CleftGeneDB-Search

Gene: DISP1

Basic information

Tag	Content
Uniprot ID	Q96F81; Q8N7C2; Q96I92; Q9H698; Q9H8H9; Q9UFA2;
Entrez ID	84976
Genbank protein ID	BAB15365.1; AAH07734.1; CAB61406.1; BAC05373.1; AAH11542.2; BAB14637.1;
Genbank nucleotide ID	NM_032890.3; XM_006711592.2; XM_011510072.2; XM_011510077.2; XM_017002611.1; XM_011510073.2; XM_011510074.2; XM_011510075.2; XM_005273335.2;
Ensembl protein ID	ENSP00000284476
Ensembl nucleotide ID	ENSG00000154309
Gene name	Protein dispatched homolog 1
Gene symbol	DISP1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Functions in hedgehog (Hh) signaling. Regulates the release and extracellular accumulation of cholesterol-modified hedgehog proteins and is hence required for effective production of the Hh signal (By similarity). Synergizes with SCUBE2 to cause an increase in SHH secretion (PubMed:22902404).
Sequence	MAMSNGNNDF VVLSNSSIAT SAANPSPLTP CDGDHAAQQL TPKEATRTKV SPNGCLQLNG 60 TVKSSFLPLD NQRMPQMLPQ CCHPCPYHHP LTSHSSHQEC HPEAGPAAPS ALASCCMQPH 120 SEYSASLCPN HSPVYQTTCC LQPSPSFCLH HPWPDHFQHQ PVQQHIANIR PSRPFKLPKS 180 YAALIADWPV VVLGMCTMFI VVCALVGVLV PELPDFSDPL LGFEPRGTAI GQRLVTWNNM 240 VKNTGYKATL ANYPFKYADE QAKSHRDDRW SDDHYEREKR EVDWNFHKDS FFCDVPSDRY 300 SRVVFTSSGG ETLWNLPAIK SMCNVDNSRI RSHPQFGDLC QRTTAASCCP SWTLGNYIAI 360 LNNRSSCQKI VERDVSHTLK LLRTCAKHYQ NGTLGPDCWD MAARRKDQLK CTNVPRKCTK 420 YNAVYQILHY LVDKDFMTPK TADYATPALK YSMLFSPTEK GESMMNIYLD NFENWNSSDG 480 VTTITGIEFG IKHSLFQDYL LMDTVYPAIA IVIVLLVMCV YTKSMFITLM TMFAIISSLI 540 VSYFLYRVVF HFEFFPFMNL TALIILVGIG ADDAFVLCDV WNYTKFDKPH AETSETVSIT 600 LQHAALSMFV TSFTTAAAFY ANYVSNITAI RCFGVYAGTA ILVNYVLMVT WLPAVVVLHE 660 RYLLNIFTCF KKPQQQIYDN KSCWTVACQK CHKVLFAISE ASRIFFEKVL PCIVIKFRYL 720 WLFWFLALTV GGAYIVCINP KMKLPSLELS EFQVFRSSHP FERYDAEYKK LFMFERVHHG 780 EELHMPITVI WGVSPEDNGN PLNPKSKGKL TLDSSFNIAS PASQAWILHF CQKLRNQTFF 840 YQTDEQDFTS CFIETFKQWM ENQDCDEPAL YPCCSHWSFP YKQEIFELCI KRAIMELERS 900 TGYHLDSKTP GPRFDINDTI RAVVLEFQST YLFTLAYEKM HQFYKEVDSW ISSELSSAPE 960 GLSNGWFVSN LEFYDLQDSL SDGTLIAMGL SVAVAFSVML LTTWNIIISL YAIISIAGTI 1020 FVTVGSLVLL GWELNVLESV TISVAVGLSV DFAVHYGVAY RLAPDPDREG KVIFSLSRVG 1080 SAMAMAALTT FVAGAMMMPS TVLAYTQLGT FMMLIMCISW AFATFFFQCM CRCLGPQGTC 1140 GQIPLPKKLQ CSAFSHALST SPSDKGQSKT HTINAYHLDP RGPKSELEHE FYELEPLASH 1200 SCTAPEKTTY EETHICSEFF NSQAKNLGMP VHAAYNSELS KSTESDAGSA LLQPPLEQHT 1260 VCHFFSLNQR CSCPDAYKHL NYGPHSCQQM GDCLCHQCSP TTSSFVQIQN GVAPLKATHQ 1320 AVEGFVHPIT HIHHCPCLQG RVKPAGMQNS LPRNFFLHPV QHIQAQEKIG KTNVHSLQRS 1380 IEEHLPKMAE PSSFVCRSTG SLLKTCCDPE NKQRELCKNR DVSNLESSGG TENKAGGKVE 1440 LSLSQTDASV NSEHFNQNEP KVLFNHLMGE AGCRSCPNNS QSCGRIVRVK CNSVDCQMPN 1500 MEANVPAVLT HSELSGESLL IKTL 1524

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	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	DISP1		A0A452EVU7			Capra hircus	Prediction	More>>
1:1 ortholog	DISP1	84976	Q96F81			Homo sapiens	Prediction	More>>
1:1 ortholog	Disp1	68897	Q3TDN0	CPO	E13.0, E14.5	Mus musculus	Publication	More>>
1:1 ortholog	DISP1	457761	A0A2I3SG78			Pan troglodytes	Prediction	More>>
1:1 ortholog	DISP1	100350276	G1SQY2			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Disp1	289338	D3ZWU2			Rattus norvegicus	Prediction	More>>
1:1 ortholog	disp1	619201	F1QHY7			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs369354573	p.Ala2Thr	missense variant	-	NC_000001.11:g.222942827G>A	ESP,ExAC,gnomAD
rs199657728	p.Met3Val	missense variant	-	NC_000001.11:g.222942830A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748317167	p.Met3Ile	missense variant	-	NC_000001.11:g.222942832G>C	ExAC,gnomAD
rs748317167	p.Met3Ile	missense variant	-	NC_000001.11:g.222942832G>A	ExAC,gnomAD
NCI-TCGA novel	p.Met3Ile	missense variant	-	NC_000001.11:g.222942832G>T	NCI-TCGA
rs1226758143	p.Ser4Asn	missense variant	-	NC_000001.11:g.222942834G>A	gnomAD
rs771974470	p.Ser4Arg	missense variant	-	NC_000001.11:g.222942835C>A	ExAC
rs773172344	p.Gly6Arg	missense variant	-	NC_000001.11:g.222942839G>A	ExAC,gnomAD
rs1264371062	p.Asn7Ser	missense variant	-	NC_000001.11:g.222942843A>G	TOPMed
rs760420710	p.Asn8Lys	missense variant	-	NC_000001.11:g.222942847T>G	ExAC,gnomAD
rs945991954	p.Asn8Ser	missense variant	-	NC_000001.11:g.222942846A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asp9Asn	missense variant	-	NC_000001.11:g.222942848G>A	NCI-TCGA
COSM904341	p.Asn15Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222942867A>G	NCI-TCGA Cosmic
rs1272203931	p.Ser16Ile	missense variant	-	NC_000001.11:g.222942870G>T	TOPMed
rs759111627	p.Ala19Glu	missense variant	-	NC_000001.11:g.222942879C>A	ExAC,gnomAD
rs776285881	p.Ala19Thr	missense variant	-	NC_000001.11:g.222942878G>A	ExAC,TOPMed,gnomAD
rs1166585916	p.Thr20Ile	missense variant	-	NC_000001.11:g.222942882C>T	gnomAD
rs765003653	p.Ser21Asn	missense variant	-	NC_000001.11:g.222942885G>A	ExAC,gnomAD
rs1404175058	p.Ala22Ser	missense variant	-	NC_000001.11:g.222942887G>T	gnomAD
rs1055612586	p.Ala23Thr	missense variant	-	NC_000001.11:g.222942890G>A	TOPMed
rs752139858	p.Asn24Ser	missense variant	-	NC_000001.11:g.222942894A>G	ExAC
rs149713388	p.Pro25Arg	missense variant	-	NC_000001.11:g.222942897C>G	ESP,ExAC,TOPMed,gnomAD
rs149713388	p.Pro25Leu	missense variant	-	NC_000001.11:g.222942897C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro25Ser	missense variant	-	NC_000001.11:g.222942896C>T	NCI-TCGA
NCI-TCGA novel	p.Ser26Gly	missense variant	-	NC_000001.11:g.222942899A>G	NCI-TCGA
rs756499874	p.Thr29Asn	missense variant	-	NC_000001.11:g.222942909C>A	ExAC,TOPMed,gnomAD
rs756499874	p.Thr29Ile	missense variant	-	NC_000001.11:g.222942909C>T	ExAC,TOPMed,gnomAD
rs780297875	p.Pro30His	missense variant	-	NC_000001.11:g.222942912C>A	ExAC,TOPMed
rs780297875	p.Pro30Arg	missense variant	-	NC_000001.11:g.222942912C>G	ExAC,TOPMed
RCV000486495	p.Pro30Leu	missense variant	-	NC_000001.11:g.222942912C>T	ClinVar
rs780297875	p.Pro30Leu	missense variant	-	NC_000001.11:g.222942912C>T	ExAC,TOPMed
rs1408251074	p.Cys31Ser	missense variant	-	NC_000001.11:g.222942915G>C	gnomAD
NCI-TCGA novel	p.Cys31LeuPheSerTerUnk	frameshift	-	NC_000001.11:g.222942908_222942909insC	NCI-TCGA
rs1182357031	p.Asp32Glu	missense variant	-	NC_000001.11:g.222942919T>A	TOPMed
rs1267517015	p.Asp32Gly	missense variant	-	NC_000001.11:g.222942918A>G	TOPMed
rs779245155	p.Gly33Arg	missense variant	-	NC_000001.11:g.222942920G>A	ExAC,gnomAD
COSM4837388	p.Asp34Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222942923G>A	NCI-TCGA Cosmic
rs1039246234	p.Ala36Val	missense variant	-	NC_000001.11:g.222942930C>T	TOPMed,gnomAD
rs772168488	p.Ala36Thr	missense variant	-	NC_000001.11:g.222942929G>A	ExAC,gnomAD
rs746958106	p.Gln39His	missense variant	-	NC_000001.11:g.222942940G>C	ExAC,gnomAD
rs1250829264	p.Leu40Pro	missense variant	-	NC_000001.11:g.222942942T>C	gnomAD
rs770641865	p.Glu44Asp	missense variant	-	NC_000001.11:g.222942955A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu44Lys	missense variant	-	NC_000001.11:g.222942953G>A	NCI-TCGA
NCI-TCGA novel	p.Glu44Gln	missense variant	-	NC_000001.11:g.222942953G>C	NCI-TCGA
rs776280819	p.Thr46Ala	missense variant	-	NC_000001.11:g.222942959A>G	ExAC,TOPMed,gnomAD
rs759438331	p.Thr48Ala	missense variant	-	NC_000001.11:g.222942965A>G	ExAC,gnomAD
rs372895287	p.Pro52Leu	missense variant	-	NC_000001.11:g.222942978C>T	ESP,ExAC,gnomAD
rs372895287	p.Pro52Gln	missense variant	-	NC_000001.11:g.222942978C>A	ESP,ExAC,gnomAD
COSM3789517	p.Pro52Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222942977C>T	NCI-TCGA Cosmic
COSM2149709	p.Gly54Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222942984G>A	NCI-TCGA Cosmic
rs775251089	p.Cys55Ser	missense variant	-	NC_000001.11:g.222942986T>A	ExAC,TOPMed
rs762515193	p.Cys55Tyr	missense variant	-	NC_000001.11:g.222942987G>A	ExAC,TOPMed,gnomAD
rs1289067400	p.Leu58His	missense variant	-	NC_000001.11:g.222942996T>A	TOPMed
COSM4837605	p.Asn59Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222942999A>G	NCI-TCGA Cosmic
rs201903516	p.Gly60Val	missense variant	-	NC_000001.11:g.222943002G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146408462	p.Thr61Met	missense variant	-	NC_000001.11:g.222943005C>T	ESP,ExAC,TOPMed,gnomAD
rs146408462	p.Thr61Arg	missense variant	-	NC_000001.11:g.222943005C>G	ESP,ExAC,TOPMed,gnomAD
rs1234026222	p.Asp70Gly	missense variant	-	NC_000001.11:g.222943032A>G	gnomAD
rs914824165	p.Asn71Ser	missense variant	-	NC_000001.11:g.222943035A>G	TOPMed
rs755409410	p.Gln72Lys	missense variant	-	NC_000001.11:g.222943037C>A	ExAC,TOPMed
COSM3804012	p.Gln76Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222943049C>G	NCI-TCGA Cosmic
rs1282532859	p.Gln76Pro	missense variant	-	NC_000001.11:g.222943050A>C	gnomAD
NCI-TCGA novel	p.Gln76His	missense variant	-	NC_000001.11:g.222943051G>C	NCI-TCGA
rs575300297	p.Met77Ile	missense variant	-	NC_000001.11:g.222943054G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs752936308	p.Met77Leu	missense variant	-	NC_000001.11:g.222943052A>C	ExAC,TOPMed,gnomAD
rs1273739150	p.Leu78Ter	stop gained	-	NC_000001.11:g.222943056T>A	gnomAD
rs1339885456	p.Cys81Gly	missense variant	-	NC_000001.11:g.222943064T>G	gnomAD
rs777831995	p.Cys85Tyr	missense variant	-	NC_000001.11:g.222943077G>A	ExAC,TOPMed,gnomAD
rs747155948	p.Tyr87Ser	missense variant	-	NC_000001.11:g.222943083A>C	ExAC
rs1184905383	p.His88Arg	missense variant	-	NC_000001.11:g.222943086A>G	gnomAD
rs781243506	p.His89Pro	missense variant	-	NC_000001.11:g.222943089A>C	ExAC,gnomAD
rs1189853604	p.Pro90Arg	missense variant	-	NC_000001.11:g.222943092C>G	TOPMed,gnomAD
rs141066173	p.Thr92Ser	missense variant	-	NC_000001.11:g.222943098C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141066173	p.Thr92Ile	missense variant	-	NC_000001.11:g.222943098C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1390087135	p.Thr92Pro	missense variant	-	NC_000001.11:g.222943097A>C	gnomAD
rs1198589516	p.Ser93Asn	missense variant	-	NC_000001.11:g.222943101G>A	TOPMed
rs370793131	p.His94Arg	missense variant	-	NC_000001.11:g.222943104A>G	ESP,ExAC,TOPMed,gnomAD
rs774959288	p.His94Tyr	missense variant	-	NC_000001.11:g.222943103C>T	ExAC,gnomAD
rs181998645	p.Ser96Thr	missense variant	-	NC_000001.11:g.222943110G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs759715045	p.His97Gln	missense variant	-	NC_000001.11:g.222943114C>A	gnomAD
rs1435894311	p.Gln98Arg	missense variant	-	NC_000001.11:g.222943116A>G	gnomAD
COSM4856500	p.Cys100Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222943121T>C	NCI-TCGA Cosmic
rs2789975	p.Glu103Asp	missense variant	-	NC_000001.11:g.222943132G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2609383	p.Glu103Lys	missense variant	-	NC_000001.11:g.222943130G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000755508	p.Glu103Lys	missense variant	-	NC_000001.11:g.222943130G>A	ClinVar
RCV000244588	p.Glu103Asp	missense variant	-	NC_000001.11:g.222943132G>T	ClinVar
RCV000755507	p.Glu103Asp	missense variant	-	NC_000001.11:g.222943132G>T	ClinVar
RCV000251551	p.Glu103Lys	missense variant	-	NC_000001.11:g.222943130G>A	ClinVar
rs759769595	p.Ala104Thr	missense variant	-	NC_000001.11:g.222943133G>A	ExAC,gnomAD
rs1030829165	p.Pro106Ser	missense variant	-	NC_000001.11:g.222943139C>T	-
rs1477192306	p.Ala108Val	missense variant	-	NC_000001.11:g.222943146C>T	TOPMed,gnomAD
rs1235194863	p.Leu112Val	missense variant	-	NC_000001.11:g.222943157T>G	gnomAD
rs765644354	p.Ser114Leu	missense variant	-	NC_000001.11:g.222943164C>T	ExAC,TOPMed,gnomAD
rs561632585	p.Cys116Ser	missense variant	-	NC_000001.11:g.222943170G>C	1000Genomes,ExAC,gnomAD
rs139988084	p.Met117Val	missense variant	-	NC_000001.11:g.222943172A>G	ESP,ExAC,TOPMed,gnomAD
rs1448240267	p.Met117Ile	missense variant	-	NC_000001.11:g.222943174G>A	gnomAD
rs1247998622	p.Met117Thr	missense variant	-	NC_000001.11:g.222943173T>C	TOPMed,gnomAD
rs1409103350	p.Gln118Arg	missense variant	-	NC_000001.11:g.222943176A>G	TOPMed
rs757403085	p.Ser121Pro	missense variant	-	NC_000001.11:g.222943184T>C	ExAC,gnomAD
rs199996623	p.Glu122Lys	missense variant	-	NC_000001.11:g.222943187G>A	ExAC,TOPMed,gnomAD
rs1391084086	p.Tyr123Cys	missense variant	-	NC_000001.11:g.222943191A>G	TOPMed,gnomAD
rs780002500	p.Ala125Thr	missense variant	-	NC_000001.11:g.222943196G>A	ExAC,gnomAD
rs749163609	p.Ser126Cys	missense variant	-	NC_000001.11:g.222943200C>G	ExAC,gnomAD
rs768411152	p.Leu127Pro	missense variant	-	NC_000001.11:g.222943203T>C	ExAC,gnomAD
rs774186525	p.Pro129Leu	missense variant	-	NC_000001.11:g.222943209C>T	ExAC,gnomAD
rs1330371769	p.Pro129Ser	missense variant	-	NC_000001.11:g.222943208C>T	gnomAD
rs764268729	p.His131Tyr	missense variant	-	NC_000001.11:g.222943214C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser132CysPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.222943217_222943218insGTTTCCATTG	NCI-TCGA
COSM3484020	p.Pro133Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222943220C>T	NCI-TCGA Cosmic
rs747621587	p.Thr137Pro	missense variant	-	NC_000001.11:g.222943232A>C	ExAC,gnomAD
rs747621587	p.Thr137Ala	missense variant	-	NC_000001.11:g.222943232A>G	ExAC,gnomAD
rs771632180	p.Thr138Ala	missense variant	-	NC_000001.11:g.222943235A>G	ExAC,gnomAD
rs375843368	p.Thr138Lys	missense variant	-	NC_000001.11:g.222943236C>A	ESP,ExAC,TOPMed,gnomAD
rs375843368	p.Thr138Met	missense variant	-	NC_000001.11:g.222943236C>T	ESP,ExAC,TOPMed,gnomAD
rs770735865	p.Cys140Tyr	missense variant	-	NC_000001.11:g.222943242G>A	ExAC,gnomAD
rs764273909	p.Gln142Arg	missense variant	-	NC_000001.11:g.222943248A>G	ExAC,gnomAD
rs764273909	p.Gln142Leu	missense variant	-	NC_000001.11:g.222943248A>T	ExAC,gnomAD
rs1339802723	p.Pro143Ala	missense variant	-	NC_000001.11:g.222943250C>G	gnomAD
rs751815306	p.Pro145Ser	missense variant	-	NC_000001.11:g.222943256C>T	ExAC,gnomAD
rs1415464768	p.Pro145Gln	missense variant	-	NC_000001.11:g.222943257C>A	gnomAD
rs1283635640	p.Ser146Cys	missense variant	-	NC_000001.11:g.222943260C>G	TOPMed
NCI-TCGA novel	p.Ser146IlePheSerTerUnkUnk	frameshift	-	NC_000001.11:g.222943258_222943259insAT	NCI-TCGA
NCI-TCGA novel	p.Ser146Phe	missense variant	-	NC_000001.11:g.222943260C>T	NCI-TCGA
NCI-TCGA novel	p.Ser146IlePheSerTerUnk	stop gained	-	NC_000001.11:g.222943258_222943259insATTTCTTGACTCTAAG	NCI-TCGA
rs568941661	p.Phe147Leu	missense variant	-	NC_000001.11:g.222943262T>C	1000Genomes,ExAC,gnomAD
rs1414515828	p.Cys148Tyr	missense variant	-	NC_000001.11:g.222943266G>A	gnomAD
rs1158642729	p.His151Arg	missense variant	-	NC_000001.11:g.222943275A>G	TOPMed,gnomAD
rs148843202	p.Pro152Leu	missense variant	-	NC_000001.11:g.222943278C>T	ESP,gnomAD
NCI-TCGA novel	p.Asp155His	missense variant	-	NC_000001.11:g.222943286G>C	NCI-TCGA
rs750263285	p.His156Asp	missense variant	-	NC_000001.11:g.222943289C>G	ExAC,gnomAD
rs780198794	p.Gln158His	missense variant	-	NC_000001.11:g.222943297G>C	ExAC,gnomAD
rs374752363	p.Gln158Ter	stop gained	-	NC_000001.11:g.222943295C>T	ESP,ExAC,gnomAD
rs749070743	p.His159Gln	missense variant	-	NC_000001.11:g.222943300T>A	ExAC,gnomAD
rs1282585216	p.His159Tyr	missense variant	-	NC_000001.11:g.222943298C>T	TOPMed
rs142527280	p.Gln160Arg	missense variant	-	NC_000001.11:g.222943302A>G	ESP,ExAC,gnomAD
rs778660148	p.Gln160His	missense variant	-	NC_000001.11:g.222943303G>T	ExAC,TOPMed,gnomAD
rs1227920864	p.Val162Gly	missense variant	-	NC_000001.11:g.222943308T>G	gnomAD
rs747848425	p.Gln163Arg	missense variant	-	NC_000001.11:g.222943311A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln164Lys	missense variant	-	NC_000001.11:g.222943313C>A	NCI-TCGA
rs777330970	p.Ala167Thr	missense variant	-	NC_000001.11:g.222943322G>A	ExAC,TOPMed,gnomAD
rs746554264	p.Asn168Ser	missense variant	-	NC_000001.11:g.222943326A>G	ExAC,gnomAD
COSM904343	p.Asn168Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222943325A>G	NCI-TCGA Cosmic
rs1433486331	p.Pro171Ser	missense variant	-	NC_000001.11:g.222983081C>T	gnomAD
rs1426746846	p.Ser172Phe	missense variant	-	NC_000001.11:g.222983085C>T	gnomAD
rs1486445650	p.Pro174Ser	missense variant	-	NC_000001.11:g.222983090C>T	TOPMed
rs548262612	p.Lys176Thr	missense variant	-	NC_000001.11:g.222983097A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs548262612	p.Lys176Arg	missense variant	-	NC_000001.11:g.222983097A>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM3484022	p.Ser180Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222983109G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser180ValPheSerTerUnk	frameshift	-	NC_000001.11:g.222983104A>-	NCI-TCGA
RCV000489132	p.Tyr181Ter	nonsense	-	NC_000001.11:g.222990628T>G	ClinVar
rs1159371502	p.Tyr181Ter	stop gained	-	NC_000001.11:g.222990627dup	gnomAD
rs1085307664	p.Tyr181Ter	stop gained	-	NC_000001.11:g.222990628T>G	-
rs1410595435	p.Ala183Gly	missense variant	-	NC_000001.11:g.222990633C>G	gnomAD
rs1398450264	p.Ile185Thr	missense variant	-	NC_000001.11:g.222990639T>C	TOPMed,gnomAD
rs1398450264	p.Ile185Lys	missense variant	-	NC_000001.11:g.222990639T>A	TOPMed,gnomAD
rs758163679	p.Asp187Asn	missense variant	-	NC_000001.11:g.222990644G>A	ExAC,gnomAD
RCV000508451	p.Asp187Asn	missense variant	-	NC_000001.11:g.222990644G>A	ClinVar
rs200321673	p.Pro189Leu	missense variant	-	NC_000001.11:g.222990651C>T	ESP,ExAC,TOPMed,gnomAD
rs780687540	p.Met195Val	missense variant	-	NC_000001.11:g.222990668A>G	ExAC,TOPMed,gnomAD
rs141893648	p.Met198Val	missense variant	-	NC_000001.11:g.222990677A>G	ESP,ExAC,gnomAD
rs1222122275	p.Met198Thr	missense variant	-	NC_000001.11:g.222990678T>C	gnomAD
rs779338301	p.Phe199Leu	missense variant	-	NC_000001.11:g.222990682C>G	ExAC,TOPMed,gnomAD
rs763882525	p.Ile200Val	missense variant	-	NC_000001.11:g.222990683A>G	TOPMed,gnomAD
rs763882525	p.Ile200Leu	missense variant	-	NC_000001.11:g.222990683A>C	TOPMed,gnomAD
rs772344845	p.Val201Ile	missense variant	-	NC_000001.11:g.222990686G>A	ExAC,TOPMed,gnomAD
rs747237302	p.Val206Gly	missense variant	-	NC_000001.11:g.222990702T>G	ExAC,TOPMed,gnomAD
rs771344437	p.Gly207Arg	missense variant	-	NC_000001.11:g.222990704G>C	ExAC,gnomAD
rs771344437	p.Gly207Arg	missense variant	-	NC_000001.11:g.222990704G>A	ExAC,gnomAD
rs776835126	p.Gly207Glu	missense variant	-	NC_000001.11:g.222990705G>A	ExAC,gnomAD
RCV000489127	p.Gly207Arg	missense variant	-	NC_000001.11:g.222990704G>C	ClinVar
rs1036833872	p.Val208Ile	missense variant	-	NC_000001.11:g.222990707G>A	TOPMed
rs765185865	p.Pro211Ser	missense variant	-	NC_000001.11:g.222990716C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu212Lys	missense variant	-	NC_000001.11:g.222990719G>A	NCI-TCGA
rs200769559	p.Asp215Val	missense variant	-	NC_000001.11:g.222990729A>T	1000Genomes,ExAC,gnomAD
rs763811112	p.Asp215Glu	missense variant	-	NC_000001.11:g.222990730C>A	ExAC,gnomAD
NCI-TCGA novel	p.Phe216Leu	missense variant	-	NC_000001.11:g.222990733C>A	NCI-TCGA
rs1351765998	p.Ser217Cys	missense variant	-	NC_000001.11:g.222990735C>G	TOPMed
NCI-TCGA novel	p.Asp218Asn	missense variant	-	NC_000001.11:g.222990737G>A	NCI-TCGA
NCI-TCGA novel	p.Pro219Leu	missense variant	-	NC_000001.11:g.222990741C>T	NCI-TCGA
NCI-TCGA novel	p.Leu221Pro	missense variant	-	NC_000001.11:g.222990747T>C	NCI-TCGA
rs1451766512	p.Pro225Ala	missense variant	-	NC_000001.11:g.222991529C>G	gnomAD
rs1169659747	p.Gly227Val	missense variant	-	NC_000001.11:g.222991536G>T	gnomAD
rs1396165528	p.Thr228Ile	missense variant	-	NC_000001.11:g.222991539C>T	gnomAD
NCI-TCGA novel	p.Thr228Ala	missense variant	-	NC_000001.11:g.222991538A>G	NCI-TCGA
rs1253829916	p.Ala229Glu	missense variant	-	NC_000001.11:g.222991542C>A	TOPMed
rs369774406	p.Ala229Thr	missense variant	-	NC_000001.11:g.222991541G>A	ESP,ExAC,TOPMed,gnomAD
rs769789077	p.Gly231Ser	missense variant	-	NC_000001.11:g.222991547G>A	ExAC,TOPMed,gnomAD
rs775443445	p.Gly231Asp	missense variant	-	NC_000001.11:g.222991548G>A	ExAC,gnomAD
rs1367226938	p.Leu234Phe	missense variant	-	NC_000001.11:g.222991558G>T	TOPMed,gnomAD
rs1228999071	p.Val235Ile	missense variant	-	NC_000001.11:g.222991559G>A	TOPMed,gnomAD
rs935748101	p.Thr236Ile	missense variant	-	NC_000001.11:g.222991563C>T	TOPMed,gnomAD
rs1436275589	p.Met240Ile	missense variant	-	NC_000001.11:g.222991576G>A	TOPMed
rs1278885073	p.Met240Thr	missense variant	-	NC_000001.11:g.222991575T>C	TOPMed,gnomAD
rs1278885073	p.Met240Lys	missense variant	-	NC_000001.11:g.222991575T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asn243IlePheSerTerUnk	frameshift	-	NC_000001.11:g.222991580A>-	NCI-TCGA
rs1201205544	p.Gly245Glu	missense variant	-	NC_000001.11:g.222991590G>A	gnomAD
rs146011091	p.Tyr246His	missense variant	-	NC_000001.11:g.222991592T>C	ESP,TOPMed
rs139954139	p.Lys247Glu	missense variant	-	NC_000001.11:g.222991595A>G	ESP,ExAC,TOPMed,gnomAD
rs767128370	p.Lys247Asn	missense variant	-	NC_000001.11:g.222991597A>C	ExAC,gnomAD
RCV000453630	p.Ala248Val	missense variant	Holoprosencephaly sequence (HPE)	NC_000001.11:g.222991599C>T	ClinVar
rs1029577112	p.Ala248Val	missense variant	-	NC_000001.11:g.222991599C>T	TOPMed,gnomAD
rs1372873913	p.Ala251Val	missense variant	-	NC_000001.11:g.222991608C>T	gnomAD
rs1174595140	p.Asn252Ser	missense variant	-	NC_000001.11:g.222991611A>G	gnomAD
rs1474630324	p.Asn252Tyr	missense variant	-	NC_000001.11:g.222991610A>T	gnomAD
rs1426111882	p.Pro254Thr	missense variant	-	NC_000001.11:g.222991616C>A	gnomAD
NCI-TCGA novel	p.Pro254Ser	missense variant	-	NC_000001.11:g.222991616C>T	NCI-TCGA
rs1390859742	p.Phe255Leu	missense variant	-	NC_000001.11:g.222991621T>G	gnomAD
rs750108742	p.Phe255Val	missense variant	-	NC_000001.11:g.222991619T>G	ExAC,gnomAD
rs1334823448	p.Phe255Ser	missense variant	-	NC_000001.11:g.222991620T>C	gnomAD
rs1435740025	p.Lys256Glu	missense variant	-	NC_000001.11:g.222991622A>G	TOPMed,gnomAD
rs1163271120	p.Ala258Val	missense variant	-	NC_000001.11:g.222991629C>T	TOPMed
rs765810079	p.Gln261Lys	missense variant	-	NC_000001.11:g.222991637C>A	ExAC,gnomAD
rs753454767	p.Lys263Glu	missense variant	-	NC_000001.11:g.222991643A>G	ExAC,gnomAD
rs760238254	p.Ser264Arg	missense variant	-	NC_000001.11:g.222992013C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser264AlaPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.222991643A>-	NCI-TCGA
rs577346199	p.His265Arg	missense variant	-	NC_000001.11:g.222992015A>G	1000Genomes,ExAC,gnomAD
rs753264273	p.Arg266Trp	missense variant	-	NC_000001.11:g.222992017C>T	ExAC,TOPMed,gnomAD
rs760606200	p.Arg266Gln	missense variant	-	NC_000001.11:g.222992018G>A	TOPMed,gnomAD
rs753264273	p.Arg266Gly	missense variant	-	NC_000001.11:g.222992017C>G	ExAC,TOPMed,gnomAD
rs764652585	p.Asp267His	missense variant	-	NC_000001.11:g.222992020G>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp267Gly	missense variant	-	NC_000001.11:g.222992021A>G	NCI-TCGA
rs1254227365	p.Arg269Gly	missense variant	-	NC_000001.11:g.222992026A>G	gnomAD
COSM904345	p.Trp270Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.222992031G>A	NCI-TCGA Cosmic
rs752131351	p.Asp272His	missense variant	-	NC_000001.11:g.222992035G>C	ExAC,TOPMed,gnomAD
rs757641681	p.Tyr275Cys	missense variant	-	NC_000001.11:g.222992045A>G	ExAC,gnomAD
rs1484195978	p.Arg277Ter	stop gained	-	NC_000001.11:g.222992050A>T	TOPMed
COSM3484024	p.Lys279Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222992057A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu281Ter	stop gained	-	NC_000001.11:g.222992062G>T	NCI-TCGA
rs764160721	p.Val282Phe	missense variant	-	NC_000001.11:g.222992065G>T	ExAC,TOPMed,gnomAD
rs1218007215	p.Trp284Ter	stop gained	-	NC_000001.11:g.222992072G>A	TOPMed
rs79910153	p.Trp284Ter	stop gained	-	NC_000001.11:g.222992073G>A	-
rs1281122889	p.Trp284Arg	missense variant	-	NC_000001.11:g.222992071T>C	TOPMed
rs753705345	p.Asn285Ser	missense variant	-	NC_000001.11:g.222992075A>G	ExAC,gnomAD
rs749297185	p.Phe286Leu	missense variant	-	NC_000001.11:g.222992077T>C	ExAC,TOPMed,gnomAD
rs369007028	p.His287Leu	missense variant	-	NC_000001.11:g.222992081A>T	ESP,ExAC,gnomAD
rs778775128	p.His287Tyr	missense variant	-	NC_000001.11:g.222992080C>T	ExAC,gnomAD
rs1282096561	p.His287Gln	missense variant	-	NC_000001.11:g.222992082C>G	TOPMed
rs772977935	p.Phe291Cys	missense variant	-	NC_000001.11:g.222992093T>G	ExAC,gnomAD
rs760566329	p.Phe292Ser	missense variant	-	NC_000001.11:g.222992096T>C	ExAC,gnomAD
rs760566329	p.Phe292Cys	missense variant	-	NC_000001.11:g.222992096T>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe292Leu	missense variant	-	NC_000001.11:g.222992097C>A	NCI-TCGA
rs770456061	p.Cys293Tyr	missense variant	-	NC_000001.11:g.222992099G>A	ExAC,gnomAD
rs764850811	p.Asp294Gly	missense variant	-	NC_000001.11:g.222992102A>G	ExAC,gnomAD
rs758918841	p.Asp294Asn	missense variant	-	NC_000001.11:g.222992101G>A	ExAC,gnomAD
rs762408805	p.Val295Ile	missense variant	-	NC_000001.11:g.222992104G>A	ExAC,TOPMed,gnomAD
rs768200763	p.Pro296Leu	missense variant	-	NC_000001.11:g.222992108C>T	ExAC,gnomAD
rs1170292930	p.Ser297Gly	missense variant	-	NC_000001.11:g.222992110A>G	gnomAD
rs1457890558	p.Asp298Gly	missense variant	-	NC_000001.11:g.222994888A>G	TOPMed
rs766781897	p.Arg299Pro	missense variant	-	NC_000001.11:g.222994891G>C	ExAC,TOPMed,gnomAD
rs766781897	p.Arg299Gln	missense variant	-	NC_000001.11:g.222994891G>A	ExAC,TOPMed,gnomAD
rs773799838	p.Arg299Ter	stop gained	-	NC_000001.11:g.222994890C>T	ExAC,TOPMed,gnomAD
rs773799838	p.Arg299Gly	missense variant	-	NC_000001.11:g.222994890C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg302Thr	missense variant	-	NC_000001.11:g.222994900G>C	NCI-TCGA
COSM1339100	p.Val304Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222994906T>C	NCI-TCGA Cosmic
rs955815340	p.Thr306Ser	missense variant	-	NC_000001.11:g.222994912C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ser307Leu	missense variant	-	NC_000001.11:g.222994915C>T	NCI-TCGA
rs755178594	p.Leu313Phe	missense variant	-	NC_000001.11:g.222994934A>T	ExAC,gnomAD
rs758500459	p.Pro317Thr	missense variant	-	NC_000001.11:g.222994944C>A	ExAC,gnomAD
rs758500459	p.Pro317Ser	missense variant	-	NC_000001.11:g.222994944C>T	ExAC,gnomAD
rs777517958	p.Met322Val	missense variant	-	NC_000001.11:g.222994959A>G	ExAC,gnomAD
rs1175183017	p.Cys323Gly	missense variant	-	NC_000001.11:g.222994962T>G	gnomAD
rs540049936	p.Asn324His	missense variant	-	NC_000001.11:g.222994965A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs540049936	p.Asn324Asp	missense variant	-	NC_000001.11:g.222994965A>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM679441	p.Val325Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.222994968G>T	NCI-TCGA Cosmic
rs1458347268	p.Asp326Gly	missense variant	-	NC_000001.11:g.222994972A>G	gnomAD
rs1269272967	p.Asp326Asn	missense variant	-	NC_000001.11:g.222994971G>A	TOPMed
rs1371266753	p.Gln335Pro	missense variant	-	NC_000001.11:g.223002401A>C	TOPMed
rs1320817660	p.Gln335His	missense variant	-	NC_000001.11:g.223002402G>C	gnomAD
rs759932402	p.Gly337Cys	missense variant	-	NC_000001.11:g.223002406G>T	ExAC,gnomAD
rs765403381	p.Gly337Asp	missense variant	-	NC_000001.11:g.223002407G>A	ExAC,gnomAD
rs149888817	p.Leu339Phe	missense variant	-	NC_000001.11:g.223002412C>T	ESP,ExAC,TOPMed,gnomAD
rs748593109	p.Gln341Arg	missense variant	-	NC_000001.11:g.223002419A>G	TOPMed
rs762959270	p.Thr344Ser	missense variant	-	NC_000001.11:g.223002428C>G	ExAC,gnomAD
rs1397576166	p.Ala345Thr	missense variant	-	NC_000001.11:g.223002430G>A	TOPMed,gnomAD
rs751654884	p.Pro350Ser	missense variant	-	NC_000001.11:g.223002445C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser351Ile	missense variant	-	NC_000001.11:g.223002449G>T	NCI-TCGA
rs1221422074	p.Trp352Arg	missense variant	-	NC_000001.11:g.223002451T>A	gnomAD
rs1469550559	p.Gly355Ala	missense variant	-	NC_000001.11:g.223002461G>C	TOPMed
rs1204713115	p.Asn356Ser	missense variant	-	NC_000001.11:g.223002464A>G	gnomAD
rs756004316	p.Tyr357Cys	missense variant	-	NC_000001.11:g.223002467A>G	ExAC,TOPMed,gnomAD
rs770022569	p.Ile358Met	missense variant	-	NC_000001.11:g.223002471C>G	ExAC,TOPMed,gnomAD
rs779804618	p.Ile358Val	missense variant	-	NC_000001.11:g.223002469A>G	ExAC,TOPMed,gnomAD
rs771437708	p.Ala359Asp	missense variant	-	NC_000001.11:g.223002473C>A	ExAC,TOPMed,gnomAD
rs747659889	p.Ala359Thr	missense variant	-	NC_000001.11:g.223002472G>A	NCI-TCGA,NCI-TCGA Cosmic
rs747659889	p.Ala359Thr	missense variant	-	NC_000001.11:g.223002472G>A	ExAC,TOPMed,gnomAD
rs771437708	p.Ala359Val	missense variant	-	NC_000001.11:g.223002473C>T	ExAC,TOPMed,gnomAD
rs777035784	p.Ile360Val	missense variant	-	NC_000001.11:g.223002475A>G	ExAC,gnomAD
rs144807113	p.Leu361Val	missense variant	-	NC_000001.11:g.223002478C>G	ESP,ExAC,TOPMed,gnomAD
rs1354070393	p.Asn362Lys	missense variant	-	NC_000001.11:g.223002483C>G	gnomAD
rs1268763720	p.Asn362Tyr	missense variant	-	NC_000001.11:g.223002481A>T	TOPMed
rs1354070393	p.Asn362Lys	missense variant	-	NC_000001.11:g.223002483C>A	gnomAD
RCV000223857	p.Asn363Asp	missense variant	-	NC_000001.11:g.223002484A>G	ClinVar
rs876661336	p.Asn363Asp	missense variant	-	NC_000001.11:g.223002484A>G	-
NCI-TCGA novel	p.Arg364Ile	missense variant	-	NC_000001.11:g.223002488G>T	NCI-TCGA
rs148999147	p.Ser365Leu	missense variant	-	NC_000001.11:g.223002491C>T	ESP,ExAC,TOPMed,gnomAD
rs148999147	p.Ser365Trp	missense variant	-	NC_000001.11:g.223002491C>G	ESP,ExAC,TOPMed,gnomAD
rs1383483613	p.Ser366Phe	missense variant	-	NC_000001.11:g.223002494C>T	gnomAD
rs374091854	p.Cys367Tyr	missense variant	-	NC_000001.11:g.223002497G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys367Arg	missense variant	-	NC_000001.11:g.223002496T>C	NCI-TCGA
rs111547845	p.Ile370Met	missense variant	-	NC_000001.11:g.223002507A>G	gnomAD
rs1312667624	p.Ile370Thr	missense variant	-	NC_000001.11:g.223002506T>C	gnomAD
rs377667175	p.Arg373Ter	stop gained	-	NC_000001.11:g.223002514C>T	ESP,ExAC,TOPMed,gnomAD
rs767452749	p.Arg373Gln	missense variant	-	NC_000001.11:g.223002515G>A	ExAC,TOPMed,gnomAD
rs377667175	p.Arg373Gly	missense variant	-	NC_000001.11:g.223002514C>G	ESP,ExAC,TOPMed,gnomAD
rs755916120	p.Val375Ile	missense variant	-	NC_000001.11:g.223002520G>A	ExAC,TOPMed,gnomAD
rs755916120	p.Val375Ile	missense variant	-	NC_000001.11:g.223002520G>A	NCI-TCGA
rs1452239200	p.His377Leu	missense variant	-	NC_000001.11:g.223002527A>T	TOPMed
rs1452239200	p.His377Arg	missense variant	-	NC_000001.11:g.223002527A>G	TOPMed
rs780000783	p.His377Tyr	missense variant	-	NC_000001.11:g.223002526C>T	ExAC,gnomAD
rs754635457	p.Lys380Arg	missense variant	-	NC_000001.11:g.223002536A>G	ExAC,TOPMed,gnomAD
rs567212527	p.Arg383Leu	missense variant	-	NC_000001.11:g.223002545G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs371163462	p.Arg383Trp	missense variant	-	NC_000001.11:g.223002544C>T	ESP,ExAC,TOPMed,gnomAD
rs567212527	p.Arg383Gln	missense variant	-	NC_000001.11:g.223002545G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1168762958	p.Thr384Ala	missense variant	-	NC_000001.11:g.223002547A>G	gnomAD
rs146869710	p.Cys385Tyr	missense variant	-	NC_000001.11:g.223002551G>A	1000Genomes,ExAC,gnomAD
rs770349473	p.Lys387Thr	missense variant	-	NC_000001.11:g.223002557A>C	ExAC,TOPMed,gnomAD
rs1206623123	p.Gln390Arg	missense variant	-	NC_000001.11:g.223002566A>G	TOPMed
rs140829703	p.Thr393Asn	missense variant	-	NC_000001.11:g.223002575C>A	1000Genomes,ESP,ExAC,gnomAD
rs749704141	p.Thr393Pro	missense variant	-	NC_000001.11:g.223002574A>C	ExAC,gnomAD
rs140829703	p.Thr393Ile	missense variant	-	NC_000001.11:g.223002575C>T	1000Genomes,ESP,ExAC,gnomAD
rs978886358	p.Gly395Glu	missense variant	-	NC_000001.11:g.223002581G>A	TOPMed
rs1220549927	p.Asp397Glu	missense variant	-	NC_000001.11:g.223002588C>G	gnomAD
rs1263234971	p.Cys398Phe	missense variant	-	NC_000001.11:g.223002590G>T	gnomAD
NCI-TCGA novel	p.Cys398Ser	missense variant	-	NC_000001.11:g.223002590G>C	NCI-TCGA
rs538321379	p.Asp400Asn	missense variant	-	NC_000001.11:g.223002595G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs773217795	p.Ala403Thr	missense variant	-	NC_000001.11:g.223002604G>A	ExAC,gnomAD
rs760687407	p.Ala403Val	missense variant	-	NC_000001.11:g.223002605C>T	ExAC,gnomAD
rs1289952456	p.Lys406Arg	missense variant	-	NC_000001.11:g.223002614A>G	TOPMed
rs766466751	p.Asp407Glu	missense variant	-	NC_000001.11:g.223002618C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln408Lys	missense variant	-	NC_000001.11:g.223002619C>A	NCI-TCGA
rs754759315	p.Leu409Pro	missense variant	-	NC_000001.11:g.223002623T>C	ExAC,gnomAD
rs753652728	p.Leu409Phe	missense variant	-	NC_000001.11:g.223002622C>T	ExAC,gnomAD
rs143819396	p.Lys410Arg	missense variant	-	NC_000001.11:g.223002626A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757853636	p.Asn413Ser	missense variant	-	NC_000001.11:g.223002635A>G	ExAC,TOPMed,gnomAD
rs752301395	p.Asn413Asp	missense variant	-	NC_000001.11:g.223002634A>G	ExAC,TOPMed,gnomAD
rs1185667588	p.Val414Met	missense variant	-	NC_000001.11:g.223002637G>A	gnomAD
rs777257995	p.Pro415Ser	missense variant	-	NC_000001.11:g.223002640C>T	ExAC,gnomAD
rs746577969	p.Pro415Leu	missense variant	-	NC_000001.11:g.223002641C>T	ExAC,TOPMed,gnomAD
rs767054825	p.Arg416Cys	missense variant	-	NC_000001.11:g.223002643C>T	ExAC,TOPMed,gnomAD
rs749629171	p.Arg416His	missense variant	-	NC_000001.11:g.223002644G>A	ExAC,TOPMed,gnomAD
rs1366857566	p.Lys417Arg	missense variant	-	NC_000001.11:g.223002647A>G	TOPMed
NCI-TCGA novel	p.Thr419Pro	missense variant	-	NC_000001.11:g.223002652A>C	NCI-TCGA
rs1423630653	p.Lys420Arg	missense variant	-	NC_000001.11:g.223002656A>G	TOPMed
rs1368159731	p.Lys420Glu	missense variant	-	NC_000001.11:g.223002655A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Tyr421Cys	missense variant	-	NC_000001.11:g.223002659A>G	NCI-TCGA
rs1283522491	p.Asn422Asp	missense variant	-	NC_000001.11:g.223002661A>G	gnomAD
rs768929196	p.Asn422Ser	missense variant	-	NC_000001.11:g.223002662A>G	ExAC,TOPMed,gnomAD
rs774576194	p.Val424Ala	missense variant	-	NC_000001.11:g.223002668T>C	ExAC,gnomAD
rs575391513	p.Gln426His	missense variant	-	NC_000001.11:g.223002675G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1206176433	p.Ile427Thr	missense variant	-	NC_000001.11:g.223002677T>C	gnomAD
rs1284008829	p.Leu428Phe	missense variant	-	NC_000001.11:g.223002679C>T	gnomAD
rs1284008829	p.Leu428Val	missense variant	-	NC_000001.11:g.223002679C>G	gnomAD
rs1225070269	p.Tyr430Phe	missense variant	-	NC_000001.11:g.223002686A>T	gnomAD
NCI-TCGA novel	p.Tyr430ValPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.223002667_223002668insTGTACCAGATCCTCCA	NCI-TCGA
rs1454626478	p.Leu431Ser	missense variant	-	NC_000001.11:g.223002689T>C	gnomAD
rs1480176219	p.Lys434Glu	missense variant	-	NC_000001.11:g.223002697A>G	gnomAD
rs760875536	p.Asp435Gly	missense variant	-	NC_000001.11:g.223002701A>G	ExAC,gnomAD
COSM1339101	p.Phe436Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223002703T>C	NCI-TCGA Cosmic
rs1200058031	p.Pro439Thr	missense variant	-	NC_000001.11:g.223002712C>A	TOPMed
rs776731383	p.Lys440Glu	missense variant	-	NC_000001.11:g.223002715A>G	ExAC,gnomAD
RCV000757158	p.Thr441Met	missense variant	-	NC_000001.11:g.223002719C>T	ClinVar
rs114523965	p.Thr441Met	missense variant	-	NC_000001.11:g.223002719C>T	NCI-TCGA,NCI-TCGA Cosmic
rs114523965	p.Thr441Met	missense variant	-	NC_000001.11:g.223002719C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1426302720	p.Ala442Gly	missense variant	-	NC_000001.11:g.223002722C>G	gnomAD
NCI-TCGA novel	p.Ala442Thr	missense variant	-	NC_000001.11:g.223002721G>A	NCI-TCGA
rs1303421718	p.Asp443Gly	missense variant	-	NC_000001.11:g.223002725A>G	TOPMed,gnomAD
rs757971360	p.Tyr444Ser	missense variant	-	NC_000001.11:g.223002728A>C	ExAC,TOPMed,gnomAD
rs374481235	p.Tyr444Ter	stop gained	-	NC_000001.11:g.223002729T>G	ESP,ExAC,gnomAD
rs138859731	p.Tyr444Asp	missense variant	-	NC_000001.11:g.223002727T>G	ESP,ExAC,TOPMed,gnomAD
rs757971360	p.Tyr444Phe	missense variant	-	NC_000001.11:g.223002728A>T	ExAC,TOPMed,gnomAD
rs757971360	p.Tyr444Cys	missense variant	-	NC_000001.11:g.223002728A>G	ExAC,TOPMed,gnomAD
rs190037827	p.Thr446Met	missense variant	-	NC_000001.11:g.223002734C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1314051578	p.Pro447Ser	missense variant	-	NC_000001.11:g.223002736C>T	TOPMed,gnomAD
rs1279471995	p.Tyr451His	missense variant	-	NC_000001.11:g.223002748T>C	gnomAD
rs143019748	p.Met453Ile	missense variant	-	NC_000001.11:g.223002756G>A	1000Genomes,ExAC,gnomAD
rs1344116927	p.Met453Thr	missense variant	-	NC_000001.11:g.223002755T>C	TOPMed
rs1355486325	p.Gly461Arg	missense variant	-	NC_000001.11:g.223002778G>A	gnomAD
rs1490255117	p.Glu462Asp	missense variant	-	NC_000001.11:g.223002783G>T	gnomAD
rs1208230811	p.Ser463Asn	missense variant	-	NC_000001.11:g.223002785G>A	gnomAD
rs1300780896	p.Met464Thr	missense variant	-	NC_000001.11:g.223002788T>C	TOPMed
rs755303223	p.Ile467Thr	missense variant	-	NC_000001.11:g.223002797T>C	ExAC,gnomAD
rs200592414	p.Leu469Ser	missense variant	-	NC_000001.11:g.223002803T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Asp470Asn	missense variant	-	NC_000001.11:g.223002805G>A	NCI-TCGA
rs1361972840	p.Trp475Cys	missense variant	-	NC_000001.11:g.223002822G>T	gnomAD
rs1169269704	p.Trp475Arg	missense variant	-	NC_000001.11:g.223002820T>C	TOPMed
rs779142191	p.Ser477Phe	missense variant	-	NC_000001.11:g.223002827C>T	ExAC,gnomAD
rs138673928	p.Ser478Phe	missense variant	-	NC_000001.11:g.223002830C>T	ESP,ExAC,TOPMed,gnomAD
rs977342304	p.Gly480Asp	missense variant	-	NC_000001.11:g.223002836G>A	TOPMed
rs1299518659	p.Gly480Ser	missense variant	-	NC_000001.11:g.223002835G>A	NCI-TCGA
rs1299518659	p.Gly480Ser	missense variant	-	NC_000001.11:g.223002835G>A	gnomAD
rs371983177	p.Val481Met	missense variant	-	NC_000001.11:g.223002838G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val481Leu	missense variant	-	NC_000001.11:g.223002838G>T	NCI-TCGA
rs771148074	p.Thr483Ala	missense variant	-	NC_000001.11:g.223002844A>G	ExAC,TOPMed,gnomAD
rs776561441	p.Ile484Val	missense variant	-	NC_000001.11:g.223002847A>G	ExAC,gnomAD
rs759386089	p.Thr485Asn	missense variant	-	NC_000001.11:g.223002851C>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr485Ile	missense variant	-	NC_000001.11:g.223002851C>T	NCI-TCGA
rs775124500	p.Gly486Arg	missense variant	-	NC_000001.11:g.223002853G>A	ExAC,TOPMed,gnomAD
rs762778909	p.Phe489Ile	missense variant	-	NC_000001.11:g.223002862T>A	ExAC,gnomAD
rs1253281262	p.Gly490Ser	missense variant	-	NC_000001.11:g.223002865G>A	gnomAD
rs1195332062	p.Ile491Thr	missense variant	-	NC_000001.11:g.223002869T>C	gnomAD
rs1225690651	p.His493Tyr	missense variant	-	NC_000001.11:g.223002874C>T	TOPMed
rs1242366606	p.Gln497Arg	missense variant	-	NC_000001.11:g.223002887A>G	gnomAD
rs1281010740	p.Leu500Val	missense variant	-	NC_000001.11:g.223002895C>G	gnomAD
NCI-TCGA novel	p.Leu500Phe	missense variant	-	NC_000001.11:g.223002895C>T	NCI-TCGA
rs1172145871	p.Thr504Asn	missense variant	-	NC_000001.11:g.223002908C>A	gnomAD
rs761256454	p.Thr504Ala	missense variant	-	NC_000001.11:g.223002907A>G	ExAC,gnomAD
rs750019844	p.Tyr506Cys	missense variant	-	NC_000001.11:g.223002914A>G	ExAC,gnomAD
rs539816731	p.Tyr506His	missense variant	-	NC_000001.11:g.223002913T>C	1000Genomes,ExAC,gnomAD
rs561363825	p.Pro507Leu	missense variant	-	NC_000001.11:g.223002917C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1165677386	p.Pro507Ser	missense variant	-	NC_000001.11:g.223002916C>T	gnomAD
rs779526244	p.Ala508Ser	missense variant	-	NC_000001.11:g.223002919G>T	ExAC,gnomAD
rs752961647	p.Ile509Leu	missense variant	-	NC_000001.11:g.223002922A>T	ExAC,TOPMed,gnomAD
rs752961647	p.Ile509Val	missense variant	-	NC_000001.11:g.223002922A>G	ExAC,TOPMed,gnomAD
rs758853373	p.Ile511Phe	missense variant	-	NC_000001.11:g.223002928A>T	ExAC,gnomAD
rs758853373	p.Ile511Val	missense variant	-	NC_000001.11:g.223002928A>G	ExAC,gnomAD
rs1004724515	p.Ile511Met	missense variant	-	NC_000001.11:g.223002930T>G	gnomAD
rs778079837	p.Val512Met	missense variant	-	NC_000001.11:g.223002931G>A	ExAC,gnomAD
rs747235155	p.Val512Ala	missense variant	-	NC_000001.11:g.223002932T>C	ExAC,gnomAD
rs1204288878	p.Leu515Phe	missense variant	-	NC_000001.11:g.223002940C>T	gnomAD
rs746007047	p.Val517Ile	missense variant	-	NC_000001.11:g.223002946G>A	ExAC,gnomAD
rs960755202	p.Val517Ala	missense variant	-	NC_000001.11:g.223002947T>C	TOPMed
rs960755202	p.Val517Gly	missense variant	-	NC_000001.11:g.223002947T>G	TOPMed
rs1427134868	p.Met518Ile	missense variant	-	NC_000001.11:g.223002951G>T	TOPMed
NCI-TCGA novel	p.Met518Thr	missense variant	-	NC_000001.11:g.223002950T>C	NCI-TCGA
rs1482174166	p.Met518Val	missense variant	-	NC_000001.11:g.223002949A>G	TOPMed,gnomAD
rs769585849	p.Cys519Tyr	missense variant	-	NC_000001.11:g.223002953G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val520LeuPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.223002950_223002951TG>-	NCI-TCGA
rs1262112954	p.Met525Val	missense variant	-	NC_000001.11:g.223002970A>G	TOPMed,gnomAD
rs775531279	p.Met525Thr	missense variant	-	NC_000001.11:g.223002971T>C	ExAC,TOPMed,gnomAD
rs898699853	p.Ile527Leu	missense variant	-	NC_000001.11:g.223002976A>C	TOPMed,gnomAD
rs1469858788	p.Met530Thr	missense variant	-	NC_000001.11:g.223002986T>C	gnomAD
rs1179685200	p.Met530Ile	missense variant	-	NC_000001.11:g.223002987G>A	TOPMed
rs1177850554	p.Met532Val	missense variant	-	NC_000001.11:g.223002991A>G	gnomAD
rs1177850554	p.Met532Leu	missense variant	-	NC_000001.11:g.223002991A>T	gnomAD
rs970333368	p.Ala534Glu	missense variant	-	NC_000001.11:g.223002998C>A	gnomAD
rs768453725	p.Ala534Ser	missense variant	-	NC_000001.11:g.223002997G>T	ExAC,gnomAD
rs773930993	p.Ser537Asn	missense variant	-	NC_000001.11:g.223003007G>A	ExAC,gnomAD
rs773930993	p.Ser537Thr	missense variant	-	NC_000001.11:g.223003007G>C	ExAC,gnomAD
COSM1203665	p.Ser538Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003010C>A	NCI-TCGA Cosmic
rs761454436	p.Leu539Val	missense variant	-	NC_000001.11:g.223003012T>G	ExAC,gnomAD
rs1486678692	p.Ile540Asn	missense variant	-	NC_000001.11:g.223003016T>A	gnomAD
rs1418749665	p.Val541Gly	missense variant	-	NC_000001.11:g.223003019T>G	TOPMed
COSM3369552	p.Ser542Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003021T>G	NCI-TCGA Cosmic
rs749881753	p.Leu545Phe	missense variant	-	NC_000001.11:g.223003030C>T	ExAC,gnomAD
rs765609888	p.Arg547His	missense variant	-	NC_000001.11:g.223003037G>A	ExAC,TOPMed,gnomAD
rs765609888	p.Arg547His	missense variant	-	NC_000001.11:g.223003037G>A	NCI-TCGA,NCI-TCGA Cosmic
rs535777793	p.Arg547Cys	missense variant	-	NC_000001.11:g.223003036C>T	ExAC,TOPMed,gnomAD
rs535777793	p.Arg547Cys	missense variant	-	NC_000001.11:g.223003036C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1282674754	p.Val549Ile	missense variant	-	NC_000001.11:g.223003042G>A	TOPMed,gnomAD
rs753258388	p.Phe552Leu	missense variant	-	NC_000001.11:g.223003053C>A	ExAC,TOPMed,gnomAD
rs753258388	p.Phe552Leu	missense variant	-	NC_000001.11:g.223003053C>G	ExAC,TOPMed,gnomAD
rs760562145	p.Glu553Lys	missense variant	-	NC_000001.11:g.223003054G>A	NCI-TCGA,NCI-TCGA Cosmic
rs760562145	p.Glu553Lys	missense variant	-	NC_000001.11:g.223003054G>A	TOPMed,gnomAD
RCV000223691	p.Glu553Lys	missense variant	-	NC_000001.11:g.223003054G>A	ClinVar
NCI-TCGA novel	p.Glu553Ter	stop gained	-	NC_000001.11:g.223003054G>T	NCI-TCGA
rs1485421031	p.Phe555Val	missense variant	-	NC_000001.11:g.223003060T>G	gnomAD
COSM3484030	p.Pro556Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003063C>T	NCI-TCGA Cosmic
rs182626887	p.Met558Val	missense variant	-	NC_000001.11:g.223003069A>G	1000Genomes,ExAC,gnomAD
rs944817241	p.Leu560Phe	missense variant	-	NC_000001.11:g.223003075C>T	TOPMed
rs1198104112	p.Leu563Phe	missense variant	-	NC_000001.11:g.223003084C>T	gnomAD
rs1419834468	p.Ile565Thr	missense variant	-	NC_000001.11:g.223003091T>C	gnomAD
rs1403634167	p.Val567Ile	missense variant	-	NC_000001.11:g.223003096G>A	TOPMed
rs781516051	p.Gly568Arg	missense variant	-	NC_000001.11:g.223003099G>A	ExAC,gnomAD
rs756242515	p.Ile569Val	missense variant	-	NC_000001.11:g.223003102A>G	ExAC,gnomAD
rs779799303	p.Ile569Thr	missense variant	-	NC_000001.11:g.223003103T>C	ExAC,gnomAD
rs1419457586	p.Ile569Met	missense variant	-	NC_000001.11:g.223003104T>G	gnomAD
rs1184256587	p.Asp573Val	missense variant	-	NC_000001.11:g.223003115A>T	gnomAD
COSM6124936	p.Asp573Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003114G>A	NCI-TCGA Cosmic
rs1296622359	p.Ala574Val	missense variant	-	NC_000001.11:g.223003118C>T	gnomAD
rs749228383	p.Phe575Leu	missense variant	-	NC_000001.11:g.223003120T>C	ExAC,gnomAD
rs1401236904	p.Leu577Pro	missense variant	-	NC_000001.11:g.223003127T>C	TOPMed
rs1365500259	p.Cys578Tyr	missense variant	-	NC_000001.11:g.223003130G>A	gnomAD
rs1225464925	p.Val580Phe	missense variant	-	NC_000001.11:g.223003135G>T	gnomAD
COSM280397	p.Trp581Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.223003140G>A	NCI-TCGA Cosmic
rs1307604521	p.Asn582Tyr	missense variant	-	NC_000001.11:g.223003141A>T	gnomAD
rs1316175685	p.Thr584Ile	missense variant	-	NC_000001.11:g.223003148C>T	gnomAD
rs774122688	p.Phe586Leu	missense variant	-	NC_000001.11:g.223003155T>G	ExAC,gnomAD
rs1377839577	p.Asp587Glu	missense variant	-	NC_000001.11:g.223003158T>A	gnomAD
rs1490415277	p.Asp587His	missense variant	-	NC_000001.11:g.223003156G>C	gnomAD
rs1221190318	p.Lys588Glu	missense variant	-	NC_000001.11:g.223003159A>G	gnomAD
NCI-TCGA novel	p.Pro589His	missense variant	-	NC_000001.11:g.223003163C>A	NCI-TCGA
rs140364622	p.Glu592Lys	missense variant	-	NC_000001.11:g.223003171G>A	1000Genomes,ESP,TOPMed,gnomAD
rs772936765	p.Thr593Ala	missense variant	-	NC_000001.11:g.223003174A>G	ExAC,TOPMed,gnomAD
rs368871472	p.Ser594Leu	missense variant	-	NC_000001.11:g.223003178C>T	TOPMed,gnomAD
rs765914428	p.Glu595Asp	missense variant	-	NC_000001.11:g.223003182A>C	ExAC,gnomAD
rs1387410122	p.Thr596Ile	missense variant	-	NC_000001.11:g.223003184C>T	gnomAD
rs1425543683	p.Val597Leu	missense variant	-	NC_000001.11:g.223003186G>C	TOPMed,gnomAD
rs1425543683	p.Val597Ile	missense variant	-	NC_000001.11:g.223003186G>A	TOPMed,gnomAD
rs1425543683	p.Val597Leu	missense variant	-	NC_000001.11:g.223003186G>T	TOPMed,gnomAD
rs977225055	p.Ile599Leu	missense variant	-	NC_000001.11:g.223003192A>C	TOPMed
rs776343765	p.Thr600Ser	missense variant	-	NC_000001.11:g.223003195A>T	ExAC,gnomAD
rs147916909	p.Leu601Phe	missense variant	-	NC_000001.11:g.223003200G>C	ESP,TOPMed,gnomAD
rs555036894	p.Gln602Lys	missense variant	-	NC_000001.11:g.223003201C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln602Ter	stop gained	-	NC_000001.11:g.223003201C>T	NCI-TCGA
rs375851211	p.Ala604Thr	missense variant	-	NC_000001.11:g.223003207G>A	ESP,ExAC,TOPMed,gnomAD
rs375851211	p.Ala604Ser	missense variant	-	NC_000001.11:g.223003207G>T	ESP,ExAC,TOPMed,gnomAD
rs781742238	p.Met608Val	missense variant	-	NC_000001.11:g.223003219A>G	ExAC,TOPMed,gnomAD
rs941686436	p.Phe609Ile	missense variant	-	NC_000001.11:g.223003222T>A	TOPMed
COSM1960127	p.Phe609Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003222T>C	NCI-TCGA Cosmic
rs748634730	p.Phe609Cys	missense variant	-	NC_000001.11:g.223003223T>G	gnomAD
rs1304068574	p.Val610Leu	missense variant	-	NC_000001.11:g.223003225G>C	gnomAD
rs533562350	p.Ser612Arg	missense variant	-	NC_000001.11:g.223003231A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1231766318	p.Thr615Ala	missense variant	-	NC_000001.11:g.223003240A>G	gnomAD
RCV000756014	p.Thr615Ala	missense variant	-	NC_000001.11:g.223003240A>G	ClinVar
rs749431977	p.Ala617Val	missense variant	-	NC_000001.11:g.223003247C>T	ExAC,gnomAD
rs749431977	p.Ala617Val	missense variant	-	NC_000001.11:g.223003247C>T	NCI-TCGA,NCI-TCGA Cosmic
rs770232963	p.Tyr620His	missense variant	-	NC_000001.11:g.223003255T>C	ExAC,TOPMed,gnomAD
rs1445610831	p.Asn626Ser	missense variant	-	NC_000001.11:g.223003274A>G	gnomAD
rs1366237099	p.Ile627Val	missense variant	-	NC_000001.11:g.223003276A>G	TOPMed
rs778865083	p.Thr628Arg	missense variant	-	NC_000001.11:g.223003280C>G	ExAC,gnomAD
rs778865083	p.Thr628Ile	missense variant	-	NC_000001.11:g.223003280C>T	ExAC,gnomAD
rs973061591	p.Ala629Thr	missense variant	-	NC_000001.11:g.223003282G>A	TOPMed,gnomAD
rs973061591	p.Ala629Thr	missense variant	-	NC_000001.11:g.223003282G>A	NCI-TCGA Cosmic
rs368949985	p.Arg631Leu	missense variant	-	NC_000001.11:g.223003289G>T	ESP,ExAC,TOPMed,gnomAD
rs747887655	p.Arg631Ter	stop gained	-	NC_000001.11:g.223003288C>T	NCI-TCGA,NCI-TCGA Cosmic
rs368949985	p.Arg631Gln	missense variant	-	NC_000001.11:g.223003289G>A	ESP,ExAC,TOPMed,gnomAD
rs747887655	p.Arg631Ter	stop gained	-	NC_000001.11:g.223003288C>T	ExAC,gnomAD
rs368949985	p.Arg631Gln	missense variant	-	NC_000001.11:g.223003289G>A	NCI-TCGA
rs371359855	p.Cys632Phe	missense variant	-	NC_000001.11:g.223003292G>T	ESP,ExAC,gnomAD
rs770547973	p.Gly634Arg	missense variant	-	NC_000001.11:g.223003297G>A	ExAC,gnomAD
rs139362609	p.Val635Ile	missense variant	-	NC_000001.11:g.223003300G>A	ESP,TOPMed
rs139362609	p.Val635Phe	missense variant	-	NC_000001.11:g.223003300G>T	ESP,TOPMed
rs148231227	p.Ala637Val	missense variant	-	NC_000001.11:g.223003307C>T	NCI-TCGA,NCI-TCGA Cosmic
rs148231227	p.Ala637Val	missense variant	-	NC_000001.11:g.223003307C>T	1000Genomes,ExAC
rs762028035	p.Gly638Arg	missense variant	-	NC_000001.11:g.223003309G>C	ExAC,gnomAD
rs375928938	p.Thr639Ile	missense variant	-	NC_000001.11:g.223003313C>T	ESP,TOPMed
rs150311676	p.Ile641Val	missense variant	-	NC_000001.11:g.223003318A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs753886707	p.Leu642Ser	missense variant	-	NC_000001.11:g.223003322T>C	ExAC,gnomAD
rs1265521752	p.Val646Ile	missense variant	-	NC_000001.11:g.223003333G>A	TOPMed,gnomAD
rs755084650	p.Met648Ile	missense variant	-	NC_000001.11:g.223003341G>A	ExAC,TOPMed,gnomAD
COSM6061742	p.Thr650Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003345A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr650Ile	missense variant	-	NC_000001.11:g.223003346C>T	NCI-TCGA
rs899864367	p.Trp651Cys	missense variant	-	NC_000001.11:g.223003350G>T	TOPMed
rs758331125	p.Trp651Gly	missense variant	-	NC_000001.11:g.223003348T>G	ExAC,gnomAD
rs758331125	p.Trp651Arg	missense variant	-	NC_000001.11:g.223003348T>C	ExAC,gnomAD
rs148124771	p.Trp651Leu	missense variant	-	NC_000001.11:g.223003349G>T	ESP,ExAC,TOPMed,gnomAD
rs746828233	p.Leu652Phe	missense variant	-	NC_000001.11:g.223003351C>T	ExAC,TOPMed,gnomAD
rs781021329	p.Ala654Glu	missense variant	-	NC_000001.11:g.223003358C>A	ExAC,gnomAD
NCI-TCGA novel	p.Val655Phe	missense variant	-	NC_000001.11:g.223003360G>T	NCI-TCGA
rs975190369	p.His659Tyr	missense variant	-	NC_000001.11:g.223003372C>T	gnomAD
rs769444873	p.His659Pro	missense variant	-	NC_000001.11:g.223003373A>C	ExAC,gnomAD
rs769444873	p.His659Arg	missense variant	-	NC_000001.11:g.223003373A>G	ExAC,gnomAD
rs975190369	p.His659Asn	missense variant	-	NC_000001.11:g.223003372C>A	gnomAD
rs1431100967	p.Glu660Lys	missense variant	-	NC_000001.11:g.223003375G>A	gnomAD
rs369217520	p.Arg661Trp	missense variant	-	NC_000001.11:g.223003378C>T	ESP,ExAC,TOPMed,gnomAD
rs373851972	p.Arg661Gln	missense variant	-	NC_000001.11:g.223003379G>A	ESP,ExAC,TOPMed,gnomAD
rs369217520	p.Arg661Trp	missense variant	-	NC_000001.11:g.223003378C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1324911688	p.Phe667Leu	missense variant	-	NC_000001.11:g.223003396T>C	gnomAD
COSM679439	p.Thr668Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003399A>T	NCI-TCGA Cosmic
rs1200328068	p.Thr668Ala	missense variant	-	NC_000001.11:g.223003399A>G	gnomAD
rs772513509	p.Thr668Ile	missense variant	-	NC_000001.11:g.223003400C>T	ExAC
rs1277029757	p.Cys669Phe	missense variant	-	NC_000001.11:g.223003403G>T	gnomAD
rs138078434	p.Gln674His	missense variant	-	NC_000001.11:g.223003419G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754069672	p.Gln675Lys	missense variant	-	NC_000001.11:g.223003420C>A	ExAC,gnomAD
rs539197788	p.Ile677Val	missense variant	-	NC_000001.11:g.223003426A>G	1000Genomes,ExAC,gnomAD
rs752773807	p.Tyr678His	missense variant	-	NC_000001.11:g.223003429T>C	ExAC,TOPMed,gnomAD
rs752773807	p.Tyr678Asp	missense variant	-	NC_000001.11:g.223003429T>G	ExAC,TOPMed,gnomAD
rs1200969619	p.Lys681Glu	missense variant	-	NC_000001.11:g.223003438A>G	TOPMed
rs751327025	p.Lys681Arg	missense variant	-	NC_000001.11:g.223003439A>G	ExAC,TOPMed,gnomAD
rs376978669	p.Ser682Thr	missense variant	-	NC_000001.11:g.223003442G>C	ESP,ExAC,gnomAD
rs376978669	p.Ser682Asn	missense variant	-	NC_000001.11:g.223003442G>A	ESP,ExAC,gnomAD
rs745521672	p.Cys683Arg	missense variant	-	NC_000001.11:g.223003444T>C	ExAC,TOPMed,gnomAD
rs147132038	p.Trp684Arg	missense variant	-	NC_000001.11:g.223003447T>C	ESP,ExAC,gnomAD
rs1329938439	p.Trp684Ter	stop gained	-	NC_000001.11:g.223003449G>A	gnomAD
rs779698268	p.Thr685Ile	missense variant	-	NC_000001.11:g.223003451C>T	ExAC,gnomAD
rs1353340610	p.Val686Ala	missense variant	-	NC_000001.11:g.223003454T>C	gnomAD
rs748802428	p.Val686Met	missense variant	-	NC_000001.11:g.223003453G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val686Glu	missense variant	-	NC_000001.11:g.223003454T>A	NCI-TCGA
rs1204737958	p.Ala687Val	missense variant	-	NC_000001.11:g.223003457C>T	TOPMed
rs772604564	p.Cys688Phe	missense variant	-	NC_000001.11:g.223003460G>T	ExAC,gnomAD
rs773625592	p.Gln689Leu	missense variant	-	NC_000001.11:g.223003463A>T	ExAC,TOPMed,gnomAD
rs773625592	p.Gln689Arg	missense variant	-	NC_000001.11:g.223003463A>G	ExAC,TOPMed,gnomAD
rs761054779	p.Gln689His	missense variant	-	NC_000001.11:g.223003464G>C	ExAC,gnomAD
rs557556931	p.Lys690Arg	missense variant	-	NC_000001.11:g.223003466A>G	1000Genomes,ExAC,gnomAD
rs1196737438	p.Lys693Glu	missense variant	-	NC_000001.11:g.223003474A>G	gnomAD
COSM1339103	p.Val694Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003477G>T	NCI-TCGA Cosmic
rs1365438703	p.Leu695Arg	missense variant	-	NC_000001.11:g.223003481T>G	gnomAD
COSM904351	p.Leu695Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003480C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu695Val	missense variant	-	NC_000001.11:g.223003480C>G	NCI-TCGA
rs1157851709	p.Phe696Leu	missense variant	-	NC_000001.11:g.223003483T>C	TOPMed,gnomAD
rs1426170438	p.Ile698Val	missense variant	-	NC_000001.11:g.223003489A>G	gnomAD
rs1397760930	p.Ser702Thr	missense variant	-	NC_000001.11:g.223003501T>A	gnomAD
rs752790327	p.Arg703Leu	missense variant	-	NC_000001.11:g.223003505G>T	ExAC,TOPMed,gnomAD
rs752790327	p.Arg703Gln	missense variant	-	NC_000001.11:g.223003505G>A	NCI-TCGA
rs1163812623	p.Arg703Gly	missense variant	-	NC_000001.11:g.223003504C>G	gnomAD
rs752790327	p.Arg703Gln	missense variant	-	NC_000001.11:g.223003505G>A	ExAC,TOPMed,gnomAD
rs1384536703	p.Ile704Ser	missense variant	-	NC_000001.11:g.223003508T>G	gnomAD
rs762973341	p.Phe705Ser	missense variant	-	NC_000001.11:g.223003511T>C	ExAC,gnomAD
rs369580331	p.Glu707Lys	missense variant	-	NC_000001.11:g.223003516G>A	ESP,ExAC,TOPMed,gnomAD
rs369580331	p.Glu707Lys	missense variant	-	NC_000001.11:g.223003516G>A	NCI-TCGA,NCI-TCGA Cosmic
rs757047497	p.Lys708Glu	missense variant	-	NC_000001.11:g.223003519A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val709TyrPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.223003517A>-	NCI-TCGA
rs1248522530	p.Pro711Ser	missense variant	-	NC_000001.11:g.223003528C>T	gnomAD
rs767417397	p.Cys712Ser	missense variant	-	NC_000001.11:g.223003531T>A	ExAC,gnomAD
rs1355786834	p.Cys712Tyr	missense variant	-	NC_000001.11:g.223003532G>A	gnomAD
rs1252699560	p.Lys716Asn	missense variant	-	NC_000001.11:g.223003545G>T	gnomAD
rs201743091	p.Arg718His	missense variant	-	NC_000001.11:g.223003550G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs755807282	p.Arg718Cys	missense variant	-	NC_000001.11:g.223003549C>T	ExAC,TOPMed,gnomAD
rs755807282	p.Arg718Cys	missense variant	-	NC_000001.11:g.223003549C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1446205358	p.Tyr719Ser	missense variant	-	NC_000001.11:g.223003553A>C	gnomAD
rs754471361	p.Leu720Arg	missense variant	-	NC_000001.11:g.223003556T>G	ExAC,gnomAD
rs376932856	p.Trp724Cys	missense variant	-	NC_000001.11:g.223003569G>T	ESP,ExAC,TOPMed,gnomAD
rs201705065	p.Trp724Leu	missense variant	-	NC_000001.11:g.223003568G>T	ExAC,TOPMed,gnomAD
rs376932856	p.Trp724Cys	missense variant	-	NC_000001.11:g.223003569G>C	ESP,ExAC,TOPMed,gnomAD
rs201705065	p.Trp724Ser	missense variant	-	NC_000001.11:g.223003568G>C	ExAC,TOPMed,gnomAD
rs1466661761	p.Ala727Val	missense variant	-	NC_000001.11:g.223003577C>T	gnomAD
rs1375213139	p.Val730Ile	missense variant	-	NC_000001.11:g.223003585G>A	gnomAD
rs746271401	p.Gly731Asp	missense variant	-	NC_000001.11:g.223003589G>A	ExAC,gnomAD
rs763031170	p.Tyr734Ter	stop gained	-	NC_000001.11:g.223003599C>A	ExAC,gnomAD
RCV000419225	p.Tyr734Ter	nonsense	-	NC_000001.11:g.223003599C>A	ClinVar
rs1253154864	p.Ile735Thr	missense variant	-	NC_000001.11:g.223003601T>C	gnomAD
NCI-TCGA novel	p.Ile735Val	missense variant	-	NC_000001.11:g.223003600A>G	NCI-TCGA
rs1318692402	p.Val736Ile	missense variant	-	NC_000001.11:g.223003603G>A	gnomAD
rs1318692402	p.Val736Leu	missense variant	-	NC_000001.11:g.223003603G>T	gnomAD
rs1197987732	p.Ile738Arg	missense variant	-	NC_000001.11:g.223003610T>G	gnomAD
rs1256042911	p.Ile738Met	missense variant	-	NC_000001.11:g.223003611A>G	gnomAD
COSM904352	p.Asn739Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003612A>G	NCI-TCGA Cosmic
rs371601719	p.Asn739Ser	missense variant	-	NC_000001.11:g.223003613A>G	ESP,ExAC,TOPMed,gnomAD
rs1255144246	p.Lys741Asn	missense variant	-	NC_000001.11:g.223003620G>T	TOPMed,gnomAD
rs1255144246	p.Lys741Asn	missense variant	-	NC_000001.11:g.223003620G>C	TOPMed,gnomAD
rs1182254613	p.Lys741Glu	missense variant	-	NC_000001.11:g.223003618A>G	gnomAD
rs1317582325	p.Met742Val	missense variant	-	NC_000001.11:g.223003621A>G	TOPMed,gnomAD
rs1197795322	p.Lys743Gln	missense variant	-	NC_000001.11:g.223003624A>C	TOPMed
rs1045187099	p.Ser746Leu	missense variant	-	NC_000001.11:g.223003634C>T	TOPMed,gnomAD
rs767613451	p.Glu751Gln	missense variant	-	NC_000001.11:g.223003648G>C	ExAC,TOPMed,gnomAD
rs767613451	p.Glu751Lys	missense variant	-	NC_000001.11:g.223003648G>A	ExAC,TOPMed,gnomAD
rs767613451	p.Glu751Lys	missense variant	-	NC_000001.11:g.223003648G>A	NCI-TCGA
rs756008378	p.Gln753His	missense variant	-	NC_000001.11:g.223003656G>T	ExAC,gnomAD
rs766010478	p.Arg756Trp	missense variant	-	NC_000001.11:g.223003663C>T	NCI-TCGA,NCI-TCGA Cosmic
rs148437031	p.Arg756Gln	missense variant	-	NC_000001.11:g.223003664G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148437031	p.Arg756Pro	missense variant	-	NC_000001.11:g.223003664G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766010478	p.Arg756Trp	missense variant	-	NC_000001.11:g.223003663C>T	ExAC,TOPMed,gnomAD
rs754723527	p.Ser757Ter	stop gained	-	NC_000001.11:g.223003667C>A	ExAC,TOPMed,gnomAD
rs754723527	p.Ser757Leu	missense variant	-	NC_000001.11:g.223003667C>T	ExAC,TOPMed,gnomAD
COSM679437	p.Ser757Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003667C>G	NCI-TCGA Cosmic
rs754723527	p.Ser757Ter	stop gained	-	NC_000001.11:g.223003667C>A	NCI-TCGA
rs754723527	p.Ser757Leu	missense variant	-	NC_000001.11:g.223003667C>T	NCI-TCGA
rs1335376662	p.Phe761Val	missense variant	-	NC_000001.11:g.223003678T>G	TOPMed
rs1064794816	p.Glu762Gln	missense variant	-	NC_000001.11:g.223003681G>C	-
RCV000482296	p.Glu762Gln	missense variant	-	NC_000001.11:g.223003681G>C	ClinVar
rs759714329	p.Arg763Cys	missense variant	-	NC_000001.11:g.223003684C>T	ExAC,TOPMed,gnomAD
rs757727140	p.Arg763His	missense variant	-	NC_000001.11:g.223003685G>A	ExAC,TOPMed,gnomAD
rs759714329	p.Arg763Cys	missense variant	-	NC_000001.11:g.223003684C>T	NCI-TCGA,NCI-TCGA Cosmic
rs746181825	p.Asp765Val	missense variant	-	NC_000001.11:g.223003691A>T	ExAC,gnomAD
rs770065834	p.Tyr768His	missense variant	-	NC_000001.11:g.223003699T>C	ExAC,TOPMed,gnomAD
rs1378163776	p.Lys769Glu	missense variant	-	NC_000001.11:g.223003702A>G	TOPMed
COSM4935119	p.Lys769Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003703A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe772Ser	missense variant	-	NC_000001.11:g.223003712T>C	NCI-TCGA
rs775713432	p.Met773Val	missense variant	-	NC_000001.11:g.223003714A>G	ExAC,gnomAD
rs372615313	p.Met773Ile	missense variant	-	NC_000001.11:g.223003716G>A	TOPMed,gnomAD
rs372615313	p.Met773Ile	missense variant	-	NC_000001.11:g.223003716G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu775Ter	stop gained	-	NC_000001.11:g.223003720G>T	NCI-TCGA
rs1190910014	p.Arg776His	missense variant	-	NC_000001.11:g.223003724G>A	gnomAD
rs1057137792	p.Arg776Cys	missense variant	-	NC_000001.11:g.223003723C>T	TOPMed,gnomAD
rs1430720968	p.Val777Phe	missense variant	-	NC_000001.11:g.223003726G>T	gnomAD
rs545584717	p.Glu781Lys	missense variant	-	NC_000001.11:g.223003738G>A	NCI-TCGA,NCI-TCGA Cosmic
rs545584717	p.Glu781Lys	missense variant	-	NC_000001.11:g.223003738G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767525747	p.Glu782Lys	missense variant	-	NC_000001.11:g.223003741G>A	ExAC,TOPMed,gnomAD
rs1464718896	p.Leu783Phe	missense variant	-	NC_000001.11:g.223003744C>T	gnomAD
rs1361435298	p.Met785Leu	missense variant	-	NC_000001.11:g.223003750A>T	TOPMed,gnomAD
rs1361435298	p.Met785Val	missense variant	-	NC_000001.11:g.223003750A>G	TOPMed,gnomAD
rs773308344	p.Pro786Thr	missense variant	-	NC_000001.11:g.223003753C>A	ExAC,gnomAD
rs773308344	p.Pro786Ser	missense variant	-	NC_000001.11:g.223003753C>T	ExAC,gnomAD
rs760491197	p.Ile787Val	missense variant	-	NC_000001.11:g.223003756A>G	ExAC,gnomAD
rs1219797730	p.Gly792Val	missense variant	-	NC_000001.11:g.223003772G>T	gnomAD
rs201522623	p.Val793Met	missense variant	-	NC_000001.11:g.223003774G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs974949472	p.Ser794Pro	missense variant	-	NC_000001.11:g.223003777T>C	TOPMed,gnomAD
rs143904366	p.Ser794Cys	missense variant	-	NC_000001.11:g.223003778C>G	ESP,TOPMed
rs764977296	p.Pro795Leu	missense variant	-	NC_000001.11:g.223003781C>T	ExAC,gnomAD
rs757925527	p.Glu796Lys	missense variant	-	NC_000001.11:g.223003783G>A	ExAC
rs775603223	p.Asn798Ser	missense variant	-	NC_000001.11:g.223003790A>G	ExAC,TOPMed,gnomAD
rs781619253	p.Asn798Asp	missense variant	-	NC_000001.11:g.223003789A>G	ExAC,gnomAD
rs756711550	p.Gly799Arg	missense variant	-	NC_000001.11:g.223003792G>C	ExAC,gnomAD
rs749711578	p.Asn800Ser	missense variant	-	NC_000001.11:g.223003796A>G	ExAC,TOPMed,gnomAD
rs779312476	p.Asn803Ser	missense variant	-	NC_000001.11:g.223003805A>G	ExAC,gnomAD
rs748193973	p.Lys805Arg	missense variant	-	NC_000001.11:g.223003811A>G	ExAC,gnomAD
rs1291133030	p.Ser806Asn	missense variant	-	NC_000001.11:g.223003814G>A	TOPMed
rs768273418	p.Asp813His	missense variant	-	NC_000001.11:g.223003834G>C	NCI-TCGA
rs147223870	p.Asp813Glu	missense variant	-	NC_000001.11:g.223003836T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773219773	p.Asp813Gly	missense variant	-	NC_000001.11:g.223003835A>G	ExAC,gnomAD
rs768273418	p.Asp813His	missense variant	-	NC_000001.11:g.223003834G>C	-
rs1424932016	p.Ser814Gly	missense variant	-	NC_000001.11:g.223003837A>G	TOPMed
rs770947437	p.Phe816Val	missense variant	-	NC_000001.11:g.223003843T>G	ExAC,TOPMed,gnomAD
rs759403717	p.Ile818Phe	missense variant	-	NC_000001.11:g.223003849A>T	ExAC,gnomAD
rs1064794602	p.Ala819Asp	missense variant	-	NC_000001.11:g.223003853C>A	gnomAD
rs201957626	p.Ala819Pro	missense variant	-	NC_000001.11:g.223003852G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201957626	p.Ala819Thr	missense variant	-	NC_000001.11:g.223003852G>A	NCI-TCGA
rs1064794602	p.Ala819Gly	missense variant	-	NC_000001.11:g.223003853C>G	gnomAD
rs201957626	p.Ala819Thr	missense variant	-	NC_000001.11:g.223003852G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000480553	p.Ala819Asp	missense variant	-	NC_000001.11:g.223003853C>A	ClinVar
rs1263103965	p.Ala822Gly	missense variant	-	NC_000001.11:g.223003862C>G	gnomAD
rs751130024	p.Gln824His	missense variant	-	NC_000001.11:g.223003869G>C	ExAC,gnomAD
rs763588849	p.Gln824Arg	missense variant	-	NC_000001.11:g.223003868A>G	ExAC,gnomAD
rs1487376385	p.Ala825Val	missense variant	-	NC_000001.11:g.223003871C>T	TOPMed
COSM4028550	p.His829Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003883A>G	NCI-TCGA Cosmic
RCV000478275	p.His829Tyr	missense variant	-	NC_000001.11:g.223003882C>T	ClinVar
rs760552910	p.His829Tyr	missense variant	-	NC_000001.11:g.223003882C>T	TOPMed,gnomAD
rs1361869246	p.Cys831Arg	missense variant	-	NC_000001.11:g.223003888T>C	TOPMed
rs531689215	p.Gln832Glu	missense variant	-	NC_000001.11:g.223003891C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1416273209	p.Asn836Lys	missense variant	-	NC_000001.11:g.223003905C>A	gnomAD
rs1244593629	p.Phe839Leu	missense variant	-	NC_000001.11:g.223003914C>G	TOPMed
NCI-TCGA novel	p.Phe839Leu	missense variant	-	NC_000001.11:g.223003914C>A	NCI-TCGA
rs780652006	p.Phe840Leu	missense variant	-	NC_000001.11:g.223003915T>C	ExAC,TOPMed,gnomAD
rs754113301	p.Phe840Ser	missense variant	-	NC_000001.11:g.223003916T>C	ExAC,gnomAD
rs911650631	p.Gln842Arg	missense variant	-	NC_000001.11:g.223003922A>G	TOPMed,gnomAD
rs1320262116	p.Thr843Ile	missense variant	-	NC_000001.11:g.223003925C>T	TOPMed,gnomAD
rs748388363	p.Ile853Thr	missense variant	-	NC_000001.11:g.223003955T>C	ExAC,TOPMed,gnomAD
rs748388363	p.Ile853Asn	missense variant	-	NC_000001.11:g.223003955T>A	ExAC,TOPMed,gnomAD
rs1444274012	p.Glu854Lys	missense variant	-	NC_000001.11:g.223003957G>A	gnomAD
COSM4402019	p.Glu854Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003958A>G	NCI-TCGA Cosmic
rs772493389	p.Phe856Leu	missense variant	-	NC_000001.11:g.223003963T>C	ExAC,gnomAD
rs1457251226	p.Lys857Arg	missense variant	-	NC_000001.11:g.223003967A>G	TOPMed
rs201397298	p.Lys857Gln	missense variant	-	NC_000001.11:g.223003966A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs747150584	p.Gln858Arg	missense variant	-	NC_000001.11:g.223003970A>G	ExAC,gnomAD
COSM1473427	p.Trp859Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003974G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn862ThrPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.223003979A>-	NCI-TCGA
rs1373406921	p.Gln863Arg	missense variant	-	NC_000001.11:g.223003985A>G	TOPMed
COSM679436	p.Gln863His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223003986G>T	NCI-TCGA Cosmic
rs1201123921	p.Asp864Tyr	missense variant	-	NC_000001.11:g.223003987G>T	TOPMed,gnomAD
rs1201123921	p.Asp864His	missense variant	-	NC_000001.11:g.223003987G>C	TOPMed,gnomAD
rs1457678098	p.Pro868Thr	missense variant	-	NC_000001.11:g.223003999C>A	gnomAD
rs770730341	p.Ala869Ser	missense variant	-	NC_000001.11:g.223004002G>T	ExAC,gnomAD
rs769581422	p.Tyr871Asn	missense variant	-	NC_000001.11:g.223004008T>A	ExAC,gnomAD
rs1478831650	p.Pro872Leu	missense variant	-	NC_000001.11:g.223004012C>T	gnomAD
rs762582544	p.Ser875Arg	missense variant	-	NC_000001.11:g.223004022C>G	ExAC,gnomAD
rs532488229	p.Trp877Gly	missense variant	-	NC_000001.11:g.223004026T>G	1000Genomes,ExAC,gnomAD
rs773822529	p.Pro880Ser	missense variant	-	NC_000001.11:g.223004035C>T	ExAC,gnomAD
COSM3484038	p.Glu884Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004047G>A	NCI-TCGA Cosmic
rs138904556	p.Glu884Asp	missense variant	-	NC_000001.11:g.223004049G>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu884Gly	missense variant	-	NC_000001.11:g.223004048A>G	NCI-TCGA
rs138904556	p.Glu884Asp	missense variant	-	NC_000001.11:g.223004049G>T	NCI-TCGA
rs1422752664	p.Phe886Val	missense variant	-	NC_000001.11:g.223004053T>G	TOPMed
COSM3418794	p.Phe886Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004054T>G	NCI-TCGA Cosmic
rs1359521196	p.Glu887Lys	missense variant	-	NC_000001.11:g.223004056G>A	TOPMed,gnomAD
rs1359521196	p.Glu887Ter	stop gained	-	NC_000001.11:g.223004056G>T	TOPMed,gnomAD
rs754384908	p.Leu888Arg	missense variant	-	NC_000001.11:g.223004060T>G	ExAC,TOPMed,gnomAD
rs1209436557	p.Ile890Asn	missense variant	-	NC_000001.11:g.223004066T>A	TOPMed
rs1341873442	p.Ile890Leu	missense variant	-	NC_000001.11:g.223004065A>C	gnomAD
rs1481193986	p.Ala893Thr	missense variant	-	NC_000001.11:g.223004074G>A	TOPMed
rs1218740081	p.Ile894Thr	missense variant	-	NC_000001.11:g.223004078T>C	gnomAD
rs1217144107	p.Met895Lys	missense variant	-	NC_000001.11:g.223004081T>A	TOPMed
rs921413613	p.Glu896Val	missense variant	-	NC_000001.11:g.223004084A>T	TOPMed
rs1276968609	p.Glu896Gln	missense variant	-	NC_000001.11:g.223004083G>C	gnomAD
rs1217272059	p.Arg899Ser	missense variant	-	NC_000001.11:g.223004094G>C	TOPMed,gnomAD
rs199544731	p.Ser900Gly	missense variant	-	NC_000001.11:g.223004095A>G	1000Genomes
rs765696618	p.Ser900Asn	missense variant	-	NC_000001.11:g.223004096G>A	ExAC,gnomAD
rs753157479	p.Ser900Arg	missense variant	-	NC_000001.11:g.223004097T>A	ExAC,TOPMed,gnomAD
rs143532301	p.Gly902Glu	missense variant	-	NC_000001.11:g.223004102G>A	ESP,ExAC,TOPMed,gnomAD
rs758659029	p.Gly902Arg	missense variant	-	NC_000001.11:g.223004101G>A	ExAC,gnomAD
rs543931560	p.Tyr903Cys	missense variant	-	NC_000001.11:g.223004105A>G	gnomAD
rs1298800689	p.His904Asn	missense variant	-	NC_000001.11:g.223004107C>A	TOPMed
rs1298800689	p.His904Tyr	missense variant	-	NC_000001.11:g.223004107C>T	TOPMed
rs757370413	p.Leu905Ser	missense variant	-	NC_000001.11:g.223004111T>C	ExAC,TOPMed,gnomAD
rs1399534420	p.Asp906Gly	missense variant	-	NC_000001.11:g.223004114A>G	TOPMed
RCV000757157	p.Ser907Gly	missense variant	-	NC_000001.11:g.223004116A>G	ClinVar
rs934670686	p.Ser907Gly	missense variant	-	NC_000001.11:g.223004116A>G	TOPMed
rs1425668107	p.Pro910Ser	missense variant	-	NC_000001.11:g.223004125C>T	gnomAD
rs370723049	p.Pro912Leu	missense variant	-	NC_000001.11:g.223004132C>T	ESP,gnomAD
rs1400171455	p.Phe914Cys	missense variant	-	NC_000001.11:g.223004138T>G	gnomAD
rs1400171455	p.Phe914Cys	missense variant	-	NC_000001.11:g.223004138T>G	NCI-TCGA Cosmic
rs1481483940	p.Ile916Val	missense variant	-	NC_000001.11:g.223004143A>G	TOPMed
rs1403384115	p.Asn917Lys	missense variant	-	NC_000001.11:g.223004148T>A	gnomAD
rs769780977	p.Asn917Ser	missense variant	-	NC_000001.11:g.223004147A>G	ExAC,gnomAD
rs1337770054	p.Asp918Gly	missense variant	-	NC_000001.11:g.223004150A>G	gnomAD
rs1375978788	p.Asp918Tyr	missense variant	-	NC_000001.11:g.223004149G>T	TOPMed
rs775244309	p.Arg921Ser	missense variant	-	NC_000001.11:g.223004160G>T	ExAC,gnomAD
rs1429313480	p.Arg921Met	missense variant	-	NC_000001.11:g.223004159G>T	gnomAD
rs1163877976	p.Ala922Ser	missense variant	-	NC_000001.11:g.223004161G>T	gnomAD
rs1219044828	p.Val924Met	missense variant	-	NC_000001.11:g.223004167G>A	gnomAD
rs1276874869	p.Val924Ala	missense variant	-	NC_000001.11:g.223004168T>C	gnomAD
rs1356125293	p.Leu925Val	missense variant	-	NC_000001.11:g.223004170T>G	NCI-TCGA
rs1356125293	p.Leu925Val	missense variant	-	NC_000001.11:g.223004170T>G	TOPMed,gnomAD
rs368598646	p.Gln928Ter	stop gained	-	NC_000001.11:g.223004179C>T	ESP,ExAC
rs116310302	p.Gln928Arg	missense variant	-	NC_000001.11:g.223004180A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr930Ile	missense variant	-	NC_000001.11:g.223004186C>T	NCI-TCGA
rs772668830	p.Tyr931Ser	missense variant	-	NC_000001.11:g.223004189A>C	ExAC,TOPMed,gnomAD
rs902109375	p.Tyr931His	missense variant	-	NC_000001.11:g.223004188T>C	gnomAD
rs765882083	p.Glu938Ter	stop gained	-	NC_000001.11:g.223004209G>T	ExAC,TOPMed,gnomAD
rs1420005163	p.Lys939Glu	missense variant	-	NC_000001.11:g.223004212A>G	TOPMed,gnomAD
rs1231801318	p.Gln942Lys	missense variant	-	NC_000001.11:g.223004221C>A	TOPMed
rs1335995969	p.Tyr944Cys	missense variant	-	NC_000001.11:g.223004228A>G	TOPMed
rs758853404	p.Ser949Leu	missense variant	-	NC_000001.11:g.223004243C>T	ExAC,gnomAD
rs758853404	p.Ser949Leu	missense variant	-	NC_000001.11:g.223004243C>T	NCI-TCGA
NCI-TCGA novel	p.Trp950Cys	missense variant	-	NC_000001.11:g.223004247G>T	NCI-TCGA
rs1332203207	p.Ser952Phe	missense variant	-	NC_000001.11:g.223004252C>T	gnomAD
rs1375839584	p.Ser953Asn	missense variant	-	NC_000001.11:g.223004255G>A	TOPMed
rs952101465	p.Ser956Cys	missense variant	-	NC_000001.11:g.223004263A>T	TOPMed,gnomAD
rs757488321	p.Ser956Asn	missense variant	-	NC_000001.11:g.223004264G>A	ExAC,TOPMed,gnomAD
rs757488321	p.Ser956Ile	missense variant	-	NC_000001.11:g.223004264G>T	ExAC,TOPMed,gnomAD
rs191290309	p.Ser957Leu	missense variant	-	NC_000001.11:g.223004267C>T	NCI-TCGA,NCI-TCGA Cosmic
rs191290309	p.Ser957Leu	missense variant	-	NC_000001.11:g.223004267C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM414614	p.Glu960Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004275G>C	NCI-TCGA Cosmic
rs756014852	p.Gly961Asp	missense variant	-	NC_000001.11:g.223004279G>A	ExAC,gnomAD
rs1211734741	p.Ser963Gly	missense variant	-	NC_000001.11:g.223004284A>G	gnomAD
rs780000188	p.Asn964Lys	missense variant	-	NC_000001.11:g.223004289T>G	ExAC
rs1450970962	p.Asn964Ser	missense variant	-	NC_000001.11:g.223004288A>G	gnomAD
rs749035153	p.Trp966Cys	missense variant	-	NC_000001.11:g.223004295G>T	ExAC
rs749035153	p.Trp966Ter	stop gained	-	NC_000001.11:g.223004295G>A	ExAC
RCV000223782	p.Trp966Ter	nonsense	microform holoprosencephaly	NC_000001.11:g.223004295G>A	ClinVar
rs574387803	p.Val968Phe	missense variant	-	NC_000001.11:g.223004299G>T	ExAC,TOPMed,gnomAD
rs113641550	p.Asn970Ser	missense variant	-	NC_000001.11:g.223004306A>G	TOPMed
rs1440052517	p.Leu971Pro	missense variant	-	NC_000001.11:g.223004309T>C	gnomAD
rs747836454	p.Phe973Val	missense variant	-	NC_000001.11:g.223004314T>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe973Leu	missense variant	-	NC_000001.11:g.223004316C>A	NCI-TCGA
rs771684471	p.Tyr974Cys	missense variant	-	NC_000001.11:g.223004318A>G	ExAC,TOPMed,gnomAD
rs760288803	p.Asp975Glu	missense variant	-	NC_000001.11:g.223004322C>A	ExAC,gnomAD
rs760288803	p.Asp975Glu	missense variant	-	NC_000001.11:g.223004322C>A	NCI-TCGA
rs1441196962	p.Asp978Tyr	missense variant	-	NC_000001.11:g.223004329G>T	TOPMed
rs763341969	p.Ser979Gly	missense variant	-	NC_000001.11:g.223004332A>G	ExAC,gnomAD
rs763341969	p.Ser979Cys	missense variant	-	NC_000001.11:g.223004332A>T	ExAC,gnomAD
rs762072719	p.Asp982Asn	missense variant	-	NC_000001.11:g.223004341G>A	NCI-TCGA,NCI-TCGA Cosmic
rs762072719	p.Asp982Asn	missense variant	-	NC_000001.11:g.223004341G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly983Cys	missense variant	-	NC_000001.11:g.223004344G>T	NCI-TCGA
rs750462520	p.Thr984Ile	missense variant	-	NC_000001.11:g.223004348C>T	ExAC
rs750462520	p.Thr984Ser	missense variant	-	NC_000001.11:g.223004348C>G	ExAC
rs756210932	p.Leu985Val	missense variant	-	NC_000001.11:g.223004350C>G	ExAC,TOPMed,gnomAD
rs779910274	p.Leu985Arg	missense variant	-	NC_000001.11:g.223004351T>G	ExAC,gnomAD
rs754978377	p.Met988Leu	missense variant	-	NC_000001.11:g.223004359A>C	ExAC,TOPMed,gnomAD
rs754978377	p.Met988Leu	missense variant	-	NC_000001.11:g.223004359A>T	ExAC,TOPMed,gnomAD
rs754978377	p.Met988Val	missense variant	-	NC_000001.11:g.223004359A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser991Pro	missense variant	-	NC_000001.11:g.223004368T>C	NCI-TCGA
rs1287769213	p.Val992Ile	missense variant	-	NC_000001.11:g.223004371G>A	TOPMed
NCI-TCGA novel	p.Ala993Asp	missense variant	-	NC_000001.11:g.223004375C>A	NCI-TCGA
rs1315511349	p.Ser997Gly	missense variant	-	NC_000001.11:g.223004386A>G	TOPMed
rs765028963	p.Val998Met	missense variant	-	NC_000001.11:g.223004389G>A	ExAC,gnomAD
rs765028963	p.Val998Leu	missense variant	-	NC_000001.11:g.223004389G>T	ExAC,gnomAD
rs1425254005	p.Met999Val	missense variant	-	NC_000001.11:g.223004392A>G	gnomAD
COSM4028556	p.Thr1003Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004404A>C	NCI-TCGA Cosmic
rs776345397	p.Thr1003Asn	missense variant	-	NC_000001.11:g.223004405C>A	ExAC,TOPMed,gnomAD
rs776345397	p.Thr1003Ile	missense variant	-	NC_000001.11:g.223004405C>T	ExAC,TOPMed,gnomAD
rs763540751	p.Trp1004Cys	missense variant	-	NC_000001.11:g.223004409G>C	ExAC,gnomAD
rs924869801	p.Ile1008Val	missense variant	-	NC_000001.11:g.223004419A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Leu1010Phe	missense variant	-	NC_000001.11:g.223004425C>T	NCI-TCGA
rs1403112498	p.Tyr1011Ser	missense variant	-	NC_000001.11:g.223004429A>C	gnomAD
rs1387200351	p.Ala1012Val	missense variant	-	NC_000001.11:g.223004432C>T	TOPMed
rs1387200351	p.Ala1012Val	missense variant	-	NC_000001.11:g.223004432C>T	NCI-TCGA Cosmic
rs769091015	p.Ile1013Val	missense variant	-	NC_000001.11:g.223004434A>G	ExAC,gnomAD
rs774748002	p.Ile1014Thr	missense variant	-	NC_000001.11:g.223004438T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile1016Thr	missense variant	-	NC_000001.11:g.223004444T>C	NCI-TCGA
NCI-TCGA novel	p.Ala1017Thr	missense variant	-	NC_000001.11:g.223004446G>A	NCI-TCGA
rs762116103	p.Thr1019Met	missense variant	-	NC_000001.11:g.223004453C>T	ExAC,gnomAD
rs750659344	p.Ile1020Val	missense variant	-	NC_000001.11:g.223004455A>G	ExAC,TOPMed,gnomAD
rs760684378	p.Phe1021Leu	missense variant	-	NC_000001.11:g.223004458T>C	ExAC,gnomAD
rs766445253	p.Phe1021Cys	missense variant	-	NC_000001.11:g.223004459T>G	ExAC,gnomAD
rs1472728438	p.Ser1026Ala	missense variant	-	NC_000001.11:g.223004473T>G	TOPMed,gnomAD
rs753980966	p.Ser1026Tyr	missense variant	-	NC_000001.11:g.223004474C>A	NCI-TCGA,NCI-TCGA Cosmic
COSM1689891	p.Ser1026Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004474C>T	NCI-TCGA Cosmic
rs753980966	p.Ser1026Tyr	missense variant	-	NC_000001.11:g.223004474C>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu1027Val	missense variant	-	NC_000001.11:g.223004476C>G	NCI-TCGA
NCI-TCGA novel	p.Leu1027Phe	missense variant	-	NC_000001.11:g.223004476C>T	NCI-TCGA
rs1217927537	p.Val1028Ile	missense variant	-	NC_000001.11:g.223004479G>A	TOPMed,gnomAD
rs1237479245	p.Leu1029Val	missense variant	-	NC_000001.11:g.223004482C>G	TOPMed
rs758139027	p.Trp1032Cys	missense variant	-	NC_000001.11:g.223004493G>T	ExAC,gnomAD
rs757026962	p.Asn1035Asp	missense variant	-	NC_000001.11:g.223004500A>G	ExAC,gnomAD
rs757026962	p.Asn1035Asp	missense variant	-	NC_000001.11:g.223004500A>G	NCI-TCGA,NCI-TCGA Cosmic
RCV000486922	p.Asn1035Ser	missense variant	-	NC_000001.11:g.223004501A>G	ClinVar
rs192049195	p.Asn1035Ser	missense variant	-	NC_000001.11:g.223004501A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu1038Gln	missense variant	-	NC_000001.11:g.223004509G>C	NCI-TCGA
NCI-TCGA novel	p.Thr1041Ala	missense variant	-	NC_000001.11:g.223004518A>G	NCI-TCGA
rs1441336617	p.Ile1042Thr	missense variant	-	NC_000001.11:g.223004522T>C	gnomAD
rs943680811	p.Ser1043Leu	missense variant	-	NC_000001.11:g.223004525C>T	NCI-TCGA Cosmic
rs943680811	p.Ser1043Leu	missense variant	-	NC_000001.11:g.223004525C>T	TOPMed,gnomAD
rs1401799043	p.Ala1045Val	missense variant	-	NC_000001.11:g.223004531C>T	gnomAD
rs779451585	p.Val1046Ile	missense variant	-	NC_000001.11:g.223004533G>A	gnomAD
rs748488978	p.Gly1047Ser	missense variant	-	NC_000001.11:g.223004536G>A	NCI-TCGA
rs748488978	p.Gly1047Ser	missense variant	-	NC_000001.11:g.223004536G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val1050Ala	missense variant	-	NC_000001.11:g.223004546T>C	NCI-TCGA
COSM679435	p.Asp1051Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004550C>A	NCI-TCGA Cosmic
COSM679433	p.Phe1052Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004551T>G	NCI-TCGA Cosmic
rs576683817	p.Ala1053Val	missense variant	-	NC_000001.11:g.223004555C>T	NCI-TCGA
rs576683817	p.Ala1053Val	missense variant	-	NC_000001.11:g.223004555C>T	1000Genomes,gnomAD
rs773636648	p.Ala1053Pro	missense variant	-	NC_000001.11:g.223004554G>C	ExAC,gnomAD
rs766641928	p.Val1054Ile	missense variant	-	NC_000001.11:g.223004557G>A	ExAC,TOPMed,gnomAD
rs766641928	p.Val1054Ile	missense variant	-	NC_000001.11:g.223004557G>A	NCI-TCGA
NCI-TCGA novel	p.Val1054Ala	missense variant	-	NC_000001.11:g.223004558T>C	NCI-TCGA
COSM3484040	p.His1055Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004560C>T	NCI-TCGA Cosmic
rs1399418551	p.Val1058Ile	missense variant	-	NC_000001.11:g.223004569G>A	TOPMed
rs371849402	p.Arg1061Cys	missense variant	-	NC_000001.11:g.223004578C>T	ESP,ExAC,TOPMed,gnomAD
rs765161029	p.Arg1061His	missense variant	-	NC_000001.11:g.223004579G>A	ExAC,TOPMed,gnomAD
rs1260302134	p.Pro1064Leu	missense variant	-	NC_000001.11:g.223004588C>T	gnomAD
rs758426284	p.Pro1064Ala	missense variant	-	NC_000001.11:g.223004587C>G	ExAC,gnomAD
rs763967788	p.Asp1065Gly	missense variant	-	NC_000001.11:g.223004591A>G	ExAC,TOPMed,gnomAD
rs200714482	p.Asp1067His	missense variant	-	NC_000001.11:g.223004596G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200714482	p.Asp1067Asn	missense variant	-	NC_000001.11:g.223004596G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781023274	p.Arg1068Ter	stop gained	-	NC_000001.11:g.223004599C>T	ExAC,gnomAD
rs745335414	p.Arg1068Gln	missense variant	-	NC_000001.11:g.223004600G>A	ExAC,TOPMed,gnomAD
RCV000519011	p.Arg1068Ter	nonsense	-	NC_000001.11:g.223004599C>T	ClinVar
rs755594706	p.Glu1069Lys	missense variant	-	NC_000001.11:g.223004602G>A	ExAC,TOPMed,gnomAD
RCV000481343	p.Glu1069Gly	missense variant	-	NC_000001.11:g.223004603A>G	ClinVar
rs1064795201	p.Glu1069Gly	missense variant	-	NC_000001.11:g.223004603A>G	-
rs74148215	p.Gly1070Ala	missense variant	-	NC_000001.11:g.223004606G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs74148215	p.Gly1070Asp	missense variant	-	NC_000001.11:g.223004606G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile1073Val	missense variant	-	NC_000001.11:g.223004614A>G	NCI-TCGA
rs150111973	p.Arg1078Leu	missense variant	-	NC_000001.11:g.223004630G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150111973	p.Arg1078His	missense variant	-	NC_000001.11:g.223004630G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773546911	p.Arg1078Cys	missense variant	-	NC_000001.11:g.223004629C>T	ExAC,gnomAD
rs76611705	p.Val1079Met	missense variant	-	NC_000001.11:g.223004632G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs76611705	p.Val1079Leu	missense variant	-	NC_000001.11:g.223004632G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM904359	p.Ser1081Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004639C>A	NCI-TCGA Cosmic
rs765224335	p.Ala1082Val	missense variant	-	NC_000001.11:g.223004642C>T	ExAC,TOPMed,gnomAD
rs765224335	p.Ala1082Val	missense variant	-	NC_000001.11:g.223004642C>T	NCI-TCGA,NCI-TCGA Cosmic
rs369366153	p.Met1083Leu	missense variant	-	NC_000001.11:g.223004644A>C	ESP,TOPMed,gnomAD
rs764166328	p.Met1083Ile	missense variant	-	NC_000001.11:g.223004646G>A	ExAC,TOPMed,gnomAD
rs369366153	p.Met1083Val	missense variant	-	NC_000001.11:g.223004644A>G	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1084Val	missense variant	-	NC_000001.11:g.223004648C>T	NCI-TCGA
rs1349478217	p.Met1085Val	missense variant	-	NC_000001.11:g.223004650A>G	TOPMed
rs757140927	p.Ala1087Gly	missense variant	-	NC_000001.11:g.223004657C>G	ExAC,gnomAD
rs1381172097	p.Phe1091Cys	missense variant	-	NC_000001.11:g.223004669T>G	gnomAD
rs767221242	p.Phe1091Ile	missense variant	-	NC_000001.11:g.223004668T>A	ExAC,TOPMed,gnomAD
rs151272947	p.Val1092Met	missense variant	-	NC_000001.11:g.223004671G>A	ESP,ExAC,TOPMed,gnomAD
rs1176608154	p.Ala1095Thr	missense variant	-	NC_000001.11:g.223004680G>A	gnomAD
rs201752012	p.Met1096Val	missense variant	-	NC_000001.11:g.223004683A>G	ESP,ExAC,TOPMed,gnomAD
rs144673025	p.Met1096Thr	missense variant	-	NC_000001.11:g.223004684T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1392074655	p.Met1098Val	missense variant	-	NC_000001.11:g.223004689A>G	gnomAD
NCI-TCGA novel	p.Met1098Ile	missense variant	-	NC_000001.11:g.223004691G>A	NCI-TCGA
rs772292374	p.Pro1099Leu	missense variant	-	NC_000001.11:g.223004693C>T	ExAC,TOPMed,gnomAD
COSM1689892	p.Ser1100Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004696C>T	NCI-TCGA Cosmic
COSM6061739	p.Val1102Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004702T>G	NCI-TCGA Cosmic
rs1221655544	p.Val1102Ile	missense variant	-	NC_000001.11:g.223004701G>A	gnomAD
rs913637974	p.Ala1104Pro	missense variant	-	NC_000001.11:g.223004707G>C	TOPMed
rs1423095017	p.Thr1106Ile	missense variant	-	NC_000001.11:g.223004714C>T	gnomAD
rs781666190	p.Thr1106Ala	missense variant	-	NC_000001.11:g.223004713A>G	ExAC,gnomAD
rs770102959	p.Met1112Thr	missense variant	-	NC_000001.11:g.223004732T>C	ExAC,TOPMed,gnomAD
rs1458903064	p.Met1112Ile	missense variant	-	NC_000001.11:g.223004733G>A	TOPMed
rs775401031	p.Met1113Val	missense variant	-	NC_000001.11:g.223004734A>G	ExAC,gnomAD
rs763124800	p.Met1113Lys	missense variant	-	NC_000001.11:g.223004735T>A	ExAC,gnomAD
rs548908533	p.Ile1115Met	missense variant	-	NC_000001.11:g.223004742C>G	1000Genomes,ExAC,gnomAD
rs1414029812	p.Ile1118Val	missense variant	-	NC_000001.11:g.223004749A>G	TOPMed,gnomAD
rs774444607	p.Ile1118Asn	missense variant	-	NC_000001.11:g.223004750T>A	ExAC,gnomAD
rs1415610435	p.Trp1120Ter	stop gained	-	NC_000001.11:g.223004757G>A	gnomAD
rs1467069354	p.Ala1121Val	missense variant	-	NC_000001.11:g.223004759C>T	TOPMed,gnomAD
rs1467069354	p.Ala1121Gly	missense variant	-	NC_000001.11:g.223004759C>G	TOPMed,gnomAD
rs1402808733	p.Ala1123Thr	missense variant	-	NC_000001.11:g.223004764G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala1123Ser	missense variant	-	NC_000001.11:g.223004764G>T	NCI-TCGA
rs145137054	p.Gln1128His	missense variant	-	NC_000001.11:g.223004781G>C	ESP,ExAC,TOPMed,gnomAD
rs1439647875	p.Met1130Ile	missense variant	-	NC_000001.11:g.223004787G>A	gnomAD
rs143043410	p.Arg1132Gln	missense variant	-	NC_000001.11:g.223004792G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760225936	p.Arg1132Trp	missense variant	-	NC_000001.11:g.223004791C>T	ExAC,gnomAD
rs1227261823	p.Cys1133Phe	missense variant	-	NC_000001.11:g.223004795G>T	gnomAD
rs754492774	p.Cys1133Ter	stop gained	-	NC_000001.11:g.223004796C>A	ExAC,gnomAD
rs1372181516	p.Leu1134Phe	missense variant	-	NC_000001.11:g.223004797C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Leu1134ProPheSerTerUnk	frameshift	-	NC_000001.11:g.223004798_223004820TTGGACCACAGGGTACCTGTGGT>-	NCI-TCGA
rs1202745707	p.Gly1138Ala	missense variant	-	NC_000001.11:g.223004810G>C	gnomAD
rs752053269	p.Gly1138Ser	missense variant	-	NC_000001.11:g.223004809G>A	ExAC,gnomAD
rs760771357	p.Thr1139Ile	missense variant	-	NC_000001.11:g.223004813C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys1140Ter	stop gained	-	NC_000001.11:g.223004815_223004816insAG	NCI-TCGA
rs1483673756	p.Gly1141Ser	missense variant	-	NC_000001.11:g.223004818G>A	gnomAD
rs1255413828	p.Ile1143Thr	missense variant	-	NC_000001.11:g.223004825T>C	gnomAD
COSM904361	p.Pro1144Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004828C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys1148AsnPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.223004836A>-	NCI-TCGA
rs746283315	p.Cys1151Arg	missense variant	-	NC_000001.11:g.223004848T>C	ExAC,gnomAD
rs141653283	p.Ser1152Gly	missense variant	-	NC_000001.11:g.223004851A>G	ESP,ExAC,TOPMed,gnomAD
rs141653283	p.Ser1152Gly	missense variant	-	NC_000001.11:g.223004851A>G	NCI-TCGA
rs1177901257	p.Ala1153Val	missense variant	-	NC_000001.11:g.223004855C>T	gnomAD
rs780345599	p.Phe1154Val	missense variant	-	NC_000001.11:g.223004857T>G	ExAC,TOPMed,gnomAD
COSM3484042	p.Ser1155Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004861C>T	NCI-TCGA Cosmic
rs1341818570	p.His1156Arg	missense variant	-	NC_000001.11:g.223004864A>G	gnomAD
rs749324608	p.Ala1157Val	missense variant	-	NC_000001.11:g.223004867C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala1157Thr	missense variant	-	NC_000001.11:g.223004866G>A	NCI-TCGA
rs774640911	p.Thr1160Ala	missense variant	-	NC_000001.11:g.223004875A>G	ExAC,gnomAD
rs376562189	p.Ser1163Asn	missense variant	-	NC_000001.11:g.223004885G>A	ESP,ExAC,gnomAD
rs61743732	p.Ser1163Gly	missense variant	-	NC_000001.11:g.223004884A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000757156	p.Ser1163Gly	missense variant	-	NC_000001.11:g.223004884A>G	ClinVar
rs772854919	p.Asp1164Tyr	missense variant	-	NC_000001.11:g.223004887G>T	ExAC,TOPMed,gnomAD
rs760553860	p.Lys1165Glu	missense variant	-	NC_000001.11:g.223004890A>G	ExAC,gnomAD
rs765903966	p.Gly1166Arg	missense variant	-	NC_000001.11:g.223004893G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser1168Ile	missense variant	-	NC_000001.11:g.223004900G>T	NCI-TCGA
rs897895048	p.Asn1174Ser	missense variant	-	NC_000001.11:g.223004918A>G	TOPMed,gnomAD
rs759248532	p.Asn1174Tyr	missense variant	-	NC_000001.11:g.223004917A>T	ExAC,gnomAD
rs764710984	p.Ala1175Ser	missense variant	-	NC_000001.11:g.223004920G>T	ExAC,TOPMed,gnomAD
rs1196374759	p.Ala1175Val	missense variant	-	NC_000001.11:g.223004921C>T	gnomAD
rs764710984	p.Ala1175Thr	missense variant	-	NC_000001.11:g.223004920G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His1177Tyr	missense variant	-	NC_000001.11:g.223004926C>T	NCI-TCGA
rs571258186	p.Asp1179Ala	missense variant	-	NC_000001.11:g.223004933A>C	1000Genomes,ExAC,gnomAD
rs768099137	p.Asp1179Asn	missense variant	-	NC_000001.11:g.223004932G>A	ExAC,gnomAD
COSM4489828	p.Pro1180Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004935C>T	NCI-TCGA Cosmic
rs1326374316	p.Arg1181Ser	missense variant	-	NC_000001.11:g.223004940G>T	NCI-TCGA
rs1326374316	p.Arg1181Ser	missense variant	-	NC_000001.11:g.223004940G>T	gnomAD
rs903615335	p.Gly1182Val	missense variant	-	NC_000001.11:g.223004942G>T	TOPMed
rs756514692	p.Gly1182Cys	missense variant	-	NC_000001.11:g.223004941G>T	ExAC,TOPMed,gnomAD
rs756514692	p.Gly1182Ser	missense variant	-	NC_000001.11:g.223004941G>A	ExAC,TOPMed,gnomAD
rs1372168474	p.Lys1184Gln	missense variant	-	NC_000001.11:g.223004947A>C	gnomAD
NCI-TCGA novel	p.Glu1186Val	missense variant	-	NC_000001.11:g.223004954A>T	NCI-TCGA
rs999218801	p.His1189Arg	missense variant	-	NC_000001.11:g.223004963A>G	TOPMed
COSM6124935	p.His1189Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004963A>C	NCI-TCGA Cosmic
COSM254652	p.Glu1190Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004965G>C	NCI-TCGA Cosmic
rs373963776	p.Phe1191Ser	missense variant	-	NC_000001.11:g.223004969T>C	ESP,ExAC,TOPMed,gnomAD
COSM3484043	p.Glu1193Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223004974G>A	NCI-TCGA Cosmic
rs1217448078	p.Glu1193Asp	missense variant	-	NC_000001.11:g.223004976A>C	gnomAD
rs1031827162	p.Pro1196Ser	missense variant	-	NC_000001.11:g.223004983C>T	TOPMed,gnomAD
rs1451993871	p.Pro1196Leu	missense variant	-	NC_000001.11:g.223004984C>T	gnomAD
NCI-TCGA novel	p.Pro1196His	missense variant	-	NC_000001.11:g.223004984C>A	NCI-TCGA
rs755310780	p.Ser1199Phe	missense variant	-	NC_000001.11:g.223004993C>T	ExAC,gnomAD
rs779116132	p.Ser1201Arg	missense variant	-	NC_000001.11:g.223005000C>A	ExAC,gnomAD
NCI-TCGA novel	p.Cys1202Ser	missense variant	-	NC_000001.11:g.223005002G>C	NCI-TCGA
rs748281770	p.Thr1203Ile	missense variant	-	NC_000001.11:g.223005005C>T	ExAC,gnomAD
rs771868499	p.Ala1204Val	missense variant	-	NC_000001.11:g.223005008C>T	ExAC,TOPMed,gnomAD
rs773228647	p.Pro1205His	missense variant	-	NC_000001.11:g.223005011C>A	ExAC,gnomAD
rs559553543	p.Glu1206Asp	missense variant	-	NC_000001.11:g.223005015G>C	ExAC,TOPMed,gnomAD
rs759163712	p.Thr1208Ile	missense variant	-	NC_000001.11:g.223005020C>T	ExAC,gnomAD
rs140037475	p.Thr1209Ala	missense variant	-	NC_000001.11:g.223005022A>G	ESP,ExAC,TOPMed,gnomAD
rs1326089162	p.Glu1212Gln	missense variant	-	NC_000001.11:g.223005031G>C	TOPMed,gnomAD
rs765153780	p.Thr1213Pro	missense variant	-	NC_000001.11:g.223005034A>C	NCI-TCGA,NCI-TCGA Cosmic
rs765153780	p.Thr1213Pro	missense variant	-	NC_000001.11:g.223005034A>C	ExAC,gnomAD
rs1445260660	p.Thr1213Ile	missense variant	-	NC_000001.11:g.223005035C>T	TOPMed
rs1358057867	p.Ile1215Val	missense variant	-	NC_000001.11:g.223005040A>G	TOPMed
rs1358057867	p.Ile1215Phe	missense variant	-	NC_000001.11:g.223005040A>T	TOPMed
rs750944404	p.Glu1218Gln	missense variant	-	NC_000001.11:g.223005049G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1222Asn	missense variant	-	NC_000001.11:g.223005062G>A	NCI-TCGA
rs756647421	p.Gln1223Arg	missense variant	-	NC_000001.11:g.223005065A>G	ExAC,TOPMed,gnomAD
COSM6061737	p.Ala1224Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005068C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn1226Ile	missense variant	-	NC_000001.11:g.223005074A>T	NCI-TCGA
rs1240017866	p.Leu1227Ser	missense variant	-	NC_000001.11:g.223005077T>C	gnomAD
NCI-TCGA novel	p.Gly1228Trp	missense variant	-	NC_000001.11:g.223005079G>T	NCI-TCGA
rs766753675	p.Met1229Ile	missense variant	-	NC_000001.11:g.223005084G>A	ExAC,TOPMed,gnomAD
rs754305951	p.Pro1230Ser	missense variant	-	NC_000001.11:g.223005085C>T	ExAC,gnomAD
rs755222820	p.Val1231Met	missense variant	-	NC_000001.11:g.223005088G>A	ExAC,TOPMed,gnomAD
rs755222820	p.Val1231Leu	missense variant	-	NC_000001.11:g.223005088G>C	ExAC,TOPMed,gnomAD
rs748194236	p.Tyr1235Asp	missense variant	-	NC_000001.11:g.223005100T>G	ExAC,gnomAD
rs1467939710	p.Tyr1235Ter	stop gained	-	NC_000001.11:g.223005102C>A	TOPMed,gnomAD
RCV000579116	p.Tyr1235Ter	nonsense	-	NC_000001.11:g.223005102C>A	ClinVar
rs758505802	p.Asn1236Ser	missense variant	-	NC_000001.11:g.223005104A>G	ExAC,gnomAD
rs1180037992	p.Ser1237Gly	missense variant	-	NC_000001.11:g.223005106A>G	TOPMed
rs115615723	p.Leu1239Pro	missense variant	-	NC_000001.11:g.223005113T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1457989201	p.Lys1241Asn	missense variant	-	NC_000001.11:g.223005120A>C	gnomAD
COSM3804017	p.Glu1244Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.223005127G>T	NCI-TCGA Cosmic
rs746964677	p.Ser1245Arg	missense variant	-	NC_000001.11:g.223005132T>A	ExAC,TOPMed,gnomAD
rs72744122	p.Asp1246Glu	missense variant	-	NC_000001.11:g.223005135C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764362546	p.Asp1246Gly	missense variant	-	NC_000001.11:g.223005134A>G	gnomAD
rs9441940	p.Ala1247Ser	missense variant	-	NC_000001.11:g.223005136G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs9441940	p.Ala1247Thr	missense variant	-	NC_000001.11:g.223005136G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM904362	p.Pro1254Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005157C>G	NCI-TCGA Cosmic
rs1228265904	p.Pro1254Ser	missense variant	-	NC_000001.11:g.223005157C>T	TOPMed
rs1392231452	p.Pro1255Leu	missense variant	-	NC_000001.11:g.223005161C>T	TOPMed,gnomAD
rs763645744	p.Pro1255Ser	missense variant	-	NC_000001.11:g.223005160C>T	ExAC,gnomAD
rs773799152	p.Leu1256Pro	missense variant	-	NC_000001.11:g.223005164T>C	ExAC,gnomAD
rs151004865	p.Glu1257Asp	missense variant	-	NC_000001.11:g.223005168A>C	ESP,ExAC,TOPMed,gnomAD
rs1247114380	p.Gln1258Ter	stop gained	-	NC_000001.11:g.223005169C>T	gnomAD
rs766841925	p.His1259Arg	missense variant	-	NC_000001.11:g.223005173A>G	ExAC
RCV000506084	p.Val1261Met	missense variant	-	NC_000001.11:g.223005178G>A	ClinVar
rs61746480	p.Val1261Leu	missense variant	-	NC_000001.11:g.223005178G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61746480	p.Val1261Met	missense variant	-	NC_000001.11:g.223005178G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752958936	p.His1263Pro	missense variant	-	NC_000001.11:g.223005185A>C	ExAC,TOPMed
rs1259820531	p.Phe1265Leu	missense variant	-	NC_000001.11:g.223005190T>C	gnomAD
rs1194917138	p.Asn1268Ser	missense variant	-	NC_000001.11:g.223005200A>G	gnomAD
NCI-TCGA novel	p.Gln1269His	missense variant	-	NC_000001.11:g.223005204G>C	NCI-TCGA
rs777881907	p.Cys1271Tyr	missense variant	-	NC_000001.11:g.223005209G>A	ExAC,gnomAD
rs1443724161	p.Cys1273Phe	missense variant	-	NC_000001.11:g.223005215G>T	gnomAD
rs1476865164	p.Pro1274Leu	missense variant	-	NC_000001.11:g.223005218C>T	TOPMed
rs757172195	p.Asp1275Asn	missense variant	-	NC_000001.11:g.223005220G>A	ExAC,gnomAD
rs543740042	p.Asp1275Ala	missense variant	-	NC_000001.11:g.223005221A>C	1000Genomes,ExAC,gnomAD
COSM463986	p.Tyr1277His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005226T>C	NCI-TCGA Cosmic
rs565286472	p.Tyr1277Phe	missense variant	-	NC_000001.11:g.223005227A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs779881634	p.Lys1278Ile	missense variant	-	NC_000001.11:g.223005230A>T	ExAC,TOPMed,gnomAD
rs748964993	p.His1279Asp	missense variant	-	NC_000001.11:g.223005232C>G	ExAC,TOPMed,gnomAD
rs748964993	p.His1279Tyr	missense variant	-	NC_000001.11:g.223005232C>T	ExAC,TOPMed,gnomAD
rs754468285	p.Leu1280Met	missense variant	-	NC_000001.11:g.223005235T>A	ExAC,TOPMed,gnomAD
rs149190569	p.Asn1281Ile	missense variant	-	NC_000001.11:g.223005239A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1326917582	p.Tyr1282His	missense variant	-	NC_000001.11:g.223005241T>C	gnomAD
NCI-TCGA novel	p.Tyr1282Cys	missense variant	-	NC_000001.11:g.223005242A>G	NCI-TCGA
rs1249332552	p.His1285Arg	missense variant	-	NC_000001.11:g.223005251A>G	gnomAD
rs761249398	p.His1285Tyr	missense variant	-	NC_000001.11:g.223005250C>T	ExAC,gnomAD
rs771521993	p.Ser1286Pro	missense variant	-	NC_000001.11:g.223005253T>C	ExAC,gnomAD
rs771521993	p.Ser1286Thr	missense variant	-	NC_000001.11:g.223005253T>A	ExAC,gnomAD
rs1211139189	p.Ser1286Tyr	missense variant	-	NC_000001.11:g.223005254C>A	gnomAD
COSM1501480	p.Gln1289His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005264G>T	NCI-TCGA Cosmic
rs1484385404	p.Gln1289Ter	stop gained	-	NC_000001.11:g.223005262C>T	gnomAD
rs1043428331	p.Met1290Val	missense variant	-	NC_000001.11:g.223005265A>G	TOPMed
rs1195161968	p.Gly1291Glu	missense variant	-	NC_000001.11:g.223005269G>A	gnomAD
rs1429568532	p.Asp1292His	missense variant	-	NC_000001.11:g.223005271G>C	gnomAD
rs1392387966	p.Leu1294Trp	missense variant	-	NC_000001.11:g.223005278T>G	TOPMed
rs1467826731	p.His1296Arg	missense variant	-	NC_000001.11:g.223005284A>G	gnomAD
rs1371698223	p.His1296Tyr	missense variant	-	NC_000001.11:g.223005283C>T	gnomAD
rs753047329	p.Ser1299Phe	missense variant	-	NC_000001.11:g.223005293C>T	ExAC,TOPMed,gnomAD
rs765696705	p.Ser1299Pro	missense variant	-	NC_000001.11:g.223005292T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser1299PhePheSerTerUnk	frameshift	-	NC_000001.11:g.223005292_223005293insTTTG	NCI-TCGA
rs61838467	p.Pro1300Thr	missense variant	-	NC_000001.11:g.223005295C>A	ExAC,TOPMed,gnomAD
rs61838467	p.Pro1300Ser	missense variant	-	NC_000001.11:g.223005295C>T	ExAC,TOPMed,gnomAD
rs764247196	p.Thr1301Ala	missense variant	-	NC_000001.11:g.223005298A>G	ExAC,gnomAD
rs202223783	p.Thr1301Ile	missense variant	-	NC_000001.11:g.223005299C>T	1000Genomes,ExAC,gnomAD
rs949588915	p.Thr1302Ala	missense variant	-	NC_000001.11:g.223005301A>G	TOPMed
rs1332581627	p.Ser1303Thr	missense variant	-	NC_000001.11:g.223005305G>C	gnomAD
rs757289454	p.Ser1303Gly	missense variant	-	NC_000001.11:g.223005304A>G	ExAC,TOPMed,gnomAD
rs781051159	p.Ser1304Thr	missense variant	-	NC_000001.11:g.223005308G>C	ExAC,gnomAD
rs781051159	p.Ser1304Asn	missense variant	-	NC_000001.11:g.223005308G>A	ExAC,gnomAD
rs201104916	p.Phe1305Leu	missense variant	-	NC_000001.11:g.223005310T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs756110743	p.Val1306Ala	missense variant	-	NC_000001.11:g.223005314T>C	ExAC,gnomAD
rs779791789	p.Gln1307Pro	missense variant	-	NC_000001.11:g.223005317A>C	ExAC,gnomAD
COSM414613	p.Gln1307His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005318G>C	NCI-TCGA Cosmic
rs1486518369	p.Ile1308Met	missense variant	-	NC_000001.11:g.223005321C>G	TOPMed,gnomAD
rs143356409	p.Gly1311Ser	missense variant	-	NC_000001.11:g.223005328G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147445335	p.Val1312Met	missense variant	-	NC_000001.11:g.223005331G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147445335	p.Val1312Met	missense variant	-	NC_000001.11:g.223005331G>A	NCI-TCGA
NCI-TCGA novel	p.Ala1313Ser	missense variant	-	NC_000001.11:g.223005334G>T	NCI-TCGA
NCI-TCGA novel	p.Leu1315Met	missense variant	-	NC_000001.11:g.223005340C>A	NCI-TCGA
rs772927612	p.Ala1317Val	missense variant	-	NC_000001.11:g.223005347C>T	ExAC,gnomAD
rs760092614	p.Thr1318Ile	missense variant	-	NC_000001.11:g.223005350C>T	ExAC,gnomAD
rs138305944	p.Ala1321Thr	missense variant	-	NC_000001.11:g.223005358G>A	ESP,TOPMed
NCI-TCGA novel	p.Ala1321Val	missense variant	-	NC_000001.11:g.223005359C>T	NCI-TCGA
rs1328173884	p.Val1322Ile	missense variant	-	NC_000001.11:g.223005361G>A	NCI-TCGA
rs1328173884	p.Val1322Ile	missense variant	-	NC_000001.11:g.223005361G>A	-
rs149927406	p.Glu1323Lys	missense variant	-	NC_000001.11:g.223005364G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200895673	p.Phe1325Ser	missense variant	-	NC_000001.11:g.223005371T>C	TOPMed,gnomAD
rs549797135	p.Val1326Leu	missense variant	-	NC_000001.11:g.223005373G>C	1000Genomes
rs1392739069	p.His1327Arg	missense variant	-	NC_000001.11:g.223005377A>G	gnomAD
rs763260621	p.His1327Gln	missense variant	-	NC_000001.11:g.223005378C>A	ExAC,gnomAD
rs142220719	p.Ile1329Val	missense variant	-	NC_000001.11:g.223005382A>G	ESP,ExAC,TOPMed,gnomAD
rs140229487	p.Thr1330Met	missense variant	-	NC_000001.11:g.223005386C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140229487	p.Thr1330Met	missense variant	-	NC_000001.11:g.223005386C>T	NCI-TCGA,NCI-TCGA Cosmic
rs767580243	p.His1331Tyr	missense variant	-	NC_000001.11:g.223005388C>T	ExAC,gnomAD
rs750541511	p.His1331Pro	missense variant	-	NC_000001.11:g.223005389A>C	ExAC,TOPMed,gnomAD
RCV000480989	p.His1331Ter	frameshift	-	NC_000001.11:g.223005387_223005390del	ClinVar
RCV000271064	p.His1331Pro	missense variant	-	NC_000001.11:g.223005389A>C	ClinVar
rs756022821	p.His1334Tyr	missense variant	-	NC_000001.11:g.223005397C>T	ExAC,gnomAD
rs1361876483	p.His1334Arg	missense variant	-	NC_000001.11:g.223005398A>G	TOPMed,gnomAD
RCV000484674	p.Cys1337Ter	frameshift	-	NC_000001.11:g.223005405del	ClinVar
rs753627240	p.Gln1339Arg	missense variant	-	NC_000001.11:g.223005413A>G	ExAC,TOPMed,gnomAD
rs754730870	p.Val1342Ile	missense variant	-	NC_000001.11:g.223005421G>A	ExAC,TOPMed,gnomAD
rs754730870	p.Val1342Leu	missense variant	-	NC_000001.11:g.223005421G>T	ExAC,TOPMed,gnomAD
rs199726209	p.Val1342Ala	missense variant	-	NC_000001.11:g.223005422T>C	1000Genomes
rs1156949331	p.Ala1345Val	missense variant	-	NC_000001.11:g.223005431C>T	gnomAD
rs201945216	p.Gly1346Arg	missense variant	-	NC_000001.11:g.223005433G>A	1000Genomes,ExAC,gnomAD
rs777402944	p.Gly1346Val	missense variant	-	NC_000001.11:g.223005434G>T	ExAC,gnomAD
rs746542625	p.Met1347Ile	missense variant	-	NC_000001.11:g.223005438G>A	ExAC,gnomAD
rs757725090	p.Gln1348Ter	stop gained	-	NC_000001.11:g.223005439C>T	ExAC,TOPMed,gnomAD
COSM904365	p.Ser1350Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005446C>A	NCI-TCGA Cosmic
rs1298365713	p.Ser1350Phe	missense variant	-	NC_000001.11:g.223005446C>T	gnomAD
rs775867344	p.Leu1351Met	missense variant	-	NC_000001.11:g.223005448C>A	ExAC,gnomAD
rs952023183	p.Pro1352Ser	missense variant	-	NC_000001.11:g.223005451C>T	TOPMed,gnomAD
rs749610405	p.Asn1354Ile	missense variant	-	NC_000001.11:g.223005458A>T	ExAC,TOPMed,gnomAD
rs1337594863	p.Phe1355Val	missense variant	-	NC_000001.11:g.223005460T>G	gnomAD
rs774846237	p.Phe1355Cys	missense variant	-	NC_000001.11:g.223005461T>G	ExAC,gnomAD
rs761990609	p.Phe1356Leu	missense variant	-	NC_000001.11:g.223005463T>C	ExAC,TOPMed,gnomAD
rs773225361	p.Leu1357Phe	missense variant	-	NC_000001.11:g.223005466C>T	ExAC,gnomAD
rs1246547595	p.His1358Tyr	missense variant	-	NC_000001.11:g.223005469C>T	NCI-TCGA Cosmic
rs760772361	p.His1358Arg	missense variant	-	NC_000001.11:g.223005470A>G	ExAC,gnomAD
rs1246547595	p.His1358Tyr	missense variant	-	NC_000001.11:g.223005469C>T	gnomAD
rs1175560522	p.Gln1361Leu	missense variant	-	NC_000001.11:g.223005479A>T	gnomAD
rs1259698969	p.His1362Leu	missense variant	-	NC_000001.11:g.223005482A>T	gnomAD
rs907966375	p.Lys1368Arg	missense variant	-	NC_000001.11:g.223005500A>G	TOPMed
rs753729422	p.Ile1369Thr	missense variant	-	NC_000001.11:g.223005503T>C	ExAC,gnomAD
rs753729422	p.Ile1369Asn	missense variant	-	NC_000001.11:g.223005503T>A	ExAC,gnomAD
rs1217182971	p.Thr1372Asn	missense variant	-	NC_000001.11:g.223005512C>A	gnomAD
rs966094631	p.Asn1373Ser	missense variant	-	NC_000001.11:g.223005515A>G	TOPMed,gnomAD
rs966094631	p.Asn1373Ile	missense variant	-	NC_000001.11:g.223005515A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Asn1373Lys	missense variant	-	NC_000001.11:g.223005516T>A	NCI-TCGA
rs1353892860	p.Val1374Ala	missense variant	-	NC_000001.11:g.223005518T>C	TOPMed
NCI-TCGA novel	p.Leu1377Ile	missense variant	-	NC_000001.11:g.223005526C>A	NCI-TCGA
rs1311223877	p.Gln1378Pro	missense variant	-	NC_000001.11:g.223005530A>C	TOPMed
rs1444244913	p.Arg1379Lys	missense variant	-	NC_000001.11:g.223005533G>A	TOPMed
rs1335148087	p.Ser1380Gly	missense variant	-	NC_000001.11:g.223005535A>G	TOPMed
rs368932347	p.Ser1380Asn	missense variant	-	NC_000001.11:g.223005536G>A	ESP,ExAC,TOPMed,gnomAD
rs368932347	p.Ser1380Ile	missense variant	-	NC_000001.11:g.223005536G>T	ESP,ExAC,TOPMed,gnomAD
rs756843012	p.Ile1381Lys	missense variant	-	NC_000001.11:g.223005539T>A	ExAC,gnomAD
rs746454664	p.Ile1381Val	missense variant	-	NC_000001.11:g.223005538A>G	ExAC,gnomAD
rs1047026561	p.Glu1382Asp	missense variant	-	NC_000001.11:g.223005543A>T	TOPMed,gnomAD
rs780813634	p.Glu1382Ter	stop gained	-	NC_000001.11:g.223005541G>T	ExAC,gnomAD
rs1216066535	p.His1384Tyr	missense variant	-	NC_000001.11:g.223005547C>T	TOPMed,gnomAD
rs749754282	p.His1384Arg	missense variant	-	NC_000001.11:g.223005548A>G	ExAC,gnomAD
rs1274071713	p.Leu1385Pro	missense variant	-	NC_000001.11:g.223005551T>C	gnomAD
rs140794097	p.Ser1392Leu	missense variant	-	NC_000001.11:g.223005572C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1392Pro	missense variant	-	NC_000001.11:g.223005571T>C	NCI-TCGA
NCI-TCGA novel	p.Val1395CysPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.223005576_223005577insT	NCI-TCGA
rs1190208202	p.Ser1398Arg	missense variant	-	NC_000001.11:g.223005589A>C	TOPMed
RCV000203143	p.Ser1398Asn	missense variant	-	NC_000001.11:g.223005590G>A	ClinVar
rs864309626	p.Ser1398Asn	missense variant	-	NC_000001.11:g.223005590G>A	-
rs535953365	p.Thr1399Ile	missense variant	-	NC_000001.11:g.223005593C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs770897795	p.Gly1400Ala	missense variant	-	NC_000001.11:g.223005596G>C	ExAC,gnomAD
rs770897795	p.Gly1400Glu	missense variant	-	NC_000001.11:g.223005596G>A	ExAC,gnomAD
COSM904366	p.Ser1401Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005599C>T	NCI-TCGA Cosmic
rs1418528461	p.Leu1402Phe	missense variant	-	NC_000001.11:g.223005603A>T	gnomAD
rs1418528461	p.Leu1402Phe	missense variant	-	NC_000001.11:g.223005603A>C	gnomAD
rs1440755547	p.Leu1403Phe	missense variant	-	NC_000001.11:g.223005604C>T	gnomAD
rs776835311	p.Thr1405Met	missense variant	-	NC_000001.11:g.223005611C>T	NCI-TCGA,NCI-TCGA Cosmic
rs776835311	p.Thr1405Met	missense variant	-	NC_000001.11:g.223005611C>T	ExAC,gnomAD
rs372648781	p.Cys1406Tyr	missense variant	-	NC_000001.11:g.223005614G>A	ESP,ExAC,TOPMed,gnomAD
rs372648781	p.Cys1406Ser	missense variant	-	NC_000001.11:g.223005614G>C	ESP,ExAC,TOPMed,gnomAD
rs372648781	p.Cys1406Phe	missense variant	-	NC_000001.11:g.223005614G>T	ESP,ExAC,TOPMed,gnomAD
rs763783431	p.Asp1408Gly	missense variant	-	NC_000001.11:g.223005620A>G	ExAC,gnomAD
rs375930920	p.Asp1408Tyr	missense variant	-	NC_000001.11:g.223005619G>T	ESP,ExAC,TOPMed,gnomAD
rs375930920	p.Asp1408Asn	missense variant	-	NC_000001.11:g.223005619G>A	ESP,ExAC,TOPMed,gnomAD
COSM6061735	p.Pro1409Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005622C>A	NCI-TCGA Cosmic
rs148545972	p.Glu1410Lys	missense variant	-	NC_000001.11:g.223005625G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM280400	p.Glu1410Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005627G>T	NCI-TCGA Cosmic
rs148545972	p.Glu1410Lys	missense variant	-	NC_000001.11:g.223005625G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs949126146	p.Asn1411Ser	missense variant	-	NC_000001.11:g.223005629A>G	TOPMed
NCI-TCGA novel	p.Lys1412Glu	missense variant	-	NC_000001.11:g.223005631A>G	NCI-TCGA
rs1239345647	p.Gln1413Lys	missense variant	-	NC_000001.11:g.223005634C>A	TOPMed,gnomAD
COSM5754353	p.Arg1414Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005638G>T	NCI-TCGA Cosmic
rs780537309	p.Glu1415Asp	missense variant	-	NC_000001.11:g.223005642A>C	ExAC,gnomAD
rs184692250	p.Cys1417Arg	missense variant	-	NC_000001.11:g.223005646T>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM3804018	p.Arg1420Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005656G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp1421ArgPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.223005655_223005656AG>-	NCI-TCGA
rs748442304	p.Val1422Met	missense variant	-	NC_000001.11:g.223005661G>A	NCI-TCGA
rs748442304	p.Val1422Met	missense variant	-	NC_000001.11:g.223005661G>A	ExAC,TOPMed,gnomAD
COSM1560270	p.Ser1423Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005666C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser1423Asn	missense variant	-	NC_000001.11:g.223005665G>A	NCI-TCGA
rs772437730	p.Glu1426Gln	missense variant	-	NC_000001.11:g.223005673G>C	ExAC,gnomAD
rs1474318620	p.Ser1427Asn	missense variant	-	NC_000001.11:g.223005677G>A	gnomAD
rs1195224040	p.Ser1427Arg	missense variant	-	NC_000001.11:g.223005678C>A	gnomAD
rs1180963823	p.Gly1429Ala	missense variant	-	NC_000001.11:g.223005683G>C	gnomAD
rs778164331	p.Gly1429Arg	missense variant	-	NC_000001.11:g.223005682G>A	NCI-TCGA
rs778164331	p.Gly1429Arg	missense variant	-	NC_000001.11:g.223005682G>A	ExAC,gnomAD
rs1171267449	p.Gly1430Ala	missense variant	-	NC_000001.11:g.223005686G>C	gnomAD
rs771237562	p.Asn1433Ile	missense variant	-	NC_000001.11:g.223005695A>T	ExAC,gnomAD
rs1402991108	p.Lys1434Arg	missense variant	-	NC_000001.11:g.223005698A>G	gnomAD
NCI-TCGA novel	p.Gly1436GluPheSerTerUnk	frameshift	-	NC_000001.11:g.223005703G>-	NCI-TCGA
rs776528560	p.Leu1441Val	missense variant	-	NC_000001.11:g.223005718C>G	ExAC,gnomAD
rs1472114570	p.Leu1441Pro	missense variant	-	NC_000001.11:g.223005719T>C	TOPMed
rs759695907	p.Leu1443Phe	missense variant	-	NC_000001.11:g.223005726G>T	ExAC,TOPMed,gnomAD
rs769555149	p.Thr1446Met	missense variant	-	NC_000001.11:g.223005734C>T	ExAC,TOPMed,gnomAD
rs1264965051	p.Asp1447Asn	missense variant	-	NC_000001.11:g.223005736G>A	TOPMed
rs1446002472	p.Ser1449Gly	missense variant	-	NC_000001.11:g.223005742A>G	TOPMed
rs1273219315	p.Ser1449Thr	missense variant	-	NC_000001.11:g.223005743G>C	gnomAD
rs1290329622	p.Val1450Gly	missense variant	-	NC_000001.11:g.223005746T>G	TOPMed
rs763978032	p.Asn1451Thr	missense variant	-	NC_000001.11:g.223005749A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser1452Leu	missense variant	-	NC_000001.11:g.223005752C>T	NCI-TCGA
rs751442180	p.His1454Arg	missense variant	-	NC_000001.11:g.223005758A>G	ExAC,gnomAD
rs761349550	p.Gln1457His	missense variant	-	NC_000001.11:g.223005768G>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro1460Ser	missense variant	-	NC_000001.11:g.223005775C>T	NCI-TCGA
NCI-TCGA novel	p.Pro1460Leu	missense variant	-	NC_000001.11:g.223005776C>T	NCI-TCGA
rs767221546	p.Val1462Leu	missense variant	-	NC_000001.11:g.223005781G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu1463Ile	missense variant	-	NC_000001.11:g.223005784C>A	NCI-TCGA
NCI-TCGA novel	p.Phe1464LeuPheSerTerUnk	frameshift	-	NC_000001.11:g.223005787T>-	NCI-TCGA
rs574804436	p.Asn1465Thr	missense variant	-	NC_000001.11:g.223005791A>C	1000Genomes,gnomAD
rs574804436	p.Asn1465Ser	missense variant	-	NC_000001.11:g.223005791A>G	1000Genomes,gnomAD
rs1234160630	p.His1466Asn	missense variant	-	NC_000001.11:g.223005793C>A	TOPMed,gnomAD
rs1234160630	p.His1466Tyr	missense variant	-	NC_000001.11:g.223005793C>T	TOPMed,gnomAD
rs755652972	p.Leu1467Ter	stop gained	-	NC_000001.11:g.223005797T>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu1467Val	missense variant	-	NC_000001.11:g.223005796T>G	NCI-TCGA
rs1157440062	p.Met1468Val	missense variant	-	NC_000001.11:g.223005799A>G	gnomAD
NCI-TCGA novel	p.Glu1470GlyPheSerTerUnk	frameshift	-	NC_000001.11:g.223005800_223005801insG	NCI-TCGA
rs1407895828	p.Glu1470Lys	missense variant	-	NC_000001.11:g.223005805G>A	gnomAD
rs779331685	p.Ala1471Pro	missense variant	-	NC_000001.11:g.223005808G>C	ExAC,gnomAD
COSM463988	p.Arg1474Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005818G>T	NCI-TCGA Cosmic
rs753187333	p.Pro1477Ser	missense variant	-	NC_000001.11:g.223005826C>T	ExAC,gnomAD
rs976555303	p.Asn1478Asp	missense variant	-	NC_000001.11:g.223005829A>G	TOPMed
COSM1339109	p.Asn1479Thr	inframe deletion	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005833_223005835ATT>-	NCI-TCGA Cosmic
rs1321858480	p.Gln1481Arg	missense variant	-	NC_000001.11:g.223005839A>G	gnomAD
rs1337717746	p.Ser1482Gly	missense variant	-	NC_000001.11:g.223005841A>G	gnomAD
rs1278976909	p.Cys1483Arg	missense variant	-	NC_000001.11:g.223005844T>C	TOPMed,gnomAD
rs778076307	p.Cys1483Tyr	missense variant	-	NC_000001.11:g.223005845G>A	ExAC,TOPMed,gnomAD
rs747426432	p.Gly1484Ala	missense variant	-	NC_000001.11:g.223005848G>C	ExAC,TOPMed,gnomAD
rs771022524	p.Arg1485Gly	missense variant	-	NC_000001.11:g.223005850A>G	ExAC,gnomAD
COSM679430	p.Ile1486Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005853A>T	NCI-TCGA Cosmic
rs1207793873	p.Val1489Met	missense variant	-	NC_000001.11:g.223005862G>A	gnomAD
NCI-TCGA novel	p.Val1489Leu	missense variant	-	NC_000001.11:g.223005862G>C	NCI-TCGA
rs769904969	p.Asn1492Ser	missense variant	-	NC_000001.11:g.223005872A>G	ExAC,TOPMed,gnomAD
rs745880424	p.Asn1492His	missense variant	-	NC_000001.11:g.223005871A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1493Tyr	missense variant	-	NC_000001.11:g.223005875C>A	NCI-TCGA
rs775781701	p.Asn1500Asp	missense variant	-	NC_000001.11:g.223005895A>G	ExAC,gnomAD
COSM269018	p.Asn1500Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005896A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn1500Thr	missense variant	-	NC_000001.11:g.223005896A>C	NCI-TCGA
rs749206498	p.Met1501Arg	missense variant	-	NC_000001.11:g.223005899T>G	ExAC,TOPMed
rs769713960	p.Asn1504Ser	missense variant	-	NC_000001.11:g.223005908A>G	gnomAD
rs769713960	p.Asn1504Thr	missense variant	-	NC_000001.11:g.223005908A>C	gnomAD
COSM4028561	p.Val1505Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.223005910G>A	NCI-TCGA Cosmic
rs1419156058	p.Val1505Ala	missense variant	-	NC_000001.11:g.223005911T>C	gnomAD
NCI-TCGA novel	p.Pro1506His	missense variant	-	NC_000001.11:g.223005914C>A	NCI-TCGA
rs377366887	p.Val1508Leu	missense variant	-	NC_000001.11:g.223005919G>C	ESP,ExAC,TOPMed,gnomAD
rs761698778	p.His1511Arg	missense variant	-	NC_000001.11:g.223005929A>G	ExAC,gnomAD
rs761698778	p.His1511Leu	missense variant	-	NC_000001.11:g.223005929A>T	ExAC,gnomAD
rs767009595	p.Ser1512Trp	missense variant	-	NC_000001.11:g.223005932C>G	ExAC,TOPMed,gnomAD
rs767009595	p.Ser1512Leu	missense variant	-	NC_000001.11:g.223005932C>T	ExAC,TOPMed,gnomAD
rs1190787612	p.Ser1515Pro	missense variant	-	NC_000001.11:g.223005940T>C	TOPMed
rs753382335	p.Glu1517Gly	missense variant	-	NC_000001.11:g.223005947A>G	ExAC,gnomAD
rs758857129	p.Ser1518Thr	missense variant	-	NC_000001.11:g.223005950G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu1519Val	missense variant	-	NC_000001.11:g.223005952T>G	NCI-TCGA
rs368507546	p.Leu1520Ter	stop gained	-	NC_000001.11:g.223005956T>G	ESP,ExAC,TOPMed,gnomAD
rs368507546	p.Leu1520Ser	missense variant	-	NC_000001.11:g.223005956T>C	ESP,ExAC,TOPMed,gnomAD
rs751806386	p.Lys1522Ter	stop gained	-	NC_000001.11:g.223005961A>T	ExAC,TOPMed,gnomAD
rs751806386	p.Lys1522Glu	missense variant	-	NC_000001.11:g.223005961A>G	ExAC,TOPMed,gnomAD
rs746100916	p.Ter1525Gln	stop lost	-	NC_000001.11:g.223005970T>C	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0079541	Holoprosencephaly	disease	BEFREE;GENOMICS_ENGLAND
C0238198	Gastrointestinal Stromal Tumors	group	CTD_human
C0431362	Lobar Holoprosencephaly	disease	ORPHANET
C0431363	Alobar Holoprosencephaly	disease	ORPHANET
C0751617	Semilobar Holoprosencephaly	disease	ORPHANET
C3179349	Gastrointestinal Stromal Sarcoma	disease	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:1904680	peptide transmembrane transporter activity	ISS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007225	patched ligand maturation	IEA
GO:0007368	determination of left/right symmetry	IEA
GO:0009880	embryonic pattern specification	IEA
GO:0009953	dorsal/ventral pattern formation	IEA
GO:0015833	peptide transport	ISS
GO:0050708	regulation of protein secretion	ISS
GO:0060539	diaphragm development	IMP
GO:0070207	protein homotrimerization	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0016021	integral component of membrane	IEA
GO:0016323	basolateral plasma membrane	ISS

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C472829	1-(2-cyano-3,12-dioxooleana-1,9-dien-28-oyl) imidazole	1-(2-cyano-3,12-dioxooleana-1,9-dien-28-oyl) imidazole results in increased expression of DISP1 mRNA	27071940
C472829	1-(2-cyano-3,12-dioxooleana-1,9-dien-28-oyl) imidazole	NFE2L2 gene mutant form inhibits the reaction [1-(2-cyano-3,12-dioxooleana-1,9-dien-28-oyl) imidazole results in increased expression of DISP1 mRNA]	27071940
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of DISP1 mRNA	30723492
C029141	2,2,5,7,8-pentamethyl-1-hydroxychroman	2,2,5,7,8-pentamethyl-1-hydroxychroman results in increased expression of DISP1 mRNA	21920950
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of DISP1 mRNA	21346803
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A 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 DISP1 mRNA	27188386
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 DISP1 mRNA	27188386
C035207	4-amino-2,6-dinitrotoluene	4-amino-2,6-dinitrotoluene affects the expression of DISP1 mRNA	21346803
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of DISP1 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of DISP1 intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of DISP1 mRNA	23630614; 25378103;
D000661	Amphetamine	Amphetamine results in decreased expression of DISP1 mRNA	30779732
C547126	AZM551248	AZM551248 results in increased expression of DISP1 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased mutagenesis of DISP1 gene	25435355
C006780	bisphenol A	bisphenol A affects the expression of DISP1 mRNA	21786754
C006780	bisphenol A	bisphenol A affects the methylation of DISP1 intron	30906313
C006780	bisphenol A	bisphenol A results in increased methylation of DISP1 promoter	30906313
C006780	bisphenol A	bisphenol A results in increased expression of DISP1 mRNA	29275510
C006780	bisphenol A	bisphenol A results in decreased expression of DISP1 mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased expression of DISP1 mRNA	25181051
C038091	butylparaben	butylparaben results in increased expression of DISP1 mRNA	29458080
D002117	Calcitriol	Calcitriol results in increased expression of DISP1 mRNA	21592394
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in increased expression of DISP1 mRNA	21592394
D002220	Carbamazepine	Carbamazepine affects the expression of DISP1 mRNA	25979313
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of DISP1 mRNA	31150632
D016572	Cyclosporine	Cyclosporine results in increased expression of DISP1 mRNA	27989131
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A 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 DISP1 mRNA	27188386
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 DISP1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of DISP1 mRNA	29803840
D013759	Dronabinol	Dronabinol affects the methylation of DISP1 gene	26044905
C118739	entinostat	entinostat results in increased expression of DISP1 mRNA	27188386
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of DISP1 mRNA	22079256
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of DISP1 mRNA	23649840
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of DISP1 gene	15755804; 16724327;
D017313	Fenretinide	Fenretinide results in decreased expression of DISP1 mRNA	28973697
C082360	fipronil	fipronil results in decreased expression of DISP1 mRNA	23962444
D005557	Formaldehyde	Formaldehyde results in increased expression of DISP1 mRNA	23649840
C039281	furan	furan results in increased expression of DISP1 mRNA	25539665
C492448	ICG 001	ICG 001 results in increased expression of DISP1 mRNA	26191083
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of DISP1 mRNA	25613284
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of DISP1 mRNA	26011545
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of DISP1 mRNA	23649840
D009532	Nickel	Nickel results in decreased expression of DISP1 mRNA	24768652; 25583101;
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of DISP1 mRNA	20188158
D010126	Ozone	Ozone results in decreased expression of DISP1 mRNA	28623178
C568608	PCI 5002	[PCI 5002 co-treated with Zinc] results in increased expression of DISP1 mRNA	18593933
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of DISP1 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of DISP1 mRNA	22079256
D012402	Rotenone	Rotenone results in increased expression of DISP1 mRNA	28374803
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of DISP1 mRNA	25895662
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in increased expression of DISP1 mRNA	21592394
D013739	Testosterone	Testosterone results in increased expression of DISP1 mRNA	21592394
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of DISP1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of DISP1 mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of DISP1 mRNA	21724226
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of DISP1 mRNA	25613284
D013853	Thioacetamide	Thioacetamide results in increased expression of DISP1 mRNA	23411599
C012589	trichostatin A	[NOG protein co-treated with trichostatin A 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 DISP1 mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of DISP1 mRNA	24935251; 26272509;
D014520	Urethane	Urethane results in increased expression of DISP1 mRNA	28818685
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 DISP1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of DISP1 mRNA	23179753; 24935251; 26272509; 27188386; 29154799;
D015032	Zinc	[PCI 5002 co-treated with Zinc] results in increased expression of DISP1 mRNA	18593933

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0217	Developmental protein
KW-0325	Glycoprotein
KW-0472	Membrane
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR003392	Ptc/Disp
IPR000731	SSD

PROSITE

PROSITE ID	PROSITE Term
PS50156	SSD

Pfam

Pfam ID	Pfam Term
PF02460	Patched

Gene: DISP1

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