CleftGeneDB-Search

Gene: TNS1

Basic information

Tag	Content
Uniprot ID	Q9HBL0; Q4ZG71; Q6IPI5;
Entrez ID	7145
Genbank protein ID	AAX88952.1; AAH71905.1; AAG33700.1;
Genbank nucleotide ID	NM_001308022.1; NM_022648.5;
Ensembl protein ID	ENSP00000308321; ENSP00000171887;
Ensembl nucleotide ID	ENSG00000079308
Gene name	Tensin-1
Gene symbol	TNS1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	16953426
Functional description	Involved in fibrillar adhesion formation. May be involved in cell migration, cartilage development and in linking signal transduction pathways to the cytoskeleton.
Sequence	MSVSRTMEDS CELDLVYVTE RIIAVSFPST ANEENFRSNL REVAQMLKSK HGGNYLLFNL 60 SERRPDITKL HAKVLEFGWP DLHTPALEKI CSICKAMDTW LNADPHNVVV LHNKGNRGRI 120 GVVIAAYMHY SNISASADQA LDRFAMKRFY EDKIVPIGQP SQRRYVHYFS GLLSGSIKMN 180 NKPLFLHHVI MHGIPNFESK GGCRPFLRIY QAMQPVYTSG IYNIPGDSQT SVCITIEPGL 240 LLKGDILLKC YHKKFRSPAR DVIFRVQFHT CAIHDLGVVF GKEDLDDAFK DDRFPEYGKV 300 EFVFSYGPEK IQGMEHLENG PSVSVDYNTS DPLIRWDSYD NFSGHRDDGM EEVVGHTQGP 360 LDGSLYAKVK KKDSLHGSTG AVNATRPTLS ATPNHVEHTL SVSSDSGNST ASTKTDKTDE 420 PVPGASSATA ALSPQEKREL DRLLSGFGLE REKQGAMYHT QHLRSRPAGG SAVPSSGRHV 480 VPAQVHVNGG ALASERETDI LDDELPNQDG HSAGSMGTLS SLDGVTNTSE GGYPEALSPL 540 TNGLDKSYPM EPMVNGGGYP YESASRAGPA HAGHTAPMRP SYSAQEGLAG YQREGPHPAW 600 PQPVTTSHYA HDPSGMFRSQ SFSEAEPQLP PAPVRGGSSR EAVQRGLNSW QQQQQQQQQP 660 RPPPRQQERA HLESLVASRP SPQPLAETPI PSLPEFPRAA SQQEIEQSIE TLNMLMLDLE 720 PASAAAPLHK SQSVPGAWPG ASPLSSQPLS GSSRQSHPLT QSRSGYIPSG HSLGTPEPAP 780 RASLESVPPG RSYSPYDYQP CLAGPNQDFH SKSPASSSLP AFLPTTHSPP GPQQPPASLP 840 GLTAQPLLSP KEATSDPSRT PEEEPLNLEG LVAHRVAGVQ AREKQPAEPP APLRRRAASD 900 GQYENQSPEA TSPRSPGVRS PVQCVSPELA LTIALNPGGR PKEPHLHSYK EAFEEMEGTS 960 PSSPPPSGVR SPPGLAKTPL SALGLKPHNP ADILLHPTGV TRRRIQPEED EGKVVVRLSE 1020 EPRSYVESVA RTAVAGPRAQ DSEPKSFSAP ATQAYGHEIP LRNGTLGGSF VSPSPLSTSS 1080 PILSADSTSV GSFPSGESSD QGPRTPTQPL LESGFRSGSL GQPSPSAQRN YQSSSPLPTV 1140 GSSYSSPDYS LQHFSSSPES QARAQFSVAG VHTVPGSPQA RHRTVGTNTP PSPGFGWRAI 1200 NPSMAAPSSP SLSHHQMMGP PGTGFHGSTV SSPQSSAATT PGSPSLCRHP AGVYQVSGLH 1260 NKVATTPGSP SLGRHPGAHQ GNLASGLHSN AIASPGSPSL GRHLGGSGSV VPGSPCLDRH 1320 VAYGGYSTPE DRRPTLSRQS SASGYQAPST PSFPVSPAYY PGLSSPATSP SPDSAAFRQG 1380 SPTPALPEKR RMSVGDRAGS LPNYATINGK VSSPVASGMS SPSGGSTVSF SHTLPDFSKY 1440 SMPDNSPETR AKVKFVQDTS KYWYKPEISR EQAIALLKDQ EPGAFIIRDS HSFRGAYGLA 1500 MKVSSPPPTI MQQNKKGDMT HELVRHFLIE TGPRGVKLKG CPNEPNFGSL SALVYQHSII 1560 PLALPCKLVI PNRDPTDESK DSSGPANSTA DLLKQGAACN VLFVNSVDME SLTGPQAISK 1620 ATSETLAADP TPAATIVHFK VSAQGITLTD NQRKLFFRRH YPLNTVTFCD LDPQERKWMK 1680 TEGGAPAKLF GFVARKQGST TDNACHLFAE LDPNQPASAI VNFVSKVMLN AGQKR 1735

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	TNS1		A0A452EMY6	Capra hircus	Prediction	More>>
1:1 ortholog	TNS1	7145	Q9HBL0	Homo sapiens	Publication	More>>
1:1 ortholog	Tns1		A0A087WQ94	Mus musculus	Prediction	More>>
1:1 ortholog	TNS1	459934	A0A2I3SUI0	Pan troglodytes	Prediction	More>>
1:1 ortholog	Tns1	301509	F1LN42	Rattus norvegicus	Prediction	More>>
1:1 ortholog	tns1b		F1Q649	Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs750480116	p.Ser2Asn	missense variant	-	NC_000002.12:g.217897961C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val3Met	missense variant	-	NC_000002.12:g.217897959C>T	NCI-TCGA
rs369050860	p.Val3Glu	missense variant	-	NC_000002.12:g.217897958A>T	ESP,ExAC,gnomAD
rs756457554	p.Arg5Trp	missense variant	-	NC_000002.12:g.217897953G>A	ExAC,TOPMed,gnomAD
rs751675580	p.Arg5Gln	missense variant	-	NC_000002.12:g.217897952C>T	ExAC,TOPMed,gnomAD
rs113181713	p.Thr6Ala	missense variant	-	NC_000002.12:g.217897950T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763189901	p.Met7Leu	missense variant	-	NC_000002.12:g.217897947T>G	ExAC,gnomAD
rs1278055759	p.Met7Ile	missense variant	-	NC_000002.12:g.217897945C>T	gnomAD
rs781413984	p.Asp9Glu	missense variant	-	NC_000002.12:g.217897939G>C	ExAC,TOPMed
rs893931687	p.Ser10Asn	missense variant	-	NC_000002.12:g.217897937C>T	TOPMed,gnomAD
rs1351782914	p.Cys11Ser	missense variant	-	NC_000002.12:g.217897934C>G	TOPMed
COSM4091386	p.Cys11Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217897935A>G	NCI-TCGA Cosmic
rs776272908	p.Leu15Arg	missense variant	-	NC_000002.12:g.217897922A>C	ExAC,gnomAD
NCI-TCGA novel	p.Val16Leu	missense variant	-	NC_000002.12:g.217897920C>A	NCI-TCGA
rs746669289	p.Val16Gly	missense variant	-	NC_000002.12:g.217897919A>C	ExAC,gnomAD
rs770495832	p.Val16Leu	missense variant	-	NC_000002.12:g.217897920C>G	ExAC,gnomAD
rs1227606667	p.Tyr17His	missense variant	-	NC_000002.12:g.217897917A>G	gnomAD
rs147171878	p.Val18Ile	missense variant	-	NC_000002.12:g.217897914C>T	ESP,ExAC,TOPMed,gnomAD
rs1462649785	p.Thr19Ile	missense variant	-	NC_000002.12:g.217897910G>A	gnomAD
rs1293160895	p.Thr19Ala	missense variant	-	NC_000002.12:g.217897911T>C	gnomAD
rs1258111069	p.Arg21Met	missense variant	-	NC_000002.12:g.217897904C>A	TOPMed
rs1258111069	p.Arg21Thr	missense variant	-	NC_000002.12:g.217897904C>G	TOPMed
rs1401373721	p.Ile22Met	missense variant	-	NC_000002.12:g.217897900G>C	gnomAD
NCI-TCGA novel	p.Ile23Met	missense variant	-	NC_000002.12:g.217897897G>C	NCI-TCGA
rs754895922	p.Ala24Ser	missense variant	-	NC_000002.12:g.217897896C>A	ExAC,gnomAD
rs41272679	p.Val25Leu	missense variant	-	NC_000002.12:g.217897893C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs41272679	p.Val25Ile	missense variant	-	NC_000002.12:g.217897893C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781264279	p.Ser26Phe	missense variant	-	NC_000002.12:g.217897889G>A	ExAC,gnomAD
rs751840566	p.Ala31Thr	missense variant	-	NC_000002.12:g.217897875C>T	ExAC,TOPMed,gnomAD
rs764193980	p.Ala31Val	missense variant	-	NC_000002.12:g.217897874G>A	ExAC,gnomAD
rs149429283	p.Asn32Lys	missense variant	-	NC_000002.12:g.217897870A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376836561	p.Asn32Ser	missense variant	-	NC_000002.12:g.217897871T>C	ExAC,TOPMed,gnomAD
rs777218106	p.Glu34Gly	missense variant	-	NC_000002.12:g.217897865T>C	ExAC,gnomAD
rs1329444969	p.Glu34Asp	missense variant	-	NC_000002.12:g.217897864C>A	gnomAD
rs772956909	p.Arg37Gln	missense variant	-	NC_000002.12:g.217897856C>T	ExAC,TOPMed,gnomAD
rs772956909	p.Arg37Pro	missense variant	-	NC_000002.12:g.217897856C>G	ExAC,TOPMed,gnomAD
rs145099703	p.Arg37Trp	missense variant	-	NC_000002.12:g.217897857G>A	ESP,ExAC,TOPMed,gnomAD
rs1461343953	p.Ser38Asn	missense variant	-	NC_000002.12:g.217897853C>T	TOPMed
rs377270295	p.Arg41Cys	missense variant	-	NC_000002.12:g.217897845G>A	ExAC,gnomAD
rs774021860	p.Arg41His	missense variant	-	NC_000002.12:g.217897844C>T	ExAC,TOPMed,gnomAD
rs1464950790	p.Glu42Asp	missense variant	-	NC_000002.12:g.217897840C>G	gnomAD
rs189245696	p.Ala44Gly	missense variant	-	NC_000002.12:g.217897835G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs749246801	p.Ala44Thr	missense variant	-	NC_000002.12:g.217897836C>T	ExAC,gnomAD
rs189245696	p.Ala44Val	missense variant	-	NC_000002.12:g.217897835G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs747040632	p.Gln45His	missense variant	-	NC_000002.12:g.217897831C>A	ExAC,TOPMed,gnomAD
rs747040632	p.Gln45His	missense variant	-	NC_000002.12:g.217897831C>G	ExAC,TOPMed,gnomAD
rs201362490	p.Met46Val	missense variant	-	NC_000002.12:g.217897830T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu47Phe	missense variant	-	NC_000002.12:g.217897827G>A	NCI-TCGA
rs1485876389	p.Lys48Glu	missense variant	-	NC_000002.12:g.217897824T>C	gnomAD
COSM1016276	p.Ser49Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217897820G>T	NCI-TCGA Cosmic
rs767046731	p.His51Arg	missense variant	-	NC_000002.12:g.217897814T>C	gnomAD
rs148888599	p.Leu56Arg	missense variant	-	NC_000002.12:g.217897799A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747185017	p.Asn59Thr	missense variant	-	NC_000002.12:g.217895049T>G	ExAC,TOPMed,gnomAD
rs747185017	p.Asn59Ile	missense variant	-	NC_000002.12:g.217895049T>A	ExAC,TOPMed,gnomAD
rs747185017	p.Asn59Ser	missense variant	-	NC_000002.12:g.217895049T>C	ExAC,TOPMed,gnomAD
rs550206581	p.Leu60Val	missense variant	-	NC_000002.12:g.217895047G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs550206581	p.Leu60Phe	missense variant	-	NC_000002.12:g.217895047G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1437846426	p.Glu62Lys	missense variant	-	NC_000002.12:g.217895041C>T	gnomAD
rs748336747	p.Arg63Trp	missense variant	-	NC_000002.12:g.217895038G>A	ExAC,TOPMed,gnomAD
rs571848557	p.Arg63Gln	missense variant	-	NC_000002.12:g.217895037C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs141417657	p.Arg64Ile	missense variant	-	NC_000002.12:g.217895034C>A	ESP,ExAC,TOPMed,gnomAD
rs1161080632	p.Pro65Leu	missense variant	-	NC_000002.12:g.217895031G>A	gnomAD
rs368029360	p.Pro65Thr	missense variant	-	NC_000002.12:g.217895032G>T	ESP,ExAC,TOPMed,gnomAD
rs368029360	p.Pro65Ser	missense variant	-	NC_000002.12:g.217895032G>A	ESP,ExAC,TOPMed,gnomAD
rs780765634	p.Asp66Val	missense variant	-	NC_000002.12:g.217895028T>A	ExAC,gnomAD
rs140507959	p.Thr68Met	missense variant	-	NC_000002.12:g.217895022G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766958267	p.Lys69Gln	missense variant	-	NC_000002.12:g.217895020T>G	ExAC,TOPMed,gnomAD
rs761345158	p.Leu70Phe	missense variant	-	NC_000002.12:g.217895017G>A	ExAC
rs1452236087	p.His71Arg	missense variant	-	NC_000002.12:g.217895013T>C	gnomAD
rs1208238793	p.His71Tyr	missense variant	-	NC_000002.12:g.217895014G>A	gnomAD
NCI-TCGA novel	p.Lys73Asn	missense variant	-	NC_000002.12:g.217895006C>A	NCI-TCGA
rs781701170	p.Val74Gly	missense variant	-	NC_000002.12:g.217893560A>C	ExAC
rs756764081	p.Leu75Gln	missense variant	-	NC_000002.12:g.217893557A>T	ExAC,TOPMed,gnomAD
rs756764081	p.Leu75Pro	missense variant	-	NC_000002.12:g.217893557A>G	ExAC,TOPMed,gnomAD
rs1336032074	p.Gly78Ser	missense variant	-	NC_000002.12:g.217893549C>T	gnomAD
rs1309456584	p.Gly78Asp	missense variant	-	NC_000002.12:g.217893548C>T	gnomAD
rs372578005	p.Asp81Asn	missense variant	-	NC_000002.12:g.217893540C>T	ExAC,gnomAD
rs758046312	p.Leu82Phe	missense variant	-	NC_000002.12:g.217893537G>A	ExAC,gnomAD
rs752284144	p.Leu82Arg	missense variant	-	NC_000002.12:g.217893536A>C	ExAC,TOPMed,gnomAD
rs764968136	p.His83Tyr	missense variant	-	NC_000002.12:g.217893534G>A	ExAC,gnomAD
rs1252898284	p.Thr84Asn	missense variant	-	NC_000002.12:g.217893530G>T	gnomAD
rs202181466	p.Ile90Phe	missense variant	-	NC_000002.12:g.217893513T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1211476074	p.Ser92Ile	missense variant	-	NC_000002.12:g.217893506C>A	gnomAD
rs1314506236	p.Cys94Ser	missense variant	-	NC_000002.12:g.217893500C>G	gnomAD
rs774569280	p.Met97Ile	missense variant	-	NC_000002.12:g.217893490C>T	ExAC,TOPMed,gnomAD
rs370956506	p.Met97Val	missense variant	-	NC_000002.12:g.217893492T>C	ESP,ExAC,gnomAD
rs1218188877	p.Met97Thr	missense variant	-	NC_000002.12:g.217893491A>G	gnomAD
rs774569280	p.Met97Ile	missense variant	-	NC_000002.12:g.217893490C>G	ExAC,TOPMed,gnomAD
rs768789067	p.Thr99Ala	missense variant	-	NC_000002.12:g.217893486T>C	ExAC,TOPMed,gnomAD
rs775740128	p.Leu101Phe	missense variant	-	NC_000002.12:g.217893480G>A	ExAC,TOPMed,gnomAD
rs61745748	p.Asn102His	missense variant	-	NC_000002.12:g.217893477T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757753900	p.Asn102Lys	missense variant	-	NC_000002.12:g.217893475A>T	ExAC,TOPMed,gnomAD
rs773471674	p.Asn102Ser	missense variant	-	NC_000002.12:g.217893476T>C	ExAC,TOPMed,gnomAD
rs747446380	p.Ala103Gly	missense variant	-	NC_000002.12:g.217893473G>C	ExAC,TOPMed,gnomAD
rs747446380	p.Ala103Val	missense variant	-	NC_000002.12:g.217893473G>A	ExAC,TOPMed,gnomAD
rs1413984557	p.Pro105Leu	missense variant	-	NC_000002.12:g.217893467G>A	gnomAD
rs777274496	p.His106Asn	missense variant	-	NC_000002.12:g.217893465G>T	ExAC,TOPMed,gnomAD
rs1161678934	p.Asn107Ser	missense variant	-	NC_000002.12:g.217893461T>C	TOPMed,gnomAD
rs1471710889	p.Asn107Lys	missense variant	-	NC_000002.12:g.217893460A>C	gnomAD
rs757859898	p.Val108Ile	missense variant	-	NC_000002.12:g.217893459C>T	ExAC,TOPMed,gnomAD
rs149902330	p.Val109Ile	missense variant	-	NC_000002.12:g.217893456C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201232473	p.Val110Ala	missense variant	-	NC_000002.12:g.217893452A>G	1000Genomes
rs1287607852	p.His112Tyr	missense variant	-	NC_000002.12:g.217893447G>A	TOPMed
rs1356455139	p.Asn113Asp	missense variant	-	NC_000002.12:g.217893444T>C	TOPMed
rs750425819	p.Arg117Gln	missense variant	-	NC_000002.12:g.217893005C>T	ExAC,TOPMed,gnomAD
rs767538088	p.Arg119Lys	missense variant	-	NC_000002.12:g.217892999C>T	ExAC,gnomAD
rs377519321	p.Ala125Val	missense variant	-	NC_000002.12:g.217892981G>A	ESP,ExAC,TOPMed,gnomAD
rs375621959	p.Ala125Thr	missense variant	-	NC_000002.12:g.217892982C>T	ESP,ExAC,TOPMed,gnomAD
rs772557705	p.Met128Val	missense variant	-	NC_000002.12:g.217892973T>C	ExAC,TOPMed,gnomAD
rs772557705	p.Met128Leu	missense variant	-	NC_000002.12:g.217892973T>G	ExAC,TOPMed,gnomAD
rs747680997	p.Met128Ile	missense variant	-	NC_000002.12:g.217892971C>T	ExAC
rs1382379186	p.His129Gln	missense variant	-	NC_000002.12:g.217892968G>C	TOPMed
rs778492034	p.His129Asn	missense variant	-	NC_000002.12:g.217892970G>T	ExAC,gnomAD
rs1342144807	p.His129Pro	missense variant	-	NC_000002.12:g.217892969T>G	TOPMed
COSM3577601	p.His129Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217892970G>A	NCI-TCGA Cosmic
rs1381015686	p.Ser131Gly	missense variant	-	NC_000002.12:g.217892964T>C	gnomAD
rs1459592869	p.Ser131Asn	missense variant	-	NC_000002.12:g.217892963C>T	gnomAD
NCI-TCGA novel	p.Ser131Ile	missense variant	-	NC_000002.12:g.217892963C>A	NCI-TCGA
rs150712479	p.Asn132Lys	missense variant	-	NC_000002.12:g.217892959G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1311598174	p.Asn132Ser	missense variant	-	NC_000002.12:g.217892960T>C	TOPMed
rs748993471	p.Ala135Thr	missense variant	-	NC_000002.12:g.217892952C>T	ExAC,TOPMed,gnomAD
rs191273706	p.Ala137Glu	missense variant	-	NC_000002.12:g.217891043G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs191273706	p.Ala137Val	missense variant	-	NC_000002.12:g.217891043G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753904767	p.Gln139Lys	missense variant	-	NC_000002.12:g.217891038G>T	ExAC,gnomAD
rs753904767	p.Gln139Glu	missense variant	-	NC_000002.12:g.217891038G>C	ExAC,gnomAD
rs1345676729	p.Asp142Asn	missense variant	-	NC_000002.12:g.217891029C>T	gnomAD
rs1235601145	p.Arg143Trp	missense variant	-	NC_000002.12:g.217891026G>A	gnomAD
rs756335612	p.Arg143Gln	missense variant	-	NC_000002.12:g.217891025C>T	ExAC,TOPMed,gnomAD
rs756335612	p.Arg143Leu	missense variant	-	NC_000002.12:g.217891025C>A	ExAC,TOPMed,gnomAD
rs1282902005	p.Ala145Val	missense variant	-	NC_000002.12:g.217891019G>A	TOPMed,gnomAD
rs1412037272	p.Met146Arg	missense variant	-	NC_000002.12:g.217891016A>C	gnomAD
rs1410617832	p.Lys147Arg	missense variant	-	NC_000002.12:g.217891013T>C	gnomAD
rs975239010	p.Arg148Gln	missense variant	-	NC_000002.12:g.217891010C>T	TOPMed,gnomAD
rs750588464	p.Arg148Trp	missense variant	-	NC_000002.12:g.217891011G>A	ExAC,TOPMed,gnomAD
rs375272427	p.Tyr150Cys	missense variant	-	NC_000002.12:g.217891004T>C	ESP,TOPMed
rs767947576	p.Glu151Lys	missense variant	-	NC_000002.12:g.217891002C>T	ExAC,gnomAD
rs762044577	p.Glu151Gly	missense variant	-	NC_000002.12:g.217891001T>C	ExAC,gnomAD
rs774970842	p.Asp152His	missense variant	-	NC_000002.12:g.217890999C>G	ExAC,TOPMed,gnomAD
rs774970842	p.Asp152Tyr	missense variant	-	NC_000002.12:g.217890999C>A	ExAC,TOPMed,gnomAD
rs764494567	p.Pro156Ala	missense variant	-	NC_000002.12:g.217890987G>C	ExAC,gnomAD
rs764494567	p.Pro156Ser	missense variant	-	NC_000002.12:g.217890987G>A	ExAC,gnomAD
rs775143453	p.Gly158Ser	missense variant	-	NC_000002.12:g.217890981C>T	ExAC,gnomAD
rs1409267340	p.Gln159His	missense variant	-	NC_000002.12:g.217890976C>G	gnomAD
rs965169426	p.Gln159Arg	missense variant	-	NC_000002.12:g.217890977T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Arg163Ile	missense variant	-	NC_000002.12:g.217890965C>A	NCI-TCGA
rs759083211	p.Val166Met	missense variant	-	NC_000002.12:g.217886642C>T	ExAC,TOPMed,gnomAD
rs1378809326	p.Tyr168Cys	missense variant	-	NC_000002.12:g.217886635T>C	TOPMed
rs1310293483	p.Phe169Leu	missense variant	-	NC_000002.12:g.217886633A>G	gnomAD
rs1357521800	p.Ser170Asn	missense variant	-	NC_000002.12:g.217886629C>T	gnomAD
rs1243026974	p.Leu173Phe	missense variant	-	NC_000002.12:g.217886621G>A	gnomAD
rs142909946	p.Ser174Cys	missense variant	-	NC_000002.12:g.217886617G>C	ESP,TOPMed,gnomAD
rs191961315	p.Gly175Arg	missense variant	-	NC_000002.12:g.217886615C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs191961315	p.Gly175Ser	missense variant	-	NC_000002.12:g.217886615C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1317230547	p.Ser176Phe	missense variant	-	NC_000002.12:g.217886611G>A	TOPMed,gnomAD
rs771844409	p.Met179Ile	missense variant	-	NC_000002.12:g.217886601C>A	ExAC
rs201748801	p.Asn180Asp	missense variant	-	NC_000002.12:g.217886600T>C	ESP,ExAC,TOPMed,gnomAD
rs778781637	p.Asn180Ser	missense variant	-	NC_000002.12:g.217886599T>C	ExAC,gnomAD
rs1390784182	p.Pro183Leu	missense variant	-	NC_000002.12:g.217886590G>A	gnomAD
rs1293649446	p.Pro183Ser	missense variant	-	NC_000002.12:g.217886591G>A	TOPMed,gnomAD
rs555681856	p.His187Tyr	missense variant	-	NC_000002.12:g.217886579G>A	1000Genomes,ExAC,gnomAD
rs781544708	p.His187Leu	missense variant	-	NC_000002.12:g.217886578T>A	ExAC,gnomAD
rs1326802496	p.His188Arg	missense variant	-	NC_000002.12:g.217886575T>C	TOPMed
rs200738017	p.Val189Met	missense variant	-	NC_000002.12:g.217886573C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM4091382	p.Met191Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217886565C>T	NCI-TCGA Cosmic
rs1220792311	p.His192Tyr	missense variant	-	NC_000002.12:g.217886564G>A	gnomAD
rs576154784	p.Gly193Ser	missense variant	-	NC_000002.12:g.217886561C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1231197789	p.Gly193Asp	missense variant	-	NC_000002.12:g.217886560C>T	gnomAD
NCI-TCGA novel	p.Asn196Tyr	missense variant	-	NC_000002.12:g.217886552T>A	NCI-TCGA
rs201601193	p.Asn196Ser	missense variant	-	NC_000002.12:g.217886551T>C	1000Genomes,gnomAD
rs945485383	p.Asn196His	missense variant	-	NC_000002.12:g.217886552T>G	gnomAD
NCI-TCGA novel	p.Phe197Leu	missense variant	-	NC_000002.12:g.217886549A>G	NCI-TCGA
rs753292394	p.Phe197Ile	missense variant	-	NC_000002.12:g.217886549A>T	ExAC,gnomAD
rs1404116595	p.Ser199Cys	missense variant	-	NC_000002.12:g.217886542G>C	TOPMed,gnomAD
rs1321173766	p.Ser199Pro	missense variant	-	NC_000002.12:g.217886543A>G	gnomAD
rs1426256530	p.Lys200Glu	missense variant	-	NC_000002.12:g.217886540T>C	gnomAD
rs765813349	p.Gly201Ter	stop gained	-	NC_000002.12:g.217886537C>A	ExAC
rs1479860678	p.Gly202Ala	missense variant	-	NC_000002.12:g.217886104C>G	gnomAD
rs753102119	p.Arg204Gln	missense variant	-	NC_000002.12:g.217886098C>T	ExAC,gnomAD
rs758879835	p.Arg204Trp	missense variant	-	NC_000002.12:g.217886099G>A	ExAC,TOPMed,gnomAD
rs892568680	p.Pro205Leu	missense variant	-	NC_000002.12:g.217886095G>A	TOPMed,gnomAD
rs1202449340	p.Leu207Phe	missense variant	-	NC_000002.12:g.217886090G>A	gnomAD
rs1202449340	p.Leu207Ile	missense variant	-	NC_000002.12:g.217886090G>T	gnomAD
rs374787049	p.Arg208His	missense variant	-	NC_000002.12:g.217886086C>T	ESP,ExAC,TOPMed,gnomAD
rs374787049	p.Arg208Leu	missense variant	-	NC_000002.12:g.217886086C>A	ESP,ExAC,TOPMed,gnomAD
rs755548915	p.Arg208Gly	missense variant	-	NC_000002.12:g.217886087G>C	ExAC,TOPMed,gnomAD
rs755548915	p.Arg208Cys	missense variant	-	NC_000002.12:g.217886087G>A	ExAC,TOPMed,gnomAD
rs760194256	p.Gln211Arg	missense variant	-	NC_000002.12:g.217886077T>C	ExAC,gnomAD
rs750083622	p.Ala212Thr	missense variant	-	NC_000002.12:g.217886075C>T	ExAC,gnomAD
rs767134868	p.Met213Ile	missense variant	-	NC_000002.12:g.217886070C>T	ExAC,gnomAD
rs761663219	p.Gln214Lys	missense variant	-	NC_000002.12:g.217886069G>T	ExAC,gnomAD
rs774136808	p.Pro215Ser	missense variant	-	NC_000002.12:g.217886066G>A	ExAC,gnomAD
rs762819345	p.Val216Leu	missense variant	-	NC_000002.12:g.217886063C>G	ExAC,gnomAD
rs762819345	p.Val216Met	missense variant	-	NC_000002.12:g.217886063C>T	ExAC,gnomAD
rs1161561420	p.Ile221Val	missense variant	-	NC_000002.12:g.217886048T>C	gnomAD
rs1235648399	p.Tyr222His	missense variant	-	NC_000002.12:g.217886045A>G	TOPMed
rs1173492053	p.Asn223Ser	missense variant	-	NC_000002.12:g.217885817T>C	TOPMed
rs758410042	p.Ile224Asn	missense variant	-	NC_000002.12:g.217885814A>T	ExAC,gnomAD
rs748406747	p.Pro225Leu	missense variant	-	NC_000002.12:g.217885811G>A	ExAC,gnomAD
rs139691939	p.Asp227Asn	missense variant	-	NC_000002.12:g.217885806C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs768941842	p.Ser228Arg	missense variant	-	NC_000002.12:g.217885801G>T	ExAC,gnomAD
rs749643848	p.Gln229Pro	missense variant	-	NC_000002.12:g.217885799T>G	ExAC,gnomAD
rs1405152440	p.Ser231Gly	missense variant	-	NC_000002.12:g.217885794T>C	TOPMed
rs756647969	p.Val232Ile	missense variant	-	NC_000002.12:g.217885791C>T	ExAC,TOPMed,gnomAD
rs1380582040	p.Cys233Tyr	missense variant	-	NC_000002.12:g.217885787C>T	TOPMed,gnomAD
rs1361598773	p.Cys233Ter	stop gained	-	NC_000002.12:g.217885786G>T	gnomAD
rs1380582040	p.Cys233Phe	missense variant	-	NC_000002.12:g.217885787C>A	TOPMed,gnomAD
rs1294330454	p.Ile234Leu	missense variant	-	NC_000002.12:g.217885785T>G	gnomAD
rs1277691491	p.Ile236Thr	missense variant	-	NC_000002.12:g.217885778A>G	TOPMed
COSM4924397	p.Ile236Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217885779T>C	NCI-TCGA Cosmic
rs370385101	p.Glu237Lys	missense variant	-	NC_000002.12:g.217885776C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly239AspPheSerTerUnk	frameshift	-	NC_000002.12:g.217885769C>-	NCI-TCGA
NCI-TCGA novel	p.Gly239Glu	missense variant	-	NC_000002.12:g.217885769C>T	NCI-TCGA
rs1392547263	p.Gly239Arg	missense variant	-	NC_000002.12:g.217885770C>G	gnomAD
COSM285861	p.Asp245Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217885752C>A	NCI-TCGA Cosmic
rs933698605	p.Leu248Arg	missense variant	-	NC_000002.12:g.217885163A>C	TOPMed
COSM4947512	p.Lys249Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217885159C>A	NCI-TCGA Cosmic
rs1195093827	p.Tyr251Cys	missense variant	-	NC_000002.12:g.217885154T>C	gnomAD
rs1480359970	p.His252Asp	missense variant	-	NC_000002.12:g.217885152G>C	gnomAD
rs746404544	p.Phe255Leu	missense variant	-	NC_000002.12:g.217885141G>T	ExAC,gnomAD
rs142353294	p.Arg256Gln	missense variant	-	NC_000002.12:g.217885139C>T	ESP,ExAC,TOPMed,gnomAD
rs1239751518	p.Arg256Ter	stop gained	-	NC_000002.12:g.217885140G>A	TOPMed,gnomAD
rs770473907	p.Ser257Gly	missense variant	-	NC_000002.12:g.217885137T>C	ExAC,gnomAD
rs746506634	p.Ala259Thr	missense variant	-	NC_000002.12:g.217885131C>T	ExAC,gnomAD
rs61737669	p.Arg260Gln	missense variant	-	NC_000002.12:g.217885127C>T	ESP,ExAC,TOPMed,gnomAD
rs61737669	p.Arg260Pro	missense variant	-	NC_000002.12:g.217885127C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg260Gly	missense variant	-	NC_000002.12:g.217885128G>C	NCI-TCGA
COSM5480438	p.Arg260Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.217885128G>A	NCI-TCGA Cosmic
rs371594517	p.Asp261Glu	missense variant	-	NC_000002.12:g.217885123G>C	ESP,ExAC,TOPMed,gnomAD
rs1391282849	p.Val262Ile	missense variant	-	NC_000002.12:g.217885122C>T	gnomAD
rs754692105	p.Ile263Met	missense variant	-	NC_000002.12:g.217885117G>C	ExAC
rs766397293	p.Arg265Cys	missense variant	-	NC_000002.12:g.217885113G>A	ExAC,TOPMed,gnomAD
rs766397293	p.Arg265Gly	missense variant	-	NC_000002.12:g.217885113G>C	ExAC,TOPMed,gnomAD
rs762043344	p.Arg265His	missense variant	-	NC_000002.12:g.217885112C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala272Val	missense variant	-	NC_000002.12:g.217885091G>A	NCI-TCGA
NCI-TCGA novel	p.Ile273Asn	missense variant	-	NC_000002.12:g.217885088A>T	NCI-TCGA
NCI-TCGA novel	p.Gly277Arg	missense variant	-	NC_000002.12:g.217885077C>T	NCI-TCGA
NCI-TCGA novel	p.Val278Ile	missense variant	-	NC_000002.12:g.217885074C>T	NCI-TCGA
rs1235349118	p.Val279Phe	missense variant	-	NC_000002.12:g.217885071C>A	TOPMed,gnomAD
rs775534256	p.Phe280Leu	missense variant	-	NC_000002.12:g.217885068A>G	ExAC,TOPMed,gnomAD
rs1181035293	p.Gly281Ala	missense variant	-	NC_000002.12:g.217885064C>G	TOPMed,gnomAD
rs1265222115	p.Gly281Trp	missense variant	-	NC_000002.12:g.217885065C>A	TOPMed
NCI-TCGA novel	p.Lys282ArgPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.217885063C>-	NCI-TCGA
COSM6156626	p.Asp286Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217885050C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp287Tyr	missense variant	-	NC_000002.12:g.217885047C>A	NCI-TCGA
COSM2152461	p.Phe289Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217885039G>T	NCI-TCGA Cosmic
COSM4091378	p.Arg293Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.217882406G>A	NCI-TCGA Cosmic
COSM1016274	p.Arg293Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217882405C>T	NCI-TCGA Cosmic
rs944657074	p.Glu296Gly	missense variant	-	NC_000002.12:g.217882396T>C	TOPMed,gnomAD
rs781038399	p.Glu296Asp	missense variant	-	NC_000002.12:g.217882395C>G	gnomAD
rs944657074	p.Glu296Ala	missense variant	-	NC_000002.12:g.217882396T>G	TOPMed,gnomAD
rs911823261	p.Tyr297His	missense variant	-	NC_000002.12:g.217882394A>G	TOPMed
rs1297739777	p.Tyr297Cys	missense variant	-	NC_000002.12:g.217882393T>C	gnomAD
rs759958551	p.Gly298Cys	missense variant	-	NC_000002.12:g.217882391C>A	ExAC,gnomAD
rs776981935	p.Val300Met	missense variant	-	NC_000002.12:g.217882385C>T	ExAC,TOPMed,gnomAD
rs1474894759	p.Val303Leu	missense variant	-	NC_000002.12:g.217882376C>A	TOPMed
rs1159381184	p.Ser305Phe	missense variant	-	NC_000002.12:g.217882369G>A	gnomAD
rs1391495377	p.Gly307Glu	missense variant	-	NC_000002.12:g.217882363C>T	TOPMed
rs11680854	p.Ile311Met	missense variant	-	NC_000002.12:g.217882350A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748977058	p.Gly313Asp	missense variant	-	NC_000002.12:g.217881014C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly313Ser	missense variant	-	NC_000002.12:g.217882346C>T	NCI-TCGA
rs1280967003	p.Met314Val	missense variant	-	NC_000002.12:g.217881012T>C	gnomAD
rs1222674756	p.Met314Thr	missense variant	-	NC_000002.12:g.217881011A>G	gnomAD
rs544640906	p.His316Asp	missense variant	-	NC_000002.12:g.217881006G>C	1000Genomes,ExAC,gnomAD
rs769759280	p.Leu317Pro	missense variant	-	NC_000002.12:g.217881002A>G	ExAC,TOPMed,gnomAD
rs1265341573	p.Glu318Ala	missense variant	-	NC_000002.12:g.217880999T>G	TOPMed
rs138239490	p.Gly320Arg	missense variant	-	NC_000002.12:g.217880994C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138239490	p.Gly320Arg	missense variant	-	NC_000002.12:g.217880994C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200351785	p.Pro321Leu	missense variant	-	NC_000002.12:g.217880990G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs374249469	p.Ser322Arg	missense variant	-	NC_000002.12:g.217880986G>T	ESP,ExAC,TOPMed,gnomAD
rs199656363	p.Val323Met	missense variant	-	NC_000002.12:g.217880985C>T	ESP,ExAC,TOPMed,gnomAD
rs756559646	p.Asp326Gly	missense variant	-	NC_000002.12:g.217880975T>C	ExAC,gnomAD
rs1457092831	p.Asp326Asn	missense variant	-	NC_000002.12:g.217880976C>T	TOPMed
rs750750378	p.Tyr327Asp	missense variant	-	NC_000002.12:g.217880973A>C	ExAC,gnomAD
rs767857728	p.Tyr327Cys	missense variant	-	NC_000002.12:g.217880972T>C	ExAC,gnomAD
rs752071725	p.Asn328Lys	missense variant	-	NC_000002.12:g.217880968G>T	ExAC,gnomAD
rs763736445	p.Thr329Asn	missense variant	-	NC_000002.12:g.217880966G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser330Tyr	missense variant	-	NC_000002.12:g.217880963G>T	NCI-TCGA
rs932615394	p.Asp331Gly	missense variant	-	NC_000002.12:g.217880960T>C	-
rs1260877302	p.Asp331Asn	missense variant	-	NC_000002.12:g.217880961C>T	gnomAD
rs769561868	p.Leu333Phe	missense variant	-	NC_000002.12:g.217880955G>A	ExAC,gnomAD
rs983141670	p.Ile334Leu	missense variant	-	NC_000002.12:g.217880952T>G	TOPMed
rs976031308	p.Arg335Cys	missense variant	-	NC_000002.12:g.217880949G>A	TOPMed,gnomAD
rs770708101	p.Arg335His	missense variant	-	NC_000002.12:g.217880948C>T	ExAC,gnomAD
rs1335007751	p.Asp340Asn	missense variant	-	NC_000002.12:g.217880934C>T	gnomAD
rs1335007751	p.Asp340His	missense variant	-	NC_000002.12:g.217880934C>G	gnomAD
rs768776859	p.Arg346Gly	missense variant	-	NC_000002.12:g.217880916G>C	ExAC,TOPMed,gnomAD
rs749360659	p.Arg346Gln	missense variant	-	NC_000002.12:g.217880915C>T	ExAC,TOPMed,gnomAD
rs781427620	p.Asp347Gly	missense variant	-	NC_000002.12:g.217880912T>C	ExAC,gnomAD
rs1474189779	p.Asp348Gly	missense variant	-	NC_000002.12:g.217880909T>C	TOPMed,gnomAD
rs750603103	p.Gly349Ser	missense variant	-	NC_000002.12:g.217880907C>T	ExAC,TOPMed,gnomAD
rs1164705617	p.Met350Val	missense variant	-	NC_000002.12:g.217880904T>C	gnomAD
rs1032736978	p.Met350Arg	missense variant	-	NC_000002.12:g.217880903A>C	gnomAD
NCI-TCGA novel	p.Glu351Asp	missense variant	-	NC_000002.12:g.217880899C>A	NCI-TCGA
rs781435308	p.Glu352Lys	missense variant	-	NC_000002.12:g.217880898C>T	ExAC,gnomAD
rs765740638	p.Glu352Val	missense variant	-	NC_000002.12:g.217849087T>A	ExAC,gnomAD
rs200862766	p.Thr357Met	missense variant	-	NC_000002.12:g.217849072G>A	ESP,ExAC,TOPMed,gnomAD
rs774212039	p.Gln358His	missense variant	-	NC_000002.12:g.217849068C>G	ExAC,gnomAD
rs761571534	p.Gln358Arg	missense variant	-	NC_000002.12:g.217849069T>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro360Thr	missense variant	-	NC_000002.12:g.217849064G>T	NCI-TCGA
rs764087984	p.Pro360Leu	missense variant	-	NC_000002.12:g.217849063G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser364Cys	missense variant	-	NC_000002.12:g.217849052T>A	NCI-TCGA
rs143053944	p.Leu365Val	missense variant	-	NC_000002.12:g.217849049G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773534997	p.Tyr366Cys	missense variant	-	NC_000002.12:g.217849045T>C	ExAC,TOPMed,gnomAD
rs1345881312	p.Tyr366His	missense variant	-	NC_000002.12:g.217849046A>G	TOPMed
rs748510963	p.Lys370Arg	missense variant	-	NC_000002.12:g.217849033T>C	ExAC,gnomAD
rs1271698649	p.Asp373Val	missense variant	-	NC_000002.12:g.217849024T>A	gnomAD
rs1273157750	p.Ser374Phe	missense variant	-	NC_000002.12:g.217849021G>A	gnomAD
rs769210881	p.Ser374Thr	missense variant	-	NC_000002.12:g.217849022A>T	ExAC,gnomAD
rs779642261	p.His376Arg	missense variant	-	NC_000002.12:g.217849015T>C	ExAC,gnomAD
rs1458033171	p.Gly377Ser	missense variant	-	NC_000002.12:g.217849013C>T	TOPMed
rs1192670909	p.Gly377Asp	missense variant	-	NC_000002.12:g.217849012C>T	TOPMed
rs780806182	p.Ser378Asn	missense variant	-	NC_000002.12:g.217849009C>T	ExAC,gnomAD
rs751369945	p.Gly380Arg	missense variant	-	NC_000002.12:g.217849004C>T	ExAC,TOPMed,gnomAD
rs751369945	p.Gly380Arg	missense variant	-	NC_000002.12:g.217849004C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala381Val	missense variant	-	NC_000002.12:g.217849000G>A	NCI-TCGA
rs763734847	p.Ala381Thr	missense variant	-	NC_000002.12:g.217849001C>T	ExAC,TOPMed,gnomAD
rs1444198691	p.Asn383Thr	missense variant	-	NC_000002.12:g.217848994T>G	TOPMed,gnomAD
rs1336252508	p.Ala384Asp	missense variant	-	NC_000002.12:g.217848991G>T	gnomAD
rs766880323	p.Arg386Gly	missense variant	-	NC_000002.12:g.217848986G>C	ExAC,gnomAD
rs1399156741	p.Arg386His	missense variant	-	NC_000002.12:g.217848985C>T	TOPMed
rs766880323	p.Arg386Cys	missense variant	-	NC_000002.12:g.217848986G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro387Thr	missense variant	-	NC_000002.12:g.217848983G>T	NCI-TCGA
rs1352530013	p.Thr388Ala	missense variant	-	NC_000002.12:g.217848980T>C	TOPMed,gnomAD
rs752536360	p.Thr388Ile	missense variant	-	NC_000002.12:g.217848979G>A	ExAC
rs1368999137	p.Leu389Gln	missense variant	-	NC_000002.12:g.217848976A>T	TOPMed
rs766604784	p.Ser390Leu	missense variant	-	NC_000002.12:g.217848973G>A	ExAC,TOPMed,gnomAD
rs1470518765	p.Ala391Val	missense variant	-	NC_000002.12:g.217848970G>A	gnomAD
rs772420428	p.Thr392Ala	missense variant	-	NC_000002.12:g.217848968T>C	ExAC,gnomAD
rs774796955	p.Pro393Ala	missense variant	-	NC_000002.12:g.217848965G>C	ExAC,TOPMed,gnomAD
rs768857809	p.Pro393Arg	missense variant	-	NC_000002.12:g.217848964G>C	ExAC,gnomAD
rs774796955	p.Pro393Ser	missense variant	-	NC_000002.12:g.217848965G>A	ExAC,TOPMed,gnomAD
rs768857809	p.Pro393His	missense variant	-	NC_000002.12:g.217848964G>T	ExAC,gnomAD
NCI-TCGA novel	p.Asn394ThrPheSerTerUnk	frameshift	-	NC_000002.12:g.217848963G>-	NCI-TCGA
rs148316380	p.Asn394Thr	missense variant	-	NC_000002.12:g.217848961T>G	ESP,ExAC,TOPMed,gnomAD
rs780509812	p.His395Tyr	missense variant	-	NC_000002.12:g.217848959G>A	ExAC,gnomAD
rs759099041	p.His395Gln	missense variant	-	NC_000002.12:g.217848957G>T	TOPMed,gnomAD
rs745375281	p.Val396Met	missense variant	-	NC_000002.12:g.217848956C>T	ExAC,TOPMed,gnomAD
rs745375281	p.Val396Leu	missense variant	-	NC_000002.12:g.217848956C>A	ExAC,TOPMed,gnomAD
rs1276298715	p.Glu397Asp	missense variant	-	NC_000002.12:g.217848951T>A	gnomAD
NCI-TCGA novel	p.Glu397Gln	missense variant	-	NC_000002.12:g.217848953C>G	NCI-TCGA
rs1218409718	p.His398Gln	missense variant	-	NC_000002.12:g.217848948G>C	gnomAD
rs780609967	p.Thr399Met	missense variant	-	NC_000002.12:g.217848946G>A	ExAC,gnomAD
rs1444475950	p.Leu400Arg	missense variant	-	NC_000002.12:g.217848943A>C	gnomAD
rs201008562	p.Leu400Phe	missense variant	-	NC_000002.12:g.217848944G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1374694266	p.Ser403Asn	missense variant	-	NC_000002.12:g.217848934C>T	gnomAD
rs777654934	p.Ser404Ile	missense variant	-	NC_000002.12:g.217848931C>A	ExAC,gnomAD
rs138285837	p.Ser404Arg	missense variant	-	NC_000002.12:g.217848930G>T	ESP,ExAC,TOPMed,gnomAD
rs751123213	p.Ser404Cys	missense variant	-	NC_000002.12:g.217848932T>A	ExAC,gnomAD
rs1054588940	p.Asp405Asn	missense variant	-	NC_000002.12:g.217848929C>T	TOPMed
rs759438688	p.Ser406Trp	missense variant	-	NC_000002.12:g.217848925G>C	TOPMed,gnomAD
rs759438688	p.Ser406Leu	missense variant	-	NC_000002.12:g.217848925G>A	TOPMed,gnomAD
rs765253886	p.Gly407Cys	missense variant	-	NC_000002.12:g.217848923C>A	ExAC,gnomAD
rs765253886	p.Gly407Arg	missense variant	-	NC_000002.12:g.217848923C>G	ExAC,gnomAD
rs760906017	p.Asn408Ser	missense variant	-	NC_000002.12:g.217848919T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser409Cys	missense variant	-	NC_000002.12:g.217848916G>C	NCI-TCGA
rs750536300	p.Ser409Tyr	missense variant	-	NC_000002.12:g.217848916G>T	ExAC,gnomAD
rs953460153	p.Thr410Ala	missense variant	-	NC_000002.12:g.217848914T>C	TOPMed,gnomAD
rs762121379	p.Thr413Ile	missense variant	-	NC_000002.12:g.217848904G>A	ExAC,TOPMed,gnomAD
rs1045407127	p.Thr413Ala	missense variant	-	NC_000002.12:g.217848905T>C	TOPMed
rs1380570457	p.Asp416Val	missense variant	-	NC_000002.12:g.217848895T>A	TOPMed
rs769108465	p.Asp416Asn	missense variant	-	NC_000002.12:g.217848896C>T	ExAC,gnomAD
rs1232635977	p.Lys417Asn	missense variant	-	NC_000002.12:g.217848891C>G	gnomAD
rs76235817	p.Thr418Ala	missense variant	-	NC_000002.12:g.217848890T>C	gnomAD
rs1286286362	p.Thr418Asn	missense variant	-	NC_000002.12:g.217848889G>T	gnomAD
rs76235817	p.Thr418Pro	missense variant	-	NC_000002.12:g.217848890T>G	gnomAD
rs770287849	p.Asp419Asn	missense variant	-	NC_000002.12:g.217848887C>T	ExAC,TOPMed,gnomAD
rs147048389	p.Asp419Glu	missense variant	-	NC_000002.12:g.217848885G>C	ESP,ExAC,TOPMed,gnomAD
rs147048389	p.Asp419Glu	missense variant	-	NC_000002.12:g.217848885G>T	ESP,ExAC,TOPMed,gnomAD
rs1354496737	p.Glu420Lys	missense variant	-	NC_000002.12:g.217848884C>T	TOPMed,gnomAD
rs746714545	p.Pro421His	missense variant	-	NC_000002.12:g.217848880G>T	ExAC,gnomAD
rs1246800292	p.Pro421Thr	missense variant	-	NC_000002.12:g.217848881G>T	gnomAD
rs746714545	p.Pro421Arg	missense variant	-	NC_000002.12:g.217848880G>C	ExAC,gnomAD
rs963165230	p.Val422Ile	missense variant	-	NC_000002.12:g.217848878C>T	gnomAD
rs1345027580	p.Gly424Arg	missense variant	-	NC_000002.12:g.217848872C>T	TOPMed
NCI-TCGA novel	p.Ala425Asp	missense variant	-	NC_000002.12:g.217848868G>T	NCI-TCGA
NCI-TCGA novel	p.Ala425Thr	missense variant	-	NC_000002.12:g.217848869C>T	NCI-TCGA
rs1320658622	p.Ser426Phe	missense variant	-	NC_000002.12:g.217848865G>A	gnomAD
COSM4835970	p.Ser426Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848865G>C	NCI-TCGA Cosmic
rs1360428907	p.Ala428Ser	missense variant	-	NC_000002.12:g.217848860C>A	gnomAD
rs778784897	p.Ala431Val	missense variant	-	NC_000002.12:g.217848850G>A	ExAC,gnomAD
COSM3991051	p.Leu432Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848846C>G	NCI-TCGA Cosmic
rs754979596	p.Gln435Leu	missense variant	-	NC_000002.12:g.217848838T>A	ExAC,TOPMed,gnomAD
rs1180868911	p.Glu436Gln	missense variant	-	NC_000002.12:g.217848836C>G	gnomAD
rs201977904	p.Arg438Gln	missense variant	-	NC_000002.12:g.217848829C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201977904	p.Arg438Pro	missense variant	-	NC_000002.12:g.217848829C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1014781428	p.Arg438Trp	missense variant	-	NC_000002.12:g.217848830G>A	TOPMed,gnomAD
rs1487960854	p.Asp441Tyr	missense variant	-	NC_000002.12:g.217848821C>A	gnomAD
rs61740205	p.Asp441Glu	missense variant	-	NC_000002.12:g.217848819G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373131506	p.Arg442Cys	missense variant	-	NC_000002.12:g.217848818G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373131506	p.Arg442Gly	missense variant	-	NC_000002.12:g.217848818G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764214597	p.Arg442His	missense variant	-	NC_000002.12:g.217848817C>T	ExAC,TOPMed,gnomAD
rs764214597	p.Arg442Leu	missense variant	-	NC_000002.12:g.217848817C>A	ExAC,TOPMed,gnomAD
rs1310890653	p.Leu443Arg	missense variant	-	NC_000002.12:g.217848814A>C	gnomAD
rs1362898445	p.Ser445Arg	missense variant	-	NC_000002.12:g.217848807A>T	gnomAD
rs369539752	p.Gly446Asp	missense variant	-	NC_000002.12:g.217848805C>T	ESP,ExAC,TOPMed,gnomAD
rs1280559275	p.Gly446Cys	missense variant	-	NC_000002.12:g.217848806C>A	gnomAD
COSM6156628	p.Gly446Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848805C>A	NCI-TCGA Cosmic
rs1361093045	p.Leu449Ser	missense variant	-	NC_000002.12:g.217848796A>G	TOPMed
rs578261466	p.Arg451Gln	missense variant	-	NC_000002.12:g.217848790C>T	1000Genomes,ExAC,gnomAD
rs578261466	p.Arg451Pro	missense variant	-	NC_000002.12:g.217848790C>G	1000Genomes,ExAC,gnomAD
rs373256429	p.Lys453Asn	missense variant	-	NC_000002.12:g.217848783C>G	ESP
rs770522095	p.Ala456Thr	missense variant	-	NC_000002.12:g.217848776C>T	ExAC,TOPMed,gnomAD
rs556582105	p.Met457Thr	missense variant	-	NC_000002.12:g.217848772A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1396363796	p.Met457Ile	missense variant	-	NC_000002.12:g.217848771C>T	TOPMed
rs111921456	p.Thr460Ala	missense variant	-	NC_000002.12:g.217848764T>C	ExAC,gnomAD
rs111921456	p.Thr460Ser	missense variant	-	NC_000002.12:g.217848764T>A	ExAC,gnomAD
rs771629474	p.Thr460Asn	missense variant	-	NC_000002.12:g.217848763G>T	ExAC,gnomAD
rs1191243427	p.His462Asp	missense variant	-	NC_000002.12:g.217848758G>C	TOPMed,gnomAD
rs1191243427	p.His462Tyr	missense variant	-	NC_000002.12:g.217848758G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Leu463Ile	missense variant	-	NC_000002.12:g.217848755G>T	NCI-TCGA
rs1477340309	p.Ser465Tyr	missense variant	-	NC_000002.12:g.217848748G>T	TOPMed,gnomAD
rs368810573	p.Arg466Leu	missense variant	-	NC_000002.12:g.217848745C>A	ESP,ExAC,TOPMed,gnomAD
rs3815849	p.Arg466Cys	missense variant	-	NC_000002.12:g.217848746G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3815849	p.Arg466Gly	missense variant	-	NC_000002.12:g.217848746G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3815849	p.Arg466Ser	missense variant	-	NC_000002.12:g.217848746G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368810573	p.Arg466His	missense variant	-	NC_000002.12:g.217848745C>T	ESP,ExAC,TOPMed,gnomAD
COSM1669744	p.Pro467Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848742G>A	NCI-TCGA Cosmic
rs749281992	p.Ala468Gly	missense variant	-	NC_000002.12:g.217848739G>C	ExAC
rs1487448191	p.Gly469Trp	missense variant	-	NC_000002.12:g.217848737C>A	TOPMed,gnomAD
rs1487448191	p.Gly469Arg	missense variant	-	NC_000002.12:g.217848737C>G	TOPMed,gnomAD
rs757417754	p.Gly470Asp	missense variant	-	NC_000002.12:g.217848733C>T	ExAC,gnomAD
rs779836284	p.Gly470Ser	missense variant	-	NC_000002.12:g.217848734C>T	ExAC,gnomAD
COSM1405415	p.Gly470AlaPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.217848733C>-	NCI-TCGA Cosmic
rs376414331	p.Ser471Leu	missense variant	-	NC_000002.12:g.217848730G>A	ESP,ExAC,TOPMed,gnomAD
rs372920358	p.Val473Ala	missense variant	-	NC_000002.12:g.217848724A>G	ESP,ExAC,gnomAD
rs143281124	p.Pro474Leu	missense variant	-	NC_000002.12:g.217848721G>A	ESP,TOPMed
rs759870939	p.Ser475Phe	missense variant	-	NC_000002.12:g.217848718G>A	ExAC,gnomAD
rs765630721	p.Ser475Ala	missense variant	-	NC_000002.12:g.217848719A>C	ExAC,gnomAD
rs369908557	p.Ser476Cys	missense variant	-	NC_000002.12:g.217848715G>C	ESP,ExAC,TOPMed,gnomAD
rs146423363	p.Arg478Cys	missense variant	-	NC_000002.12:g.217848710G>A	ESP,ExAC,TOPMed,gnomAD
rs772611683	p.Arg478Pro	missense variant	-	NC_000002.12:g.217848709C>G	ExAC,TOPMed,gnomAD
rs772611683	p.Arg478His	missense variant	-	NC_000002.12:g.217848709C>T	ExAC,TOPMed,gnomAD
rs146423363	p.Arg478Ser	missense variant	-	NC_000002.12:g.217848710G>T	ESP,ExAC,TOPMed,gnomAD
rs373984284	p.His479Gln	missense variant	-	NC_000002.12:g.217848705G>C	ExAC,TOPMed,gnomAD
rs373984284	p.His479Gln	missense variant	-	NC_000002.12:g.217848705G>T	ExAC,TOPMed,gnomAD
rs768623481	p.Val480Ile	missense variant	-	NC_000002.12:g.217848704C>T	ExAC,gnomAD
rs749084085	p.Pro482Leu	missense variant	-	NC_000002.12:g.217848697G>A	ExAC
rs1429791085	p.His486Arg	missense variant	-	NC_000002.12:g.217848685T>C	TOPMed,gnomAD
rs1297337367	p.Asn488Ser	missense variant	-	NC_000002.12:g.217848679T>C	TOPMed
rs1431430256	p.Gly489Asp	missense variant	-	NC_000002.12:g.217848676C>T	TOPMed,gnomAD
COSM1136608	p.Gly490Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848673C>G	NCI-TCGA Cosmic
rs769628957	p.Ala491Thr	missense variant	-	NC_000002.12:g.217848671C>T	ExAC,gnomAD
rs1480965426	p.Ala493Thr	missense variant	-	NC_000002.12:g.217848665C>T	TOPMed,gnomAD
rs199538180	p.Arg496Gln	missense variant	-	NC_000002.12:g.217848655C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs758441152	p.Arg496Trp	missense variant	-	NC_000002.12:g.217848656G>A	ExAC,TOPMed,gnomAD
rs755401512	p.Thr498Ala	missense variant	-	NC_000002.12:g.217848650T>C	ExAC,gnomAD
rs181839905	p.Ile500Met	missense variant	-	NC_000002.12:g.217848642G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200207013	p.Leu501Met	missense variant	-	NC_000002.12:g.217848641G>T	ExAC,gnomAD
rs1378424926	p.Leu501Pro	missense variant	-	NC_000002.12:g.217848640A>G	gnomAD
rs200207013	p.Leu501Val	missense variant	-	NC_000002.12:g.217848641G>C	ExAC,gnomAD
rs1445648934	p.Asp503Asn	missense variant	-	NC_000002.12:g.217848635C>T	gnomAD
rs1406345149	p.Glu504Asp	missense variant	-	NC_000002.12:g.217848630T>G	gnomAD
rs920537811	p.Pro506Thr	missense variant	-	NC_000002.12:g.217848626G>T	TOPMed
rs1464301798	p.Asn507Ile	missense variant	-	NC_000002.12:g.217848622T>A	gnomAD
rs766980683	p.Gln508His	missense variant	-	NC_000002.12:g.217848618C>G	ExAC,gnomAD
COSM6090113	p.Gln508Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.217848620G>A	NCI-TCGA Cosmic
rs761389048	p.Asp509Tyr	missense variant	-	NC_000002.12:g.217848617C>A	ExAC,gnomAD
rs374052155	p.His511Tyr	missense variant	-	NC_000002.12:g.217848611G>A	ESP,ExAC,TOPMed,gnomAD
COSM1149026	p.His511Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848609G>C	NCI-TCGA Cosmic
rs1176830699	p.Ser512Ile	missense variant	-	NC_000002.12:g.217848607C>A	gnomAD
rs116507626	p.Ala513Glu	missense variant	-	NC_000002.12:g.217848604G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs116507626	p.Ala513Val	missense variant	-	NC_000002.12:g.217848604G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762633359	p.Ala513Thr	missense variant	-	NC_000002.12:g.217848605C>T	ExAC,gnomAD
rs1283306226	p.Ser515Asn	missense variant	-	NC_000002.12:g.217848598C>T	gnomAD
rs781165822	p.Met516Lys	missense variant	-	NC_000002.12:g.217848595A>T	ExAC,gnomAD
rs1240441670	p.Gly517Val	missense variant	-	NC_000002.12:g.217848592C>A	gnomAD
rs1228742782	p.Thr518Ile	missense variant	-	NC_000002.12:g.217848589G>A	gnomAD
rs1356442802	p.Leu519Phe	missense variant	-	NC_000002.12:g.217848587G>A	gnomAD
rs1238789705	p.Ser520Phe	missense variant	-	NC_000002.12:g.217848583G>A	gnomAD
COSM3798632	p.Ser520Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848584A>G	NCI-TCGA Cosmic
rs748219666	p.Ser521Phe	missense variant	-	NC_000002.12:g.217848580G>A	ExAC,TOPMed,gnomAD
rs755207540	p.Asp523Tyr	missense variant	-	NC_000002.12:g.217848575C>A	ExAC,gnomAD
rs754043363	p.Asp523Glu	missense variant	-	NC_000002.12:g.217848573G>T	ExAC,TOPMed,gnomAD
rs547038346	p.Gly524Arg	missense variant	-	NC_000002.12:g.217848572C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs750945272	p.Thr526Pro	missense variant	-	NC_000002.12:g.217848566T>G	ExAC,TOPMed,gnomAD
rs750945272	p.Thr526Ala	missense variant	-	NC_000002.12:g.217848566T>C	ExAC,TOPMed,gnomAD
rs1157000630	p.Asn527His	missense variant	-	NC_000002.12:g.217848563T>G	gnomAD
rs189921106	p.Asn527Thr	missense variant	-	NC_000002.12:g.217848562T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs189921106	p.Asn527Ser	missense variant	-	NC_000002.12:g.217848562T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs3796033	p.Thr528Ile	missense variant	-	NC_000002.12:g.217848559G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3796033	p.Thr528Ser	missense variant	-	NC_000002.12:g.217848559G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs549825709	p.Ser529Gly	missense variant	-	NC_000002.12:g.217848557T>C	1000Genomes,ExAC,gnomAD
rs762722991	p.Glu530Asp	missense variant	-	NC_000002.12:g.217848552C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly532AlaPheSerTerUnk	frameshift	-	NC_000002.12:g.217848547C>-	NCI-TCGA
rs1001970315	p.Gly532Val	missense variant	-	NC_000002.12:g.217848547C>A	TOPMed,gnomAD
rs1001970315	p.Gly532Ala	missense variant	-	NC_000002.12:g.217848547C>G	TOPMed,gnomAD
rs1200869972	p.Glu535Lys	missense variant	-	NC_000002.12:g.217848539C>T	TOPMed
rs759362727	p.Ala536Thr	missense variant	-	NC_000002.12:g.217848536C>T	ExAC,TOPMed,gnomAD
rs1468160337	p.Ala536Asp	missense variant	-	NC_000002.12:g.217848535G>T	TOPMed
rs770858410	p.Thr541Ile	missense variant	-	NC_000002.12:g.217848520G>A	ExAC,gnomAD
rs367726103	p.Asn542Lys	missense variant	-	NC_000002.12:g.217848516G>T	ESP,ExAC,TOPMed,gnomAD
rs1339485733	p.Asn542Ser	missense variant	-	NC_000002.12:g.217848517T>C	gnomAD
rs1020212472	p.Gly543Ser	missense variant	-	NC_000002.12:g.217848515C>T	TOPMed,gnomAD
rs373694993	p.Gly543Asp	missense variant	-	NC_000002.12:g.217848514C>T	ESP,ExAC,TOPMed,gnomAD
rs1165032068	p.Asp545Val	missense variant	-	NC_000002.12:g.217848508T>A	TOPMed,gnomAD
rs768682910	p.Lys546Glu	missense variant	-	NC_000002.12:g.217848506T>C	ExAC,TOPMed,gnomAD
rs1052573884	p.Lys546Asn	missense variant	-	NC_000002.12:g.217848504C>G	TOPMed
COSM4091372	p.Ser547Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848502G>A	NCI-TCGA Cosmic
rs957291523	p.Met550Thr	missense variant	-	NC_000002.12:g.217848493A>G	TOPMed,gnomAD
COSM1482761	p.Met550Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848494T>C	NCI-TCGA Cosmic
COSM270376	p.Pro552Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848487G>A	NCI-TCGA Cosmic
rs1350010708	p.Met553Ile	missense variant	-	NC_000002.12:g.217848483C>T	TOPMed
rs371147972	p.Met553Thr	missense variant	-	NC_000002.12:g.217848484A>G	ESP,TOPMed,gnomAD
rs1194856183	p.Val554Ala	missense variant	-	NC_000002.12:g.217848481A>G	gnomAD
rs1478976190	p.Asn555Ser	missense variant	-	NC_000002.12:g.217848478T>C	gnomAD
rs1261677872	p.Gly556Glu	missense variant	-	NC_000002.12:g.217848475C>T	gnomAD
rs1193520162	p.Gly558Asp	missense variant	-	NC_000002.12:g.217848469C>T	TOPMed,gnomAD
rs1193520162	p.Gly558Val	missense variant	-	NC_000002.12:g.217848469C>A	TOPMed,gnomAD
rs372897397	p.Pro560Ala	missense variant	-	NC_000002.12:g.217848464G>C	ESP,ExAC,TOPMed,gnomAD
rs372897397	p.Pro560Thr	missense variant	-	NC_000002.12:g.217848464G>T	ESP,ExAC,TOPMed,gnomAD
rs372897397	p.Pro560Ser	missense variant	-	NC_000002.12:g.217848464G>A	ESP,ExAC,TOPMed,gnomAD
rs890234778	p.Tyr561His	missense variant	-	NC_000002.12:g.217848461A>G	TOPMed
rs1220865873	p.Tyr561Cys	missense variant	-	NC_000002.12:g.217848460T>C	TOPMed
COSM1149025	p.Glu562Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848457T>A	NCI-TCGA Cosmic
rs757858485	p.Ser563Cys	missense variant	-	NC_000002.12:g.217848454G>C	ExAC,gnomAD
rs752070014	p.Ala564Thr	missense variant	-	NC_000002.12:g.217848452C>T	ExAC,TOPMed,gnomAD
rs143912099	p.Ala564Val	missense variant	-	NC_000002.12:g.217848451G>A	ESP,ExAC,TOPMed,gnomAD
rs531506212	p.Arg566Trp	missense variant	-	NC_000002.12:g.217848446G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs752348651	p.Arg566Gln	missense variant	-	NC_000002.12:g.217848445C>T	ExAC,gnomAD
rs752348651	p.Arg566Leu	missense variant	-	NC_000002.12:g.217848445C>A	ExAC,gnomAD
rs759042034	p.Ala567Gly	missense variant	-	NC_000002.12:g.217848442G>C	ExAC,TOPMed,gnomAD
rs759042034	p.Ala567Val	missense variant	-	NC_000002.12:g.217848442G>A	ExAC,TOPMed,gnomAD
rs766115642	p.Ala570Pro	missense variant	-	NC_000002.12:g.217848434C>G	ExAC,gnomAD
rs560954271	p.His571Pro	missense variant	-	NC_000002.12:g.217848430T>G	1000Genomes,ExAC,gnomAD
rs560954271	p.His571Arg	missense variant	-	NC_000002.12:g.217848430T>C	1000Genomes,ExAC,gnomAD
rs753938567	p.His571Gln	missense variant	-	NC_000002.12:g.217848429A>C	ExAC,TOPMed,gnomAD
COSM6090117	p.His571Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848431G>A	NCI-TCGA Cosmic
rs369171498	p.Ala572Thr	missense variant	-	NC_000002.12:g.217848428C>T	ESP,ExAC,TOPMed,gnomAD
rs147452506	p.Thr575Met	missense variant	-	NC_000002.12:g.217848418G>A	ESP,ExAC,TOPMed,gnomAD
rs1196139217	p.Ala576Val	missense variant	-	NC_000002.12:g.217848415G>A	gnomAD
rs724159922	p.Pro577Ser	missense variant	-	NC_000002.12:g.217848413G>A	ExAC,gnomAD
rs1156243679	p.Met578Ile	missense variant	-	NC_000002.12:g.217848408C>A	TOPMed
rs577075016	p.Arg579Gln	missense variant	-	NC_000002.12:g.217848406C>T	ExAC,gnomAD
rs200755457	p.Arg579Trp	missense variant	-	NC_000002.12:g.217848407G>A	1000Genomes,ExAC,gnomAD
rs200755457	p.Arg579Gly	missense variant	-	NC_000002.12:g.217848407G>C	1000Genomes,ExAC,gnomAD
rs1257250069	p.Tyr582Cys	missense variant	-	NC_000002.12:g.217848397T>C	gnomAD
rs778410785	p.Ser583Phe	missense variant	-	NC_000002.12:g.217848394G>A	ExAC,gnomAD
rs1402471985	p.Ala584Ser	missense variant	-	NC_000002.12:g.217848392C>A	TOPMed
COSM1405411	p.Ala584Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848392C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln585His	missense variant	-	NC_000002.12:g.217848387C>A	NCI-TCGA
rs1272939244	p.Glu586Lys	missense variant	-	NC_000002.12:g.217848386C>T	gnomAD
rs757912222	p.Glu586Asp	missense variant	-	NC_000002.12:g.217848384C>G	ExAC,gnomAD
rs752254760	p.Gly587Arg	missense variant	-	NC_000002.12:g.217848383C>G	ExAC,gnomAD
rs993104561	p.Gly587Asp	missense variant	-	NC_000002.12:g.217848382C>T	TOPMed,gnomAD
COSM1136606	p.Gly587Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848382C>A	NCI-TCGA Cosmic
rs148052560	p.Gln592Leu	missense variant	-	NC_000002.12:g.217848367T>A	ESP,ExAC,TOPMed,gnomAD
rs148052560	p.Gln592Arg	missense variant	-	NC_000002.12:g.217848367T>C	ESP,ExAC,TOPMed,gnomAD
rs1286209977	p.Arg593Thr	missense variant	-	NC_000002.12:g.217848364C>G	TOPMed
rs1415335815	p.Glu594Ala	missense variant	-	NC_000002.12:g.217848361T>G	gnomAD
rs980102459	p.Gly595Arg	missense variant	-	NC_000002.12:g.217848359C>T	TOPMed
rs1171286488	p.Pro596Ser	missense variant	-	NC_000002.12:g.217848356G>A	gnomAD
rs1360644108	p.His597Tyr	missense variant	-	NC_000002.12:g.217848353G>A	gnomAD
rs760441265	p.His597Pro	missense variant	-	NC_000002.12:g.217848352T>G	ExAC,gnomAD
rs767489478	p.Ala599Thr	missense variant	-	NC_000002.12:g.217848347C>T	ExAC,TOPMed,gnomAD
rs1237115106	p.Ala599Asp	missense variant	-	NC_000002.12:g.217848346G>T	gnomAD
rs1021797385	p.Gln602Glu	missense variant	-	NC_000002.12:g.217848338G>C	TOPMed,gnomAD
rs1276450921	p.Pro603Thr	missense variant	-	NC_000002.12:g.217848335G>T	gnomAD
rs1199846193	p.Val604Ala	missense variant	-	NC_000002.12:g.217848331A>G	TOPMed,gnomAD
rs775656073	p.Thr605Ile	missense variant	-	NC_000002.12:g.217848328G>A	ExAC
rs373147435	p.Thr606Ile	missense variant	-	NC_000002.12:g.217848325G>A	ESP,TOPMed
rs1242404681	p.Ser607Tyr	missense variant	-	NC_000002.12:g.217848322G>T	gnomAD
rs776966896	p.His608Arg	missense variant	-	NC_000002.12:g.217848319T>C	ExAC,gnomAD
rs1469251573	p.His608Tyr	missense variant	-	NC_000002.12:g.217848320G>A	TOPMed
rs771477176	p.His608Gln	missense variant	-	NC_000002.12:g.217848318G>T	ExAC,gnomAD
rs747372488	p.Tyr609Cys	missense variant	-	NC_000002.12:g.217848316T>C	ExAC,gnomAD
rs976774940	p.Ala610Thr	missense variant	-	NC_000002.12:g.217848314C>T	gnomAD
COSM4930912	p.Ala610Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848314C>A	NCI-TCGA Cosmic
rs772645301	p.Asp612Asn	missense variant	-	NC_000002.12:g.217848308C>T	ExAC,gnomAD
rs748553264	p.Pro613Arg	missense variant	-	NC_000002.12:g.217848304G>C	ExAC,gnomAD
rs892083995	p.Pro613Ala	missense variant	-	NC_000002.12:g.217848305G>C	TOPMed,gnomAD
COSM4091368	p.Pro613Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848305G>T	NCI-TCGA Cosmic
rs1379322696	p.Gly615Ser	missense variant	-	NC_000002.12:g.217848299C>T	TOPMed,gnomAD
rs754417823	p.Phe617Val	missense variant	-	NC_000002.12:g.217848293A>C	ExAC,gnomAD
rs199985548	p.Arg618His	missense variant	-	NC_000002.12:g.217848289C>T	ESP,ExAC,TOPMed,gnomAD
rs372703460	p.Arg618Cys	missense variant	-	NC_000002.12:g.217848290G>A	ESP,ExAC,TOPMed,gnomAD
rs372703460	p.Arg618Ser	missense variant	-	NC_000002.12:g.217848290G>T	ESP,ExAC,TOPMed,gnomAD
rs199985548	p.Arg618Leu	missense variant	-	NC_000002.12:g.217848289C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser619Thr	missense variant	-	NC_000002.12:g.217848287A>T	NCI-TCGA
rs761837861	p.Ser623Thr	missense variant	-	NC_000002.12:g.217848275A>T	ExAC,TOPMed,gnomAD
rs751419226	p.Ser623Leu	missense variant	-	NC_000002.12:g.217848274G>A	ExAC,TOPMed,gnomAD
rs144830902	p.Pro627Ser	missense variant	-	NC_000002.12:g.217848263G>A	ESP,TOPMed
NCI-TCGA novel	p.Gln628Leu	missense variant	-	NC_000002.12:g.217848259T>A	NCI-TCGA
rs759671156	p.Gln628Arg	missense variant	-	NC_000002.12:g.217848259T>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro630His	missense variant	-	NC_000002.12:g.217848253G>T	NCI-TCGA
NCI-TCGA novel	p.Pro630Ser	missense variant	-	NC_000002.12:g.217848254G>A	NCI-TCGA
rs1282862723	p.Pro630Leu	missense variant	-	NC_000002.12:g.217848253G>A	gnomAD
rs369268825	p.Ala632Pro	missense variant	-	NC_000002.12:g.217848248C>G	ESP,TOPMed,gnomAD
rs771281003	p.Ala632Val	missense variant	-	NC_000002.12:g.217848247G>A	ExAC,gnomAD
rs375153588	p.Pro633Leu	missense variant	-	NC_000002.12:g.217848244G>A	ESP,ExAC,TOPMed,gnomAD
rs1201967243	p.Pro633Ser	missense variant	-	NC_000002.12:g.217848245G>A	TOPMed
rs1164840887	p.Val634Ile	missense variant	-	NC_000002.12:g.217848242C>T	gnomAD
rs372143060	p.Arg635Gln	missense variant	-	NC_000002.12:g.217848238C>T	ESP,TOPMed
rs748730030	p.Gly636Trp	missense variant	-	NC_000002.12:g.217848236C>A	ExAC,TOPMed,gnomAD
rs748730030	p.Gly636Arg	missense variant	-	NC_000002.12:g.217848236C>T	ExAC,TOPMed,gnomAD
rs1477993595	p.Gly637Glu	missense variant	-	NC_000002.12:g.217848232C>T	gnomAD
COSM1405409	p.Gly637GluPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.217848232C>-	NCI-TCGA Cosmic
rs779267125	p.Ser638Asn	missense variant	-	NC_000002.12:g.217848229C>T	ExAC,gnomAD
rs1191367282	p.Ser638Gly	missense variant	-	NC_000002.12:g.217848230T>C	gnomAD
rs768272522	p.Ser639Ile	missense variant	-	NC_000002.12:g.217848226C>A	ExAC,gnomAD
rs1287918285	p.Arg640Gln	missense variant	-	NC_000002.12:g.217848223C>T	TOPMed,gnomAD
rs907813420	p.Arg640Trp	missense variant	-	NC_000002.12:g.217848224G>A	TOPMed,gnomAD
rs748795797	p.Glu641Lys	missense variant	-	NC_000002.12:g.217848221C>T	ExAC,TOPMed,gnomAD
rs368772929	p.Val643Leu	missense variant	-	NC_000002.12:g.217848215C>A	ESP,ExAC,TOPMed,gnomAD
rs1015716797	p.Arg645Lys	missense variant	-	NC_000002.12:g.217848208C>T	TOPMed
rs1293678443	p.Arg645Ser	missense variant	-	NC_000002.12:g.217848207C>G	gnomAD
rs1347772931	p.Gly646Glu	missense variant	-	NC_000002.12:g.217848205C>T	gnomAD
rs1437910056	p.Gly646Arg	missense variant	-	NC_000002.12:g.217848206C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Leu647ThrPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.217848204_217848205insC	NCI-TCGA
rs1163575208	p.Leu647Pro	missense variant	-	NC_000002.12:g.217848202A>G	gnomAD
rs751570460	p.Ser649Pro	missense variant	-	NC_000002.12:g.217848197A>G	ExAC
rs763931538	p.Ser649Leu	missense variant	-	NC_000002.12:g.217848196G>A	ExAC,TOPMed,gnomAD
rs766517070	p.Trp650Cys	missense variant	-	NC_000002.12:g.217848192C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln651His	missense variant	-	NC_000002.12:g.217848189C>A	NCI-TCGA
rs1477493247	p.Gln651Lys	missense variant	-	NC_000002.12:g.217848191G>T	gnomAD
rs544596911	p.Gln651Arg	missense variant	-	NC_000002.12:g.217848190T>C	1000Genomes,TOPMed
NCI-TCGA novel	p.Gln652Ter	stop gained	-	NC_000002.12:g.217848188G>A	NCI-TCGA
rs1368258123	p.Gln653Arg	missense variant	-	NC_000002.12:g.217848184T>C	gnomAD
rs761008694	p.Gln657His	missense variant	-	NC_000002.12:g.217848171C>A	ExAC,gnomAD
rs574153391	p.Pro660Ser	missense variant	-	NC_000002.12:g.217848164G>A	1000Genomes,ExAC,gnomAD
rs767974267	p.Arg661Cys	missense variant	-	NC_000002.12:g.217848161G>A	ExAC,TOPMed,gnomAD
rs762073103	p.Arg661His	missense variant	-	NC_000002.12:g.217848160C>T	ExAC,TOPMed,gnomAD
rs762073103	p.Arg661Pro	missense variant	-	NC_000002.12:g.217848160C>G	ExAC,TOPMed,gnomAD
rs774991200	p.Pro662Leu	missense variant	-	NC_000002.12:g.217848157G>A	ExAC,gnomAD
rs1217182612	p.Pro663Leu	missense variant	-	NC_000002.12:g.217848154G>A	gnomAD
rs1324164444	p.Pro664Ser	missense variant	-	NC_000002.12:g.217848152G>A	TOPMed
rs775007214	p.Arg665Cys	missense variant	-	NC_000002.12:g.217848149G>A	ExAC,TOPMed,gnomAD
rs775007214	p.Arg665Ser	missense variant	-	NC_000002.12:g.217848149G>T	ExAC,TOPMed,gnomAD
rs372848151	p.Arg665His	missense variant	-	NC_000002.12:g.217848148C>T	ESP,ExAC,TOPMed,gnomAD
rs149540382	p.Gln666His	missense variant	-	NC_000002.12:g.217848144C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1447138151	p.Gln667Glu	missense variant	-	NC_000002.12:g.217848143G>C	gnomAD
rs1461887582	p.Glu668Ala	missense variant	-	NC_000002.12:g.217848139T>G	gnomAD
rs1402017726	p.Ala670Val	missense variant	-	NC_000002.12:g.217848133G>A	gnomAD
rs1378305494	p.Leu675Pro	missense variant	-	NC_000002.12:g.217848118A>G	TOPMed,gnomAD
rs746783171	p.Val676Ile	missense variant	-	NC_000002.12:g.217848116C>T	ExAC,gnomAD
rs1489192158	p.Ala677Val	missense variant	-	NC_000002.12:g.217848112G>A	TOPMed
rs1178091102	p.Ser678Gly	missense variant	-	NC_000002.12:g.217848110T>C	gnomAD
rs1431334368	p.Ser678Asn	missense variant	-	NC_000002.12:g.217848109C>T	TOPMed,gnomAD
rs777565113	p.Arg679Lys	missense variant	-	NC_000002.12:g.217848106C>T	ExAC,gnomAD
rs1240189452	p.Ser681Arg	missense variant	-	NC_000002.12:g.217848099G>T	TOPMed,gnomAD
rs1197163253	p.Pro682Leu	missense variant	-	NC_000002.12:g.217848097G>A	gnomAD
COSM4091366	p.Gln683Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217848094T>C	NCI-TCGA Cosmic
rs1480483702	p.Pro684Ser	missense variant	-	NC_000002.12:g.217848092G>A	gnomAD
rs1212909557	p.Ala686Thr	missense variant	-	NC_000002.12:g.217848086C>T	gnomAD
rs750717406	p.Glu687Ala	missense variant	-	NC_000002.12:g.217848082T>G	ExAC,gnomAD
rs61745187	p.Thr688Asn	missense variant	-	NC_000002.12:g.217848079G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61745187	p.Thr688Ile	missense variant	-	NC_000002.12:g.217848079G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1478340932	p.Pro691Ala	missense variant	-	NC_000002.12:g.217848071G>C	TOPMed
rs1390633164	p.Pro691Leu	missense variant	-	NC_000002.12:g.217848070G>A	gnomAD
rs763485297	p.Ser692Gly	missense variant	-	NC_000002.12:g.217848068T>C	ExAC,gnomAD
rs1464530117	p.Pro697Ser	missense variant	-	NC_000002.12:g.217848053G>A	gnomAD
rs150626193	p.Pro697Leu	missense variant	-	NC_000002.12:g.217848052G>A	ESP,ExAC,TOPMed,gnomAD
rs1008369422	p.Arg698Gln	missense variant	-	NC_000002.12:g.217848049C>T	TOPMed,gnomAD
rs889961871	p.Ala700Val	missense variant	-	NC_000002.12:g.217848043G>A	TOPMed
rs913987467	p.Ser701Phe	missense variant	-	NC_000002.12:g.217848040G>A	-
rs746622492	p.Gln703Arg	missense variant	-	NC_000002.12:g.217848034T>C	ExAC,gnomAD
rs746622492	p.Gln703Pro	missense variant	-	NC_000002.12:g.217848034T>G	ExAC,gnomAD
rs1183959797	p.Ile705Thr	missense variant	-	NC_000002.12:g.217848028A>G	TOPMed,gnomAD
rs777741641	p.Glu706Gly	missense variant	-	NC_000002.12:g.217848025T>C	ExAC,gnomAD
rs771961473	p.Ile709Leu	missense variant	-	NC_000002.12:g.217848017T>G	ExAC,TOPMed,gnomAD
rs771961473	p.Ile709Phe	missense variant	-	NC_000002.12:g.217848017T>A	ExAC,TOPMed,gnomAD
rs936651143	p.Ile709Met	missense variant	-	NC_000002.12:g.217848015G>C	TOPMed
rs200562336	p.Glu710Lys	missense variant	-	NC_000002.12:g.217848014C>T	ExAC,TOPMed,gnomAD
rs200562336	p.Glu710Gln	missense variant	-	NC_000002.12:g.217848014C>G	ExAC,TOPMed,gnomAD
rs756330338	p.Thr711Arg	missense variant	-	NC_000002.12:g.217848010G>C	ExAC,gnomAD
rs750475531	p.Asn713Ser	missense variant	-	NC_000002.12:g.217848004T>C	ExAC,TOPMed,gnomAD
rs1259703443	p.Asn713His	missense variant	-	NC_000002.12:g.217848005T>G	TOPMed
rs762681326	p.Met714Val	missense variant	-	NC_000002.12:g.217848002T>C	ExAC,TOPMed,gnomAD
rs751768935	p.Asp718Gly	missense variant	-	NC_000002.12:g.217847989T>C	ExAC,gnomAD
rs373809671	p.Asp718Glu	missense variant	-	NC_000002.12:g.217847988G>C	ESP,ExAC,TOPMed,gnomAD
rs1419505029	p.Leu719Gln	missense variant	-	NC_000002.12:g.217847986A>T	gnomAD
rs1181592489	p.Ala722Val	missense variant	-	NC_000002.12:g.217847977G>A	TOPMed
rs765735014	p.Ala724Thr	missense variant	-	NC_000002.12:g.217847972C>T	ExAC,TOPMed,gnomAD
rs1420420335	p.Ala725Asp	missense variant	-	NC_000002.12:g.217847968G>T	gnomAD
rs1362584451	p.Ala726Thr	missense variant	-	NC_000002.12:g.217847966C>T	gnomAD
rs776024783	p.His729Tyr	missense variant	-	NC_000002.12:g.217847957G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser731Phe	missense variant	-	NC_000002.12:g.217847950G>A	NCI-TCGA
rs181295117	p.Ser731Thr	missense variant	-	NC_000002.12:g.217847951A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1474401767	p.Gln732Arg	missense variant	-	NC_000002.12:g.217847947T>C	TOPMed,gnomAD
rs772978329	p.Ser733Asn	missense variant	-	NC_000002.12:g.217847944C>T	ExAC,TOPMed,gnomAD
rs772978329	p.Ser733Thr	missense variant	-	NC_000002.12:g.217847944C>G	ExAC,TOPMed,gnomAD
rs141087902	p.Gly736Arg	missense variant	-	NC_000002.12:g.217847936C>T	ESP,ExAC,TOPMed,gnomAD
rs141087902	p.Gly736Arg	missense variant	-	NC_000002.12:g.217847936C>G	ESP,ExAC,TOPMed,gnomAD
rs781165235	p.Ala737Ser	missense variant	-	NC_000002.12:g.217847933C>A	ExAC,TOPMed,gnomAD
rs781165235	p.Ala737Pro	missense variant	-	NC_000002.12:g.217847933C>G	ExAC,TOPMed,gnomAD
rs145524148	p.Pro739Leu	missense variant	-	NC_000002.12:g.217847926G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly740Arg	missense variant	-	NC_000002.12:g.217847924C>G	NCI-TCGA
rs61738776	p.Ala741Thr	missense variant	-	NC_000002.12:g.217847921C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61738776	p.Ala741Pro	missense variant	-	NC_000002.12:g.217847921C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1333834798	p.Ser742Phe	missense variant	-	NC_000002.12:g.217847917G>A	gnomAD
rs142336567	p.Leu744Phe	missense variant	-	NC_000002.12:g.217847912G>A	ESP,ExAC,gnomAD
rs753070843	p.Ser746Phe	missense variant	-	NC_000002.12:g.217847905G>A	ExAC,gnomAD
rs1338318553	p.Ser746Pro	missense variant	-	NC_000002.12:g.217847906A>G	gnomAD
rs1381661014	p.Gln747Arg	missense variant	-	NC_000002.12:g.217847902T>C	gnomAD
rs765535009	p.Gln747His	missense variant	-	NC_000002.12:g.217847901C>G	ExAC,TOPMed,gnomAD
rs1295465643	p.Pro748Thr	missense variant	-	NC_000002.12:g.217847900G>T	gnomAD
rs1295465643	p.Pro748Ser	missense variant	-	NC_000002.12:g.217847900G>A	gnomAD
rs1460041160	p.Pro748Arg	missense variant	-	NC_000002.12:g.217847899G>C	TOPMed,gnomAD
rs759990832	p.Leu749Phe	missense variant	-	NC_000002.12:g.217847897G>A	ExAC,gnomAD
rs754339668	p.Leu749Pro	missense variant	-	NC_000002.12:g.217847896A>G	ExAC,gnomAD
rs765855257	p.Gly751Arg	missense variant	-	NC_000002.12:g.217847891C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser752Phe	missense variant	-	NC_000002.12:g.217847887G>A	NCI-TCGA
rs774313703	p.Arg754His	missense variant	-	NC_000002.12:g.217847881C>T	ExAC,TOPMed,gnomAD
rs146037843	p.Arg754Cys	missense variant	-	NC_000002.12:g.217847882G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs527485216	p.Gln755Arg	missense variant	-	NC_000002.12:g.217847878T>C	1000Genomes,ExAC,gnomAD
rs527485216	p.Gln755Pro	missense variant	-	NC_000002.12:g.217847878T>G	1000Genomes,ExAC,gnomAD
rs1220234903	p.His757Gln	missense variant	-	NC_000002.12:g.217847871A>T	TOPMed,gnomAD
rs369048650	p.His757Tyr	missense variant	-	NC_000002.12:g.217847873G>A	TOPMed
rs770979304	p.Thr760Ser	missense variant	-	NC_000002.12:g.217847863G>C	ExAC,gnomAD
rs1173853157	p.Gln761Glu	missense variant	-	NC_000002.12:g.217847861G>C	TOPMed
COSM1405407	p.Ser762Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217847858A>G	NCI-TCGA Cosmic
rs1360733647	p.Ser764Ala	missense variant	-	NC_000002.12:g.217847852A>C	TOPMed
rs148228479	p.Gly765Ser	missense variant	-	NC_000002.12:g.217847849C>T	ESP,ExAC,TOPMed,gnomAD
rs1331792751	p.Tyr766Asn	missense variant	-	NC_000002.12:g.217847846A>T	TOPMed,gnomAD
rs1331792751	p.Tyr766His	missense variant	-	NC_000002.12:g.217847846A>G	TOPMed,gnomAD
rs1448376365	p.Tyr766Cys	missense variant	-	NC_000002.12:g.217847845T>C	TOPMed
rs560530498	p.Ile767Val	missense variant	-	NC_000002.12:g.217847843T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs779185044	p.Ser769Gly	missense variant	-	NC_000002.12:g.217847837T>C	ExAC,gnomAD
rs199828534	p.Gly770Arg	missense variant	-	NC_000002.12:g.217847834C>T	1000Genomes,ExAC,gnomAD
rs754360873	p.His771Arg	missense variant	-	NC_000002.12:g.217847830T>C	ExAC,gnomAD
COSM2150574	p.His771Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217847831G>A	NCI-TCGA Cosmic
rs533327665	p.Ser772Leu	missense variant	-	NC_000002.12:g.217847827G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM6090119	p.Gly774Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217847822C>T	NCI-TCGA Cosmic
rs1191190808	p.Pro776Ser	missense variant	-	NC_000002.12:g.217847816G>A	gnomAD
rs1234357785	p.Pro776Leu	missense variant	-	NC_000002.12:g.217847815G>A	TOPMed
rs143009413	p.Glu777Gln	missense variant	-	NC_000002.12:g.217847813C>G	ESP
rs774119211	p.Pro778Gln	missense variant	-	NC_000002.12:g.217847809G>T	ExAC,gnomAD
rs200420863	p.Ala779Asp	missense variant	-	NC_000002.12:g.217847806G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs373342242	p.Pro780Leu	missense variant	-	NC_000002.12:g.217847803G>A	ESP,ExAC,gnomAD
rs189799955	p.Pro780Ser	missense variant	-	NC_000002.12:g.217847804G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772107236	p.Arg781Pro	missense variant	-	NC_000002.12:g.217847800C>G	ExAC,gnomAD
rs772107236	p.Arg781Gln	missense variant	-	NC_000002.12:g.217847800C>T	ExAC,gnomAD
rs540388747	p.Arg781Trp	missense variant	-	NC_000002.12:g.217847801G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1232087218	p.Ala782Ser	missense variant	-	NC_000002.12:g.217847798C>A	TOPMed,gnomAD
rs748417743	p.Ser783Tyr	missense variant	-	NC_000002.12:g.217847794G>T	ExAC,TOPMed,gnomAD
rs748417743	p.Ser783Phe	missense variant	-	NC_000002.12:g.217847794G>A	ExAC,TOPMed,gnomAD
rs1449513903	p.Ser786Phe	missense variant	-	NC_000002.12:g.217847785G>A	gnomAD
rs1057008329	p.Val787Phe	missense variant	-	NC_000002.12:g.217847783C>A	TOPMed
rs1258214177	p.Pro788Leu	missense variant	-	NC_000002.12:g.217847779G>A	gnomAD
rs724159923	p.Pro788Ser	missense variant	-	NC_000002.12:g.217847780G>A	-
rs1415601997	p.Gly790Val	missense variant	-	NC_000002.12:g.217847773C>A	gnomAD
rs1003199061	p.Gly790Ser	missense variant	-	NC_000002.12:g.217847774C>T	TOPMed,gnomAD
rs1433505655	p.Pro795Ser	missense variant	-	NC_000002.12:g.217847759G>A	gnomAD
rs756712481	p.Asp797His	missense variant	-	NC_000002.12:g.217847753C>G	ExAC,TOPMed,gnomAD
rs1180167067	p.Tyr798Ser	missense variant	-	NC_000002.12:g.217847749T>G	TOPMed,gnomAD
rs199601582	p.Gln799His	missense variant	-	NC_000002.12:g.217847745C>G	ESP,ExAC,TOPMed,gnomAD
rs147116178	p.Cys801Tyr	missense variant	-	NC_000002.12:g.217847740C>T	ESP,ExAC,TOPMed,gnomAD
rs767179961	p.Cys801Arg	missense variant	-	NC_000002.12:g.217847741A>G	ExAC,gnomAD
rs751233413	p.Ala803Ser	missense variant	-	NC_000002.12:g.217847735C>A	ExAC,gnomAD
rs1208851004	p.Pro805Arg	missense variant	-	NC_000002.12:g.217847728G>C	TOPMed,gnomAD
rs141901890	p.Asn806His	missense variant	-	NC_000002.12:g.217847726T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1225739671	p.Asp808Val	missense variant	-	NC_000002.12:g.217847719T>A	gnomAD
rs1316443445	p.His810Tyr	missense variant	-	NC_000002.12:g.217847714G>A	TOPMed
rs759508942	p.His810Arg	missense variant	-	NC_000002.12:g.217847713T>C	ExAC,TOPMed,gnomAD
rs1205380363	p.Lys812Arg	missense variant	-	NC_000002.12:g.217847707T>C	TOPMed,gnomAD
rs1449130032	p.Ser813Ile	missense variant	-	NC_000002.12:g.217847704C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala815Val	missense variant	-	NC_000002.12:g.217847698G>A	NCI-TCGA
rs1219411306	p.Ala815Asp	missense variant	-	NC_000002.12:g.217847698G>T	TOPMed
rs774230307	p.Ser817Phe	missense variant	-	NC_000002.12:g.217847692G>A	ExAC,TOPMed,gnomAD
rs749424786	p.Ser818Tyr	missense variant	-	NC_000002.12:g.217847689G>T	ExAC,gnomAD
rs1406702679	p.Pro820Ser	missense variant	-	NC_000002.12:g.217847684G>A	gnomAD
rs770255073	p.Phe822Tyr	missense variant	-	NC_000002.12:g.217847677A>T	ExAC,TOPMed,gnomAD
rs781762364	p.Leu823Arg	missense variant	-	NC_000002.12:g.217847674A>C	ExAC,gnomAD
rs567400983	p.Pro824Leu	missense variant	-	NC_000002.12:g.217847671G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751089957	p.Thr825Ile	missense variant	-	NC_000002.12:g.217847668G>A	ExAC,gnomAD
rs1412575268	p.Thr825Ala	missense variant	-	NC_000002.12:g.217847669T>C	TOPMed
rs1283759236	p.Ser828Asn	missense variant	-	NC_000002.12:g.217847659C>T	gnomAD
rs752258617	p.Gln833Arg	missense variant	-	NC_000002.12:g.217847644T>C	ExAC,gnomAD
rs367588026	p.Pro835Ser	missense variant	-	NC_000002.12:g.217847639G>A	ESP,ExAC,TOPMed,gnomAD
rs367588026	p.Pro835Thr	missense variant	-	NC_000002.12:g.217847639G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro836Gln	missense variant	-	NC_000002.12:g.217847635G>T	NCI-TCGA
NCI-TCGA novel	p.Pro836Ala	missense variant	-	NC_000002.12:g.217847636G>C	NCI-TCGA
rs766308521	p.Ser838Pro	missense variant	-	NC_000002.12:g.217847630A>G	ExAC,gnomAD
rs760473150	p.Leu839Phe	missense variant	-	NC_000002.12:g.217847627G>A	ExAC,TOPMed,gnomAD
rs1344259072	p.Leu839Arg	missense variant	-	NC_000002.12:g.217847626A>C	gnomAD
rs774513166	p.Pro840Ser	missense variant	-	NC_000002.12:g.217847624G>A	ExAC,gnomAD
rs1406712269	p.Gly841Asp	missense variant	-	NC_000002.12:g.217847620C>T	gnomAD
rs1163934227	p.Thr843Asn	missense variant	-	NC_000002.12:g.217847614G>T	gnomAD
rs770344637	p.Ala844Val	missense variant	-	NC_000002.12:g.217847611G>A	ExAC,gnomAD
rs775556360	p.Ala844Thr	missense variant	-	NC_000002.12:g.217847612C>T	ExAC,gnomAD
rs775556360	p.Ala844Pro	missense variant	-	NC_000002.12:g.217847612C>G	ExAC,gnomAD
rs1188374931	p.Gln845Glu	missense variant	-	NC_000002.12:g.217847609G>C	gnomAD
rs1484907021	p.Leu848Phe	missense variant	-	NC_000002.12:g.217847600G>A	gnomAD
COSM418873	p.Ser849Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217847596G>A	NCI-TCGA Cosmic
rs775327512	p.Pro850Thr	missense variant	-	NC_000002.12:g.217847594G>T	ExAC,TOPMed,gnomAD
rs775327512	p.Pro850Ser	missense variant	-	NC_000002.12:g.217847594G>A	ExAC,TOPMed,gnomAD
rs1469982283	p.Glu852Lys	missense variant	-	NC_000002.12:g.217847588C>T	TOPMed,gnomAD
rs139522869	p.Ala853Val	missense variant	-	NC_000002.12:g.217847584G>A	ESP,ExAC,TOPMed,gnomAD
rs139522869	p.Ala853Glu	missense variant	-	NC_000002.12:g.217847584G>T	ESP,ExAC,TOPMed,gnomAD
rs566694767	p.Thr854Ile	missense variant	-	NC_000002.12:g.217847581G>A	1000Genomes,ExAC,gnomAD
rs1402675784	p.Asp856Val	missense variant	-	NC_000002.12:g.217847575T>A	TOPMed,gnomAD
rs1402675784	p.Asp856Gly	missense variant	-	NC_000002.12:g.217847575T>C	TOPMed,gnomAD
rs752451216	p.Pro857Ser	missense variant	-	NC_000002.12:g.217847573G>A	ExAC,gnomAD
rs752451216	p.Pro857Thr	missense variant	-	NC_000002.12:g.217847573G>T	ExAC,gnomAD
rs61746994	p.Arg859Trp	missense variant	-	NC_000002.12:g.217847567G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754558568	p.Arg859Gln	missense variant	-	NC_000002.12:g.217847566C>T	ExAC,gnomAD
rs1194035054	p.Pro861Ser	missense variant	-	NC_000002.12:g.217847561G>A	TOPMed
rs1236550155	p.Pro861Leu	missense variant	-	NC_000002.12:g.217847560G>A	TOPMed
rs760699745	p.Glu864Asp	missense variant	-	NC_000002.12:g.217847550C>G	ExAC,gnomAD
rs750300085	p.Pro865Leu	missense variant	-	NC_000002.12:g.217847548G>A	ExAC,TOPMed,gnomAD
rs1324977526	p.Leu866Phe	missense variant	-	NC_000002.12:g.217847544C>A	gnomAD
rs533297763	p.Asn867Asp	missense variant	-	NC_000002.12:g.217847543T>C	1000Genomes,ExAC,gnomAD
COSM1016268	p.Asn867Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217847542T>G	NCI-TCGA Cosmic
rs146606722	p.Glu869Lys	missense variant	-	NC_000002.12:g.217847537C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly870Glu	missense variant	-	NC_000002.12:g.217847533C>T	NCI-TCGA
rs1168284402	p.Gly870Arg	missense variant	-	NC_000002.12:g.217847534C>G	TOPMed,gnomAD
rs775925102	p.Leu871Arg	missense variant	-	NC_000002.12:g.217847530A>C	ExAC,gnomAD
rs1158596804	p.Val872Met	missense variant	-	NC_000002.12:g.217847528C>T	TOPMed
NCI-TCGA novel	p.Ala873Val	missense variant	-	NC_000002.12:g.217847524G>A	NCI-TCGA
rs759780230	p.Ala873Gly	missense variant	-	NC_000002.12:g.217847524G>C	ExAC,gnomAD
rs765565136	p.Ala873Thr	missense variant	-	NC_000002.12:g.217847525C>T	ExAC,TOPMed,gnomAD
rs1167058357	p.His874Tyr	missense variant	-	NC_000002.12:g.217847522G>A	gnomAD
rs1474159591	p.Arg875Ser	missense variant	-	NC_000002.12:g.217847517C>G	gnomAD
rs146943559	p.Val876Ile	missense variant	-	NC_000002.12:g.217847516C>T	ESP,ExAC,TOPMed,gnomAD
rs550744297	p.Ala877Thr	missense variant	-	NC_000002.12:g.217847513C>T	1000Genomes,ExAC,gnomAD
rs1278710166	p.Val879Ala	missense variant	-	NC_000002.12:g.217836208A>G	gnomAD
rs753904352	p.Gln880His	missense variant	-	NC_000002.12:g.217836204C>A	ExAC,TOPMed,gnomAD
rs200499669	p.Arg882Gln	missense variant	-	NC_000002.12:g.217836199C>T	ESP,ExAC,TOPMed,gnomAD
rs200499669	p.Arg882Leu	missense variant	-	NC_000002.12:g.217836199C>A	ESP,ExAC,TOPMed,gnomAD
rs1328320319	p.Arg882Trp	missense variant	-	NC_000002.12:g.217836200G>A	TOPMed,gnomAD
rs768109006	p.Glu883Lys	missense variant	-	NC_000002.12:g.217836197C>T	NCI-TCGA
rs768109006	p.Glu883Lys	missense variant	-	NC_000002.12:g.217836197C>T	ExAC,gnomAD
rs762123934	p.Glu883Gly	missense variant	-	NC_000002.12:g.217836196T>C	ExAC,gnomAD
COSM1016266	p.Glu883Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217836195C>A	NCI-TCGA Cosmic
COSM1016267	p.Glu883Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217836196T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys884Glu	missense variant	-	NC_000002.12:g.217836194T>C	NCI-TCGA
rs199952375	p.Lys884Arg	missense variant	-	NC_000002.12:g.217836193T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1394430360	p.Pro886Ala	missense variant	-	NC_000002.12:g.217836188G>C	TOPMed,gnomAD
rs1476661290	p.Ala887Thr	missense variant	-	NC_000002.12:g.217836185C>T	NCI-TCGA Cosmic
rs768237080	p.Ala887Val	missense variant	-	NC_000002.12:g.217836184G>A	ExAC,gnomAD
rs1476661290	p.Ala887Thr	missense variant	-	NC_000002.12:g.217836185C>T	TOPMed,gnomAD
rs1286690610	p.Pro889Ser	missense variant	-	NC_000002.12:g.217836179G>A	TOPMed
rs775275964	p.Ala891Val	missense variant	-	NC_000002.12:g.217836172G>A	ExAC,gnomAD
rs775275964	p.Ala891Gly	missense variant	-	NC_000002.12:g.217836172G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala891Ser	missense variant	-	NC_000002.12:g.217836173C>A	NCI-TCGA
NCI-TCGA novel	p.Pro892LeuPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.217836169G>-	NCI-TCGA
rs769170290	p.Pro892Leu	missense variant	-	NC_000002.12:g.217836169G>A	ExAC,TOPMed,gnomAD
rs750186190	p.Arg894Gln	missense variant	-	NC_000002.12:g.217836163C>T	ExAC,TOPMed,gnomAD
rs745427493	p.Arg894Trp	missense variant	-	NC_000002.12:g.217836164G>A	ExAC,TOPMed,gnomAD
rs201163809	p.Arg896Trp	missense variant	-	NC_000002.12:g.217836158G>A	NCI-TCGA,NCI-TCGA Cosmic
rs746744855	p.Arg896Gln	missense variant	-	NC_000002.12:g.217836157C>T	ExAC,TOPMed,gnomAD
rs201163809	p.Arg896Trp	missense variant	-	NC_000002.12:g.217836158G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs777716939	p.Ala897Val	missense variant	-	NC_000002.12:g.217836154G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala898Thr	missense variant	-	NC_000002.12:g.217836152C>T	NCI-TCGA
rs754099693	p.Asp900Asn	missense variant	-	NC_000002.12:g.217836146C>T	ExAC,gnomAD
rs1468313247	p.Tyr903Cys	missense variant	-	NC_000002.12:g.217836136T>C	gnomAD
rs780372233	p.Glu904Lys	missense variant	-	NC_000002.12:g.217836134C>T	ExAC,gnomAD
COSM4833700	p.Glu904Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217836134C>G	NCI-TCGA Cosmic
COSM1016265	p.Glu904Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217836132C>A	NCI-TCGA Cosmic
rs957576016	p.Gln906Arg	missense variant	-	NC_000002.12:g.217836127T>C	TOPMed
rs1336736255	p.Ser907Tyr	missense variant	-	NC_000002.12:g.217836124G>T	TOPMed
COSM4091361	p.Ser907Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217836125A>G	NCI-TCGA Cosmic
rs1329946725	p.Glu909Lys	missense variant	-	NC_000002.12:g.217836119C>T	gnomAD
rs767860513	p.Thr911Lys	missense variant	-	NC_000002.12:g.217836112G>T	ExAC,gnomAD
rs750546121	p.Thr911Pro	missense variant	-	NC_000002.12:g.217836113T>G	ExAC
rs762318273	p.Ser912Tyr	missense variant	-	NC_000002.12:g.217836109G>T	ExAC,TOPMed,gnomAD
rs762318273	p.Ser912Phe	missense variant	-	NC_000002.12:g.217836109G>A	ExAC,TOPMed,gnomAD
rs141836163	p.Pro913Leu	missense variant	-	NC_000002.12:g.217836106G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373575970	p.Pro913Ala	missense variant	-	NC_000002.12:g.217836107G>C	ESP,ExAC,TOPMed,gnomAD
COSM4913074	p.Pro913His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217836106G>T	NCI-TCGA Cosmic
rs186255060	p.Arg914His	missense variant	-	NC_000002.12:g.217836103C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs186255060	p.Arg914Pro	missense variant	-	NC_000002.12:g.217836103C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1274478864	p.Arg914Cys	missense variant	-	NC_000002.12:g.217836104G>A	TOPMed
rs186255060	p.Arg914Leu	missense variant	-	NC_000002.12:g.217836103C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs186255060	p.Arg914His	missense variant	-	NC_000002.12:g.217836103C>T	NCI-TCGA,NCI-TCGA Cosmic
rs145224148	p.Ser915Asn	missense variant	-	NC_000002.12:g.217836100C>T	ESP,TOPMed
rs1233303047	p.Gly917Glu	missense variant	-	NC_000002.12:g.217836094C>T	TOPMed,gnomAD
rs1233303047	p.Gly917Ala	missense variant	-	NC_000002.12:g.217836094C>G	TOPMed,gnomAD
rs140634729	p.Val918Asp	missense variant	-	NC_000002.12:g.217836091A>T	ESP,ExAC,TOPMed,gnomAD
rs758924814	p.Val918Phe	missense variant	-	NC_000002.12:g.217836092C>A	ExAC,gnomAD
rs758924814	p.Val918Ile	missense variant	-	NC_000002.12:g.217836092C>T	ExAC,gnomAD
rs758924814	p.Val918Phe	missense variant	-	NC_000002.12:g.217836092C>A	NCI-TCGA,NCI-TCGA Cosmic
rs115718079	p.Arg919Cys	missense variant	-	NC_000002.12:g.217836089G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777917136	p.Arg919Leu	missense variant	-	NC_000002.12:g.217836088C>A	ExAC,gnomAD
rs777917136	p.Arg919His	missense variant	-	NC_000002.12:g.217836088C>T	ExAC,gnomAD
rs1282537114	p.Ser920Pro	missense variant	-	NC_000002.12:g.217836086A>G	gnomAD
rs1038638493	p.Ser920Cys	missense variant	-	NC_000002.12:g.217836085G>C	TOPMed
COSM3909581	p.Ser920Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217836085G>A	NCI-TCGA Cosmic
rs748014803	p.Pro921Ser	missense variant	-	NC_000002.12:g.217836083G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln923Ter	stop gained	-	NC_000002.12:g.217836077G>A	NCI-TCGA
rs780098748	p.Gln923Leu	missense variant	-	NC_000002.12:g.217836076T>A	ExAC,gnomAD
rs941704932	p.Cys924Tyr	missense variant	-	NC_000002.12:g.217836073C>T	TOPMed,gnomAD
rs374981803	p.Val925Ala	missense variant	-	NC_000002.12:g.217836070A>G	ESP,ExAC,gnomAD
rs781334365	p.Ser926Phe	missense variant	-	NC_000002.12:g.217836067G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser926Ala	missense variant	-	NC_000002.12:g.217836068A>C	NCI-TCGA
rs781334365	p.Ser926Cys	missense variant	-	NC_000002.12:g.217836067G>C	ExAC,TOPMed,gnomAD
rs752044847	p.Pro927Leu	missense variant	-	NC_000002.12:g.217836064G>A	ExAC,TOPMed,gnomAD
rs150803815	p.Pro927Thr	missense variant	-	NC_000002.12:g.217836065G>T	ESP,ExAC,TOPMed,gnomAD
rs150803815	p.Pro927Ala	missense variant	-	NC_000002.12:g.217836065G>C	ESP,ExAC,TOPMed,gnomAD
rs928440670	p.Glu928Lys	missense variant	-	NC_000002.12:g.217836062C>T	TOPMed
rs758726343	p.Ala930Thr	missense variant	-	NC_000002.12:g.217836056C>T	ExAC,gnomAD
rs1433717152	p.Leu931Phe	missense variant	-	NC_000002.12:g.217836053G>A	gnomAD
rs143523583	p.Ala934Thr	missense variant	-	NC_000002.12:g.217836044C>T	NCI-TCGA,NCI-TCGA Cosmic
rs143523583	p.Ala934Ser	missense variant	-	NC_000002.12:g.217836044C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143523583	p.Ala934Thr	missense variant	-	NC_000002.12:g.217836044C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143523583	p.Ala934Pro	missense variant	-	NC_000002.12:g.217836044C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1468369100	p.Ala934Asp	missense variant	-	NC_000002.12:g.217836043G>T	gnomAD
rs1304192132	p.Leu935Val	missense variant	-	NC_000002.12:g.217836041G>C	TOPMed
rs988615245	p.Asn936His	missense variant	-	NC_000002.12:g.217836038T>G	TOPMed,gnomAD
rs956761528	p.Pro937His	missense variant	-	NC_000002.12:g.217836034G>T	TOPMed,gnomAD
rs956761528	p.Pro937Arg	missense variant	-	NC_000002.12:g.217836034G>C	TOPMed,gnomAD
rs776215061	p.Arg940Trp	missense variant	-	NC_000002.12:g.217836026G>A	ExAC,TOPMed,gnomAD
rs1259777988	p.Arg940Gln	missense variant	-	NC_000002.12:g.217836025C>T	TOPMed,gnomAD
rs1259777988	p.Arg940Gln	missense variant	-	NC_000002.12:g.217836025C>T	NCI-TCGA Cosmic
rs760311232	p.Lys942Glu	missense variant	-	NC_000002.12:g.217836020T>C	ExAC,gnomAD
rs753507838	p.Pro944His	missense variant	-	NC_000002.12:g.217835165G>T	ExAC,TOPMed,gnomAD
rs753507838	p.Pro944Arg	missense variant	-	NC_000002.12:g.217835165G>C	ExAC,TOPMed,gnomAD
rs760223263	p.Leu946Phe	missense variant	-	NC_000002.12:g.217835158C>A	ExAC,gnomAD
rs772869891	p.His947Asp	missense variant	-	NC_000002.12:g.217835157G>C	ExAC,TOPMed,gnomAD
rs772869891	p.His947Asn	missense variant	-	NC_000002.12:g.217835157G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser948Thr	missense variant	-	NC_000002.12:g.217835153C>G	NCI-TCGA
rs1337608948	p.Tyr949His	missense variant	-	NC_000002.12:g.217835151A>G	TOPMed,gnomAD
rs199542563	p.Ala952Val	missense variant	-	NC_000002.12:g.217835141G>A	1000Genomes,gnomAD
rs1409611206	p.Ala952Thr	missense variant	-	NC_000002.12:g.217835142C>T	TOPMed
rs761813057	p.Glu954Asp	missense variant	-	NC_000002.12:g.217835134C>G	ExAC,gnomAD
rs1271417746	p.Glu954Lys	missense variant	-	NC_000002.12:g.217835136C>T	NCI-TCGA Cosmic
rs1271417746	p.Glu954Lys	missense variant	-	NC_000002.12:g.217835136C>T	gnomAD
NCI-TCGA novel	p.Met956Leu	missense variant	-	NC_000002.12:g.217835130T>A	NCI-TCGA
rs774220117	p.Met956Arg	missense variant	-	NC_000002.12:g.217835129A>C	ExAC,TOPMed,gnomAD
rs774220117	p.Met956Thr	missense variant	-	NC_000002.12:g.217835129A>G	ExAC,TOPMed,gnomAD
rs1462776294	p.Thr959Ile	missense variant	-	NC_000002.12:g.217835120G>A	gnomAD
rs1392241595	p.Ser960Phe	missense variant	-	NC_000002.12:g.217835117G>A	gnomAD
rs749081810	p.Pro961Leu	missense variant	-	NC_000002.12:g.217835114G>A	ExAC,gnomAD
rs141023083	p.Pro961Ala	missense variant	-	NC_000002.12:g.217835115G>C	ESP,ExAC,TOPMed,gnomAD
rs141023083	p.Pro961Thr	missense variant	-	NC_000002.12:g.217835115G>T	ESP,ExAC,TOPMed,gnomAD
rs771168811	p.Ser963Asn	missense variant	-	NC_000002.12:g.217835108C>T	ExAC,gnomAD
rs201800226	p.Ser963Gly	missense variant	-	NC_000002.12:g.217835109T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs777837868	p.Pro966Ser	missense variant	-	NC_000002.12:g.217835100G>A	ExAC,gnomAD
rs777837868	p.Pro966Ala	missense variant	-	NC_000002.12:g.217835100G>C	ExAC,gnomAD
rs777837868	p.Pro966Thr	missense variant	-	NC_000002.12:g.217835100G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser967Cys	missense variant	-	NC_000002.12:g.217835097T>A	NCI-TCGA
rs145825540	p.Ser967Asn	missense variant	-	NC_000002.12:g.217835096C>T	ESP,ExAC,TOPMed,gnomAD
rs1271631222	p.Gly968Arg	missense variant	-	NC_000002.12:g.217835094C>T	gnomAD
rs779338381	p.Gly968Glu	missense variant	-	NC_000002.12:g.217835093C>T	ExAC,TOPMed,gnomAD
rs1308595202	p.Val969Met	missense variant	-	NC_000002.12:g.217835091C>T	gnomAD
rs542492773	p.Arg970Trp	missense variant	-	NC_000002.12:g.217831545G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs373055196	p.Arg970Gln	missense variant	-	NC_000002.12:g.217831544C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs542492773	p.Arg970Trp	missense variant	-	NC_000002.12:g.217831545G>A	NCI-TCGA,NCI-TCGA Cosmic
rs750084484	p.Ser971Phe	missense variant	-	NC_000002.12:g.217831541G>A	NCI-TCGA
rs750084484	p.Ser971Tyr	missense variant	-	NC_000002.12:g.217831541G>T	ExAC,TOPMed,gnomAD
rs750084484	p.Ser971Cys	missense variant	-	NC_000002.12:g.217831541G>C	ExAC,TOPMed,gnomAD
rs750084484	p.Ser971Phe	missense variant	-	NC_000002.12:g.217831541G>A	ExAC,TOPMed,gnomAD
rs780753977	p.Pro972Ser	missense variant	-	NC_000002.12:g.217831539G>A	ExAC,gnomAD
rs756756642	p.Pro973Leu	missense variant	-	NC_000002.12:g.217831535G>A	ExAC,TOPMed,gnomAD
COSM1405404	p.Pro973ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.217831535G>-	NCI-TCGA Cosmic
rs751059536	p.Gly974Ser	missense variant	-	NC_000002.12:g.217831533C>T	ExAC,gnomAD
rs751059536	p.Gly974Cys	missense variant	-	NC_000002.12:g.217831533C>A	ExAC,gnomAD
rs1483009731	p.Leu975Val	missense variant	-	NC_000002.12:g.217831530G>C	gnomAD
rs780920211	p.Leu975SerPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.217831534_217831535insG	NCI-TCGA,NCI-TCGA Cosmic
rs779522316	p.Ala976Val	missense variant	-	NC_000002.12:g.217831526G>A	ExAC,TOPMed,gnomAD
rs1251803674	p.Lys977Gln	missense variant	-	NC_000002.12:g.217831524T>G	gnomAD
NCI-TCGA novel	p.Lys977Asn	missense variant	-	NC_000002.12:g.217831522C>A	NCI-TCGA
COSM3372639	p.Thr978Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217831520G>C	NCI-TCGA Cosmic
rs752700908	p.Pro979Ser	missense variant	-	NC_000002.12:g.217831518G>A	ExAC,gnomAD
rs752700908	p.Pro979Thr	missense variant	-	NC_000002.12:g.217831518G>T	ExAC,gnomAD
rs752700908	p.Pro979Ala	missense variant	-	NC_000002.12:g.217831518G>C	ExAC,gnomAD
rs564618564	p.Gly984Val	missense variant	-	NC_000002.12:g.217831502C>A	1000Genomes,ExAC,gnomAD
COSM4091358	p.Gly984Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217831502C>T	NCI-TCGA Cosmic
rs1355933390	p.Leu985Val	missense variant	-	NC_000002.12:g.217831500G>C	gnomAD
rs1016644786	p.Lys986Asn	missense variant	-	NC_000002.12:g.217831495T>A	TOPMed,gnomAD
rs772216011	p.Pro987Leu	missense variant	-	NC_000002.12:g.217831493G>A	ExAC,TOPMed,gnomAD
rs769139168	p.Pro990Ala	missense variant	-	NC_000002.12:g.217831485G>C	ExAC,gnomAD
rs769139168	p.Pro990Ser	missense variant	-	NC_000002.12:g.217831485G>A	ExAC,gnomAD
rs139665137	p.Ala991Val	missense variant	-	NC_000002.12:g.217831481G>A	NCI-TCGA
rs139665137	p.Ala991Val	missense variant	-	NC_000002.12:g.217831481G>A	ESP,ExAC,TOPMed,gnomAD
rs1419142046	p.Asp992His	missense variant	-	NC_000002.12:g.217831479C>G	gnomAD
rs1254838225	p.Leu995Ser	missense variant	-	NC_000002.12:g.217831469A>G	TOPMed,gnomAD
rs1205411606	p.Pro997Ser	missense variant	-	NC_000002.12:g.217831464G>A	TOPMed,gnomAD
rs1205411606	p.Pro997Thr	missense variant	-	NC_000002.12:g.217831464G>T	TOPMed,gnomAD
rs1486638838	p.Pro997Leu	missense variant	-	NC_000002.12:g.217831463G>A	gnomAD
rs780854400	p.Thr998Ile	missense variant	-	NC_000002.12:g.217831460G>A	ExAC,TOPMed,gnomAD
rs1274927291	p.Val1000Ile	missense variant	-	NC_000002.12:g.217831455C>T	gnomAD
rs1473252532	p.Thr1001Ser	missense variant	-	NC_000002.12:g.217830388T>A	TOPMed
rs3796028	p.Arg1004Trp	missense variant	-	NC_000002.12:g.217830379G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375058582	p.Arg1004Gln	missense variant	-	NC_000002.12:g.217830378C>T	ESP,ExAC,TOPMed,gnomAD
rs1473590300	p.Ile1005Met	missense variant	-	NC_000002.12:g.217830374G>C	TOPMed
rs1254733898	p.Gln1006Ter	stop gained	-	NC_000002.12:g.217830373G>A	gnomAD
COSM6090121	p.Glu1008Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217830367C>T	NCI-TCGA Cosmic
rs201342737	p.Gly1012Ala	missense variant	-	NC_000002.12:g.217829870C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs755831374	p.Lys1013Gln	missense variant	-	NC_000002.12:g.217829868T>G	ExAC,gnomAD
rs750261040	p.Val1014Met	missense variant	-	NC_000002.12:g.217829865C>T	ExAC,gnomAD
rs1331841929	p.Val1016Phe	missense variant	-	NC_000002.12:g.217829859C>A	gnomAD
rs374469332	p.Val1016Ala	missense variant	-	NC_000002.12:g.217829858A>G	ESP
rs1385482269	p.Leu1018Val	missense variant	-	NC_000002.12:g.217829853G>C	TOPMed,gnomAD
rs753038633	p.Leu1018Pro	missense variant	-	NC_000002.12:g.217829852A>G	ExAC,TOPMed,gnomAD
rs753038633	p.Leu1018Arg	missense variant	-	NC_000002.12:g.217829852A>C	ExAC,TOPMed,gnomAD
rs1190947465	p.Pro1022Thr	missense variant	-	NC_000002.12:g.217821936G>T	TOPMed,gnomAD
rs1190947465	p.Pro1022Ser	missense variant	-	NC_000002.12:g.217821936G>A	TOPMed,gnomAD
rs142672992	p.Arg1023Gln	missense variant	-	NC_000002.12:g.217821932C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779322372	p.Arg1023Trp	missense variant	-	NC_000002.12:g.217821933G>A	ExAC,gnomAD
rs1033797817	p.Tyr1025Asp	missense variant	-	NC_000002.12:g.217821927A>C	TOPMed
rs766740679	p.Val1026Met	missense variant	-	NC_000002.12:g.217821924C>T	ExAC,gnomAD
rs112371945	p.Glu1027Val	missense variant	-	NC_000002.12:g.217821920T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750994181	p.Ala1030Ser	missense variant	-	NC_000002.12:g.217821912C>A	ExAC,gnomAD
rs762213864	p.Arg1031Gln	missense variant	-	NC_000002.12:g.217821908C>T	ExAC,TOPMed,gnomAD
rs762213864	p.Arg1031Gln	missense variant	-	NC_000002.12:g.217821908C>T	NCI-TCGA
rs370481778	p.Arg1031Trp	missense variant	-	NC_000002.12:g.217821909G>A	ESP,ExAC,TOPMed,gnomAD
rs762213864	p.Arg1031Pro	missense variant	-	NC_000002.12:g.217821908C>G	ExAC,TOPMed,gnomAD
rs773961481	p.Thr1032Ala	missense variant	-	NC_000002.12:g.217821906T>C	ExAC,TOPMed,gnomAD
rs980170611	p.Thr1032Ile	missense variant	-	NC_000002.12:g.217821905G>A	TOPMed
rs773961481	p.Thr1032Pro	missense variant	-	NC_000002.12:g.217821906T>G	ExAC,TOPMed,gnomAD
rs1421698835	p.Ala1033Thr	missense variant	-	NC_000002.12:g.217821903C>T	gnomAD
rs768382919	p.Ala1033Val	missense variant	-	NC_000002.12:g.217821902G>A	ExAC,TOPMed,gnomAD
rs1464572260	p.Gly1036Glu	missense variant	-	NC_000002.12:g.217821893C>T	gnomAD
NCI-TCGA novel	p.Pro1037Ala	missense variant	-	NC_000002.12:g.217821891G>C	NCI-TCGA
rs1347992348	p.Arg1038Ter	stop gained	-	NC_000002.12:g.217821888G>A	gnomAD
rs1021945998	p.Arg1038Gln	missense variant	-	NC_000002.12:g.217821887C>T	TOPMed,gnomAD
rs775077021	p.Gln1040Arg	missense variant	-	NC_000002.12:g.217821881T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser1042Cys	missense variant	-	NC_000002.12:g.217821875G>C	NCI-TCGA
rs956029633	p.Ser1042Pro	missense variant	-	NC_000002.12:g.217821876A>G	TOPMed
rs769548964	p.Glu1043Asp	missense variant	-	NC_000002.12:g.217821871C>G	ExAC,gnomAD
rs745791045	p.Pro1044Ser	missense variant	-	NC_000002.12:g.217821870G>A	ExAC,TOPMed,gnomAD
rs745791045	p.Pro1044Thr	missense variant	-	NC_000002.12:g.217821870G>T	ExAC,TOPMed,gnomAD
rs1215275775	p.Lys1045Arg	missense variant	-	NC_000002.12:g.217821866T>C	TOPMed
rs1266335280	p.Lys1045Asn	missense variant	-	NC_000002.12:g.217821865C>G	TOPMed
rs1389947940	p.Ser1046Asn	missense variant	-	NC_000002.12:g.217821863C>T	gnomAD
rs776760155	p.Ser1048Gly	missense variant	-	NC_000002.12:g.217821858T>C	ExAC,TOPMed,gnomAD
rs776760155	p.Ser1048Arg	missense variant	-	NC_000002.12:g.217821858T>G	ExAC,TOPMed,gnomAD
rs1489765457	p.Ala1049Thr	missense variant	-	NC_000002.12:g.217821855C>T	TOPMed,gnomAD
rs377220929	p.Pro1050Ser	missense variant	-	NC_000002.12:g.217821852G>A	ESP,ExAC,TOPMed,gnomAD
rs575250579	p.Ala1051Pro	missense variant	-	NC_000002.12:g.217821849C>G	1000Genomes
COSM1016263	p.Thr1052Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217821845G>T	NCI-TCGA Cosmic
rs1469642761	p.Ala1054Gly	missense variant	-	NC_000002.12:g.217821839G>C	gnomAD
rs746834871	p.Glu1058Asp	missense variant	-	NC_000002.12:g.217821826C>A	ExAC,gnomAD
rs778953855	p.Pro1060Ser	missense variant	-	NC_000002.12:g.217821822G>A	ExAC,TOPMed,gnomAD
rs778953855	p.Pro1060Thr	missense variant	-	NC_000002.12:g.217821822G>T	ExAC,TOPMed,gnomAD
rs1225807730	p.Pro1060Leu	missense variant	-	NC_000002.12:g.217821821G>A	gnomAD
rs1183345866	p.Arg1062Ser	missense variant	-	NC_000002.12:g.217821814C>G	TOPMed
rs1220693327	p.Gly1064Arg	missense variant	-	NC_000002.12:g.217821810C>G	TOPMed,gnomAD
rs1220693327	p.Gly1064Arg	missense variant	-	NC_000002.12:g.217821810C>T	TOPMed,gnomAD
rs77931866	p.Thr1065Asn	missense variant	-	NC_000002.12:g.217821806G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1371312122	p.Leu1066Gln	missense variant	-	NC_000002.12:g.217821803A>T	gnomAD
rs750907005	p.Gly1067Asp	missense variant	-	NC_000002.12:g.217821800C>T	ExAC,gnomAD
rs1435318286	p.Pro1073Ser	missense variant	-	NC_000002.12:g.217821783G>A	gnomAD
rs922318017	p.Ser1074Arg	missense variant	-	NC_000002.12:g.217821778G>C	TOPMed
rs922318017	p.Ser1074Arg	missense variant	-	NC_000002.12:g.217821778G>T	TOPMed
rs922318017	p.Ser1074Arg	missense variant	-	NC_000002.12:g.217821778G>C	NCI-TCGA
COSM442300	p.Ser1074Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217821779C>T	NCI-TCGA Cosmic
rs763593785	p.Ser1077Cys	missense variant	-	NC_000002.12:g.217821770G>C	ExAC,TOPMed,gnomAD
COSM1405403	p.Ser1077Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217821770G>T	NCI-TCGA Cosmic
rs1380279277	p.Thr1078Ala	missense variant	-	NC_000002.12:g.217821768T>C	TOPMed
rs764784964	p.Ser1080Arg	missense variant	-	NC_000002.12:g.217821760G>T	ExAC,gnomAD
rs759161200	p.Pro1081Ser	missense variant	-	NC_000002.12:g.217821759G>A	ExAC,gnomAD
rs1310273628	p.Ala1085Pro	missense variant	-	NC_000002.12:g.217821747C>G	gnomAD
NCI-TCGA novel	p.Gly1091Val	missense variant	-	NC_000002.12:g.217818748C>A	NCI-TCGA
rs943078552	p.Ser1092Asn	missense variant	-	NC_000002.12:g.217818745C>T	gnomAD
VAR_048004	p.Phe1093Leu	Missense	-	-	UniProt
rs149785174	p.Pro1094Leu	missense variant	-	NC_000002.12:g.217818739G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201342133	p.Ser1095Leu	missense variant	-	NC_000002.12:g.217818736G>A	ExAC,TOPMed,gnomAD
rs1247020581	p.Glu1097Gln	missense variant	-	NC_000002.12:g.217818731C>G	gnomAD
rs981838738	p.Glu1097Asp	missense variant	-	NC_000002.12:g.217818729C>G	TOPMed,gnomAD
rs1185623310	p.Ser1098Ile	missense variant	-	NC_000002.12:g.217818727C>A	TOPMed
rs139688576	p.Ser1098Arg	missense variant	-	NC_000002.12:g.217818726G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs761552215	p.Ser1098Gly	missense variant	-	NC_000002.12:g.217818728T>C	ExAC,gnomAD
rs1367870989	p.Asp1100Glu	missense variant	-	NC_000002.12:g.217818720G>C	gnomAD
rs770021903	p.Gly1102Cys	missense variant	-	NC_000002.12:g.217818716C>A	ExAC,TOPMed,gnomAD
rs770021903	p.Gly1102Ser	missense variant	-	NC_000002.12:g.217818716C>T	ExAC,TOPMed,gnomAD
rs770021903	p.Gly1102Arg	missense variant	-	NC_000002.12:g.217818716C>G	ExAC,TOPMed,gnomAD
COSM4392890	p.Pro1103Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217818713G>T	NCI-TCGA Cosmic
rs373946458	p.Arg1104Trp	missense variant	-	NC_000002.12:g.217818710G>A	ExAC,TOPMed,gnomAD
rs781250276	p.Arg1104Gln	missense variant	-	NC_000002.12:g.217818709C>T	ExAC,gnomAD
rs150702291	p.Thr1105Met	missense variant	-	NC_000002.12:g.217818706G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778651964	p.Thr1107Ile	missense variant	-	NC_000002.12:g.217818700G>A	ExAC,gnomAD
rs200296660	p.Thr1107Pro	missense variant	-	NC_000002.12:g.217818701T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200296660	p.Thr1107Ala	missense variant	-	NC_000002.12:g.217818701T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs778651964	p.Thr1107Ser	missense variant	-	NC_000002.12:g.217818700G>C	ExAC,gnomAD
rs1388094835	p.Pro1109Leu	missense variant	-	NC_000002.12:g.217818694G>A	gnomAD
rs753614446	p.Leu1110Gln	missense variant	-	NC_000002.12:g.217818691A>T	ExAC,gnomAD
COSM4393932	p.Glu1112Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217818686C>T	NCI-TCGA Cosmic
rs1269328427	p.Ser1113Phe	missense variant	-	NC_000002.12:g.217818682G>A	gnomAD
rs201310757	p.Gly1114Ala	missense variant	-	NC_000002.12:g.217818679C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201310757	p.Gly1114Val	missense variant	-	NC_000002.12:g.217818679C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767385772	p.Phe1115Tyr	missense variant	-	NC_000002.12:g.217818676A>T	ExAC,gnomAD
rs61745431	p.Arg1116His	missense variant	-	NC_000002.12:g.217818673C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151035362	p.Arg1116Cys	missense variant	-	NC_000002.12:g.217818674G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1295883986	p.Gly1118Ser	missense variant	-	NC_000002.12:g.217818668C>T	gnomAD
NCI-TCGA novel	p.Ser1119Asn	missense variant	-	NC_000002.12:g.217818664C>T	NCI-TCGA
rs200802885	p.Pro1123Leu	missense variant	-	NC_000002.12:g.217818652G>A	ESP,ExAC,TOPMed,gnomAD
rs776894221	p.Pro1123Ser	missense variant	-	NC_000002.12:g.217818653G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser1124Asn	missense variant	-	NC_000002.12:g.217818649C>T	NCI-TCGA
rs370635239	p.Pro1125Leu	missense variant	-	NC_000002.12:g.217818646G>A	ESP,ExAC,TOPMed,gnomAD
COSM4091354	p.Ala1127Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217818640G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg1129Ile	missense variant	-	NC_000002.12:g.217818634C>A	NCI-TCGA
rs1368294391	p.Asn1130Lys	missense variant	-	NC_000002.12:g.217818630G>C	gnomAD
rs1214846935	p.Tyr1131Asn	missense variant	-	NC_000002.12:g.217818629A>T	TOPMed
rs779415669	p.Pro1136Leu	missense variant	-	NC_000002.12:g.217818613G>A	ExAC,gnomAD
rs139542436	p.Pro1138Leu	missense variant	-	NC_000002.12:g.217818607G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1272797333	p.Ser1143Thr	missense variant	-	NC_000002.12:g.217818592C>G	gnomAD
rs1195398322	p.Ser1143Arg	missense variant	-	NC_000002.12:g.217818591G>C	gnomAD
rs779890409	p.Tyr1144Cys	missense variant	-	NC_000002.12:g.217818589T>C	ExAC,gnomAD
rs1429249801	p.Ser1146Arg	missense variant	-	NC_000002.12:g.217818582G>T	gnomAD
rs184451758	p.Asp1148Asn	missense variant	-	NC_000002.12:g.217818578C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767427826	p.Tyr1149Cys	missense variant	-	NC_000002.12:g.217818574T>C	ExAC,gnomAD
rs757142321	p.Gln1152Ter	stop gained	-	NC_000002.12:g.217818566G>A	ExAC,gnomAD
rs763860864	p.Ser1156Phe	missense variant	-	NC_000002.12:g.217818553G>A	ExAC,gnomAD
rs776797654	p.Ser1157Phe	missense variant	-	NC_000002.12:g.217818550G>A	ExAC,gnomAD
rs375633988	p.Pro1158Leu	missense variant	-	NC_000002.12:g.217818547G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1170588432	p.Pro1158Thr	missense variant	-	NC_000002.12:g.217818548G>T	TOPMed,gnomAD
rs1343736249	p.Ala1162Asp	missense variant	-	NC_000002.12:g.217818535G>T	TOPMed
rs1473628701	p.Arg1163Gln	missense variant	-	NC_000002.12:g.217818532C>T	TOPMed,gnomAD
rs1181370087	p.Ala1164Thr	missense variant	-	NC_000002.12:g.217818530C>T	gnomAD
rs748591890	p.Gln1165Pro	missense variant	-	NC_000002.12:g.217818526T>G	ExAC,gnomAD
rs1374979915	p.Phe1166Leu	missense variant	-	NC_000002.12:g.217818522G>C	TOPMed
rs775049558	p.Ser1167Thr	missense variant	-	NC_000002.12:g.217818520C>G	ExAC,gnomAD
rs775049558	p.Ser1167Asn	missense variant	-	NC_000002.12:g.217818520C>T	ExAC,gnomAD
rs1199072597	p.Ala1169Asp	missense variant	-	NC_000002.12:g.217818514G>T	gnomAD
rs769109703	p.Gly1170Ser	missense variant	-	NC_000002.12:g.217818512C>T	ExAC,TOPMed,gnomAD
rs745306101	p.Val1171Ile	missense variant	-	NC_000002.12:g.217818509C>T	ExAC,TOPMed,gnomAD
rs780559604	p.Val1171Gly	missense variant	-	NC_000002.12:g.217818508A>C	ExAC
rs138956630	p.Thr1173Met	missense variant	-	NC_000002.12:g.217818502G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149583172	p.Pro1175Leu	missense variant	-	NC_000002.12:g.217818496G>A	ESP,ExAC,TOPMed,gnomAD
rs752506605	p.Gly1176Arg	missense variant	-	NC_000002.12:g.217818494C>T	ExAC,gnomAD
rs978022183	p.Ser1177Asn	missense variant	-	NC_000002.12:g.217818490C>T	TOPMed,gnomAD
COSM3909580	p.Pro1178Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217818487G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln1179Ter	stop gained	-	NC_000002.12:g.217818485G>A	NCI-TCGA
COSM1306417	p.Gln1179Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217818485G>C	NCI-TCGA Cosmic
rs549005226	p.Ala1180Val	missense variant	-	NC_000002.12:g.217818481G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767473683	p.Arg1181His	missense variant	-	NC_000002.12:g.217818478C>T	ExAC,TOPMed,gnomAD
rs773542085	p.Arg1181Cys	missense variant	-	NC_000002.12:g.217818479G>A	ExAC,TOPMed,gnomAD
rs761995104	p.Arg1183Ile	missense variant	-	NC_000002.12:g.217818472C>A	ExAC,gnomAD
rs761995104	p.Arg1183Lys	missense variant	-	NC_000002.12:g.217818472C>T	ExAC,gnomAD
rs964824123	p.Val1185Leu	missense variant	-	NC_000002.12:g.217818467C>G	TOPMed,gnomAD
rs774957474	p.Gly1186Val	missense variant	-	NC_000002.12:g.217818463C>A	ExAC,gnomAD
rs769307871	p.Asn1188Tyr	missense variant	-	NC_000002.12:g.217818458T>A	ExAC,gnomAD
rs749605553	p.Thr1189Ile	missense variant	-	NC_000002.12:g.217818454G>A	ExAC,gnomAD
rs147629696	p.Pro1190Ser	missense variant	-	NC_000002.12:g.217818452G>A	ESP,ExAC,TOPMed,gnomAD
rs147629696	p.Pro1190Ala	missense variant	-	NC_000002.12:g.217818452G>C	ESP,ExAC,TOPMed,gnomAD
rs267599205	p.Pro1191Ser	missense variant	-	NC_000002.12:g.217818449G>A	ExAC,TOPMed,gnomAD
rs376324480	p.Pro1191Leu	missense variant	-	NC_000002.12:g.217818448G>A	ESP,TOPMed,gnomAD
rs267599205	p.Pro1191Ala	missense variant	-	NC_000002.12:g.217818449G>C	ExAC,TOPMed,gnomAD
rs746547539	p.Phe1195Leu	missense variant	-	NC_000002.12:g.217818437A>G	ExAC,gnomAD
rs560632147	p.Gly1196Ser	missense variant	-	NC_000002.12:g.217818434C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1196Cys	missense variant	-	NC_000002.12:g.217818434C>A	NCI-TCGA
rs202172136	p.Trp1197Ter	stop gained	-	NC_000002.12:g.217818430C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs2571445	p.Trp1197Arg	missense variant	-	NC_000002.12:g.217818431A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2571445	p.Trp1197Arg	missense variant	-	NC_000002.12:g.217818431A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754852414	p.Arg1198Trp	missense variant	-	NC_000002.12:g.217818428G>A	ExAC,TOPMed,gnomAD
rs369393471	p.Arg1198Gln	missense variant	-	NC_000002.12:g.217818427C>T	ESP,ExAC,TOPMed,gnomAD
rs767810144	p.Ile1200Phe	missense variant	-	NC_000002.12:g.217818422T>A	ExAC,gnomAD
rs1240635984	p.Ile1200Met	missense variant	-	NC_000002.12:g.217818420G>C	TOPMed
rs934348126	p.Asn1201Ser	missense variant	-	NC_000002.12:g.217818418T>C	TOPMed,gnomAD
rs34291329	p.Pro1202Ser	missense variant	-	NC_000002.12:g.217818416G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1444164990	p.Ala1206Val	missense variant	-	NC_000002.12:g.217818403G>A	gnomAD
rs544348080	p.Pro1207Leu	missense variant	-	NC_000002.12:g.217818400G>A	1000Genomes,ExAC,gnomAD
rs1190890551	p.Pro1207Ser	missense variant	-	NC_000002.12:g.217818401G>A	TOPMed,gnomAD
rs764628379	p.Ser1208Gly	missense variant	-	NC_000002.12:g.217818398T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser1209Asn	missense variant	-	NC_000002.12:g.217818394C>T	NCI-TCGA
rs1436713743	p.Ser1211Cys	missense variant	-	NC_000002.12:g.217818389T>A	TOPMed
rs1222896253	p.Ser1211Ile	missense variant	-	NC_000002.12:g.217818388C>A	gnomAD
NCI-TCGA novel	p.Ser1213Cys	missense variant	-	NC_000002.12:g.217818383T>A	NCI-TCGA
NCI-TCGA novel	p.His1214Arg	missense variant	-	NC_000002.12:g.217818379T>C	NCI-TCGA
rs992073780	p.Met1217Thr	missense variant	-	NC_000002.12:g.217818370A>G	TOPMed
rs763545171	p.Met1218Ile	missense variant	-	NC_000002.12:g.217818366C>G	ExAC,gnomAD
rs776119921	p.Gly1219Ala	missense variant	-	NC_000002.12:g.217818364C>G	ExAC,TOPMed,gnomAD
rs770030341	p.Pro1221Thr	missense variant	-	NC_000002.12:g.217818359G>T	ExAC,TOPMed,gnomAD
rs1299613903	p.Pro1221Leu	missense variant	-	NC_000002.12:g.217818358G>A	gnomAD
rs770030341	p.Pro1221Ser	missense variant	-	NC_000002.12:g.217818359G>A	ExAC,TOPMed,gnomAD
rs759983608	p.Gly1222Arg	missense variant	-	NC_000002.12:g.217818356C>G	ExAC,gnomAD
rs376418427	p.Thr1223Ser	missense variant	-	NC_000002.12:g.217818352G>C	ESP,ExAC,TOPMed,gnomAD
rs1179684541	p.Thr1223Pro	missense variant	-	NC_000002.12:g.217818353T>G	TOPMed
rs376418427	p.Thr1223Ile	missense variant	-	NC_000002.12:g.217818352G>A	ESP,ExAC,TOPMed,gnomAD
rs746453498	p.Gly1224Ser	missense variant	-	NC_000002.12:g.217818350C>T	ExAC,gnomAD
rs1351690025	p.Phe1225Leu	missense variant	-	NC_000002.12:g.217818347A>G	gnomAD
rs777264422	p.Phe1225Cys	missense variant	-	NC_000002.12:g.217818346A>C	ExAC,gnomAD
rs1371371888	p.Gly1227Asp	missense variant	-	NC_000002.12:g.217818340C>T	TOPMed,gnomAD
rs951408351	p.Ser1228Gly	missense variant	-	NC_000002.12:g.217818338T>C	TOPMed
rs951408351	p.Ser1228Cys	missense variant	-	NC_000002.12:g.217818338T>A	TOPMed
rs1409416413	p.Ser1228Ile	missense variant	-	NC_000002.12:g.217818337C>A	TOPMed
rs771628959	p.Thr1229Ala	missense variant	-	NC_000002.12:g.217818335T>C	ExAC,gnomAD
rs754691748	p.Val1230Ala	missense variant	-	NC_000002.12:g.217818331A>G	ExAC,gnomAD
rs149865301	p.Val1230Leu	missense variant	-	NC_000002.12:g.217818332C>G	ESP,ExAC,TOPMed,gnomAD
rs149865301	p.Val1230Ile	missense variant	-	NC_000002.12:g.217818332C>T	ESP,ExAC,TOPMed,gnomAD
rs1192292704	p.Ser1231Phe	missense variant	-	NC_000002.12:g.217818328G>A	gnomAD
NCI-TCGA novel	p.Gln1234ProPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.217818319_217818320insG	NCI-TCGA
rs1479288668	p.Gln1234Ter	stop gained	-	NC_000002.12:g.217818320G>A	gnomAD
rs1198042000	p.Ser1236Arg	missense variant	-	NC_000002.12:g.217818312A>C	gnomAD
rs753687770	p.Ser1236Asn	missense variant	-	NC_000002.12:g.217818313C>T	ExAC,TOPMed,gnomAD
rs1483202810	p.Ala1237Ser	missense variant	-	NC_000002.12:g.217818311C>A	gnomAD
rs781212293	p.Ala1238Thr	missense variant	-	NC_000002.12:g.217818308C>T	ExAC,TOPMed,gnomAD
rs757557810	p.Ala1238Val	missense variant	-	NC_000002.12:g.217818307G>A	ExAC,gnomAD
rs751896413	p.Thr1239Ser	missense variant	-	NC_000002.12:g.217818305T>A	ExAC,TOPMed,gnomAD
rs753110853	p.Thr1240Ala	missense variant	-	NC_000002.12:g.217818302T>C	ExAC,gnomAD
rs753110853	p.Thr1240Pro	missense variant	-	NC_000002.12:g.217818302T>G	ExAC,gnomAD
rs1281506886	p.Pro1241Ser	missense variant	-	NC_000002.12:g.217818299G>A	gnomAD
rs759765327	p.Pro1241Gln	missense variant	-	NC_000002.12:g.217818298G>T	ExAC,TOPMed,gnomAD
rs759765327	p.Pro1241Leu	missense variant	-	NC_000002.12:g.217818298G>A	ExAC,TOPMed,gnomAD
rs1310107860	p.Gly1242Glu	missense variant	-	NC_000002.12:g.217818295C>T	TOPMed,gnomAD
rs771356903	p.Ser1243Thr	missense variant	-	NC_000002.12:g.217818292C>G	ExAC,gnomAD
rs760308082	p.Ser1245Arg	missense variant	-	NC_000002.12:g.217818285G>T	ExAC,gnomAD
rs374664735	p.Arg1248Trp	missense variant	-	NC_000002.12:g.217818278G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1440186075	p.Arg1248Gln	missense variant	-	NC_000002.12:g.217818277C>T	TOPMed,gnomAD
rs1247539853	p.His1249Leu	missense variant	-	NC_000002.12:g.217818274T>A	TOPMed
rs768650809	p.His1249Asn	missense variant	-	NC_000002.12:g.217818275G>T	ExAC,TOPMed,gnomAD
rs748968221	p.His1249Gln	missense variant	-	NC_000002.12:g.217818273G>C	ExAC,gnomAD
rs768650809	p.His1249Tyr	missense variant	-	NC_000002.12:g.217818275G>A	ExAC,TOPMed,gnomAD
rs779890703	p.Pro1250Leu	missense variant	-	NC_000002.12:g.217818271G>A	ExAC,gnomAD
rs1184867216	p.Ala1251Glu	missense variant	-	NC_000002.12:g.217818268G>T	TOPMed
rs756030763	p.Ala1251Thr	missense variant	-	NC_000002.12:g.217818269C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1252Arg	missense variant	-	NC_000002.12:g.217818266C>T	NCI-TCGA
rs573432829	p.Val1253Ile	missense variant	-	NC_000002.12:g.217818263C>T	1000Genomes,ExAC,gnomAD
rs146194928	p.Tyr1254Cys	missense variant	-	NC_000002.12:g.217818259T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1255Lys	missense variant	-	NC_000002.12:g.217818257G>T	NCI-TCGA
rs558458788	p.Gln1255Leu	missense variant	-	NC_000002.12:g.217818256T>A	1000Genomes,ExAC,gnomAD
rs765597278	p.Gly1258Asp	missense variant	-	NC_000002.12:g.217818247C>T	ExAC,gnomAD
rs755506192	p.Leu1259Phe	missense variant	-	NC_000002.12:g.217818245G>A	ExAC,gnomAD
rs199947491	p.Thr1265Ile	missense variant	-	NC_000002.12:g.217818226G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs766711676	p.Thr1266Asn	missense variant	-	NC_000002.12:g.217818223G>T	ExAC,TOPMed,gnomAD
rs766711676	p.Thr1266Ile	missense variant	-	NC_000002.12:g.217818223G>A	ExAC,TOPMed,gnomAD
rs557589384	p.Pro1267Leu	missense variant	-	NC_000002.12:g.217818220G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs772815271	p.Pro1267Ser	missense variant	-	NC_000002.12:g.217818221G>A	ExAC,gnomAD
rs557589384	p.Pro1267Arg	missense variant	-	NC_000002.12:g.217818220G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs772815271	p.Pro1267Thr	missense variant	-	NC_000002.12:g.217818221G>T	ExAC,gnomAD
rs1404304100	p.Ser1269Cys	missense variant	-	NC_000002.12:g.217818215T>A	gnomAD
rs985297701	p.Pro1270Leu	missense variant	-	NC_000002.12:g.217818211G>A	TOPMed
rs1176354846	p.Ser1271Ile	missense variant	-	NC_000002.12:g.217818208C>A	gnomAD
rs1176354846	p.Ser1271Asn	missense variant	-	NC_000002.12:g.217818208C>T	gnomAD
rs555430131	p.Leu1272Pro	missense variant	-	NC_000002.12:g.217818205A>G	gnomAD
rs1413618010	p.Gly1273Ser	missense variant	-	NC_000002.12:g.217818203C>T	gnomAD
rs1156295196	p.Gly1273Asp	missense variant	-	NC_000002.12:g.217818202C>T	gnomAD
rs749231305	p.Arg1274Gln	missense variant	-	NC_000002.12:g.217818199C>T	ExAC,TOPMed,gnomAD
rs140195511	p.Arg1274Trp	missense variant	-	NC_000002.12:g.217818200G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His1275Gln	missense variant	-	NC_000002.12:g.217818195G>T	NCI-TCGA
rs775616526	p.His1275Leu	missense variant	-	NC_000002.12:g.217818196T>A	ExAC,gnomAD
rs1242238984	p.Pro1276Ala	missense variant	-	NC_000002.12:g.217818194G>C	gnomAD
rs745687104	p.Gly1277Ala	missense variant	-	NC_000002.12:g.217818190C>G	ExAC,TOPMed,gnomAD
rs371485196	p.Ala1278Thr	missense variant	-	NC_000002.12:g.217818188C>T	ESP,ExAC,TOPMed,gnomAD
rs1212024995	p.His1279Gln	missense variant	-	NC_000002.12:g.217818183G>C	TOPMed
rs758700137	p.His1279Tyr	missense variant	-	NC_000002.12:g.217818185G>A	ExAC,gnomAD
rs369260171	p.Gln1280Glu	missense variant	-	NC_000002.12:g.217818182G>C	ESP,ExAC,TOPMed,gnomAD
rs1230183452	p.Gly1286Asp	missense variant	-	NC_000002.12:g.217818163C>T	gnomAD
rs148106119	p.Gly1286Ser	missense variant	-	NC_000002.12:g.217818164C>T	ESP,ExAC,TOPMed,gnomAD
rs993491639	p.Leu1287Phe	missense variant	-	NC_000002.12:g.217818161G>A	TOPMed
rs1381044028	p.Asn1290Asp	missense variant	-	NC_000002.12:g.217818152T>C	gnomAD
rs974485724	p.Asn1290Lys	missense variant	-	NC_000002.12:g.217818150A>T	TOPMed
NCI-TCGA novel	p.Ile1292Lys	missense variant	-	NC_000002.12:g.217818145A>T	NCI-TCGA
rs766905890	p.Ile1292Thr	missense variant	-	NC_000002.12:g.217818145A>G	ExAC,TOPMed,gnomAD
rs567383518	p.Ile1292Val	missense variant	-	NC_000002.12:g.217818146T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala1293Val	missense variant	-	NC_000002.12:g.217818142G>A	NCI-TCGA
rs750798352	p.Ser1294Arg	missense variant	-	NC_000002.12:g.217818138G>C	ExAC,gnomAD
rs1415623747	p.Pro1295Ser	missense variant	-	NC_000002.12:g.217818137G>A	TOPMed
rs1452465027	p.Pro1295His	missense variant	-	NC_000002.12:g.217818136G>T	gnomAD
rs767087568	p.Gly1296Glu	missense variant	-	NC_000002.12:g.217818133C>T	ExAC,gnomAD
rs1473709265	p.Ser1297Arg	missense variant	-	NC_000002.12:g.217818129G>T	TOPMed
rs761518907	p.Ser1299Thr	missense variant	-	NC_000002.12:g.217818124C>G	ExAC,gnomAD
COSM4091353	p.Ser1299Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217818124C>T	NCI-TCGA Cosmic
rs533811485	p.Arg1302His	missense variant	-	NC_000002.12:g.217818115C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs555032914	p.Arg1302Cys	missense variant	-	NC_000002.12:g.217818116G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1304Ile	missense variant	-	NC_000002.12:g.217818110G>T	NCI-TCGA
rs202059695	p.Gly1305Arg	missense variant	-	NC_000002.12:g.217818107C>G	ExAC,TOPMed,gnomAD
rs141992593	p.Gly1305Glu	missense variant	-	NC_000002.12:g.217818106C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs202059695	p.Gly1305Arg	missense variant	-	NC_000002.12:g.217818107C>T	ExAC,TOPMed,gnomAD
rs954549876	p.Gly1306Arg	missense variant	-	NC_000002.12:g.217818104C>T	TOPMed
rs745593139	p.Gly1306Val	missense variant	-	NC_000002.12:g.217818103C>A	ExAC,gnomAD
rs1485592693	p.Gly1308Arg	missense variant	-	NC_000002.12:g.217818098C>T	gnomAD
rs1339238009	p.Val1310Leu	missense variant	-	NC_000002.12:g.217818092C>G	TOPMed
rs1266041725	p.Pro1312Leu	missense variant	-	NC_000002.12:g.217818085G>A	gnomAD
COSM720021	p.Pro1312Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217818086G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1313AlaPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.217818082C>-	NCI-TCGA
NCI-TCGA novel	p.Gly1313Ala	missense variant	-	NC_000002.12:g.217818082C>G	NCI-TCGA
rs755972447	p.Gly1313Ser	missense variant	-	NC_000002.12:g.217818083C>T	ExAC,TOPMed,gnomAD
rs1314849677	p.Gly1313Asp	missense variant	-	NC_000002.12:g.217818082C>T	gnomAD
rs998657845	p.Pro1315Leu	missense variant	-	NC_000002.12:g.217818076G>A	TOPMed
rs998657845	p.Pro1315His	missense variant	-	NC_000002.12:g.217818076G>T	TOPMed
NCI-TCGA novel	p.Pro1315Ser	missense variant	-	NC_000002.12:g.217818077G>A	NCI-TCGA
NCI-TCGA novel	p.Cys1316Ter	stop gained	-	NC_000002.12:g.217818072G>T	NCI-TCGA
rs748380403	p.Cys1316Tyr	missense variant	-	NC_000002.12:g.217818073C>T	ExAC,gnomAD
rs768744958	p.Leu1317Ser	missense variant	-	NC_000002.12:g.217818070A>G	ExAC,gnomAD
rs779047819	p.Leu1317Val	missense variant	-	NC_000002.12:g.217818071A>C	ExAC,gnomAD
rs780483243	p.Asp1318Asn	missense variant	-	NC_000002.12:g.217818068C>T	ExAC,gnomAD
rs375150652	p.Arg1319Gln	missense variant	-	NC_000002.12:g.217818064C>T	ESP,ExAC,gnomAD
rs756615716	p.Arg1319Trp	missense variant	-	NC_000002.12:g.217818065G>A	ExAC,TOPMed,gnomAD
rs200704877	p.His1320Arg	missense variant	-	NC_000002.12:g.217818061T>C	1000Genomes,gnomAD
rs192246394	p.His1320Asp	missense variant	-	NC_000002.12:g.217818062G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs192246394	p.His1320Tyr	missense variant	-	NC_000002.12:g.217818062G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1192389733	p.Ala1322Thr	missense variant	-	NC_000002.12:g.217818056C>T	gnomAD
rs114082928	p.Tyr1323Cys	missense variant	-	NC_000002.12:g.217818052T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1489932110	p.Gly1325Ser	missense variant	-	NC_000002.12:g.217818047C>T	gnomAD
rs1489932110	p.Gly1325Cys	missense variant	-	NC_000002.12:g.217818047C>A	gnomAD
rs1291354252	p.Tyr1326His	missense variant	-	NC_000002.12:g.217818044A>G	gnomAD
rs540245275	p.Tyr1326Cys	missense variant	-	NC_000002.12:g.217818043T>C	1000Genomes,ExAC,gnomAD
rs764908390	p.Ser1327Phe	missense variant	-	NC_000002.12:g.217818040G>A	ExAC,gnomAD
rs752261994	p.Ser1327Thr	missense variant	-	NC_000002.12:g.217818041A>T	ExAC
COSM1405397	p.Ser1327Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217818040G>C	NCI-TCGA Cosmic
rs140830200	p.Thr1328Ile	missense variant	-	NC_000002.12:g.217818037G>A	ESP,ExAC,TOPMed,gnomAD
rs759534034	p.Thr1328Ala	missense variant	-	NC_000002.12:g.217818038T>C	ExAC,TOPMed,gnomAD
rs140104262	p.Pro1329Leu	missense variant	-	NC_000002.12:g.217818034G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140104262	p.Pro1329Arg	missense variant	-	NC_000002.12:g.217818034G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs564618959	p.Asp1331Gly	missense variant	-	NC_000002.12:g.217818028T>C	1000Genomes,ExAC,gnomAD
rs768776020	p.Asp1331Asn	missense variant	-	NC_000002.12:g.217818029C>T	ExAC,gnomAD
rs747091639	p.Arg1332Gln	missense variant	-	NC_000002.12:g.217818025C>T	ExAC
rs565596219	p.Arg1332Trp	missense variant	-	NC_000002.12:g.217818026G>A	ExAC,TOPMed,gnomAD
rs781588999	p.Pro1334His	missense variant	-	NC_000002.12:g.217818019G>T	ExAC,TOPMed,gnomAD
rs757600215	p.Thr1335Ile	missense variant	-	NC_000002.12:g.217818016G>A	ExAC,gnomAD
rs757983950	p.Leu1336Pro	missense variant	-	NC_000002.12:g.217818013A>G	ExAC,TOPMed
rs752456483	p.Ser1337Tyr	missense variant	-	NC_000002.12:g.217818010G>T	ExAC,gnomAD
rs201601812	p.Arg1338Gln	missense variant	-	NC_000002.12:g.217818007C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147499675	p.Arg1338Gly	missense variant	-	NC_000002.12:g.217818008G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147499675	p.Arg1338Trp	missense variant	-	NC_000002.12:g.217818008G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1355764570	p.Gln1339Glu	missense variant	-	NC_000002.12:g.217818005G>C	TOPMed,gnomAD
rs1183164576	p.Ser1340Asn	missense variant	-	NC_000002.12:g.217818001C>T	TOPMed,gnomAD
rs1254409410	p.Ala1342Asp	missense variant	-	NC_000002.12:g.217817995G>T	TOPMed
rs753791826	p.Ser1343Phe	missense variant	-	NC_000002.12:g.217817992G>A	ExAC,TOPMed,gnomAD
rs1248925317	p.Tyr1345Cys	missense variant	-	NC_000002.12:g.217817986T>C	gnomAD
rs766253684	p.Ala1347Pro	missense variant	-	NC_000002.12:g.217817981C>G	ExAC,gnomAD
rs1258315298	p.Pro1348His	missense variant	-	NC_000002.12:g.217817977G>T	gnomAD
rs760464081	p.Pro1348Ser	missense variant	-	NC_000002.12:g.217817978G>A	ExAC,gnomAD
rs772889773	p.Thr1350Met	missense variant	-	NC_000002.12:g.217817971G>A	ExAC,gnomAD
rs368604589	p.Pro1351Leu	missense variant	-	NC_000002.12:g.217817968G>A	ESP,ExAC,TOPMed,gnomAD
rs771967175	p.Pro1351Thr	missense variant	-	NC_000002.12:g.217817969G>T	ExAC,gnomAD
rs368604589	p.Pro1351Arg	missense variant	-	NC_000002.12:g.217817968G>C	ESP,ExAC,TOPMed,gnomAD
rs771967175	p.Pro1351Ser	missense variant	-	NC_000002.12:g.217817969G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser1352Pro	missense variant	-	NC_000002.12:g.217817966A>G	NCI-TCGA
rs775735259	p.Pro1354Ser	missense variant	-	NC_000002.12:g.217817960G>A	ExAC,gnomAD
rs769830145	p.Val1355Ala	missense variant	-	NC_000002.12:g.217817956A>G	ExAC
rs557552474	p.Ser1356Pro	missense variant	-	NC_000002.12:g.217817954A>G	1000Genomes,ExAC,gnomAD
rs542462540	p.Ser1356Phe	missense variant	-	NC_000002.12:g.217817953G>A	1000Genomes,ExAC,gnomAD
rs1469166694	p.Pro1357Ser	missense variant	-	NC_000002.12:g.217817951G>A	gnomAD
rs1453489558	p.Ala1358Val	missense variant	-	NC_000002.12:g.217817947G>A	TOPMed
rs777988243	p.Tyr1359Cys	missense variant	-	NC_000002.12:g.217817944T>C	ExAC,gnomAD
rs1171353105	p.Pro1361Ser	missense variant	-	NC_000002.12:g.217817939G>A	TOPMed
NCI-TCGA novel	p.Gly1362Asp	missense variant	-	NC_000002.12:g.217817935C>T	NCI-TCGA
NCI-TCGA novel	p.Leu1363Pro	missense variant	-	NC_000002.12:g.217817932A>G	NCI-TCGA
rs199649844	p.Leu1363Val	missense variant	-	NC_000002.12:g.217817933G>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM4091351	p.Ser1365Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217817927T>G	NCI-TCGA Cosmic
rs747772246	p.Pro1366Ser	missense variant	-	NC_000002.12:g.217817924G>A	ExAC,gnomAD
rs766275252	p.Pro1370Gln	missense variant	-	NC_000002.12:g.217817911G>T	ExAC,TOPMed,gnomAD
rs766275252	p.Pro1370Leu	missense variant	-	NC_000002.12:g.217817911G>A	ExAC,TOPMed,gnomAD
rs1202405737	p.Asp1373Gly	missense variant	-	NC_000002.12:g.217817902T>C	gnomAD
rs1445139574	p.Ser1374Phe	missense variant	-	NC_000002.12:g.217817899G>A	TOPMed
rs761632833	p.Ala1375Val	missense variant	-	NC_000002.12:g.217817896G>A	ExAC,TOPMed,gnomAD
rs143531869	p.Ala1375Thr	missense variant	-	NC_000002.12:g.217817897C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1016258	p.Ala1376Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217817894C>T	NCI-TCGA Cosmic
rs765466438	p.Arg1378Gln	missense variant	-	NC_000002.12:g.217817887C>T	ExAC,gnomAD
rs144402716	p.Arg1378Trp	missense variant	-	NC_000002.12:g.217817888G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1380Val	missense variant	-	NC_000002.12:g.217817881C>A	NCI-TCGA
COSM1482760	p.Ser1381Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217817877G>T	NCI-TCGA Cosmic
rs139365440	p.Thr1383Ile	missense variant	-	NC_000002.12:g.217817872G>A	ESP,ExAC
rs771102432	p.Pro1384Gln	missense variant	-	NC_000002.12:g.217817869G>T	ExAC,gnomAD
rs747452943	p.Pro1387Ser	missense variant	-	NC_000002.12:g.217817861G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1388Asp	missense variant	-	NC_000002.12:g.217817856C>A	NCI-TCGA
rs772526212	p.Glu1388Val	missense variant	-	NC_000002.12:g.217817857T>A	ExAC,TOPMed,gnomAD
rs377123667	p.Glu1388Lys	missense variant	-	NC_000002.12:g.217817858C>T	ESP,ExAC,gnomAD
rs748549540	p.Arg1390Gln	missense variant	-	NC_000002.12:g.217817851C>T	ExAC,TOPMed,gnomAD
rs372383802	p.Arg1391Ser	missense variant	-	NC_000002.12:g.217817847C>G	ESP,ExAC,TOPMed,gnomAD
rs1444603542	p.Met1392Thr	missense variant	-	NC_000002.12:g.217817845A>G	TOPMed,gnomAD
rs1444603542	p.Met1392Lys	missense variant	-	NC_000002.12:g.217817845A>T	TOPMed,gnomAD
rs754684344	p.Ser1393Leu	missense variant	-	NC_000002.12:g.217817842G>A	ExAC,gnomAD
rs1433364341	p.Val1394Ala	missense variant	-	NC_000002.12:g.217817839A>G	TOPMed
rs779414826	p.Asp1396Asn	missense variant	-	NC_000002.12:g.217817834C>T	ExAC,TOPMed,gnomAD
rs368264531	p.Arg1397Trp	missense variant	-	NC_000002.12:g.217817831G>A	ESP,ExAC,TOPMed,gnomAD
rs750292210	p.Arg1397Gln	missense variant	-	NC_000002.12:g.217817830C>T	ExAC,TOPMed,gnomAD
rs1245017180	p.Ala1398Ser	missense variant	-	NC_000002.12:g.217817828C>A	gnomAD
rs756995677	p.Ala1398Glu	missense variant	-	NC_000002.12:g.217817827G>T	ExAC,gnomAD
rs751369200	p.Leu1401Phe	missense variant	-	NC_000002.12:g.217817819G>A	ExAC,gnomAD
rs765374803	p.Pro1402Ala	missense variant	-	NC_000002.12:g.217817816G>C	ExAC,TOPMed,gnomAD
rs765374803	p.Pro1402Ser	missense variant	-	NC_000002.12:g.217817816G>A	ExAC,TOPMed,gnomAD
rs1317712411	p.Asn1403Ser	missense variant	-	NC_000002.12:g.217817812T>C	gnomAD
rs759748278	p.Ile1407Asn	missense variant	-	NC_000002.12:g.217817800A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile1407Met	missense variant	-	NC_000002.12:g.217817799G>C	NCI-TCGA
rs1367647958	p.Asn1408Ser	missense variant	-	NC_000002.12:g.217817797T>C	gnomAD
rs1161858564	p.Asn1408Lys	missense variant	-	NC_000002.12:g.217817796A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Lys1410ArgPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.217817793C>-	NCI-TCGA
rs766339399	p.Lys1410Asn	missense variant	-	NC_000002.12:g.217817790C>A	ExAC,gnomAD
rs776963230	p.Lys1410Thr	missense variant	-	NC_000002.12:g.217817791T>G	ExAC,gnomAD
rs773547543	p.Val1411Ala	missense variant	-	NC_000002.12:g.217817788A>G	ExAC,gnomAD
rs539307477	p.Val1411Met	missense variant	-	NC_000002.12:g.217817789C>T	1000Genomes,ExAC,gnomAD
rs143109214	p.Ser1412Pro	missense variant	-	NC_000002.12:g.217817786A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143109214	p.Ser1412Ala	missense variant	-	NC_000002.12:g.217817786A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143109214	p.Ser1412Thr	missense variant	-	NC_000002.12:g.217817786A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374846656	p.Ser1413Leu	missense variant	-	NC_000002.12:g.217817782G>A	ESP,ExAC,TOPMed,gnomAD
rs61746065	p.Ala1416Thr	missense variant	-	NC_000002.12:g.217817774C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751563581	p.Met1419Thr	missense variant	-	NC_000002.12:g.217817764A>G	ExAC,gnomAD
rs777523404	p.Met1419Ile	missense variant	-	NC_000002.12:g.217817763C>T	ExAC,gnomAD
rs1301537873	p.Ser1423Gly	missense variant	-	NC_000002.12:g.217817753T>C	gnomAD
rs1404488644	p.Ser1423Asn	missense variant	-	NC_000002.12:g.217817752C>T	gnomAD
rs1371490574	p.Gly1424Arg	missense variant	-	NC_000002.12:g.217817750C>T	gnomAD
rs919328445	p.Gly1425Asp	missense variant	-	NC_000002.12:g.217817746C>T	TOPMed
rs760616604	p.Ser1426Thr	missense variant	-	NC_000002.12:g.217817743C>G	ExAC,TOPMed,gnomAD
rs760616604	p.Ser1426Asn	missense variant	-	NC_000002.12:g.217817743C>T	ExAC,TOPMed,gnomAD
rs1408762545	p.Thr1427Ile	missense variant	-	NC_000002.12:g.217817740G>A	gnomAD
rs151105778	p.Val1428Ile	missense variant	-	NC_000002.12:g.217817738C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762398925	p.Thr1433Ser	missense variant	-	NC_000002.12:g.217817722G>C	ExAC,gnomAD
rs1198325727	p.Leu1434Pro	missense variant	-	NC_000002.12:g.217817719A>G	gnomAD
NCI-TCGA novel	p.Leu1434AlaPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.217817719_217817720AG>-	NCI-TCGA
rs775043696	p.Pro1435His	missense variant	-	NC_000002.12:g.217817716G>T	ExAC,gnomAD
rs774953060	p.Asp1436Ala	missense variant	-	NC_000002.12:g.217817713T>G	ExAC,gnomAD
rs763402455	p.Asp1436Asn	missense variant	-	NC_000002.12:g.217817714C>T	ExAC,TOPMed,gnomAD
rs1325764905	p.Phe1437Cys	missense variant	-	NC_000002.12:g.217817710A>C	gnomAD
rs769499196	p.Phe1437Leu	missense variant	-	NC_000002.12:g.217817711A>G	ExAC,gnomAD
rs745309678	p.Ser1438Phe	missense variant	-	NC_000002.12:g.217817707G>A	ExAC,gnomAD
COSM4091350	p.Tyr1440His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217817702A>G	NCI-TCGA Cosmic
rs780674954	p.Met1442Val	missense variant	-	NC_000002.12:g.217817696T>C	ExAC,gnomAD
rs780674954	p.Met1442Leu	missense variant	-	NC_000002.12:g.217817696T>G	ExAC,gnomAD
rs765584934	p.Asp1444Glu	missense variant	-	NC_000002.12:g.217814997G>C	ExAC,gnomAD
rs759173931	p.Asn1445Lys	missense variant	-	NC_000002.12:g.217814994G>T	ExAC,gnomAD
rs1453879871	p.Ser1446Arg	missense variant	-	NC_000002.12:g.217814991G>C	gnomAD
rs144860480	p.Pro1447Arg	missense variant	-	NC_000002.12:g.217814989G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777573962	p.Pro1447Ser	missense variant	-	NC_000002.12:g.217814990G>A	gnomAD
rs144860480	p.Pro1447Leu	missense variant	-	NC_000002.12:g.217814989G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777573962	p.Pro1447Ala	missense variant	-	NC_000002.12:g.217814990G>C	gnomAD
rs374445594	p.Thr1449Met	missense variant	-	NC_000002.12:g.217814983G>A	ExAC,TOPMed,gnomAD
rs1418144683	p.Thr1449Ser	missense variant	-	NC_000002.12:g.217814984T>A	gnomAD
rs374445594	p.Thr1449Lys	missense variant	-	NC_000002.12:g.217814983G>T	ExAC,TOPMed,gnomAD
rs772055099	p.Arg1450Trp	missense variant	-	NC_000002.12:g.217814981G>A	ExAC,TOPMed,gnomAD
rs748105499	p.Arg1450Gln	missense variant	-	NC_000002.12:g.217814980C>T	ExAC,gnomAD
rs1209218903	p.Val1453Met	missense variant	-	NC_000002.12:g.217814972C>T	gnomAD
rs754781771	p.Lys1454Asn	missense variant	-	NC_000002.12:g.217814967C>A	ExAC,gnomAD
COSM1129330	p.Phe1455Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217814966A>C	NCI-TCGA Cosmic
rs201496749	p.Ser1460Ala	missense variant	-	NC_000002.12:g.217814951A>C	1000Genomes,ExAC,gnomAD
rs751700217	p.Tyr1462Phe	missense variant	-	NC_000002.12:g.217814944T>A	ExAC,gnomAD
rs751700217	p.Tyr1462Cys	missense variant	-	NC_000002.12:g.217814944T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu1467Asp	missense variant	-	NC_000002.12:g.217814928C>A	NCI-TCGA
rs1380979229	p.Glu1467Asp	missense variant	-	NC_000002.12:g.217814928C>G	gnomAD
rs758939352	p.Ser1469Pro	missense variant	-	NC_000002.12:g.217814924A>G	ExAC,gnomAD
rs753200738	p.Ser1469Phe	missense variant	-	NC_000002.12:g.217814923G>A	ExAC,gnomAD
rs1363539578	p.Arg1470Ser	missense variant	-	NC_000002.12:g.217814919C>G	gnomAD
rs1286597772	p.Glu1471Asp	missense variant	-	NC_000002.12:g.217814916C>A	gnomAD
rs1452661164	p.Gln1472Pro	missense variant	-	NC_000002.12:g.217814914T>G	gnomAD
COSM720022	p.Gln1472Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217814915G>T	NCI-TCGA Cosmic
rs1365774903	p.Ala1473Thr	missense variant	-	NC_000002.12:g.217814912C>T	gnomAD
rs760310159	p.Ile1474Val	missense variant	-	NC_000002.12:g.217813814T>C	ExAC,TOPMed,gnomAD
rs147272941	p.Ala1475Val	missense variant	-	NC_000002.12:g.217813810G>A	ESP,ExAC,TOPMed,gnomAD
rs369175639	p.Ala1475Thr	missense variant	-	NC_000002.12:g.217813811C>T	ESP,ExAC,TOPMed,gnomAD
rs147272941	p.Ala1475Glu	missense variant	-	NC_000002.12:g.217813810G>T	ESP,ExAC,TOPMed,gnomAD
rs369175639	p.Ala1475Pro	missense variant	-	NC_000002.12:g.217813811C>G	ESP,ExAC,TOPMed,gnomAD
rs1344447637	p.Leu1476Phe	missense variant	-	NC_000002.12:g.217813808G>A	TOPMed,gnomAD
rs762766252	p.Pro1482Leu	missense variant	-	NC_000002.12:g.217813789G>A	ExAC,TOPMed,gnomAD
rs775419910	p.Gly1483Trp	missense variant	-	NC_000002.12:g.217813787C>A	ExAC
rs1297540064	p.Phe1485Ser	missense variant	-	NC_000002.12:g.217813780A>G	gnomAD
rs1411335259	p.Ile1486Asn	missense variant	-	NC_000002.12:g.217813777A>T	gnomAD
rs769767402	p.Arg1488Cys	missense variant	-	NC_000002.12:g.217813772G>A	ExAC,gnomAD
rs777896296	p.Asp1489Asn	missense variant	-	NC_000002.12:g.217813769C>T	ExAC,TOPMed,gnomAD
rs16858264	p.Arg1494Gln	missense variant	-	NC_000002.12:g.217813753C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs16858264	p.Arg1494Pro	missense variant	-	NC_000002.12:g.217813753C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs370042202	p.Ala1496Glu	missense variant	-	NC_000002.12:g.217813747G>T	ESP,TOPMed,gnomAD
rs370042202	p.Ala1496Val	missense variant	-	NC_000002.12:g.217813747G>A	ESP,TOPMed,gnomAD
COSM4091349	p.Ala1496Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217813748C>T	NCI-TCGA Cosmic
rs1436052337	p.Gly1498Arg	missense variant	-	NC_000002.12:g.217813742C>T	TOPMed
rs756515412	p.Leu1499Met	missense variant	-	NC_000002.12:g.217813739G>T	ExAC,TOPMed,gnomAD
rs724159925	p.Ala1500Thr	missense variant	-	NC_000002.12:g.217813736C>T	ExAC,gnomAD
rs724159925	p.Ala1500Ser	missense variant	-	NC_000002.12:g.217813736C>A	ExAC,gnomAD
rs1016835748	p.Met1501Thr	missense variant	-	NC_000002.12:g.217813732A>G	TOPMed
rs767095119	p.Met1501Leu	missense variant	-	NC_000002.12:g.217813733T>G	ExAC,gnomAD
rs1322157273	p.Met1501Ile	missense variant	-	NC_000002.12:g.217813731C>T	gnomAD
rs1279788211	p.Lys1502Arg	missense variant	-	NC_000002.12:g.217813729T>C	gnomAD
rs372210857	p.Ser1504Pro	missense variant	-	NC_000002.12:g.217813724A>G	ESP,ExAC,TOPMed,gnomAD
rs763763057	p.Ser1505Leu	missense variant	-	NC_000002.12:g.217813720G>A	ExAC,TOPMed,gnomAD
COSM1016256	p.Pro1506Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217813718G>A	NCI-TCGA Cosmic
rs1269778580	p.Pro1507Leu	missense variant	-	NC_000002.12:g.217813714G>A	TOPMed
rs762969076	p.Thr1509Ala	missense variant	-	NC_000002.12:g.217813709T>C	ExAC,gnomAD
rs1329480251	p.Thr1509Ile	missense variant	-	NC_000002.12:g.217813708G>A	TOPMed
rs1240829704	p.Met1511Ile	missense variant	-	NC_000002.12:g.217813701C>T	TOPMed
rs775670202	p.Met1511Lys	missense variant	-	NC_000002.12:g.217813702A>T	ExAC,TOPMed,gnomAD
rs775670202	p.Met1511Thr	missense variant	-	NC_000002.12:g.217813702A>G	ExAC,TOPMed,gnomAD
rs202014996	p.Gln1512Pro	missense variant	-	NC_000002.12:g.217813699T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs202014996	p.Gln1512Arg	missense variant	-	NC_000002.12:g.217813699T>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM1016255	p.Gln1512His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217813698C>A	NCI-TCGA Cosmic
rs1380677122	p.Gln1513Arg	missense variant	-	NC_000002.12:g.217813696T>C	gnomAD
rs773425843	p.Asn1514Ile	missense variant	-	NC_000002.12:g.217813693T>A	ExAC,gnomAD
rs773425843	p.Asn1514Ser	missense variant	-	NC_000002.12:g.217813693T>C	ExAC,gnomAD
rs751282040	p.His1521Arg	missense variant	-	NC_000002.12:g.217813295T>C	ExAC,gnomAD
NCI-TCGA novel	p.His1526Asp	missense variant	-	NC_000002.12:g.217813281G>C	NCI-TCGA
rs763673262	p.Phe1527Ile	missense variant	-	NC_000002.12:g.217813278A>T	ExAC,gnomAD
rs1244670248	p.Ile1529Leu	missense variant	-	NC_000002.12:g.217813272T>A	TOPMed
rs1262046447	p.Thr1531Ile	missense variant	-	NC_000002.12:g.217813265G>A	gnomAD
rs1222694412	p.Gly1532Ser	missense variant	-	NC_000002.12:g.217813263C>T	gnomAD
rs560667520	p.Gly1532Asp	missense variant	-	NC_000002.12:g.217813262C>T	1000Genomes,ExAC,gnomAD
rs1358944494	p.Pro1533Arg	missense variant	-	NC_000002.12:g.217813259G>C	TOPMed
rs1289309042	p.Pro1533Thr	missense variant	-	NC_000002.12:g.217813260G>T	TOPMed,gnomAD
rs1289309042	p.Pro1533Ala	missense variant	-	NC_000002.12:g.217813260G>C	TOPMed,gnomAD
rs1289309042	p.Pro1533Ser	missense variant	-	NC_000002.12:g.217813260G>A	TOPMed,gnomAD
rs752642025	p.Arg1534Gly	missense variant	-	NC_000002.12:g.217813257T>C	ExAC,gnomAD
rs1271816622	p.Val1536Ile	missense variant	-	NC_000002.12:g.217813251C>T	TOPMed,gnomAD
rs1433011321	p.Lys1537Asn	missense variant	-	NC_000002.12:g.217813246C>A	gnomAD
COSM1405396	p.Leu1538Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217813245G>A	NCI-TCGA Cosmic
rs1411667363	p.Lys1539Glu	missense variant	-	NC_000002.12:g.217813242T>C	TOPMed,gnomAD
rs765280235	p.Gly1540Asp	missense variant	-	NC_000002.12:g.217813238C>T	ExAC,gnomAD
rs1297827530	p.Gly1540Ser	missense variant	-	NC_000002.12:g.217813239C>T	gnomAD
rs1162028845	p.Pro1542Ser	missense variant	-	NC_000002.12:g.217813233G>A	gnomAD
rs375433855	p.Asn1543Ser	missense variant	-	NC_000002.12:g.217813229T>C	ESP,ExAC,TOPMed,gnomAD
rs1463699370	p.Asn1543Asp	missense variant	-	NC_000002.12:g.217813230T>C	TOPMed
rs1420883015	p.Glu1544Lys	missense variant	-	NC_000002.12:g.217813227C>T	gnomAD
rs1474148443	p.Pro1545Ser	missense variant	-	NC_000002.12:g.217813224G>A	gnomAD
rs1248701399	p.Asn1546Asp	missense variant	-	NC_000002.12:g.217813221T>C	TOPMed
rs1199780352	p.Gly1548Arg	missense variant	-	NC_000002.12:g.217813215C>T	gnomAD
rs758120076	p.Ser1549Ala	missense variant	-	NC_000002.12:g.217812443A>C	ExAC,gnomAD
rs547668519	p.Ser1551Thr	missense variant	-	NC_000002.12:g.217812437A>T	ExAC,TOPMed,gnomAD
rs1170303094	p.Tyr1555Cys	missense variant	-	NC_000002.12:g.217812424T>C	TOPMed
rs750220902	p.Ile1559Thr	missense variant	-	NC_000002.12:g.217812412A>G	ExAC,gnomAD
rs148198079	p.Ile1560Met	missense variant	-	NC_000002.12:g.217812408G>C	1000Genomes
rs1209749687	p.Ala1563Val	missense variant	-	NC_000002.12:g.217812400G>A	gnomAD
rs1254327892	p.Ala1563Ser	missense variant	-	NC_000002.12:g.217812401C>A	gnomAD
rs957870794	p.Pro1565Leu	missense variant	-	NC_000002.12:g.217812394G>A	TOPMed
NCI-TCGA novel	p.Leu1568Arg	missense variant	-	NC_000002.12:g.217812385A>C	NCI-TCGA
rs1342136962	p.Ile1570Leu	missense variant	-	NC_000002.12:g.217812380T>G	TOPMed
rs765199493	p.Arg1573Ter	stop gained	-	NC_000002.12:g.217812371G>A	ExAC,gnomAD
rs776954136	p.Arg1573Leu	missense variant	-	NC_000002.12:g.217812370C>A	ExAC,TOPMed,gnomAD
rs776954136	p.Arg1573Gln	missense variant	-	NC_000002.12:g.217812370C>T	ExAC,TOPMed,gnomAD
rs1400400385	p.Pro1575Ala	missense variant	-	NC_000002.12:g.217810317G>C	TOPMed
COSM268203	p.Pro1575His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217810316G>T	NCI-TCGA Cosmic
rs200737049	p.Thr1576Arg	missense variant	-	NC_000002.12:g.217810313G>C	ExAC,TOPMed,gnomAD
rs200737049	p.Thr1576Ile	missense variant	-	NC_000002.12:g.217810313G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1577His	missense variant	-	NC_000002.12:g.217810311C>G	NCI-TCGA
rs1320416336	p.Asp1577Gly	missense variant	-	NC_000002.12:g.217810310T>C	gnomAD
rs1214666698	p.Glu1578Ala	missense variant	-	NC_000002.12:g.217810307T>G	gnomAD
rs753948729	p.Ser1579Leu	missense variant	-	NC_000002.12:g.217810304G>A	ExAC,TOPMed,gnomAD
rs1399006308	p.Lys1580Arg	missense variant	-	NC_000002.12:g.217810301T>C	TOPMed,gnomAD
rs1050037392	p.Asp1581His	missense variant	-	NC_000002.12:g.217810299C>G	TOPMed
rs761243672	p.Asp1581Gly	missense variant	-	NC_000002.12:g.217810298T>C	ExAC,TOPMed,gnomAD
rs200040655	p.Ser1583Thr	missense variant	-	NC_000002.12:g.217810293A>T	1000Genomes
rs371630425	p.Gly1584Arg	missense variant	-	NC_000002.12:g.217810290C>G	ExAC,TOPMed,gnomAD
rs371630425	p.Gly1584Ser	missense variant	-	NC_000002.12:g.217810290C>T	ExAC,TOPMed,gnomAD
COSM6090122	p.Gly1584Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217810290C>A	NCI-TCGA Cosmic
rs773821717	p.Pro1585Arg	missense variant	-	NC_000002.12:g.217810286G>C	ExAC,gnomAD
rs748956121	p.Ala1586Asp	missense variant	-	NC_000002.12:g.217810283G>T	ExAC,gnomAD
rs768354702	p.Ala1586Ser	missense variant	-	NC_000002.12:g.217810284C>A	ExAC,gnomAD
rs1488075249	p.Asn1587Asp	missense variant	-	NC_000002.12:g.217810281T>C	gnomAD
rs1270105816	p.Asn1587Lys	missense variant	-	NC_000002.12:g.217810279G>C	gnomAD
rs200709775	p.Asn1587Ser	missense variant	-	NC_000002.12:g.217810280T>C	1000Genomes
rs1220268015	p.Thr1589Ile	missense variant	-	NC_000002.12:g.217810274G>A	gnomAD
rs913909896	p.Asp1591Val	missense variant	-	NC_000002.12:g.217810268T>A	TOPMed
rs775048638	p.Leu1593Arg	missense variant	-	NC_000002.12:g.217810262A>C	ExAC,gnomAD
rs1251102367	p.Gln1595Glu	missense variant	-	NC_000002.12:g.217810257G>C	TOPMed
rs1469744089	p.Ala1597Gly	missense variant	-	NC_000002.12:g.217810250G>C	TOPMed
rs762642338	p.Ala1598Val	missense variant	-	NC_000002.12:g.217809991G>A	ExAC,gnomAD
rs182528477	p.Cys1599Phe	missense variant	-	NC_000002.12:g.217809988C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs769251500	p.Asn1600Asp	missense variant	-	NC_000002.12:g.217809986T>C	ExAC,TOPMed,gnomAD
rs1307417692	p.Asn1600Ser	missense variant	-	NC_000002.12:g.217809985T>C	gnomAD
rs918949	p.Val1604Ile	missense variant	-	NC_000002.12:g.217809974C>T	UniProt,dbSNP
VAR_047071	p.Val1604Ile	missense variant	-	NC_000002.12:g.217809974C>T	UniProt
rs918949	p.Val1604Ile	missense variant	-	NC_000002.12:g.217809974C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758169617	p.Val1604Ala	missense variant	-	NC_000002.12:g.217809973A>G	ExAC,gnomAD
rs918949	p.Val1604Leu	missense variant	-	NC_000002.12:g.217809974C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4091348	p.Val1607Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217809964A>G	NCI-TCGA Cosmic
rs756207610	p.Met1609Leu	missense variant	-	NC_000002.12:g.217809959T>G	ExAC,TOPMed,gnomAD
COSM4846575	p.Glu1610Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217809956C>G	NCI-TCGA Cosmic
rs1334007478	p.Lys1620Asn	missense variant	-	NC_000002.12:g.217809924T>A	TOPMed
rs140596738	p.Ala1621Thr	missense variant	-	NC_000002.12:g.217809923C>T	ESP,gnomAD
rs750538575	p.Thr1622Ile	missense variant	-	NC_000002.12:g.217809919G>A	ExAC,TOPMed,gnomAD
rs767768746	p.Thr1625Lys	missense variant	-	NC_000002.12:g.217809910G>T	ExAC,TOPMed,gnomAD
rs767768746	p.Thr1625Met	missense variant	-	NC_000002.12:g.217809910G>A	ExAC,TOPMed,gnomAD
rs764485737	p.Leu1626Met	missense variant	-	NC_000002.12:g.217809908A>T	ExAC,gnomAD
rs763256623	p.Leu1626Phe	missense variant	-	NC_000002.12:g.217809906C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala1627Ser	missense variant	-	NC_000002.12:g.217809905C>A	NCI-TCGA
rs936663410	p.Ala1628Thr	missense variant	-	NC_000002.12:g.217809902C>T	TOPMed,gnomAD
rs936663410	p.Ala1628Ser	missense variant	-	NC_000002.12:g.217809902C>A	TOPMed,gnomAD
rs763059354	p.Asp1629Asn	missense variant	-	NC_000002.12:g.217809899C>T	gnomAD
rs201270225	p.Asp1629Gly	missense variant	-	NC_000002.12:g.217809898T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1630His	missense variant	-	NC_000002.12:g.217809895G>T	NCI-TCGA
rs200402809	p.Pro1630Thr	missense variant	-	NC_000002.12:g.217809896G>T	gnomAD
rs200402809	p.Pro1630Ser	missense variant	-	NC_000002.12:g.217809896G>A	gnomAD
rs758979599	p.Thr1631Met	missense variant	-	NC_000002.12:g.217809892G>A	ExAC,TOPMed,gnomAD
rs764881368	p.Thr1631Ala	missense variant	-	NC_000002.12:g.217809893T>C	ExAC,TOPMed,gnomAD
rs1336220602	p.Pro1632Leu	missense variant	-	NC_000002.12:g.217809889G>A	gnomAD
rs1381460691	p.Pro1632Ala	missense variant	-	NC_000002.12:g.217809890G>C	TOPMed
rs773056635	p.Thr1635Ala	missense variant	-	NC_000002.12:g.217809881T>C	ExAC,gnomAD
rs747912694	p.Val1637Ala	missense variant	-	NC_000002.12:g.217809874A>G	ExAC,TOPMed,gnomAD
rs201730716	p.Val1637Ile	missense variant	-	NC_000002.12:g.217809875C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM3798628	p.Phe1639Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217809867G>C	NCI-TCGA Cosmic
rs548553618	p.Gln1644Pro	missense variant	-	NC_000002.12:g.217809853T>G	1000Genomes,ExAC,gnomAD
rs1361170595	p.Thr1647Ile	missense variant	-	NC_000002.12:g.217809844G>A	TOPMed
rs1441290367	p.Gln1652His	missense variant	-	NC_000002.12:g.217809828C>G	gnomAD
rs779217268	p.Arg1659His	missense variant	-	NC_000002.12:g.217808657C>T	ExAC,gnomAD
rs753252697	p.Arg1659Cys	missense variant	-	NC_000002.12:g.217808658G>A	ExAC,gnomAD
rs1307321406	p.Asp1670Glu	missense variant	-	NC_000002.12:g.217808623G>T	TOPMed
rs1304789801	p.Asp1670Gly	missense variant	-	NC_000002.12:g.217808624T>C	TOPMed,gnomAD
rs1266285760	p.Trp1678Cys	missense variant	-	NC_000002.12:g.217808104C>G	TOPMed
rs1221362497	p.Trp1678Arg	missense variant	-	NC_000002.12:g.217808106A>T	TOPMed
rs1490711080	p.Met1679Val	missense variant	-	NC_000002.12:g.217808103T>C	TOPMed
rs372933223	p.Thr1681Ala	missense variant	-	NC_000002.12:g.217808097T>C	ESP,TOPMed,gnomAD
rs372933223	p.Thr1681Pro	missense variant	-	NC_000002.12:g.217808097T>G	ESP,TOPMed,gnomAD
rs1166606831	p.Gly1683Asp	missense variant	-	NC_000002.12:g.217808090C>T	TOPMed
rs750134452	p.Gly1683Ser	missense variant	-	NC_000002.12:g.217808091C>T	ExAC,TOPMed,gnomAD
rs766909547	p.Gly1684Asp	missense variant	-	NC_000002.12:g.217808087C>T	ExAC,gnomAD
rs200309108	p.Ala1685Thr	missense variant	-	NC_000002.12:g.217808085C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1314130457	p.Pro1686Leu	missense variant	-	NC_000002.12:g.217808081G>A	gnomAD
rs201883538	p.Pro1686Ser	missense variant	-	NC_000002.12:g.217808082G>A	ExAC,gnomAD
rs144669301	p.Lys1688Asn	missense variant	-	NC_000002.12:g.217804603C>A	ESP,ExAC,TOPMed,gnomAD
rs144669301	p.Lys1688Asn	missense variant	-	NC_000002.12:g.217804603C>G	ESP,ExAC,TOPMed,gnomAD
rs371703783	p.Phe1690Leu	missense variant	-	NC_000002.12:g.217804597G>C	ExAC,TOPMed,gnomAD
rs1187507777	p.Gly1691Ser	missense variant	-	NC_000002.12:g.217804596C>T	TOPMed
rs762087132	p.Val1693Met	missense variant	-	NC_000002.12:g.217804590C>T	ExAC,gnomAD
COSM1405391	p.Ala1694Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217804587C>T	NCI-TCGA Cosmic
rs768769003	p.Arg1695Gln	missense variant	-	NC_000002.12:g.217804583C>T	ExAC,gnomAD
rs774398480	p.Arg1695Gly	missense variant	-	NC_000002.12:g.217804584G>C	ExAC,TOPMed,gnomAD
rs774398480	p.Arg1695Trp	missense variant	-	NC_000002.12:g.217804584G>A	ExAC,TOPMed,gnomAD
rs61740053	p.Gln1697Lys	missense variant	-	NC_000002.12:g.217804578G>T	TOPMed
rs776099853	p.Ser1699Asn	missense variant	-	NC_000002.12:g.217804571C>T	ExAC,gnomAD
rs1488136169	p.Thr1700Ala	missense variant	-	NC_000002.12:g.217804569T>C	gnomAD
rs61740054	p.Thr1701Met	missense variant	-	NC_000002.12:g.217804565G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770008237	p.Thr1701Ala	missense variant	-	NC_000002.12:g.217804566T>C	ExAC,gnomAD
rs746718057	p.Ala1704Asp	missense variant	-	NC_000002.12:g.217804556G>T	ExAC,TOPMed,gnomAD
rs1218899817	p.Ala1704Thr	missense variant	-	NC_000002.12:g.217804557C>T	TOPMed,gnomAD
rs1275856911	p.Leu1707Val	missense variant	-	NC_000002.12:g.217804548G>C	gnomAD
rs566491497	p.Phe1708Leu	missense variant	-	NC_000002.12:g.217804543A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs757957438	p.Ala1709Thr	missense variant	-	NC_000002.12:g.217804542C>T	ExAC,gnomAD
rs1295290016	p.Asp1712Glu	missense variant	-	NC_000002.12:g.217804531G>T	gnomAD
rs752526470	p.Asp1712Ala	missense variant	-	NC_000002.12:g.217804532T>G	ExAC
rs778921539	p.Pro1713Leu	missense variant	-	NC_000002.12:g.217804529G>A	ExAC,gnomAD
rs778921539	p.Pro1713His	missense variant	-	NC_000002.12:g.217804529G>T	ExAC,gnomAD
rs754661069	p.Asn1714Thr	missense variant	-	NC_000002.12:g.217804526T>G	ExAC,gnomAD
rs1466164129	p.Pro1716Arg	missense variant	-	NC_000002.12:g.217804520G>C	gnomAD
rs1466164129	p.Pro1716Leu	missense variant	-	NC_000002.12:g.217804520G>A	gnomAD
rs761996719	p.Ser1718Phe	missense variant	-	NC_000002.12:g.217804514G>A	ExAC,TOPMed,gnomAD
rs1268483399	p.Ile1720Val	missense variant	-	NC_000002.12:g.217804509T>C	gnomAD
rs1487771568	p.Val1721Ile	missense variant	-	NC_000002.12:g.217804506C>T	TOPMed,gnomAD
rs1487771568	p.Val1721Leu	missense variant	-	NC_000002.12:g.217804506C>G	TOPMed,gnomAD
rs1339824464	p.Asn1722His	missense variant	-	NC_000002.12:g.217804503T>G	TOPMed
rs61741262	p.Asn1722Ser	missense variant	-	NC_000002.12:g.217804502T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61741262	p.Asn1722Thr	missense variant	-	NC_000002.12:g.217804502T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs535983438	p.Val1724Ile	missense variant	-	NC_000002.12:g.217804497C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1725Phe	missense variant	-	NC_000002.12:g.217804493G>A	NCI-TCGA
rs1486620747	p.Ser1725Cys	missense variant	-	NC_000002.12:g.217804493G>C	TOPMed
rs1254844189	p.Met1728Ile	missense variant	-	NC_000002.12:g.217804483C>A	TOPMed
rs1331525980	p.Met1728Val	missense variant	-	NC_000002.12:g.217804485T>C	gnomAD
rs143428830	p.Gly1732Ser	missense variant	-	NC_000002.12:g.217804473C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1230038	p.Gly1732Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217804472C>T	NCI-TCGA Cosmic
COSM442298	p.Gly1732Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.217804472C>A	NCI-TCGA Cosmic
rs1367052236	p.Gln1733Arg	missense variant	-	NC_000002.12:g.217804469T>C	gnomAD
rs1331888541	p.Lys1734Asn	missense variant	-	NC_000002.12:g.217804465C>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002736	Amyotrophic Lateral Sclerosis	disease	BEFREE
C0004096	Asthma	disease	BEFREE;GWASCAT
C0006142	Malignant neoplasm of breast	disease	BEFREE;UNIPROT
C0006826	Malignant Neoplasms	group	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0008925	Cleft Palate	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0016529	Forced expiratory volume function	phenotype	GWASCAT;GWASDB
C0017636	Glioblastoma	disease	BEFREE
C0018553	Hamartoma Syndrome, Multiple	disease	BEFREE
C0018621	Hay fever	disease	BEFREE;GWASCAT
C0020630	Hypophosphatasia	disease	BEFREE
C0022665	Kidney Neoplasm	disease	BEFREE
C0023418	leukemia	disease	BEFREE
C0024117	Chronic Obstructive Airway Disease	disease	BEFREE
C0024131	Lupus Vulgaris	disease	BEFREE
C0024138	Lupus Erythematosus, Discoid	disease	BEFREE
C0024141	Lupus Erythematosus, Systemic	disease	BEFREE
C0024143	Lupus Nephritis	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0025521	Inborn Errors of Metabolism	group	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0036572	Seizures	phenotype	BEFREE
C0206161	Reticulocyte count (procedure)	phenotype	GWASCAT
C0239946	Fibrosis, Liver	disease	BEFREE
C0242422	Parkinsonian Disorders	group	BEFREE
C0278996	Malignant Head and Neck Neoplasm	disease	BEFREE
C0279000	Liver and Intrahepatic Biliary Tract Carcinoma	disease	BEFREE
C0345904	Malignant neoplasm of liver	disease	BEFREE
C0345967	Malignant mesothelioma	disease	BEFREE
C0346629	Malignant neoplasm of large intestine	disease	BEFREE
C0346957	Disseminated Malignant Neoplasm	phenotype	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0409974	Lupus Erythematosus	disease	BEFREE
C0555198	Malignant Glioma	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE;GWASCAT
C0699791	Stomach Carcinoma	disease	BEFREE
C0740457	Malignant neoplasm of kidney	disease	BEFREE
C1378703	Renal carcinoma	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1837218	Cleft palate, isolated	disease	BEFREE
C1839839	MAJOR AFFECTIVE DISORDER 2	disease	BEFREE
C1956346	Coronary Artery Disease	disease	GWASCAT
C2239176	Liver carcinoma	disease	BEFREE
C2981150	Uranostaphyloschisis	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003723	RNA binding	HDA
GO:0003779	actin binding	IEA
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007044	cell-substrate junction assembly	IEA
GO:0010761	fibroblast migration	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IEA
GO:0005856	cytoskeleton	IEA
GO:0005925	focal adhesion	IDA
GO:0005925	focal adhesion	HDA
GO:0009986	cell surface	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C049325	1,2-dithiol-3-thione	1,2-dithiol-3-thione results in decreased expression of TNS1 mRNA	19162173
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in decreased expression of TNS1 mRNA	25270620
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased expression of TNS1 mRNA	24810058
C014211	2,3,7,8-tetrachlorodibenzofuran	2,3,7,8-tetrachlorodibenzofuran affects the expression of TNS1 mRNA	20702594
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene results in decreased expression of TNS1 mRNA	20406850
C583074	4,4'-hexafluorisopropylidene diphenol	4,4'-hexafluorisopropylidene diphenol results in increased expression of TNS1 mRNA	27567155
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TNS1 mRNA	27188386
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in increased expression of TNS1 mRNA	22485181
C496492	abrine	abrine results in increased expression of TNS1 mRNA	22595364
D000082	Acetaminophen	Acetaminophen results in decreased expression of TNS1 mRNA	21420995; 29067470;
D000082	Acetaminophen	Acetaminophen affects the expression of TNS1 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of TNS1 mRNA	21641981
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of TNS1 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of TNS1 intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of TNS1 mRNA	19770486
C068073	Am 580	Am 580 results in decreased expression of TNS1 mRNA	16982809
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of TNS1 mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of TNS1 mRNA	24449571
D001151	Arsenic	Arsenic affects the methylation of TNS1 gene	25304211
D001280	Atrazine	Atrazine results in increased expression of TNS1 mRNA	22378314
C547126	AZM551248	AZM551248 results in increased expression of TNS1 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the expression of TNS1 mRNA	22316170
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of TNS1 mRNA	20106945
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of TNS1 mRNA	21871943
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of TNS1 mRNA	19770486; 21715664;
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in decreased expression of TNS1 mRNA	26377693
C026487	benzo(e)pyrene	benzo(e)pyrene affects the methylation of TNS1 intron	30157460
C023888	beta-hexachlorocyclohexane	beta-hexachlorocyclohexane results in decreased expression of TNS1 mRNA	25270620
D000077610	Bexarotene	Bexarotene results in increased expression of TNS1 mRNA	16648578
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of TNS1 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of TNS1 mRNA	21786754
C006780	bisphenol A	bisphenol A affects the expression of TNS1 mRNA	30903817
C006780	bisphenol A	bisphenol A results in decreased expression of TNS1 mRNA	29275510
C006780	bisphenol A	bisphenol A results in increased expression of TNS1 mRNA	30951980
C006780	bisphenol A	[potassium bromate co-treated with bisphenol A] affects the expression of TNS1 mRNA	27082013
C006780	bisphenol A	[XRCC6 gene mutant form results in increased susceptibility to potassium bromate] affects the reaction [[potassium bromate co-treated with bisphenol A] affects the expression of TNS1 mRNA]	27082013
C006780	bisphenol A	bisphenol A affects the expression of TNS1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in decreased expression of TNS1 mRNA	30816183
C006780	bisphenol A	bisphenol A results in decreased methylation of TNS1 gene	28505145
C006780	bisphenol A	bisphenol A results in increased expression of TNS1 mRNA	29097150
C000611646	bisphenol F	bisphenol F results in increased expression of TNS1 mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in decreased expression of TNS1 mRNA	26079696
C059041	calyculin A	calyculin A results in decreased expression of TNS1 mRNA	25270620
D002509	Cephaloridine	Cephaloridine results in decreased expression of TNS1 mRNA	18500788
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of TNS1 mRNA	25270620
C039671	ciglitazone	[ciglitazone binds to PPARG protein alternative form] which results in increased expression of TNS1 mRNA	16197558
D002922	Ciguatoxins	Ciguatoxins affects the expression of TNS1 mRNA	18353800
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of TNS1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of TNS1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of TNS1 mRNA	22023808
D003300	Copper	[ATP7A gene mutant form results in increased abundance of Copper] which results in increased expression of TNS1 mRNA	15467011
D019327	Copper Sulfate	Copper Sulfate results in increased expression of TNS1 mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased expression of TNS1 mRNA	20106945
D016572	Cyclosporine	Cyclosporine results in decreased expression of TNS1 mRNA	19770486
C007262	deoxynivalenol	deoxynivalenol results in decreased phosphorylation of TNS1 protein	23811945
D003907	Dexamethasone	Dexamethasone results in increased expression of TNS1 mRNA	23946490
D003907	Dexamethasone	Valproic Acid inhibits the reaction [Dexamethasone results in increased expression of TNS1 mRNA]	23946490
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of TNS1 mRNA	17361019; 21266533;
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of TNS1 mRNA	21266533
D004041	Dietary Fats	Dietary Fats results in decreased expression of TNS1 mRNA	25016146
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of TNS1 mRNA	20920545
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of TNS1 mRNA	19638242
D004237	Diuron	Diuron results in decreased expression of TNS1 mRNA	25152437
D004237	Diuron	Diuron results in increased expression of TNS1 mRNA	21551480
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TNS1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of TNS1 mRNA	29803840
D004365	Drugs, Chinese Herbal	Drugs, Chinese Herbal results in increased expression of TNS1 mRNA	23811387
D004726	Endosulfan	Endosulfan results in decreased expression of TNS1 mRNA	29391264
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of TNS1 mRNA	30165855
D004958	Estradiol	Estradiol results in decreased expression of TNS1 mRNA	20106945; 21632981;
D004958	Estradiol	Estradiol inhibits the reaction [Lipopolysaccharides results in increased expression of TNS1 mRNA]	16977382
D000431	Ethanol	Ethanol results in increased expression of TNS1 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of TNS1 mRNA	17942748
C540355	fenamidone	fenamidone results in increased expression of TNS1 mRNA	27029645
C069837	fullerene C60	fullerene C60 results in increased expression of TNS1 mRNA	19167457
C010974	glyphosate	glyphosate results in increased methylation of TNS1 gene	31011160
D006534	Heptachlor Epoxide	Heptachlor Epoxide results in decreased expression of TNS1 mRNA	25270620
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of TNS1 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of TNS1 mRNA	24435446; 24796395; 26752646;
C008261	lead acetate	lead acetate results in decreased expression of TNS1 mRNA	25270620
D000077339	Leflunomide	Leflunomide results in increased expression of TNS1 mRNA	28988120
D008070	Lipopolysaccharides	Estradiol inhibits the reaction [Lipopolysaccharides results in increased expression of TNS1 mRNA]	16977382
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of TNS1 mRNA	16977382
D008694	Methamphetamine	Methamphetamine results in increased expression of TNS1 mRNA	26307267
D008701	Methapyrilene	Methapyrilene affects the methylation of TNS1 intron	30157460
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of TNS1 mRNA	23103053
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of TNS1 mRNA	23649840
C406082	monomethylarsonous acid	monomethylarsonous acid results in increased expression of TNS1 protein	24625837
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in increased expression of TNS1 mRNA	29244179
D037742	Nanotubes, Carbon	Nanotubes, Carbon affects the expression of TNS1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of TNS1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of TNS1 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of TNS1 mRNA	25620056
D009285	Naphthoquinones	Naphthoquinones results in increased expression of TNS1 mRNA	23811387
D009532	Nickel	Nickel results in decreased expression of TNS1 mRNA	25583101
C022838	nickel chloride	nickel chloride results in increased expression of TNS1 mRNA	21455298
C029938	nickel sulfate	nickel sulfate results in decreased expression of TNS1 mRNA	22714537
D009966	Orphenadrine	Orphenadrine affects the expression of TNS1 mRNA	23665939
D010100	Oxygen	Oxygen deficiency results in increased expression of TNS1 mRNA	26516004
D019308	Palmitic Acid	Palmitic Acid results in increased phosphorylation of TNS1 protein	28073184
C016030	pantogab	pantogab results in increased expression of TNS1 mRNA	17379144
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of TNS1 mRNA	23892564
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of TNS1 protein	26879310
D010634	Phenobarbital	Phenobarbital affects the expression of TNS1 mRNA	23091169
D010634	Phenobarbital	Phenobarbital results in decreased expression of TNS1 mRNA	25270620
D010634	Phenobarbital	Phenobarbital results in increased expression of TNS1 mRNA	19162173
D010795	Phthalic Acids	Phthalic Acids results in increased expression of TNS1 mRNA	21061450
C019536	potassium bromate	[potassium bromate co-treated with bisphenol A] affects the expression of TNS1 mRNA	27082013
C019536	potassium bromate	[XRCC6 gene mutant form results in increased susceptibility to potassium bromate] affects the reaction [[potassium bromate co-treated with bisphenol A] affects the expression of TNS1 mRNA]	27082013
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of TNS1 mRNA	22714537
D011374	Progesterone	Progesterone results in increased expression of TNS1 mRNA	20726854
C045950	propiconazole	propiconazole results in decreased expression of TNS1 mRNA	21278054
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of TNS1 mRNA	24780913
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of TNS1 mRNA	27029645
D011794	Quercetin	Quercetin results in decreased expression of TNS1 mRNA	21632981
D000077185	Resveratrol	Resveratrol results in increased expression of and affects the localization of TNS1 protein	15735708
D000077185	Resveratrol	Resveratrol results in increased expression of TNS1 mRNA	15735708
D000077154	Rosiglitazone	Rosiglitazone results in decreased expression of TNS1 mRNA	16982809
C009277	sodium arsenate	sodium arsenate results in increased expression of TNS1 mRNA	30953684
C016104	sodium bichromate	sodium bichromate results in decreased expression of TNS1 mRNA	17685462
D053260	Soot	Soot affects the expression of TNS1 mRNA	26551751
D000077210	Sunitinib	Sunitinib results in decreased expression of TNS1 mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of TNS1 mRNA	31299295
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of TNS1 mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of TNS1 mRNA	20702594
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of TNS1 mRNA	19770486; 25270620;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of TNS1 mRNA	21215274
C009495	titanium dioxide	titanium dioxide affects the expression of TNS1 mRNA	23557971
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of TNS1 mRNA	28065790
D014050	Toluene	Toluene results in increased expression of TNS1 mRNA	22967744
C012589	trichostatin A	trichostatin A results in increased expression of TNS1 mRNA	24935251
D014260	Triclosan	Triclosan results in increased expression of TNS1 mRNA	30510588
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of TNS1 mRNA	19042947
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TNS1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of TNS1 mRNA	29154799
D014635	Valproic Acid	Valproic Acid results in decreased methylation of TNS1 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of TNS1 mRNA	23179753; 24383497; 26272509;
D014635	Valproic Acid	Valproic Acid inhibits the reaction [Dexamethasone results in increased expression of TNS1 mRNA]	23946490
D014635	Valproic Acid	Valproic Acid affects the splicing of TNS1 mRNA	29427782
D014635	Valproic Acid	Valproic Acid results in decreased expression of TNS1 mRNA	29427782
D014640	Vancomycin	Vancomycin results in increased expression of TNS1 mRNA	18930951
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of TNS1 gene	25560391
C025643	vinclozolin	vinclozolin affects the expression of TNS1 mRNA	19015723
C025643	vinclozolin	vinclozolin results in decreased expression of TNS1 mRNA	23034163
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of TNS1 mRNA	26682919
D014810	Vitamin E	Vitamin E results in increased expression of TNS1 mRNA	19244175

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0009	Actin-binding
KW-0025	Alternative splicing
KW-0965	Cell junction
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0903	Direct protein sequencing
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0727	SH2 domain

Interpro

InterPro ID	InterPro Term
IPR011993	PH-like_dom_sf
IPR029021	Prot-tyrosine_phosphatase-like
IPR013625	PTB
IPR006020	PTB/PI_dom
IPR000980	SH2
IPR036860	SH2_dom_sf
IPR035012	Tensin-like_SH2
IPR014020	Tensin_C2-dom
IPR029023	Tensin_phosphatase
IPR033929	Tensin_PTB
IPR003595	Tyr_Pase_cat

PROSITE

PROSITE ID	PROSITE Term
PS51182	C2_TENSIN
PS51181	PPASE_TENSIN
PS50001	SH2

Pfam

Pfam ID	Pfam Term
PF08416	PTB
PF10409	PTEN_C2
PF00017	SH2

Gene: TNS1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction