CleftGeneDB-Search

Gene: ADGRL2

Basic information

Tag	Content
Uniprot ID	O95490; A5XEI2; B1ALT8; B1ALT9; B1ALU0; B1ALU2; B1ALU4; B1ALU5; B1ALU6; O94882; Q5VX76; Q9UKY5; Q9UKY6;
Entrez ID	23266
Genbank protein ID	EAX06339.1; EAX06327.1; AAD54677.1; ABL59902.1; CAA10458.1; EAX06330.1; AAD54676.1; EAX06333.1; BAA34506.1; EAX06335.1; AAD54675.1; CAB60229.1; EAX06336.1;
Genbank nucleotide ID	NM_001297705.1; NM_001330645.1; XM_005270666.4; NM_001297704.1; XM_017000787.1; NM_001297706.1; NM_012302.3;
Ensembl protein ID	ENSP00000359748; ENSP00000359750; ENSP00000359752; ENSP00000322270; ENSP00000359763; ENSP00000359760; ENSP00000359758; ENSP00000359765; ENSP00000353006;
Ensembl nucleotide ID	ENSG00000117114
Gene name	Adhesion G protein-coupled receptor L2
Gene symbol	ADGRL2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26868259
Functional description	Calcium-independent receptor of low affinity for alpha-latrotoxin, an excitatory neurotoxin present in black widow spider venom which triggers massive exocytosis from neurons and neuroendocrine cells. Receptor probably implicated in the regulation of exocytosis.
Sequence	MVSSGCRMRS LWFIIVISFL PNTEGFSRAA LPFGLVRREL SCEGYSIDLR CPGSDVIMIE 60 SANYGRTDDK ICDADPFQME NTDCYLPDAF KIMTQRCNNR TQCIVVTGSD VFPDPCPGTY 120 KYLEVQYECV PYIFVCPGTL KAIVDSPCIY EAEQKAGAWC KDPLQAADKI YFMPWTPYRT 180 DTLIEYASLE DFQNSRQTTT YKLPNRVDGT GFVVYDGAVF FNKERTRNIV KFDLRTRIKS 240 GEAIINYANY HDTSPYRWGG KTDIDLAVDE NGLWVIYATE QNNGMIVISQ LNPYTLRFEA 300 TWETVYDKRA ASNAFMICGV LYVVRSVYQD NESETGKNSI DYIYNTRLNR GEYVDVPFPN 360 QYQYIAAVDY NPRDNQLYVW NNNFILRYSL EFGPPDPAQV PTTAVTITSS AELFKTIIST 420 TSTTSQKGPM STTVAGSQEG SKGTKPPPAV STTKIPPITN IFPLPERFCE ALDSKGIKWP 480 QTQRGMMVER PCPKGTRGTA SYLCMISTGT WNPKGPDLSN CTSHWVNQLA QKIRSGENAA 540 SLANELAKHT KGPVFAGDVS SSVRLMEQLV DILDAQLQEL KPSEKDSAGR SYNKLQKREK 600 TCRAYLKAIV DTVDNLLRPE ALESWKHMNS SEQAHTATML LDTLEEGAFV LADNLLEPTR 660 VSMPTENIVL EVAVLSTEGQ IQDFKFPLGI KGAGSSIQLS ANTVKQNSRN GLAKLVFIIY 720 RSLGQFLSTE NATIKLGADF IGRNSTIAVN SHVISVSINK ESSRVYLTDP VLFTLPHIDP 780 DNYFNANCSF WNYSERTMMG YWSTQGCKLV DTNKTRTTCA CSHLTNFAIL MAHREIAYKD 840 GVHELLLTVI TWVGIVISLV CLAICIFTFC FFRGLQSDRN TIHKNLCINL FIAEFIFLIG 900 IDKTKYAIAC PIFAGLLHFF FLAAFAWMCL EGVQLYLMLV EVFESEYSRK KYYYVAGYLF 960 PATVVGVSAA IDYKSYGTEK ACWLHVDNYF IWSFIGPVTF IILLNIIFLV ITLCKMVKHS 1020 NTLKPDSSRL ENIKSWVLGA FALLCLLGLT WSFGLLFINE ETIVMAYLFT IFNAFQGVFI 1080 FIFHCALQKK VRKEYGKCFR HSYCCGGLPT ESPHSSVKAS TTRTSARYSS GTQSRIRRMW 1140 NDTVRKQSES SFISGDINST STLNQGMTGN YLLTNPLLRP HGTNNPYNTL LAETVVCNAP 1200 SAPVFNSPGH SLNNARDTSA MDTLPLNGNF NNSYSLHKGD YNDSVQVVDC GLSLNDTAFE 1260 KMIISELVHN NLRGSSKTHN LELTLPVKPV IGGSSSEDDA IVADASSLMH SDNPGLELHH 1320 KELEAPLIPQ RTHSLLYQPQ KKVKSEGTDS YVSQLTAEAE DHLQSPNRDS LYTSMPNLRD 1380 SPYPESSPDM EEDLSPSRRS ENEDIYYKSM PNLGAGHQLQ MCYQISRGNS DGYIIPINKE 1440 GCIPEGDVRE GQMQLVTSL 1459

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 in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	ADGRL2		A0A3Q1MQ77	Bos taurus	Prediction	More>>
1:1 ortholog	ADGRL2		E2RKN9	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ADGRL2		A0A452F6H6	Capra hircus	Prediction	More>>
1:1 ortholog	ADGRL2	23266	O95490	Homo sapiens	Publication	More>>
1:1 ortholog	Adgrl2		Q8JZZ7	Mus musculus	Prediction	More>>
1:1 ortholog	ADGRL2	456974	A0A2J8LKF3	Pan troglodytes	Prediction	More>>
1:1 ortholog	ADGRL2		G1T5U9	Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Adgrl2		F1M7T0	Rattus norvegicus	Prediction	More>>
1:1 ortholog	adgrl2a		A0A0R4IX48	Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
NCI-TCGA novel	p.Val2Met	missense variant	-	NC_000001.11:g.81836988G>A	NCI-TCGA
rs766277937	p.Val2Leu	missense variant	-	NC_000001.11:g.81836988G>T	ExAC,gnomAD
rs148990237	p.Ser3Phe	missense variant	-	NC_000001.11:g.81836992C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141876075	p.Met8Lys	missense variant	-	NC_000001.11:g.81837007T>A	ESP,ExAC,TOPMed,gnomAD
rs138982442	p.Arg9Gln	missense variant	-	NC_000001.11:g.81837010G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs909612501	p.Arg9Gly	missense variant	-	NC_000001.11:g.81837009C>G	gnomAD
rs774269659	p.Leu11Val	missense variant	-	NC_000001.11:g.81837015C>G	ExAC,gnomAD
COSM5126294	p.Leu11Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81837016T>C	NCI-TCGA Cosmic
rs777411293	p.Trp12Cys	missense variant	-	NC_000001.11:g.81837020G>T	ExAC
rs746491038	p.Ile14Leu	missense variant	-	NC_000001.11:g.81837024A>C	ExAC,gnomAD
rs746491038	p.Ile14Val	missense variant	-	NC_000001.11:g.81837024A>G	ExAC,gnomAD
rs777246913	p.Ile15Thr	missense variant	-	NC_000001.11:g.81837028T>C	ExAC,TOPMed,gnomAD
rs771616121	p.Ile15Val	missense variant	-	NC_000001.11:g.81837027A>G	ExAC,gnomAD
rs1338055049	p.Val16Ala	missense variant	-	NC_000001.11:g.81837031T>C	gnomAD
rs376600105	p.Val16Ile	missense variant	-	NC_000001.11:g.81837030G>A	ESP,ExAC,TOPMed,gnomAD
rs376600105	p.Val16Leu	missense variant	-	NC_000001.11:g.81837030G>C	ESP,ExAC,TOPMed,gnomAD
COSM4010088	p.Phe19Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81837039T>G	NCI-TCGA Cosmic
rs922086778	p.Pro21Thr	missense variant	-	NC_000001.11:g.81837045C>A	-
NCI-TCGA novel	p.Glu24Lys	missense variant	-	NC_000001.11:g.81837054G>A	NCI-TCGA
NCI-TCGA novel	p.Gly25Cys	missense variant	-	NC_000001.11:g.81837057G>T	NCI-TCGA
rs768961675	p.Gly25Val	missense variant	-	NC_000001.11:g.81907017G>T	ExAC,gnomAD
rs768961675	p.Gly25Asp	missense variant	-	NC_000001.11:g.81907017G>A	ExAC,gnomAD
rs1401809421	p.Ser27Asn	missense variant	-	NC_000001.11:g.81907023G>A	gnomAD
NCI-TCGA novel	p.Val36Leu	missense variant	-	NC_000001.11:g.81907049G>T	NCI-TCGA
rs774392019	p.Val36Ala	missense variant	-	NC_000001.11:g.81907050T>C	ExAC,gnomAD
rs1205992620	p.Arg37Lys	missense variant	-	NC_000001.11:g.81907053G>A	TOPMed
NCI-TCGA novel	p.Arg38Ter	stop gained	-	NC_000001.11:g.81907055C>T	NCI-TCGA
rs1195606200	p.Arg38Gln	missense variant	-	NC_000001.11:g.81907056G>A	gnomAD
COSM3492659	p.Ser41Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81907065C>A	NCI-TCGA Cosmic
COSM3492663	p.Ser41Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81907065C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp48Asn	missense variant	-	NC_000001.11:g.81907085G>A	NCI-TCGA
rs748207651	p.Leu49Val	missense variant	-	NC_000001.11:g.81907088C>G	ExAC,gnomAD
COSM212259	p.Arg50Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81907091C>T	NCI-TCGA Cosmic
rs765076851	p.Cys51Trp	missense variant	-	NC_000001.11:g.81907096C>G	ExAC,gnomAD
COSM5102079	p.Pro52Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81907098C>T	NCI-TCGA Cosmic
rs893055734	p.Ser54Arg	missense variant	-	NC_000001.11:g.81907103A>C	TOPMed
rs762626450	p.Ser54Asn	missense variant	-	NC_000001.11:g.81907104G>A	ExAC,gnomAD
rs763838900	p.Ile57Val	missense variant	-	NC_000001.11:g.81907112A>G	ExAC,gnomAD
rs1365939876	p.Met58Val	missense variant	-	NC_000001.11:g.81907115A>G	gnomAD
rs142992362	p.Ile59Val	missense variant	-	NC_000001.11:g.81907118A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769350694	p.Ser61Arg	missense variant	-	NC_000001.11:g.81907126C>A	ExAC,TOPMed,gnomAD
rs780914901	p.Ala62Thr	missense variant	-	NC_000001.11:g.81907127G>A	ExAC,gnomAD
rs536408064	p.Asn63Lys	missense variant	-	NC_000001.11:g.81907132C>A	1000Genomes,ExAC,gnomAD
COSM2243054	p.Arg66Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81907140G>A	NCI-TCGA Cosmic
COSM1320883	p.Arg66Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81907139C>G	NCI-TCGA Cosmic
rs1325228176	p.Thr67Met	missense variant	-	NC_000001.11:g.81907143C>T	gnomAD
rs756734698	p.Asp69Glu	missense variant	-	NC_000001.11:g.81907150C>G	ExAC,TOPMed,gnomAD
rs756734698	p.Asp69Glu	missense variant	-	NC_000001.11:g.81907150C>A	ExAC,TOPMed,gnomAD
COSM4832761	p.Asp69Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81907148G>A	NCI-TCGA Cosmic
rs200009196	p.Ala74Thr	missense variant	-	NC_000001.11:g.81907163G>A	1000Genomes,gnomAD
rs1362028404	p.Pro76Leu	missense variant	-	NC_000001.11:g.81907170C>T	gnomAD
rs780393998	p.Gln78His	missense variant	-	NC_000001.11:g.81907177G>C	ExAC,gnomAD
rs780393998	p.Gln78His	missense variant	-	NC_000001.11:g.81907177G>T	ExAC,gnomAD
COSM3492667	p.Gln78Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81907175C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu80Lys	missense variant	-	NC_000001.11:g.81907181G>A	NCI-TCGA
rs749691144	p.Glu80Asp	missense variant	-	NC_000001.11:g.81907183G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn81Asp	missense variant	-	NC_000001.11:g.81907184A>G	NCI-TCGA
rs779206551	p.Thr82Ala	missense variant	-	NC_000001.11:g.81907187A>G	ExAC,gnomAD
rs1263171781	p.Asp83Gly	missense variant	-	NC_000001.11:g.81907191A>G	gnomAD
rs1426710649	p.Tyr85Cys	missense variant	-	NC_000001.11:g.81907197A>G	gnomAD
rs910925879	p.Leu86Phe	missense variant	-	NC_000001.11:g.81907199C>T	gnomAD
NCI-TCGA novel	p.Asp88His	missense variant	-	NC_000001.11:g.81907205G>C	NCI-TCGA
NCI-TCGA novel	p.Asp88Gly	missense variant	-	NC_000001.11:g.81907206A>G	NCI-TCGA
NCI-TCGA novel	p.Asp88ValPheSerTerUnk	frameshift	-	NC_000001.11:g.81907206A>-	NCI-TCGA
NCI-TCGA novel	p.Asp88ArgPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.81907203_81907204insT	NCI-TCGA
rs1365207880	p.Asp88Val	missense variant	-	NC_000001.11:g.81907206A>T	gnomAD
rs1454462656	p.Asp88Glu	missense variant	-	NC_000001.11:g.81907207T>G	gnomAD
rs943585829	p.Asp88Asn	missense variant	-	NC_000001.11:g.81907205G>A	TOPMed,gnomAD
rs773340359	p.Ala89Val	missense variant	-	NC_000001.11:g.81907209C>T	ExAC
COSM5744514	p.Ile92Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81907218T>G	NCI-TCGA Cosmic
rs1382856065	p.Thr94Ser	missense variant	-	NC_000001.11:g.81907224C>G	gnomAD
rs1382218976	p.Gln95Arg	missense variant	-	NC_000001.11:g.81907227A>G	gnomAD
rs1243529387	p.Asn98Ser	missense variant	-	NC_000001.11:g.81936733A>G	TOPMed
rs776305485	p.Asn99Ser	missense variant	-	NC_000001.11:g.81936736A>G	ExAC,TOPMed,gnomAD
rs775512975	p.Arg100Ter	stop gained	-	NC_000001.11:g.81936738C>T	ExAC,TOPMed,gnomAD
COSM3866136	p.Arg100Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81936739G>A	NCI-TCGA Cosmic
rs757483540	p.Ile104Val	missense variant	-	NC_000001.11:g.81936750A>G	TOPMed,gnomAD
rs749114277	p.Val105Ile	missense variant	-	NC_000001.11:g.81936753G>A	ExAC,gnomAD
COSM3419502	p.Val105Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81936754T>C	NCI-TCGA Cosmic
rs767308892	p.Gly108Val	missense variant	-	NC_000001.11:g.81936763G>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp110Tyr	missense variant	-	NC_000001.11:g.81936768G>T	NCI-TCGA
rs772947622	p.Asp110Gly	missense variant	-	NC_000001.11:g.81936769A>G	ExAC,gnomAD
COSM1687958	p.Pro113Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81936777C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro117Ser	missense variant	-	NC_000001.11:g.81936789C>T	NCI-TCGA
COSM3492671	p.Pro117Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81936790C>T	NCI-TCGA Cosmic
rs1468753578	p.Thr119Ile	missense variant	-	NC_000001.11:g.81936796C>T	gnomAD
NCI-TCGA novel	p.Tyr120Cys	missense variant	-	NC_000001.11:g.81936799A>G	NCI-TCGA
rs1171664554	p.Gln126Ter	stop gained	-	NC_000001.11:g.81936816C>T	TOPMed
NCI-TCGA novel	p.Tyr127Cys	missense variant	-	NC_000001.11:g.81936820A>G	NCI-TCGA
COSM1581157	p.Glu128Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81936822G>T	NCI-TCGA Cosmic
rs139190382	p.Ile133Val	missense variant	-	NC_000001.11:g.81936837A>G	ESP,ExAC,TOPMed,gnomAD
COSM681966	p.Val135Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81942975T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys136Tyr	missense variant	-	NC_000001.11:g.81942978G>A	NCI-TCGA
NCI-TCGA novel	p.Gly138Val	missense variant	-	NC_000001.11:g.81942984G>T	NCI-TCGA
rs1287865261	p.Gly138Glu	missense variant	-	NC_000001.11:g.81942984G>A	gnomAD
rs144007597	p.Thr139Ile	missense variant	-	NC_000001.11:g.81942987C>T	ESP,ExAC,TOPMed,gnomAD
rs780721378	p.Asp145Asn	missense variant	-	NC_000001.11:g.81943004G>A	ExAC
rs1302713884	p.Asp145Val	missense variant	-	NC_000001.11:g.81943005A>T	TOPMed
rs745459122	p.Pro147Thr	missense variant	-	NC_000001.11:g.81943010C>A	ExAC,TOPMed,gnomAD
rs1344863320	p.Cys148Arg	missense variant	-	NC_000001.11:g.81943013T>C	TOPMed,gnomAD
rs1327074872	p.Cys148Tyr	missense variant	-	NC_000001.11:g.81943014G>A	TOPMed
rs775041759	p.Ile149Val	missense variant	-	NC_000001.11:g.81943016A>G	ExAC,TOPMed,gnomAD
COSM1344471	p.Tyr150Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943020A>G	NCI-TCGA Cosmic
rs182862761	p.Glu151Ala	missense variant	-	NC_000001.11:g.81943023A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1250511692	p.Ala152Gly	missense variant	-	NC_000001.11:g.81943026C>G	gnomAD
rs769181656	p.Ala152Thr	missense variant	-	NC_000001.11:g.81943025G>A	ExAC,gnomAD
COSM3492679	p.Glu153Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943028G>A	NCI-TCGA Cosmic
rs1200889861	p.Gln154His	missense variant	-	NC_000001.11:g.81943033A>C	gnomAD
rs1159475329	p.Ala156Pro	missense variant	-	NC_000001.11:g.81943037G>C	gnomAD
rs200377136	p.Ala156Val	missense variant	-	NC_000001.11:g.81943038C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly157Asp	missense variant	-	NC_000001.11:g.81943041G>A	NCI-TCGA
rs1168327055	p.Gly157Ser	missense variant	-	NC_000001.11:g.81943040G>A	gnomAD
rs1398337913	p.Ala158Thr	missense variant	-	NC_000001.11:g.81943043G>A	gnomAD
COSM6127514	p.Ala158Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943044C>A	NCI-TCGA Cosmic
rs761033313	p.Cys160Trp	missense variant	-	NC_000001.11:g.81943051C>G	ExAC,gnomAD
rs187930349	p.Cys160Phe	missense variant	-	NC_000001.11:g.81943050G>T	1000Genomes,ExAC
rs1307653586	p.Lys161Glu	missense variant	-	NC_000001.11:g.81943052A>G	gnomAD
NCI-TCGA novel	p.Gln165Glu	missense variant	-	NC_000001.11:g.81943064C>G	NCI-TCGA
COSM6127510	p.Gln165His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943066G>T	NCI-TCGA Cosmic
rs1299230639	p.Ala166Gly	missense variant	-	NC_000001.11:g.81943068C>G	gnomAD
rs754013841	p.Ala166Ser	missense variant	-	NC_000001.11:g.81943067G>T	ExAC,gnomAD
COSM6064216	p.Ile170Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943080T>C	NCI-TCGA Cosmic
COSM912459	p.Ile170Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943081T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe172Leu	missense variant	-	NC_000001.11:g.81943087C>G	NCI-TCGA
rs777597517	p.Met173Val	missense variant	-	NC_000001.11:g.81943088A>G	ExAC,gnomAD
COSM6127506	p.Met173Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943090G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp175Arg	missense variant	-	NC_000001.11:g.81943094T>A	NCI-TCGA
rs1403318124	p.Thr176Ser	missense variant	-	NC_000001.11:g.81943097A>T	gnomAD
NCI-TCGA novel	p.Pro177Leu	missense variant	-	NC_000001.11:g.81943101C>T	NCI-TCGA
rs752679138	p.Arg179Cys	missense variant	-	NC_000001.11:g.81943106C>T	ExAC,gnomAD
rs1204800213	p.Arg179Leu	missense variant	-	NC_000001.11:g.81943107G>T	TOPMed,gnomAD
COSM1735475	p.Arg179His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943107G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr180Ala	missense variant	-	NC_000001.11:g.81943109A>G	NCI-TCGA
rs755815823	p.Asp181Tyr	missense variant	-	NC_000001.11:g.81943112G>T	ExAC,TOPMed,gnomAD
rs755815823	p.Asp181Asn	missense variant	-	NC_000001.11:g.81943112G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr182Ser	missense variant	-	NC_000001.11:g.81943115A>T	NCI-TCGA
rs748818234	p.Leu183Val	missense variant	-	NC_000001.11:g.81943118T>G	ExAC,gnomAD
rs1264621310	p.Ile184Thr	missense variant	-	NC_000001.11:g.81943122T>C	gnomAD
NCI-TCGA novel	p.Glu185Gln	missense variant	-	NC_000001.11:g.81943124G>C	NCI-TCGA
rs768154117	p.Glu185Asp	missense variant	-	NC_000001.11:g.81943126A>C	ExAC,gnomAD
rs774724301	p.Ala187Ser	missense variant	-	NC_000001.11:g.81943130G>T	ExAC,TOPMed,gnomAD
rs1374649493	p.Leu189Val	missense variant	-	NC_000001.11:g.81943136T>G	gnomAD
rs748752495	p.Glu190Lys	missense variant	-	NC_000001.11:g.81943139G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp191His	missense variant	-	NC_000001.11:g.81943142G>C	NCI-TCGA
rs1167668750	p.Asp191Glu	missense variant	-	NC_000001.11:g.81943144T>G	gnomAD
rs773672775	p.Phe192Leu	missense variant	-	NC_000001.11:g.81943147C>G	ExAC,TOPMed,gnomAD
rs201538464	p.Phe192Cys	missense variant	-	NC_000001.11:g.81943146T>G	1000Genomes,ExAC,gnomAD
rs1026922526	p.Asn194Ser	missense variant	-	NC_000001.11:g.81943152A>G	TOPMed,gnomAD
rs761088337	p.Ser195Cys	missense variant	-	NC_000001.11:g.81943154A>T	ExAC,gnomAD
rs577293051	p.Arg196His	missense variant	-	NC_000001.11:g.81943158G>A	1000Genomes,ExAC,gnomAD
rs1041419067	p.Arg196Cys	missense variant	-	NC_000001.11:g.81943157C>T	TOPMed,gnomAD
rs759705946	p.Tyr201His	missense variant	-	NC_000001.11:g.81943172T>C	ExAC,gnomAD
rs1263229653	p.Leu203Phe	missense variant	-	NC_000001.11:g.81943178C>T	gnomAD
rs1487870704	p.Arg206Ter	stop gained	-	NC_000001.11:g.81943187C>T	gnomAD
COSM1687962	p.Arg206Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943188G>A	NCI-TCGA Cosmic
COSM5847363	p.Gly211Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943203G>A	NCI-TCGA Cosmic
rs1463456233	p.Val213Ala	missense variant	-	NC_000001.11:g.81943209T>C	gnomAD
rs1385609600	p.Tyr215Cys	missense variant	-	NC_000001.11:g.81943215A>G	gnomAD
rs865853749	p.Asp216Asn	missense variant	-	NC_000001.11:g.81943217G>A	gnomAD
NCI-TCGA novel	p.Gly217Ser	missense variant	-	NC_000001.11:g.81943220G>A	NCI-TCGA
rs1051598019	p.Gly217Asp	missense variant	-	NC_000001.11:g.81943221G>A	TOPMed
rs767336672	p.Ala218Thr	missense variant	-	NC_000001.11:g.81943223G>A	ExAC,gnomAD
rs1454383700	p.Val219Ile	missense variant	-	NC_000001.11:g.81943226G>A	gnomAD
rs1360355130	p.Phe220Leu	missense variant	-	NC_000001.11:g.81943231C>A	TOPMed
rs1387132521	p.Phe220Ser	missense variant	-	NC_000001.11:g.81943230T>C	gnomAD
rs750247592	p.Phe220Ile	missense variant	-	NC_000001.11:g.81943229T>A	ExAC,gnomAD
rs755853238	p.Phe221Tyr	missense variant	-	NC_000001.11:g.81943233T>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr226Ala	missense variant	-	NC_000001.11:g.81943247A>G	NCI-TCGA
rs1229743701	p.Thr226Met	missense variant	-	NC_000001.11:g.81943248C>T	gnomAD
COSM3492695	p.Arg227Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943251G>A	NCI-TCGA Cosmic
rs372512578	p.Phe232Leu	missense variant	-	NC_000001.11:g.81943267T>A	ESP
rs146694157	p.Phe232Tyr	missense variant	-	NC_000001.11:g.81943266T>A	ESP,ExAC,TOPMed,gnomAD
rs1436024502	p.Arg235Ser	missense variant	-	NC_000001.11:g.81943276G>T	TOPMed
rs144043060	p.Arg237Ser	missense variant	-	NC_000001.11:g.81943282A>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu242AspPheSerTerUnk	frameshift	-	NC_000001.11:g.81943296_81943297insCTATTTT	NCI-TCGA
rs1484112964	p.Glu242Lys	missense variant	-	NC_000001.11:g.81943295G>A	gnomAD
NCI-TCGA novel	p.Ala243Val	missense variant	-	NC_000001.11:g.81943299C>T	NCI-TCGA
NCI-TCGA novel	p.Ile245AlaPhe	insertion	-	NC_000001.11:g.81943306_81943307insGCTTTC	NCI-TCGA
rs1285557510	p.Tyr247His	missense variant	-	NC_000001.11:g.81943310T>C	TOPMed
COSM5742730	p.Ala248Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943313G>A	NCI-TCGA Cosmic
rs561209754	p.Tyr250His	missense variant	-	NC_000001.11:g.81943319T>C	1000Genomes,ExAC,gnomAD
COSM1126939	p.Tyr250Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943320A>G	NCI-TCGA Cosmic
COSM6127502	p.His251Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943323A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr253Ala	missense variant	-	NC_000001.11:g.81943328A>G	NCI-TCGA
NCI-TCGA novel	p.Tyr256Cys	missense variant	-	NC_000001.11:g.81943338A>G	NCI-TCGA
rs767511606	p.Arg257Ser	missense variant	-	NC_000001.11:g.81943342A>T	ExAC,gnomAD
rs762913159	p.Arg257Lys	missense variant	-	NC_000001.11:g.81943341G>A	ExAC
rs775689046	p.Arg257Gly	missense variant	-	NC_000001.11:g.81943340A>G	ExAC,gnomAD
rs1446301500	p.Trp258Arg	missense variant	-	NC_000001.11:g.81943343T>C	gnomAD
rs750301010	p.Lys261Gln	missense variant	-	NC_000001.11:g.81943352A>C	ExAC,TOPMed
rs1302585481	p.Thr262Ser	missense variant	-	NC_000001.11:g.81943355A>T	gnomAD
NCI-TCGA novel	p.Asp263Asn	missense variant	-	NC_000001.11:g.81943358G>A	NCI-TCGA
rs755906651	p.Ile264Val	missense variant	-	NC_000001.11:g.81943361A>G	ExAC,gnomAD
COSM681962	p.Ile264Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943361A>T	NCI-TCGA Cosmic
COSM3805940	p.Asp265Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943364G>A	NCI-TCGA Cosmic
COSM6064208	p.Asp265His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943364G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu266Pro	missense variant	-	NC_000001.11:g.81943368T>C	NCI-TCGA
rs754705217	p.Val268Ala	missense variant	-	NC_000001.11:g.81943374T>C	ExAC,gnomAD
COSM197140	p.Glu270Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81943379G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn271ThrPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.81943382_81943383insCAATCAGGAG	NCI-TCGA
rs778395762	p.Gly272Arg	missense variant	-	NC_000001.11:g.81943385G>C	ExAC,gnomAD
COSM4896972	p.Gly272Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943386G>A	NCI-TCGA Cosmic
rs1313830119	p.Val275Ile	missense variant	-	NC_000001.11:g.81943394G>A	gnomAD
rs778439430	p.Ala278Thr	missense variant	-	NC_000001.11:g.81943403G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu280Lys	missense variant	-	NC_000001.11:g.81943409G>A	NCI-TCGA
rs1184601410	p.Gln281Arg	missense variant	-	NC_000001.11:g.81943413A>G	gnomAD
rs1208884524	p.Asn282Ser	missense variant	-	NC_000001.11:g.81943416A>G	TOPMed
rs1249802379	p.Asn283Ser	missense variant	-	NC_000001.11:g.81943419A>G	gnomAD
NCI-TCGA novel	p.Met285Leu	missense variant	-	NC_000001.11:g.81943424A>C	NCI-TCGA
rs1256626662	p.Met285Ile	missense variant	-	NC_000001.11:g.81943426G>A	TOPMed
rs771565011	p.Ile288Thr	missense variant	-	NC_000001.11:g.81943434T>C	ExAC,gnomAD
rs781730195	p.Pro293Thr	missense variant	-	NC_000001.11:g.81943448C>A	ExAC,gnomAD
rs1175853860	p.Tyr294Asn	missense variant	-	NC_000001.11:g.81943451T>A	gnomAD
rs1355464174	p.Thr295Ala	missense variant	-	NC_000001.11:g.81943454A>G	gnomAD
NCI-TCGA novel	p.Leu296Val	missense variant	-	NC_000001.11:g.81943457C>G	NCI-TCGA
rs746200328	p.Arg297Gln	missense variant	-	NC_000001.11:g.81943461G>A	ExAC,TOPMed,gnomAD
rs746200328	p.Arg297Leu	missense variant	-	NC_000001.11:g.81943461G>T	ExAC,TOPMed,gnomAD
COSM912466	p.Arg297Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81943460C>T	NCI-TCGA Cosmic
rs770097166	p.Thr301Met	missense variant	-	NC_000001.11:g.81943473C>T	ExAC,TOPMed,gnomAD
rs1489147681	p.Thr301Ser	missense variant	-	NC_000001.11:g.81943472A>T	gnomAD
NCI-TCGA novel	p.Trp302TyrPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.81943474_81943475insTATT	NCI-TCGA
NCI-TCGA novel	p.Trp302Ter	stop gained	-	NC_000001.11:g.81943473_81943474insATAA	NCI-TCGA
rs1408708856	p.Trp302Leu	missense variant	-	NC_000001.11:g.81943476G>T	gnomAD
rs1355443553	p.Glu303Lys	missense variant	-	NC_000001.11:g.81943478G>A	TOPMed
rs140256557	p.Asp307Asn	missense variant	-	NC_000001.11:g.81943490G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM2243106	p.Arg309His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943497G>A	NCI-TCGA Cosmic
COSM5754509	p.Arg309Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943496C>T	NCI-TCGA Cosmic
rs1307859781	p.Ala310Val	missense variant	-	NC_000001.11:g.81943500C>T	gnomAD
rs1003335830	p.Ala311Thr	missense variant	-	NC_000001.11:g.81943502G>A	gnomAD
rs1003335830	p.Ala311Ser	missense variant	-	NC_000001.11:g.81943502G>T	gnomAD
COSM681958	p.Ser312Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943506C>T	NCI-TCGA Cosmic
rs959532564	p.Met316Val	missense variant	-	NC_000001.11:g.81943517A>G	TOPMed
COSM3805944	p.Ile317Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943520A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly319Arg	missense variant	-	NC_000001.11:g.81943526G>A	NCI-TCGA
rs1477358823	p.Tyr322His	missense variant	-	NC_000001.11:g.81943535T>C	gnomAD
rs1191117419	p.Val324Ile	missense variant	-	NC_000001.11:g.81943541G>A	gnomAD
rs989656727	p.Ser326Ala	missense variant	-	NC_000001.11:g.81943547T>G	TOPMed
COSM6064199	p.Ser326Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81943548C>A	NCI-TCGA Cosmic
rs759210116	p.Tyr328Phe	missense variant	-	NC_000001.11:g.81943554A>T	ExAC,gnomAD
COSM5122664	p.Tyr328Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943554A>G	NCI-TCGA Cosmic
COSM3492711	p.Glu332Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943565G>A	NCI-TCGA Cosmic
rs1415637297	p.Ser333Arg	missense variant	-	NC_000001.11:g.81943568A>C	TOPMed
rs1167044032	p.Gly336Asp	missense variant	-	NC_000001.11:g.81943578G>A	gnomAD
rs1167044032	p.Gly336Val	missense variant	-	NC_000001.11:g.81943578G>T	gnomAD
rs150461118	p.Lys337Thr	missense variant	-	NC_000001.11:g.81943581A>C	ESP
COSM6127494	p.Lys337Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943582G>T	NCI-TCGA Cosmic
rs1428669133	p.Ile340Val	missense variant	-	NC_000001.11:g.81943589A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asp341Glu	missense variant	-	NC_000001.11:g.81943594T>G	NCI-TCGA
rs1351106100	p.Ile343Val	missense variant	-	NC_000001.11:g.81943598A>G	gnomAD
rs552007701	p.Ile343Met	missense variant	-	NC_000001.11:g.81943600T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs977096384	p.Asn345Ser	missense variant	-	NC_000001.11:g.81943605A>G	TOPMed,gnomAD
rs924306638	p.Thr346Ala	missense variant	-	NC_000001.11:g.81943607A>G	TOPMed
COSM3492715	p.Thr346Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943608C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg347Ter	stop gained	-	NC_000001.11:g.81943610C>T	NCI-TCGA
rs1230366553	p.Arg347Gln	missense variant	-	NC_000001.11:g.81943611G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asn349Lys	missense variant	-	NC_000001.11:g.81943618C>A	NCI-TCGA
rs757891324	p.Arg350Ter	stop gained	-	NC_000001.11:g.81943619C>T	ExAC,gnomAD
rs139129579	p.Arg350Leu	missense variant	-	NC_000001.11:g.81943620G>T	ESP,ExAC,TOPMed,gnomAD
rs757891324	p.Arg350Gly	missense variant	-	NC_000001.11:g.81943619C>G	ExAC,gnomAD
rs139129579	p.Arg350Gln	missense variant	-	NC_000001.11:g.81943620G>A	ESP,ExAC,TOPMed,gnomAD
COSM6127489	p.Gly351Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943623G>T	NCI-TCGA Cosmic
rs1292198975	p.Glu352Lys	missense variant	-	NC_000001.11:g.81943625G>A	gnomAD
rs769993520	p.Glu352Gly	missense variant	-	NC_000001.11:g.81943626A>G	ExAC,gnomAD
COSM912470	p.Glu352Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81943625G>T	NCI-TCGA Cosmic
rs780325031	p.Asp355Asn	missense variant	-	NC_000001.11:g.81943634G>A	ExAC,TOPMed,gnomAD
rs780325031	p.Asp355His	missense variant	-	NC_000001.11:g.81943634G>C	ExAC,TOPMed,gnomAD
COSM6064195	p.Asp355Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943636T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro357LeuPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.81943640_81943641insTGGAAGCCAGGCAAGATGACACTTTAATTATAAGAAAATAT	NCI-TCGA
rs147030277	p.Gln361Arg	missense variant	-	NC_000001.11:g.81943653A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1389921950	p.Ile365Val	missense variant	-	NC_000001.11:g.81943664A>G	gnomAD
rs141768846	p.Ala366Val	missense variant	-	NC_000001.11:g.81943668C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp369Tyr	missense variant	-	NC_000001.11:g.81943676G>T	NCI-TCGA
rs770884955	p.Asn371Ser	missense variant	-	NC_000001.11:g.81943683A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr378Ter	stop gained	-	NC_000001.11:g.81943705C>A	NCI-TCGA
rs538062733	p.Val379Leu	missense variant	-	NC_000001.11:g.81943706G>T	1000Genomes,ExAC,gnomAD
COSM1296723	p.Val379Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943706G>A	NCI-TCGA Cosmic
rs1475499522	p.Asn381Ile	missense variant	-	NC_000001.11:g.81943713A>T	TOPMed
COSM1344475	p.Asn381Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943713A>G	NCI-TCGA Cosmic
rs764875953	p.Arg387Gln	missense variant	-	NC_000001.11:g.81943731G>A	ExAC,TOPMed,gnomAD
rs764875953	p.Arg387Leu	missense variant	-	NC_000001.11:g.81943731G>T	ExAC,TOPMed,gnomAD
COSM3492719	p.Ser389Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943737C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe392Ser	missense variant	-	NC_000001.11:g.81943746T>C	NCI-TCGA
rs752532913	p.Phe392Leu	missense variant	-	NC_000001.11:g.81943747T>A	ExAC,gnomAD
rs762756082	p.Gly393Arg	missense variant	-	NC_000001.11:g.81943748G>C	ExAC,gnomAD
rs1285008174	p.Pro395Ser	missense variant	-	NC_000001.11:g.81943754C>T	gnomAD
rs1331901685	p.Asp396Glu	missense variant	-	NC_000001.11:g.81943759T>A	gnomAD
COSM4896286	p.Asp396Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943757G>A	NCI-TCGA Cosmic
COSM3492723	p.Pro397Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81943760C>T	NCI-TCGA Cosmic
rs763820650	p.Ala398Thr	missense variant	-	NC_000001.11:g.81943763G>A	ExAC,TOPMed,gnomAD
rs1447421970	p.Gln399His	missense variant	-	NC_000001.11:g.81943768A>C	gnomAD
NCI-TCGA novel	p.Val400Ala	missense variant	-	NC_000001.11:g.81950189T>C	NCI-TCGA
rs1342059572	p.Thr402Ser	missense variant	-	NC_000001.11:g.81950194A>T	TOPMed
rs761410106	p.Ala404Thr	missense variant	-	NC_000001.11:g.81950200G>A	ExAC,gnomAD
rs749931960	p.Val405Ala	missense variant	-	NC_000001.11:g.81950204T>C	ExAC,gnomAD
rs781239924	p.Ile407Val	missense variant	-	NC_000001.11:g.81950209A>G	ExAC,TOPMed,gnomAD
rs1199781519	p.Ser409Phe	missense variant	-	NC_000001.11:g.81950216C>T	gnomAD
rs1308871550	p.Ala411Pro	missense variant	-	NC_000001.11:g.81950221G>C	gnomAD
rs1372578567	p.Ala411Val	missense variant	-	NC_000001.11:g.81950222C>T	gnomAD
rs1408102476	p.Glu412Gln	missense variant	-	NC_000001.11:g.81950224G>C	gnomAD
rs539643450	p.Leu413Val	missense variant	-	NC_000001.11:g.81950227C>G	TOPMed,gnomAD
rs1332221301	p.Leu413Gln	missense variant	-	NC_000001.11:g.81950228T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Phe414Cys	missense variant	-	NC_000001.11:g.81950231T>G	NCI-TCGA
rs1236045063	p.Thr416Ile	missense variant	-	NC_000001.11:g.81950237C>T	TOPMed,gnomAD
rs1236045063	p.Thr416Ser	missense variant	-	NC_000001.11:g.81950237C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ile417Leu	insertion	-	NC_000001.11:g.81950241_81950242insCTG	NCI-TCGA
rs139594598	p.Ile417Val	missense variant	-	NC_000001.11:g.81950239A>G	ESP,ExAC,TOPMed,gnomAD
rs1344754184	p.Ile418Val	missense variant	-	NC_000001.11:g.81950242A>G	gnomAD
rs1206239294	p.Ile418Met	missense variant	-	NC_000001.11:g.81950244A>G	gnomAD
rs1274932787	p.Ser419Ala	missense variant	-	NC_000001.11:g.81950245T>G	gnomAD
rs367932426	p.Ser419Leu	missense variant	-	NC_000001.11:g.81950246C>T	ESP,ExAC,TOPMed,gnomAD
rs201834453	p.Thr420Ala	missense variant	-	NC_000001.11:g.81950248A>G	1000Genomes,ExAC,gnomAD
rs748305277	p.Ser422Arg	missense variant	-	NC_000001.11:g.81950256C>A	ExAC,gnomAD
rs758616029	p.Thr423Ile	missense variant	-	NC_000001.11:g.81950258C>T	ExAC,TOPMed,gnomAD
rs777775018	p.Thr424Ala	missense variant	-	NC_000001.11:g.81950260A>G	ExAC,gnomAD
rs370794666	p.Gln426Glu	missense variant	-	NC_000001.11:g.81950266C>G	ESP,TOPMed,gnomAD
rs1414730811	p.Lys427Asn	missense variant	-	NC_000001.11:g.81950271A>T	TOPMed,gnomAD
rs1190413156	p.Gly428Asp	missense variant	-	NC_000001.11:g.81950273G>A	TOPMed
rs1190413156	p.Gly428Ala	missense variant	-	NC_000001.11:g.81950273G>C	TOPMed
rs968852464	p.Pro429Leu	missense variant	-	NC_000001.11:g.81950276C>T	gnomAD
COSM912472	p.Pro429His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81950276C>A	NCI-TCGA Cosmic
rs916707063	p.Met430Arg	missense variant	-	NC_000001.11:g.81950279T>G	TOPMed
rs1392294079	p.Met430Leu	missense variant	-	NC_000001.11:g.81950278A>C	gnomAD
rs769663548	p.Met430Ile	missense variant	-	NC_000001.11:g.81950280G>A	ExAC,gnomAD
rs1307554352	p.Ser431Gly	missense variant	-	NC_000001.11:g.81950281A>G	gnomAD
rs1391530909	p.Thr432Ser	missense variant	-	NC_000001.11:g.81950284A>T	gnomAD
rs1388522029	p.Thr433Ser	missense variant	-	NC_000001.11:g.81950287A>T	TOPMed,gnomAD
rs1388522029	p.Thr433Ala	missense variant	-	NC_000001.11:g.81950287A>G	TOPMed,gnomAD
rs1322158439	p.Val434Leu	missense variant	-	NC_000001.11:g.81950290G>T	gnomAD
rs572962964	p.Gly440Ala	missense variant	-	NC_000001.11:g.81950309G>C	ExAC,TOPMed,gnomAD
rs572962964	p.Gly440Glu	missense variant	-	NC_000001.11:g.81950309G>A	ExAC,TOPMed,gnomAD
rs1343916722	p.Gly440Arg	missense variant	-	NC_000001.11:g.81950308G>A	TOPMed,gnomAD
rs1488525752	p.Ser441Ile	missense variant	-	NC_000001.11:g.81950312G>T	gnomAD
rs927330174	p.Ser441Arg	missense variant	-	NC_000001.11:g.81950311A>C	gnomAD
rs924181336	p.Lys442Glu	missense variant	-	NC_000001.11:g.81950314A>G	TOPMed
rs1211050608	p.Gly443Arg	missense variant	-	NC_000001.11:g.81950317G>A	gnomAD
rs767172348	p.Thr444Lys	missense variant	-	NC_000001.11:g.81950321C>A	ExAC,gnomAD
rs367624384	p.Thr444Ala	missense variant	-	NC_000001.11:g.81950320A>G	ESP,ExAC,TOPMed,gnomAD
rs1189026835	p.Pro446Thr	missense variant	-	NC_000001.11:g.81950326C>A	TOPMed,gnomAD
rs1189026835	p.Pro446Ser	missense variant	-	NC_000001.11:g.81950326C>T	TOPMed,gnomAD
rs760192036	p.Pro448Thr	missense variant	-	NC_000001.11:g.81950332C>A	ExAC,TOPMed,gnomAD
rs1369210729	p.Val450Ala	missense variant	-	NC_000001.11:g.81950339T>C	gnomAD
rs1168196940	p.Val450Phe	missense variant	-	NC_000001.11:g.81950338G>T	gnomAD
NCI-TCGA novel	p.Ser451Tyr	missense variant	-	NC_000001.11:g.81950342C>A	NCI-TCGA
NCI-TCGA novel	p.Thr452Ile	missense variant	-	NC_000001.11:g.81950345C>T	NCI-TCGA
rs561207716	p.Thr452Ala	missense variant	-	NC_000001.11:g.81950344A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile455Ser	missense variant	-	NC_000001.11:g.81950354T>G	NCI-TCGA
rs112681863	p.Pro456Ser	missense variant	-	NC_000001.11:g.81950356C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759899683	p.Pro456Leu	missense variant	-	NC_000001.11:g.81950357C>T	ExAC,TOPMed,gnomAD
rs199620944	p.Ile458Val	missense variant	-	NC_000001.11:g.81950362A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753048297	p.Ile458Met	missense variant	-	NC_000001.11:g.81950364A>G	ExAC
rs758597116	p.Asn460Lys	missense variant	-	NC_000001.11:g.81950370T>A	ExAC,gnomAD
rs560176083	p.Ile461Thr	missense variant	-	NC_000001.11:g.81950372T>C	1000Genomes,ExAC,gnomAD
rs560176083	p.Ile461Ser	missense variant	-	NC_000001.11:g.81950372T>G	1000Genomes,ExAC,gnomAD
COSM4010106	p.Ile461Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81950373T>G	NCI-TCGA Cosmic
rs751626246	p.Phe462Ser	missense variant	-	NC_000001.11:g.81950375T>C	ExAC,gnomAD
rs757313514	p.Pro463Leu	missense variant	-	NC_000001.11:g.81950378C>T	ExAC,TOPMed,gnomAD
COSM3492727	p.Pro463Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81950377C>T	NCI-TCGA Cosmic
rs1263136262	p.Leu464Pro	missense variant	-	NC_000001.11:g.81950381T>C	gnomAD
rs779871071	p.Pro465Leu	missense variant	-	NC_000001.11:g.81950384C>T	ExAC,gnomAD
rs201613006	p.Arg467Ser	missense variant	-	NC_000001.11:g.81950391A>T	ExAC,TOPMed,gnomAD
COSM5247223	p.Arg467Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81950390G>A	NCI-TCGA Cosmic
COSM912474	p.Arg467Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81950390G>T	NCI-TCGA Cosmic
VAR_077836	p.Arg467Thr	Missense	-	-	UniProt
NCI-TCGA novel	p.Phe468Leu	missense variant	-	NC_000001.11:g.81950394C>A	NCI-TCGA
rs918614589	p.Phe468Leu	missense variant	-	NC_000001.11:g.81950394C>G	TOPMed,gnomAD
COSM282468	p.Phe468Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81950392T>C	NCI-TCGA Cosmic
rs778897402	p.Cys469Tyr	missense variant	-	NC_000001.11:g.81950396G>A	ExAC,gnomAD
rs1257157242	p.Asp473Gly	missense variant	-	NC_000001.11:g.81950408A>G	gnomAD
NCI-TCGA novel	p.Ser474Cys	missense variant	-	NC_000001.11:g.81950411C>G	NCI-TCGA
rs900274477	p.Lys475Thr	missense variant	-	NC_000001.11:g.81950414A>C	TOPMed,gnomAD
rs900274477	p.Lys475Arg	missense variant	-	NC_000001.11:g.81950414A>G	TOPMed,gnomAD
COSM4010110	p.Lys475Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81950414A>T	NCI-TCGA Cosmic
rs1185573836	p.Gly476Arg	missense variant	-	NC_000001.11:g.81950416G>C	TOPMed,gnomAD
rs1471367918	p.Gly476Glu	missense variant	-	NC_000001.11:g.81950417G>A	TOPMed
NCI-TCGA novel	p.Trp479Arg	missense variant	-	NC_000001.11:g.81950425T>C	NCI-TCGA
rs771653946	p.Pro480Ser	missense variant	-	NC_000001.11:g.81950428C>T	ExAC,gnomAD
COSM4836183	p.Gln481Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81950431C>T	NCI-TCGA Cosmic
rs551874502	p.Thr482Ser	missense variant	-	NC_000001.11:g.81950434A>T	1000Genomes,ExAC,gnomAD
rs551874502	p.Thr482Ala	missense variant	-	NC_000001.11:g.81950434A>G	1000Genomes,ExAC,gnomAD
rs186256320	p.Gln483Glu	missense variant	-	NC_000001.11:g.81950437C>G	1000Genomes,ExAC,gnomAD
rs1457067591	p.Gly485Ala	missense variant	-	NC_000001.11:g.81950444G>C	gnomAD
rs770405766	p.Met486Val	missense variant	-	NC_000001.11:g.81950446A>G	ExAC,TOPMed,gnomAD
rs776115597	p.Met487Val	missense variant	-	NC_000001.11:g.81950449A>G	ExAC,gnomAD
rs1397398600	p.Met487Thr	missense variant	-	NC_000001.11:g.81950450T>C	gnomAD
rs1310034801	p.Glu489Gln	missense variant	-	NC_000001.11:g.81950455G>C	gnomAD
rs765710656	p.Arg490Gln	missense variant	-	NC_000001.11:g.81950459G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro491Ser	missense variant	-	NC_000001.11:g.81950461C>T	NCI-TCGA
rs753101549	p.Pro491Ala	missense variant	-	NC_000001.11:g.81950461C>G	ExAC,gnomAD
rs758607216	p.Pro491Leu	missense variant	-	NC_000001.11:g.81950462C>T	TOPMed,gnomAD
rs763341128	p.Gly495Arg	missense variant	-	NC_000001.11:g.81950473G>A	ExAC,gnomAD
rs1198941375	p.Gly495Glu	missense variant	-	NC_000001.11:g.81950474G>A	gnomAD
rs764247248	p.Thr496Arg	missense variant	-	NC_000001.11:g.81950477C>G	ExAC,gnomAD
rs764247248	p.Thr496Ile	missense variant	-	NC_000001.11:g.81950477C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg497LysTerGluLeu	stop gained	-	NC_000001.11:g.81950480_81950481insGAAATGAGAATT	NCI-TCGA
rs1327794285	p.Arg497Gly	missense variant	-	NC_000001.11:g.81950479A>G	TOPMed
NCI-TCGA novel	p.Gly498Arg	missense variant	-	NC_000001.11:g.81950482G>A	NCI-TCGA
rs1480627062	p.Gly498Ala	missense variant	-	NC_000001.11:g.81951018G>C	gnomAD
rs1427790721	p.Ser501Leu	missense variant	-	NC_000001.11:g.81951027C>T	gnomAD
rs759016504	p.Leu503Phe	missense variant	-	NC_000001.11:g.81951032C>T	ExAC,gnomAD
rs1394140104	p.Met505Val	missense variant	-	NC_000001.11:g.81951038A>G	gnomAD
COSM3492739	p.Met505Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81951040G>A	NCI-TCGA Cosmic
rs770320770	p.Ile506Phe	missense variant	-	NC_000001.11:g.81951041A>T	ExAC,TOPMed,gnomAD
rs375025939	p.Ser507Pro	missense variant	-	NC_000001.11:g.81951044T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr508Ile	missense variant	-	NC_000001.11:g.81951048C>T	NCI-TCGA
rs1172737484	p.Gly509Val	missense variant	-	NC_000001.11:g.81951051G>T	gnomAD
rs763242537	p.Asn512Asp	missense variant	-	NC_000001.11:g.81951059A>G	ExAC,gnomAD
rs764455185	p.Pro513Leu	missense variant	-	NC_000001.11:g.81951063C>T	ExAC,gnomAD
rs764455185	p.Pro513Arg	missense variant	-	NC_000001.11:g.81951063C>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys514Glu	missense variant	-	NC_000001.11:g.81951065A>G	NCI-TCGA
NCI-TCGA novel	p.Pro516Arg	missense variant	-	NC_000001.11:g.81951072C>G	NCI-TCGA
NCI-TCGA novel	p.Asp517Ala	missense variant	-	NC_000001.11:g.81951075A>C	NCI-TCGA
rs767811966	p.Asp517Asn	missense variant	-	NC_000001.11:g.81951074G>A	ExAC,TOPMed,gnomAD
rs1343201443	p.Ser519Thr	missense variant	-	NC_000001.11:g.81951081G>C	gnomAD
NCI-TCGA novel	p.Asn520Lys	missense variant	-	NC_000001.11:g.81951085C>A	NCI-TCGA
rs750558783	p.Asn520Lys	missense variant	-	NC_000001.11:g.81951085C>G	ExAC,TOPMed,gnomAD
rs1230873479	p.Asn520Ser	missense variant	-	NC_000001.11:g.81951084A>G	gnomAD
rs1307000905	p.Cys521Ser	missense variant	-	NC_000001.11:g.81951087G>C	gnomAD
rs1222327871	p.Thr522Ala	missense variant	-	NC_000001.11:g.81951089A>G	gnomAD
NCI-TCGA novel	p.Ser523Ter	stop gained	-	NC_000001.11:g.81951093C>A	NCI-TCGA
COSM3492743	p.Ser523Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81951093C>T	NCI-TCGA Cosmic
rs1487772342	p.Trp525Leu	missense variant	-	NC_000001.11:g.81951099G>T	gnomAD
rs1026120553	p.Leu529Met	missense variant	-	NC_000001.11:g.81951110C>A	gnomAD
rs147910384	p.Ala530Ser	missense variant	-	NC_000001.11:g.81951113G>T	1000Genomes,ESP,ExAC,gnomAD
rs147910384	p.Ala530Thr	missense variant	-	NC_000001.11:g.81951113G>A	1000Genomes,ESP,ExAC,gnomAD
rs1170099299	p.Lys532Asn	missense variant	-	NC_000001.11:g.81951121G>T	gnomAD
rs757001353	p.Arg534Ser	missense variant	-	NC_000001.11:g.81951962A>T	ExAC,gnomAD
rs751402495	p.Arg534Lys	missense variant	-	NC_000001.11:g.81951961G>A	ExAC,gnomAD
rs780840604	p.Ser535Gly	missense variant	-	NC_000001.11:g.81951963A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly536Val	missense variant	-	NC_000001.11:g.81951967G>T	NCI-TCGA
rs755762837	p.Gly536Arg	missense variant	-	NC_000001.11:g.81951966G>A	ExAC,TOPMed,gnomAD
rs779661718	p.Glu537Ala	missense variant	-	NC_000001.11:g.81951970A>C	ExAC,gnomAD
rs748714494	p.Glu537Asp	missense variant	-	NC_000001.11:g.81951971A>C	ExAC,gnomAD
rs769233366	p.Asn538Asp	missense variant	-	NC_000001.11:g.81951972A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala539Thr	missense variant	-	NC_000001.11:g.81951975G>A	NCI-TCGA
rs774668867	p.Ala540Pro	missense variant	-	NC_000001.11:g.81951978G>C	ExAC,gnomAD
rs748535553	p.Ser541Arg	missense variant	-	NC_000001.11:g.81951981A>C	ExAC,TOPMed,gnomAD
rs748535553	p.Ser541Gly	missense variant	-	NC_000001.11:g.81951981A>G	ExAC,TOPMed,gnomAD
rs1446128752	p.Ser541Asn	missense variant	-	NC_000001.11:g.81951982G>A	TOPMed,gnomAD
rs1262664165	p.Leu542His	missense variant	-	NC_000001.11:g.81951985T>A	gnomAD
rs193155723	p.Ala543Thr	missense variant	-	NC_000001.11:g.81951987G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM912476	p.Ala543Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81951988C>T	NCI-TCGA Cosmic
rs773706452	p.Asn544Ser	missense variant	-	NC_000001.11:g.81951991A>G	ExAC,gnomAD
rs761035228	p.Leu546Val	missense variant	-	NC_000001.11:g.81951996C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala547Thr	missense variant	-	NC_000001.11:g.81951999G>A	NCI-TCGA
rs771258305	p.Lys548Gln	missense variant	-	NC_000001.11:g.81952002A>C	ExAC,gnomAD
rs776813714	p.His549Arg	missense variant	-	NC_000001.11:g.81952006A>G	ExAC,gnomAD
rs1303997544	p.Thr550Ala	missense variant	-	NC_000001.11:g.81952008A>G	TOPMed
rs141619218	p.Lys551Arg	missense variant	-	NC_000001.11:g.81952012A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1352309477	p.Gly552Ala	missense variant	-	NC_000001.11:g.81952015G>C	TOPMed
rs1383962316	p.Gly552Trp	missense variant	-	NC_000001.11:g.81952014G>T	gnomAD
COSM1296725	p.Gly552Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81952014G>C	NCI-TCGA Cosmic
rs1027193209	p.Val554Met	missense variant	-	NC_000001.11:g.81952020G>A	TOPMed,gnomAD
rs1027193209	p.Val554Leu	missense variant	-	NC_000001.11:g.81952020G>T	TOPMed,gnomAD
rs1373813136	p.Val554Ala	missense variant	-	NC_000001.11:g.81952021T>C	gnomAD
rs564846501	p.Ala556Pro	missense variant	-	NC_000001.11:g.81952026G>C	1000Genomes,ExAC,gnomAD
rs1289031357	p.Ala556Val	missense variant	-	NC_000001.11:g.81952027C>T	gnomAD
NCI-TCGA novel	p.Asp558Asn	missense variant	-	NC_000001.11:g.81952032G>A	NCI-TCGA
rs761606004	p.Asp558Val	missense variant	-	NC_000001.11:g.81952033A>T	ExAC,gnomAD
rs952925844	p.Val559Leu	missense variant	-	NC_000001.11:g.81952035G>C	TOPMed
COSM3782491	p.Val559Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81952035G>A	NCI-TCGA Cosmic
COSM6127480	p.Ser560Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81952038A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser561Tyr	missense variant	-	NC_000001.11:g.81952042C>A	NCI-TCGA
rs755801633	p.Ser561Phe	missense variant	-	NC_000001.11:g.81952042C>T	ExAC,gnomAD
rs533343795	p.Val563Met	missense variant	-	NC_000001.11:g.81952047G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs149537195	p.Met566Thr	missense variant	-	NC_000001.11:g.81952057T>C	ESP,ExAC,TOPMed,gnomAD
rs753407518	p.Met566Leu	missense variant	-	NC_000001.11:g.81952056A>T	ExAC,gnomAD
COSM6127471	p.Glu567Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81952059G>T	NCI-TCGA Cosmic
rs1014514997	p.Gln568Arg	missense variant	-	NC_000001.11:g.81952063A>G	TOPMed,gnomAD
rs779479290	p.Val570Ala	missense variant	-	NC_000001.11:g.81952069T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp571Asn	missense variant	-	NC_000001.11:g.81952071G>A	NCI-TCGA
NCI-TCGA novel	p.Ile572Val	missense variant	-	NC_000001.11:g.81952074A>G	NCI-TCGA
rs772691879	p.Leu573Val	missense variant	-	NC_000001.11:g.81952077C>G	ExAC,gnomAD
rs375241960	p.Gln576Leu	missense variant	-	NC_000001.11:g.81952087A>T	ESP,ExAC,TOPMed,gnomAD
COSM1344479	p.Gln576His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81952088G>T	NCI-TCGA Cosmic
rs1328793780	p.Gln578Pro	missense variant	-	NC_000001.11:g.81952093A>C	gnomAD
COSM1344481	p.Gln578His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81952094G>T	NCI-TCGA Cosmic
rs1332134220	p.Glu579Lys	missense variant	-	NC_000001.11:g.81952095G>A	gnomAD
rs775637676	p.Leu580Met	missense variant	-	NC_000001.11:g.81952098C>A	ExAC,gnomAD
rs1458226486	p.Pro582Ser	missense variant	-	NC_000001.11:g.81952104C>T	TOPMed
rs767408547	p.Ser583Asn	missense variant	-	NC_000001.11:g.81952108G>A	ExAC,gnomAD
COSM3492751	p.Glu584Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81952110G>A	NCI-TCGA Cosmic
rs750247530	p.Asp586His	missense variant	-	NC_000001.11:g.81952116G>C	ExAC,TOPMed,gnomAD
rs1340875631	p.Gly589Ala	missense variant	-	NC_000001.11:g.81952126G>C	gnomAD
rs766066027	p.Arg590Trp	missense variant	-	NC_000001.11:g.81952128C>T	ExAC,TOPMed,gnomAD
rs370124207	p.Arg590Gln	missense variant	-	NC_000001.11:g.81952129G>A	ESP,ExAC,gnomAD
rs754652149	p.Ser591Thr	missense variant	-	NC_000001.11:g.81952132G>C	ExAC,TOPMed,gnomAD
rs754652149	p.Ser591Asn	missense variant	-	NC_000001.11:g.81952132G>A	ExAC,TOPMed,gnomAD
rs143207053	p.Lys594Thr	missense variant	-	NC_000001.11:g.81952141A>C	ESP,ExAC,TOPMed,gnomAD
rs1402164434	p.Leu595Pro	missense variant	-	NC_000001.11:g.81952988T>C	TOPMed
rs1296761815	p.Leu595Phe	missense variant	-	NC_000001.11:g.81952987C>T	TOPMed
NCI-TCGA novel	p.Lys597AsnPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.81952991A>-	NCI-TCGA
NCI-TCGA novel	p.Arg598Leu	missense variant	-	NC_000001.11:g.81952997G>T	NCI-TCGA
rs940146446	p.Arg598Ter	stop gained	-	NC_000001.11:g.81952996C>T	TOPMed
rs757781676	p.Arg598Gln	missense variant	-	NC_000001.11:g.81952997G>A	ExAC,gnomAD
rs1412323474	p.Lys600Met	missense variant	-	NC_000001.11:g.81953003A>T	TOPMed
NCI-TCGA novel	p.Arg603Met	missense variant	-	NC_000001.11:g.81953012G>T	NCI-TCGA
rs746225953	p.Arg603Gly	missense variant	-	NC_000001.11:g.81953011A>G	ExAC,TOPMed,gnomAD
rs756318632	p.Ala604Val	missense variant	-	NC_000001.11:g.81953015C>T	ExAC,gnomAD
rs368524872	p.Ile609Thr	missense variant	-	NC_000001.11:g.81955881T>C	ESP,gnomAD
rs1310513506	p.Ile609Val	missense variant	-	NC_000001.11:g.81955880A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Val610Ala	missense variant	-	NC_000001.11:g.81955884T>C	NCI-TCGA
NCI-TCGA novel	p.Asp611Asn	missense variant	-	NC_000001.11:g.81955886G>A	NCI-TCGA
NCI-TCGA novel	p.Val613Met	missense variant	-	NC_000001.11:g.81955892G>A	NCI-TCGA
rs889209448	p.Asp614Tyr	missense variant	-	NC_000001.11:g.81955895G>T	gnomAD
rs757757087	p.Asn615Ser	missense variant	-	NC_000001.11:g.81955899A>G	ExAC,TOPMed,gnomAD
COSM4010115	p.Asn615Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81955899A>T	NCI-TCGA Cosmic
rs1019404771	p.Glu623Lys	missense variant	-	NC_000001.11:g.81955922G>A	TOPMed
NCI-TCGA novel	p.Ser624ThrPheSerTerUnk	frameshift	-	NC_000001.11:g.81955920_81955927TGGAATCA>-	NCI-TCGA
rs1486757897	p.Ser624Pro	missense variant	-	NC_000001.11:g.81955925T>C	gnomAD
rs780256229	p.His627Tyr	missense variant	-	NC_000001.11:g.81955934C>T	ExAC,gnomAD
rs754124685	p.His627Arg	missense variant	-	NC_000001.11:g.81955935A>G	ExAC
rs779012595	p.Met628Thr	missense variant	-	NC_000001.11:g.81955938T>C	ExAC,gnomAD
rs770805819	p.Asn629Ser	missense variant	-	NC_000001.11:g.81955941A>G	ExAC,gnomAD
rs748227216	p.Asn629Asp	missense variant	-	NC_000001.11:g.81955940A>G	ExAC,gnomAD
COSM912478	p.Ser630Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81955944C>A	NCI-TCGA Cosmic
rs1185493188	p.Glu632Gly	missense variant	-	NC_000001.11:g.81955950A>G	TOPMed
rs1377885779	p.Gln633Arg	missense variant	-	NC_000001.11:g.81955953A>G	gnomAD
rs781134792	p.Ala634Gly	missense variant	-	NC_000001.11:g.81955956C>G	ExAC,gnomAD
rs1484607410	p.His635Tyr	missense variant	-	NC_000001.11:g.81955958C>T	TOPMed
rs756854901	p.His635Gln	missense variant	-	NC_000001.11:g.81955960T>A	ExAC,gnomAD
rs1262168685	p.Thr636Ser	missense variant	-	NC_000001.11:g.81955962C>G	TOPMed
NCI-TCGA novel	p.Thr638Ala	missense variant	-	NC_000001.11:g.81955967A>G	NCI-TCGA
rs762754075	p.Met639Ile	missense variant	-	NC_000001.11:g.81955972G>A	ExAC,TOPMed,gnomAD
rs1176474957	p.Met639Thr	missense variant	-	NC_000001.11:g.81955971T>C	gnomAD
rs775424081	p.Met639Val	missense variant	-	NC_000001.11:g.81955970A>G	ExAC,TOPMed,gnomAD
rs762754075	p.Met639Ile	missense variant	-	NC_000001.11:g.81955972G>T	ExAC,TOPMed,gnomAD
rs767919508	p.Leu644Val	missense variant	-	NC_000001.11:g.81955985T>G	ExAC,TOPMed,gnomAD
rs1324265095	p.Glu646Lys	missense variant	-	NC_000001.11:g.81955991G>A	TOPMed
rs750872794	p.Gly647Glu	missense variant	-	NC_000001.11:g.81955995G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala648Asp	missense variant	-	NC_000001.11:g.81955998C>A	NCI-TCGA
rs1381761655	p.Phe649Ser	missense variant	-	NC_000001.11:g.81956001T>C	TOPMed
NCI-TCGA novel	p.Val650Phe	missense variant	-	NC_000001.11:g.81956003G>T	NCI-TCGA
rs375944749	p.Val650Asp	missense variant	-	NC_000001.11:g.81956004T>A	ESP,ExAC,TOPMed,gnomAD
rs573774273	p.Ala652Gly	missense variant	-	NC_000001.11:g.81956010C>G	1000Genomes,ExAC,gnomAD
rs754177828	p.Asp653Gly	missense variant	-	NC_000001.11:g.81956013A>G	ExAC,gnomAD
rs542482663	p.Asp653Glu	missense variant	-	NC_000001.11:g.81956014C>A	1000Genomes,ExAC,gnomAD
rs779067381	p.Asn654Ser	missense variant	-	NC_000001.11:g.81956016A>G	ExAC,gnomAD
rs1380650355	p.Leu655Arg	missense variant	-	NC_000001.11:g.81956019T>G	gnomAD
rs1290659850	p.Leu655Val	missense variant	-	NC_000001.11:g.81956018C>G	TOPMed
COSM3866138	p.Leu655Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81956018C>T	NCI-TCGA Cosmic
rs1480576287	p.Pro658Ala	missense variant	-	NC_000001.11:g.81956027C>G	gnomAD
NCI-TCGA novel	p.Thr659LysTerPheSer	stop gained	-	NC_000001.11:g.81956030_81956031insAGTGATTTT	NCI-TCGA
rs1431791270	p.Thr659Ile	missense variant	-	NC_000001.11:g.81956031C>T	TOPMed
rs1255275174	p.Arg660Gly	missense variant	-	NC_000001.11:g.81956033A>G	gnomAD
rs1455362630	p.Ser662Pro	missense variant	-	NC_000001.11:g.81956039T>C	gnomAD
COSM1296727	p.Ser662Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81956040C>G	NCI-TCGA Cosmic
rs758446671	p.Met663Ile	missense variant	-	NC_000001.11:g.81956044G>A	ExAC,gnomAD
rs1007743435	p.Met663Val	missense variant	-	NC_000001.11:g.81956042A>G	TOPMed,gnomAD
rs1410070749	p.Thr665Ala	missense variant	-	NC_000001.11:g.81956048A>G	gnomAD
rs1171861872	p.Glu666Asp	missense variant	-	NC_000001.11:g.81956053A>C	gnomAD
COSM3492755	p.Glu666Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81956051G>A	NCI-TCGA Cosmic
rs199758386	p.Ile668Thr	missense variant	-	NC_000001.11:g.81956058T>C	ESP,ExAC,TOPMed,gnomAD
COSM3492759	p.Val669Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81956060G>T	NCI-TCGA Cosmic
rs1228909918	p.Leu670Val	missense variant	-	NC_000001.11:g.81966060C>G	gnomAD
NCI-TCGA novel	p.Glu671Asp	missense variant	-	NC_000001.11:g.81966065A>T	NCI-TCGA
rs751669877	p.Val672Ile	missense variant	-	NC_000001.11:g.81966066G>A	ExAC,TOPMed,gnomAD
rs757872735	p.Ala673Val	missense variant	-	NC_000001.11:g.81966070C>T	ExAC,TOPMed,gnomAD
rs142415541	p.Val674Ile	missense variant	-	NC_000001.11:g.81966072G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142415541	p.Val674Leu	missense variant	-	NC_000001.11:g.81966072G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1323537587	p.Leu675Val	missense variant	-	NC_000001.11:g.81966075C>G	TOPMed
COSM6127462	p.Ser676Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81966079G>C	NCI-TCGA Cosmic
rs1020642762	p.Thr677Lys	missense variant	-	NC_000001.11:g.81966082C>A	TOPMed
NCI-TCGA novel	p.Gly679Ter	stop gained	-	NC_000001.11:g.81966087G>T	NCI-TCGA
rs1292115637	p.Gln682Arg	missense variant	-	NC_000001.11:g.81966097A>G	gnomAD
rs1239946220	p.Asp683Asn	missense variant	-	NC_000001.11:g.81966099G>A	gnomAD
rs1485272283	p.Asp683Ala	missense variant	-	NC_000001.11:g.81966100A>C	gnomAD
COSM3492768	p.Lys685Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81966107A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe686Cys	missense variant	-	NC_000001.11:g.81966109T>G	NCI-TCGA
rs866926691	p.Pro687Ser	missense variant	-	NC_000001.11:g.81966111C>T	-
rs747889657	p.Gly689Ser	missense variant	-	NC_000001.11:g.81966117G>A	ExAC,TOPMed,gnomAD
rs1290590350	p.Gly694Asp	missense variant	-	NC_000001.11:g.81966133G>A	TOPMed
rs61738843	p.Ile697Val	missense variant	-	NC_000001.11:g.81966141A>G	TOPMed,gnomAD
rs1349936299	p.Ser700Phe	missense variant	-	NC_000001.11:g.81966151C>T	TOPMed
rs759899407	p.Ala701Thr	missense variant	-	NC_000001.11:g.81966153G>A	ExAC,TOPMed,gnomAD
rs145425053	p.Ala701Val	missense variant	-	NC_000001.11:g.81966154C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1344483	p.Ala701Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81966153G>T	NCI-TCGA Cosmic
rs1315386617	p.Asn702Ile	missense variant	-	NC_000001.11:g.81966157A>T	gnomAD
rs147920563	p.Val704Ile	missense variant	-	NC_000001.11:g.81966162G>A	ESP,ExAC,TOPMed,gnomAD
rs147920563	p.Val704Phe	missense variant	-	NC_000001.11:g.81966162G>T	ESP,ExAC,TOPMed,gnomAD
rs200568074	p.Gln706Arg	missense variant	-	NC_000001.11:g.81966169A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn707Tyr	missense variant	-	NC_000001.11:g.81966171A>T	NCI-TCGA
rs775966822	p.Leu712Phe	missense variant	-	NC_000001.11:g.81966406C>T	ExAC,gnomAD
rs1279210773	p.Lys714Asn	missense variant	-	NC_000001.11:g.81966414G>T	TOPMed,gnomAD
rs1279210773	p.Lys714Asn	missense variant	-	NC_000001.11:g.81966414G>C	TOPMed,gnomAD
rs552322182	p.Leu715Phe	missense variant	-	NC_000001.11:g.81966417G>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Val716Leu	missense variant	-	NC_000001.11:g.81966418G>C	NCI-TCGA
rs1009296035	p.Ile718Val	missense variant	-	NC_000001.11:g.81966424A>G	gnomAD
rs764403869	p.Ile719Leu	missense variant	-	NC_000001.11:g.81966427A>C	ExAC,gnomAD
rs538105960	p.Arg721Gln	missense variant	-	NC_000001.11:g.81966434G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs141918220	p.Arg721Trp	missense variant	-	NC_000001.11:g.81966433C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767760729	p.Ser722Thr	missense variant	-	NC_000001.11:g.81966437G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu723Met	missense variant	-	NC_000001.11:g.81966439C>A	NCI-TCGA
rs750505842	p.Gly724Glu	missense variant	-	NC_000001.11:g.81966443G>A	ExAC,gnomAD
rs765044063	p.Phe726Ser	missense variant	-	NC_000001.11:g.81966449T>C	ExAC,gnomAD
rs1449390188	p.Ser728Thr	missense variant	-	NC_000001.11:g.81966455G>C	TOPMed,gnomAD
rs958097534	p.Thr729Ile	missense variant	-	NC_000001.11:g.81966458C>T	TOPMed
rs1169029507	p.Glu730Gly	missense variant	-	NC_000001.11:g.81966461A>G	gnomAD
rs1166610234	p.Asn731Asp	missense variant	-	NC_000001.11:g.81966463A>G	TOPMed
rs758149184	p.Thr733Ala	missense variant	-	NC_000001.11:g.81966469A>G	gnomAD
rs1447789363	p.Ile734Val	missense variant	-	NC_000001.11:g.81966472A>G	TOPMed
rs1328357460	p.Lys735Glu	missense variant	-	NC_000001.11:g.81966475A>G	gnomAD
rs1371992408	p.Lys735Ile	missense variant	-	NC_000001.11:g.81966476A>T	gnomAD
rs1443449341	p.Gly742Asp	missense variant	-	NC_000001.11:g.81966497G>A	gnomAD
rs141656433	p.Arg743Leu	missense variant	-	NC_000001.11:g.81966500G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141656433	p.Arg743His	missense variant	-	NC_000001.11:g.81966500G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751279635	p.Arg743Gly	missense variant	-	NC_000001.11:g.81966499C>G	ExAC,TOPMed,gnomAD
rs751279635	p.Arg743Cys	missense variant	-	NC_000001.11:g.81966499C>T	ExAC,TOPMed,gnomAD
rs1232383993	p.Ala748Thr	missense variant	-	NC_000001.11:g.81966514G>A	gnomAD
rs770366997	p.Ala748Val	missense variant	-	NC_000001.11:g.81966515C>T	ExAC,gnomAD
rs1232383993	p.Ala748Ser	missense variant	-	NC_000001.11:g.81966514G>T	gnomAD
rs1202570802	p.His752Leu	missense variant	-	NC_000001.11:g.81966527A>T	TOPMed
rs749681000	p.His752Gln	missense variant	-	NC_000001.11:g.81966528C>G	ExAC,TOPMed,gnomAD
rs965893779	p.His752Asn	missense variant	-	NC_000001.11:g.81966526C>A	TOPMed
COSM141865	p.Ser755Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81966536C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser757Leu	missense variant	-	NC_000001.11:g.81966542C>T	NCI-TCGA
rs1203602141	p.Ile758Thr	missense variant	-	NC_000001.11:g.81966545T>C	TOPMed
COSM4167701	p.Lys760ArgPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81966550_81966551AA>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser762Cys	missense variant	-	NC_000001.11:g.81966557C>G	NCI-TCGA
NCI-TCGA novel	p.Arg764Leu	missense variant	-	NC_000001.11:g.81966563G>T	NCI-TCGA
rs553433819	p.Arg764Pro	missense variant	-	NC_000001.11:g.81966563G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs553433819	p.Arg764Gln	missense variant	-	NC_000001.11:g.81966563G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs949238240	p.Leu772Arg	missense variant	-	NC_000001.11:g.81966587T>G	TOPMed
COSM4010120	p.Phe773Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81966589T>C	NCI-TCGA Cosmic
rs751334792	p.Thr774Pro	missense variant	-	NC_000001.11:g.81966592A>C	ExAC,gnomAD
COSM5131998	p.Leu775ProPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81966592_81966593insC	NCI-TCGA Cosmic
rs756946253	p.Pro776Leu	missense variant	-	NC_000001.11:g.81966599C>T	ExAC,gnomAD
rs534894740	p.His777Pro	missense variant	-	NC_000001.11:g.81966602A>C	ExAC,TOPMed,gnomAD
rs749974813	p.Ile778Thr	missense variant	-	NC_000001.11:g.81966605T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp779Gly	missense variant	-	NC_000001.11:g.81966608A>G	NCI-TCGA
NCI-TCGA novel	p.Pro780Ser	missense variant	-	NC_000001.11:g.81968026C>T	NCI-TCGA
rs1297530576	p.Pro780Ala	missense variant	-	NC_000001.11:g.81968026C>G	gnomAD
rs774165597	p.Asn782Ser	missense variant	-	NC_000001.11:g.81968033A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe784Leu	missense variant	-	NC_000001.11:g.81968040C>G	NCI-TCGA
rs1306974327	p.Phe784Ile	missense variant	-	NC_000001.11:g.81968038T>A	TOPMed
rs1477185157	p.Asn785Ser	missense variant	-	NC_000001.11:g.81968042A>G	gnomAD
rs1234596485	p.Ala786Gly	missense variant	-	NC_000001.11:g.81968045C>G	gnomAD
NCI-TCGA novel	p.Cys788Ter	stop gained	-	NC_000001.11:g.81968052C>A	NCI-TCGA
NCI-TCGA novel	p.Phe790Leu	missense variant	-	NC_000001.11:g.81968058C>G	NCI-TCGA
rs1170613954	p.Tyr793Cys	missense variant	-	NC_000001.11:g.81968066A>G	gnomAD
rs902638170	p.Met798Val	missense variant	-	NC_000001.11:g.81968080A>G	gnomAD
rs1486979921	p.Met799Ile	missense variant	-	NC_000001.11:g.81968085G>A	gnomAD
rs1216545723	p.Gly800Arg	missense variant	-	NC_000001.11:g.81968086G>A	TOPMed
rs571951429	p.Ser803Thr	missense variant	-	NC_000001.11:g.81968095T>A	1000Genomes,ExAC,gnomAD
rs755571301	p.Gln805Pro	missense variant	-	NC_000001.11:g.81968102A>C	ExAC,gnomAD
rs779511713	p.Val810Ala	missense variant	-	NC_000001.11:g.81968117T>C	ExAC,gnomAD
rs1340238659	p.Val810Ile	missense variant	-	NC_000001.11:g.81968116G>A	TOPMed
rs1161596453	p.Asp811Tyr	missense variant	-	NC_000001.11:g.81968119G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Lys814Thr	missense variant	-	NC_000001.11:g.81968129A>C	NCI-TCGA
rs748535444	p.Thr815Ser	missense variant	-	NC_000001.11:g.81968132C>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg816Ter	stop gained	-	NC_000001.11:g.81968134C>T	NCI-TCGA
rs145464208	p.Arg816Gln	missense variant	-	NC_000001.11:g.81968135G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374306241	p.Thr818Met	missense variant	-	NC_000001.11:g.81968141C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser822Ile	missense variant	-	NC_000001.11:g.81968153G>T	NCI-TCGA
rs1330546550	p.Thr825Ile	missense variant	-	NC_000001.11:g.81968162C>T	TOPMed
rs937532470	p.Thr825Pro	missense variant	-	NC_000001.11:g.81968161A>C	TOPMed
NCI-TCGA novel	p.Asn826Thr	missense variant	-	NC_000001.11:g.81968165A>C	NCI-TCGA
rs776616316	p.Asn826Ser	missense variant	-	NC_000001.11:g.81968165A>G	ExAC,TOPMed,gnomAD
rs745910426	p.Ala828Thr	missense variant	-	NC_000001.11:g.81968170G>A	ExAC,gnomAD
rs768605517	p.Ile829Val	missense variant	-	NC_000001.11:g.81968173A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu830Ile	missense variant	-	NC_000001.11:g.81968176C>A	NCI-TCGA
rs1412545427	p.Leu830Arg	missense variant	-	NC_000001.11:g.81968177T>G	TOPMed
NCI-TCGA novel	p.Met831Ile	missense variant	-	NC_000001.11:g.81968181G>T	NCI-TCGA
NCI-TCGA novel	p.Ala832Thr	missense variant	-	NC_000001.11:g.81968182G>A	NCI-TCGA
rs1336359857	p.Ala832Ser	missense variant	-	NC_000001.11:g.81968182G>T	gnomAD
COSM1344485	p.Ala832Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81968183C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.His833Arg	missense variant	-	NC_000001.11:g.81968186A>G	NCI-TCGA
rs1239875078	p.His833Tyr	missense variant	-	NC_000001.11:g.81968185C>T	gnomAD
NCI-TCGA novel	p.Arg834Lys	missense variant	-	NC_000001.11:g.81968189G>A	NCI-TCGA
rs774220540	p.Arg834Gly	missense variant	-	NC_000001.11:g.81968188A>G	ExAC,gnomAD
rs1324770310	p.Glu835Lys	missense variant	-	NC_000001.11:g.81968191G>A	gnomAD
rs761605949	p.Ile836Met	missense variant	-	NC_000001.11:g.81968196T>G	ExAC,gnomAD
rs1209408927	p.Ala837Thr	missense variant	-	NC_000001.11:g.81968197G>A	gnomAD
rs1253347555	p.Tyr838Cys	missense variant	-	NC_000001.11:g.81969179A>G	gnomAD
rs376619865	p.Tyr838His	missense variant	-	NC_000001.11:g.81969178T>C	ESP
rs199597889	p.Lys839Glu	missense variant	-	NC_000001.11:g.81969181A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp840Ala	missense variant	-	NC_000001.11:g.81969185A>C	NCI-TCGA
rs1189334334	p.Asp840Tyr	missense variant	-	NC_000001.11:g.81969184G>T	gnomAD
rs1479119215	p.Val842Ala	missense variant	-	NC_000001.11:g.81969191T>C	gnomAD
rs137977766	p.Val842Ile	missense variant	-	NC_000001.11:g.81969190G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1171880223	p.His843Arg	missense variant	-	NC_000001.11:g.81969194A>G	gnomAD
rs1021670353	p.Glu844Ala	missense variant	-	NC_000001.11:g.81969197A>C	TOPMed
COSM912486	p.Glu844Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81969197A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu847Phe	missense variant	-	NC_000001.11:g.81969205C>T	NCI-TCGA
rs968816039	p.Thr848Ile	missense variant	-	NC_000001.11:g.81969209C>T	TOPMed,gnomAD
rs1326197345	p.Ile850Val	missense variant	-	NC_000001.11:g.81969214A>G	gnomAD
rs764906475	p.Thr851Ser	missense variant	-	NC_000001.11:g.81969217A>T	ExAC,gnomAD
rs752223131	p.Thr851Asn	missense variant	-	NC_000001.11:g.81969218C>A	ExAC,gnomAD
rs1220030732	p.Val853Met	missense variant	-	NC_000001.11:g.81969223G>A	TOPMed
rs143972563	p.Ile855Phe	missense variant	-	NC_000001.11:g.81969229A>T	ESP,ExAC,gnomAD
COSM3492797	p.Ser858Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81969239C>T	NCI-TCGA Cosmic
rs141164723	p.Leu859Phe	missense variant	-	NC_000001.11:g.81969241C>T	ESP,ExAC,TOPMed,gnomAD
rs567320115	p.Val860Ile	missense variant	-	NC_000001.11:g.81969244G>A	1000Genomes,ExAC,gnomAD
rs369954151	p.Cys861Ser	missense variant	-	NC_000001.11:g.81969248G>C	ESP,ExAC,TOPMed,gnomAD
rs369954151	p.Cys861Phe	missense variant	-	NC_000001.11:g.81969248G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala863Thr	missense variant	-	NC_000001.11:g.81969253G>A	NCI-TCGA
rs780161057	p.Ile864Val	missense variant	-	NC_000001.11:g.81969256A>G	ExAC,TOPMed,gnomAD
rs1197317758	p.Cys865Tyr	missense variant	-	NC_000001.11:g.81969260G>A	TOPMed,gnomAD
rs141036576	p.Ile866Val	missense variant	-	NC_000001.11:g.81969262A>G	ESP,TOPMed,gnomAD
COSM3966761	p.Phe869Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81969271T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe871Leu	missense variant	-	NC_000001.11:g.81969279T>A	NCI-TCGA
rs1188242356	p.Phe872Ser	missense variant	-	NC_000001.11:g.81969281T>C	gnomAD
rs777702018	p.Arg873Cys	missense variant	-	NC_000001.11:g.81969283C>T	ExAC,TOPMed,gnomAD
rs576674053	p.Arg873His	missense variant	-	NC_000001.11:g.81969284G>A	ExAC,TOPMed,gnomAD
COSM5186053	p.Arg873ProPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81969276_81969277insT	NCI-TCGA Cosmic
rs1419564993	p.Leu875Val	missense variant	-	NC_000001.11:g.81969289C>G	gnomAD
NCI-TCGA novel	p.Gln876His	missense variant	-	NC_000001.11:g.81969294G>T	NCI-TCGA
rs759301278	p.Gln876Arg	missense variant	-	NC_000001.11:g.81969293A>G	ExAC,gnomAD
rs1346197788	p.Gln876His	missense variant	-	NC_000001.11:g.81969294G>C	gnomAD
rs377666964	p.Ser877Asn	missense variant	-	NC_000001.11:g.81969296G>A	ESP,ExAC,TOPMed,gnomAD
rs373312947	p.Arg879Gln	missense variant	-	NC_000001.11:g.81969302G>A	ESP,ExAC,TOPMed,gnomAD
COSM681956	p.Asn880Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81969306T>A	NCI-TCGA Cosmic
rs762483041	p.Thr881Ala	missense variant	-	NC_000001.11:g.81969307A>G	ExAC,gnomAD
rs752044178	p.His883Gln	missense variant	-	NC_000001.11:g.81969315C>G	ExAC,gnomAD
rs536275045	p.Lys884Arg	missense variant	-	NC_000001.11:g.81969317A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Leu886Phe	missense variant	-	NC_000001.11:g.81969322C>T	NCI-TCGA
rs1317322825	p.Leu886His	missense variant	-	NC_000001.11:g.81969323T>A	gnomAD
rs1169454079	p.Leu890Ile	missense variant	-	NC_000001.11:g.81969334C>A	TOPMed
rs750768047	p.Ile892Thr	missense variant	-	NC_000001.11:g.81969341T>C	ExAC,TOPMed,gnomAD
rs756354341	p.Phe895Leu	missense variant	-	NC_000001.11:g.81969349T>C	ExAC,gnomAD
rs1487959978	p.Phe895Leu	missense variant	-	NC_000001.11:g.81969351T>G	gnomAD
rs1358926563	p.Phe895Cys	missense variant	-	NC_000001.11:g.81969350T>G	TOPMed,gnomAD
rs147510948	p.Ile896Val	missense variant	-	NC_000001.11:g.81969352A>G	ESP,ExAC,gnomAD
rs1185694970	p.Phe897Ile	missense variant	-	NC_000001.11:g.81969355T>A	TOPMed
rs150031756	p.Leu898Pro	missense variant	-	NC_000001.11:g.81969359T>C	ESP,ExAC,TOPMed,gnomAD
rs778847227	p.Gly900Asp	missense variant	-	NC_000001.11:g.81969365G>A	ExAC,gnomAD
rs778847227	p.Gly900Val	missense variant	-	NC_000001.11:g.81969365G>T	ExAC,gnomAD
rs770742407	p.Ile901Thr	missense variant	-	NC_000001.11:g.81969368T>C	ExAC,gnomAD
rs747034256	p.Ile901Val	missense variant	-	NC_000001.11:g.81969367A>G	ExAC,gnomAD
rs781181117	p.Asp902Glu	missense variant	-	NC_000001.11:g.81969372T>G	ExAC,TOPMed,gnomAD
rs769598965	p.Ala907Val	missense variant	-	NC_000001.11:g.81969386C>T	ExAC,TOPMed,gnomAD
rs201193024	p.Ile908Met	missense variant	-	NC_000001.11:g.81970316T>G	ExAC,gnomAD
rs781234266	p.Ile908Ser	missense variant	-	NC_000001.11:g.81970315T>G	ExAC,gnomAD
rs374202661	p.Ala909Val	missense variant	-	NC_000001.11:g.81970318C>T	ESP,ExAC,TOPMed,gnomAD
rs1238007695	p.Ile912Thr	missense variant	-	NC_000001.11:g.81970327T>C	TOPMed
rs892772046	p.Ile912Met	missense variant	-	NC_000001.11:g.81970328A>G	TOPMed,gnomAD
rs1310241833	p.Ala914Pro	missense variant	-	NC_000001.11:g.81970332G>C	TOPMed
COSM912488	p.Leu916Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81970339T>G	NCI-TCGA Cosmic
rs779978389	p.His918Gln	missense variant	-	NC_000001.11:g.81970346C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe919Ile	missense variant	-	NC_000001.11:g.81970347T>A	NCI-TCGA
rs749032614	p.Phe919Val	missense variant	-	NC_000001.11:g.81970347T>G	ExAC,gnomAD
rs1196410606	p.Phe920Leu	missense variant	-	NC_000001.11:g.81970350T>C	gnomAD
rs768158713	p.Phe920Leu	missense variant	-	NC_000001.11:g.81970352C>A	ExAC,TOPMed,gnomAD
rs368282486	p.Phe921Ile	missense variant	-	NC_000001.11:g.81970353T>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala923ValIleValLeuIleThrArgLysAsnThrGluThrTyrSerArgSerHisPheAspPhePhePheLeuAla	insertion	-	NC_000001.11:g.81970344_81970345insACTTTTTCTTTTTGGCTGTCATTGTCTTAATCACAAGAAAGAATACTGAGACATATTCCAGAAGCCATTTTG	NCI-TCGA
NCI-TCGA novel	p.Ala923Thr	missense variant	-	NC_000001.11:g.81970359G>A	NCI-TCGA
NCI-TCGA novel	p.Ala924Asp	missense variant	-	NC_000001.11:g.81970363C>A	NCI-TCGA
rs1376426873	p.Ala924Thr	missense variant	-	NC_000001.11:g.81970362G>A	gnomAD
COSM4010125	p.Ala924Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81970363C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala926Asp	missense variant	-	NC_000001.11:g.81970369C>A	NCI-TCGA
rs1478022145	p.Ala926Val	missense variant	-	NC_000001.11:g.81970369C>T	gnomAD
NCI-TCGA novel	p.Trp927Arg	missense variant	-	NC_000001.11:g.81970371T>C	NCI-TCGA
rs200872583	p.Met928Ile	missense variant	-	NC_000001.11:g.81970376G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs947047129	p.Cys929Phe	missense variant	-	NC_000001.11:g.81970378G>T	TOPMed
rs557212148	p.Leu930Ile	missense variant	-	NC_000001.11:g.81970380C>A	1000Genomes,ExAC,gnomAD
rs900691021	p.Gly932Cys	missense variant	-	NC_000001.11:g.81970386G>T	TOPMed
rs776830974	p.Gln934Lys	missense variant	-	NC_000001.11:g.81970392C>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu935Phe	missense variant	-	NC_000001.11:g.81970395C>T	NCI-TCGA
rs759850927	p.Tyr936Cys	missense variant	-	NC_000001.11:g.81970399A>G	ExAC,TOPMed,gnomAD
rs1172622480	p.Leu937Ile	missense variant	-	NC_000001.11:g.81970401C>A	TOPMed
NCI-TCGA novel	p.Glu941Ter	stop gained	-	NC_000001.11:g.81970413G>T	NCI-TCGA
rs1325353849	p.Glu941Val	missense variant	-	NC_000001.11:g.81970414A>T	gnomAD
NCI-TCGA novel	p.Val942Ile	missense variant	-	NC_000001.11:g.81970416G>A	NCI-TCGA
rs1329256798	p.Ser945Asn	missense variant	-	NC_000001.11:g.81970426G>A	gnomAD
rs1476800075	p.Glu946Val	missense variant	-	NC_000001.11:g.81970429A>T	TOPMed
NCI-TCGA novel	p.Arg949Met	missense variant	-	NC_000001.11:g.81970438G>T	NCI-TCGA
rs1446392973	p.Arg949Lys	missense variant	-	NC_000001.11:g.81970438G>A	TOPMed
rs1214612771	p.Lys950Glu	missense variant	-	NC_000001.11:g.81970440A>G	TOPMed
rs758484253	p.Lys950Thr	missense variant	-	NC_000001.11:g.81970441A>C	ExAC,gnomAD
rs767572804	p.Lys951Thr	missense variant	-	NC_000001.11:g.81970444A>C	ExAC,TOPMed,gnomAD
COSM5113861	p.Lys951AsnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81970440A>-	NCI-TCGA Cosmic
rs1257035314	p.Tyr952Asn	missense variant	-	NC_000001.11:g.81970446T>A	TOPMed,gnomAD
rs1468695720	p.Tyr952Cys	missense variant	-	NC_000001.11:g.81970447A>G	gnomAD
rs750440366	p.Tyr954Cys	missense variant	-	NC_000001.11:g.81970453A>G	ExAC,gnomAD
rs756113269	p.Val955Ile	missense variant	-	NC_000001.11:g.81970455G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala956Val	missense variant	-	NC_000001.11:g.81970459C>T	NCI-TCGA
rs1194558199	p.Gly957Cys	missense variant	-	NC_000001.11:g.81970461G>T	TOPMed,gnomAD
rs573957983	p.Gly957Asp	missense variant	-	NC_000001.11:g.81970462G>A	1000Genomes
rs1170152459	p.Phe960Leu	missense variant	-	NC_000001.11:g.81970470T>C	gnomAD
rs1027918840	p.Val964Gly	missense variant	-	NC_000001.11:g.81970483T>G	TOPMed
rs952372746	p.Val965Ile	missense variant	-	NC_000001.11:g.81970485G>A	TOPMed,gnomAD
rs1164753366	p.Gly966Val	missense variant	-	NC_000001.11:g.81970489G>T	gnomAD
rs1386101630	p.Ala969Thr	missense variant	-	NC_000001.11:g.81970497G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala970Val	missense variant	-	NC_000001.11:g.81970501C>T	NCI-TCGA
COSM1296729	p.Ile971Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81970504T>C	NCI-TCGA Cosmic
rs770685951	p.Tyr973Cys	missense variant	-	NC_000001.11:g.81970510A>G	TOPMed,gnomAD
rs1276832768	p.Tyr973His	missense variant	-	NC_000001.11:g.81970509T>C	TOPMed
NCI-TCGA novel	p.Ser975Asn	missense variant	-	NC_000001.11:g.81970516G>A	NCI-TCGA
COSM5132470	p.Tyr976Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81970520T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly977Glu	missense variant	-	NC_000001.11:g.81970522G>A	NCI-TCGA
rs774188435	p.Thr978Ala	missense variant	-	NC_000001.11:g.81970524A>G	TOPMed,gnomAD
COSM681952	p.Glu979Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81970527G>C	NCI-TCGA Cosmic
rs374706361	p.Lys980Glu	missense variant	-	NC_000001.11:g.81970530A>G	ESP,ExAC,TOPMed,gnomAD
rs778365141	p.Ala981Thr	missense variant	-	NC_000001.11:g.81970533G>A	ExAC,gnomAD
rs747709793	p.Ala981Val	missense variant	-	NC_000001.11:g.81970534C>T	ExAC,TOPMed,gnomAD
rs1198882685	p.Leu984Val	missense variant	-	NC_000001.11:g.81971859C>G	gnomAD
rs752414849	p.His985Arg	missense variant	-	NC_000001.11:g.81971863A>G	ExAC,TOPMed,gnomAD
rs752414849	p.His985Leu	missense variant	-	NC_000001.11:g.81971863A>T	ExAC,TOPMed,gnomAD
rs1040253104	p.Asp987Gly	missense variant	-	NC_000001.11:g.81971869A>G	TOPMed
rs1381986658	p.Asn988Asp	missense variant	-	NC_000001.11:g.81971871A>G	gnomAD
NCI-TCGA novel	p.Tyr989His	missense variant	-	NC_000001.11:g.81971874T>C	NCI-TCGA
rs746474008	p.Tyr989Cys	missense variant	-	NC_000001.11:g.81971875A>G	ExAC,TOPMed,gnomAD
COSM3492816	p.Phe990Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81971877T>A	NCI-TCGA Cosmic
rs771459250	p.Ile991Met	missense variant	-	NC_000001.11:g.81971882A>G	ExAC,TOPMed,gnomAD
rs781482782	p.Ser993Arg	missense variant	-	NC_000001.11:g.81971886A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe994Ser	missense variant	-	NC_000001.11:g.81971890T>C	NCI-TCGA
rs746256625	p.Ile995Leu	missense variant	-	NC_000001.11:g.81971892A>C	ExAC,gnomAD
rs372672882	p.Ile995Thr	missense variant	-	NC_000001.11:g.81971893T>C	ESP,ExAC,TOPMed,gnomAD
rs762607724	p.Gly996Val	missense variant	-	NC_000001.11:g.81971896G>T	ExAC,TOPMed,gnomAD
rs762607724	p.Gly996Ala	missense variant	-	NC_000001.11:g.81971896G>C	ExAC,TOPMed,gnomAD
rs377298321	p.Thr999Asn	missense variant	-	NC_000001.11:g.81971905C>A	ESP,ExAC,TOPMed,gnomAD
rs768974699	p.Leu1003Val	missense variant	-	NC_000001.11:g.81971916C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile1006Met	missense variant	-	NC_000001.11:g.81979877T>G	NCI-TCGA
rs1172009560	p.Ile1006Val	missense variant	-	NC_000001.11:g.81979875A>G	TOPMed
rs1477082325	p.Ile1007Thr	missense variant	-	NC_000001.11:g.81979879T>C	TOPMed
rs1379508714	p.Val1010Met	missense variant	-	NC_000001.11:g.81979887G>A	TOPMed
NCI-TCGA novel	p.Thr1012Lys	missense variant	-	NC_000001.11:g.81979894C>A	NCI-TCGA
COSM4010137	p.Leu1013Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81979896T>G	NCI-TCGA Cosmic
rs1200770011	p.Cys1014Phe	missense variant	-	NC_000001.11:g.81979900G>T	TOPMed
rs372969366	p.Met1016Val	missense variant	-	NC_000001.11:g.81979905A>G	ESP,gnomAD
rs1197761617	p.Met1016Ile	missense variant	-	NC_000001.11:g.81979907G>A	gnomAD
rs756610656	p.Lys1018Thr	missense variant	-	NC_000001.11:g.81979912A>C	ExAC,TOPMed,gnomAD
rs756610656	p.Lys1018Arg	missense variant	-	NC_000001.11:g.81979912A>G	ExAC,TOPMed,gnomAD
rs1189425590	p.Asn1021Lys	missense variant	-	NC_000001.11:g.81979922C>G	TOPMed,gnomAD
rs1164222419	p.Leu1023Ser	missense variant	-	NC_000001.11:g.81979927T>C	gnomAD
COSM426736	p.Leu1023Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81979927T>A	NCI-TCGA Cosmic
rs558150601	p.Pro1025Thr	missense variant	-	NC_000001.11:g.81979932C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1346503031	p.Pro1025Leu	missense variant	-	NC_000001.11:g.81979933C>T	TOPMed
rs1477866800	p.Ser1027Cys	missense variant	-	NC_000001.11:g.81979939C>G	gnomAD
rs748369948	p.Ser1028Thr	missense variant	-	NC_000001.11:g.81979942G>C	ExAC,TOPMed,gnomAD
rs772113763	p.Arg1029Gly	missense variant	-	NC_000001.11:g.81979944A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asn1032Ser	missense variant	-	NC_000001.11:g.81979954A>G	NCI-TCGA
rs759443053	p.Ile1033Val	missense variant	-	NC_000001.11:g.81979956A>G	ExAC,gnomAD
rs765173389	p.Lys1034Arg	missense variant	-	NC_000001.11:g.81979960A>G	ExAC,gnomAD
NCI-TCGA novel	p.Trp1036Arg	missense variant	-	NC_000001.11:g.81981812T>C	NCI-TCGA
rs1278333871	p.Trp1036Cys	missense variant	-	NC_000001.11:g.81981814G>C	gnomAD
rs760143519	p.Leu1038Ile	missense variant	-	NC_000001.11:g.81981818C>A	ExAC,gnomAD
rs1216450318	p.Gly1039Arg	missense variant	-	NC_000001.11:g.81981821G>C	gnomAD
rs1470284505	p.Ala1040Thr	missense variant	-	NC_000001.11:g.81981824G>A	TOPMed
COSM6064174	p.Ala1040Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81981824G>T	NCI-TCGA Cosmic
rs373385024	p.Ala1042Thr	missense variant	-	NC_000001.11:g.81981830G>A	ESP,ExAC,TOPMed,gnomAD
rs751875235	p.Leu1043Phe	missense variant	-	NC_000001.11:g.81981833C>T	ExAC,TOPMed,gnomAD
rs751875235	p.Leu1043Ile	missense variant	-	NC_000001.11:g.81981833C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1044SerPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.81981833_81981834insT	NCI-TCGA
rs757438572	p.Leu1044Val	missense variant	-	NC_000001.11:g.81981836C>G	ExAC,TOPMed,gnomAD
COSM1344487	p.Leu1044Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81981836C>A	NCI-TCGA Cosmic
rs541553847	p.Leu1046Ile	missense variant	-	NC_000001.11:g.81981842C>A	1000Genomes,ExAC,gnomAD
COSM681950	p.Leu1046Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81981842C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu1047Arg	missense variant	-	NC_000001.11:g.81981846T>G	NCI-TCGA
COSM4010141	p.Leu1047His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81981846T>A	NCI-TCGA Cosmic
rs1476941074	p.Leu1049Pro	missense variant	-	NC_000001.11:g.81981852T>C	TOPMed,gnomAD
rs745894208	p.Trp1051Leu	missense variant	-	NC_000001.11:g.81981858G>T	ExAC,gnomAD
COSM141869	p.Ser1052Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81981861C>T	NCI-TCGA Cosmic
rs1458223388	p.Gly1054Arg	missense variant	-	NC_000001.11:g.81981866G>C	gnomAD
rs1388462679	p.Leu1056Phe	missense variant	-	NC_000001.11:g.81981872C>T	gnomAD
rs778839893	p.Ile1058Phe	missense variant	-	NC_000001.11:g.81981878A>T	ExAC,TOPMed,gnomAD
rs778839893	p.Ile1058Val	missense variant	-	NC_000001.11:g.81981878A>G	ExAC,TOPMed,gnomAD
rs560086221	p.Asn1059Ser	missense variant	-	NC_000001.11:g.81981882A>G	1000Genomes,ExAC,gnomAD
rs771971493	p.Glu1060Gly	missense variant	-	NC_000001.11:g.81981885A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr1062Ile	missense variant	-	NC_000001.11:g.81981891C>T	NCI-TCGA
rs1397691445	p.Ile1063Val	missense variant	-	NC_000001.11:g.81981893A>G	gnomAD
rs1294417972	p.Val1064Met	missense variant	-	NC_000001.11:g.81981896G>A	gnomAD
rs1340494298	p.Met1065Val	missense variant	-	NC_000001.11:g.81981899A>G	TOPMed,gnomAD
rs772856711	p.Met1065Thr	missense variant	-	NC_000001.11:g.81981900T>C	ExAC,gnomAD
rs1282839612	p.Ala1066Val	missense variant	-	NC_000001.11:g.81981903C>T	gnomAD
rs574138761	p.Ala1066Thr	missense variant	-	NC_000001.11:g.81981902G>A	ExAC,TOPMed,gnomAD
rs770659493	p.Tyr1067Cys	missense variant	-	NC_000001.11:g.81981906A>G	ExAC,gnomAD
COSM3419514	p.Leu1068Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81981908C>T	NCI-TCGA Cosmic
rs576653196	p.Ile1071Val	missense variant	-	NC_000001.11:g.81981917A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1074Asp	missense variant	-	NC_000001.11:g.81981927C>A	NCI-TCGA
rs765677337	p.Ala1074Val	missense variant	-	NC_000001.11:g.81981927C>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe1075Leu	missense variant	-	NC_000001.11:g.81981931C>A	NCI-TCGA
COSM3492831	p.Gln1076Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81981932C>T	NCI-TCGA Cosmic
rs776121970	p.Gly1077Arg	missense variant	-	NC_000001.11:g.81981935G>A	ExAC,gnomAD
COSM6064168	p.Gly1077Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81981936G>C	NCI-TCGA Cosmic
rs763362240	p.Ile1080Val	missense variant	-	NC_000001.11:g.81981944A>G	ExAC,TOPMed,gnomAD
rs1425831703	p.Ile1082Val	missense variant	-	NC_000001.11:g.81981950A>G	gnomAD
rs1189323563	p.Phe1083Ile	missense variant	-	NC_000001.11:g.81981953T>A	gnomAD
rs1366531010	p.Cys1085Tyr	missense variant	-	NC_000001.11:g.81981960G>A	TOPMed,gnomAD
rs764559323	p.Ala1086Val	missense variant	-	NC_000001.11:g.81981963C>T	ExAC,TOPMed,gnomAD
rs751844952	p.Leu1087His	missense variant	-	NC_000001.11:g.81981966T>A	ExAC,gnomAD
rs1023662572	p.Lys1089Arg	missense variant	-	NC_000001.11:g.81981972A>G	-
rs550579592	p.Val1091Ile	missense variant	-	NC_000001.11:g.81984583G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Arg1092Ter	stop gained	-	NC_000001.11:g.81984586C>T	NCI-TCGA
rs767737569	p.Arg1092Gln	missense variant	-	NC_000001.11:g.81984587G>A	ExAC,TOPMed,gnomAD
COSM5810460	p.Glu1094Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81984592G>T	NCI-TCGA Cosmic
rs750714643	p.Gly1096Asp	missense variant	-	NC_000001.11:g.81984599G>A	ExAC,gnomAD
rs1447977515	p.Cys1098Phe	missense variant	-	NC_000001.11:g.81984605G>T	gnomAD
COSM6127442	p.Cys1098Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81984605G>C	NCI-TCGA Cosmic
rs756300847	p.Arg1100Lys	missense variant	-	NC_000001.11:g.81984611G>A	ExAC,TOPMed,gnomAD
rs1391355702	p.His1101Arg	missense variant	-	NC_000001.11:g.81984614A>G	gnomAD
rs766534631	p.His1101Tyr	missense variant	-	NC_000001.11:g.81984613C>T	ExAC,TOPMed,gnomAD
rs1262524010	p.Ser1102Leu	missense variant	-	NC_000001.11:g.81984617C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly1106Val	missense variant	-	NC_000001.11:g.81984629G>T	NCI-TCGA
rs1302013318	p.Gly1106Glu	missense variant	-	NC_000001.11:g.81984629G>A	gnomAD
rs1314040188	p.Gly1107Ser	missense variant	-	NC_000001.11:g.81984631G>A	gnomAD
rs1262749329	p.Leu1108Val	missense variant	-	NC_000001.11:g.81984634C>G	gnomAD
rs758393417	p.Thr1110Ala	missense variant	-	NC_000001.11:g.81984640A>G	ExAC,TOPMed,gnomAD
rs1199013556	p.Glu1111Ala	missense variant	-	NC_000001.11:g.81984644A>C	gnomAD
rs1239818162	p.Ser1112Asn	missense variant	-	NC_000001.11:g.81984647G>A	gnomAD
rs138480989	p.Pro1113Leu	missense variant	-	NC_000001.11:g.81984650C>T	ESP,TOPMed,gnomAD
rs777505441	p.His1114Gln	missense variant	-	NC_000001.11:g.81984654C>G	ExAC,TOPMed,gnomAD
rs777505441	p.His1114Gln	missense variant	-	NC_000001.11:g.81984654C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1116Leu	missense variant	-	NC_000001.11:g.81984659C>T	NCI-TCGA
rs1413631544	p.Thr1121Ala	missense variant	-	NC_000001.11:g.81984673A>G	gnomAD
rs1200046628	p.Thr1122Ile	missense variant	-	NC_000001.11:g.81984677C>T	TOPMed
rs745554138	p.Thr1124Ser	missense variant	-	NC_000001.11:g.81984683C>G	ExAC,gnomAD
rs1360595913	p.Thr1124Ala	missense variant	-	NC_000001.11:g.81984682A>G	gnomAD
rs775087345	p.Arg1127Cys	missense variant	-	NC_000001.11:g.81984691C>T	ExAC,gnomAD
rs748702474	p.Arg1127His	missense variant	-	NC_000001.11:g.81984692G>A	ExAC,TOPMed,gnomAD
rs1385145668	p.Tyr1128Ser	missense variant	-	NC_000001.11:g.81984695A>C	TOPMed,gnomAD
rs143415657	p.Ser1129Tyr	missense variant	-	NC_000001.11:g.81984698C>A	ESP,ExAC,TOPMed,gnomAD
COSM1344489	p.Ser1129Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81984697T>C	NCI-TCGA Cosmic
rs1341324062	p.Ser1130Cys	missense variant	-	NC_000001.11:g.81984701C>G	gnomAD
rs866223450	p.Gly1131Ala	missense variant	-	NC_000001.11:g.81984704G>C	TOPMed,gnomAD
rs370572677	p.Thr1132Ser	missense variant	-	NC_000001.11:g.81984706A>T	ESP,ExAC,gnomAD
rs1215985236	p.Ser1134Arg	missense variant	-	NC_000001.11:g.81985261T>G	TOPMed
rs1244228355	p.Ser1134Thr	missense variant	-	NC_000001.11:g.81985260G>C	TOPMed
NCI-TCGA novel	p.Arg1135Pro	missense variant	-	NC_000001.11:g.81985263G>C	NCI-TCGA
rs779502306	p.Arg1135His	missense variant	-	NC_000001.11:g.81985263G>A	ExAC,gnomAD
rs1014195159	p.Arg1135Cys	missense variant	-	NC_000001.11:g.81985262C>T	TOPMed
NCI-TCGA novel	p.Arg1138Lys	missense variant	-	NC_000001.11:g.81985272G>A	NCI-TCGA
rs1220194544	p.Arg1138Ile	missense variant	-	NC_000001.11:g.81985272G>T	gnomAD
NCI-TCGA novel	p.Asp1142Asn	missense variant	-	NC_000001.11:g.81985283G>A	NCI-TCGA
COSM275886	p.Asp1142Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81985283G>T	NCI-TCGA Cosmic
COSM5100851	p.Val1144Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81985289G>A	NCI-TCGA Cosmic
rs1488334868	p.Ser1148Leu	missense variant	-	NC_000001.11:g.81985302C>T	TOPMed,gnomAD
rs1485370132	p.Ser1151Tyr	missense variant	-	NC_000001.11:g.81985311C>A	gnomAD
rs1485370132	p.Ser1151Phe	missense variant	-	NC_000001.11:g.81985311C>T	gnomAD
rs868449264	p.Phe1152Val	missense variant	-	NC_000001.11:g.81985313T>G	TOPMed,gnomAD
rs1363767412	p.Gly1155Ser	missense variant	-	NC_000001.11:g.81985322G>A	TOPMed
rs150658580	p.Asp1156Ala	missense variant	-	NC_000001.11:g.81985326A>C	ESP,ExAC,TOPMed,gnomAD
rs772523265	p.Asn1158Ser	missense variant	-	NC_000001.11:g.81985332A>G	ExAC,gnomAD
rs752470806	p.Ser1159Asn	missense variant	-	NC_000001.11:g.81985335G>A	gnomAD
COSM414776	p.Ser1161Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81985341C>G	NCI-TCGA Cosmic
rs760883063	p.Thr1162Pro	missense variant	-	NC_000001.11:g.81985343A>C	ExAC,gnomAD
rs771198606	p.Leu1163Phe	missense variant	-	NC_000001.11:g.81985346C>T	ExAC,TOPMed,gnomAD
rs771198606	p.Leu1163Val	missense variant	-	NC_000001.11:g.81985346C>G	ExAC,TOPMed,gnomAD
rs776777925	p.Asn1164Ser	missense variant	-	NC_000001.11:g.81985350A>G	ExAC,gnomAD
COSM5146686	p.Gln1165Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81985352C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1166Arg	missense variant	-	NC_000001.11:g.81985355G>A	NCI-TCGA
NCI-TCGA novel	p.Met1167Ile	missense variant	-	NC_000001.11:g.81986905G>A	NCI-TCGA
rs560996903	p.Met1167Ile	missense variant	-	NC_000001.11:g.81986905G>T	1000Genomes,ExAC,gnomAD
rs763056264	p.Met1167Thr	missense variant	-	NC_000001.11:g.81986904T>C	ExAC,gnomAD
rs1469522783	p.Thr1168Ser	missense variant	-	NC_000001.11:g.81986906A>T	gnomAD
NCI-TCGA novel	p.Gly1169Val	missense variant	-	NC_000001.11:g.81986910G>T	NCI-TCGA
rs1175399844	p.Gly1169Ala	missense variant	-	NC_000001.11:g.81986910G>C	gnomAD
rs375625734	p.Asn1170Ser	missense variant	-	NC_000001.11:g.81986913A>G	ESP,ExAC
rs1238678092	p.Leu1173Pro	missense variant	-	NC_000001.11:g.81986922T>C	TOPMed
NCI-TCGA novel	p.Thr1174Ala	missense variant	-	NC_000001.11:g.81986924A>G	NCI-TCGA
rs766139223	p.Asn1175Ser	missense variant	-	NC_000001.11:g.81986928A>G	ExAC
rs753623324	p.Pro1176Thr	missense variant	-	NC_000001.11:g.81986930C>A	ExAC,gnomAD
rs899223963	p.Leu1177Ile	missense variant	-	NC_000001.11:g.81986933C>A	TOPMed
rs754660598	p.Arg1179Ter	stop gained	-	NC_000001.11:g.81986939C>T	ExAC,gnomAD
rs764807610	p.Arg1179Gln	missense variant	-	NC_000001.11:g.81986940G>A	ExAC,gnomAD
rs752216664	p.Pro1180Thr	missense variant	-	NC_000001.11:g.81986942C>A	ExAC
rs1343219457	p.His1181Leu	missense variant	-	NC_000001.11:g.81986946A>T	TOPMed,gnomAD
rs1343219457	p.His1181Arg	missense variant	-	NC_000001.11:g.81986946A>G	TOPMed,gnomAD
rs777333460	p.Thr1183Ala	missense variant	-	NC_000001.11:g.81986951A>G	ExAC,gnomAD
COSM5079880	p.Asn1184Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81986955A>G	NCI-TCGA Cosmic
rs1341916395	p.Pro1186His	missense variant	-	NC_000001.11:g.81986961C>A	gnomAD
rs781431355	p.Ala1192Thr	missense variant	-	NC_000001.11:g.81986978G>A	ExAC,TOPMed,gnomAD
rs781431355	p.Ala1192Ser	missense variant	-	NC_000001.11:g.81986978G>T	ExAC,TOPMed,gnomAD
rs1260429946	p.Thr1194Ala	missense variant	-	NC_000001.11:g.81986984A>G	TOPMed
rs1452747238	p.Thr1194Ile	missense variant	-	NC_000001.11:g.81986985C>T	TOPMed,gnomAD
rs1373580693	p.Val1196Leu	missense variant	-	NC_000001.11:g.81986990G>T	TOPMed,gnomAD
rs188777224	p.Asn1198Ser	missense variant	-	NC_000001.11:g.81986997A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs770144606	p.Ala1199Asp	missense variant	-	NC_000001.11:g.81987000C>A	ExAC,gnomAD
rs775792286	p.Ser1201Leu	missense variant	-	NC_000001.11:g.81987006C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala1202ArgPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.81987006_81987025CAGCTCCTGTATTTAACTCA>-	NCI-TCGA
rs749505051	p.Ala1202Pro	missense variant	-	NC_000001.11:g.81987008G>C	ExAC,gnomAD
COSM1584714	p.Pro1203Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81987011C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val1204Ala	missense variant	-	NC_000001.11:g.81987015T>C	NCI-TCGA
rs763740090	p.Val1204Leu	missense variant	-	NC_000001.11:g.81987014G>C	gnomAD
rs763740090	p.Val1204Leu	missense variant	-	NC_000001.11:g.81987014G>T	gnomAD
rs546241850	p.Asn1206His	missense variant	-	NC_000001.11:g.81987020A>C	1000Genomes,ExAC,gnomAD
rs1304389661	p.Asn1206Lys	missense variant	-	NC_000001.11:g.81987022C>G	TOPMed,gnomAD
rs746400400	p.Pro1208Gln	missense variant	-	NC_000001.11:g.81987027C>A	ExAC,TOPMed,gnomAD
rs1383781167	p.Pro1208Ser	missense variant	-	NC_000001.11:g.81987026C>T	TOPMed
rs969053627	p.Gly1209Glu	missense variant	-	NC_000001.11:g.81990391G>A	-
COSM6064164	p.Ser1211Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990396T>C	NCI-TCGA Cosmic
rs1183018579	p.Leu1212Pro	missense variant	-	NC_000001.11:g.81990400T>C	gnomAD
COSM912496	p.Ala1215Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990408G>A	NCI-TCGA Cosmic
rs200393771	p.Arg1216Gly	missense variant	-	NC_000001.11:g.81990411A>G	1000Genomes
rs1402606615	p.Arg1216Lys	missense variant	-	NC_000001.11:g.81990412G>A	gnomAD
rs1402606615	p.Arg1216Met	missense variant	-	NC_000001.11:g.81990412G>T	gnomAD
rs764231254	p.Arg1216Ser	missense variant	-	NC_000001.11:g.81990413G>T	ExAC,gnomAD
rs1344897848	p.Asp1217Glu	missense variant	-	NC_000001.11:g.81990416T>G	gnomAD
COSM3805956	p.Asp1217Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990414G>A	NCI-TCGA Cosmic
rs72719419	p.Ala1220Pro	missense variant	-	NC_000001.11:g.81990423G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM5080092	p.Ala1220Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990424C>G	NCI-TCGA Cosmic
rs749286701	p.Met1221Val	missense variant	-	NC_000001.11:g.81990426A>G	ExAC,gnomAD
rs754847382	p.Asp1222Asn	missense variant	-	NC_000001.11:g.81990429G>A	ExAC,TOPMed,gnomAD
rs754847382	p.Asp1222Tyr	missense variant	-	NC_000001.11:g.81990429G>T	ExAC,TOPMed,gnomAD
rs778788827	p.Thr1223Ile	missense variant	-	NC_000001.11:g.81990433C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu1224Arg	missense variant	-	NC_000001.11:g.81990436T>G	NCI-TCGA
rs143139172	p.Pro1225Leu	missense variant	-	NC_000001.11:g.81990439C>T	ESP,ExAC,TOPMed,gnomAD
rs746655027	p.Leu1226Ile	missense variant	-	NC_000001.11:g.81990441C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asn1227Lys	missense variant	-	NC_000001.11:g.81990446T>G	NCI-TCGA
NCI-TCGA novel	p.Gly1228Val	missense variant	-	NC_000001.11:g.81990448G>T	NCI-TCGA
rs1204682680	p.Asn1232Asp	missense variant	-	NC_000001.11:g.81990459A>G	gnomAD
rs765624220	p.Ser1233Asn	missense variant	-	NC_000001.11:g.81990463G>A	ExAC,gnomAD
rs760114423	p.Ser1233Gly	missense variant	-	NC_000001.11:g.81990462A>G	ExAC,TOPMed,gnomAD
rs779274576	p.Ser1235Leu	missense variant	-	NC_000001.11:g.81990469C>T	ExAC,gnomAD
rs764425371	p.Lys1238Arg	missense variant	-	NC_000001.11:g.81990478A>G	ExAC,gnomAD
rs372665040	p.Lys1238Asn	missense variant	-	NC_000001.11:g.81990479G>C	ESP,ExAC,gnomAD
rs143448377	p.Gly1239Val	missense variant	-	NC_000001.11:g.81990481G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1234663194	p.Asp1240Asn	missense variant	-	NC_000001.11:g.81990483G>A	TOPMed
rs1205396115	p.Tyr1241Cys	missense variant	-	NC_000001.11:g.81990487A>G	TOPMed
rs1333422337	p.Asn1242Ser	missense variant	-	NC_000001.11:g.81990490A>G	gnomAD
NCI-TCGA novel	p.Asp1243Gly	missense variant	-	NC_000001.11:g.81990493A>G	NCI-TCGA
rs750420668	p.Asp1243Glu	missense variant	-	NC_000001.11:g.81990494C>A	ExAC,TOPMed,gnomAD
rs750420668	p.Asp1243Glu	missense variant	-	NC_000001.11:g.81990494C>G	ExAC,TOPMed,gnomAD
rs1006870973	p.Ser1244Asn	missense variant	-	NC_000001.11:g.81990496G>A	TOPMed,gnomAD
rs138336807	p.Val1245Met	missense variant	-	NC_000001.11:g.81990498G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM464986	p.Gln1246Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990502A>C	NCI-TCGA Cosmic
rs1389306587	p.Val1248Ala	missense variant	-	NC_000001.11:g.81990508T>C	TOPMed
rs758334969	p.Val1248Met	missense variant	-	NC_000001.11:g.81990507G>A	ExAC,gnomAD
rs563957003	p.Cys1250Arg	missense variant	-	NC_000001.11:g.81990513T>C	1000Genomes,ExAC,gnomAD
rs371147332	p.Leu1252Pro	missense variant	-	NC_000001.11:g.81990520T>C	ESP,ExAC,TOPMed,gnomAD
rs1023460050	p.Ser1253Thr	missense variant	-	NC_000001.11:g.81990523G>C	TOPMed,gnomAD
rs144340670	p.Leu1254Met	missense variant	-	NC_000001.11:g.81990525C>A	ESP,ExAC,TOPMed,gnomAD
rs780787341	p.Asn1255Ser	missense variant	-	NC_000001.11:g.81990529A>G	ExAC,gnomAD
rs745306062	p.Asp1256Ala	missense variant	-	NC_000001.11:g.81990532A>C	ExAC,TOPMed,gnomAD
rs770344370	p.Thr1257Asn	missense variant	-	NC_000001.11:g.81990535C>A	ExAC,gnomAD
rs775916129	p.Phe1259Leu	missense variant	-	NC_000001.11:g.81990542T>A	ExAC,TOPMed,gnomAD
rs1479324481	p.Glu1260Asp	missense variant	-	NC_000001.11:g.81990545G>T	gnomAD
rs1326228260	p.Ile1263Met	missense variant	-	NC_000001.11:g.81990554C>G	gnomAD
rs769048815	p.Ile1263Phe	missense variant	-	NC_000001.11:g.81990552A>T	ExAC,TOPMed,gnomAD
rs769048815	p.Ile1263Val	missense variant	-	NC_000001.11:g.81990552A>G	ExAC,TOPMed,gnomAD
rs774675797	p.Ile1263Asn	missense variant	-	NC_000001.11:g.81990553T>A	ExAC,gnomAD
rs1405109044	p.His1269Gln	missense variant	-	NC_000001.11:g.81990572C>G	gnomAD
NCI-TCGA novel	p.Asn1270Ile	missense variant	-	NC_000001.11:g.81990574A>T	NCI-TCGA
rs1232962173	p.Asn1270Lys	missense variant	-	NC_000001.11:g.81990575C>A	TOPMed,gnomAD
rs767592229	p.Asn1270Ser	missense variant	-	NC_000001.11:g.81990574A>G	ExAC,TOPMed,gnomAD
rs762043588	p.Asn1270Asp	missense variant	-	NC_000001.11:g.81990573A>G	ExAC,gnomAD
rs1258495502	p.Leu1272Phe	missense variant	-	NC_000001.11:g.81990581A>C	TOPMed,gnomAD
rs1258495502	p.Leu1272Phe	missense variant	-	NC_000001.11:g.81990581A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg1273Gly	missense variant	-	NC_000001.11:g.81990582C>G	NCI-TCGA
rs748402076	p.Arg1273Trp	missense variant	-	NC_000001.11:g.81990582C>T	gnomAD
rs760725709	p.Arg1273Gln	missense variant	-	NC_000001.11:g.81990583G>A	ExAC,TOPMed,gnomAD
rs766477471	p.Ser1275Thr	missense variant	-	NC_000001.11:g.81990589G>C	ExAC,TOPMed,gnomAD
rs766477471	p.Ser1275Asn	missense variant	-	NC_000001.11:g.81990589G>A	ExAC,TOPMed,gnomAD
rs200002945	p.Ser1276Asn	missense variant	-	NC_000001.11:g.81990592G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM4898702	p.Ser1276Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990591A>G	NCI-TCGA Cosmic
rs141518056	p.Lys1277Gln	missense variant	-	NC_000001.11:g.81990594A>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr1278Ser	missense variant	-	NC_000001.11:g.81990597A>T	NCI-TCGA
rs1490258060	p.His1279Tyr	missense variant	-	NC_000001.11:g.81990600C>T	TOPMed,gnomAD
rs1490258060	p.His1279Asn	missense variant	-	NC_000001.11:g.81990600C>A	TOPMed,gnomAD
rs751362791	p.Asn1280Ser	missense variant	-	NC_000001.11:g.81990604A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu1282Asp	missense variant	-	NC_000001.11:g.81990611G>T	NCI-TCGA
rs199665935	p.Glu1282Lys	missense variant	-	NC_000001.11:g.81990609G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1166094225	p.Leu1283Pro	missense variant	-	NC_000001.11:g.81990613T>C	TOPMed,gnomAD
rs543214214	p.Thr1284Arg	missense variant	-	NC_000001.11:g.81990616C>G	ExAC,TOPMed,gnomAD
rs543214214	p.Thr1284Met	missense variant	-	NC_000001.11:g.81990616C>T	ExAC,TOPMed,gnomAD
rs779581570	p.Leu1285Val	missense variant	-	NC_000001.11:g.81990618C>G	ExAC,gnomAD
rs769101989	p.Leu1285Pro	missense variant	-	NC_000001.11:g.81990619T>C	ExAC,gnomAD
rs774727340	p.Pro1286Leu	missense variant	-	NC_000001.11:g.81990622C>T	ExAC,gnomAD
rs772473565	p.Val1287Gly	missense variant	-	NC_000001.11:g.81990625T>G	ExAC,TOPMed,gnomAD
rs146536254	p.Val1287Ile	missense variant	-	NC_000001.11:g.81990624G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755347765	p.Pro1289Ser	missense variant	-	NC_000001.11:g.81990630C>T	ExAC,TOPMed,gnomAD
rs760920783	p.Pro1289His	missense variant	-	NC_000001.11:g.81990631C>A	ExAC,gnomAD
rs1360850462	p.Ile1291Thr	missense variant	-	NC_000001.11:g.81990637T>C	gnomAD
rs781779072	p.Gly1292Arg	missense variant	-	NC_000001.11:g.81990639G>A	TOPMed
rs1248221552	p.Gly1293Asp	missense variant	-	NC_000001.11:g.81990643G>A	gnomAD
rs146227933	p.Ser1295Gly	missense variant	-	NC_000001.11:g.81990648A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs763017818	p.Ser1296Arg	missense variant	-	NC_000001.11:g.81990651A>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp1298Tyr	missense variant	-	NC_000001.11:g.81990657G>T	NCI-TCGA
rs200383050	p.Asp1298Asn	missense variant	-	NC_000001.11:g.81990657G>A	ESP,ExAC,TOPMed,gnomAD
rs757054945	p.Asp1299Gly	missense variant	-	NC_000001.11:g.81990661A>G	ExAC,TOPMed,gnomAD
rs751411562	p.Asp1299Asn	missense variant	-	NC_000001.11:g.81990660G>A	ExAC,gnomAD
rs1374001060	p.Ala1300Asp	missense variant	-	NC_000001.11:g.81990664C>A	gnomAD
rs372364797	p.Ile1301Phe	missense variant	-	NC_000001.11:g.81990666A>T	ExAC,gnomAD
rs779451501	p.Ile1301Thr	missense variant	-	NC_000001.11:g.81990667T>C	ExAC,gnomAD
rs372364797	p.Ile1301Val	missense variant	-	NC_000001.11:g.81990666A>G	ExAC,gnomAD
rs748755054	p.Val1302Met	missense variant	-	NC_000001.11:g.81990669G>A	ExAC,gnomAD
rs1457035805	p.Ala1303Thr	missense variant	-	NC_000001.11:g.81990672G>A	gnomAD
rs779456032	p.Asp1304His	missense variant	-	NC_000001.11:g.81990675G>C	ExAC,gnomAD
rs539592390	p.Asp1304Glu	missense variant	-	NC_000001.11:g.81990677T>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala1305Asp	missense variant	-	NC_000001.11:g.81990679C>A	NCI-TCGA
rs772363344	p.Met1309Thr	missense variant	-	NC_000001.11:g.81990691T>C	ExAC,gnomAD
rs772363344	p.Met1309Arg	missense variant	-	NC_000001.11:g.81990691T>G	ExAC,gnomAD
rs139191087	p.Ser1311Asn	missense variant	-	NC_000001.11:g.81990697G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200831885	p.Asp1312Asn	missense variant	-	NC_000001.11:g.81990699G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200831885	p.Asp1312Tyr	missense variant	-	NC_000001.11:g.81990699G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM5101815	p.Asn1313LysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.81990701_81990702insA	NCI-TCGA Cosmic
rs759634154	p.Pro1314Thr	missense variant	-	NC_000001.11:g.81990705C>A	ExAC,gnomAD
rs146977928	p.Pro1314Arg	missense variant	-	NC_000001.11:g.81990706C>G	ESP,ExAC,TOPMed,gnomAD
rs1039719171	p.Leu1316Gln	missense variant	-	NC_000001.11:g.81990712T>A	gnomAD
rs1206554960	p.Leu1318Phe	missense variant	-	NC_000001.11:g.81990717C>T	gnomAD
rs774493758	p.His1319Gln	missense variant	-	NC_000001.11:g.81990722T>A	ExAC,TOPMed,gnomAD
rs1461667253	p.His1319Arg	missense variant	-	NC_000001.11:g.81990721A>G	gnomAD
COSM3492852	p.His1319Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990720C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1322Ter	stop gained	-	NC_000001.11:g.81990729G>T	NCI-TCGA
rs149473672	p.Glu1324Lys	missense variant	-	NC_000001.11:g.81990735G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767261031	p.Pro1326Leu	missense variant	-	NC_000001.11:g.81990742C>T	ExAC,gnomAD
rs572100788	p.Leu1327Arg	missense variant	-	NC_000001.11:g.81990745T>G	1000Genomes,ExAC,gnomAD
rs368144102	p.Leu1327Val	missense variant	-	NC_000001.11:g.81990744C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148181687	p.Ile1328Thr	missense variant	-	NC_000001.11:g.81990748T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1407320434	p.Pro1329Ser	missense variant	-	NC_000001.11:g.81990750C>T	gnomAD
rs753357765	p.Pro1329Leu	missense variant	-	NC_000001.11:g.81990751C>T	ExAC,gnomAD
rs754550411	p.Arg1331Trp	missense variant	-	NC_000001.11:g.81990756C>T	ExAC,TOPMed,gnomAD
rs748651558	p.Arg1331Gln	missense variant	-	NC_000001.11:g.81990757G>A	ExAC,TOPMed,gnomAD
rs1392017771	p.Thr1332Ala	missense variant	-	NC_000001.11:g.81990759A>G	gnomAD
rs908772575	p.Thr1332Ile	missense variant	-	NC_000001.11:g.81990760C>T	TOPMed
rs758893309	p.Ser1334Cys	missense variant	-	NC_000001.11:g.81990766C>G	ExAC,TOPMed,gnomAD
rs758893309	p.Ser1334Phe	missense variant	-	NC_000001.11:g.81990766C>T	ExAC,TOPMed,gnomAD
rs758893309	p.Ser1334Tyr	missense variant	-	NC_000001.11:g.81990766C>A	ExAC,TOPMed,gnomAD
COSM3985242	p.Leu1336Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990771C>G	NCI-TCGA Cosmic
rs181422749	p.Gln1338Ter	stop gained	-	NC_000001.11:g.81990777C>T	1000Genomes
rs1287413848	p.Gln1340Leu	missense variant	-	NC_000001.11:g.81990784A>T	TOPMed,gnomAD
rs1470354879	p.Lys1342Thr	missense variant	-	NC_000001.11:g.81990790A>C	TOPMed
COSM4010152	p.Val1343Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990792G>C	NCI-TCGA Cosmic
rs144339910	p.Ser1345Thr	missense variant	-	NC_000001.11:g.81990798T>A	1000Genomes,ExAC,gnomAD
rs148763084	p.Glu1346Lys	missense variant	-	NC_000001.11:g.81990801G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1347Ter	stop gained	-	NC_000001.11:g.81990804G>T	NCI-TCGA
rs761678542	p.Gly1347Arg	missense variant	-	NC_000001.11:g.81990804G>A	ExAC,gnomAD
rs767448584	p.Gly1347Glu	missense variant	-	NC_000001.11:g.81990805G>A	ExAC,gnomAD
COSM414774	p.Asp1349His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990810G>C	NCI-TCGA Cosmic
rs74098542	p.Tyr1351Cys	missense variant	-	NC_000001.11:g.81990817A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1181019610	p.Ser1353Pro	missense variant	-	NC_000001.11:g.81990822T>C	gnomAD
NCI-TCGA novel	p.Leu1355Met	missense variant	-	NC_000001.11:g.81990828C>A	NCI-TCGA
NCI-TCGA novel	p.Thr1356Arg	missense variant	-	NC_000001.11:g.81990832C>G	NCI-TCGA
rs370132224	p.Thr1356Ile	missense variant	-	NC_000001.11:g.81990832C>T	ESP,ExAC,TOPMed,gnomAD
rs1052237300	p.Glu1358Asp	missense variant	-	NC_000001.11:g.81990839G>T	TOPMed,gnomAD
rs753531368	p.Glu1358Gly	missense variant	-	NC_000001.11:g.81990838A>G	ExAC,gnomAD
rs759167525	p.Ala1359Ser	missense variant	-	NC_000001.11:g.81990840G>T	ExAC,gnomAD
rs752214205	p.Asp1361Glu	missense variant	-	NC_000001.11:g.81990848T>A	ExAC
rs758837991	p.Leu1363Arg	missense variant	-	NC_000001.11:g.81990853T>G	ExAC,TOPMed,gnomAD
rs758837991	p.Leu1363Pro	missense variant	-	NC_000001.11:g.81990853T>C	ExAC,TOPMed,gnomAD
COSM912502	p.Leu1363Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990852C>A	NCI-TCGA Cosmic
rs1394425538	p.Gln1364Glu	missense variant	-	NC_000001.11:g.81990855C>G	gnomAD
rs1409358853	p.Gln1364Arg	missense variant	-	NC_000001.11:g.81990856A>G	gnomAD
NCI-TCGA novel	p.Ser1365Pro	missense variant	-	NC_000001.11:g.81990858T>C	NCI-TCGA
rs751999103	p.Asn1367Ile	missense variant	-	NC_000001.11:g.81990865A>T	ExAC,gnomAD
rs1347671592	p.Arg1368Lys	missense variant	-	NC_000001.11:g.81990868G>A	gnomAD
rs374881882	p.Asp1369Glu	missense variant	-	NC_000001.11:g.81990872C>A	ESP,ExAC,TOPMed,gnomAD
rs879518049	p.Asp1369Gly	missense variant	-	NC_000001.11:g.81990871A>G	gnomAD
rs746137263	p.Ser1370Phe	missense variant	-	NC_000001.11:g.81990874C>T	ExAC,gnomAD
rs746137263	p.Ser1370Cys	missense variant	-	NC_000001.11:g.81990874C>G	ExAC,gnomAD
rs1252489574	p.Leu1371Val	missense variant	-	NC_000001.11:g.81990876C>G	gnomAD
COSM6064161	p.Tyr1372Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990880A>T	NCI-TCGA Cosmic
COSM4010155	p.Ser1374Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990885A>C	NCI-TCGA Cosmic
rs1314069626	p.Met1375Ile	missense variant	-	NC_000001.11:g.81990890G>A	TOPMed
rs200003266	p.Pro1376Ser	missense variant	-	NC_000001.11:g.81990891C>T	1000Genomes,ExAC,gnomAD
rs1490750593	p.Asn1377Ser	missense variant	-	NC_000001.11:g.81990895A>G	gnomAD
rs1269130766	p.Asn1377Asp	missense variant	-	NC_000001.11:g.81990894A>G	gnomAD
COSM5146690	p.Asn1377Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990896T>A	NCI-TCGA Cosmic
COSM1256642	p.Leu1378Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990898T>G	NCI-TCGA Cosmic
rs41292984	p.Arg1379Lys	missense variant	-	NC_000001.11:g.81990901G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760499936	p.Asp1380His	missense variant	-	NC_000001.11:g.81990903G>C	ExAC,TOPMed,gnomAD
rs1166288878	p.Asp1380Gly	missense variant	-	NC_000001.11:g.81990904A>G	TOPMed
rs1374192500	p.Ser1381Phe	missense variant	-	NC_000001.11:g.81990907C>T	TOPMed
rs1463977902	p.Ser1381Pro	missense variant	-	NC_000001.11:g.81990906T>C	TOPMed
rs1388921735	p.Tyr1383His	missense variant	-	NC_000001.11:g.81990912T>C	gnomAD
rs560319132	p.Pro1384Leu	missense variant	-	NC_000001.11:g.81990916C>T	ExAC,gnomAD
rs142267708	p.Pro1384Ala	missense variant	-	NC_000001.11:g.81990915C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372358222	p.Glu1385Gln	missense variant	-	NC_000001.11:g.81990918G>C	ESP,ExAC,TOPMed,gnomAD
rs116188578	p.Ser1386Arg	missense variant	-	NC_000001.11:g.81990923C>G	1000Genomes,ExAC,gnomAD
rs763504983	p.Met1390Arg	missense variant	-	NC_000001.11:g.81990934T>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu1391Lys	missense variant	-	NC_000001.11:g.81990936G>A	NCI-TCGA
COSM282470	p.Asp1393Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990942G>A	NCI-TCGA Cosmic
rs1297625055	p.Ser1395Cys	missense variant	-	NC_000001.11:g.81990949C>G	gnomAD
COSM3492860	p.Pro1396Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990951C>T	NCI-TCGA Cosmic
COSM4010161	p.Ser1397Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990954T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg1398Trp	missense variant	-	NC_000001.11:g.81990957A>T	NCI-TCGA
rs375600667	p.Arg1398Lys	missense variant	-	NC_000001.11:g.81990958G>A	ESP,ExAC,TOPMed,gnomAD
COSM1561053	p.Arg1398Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990959G>C	NCI-TCGA Cosmic
rs372620044	p.Arg1399Gly	missense variant	-	NC_000001.11:g.81990960A>G	ExAC,TOPMed,gnomAD
rs1377405426	p.Arg1399Ser	missense variant	-	NC_000001.11:g.81990962G>C	TOPMed,gnomAD
COSM1344495	p.Arg1399Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990961G>C	NCI-TCGA Cosmic
rs368321332	p.Glu1401Asp	missense variant	-	NC_000001.11:g.81990968G>T	ESP,ExAC,TOPMed,gnomAD
rs1339968109	p.Asn1402Lys	missense variant	-	NC_000001.11:g.81990971T>G	TOPMed
rs933954488	p.Asp1404Glu	missense variant	-	NC_000001.11:g.81990977C>A	TOPMed
rs780263616	p.Ile1405Leu	missense variant	-	NC_000001.11:g.81990978A>C	ExAC,gnomAD
rs749455861	p.Tyr1406Phe	missense variant	-	NC_000001.11:g.81990982A>T	ExAC,gnomAD
COSM5137869	p.Tyr1406His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990981T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr1407Cys	missense variant	-	NC_000001.11:g.81990985A>G	NCI-TCGA
rs1246694594	p.Lys1408Gln	missense variant	-	NC_000001.11:g.81990987A>C	gnomAD
COSM1344497	p.Ser1409Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81990991G>T	NCI-TCGA Cosmic
rs768822485	p.Met1410Leu	missense variant	-	NC_000001.11:g.81990993A>T	ExAC,gnomAD
rs778837358	p.Pro1411Ser	missense variant	-	NC_000001.11:g.81990996C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu1413Ile	missense variant	-	NC_000001.11:g.81991002C>A	NCI-TCGA
rs1403746832	p.Leu1413Pro	missense variant	-	NC_000001.11:g.81991003T>C	gnomAD
rs1387173688	p.Leu1413Val	missense variant	-	NC_000001.11:g.81991002C>G	gnomAD
rs770815631	p.Ala1415Ser	missense variant	-	NC_000001.11:g.81991008G>T	ExAC,gnomAD
rs1454103691	p.His1417Tyr	missense variant	-	NC_000001.11:g.81991014C>T	gnomAD
rs917573208	p.Leu1419Phe	missense variant	-	NC_000001.11:g.81991020C>T	TOPMed
rs1362896321	p.Met1421Leu	missense variant	-	NC_000001.11:g.81991026A>C	TOPMed,gnomAD
rs200071320	p.Tyr1423His	missense variant	-	NC_000001.11:g.81991032T>C	ExAC,TOPMed,gnomAD
rs762479828	p.Ile1425Val	missense variant	-	NC_000001.11:g.81991038A>G	ExAC,gnomAD
rs1449010869	p.Gly1428Ser	missense variant	-	NC_000001.11:g.81991047G>A	TOPMed
COSM6064152	p.Gly1428Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81991047G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn1429Ser	missense variant	-	NC_000001.11:g.81991051A>G	NCI-TCGA
rs763706882	p.Ser1430Asn	missense variant	-	NC_000001.11:g.81991054G>A	ExAC,TOPMed
rs773682494	p.Asp1431Asn	missense variant	-	NC_000001.11:g.81991056G>A	ExAC,TOPMed,gnomAD
rs773682494	p.Asp1431Tyr	missense variant	-	NC_000001.11:g.81991056G>T	ExAC,TOPMed,gnomAD
rs1317184327	p.Gly1432Val	missense variant	-	NC_000001.11:g.81991060G>T	gnomAD
rs746832360	p.Ile1434Val	missense variant	-	NC_000001.11:g.81991065A>G	TOPMed,gnomAD
COSM6064148	p.Ile1434Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81991065A>T	NCI-TCGA Cosmic
rs750830777	p.Asn1438Thr	missense variant	-	NC_000001.11:g.81991078A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1440Asp	missense variant	-	NC_000001.11:g.81991085A>T	NCI-TCGA
rs1181409915	p.Glu1440Gly	missense variant	-	NC_000001.11:g.81991084A>G	gnomAD
NCI-TCGA novel	p.Gly1441Glu	missense variant	-	NC_000001.11:g.81991087G>A	NCI-TCGA
rs766646868	p.Gly1441Arg	missense variant	-	NC_000001.11:g.81991086G>A	ExAC,gnomAD
rs766646868	p.Gly1441Trp	missense variant	-	NC_000001.11:g.81991086G>T	ExAC,gnomAD
rs1421142641	p.Gly1441Val	missense variant	-	NC_000001.11:g.81991087G>T	gnomAD
NCI-TCGA novel	p.Ile1443Asn	missense variant	-	NC_000001.11:g.81991093T>A	NCI-TCGA
rs754139691	p.Pro1444Ser	missense variant	-	NC_000001.11:g.81991095C>T	ExAC,gnomAD
COSM426740	p.Pro1444Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81991095C>A	NCI-TCGA Cosmic
rs1337295727	p.Gly1446Val	missense variant	-	NC_000001.11:g.81991102G>T	TOPMed,gnomAD
rs1456580569	p.Gly1446Arg	missense variant	-	NC_000001.11:g.81991101G>A	gnomAD
COSM1296731	p.Gly1446Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.81991102G>C	NCI-TCGA Cosmic
rs779081104	p.Asp1447Asn	missense variant	-	NC_000001.11:g.81991104G>A	ExAC,gnomAD
rs748160288	p.Asp1447Gly	missense variant	-	NC_000001.11:g.81991105A>G	ExAC,TOPMed,gnomAD
rs757203865	p.Arg1449Ser	missense variant	-	NC_000001.11:g.81991112A>T	ExAC,TOPMed,gnomAD
rs781166318	p.Glu1450Gly	missense variant	-	NC_000001.11:g.81991114A>G	ExAC,gnomAD
rs745804070	p.Gly1451Ala	missense variant	-	NC_000001.11:g.81991117G>C	ExAC,gnomAD
rs775122775	p.Met1453Arg	missense variant	-	NC_000001.11:g.81991123T>G	ExAC,gnomAD
rs936426168	p.Met1453Ile	missense variant	-	NC_000001.11:g.81991124G>A	TOPMed
rs1183284624	p.Gln1454Glu	missense variant	-	NC_000001.11:g.81991125C>G	TOPMed
rs1437932644	p.Gln1454His	missense variant	-	NC_000001.11:g.81991127G>T	TOPMed
rs1441236243	p.Val1456Ala	missense variant	-	NC_000001.11:g.81991132T>C	gnomAD
rs748987684	p.Val1456Ile	missense variant	-	NC_000001.11:g.81991131G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser1458Gly	missense variant	-	NC_000001.11:g.81991137A>G	NCI-TCGA
NCI-TCGA novel	p.Ser1458Arg	missense variant	-	NC_000001.11:g.81991139T>A	NCI-TCGA
NCI-TCGA novel	p.Leu1459His	missense variant	-	NC_000001.11:g.81991141T>A	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004364	Autoimmune Diseases	group	GWASCAT
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007570	Celiac Disease	disease	GWASCAT
C0009324	Ulcerative Colitis	disease	GWASCAT
C0009447	Common Variable Immunodeficiency	disease	GWASCAT
C0010346	Crohn Disease	disease	GWASCAT
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	GWASCAT
C0017152	Gastritis	disease	BEFREE
C0024141	Lupus Erythematosus, Systemic	disease	GWASCAT
C0033860	Psoriasis	disease	GWASCAT
C0038013	Ankylosing spondylitis	disease	GWASCAT
C0087031	Juvenile-Onset Still Disease	disease	GWASCAT
C0178468	Autoimmune thyroid disease	disease	GWASCAT
C0678222	Breast Carcinoma	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE
C1611184	Calcification of coronary artery	phenotype	GWASDB
C3495559	Juvenile arthritis	disease	GWASCAT
C3714758	Juvenile psoriatic arthritis	disease	GWASCAT

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004930	G protein-coupled receptor activity	IBA
GO:0016524	latrotoxin receptor activity	NAS
GO:0030246	carbohydrate binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007166	cell surface receptor signaling pathway	IEA
GO:0007186	G protein-coupled receptor signaling pathway	NAS
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007420	brain development	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005887	integral component of plasma membrane	IBA
GO:0016021	integral component of membrane	NAS
GO:0043005	neuron projection	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C049325	1,2-dithiol-3-thione	1,2-dithiol-3-thione results in decreased expression of ADGRL2 mRNA	19162173
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of ADGRL2 mRNA	28628672
C010914	2,4-diaminotoluene	2,4-diaminotoluene results in decreased expression of ADGRL2 mRNA	20713471
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of ADGRL2 mRNA	21346803
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of ADGRL2 mRNA	30723492
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 ADGRL2 mRNA	27188386
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of ADGRL2 mRNA	22485181
C496492	abrine	abrine results in decreased expression of ADGRL2 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of ADGRL2 mRNA	21420995
D000082	Acetaminophen	Acetaminophen affects the expression of ADGRL2 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of ADGRL2 intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of ADGRL2 mRNA	19770486
C020763	alpha-latrotoxin	ADGRL2 protein results in increased susceptibility to alpha-latrotoxin	10026162
C020763	alpha-latrotoxin	alpha-latrotoxin binds to ADGRL2 protein	10026162
C020763	alpha-latrotoxin	[alpha-latrotoxin binds to ADGRL2 protein] which results in increased uptake of Calcium	10026162
C015001	arsenite	arsenite results in decreased expression of ADGRL2 mRNA	23974009
C547126	AZM551248	AZM551248 results in decreased expression of ADGRL2 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of ADGRL2 mRNA	19770486
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of ADGRL2 mRNA	22610609
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in increased expression of ADGRL2 mRNA	26377693
D019324	beta-Naphthoflavone	AHR protein affects the reaction [beta-Naphthoflavone results in decreased expression of ADGRL2 mRNA]	22234961
D019324	beta-Naphthoflavone	beta-Naphthoflavone results in decreased expression of ADGRL2 mRNA	22234961
C006780	bisphenol A	bisphenol A results in increased expression of ADGRL2 mRNA	29275510
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of ADGRL2 mRNA	28628672
C006780	bisphenol A	bisphenol A results in decreased methylation of ADGRL2 promoter	27312807
C006780	bisphenol A	bisphenol A affects the expression of ADGRL2 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of ADGRL2 mRNA	12075121; 30816183;
C038599	black widow spider venom	ADGRL2 protein results in increased susceptibility to black widow spider venom	10026162
C038599	black widow spider venom	black widow spider venom binds to ADGRL2 protein	10026162
C038599	black widow spider venom	[black widow spider venom binds to ADGRL2 protein] which results in increased uptake of Calcium	10026162
C018475	butyraldehyde	butyraldehyde results in decreased expression of ADGRL2 mRNA	26079696
D002118	Calcium	[alpha-latrotoxin binds to ADGRL2 protein] which results in increased uptake of Calcium	10026162
D002118	Calcium	[black widow spider venom binds to ADGRL2 protein] which results in increased uptake of Calcium	10026162
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of ADGRL2 gene	20938992
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of and results in decreased expression of ADGRL2	20938992
D002857	Chromium	Chromium results in decreased expression of ADGRL2 mRNA	21437242
D003300	Copper	[ATP7A gene mutant form results in increased abundance of Copper] which results in increased expression of ADGRL2 mRNA	15467011
D003471	Cuprizone	Cuprizone results in decreased expression of ADGRL2 mRNA	26577399
D016572	Cyclosporine	Cyclosporine results in decreased expression of ADGRL2 mRNA	20106945; 25562108;
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of ADGRL2 mRNA	28628672
D003907	Dexamethasone	Dexamethasone results in decreased expression of ADGRL2 mRNA	14618091
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of ADGRL2 mRNA	17361019; 21266533;
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of ADGRL2 mRNA	21266533
D004041	Dietary Fats	Dietary Fats results in increased expression of ADGRL2 mRNA	18042831
D004041	Dietary Fats	Dietary Fats results in decreased expression of ADGRL2 mRNA	21852083
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 ADGRL2 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of ADGRL2 mRNA	29803840
D013759	Dronabinol	Dronabinol affects the methylation of ADGRL2 gene	26044905
D004726	Endosulfan	Endosulfan results in decreased expression of ADGRL2 mRNA	29391264
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in decreased expression of ADGRL2 mRNA	20660070
D000431	Ethanol	Ethanol results in increased expression of ADGRL2 mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of ADGRL2 mRNA	15353170
D017313	Fenretinide	Fenretinide results in increased expression of ADGRL2 mRNA	28973697
D005472	Fluorouracil	ADGRL2 protein affects the susceptibility to Fluorouracil	16217747
C061365	flusilazole	flusilazole affects the expression of ADGRL2 mRNA	21195148
D005485	Flutamide	Flutamide results in decreased expression of ADGRL2 mRNA	24136188; 24793618;
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of ADGRL2 gene	20938992
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of and results in decreased expression of ADGRL2	20938992
D004397	Fonofos	Fonofos results in increased methylation of ADGRL2 promoter	22847954
C039281	furan	furan results in increased methylation of ADGRL2 gene	22079235
C409722	hexaconazole	hexaconazole affects the expression of ADGRL2 mRNA	21195148
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of ADGRL2 mRNA	28628672
C098607	JP8 aviation fuel	JP8 aviation fuel results in decreased expression of ADGRL2 mRNA	15618438
D008694	Methamphetamine	Methamphetamine results in decreased expression of ADGRL2 mRNA	29802913
D008701	Methapyrilene	Methapyrilene results in decreased expression of ADGRL2 mRNA	30467583
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of ADGRL2 gene	20938992
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of and results in decreased expression of ADGRL2	20938992
D008727	Methotrexate	ADGRL2 protein affects the susceptibility to Methotrexate	16217747
D009151	Mustard Gas	Mustard Gas affects the expression of ADGRL2 mRNA	15651846
C051752	nefazodone	nefazodone results in decreased expression of ADGRL2 mRNA	24136188
C012655	nimesulide	nimesulide results in decreased expression of ADGRL2 mRNA	24136188
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of ADGRL2 mRNA	25729387
D000073878	Palm Oil	Palm Oil results in increased expression of ADGRL2 mRNA	18042831
D010278	Parathion	Parathion results in increased methylation of ADGRL2 promoter	22847954
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of ADGRL2 mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in decreased expression of ADGRL2 mRNA	19162173
D010936	Plant Extracts	Plant Extracts results in decreased expression of ADGRL2 mRNA	23557933
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of ADGRL2 mRNA	22714537
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in decreased expression of ADGRL2 mRNA	20660070
D011441	Propylthiouracil	Propylthiouracil results in increased expression of ADGRL2 mRNA	24780913; 25825206;
D011794	Quercetin	Quercetin results in decreased expression of ADGRL2 mRNA	21632981
C041711	St. Thomas' Hospital cardioplegic solution	St. Thomas' Hospital cardioplegic solution results in decreased expression of ADGRL2 mRNA	16214533
D000077210	Sunitinib	Sunitinib results in increased expression of ADGRL2 mRNA	31533062
C012568	terbufos	terbufos results in increased methylation of ADGRL2 promoter	22847954
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of ADGRL2 mRNA	20106945; 21632981;
D013749	Tetrachlorodibenzodioxin	[TIPARP gene mutant form results in increased susceptibility to Tetrachlorodibenzodioxin] which results in increased expression of ADGRL2 mRNA	25975270
C009495	titanium dioxide	titanium dioxide results in decreased expression of ADGRL2 mRNA	30012374
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of ADGRL2 mRNA	25729387
D019772	Topotecan	Topotecan results in increased expression of ADGRL2 mRNA	25729387
C032910	triadimefon	triadimefon affects the expression of ADGRL2 mRNA	21195148
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 ADGRL2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of ADGRL2 mRNA	24383497; 26272509; 28001369; 29154799;
D014638	Vanadates	Vanadates results in increased expression of ADGRL2 mRNA	22714537
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of ADGRL2 gene	25560391
D000077337	Vorinostat	Vorinostat results in increased expression of ADGRL2 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-1015	Disulfide bond
KW-0297	G-protein coupled receptor
KW-0325	Glycoprotein
KW-0430	Lectin
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0732	Signal
KW-0807	Transducer
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR032471	GAIN_dom_N
IPR017981	GPCR_2-like
IPR036445	GPCR_2_extracell_dom_sf
IPR001879	GPCR_2_extracellular_dom
IPR003924	GPCR_2_latrophilin
IPR003334	GPCR_2_latrophilin_rcpt_C
IPR000832	GPCR_2_secretin-like
IPR017983	GPCR_2_secretin-like_CS
IPR000203	GPS
IPR031240	Latrophilin-2
IPR000922	Lectin_gal-bd_dom
IPR043159	Lectin_gal-bd_sf
IPR003112	Olfac-like_dom

PROSITE

PROSITE ID	PROSITE Term
PS00650	G_PROTEIN_RECEP_F2_2
PS50227	G_PROTEIN_RECEP_F2_3
PS50261	G_PROTEIN_RECEP_F2_4
PS50221	GPS
PS51132	OLF
PS50228	SUEL_LECTIN

Pfam

Pfam ID	Pfam Term
PF00002	7tm_2
PF16489	GAIN
PF02140	Gal_Lectin
PF01825	GPS
PF02793	HRM
PF02354	Latrophilin
PF02191	OLF

Gene: ADGRL2

Basic information

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-miRNA interaction