CleftGeneDB-Search

Gene: ITGB8

Basic information

Tag	Content
Uniprot ID	P26012; A4D133; B4DHD4;
Entrez ID	3696
Genbank protein ID	AAA36034.1; EAW93725.1; AAQ96845.1; EAL24275.1; BAG58095.1;
Genbank nucleotide ID	XM_017012183.1; XM_011515396.1; XM_017012180.1; XM_017012179.1; XM_017012182.1; XM_017012178.1; XM_017012181.1; NM_002214.2;
Ensembl protein ID	ENSP00000222573; ENSP00000441561;
Ensembl nucleotide ID	ENSG00000105855
Gene name	Integrin beta-8
Gene symbol	ITGB8
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Integrin alpha-V:beta-8 (ITGAV:ITGB8) is a receptor for fibronectin (PubMed:1918072). It recognizes the sequence R-G-D in its ligands (PubMed:1918072). Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth factor beta-1 (TGF-beta-1) from regulatory Latency-associated peptide (LAP), thereby playing a key role in TGF-beta-1 activation on the surface of activated regulatory T-cells (Tregs) (Probable). Required during vasculogenesis (By similarity).
Sequence	MCGSALAFFT AAFVCLQNDR RGPASFLWAA WVFSLVLGLG QGEDNRCASS NAASCARCLA 60 LGPECGWCVQ EDFISGGSRS ERCDIVSNLI SKGCSVDSIE YPSVHVIIPT ENEINTQVTP 120 GEVSIQLRPG AEANFMLKVH PLKKYPVDLY YLVDVSASMH NNIEKLNSVG NDLSRKMAFF 180 SRDFRLGFGS YVDKTVSPYI SIHPERIHNQ CSDYNLDCMP PHGYIHVLSL TENITEFEKA 240 VHRQKISGNI DTPEGGFDAM LQAAVCESHI GWRKEAKRLL LVMTDQTSHL ALDSKLAGIV 300 VPNDGNCHLK NNVYVKSTTM EHPSLGQLSE KLIDNNINVI FAVQGKQFHW YKDLLPLLPG 360 TIAGEIESKA ANLNNLVVEA YQKLISEVKV QVENQVQGIY FNITAICPDG SRKPGMEGCR 420 NVTSNDEVLF NVTVTMKKCD VTGGKNYAII KPIGFNETAK IHIHRNCSCQ CEDNRGPKGK 480 CVDETFLDSK CFQCDENKCH FDEDQFSSES CKSHKDQPVC SGRGVCVCGK CSCHKIKLGK 540 VYGKYCEKDD FSCPYHHGNL CAGHGECEAG RCQCFSGWEG DRCQCPSAAA QHCVNSKGQV 600 CSGRGTCVCG RCECTDPRSI GRFCEHCPTC YTACKENWNC MQCLHPHNLS QAILDQCKTS 660 CALMEQQHYV DQTSECFSSP SYLRIFFIIF IVTFLIGLLK VLIIRQVILQ WNSNKIKSSS 720 DYRVSASKKD KLILQSVCTR AVTYRREKPE EIKMDISKLN AHETFRCNF 769

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
6DJP
6OM1
6OM2
6UJA
6UJB
6UJC
6OM1

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	ITGB8	536286	F1MVW3		Bos taurus	Prediction	More>>
1:1 ortholog	ITGB8	475253	F6X717		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ITGB8	102191301	A0A452F9L9		Capra hircus	Prediction	More>>
1:1 ortholog	ITGB8	100053462	F7BLS7		Equus caballus	Prediction	More>>
1:1 ortholog	ITGB8	3696	P26012		Homo sapiens	Prediction	More>>
1:1 ortholog	Itgb8	320910	Q0VBD0	CPO	Mus musculus	Publication	More>>
1:1 ortholog			A0A4X1TCF4		Sus scrofa	Prediction	More>>
1:1 ortholog	ITGB8	100009141	P26013		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Itgb8	362800	A0A0G2JVU1		Rattus norvegicus	Prediction	More>>
1:1 ortholog	itgb8		F1QN46		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1335251881	p.Cys2Gly	missense variant	-	NC_000007.14:g.20331810T>G	gnomAD
rs760731578	p.Gly3Cys	missense variant	-	NC_000007.14:g.20331813G>T	ExAC,TOPMed,gnomAD
rs760731578	p.Gly3Arg	missense variant	-	NC_000007.14:g.20331813G>C	ExAC,TOPMed,gnomAD
rs760731578	p.Gly3Ser	missense variant	-	NC_000007.14:g.20331813G>A	ExAC,TOPMed,gnomAD
rs766864266	p.Ser4Leu	missense variant	-	NC_000007.14:g.20331817C>T	ExAC,gnomAD
rs759866167	p.Ala5Pro	missense variant	-	NC_000007.14:g.20331819G>C	ExAC,gnomAD
rs947046008	p.Ala7Thr	missense variant	-	NC_000007.14:g.20331825G>A	gnomAD
rs765588213	p.Phe8Val	missense variant	-	NC_000007.14:g.20331828T>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe9LeuPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.20331827T>-	NCI-TCGA
rs1291693476	p.Phe9Tyr	missense variant	-	NC_000007.14:g.20331832T>A	TOPMed
rs760028800	p.Thr10TyrPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.20331826_20331827insT	NCI-TCGA,NCI-TCGA Cosmic
rs377149985	p.Ala11Ser	missense variant	-	NC_000007.14:g.20331837G>T	ESP,ExAC,TOPMed,gnomAD
rs751170356	p.Val14Ala	missense variant	-	NC_000007.14:g.20331847T>C	ExAC,gnomAD
rs1440721447	p.Val14Ile	missense variant	-	NC_000007.14:g.20331846G>A	TOPMed
rs1330014152	p.Cys15Tyr	missense variant	-	NC_000007.14:g.20331850G>A	TOPMed
rs1358724377	p.Leu16Pro	missense variant	-	NC_000007.14:g.20331853T>C	gnomAD
rs1358724377	p.Leu16Arg	missense variant	-	NC_000007.14:g.20331853T>G	gnomAD
rs571285259	p.Gln17Pro	missense variant	-	NC_000007.14:g.20331856A>C	1000Genomes,ExAC,gnomAD
rs781042261	p.Asp19Glu	missense variant	-	NC_000007.14:g.20331863C>G	ExAC,gnomAD
rs755261315	p.Asp19Tyr	missense variant	-	NC_000007.14:g.20331861G>T	TOPMed
rs1384689572	p.Arg20Trp	missense variant	-	NC_000007.14:g.20331864C>T	gnomAD
rs745772377	p.Arg20Gln	missense variant	-	NC_000007.14:g.20331865G>A	ExAC,TOPMed,gnomAD
rs755896757	p.Arg21Gly	missense variant	-	NC_000007.14:g.20331867C>G	ExAC,gnomAD
rs1166654295	p.Arg21Leu	missense variant	-	NC_000007.14:g.20331868G>T	TOPMed
rs779835689	p.Gly22Asp	missense variant	-	NC_000007.14:g.20331871G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro23Leu	missense variant	-	NC_000007.14:g.20331874C>T	NCI-TCGA
rs1284338582	p.Pro23Ser	missense variant	-	NC_000007.14:g.20331873C>T	gnomAD
rs747133643	p.Ser25Leu	missense variant	-	NC_000007.14:g.20331880C>T	ExAC,gnomAD
rs777025484	p.Phe26Leu	missense variant	-	NC_000007.14:g.20331884C>A	ExAC,gnomAD
rs760047206	p.Leu27Pro	missense variant	-	NC_000007.14:g.20331886T>C	ExAC,gnomAD
rs1471278876	p.Trp28Ter	stop gained	-	NC_000007.14:g.20331890G>A	gnomAD
rs934084295	p.Ala30Val	missense variant	-	NC_000007.14:g.20331895C>T	TOPMed,gnomAD
rs1178721432	p.Trp31Arg	missense variant	-	NC_000007.14:g.20331897T>C	gnomAD
rs1453299245	p.Phe33Leu	missense variant	-	NC_000007.14:g.20331905T>G	gnomAD
rs1333830210	p.Leu35Val	missense variant	-	NC_000007.14:g.20331909C>G	gnomAD
rs952679336	p.Leu37Pro	missense variant	-	NC_000007.14:g.20331916T>C	TOPMed
NCI-TCGA novel	p.Leu37Phe	missense variant	-	NC_000007.14:g.20331915C>T	NCI-TCGA
rs758903592	p.Leu37Val	missense variant	-	NC_000007.14:g.20331915C>G	ExAC,gnomAD
rs756743474	p.Gly38Glu	missense variant	-	NC_000007.14:g.20331919G>A	ExAC,TOPMed,gnomAD
rs750337028	p.Leu39Pro	missense variant	-	NC_000007.14:g.20331922T>C	ExAC,TOPMed,gnomAD
rs1169982777	p.Gly40Asp	missense variant	-	NC_000007.14:g.20331925G>A	TOPMed
rs1169982777	p.Gly40Ala	missense variant	-	NC_000007.14:g.20331925G>C	TOPMed
rs1023838873	p.Gln41Arg	missense variant	-	NC_000007.14:g.20331928A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gly42Cys	missense variant	-	NC_000007.14:g.20331930G>T	NCI-TCGA
COSM3374591	p.Glu43Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20363637A>C	NCI-TCGA Cosmic
rs1439972744	p.Glu43Lys	missense variant	-	NC_000007.14:g.20331933G>A	gnomAD
rs1231060338	p.Asn45Asp	missense variant	-	NC_000007.14:g.20363642A>G	TOPMed
rs760099409	p.Cys47Tyr	missense variant	-	NC_000007.14:g.20363649G>A	ExAC,gnomAD
rs1371226879	p.Ala48Thr	missense variant	-	NC_000007.14:g.20363651G>A	gnomAD
rs753755639	p.Ser49Thr	missense variant	-	NC_000007.14:g.20363654T>A	ExAC,TOPMed,gnomAD
rs1364805487	p.Ser50Leu	missense variant	-	NC_000007.14:g.20363658C>T	gnomAD
rs778638265	p.Ser54Cys	missense variant	-	NC_000007.14:g.20363670C>G	ExAC
NCI-TCGA novel	p.Cys55Phe	missense variant	-	NC_000007.14:g.20363673G>T	NCI-TCGA
rs1213374677	p.Ala56Gly	missense variant	-	NC_000007.14:g.20363676C>G	TOPMed
COSM745561	p.Ala56Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20363675G>A	NCI-TCGA Cosmic
rs1304635518	p.Arg57Trp	missense variant	-	NC_000007.14:g.20363678A>T	TOPMed,gnomAD
rs376774573	p.Arg57Lys	missense variant	-	NC_000007.14:g.20363679G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781253213	p.Arg57Ser	missense variant	-	NC_000007.14:g.20363680G>T	ExAC,gnomAD
rs376774573	p.Arg57Met	missense variant	-	NC_000007.14:g.20363679G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1050009528	p.Leu59Val	missense variant	-	NC_000007.14:g.20363684C>G	TOPMed,gnomAD
rs1050009528	p.Leu59Phe	missense variant	-	NC_000007.14:g.20363684C>T	TOPMed,gnomAD
rs571679699	p.Ala60Glu	missense variant	-	NC_000007.14:g.20363688C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs571679699	p.Ala60Val	missense variant	-	NC_000007.14:g.20363688C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1228794906	p.Leu61Met	missense variant	-	NC_000007.14:g.20363690C>A	gnomAD
rs202110087	p.Gly62Arg	missense variant	-	NC_000007.14:g.20363693G>C	TOPMed
rs1325615146	p.Pro63Leu	missense variant	-	NC_000007.14:g.20363697C>T	TOPMed
rs1433915572	p.Cys65Ser	missense variant	-	NC_000007.14:g.20363702T>A	TOPMed
rs1433915572	p.Cys65Arg	missense variant	-	NC_000007.14:g.20363702T>C	TOPMed
NCI-TCGA novel	p.Trp67Ter	stop gained	-	NC_000007.14:g.20363710G>A	NCI-TCGA
rs1164896689	p.Val69Ile	missense variant	-	NC_000007.14:g.20363714G>A	TOPMed
COSM3637142	p.Gln70Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.20363717C>T	NCI-TCGA Cosmic
rs1292827901	p.Glu71Val	missense variant	-	NC_000007.14:g.20363721A>T	gnomAD
NCI-TCGA novel	p.Glu71Gln	missense variant	-	NC_000007.14:g.20363720G>C	NCI-TCGA
rs367941451	p.Asp72Asn	missense variant	-	NC_000007.14:g.20367012G>A	ESP,ExAC,TOPMed,gnomAD
rs367941451	p.Asp72His	missense variant	-	NC_000007.14:g.20367012G>C	ESP,ExAC,TOPMed,gnomAD
rs1457346592	p.Asp72Gly	missense variant	-	NC_000007.14:g.20367013A>G	TOPMed,gnomAD
COSM3637144	p.Phe73Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20367015T>C	NCI-TCGA Cosmic
rs772942592	p.Ser75Leu	missense variant	-	NC_000007.14:g.20367022C>T	ExAC,gnomAD
rs376359729	p.Gly76Asp	missense variant	-	NC_000007.14:g.20367025G>A	ESP,ExAC,TOPMed,gnomAD
rs1043847616	p.Gly76Ser	missense variant	-	NC_000007.14:g.20367024G>A	TOPMed
rs770431158	p.Gly77Glu	missense variant	-	NC_000007.14:g.20367028G>A	ExAC,gnomAD
rs199664019	p.Ser78Pro	missense variant	-	NC_000007.14:g.20367030T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs759033015	p.Ser80Arg	missense variant	-	NC_000007.14:g.20367036A>C	ExAC,gnomAD
rs1034995435	p.Glu81Lys	missense variant	-	NC_000007.14:g.20367039G>A	TOPMed,gnomAD
rs369597972	p.Arg82His	missense variant	-	NC_000007.14:g.20367043G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765221616	p.Arg82Cys	missense variant	-	NC_000007.14:g.20367042C>T	ExAC,gnomAD
rs762853356	p.Cys83Arg	missense variant	-	NC_000007.14:g.20367045T>C	ExAC,gnomAD
rs372543006	p.Asp84His	missense variant	-	NC_000007.14:g.20367048G>C	ESP,ExAC,TOPMed,gnomAD
rs1205552822	p.Ile85Thr	missense variant	-	NC_000007.14:g.20367052T>C	gnomAD
rs756350539	p.Gly93Ser	missense variant	-	NC_000007.14:g.20367075G>A	ExAC,gnomAD
rs1252177451	p.Gly93Ala	missense variant	-	NC_000007.14:g.20367076G>C	gnomAD
rs1252177451	p.Gly93Val	missense variant	-	NC_000007.14:g.20367076G>T	gnomAD
rs754038318	p.Ile99Val	missense variant	-	NC_000007.14:g.20367093A>G	ExAC,gnomAD
rs989667857	p.Ile99Thr	missense variant	-	NC_000007.14:g.20367094T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser103Tyr	missense variant	-	NC_000007.14:g.20367106C>A	NCI-TCGA
COSM3880021	p.His105Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20367112A>G	NCI-TCGA Cosmic
rs1289002764	p.Val106Ala	missense variant	-	NC_000007.14:g.20367115T>C	gnomAD
rs748557267	p.Val106Leu	missense variant	-	NC_000007.14:g.20367114G>C	ExAC,gnomAD
rs142166758	p.Ile107Leu	missense variant	-	NC_000007.14:g.20367117A>T	ESP,ExAC,TOPMed,gnomAD
rs746674277	p.Pro109His	missense variant	-	NC_000007.14:g.20367124C>A	ExAC,gnomAD
rs1351281518	p.Thr110Ile	missense variant	-	NC_000007.14:g.20367127C>T	gnomAD
rs146738968	p.Glu111Asp	missense variant	-	NC_000007.14:g.20367131A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs984897602	p.Asn112Lys	missense variant	-	NC_000007.14:g.20367134T>G	TOPMed,gnomAD
rs776261602	p.Glu113Asp	missense variant	-	NC_000007.14:g.20367137A>C	ExAC,gnomAD
rs745422214	p.Thr116Ala	missense variant	-	NC_000007.14:g.20367144A>G	ExAC,TOPMed,gnomAD
rs146348394	p.Val118Leu	missense variant	-	NC_000007.14:g.20367150G>C	ESP,ExAC,TOPMed,gnomAD
rs146348394	p.Val118Met	missense variant	-	NC_000007.14:g.20367150G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val118Ala	missense variant	-	NC_000007.14:g.20367151T>C	NCI-TCGA
rs146348394	p.Val118Leu	missense variant	-	NC_000007.14:g.20367150G>T	ESP,ExAC,TOPMed,gnomAD
rs762734819	p.Thr119Ile	missense variant	-	NC_000007.14:g.20367154C>T	ExAC
rs763965287	p.Gly121Arg	missense variant	-	NC_000007.14:g.20367159G>C	ExAC,TOPMed
rs763965287	p.Gly121Arg	missense variant	-	NC_000007.14:g.20367159G>A	ExAC,TOPMed
rs774346527	p.Glu122Gly	missense variant	-	NC_000007.14:g.20367163A>G	ExAC,TOPMed
rs761695849	p.Val123Met	missense variant	-	NC_000007.14:g.20367165G>A	ExAC,TOPMed,gnomAD
rs761695849	p.Val123Leu	missense variant	-	NC_000007.14:g.20367165G>C	ExAC,TOPMed,gnomAD
rs1358523631	p.Ile125Thr	missense variant	-	NC_000007.14:g.20367172T>C	TOPMed
rs373295993	p.Ile125Val	missense variant	-	NC_000007.14:g.20367171A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373295993	p.Ile125Leu	missense variant	-	NC_000007.14:g.20367171A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1221355611	p.Leu127Pro	missense variant	-	NC_000007.14:g.20367178T>C	gnomAD
NCI-TCGA novel	p.Arg128Leu	missense variant	-	NC_000007.14:g.20367181G>T	NCI-TCGA
rs139414321	p.Arg128His	missense variant	-	NC_000007.14:g.20367181G>A	ESP,ExAC,TOPMed,gnomAD
rs993855222	p.Arg128Cys	missense variant	-	NC_000007.14:g.20367180C>T	TOPMed,gnomAD
rs758770661	p.Gly130Arg	missense variant	-	NC_000007.14:g.20367186G>C	ExAC,gnomAD
rs1012429237	p.Ala131Val	missense variant	-	NC_000007.14:g.20379054C>T	gnomAD
rs1012429237	p.Ala131Gly	missense variant	-	NC_000007.14:g.20379054C>G	gnomAD
rs777027981	p.Glu132Lys	missense variant	-	NC_000007.14:g.20379056G>A	ExAC,TOPMed,gnomAD
rs759608538	p.Ala133Gly	missense variant	-	NC_000007.14:g.20379060C>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe135LeuPheSerTerUnk	frameshift	-	NC_000007.14:g.20379064T>-	NCI-TCGA
rs765369722	p.Met136Arg	missense variant	-	NC_000007.14:g.20379069T>G	ExAC,gnomAD
rs374723970	p.Met136Ile	missense variant	-	NC_000007.14:g.20379070G>C	ESP,ExAC,gnomAD
rs374723970	p.Met136Ile	missense variant	-	NC_000007.14:g.20379070G>A	ESP,ExAC,gnomAD
rs763080294	p.Lys138Gln	missense variant	-	NC_000007.14:g.20379074A>C	ExAC,TOPMed,gnomAD
rs764549421	p.Val139Ile	missense variant	-	NC_000007.14:g.20379077G>A	ExAC,gnomAD
COSM4493619	p.His140Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20379080C>T	NCI-TCGA Cosmic
rs1035440608	p.Pro141His	missense variant	-	NC_000007.14:g.20379084C>A	TOPMed,gnomAD
rs757639450	p.Lys143Glu	missense variant	-	NC_000007.14:g.20379089A>G	ExAC,gnomAD
rs1218527045	p.Lys143Asn	missense variant	-	NC_000007.14:g.20379091G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Lys144Glu	missense variant	-	NC_000007.14:g.20379092A>G	NCI-TCGA
NCI-TCGA novel	p.Lys144Gln	missense variant	-	NC_000007.14:g.20379092A>C	NCI-TCGA
rs1249150331	p.Tyr145His	missense variant	-	NC_000007.14:g.20379095T>C	gnomAD
rs1245360765	p.Pro146Leu	missense variant	-	NC_000007.14:g.20379099C>T	gnomAD
rs781494418	p.Pro146Ser	missense variant	-	NC_000007.14:g.20379098C>T	ExAC,gnomAD
rs1473246785	p.Val147Met	missense variant	-	NC_000007.14:g.20379101G>A	gnomAD
rs755782140	p.Leu149Phe	missense variant	-	NC_000007.14:g.20379107C>T	ExAC,gnomAD
rs144386896	p.Tyr151Asn	missense variant	-	NC_000007.14:g.20379113T>A	ESP,TOPMed
rs148724162	p.Val153Ile	missense variant	-	NC_000007.14:g.20379119G>A	ESP
COSM1088262	p.Ala157Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20379131G>A	NCI-TCGA Cosmic
COSM3637150	p.Ser158Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20379135C>T	NCI-TCGA Cosmic
COSM3431468	p.Asn162His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20379146A>C	NCI-TCGA Cosmic
rs1351096129	p.Asn162Asp	missense variant	-	NC_000007.14:g.20379146A>G	TOPMed
rs779753687	p.Ile163Val	missense variant	-	NC_000007.14:g.20379149A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu164Lys	missense variant	-	NC_000007.14:g.20379152G>A	NCI-TCGA
NCI-TCGA novel	p.Val169Gly	missense variant	-	NC_000007.14:g.20379168T>G	NCI-TCGA
rs779020009	p.Val169Asp	missense variant	-	NC_000007.14:g.20379168T>A	ExAC,TOPMed,gnomAD
rs779020009	p.Val169Ala	missense variant	-	NC_000007.14:g.20379168T>C	ExAC,TOPMed,gnomAD
rs768194871	p.Val169Ile	missense variant	-	NC_000007.14:g.20379167G>A	ExAC,TOPMed,gnomAD
rs1480929101	p.Gly170Arg	missense variant	-	NC_000007.14:g.20379170G>A	gnomAD
rs142263323	p.Gly170Ala	missense variant	-	NC_000007.14:g.20379171G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs985382525	p.Asn171His	missense variant	-	NC_000007.14:g.20379173A>C	gnomAD
NCI-TCGA novel	p.Asp172Tyr	missense variant	-	NC_000007.14:g.20379176G>T	NCI-TCGA
rs943883720	p.Asp172Asn	missense variant	-	NC_000007.14:g.20379176G>A	TOPMed,gnomAD
COSM4929057	p.Arg175Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20379187A>T	NCI-TCGA Cosmic
rs1229651452	p.Arg175Ile	missense variant	-	NC_000007.14:g.20379186G>T	gnomAD
NCI-TCGA novel	p.Phe180SerPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.20379197T>-	NCI-TCGA
rs1268230152	p.Phe180Val	missense variant	-	NC_000007.14:g.20379200T>G	gnomAD
rs147908281	p.Arg182Gly	missense variant	-	NC_000007.14:g.20379206C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762991609	p.Arg182His	missense variant	-	NC_000007.14:g.20379207G>A	ExAC,TOPMed,gnomAD
rs147908281	p.Arg182Cys	missense variant	-	NC_000007.14:g.20379206C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs267601448	p.Arg185Cys	missense variant	-	NC_000007.14:g.20379215C>T	ExAC,gnomAD
rs762238509	p.Arg185His	missense variant	-	NC_000007.14:g.20379216G>A	ExAC,TOPMed,gnomAD
rs762238509	p.Arg185Leu	missense variant	-	NC_000007.14:g.20379216G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly189Val	missense variant	-	NC_000007.14:g.20379228G>T	NCI-TCGA
rs563245593	p.Tyr191His	missense variant	-	NC_000007.14:g.20379233T>C	1000Genomes
COSM3832465	p.Val192Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20379237T>C	NCI-TCGA Cosmic
COSM1088268	p.Ser201Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20379264G>T	NCI-TCGA Cosmic
rs750820206	p.His203Gln	missense variant	-	NC_000007.14:g.20379271C>A	ExAC,gnomAD
rs1273987083	p.Glu205Lys	missense variant	-	NC_000007.14:g.20379275G>A	-
NCI-TCGA novel	p.Arg206Met	missense variant	-	NC_000007.14:g.20379279G>T	NCI-TCGA
COSM3637154	p.Arg206Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20379279G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn209Thr	missense variant	-	NC_000007.14:g.20379288A>C	NCI-TCGA
rs1402499859	p.Asp213Gly	missense variant	-	NC_000007.14:g.20380668A>G	gnomAD
COSM3411897	p.Asn215Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20380673A>G	NCI-TCGA Cosmic
COSM3880023	p.Asn215His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20380673A>C	NCI-TCGA Cosmic
rs1332113756	p.Asn215Ser	missense variant	-	NC_000007.14:g.20380674A>G	gnomAD
rs1227422073	p.Asp217Asn	missense variant	-	NC_000007.14:g.20380679G>A	gnomAD
NCI-TCGA novel	p.Cys218Ser	missense variant	-	NC_000007.14:g.20380683G>C	NCI-TCGA
rs774473745	p.Met219Leu	missense variant	-	NC_000007.14:g.20380685A>C	ExAC,gnomAD
rs761878183	p.Met219Ile	missense variant	-	NC_000007.14:g.20380687G>A	ExAC,TOPMed,gnomAD
rs768053112	p.Pro220Arg	missense variant	-	NC_000007.14:g.20380689C>G	ExAC,TOPMed,gnomAD
rs768053112	p.Pro220Leu	missense variant	-	NC_000007.14:g.20380689C>T	ExAC,TOPMed,gnomAD
COSM3307579	p.Pro221Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20380691C>T	NCI-TCGA Cosmic
rs1291267468	p.Gly223Glu	missense variant	-	NC_000007.14:g.20380698G>A	gnomAD
rs1489928691	p.Tyr224His	missense variant	-	NC_000007.14:g.20380700T>C	gnomAD
rs200991047	p.Ile225Leu	missense variant	-	NC_000007.14:g.20380703A>C	ExAC,TOPMed,gnomAD
rs1268157375	p.Ile225Asn	missense variant	-	NC_000007.14:g.20380704T>A	gnomAD
rs760973255	p.Ile225Met	missense variant	-	NC_000007.14:g.20380705C>G	ExAC,gnomAD
COSM3637158	p.His226Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20380706C>T	NCI-TCGA Cosmic
rs1216185478	p.His226Asn	missense variant	-	NC_000007.14:g.20380706C>A	TOPMed
rs766729168	p.Val227Met	missense variant	-	NC_000007.14:g.20380709G>A	ExAC,gnomAD
rs147814088	p.Thr231Ser	missense variant	-	NC_000007.14:g.20380721A>T	ESP,ExAC,TOPMed,gnomAD
rs1355869654	p.Thr235Asn	missense variant	-	NC_000007.14:g.20380734C>A	TOPMed,gnomAD
rs370739263	p.Glu238Asp	missense variant	-	NC_000007.14:g.20380744G>C	ESP,ExAC,gnomAD
rs1451144496	p.Glu238Gly	missense variant	-	NC_000007.14:g.20380743A>G	gnomAD
rs1016504726	p.Lys239Glu	missense variant	-	NC_000007.14:g.20380745A>G	TOPMed
NCI-TCGA novel	p.Arg243Ser	missense variant	-	NC_000007.14:g.20380759A>C	NCI-TCGA
NCI-TCGA novel	p.Ser247Tyr	missense variant	-	NC_000007.14:g.20380770C>A	NCI-TCGA
rs374405070	p.Ile250Leu	missense variant	-	NC_000007.14:g.20380778A>C	ESP,ExAC,gnomAD
rs1225819910	p.Gly256Ser	missense variant	-	NC_000007.14:g.20380796G>A	TOPMed
rs1346554251	p.Asp258Gly	missense variant	-	NC_000007.14:g.20380803A>G	TOPMed
NCI-TCGA novel	p.Ala259Thr	missense variant	-	NC_000007.14:g.20380805G>A	NCI-TCGA
NCI-TCGA novel	p.Ala259ProPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.20380805G>-	NCI-TCGA
rs202048761	p.Met260Thr	missense variant	-	NC_000007.14:g.20380809T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs780972981	p.Gln262Glu	missense variant	-	NC_000007.14:g.20380814C>G	ExAC,gnomAD
rs749484137	p.Glu267Gly	missense variant	-	NC_000007.14:g.20380830A>G	ExAC,gnomAD
rs768936255	p.Glu267Asp	missense variant	-	NC_000007.14:g.20380831A>C	ExAC,gnomAD
rs1270096990	p.Ser268Asn	missense variant	-	NC_000007.14:g.20381728G>A	TOPMed,gnomAD
rs780988930	p.His269Tyr	missense variant	-	NC_000007.14:g.20381730C>T	ExAC,TOPMed,gnomAD
rs558349898	p.His269Arg	missense variant	-	NC_000007.14:g.20381731A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1262252016	p.Ile270Leu	missense variant	-	NC_000007.14:g.20381733A>C	gnomAD
rs1256359394	p.Gly271Val	missense variant	-	NC_000007.14:g.20381737G>T	gnomAD
rs1256359394	p.Gly271Ala	missense variant	-	NC_000007.14:g.20381737G>C	gnomAD
COSM3880025	p.Gly271Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20381736G>C	NCI-TCGA Cosmic
rs373968311	p.Gly271Arg	missense variant	-	NC_000007.14:g.20381736G>A	ESP,ExAC,TOPMed,gnomAD
rs1413621738	p.Trp272Cys	missense variant	-	NC_000007.14:g.20381741G>C	gnomAD
NCI-TCGA novel	p.Arg273Ter	stop gained	-	NC_000007.14:g.20381742C>T	NCI-TCGA
rs140287178	p.Arg273Gly	missense variant	-	NC_000007.14:g.20381742C>G	ESP,ExAC
rs777853575	p.Arg273Gln	missense variant	-	NC_000007.14:g.20381743G>A	ExAC,gnomAD
rs771531947	p.Glu275Lys	missense variant	-	NC_000007.14:g.20381748G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu275Ter	stop gained	-	NC_000007.14:g.20381748G>T	NCI-TCGA
rs771531947	p.Glu275Gln	missense variant	-	NC_000007.14:g.20381748G>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys277Ter	stop gained	-	NC_000007.14:g.20381754A>T	NCI-TCGA
COSM1088274	p.Arg278Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20381758G>T	NCI-TCGA Cosmic
rs1395958493	p.Val282Leu	missense variant	-	NC_000007.14:g.20381769G>T	gnomAD
rs760023104	p.Met283Ile	missense variant	-	NC_000007.14:g.20381774G>A	ExAC,gnomAD
rs1389953179	p.Met283Thr	missense variant	-	NC_000007.14:g.20381773T>C	gnomAD
rs1228896793	p.Asp285Glu	missense variant	-	NC_000007.14:g.20381780T>A	gnomAD
rs775311931	p.Thr287Met	missense variant	-	NC_000007.14:g.20381785C>T	ExAC,gnomAD
rs977987906	p.Ala291Thr	missense variant	-	NC_000007.14:g.20381796G>A	-
rs1185988808	p.Leu292Phe	missense variant	-	NC_000007.14:g.20381799C>T	TOPMed
NCI-TCGA novel	p.Leu292Val	missense variant	-	NC_000007.14:g.20381799C>G	NCI-TCGA
NCI-TCGA novel	p.Leu292Ile	missense variant	-	NC_000007.14:g.20381799C>A	NCI-TCGA
rs1443454033	p.Ser294Ile	missense variant	-	NC_000007.14:g.20381806G>T	TOPMed
rs573500863	p.Ala297Ser	missense variant	-	NC_000007.14:g.20381814G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs761198562	p.Ala297Gly	missense variant	-	NC_000007.14:g.20381815C>G	ExAC,gnomAD
rs1253318347	p.Ile299Leu	missense variant	-	NC_000007.14:g.20381820A>C	gnomAD
rs372329277	p.Ile299Thr	missense variant	-	NC_000007.14:g.20381821T>C	ESP
rs1472657201	p.Asn303Thr	missense variant	-	NC_000007.14:g.20381833A>C	gnomAD
rs750312968	p.Gly305Ala	missense variant	-	NC_000007.14:g.20381839G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly305Arg	missense variant	-	NC_000007.14:g.20381838G>A	NCI-TCGA
rs750312968	p.Gly305Glu	missense variant	-	NC_000007.14:g.20381839G>A	ExAC,gnomAD
rs1177237841	p.Cys307Arg	missense variant	-	NC_000007.14:g.20381844T>C	gnomAD
rs752932121	p.Leu309Met	missense variant	-	NC_000007.14:g.20381850C>A	ExAC,TOPMed,gnomAD
rs1356666582	p.Asn311Ser	missense variant	-	NC_000007.14:g.20381857A>G	TOPMed
rs750762159	p.Val313Phe	missense variant	-	NC_000007.14:g.20381862G>T	ExAC,TOPMed,gnomAD
rs750762159	p.Val313Ile	missense variant	-	NC_000007.14:g.20381862G>A	ExAC,TOPMed,gnomAD
rs2230398	p.Tyr314Ter	stop gained	-	NC_000007.14:g.20381867T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2230398	p.Tyr314Ter	stop gained	-	NC_000007.14:g.20381867T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1353670408	p.Val315Ile	missense variant	-	NC_000007.14:g.20381868G>A	TOPMed,gnomAD
rs202112669	p.Met320Thr	missense variant	-	NC_000007.14:g.20381884T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs774084785	p.His322Tyr	missense variant	-	NC_000007.14:g.20391406C>T	ExAC,gnomAD
rs747692264	p.Gly326Ser	missense variant	-	NC_000007.14:g.20391418G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu328Val	missense variant	-	NC_000007.14:g.20391424C>G	NCI-TCGA
rs752386964	p.Glu330Val	missense variant	-	NC_000007.14:g.20391431A>T	ExAC,gnomAD
rs1444224298	p.Glu330Lys	missense variant	-	NC_000007.14:g.20391430G>A	gnomAD
COSM6109815	p.Glu330Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.20391430G>T	NCI-TCGA Cosmic
COSM1088277	p.Glu330Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20391432G>T	NCI-TCGA Cosmic
rs752386964	p.Glu330Gly	missense variant	-	NC_000007.14:g.20391431A>G	ExAC,gnomAD
rs776525686	p.Ile333Thr	missense variant	-	NC_000007.14:g.20391440T>C	ExAC,TOPMed,gnomAD
COSM452826	p.Asp334Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20391443A>G	NCI-TCGA Cosmic
COSM3431470	p.Asp334Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20391442G>T	NCI-TCGA Cosmic
rs759393602	p.Asn336Lys	missense variant	-	NC_000007.14:g.20391450C>A	ExAC,TOPMed,gnomAD
rs1376354774	p.Ile337Thr	missense variant	-	NC_000007.14:g.20391452T>C	TOPMed
rs1460420542	p.Ala342Val	missense variant	-	NC_000007.14:g.20391467C>T	gnomAD
rs1182424227	p.Val343Ile	missense variant	-	NC_000007.14:g.20391469G>A	gnomAD
COSM3637164	p.Gly345Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20391476G>A	NCI-TCGA Cosmic
rs1385264694	p.Gly345Arg	missense variant	-	NC_000007.14:g.20391475G>A	gnomAD
rs1387744007	p.Lys346Arg	missense variant	-	NC_000007.14:g.20391479A>G	gnomAD
rs1455583671	p.Gln347Arg	missense variant	-	NC_000007.14:g.20391482A>G	gnomAD
rs1454481851	p.His349Tyr	missense variant	-	NC_000007.14:g.20391487C>T	TOPMed
COSM3637168	p.Asp353Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20394896G>A	NCI-TCGA Cosmic
rs1184584459	p.Asp353Val	missense variant	-	NC_000007.14:g.20394897A>T	TOPMed
rs138593316	p.Pro356Thr	missense variant	-	NC_000007.14:g.20394905C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138593316	p.Pro356Ser	missense variant	-	NC_000007.14:g.20394905C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1471555689	p.Leu357Phe	missense variant	-	NC_000007.14:g.20394908C>T	gnomAD
COSM3923330	p.Pro359Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20394915C>T	NCI-TCGA Cosmic
rs1217543193	p.Pro359Thr	missense variant	-	NC_000007.14:g.20394914C>A	TOPMed
rs1161335166	p.Thr361Ile	missense variant	-	NC_000007.14:g.20394921C>T	gnomAD
rs770376138	p.Ile362Thr	missense variant	-	NC_000007.14:g.20394924T>C	ExAC,gnomAD
rs1337335166	p.Ala363Thr	missense variant	-	NC_000007.14:g.20394926G>A	gnomAD
rs546211111	p.Gly364Asp	missense variant	-	NC_000007.14:g.20394930G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1341098331	p.Gly364Ser	missense variant	-	NC_000007.14:g.20394929G>A	gnomAD
rs201243170	p.Ile366Met	missense variant	-	NC_000007.14:g.20394937A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1236136130	p.Glu367Lys	missense variant	-	NC_000007.14:g.20394938G>A	TOPMed
rs769644188	p.Glu367Val	missense variant	-	NC_000007.14:g.20394939A>T	ExAC,gnomAD
rs200150010	p.Ala371Glu	missense variant	-	NC_000007.14:g.20394951C>A	ExAC,TOPMed,gnomAD
rs200150010	p.Ala371Val	missense variant	-	NC_000007.14:g.20394951C>T	ExAC,TOPMed,gnomAD
rs976476371	p.Asn372Asp	missense variant	-	NC_000007.14:g.20394953A>G	TOPMed,gnomAD
rs976476371	p.Asn372His	missense variant	-	NC_000007.14:g.20394953A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Asn375His	missense variant	-	NC_000007.14:g.20394962A>C	NCI-TCGA
rs1344954134	p.Val377Ala	missense variant	-	NC_000007.14:g.20394969T>C	gnomAD
NCI-TCGA novel	p.Val377Ter	frameshift	-	NC_000007.14:g.20394967G>-	NCI-TCGA
rs766500550	p.Ala380Gly	missense variant	-	NC_000007.14:g.20394978C>G	ExAC,gnomAD
COSM6177420	p.Lys383Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20398862G>T	NCI-TCGA Cosmic
rs760924326	p.Leu384Ile	missense variant	-	NC_000007.14:g.20398863C>A	ExAC,gnomAD
COSM4938974	p.Ser386Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.20398870C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu387GlyPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.20398868_20398881TTCAGAAGTGAAAG>-	NCI-TCGA
NCI-TCGA novel	p.Gln391His	missense variant	-	NC_000007.14:g.20398886G>T	NCI-TCGA
rs753934657	p.Gln391Arg	missense variant	-	NC_000007.14:g.20398885A>G	ExAC,TOPMed,gnomAD
rs759634590	p.Val392Leu	missense variant	-	NC_000007.14:g.20398887G>C	ExAC,TOPMed,gnomAD
rs759634590	p.Val392Leu	missense variant	-	NC_000007.14:g.20398887G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu393LysPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.20398889G>-	NCI-TCGA
rs1272692791	p.Glu393Lys	missense variant	-	NC_000007.14:g.20398890G>A	gnomAD
rs765716271	p.Asn394Ser	missense variant	-	NC_000007.14:g.20398894A>G	ExAC,gnomAD
rs753195256	p.Gly398Ser	missense variant	-	NC_000007.14:g.20398905G>A	ExAC,TOPMed,gnomAD
rs758789562	p.Gly398Asp	missense variant	-	NC_000007.14:g.20398906G>A	ExAC,TOPMed,gnomAD
rs1196735902	p.Ile399Phe	missense variant	-	NC_000007.14:g.20398908A>T	gnomAD
rs778043359	p.Tyr400Asp	missense variant	-	NC_000007.14:g.20398911T>G	ExAC,TOPMed,gnomAD
rs746100802	p.Ala405Thr	missense variant	-	NC_000007.14:g.20398926G>A	ExAC,TOPMed,gnomAD
rs1458719684	p.Ile406Thr	missense variant	-	NC_000007.14:g.20398930T>C	TOPMed
rs745410397	p.Pro408Leu	missense variant	-	NC_000007.14:g.20398936C>T	ExAC,gnomAD
rs780891294	p.Pro408Thr	missense variant	-	NC_000007.14:g.20398935C>A	ExAC,TOPMed,gnomAD
rs755626676	p.Asp409Glu	missense variant	-	NC_000007.14:g.20398940T>G	ExAC,gnomAD
rs769911416	p.Arg412Thr	missense variant	-	NC_000007.14:g.20398948G>C	TOPMed
rs1385561887	p.Arg412Ser	missense variant	-	NC_000007.14:g.20398949A>C	gnomAD
rs1326061075	p.Lys413Arg	missense variant	-	NC_000007.14:g.20398951A>G	TOPMed,gnomAD
rs749171390	p.Gly415Ser	missense variant	-	NC_000007.14:g.20398956G>A	ExAC,TOPMed,gnomAD
rs1210272130	p.Met416Ile	missense variant	-	NC_000007.14:g.20398961G>C	TOPMed
NCI-TCGA novel	p.Asn421Asp	missense variant	-	NC_000007.14:g.20398974A>G	NCI-TCGA
rs576191204	p.Val422Met	missense variant	-	NC_000007.14:g.20398977G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs576191204	p.Val422Leu	missense variant	-	NC_000007.14:g.20398977G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs376271288	p.Thr423Met	missense variant	-	NC_000007.14:g.20398981C>T	ESP,ExAC,TOPMed,gnomAD
rs780406698	p.Ser424Arg	missense variant	-	NC_000007.14:g.20398985C>A	TOPMed
rs776893836	p.Asn425Lys	missense variant	-	NC_000007.14:g.20398988T>A	ExAC,TOPMed,gnomAD
rs1354385043	p.Asp426Gly	missense variant	-	NC_000007.14:g.20398990A>G	gnomAD
COSM421503	p.Glu427Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20398992G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu429Ile	missense variant	-	NC_000007.14:g.20401724C>A	NCI-TCGA
rs989529388	p.Leu429Pro	missense variant	-	NC_000007.14:g.20401725T>C	TOPMed,gnomAD
rs775602313	p.Asn431Ser	missense variant	-	NC_000007.14:g.20401731A>G	ExAC,TOPMed,gnomAD
rs569381784	p.Val432Ile	missense variant	-	NC_000007.14:g.20401733G>A	1000Genomes,ExAC,gnomAD
rs569381784	p.Val432Leu	missense variant	-	NC_000007.14:g.20401733G>T	1000Genomes,ExAC,gnomAD
rs750057544	p.Met436Thr	missense variant	-	NC_000007.14:g.20401746T>C	ExAC,TOPMed,gnomAD
rs767857585	p.Met436Val	missense variant	-	NC_000007.14:g.20401745A>G	ExAC,TOPMed,gnomAD
COSM275597	p.Lys437Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20401749A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys439Gly	missense variant	-	NC_000007.14:g.20401754T>G	NCI-TCGA
rs1050869912	p.Cys439Tyr	missense variant	-	NC_000007.14:g.20401755G>A	TOPMed
NCI-TCGA novel	p.Asp440His	missense variant	-	NC_000007.14:g.20401757G>C	NCI-TCGA
rs1331152410	p.Asp440Tyr	missense variant	-	NC_000007.14:g.20401757G>T	gnomAD
rs539439520	p.Val441Ala	missense variant	-	NC_000007.14:g.20401761T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1255257963	p.Gly443Ter	stop gained	-	NC_000007.14:g.20401766G>T	gnomAD
rs766126562	p.Gly444Arg	missense variant	-	NC_000007.14:g.20401769G>A	ExAC,TOPMed,gnomAD
rs766126562	p.Gly444Arg	missense variant	-	NC_000007.14:g.20401769G>C	ExAC,TOPMed,gnomAD
rs753442811	p.Lys445Ile	missense variant	-	NC_000007.14:g.20401773A>T	ExAC,gnomAD
rs61757103	p.Lys445Asn	missense variant	-	NC_000007.14:g.20401774A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn446LysPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.20401770_20401771insA	NCI-TCGA
rs779020021	p.Asn446Ser	missense variant	-	NC_000007.14:g.20401776A>G	ExAC,gnomAD
rs752638219	p.Tyr447Cys	missense variant	-	NC_000007.14:g.20401779A>G	ExAC,gnomAD
rs746764508	p.Ile450Met	missense variant	-	NC_000007.14:g.20401789C>G	ExAC,gnomAD
rs1467756103	p.Pro452Thr	missense variant	-	NC_000007.14:g.20401793C>A	gnomAD
rs141933396	p.Ile453Val	missense variant	-	NC_000007.14:g.20401796A>G	ESP,ExAC,TOPMed,gnomAD
rs1415654716	p.Ile453Met	missense variant	-	NC_000007.14:g.20401798T>G	TOPMed
rs780215932	p.Ile453Thr	missense variant	-	NC_000007.14:g.20401797T>C	ExAC,TOPMed,gnomAD
rs150701020	p.Ala459Thr	missense variant	-	NC_000007.14:g.20401814G>A	ESP,ExAC,TOPMed,gnomAD
rs774843881	p.Lys460Glu	missense variant	-	NC_000007.14:g.20401817A>G	ExAC
COSM745559	p.Ile461Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20401822T>G	NCI-TCGA Cosmic
rs762323664	p.Ile461Val	missense variant	-	NC_000007.14:g.20401820A>G	ExAC
NCI-TCGA novel	p.His462Arg	missense variant	-	NC_000007.14:g.20401824A>G	NCI-TCGA
rs772446588	p.His462Gln	missense variant	-	NC_000007.14:g.20401825T>G	ExAC,gnomAD
NCI-TCGA novel	p.His464Pro	missense variant	-	NC_000007.14:g.20401830A>C	NCI-TCGA
rs1391949224	p.His464Arg	missense variant	-	NC_000007.14:g.20401830A>G	gnomAD
NCI-TCGA novel	p.Arg465Ile	missense variant	-	NC_000007.14:g.20401833G>T	NCI-TCGA
rs1300301773	p.Arg465Gly	missense variant	-	NC_000007.14:g.20401832A>G	gnomAD
rs760919892	p.Cys467Gly	missense variant	-	NC_000007.14:g.20401838T>G	ExAC,TOPMed,gnomAD
rs760919892	p.Cys467Arg	missense variant	-	NC_000007.14:g.20401838T>C	ExAC,TOPMed,gnomAD
rs753496259	p.Ser468Ile	missense variant	-	NC_000007.14:g.20401842G>T	ExAC,gnomAD
rs759152706	p.Gln470Arg	missense variant	-	NC_000007.14:g.20401848A>G	ExAC,gnomAD
rs764769444	p.Glu472Lys	missense variant	-	NC_000007.14:g.20401853G>A	ExAC,TOPMed,gnomAD
rs758416175	p.Asn474Lys	missense variant	-	NC_000007.14:g.20401861C>A	ExAC,gnomAD
rs752585612	p.Asn474Tyr	missense variant	-	NC_000007.14:g.20401859A>T	ExAC,gnomAD
COSM452828	p.Arg475Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20401864A>T	NCI-TCGA Cosmic
rs777564682	p.Gly476Val	missense variant	-	NC_000007.14:g.20401866G>T	ExAC,gnomAD
rs756978531	p.Pro477Arg	missense variant	-	NC_000007.14:g.20401869C>G	ExAC,gnomAD
COSM3637172	p.Gly479Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20401875G>A	NCI-TCGA Cosmic
rs80015015	p.Cys481Tyr	missense variant	-	NC_000007.14:g.20401881G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs780276717	p.Cys481Arg	missense variant	-	NC_000007.14:g.20401880T>C	ExAC,gnomAD
rs768738057	p.Val482Ile	missense variant	-	NC_000007.14:g.20401883G>A	ExAC,TOPMed,gnomAD
rs1271278237	p.Val482Ala	missense variant	-	NC_000007.14:g.20401884T>C	TOPMed
rs1247664849	p.Asp483Asn	missense variant	-	NC_000007.14:g.20401886G>A	TOPMed
rs61753451	p.Asp483Glu	missense variant	-	NC_000007.14:g.20401888T>A	ExAC,gnomAD
rs779022693	p.Asp483Gly	missense variant	-	NC_000007.14:g.20401887A>G	ExAC,gnomAD
rs61753451	p.Asp483Glu	missense variant	-	NC_000007.14:g.20401888T>G	ExAC,gnomAD
rs772676164	p.Glu484Ala	missense variant	-	NC_000007.14:g.20401890A>C	ExAC,gnomAD
rs772676164	p.Glu484Gly	missense variant	-	NC_000007.14:g.20401890A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp488Tyr	missense variant	-	NC_000007.14:g.20401901G>T	NCI-TCGA
rs759203110	p.Asp488Ala	missense variant	-	NC_000007.14:g.20401902A>C	ExAC,gnomAD
rs1303886938	p.Ser489Cys	missense variant	-	NC_000007.14:g.20401905C>G	gnomAD
rs764967496	p.Lys490Arg	missense variant	-	NC_000007.14:g.20401908A>G	ExAC,gnomAD
rs762336929	p.Cys491Tyr	missense variant	-	NC_000007.14:g.20401911G>A	ExAC,TOPMed,gnomAD
rs1047620506	p.Cys491Ter	stop gained	-	NC_000007.14:g.20401912T>A	TOPMed
rs139948779	p.Cys491Arg	missense variant	-	NC_000007.14:g.20401910T>C	ESP,ExAC,TOPMed,gnomAD
rs143026332	p.Gln493His	missense variant	-	NC_000007.14:g.20401918G>C	ESP,ExAC,TOPMed,gnomAD
rs1391694668	p.Cys494Arg	missense variant	-	NC_000007.14:g.20401919T>C	TOPMed
rs147445812	p.Asp495Asn	missense variant	-	NC_000007.14:g.20401922G>A	ESP,ExAC,TOPMed,gnomAD
rs1364012694	p.Asp495Glu	missense variant	-	NC_000007.14:g.20401924T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Lys498ValPheSerTerUnkUnkUnk	frameshift	-	NC_000007.14:g.20401928_20401931AATA>-	NCI-TCGA
rs555257706	p.Phe501Ser	missense variant	-	NC_000007.14:g.20401941T>C	1000Genomes,ExAC,gnomAD
rs181108650	p.Asp502Gly	missense variant	-	NC_000007.14:g.20401944A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs181108650	p.Asp502Val	missense variant	-	NC_000007.14:g.20401944A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1441301436	p.Asp504Tyr	missense variant	-	NC_000007.14:g.20401949G>T	TOPMed
rs750206788	p.Gln505His	missense variant	-	NC_000007.14:g.20401954G>C	ExAC,TOPMed,gnomAD
rs377569049	p.Glu509Gly	missense variant	-	NC_000007.14:g.20401965A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu509Asp	missense variant	-	NC_000007.14:g.20401966G>C	NCI-TCGA
rs377569049	p.Glu509Ala	missense variant	-	NC_000007.14:g.20401965A>C	ESP,ExAC,TOPMed,gnomAD
COSM1088283	p.Ser513Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20401977C>T	NCI-TCGA Cosmic
rs1468172065	p.His514Tyr	missense variant	-	NC_000007.14:g.20401979C>T	TOPMed
rs1347981355	p.Gln517Glu	missense variant	-	NC_000007.14:g.20401988C>G	gnomAD
rs370168222	p.Pro518Leu	missense variant	-	NC_000007.14:g.20401992C>T	ESP,ExAC,TOPMed,gnomAD
rs777189717	p.Val519Ile	missense variant	-	NC_000007.14:g.20401994G>A	ExAC,gnomAD
rs746227584	p.Arg523Ter	stop gained	-	NC_000007.14:g.20402006C>T	ExAC,gnomAD
rs1271534799	p.Arg523Gln	missense variant	-	NC_000007.14:g.20402007G>A	TOPMed,gnomAD
rs1227178829	p.Val527Asp	missense variant	-	NC_000007.14:g.20402019T>A	gnomAD
rs1310036399	p.Cys531Arg	missense variant	-	NC_000007.14:g.20402030T>C	gnomAD
rs1324011286	p.Cys531Phe	missense variant	-	NC_000007.14:g.20402031G>T	gnomAD
rs1324011286	p.Cys531Tyr	missense variant	-	NC_000007.14:g.20402031G>A	gnomAD
rs762546199	p.Ser532Leu	missense variant	-	NC_000007.14:g.20402034C>T	ExAC,gnomAD
rs139989805	p.His534Gln	missense variant	-	NC_000007.14:g.20402041C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly539Val	missense variant	-	NC_000007.14:g.20402055G>T	NCI-TCGA
rs112570626	p.Lys540Glu	missense variant	-	NC_000007.14:g.20402057A>G	ESP,ExAC,TOPMed,gnomAD
rs761796504	p.Val541Leu	missense variant	-	NC_000007.14:g.20402060G>C	ExAC,gnomAD
rs1472594910	p.Tyr542Cys	missense variant	-	NC_000007.14:g.20402064A>G	gnomAD
rs750260021	p.Glu547Gly	missense variant	-	NC_000007.14:g.20402079A>G	ExAC,gnomAD
rs755883816	p.Lys548Asn	missense variant	-	NC_000007.14:g.20402083G>T	ExAC,TOPMed,gnomAD
COSM745553	p.Asp549Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20402084G>T	NCI-TCGA Cosmic
rs1384239930	p.Asp549Asn	missense variant	-	NC_000007.14:g.20402084G>A	TOPMed
rs765521026	p.Asp550Glu	missense variant	-	NC_000007.14:g.20402089C>G	ExAC,gnomAD
rs1165619634	p.Asp550His	missense variant	-	NC_000007.14:g.20402087G>C	gnomAD
NCI-TCGA novel	p.Phe551Leu	missense variant	-	NC_000007.14:g.20402092T>A	NCI-TCGA
COSM3880031	p.Phe551Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20402090T>C	NCI-TCGA Cosmic
rs1455402921	p.Phe551Ile	missense variant	-	NC_000007.14:g.20402090T>A	gnomAD
rs1287061611	p.Cys553Arg	missense variant	-	NC_000007.14:g.20402096T>C	TOPMed
rs1320047190	p.Cys553Tyr	missense variant	-	NC_000007.14:g.20402097G>A	gnomAD
COSM6177416	p.Pro554Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20402100C>T	NCI-TCGA Cosmic
rs752824831	p.Tyr555Cys	missense variant	-	NC_000007.14:g.20402103A>G	ExAC,gnomAD
rs562438916	p.His556Tyr	missense variant	-	NC_000007.14:g.20402105C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs533084179	p.His556Arg	missense variant	-	NC_000007.14:g.20402106A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs747069550	p.His557Gln	missense variant	-	NC_000007.14:g.20402110T>A	ExAC,gnomAD
rs1376099758	p.Asn559Ser	missense variant	-	NC_000007.14:g.20402115A>G	TOPMed
rs757903380	p.Leu560Pro	missense variant	-	NC_000007.14:g.20402118T>C	ExAC,gnomAD
COSM6177414	p.Cys561Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20402121G>T	NCI-TCGA Cosmic
rs1288216607	p.Cys561Tyr	missense variant	-	NC_000007.14:g.20402121G>A	gnomAD
NCI-TCGA novel	p.Ala562Val	missense variant	-	NC_000007.14:g.20402124C>T	NCI-TCGA
rs1327720010	p.Ala562Gly	missense variant	-	NC_000007.14:g.20402124C>G	gnomAD
rs781754147	p.Gly563Arg	missense variant	-	NC_000007.14:g.20402126G>A	ExAC
rs1424318190	p.Glu566Ala	missense variant	-	NC_000007.14:g.20404637A>C	gnomAD
rs1435981892	p.Glu566Gln	missense variant	-	NC_000007.14:g.20404636G>C	TOPMed,gnomAD
rs1202375398	p.Ala569Val	missense variant	-	NC_000007.14:g.20404646C>T	TOPMed
rs1189262023	p.Gly570Ala	missense variant	-	NC_000007.14:g.20404649G>C	gnomAD
NCI-TCGA novel	p.Cys574Ser	missense variant	-	NC_000007.14:g.20404660T>A	NCI-TCGA
rs370722333	p.Phe575Leu	missense variant	-	NC_000007.14:g.20404663T>C	ESP,ExAC,TOPMed,gnomAD
rs370722333	p.Phe575Ile	missense variant	-	NC_000007.14:g.20404663T>A	ESP,ExAC,TOPMed,gnomAD
rs370722333	p.Phe575Val	missense variant	-	NC_000007.14:g.20404663T>G	ESP,ExAC,TOPMed,gnomAD
rs1271600643	p.Ser576Arg	missense variant	-	NC_000007.14:g.20404668T>G	TOPMed
rs752784233	p.Gly577Val	missense variant	-	NC_000007.14:g.20404670G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly577Ala	missense variant	-	NC_000007.14:g.20404670G>C	NCI-TCGA
rs752784233	p.Gly577Asp	missense variant	-	NC_000007.14:g.20404670G>A	TOPMed,gnomAD
rs771533036	p.Gly577Ser	missense variant	-	NC_000007.14:g.20404669G>A	ExAC,gnomAD
rs773141498	p.Trp578Arg	missense variant	-	NC_000007.14:g.20404672T>C	ExAC,gnomAD
rs773141498	p.Trp578Gly	missense variant	-	NC_000007.14:g.20404672T>G	ExAC,gnomAD
rs79486768	p.Glu579Gly	missense variant	-	NC_000007.14:g.20404676A>G	ExAC,gnomAD
rs4134436	p.Glu579Asp	missense variant	-	NC_000007.14:g.20404677A>T	ExAC,gnomAD
rs1434695904	p.Glu579Lys	missense variant	-	NC_000007.14:g.20404675G>A	TOPMed,gnomAD
rs1334085134	p.Gly580Val	missense variant	-	NC_000007.14:g.20404679G>T	TOPMed
rs764269573	p.Asp581Gly	missense variant	-	NC_000007.14:g.20404682A>G	ExAC,gnomAD
rs764269573	p.Asp581Val	missense variant	-	NC_000007.14:g.20404682A>T	ExAC,gnomAD
rs746886746	p.Arg582Gly	missense variant	-	NC_000007.14:g.20404684C>G	ExAC,TOPMed,gnomAD
rs746886746	p.Arg582Ter	stop gained	-	NC_000007.14:g.20404684C>T	ExAC,TOPMed,gnomAD
rs574358525	p.Arg582Gln	missense variant	-	NC_000007.14:g.20404685G>A	ExAC,TOPMed,gnomAD
rs1169590417	p.Cys583Arg	missense variant	-	NC_000007.14:g.20404687T>C	TOPMed
COSM4877825	p.Cys585Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20404694G>A	NCI-TCGA Cosmic
rs750980773	p.Pro586Leu	missense variant	-	NC_000007.14:g.20404697C>T	ExAC,gnomAD
COSM3832467	p.Ser587Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20404700C>T	NCI-TCGA Cosmic
rs1034650512	p.Ala590Ser	missense variant	-	NC_000007.14:g.20404708G>T	gnomAD
NCI-TCGA novel	p.Gln591Ter	stop gained	-	NC_000007.14:g.20404711C>T	NCI-TCGA
rs148463159	p.His592Tyr	missense variant	-	NC_000007.14:g.20404714C>T	ESP,ExAC,TOPMed,gnomAD
rs148463159	p.His592Asp	missense variant	-	NC_000007.14:g.20404714C>G	ESP,ExAC,TOPMed,gnomAD
rs1187584553	p.Val594Asp	missense variant	-	NC_000007.14:g.20404721T>A	gnomAD
rs780580519	p.Val594Phe	missense variant	-	NC_000007.14:g.20404720G>T	ExAC,gnomAD
rs1188525624	p.Lys597Asn	missense variant	-	NC_000007.14:g.20404731G>C	TOPMed
rs1241673978	p.Gly598Ala	missense variant	-	NC_000007.14:g.20404733G>C	TOPMed,gnomAD
rs149674783	p.Arg604Ser	missense variant	-	NC_000007.14:g.20404752A>T	1000Genomes,ExAC,gnomAD
rs754205396	p.Arg604Lys	missense variant	-	NC_000007.14:g.20404751G>A	ExAC,gnomAD
rs778570764	p.Thr606Met	missense variant	-	NC_000007.14:g.20404757C>T	ExAC,TOPMed,gnomAD
rs771587942	p.Cys607Tyr	missense variant	-	NC_000007.14:g.20404760G>A	ExAC,gnomAD
rs1264319129	p.Cys612Gly	missense variant	-	NC_000007.14:g.20404774T>G	TOPMed
rs61733918	p.Glu613Asp	missense variant	-	NC_000007.14:g.20404779G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu613Ala	missense variant	-	NC_000007.14:g.20404778A>C	NCI-TCGA
rs1204357619	p.Glu613Gly	missense variant	-	NC_000007.14:g.20404778A>G	TOPMed
rs746520393	p.Cys614Gly	missense variant	-	NC_000007.14:g.20404780T>G	ExAC,gnomAD
rs1295612605	p.Thr615Ile	missense variant	-	NC_000007.14:g.20404784C>T	gnomAD
rs1228157455	p.Asp616Asn	missense variant	-	NC_000007.14:g.20404786G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro617Ser	missense variant	-	NC_000007.14:g.20404789C>T	NCI-TCGA
NCI-TCGA novel	p.Pro617Leu	missense variant	-	NC_000007.14:g.20404790C>T	NCI-TCGA
rs978802596	p.Ser619Arg	missense variant	-	NC_000007.14:g.20404797C>G	gnomAD
rs1355542860	p.Ser619Asn	missense variant	-	NC_000007.14:g.20404796G>A	gnomAD
rs1355542860	p.Ser619Asn	missense variant	-	NC_000007.14:g.20404796G>A	NCI-TCGA
rs769670341	p.Gly621Ser	missense variant	-	NC_000007.14:g.20404801G>A	ExAC,gnomAD
rs151014289	p.Arg622Cys	missense variant	-	NC_000007.14:g.20404804C>T	ESP,ExAC,TOPMed,gnomAD
rs151014289	p.Arg622Gly	missense variant	-	NC_000007.14:g.20404804C>G	ESP,ExAC,TOPMed,gnomAD
rs767838901	p.Arg622His	missense variant	-	NC_000007.14:g.20404805G>A	ExAC,TOPMed,gnomAD
COSM1088286	p.Phe623Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20404809C>A	NCI-TCGA Cosmic
rs773465699	p.Phe623Ser	missense variant	-	NC_000007.14:g.20404808T>C	ExAC,gnomAD
rs773465699	p.Phe623Tyr	missense variant	-	NC_000007.14:g.20404808T>A	ExAC,gnomAD
NCI-TCGA novel	p.His626Tyr	missense variant	-	NC_000007.14:g.20404816C>T	NCI-TCGA
NCI-TCGA novel	p.His626Asn	missense variant	-	NC_000007.14:g.20404816C>A	NCI-TCGA
rs766815527	p.Pro628Ser	missense variant	-	NC_000007.14:g.20404822C>T	ExAC,gnomAD
NCI-TCGA novel	p.Cys630Phe	missense variant	-	NC_000007.14:g.20404829G>T	NCI-TCGA
rs140857851	p.Ala633Asp	missense variant	-	NC_000007.14:g.20404838C>A	ESP,ExAC,gnomAD
rs765524617	p.Cys634Arg	missense variant	-	NC_000007.14:g.20404840T>C	ExAC,gnomAD
rs1456992248	p.Cys634Ser	missense variant	-	NC_000007.14:g.20404841G>C	gnomAD
rs1456992248	p.Cys634Tyr	missense variant	-	NC_000007.14:g.20404841G>A	gnomAD
rs1318963976	p.Lys635Gln	missense variant	-	NC_000007.14:g.20404843A>C	gnomAD
NCI-TCGA novel	p.Trp638Ter	stop gained	-	NC_000007.14:g.20404853G>A	NCI-TCGA
rs1318458705	p.Asn639Tyr	missense variant	-	NC_000007.14:g.20406063A>T	gnomAD
rs919421283	p.Met641Ile	missense variant	-	NC_000007.14:g.20406071G>A	TOPMed
rs1254991736	p.Met641Thr	missense variant	-	NC_000007.14:g.20406070T>C	gnomAD
rs1212395452	p.Cys643Arg	missense variant	-	NC_000007.14:g.20406075T>C	gnomAD
rs983889935	p.Leu644Phe	missense variant	-	NC_000007.14:g.20406078C>T	TOPMed
rs375280352	p.His645Gln	missense variant	-	NC_000007.14:g.20406083C>G	ESP,ExAC,TOPMed,gnomAD
rs375280352	p.His645Gln	missense variant	-	NC_000007.14:g.20406083C>A	ESP,ExAC,TOPMed,gnomAD
rs570372889	p.Pro646Ser	missense variant	-	NC_000007.14:g.20406084C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1176027916	p.Asn648His	missense variant	-	NC_000007.14:g.20406090A>C	gnomAD
rs909589269	p.Asn648Ser	missense variant	-	NC_000007.14:g.20406091A>G	TOPMed
rs756725981	p.Gln651Arg	missense variant	-	NC_000007.14:g.20406100A>G	ExAC,gnomAD
rs1335338443	p.Ala652Val	missense variant	-	NC_000007.14:g.20406103C>T	gnomAD
rs780696993	p.Ile653Thr	missense variant	-	NC_000007.14:g.20406106T>C	ExAC,gnomAD
rs745357449	p.Cys657Tyr	missense variant	-	NC_000007.14:g.20406118G>A	ExAC,gnomAD
rs368140852	p.Thr659Ile	missense variant	-	NC_000007.14:g.20406124C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368140852	p.Thr659Asn	missense variant	-	NC_000007.14:g.20406124C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768529387	p.Ala662Thr	missense variant	-	NC_000007.14:g.20406132G>A	ExAC,TOPMed,gnomAD
rs773308729	p.Leu663Phe	missense variant	-	NC_000007.14:g.20406135C>T	ExAC,gnomAD
rs771042701	p.Met664Thr	missense variant	-	NC_000007.14:g.20406139T>C	ExAC,gnomAD
rs776835305	p.Glu665Asp	missense variant	-	NC_000007.14:g.20406143A>T	ExAC,gnomAD
rs759576648	p.Gln666His	missense variant	-	NC_000007.14:g.20406146A>C	ExAC,gnomAD
rs1303463754	p.Gln667His	missense variant	-	NC_000007.14:g.20406149G>T	gnomAD
rs770339148	p.Gln667Lys	missense variant	-	NC_000007.14:g.20406147C>A	ExAC,gnomAD
rs1303463754	p.Gln667His	missense variant	-	NC_000007.14:g.20406149G>C	gnomAD
rs751381514	p.Asp671Asn	missense variant	-	NC_000007.14:g.20406159G>A	ExAC,TOPMed,gnomAD
rs751381514	p.Asp671Asn	missense variant	-	NC_000007.14:g.20406159G>A	NCI-TCGA,NCI-TCGA Cosmic
rs201628724	p.Ser678Thr	missense variant	-	NC_000007.14:g.20409623T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201628724	p.Ser678Pro	missense variant	-	NC_000007.14:g.20409623T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser679Thr	missense variant	-	NC_000007.14:g.20409627G>C	NCI-TCGA
rs769828082	p.Ser679Arg	missense variant	-	NC_000007.14:g.20409628C>A	ExAC,TOPMed,gnomAD
rs1341292792	p.Pro680Ser	missense variant	-	NC_000007.14:g.20409629C>T	TOPMed
rs775982847	p.Tyr682Asn	missense variant	-	NC_000007.14:g.20409635T>A	ExAC,gnomAD
rs763395646	p.Phe686Tyr	missense variant	-	NC_000007.14:g.20409648T>A	ExAC,gnomAD
rs763395646	p.Phe686Ser	missense variant	-	NC_000007.14:g.20409648T>C	ExAC,gnomAD
rs1462768505	p.Ile689Val	missense variant	-	NC_000007.14:g.20409656A>G	NCI-TCGA
rs1462768505	p.Ile689Val	missense variant	-	NC_000007.14:g.20409656A>G	gnomAD
rs774846366	p.Phe690Leu	missense variant	-	NC_000007.14:g.20409661C>A	ExAC,TOPMed,gnomAD
rs1344235349	p.Ile691Val	missense variant	-	NC_000007.14:g.20409662A>G	gnomAD
rs762052934	p.Ile691Thr	missense variant	-	NC_000007.14:g.20409663T>C	ExAC,TOPMed,gnomAD
rs372866371	p.Phe694Leu	missense variant	-	NC_000007.14:g.20409671T>C	ESP,TOPMed,gnomAD
rs372866371	p.Phe694Ile	missense variant	-	NC_000007.14:g.20409671T>A	ESP,TOPMed,gnomAD
rs1361984949	p.Leu695Phe	missense variant	-	NC_000007.14:g.20409676G>T	gnomAD
rs750056004	p.Leu698Trp	missense variant	-	NC_000007.14:g.20409684T>G	ExAC,gnomAD
rs1258526124	p.Lys700Glu	missense variant	-	NC_000007.14:g.20409689A>G	gnomAD
COSM3880033	p.Leu702Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20409696T>C	NCI-TCGA Cosmic
COSM6177410	p.Ile703Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20409700C>G	NCI-TCGA Cosmic
rs1398540631	p.Ile704Val	missense variant	-	NC_000007.14:g.20409701A>G	TOPMed
NCI-TCGA novel	p.Gln706Leu	missense variant	-	NC_000007.14:g.20409708A>T	NCI-TCGA
rs143176145	p.Asn712Lys	missense variant	-	NC_000007.14:g.20409727T>G	ESP,ExAC,TOPMed,gnomAD
COSM6109811	p.Ser713Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20409728A>T	NCI-TCGA Cosmic
rs765157346	p.Ser713Ile	missense variant	-	NC_000007.14:g.20409729G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn714Lys	missense variant	-	NC_000007.14:g.20409733T>A	NCI-TCGA
COSM3637176	p.Asn714Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20409731A>G	NCI-TCGA Cosmic
rs752582075	p.Asn714Ser	missense variant	-	NC_000007.14:g.20409732A>G	ExAC,gnomAD
rs146509338	p.Ile716Met	missense variant	-	NC_000007.14:g.20409739T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1467536342	p.Ser720Leu	missense variant	-	NC_000007.14:g.20409750C>T	gnomAD
rs746026000	p.Asp721Ala	missense variant	-	NC_000007.14:g.20409753A>C	ExAC,gnomAD
rs186406594	p.Arg723Ser	missense variant	-	NC_000007.14:g.20409760A>T	1000Genomes,ExAC,gnomAD
rs186406594	p.Arg723Ser	missense variant	-	NC_000007.14:g.20409760A>C	1000Genomes,ExAC,gnomAD
rs975918181	p.Arg723Lys	missense variant	-	NC_000007.14:g.20409759G>A	TOPMed
rs868022064	p.Val724Met	missense variant	-	NC_000007.14:g.20409761G>A	TOPMed
rs868022064	p.Val724Leu	missense variant	-	NC_000007.14:g.20409761G>C	TOPMed
rs769245814	p.Ala726Pro	missense variant	-	NC_000007.14:g.20409767G>C	ExAC,TOPMed,gnomAD
rs769245814	p.Ala726Thr	missense variant	-	NC_000007.14:g.20409767G>A	ExAC,TOPMed,gnomAD
COSM3637178	p.Ser727Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20409771C>T	NCI-TCGA Cosmic
rs748576516	p.Ser727Ala	missense variant	-	NC_000007.14:g.20409770T>G	ExAC,TOPMed,gnomAD
rs772257032	p.Lys728Glu	missense variant	-	NC_000007.14:g.20409773A>G	ExAC,gnomAD
rs772257032	p.Lys728Gln	missense variant	-	NC_000007.14:g.20409773A>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys729Arg	missense variant	-	NC_000007.14:g.20409777A>G	NCI-TCGA
NCI-TCGA novel	p.Lys729ArgPheSerTerUnk	frameshift	-	NC_000007.14:g.20409772A>-	NCI-TCGA
rs1376787625	p.Asp730Gly	missense variant	-	NC_000007.14:g.20409876A>G	gnomAD
rs953061426	p.Asp730Asn	missense variant	-	NC_000007.14:g.20409875G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Lys731Asn	missense variant	-	NC_000007.14:g.20409880G>C	NCI-TCGA
NCI-TCGA novel	p.Lys731Glu	missense variant	-	NC_000007.14:g.20409878A>G	NCI-TCGA
COSM3880035	p.Lys731Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20409879A>G	NCI-TCGA Cosmic
rs1353283197	p.Gln735Arg	missense variant	-	NC_000007.14:g.20409891A>G	gnomAD
rs1444735755	p.Ser736Thr	missense variant	-	NC_000007.14:g.20409894G>C	gnomAD
rs1280575240	p.Cys738Tyr	missense variant	-	NC_000007.14:g.20409900G>A	gnomAD
rs1232433613	p.Thr739Arg	missense variant	-	NC_000007.14:g.20409903C>G	gnomAD
rs754971087	p.Thr739Pro	missense variant	-	NC_000007.14:g.20409902A>C	ExAC,gnomAD
rs754971087	p.Thr739Ala	missense variant	-	NC_000007.14:g.20409902A>G	ExAC,gnomAD
COSM3880037	p.Val742Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.20409911G>A	NCI-TCGA Cosmic
rs1348639275	p.Thr743Ser	missense variant	-	NC_000007.14:g.20409915C>G	gnomAD
NCI-TCGA novel	p.Arg745Leu	missense variant	-	NC_000007.14:g.20409921G>T	NCI-TCGA
rs772616945	p.Arg745Ter	stop gained	-	NC_000007.14:g.20409920C>T	ExAC,gnomAD
rs545242791	p.Arg745Gln	missense variant	-	NC_000007.14:g.20409921G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs747343754	p.Arg746Ser	missense variant	-	NC_000007.14:g.20409923C>A	ExAC,TOPMed,gnomAD
rs770751693	p.Arg746His	missense variant	-	NC_000007.14:g.20409924G>A	NCI-TCGA
rs747343754	p.Arg746Cys	missense variant	-	NC_000007.14:g.20409923C>T	ExAC,TOPMed,gnomAD
rs770751693	p.Arg746His	missense variant	-	NC_000007.14:g.20409924G>A	ExAC,TOPMed,gnomAD
rs1453388773	p.Glu747Gln	missense variant	-	NC_000007.14:g.20409926G>C	TOPMed,gnomAD
rs1453388773	p.Glu747Lys	missense variant	-	NC_000007.14:g.20409926G>A	TOPMed,gnomAD
rs1057352360	p.Lys748Arg	missense variant	-	NC_000007.14:g.20409930A>G	TOPMed,gnomAD
rs759121054	p.Pro749Ser	missense variant	-	NC_000007.14:g.20409932C>T	ExAC,gnomAD
rs1166815034	p.Ile752Val	missense variant	-	NC_000007.14:g.20409941A>G	gnomAD
rs1394965178	p.Met754Val	missense variant	-	NC_000007.14:g.20409947A>G	TOPMed,gnomAD
rs536721260	p.Asp755Gly	missense variant	-	NC_000007.14:g.20409951A>G	TOPMed
rs764588528	p.Ile756Thr	missense variant	-	NC_000007.14:g.20409954T>C	ExAC,gnomAD
rs751396072	p.His762Gln	missense variant	-	NC_000007.14:g.20409973T>G	ExAC,TOPMed,gnomAD
rs757024284	p.Glu763Lys	missense variant	-	NC_000007.14:g.20409974G>A	ExAC,gnomAD
rs894537446	p.Phe765Val	missense variant	-	NC_000007.14:g.20409980T>G	TOPMed
rs372099167	p.Arg766Thr	missense variant	-	NC_000007.14:g.20409984G>C	ESP,ExAC,TOPMed,gnomAD
rs1337341454	p.Cys767Tyr	missense variant	-	NC_000007.14:g.20409987G>A	NCI-TCGA
rs1337341454	p.Cys767Tyr	missense variant	-	NC_000007.14:g.20409987G>A	gnomAD
rs1216294908	p.Phe769Ser	missense variant	-	NC_000007.14:g.20409993T>C	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0014175	Endometriosis	disease	CTD_human
C0017638	Glioma	disease	BEFREE
C0020517	Hypersensitivity	group	GWASCAT
C0021390	Inflammatory Bowel Diseases	group	CTD_human
C0036421	Systemic Scleroderma	disease	BEFREE
C0269102	Endometrioma	disease	CTD_human
C0455829	Waist Circumference	phenotype	GWASCAT
C0578022	Finding of body mass index	phenotype	GWASCAT
C0751690	Malignant Peripheral Nerve Sheath Tumor	disease	BEFREE
C0917804	Arteriovenous Malformations, Cerebral	group	BEFREE
C1305855	Body mass index	phenotype	GWASCAT
C1519383	Smoking Behaviors	phenotype	GWASCAT
C1800706	Idiopathic Pulmonary Fibrosis	disease	BEFREE
C4049938	Physical Activity Measurement	phenotype	GWASCAT

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005178	integrin binding	IBA
GO:0038023	signaling receptor activity	IEA
GO:1990430	extracellular matrix protein binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001570	vasculogenesis	IMP
GO:0001573	ganglioside metabolic process	IEA
GO:0007155	cell adhesion	TAS
GO:0007229	integrin-mediated signaling pathway	IBA
GO:0010628	positive regulation of gene expression	IMP
GO:0010629	negative regulation of gene expression	IMP
GO:0016477	cell migration	IBA
GO:0030198	extracellular matrix organization	TAS
GO:0033627	cell adhesion mediated by integrin	IBA
GO:0045766	positive regulation of angiogenesis	IMP
GO:0051216	cartilage development	IMP
GO:0060674	placenta blood vessel development	TAS
GO:1901388	regulation of transforming growth factor beta activation	ISS
GO:0007160	cell-matrix adhesion	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	TAS
GO:0005925	focal adhesion	IBA
GO:0008305	integrin complex	TAS
GO:0009986	cell surface	IDA
GO:0034686	integrin alphav-beta8 complex	IDA
GO:0070062	extracellular exosome	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1474244	Extracellular matrix organization	TAS
R-HSA-1566948	Elastic fibre formation	TAS
R-HSA-2129379	Molecules associated with elastic fibres	TAS
R-HSA-216083	Integrin cell surface interactions	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in increased expression of ITGB8 mRNA	28329830
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	2,4,5,2',4',5'-hexachlorobiphenyl affects the expression of ITGB8 mRNA	20638727
C012796	2-butenal	[2-butenal co-treated with Tetradecanoylphorbol Acetate] results in decreased expression of ITGB8 mRNA	24849683
C028451	3,4,3',4'-tetrachlorobiphenyl	3,4,3',4'-tetrachlorobiphenyl affects the expression of ITGB8 mRNA	20638727
C482492	3,4,5,4'-tetramethoxystilbene	3,4,5,4'-tetramethoxystilbene affects the expression of ITGB8 mRNA	26428916
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ITGB8 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of ITGB8 mRNA	19150397
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of ITGB8 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of ITGB8 intron	30157460
D000393	Air Pollutants	Air Pollutants analog results in increased expression of ITGB8 mRNA	21757418
C011512	alpha-naphthoflavone	alpha-naphthoflavone inhibits the reaction [Methylcholanthrene results in decreased expression of ITGB8 mRNA]	29094188
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of ITGB8 mRNA	24449571
D017632	Asbestos, Serpentine	Asbestos, Serpentine results in decreased methylation of ITGB8 gene	29523930
D017632	Asbestos, Serpentine	Asbestos, Serpentine results in increased expression of ITGB8 mRNA	24160326
D001280	Atrazine	Atrazine results in increased expression of ITGB8 mRNA	29505797
C547126	AZM551248	AZM551248 results in decreased expression of ITGB8 mRNA	22323515
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of ITGB8 mRNA	29950665
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of ITGB8 mRNA	20064835
C006780	bisphenol A	bisphenol A affects the expression of ITGB8 mRNA	23557687
C006780	bisphenol A	bisphenol A results in decreased methylation of ITGB8 intron	30906313
C006780	bisphenol A	bisphenol A results in decreased expression of ITGB8 mRNA	20678512
C006780	bisphenol A	[bisphenol A co-treated with Estradiol] results in increased expression of ITGB8 mRNA	26496021
C006780	bisphenol A	bisphenol A results in decreased expression of ITGB8 mRNA	25181051; 30816183;
C006780	bisphenol A	bisphenol A results in increased expression of ITGB8 mRNA	29097150
C018475	butyraldehyde	butyraldehyde results in decreased expression of ITGB8 mRNA	26079696
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of ITGB8 mRNA	12160620
D002117	Calcitriol	Calcitriol results in increased expression of ITGB8 mRNA	26485663
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of ITGB8 mRNA	25827057
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of ITGB8 mRNA	20938992
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of ITGB8 gene	20938992
D003035	Cobalt	[tungsten carbide co-treated with Cobalt] results in decreased expression of ITGB8 mRNA	18078969
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of ITGB8 mRNA	20971185
D003471	Cuprizone	Cuprizone results in decreased expression of ITGB8 mRNA	26577399; 27523638;
D003703	Demecolcine	Demecolcine results in increased expression of ITGB8 mRNA	23649840
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of ITGB8 mRNA	29950665
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of ITGB8 mRNA	17361019
D004041	Dietary Fats	Dietary Fats results in decreased expression of ITGB8 mRNA	25016146
D004041	Dietary Fats	Dietary Fats results in increased expression of ITGB8 mRNA	18042831
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ITGB8 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of ITGB8 mRNA	29803840
C118739	entinostat	entinostat results in decreased expression of ITGB8 mRNA	27188386
D004958	Estradiol	Estradiol affects the expression of ITGB8 mRNA	22574217
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of ITGB8 mRNA	30165855
D004958	Estradiol	Estradiol results in decreased expression of ITGB8 mRNA	19484750; 25210133;
D004958	Estradiol	[bisphenol A co-treated with Estradiol] results in increased expression of ITGB8 mRNA	26496021
D000431	Ethanol	Ethanol results in increased expression of ITGB8 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of ITGB8 mRNA	29097150
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of ITGB8 mRNA	23649840
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in increased expression of ITGB8 mRNA	28329830
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of ITGB8 mRNA	20938992
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of ITGB8 gene	20938992
D005557	Formaldehyde	Formaldehyde results in increased expression of ITGB8 mRNA	23649840
D005557	Formaldehyde	Formaldehyde results in increased expression of ITGB8 mRNA	23322811
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of ITGB8 mRNA	26752646
D019344	Lactic Acid	Lactic Acid results in increased expression of ITGB8 mRNA	30851411
D018021	Lithium Chloride	Lithium Chloride results in increased expression of ITGB8 mRNA	15711924
D008344	Maneb	[Paraquat co-treated with Maneb] affects the expression of ITGB8 mRNA	22563483
D008687	Metformin	Metformin results in increased expression of ITGB8 mRNA	31324951
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of ITGB8 mRNA	20938992
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of ITGB8 gene	20938992
D008727	Methotrexate	Methotrexate results in increased expression of ITGB8 mRNA	21678067
D008748	Methylcholanthrene	alpha-naphthoflavone inhibits the reaction [Methylcholanthrene results in decreased expression of ITGB8 mRNA]	29094188
D008748	Methylcholanthrene	Methylcholanthrene results in decreased expression of ITGB8 mRNA	29094188
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of ITGB8 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of ITGB8 mRNA	23649840
C022838	nickel chloride	nickel chloride results in increased expression of ITGB8 mRNA	17312168
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of ITGB8 mRNA	20971185
D000077150	Oxaliplatin	Oxaliplatin results in decreased expression of ITGB8 mRNA	16510598
D000073878	Palm Oil	Palm Oil results in increased expression of ITGB8 mRNA	18042831
D010269	Paraquat	[Paraquat co-treated with Maneb] affects the expression of ITGB8 mRNA	22563483
D010269	Paraquat	Paraquat results in increased expression of ITGB8 mRNA	22563483
D052638	Particulate Matter	Particulate Matter results in decreased expression of ITGB8 mRNA	23085030
C000622612	peracetylated N-azidoacetylmannosamine	peracetylated N-azidoacetylmannosamine results in decreased expression of ITGB8 mRNA	30181604
D010656	Phenylephrine	Phenylephrine results in increased expression of ITGB8 mRNA	18158353
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ITGB8 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of ITGB8 mRNA	26272509
D010936	Plant Extracts	Plant Extracts results in increased expression of ITGB8 mRNA	21297082
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of ITGB8 mRNA	23608068
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of ITGB8 mRNA	24780913
C107773	pterostilbene	pterostilbene results in decreased expression of ITGB8 mRNA	22450950
C107773	pterostilbene	pterostilbene results in increased expression of ITGB8 mRNA	22450950
C428725	pyridaben	pyridaben results in increased expression of ITGB8 mRNA	22563483
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of ITGB8 mRNA	21354282
D013755	Tetradecanoylphorbol Acetate	[2-butenal co-treated with Tetradecanoylphorbol Acetate] results in decreased expression of ITGB8 mRNA	24849683
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of ITGB8 mRNA	29950665
C009495	titanium dioxide	titanium dioxide results in decreased expression of ITGB8 mRNA	23557971
C009495	titanium dioxide	titanium dioxide results in increased expression of ITGB8 mRNA	30012374
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of ITGB8 mRNA	28065790
C011559	tributyltin	tributyltin results in increased expression of ITGB8 mRNA	29505797
C012589	trichostatin A	trichostatin A results in decreased expression of ITGB8 mRNA	24935251
C012589	trichostatin A	trichostatin A results in increased expression of ITGB8 mRNA	24935251
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of ITGB8 mRNA	19042947
C002802	tungsten carbide	[tungsten carbide co-treated with Cobalt] results in decreased expression of ITGB8 mRNA	18078969
D014635	Valproic Acid	Valproic Acid affects the expression of ITGB8 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of ITGB8 mRNA	23179753; 24935251;
D014635	Valproic Acid	Valproic Acid results in increased expression of ITGB8 mRNA	27188386; 28001369;
D014635	Valproic Acid	Valproic Acid affects the splicing of ITGB8 mRNA	29427782
D014635	Valproic Acid	Valproic Acid results in decreased expression of ITGB8 mRNA	29427782
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of ITGB8 gene	25560391
D014750	Vincristine	Vincristine results in increased expression of ITGB8 mRNA	23649840
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of ITGB8 mRNA	26682919
D015032	Zinc	Zinc results in increased expression of ITGB8 mRNA	18316168

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0130	Cell adhesion
KW-1003	Cell membrane
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0401	Integrin
KW-0472	Membrane
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0677	Repeat
KW-0732	Signal
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR013032	EGF-like_CS
IPR013111	EGF_extracell
IPR033760	Integrin_beta_N
IPR015812	Integrin_bsu
IPR015442	Integrin_bsu-8
IPR002369	Integrin_bsu_VWA
IPR032695	Integrin_dom_sf
IPR016201	PSI
IPR036465	vWFA_dom_sf

PROSITE

PROSITE ID	PROSITE Term
PS00022	EGF_1
PS01186	EGF_2
PS00243	INTEGRIN_BETA

Pfam

Pfam ID	Pfam Term
PF07974	EGF_2
PF00362	Integrin_beta
PF17205	PSI_integrin

Gene: ITGB8

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

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