CleftGeneDB-Search

Gene: COL4A2

Basic information

Tag	Content
Uniprot ID	P08572; Q14052; Q548C3; Q5VZA9; Q66K23;
Entrez ID	1284
Genbank protein ID	AAA52043.1; AAF72631.1; AAR20245.1; AAK92479.1; AAH80644.1; AAA58422.1; AAR18250.1; AAA53097.1; CAA31275.1; CAA29076.1; AAA53099.1; CAA29098.1;
Genbank nucleotide ID	NM_001846.3
Ensembl protein ID	ENSP00000353654
Ensembl nucleotide ID	ENSG00000134871
Gene name	Collagen alpha-2(IV) chain
Gene symbol	COL4A2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26449438
Functional description	Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.
Sequence	MGRDQRAVAG PALRRWLLLG TVTVGFLAQS VLAGVKKFDV PCGGRDCSGG CQCYPEKGGR 60 GQPGPVGPQG YNGPPGLQGF PGLQGRKGDK GERGAPGVTG PKGDVGARGV SGFPGADGIP 120 GHPGQGGPRG RPGYDGCNGT QGDSGPQGPP GSEGFTGPPG PQGPKGQKGE PYALPKEERD 180 RYRGEPGEPG LVGFQGPPGR PGHVGQMGPV GAPGRPGPPG PPGPKGQQGN RGLGFYGVKG 240 EKGDVGQPGP NGIPSDTLHP IIAPTGVTFH PDQYKGEKGS EGEPGIRGIS LKGEEGIMGF 300 PGLRGYPGLS GEKGSPGQKG SRGLDGYQGP DGPRGPKGEA GDPGPPGLPA YSPHPSLAKG 360 ARGDPGFPGA QGEPGSQGEP GDPGLPGPPG LSIGDGDQRR GLPGEMGPKG FIGDPGIPAL 420 YGGPPGPDGK RGPPGPPGLP GPPGPDGFLF GLKGAKGRAG FPGLPGSPGA RGPKGWKGDA 480 GECRCTEGDE AIKGLPGLPG PKGFAGINGE PGRKGDRGDP GQHGLPGFPG LKGVPGNIGA 540 PGPKGAKGDS RTITTKGERG QPGVPGVPGM KGDDGSPGRD GLDGFPGLPG PPGDGIKGPP 600 GDPGYPGIPG TKGTPGEMGP PGLGLPGLKG QRGFPGDAGL PGPPGFLGPP GPAGTPGQID 660 CDTDVKRAVG GDRQEAIQPG CIGGPKGLPG LPGPPGPTGA KGLRGIPGFA GADGGPGPRG 720 LPGDAGREGF PGPPGFIGPR GSKGAVGLPG PDGSPGPIGL PGPDGPPGER GLPGEVLGAQ 780 PGPRGDAGVP GQPGLKGLPG DRGPPGFRGS QGMPGMPGLK GQPGLPGPSG QPGLYGPPGL 840 HGFPGAPGQE GPLGLPGIPG REGLPGDRGD PGDTGAPGPV GMKGLSGDRG DAGFTGEQGH 900 PGSPGFKGID GMPGTPGLKG DRGSPGMDGF QGMPGLKGRP GFPGSKGEAG FFGIPGLKGL 960 AGEPGFKGSR GDPGPPGPPP VILPGMKDIK GEKGDEGPMG LKGYLGAKGI QGMPGIPGLS 1020 GIPGLPGRPG HIKGVKGDIG VPGIPGLPGF PGVAGPPGIT GFPGFIGSRG DKGAPGRAGL 1080 YGEIGATGDF GDIGDTINLP GRPGLKGERG TTGIPGLKGF FGEKGTEGDI GFPGITGVTG 1140 VQGPPGLKGQ TGFPGLTGPP GSQGELGRIG LPGGKGDDGW PGAPGLPGFP GLRGIRGLHG 1200 LPGTKGFPGS PGSDIHGDPG FPGPPGERGD PGEANTLPGP VGVPGQKGDQ GAPGERGPPG 1260 SPGLQGFPGI TPPSNISGAP GDKGAPGIFG LKGYRGPPGP PGSAALPGSK GDTGNPGAPG 1320 TPGTKGWAGD SGPQGRPGVF GLPGEKGPRG EQGFMGNTGP TGAVGDRGPK GPKGDPGFPG 1380 APGTVGAPGI AGIPQKIAVQ PGTVGPQGRR GPPGAPGEMG PQGPPGEPGF RGAPGKAGPQ 1440 GRGGVSAVPG FRGDEGPIGH QGPIGQEGAP GRPGSPGLPG MPGRSVSIGY LLVKHSQTDQ 1500 EPMCPVGMNK LWSGYSLLYF EGQEKAHNQD LGLAGSCLAR FSTMPFLYCN PGDVCYYASR 1560 NDKSYWLSTT APLPMMPVAE DEIKPYISRC SVCEAPAIAI AVHSQDVSIP HCPAGWRSLW 1620 IGYSFLMHTA AGDEGGGQSL VSPGSCLEDF RATPFIECNG GRGTCHYYAN KYSFWLTTIP 1680 EQSFQGSPSA DTLKAGLIRT HISRCQVCMK NL 1712

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1LI1
5NAX
5NB2
6MPX
1LI1
5NAX

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	COL4A2		A0A452G6J0	Capra hircus	Prediction	More>>
1:1 ortholog	COL4A2	1284	P08572	Homo sapiens	Publication	More>>
1:1 ortholog	Col4a2	12827	P08122	Mus musculus	Prediction	More>>
1:1 ortholog	COL4A2	452661	K7C8W0	Pan troglodytes	Prediction	More>>
1:1 ortholog	COL4A2		F1RLL9	Sus scrofa	Prediction	More>>
1:1 ortholog	Col4a2		F1M6Q3	Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
COL4A2	c.4096G>A; p.D1366N	WES and Sanger sequencing	26449438

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs752976373	p.Gly2Arg	missense variant	-	NC_000013.11:g.110307907G>C	ExAC,TOPMed,gnomAD
rs752976373	p.Gly2Arg	missense variant	-	NC_000013.11:g.110307907G>A	ExAC,TOPMed,gnomAD
COSM3688612	p.Gly2Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110307908G>A	NCI-TCGA Cosmic
COSM3793122	p.Arg3Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110307911G>A	NCI-TCGA Cosmic
rs1459593367	p.Asp4Val	missense variant	-	NC_000013.11:g.110307914A>T	gnomAD
rs376455394	p.Asp4Asn	missense variant	-	NC_000013.11:g.110307913G>A	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Asp4Ala	missense variant	-	NC_000013.11:g.110307914A>C	NCI-TCGA
rs771611881	p.Gln5Arg	missense variant	-	NC_000013.11:g.110307917A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln5Lys	missense variant	-	NC_000013.11:g.110307916C>A	NCI-TCGA
rs779582946	p.Arg6Ser	missense variant	-	NC_000013.11:g.110307919C>A	ExAC,TOPMed,gnomAD
rs1189428009	p.Arg6His	missense variant	-	NC_000013.11:g.110307920G>A	gnomAD
rs1189428009	p.Arg6Leu	missense variant	-	NC_000013.11:g.110307920G>T	gnomAD
rs369679874	p.Ala7Val	missense variant	-	NC_000013.11:g.110307923C>T	ESP,ExAC,TOPMed,gnomAD
rs746474992	p.Ala7Ser	missense variant	-	NC_000013.11:g.110307922G>T	ExAC,gnomAD
rs1394404007	p.Ala9Val	missense variant	-	NC_000013.11:g.110307929C>T	TOPMed
rs1414359914	p.Ala9Thr	missense variant	-	NC_000013.11:g.110307928G>A	TOPMed,gnomAD
COSM6138550	p.Pro11His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110307935C>A	NCI-TCGA Cosmic
rs773108336	p.Leu13Val	missense variant	-	NC_000013.11:g.110307940C>G	ExAC,gnomAD
rs374140752	p.Leu13Gln	missense variant	-	NC_000013.11:g.110307941T>A	ESP,ExAC,TOPMed,gnomAD
rs374140752	p.Leu13Arg	missense variant	-	NC_000013.11:g.110307941T>G	ESP,ExAC,TOPMed,gnomAD
rs1317141175	p.Arg14Trp	missense variant	-	NC_000013.11:g.110307943C>T	gnomAD
rs1324354794	p.Arg14Pro	missense variant	-	NC_000013.11:g.110307944G>C	gnomAD
rs1324354794	p.Arg14Gln	missense variant	-	NC_000013.11:g.110307944G>A	gnomAD
rs766265598	p.Arg15Gln	missense variant	-	NC_000013.11:g.110307947G>A	ExAC,gnomAD
rs1334037199	p.Trp16Cys	missense variant	-	NC_000013.11:g.110308072G>T	gnomAD
rs1334037199	p.Trp16Ter	stop gained	-	NC_000013.11:g.110308072G>A	gnomAD
rs200430407	p.Leu17Met	missense variant	-	NC_000013.11:g.110308073C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200430407	p.Leu17Val	missense variant	-	NC_000013.11:g.110308073C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu19Met	missense variant	-	NC_000013.11:g.110308079C>A	NCI-TCGA
rs1276497593	p.Gly20Glu	missense variant	-	NC_000013.11:g.110308083G>A	TOPMed,gnomAD
rs1043009281	p.Thr23Ala	missense variant	-	NC_000013.11:g.110308091A>G	TOPMed
rs745779326	p.Gly25Trp	missense variant	-	NC_000013.11:g.110308097G>T	ExAC,gnomAD
rs1338618226	p.Ala28Thr	missense variant	-	NC_000013.11:g.110308106G>A	gnomAD
rs775319592	p.Ser30Arg	missense variant	-	NC_000013.11:g.110308114C>G	ExAC,gnomAD
rs367984136	p.Ser30Asn	missense variant	-	NC_000013.11:g.110308113G>A	ESP,ExAC,TOPMed,gnomAD
rs367984136	p.Ser30Thr	missense variant	-	NC_000013.11:g.110308113G>C	ESP,ExAC,TOPMed,gnomAD
rs760739260	p.Val31Ala	missense variant	-	NC_000013.11:g.110308116T>C	ExAC,TOPMed,gnomAD
rs1170159832	p.Leu32Ter	stop gained	-	NC_000013.11:g.110308119T>A	gnomAD
rs1038667228	p.Gly34Val	missense variant	-	NC_000013.11:g.110357473G>T	gnomAD
rs745622067	p.Gly34Ser	missense variant	-	NC_000013.11:g.110357472G>A	ExAC,gnomAD
rs1038667228	p.Gly34Asp	missense variant	-	NC_000013.11:g.110357473G>A	gnomAD
rs1342108057	p.Asp39Val	missense variant	-	NC_000013.11:g.110357488A>T	TOPMed,gnomAD
rs1342108057	p.Asp39Ala	missense variant	-	NC_000013.11:g.110357488A>C	TOPMed,gnomAD
rs540581830	p.Pro41Ser	missense variant	-	NC_000013.11:g.110357493C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs933086493	p.Pro41Leu	missense variant	-	NC_000013.11:g.110357494C>T	TOPMed,gnomAD
rs540581830	p.Pro41Ala	missense variant	-	NC_000013.11:g.110357493C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1210091787	p.Gly44Arg	missense variant	-	NC_000013.11:g.110357502G>A	gnomAD
rs1260883965	p.Gly44Glu	missense variant	-	NC_000013.11:g.110357503G>A	TOPMed,gnomAD
COSM945356	p.Gly44Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.110357502G>T	NCI-TCGA Cosmic
rs1053256164	p.Ser48Asn	missense variant	-	NC_000013.11:g.110357515G>A	TOPMed,gnomAD
rs1053256164	p.Ser48Ile	missense variant	-	NC_000013.11:g.110357515G>T	TOPMed,gnomAD
rs776901298	p.Gly49Glu	missense variant	-	NC_000013.11:g.110357518G>A	ExAC,gnomAD
rs1203070183	p.Gly49Arg	missense variant	-	NC_000013.11:g.110357517G>A	gnomAD
rs762006517	p.Gln52Pro	missense variant	-	NC_000013.11:g.110357527A>C	ExAC,gnomAD
rs1189244987	p.Cys53Tyr	missense variant	-	NC_000013.11:g.110357530G>A	gnomAD
rs1011806709	p.Pro55Leu	missense variant	-	NC_000013.11:g.110357536C>T	TOPMed,gnomAD
rs372234966	p.Pro55Thr	missense variant	-	NC_000013.11:g.110357535C>A	ESP,ExAC,TOPMed,gnomAD
rs1345921487	p.Gly58Arg	missense variant	-	NC_000013.11:g.110357544G>C	gnomAD
rs773576081	p.Arg60Gly	missense variant	-	NC_000013.11:g.110357550C>G	ExAC,TOPMed,gnomAD
rs773576081	p.Arg60Cys	missense variant	-	NC_000013.11:g.110357550C>T	ExAC,TOPMed,gnomAD
rs773576081	p.Arg60Ser	missense variant	-	NC_000013.11:g.110357550C>A	ExAC,TOPMed,gnomAD
rs763322641	p.Arg60His	missense variant	-	NC_000013.11:g.110357551G>A	ExAC,TOPMed,gnomAD
rs1465330837	p.Gly61Ala	missense variant	-	NC_000013.11:g.110424735G>C	TOPMed
NCI-TCGA novel	p.Pro63His	missense variant	-	NC_000013.11:g.110424741C>A	NCI-TCGA
rs376916470	p.Pro65Gln	missense variant	-	NC_000013.11:g.110424747C>A	ESP,ExAC,gnomAD
rs376916470	p.Pro65Leu	missense variant	-	NC_000013.11:g.110424747C>T	ESP,ExAC,gnomAD
rs775980504	p.Val66Leu	missense variant	-	NC_000013.11:g.110424749G>T	ExAC,gnomAD
rs1175562839	p.Gln69Ter	stop gained	-	NC_000013.11:g.110424758C>T	gnomAD
rs1175562839	p.Gln69Glu	missense variant	-	NC_000013.11:g.110424758C>G	gnomAD
NCI-TCGA novel	p.Gln69ArgPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.110424754C>-	NCI-TCGA
rs1255059662	p.Tyr71Ter	stop gained	-	NC_000013.11:g.110424766C>A	gnomAD
rs1478186039	p.Gly73Val	missense variant	-	NC_000013.11:g.110424771G>T	TOPMed
rs761254454	p.Pro75Leu	missense variant	-	NC_000013.11:g.110424777C>T	ExAC,gnomAD
rs750061237	p.Pro81Leu	missense variant	-	NC_000013.11:g.110424795C>T	ExAC,TOPMed,gnomAD
COSM696008	p.Pro81Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110424795C>A	NCI-TCGA Cosmic
COSM3399229	p.Gly82Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110424797G>A	NCI-TCGA Cosmic
rs1353893351	p.Leu83Met	missense variant	-	NC_000013.11:g.110424800C>A	gnomAD
rs766078584	p.Leu83Pro	missense variant	-	NC_000013.11:g.110424801T>C	ExAC,TOPMed,gnomAD
rs1294757187	p.Gly85Arg	missense variant	-	NC_000013.11:g.110424806G>A	gnomAD
rs751272301	p.Arg86His	missense variant	-	NC_000013.11:g.110424810G>A	ExAC,TOPMed,gnomAD
COSM4045958	p.Lys87Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110424813A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly88Glu	missense variant	-	NC_000013.11:g.110424816G>A	NCI-TCGA
rs1300867171	p.Asp89Gly	missense variant	-	NC_000013.11:g.110424819A>G	gnomAD
COSM6138549	p.Asp89Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110424818G>A	NCI-TCGA Cosmic
COSM3872845	p.Gly91Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110424824G>A	NCI-TCGA Cosmic
rs1369172496	p.Arg93Lys	missense variant	-	NC_000013.11:g.110424831G>A	gnomAD
rs754829210	p.Ala95Asp	missense variant	-	NC_000013.11:g.110424837C>A	ExAC,gnomAD
rs754829210	p.Ala95Val	missense variant	-	NC_000013.11:g.110424837C>T	ExAC,gnomAD
rs748157227	p.Pro96Arg	missense variant	-	NC_000013.11:g.110424840C>G	ExAC,gnomAD
rs748157227	p.Pro96Leu	missense variant	-	NC_000013.11:g.110424840C>T	ExAC,gnomAD
rs531542947	p.Gly97Arg	missense variant	-	NC_000013.11:g.110424842G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs749501904	p.Gly97Glu	missense variant	-	NC_000013.11:g.110424843G>A	ExAC,TOPMed,gnomAD
RCV000623549	p.Gly97Glu	missense variant	Inborn genetic diseases	NC_000013.11:g.110424843G>A	ClinVar
rs1251400296	p.Gly100Ter	stop gained	-	NC_000013.11:g.110424851G>T	gnomAD
rs1476249623	p.Gly100Val	missense variant	-	NC_000013.11:g.110424852G>T	gnomAD
rs774660355	p.Pro101His	missense variant	-	NC_000013.11:g.110424855C>A	ExAC,gnomAD
rs1302254625	p.Lys102Arg	missense variant	-	NC_000013.11:g.110424858A>G	gnomAD
NCI-TCGA novel	p.Lys102Asn	missense variant	-	NC_000013.11:g.110424859G>T	NCI-TCGA
rs376081023	p.Asp104Asn	missense variant	-	NC_000013.11:g.110424863G>A	ESP,ExAC,TOPMed,gnomAD
rs772439696	p.Val105Met	missense variant	-	NC_000013.11:g.110424866G>A	ExAC,TOPMed,gnomAD
RCV000784946	p.Val105Met	missense variant	Porencephaly 2 (BSVD2)	NC_000013.11:g.110424866G>A	ClinVar
rs932645606	p.Ala107Val	missense variant	-	NC_000013.11:g.110424957C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala107Thr	missense variant	-	NC_000013.11:g.110424956G>A	NCI-TCGA
rs1283852136	p.Arg108Thr	missense variant	-	NC_000013.11:g.110424960G>C	TOPMed,gnomAD
rs537746077	p.Val110Ile	missense variant	-	NC_000013.11:g.110424965G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs769112358	p.Ser111Ala	missense variant	-	NC_000013.11:g.110424968T>G	ExAC,TOPMed,gnomAD
rs1258066947	p.Phe113Leu	missense variant	-	NC_000013.11:g.110424974T>C	gnomAD
rs1485297823	p.Pro114Leu	missense variant	-	NC_000013.11:g.110424978C>T	gnomAD
rs777200276	p.Ala116Val	missense variant	-	NC_000013.11:g.110424984C>T	ExAC,gnomAD
rs374976511	p.Asp117Asn	missense variant	-	NC_000013.11:g.110424986G>A	ESP,ExAC,TOPMed,gnomAD
rs1470242849	p.Asp117Glu	missense variant	-	NC_000013.11:g.110424988T>A	gnomAD
rs374976511	p.Asp117His	missense variant	-	NC_000013.11:g.110424986G>C	ESP,ExAC,TOPMed,gnomAD
rs773874575	p.Pro120Leu	missense variant	-	NC_000013.11:g.110424996C>T	ExAC,gnomAD
rs1368191320	p.His122Tyr	missense variant	-	NC_000013.11:g.110428470C>T	TOPMed
rs770319113	p.Pro123Leu	missense variant	-	NC_000013.11:g.110428474C>T	ExAC,gnomAD
rs774055891	p.Gly126Cys	missense variant	-	NC_000013.11:g.110428482G>T	ExAC,TOPMed,gnomAD
rs759136489	p.Gly127Arg	missense variant	-	NC_000013.11:g.110428485G>A	ExAC,gnomAD
rs372136410	p.Pro128Arg	missense variant	-	NC_000013.11:g.110428489C>G	ESP,ExAC,gnomAD
rs975120661	p.Pro128Ser	missense variant	-	NC_000013.11:g.110428488C>T	TOPMed,gnomAD
RCV000521004	p.Pro128Ser	missense variant	-	NC_000013.11:g.110428488C>T	ClinVar
rs376759822	p.Arg129Gly	missense variant	-	NC_000013.11:g.110428491A>G	1000Genomes,ESP,TOPMed,gnomAD
rs760487331	p.Gly130Arg	missense variant	-	NC_000013.11:g.110428494G>A	ExAC,gnomAD
COSM3467212	p.Gly130Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110428495G>A	NCI-TCGA Cosmic
rs764008176	p.Arg131Met	missense variant	-	NC_000013.11:g.110428498G>T	ExAC,TOPMed,gnomAD
rs916020834	p.Arg131Gly	missense variant	-	NC_000013.11:g.110428497A>G	TOPMed
rs199561972	p.Pro132Arg	missense variant	-	NC_000013.11:g.110428501C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000386592	p.Pro132Leu	missense variant	Porencephalic cyst	NC_000013.11:g.110428501C>T	ClinVar
rs199561972	p.Pro132Leu	missense variant	-	NC_000013.11:g.110428501C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199551935	p.Gly133Val	missense variant	-	NC_000013.11:g.110428504G>T	ESP,ExAC,TOPMed,gnomAD
rs199551935	p.Gly133Asp	missense variant	-	NC_000013.11:g.110428504G>A	ESP,ExAC,TOPMed,gnomAD
rs369865437	p.Asp135Asn	missense variant	-	NC_000013.11:g.110428509G>A	ESP,ExAC,TOPMed,gnomAD
RCV000658252	p.Asp135Asn	missense variant	-	NC_000013.11:g.110428509G>A	ClinVar
rs1454056357	p.Cys137Tyr	missense variant	-	NC_000013.11:g.110428516G>A	TOPMed,gnomAD
rs748583996	p.Gly139Glu	missense variant	-	NC_000013.11:g.110428522G>A	ExAC,gnomAD
RCV000294716	p.Gly139Arg	missense variant	Porencephalic cyst	NC_000013.11:g.110428521G>A	ClinVar
rs373792475	p.Gly139Arg	missense variant	-	NC_000013.11:g.110428521G>A	ESP,ExAC,TOPMed,gnomAD
rs756592284	p.Gln141Arg	missense variant	-	NC_000013.11:g.110428528A>G	ExAC,gnomAD
rs1167888205	p.Gln141Ter	stop gained	-	NC_000013.11:g.110428527C>T	gnomAD
NCI-TCGA novel	p.Gly142Glu	missense variant	-	NC_000013.11:g.110428531G>A	NCI-TCGA
rs1302849404	p.Gly148Arg	missense variant	-	NC_000013.11:g.110428548G>A	TOPMed
rs548601003	p.Pro149Ala	missense variant	-	NC_000013.11:g.110428551C>G	1000Genomes,ExAC,gnomAD
rs746743018	p.Gly151Ser	missense variant	-	NC_000013.11:g.110428557G>A	ExAC,TOPMed,gnomAD
COSM1248854	p.Gly151AlaPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.110428551C>-	NCI-TCGA Cosmic
rs1279465314	p.Ser152Pro	missense variant	-	NC_000013.11:g.110428560T>C	TOPMed
rs375700657	p.Gly154Glu	missense variant	-	NC_000013.11:g.110428567G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375700657	p.Gly154Val	missense variant	-	NC_000013.11:g.110428567G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1372828071	p.Phe155Leu	missense variant	-	NC_000013.11:g.110428569T>C	TOPMed
rs763008271	p.Gly157Glu	missense variant	-	NC_000013.11:g.110428576G>A	ExAC,gnomAD
rs773147531	p.Gly157Arg	missense variant	-	NC_000013.11:g.110428575G>A	ExAC,TOPMed,gnomAD
rs1487292526	p.Pro158Ser	missense variant	-	NC_000013.11:g.110428578C>T	gnomAD
rs766515564	p.Pro159Ser	missense variant	-	NC_000013.11:g.110428581C>T	ExAC,TOPMed,gnomAD
rs756484014	p.Pro161Ser	missense variant	-	NC_000013.11:g.110429888C>T	ExAC,TOPMed,gnomAD
COSM3467213	p.Gly163Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110429895G>A	NCI-TCGA Cosmic
rs764619902	p.Pro164Ala	missense variant	-	NC_000013.11:g.110429897C>G	ExAC,gnomAD
rs755371182	p.Pro164Gln	missense variant	-	NC_000013.11:g.110429898C>A	ExAC,TOPMed,gnomAD
COSM74222	p.Pro164Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110429897C>T	NCI-TCGA Cosmic
rs1212158888	p.Gln167Arg	missense variant	-	NC_000013.11:g.110429907A>G	gnomAD
rs1384966066	p.Lys168Gln	missense variant	-	NC_000013.11:g.110429909A>C	TOPMed
rs1347164251	p.Pro171Leu	missense variant	-	NC_000013.11:g.110429919C>T	TOPMed
rs1482277442	p.Tyr172Ter	stop gained	-	NC_000013.11:g.110429923T>A	gnomAD
rs757886951	p.Ala173Ser	missense variant	-	NC_000013.11:g.110429924G>T	ExAC,gnomAD
COSM945357	p.Ala173Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110429924G>A	NCI-TCGA Cosmic
rs779584979	p.Leu174Pro	missense variant	-	NC_000013.11:g.110429928T>C	ExAC,gnomAD
rs1251407490	p.Leu174Val	missense variant	-	NC_000013.11:g.110429927C>G	TOPMed,gnomAD
rs1177045158	p.Pro175Thr	missense variant	-	NC_000013.11:g.110429930C>A	TOPMed,gnomAD
rs1177045158	p.Pro175Ser	missense variant	-	NC_000013.11:g.110429930C>T	TOPMed,gnomAD
rs751015466	p.Arg179Cys	missense variant	-	NC_000013.11:g.110429942C>T	ExAC,gnomAD
rs1435128650	p.Arg179His	missense variant	-	NC_000013.11:g.110429943G>A	gnomAD
rs568655744	p.Asp180Asn	missense variant	-	NC_000013.11:g.110429945G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp180ThrPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.110429945G>-	NCI-TCGA
rs535492357	p.Tyr182Ter	stop gained	-	NC_000013.11:g.110429953T>A	ExAC,TOPMed,gnomAD
rs374251565	p.Arg183Gln	missense variant	-	NC_000013.11:g.110429955G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374251565	p.Arg183Pro	missense variant	-	NC_000013.11:g.110429955G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201457127	p.Arg183Trp	missense variant	-	NC_000013.11:g.110429954C>T	ESP,ExAC,gnomAD
rs1555328401	p.Gly184Asp	missense variant	-	NC_000013.11:g.110430402G>A	-
RCV000626813	p.Gly184Asp	missense variant	-	NC_000013.11:g.110430402G>A	ClinVar
rs1275221618	p.Glu185Gly	missense variant	-	NC_000013.11:g.110430405A>G	gnomAD
rs749012559	p.Pro186Leu	missense variant	-	NC_000013.11:g.110430408C>T	ExAC,gnomAD
rs1450854200	p.Pro186Ser	missense variant	-	NC_000013.11:g.110430407C>T	TOPMed
rs770721562	p.Glu188Gln	missense variant	-	NC_000013.11:g.110430413G>C	ExAC,gnomAD
COSM4926830	p.Glu188Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110430414A>G	NCI-TCGA Cosmic
rs1486755357	p.Gly190Arg	missense variant	-	NC_000013.11:g.110430419G>C	gnomAD
rs62621885	p.Val192Phe	missense variant	-	NC_000013.11:g.110430425G>T	UniProt,dbSNP
VAR_067551	p.Val192Phe	missense variant	-	NC_000013.11:g.110430425G>T	UniProt
rs62621885	p.Val192Phe	missense variant	-	NC_000013.11:g.110430425G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000397389	p.Val192Phe	missense variant	Porencephalic cyst	NC_000013.11:g.110430425G>T	ClinVar
rs775479003	p.Gly193Ser	missense variant	-	NC_000013.11:g.110430428G>A	ExAC,TOPMed,gnomAD
COSM4501251	p.Gln195Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.110430434C>T	NCI-TCGA Cosmic
rs758220603	p.Gly196Arg	missense variant	-	NC_000013.11:g.110430545G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro198Ser	missense variant	-	NC_000013.11:g.110430551C>T	NCI-TCGA
rs750358950	p.Gly199Ser	missense variant	-	NC_000013.11:g.110430554G>A	ExAC,TOPMed,gnomAD
rs748422794	p.Arg200Pro	missense variant	-	NC_000013.11:g.110430558G>C	ExAC,TOPMed,gnomAD
rs748422794	p.Arg200His	missense variant	-	NC_000013.11:g.110430558G>A	ExAC,TOPMed,gnomAD
rs1384344513	p.Arg200Cys	missense variant	-	NC_000013.11:g.110430557C>T	gnomAD
NCI-TCGA novel	p.Gly202Trp	missense variant	-	NC_000013.11:g.110430563G>T	NCI-TCGA
rs1201943787	p.His203Asp	missense variant	-	NC_000013.11:g.110430566C>G	TOPMed
rs201716258	p.His203Leu	missense variant	-	NC_000013.11:g.110430567A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201716258	p.His203Arg	missense variant	-	NC_000013.11:g.110430567A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs959464417	p.Val204Met	missense variant	-	NC_000013.11:g.110430569G>A	TOPMed
rs1323447578	p.Gly205Glu	missense variant	-	NC_000013.11:g.110430573G>A	TOPMed
NCI-TCGA novel	p.Gly205Ter	stop gained	-	NC_000013.11:g.110430572G>T	NCI-TCGA
NCI-TCGA novel	p.Gln206Ter	stop gained	-	NC_000013.11:g.110430575C>T	NCI-TCGA
NCI-TCGA novel	p.Met207Lys	missense variant	-	NC_000013.11:g.110430579T>A	NCI-TCGA
rs552174744	p.Val210Ala	missense variant	-	NC_000013.11:g.110430588T>C	1000Genomes,ExAC,gnomAD
rs552174744	p.Val210Gly	missense variant	-	NC_000013.11:g.110430588T>G	1000Genomes,ExAC,gnomAD
rs1035460729	p.Ala212Val	missense variant	-	NC_000013.11:g.110430594C>T	TOPMed
rs774849640	p.Gly214Val	missense variant	-	NC_000013.11:g.110430600G>T	ExAC,gnomAD
COSM4395907	p.Gly214Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110430600G>A	NCI-TCGA Cosmic
rs1375779141	p.Arg215Gly	missense variant	-	NC_000013.11:g.110430602A>G	gnomAD
rs760161017	p.Pro216Ser	missense variant	-	NC_000013.11:g.110430605C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly217Arg	missense variant	-	NC_000013.11:g.110432325G>A	NCI-TCGA
NCI-TCGA novel	p.Pro219Leu	missense variant	-	NC_000013.11:g.110432332C>T	NCI-TCGA
rs759411600	p.Pro221Leu	missense variant	-	NC_000013.11:g.110432338C>T	ExAC,gnomAD
rs759102501	p.Pro221Thr	missense variant	-	NC_000013.11:g.110432337C>A	gnomAD
NCI-TCGA novel	p.Pro221His	missense variant	-	NC_000013.11:g.110432338C>A	NCI-TCGA
rs1311495152	p.Pro222Ser	missense variant	-	NC_000013.11:g.110432340C>T	gnomAD
NCI-TCGA novel	p.Pro222His	missense variant	-	NC_000013.11:g.110432341C>A	NCI-TCGA
rs1240828595	p.Pro224Thr	missense variant	-	NC_000013.11:g.110432346C>A	gnomAD
NCI-TCGA novel	p.Gly226Glu	missense variant	-	NC_000013.11:g.110432353G>A	NCI-TCGA
rs748782321	p.Gly229Asp	missense variant	-	NC_000013.11:g.110434402G>A	ExAC,gnomAD
rs774164150	p.Arg231Lys	missense variant	-	NC_000013.11:g.110434408G>A	ExAC,gnomAD
NCI-TCGA novel	p.Phe235Val	missense variant	-	NC_000013.11:g.110434419T>G	NCI-TCGA
rs767482731	p.Tyr236His	missense variant	-	NC_000013.11:g.110434422T>C	ExAC,gnomAD
rs1294088315	p.Gly237Arg	missense variant	-	NC_000013.11:g.110434425G>A	TOPMed
rs1463099199	p.Lys242Asn	missense variant	-	NC_000013.11:g.110434442G>C	TOPMed,gnomAD
rs144319016	p.Asp244Glu	missense variant	-	NC_000013.11:g.110436274C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3813397	p.Asp244Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110436272G>A	NCI-TCGA Cosmic
rs371879428	p.Val245Ile	missense variant	-	NC_000013.11:g.110436275G>A	ESP,ExAC,TOPMed,gnomAD
rs746759612	p.Val245Glu	missense variant	-	NC_000013.11:g.110436276T>A	ExAC,gnomAD
rs746759612	p.Val245Gly	missense variant	-	NC_000013.11:g.110436276T>G	ExAC,gnomAD
rs371879428	p.Val245Ile	missense variant	-	NC_000013.11:g.110436275G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1464412235	p.Gly246Glu	missense variant	-	NC_000013.11:g.110436279G>A	TOPMed
NCI-TCGA novel	p.Pro248Ala	missense variant	-	NC_000013.11:g.110436284C>G	NCI-TCGA
rs867040906	p.Pro250Arg	missense variant	-	NC_000013.11:g.110436291C>G	gnomAD
rs867040906	p.Pro250Leu	missense variant	-	NC_000013.11:g.110436291C>T	gnomAD
rs201393883	p.Asn251Ser	missense variant	-	NC_000013.11:g.110436294A>G	ExAC,TOPMed,gnomAD
COSM3467214	p.Gly252Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110436297G>A	NCI-TCGA Cosmic
rs1472258738	p.Pro254Ser	missense variant	-	NC_000013.11:g.110436302C>T	gnomAD
COSM4848545	p.Asp256Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110436308G>T	NCI-TCGA Cosmic
rs1383709300	p.Thr257Asn	missense variant	-	NC_000013.11:g.110436312C>A	TOPMed,gnomAD
rs1383709300	p.Thr257Ile	missense variant	-	NC_000013.11:g.110436312C>T	TOPMed,gnomAD
rs1383709300	p.Thr257Ile	missense variant	-	NC_000013.11:g.110436312C>T	NCI-TCGA Cosmic
rs1360473582	p.Pro260Ser	missense variant	-	NC_000013.11:g.110436320C>T	gnomAD
rs369814411	p.Ile261Met	missense variant	-	NC_000013.11:g.110436325C>G	ESP,ExAC,TOPMed,gnomAD
rs1399513860	p.Ile261Val	missense variant	-	NC_000013.11:g.110436323A>G	gnomAD
rs753229040	p.Ile262Ser	missense variant	-	NC_000013.11:g.110436327T>G	ExAC
rs756636787	p.Ala263Thr	missense variant	-	NC_000013.11:g.110436329G>A	ExAC,gnomAD
rs1447552664	p.Ala263Val	missense variant	-	NC_000013.11:g.110436330C>T	gnomAD
NCI-TCGA novel	p.Gly266Val	missense variant	-	NC_000013.11:g.110436339G>T	NCI-TCGA
rs1308326584	p.His270Arg	missense variant	-	NC_000013.11:g.110436351A>G	gnomAD
rs1351380678	p.Pro271Leu	missense variant	-	NC_000013.11:g.110436354C>T	TOPMed,gnomAD
COSM1243172	p.Pro271Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110436353C>T	NCI-TCGA Cosmic
rs1351153049	p.Asp272His	missense variant	-	NC_000013.11:g.110436356G>C	TOPMed
rs372108626	p.Asp272Glu	missense variant	-	NC_000013.11:g.110436358T>G	ESP,ExAC,gnomAD
rs746705508	p.Gln273Arg	missense variant	-	NC_000013.11:g.110436360A>G	ExAC,gnomAD
rs372917662	p.Gly276Val	missense variant	-	NC_000013.11:g.110438003G>T	ESP,ExAC,TOPMed,gnomAD
rs372917662	p.Gly276Asp	missense variant	-	NC_000013.11:g.110438003G>A	ESP,ExAC,TOPMed,gnomAD
rs545624331	p.Glu277Lys	missense variant	-	NC_000013.11:g.110438005G>A	1000Genomes
rs796211246	p.Gly279Val	missense variant	-	NC_000013.11:g.110438012G>T	TOPMed
rs377155355	p.Ser280Gly	missense variant	-	NC_000013.11:g.110438014A>G	ESP,ExAC,TOPMed,gnomAD
rs774242622	p.Ile286Thr	missense variant	-	NC_000013.11:g.110438033T>C	ExAC,gnomAD
rs1425142080	p.Arg287Thr	missense variant	-	NC_000013.11:g.110438036G>C	TOPMed
rs1330424611	p.Arg287Gly	missense variant	-	NC_000013.11:g.110438035A>G	TOPMed,gnomAD
rs1305493217	p.Gly288Ser	missense variant	-	NC_000013.11:g.110438618G>A	gnomAD
rs201902859	p.Gly288Ala	missense variant	-	NC_000013.11:g.110438619G>C	1000Genomes,ExAC
rs1305493217	p.Gly288Ser	missense variant	-	NC_000013.11:g.110438618G>A	NCI-TCGA
COSM4930461	p.Lys292Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110438631A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly293Arg	missense variant	-	NC_000013.11:g.110438633G>A	NCI-TCGA
rs1421971452	p.Glu295Ter	stop gained	-	NC_000013.11:g.110438639G>T	gnomAD
rs1241024948	p.Met298Thr	missense variant	-	NC_000013.11:g.110438649T>C	TOPMed
COSM6138547	p.Met298Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110438648A>T	NCI-TCGA Cosmic
rs750364763	p.Met298Val	missense variant	-	NC_000013.11:g.110438648A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met298Lys	missense variant	-	NC_000013.11:g.110438649T>A	NCI-TCGA
rs926806738	p.Gly299Ser	missense variant	-	NC_000013.11:g.110438651G>A	TOPMed
rs926806738	p.Gly299Cys	missense variant	-	NC_000013.11:g.110438651G>T	TOPMed
rs1321669035	p.Phe300Ile	missense variant	-	NC_000013.11:g.110438654T>A	gnomAD
rs775358778	p.Phe300Leu	missense variant	-	NC_000013.11:g.110438656T>A	ExAC,TOPMed,gnomAD
rs184596143	p.Phe300Tyr	missense variant	-	NC_000013.11:g.110438655T>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe300Ser	missense variant	-	NC_000013.11:g.110438655T>C	NCI-TCGA
rs377088851	p.Gly305Val	missense variant	-	NC_000013.11:g.110439790G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1198676957	p.Tyr306His	missense variant	-	NC_000013.11:g.110439792T>C	gnomAD
COSM696006	p.Gly308Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110439798G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu309PheLysAlaTerLysValMetTer	stop gained	-	NC_000013.11:g.110439802_110439803insTAAGGCCTAGAAGGTCATGTA	NCI-TCGA
rs200875510	p.Ser310Arg	missense variant	-	NC_000013.11:g.110439806T>A	ExAC,TOPMed,gnomAD
rs777979754	p.Ser310Gly	missense variant	-	NC_000013.11:g.110439804A>G	ExAC,gnomAD
rs1193877088	p.Gly311Asp	missense variant	-	NC_000013.11:g.110439808G>A	TOPMed,gnomAD
rs988440716	p.Glu312Lys	missense variant	-	NC_000013.11:g.110439810G>A	TOPMed
rs757680081	p.Gly314Arg	missense variant	-	NC_000013.11:g.110439816G>C	ExAC,gnomAD
rs779390986	p.Pro316Gln	missense variant	-	NC_000013.11:g.110439823C>A	ExAC,TOPMed,gnomAD
rs369491516	p.Pro316Ala	missense variant	-	NC_000013.11:g.110439822C>G	ESP,TOPMed,gnomAD
rs369491516	p.Pro316Ser	missense variant	-	NC_000013.11:g.110439822C>T	ESP,TOPMed,gnomAD
rs779390986	p.Pro316Arg	missense variant	-	NC_000013.11:g.110439823C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly317Val	missense variant	-	NC_000013.11:g.110439826G>T	NCI-TCGA
rs201690865	p.Gln318Leu	missense variant	-	NC_000013.11:g.110439829A>T	ExAC,TOPMed,gnomAD
rs768030086	p.Gln318Ter	stop gained	-	NC_000013.11:g.110439828C>T	ExAC,gnomAD
rs768030086	p.Gln318Ter	stop gained	-	NC_000013.11:g.110439828C>T	NCI-TCGA,NCI-TCGA Cosmic
rs201690865	p.Gln318Arg	missense variant	-	NC_000013.11:g.110439829A>G	ExAC,TOPMed,gnomAD
rs747643584	p.Lys319Asn	missense variant	-	NC_000013.11:g.110439833G>C	ExAC,gnomAD
rs1237717942	p.Arg322Ter	stop gained	-	NC_000013.11:g.110445835C>T	gnomAD
rs201640075	p.Arg322Gln	missense variant	-	NC_000013.11:g.110445836G>A	ESP,ExAC,TOPMed,gnomAD
rs1181529044	p.Leu324Pro	missense variant	-	NC_000013.11:g.110445842T>C	TOPMed
rs759250966	p.Asp325Asn	missense variant	-	NC_000013.11:g.110445844G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly329Ala	missense variant	-	NC_000013.11:g.110445857G>C	NCI-TCGA
rs1256447856	p.Pro330Ala	missense variant	-	NC_000013.11:g.110445859C>G	TOPMed
rs886049971	p.Asp331Gly	missense variant	-	NC_000013.11:g.110445863A>G	-
RCV000331421	p.Asp331Gly	missense variant	Porencephalic cyst	NC_000013.11:g.110445863A>G	ClinVar
COSM4856002	p.Asp331His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110445862G>C	NCI-TCGA Cosmic
rs760806699	p.Asp331Glu	missense variant	-	NC_000013.11:g.110445864T>G	ExAC,gnomAD
rs1178438876	p.Gly332Arg	missense variant	-	NC_000013.11:g.110445865G>A	gnomAD
rs1452238828	p.Pro333Leu	missense variant	-	NC_000013.11:g.110445869C>T	gnomAD
rs764202499	p.Pro333Thr	missense variant	-	NC_000013.11:g.110445868C>A	ExAC,TOPMed,gnomAD
rs547964880	p.Arg334Gly	missense variant	-	NC_000013.11:g.110445871C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201833952	p.Arg334Gln	missense variant	-	NC_000013.11:g.110445872G>A	ExAC,TOPMed,gnomAD
rs547964880	p.Arg334Trp	missense variant	-	NC_000013.11:g.110445871C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1355055637	p.Lys337Met	missense variant	-	NC_000013.11:g.110445881A>T	TOPMed
rs750733715	p.Lys337Glu	missense variant	-	NC_000013.11:g.110445880A>G	ExAC,gnomAD
rs751975195	p.Glu339Lys	missense variant	-	NC_000013.11:g.110446801G>A	ExAC,gnomAD
rs755498922	p.Glu339Ala	missense variant	-	NC_000013.11:g.110446802A>C	ExAC,gnomAD
rs369700024	p.Glu339Asp	missense variant	-	NC_000013.11:g.110446803A>C	ESP,ExAC,gnomAD
rs1475888052	p.Gly341Arg	missense variant	-	NC_000013.11:g.110446807G>A	gnomAD
rs756889937	p.Asp342His	missense variant	-	NC_000013.11:g.110446810G>C	ExAC,gnomAD
rs951552197	p.Pro343Ser	missense variant	-	NC_000013.11:g.110446813C>T	TOPMed,gnomAD
rs778627200	p.Pro345Ser	missense variant	-	NC_000013.11:g.110446819C>T	ExAC,TOPMed,gnomAD
rs778627200	p.Pro345Thr	missense variant	-	NC_000013.11:g.110446819C>A	ExAC,TOPMed,gnomAD
rs1402584778	p.Pro346Arg	missense variant	-	NC_000013.11:g.110446823C>G	TOPMed,gnomAD
COSM696003	p.Gly347Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.110446825G>T	NCI-TCGA Cosmic
COSM696001	p.Gly347Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110446826G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro349His	missense variant	-	NC_000013.11:g.110446832C>A	NCI-TCGA
rs983174616	p.Ala350Thr	missense variant	-	NC_000013.11:g.110446834G>A	TOPMed
NCI-TCGA novel	p.Ala350Val	missense variant	-	NC_000013.11:g.110446835C>T	NCI-TCGA
rs1265517785	p.Ala358Glu	missense variant	-	NC_000013.11:g.110446859C>A	gnomAD
rs761876101	p.Lys359Glu	missense variant	-	NC_000013.11:g.110446861A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly360ValPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.110446860A>-	NCI-TCGA
rs1453003886	p.Arg362Ser	missense variant	-	NC_000013.11:g.110449686A>C	gnomAD
rs1337787954	p.Asp364Tyr	missense variant	-	NC_000013.11:g.110449690G>T	gnomAD
rs746749693	p.Pro365Leu	missense variant	-	NC_000013.11:g.110449694C>T	ExAC,TOPMed,gnomAD
RCV000259618	p.Pro365Leu	missense variant	Porencephalic cyst	NC_000013.11:g.110449694C>T	ClinVar
rs1238393722	p.Pro368Thr	missense variant	-	NC_000013.11:g.110449702C>A	gnomAD
rs1259075777	p.Pro368Leu	missense variant	-	NC_000013.11:g.110449703C>T	gnomAD
rs909040713	p.Ala370Pro	missense variant	-	NC_000013.11:g.110449708G>C	TOPMed,gnomAD
rs1459840322	p.Glu373Gly	missense variant	-	NC_000013.11:g.110449718A>G	gnomAD
rs1178832851	p.Glu379Lys	missense variant	-	NC_000013.11:g.110449735G>A	gnomAD
rs1251131549	p.Glu379Gly	missense variant	-	NC_000013.11:g.110449736A>G	gnomAD
rs536453426	p.Pro383Leu	missense variant	-	NC_000013.11:g.110449748C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1179039757	p.Pro383Ser	missense variant	-	NC_000013.11:g.110449747C>T	gnomAD
rs933951989	p.Pro388Ser	missense variant	-	NC_000013.11:g.110449762C>T	TOPMed,gnomAD
rs933951989	p.Pro388Thr	missense variant	-	NC_000013.11:g.110449762C>A	TOPMed,gnomAD
rs933951989	p.Pro388Ala	missense variant	-	NC_000013.11:g.110449762C>G	TOPMed,gnomAD
rs1304939051	p.Gly390Val	missense variant	-	NC_000013.11:g.110449769G>T	TOPMed,gnomAD
rs1438056218	p.Leu391Phe	missense variant	-	NC_000013.11:g.110449771C>T	TOPMed
rs1347479950	p.Ser392Phe	missense variant	-	NC_000013.11:g.110449775C>T	gnomAD
rs74941798	p.Ile393Met	missense variant	-	NC_000013.11:g.110449779C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770998099	p.Gly394Ala	missense variant	-	NC_000013.11:g.110449781G>C	ExAC,gnomAD
rs866443796	p.Gly394Arg	missense variant	-	NC_000013.11:g.110449780G>A	TOPMed,gnomAD
rs1312167981	p.Asp395Gly	missense variant	-	NC_000013.11:g.110449784A>G	gnomAD
rs1206326010	p.Gly396Arg	missense variant	-	NC_000013.11:g.110449786G>A	gnomAD
COSM5132903	p.Gly396Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110449787G>A	NCI-TCGA Cosmic
rs746145513	p.Arg400Thr	missense variant	-	NC_000013.11:g.110450314G>C	ExAC,TOPMed,gnomAD
rs1289704454	p.Gly401Asp	missense variant	-	NC_000013.11:g.110450317G>A	gnomAD
rs1433079130	p.Gly401Ser	missense variant	-	NC_000013.11:g.110450316G>A	gnomAD
rs1333913921	p.Pro403Thr	missense variant	-	NC_000013.11:g.110450322C>A	TOPMed,gnomAD
rs772448912	p.Pro403Gln	missense variant	-	NC_000013.11:g.110450323C>A	ExAC,TOPMed,gnomAD
rs772448912	p.Pro403Leu	missense variant	-	NC_000013.11:g.110450323C>T	ExAC,TOPMed,gnomAD
RCV000293652	p.Pro403Leu	missense variant	Porencephalic cyst	NC_000013.11:g.110450323C>T	ClinVar
NCI-TCGA novel	p.Glu405Asp	missense variant	-	NC_000013.11:g.110450330G>T	NCI-TCGA
rs768988700	p.Pro408Ser	missense variant	-	NC_000013.11:g.110450337C>T	ExAC,gnomAD
rs749949054	p.Pro408Arg	missense variant	-	NC_000013.11:g.110450338C>G	ExAC,TOPMed,gnomAD
rs566329266	p.Ile412Val	missense variant	-	NC_000013.11:g.110450349A>G	1000Genomes,ExAC,gnomAD
rs1464563247	p.Gly413Arg	missense variant	-	NC_000013.11:g.110450352G>A	TOPMed
rs1464563247	p.Gly413Arg	missense variant	-	NC_000013.11:g.110450352G>A	NCI-TCGA Cosmic
rs1241136559	p.Asp414Glu	missense variant	-	NC_000013.11:g.110450357C>A	gnomAD
rs751089424	p.Asp414Ala	missense variant	-	NC_000013.11:g.110450356A>C	ExAC,gnomAD
rs1210621623	p.Gly416Ser	missense variant	-	NC_000013.11:g.110450361G>A	TOPMed
rs752427280	p.Ile417Thr	missense variant	-	NC_000013.11:g.110450365T>C	ExAC,gnomAD
COSM3467218	p.Pro418Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110450367C>T	NCI-TCGA Cosmic
RCV000329824	p.Ala419Val	missense variant	Porencephalic cyst	NC_000013.11:g.110450371C>T	ClinVar
rs72657933	p.Ala419Val	missense variant	-	NC_000013.11:g.110450371C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753858167	p.Leu420Pro	missense variant	-	NC_000013.11:g.110450374T>C	ExAC,TOPMed,gnomAD
rs779091629	p.Gly422Arg	missense variant	-	NC_000013.11:g.110450379G>A	ExAC,gnomAD
rs1338436328	p.Gly422Glu	missense variant	-	NC_000013.11:g.110450380G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro425Leu	missense variant	-	NC_000013.11:g.110450389C>T	NCI-TCGA
rs1451743441	p.Gly426Glu	missense variant	-	NC_000013.11:g.110450392G>A	gnomAD
NCI-TCGA novel	p.Gly426Arg	missense variant	-	NC_000013.11:g.110450391G>A	NCI-TCGA
rs1322010053	p.Pro427Ser	missense variant	-	NC_000013.11:g.110450394C>T	TOPMed
rs780436805	p.Pro427Arg	missense variant	-	NC_000013.11:g.110450395C>G	ExAC,TOPMed,gnomAD
rs780436805	p.Pro427Leu	missense variant	-	NC_000013.11:g.110450395C>T	ExAC,TOPMed,gnomAD
rs1283027266	p.Asp428Glu	missense variant	-	NC_000013.11:g.110450399T>A	gnomAD
rs376488796	p.Arg431Gln	missense variant	-	NC_000013.11:g.110450407G>A	ESP,ExAC,TOPMed,gnomAD
rs747324600	p.Arg431Gly	missense variant	-	NC_000013.11:g.110450406C>G	ExAC,TOPMed,gnomAD
rs747324600	p.Arg431Ter	stop gained	-	NC_000013.11:g.110450406C>T	ExAC,TOPMed,gnomAD
rs747324600	p.Arg431Ter	stop gained	-	NC_000013.11:g.110450406C>T	NCI-TCGA Cosmic
rs1265319405	p.Pro433Ser	missense variant	-	NC_000013.11:g.110450412C>T	gnomAD
rs776980571	p.Pro433Leu	missense variant	-	NC_000013.11:g.110450413C>T	ExAC,gnomAD
rs1183468410	p.Pro434Ser	missense variant	-	NC_000013.11:g.110450415C>T	gnomAD
rs1236205262	p.Pro434Leu	missense variant	-	NC_000013.11:g.110450416C>T	gnomAD
rs369506338	p.Pro436Arg	missense variant	-	NC_000013.11:g.110450422C>G	ESP,ExAC,TOPMed,gnomAD
rs570728234	p.Pro436Thr	missense variant	-	NC_000013.11:g.110450421C>A	1000Genomes,ExAC,gnomAD
rs570728234	p.Pro436Ser	missense variant	-	NC_000013.11:g.110450421C>T	1000Genomes,ExAC,gnomAD
rs369506338	p.Pro436Leu	missense variant	-	NC_000013.11:g.110450422C>T	ESP,ExAC,TOPMed,gnomAD
rs375372676	p.Pro437Ala	missense variant	-	NC_000013.11:g.110450424C>G	ESP,TOPMed,gnomAD
rs375372676	p.Pro437Ser	missense variant	-	NC_000013.11:g.110450424C>T	ESP,TOPMed,gnomAD
rs375372676	p.Pro437Ser	missense variant	-	NC_000013.11:g.110450424C>T	NCI-TCGA
rs1266666247	p.Gly438Arg	missense variant	-	NC_000013.11:g.110450427G>A	TOPMed
rs767139003	p.Pro440Thr	missense variant	-	NC_000013.11:g.110450433C>A	ExAC,TOPMed,gnomAD
rs752459272	p.Pro440Arg	missense variant	-	NC_000013.11:g.110450434C>G	ExAC,TOPMed,gnomAD
rs767139003	p.Pro440Ala	missense variant	-	NC_000013.11:g.110450433C>G	ExAC,TOPMed,gnomAD
rs753599916	p.Pro442Gln	missense variant	-	NC_000013.11:g.110450440C>A	NCI-TCGA
rs764002137	p.Pro442Ser	missense variant	-	NC_000013.11:g.110450439C>T	ExAC,TOPMed,gnomAD
rs753599916	p.Pro442Gln	missense variant	-	NC_000013.11:g.110450440C>A	ExAC,gnomAD
rs192250572	p.Pro443Arg	missense variant	-	NC_000013.11:g.110450443C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000290038	p.Pro443Arg	missense variant	Porencephalic cyst	NC_000013.11:g.110450443C>G	ClinVar
rs1224929858	p.Gly444Arg	missense variant	-	NC_000013.11:g.110450445G>A	gnomAD
NCI-TCGA novel	p.Asp446Asn	missense variant	-	NC_000013.11:g.110450451G>A	NCI-TCGA
rs753801111	p.Phe448Cys	missense variant	-	NC_000013.11:g.110457346T>G	TOPMed
COSM945359	p.Phe450Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110457352T>G	NCI-TCGA Cosmic
rs370700585	p.Gly451Glu	missense variant	-	NC_000013.11:g.110457355G>A	ESP,ExAC,TOPMed
NCI-TCGA novel	p.Lys453Glu	missense variant	-	NC_000013.11:g.110457360A>G	NCI-TCGA
COSM3467219	p.Gly454Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110457363G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys456Asn	missense variant	-	NC_000013.11:g.110457371A>C	NCI-TCGA
rs1387736913	p.Gly457Arg	missense variant	-	NC_000013.11:g.110457372G>A	gnomAD
rs762207321	p.Arg458Lys	missense variant	-	NC_000013.11:g.110457376G>A	ExAC,gnomAD
rs202017641	p.Ala459Thr	missense variant	-	NC_000013.11:g.110457378G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000394963	p.Ala459Thr	missense variant	Porencephalic cyst	NC_000013.11:g.110457378G>A	ClinVar
rs202017641	p.Ala459Ser	missense variant	-	NC_000013.11:g.110457378G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1245209457	p.Gly463Glu	missense variant	-	NC_000013.11:g.110457391G>A	TOPMed
NCI-TCGA novel	p.Pro465Ser	missense variant	-	NC_000013.11:g.110457396C>T	NCI-TCGA
NCI-TCGA novel	p.Pro465Leu	missense variant	-	NC_000013.11:g.110457397C>T	NCI-TCGA
rs374820618	p.Gly466Ser	missense variant	-	NC_000013.11:g.110457399G>A	ESP,ExAC,TOPMed,gnomAD
rs1436409014	p.Ser467Thr	missense variant	-	NC_000013.11:g.110457402T>A	gnomAD
rs1297540573	p.Ser467Tyr	missense variant	-	NC_000013.11:g.110457403C>A	gnomAD
rs752241504	p.Pro468Arg	missense variant	-	NC_000013.11:g.110457406C>G	ExAC,TOPMed,gnomAD
rs755752113	p.Gly469Ala	missense variant	-	NC_000013.11:g.110457409G>C	ExAC,gnomAD
rs755752113	p.Gly469Glu	missense variant	-	NC_000013.11:g.110457409G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly469Arg	missense variant	-	NC_000013.11:g.110457408G>A	NCI-TCGA
rs1284916032	p.Ala470Val	missense variant	-	NC_000013.11:g.110457412C>T	gnomAD
rs372173405	p.Arg471His	missense variant	-	NC_000013.11:g.110457415G>A	ESP,ExAC,TOPMed,gnomAD
rs367551920	p.Arg471Cys	missense variant	-	NC_000013.11:g.110457414C>T	ESP,ExAC,TOPMed,gnomAD
rs372173405	p.Arg471Pro	missense variant	-	NC_000013.11:g.110457415G>C	ESP,ExAC,TOPMed,gnomAD
rs1465203402	p.Gly472Arg	missense variant	-	NC_000013.11:g.110457417G>A	gnomAD
RCV000522001	p.Gly472Arg	missense variant	-	NC_000013.11:g.110457417G>A	ClinVar
rs1432536821	p.Pro473Ser	missense variant	-	NC_000013.11:g.110457420C>T	TOPMed
rs1207936307	p.Pro473Gln	missense variant	-	NC_000013.11:g.110457421C>A	gnomAD
rs756953202	p.Lys474Asn	missense variant	-	NC_000013.11:g.110457425G>C	ExAC,TOPMed,gnomAD
COSM4045960	p.Lys474Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110457425G>T	NCI-TCGA Cosmic
rs1242854945	p.Trp476Ter	stop gained	-	NC_000013.11:g.110457430G>A	gnomAD
rs1461225740	p.Asp479His	missense variant	-	NC_000013.11:g.110458773G>C	gnomAD
rs561067393	p.Ala480Ser	missense variant	-	NC_000013.11:g.110458776G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs561067393	p.Ala480Thr	missense variant	-	NC_000013.11:g.110458776G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1000663745	p.Gly481Glu	missense variant	-	NC_000013.11:g.110458780G>A	gnomAD
rs780429644	p.Glu482Ter	stop gained	-	NC_000013.11:g.110458782G>T	ExAC,gnomAD
rs1450355830	p.Glu482Ala	missense variant	-	NC_000013.11:g.110458783A>C	gnomAD
rs1284969360	p.Cys483Tyr	missense variant	-	NC_000013.11:g.110458786G>A	gnomAD
rs886049972	p.Arg484Thr	missense variant	-	NC_000013.11:g.110458789G>C	-
RCV000286317	p.Arg484Thr	missense variant	Porencephalic cyst	NC_000013.11:g.110458789G>C	ClinVar
rs369804330	p.Cys485Arg	missense variant	-	NC_000013.11:g.110458791T>C	ESP,ExAC,TOPMed,gnomAD
rs865961716	p.Gly488Asp	missense variant	-	NC_000013.11:g.110458801G>A	TOPMed
rs777186602	p.Asp489Asn	missense variant	-	NC_000013.11:g.110458803G>A	ExAC,TOPMed,gnomAD
rs372114837	p.Glu490Lys	missense variant	-	NC_000013.11:g.110458806G>A	ESP,ExAC,TOPMed,gnomAD
rs1187692110	p.Ile492Val	missense variant	-	NC_000013.11:g.110458812A>G	gnomAD
rs1432166098	p.Lys493Arg	missense variant	-	NC_000013.11:g.110458816A>G	TOPMed
rs374754168	p.Pro496Ser	missense variant	-	NC_000013.11:g.110458824C>T	ESP,TOPMed,gnomAD
rs570979461	p.Pro496Leu	missense variant	-	NC_000013.11:g.110458825C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1163917280	p.Gly497Arg	missense variant	-	NC_000013.11:g.110458827G>A	TOPMed
rs1458192767	p.Leu498Pro	missense variant	-	NC_000013.11:g.110458831T>C	TOPMed,gnomAD
rs1414660137	p.Leu498Val	missense variant	-	NC_000013.11:g.110458830C>G	gnomAD
NCI-TCGA novel	p.Pro499Thr	missense variant	-	NC_000013.11:g.110458833C>A	NCI-TCGA
COSM5687415	p.Pro501His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110458840C>A	NCI-TCGA Cosmic
rs760442875	p.Phe504Tyr	missense variant	-	NC_000013.11:g.110458849T>A	ExAC,gnomAD
rs753867828	p.Ala505Thr	missense variant	-	NC_000013.11:g.110458851G>A	ExAC,TOPMed,gnomAD
rs757391857	p.Ala505Val	missense variant	-	NC_000013.11:g.110458852C>T	ExAC,gnomAD
COSM696000	p.Gly506Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110458855G>T	NCI-TCGA Cosmic
rs1258863712	p.Asn508Ser	missense variant	-	NC_000013.11:g.110458861A>G	gnomAD
rs1200521598	p.Gly509Glu	missense variant	-	NC_000013.11:g.110458864G>A	gnomAD
rs1490227936	p.Gly509Arg	missense variant	-	NC_000013.11:g.110458863G>A	TOPMed
rs1484447344	p.Pro511Thr	missense variant	-	NC_000013.11:g.110458869C>A	gnomAD
rs373398289	p.Pro511Leu	missense variant	-	NC_000013.11:g.110458870C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro511Arg	missense variant	-	NC_000013.11:g.110458870C>G	NCI-TCGA
rs1225090677	p.Arg513Ser	missense variant	-	NC_000013.11:g.110458877G>T	TOPMed
COSM695999	p.Gly515Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110458881G>A	NCI-TCGA Cosmic
rs1306100690	p.Asp516Asn	missense variant	-	NC_000013.11:g.110458884G>A	TOPMed
rs7990383	p.Arg517Lys	missense variant	-	NC_000013.11:g.110458888G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs7990383	p.Arg517Lys	missense variant	-	NC_000013.11:g.110458888G>A	UniProt,dbSNP
VAR_048796	p.Arg517Lys	missense variant	-	NC_000013.11:g.110458888G>A	UniProt
RCV000836661	p.Arg517Lys	missense variant	-	NC_000013.11:g.110458888G>A	ClinVar
RCV000394894	p.Arg517Lys	missense variant	Porencephalic cyst	NC_000013.11:g.110458888G>A	ClinVar
rs755334935	p.Asp519Tyr	missense variant	-	NC_000013.11:g.110458893G>T	ExAC,gnomAD
rs1210561453	p.Pro520Arg	missense variant	-	NC_000013.11:g.110458897C>G	gnomAD
rs1279469217	p.Pro520Ser	missense variant	-	NC_000013.11:g.110458896C>T	TOPMed
rs1433036701	p.Gly521Ser	missense variant	-	NC_000013.11:g.110458899G>A	gnomAD
rs773783775	p.Gly524Ser	missense variant	-	NC_000013.11:g.110458908G>A	ExAC,TOPMed,gnomAD
rs1459157263	p.Gly524Val	missense variant	-	NC_000013.11:g.110458909G>T	TOPMed
rs745382040	p.Pro526Arg	missense variant	-	NC_000013.11:g.110458915C>G	ExAC,TOPMed,gnomAD
rs745382040	p.Pro526Leu	missense variant	-	NC_000013.11:g.110458915C>T	ExAC,TOPMed,gnomAD
rs1419525171	p.Phe528Leu	missense variant	-	NC_000013.11:g.110458922C>A	gnomAD
rs1233888364	p.Gly530Arg	missense variant	-	NC_000013.11:g.110458926G>A	gnomAD
rs760488852	p.Leu531Phe	missense variant	-	NC_000013.11:g.110458929C>T	ExAC,gnomAD
rs768623075	p.Lys532Arg	missense variant	-	NC_000013.11:g.110458933A>G	ExAC,gnomAD
NCI-TCGA novel	p.Val534Leu	missense variant	-	NC_000013.11:g.110462117G>T	NCI-TCGA
rs771523415	p.Pro535Ala	missense variant	-	NC_000013.11:g.110462120C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro535Leu	missense variant	-	NC_000013.11:g.110462121C>T	NCI-TCGA
rs779735591	p.Asn537Ser	missense variant	-	NC_000013.11:g.110462127A>G	ExAC
rs773949303	p.Ile538Thr	missense variant	-	NC_000013.11:g.110462130T>C	ExAC,TOPMed,gnomAD
rs1251476397	p.Ile538Val	missense variant	-	NC_000013.11:g.110462129A>G	TOPMed
rs768454203	p.Ala540Asp	missense variant	-	NC_000013.11:g.110462136C>A	ExAC,gnomAD
rs768454203	p.Ala540Val	missense variant	-	NC_000013.11:g.110462136C>T	ExAC,gnomAD
rs377759912	p.Pro541Ser	missense variant	-	NC_000013.11:g.110462138C>T	ESP,ExAC,TOPMed,gnomAD
rs747768096	p.Pro541Leu	missense variant	-	NC_000013.11:g.110462139C>T	TOPMed
rs534644575	p.Gly542Ter	stop gained	-	NC_000013.11:g.110462141G>T	1000Genomes,ExAC,gnomAD
COSM1365449	p.Gly542Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110462141G>A	NCI-TCGA Cosmic
rs1027800650	p.Ala546Thr	missense variant	-	NC_000013.11:g.110462153G>A	gnomAD
rs1027800650	p.Ala546Ser	missense variant	-	NC_000013.11:g.110462153G>T	gnomAD
NCI-TCGA novel	p.Gly548GluPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.110462155A>-	NCI-TCGA
rs1392128437	p.Asp549Asn	missense variant	-	NC_000013.11:g.110462162G>A	gnomAD
rs766317300	p.Arg551Ter	stop gained	-	NC_000013.11:g.110462168A>T	ExAC
rs112262533	p.Thr552Lys	missense variant	-	NC_000013.11:g.110462172C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1437194301	p.Thr552Ala	missense variant	-	NC_000013.11:g.110462171A>G	TOPMed,gnomAD
RCV000301385	p.Thr552Lys	missense variant	Porencephalic cyst	NC_000013.11:g.110462172C>A	ClinVar
rs112262533	p.Thr552Ile	missense variant	-	NC_000013.11:g.110462172C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376005921	p.Thr554Ile	missense variant	-	NC_000013.11:g.110462178C>T	ESP,ExAC,TOPMed
rs1353979950	p.Gly557Ala	missense variant	-	NC_000013.11:g.110462278G>C	TOPMed,gnomAD
rs1285539239	p.Glu558Lys	missense variant	-	NC_000013.11:g.110462280G>A	gnomAD
rs199574157	p.Arg559Gln	missense variant	-	NC_000013.11:g.110462284G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs867029393	p.Arg559Trp	missense variant	-	NC_000013.11:g.110462283C>T	TOPMed
COSM6138546	p.Arg559Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110462284G>T	NCI-TCGA Cosmic
rs374304814	p.Val564Ile	missense variant	-	NC_000013.11:g.110462298G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val564Ala	missense variant	-	NC_000013.11:g.110462299T>C	NCI-TCGA
rs1316076984	p.Pro565Arg	missense variant	-	NC_000013.11:g.110462302C>G	TOPMed
rs1187520506	p.Pro565Thr	missense variant	-	NC_000013.11:g.110462301C>A	gnomAD
rs754261920	p.Pro568Ala	missense variant	-	NC_000013.11:g.110462310C>G	ExAC,gnomAD
rs765791292	p.Gly569Arg	missense variant	-	NC_000013.11:g.110462313G>A	ExAC,gnomAD
rs886049973	p.Gly569Glu	missense variant	-	NC_000013.11:g.110462314G>A	-
RCV000356149	p.Gly569Glu	missense variant	Porencephalic cyst	NC_000013.11:g.110462314G>A	ClinVar
COSM3671236	p.Gly569Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110462313G>T	NCI-TCGA Cosmic
rs897838617	p.Met570Val	missense variant	-	NC_000013.11:g.110462316A>G	TOPMed
rs1385685616	p.Asp573Gly	missense variant	-	NC_000013.11:g.110462326A>G	TOPMed
rs751105211	p.Asp574Asn	missense variant	-	NC_000013.11:g.110462328G>A	ExAC,TOPMed,gnomAD
rs1085307799	p.Ser576Asn	missense variant	-	NC_000013.11:g.110462335G>A	gnomAD
RCV000489475	p.Ser576Asn	missense variant	-	NC_000013.11:g.110462335G>A	ClinVar
rs747751731	p.Pro577Gln	missense variant	-	NC_000013.11:g.110462338C>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro577Ser	missense variant	-	NC_000013.11:g.110462337C>T	NCI-TCGA
rs777360782	p.Arg579Leu	missense variant	-	NC_000013.11:g.110462344G>T	ExAC,TOPMed,gnomAD
rs755820436	p.Arg579Cys	missense variant	-	NC_000013.11:g.110462343C>T	ExAC,TOPMed,gnomAD
rs777360782	p.Arg579His	missense variant	-	NC_000013.11:g.110462344G>A	ExAC,TOPMed,gnomAD
rs745914600	p.Asp580Glu	missense variant	-	NC_000013.11:g.110462348T>A	ExAC,TOPMed,gnomAD
RCV000390182	p.Asp580Asn	missense variant	Porencephalic cyst	NC_000013.11:g.110462346G>A	ClinVar
rs766981913	p.Asp580Asn	missense variant	-	NC_000013.11:g.110462346G>A	ExAC,TOPMed,gnomAD
rs368207474	p.Asp583Gly	missense variant	-	NC_000013.11:g.110462356A>G	ESP,ExAC,TOPMed,gnomAD
rs760848044	p.Asp583Asn	missense variant	-	NC_000013.11:g.110462355G>A	ExAC,TOPMed,gnomAD
rs776804161	p.Gly584Glu	missense variant	-	NC_000013.11:g.110462359G>A	ExAC,gnomAD
rs762299284	p.Phe585Cys	missense variant	-	NC_000013.11:g.110462362T>G	ExAC,gnomAD
rs561349636	p.Gly587Ser	missense variant	-	NC_000013.11:g.110462367G>A	1000Genomes,ExAC,gnomAD
rs1453236518	p.Leu588Phe	missense variant	-	NC_000013.11:g.110462370C>T	TOPMed,gnomAD
rs1171277171	p.Gly590Val	missense variant	-	NC_000013.11:g.110462377G>T	gnomAD
COSM695998	p.Gly590Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110462376G>T	NCI-TCGA Cosmic
rs886049974	p.Pro591Leu	missense variant	-	NC_000013.11:g.110462380C>T	gnomAD
rs886049974	p.Pro591Arg	missense variant	-	NC_000013.11:g.110462380C>G	gnomAD
rs1391570603	p.Pro591Ser	missense variant	-	NC_000013.11:g.110462379C>T	gnomAD
RCV000297788	p.Pro591Arg	missense variant	Porencephalic cyst	NC_000013.11:g.110462380C>G	ClinVar
NCI-TCGA novel	p.Pro591Thr	missense variant	-	NC_000013.11:g.110462379C>A	NCI-TCGA
rs752237630	p.Gly593Val	missense variant	-	NC_000013.11:g.110465406G>T	ExAC,gnomAD
COSM695997	p.Gly593Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110465406G>A	NCI-TCGA Cosmic
rs1323931900	p.Asp594Val	missense variant	-	NC_000013.11:g.110465409A>T	gnomAD
rs1349161442	p.Gly595Ala	missense variant	-	NC_000013.11:g.110465412G>C	TOPMed
rs1328304940	p.Gly595Ser	missense variant	-	NC_000013.11:g.110465411G>A	TOPMed,gnomAD
rs201676472	p.Lys597Arg	missense variant	-	NC_000013.11:g.110465418A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000276715	p.Lys597Arg	missense variant	Porencephalic cyst	NC_000013.11:g.110465418A>G	ClinVar
rs753574231	p.Gly598Asp	missense variant	-	NC_000013.11:g.110465421G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp602His	missense variant	-	NC_000013.11:g.110465432G>C	NCI-TCGA
rs1211764922	p.Pro603Leu	missense variant	-	NC_000013.11:g.110465436C>T	gnomAD
rs1334018285	p.Pro603Ser	missense variant	-	NC_000013.11:g.110465435C>T	gnomAD
rs778640424	p.Ile608Met	missense variant	-	NC_000013.11:g.110465452A>G	ExAC,TOPMed,gnomAD
rs936420463	p.Ile608Val	missense variant	-	NC_000013.11:g.110465450A>G	TOPMed
rs373521529	p.Thr611Met	missense variant	-	NC_000013.11:g.110465460C>T	ESP,ExAC,TOPMed,gnomAD
rs1190435633	p.Thr614Ile	missense variant	-	NC_000013.11:g.110465469C>T	gnomAD
rs768824750	p.Pro615Gln	missense variant	-	NC_000013.11:g.110465472C>A	ExAC,gnomAD
rs768824750	p.Pro615Leu	missense variant	-	NC_000013.11:g.110465472C>T	ExAC,gnomAD
rs747059028	p.Pro615Ala	missense variant	-	NC_000013.11:g.110465471C>G	ExAC,gnomAD
rs747059028	p.Pro615Ser	missense variant	-	NC_000013.11:g.110465471C>T	ExAC,gnomAD
rs1163375156	p.Met618Ile	missense variant	-	NC_000013.11:g.110465482G>T	gnomAD
NCI-TCGA novel	p.Gly619Arg	missense variant	-	NC_000013.11:g.110465483G>C	NCI-TCGA
rs748355973	p.Pro620Leu	missense variant	-	NC_000013.11:g.110465487C>T	ExAC,gnomAD
rs756435509	p.Pro621Leu	missense variant	-	NC_000013.11:g.110465490C>T	ExAC,TOPMed,gnomAD
COSM1477057	p.Gly622Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110465493G>T	NCI-TCGA Cosmic
rs886049975	p.Leu623Pro	missense variant	-	NC_000013.11:g.110465496T>C	TOPMed,gnomAD
rs886049975	p.Leu623Gln	missense variant	-	NC_000013.11:g.110465496T>A	TOPMed,gnomAD
RCV000331873	p.Leu623Gln	missense variant	Porencephalic cyst	NC_000013.11:g.110465496T>A	ClinVar
rs1281205141	p.Leu625His	missense variant	-	NC_000013.11:g.110465502T>A	gnomAD
rs771559117	p.Gly627Ser	missense variant	-	NC_000013.11:g.110465507G>A	ExAC,TOPMed,gnomAD
rs760079031	p.Leu628Arg	missense variant	-	NC_000013.11:g.110465511T>G	ExAC,gnomAD
rs763608966	p.Lys629Glu	missense variant	-	NC_000013.11:g.110465513A>G	ExAC,gnomAD
rs1475067377	p.Lys629Arg	missense variant	-	NC_000013.11:g.110465514A>G	gnomAD
COSM4045962	p.Gly630Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110465516G>T	NCI-TCGA Cosmic
rs369462083	p.Arg632Cys	missense variant	-	NC_000013.11:g.110465522C>T	ESP,ExAC,TOPMed,gnomAD
rs543519112	p.Arg632Pro	missense variant	-	NC_000013.11:g.110465523G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs543519112	p.Arg632His	missense variant	-	NC_000013.11:g.110465523G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1057523764	p.Gly633Asp	missense variant	-	NC_000013.11:g.110465526G>A	-
RCV000426149	p.Gly633Asp	missense variant	-	NC_000013.11:g.110465526G>A	ClinVar
rs764883197	p.Asp637Glu	missense variant	-	NC_000013.11:g.110465539C>G	ExAC,TOPMed,gnomAD
rs764883197	p.Asp637Glu	missense variant	-	NC_000013.11:g.110465539C>A	ExAC,TOPMed,gnomAD
rs1376223669	p.Asp637Ala	missense variant	-	NC_000013.11:g.110465538A>C	TOPMed
rs758260445	p.Ala638Pro	missense variant	-	NC_000013.11:g.110465540G>C	ExAC,gnomAD
rs758260445	p.Ala638Thr	missense variant	-	NC_000013.11:g.110465540G>A	ExAC,gnomAD
rs751567401	p.Gly639Ser	missense variant	-	NC_000013.11:g.110465543G>A	ExAC,TOPMed,gnomAD
rs754896444	p.Pro641Arg	missense variant	-	NC_000013.11:g.110465550C>G	ExAC,gnomAD
rs1412683360	p.Pro641Ala	missense variant	-	NC_000013.11:g.110465549C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Pro641His	missense variant	-	NC_000013.11:g.110465550C>A	NCI-TCGA
rs1336204648	p.Pro643Ser	missense variant	-	NC_000013.11:g.110465555C>T	gnomAD
rs781263723	p.Pro644Leu	missense variant	-	NC_000013.11:g.110465559C>T	ExAC,gnomAD
COSM3987296	p.Phe646Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110465565T>A	NCI-TCGA Cosmic
rs748187379	p.Leu647Val	missense variant	-	NC_000013.11:g.110465567C>G	ExAC,gnomAD
rs370641410	p.Pro649Ser	missense variant	-	NC_000013.11:g.110465573C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000367862	p.Pro649Ser	missense variant	Porencephalic cyst	NC_000013.11:g.110465573C>T	ClinVar
NCI-TCGA novel	p.Pro649LeuPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.110465572C>-	NCI-TCGA
RCV000677262	p.Pro650Ser	missense variant	Optic nerve hypoplasia	NC_000013.11:g.110465576C>T	ClinVar
rs200735885	p.Pro650Ser	missense variant	-	NC_000013.11:g.110465576C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199875726	p.Ala653Thr	missense variant	-	NC_000013.11:g.110465585G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199875726	p.Ala653Ser	missense variant	-	NC_000013.11:g.110465585G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1438849012	p.Thr655Ile	missense variant	-	NC_000013.11:g.110465592C>T	gnomAD
rs761371212	p.Pro656Leu	missense variant	-	NC_000013.11:g.110465595C>T	ExAC,gnomAD
rs764866798	p.Gly657Arg	missense variant	-	NC_000013.11:g.110465597G>A	ExAC,gnomAD
rs765957029	p.Lys666Gln	missense variant	-	NC_000013.11:g.110466020A>C	ExAC,gnomAD
rs1368120282	p.Arg667Ser	missense variant	-	NC_000013.11:g.110466025G>C	gnomAD
rs774178765	p.Arg667Lys	missense variant	-	NC_000013.11:g.110466024G>A	ExAC,gnomAD
rs201356199	p.Val669Ile	missense variant	-	NC_000013.11:g.110466029G>A	ESP,TOPMed,gnomAD
rs1227076681	p.Gly670Arg	missense variant	-	NC_000013.11:g.110466032G>A	gnomAD
rs143710874	p.Gly671Ser	missense variant	-	NC_000013.11:g.110466035G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756141826	p.Asp672Asn	missense variant	-	NC_000013.11:g.110466038G>A	ExAC,gnomAD
rs371914914	p.Gln674Leu	missense variant	-	NC_000013.11:g.110466045A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1487529651	p.Gln674Glu	missense variant	-	NC_000013.11:g.110466044C>G	gnomAD
rs1428160301	p.Ala676Thr	missense variant	-	NC_000013.11:g.110466050G>A	TOPMed,gnomAD
rs1428160301	p.Ala676Ser	missense variant	-	NC_000013.11:g.110466050G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala676Val	missense variant	-	NC_000013.11:g.110466051C>T	NCI-TCGA
rs1203236820	p.Pro679Leu	missense variant	-	NC_000013.11:g.110466060C>T	TOPMed
rs1420810281	p.Gly680Val	missense variant	-	NC_000013.11:g.110467040G>T	gnomAD
rs761867026	p.Ile682Val	missense variant	-	NC_000013.11:g.110467045A>G	ExAC,TOPMed,gnomAD
rs1417378542	p.Ile682Met	missense variant	-	NC_000013.11:g.110467047A>G	gnomAD
rs1344111908	p.Ile682Thr	missense variant	-	NC_000013.11:g.110467046T>C	gnomAD
rs3803230	p.Gly683Ala	missense variant	-	NC_000013.11:g.110467049G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000379310	p.Gly683Ala	missense variant	Porencephalic cyst	NC_000013.11:g.110467049G>C	ClinVar
RCV000836723	p.Gly683Ala	missense variant	-	NC_000013.11:g.110467049G>C	ClinVar
rs201214647	p.Gly684Ala	missense variant	-	NC_000013.11:g.110467052G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs780360632	p.Lys686Arg	missense variant	-	NC_000013.11:g.110467058A>G	ExAC,TOPMed,gnomAD
COSM6073991	p.Gly687Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110467060G>C	NCI-TCGA Cosmic
rs1307736256	p.Gly690Ser	missense variant	-	NC_000013.11:g.110467069G>A	gnomAD
NCI-TCGA novel	p.Gly690Asp	missense variant	-	NC_000013.11:g.110467070G>A	NCI-TCGA
rs1238144166	p.Pro692Arg	missense variant	-	NC_000013.11:g.110467076C>G	gnomAD
rs1282719893	p.Pro694Leu	missense variant	-	NC_000013.11:g.110467082C>T	gnomAD
rs781710976	p.Pro695Leu	missense variant	-	NC_000013.11:g.110467085C>T	ExAC,gnomAD
rs781710976	p.Pro695Gln	missense variant	-	NC_000013.11:g.110467085C>A	ExAC,gnomAD
COSM4400845	p.Pro695Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110467084C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly696Cys	missense variant	-	NC_000013.11:g.110467087G>T	NCI-TCGA
rs770394643	p.Pro697Arg	missense variant	-	NC_000013.11:g.110467091C>G	ExAC,gnomAD
RCV000627496	p.Pro697Ter	frameshift	-	NC_000013.11:g.110467091_110467092del	ClinVar
rs778506428	p.Thr698Arg	missense variant	-	NC_000013.11:g.110467094C>G	ExAC,gnomAD
rs1401207289	p.Ala700Ser	missense variant	-	NC_000013.11:g.110469219G>T	gnomAD
rs1275785761	p.Ala700Val	missense variant	-	NC_000013.11:g.110469220C>T	TOPMed,gnomAD
rs78829338	p.Lys701Arg	missense variant	-	NC_000013.11:g.110469223A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000224185	p.Lys701Arg	missense variant	-	NC_000013.11:g.110469223A>G	ClinVar
RCV000339830	p.Lys701Arg	missense variant	Porencephalic cyst	NC_000013.11:g.110469223A>G	ClinVar
rs1330805752	p.Leu703Phe	missense variant	-	NC_000013.11:g.110469228C>T	gnomAD
rs753109070	p.Arg704Ter	stop gained	-	NC_000013.11:g.110469231C>T	ExAC,TOPMed,gnomAD
rs535778755	p.Arg704Gln	missense variant	-	NC_000013.11:g.110469232G>A	1000Genomes,ExAC,gnomAD
rs1306463381	p.Gly705Val	missense variant	-	NC_000013.11:g.110469235G>T	gnomAD
NCI-TCGA novel	p.Ile706SerPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.110469231_110469232insGAGGAAGCCTT	NCI-TCGA
rs377272255	p.Pro707Leu	missense variant	-	NC_000013.11:g.110469241C>T	ESP,ExAC,gnomAD
rs1349550999	p.Pro707Ser	missense variant	-	NC_000013.11:g.110469240C>T	gnomAD
rs375421811	p.Ala710Thr	missense variant	-	NC_000013.11:g.110469249G>A	ESP,ExAC,TOPMed,gnomAD
rs375421811	p.Ala710Ser	missense variant	-	NC_000013.11:g.110469249G>T	ESP,ExAC,TOPMed,gnomAD
rs1199170231	p.Gly711Ala	missense variant	-	NC_000013.11:g.110469253G>C	TOPMed,gnomAD
rs1199170231	p.Gly711Glu	missense variant	-	NC_000013.11:g.110469253G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala712Ser	missense variant	-	NC_000013.11:g.110469255G>T	NCI-TCGA
rs1275649825	p.Asp713Asn	missense variant	-	NC_000013.11:g.110469258G>A	TOPMed,gnomAD
rs1458608259	p.Asp713Val	missense variant	-	NC_000013.11:g.110469259A>T	gnomAD
rs1178051998	p.Gly714Arg	missense variant	-	NC_000013.11:g.110469261G>A	gnomAD
rs9583500	p.Pro718Ser	missense variant	-	NC_000013.11:g.110469273C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000836662	p.Pro718Ser	missense variant	-	NC_000013.11:g.110469273C>T	ClinVar
RCV000375113	p.Pro718Ser	missense variant	Porencephalic cyst	NC_000013.11:g.110469273C>T	ClinVar
rs371548028	p.Arg719Thr	missense variant	-	NC_000013.11:g.110469277G>C	ESP
rs754712677	p.Arg719Gly	missense variant	-	NC_000013.11:g.110469276A>G	ExAC,TOPMed,gnomAD
rs780786567	p.Leu721Phe	missense variant	-	NC_000013.11:g.110469284G>T	ExAC,gnomAD
rs749301484	p.Ala725Gly	missense variant	-	NC_000013.11:g.110469295C>G	ExAC,TOPMed,gnomAD
rs769608611	p.Ala725Thr	missense variant	-	NC_000013.11:g.110469294G>A	ExAC,TOPMed,gnomAD
rs769608611	p.Ala725Ser	missense variant	-	NC_000013.11:g.110469294G>T	ExAC,TOPMed,gnomAD
rs770946467	p.Gly726Arg	missense variant	-	NC_000013.11:g.110469297G>C	ExAC,TOPMed,gnomAD
rs1372515992	p.Gly726Asp	missense variant	-	NC_000013.11:g.110469298G>A	gnomAD
rs774443437	p.Arg727His	missense variant	-	NC_000013.11:g.110469301G>A	ExAC,TOPMed,gnomAD
rs774443437	p.Arg727Leu	missense variant	-	NC_000013.11:g.110469301G>T	ExAC,TOPMed,gnomAD
rs975341170	p.Arg727Cys	missense variant	-	NC_000013.11:g.110469300C>T	TOPMed,gnomAD
rs950372377	p.Glu728Lys	missense variant	-	NC_000013.11:g.110469303G>A	TOPMed
rs1329056641	p.Glu728Val	missense variant	-	NC_000013.11:g.110469304A>T	TOPMed,gnomAD
rs201058867	p.Gly729Arg	missense variant	-	NC_000013.11:g.110469306G>A	ExAC,TOPMed,gnomAD
rs1253478483	p.Gly729Glu	missense variant	-	NC_000013.11:g.110469307G>A	gnomAD
rs201058867	p.Gly729Arg	missense variant	-	NC_000013.11:g.110469306G>C	ExAC,TOPMed,gnomAD
RCV000677256	p.Gly729Arg	missense variant	Optic nerve hypoplasia	NC_000013.11:g.110469306G>A	ClinVar
rs775703612	p.Phe730Leu	missense variant	-	NC_000013.11:g.110469309T>C	ExAC,gnomAD
rs1476316700	p.Pro733Ser	missense variant	-	NC_000013.11:g.110469318C>T	TOPMed,gnomAD
rs761169216	p.Pro734Ser	missense variant	-	NC_000013.11:g.110469321C>T	ExAC,TOPMed,gnomAD
rs764477907	p.Pro734Leu	missense variant	-	NC_000013.11:g.110469322C>T	ExAC,gnomAD
rs1020490248	p.Ile737Met	missense variant	-	NC_000013.11:g.110472936A>G	TOPMed,gnomAD
rs1207098850	p.Ile737Val	missense variant	-	NC_000013.11:g.110472934A>G	gnomAD
rs1487838935	p.Pro739Ser	missense variant	-	NC_000013.11:g.110472940C>T	TOPMed,gnomAD
rs377148815	p.Arg740Gln	missense variant	-	NC_000013.11:g.110472944G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg740Ter	stop gained	-	NC_000013.11:g.110472943C>T	NCI-TCGA
rs749181285	p.Ser742Tyr	missense variant	-	NC_000013.11:g.110472950C>A	ExAC,gnomAD
rs749181285	p.Ser742Cys	missense variant	-	NC_000013.11:g.110472950C>G	ExAC,gnomAD
rs749181285	p.Ser742Phe	missense variant	-	NC_000013.11:g.110472950C>T	ExAC,gnomAD
rs778905902	p.Val746Leu	missense variant	-	NC_000013.11:g.110472961G>T	ExAC,gnomAD
rs1454928357	p.Leu748Phe	missense variant	-	NC_000013.11:g.110472967C>T	gnomAD
rs1359566925	p.Asp752Asn	missense variant	-	NC_000013.11:g.110472979G>A	gnomAD
rs1296740603	p.Ser754Phe	missense variant	-	NC_000013.11:g.110472986C>T	gnomAD
rs1356564289	p.Gly756Ser	missense variant	-	NC_000013.11:g.110472991G>A	TOPMed
rs1312698644	p.Ile758Val	missense variant	-	NC_000013.11:g.110472997A>G	TOPMed,gnomAD
rs760926154	p.Ile758Met	missense variant	-	NC_000013.11:g.110472999C>G	ExAC,TOPMed,gnomAD
rs1319972493	p.Ile758Ser	missense variant	-	NC_000013.11:g.110472998T>G	TOPMed,gnomAD
rs866088460	p.Gly759Cys	missense variant	-	NC_000013.11:g.110473000G>T	TOPMed,gnomAD
rs866088460	p.Gly759Ser	missense variant	-	NC_000013.11:g.110473000G>A	TOPMed,gnomAD
rs1353283469	p.Leu760Pro	missense variant	-	NC_000013.11:g.110473004T>C	gnomAD
rs369694407	p.Asp764Gly	missense variant	-	NC_000013.11:g.110473016A>G	ESP,ExAC,TOPMed,gnomAD
rs1447718756	p.Gly765Glu	missense variant	-	NC_000013.11:g.110473019G>A	gnomAD
rs749389413	p.Pro766Ser	missense variant	-	NC_000013.11:g.110473021C>T	gnomAD
rs1193775766	p.Pro766Leu	missense variant	-	NC_000013.11:g.110473022C>T	TOPMed,gnomAD
rs749389413	p.Pro766Thr	missense variant	-	NC_000013.11:g.110473021C>A	gnomAD
rs1047806468	p.Arg770Gly	missense variant	-	NC_000013.11:g.110473033A>G	TOPMed
NCI-TCGA novel	p.Gly771AlaPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.110473034G>-	NCI-TCGA
rs765856160	p.Leu772Phe	missense variant	-	NC_000013.11:g.110473039C>T	ExAC,gnomAD
rs1379233742	p.Pro773Leu	missense variant	-	NC_000013.11:g.110473043C>T	TOPMed,gnomAD
rs886049976	p.Pro773Ser	missense variant	-	NC_000013.11:g.110473042C>T	gnomAD
RCV000280551	p.Pro773Ser	missense variant	Porencephalic cyst	NC_000013.11:g.110473042C>T	ClinVar
COSM3813399	p.Glu775Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110473048G>A	NCI-TCGA Cosmic
rs1157181000	p.Val776Ala	missense variant	-	NC_000013.11:g.110473052T>C	gnomAD
rs759187657	p.Gly778Arg	missense variant	-	NC_000013.11:g.110473057G>A	ExAC,TOPMed,gnomAD
rs1302775228	p.Ala779Gly	missense variant	-	NC_000013.11:g.110473061C>G	TOPMed,gnomAD
rs1302775228	p.Ala779Val	missense variant	-	NC_000013.11:g.110473061C>T	TOPMed,gnomAD
rs1377705882	p.Gln780Lys	missense variant	-	NC_000013.11:g.110473063C>A	gnomAD
rs1393158472	p.Pro781Ser	missense variant	-	NC_000013.11:g.110473066C>T	gnomAD
rs768662646	p.Gly782Trp	missense variant	-	NC_000013.11:g.110473069G>T	ExAC,TOPMed,gnomAD
rs768662646	p.Gly782Arg	missense variant	-	NC_000013.11:g.110473069G>A	ExAC,TOPMed,gnomAD
rs568478674	p.Pro783Ser	missense variant	-	NC_000013.11:g.110473072C>T	1000Genomes
rs529661399	p.Arg784Gln	missense variant	-	NC_000013.11:g.110473076G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1312549863	p.Arg784Trp	missense variant	-	NC_000013.11:g.110473075C>T	TOPMed,gnomAD
rs753642146	p.Asp786Val	missense variant	-	NC_000013.11:g.110473082A>T	ExAC,TOPMed,gnomAD
COSM695995	p.Gly788Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110473087G>T	NCI-TCGA Cosmic
rs757171393	p.Val789Met	missense variant	-	NC_000013.11:g.110473090G>A	ExAC,TOPMed,gnomAD
rs1237057850	p.Pro790Leu	missense variant	-	NC_000013.11:g.110473094C>T	gnomAD
rs865834443	p.Pro790Ser	missense variant	-	NC_000013.11:g.110473093C>T	gnomAD
rs1340849111	p.Leu795Phe	missense variant	-	NC_000013.11:g.110473108C>T	TOPMed
rs376694121	p.Pro799Ser	missense variant	-	NC_000013.11:g.110473120C>T	ESP,ExAC,TOPMed,gnomAD
rs867981304	p.Gly800Ter	stop gained	-	NC_000013.11:g.110473123G>T	gnomAD
rs867981304	p.Gly800Arg	missense variant	-	NC_000013.11:g.110473123G>A	gnomAD
rs1467675725	p.Pro804Thr	missense variant	-	NC_000013.11:g.110473135C>A	gnomAD
rs1376206514	p.Pro805Leu	missense variant	-	NC_000013.11:g.110473139C>T	gnomAD
NCI-TCGA novel	p.Pro805LeuPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.110473134C>-	NCI-TCGA
rs1305880482	p.Phe807Cys	missense variant	-	NC_000013.11:g.110473145T>G	TOPMed,gnomAD
rs1368588252	p.Arg808Ile	missense variant	-	NC_000013.11:g.110473148G>T	gnomAD
RCV000335701	p.Ser810Asn	missense variant	Porencephalic cyst	NC_000013.11:g.110478006G>A	ClinVar
rs372516991	p.Ser810Asn	missense variant	-	NC_000013.11:g.110478006G>A	ESP
rs758300584	p.Met813Leu	missense variant	-	NC_000013.11:g.110478014A>T	ExAC,gnomAD
rs780116763	p.Gly815Ala	missense variant	-	NC_000013.11:g.110478021G>C	ExAC,TOPMed,gnomAD
RCV000397527	p.Gly815Ala	missense variant	Porencephalic cyst	NC_000013.11:g.110478021G>C	ClinVar
NCI-TCGA novel	p.Gly815Glu	missense variant	-	NC_000013.11:g.110478021G>A	NCI-TCGA
rs1477145737	p.Pro817Ser	missense variant	-	NC_000013.11:g.110478026C>T	TOPMed,gnomAD
rs1405042949	p.Gly821Ser	missense variant	-	NC_000013.11:g.110478038G>A	TOPMed
rs1414599637	p.Gln822His	missense variant	-	NC_000013.11:g.110478043G>T	gnomAD
rs781631712	p.Leu825Phe	missense variant	-	NC_000013.11:g.110478050C>T	ExAC,gnomAD
rs781631712	p.Leu825Ile	missense variant	-	NC_000013.11:g.110478050C>A	ExAC,gnomAD
rs1020176452	p.Pro826Arg	missense variant	-	NC_000013.11:g.110478054C>G	TOPMed,gnomAD
rs773739507	p.Gly830Val	missense variant	-	NC_000013.11:g.110478066G>T	ExAC,gnomAD
rs1467033339	p.Gln831Arg	missense variant	-	NC_000013.11:g.110478069A>G	gnomAD
rs1450159508	p.Pro832Leu	missense variant	-	NC_000013.11:g.110478072C>T	gnomAD
NCI-TCGA novel	p.Gly833Cys	missense variant	-	NC_000013.11:g.110478074G>T	NCI-TCGA
rs749734117	p.Leu834Pro	missense variant	-	NC_000013.11:g.110478078T>C	ExAC,gnomAD
rs1226173908	p.Tyr835Cys	missense variant	-	NC_000013.11:g.110478081A>G	gnomAD
rs771353368	p.Pro837Ser	missense variant	-	NC_000013.11:g.110478086C>T	ExAC,gnomAD
rs1262947423	p.His841Arg	missense variant	-	NC_000013.11:g.110478099A>G	gnomAD
rs566588729	p.Gly842Arg	missense variant	-	NC_000013.11:g.110478101G>A	1000Genomes,ExAC,gnomAD
rs763705148	p.Pro844Thr	missense variant	-	NC_000013.11:g.110478107C>A	ExAC,TOPMed,gnomAD
rs763705148	p.Pro844Ser	missense variant	-	NC_000013.11:g.110478107C>T	ExAC,TOPMed,gnomAD
RCV000481798	p.Pro844Ser	missense variant	-	NC_000013.11:g.110478107C>T	ClinVar
rs1238625390	p.Pro847Leu	missense variant	-	NC_000013.11:g.110478117C>T	gnomAD
rs761477697	p.Gln849Pro	missense variant	-	NC_000013.11:g.110478123A>C	ExAC,TOPMed,gnomAD
rs1161550147	p.Gln849Glu	missense variant	-	NC_000013.11:g.110478122C>G	gnomAD
RCV000519433	p.Gln849Pro	missense variant	-	NC_000013.11:g.110478123A>C	ClinVar
rs1157780529	p.Pro852Ser	missense variant	-	NC_000013.11:g.110478131C>T	gnomAD
rs918015888	p.Pro852Leu	missense variant	-	NC_000013.11:g.110478132C>T	TOPMed,gnomAD
rs1339816245	p.Gly854Val	missense variant	-	NC_000013.11:g.110478138G>T	gnomAD
rs1253094286	p.Leu855Met	missense variant	-	NC_000013.11:g.110478140C>A	TOPMed
rs750225192	p.Leu855Arg	missense variant	-	NC_000013.11:g.110478141T>G	ExAC,gnomAD
rs758300900	p.Pro856Arg	missense variant	-	NC_000013.11:g.110478144C>G	ExAC,gnomAD
rs1555331796	p.Gly857Arg	missense variant	-	NC_000013.11:g.110478146G>A	-
RCV000658354	p.Gly857Arg	missense variant	-	NC_000013.11:g.110478146G>A	ClinVar
rs766288416	p.Ile858Val	missense variant	-	NC_000013.11:g.110478149A>G	ExAC,gnomAD
rs1238946710	p.Pro859Ser	missense variant	-	NC_000013.11:g.110478152C>T	gnomAD
rs751658527	p.Arg861Cys	missense variant	-	NC_000013.11:g.110478158C>T	ExAC,TOPMed,gnomAD
rs370815108	p.Arg861His	missense variant	-	NC_000013.11:g.110478159G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg861Leu	missense variant	-	NC_000013.11:g.110478159G>T	NCI-TCGA
rs781440001	p.Glu862Val	missense variant	-	NC_000013.11:g.110478162A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro865His	missense variant	-	NC_000013.11:g.110480226C>A	NCI-TCGA
NCI-TCGA novel	p.Asp867Gly	missense variant	-	NC_000013.11:g.110480232A>G	NCI-TCGA
rs1420866067	p.Arg868Lys	missense variant	-	NC_000013.11:g.110480235G>A	TOPMed
rs754198686	p.Asp870Glu	missense variant	-	NC_000013.11:g.110480242C>A	ExAC,gnomAD
rs1328695139	p.Pro871Ala	missense variant	-	NC_000013.11:g.110480243C>G	gnomAD
rs757611517	p.Pro871Leu	missense variant	-	NC_000013.11:g.110480244C>T	ExAC,TOPMed,gnomAD
rs757611517	p.Pro871Arg	missense variant	-	NC_000013.11:g.110480244C>G	ExAC,TOPMed,gnomAD
rs1387017990	p.Asp873Asn	missense variant	-	NC_000013.11:g.110480249G>A	gnomAD
rs1243627134	p.Thr874Ile	missense variant	-	NC_000013.11:g.110480253C>T	TOPMed
rs779357792	p.Ala876Thr	missense variant	-	NC_000013.11:g.110480258G>A	ExAC,gnomAD
rs1222123658	p.Gly878Arg	missense variant	-	NC_000013.11:g.110480264G>C	gnomAD
rs746292800	p.Met882Val	missense variant	-	NC_000013.11:g.110480276A>G	ExAC,gnomAD
rs1319212176	p.Met882Ile	missense variant	-	NC_000013.11:g.110480278G>A	gnomAD
rs772597024	p.Gly884Ser	missense variant	-	NC_000013.11:g.110480282G>A	ExAC,gnomAD
COSM3399232	p.Gly884Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110480283G>T	NCI-TCGA Cosmic
rs780630242	p.Leu885Val	missense variant	-	NC_000013.11:g.110480285C>G	ExAC,TOPMed,gnomAD
rs780630242	p.Leu885Ile	missense variant	-	NC_000013.11:g.110480285C>A	ExAC,TOPMed,gnomAD
rs1210627893	p.Ser886Pro	missense variant	-	NC_000013.11:g.110480288T>C	gnomAD
rs1037576655	p.Ser886Phe	missense variant	-	NC_000013.11:g.110480289C>T	TOPMed,gnomAD
COSM3467227	p.Gly890Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110480301G>A	NCI-TCGA Cosmic
rs747703785	p.Gly890Arg	missense variant	-	NC_000013.11:g.110480300G>A	ExAC,gnomAD
rs769402563	p.Asp891Gly	missense variant	-	NC_000013.11:g.110480304A>G	ExAC,TOPMed,gnomAD
rs762791730	p.Thr895Lys	missense variant	-	NC_000013.11:g.110480316C>A	ExAC,gnomAD
rs770568883	p.Glu897Gln	missense variant	-	NC_000013.11:g.110480321G>C	ExAC,gnomAD
rs774237426	p.Gln898Ter	stop gained	-	NC_000013.11:g.110480324C>T	ExAC,gnomAD
rs367545580	p.His900Tyr	missense variant	-	NC_000013.11:g.110480330C>T	ESP,TOPMed,gnomAD
rs759501342	p.Pro901Leu	missense variant	-	NC_000013.11:g.110480334C>T	ExAC,gnomAD
rs1388143812	p.Gly902Ala	missense variant	-	NC_000013.11:g.110480337G>C	gnomAD
COSM6073990	p.Gly902Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.110480336G>T	NCI-TCGA Cosmic
COSM6073989	p.Pro904His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110480343C>A	NCI-TCGA Cosmic
rs1235056541	p.Phe906Leu	missense variant	-	NC_000013.11:g.110480350T>A	gnomAD
rs1337120386	p.Phe906Tyr	missense variant	-	NC_000013.11:g.110480349T>A	gnomAD
rs767615338	p.Lys907Thr	missense variant	-	NC_000013.11:g.110480352A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly908Ter	stop gained	-	NC_000013.11:g.110480354G>T	NCI-TCGA
rs752795557	p.Ile909Met	missense variant	-	NC_000013.11:g.110480359T>G	ExAC,gnomAD
COSM432115	p.Asp910His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110480360G>C	NCI-TCGA Cosmic
rs1464531805	p.Gly914Ala	missense variant	-	NC_000013.11:g.110480373G>C	TOPMed
rs760906110	p.Thr915Ile	missense variant	-	NC_000013.11:g.110480376C>T	ExAC,TOPMed,gnomAD
rs760906110	p.Thr915Asn	missense variant	-	NC_000013.11:g.110480376C>A	ExAC,TOPMed,gnomAD
rs1477932169	p.Pro916Ser	missense variant	-	NC_000013.11:g.110480378C>T	TOPMed
rs1323569336	p.Gly917Ala	missense variant	-	NC_000013.11:g.110480382G>C	gnomAD
COSM295643	p.Gly917Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110480381G>A	NCI-TCGA Cosmic
rs1189130473	p.Lys919Arg	missense variant	-	NC_000013.11:g.110480388A>G	TOPMed
rs369814664	p.Asp921Val	missense variant	-	NC_000013.11:g.110482519A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369814664	p.Asp921Gly	missense variant	-	NC_000013.11:g.110482519A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1240694748	p.Ser924Leu	missense variant	-	NC_000013.11:g.110482528C>T	gnomAD
rs761891227	p.Ser924Pro	missense variant	-	NC_000013.11:g.110482527T>C	ExAC,gnomAD
rs1178852607	p.Pro925Arg	missense variant	-	NC_000013.11:g.110482531C>G	TOPMed,gnomAD
rs181283055	p.Pro925Ser	missense variant	-	NC_000013.11:g.110482530C>T	1000Genomes,TOPMed,gnomAD
rs765543373	p.Met927Ile	missense variant	-	NC_000013.11:g.110482538G>A	ExAC,TOPMed,gnomAD
rs145040676	p.Met927Val	missense variant	-	NC_000013.11:g.110482536A>G	1000Genomes,gnomAD
NCI-TCGA novel	p.Gly932Cys	missense variant	-	NC_000013.11:g.110482551G>T	NCI-TCGA
rs1336692495	p.Met933Ile	missense variant	-	NC_000013.11:g.110482556G>A	gnomAD
rs758826364	p.Met933Thr	missense variant	-	NC_000013.11:g.110482555T>C	ExAC,TOPMed,gnomAD
COSM6073988	p.Pro934Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110482557C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly935Ala	missense variant	-	NC_000013.11:g.110482561G>C	NCI-TCGA
rs1188144380	p.Leu936Phe	missense variant	-	NC_000013.11:g.110482563C>T	TOPMed
rs1449160236	p.Lys937Asn	missense variant	-	NC_000013.11:g.110482568A>C	gnomAD
rs939245942	p.Pro940Leu	missense variant	-	NC_000013.11:g.110482576C>T	TOPMed
rs1221813265	p.Gly941Ala	missense variant	-	NC_000013.11:g.110482579G>C	gnomAD
NCI-TCGA novel	p.Gly941Arg	missense variant	-	NC_000013.11:g.110482578G>A	NCI-TCGA
NCI-TCGA novel	p.Pro943Ser	missense variant	-	NC_000013.11:g.110482584C>T	NCI-TCGA
rs777103069	p.Ser945Asn	missense variant	-	NC_000013.11:g.110482591G>A	ExAC,gnomAD
rs755545052	p.Ser945Gly	missense variant	-	NC_000013.11:g.110482590A>G	ExAC,gnomAD
rs199678709	p.Glu948Lys	missense variant	-	NC_000013.11:g.110482599G>A	ESP,ExAC,TOPMed,gnomAD
rs1458711906	p.Glu948Asp	missense variant	-	NC_000013.11:g.110482601G>C	TOPMed,gnomAD
rs756831431	p.Ala949Pro	missense variant	-	NC_000013.11:g.110482602G>C	ExAC,gnomAD
rs778696475	p.Ala949Val	missense variant	-	NC_000013.11:g.110482603C>T	ExAC,gnomAD
RCV000658683	p.Ala949Val	missense variant	-	NC_000013.11:g.110482603C>T	ClinVar
rs745646300	p.Phe951Val	missense variant	-	NC_000013.11:g.110482608T>G	ExAC,gnomAD
rs1175807377	p.Phe952Val	missense variant	-	NC_000013.11:g.110482611T>G	gnomAD
NCI-TCGA novel	p.Phe952Ser	inframe deletion	-	NC_000013.11:g.110482612_110482620TCGGAATAC>-	NCI-TCGA
NCI-TCGA novel	p.Gly953Arg	missense variant	-	NC_000013.11:g.110482614G>A	NCI-TCGA
rs775430349	p.Pro955Leu	missense variant	-	NC_000013.11:g.110482621C>T	ExAC,gnomAD
rs1427893299	p.Gly956Ser	missense variant	-	NC_000013.11:g.110482623G>A	gnomAD
NCI-TCGA novel	p.Gly962Ser	missense variant	-	NC_000013.11:g.110482641G>A	NCI-TCGA
NCI-TCGA novel	p.Glu963Lys	missense variant	-	NC_000013.11:g.110482644G>A	NCI-TCGA
rs1325156655	p.Pro964Ser	missense variant	-	NC_000013.11:g.110482647C>T	TOPMed
rs768659199	p.Pro964Leu	missense variant	-	NC_000013.11:g.110482648C>T	ExAC,gnomAD
RCV000521727	p.Gly965Asp	missense variant	-	NC_000013.11:g.110482651G>A	ClinVar
rs776550709	p.Gly965Asp	missense variant	-	NC_000013.11:g.110482651G>A	ExAC,gnomAD
rs750031316	p.Ser969Arg	missense variant	-	NC_000013.11:g.110484909C>A	ExAC,TOPMed,gnomAD
rs1229599196	p.Arg970Gln	missense variant	-	NC_000013.11:g.110484911G>A	gnomAD
rs758156725	p.Arg970Ter	stop gained	-	NC_000013.11:g.110484910C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly971Ala	missense variant	-	NC_000013.11:g.110484914G>C	NCI-TCGA
NCI-TCGA novel	p.Asp972ThrPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.110484913G>-	NCI-TCGA
NCI-TCGA novel	p.Pro976GlnPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.110484925C>-	NCI-TCGA
rs1290009913	p.Pro978Gln	missense variant	-	NC_000013.11:g.110484935C>A	gnomAD
rs781255496	p.Pro978Ala	missense variant	-	NC_000013.11:g.110484934C>G	ExAC,gnomAD
COSM4771230	p.Pro979Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110484937C>T	NCI-TCGA Cosmic
rs1195022297	p.Leu983Pro	missense variant	-	NC_000013.11:g.110484950T>C	gnomAD
rs1188001799	p.Pro984Thr	missense variant	-	NC_000013.11:g.110484952C>A	gnomAD
rs769851485	p.Gly985Val	missense variant	-	NC_000013.11:g.110484956G>T	ExAC,TOPMed,gnomAD
rs769851485	p.Gly985Ala	missense variant	-	NC_000013.11:g.110484956G>C	ExAC,TOPMed,gnomAD
rs915738007	p.Lys987Asn	missense variant	-	NC_000013.11:g.110484963A>C	TOPMed
rs771195548	p.Asp988Asn	missense variant	-	NC_000013.11:g.110484964G>A	ExAC,gnomAD
rs1161945549	p.Ile989Thr	missense variant	-	NC_000013.11:g.110484968T>C	gnomAD
rs1424296656	p.Ile989Val	missense variant	-	NC_000013.11:g.110484967A>G	TOPMed,gnomAD
rs1424296656	p.Ile989Leu	missense variant	-	NC_000013.11:g.110484967A>C	TOPMed,gnomAD
COSM3872847	p.Gly994Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110484982G>A	NCI-TCGA Cosmic
rs1380793212	p.Glu996Ala	missense variant	-	NC_000013.11:g.110484989A>C	TOPMed
COSM3467228	p.Gly997Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110484991G>A	NCI-TCGA Cosmic
rs1420136912	p.Pro998Ser	missense variant	-	NC_000013.11:g.110484994C>T	gnomAD
rs1317550156	p.Met999Val	missense variant	-	NC_000013.11:g.110484997A>G	gnomAD
rs760014620	p.Leu1001Met	missense variant	-	NC_000013.11:g.110485003C>A	ExAC,gnomAD
rs767899188	p.Leu1005Val	missense variant	-	NC_000013.11:g.110485015C>G	ExAC,TOPMed,gnomAD
rs148455649	p.Ala1007Ser	missense variant	-	NC_000013.11:g.110485021G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148455649	p.Ala1007Thr	missense variant	-	NC_000013.11:g.110485021G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1365454	p.Lys1008Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110485026A>C	NCI-TCGA Cosmic
rs780886978	p.Ile1010Val	missense variant	-	NC_000013.11:g.110485657A>G	TOPMed
rs1390429064	p.Met1013Val	missense variant	-	NC_000013.11:g.110485666A>G	gnomAD
rs567061637	p.Ile1016Phe	missense variant	-	NC_000013.11:g.110485675A>T	1000Genomes,ExAC,gnomAD
rs1389183567	p.Pro1017Arg	missense variant	-	NC_000013.11:g.110485679C>G	TOPMed
COSM6073987	p.Gly1018Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110485682G>T	NCI-TCGA Cosmic
rs1284408840	p.Ser1020Leu	missense variant	-	NC_000013.11:g.110485688C>T	gnomAD
COSM3467229	p.Gly1021Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110485691G>A	NCI-TCGA Cosmic
rs1323467427	p.Ile1022Val	missense variant	-	NC_000013.11:g.110485693A>G	gnomAD
rs1331691675	p.Arg1028Ser	missense variant	-	NC_000013.11:g.110485713G>T	TOPMed
COSM6138543	p.Arg1028Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110485712G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg1028GlyPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.110485708G>-	NCI-TCGA
rs746063904	p.Pro1029Thr	missense variant	-	NC_000013.11:g.110485714C>A	ExAC,gnomAD
rs747373721	p.Gly1030Ser	missense variant	-	NC_000013.11:g.110485717G>A	ExAC,TOPMed
COSM695993	p.Gly1030Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110485717G>T	NCI-TCGA Cosmic
rs769279552	p.His1031Arg	missense variant	-	NC_000013.11:g.110485721A>G	ExAC,TOPMed,gnomAD
rs777334614	p.Lys1033Glu	missense variant	-	NC_000013.11:g.110485726A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly1034Glu	missense variant	-	NC_000013.11:g.110485730G>A	NCI-TCGA
rs387906603	p.Gly1037Glu	missense variant	Brain small vessel disease 2 (BSVD2)	NC_000013.11:g.110485739G>A	UniProt,dbSNP
VAR_067837	p.Gly1037Glu	missense variant	Brain small vessel disease 2 (BSVD2)	NC_000013.11:g.110485739G>A	UniProt
rs387906603	p.Gly1037Glu	missense variant	Porencephaly 2 (poren2)	NC_000013.11:g.110485739G>A	-
RCV000022468	p.Gly1037Glu	missense variant	Porencephaly 2 (BSVD2)	NC_000013.11:g.110485739G>A	ClinVar
NCI-TCGA novel	p.Gly1037Arg	missense variant	-	NC_000013.11:g.110485738G>A	NCI-TCGA
rs1343473958	p.Pro1042Ser	missense variant	-	NC_000013.11:g.110485753C>T	gnomAD
rs1479434007	p.Pro1042Leu	missense variant	-	NC_000013.11:g.110485754C>T	TOPMed,gnomAD
COSM3467230	p.Pro1042Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110485753C>G	NCI-TCGA Cosmic
rs1407372947	p.Gly1046Ser	missense variant	-	NC_000013.11:g.110485765G>A	gnomAD
rs767119766	p.Pro1048Gln	missense variant	-	NC_000013.11:g.110485772C>A	ExAC,gnomAD
rs759176184	p.Pro1048Ser	missense variant	-	NC_000013.11:g.110485771C>T	ExAC,gnomAD
rs1403618256	p.Phe1050Tyr	missense variant	-	NC_000013.11:g.110485778T>A	gnomAD
rs1403618256	p.Phe1050Ser	missense variant	-	NC_000013.11:g.110485778T>C	gnomAD
rs1440092987	p.Val1053Met	missense variant	-	NC_000013.11:g.110485786G>A	gnomAD
rs375377948	p.Pro1056Ser	missense variant	-	NC_000013.11:g.110485795C>T	ESP,ExAC,gnomAD
rs201763437	p.Pro1057Thr	missense variant	-	NC_000013.11:g.110485798C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201763437	p.Pro1057Ala	missense variant	-	NC_000013.11:g.110485798C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201763437	p.Pro1057Ser	missense variant	-	NC_000013.11:g.110485798C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM5165286	p.Pro1057LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.110485794C>-	NCI-TCGA Cosmic
RCV000512646	p.Gly1058Ter	frameshift	-	NC_000013.11:g.110485799dup	ClinVar
rs538572755	p.Ile1059Thr	missense variant	-	NC_000013.11:g.110485805T>C	1000Genomes,ExAC,gnomAD
rs372727377	p.Thr1060Met	missense variant	-	NC_000013.11:g.110485808C>T	ESP,ExAC,TOPMed,gnomAD
rs758614751	p.Phe1065Leu	missense variant	-	NC_000013.11:g.110485822T>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe1065Leu	missense variant	-	NC_000013.11:g.110485824C>A	NCI-TCGA
rs1262423458	p.Ile1066Thr	missense variant	-	NC_000013.11:g.110485826T>C	TOPMed,gnomAD
rs780207925	p.Ile1066Val	missense variant	-	NC_000013.11:g.110485825A>G	ExAC,gnomAD
rs1262423458	p.Ile1066Lys	missense variant	-	NC_000013.11:g.110485826T>A	TOPMed,gnomAD
rs747362304	p.Ile1066Met	missense variant	-	NC_000013.11:g.110485827A>G	ExAC,gnomAD
rs200275883	p.Arg1069Gln	missense variant	-	NC_000013.11:g.110485835G>A	ExAC,TOPMed,gnomAD
rs200165414	p.Arg1069Trp	missense variant	-	NC_000013.11:g.110485834C>T	ESP,ExAC,TOPMed,gnomAD
rs755280064	p.Asp1071Gly	missense variant	-	NC_000013.11:g.110489449A>G	ExAC,TOPMed,gnomAD
rs755280064	p.Asp1071Ala	missense variant	-	NC_000013.11:g.110489449A>C	ExAC,TOPMed,gnomAD
rs370353262	p.Lys1072Arg	missense variant	-	NC_000013.11:g.110489452A>G	ESP,ExAC,gnomAD
rs999162118	p.Pro1075Leu	missense variant	-	NC_000013.11:g.110489461C>T	gnomAD
COSM4913374	p.Gly1076Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110489463G>C	NCI-TCGA Cosmic
rs200914492	p.Ala1078Val	missense variant	-	NC_000013.11:g.110489470C>T	TOPMed
rs370759950	p.Tyr1081Phe	missense variant	-	NC_000013.11:g.110489479A>T	ESP,ExAC,TOPMed,gnomAD
rs370759950	p.Tyr1081Cys	missense variant	-	NC_000013.11:g.110489479A>G	ESP,ExAC,TOPMed,gnomAD
rs1022756703	p.Glu1083Lys	missense variant	-	NC_000013.11:g.110489484G>A	TOPMed,gnomAD
rs771420771	p.Ile1084Thr	missense variant	-	NC_000013.11:g.110489488T>C	ExAC,TOPMed,gnomAD
rs368382267	p.Ala1086Thr	missense variant	-	NC_000013.11:g.110489493G>A	ESP,ExAC,TOPMed,gnomAD
rs370679299	p.Ala1086Val	missense variant	-	NC_000013.11:g.110489494C>T	ESP,ExAC,TOPMed,gnomAD
RCV000417915	p.Ala1086Val	missense variant	-	NC_000013.11:g.110489494C>T	ClinVar
rs765208038	p.Thr1087Asn	missense variant	-	NC_000013.11:g.110489497C>A	ExAC,gnomAD
rs1404126493	p.Phe1090Ile	missense variant	-	NC_000013.11:g.110489505T>A	gnomAD
rs766327197	p.Gly1091Ser	missense variant	-	NC_000013.11:g.110489508G>A	ExAC,TOPMed,gnomAD
rs767723644	p.Asp1092Asn	missense variant	-	NC_000013.11:g.110489713G>A	ExAC,gnomAD
rs752903694	p.Ile1093Val	missense variant	-	NC_000013.11:g.110489716A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile1093Thr	missense variant	-	NC_000013.11:g.110489717T>C	NCI-TCGA
NCI-TCGA novel	p.Gly1094Glu	missense variant	-	NC_000013.11:g.110489720G>A	NCI-TCGA
rs886049978	p.Thr1096Ala	missense variant	-	NC_000013.11:g.110489725A>G	TOPMed,gnomAD
RCV000267977	p.Thr1096Ala	missense variant	Porencephalic cyst	NC_000013.11:g.110489725A>G	ClinVar
rs764318575	p.Ile1097Val	missense variant	-	NC_000013.11:g.110489728A>G	ExAC,gnomAD
rs764318575	p.Ile1097Leu	missense variant	-	NC_000013.11:g.110489728A>C	ExAC,gnomAD
rs757675325	p.Asn1098Thr	missense variant	-	NC_000013.11:g.110489732A>C	ExAC,gnomAD
rs779464248	p.Leu1099Phe	missense variant	-	NC_000013.11:g.110489736A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1099Val	missense variant	-	NC_000013.11:g.110489734T>G	NCI-TCGA
rs551174732	p.Arg1102Ile	missense variant	-	NC_000013.11:g.110489744G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1419880917	p.Pro1103Ser	missense variant	-	NC_000013.11:g.110489746C>T	gnomAD
rs1423846979	p.Lys1106Asn	missense variant	-	NC_000013.11:g.110489757G>T	gnomAD
NCI-TCGA novel	p.Gly1107Trp	missense variant	-	NC_000013.11:g.110489758G>T	NCI-TCGA
RCV000323020	p.Arg1109Gln	missense variant	Porencephalic cyst	NC_000013.11:g.110489765G>A	ClinVar
rs780685222	p.Arg1109Trp	missense variant	-	NC_000013.11:g.110489764C>T	ExAC,TOPMed,gnomAD
rs184812559	p.Arg1109Gln	missense variant	-	NC_000013.11:g.110489765G>A	UniProt,dbSNP
VAR_067553	p.Arg1109Gln	missense variant	-	NC_000013.11:g.110489765G>A	UniProt
rs184812559	p.Arg1109Gln	missense variant	-	NC_000013.11:g.110489765G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199531970	p.Gly1110Ala	missense variant	-	NC_000013.11:g.110489768G>C	1000Genomes,TOPMed
rs199531970	p.Gly1110Asp	missense variant	-	NC_000013.11:g.110489768G>A	1000Genomes,TOPMed
rs886049979	p.Thr1111Ile	missense variant	-	NC_000013.11:g.110489771C>T	-
RCV000377742	p.Thr1111Ile	missense variant	Porencephalic cyst	NC_000013.11:g.110489771C>T	ClinVar
rs749145790	p.Thr1112Ala	missense variant	-	NC_000013.11:g.110489773A>G	ExAC,gnomAD
rs770982531	p.Ile1114Met	missense variant	-	NC_000013.11:g.110489781A>G	ExAC,gnomAD
rs760877863	p.Leu1117Arg	missense variant	-	NC_000013.11:g.110491236T>G	ExAC,gnomAD
rs1330542111	p.Leu1117Val	missense variant	-	NC_000013.11:g.110491235C>G	gnomAD
rs1225384332	p.Gly1122Glu	missense variant	-	NC_000013.11:g.110491251G>A	gnomAD
rs117412802	p.Glu1123Gly	missense variant	Hemorrhage, intracerebral, susceptibility to (ich)	NC_000013.11:g.110491254A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000318506	p.Glu1123Gly	missense variant	Porencephalic cyst	NC_000013.11:g.110491254A>G	ClinVar
rs982975270	p.Lys1124Met	missense variant	-	NC_000013.11:g.110491257A>T	TOPMed,gnomAD
rs982975270	p.Lys1124Thr	missense variant	-	NC_000013.11:g.110491257A>C	TOPMed,gnomAD
rs1275459741	p.Gly1128Asp	missense variant	-	NC_000013.11:g.110491269G>A	gnomAD
rs1438118274	p.Asp1129Asn	missense variant	-	NC_000013.11:g.110491271G>A	gnomAD
rs1438118274	p.Asp1129Asn	missense variant	-	NC_000013.11:g.110491271G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp1129Tyr	missense variant	-	NC_000013.11:g.110491271G>T	NCI-TCGA
rs765545175	p.Ile1130Thr	missense variant	-	NC_000013.11:g.110491275T>C	ExAC,gnomAD
rs750808602	p.Ile1130Met	missense variant	-	NC_000013.11:g.110491276C>G	ExAC,gnomAD
rs374458070	p.Gly1131Ser	missense variant	-	NC_000013.11:g.110491277G>A	NCI-TCGA,NCI-TCGA Cosmic
rs752141920	p.Gly1131Ala	missense variant	-	NC_000013.11:g.110491278G>C	ExAC,gnomAD
rs374458070	p.Gly1131Ser	missense variant	-	NC_000013.11:g.110491277G>A	ESP,ExAC,TOPMed,gnomAD
rs1085307983	p.Gly1134Arg	missense variant	-	NC_000013.11:g.110491286G>A	-
RCV000490216	p.Gly1134Arg	missense variant	-	NC_000013.11:g.110491286G>A	ClinVar
rs777154642	p.Ile1135Met	missense variant	-	NC_000013.11:g.110491291A>G	ExAC,gnomAD
rs1224497549	p.Thr1136Arg	missense variant	-	NC_000013.11:g.110491293C>G	TOPMed
rs367797470	p.Val1138Met	missense variant	-	NC_000013.11:g.110491298G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs906087740	p.Thr1139Asn	missense variant	-	NC_000013.11:g.110491302C>A	gnomAD
rs906087740	p.Thr1139Ser	missense variant	-	NC_000013.11:g.110491302C>G	gnomAD
rs376907041	p.Val1141Ile	missense variant	-	NC_000013.11:g.110491307G>A	ESP,ExAC,TOPMed,gnomAD
rs1407273074	p.Pro1144Leu	missense variant	-	NC_000013.11:g.110491317C>T	TOPMed,gnomAD
rs757226079	p.Pro1144Ser	missense variant	-	NC_000013.11:g.110491316C>T	TOPMed
rs757226079	p.Pro1144Thr	missense variant	-	NC_000013.11:g.110491316C>A	TOPMed
rs1231162065	p.Leu1147Phe	missense variant	-	NC_000013.11:g.110491325C>T	gnomAD
rs780098350	p.Lys1148Glu	missense variant	-	NC_000013.11:g.110491328A>G	ExAC,gnomAD
RCV000278505	p.Gln1150Lys	missense variant	Porencephalic cyst	NC_000013.11:g.110491334C>A	ClinVar
rs62621875	p.Gln1150Lys	missense variant	Hemorrhage, intracerebral, susceptibility to (ich)	NC_000013.11:g.110491334C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs62621875	p.Gln1150Lys	missense variant	-	NC_000013.11:g.110491334C>A	UniProt,dbSNP
VAR_067555	p.Gln1150Lys	missense variant	-	NC_000013.11:g.110491334C>A	UniProt
rs1404554201	p.Gln1150Arg	missense variant	-	NC_000013.11:g.110491335A>G	TOPMed
RCV000022467	p.Gly1152Asp	missense variant	Porencephaly 2 (BSVD2)	NC_000013.11:g.110492070G>A	ClinVar
rs387906602	p.Gly1152Asp	missense variant	Porencephaly 2 (poren2)	NC_000013.11:g.110492070G>A	-
rs387906602	p.Gly1152Asp	missense variant	Brain small vessel disease 2 (BSVD2)	NC_000013.11:g.110492070G>A	UniProt,dbSNP
VAR_067838	p.Gly1152Asp	missense variant	Brain small vessel disease 2 (BSVD2)	NC_000013.11:g.110492070G>A	UniProt
rs1164632644	p.Phe1153Leu	missense variant	-	NC_000013.11:g.110492072T>C	gnomAD
rs200189899	p.Pro1160Ser	missense variant	-	NC_000013.11:g.110492093C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs768500013	p.Gly1161Ala	missense variant	-	NC_000013.11:g.110492097G>C	ExAC
rs1385758833	p.Ser1162Ter	stop gained	-	NC_000013.11:g.110492100C>A	TOPMed,gnomAD
rs1385758833	p.Ser1162Leu	missense variant	-	NC_000013.11:g.110492100C>T	TOPMed,gnomAD
rs1057519090	p.Gly1164Arg	missense variant	-	NC_000013.11:g.110492105G>A	-
RCV000416075	p.Gly1164Arg	missense variant	-	NC_000013.11:g.110492105G>A	ClinVar
rs1385295882	p.Leu1166Pro	missense variant	-	NC_000013.11:g.110492112T>C	gnomAD
rs369072485	p.Arg1168Gln	missense variant	-	NC_000013.11:g.110492118G>A	ESP,ExAC,TOPMed,gnomAD
rs375813265	p.Arg1168Trp	missense variant	-	NC_000013.11:g.110492117C>T	ESP,ExAC,TOPMed,gnomAD
rs369072485	p.Arg1168Leu	missense variant	-	NC_000013.11:g.110492118G>T	ESP,ExAC,TOPMed,gnomAD
rs942019808	p.Leu1171Pro	missense variant	-	NC_000013.11:g.110492127T>C	TOPMed,gnomAD
rs942019808	p.Leu1171Gln	missense variant	-	NC_000013.11:g.110492127T>A	TOPMed,gnomAD
rs1261304975	p.Gly1176Glu	missense variant	-	NC_000013.11:g.110492142G>A	gnomAD
rs1206297668	p.Gly1179Ser	missense variant	-	NC_000013.11:g.110492150G>A	gnomAD
rs757773947	p.Trp1180Ter	stop gained	-	NC_000013.11:g.110492155G>A	TOPMed
rs1461513690	p.Pro1184Ser	missense variant	-	NC_000013.11:g.110492165C>T	gnomAD
rs1182652069	p.Pro1184Leu	missense variant	-	NC_000013.11:g.110492166C>T	gnomAD
rs1001764615	p.Gly1185Ala	missense variant	-	NC_000013.11:g.110492169G>C	TOPMed
rs1315639831	p.Gly1185Ser	missense variant	-	NC_000013.11:g.110492168G>A	gnomAD
rs1416760069	p.Gly1188Ser	missense variant	-	NC_000013.11:g.110492177G>A	TOPMed
rs1395555920	p.Gly1188Asp	missense variant	-	NC_000013.11:g.110493211G>A	gnomAD
rs199782906	p.Pro1190Leu	missense variant	-	NC_000013.11:g.110493217C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1222391002	p.Arg1193His	missense variant	-	NC_000013.11:g.110493226G>A	TOPMed,gnomAD
rs746284597	p.Arg1193Cys	missense variant	-	NC_000013.11:g.110493225C>T	ExAC,gnomAD
rs1298681133	p.Arg1196Cys	missense variant	-	NC_000013.11:g.110493234C>T	gnomAD
rs772620582	p.Arg1196His	missense variant	-	NC_000013.11:g.110493235G>A	ExAC,TOPMed,gnomAD
rs776084205	p.Gly1197Ser	missense variant	-	NC_000013.11:g.110493237G>A	ExAC,TOPMed,gnomAD
rs370447219	p.His1199Gln	missense variant	-	NC_000013.11:g.110493245C>A	ESP,ExAC,gnomAD
rs1271683445	p.Gly1200Ser	missense variant	-	NC_000013.11:g.110493246G>A	TOPMed,gnomAD
rs1480771800	p.Leu1201Phe	missense variant	-	NC_000013.11:g.110493251G>C	gnomAD
rs772869687	p.Pro1202Ser	missense variant	-	NC_000013.11:g.110493252C>T	ExAC,gnomAD
rs1430488284	p.Thr1204Ile	missense variant	-	NC_000013.11:g.110493259C>T	gnomAD
rs762644328	p.Thr1204Ser	missense variant	-	NC_000013.11:g.110493258A>T	ExAC,TOPMed,gnomAD
rs1430488284	p.Thr1204Ile	missense variant	-	NC_000013.11:g.110493259C>T	NCI-TCGA
rs1171465939	p.Lys1205Asn	missense variant	-	NC_000013.11:g.110493263G>C	gnomAD
rs1395260344	p.Pro1208Ala	missense variant	-	NC_000013.11:g.110493270C>G	gnomAD
rs750573579	p.Ser1213Ala	missense variant	-	NC_000013.11:g.110495344T>G	ExAC
rs780542726	p.Ile1215Thr	missense variant	-	NC_000013.11:g.110495351T>C	ExAC,gnomAD
rs1472380590	p.His1216Tyr	missense variant	-	NC_000013.11:g.110495353C>T	TOPMed,gnomAD
rs540654571	p.His1216Arg	missense variant	-	NC_000013.11:g.110495354A>G	1000Genomes,ExAC,gnomAD
rs781603184	p.Gly1217Arg	missense variant	-	NC_000013.11:g.110495356G>A	ExAC,gnomAD
rs748699218	p.Asp1218Tyr	missense variant	-	NC_000013.11:g.110495359G>T	ExAC,TOPMed,gnomAD
rs1296212323	p.Pro1219Ala	missense variant	-	NC_000013.11:g.110495362C>G	TOPMed
COSM6138542	p.Gly1223Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110495375G>A	NCI-TCGA Cosmic
rs1385855862	p.Pro1224Ser	missense variant	-	NC_000013.11:g.110495377C>T	gnomAD
COSM3467234	p.Gly1226Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110495384G>A	NCI-TCGA Cosmic
rs1470737915	p.Gly1226Arg	missense variant	-	NC_000013.11:g.110495383G>A	gnomAD
COSM3467235	p.Glu1227Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110495386G>A	NCI-TCGA Cosmic
rs1337048689	p.Arg1228Gly	missense variant	-	NC_000013.11:g.110495389A>G	TOPMed,gnomAD
rs1052998929	p.Pro1231Ser	missense variant	-	NC_000013.11:g.110495398C>T	TOPMed
rs368834996	p.Pro1231Arg	missense variant	-	NC_000013.11:g.110495399C>G	ESP,ExAC,gnomAD
COSM945367	p.Pro1231Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110495399C>A	NCI-TCGA Cosmic
rs1442002576	p.Gly1232Ala	missense variant	-	NC_000013.11:g.110495402G>C	TOPMed
rs773940707	p.Ala1234Thr	missense variant	-	NC_000013.11:g.110495407G>A	ExAC,gnomAD
rs759169596	p.Ala1234Val	missense variant	-	NC_000013.11:g.110495408C>T	ExAC,gnomAD
rs771755580	p.Thr1236Ile	missense variant	-	NC_000013.11:g.110495414C>T	ExAC,TOPMed,gnomAD
rs1267563334	p.Leu1237Phe	missense variant	-	NC_000013.11:g.110495416C>T	gnomAD
rs375198480	p.Pro1238Ala	missense variant	-	NC_000013.11:g.110495419C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1239Ser	missense variant	-	NC_000013.11:g.110495422G>A	NCI-TCGA
rs760522637	p.Pro1240Ser	missense variant	-	NC_000013.11:g.110495425C>T	ExAC,gnomAD
rs763891268	p.Val1241Leu	missense variant	-	NC_000013.11:g.110495428G>T	ExAC,TOPMed,gnomAD
rs763891268	p.Val1241Met	missense variant	-	NC_000013.11:g.110495428G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val1241Gly	missense variant	-	NC_000013.11:g.110495429T>G	NCI-TCGA
NCI-TCGA novel	p.Pro1244Arg	missense variant	-	NC_000013.11:g.110495438C>G	NCI-TCGA
rs369940160	p.Gln1246Ter	stop gained	-	NC_000013.11:g.110495443C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1246His	missense variant	-	NC_000013.11:g.110495445G>C	NCI-TCGA
rs1173195289	p.Gln1250Leu	missense variant	-	NC_000013.11:g.110495456A>T	TOPMed
rs1173195289	p.Gln1250Leu	missense variant	-	NC_000013.11:g.110495456A>T	NCI-TCGA
rs750564362	p.Ala1252Gly	missense variant	-	NC_000013.11:g.110495462C>G	ExAC,gnomAD
rs1199552495	p.Glu1255Gly	missense variant	-	NC_000013.11:g.110501671A>G	gnomAD
rs374366470	p.Arg1256Ter	stop gained	-	NC_000013.11:g.110501673C>T	ESP,ExAC,gnomAD
rs1313041506	p.Pro1259Ser	missense variant	-	NC_000013.11:g.110501682C>T	TOPMed
NCI-TCGA novel	p.Pro1259Leu	missense variant	-	NC_000013.11:g.110501683C>T	NCI-TCGA
COSM3467236	p.Gly1260Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110501686G>A	NCI-TCGA Cosmic
rs773420600	p.Gln1265Lys	missense variant	-	NC_000013.11:g.110501700C>A	ExAC,gnomAD
rs1555333415	p.Gly1266Trp	missense variant	-	NC_000013.11:g.110501703G>T	-
RCV000497776	p.Gly1266Trp	missense variant	-	NC_000013.11:g.110501703G>T	ClinVar
rs1369263668	p.Pro1272Thr	missense variant	-	NC_000013.11:g.110501721C>A	gnomAD
rs201442362	p.Pro1273Ala	missense variant	-	NC_000013.11:g.110501724C>G	1000Genomes,ExAC,gnomAD
rs928407150	p.Pro1273His	missense variant	-	NC_000013.11:g.110501725C>A	TOPMed,gnomAD
rs201442362	p.Pro1273Ser	missense variant	-	NC_000013.11:g.110501724C>T	1000Genomes,ExAC,gnomAD
rs1330647482	p.Ser1274Phe	missense variant	-	NC_000013.11:g.110501728C>T	gnomAD
rs1231317430	p.Asn1275Ser	missense variant	-	NC_000013.11:g.110501731A>G	gnomAD
rs1342539034	p.Ser1277Thr	missense variant	-	NC_000013.11:g.110501736T>A	gnomAD
rs919222319	p.Ser1277Cys	missense variant	-	NC_000013.11:g.110501737C>G	TOPMed,gnomAD
rs1490811564	p.Gly1278Glu	missense variant	-	NC_000013.11:g.110501740G>A	gnomAD
COSM6073986	p.Ala1279Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110501743C>T	NCI-TCGA Cosmic
rs767722951	p.Pro1280Ser	missense variant	-	NC_000013.11:g.110501745C>T	ExAC,TOPMed,gnomAD
rs1449443736	p.Asp1282Asn	missense variant	-	NC_000013.11:g.110501751G>A	gnomAD
rs1194798779	p.Asp1282Gly	missense variant	-	NC_000013.11:g.110501752A>G	gnomAD
rs753148213	p.Ala1285Val	missense variant	-	NC_000013.11:g.110501761C>T	ExAC,gnomAD
rs75571926	p.Pro1286Ser	missense variant	-	NC_000013.11:g.110501763C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000344932	p.Pro1286Ser	missense variant	Porencephalic cyst	NC_000013.11:g.110501763C>T	ClinVar
rs201297533	p.Ile1288Thr	missense variant	-	NC_000013.11:g.110501770T>C	gnomAD
rs779572433	p.Ile1288Leu	missense variant	-	NC_000013.11:g.110501769A>T	ExAC,gnomAD
rs1217020302	p.Gly1290Arg	missense variant	-	NC_000013.11:g.110501775G>C	TOPMed
rs1320481147	p.Lys1292Glu	missense variant	-	NC_000013.11:g.110501781A>G	gnomAD
rs199536398	p.Arg1295Gln	missense variant	-	NC_000013.11:g.110503127G>A	ESP,ExAC,TOPMed,gnomAD
rs187526694	p.Arg1295Trp	missense variant	-	NC_000013.11:g.110503126C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780952542	p.Pro1297Ser	missense variant	-	NC_000013.11:g.110503132C>T	ExAC,gnomAD
rs747765622	p.Pro1298Leu	missense variant	-	NC_000013.11:g.110503136C>T	ExAC,gnomAD
rs1372708958	p.Gly1299Arg	missense variant	-	NC_000013.11:g.110503138G>C	TOPMed
rs769564649	p.Pro1301Ser	missense variant	-	NC_000013.11:g.110503144C>T	ExAC,gnomAD
COSM432117	p.Ala1304Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110503153G>A	NCI-TCGA Cosmic
rs201627758	p.Pro1307Leu	missense variant	-	NC_000013.11:g.110503163C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000429629	p.Pro1307Arg	missense variant	-	NC_000013.11:g.110503163C>G	ClinVar
rs201627758	p.Pro1307Arg	missense variant	-	NC_000013.11:g.110503163C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1312Tyr	missense variant	-	NC_000013.11:g.110503177G>T	NCI-TCGA
rs945651445	p.Asn1315Ser	missense variant	-	NC_000013.11:g.110503187A>G	TOPMed
rs1361462862	p.Pro1316Ser	missense variant	-	NC_000013.11:g.110503189C>T	TOPMed
rs771039553	p.Ala1318Pro	missense variant	-	NC_000013.11:g.110503195G>C	ExAC,gnomAD
rs774569479	p.Ala1318Val	missense variant	-	NC_000013.11:g.110503196C>T	ExAC,gnomAD
rs771039553	p.Ala1318Ser	missense variant	-	NC_000013.11:g.110503195G>T	ExAC,gnomAD
rs1157146931	p.Pro1319Leu	missense variant	-	NC_000013.11:g.110503199C>T	gnomAD
rs377710650	p.Gly1320Glu	missense variant	-	NC_000013.11:g.110503202G>A	ESP,TOPMed,gnomAD
rs377710650	p.Gly1320Ala	missense variant	-	NC_000013.11:g.110503202G>C	ESP,TOPMed,gnomAD
rs570790825	p.Thr1321Ile	missense variant	-	NC_000013.11:g.110503205C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs772058725	p.Pro1322Ala	missense variant	-	NC_000013.11:g.110503207C>G	ExAC,TOPMed,gnomAD
rs1399856610	p.Gly1323Arg	missense variant	-	NC_000013.11:g.110503210G>C	gnomAD
rs1393050971	p.Lys1325Glu	missense variant	-	NC_000013.11:g.110503216A>G	gnomAD
rs1288983568	p.Gly1326Arg	missense variant	-	NC_000013.11:g.110503219G>A	gnomAD
rs1416541915	p.Trp1327Arg	missense variant	-	NC_000013.11:g.110503222T>C	TOPMed,gnomAD
rs1483534631	p.Ala1328Ser	missense variant	-	NC_000013.11:g.110503225G>T	TOPMed
rs760842202	p.Gly1329Arg	missense variant	-	NC_000013.11:g.110503228G>A	ExAC,gnomAD
rs370540848	p.Asp1330Asn	missense variant	-	NC_000013.11:g.110503231G>A	ESP,ExAC,TOPMed,gnomAD
rs1213576989	p.Ser1331Phe	missense variant	-	NC_000013.11:g.110503235C>T	TOPMed
rs1213576989	p.Ser1331Cys	missense variant	-	NC_000013.11:g.110503235C>G	TOPMed
rs762275000	p.Gly1332Arg	missense variant	-	NC_000013.11:g.110503237G>A	ExAC,gnomAD
rs1207836357	p.Pro1333Leu	missense variant	-	NC_000013.11:g.110503241C>T	gnomAD
rs1482520970	p.Pro1333Thr	missense variant	-	NC_000013.11:g.110503240C>A	gnomAD
NCI-TCGA novel	p.Gly1335Asp	missense variant	-	NC_000013.11:g.110503247G>A	NCI-TCGA
rs550468643	p.Arg1336Ser	missense variant	-	NC_000013.11:g.110503251G>T	1000Genomes,ExAC,gnomAD
rs372631674	p.Arg1336Lys	missense variant	-	NC_000013.11:g.110503250G>A	ESP,ExAC,TOPMed,gnomAD
rs1433959439	p.Pro1337Leu	missense variant	-	NC_000013.11:g.110503253C>T	gnomAD
rs777686568	p.Gly1338Asp	missense variant	-	NC_000013.11:g.110503256G>A	ExAC,gnomAD
rs749164047	p.Val1339Met	missense variant	-	NC_000013.11:g.110503258G>A	ExAC,gnomAD
rs1308499189	p.Phe1340Leu	missense variant	-	NC_000013.11:g.110503261T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gly1344Ter	stop gained	-	NC_000013.11:g.110503273G>T	NCI-TCGA
rs1407965001	p.Glu1345Lys	missense variant	-	NC_000013.11:g.110503276G>A	gnomAD
NCI-TCGA novel	p.Glu1345Gln	missense variant	-	NC_000013.11:g.110503276G>C	NCI-TCGA
rs1220955619	p.Pro1348His	missense variant	-	NC_000013.11:g.110503386C>A	gnomAD
rs1263862222	p.Arg1349Thr	missense variant	-	NC_000013.11:g.110503389G>C	gnomAD
rs752196986	p.Gly1353Ser	missense variant	-	NC_000013.11:g.110503400G>A	ExAC,gnomAD
rs1064795332	p.Gly1353Ala	missense variant	-	NC_000013.11:g.110503401G>C	-
RCV000480552	p.Gly1353Ala	missense variant	-	NC_000013.11:g.110503401G>C	ClinVar
rs199956455	p.Met1355Thr	missense variant	-	NC_000013.11:g.110503407T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1261586546	p.Gly1356Arg	missense variant	-	NC_000013.11:g.110503409G>A	gnomAD
rs1272704133	p.Gly1359Arg	missense variant	-	NC_000013.11:g.110503418G>A	TOPMed
rs11617214	p.Thr1361Ser	missense variant	-	NC_000013.11:g.110503424A>T	gnomAD
rs11617214	p.Thr1361Ala	missense variant	-	NC_000013.11:g.110503424A>G	gnomAD
rs757047420	p.Gly1362Arg	missense variant	-	NC_000013.11:g.110503427G>A	ExAC,gnomAD
rs1391182355	p.Ala1363Val	missense variant	-	NC_000013.11:g.110503431C>T	gnomAD
rs758319138	p.Val1364Leu	missense variant	-	NC_000013.11:g.110503433G>T	ExAC,TOPMed,gnomAD
rs758319138	p.Val1364Leu	missense variant	-	NC_000013.11:g.110503433G>C	ExAC,TOPMed,gnomAD
rs747122463	p.Gly1365Ala	missense variant	-	NC_000013.11:g.110503437G>C	ExAC,gnomAD
rs1390259773	p.Gly1365Ser	missense variant	-	NC_000013.11:g.110503436G>A	gnomAD
RCV000400289	p.Asp1366Asn	missense variant	Porencephalic cyst	NC_000013.11:g.110503439G>A	ClinVar
rs558814304	p.Asp1366Asn	missense variant	-	NC_000013.11:g.110503439G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1370Arg	missense variant	-	NC_000013.11:g.110503452A>G	NCI-TCGA
COSM4839241	p.Pro1372Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110503457C>T	NCI-TCGA Cosmic
rs368612819	p.Asp1375Asn	missense variant	-	NC_000013.11:g.110503466G>A	ESP,ExAC,TOPMed,gnomAD
rs867192113	p.Phe1378Leu	missense variant	-	NC_000013.11:g.110503477C>A	gnomAD
rs201561499	p.Ala1381Thr	missense variant	-	NC_000013.11:g.110503849G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1381Val	missense variant	-	NC_000013.11:g.110503850C>T	NCI-TCGA
rs1207619075	p.Pro1382Ser	missense variant	-	NC_000013.11:g.110503852C>T	TOPMed
rs797044947	p.Gly1383Arg	missense variant	-	NC_000013.11:g.110503855G>A	-
RCV000190797	p.Gly1383Arg	missense variant	Inborn genetic diseases	NC_000013.11:g.110503855G>A	ClinVar
RCV000761267	p.Gly1383Arg	missense variant	Porencephaly 2 (BSVD2)	NC_000013.11:g.110503855G>A	ClinVar
COSM3872849	p.Thr1384Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110503859C>T	NCI-TCGA Cosmic
rs749680471	p.Ala1387Asp	missense variant	-	NC_000013.11:g.110503868C>A	ExAC,TOPMed,gnomAD
rs749680471	p.Ala1387Val	missense variant	-	NC_000013.11:g.110503868C>T	ExAC,TOPMed,gnomAD
rs371751894	p.Pro1388Leu	missense variant	-	NC_000013.11:g.110503871C>T	ESP,ExAC,TOPMed,gnomAD
rs1172869583	p.Pro1388Thr	missense variant	-	NC_000013.11:g.110503870C>A	gnomAD
VAR_067556	p.Gly1389Arg	Missense	-	-	UniProt
rs1284610180	p.Ala1391Thr	missense variant	-	NC_000013.11:g.110503879G>A	TOPMed
COSM3467237	p.Gly1392Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110503883G>A	NCI-TCGA Cosmic
COSM2263164	p.Pro1394Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110503888C>T	NCI-TCGA Cosmic
rs1249033039	p.Gln1395Pro	missense variant	-	NC_000013.11:g.110503892A>C	gnomAD
rs764867819	p.Ile1397Phe	missense variant	-	NC_000013.11:g.110503897A>T	ExAC,gnomAD
rs545854852	p.Ala1398Thr	missense variant	-	NC_000013.11:g.110503900G>A	1000Genomes,ExAC,gnomAD
rs45520539	p.Val1399Ile	missense variant	-	NC_000013.11:g.110503903G>A	UniProt,dbSNP
VAR_067557	p.Val1399Ile	missense variant	-	NC_000013.11:g.110503903G>A	UniProt
rs45520539	p.Val1399Ile	missense variant	-	NC_000013.11:g.110503903G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000840150	p.Val1399Ile	missense variant	-	NC_000013.11:g.110503903G>A	ClinVar
COSM266290	p.Val1399Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110503904T>C	NCI-TCGA Cosmic
rs1343956258	p.Pro1401Leu	missense variant	-	NC_000013.11:g.110503910C>T	gnomAD
rs766197459	p.Pro1401Ser	missense variant	-	NC_000013.11:g.110503909C>T	ExAC,TOPMed,gnomAD
rs1231833905	p.Gly1402Glu	missense variant	-	NC_000013.11:g.110503913G>A	gnomAD
rs560510434	p.Thr1403Lys	missense variant	-	NC_000013.11:g.110503916C>A	ExAC,TOPMed,gnomAD
rs1204409034	p.Val1404Ala	missense variant	-	NC_000013.11:g.110503919T>C	gnomAD
rs1452839928	p.Pro1406Ser	missense variant	-	NC_000013.11:g.110503924C>T	gnomAD
rs1245796138	p.Gly1408Glu	missense variant	-	NC_000013.11:g.110503931G>A	gnomAD
COSM4045966	p.Arg1409Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110503934G>T	NCI-TCGA Cosmic
rs1004346642	p.Arg1410Gln	missense variant	-	NC_000013.11:g.110503937G>A	TOPMed,gnomAD
rs752813292	p.Arg1410Ter	stop gained	-	NC_000013.11:g.110503936C>T	ExAC,TOPMed,gnomAD
rs777801935	p.Pro1412Leu	missense variant	-	NC_000013.11:g.110503943C>T	ExAC,TOPMed,gnomAD
rs777801935	p.Pro1412His	missense variant	-	NC_000013.11:g.110503943C>A	ExAC,TOPMed,gnomAD
rs939754886	p.Pro1412Thr	missense variant	-	NC_000013.11:g.110503942C>A	TOPMed
rs746358615	p.Pro1413Ala	missense variant	-	NC_000013.11:g.110503945C>G	ExAC,gnomAD
rs776279146	p.Pro1416Leu	missense variant	-	NC_000013.11:g.110503955C>T	ExAC,TOPMed
rs1299518485	p.Pro1416Thr	missense variant	-	NC_000013.11:g.110503954C>A	gnomAD
rs1299518485	p.Pro1416Ser	missense variant	-	NC_000013.11:g.110503954C>T	gnomAD
rs772670950	p.Glu1418Asp	missense variant	-	NC_000013.11:g.110503962G>C	ExAC,gnomAD
rs191708663	p.Met1419Arg	missense variant	-	NC_000013.11:g.110503964T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000317764	p.Met1419Thr	missense variant	Porencephalic cyst	NC_000013.11:g.110503964T>C	ClinVar
RCV000262550	p.Met1419Val	missense variant	Porencephalic cyst	NC_000013.11:g.110503963A>G	ClinVar
rs531809013	p.Met1419Val	missense variant	-	NC_000013.11:g.110503963A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs191708663	p.Met1419Thr	missense variant	-	NC_000013.11:g.110503964T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1209947325	p.Gly1420Val	missense variant	-	NC_000013.11:g.110503967G>T	gnomAD
rs759437629	p.Gly1423Ala	missense variant	-	NC_000013.11:g.110503976G>C	ExAC,TOPMed
RCV000478453	p.Gly1423Ala	missense variant	-	NC_000013.11:g.110503976G>C	ClinVar
rs200966050	p.Pro1424Leu	missense variant	-	NC_000013.11:g.110503979C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1424Ser	missense variant	-	NC_000013.11:g.110503978C>T	NCI-TCGA
rs752758417	p.Pro1425Ala	missense variant	-	NC_000013.11:g.110503981C>G	ExAC,TOPMed,gnomAD
rs1450481308	p.Pro1425His	missense variant	-	NC_000013.11:g.110503982C>A	TOPMed,gnomAD
rs752758417	p.Pro1425Ser	missense variant	-	NC_000013.11:g.110503981C>T	ExAC,TOPMed,gnomAD
rs34603892	p.Gly1426ArgPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.110503976_110503977insC	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1426GluPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.110503977C>-	NCI-TCGA
rs896383260	p.Glu1427Lys	missense variant	-	NC_000013.11:g.110503987G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu1427Ter	stop gained	-	NC_000013.11:g.110503987G>T	NCI-TCGA
rs548131143	p.Pro1428Ala	missense variant	-	NC_000013.11:g.110503990C>G	1000Genomes
rs1370359381	p.Gly1429Arg	missense variant	-	NC_000013.11:g.110503993G>C	TOPMed
rs747420947	p.Arg1431His	missense variant	-	NC_000013.11:g.110504154G>A	ExAC,TOPMed,gnomAD
rs139124960	p.Arg1431Cys	missense variant	-	NC_000013.11:g.110504153C>T	gnomAD
rs1201468274	p.Gly1432Arg	missense variant	-	NC_000013.11:g.110504156G>A	gnomAD
rs777115586	p.Ala1433Pro	missense variant	-	NC_000013.11:g.110504159G>C	ExAC,TOPMed,gnomAD
rs777115586	p.Ala1433Thr	missense variant	-	NC_000013.11:g.110504159G>A	ExAC,TOPMed,gnomAD
rs748895498	p.Ala1433Gly	missense variant	-	NC_000013.11:g.110504160C>G	ExAC,gnomAD
COSM3467239	p.Gly1438Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110504175G>A	NCI-TCGA Cosmic
rs538325329	p.Pro1439Leu	missense variant	-	NC_000013.11:g.110504178C>T	TOPMed,gnomAD
rs1379081692	p.Pro1439Thr	missense variant	-	NC_000013.11:g.110504177C>A	gnomAD
COSM5136913	p.Gly1441Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110504184G>A	NCI-TCGA Cosmic
COSM1128421	p.Gly1441Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.110504183G>T	NCI-TCGA Cosmic
rs773933253	p.Val1445Met	missense variant	-	NC_000013.11:g.110504195G>A	ExAC,gnomAD
rs773933253	p.Val1445Leu	missense variant	-	NC_000013.11:g.110504195G>C	ExAC,gnomAD
rs745552628	p.Ala1447Pro	missense variant	-	NC_000013.11:g.110504201G>C	ExAC,gnomAD
rs771806972	p.Val1448Ile	missense variant	-	NC_000013.11:g.110504204G>A	ExAC,gnomAD
rs775404761	p.Pro1449Thr	missense variant	-	NC_000013.11:g.110504207C>A	ExAC,gnomAD
rs1302972775	p.Pro1449His	missense variant	-	NC_000013.11:g.110504208C>A	gnomAD
rs1234458228	p.Gly1450Ser	missense variant	-	NC_000013.11:g.110504210G>A	TOPMed,gnomAD
rs371170690	p.Phe1451Leu	missense variant	-	NC_000013.11:g.110504213T>C	ESP
rs200481653	p.Arg1452Trp	missense variant	-	NC_000013.11:g.110504216C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766357778	p.Arg1452Gln	missense variant	-	NC_000013.11:g.110504217G>A	ExAC,TOPMed,gnomAD
rs1555333626	p.Gly1453Ter	stop gained	-	NC_000013.11:g.110504219G>T	-
RCV000513067	p.Gly1453Ter	nonsense	-	NC_000013.11:g.110504219G>T	ClinVar
rs1351462767	p.Gly1453Ala	missense variant	-	NC_000013.11:g.110504220G>C	gnomAD
NCI-TCGA novel	p.Gly1453Glu	missense variant	-	NC_000013.11:g.110504220G>A	NCI-TCGA
NCI-TCGA novel	p.Glu1455Lys	missense variant	-	NC_000013.11:g.110504225G>A	NCI-TCGA
rs761897034	p.Ile1458Thr	missense variant	-	NC_000013.11:g.110504235T>C	ExAC,gnomAD
rs765414788	p.Gly1459Val	missense variant	-	NC_000013.11:g.110504238G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1459Asp	missense variant	-	NC_000013.11:g.110504238G>A	NCI-TCGA
rs201973817	p.Gln1461His	missense variant	-	NC_000013.11:g.110504245G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766824658	p.Pro1463Leu	missense variant	-	NC_000013.11:g.110504250C>T	ExAC,gnomAD
rs751993863	p.Ile1464Thr	missense variant	-	NC_000013.11:g.110504253T>C	ExAC,gnomAD
rs202207552	p.Glu1467Gly	missense variant	-	NC_000013.11:g.110504262A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs202207552	p.Glu1467Ala	missense variant	-	NC_000013.11:g.110504262A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1467Gln	missense variant	-	NC_000013.11:g.110504261G>C	NCI-TCGA
rs1241353532	p.Gly1468Ala	missense variant	-	NC_000013.11:g.110506415G>C	gnomAD
rs1336056932	p.Ala1469Thr	missense variant	-	NC_000013.11:g.110506417G>A	TOPMed
rs1484844637	p.Ala1469Val	missense variant	-	NC_000013.11:g.110506418C>T	gnomAD
rs1183593059	p.Pro1470Leu	missense variant	-	NC_000013.11:g.110506421C>T	gnomAD
rs1182910012	p.Pro1470Thr	missense variant	-	NC_000013.11:g.110506420C>A	TOPMed,gnomAD
rs779703009	p.Arg1472Cys	missense variant	-	NC_000013.11:g.110506426C>T	ExAC,TOPMed,gnomAD
rs368014743	p.Arg1472His	missense variant	-	NC_000013.11:g.110506427G>A	ESP,ExAC,TOPMed,gnomAD
rs1441702164	p.Gly1474Arg	missense variant	-	NC_000013.11:g.110506432G>A	TOPMed
rs1413761550	p.Gly1474Glu	missense variant	-	NC_000013.11:g.110506433G>A	gnomAD
rs768460810	p.Pro1476Leu	missense variant	-	NC_000013.11:g.110506439C>T	ExAC,TOPMed,gnomAD
rs748071531	p.Pro1479Ser	missense variant	-	NC_000013.11:g.110506447C>T	ExAC,gnomAD
RCV000277848	p.Pro1479Leu	missense variant	Porencephalic cyst	NC_000013.11:g.110506448C>T	ClinVar
rs377115391	p.Pro1479Leu	missense variant	-	NC_000013.11:g.110506448C>T	ESP,ExAC,TOPMed,gnomAD
rs763183089	p.Met1481Val	missense variant	-	NC_000013.11:g.110506453A>G	ExAC,gnomAD
rs770926546	p.Pro1482Leu	missense variant	-	NC_000013.11:g.110506457C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro1482Thr	missense variant	-	NC_000013.11:g.110506456C>A	NCI-TCGA
rs912915196	p.Gly1483Asp	missense variant	-	NC_000013.11:g.110506460G>A	gnomAD
rs774564238	p.Gly1483Arg	missense variant	-	NC_000013.11:g.110506459G>C	ExAC,gnomAD
rs767902568	p.Arg1484His	missense variant	-	NC_000013.11:g.110506463G>A	ExAC,TOPMed,gnomAD
rs189639861	p.Arg1484Cys	missense variant	-	NC_000013.11:g.110506462C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs753103440	p.Ser1485Cys	missense variant	-	NC_000013.11:g.110506465A>T	ExAC,gnomAD
rs761168539	p.Ser1485Ile	missense variant	-	NC_000013.11:g.110506466G>T	ExAC
rs754359533	p.Val1486Gly	missense variant	-	NC_000013.11:g.110506469T>G	ExAC,gnomAD
rs201426733	p.Val1486Ile	missense variant	-	NC_000013.11:g.110506468G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000332995	p.Val1486Ile	missense variant	Porencephalic cyst	NC_000013.11:g.110506468G>A	ClinVar
rs754359533	p.Val1486Ala	missense variant	-	NC_000013.11:g.110506469T>C	ExAC,gnomAD
rs376670424	p.Ile1488Val	missense variant	-	NC_000013.11:g.110506474A>G	ESP,ExAC,TOPMed,gnomAD
rs1025762255	p.Gly1489Asp	missense variant	-	NC_000013.11:g.110506478G>A	TOPMed,gnomAD
rs760682735	p.Gly1489Ser	missense variant	-	NC_000013.11:g.110506477G>A	ExAC,TOPMed,gnomAD
rs201082622	p.Tyr1490Ter	stop gained	-	NC_000013.11:g.110506482C>A	ExAC,gnomAD
rs781007619	p.Tyr1490His	missense variant	-	NC_000013.11:g.110506480T>C	ExAC,TOPMed,gnomAD
rs777792779	p.Leu1491Pro	missense variant	-	NC_000013.11:g.110506484T>C	ExAC,gnomAD
rs1339941004	p.Leu1491Phe	missense variant	-	NC_000013.11:g.110506483C>T	TOPMed
COSM4924169	p.Leu1492Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110506487T>A	NCI-TCGA Cosmic
rs1414768740	p.Lys1494Met	missense variant	-	NC_000013.11:g.110506493A>T	gnomAD
rs201790726	p.Ser1496Thr	missense variant	-	NC_000013.11:g.110506499G>C	ESP,ExAC,TOPMed,gnomAD
rs1443114367	p.Gln1497Arg	missense variant	-	NC_000013.11:g.110506502A>G	gnomAD
rs771002365	p.Thr1498Met	missense variant	-	NC_000013.11:g.110506505C>T	ExAC,TOPMed,gnomAD
rs772251017	p.Gln1500Arg	missense variant	-	NC_000013.11:g.110506511A>G	ExAC,gnomAD
rs746072214	p.Gln1500Glu	missense variant	-	NC_000013.11:g.110506510C>G	ExAC,TOPMed,gnomAD
rs775820945	p.Pro1502Leu	missense variant	-	NC_000013.11:g.110506517C>T	ExAC,gnomAD
rs760974648	p.Met1503Leu	missense variant	-	NC_000013.11:g.110506519A>C	ExAC,gnomAD
rs764449751	p.Met1503Thr	missense variant	-	NC_000013.11:g.110506520T>C	ExAC,gnomAD
rs777086508	p.Pro1505Leu	missense variant	-	NC_000013.11:g.110506526C>T	ExAC,TOPMed,gnomAD
rs1468887976	p.Gly1507Asp	missense variant	-	NC_000013.11:g.110506532G>A	gnomAD
COSM1365458	p.Met1508Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110506536G>A	NCI-TCGA Cosmic
rs200314049	p.Trp1512Arg	missense variant	-	NC_000013.11:g.110506546T>C	ExAC,TOPMed,gnomAD
rs751067625	p.Trp1512Ter	stop gained	-	NC_000013.11:g.110506547G>A	ExAC,gnomAD
rs751067625	p.Trp1512Leu	missense variant	-	NC_000013.11:g.110506547G>T	ExAC,gnomAD
rs1264516110	p.Ser1513Asn	missense variant	-	NC_000013.11:g.110506550G>A	TOPMed
rs182278784	p.Glu1521Gln	missense variant	-	NC_000013.11:g.110506573G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000293231	p.Glu1521Lys	missense variant	Porencephalic cyst	NC_000013.11:g.110506573G>A	ClinVar
rs182278784	p.Glu1521Lys	missense variant	-	NC_000013.11:g.110506573G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs749216552	p.Gly1522Asp	missense variant	-	NC_000013.11:g.110506577G>A	ExAC,gnomAD
rs757182846	p.Ala1526Val	missense variant	-	NC_000013.11:g.110506589C>T	ExAC,TOPMed,gnomAD
rs376782255	p.Asn1528Ser	missense variant	-	NC_000013.11:g.110506595A>G	ESP,TOPMed,gnomAD
rs1216560732	p.Gln1529Ter	stop gained	-	NC_000013.11:g.110506597C>T	TOPMed
NCI-TCGA novel	p.Gln1529Lys	missense variant	-	NC_000013.11:g.110506597C>A	NCI-TCGA
rs1317279885	p.Asp1530Glu	missense variant	-	NC_000013.11:g.110506602C>G	TOPMed
rs771658901	p.Leu1533Pro	missense variant	-	NC_000013.11:g.110507938T>C	ExAC,gnomAD
rs760399386	p.Ala1534Ser	missense variant	-	NC_000013.11:g.110507940G>T	ExAC,TOPMed,gnomAD
rs763898774	p.Ala1534Val	missense variant	-	NC_000013.11:g.110507941C>T	ExAC,TOPMed,gnomAD
rs760399386	p.Ala1534Thr	missense variant	-	NC_000013.11:g.110507940G>A	ExAC,TOPMed,gnomAD
rs568049102	p.Gly1535Asp	missense variant	-	NC_000013.11:g.110507944G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1316147309	p.Cys1537Tyr	missense variant	-	NC_000013.11:g.110507950G>A	gnomAD
rs1341684474	p.Leu1538Val	missense variant	-	NC_000013.11:g.110507952C>G	gnomAD
rs765114159	p.Ala1539Val	missense variant	-	NC_000013.11:g.110507956C>T	ExAC,TOPMed,gnomAD
rs375976442	p.Arg1540Trp	missense variant	-	NC_000013.11:g.110507958C>T	ESP,ExAC,TOPMed,gnomAD
rs368863212	p.Arg1540Gln	missense variant	-	NC_000013.11:g.110507959G>A	ESP,ExAC,TOPMed,gnomAD
rs201158095	p.Phe1541Leu	missense variant	-	NC_000013.11:g.110507963C>G	ExAC,TOPMed,gnomAD
rs1287472634	p.Ser1542Asn	missense variant	-	NC_000013.11:g.110507965G>A	gnomAD
rs372092879	p.Thr1543Ile	missense variant	-	NC_000013.11:g.110507968C>T	ESP,ExAC,TOPMed,gnomAD
rs1486671980	p.Asn1550Asp	missense variant	-	NC_000013.11:g.110507988A>G	gnomAD
rs1188711710	p.Asn1550Ser	missense variant	-	NC_000013.11:g.110507989A>G	gnomAD
rs1474345987	p.Pro1551Leu	missense variant	-	NC_000013.11:g.110507992C>T	gnomAD
rs781210303	p.Pro1551Ala	missense variant	-	NC_000013.11:g.110507991C>G	ExAC,gnomAD
COSM945369	p.Pro1551Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110507991C>A	NCI-TCGA Cosmic
rs770012202	p.Gly1552Val	missense variant	-	NC_000013.11:g.110507995G>T	ExAC,gnomAD
rs1452815964	p.Asp1553His	missense variant	-	NC_000013.11:g.110507997G>C	gnomAD
rs1367879331	p.Tyr1556Cys	missense variant	-	NC_000013.11:g.110508007A>G	gnomAD
NCI-TCGA novel	p.Tyr1557MetPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.110508009T>-	NCI-TCGA
rs1435315524	p.Ala1558Thr	missense variant	-	NC_000013.11:g.110508012G>A	gnomAD
rs374790851	p.Ala1558Val	missense variant	-	NC_000013.11:g.110508013C>T	ESP,ExAC,TOPMed,gnomAD
rs1411209661	p.Arg1560Gln	missense variant	-	NC_000013.11:g.110508019G>A	TOPMed,gnomAD
rs1353098387	p.Arg1560Trp	missense variant	-	NC_000013.11:g.110508018C>T	TOPMed,gnomAD
RCV000498178	p.Arg1560Trp	missense variant	-	NC_000013.11:g.110508018C>T	ClinVar
rs368443057	p.Asn1561Lys	missense variant	-	NC_000013.11:g.110508023C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs771634327	p.Asp1562Asn	missense variant	-	NC_000013.11:g.110508024G>A	ExAC,TOPMed,gnomAD
rs1238821561	p.Lys1563Arg	missense variant	-	NC_000013.11:g.110508028A>G	gnomAD
rs775127177	p.Ser1564Tyr	missense variant	-	NC_000013.11:g.110508031C>A	ExAC,TOPMed,gnomAD
rs768286758	p.Tyr1565Cys	missense variant	-	NC_000013.11:g.110508034A>G	ExAC,gnomAD
rs760207140	p.Tyr1565His	missense variant	-	NC_000013.11:g.110508033T>C	ExAC,gnomAD
rs1394231981	p.Thr1569Ala	missense variant	-	NC_000013.11:g.110508045A>G	TOPMed
rs201300563	p.Ala1571Val	missense variant	-	NC_000013.11:g.110508052C>T	ESP,ExAC,TOPMed,gnomAD
COSM945370	p.Ala1571Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110508052C>G	NCI-TCGA Cosmic
rs762869561	p.Met1575Thr	missense variant	-	NC_000013.11:g.110508064T>C	ExAC,gnomAD
rs1396717078	p.Met1576Ile	missense variant	-	NC_000013.11:g.110508068G>A	gnomAD
NCI-TCGA novel	p.Pro1577Ser	missense variant	-	NC_000013.11:g.110508069C>T	NCI-TCGA
rs376052562	p.Val1578Met	missense variant	-	NC_000013.11:g.110508072G>A	ESP,ExAC,TOPMed,gnomAD
rs898618662	p.Ala1579Thr	missense variant	-	NC_000013.11:g.110508075G>A	TOPMed
rs767665017	p.Glu1580Lys	missense variant	-	NC_000013.11:g.110508078G>A	ExAC,gnomAD
COSM6138539	p.Glu1580Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110508078G>C	NCI-TCGA Cosmic
rs373615754	p.Asp1581Asn	missense variant	-	NC_000013.11:g.110508081G>A	ESP,ExAC,gnomAD
rs376636910	p.Glu1582Lys	missense variant	-	NC_000013.11:g.110508084G>A	ESP,ExAC,TOPMed,gnomAD
rs749729146	p.Lys1584Gln	missense variant	-	NC_000013.11:g.110508090A>C	ExAC,gnomAD
rs557976330	p.Pro1585Arg	missense variant	-	NC_000013.11:g.110508094C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1373650840	p.Pro1585Ser	missense variant	-	NC_000013.11:g.110508093C>T	gnomAD
COSM945372	p.Pro1585Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110508093C>A	NCI-TCGA Cosmic
rs779497458	p.Ile1587Thr	missense variant	-	NC_000013.11:g.110508100T>C	ExAC,gnomAD
rs768005452	p.Arg1589Cys	missense variant	-	NC_000013.11:g.110508105C>T	ExAC,gnomAD
rs776257191	p.Arg1589His	missense variant	-	NC_000013.11:g.110508106G>A	ExAC,TOPMed,gnomAD
rs569625788	p.Ser1591Cys	missense variant	-	NC_000013.11:g.110508112C>G	ExAC,TOPMed,gnomAD
rs769552339	p.Val1592Ala	missense variant	-	NC_000013.11:g.110508115T>C	ExAC,gnomAD
rs766164837	p.Pro1596Ser	missense variant	-	NC_000013.11:g.110508126C>T	ExAC,TOPMed,gnomAD
rs774230815	p.Pro1596Leu	missense variant	-	NC_000013.11:g.110508127C>T	ExAC,gnomAD
rs374339847	p.Ile1598Phe	missense variant	-	NC_000013.11:g.110508132A>T	ESP,ExAC,TOPMed,gnomAD
rs374339847	p.Ile1598Val	missense variant	-	NC_000013.11:g.110508132A>G	ESP,ExAC,TOPMed,gnomAD
rs752861934	p.Ala1599Thr	missense variant	-	NC_000013.11:g.110508135G>A	ExAC,TOPMed,gnomAD
rs754118201	p.Ala1601Val	missense variant	-	NC_000013.11:g.110508142C>T	ExAC,TOPMed,gnomAD
rs764320185	p.Ala1601Thr	missense variant	-	NC_000013.11:g.110508141G>A	ExAC,TOPMed,gnomAD
rs779445980	p.His1603Asn	missense variant	-	NC_000013.11:g.110508147C>A	ExAC,TOPMed,gnomAD
rs746358473	p.Gln1605His	missense variant	-	NC_000013.11:g.110508155G>C	ExAC,gnomAD
RCV000761861	p.Gln1605His	missense variant	-	NC_000013.11:g.110508155G>C	ClinVar
NCI-TCGA novel	p.Ser1608Phe	missense variant	-	NC_000013.11:g.110508163C>T	NCI-TCGA
rs758988255	p.Ile1609Met	missense variant	-	NC_000013.11:g.110508167C>G	ExAC,TOPMed,gnomAD
rs377451586	p.Pro1610Ser	missense variant	-	NC_000013.11:g.110508168C>T	ESP,ExAC,TOPMed,gnomAD
rs1275313652	p.Pro1610Leu	missense variant	-	NC_000013.11:g.110508169C>T	gnomAD
rs574412120	p.Ala1614Val	missense variant	-	NC_000013.11:g.110508181C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs574412120	p.Ala1614Asp	missense variant	-	NC_000013.11:g.110508181C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs748967769	p.Arg1617Gln	missense variant	-	NC_000013.11:g.110508190G>A	ExAC,TOPMed,gnomAD
rs1486800811	p.Arg1617Trp	missense variant	-	NC_000013.11:g.110508189C>T	TOPMed,gnomAD
RCV000485539	p.Arg1617Gln	missense variant	-	NC_000013.11:g.110508190G>A	ClinVar
rs770662096	p.Ile1621Met	missense variant	-	NC_000013.11:g.110508203C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile1621Ser	missense variant	-	NC_000013.11:g.110508202T>G	NCI-TCGA
rs541766007	p.Gly1622Arg	missense variant	-	NC_000013.11:g.110508204G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met1627Val	missense variant	-	NC_000013.11:g.110508219A>G	NCI-TCGA
rs762126668	p.Thr1629Met	missense variant	-	NC_000013.11:g.110511938C>T	ExAC,TOPMed,gnomAD
rs750683535	p.Ala1630Val	missense variant	-	NC_000013.11:g.110511941C>T	ExAC,TOPMed,gnomAD
rs201495557	p.Ala1631Val	missense variant	-	NC_000013.11:g.110511944C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM3467241	p.Gly1632Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110511947G>A	NCI-TCGA Cosmic
rs1409172276	p.Asp1633Gly	missense variant	-	NC_000013.11:g.110511950A>G	TOPMed
rs1234289971	p.Glu1634Lys	missense variant	-	NC_000013.11:g.110511952G>A	TOPMed,gnomAD
rs753412782	p.Gly1636Ser	missense variant	-	NC_000013.11:g.110511958G>A	ExAC,TOPMed,gnomAD
rs1257324899	p.Gln1638Arg	missense variant	-	NC_000013.11:g.110511965A>G	TOPMed
rs77786415	p.Ser1639Leu	missense variant	-	NC_000013.11:g.110511968C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756772866	p.Ser1639Pro	missense variant	-	NC_000013.11:g.110511967T>C	ExAC,TOPMed,gnomAD
RCV000354257	p.Ser1639Leu	missense variant	Porencephalic cyst	NC_000013.11:g.110511968C>T	ClinVar
rs745538920	p.Leu1640Val	missense variant	-	NC_000013.11:g.110511970C>G	ExAC,gnomAD
rs1376093675	p.Val1641Met	missense variant	-	NC_000013.11:g.110511973G>A	gnomAD
rs200681591	p.Pro1643Leu	missense variant	-	NC_000013.11:g.110511980C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200681591	p.Pro1643Arg	missense variant	-	NC_000013.11:g.110511980C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1434216422	p.Pro1643Ser	missense variant	-	NC_000013.11:g.110511979C>T	gnomAD
rs754860447	p.Gly1644Asp	missense variant	-	NC_000013.11:g.110511983G>A	ExAC,gnomAD
rs569071842	p.Arg1651Cys	missense variant	-	NC_000013.11:g.110512003C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs769994500	p.Arg1651His	missense variant	-	NC_000013.11:g.110512004G>A	ExAC,gnomAD
COSM4045967	p.Arg1651Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110512004G>T	NCI-TCGA Cosmic
rs763103910	p.Ala1652Thr	missense variant	-	NC_000013.11:g.110512006G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr1653Pro	missense variant	-	NC_000013.11:g.110512009A>C	NCI-TCGA
rs1232600556	p.Glu1657Lys	missense variant	-	NC_000013.11:g.110512021G>A	gnomAD
rs768069575	p.Glu1657Ala	missense variant	-	NC_000013.11:g.110512022A>C	ExAC
rs756717766	p.Asn1659Thr	missense variant	-	NC_000013.11:g.110512028A>C	ExAC,TOPMed,gnomAD
rs753207768	p.Asn1659His	missense variant	-	NC_000013.11:g.110512027A>C	ExAC
rs756717766	p.Asn1659Ser	missense variant	-	NC_000013.11:g.110512028A>G	ExAC,TOPMed,gnomAD
rs373806617	p.Gly1661Ser	missense variant	-	NC_000013.11:g.110512033G>A	ExAC,TOPMed,gnomAD
rs746842146	p.Arg1662Cys	missense variant	-	NC_000013.11:g.110512036C>T	ExAC,TOPMed,gnomAD
rs746842146	p.Arg1662Gly	missense variant	-	NC_000013.11:g.110512036C>G	ExAC,TOPMed,gnomAD
rs200192119	p.Arg1662His	missense variant	-	NC_000013.11:g.110512037G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746842146	p.Arg1662Ser	missense variant	-	NC_000013.11:g.110512036C>A	ExAC,TOPMed,gnomAD
RCV000369382	p.Arg1662His	missense variant	Porencephalic cyst	NC_000013.11:g.110512037G>A	ClinVar
rs12877501	p.Gly1663Ser	missense variant	-	NC_000013.11:g.110512039G>A	ESP,ExAC,TOPMed,gnomAD
rs771126631	p.Gly1663Ala	missense variant	-	NC_000013.11:g.110512040G>C	ExAC,gnomAD
rs12877501	p.Gly1663Arg	missense variant	-	NC_000013.11:g.110512039G>C	ESP,ExAC,TOPMed,gnomAD
RCV000274759	p.Gly1663Ser	missense variant	Porencephalic cyst	NC_000013.11:g.110512039G>A	ClinVar
rs771126631	p.Gly1663Asp	missense variant	-	NC_000013.11:g.110512040G>A	ExAC,gnomAD
rs199702442	p.Thr1664Pro	missense variant	-	NC_000013.11:g.110512042A>C	ExAC,gnomAD
rs761217889	p.His1666Arg	missense variant	-	NC_000013.11:g.110512049A>G	ExAC,TOPMed,gnomAD
rs749965555	p.Tyr1668Cys	missense variant	-	NC_000013.11:g.110512055A>G	ExAC,gnomAD
rs199959120	p.Ala1669Pro	missense variant	-	NC_000013.11:g.110512057G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199959120	p.Ala1669Thr	missense variant	-	NC_000013.11:g.110512057G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754784235	p.Ser1673Thr	missense variant	-	NC_000013.11:g.110512070G>C	ExAC,TOPMed,gnomAD
RCV000585157	p.Ser1673Thr	missense variant	-	NC_000013.11:g.110512070G>C	ClinVar
rs1254083898	p.Phe1674Leu	missense variant	-	NC_000013.11:g.110512074C>A	gnomAD
NCI-TCGA novel	p.Trp1675Ter	stop gained	-	NC_000013.11:g.110512076G>A	NCI-TCGA
rs1451528719	p.Thr1677Pro	missense variant	-	NC_000013.11:g.110512081A>C	gnomAD
rs201647127	p.Thr1678Ile	missense variant	-	NC_000013.11:g.110512085C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1352195646	p.Thr1678Ala	missense variant	-	NC_000013.11:g.110512084A>G	TOPMed,gnomAD
rs1243856152	p.Ile1679Thr	missense variant	-	NC_000013.11:g.110512088T>C	gnomAD
rs1475794097	p.Pro1680Thr	missense variant	-	NC_000013.11:g.110512090C>A	gnomAD
COSM3872852	p.Pro1680Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110512090C>T	NCI-TCGA Cosmic
rs756162551	p.Glu1681Gln	missense variant	-	NC_000013.11:g.110512093G>C	ExAC,gnomAD
rs777905652	p.Glu1681Gly	missense variant	-	NC_000013.11:g.110512094A>G	ExAC,TOPMed,gnomAD
rs756162551	p.Glu1681Lys	missense variant	-	NC_000013.11:g.110512093G>A	ExAC,gnomAD
rs374574952	p.Gln1682Glu	missense variant	-	NC_000013.11:g.110512096C>G	ESP,gnomAD
rs771057435	p.Ser1683Arg	missense variant	-	NC_000013.11:g.110512101C>A	ExAC,gnomAD
COSM3467243	p.Phe1684Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.110512104C>A	NCI-TCGA Cosmic
rs778961988	p.Gly1686Ser	missense variant	-	NC_000013.11:g.110512108G>A	ExAC,gnomAD
rs1326455391	p.Gly1686Asp	missense variant	-	NC_000013.11:g.110512109G>A	gnomAD
rs746110125	p.Ser1687Leu	missense variant	-	NC_000013.11:g.110512112C>T	ExAC,TOPMed,gnomAD
rs775870410	p.Pro1688Leu	missense variant	-	NC_000013.11:g.110512115C>T	ExAC,gnomAD
rs761162868	p.Ser1689Phe	missense variant	-	NC_000013.11:g.110512118C>T	ExAC,gnomAD
rs201105747	p.Ala1690Ser	missense variant	Hemorrhage, intracerebral, susceptibility to (ich)	NC_000013.11:g.110512120G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000022471	p.Ala1690Thr	missense variant	Hemorrhage, intracerebral, susceptibility to (ICH)	NC_000013.11:g.110512120G>A	ClinVar
rs201105747	p.Ala1690Thr	missense variant	Hemorrhage, intracerebral, susceptibility to (ich)	NC_000013.11:g.110512120G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201105747	p.Ala1690Thr	missense variant	-	NC_000013.11:g.110512120G>A	UniProt,dbSNP
VAR_067558	p.Ala1690Thr	missense variant	-	NC_000013.11:g.110512120G>A	UniProt
rs751211461	p.Asp1691Asn	missense variant	-	NC_000013.11:g.110512123G>A	ExAC,TOPMed,gnomAD
rs759315132	p.Thr1692Met	missense variant	-	NC_000013.11:g.110512127C>T	ExAC,TOPMed,gnomAD
rs759315132	p.Thr1692Arg	missense variant	-	NC_000013.11:g.110512127C>G	ExAC,TOPMed,gnomAD
rs1476309830	p.Lys1694Glu	missense variant	-	NC_000013.11:g.110512132A>G	gnomAD
rs1188934162	p.Lys1694Thr	missense variant	-	NC_000013.11:g.110512133A>C	gnomAD
rs202178258	p.Gly1696Ser	missense variant	-	NC_000013.11:g.110512138G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs746056606	p.Arg1699His	missense variant	-	NC_000013.11:g.110512148G>A	ExAC,gnomAD
rs779097251	p.Arg1699Cys	missense variant	-	NC_000013.11:g.110512147C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg1699Gly	missense variant	-	NC_000013.11:g.110512147C>G	NCI-TCGA
rs1295802932	p.His1701Leu	missense variant	-	NC_000013.11:g.110512154A>T	gnomAD
rs772344537	p.His1701Gln	missense variant	-	NC_000013.11:g.110512155C>A	ExAC,gnomAD
rs1414956363	p.Ile1702Val	missense variant	-	NC_000013.11:g.110512156A>G	gnomAD
rs1187912620	p.Ile1702Met	missense variant	-	NC_000013.11:g.110512158C>G	gnomAD
rs1414956363	p.Ile1702Phe	missense variant	-	NC_000013.11:g.110512156A>T	gnomAD
rs780380833	p.Arg1704Cys	missense variant	-	NC_000013.11:g.110512162C>T	ExAC,gnomAD
rs747313370	p.Arg1704Leu	missense variant	-	NC_000013.11:g.110512163G>T	ExAC,gnomAD
rs747313370	p.Arg1704His	missense variant	-	NC_000013.11:g.110512163G>A	ExAC,gnomAD
RCV000326433	p.Arg1704Leu	missense variant	Porencephalic cyst	NC_000013.11:g.110512163G>T	ClinVar
rs1318875867	p.Gln1706Ter	stop gained	-	NC_000013.11:g.110512168C>T	TOPMed
rs1280406576	p.ValCysMetLysAsnLeuTer1707ValUnk	stop lost	-	NC_000013.11:g.110512174_110512190del	TOPMed
rs1221898224	p.Val1707Glu	missense variant	-	NC_000013.11:g.110512172T>A	TOPMed
rs370681819	p.Met1709Val	missense variant	-	NC_000013.11:g.110512177A>G	ESP,ExAC,TOPMed,gnomAD
rs370681819	p.Met1709Leu	missense variant	-	NC_000013.11:g.110512177A>C	ESP,ExAC,TOPMed,gnomAD
rs1302375476	p.Met1709Ile	missense variant	-	NC_000013.11:g.110512179G>A	TOPMed
NCI-TCGA novel	p.Asn1711Ser	missense variant	-	NC_000013.11:g.110512184A>G	NCI-TCGA
rs1281691864	p.Leu1712Val	missense variant	-	NC_000013.11:g.110512186C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ter1713GlyGluUnkThrTerUnkUnk	stop lost	-	NC_000013.11:g.110512189T>G	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002736	Amyotrophic Lateral Sclerosis	disease	BEFREE
C0003886	Arthrogryposis	disease	GENOMICS_ENGLAND
C0005779	Blood Coagulation Disorders	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007222	Cardiovascular Diseases	group	BEFREE
C0007820	Cerebrovascular Disorders	group	BEFREE;GENOMICS_ENGLAND
C0010068	Coronary heart disease	disease	GWASCAT;GWASDB
C0014544	Epilepsy	disease	HPO
C0017661	IGA Glomerulonephritis	disease	LHGDN
C0018991	Hemiplegia	phenotype	HPO
C0022658	Kidney Diseases	group	BEFREE
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0025202	melanoma	disease	BEFREE
C0026838	Muscle Spasticity	phenotype	HPO
C0026848	Myopathy	group	BEFREE
C0027051	Myocardial Infarction	disease	BEFREE;GWASCAT;GWASDB
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027697	Nephritis	disease	BEFREE
C0027706	Hereditary nephritis	disease	LHGDN
C0027726	Nephrotic Syndrome	group	CTD_human
C0036572	Seizures	phenotype	HPO
C0038454	Cerebrovascular accident	group	BEFREE
C0042133	Uterine Fibroids	group	BEFREE
C0149925	Small cell carcinoma of lung	disease	CTD_human
C0151699	Intracranial Hemorrhages	group	HPO
C0151860	Acquired porencephaly	disease	BEFREE
C0221290	Chondromyxoid fibroma	disease	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0270612	Leukoencephalopathies	group	BEFREE
C0280100	Solid Neoplasm	phenotype	BEFREE
C0302892	Congenital porencephaly	disease	BEFREE;CTD_human
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0428883	Diastolic blood pressure	phenotype	GWASCAT
C0543888	Epileptic encephalopathy	disease	GENOMICS_ENGLAND
C0557874	Global developmental delay	disease	HPO
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0699743	Congenital muscular dystrophy (disorder)	disease	GENOMICS_ENGLAND
C0919267	ovarian neoplasm	disease	BEFREE
C0948008	Ischemic stroke	disease	BEFREE
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE
C1611184	Calcification of coronary artery	phenotype	GWASCAT;GWASDB
C1864897	Cognitive delay	phenotype	HPO
C1867983	PORENCEPHALY, FAMILIAL	disease	BEFREE;CTD_human;ORPHANET
C1956346	Coronary Artery Disease	disease	BEFREE;GWASCAT;GWASDB
C2733158	Cerebral Small Vessel Diseases	group	BEFREE
C2937358	Cerebral Hemorrhage	phenotype	CTD_human
C3278923	Dilated ventricles (finding)	phenotype	HPO
C3280970	PORENCEPHALY 2	disease	CLINVAR;UNIPROT
C3698507	Post-traumatic Porencephaly	phenotype	CTD_human
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C4020875	Mental and motor retardation	phenotype	HPO
C4082172	Porencephalic cyst	phenotype	HPO
C4082173	Porencephaly	disease	BEFREE;CTD_human
C4082301	Developmental Porencephaly	disease	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005201	extracellular matrix structural constituent	IBA
GO:0005201	extracellular matrix structural constituent	TAS
GO:0005515	protein binding	IPI
GO:0030020	extracellular matrix structural constituent conferring tensile strength	ISS
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA
GO:0030020	extracellular matrix structural constituent conferring tensile strength	HDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001525	angiogenesis	IEA
GO:0006351	transcription, DNA-templated	IEA
GO:0007568	aging	IEA
GO:0014823	response to activity	IEA
GO:0016525	negative regulation of angiogenesis	IDA
GO:0030198	extracellular matrix organization	IBA
GO:0030198	extracellular matrix organization	NAS
GO:0030198	extracellular matrix organization	TAS
GO:0035987	endodermal cell differentiation	IEP
GO:0038063	collagen-activated tyrosine kinase receptor signaling pathway	IBA
GO:0071560	cellular response to transforming growth factor beta stimulus	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005587	collagen type IV trimer	IBA
GO:0005587	collagen type IV trimer	TAS
GO:0005615	extracellular space	IBA
GO:0005788	endoplasmic reticulum lumen	TAS
GO:0031012	extracellular matrix	IBA
GO:0062023	collagen-containing extracellular matrix	HDA
GO:0070062	extracellular exosome	HDA
GO:0062023	collagen-containing extracellular matrix	ISS
GO:0062023	collagen-containing extracellular matrix	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1266738	Developmental Biology	TAS
R-HSA-1442490	Collagen degradation	TAS
R-HSA-1442490	Collagen degradation	IEA
R-HSA-1474228	Degradation of the extracellular matrix	TAS
R-HSA-1474228	Degradation of the extracellular matrix	IEA
R-HSA-1474244	Extracellular matrix organization	TAS
R-HSA-1474244	Extracellular matrix organization	IEA
R-HSA-1474290	Collagen formation	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-1650814	Collagen biosynthesis and modifying enzymes	TAS
R-HSA-186797	Signaling by PDGF	TAS
R-HSA-2022090	Assembly of collagen fibrils and other multimeric structures	TAS
R-HSA-216083	Integrin cell surface interactions	TAS
R-HSA-216083	Integrin cell surface interactions	IEA
R-HSA-2173782	Binding and Uptake of Ligands by Scavenger Receptors	IEA
R-HSA-2214320	Anchoring fibril formation	TAS
R-HSA-2243919	Crosslinking of collagen fibrils	TAS
R-HSA-3000157	Laminin interactions	IEA
R-HSA-3000157	Laminin interactions	TAS
R-HSA-3000171	Non-integrin membrane-ECM interactions	TAS
R-HSA-3000178	ECM proteoglycans	IEA
R-HSA-3000480	Scavenging by Class A Receptors	IEA
R-HSA-375165	NCAM signaling for neurite out-growth	TAS
R-HSA-419037	NCAM1 interactions	TAS
R-HSA-422475	Axon guidance	TAS
R-HSA-5653656	Vesicle-mediated transport	IEA
R-HSA-8948216	Collagen chain trimerization	TAS
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C026486	1,2,5,6-dibenzanthracene	1,2,5,6-dibenzanthracene results in increased expression of COL4A2 mRNA	26377693
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of COL4A2 mRNA	25380136
C093026	2,3,5,4'-tetrahydroxystilbene 2-O-glucopyranoside	2,3,5,4'-tetrahydroxystilbene 2-O-glucopyranoside inhibits the reaction [Doxorubicin results in increased expression of COL4A2 mRNA]	29064158
C078765	2,3,5-(triglutathion-S-yl)hydroquinone	2,3,5-(triglutathion-S-yl)hydroquinone results in decreased ADP-ribosylation of COL4A2 protein	31165168
C035208	2-amino-4,6-dinitrotoluene	2-amino-4,6-dinitrotoluene results in increased expression of COL4A2 protein	26251320
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of COL4A2 mRNA	25380136
C583074	4,4'-hexafluorisopropylidene diphenol	4,4'-hexafluorisopropylidene diphenol results in increased expression of COL4A2 mRNA	27567155
C002202	4-oxoretinoic acid	4-oxoretinoic acid results in increased expression of COL4A2 mRNA	17034753
C041819	4-oxoretinol	4-oxoretinol results in increased expression of COL4A2 mRNA	17034753
D000082	Acetaminophen	Acetaminophen results in increased expression of COL4A2 mRNA	29067470
D000082	Acetaminophen	Acetaminophen affects the expression of COL4A2 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of COL4A2 protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of COL4A2 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of COL4A2 intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of COL4A2 exon	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of COL4A2 mRNA	19770486
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of COL4A2 intron	30157460
D000077556	Alitretinoin	Alitretinoin results in increased expression of COL4A2 mRNA	17034753
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of COL4A2 mRNA	16483693
C004984	apocarotenal	apocarotenal results in decreased expression of COL4A2 mRNA	17034753
D001151	Arsenic	Arsenic affects the methylation of COL4A2 gene	25304211
D001241	Aspirin	Aspirin inhibits the reaction [AGT protein modified form results in increased expression of COL4A2 mRNA]	22306536
D001280	Atrazine	Atrazine results in increased expression of COL4A2 mRNA	22378314
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of COL4A2 mRNA	29950665
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of COL4A2 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of COL4A2 mRNA	20106945; 21632981;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of COL4A2 mRNA	19770486
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of COL4A2 mRNA	22610609
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of COL4A2 mRNA	22300585
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in increased expression of COL4A2 mRNA	26377693
C026487	benzo(e)pyrene	benzo(e)pyrene results in decreased methylation of COL4A2 intron	30157460
D019207	beta Carotene	beta Carotene results in decreased expression of COL4A2 mRNA	17034753
C044887	beta-methylcholine	beta-methylcholine affects the expression of COL4A2 mRNA	21179406
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of COL4A2 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of COL4A2 mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased expression of COL4A2 mRNA	29165653; 30951980;
C006780	bisphenol A	bisphenol A results in decreased expression of COL4A2 mRNA	25181051; 30816183;
C000611646	bisphenol F	[bisphenol F co-treated with Tretinoin] results in decreased expression of COL4A2 mRNA	30951980
C000611646	bisphenol F	bisphenol F results in increased expression of COL4A2 mRNA	30951980
D002104	Cadmium	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of COL4A2 mRNA	29741670
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of COL4A2 mRNA	12760830
D019256	Cadmium Chloride	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of COL4A2 mRNA	29741670
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of COL4A2 mRNA	12160620
D002117	Calcitriol	Calcitriol results in decreased expression of COL4A2 mRNA	12875902
D002220	Carbamazepine	Carbamazepine affects the expression of COL4A2 mRNA	25979313
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of COL4A2 mRNA	27339419
C074702	chromium hexavalent ion	chromium hexavalent ion results in decreased expression of COL4A2 mRNA	30690063
C019304	ciprofibrate	ciprofibrate results in increased expression of COL4A2 mRNA	12771043
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of COL4A2 mRNA	27392435
D002945	Cisplatin	[Cisplatin co-treated with Paclitaxel] results in decreased expression of COL4A2 mRNA	20705681
D002945	Cisplatin	Cisplatin results in decreased expression of COL4A2 mRNA	27392435
D002945	Cisplatin	[Cisplatin co-treated with RELB mutant form co-treated with TNF protein] results in increased expression of COL4A2 mRNA	23625948
D002990	Clobetasol	Clobetasol results in decreased expression of COL4A2 mRNA	27462272
D060729	Coal Ash	Coal Ash results in decreased expression of COL4A2 mRNA	19000753
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of COL4A2 mRNA	19376846
D019327	Copper Sulfate	Copper Sulfate results in increased expression of COL4A2 mRNA	19549813
D003474	Curcumin	Curcumin inhibits the reaction [Trinitrobenzenesulfonic Acid results in increased expression of COL4A2 mRNA]	18200517
D016572	Cyclosporine	Cyclosporine results in decreased expression of COL4A2 mRNA	20106945; 27989131;
D000069439	Dasatinib	Dasatinib results in increased expression of COL4A2 mRNA	20579391
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of COL4A2 mRNA]	27941970
D003907	Dexamethasone	Dexamethasone results in increased expression of COL4A2 mRNA	22733784
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of COL4A2 mRNA	29950665
C000944	dicrotophos	dicrotophos results in increased expression of COL4A2 mRNA	28302478
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of COL4A2 mRNA	31163220
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of COL4A2 mRNA	12771043
D004128	Dimethylnitrosamine	Dimethylnitrosamine results in increased expression of COL4A2 mRNA	25380136
D004237	Diuron	Diuron results in increased expression of COL4A2 mRNA	21551480
D004317	Doxorubicin	Doxorubicin results in decreased expression of COL4A2 mRNA	29803840
D004317	Doxorubicin	2,3,5,4'-tetrahydroxystilbene 2-O-glucopyranoside inhibits the reaction [Doxorubicin results in increased expression of COL4A2 mRNA]	29064158
D004317	Doxorubicin	Doxorubicin results in increased expression of COL4A2 mRNA	15033991; 29064158;
D004726	Endosulfan	Endosulfan results in decreased expression of COL4A2 mRNA	29391264
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of COL4A2 mRNA	30165855
D000431	Ethanol	Ethanol results in increased expression of COL4A2 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of COL4A2 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of COL4A2 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of COL4A2 mRNA	23300682
D005472	Fluorouracil	COL4A2 protein affects the susceptibility to Fluorouracil	15352031
D005472	Fluorouracil	Fluorouracil results in decreased expression of COL4A2 protein	15352031
C069837	fullerene C60	fullerene C60 results in increased expression of COL4A2 mRNA	19167457
D005947	Glucose	Glucose deficiency affects the secretion of COL4A2 protein	24802182
D007213	Indomethacin	Indomethacin results in decreased expression of COL4A2 mRNA	28201806
D015474	Isotretinoin	Isotretinoin results in increased expression of COL4A2 mRNA	20436886
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of COL4A2 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of COL4A2 mRNA	26752646
C073601	KT 5823	KT 5823 inhibits the reaction [NOC 18 results in increased expression of COL4A2 protein]	21307347
C073601	KT 5823	KT 5823 results in decreased expression of COL4A2 protein	21307347
D007854	Lead	Lead results in decreased expression of COL4A2 mRNA	19921347
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of COL4A2 mRNA	24972896
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of COL4A2 mRNA	27339419
D019808	Losartan	Losartan inhibits the reaction [AGT protein modified form results in increased expression of COL4A2 mRNA]	22306536
D008701	Methapyrilene	Methapyrilene results in decreased methylation of COL4A2 intron	30157460
C059539	midostaurin	midostaurin results in increased expression of COL4A2 mRNA	20980353
D016685	Mitomycin	COL4A2 protein affects the susceptibility to Mitomycin	16217747
D037742	Nanotubes, Carbon	Nanotubes, Carbon affects the expression of COL4A2 protein	21135415
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of COL4A2 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of COL4A2 mRNA	25554681
C028007	nickel monoxide	nickel monoxide results in increased expression of COL4A2 mRNA	19167457
C017557	nickel subsulfide	nickel subsulfide results in decreased expression of COL4A2 mRNA	12760830
C093285	NOC 18	COL4A2 protein affects the susceptibility to NOC 18	21307347
C093285	NOC 18	COL4A2 protein promotes the reaction [NOC 18 results in increased phosphorylation of PTK2 protein]	21307347
C093285	NOC 18	KT 5823 inhibits the reaction [NOC 18 results in increased expression of COL4A2 protein]	21307347
C093285	NOC 18	NOC 18 results in increased expression of COL4A2 protein	21307347
C093285	NOC 18	PRKG1 protein promotes the reaction [NOC 18 results in increased expression of COL4A2 protein]	21307347
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of COL4A2 mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in increased expression of COL4A2 mRNA	25729387
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of COL4A2 mRNA	30529165
D017239	Paclitaxel	[Cisplatin co-treated with Paclitaxel] results in decreased expression of COL4A2 mRNA	20705681
D017239	Paclitaxel	Paclitaxel results in increased expression of COL4A2 mRNA	19682730
C101814	perfluoro-n-undecanoic acid	perfluoro-n-undecanoic acid results in increased expression of COL4A2 mRNA	23602845
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of COL4A2 protein	26178269
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of COL4A2 mRNA	28511854
C058305	phenethyl isothiocyanate	phenethyl isothiocyanate results in decreased expression of COL4A2 mRNA	17616710
C006253	pirinixic acid	pirinixic acid results in increased expression of COL4A2 mRNA	23811191
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of COL4A2 mRNA	22714537
D012822	Silicon Dioxide	Silicon Dioxide results in increased expression of COL4A2 mRNA	29203145
D012834	Silver	Silver results in increased expression of COL4A2 mRNA	26014281
C017947	sodium arsenite	sodium arsenite results in decreased expression of COL4A2 mRNA	22714537
C016104	sodium bichromate	sodium bichromate results in decreased expression of COL4A2 mRNA	12760830
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of COL4A2 mRNA	31299295
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of COL4A2 mRNA	15336504
C004648	testosterone enanthate	testosterone enanthate affects the expression of COL4A2 mRNA	17440010
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of COL4A2 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of COL4A2 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of COL4A2 mRNA	24035824
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of COL4A2 mRNA	28922406
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of COL4A2 mRNA	29950665
C009495	titanium dioxide	titanium dioxide results in decreased expression of COL4A2 mRNA	23557971
C009495	titanium dioxide	titanium dioxide results in increased expression of COL4A2 mRNA	27760801; 29264374;
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of COL4A2 protein	30291989
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased methylation of COL4A2 promoter	31039056
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of COL4A2 mRNA	28111298
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of COL4A2 mRNA	29545142
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of COL4A2 protein	29545142
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of COL4A2 mRNA	25729387
D014212	Tretinoin	Tretinoin results in decreased expression of COL4A2 mRNA	12875902; 23724009;
D014212	Tretinoin	Tretinoin results in increased expression of COL4A2 mRNA	17034753
D014212	Tretinoin	[bisphenol F co-treated with Tretinoin] results in decreased expression of COL4A2 mRNA	30951980
D014212	Tretinoin	Tretinoin results in increased expression of COL4A2 mRNA	16604517
C015559	trimellitic anhydride	trimellitic anhydride results in increased expression of COL4A2 mRNA	19042947
D014302	Trinitrobenzenesulfonic Acid	Curcumin inhibits the reaction [Trinitrobenzenesulfonic Acid results in increased expression of COL4A2 mRNA]	18200517
D014302	Trinitrobenzenesulfonic Acid	Trinitrobenzenesulfonic Acid results in increased expression of COL4A2 mRNA	18200517
D000077288	Troglitazone	Troglitazone results in decreased expression of COL4A2 mRNA	28973697
D014635	Valproic Acid	Valproic Acid results in decreased expression of COL4A2 mRNA	28001369; 29154799;
D014635	Valproic Acid	Valproic Acid results in increased methylation of COL4A2 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the splicing of COL4A2 mRNA	29427782
D014635	Valproic Acid	Valproic Acid results in decreased expression of COL4A2 mRNA	29427782
D014640	Vancomycin	Vancomycin results in decreased expression of COL4A2 mRNA	18930951
C025643	vinclozolin	vinclozolin results in increased expression of COL4A2 mRNA	23034163
D014801	Vitamin A	Vitamin A results in increased expression of COL4A2 mRNA	17034753

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0037	Angiogenesis
KW-0084	Basement membrane
KW-0176	Collagen
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0272	Extracellular matrix
KW-0325	Glycoprotein
KW-0379	Hydroxylation
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR008160	Collagen
IPR001442	Collagen_IV_NC
IPR036954	Collagen_IV_NC_sf
IPR016187	CTDL_fold

PROSITE

PROSITE ID	PROSITE Term
PS51403	NC1_IV

Pfam

Pfam ID	Pfam Term
PF01413	C4
PF01391	Collagen

Gene: COL4A2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction