CleftGeneDB-Search

Gene: ZEB1

Basic information

Tag	Content
Uniprot ID	P37275; B4DJV0; B4DUW9; E9PCM7; F5H4I8; Q12924; Q13800; Q2KJ05; Q5T968; Q5VZ84; Q8NB68;
Entrez ID	6935
Genbank protein ID	BAC03673.1; BAG62481.1; BAA03646.1; BAG58962.1; AAA20602.1; AAI12393.1; EAW85989.1;
Genbank nucleotide ID	NM_001174096.1; NM_030751.5; NM_001174095.1; NM_001128128.2; NM_001174094.1; NM_001174093.1;
Ensembl protein ID	ENSP00000354487; ENSP00000452787; ENSP00000391612; ENSP00000444891; ENSP00000319248;
Ensembl nucleotide ID	ENSG00000148516
Gene name	Zinc finger E-box-binding homeobox 1
Gene symbol	ZEB1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. Represses E-cadherin promoter and induces an epithelial-mesenchymal transition (EMT) by recruiting SMARCA4/BRG1. Represses BCL6 transcription in the presence of the corepressor CTBP1. Positively regulates neuronal differentiation. Represses RCOR1 transcription activation during neurogenesis. Represses transcription by binding to the E box (5'-CANNTG-3'). Promotes tumorigenicity by repressing stemness-inhibiting microRNAs.
Sequence	MADGPRCKRR KQANPRRNNV TNYNTVVETN SDSDDEDKLH IVEEESVTDA ADCEGVPEDD 60 LPTDQTVLPG RSSEREGNAK NCWEDDRKEG QEILGPEAQA DEAGCTVKDD ECESDAENEQ 120 NHDPNVEEFL QQQDTAVIFP EAPEEDQRQG TPEASGHDEN GTPDAFSQLL TCPYCDRGYK 180 RFTSLKEHIK YRHEKNEDNF SCSLCSYTFA YRTQLERHMT SHKSGRDQRH VTQSGCNRKF 240 KCTECGKAFK YKHHLKEHLR IHSGEKPYEC PNCKKRFSHS GSYSSHISSK KCISLIPVNG 300 RPRTGLKTSQ CSSPSLSASP GSPTRPQIRQ KIENKPLQEQ LSVNQIKTEP VDYEFKPIVV 360 ASGINCSTPL QNGVFTGGGP LQATSSPQGM VQAVVLPTVG LVSPISINLS DIQNVLKVAV 420 DGNVIRQVLE NNQANLASKE QETINASPIQ QGGHSVISAI SLPLVDQDGT TKIIINYSLE 480 QPSQLQVVPQ NLKKENPVAT NSCKSEKLPE DLTVKSEKDK SFEGGVNDST CLLCDDCPGD 540 INALPELKHY DLKQPTQPPP LPAAEAEKPE SSVSSATGDG NLSPSQPPLK NLLSLLKAYY 600 ALNAQPSAEE LSKIADSVNL PLDVVKKWFE KMQAGQISVQ SSEPSSPEPG KVNIPAKNND 660 QPQSANANEP QDSTVNLQSP LKMTNSPVLP VGSTTNGSRS STPSPSPLNL SSSRNTQGYL 720 YTAEGAQEEP QVEPLDLSLP KQQGELLERS TITSVYQNSV YSVQEEPLNL SCAKKEPQKD 780 SCVTDSEPVV NVIPPSANPI NIAIPTVTAQ LPTIVAIADQ NSVPCLRALA ANKQTILIPQ 840 VAYTYSTTVS PAVQEPPLKV IQPNGNQDER QDTSSEGVSN VEDQNDSDST PPKKKMRKTE 900 NGMYACDLCD KIFQKSSSLL RHKYEHTGKR PHECGICKKA FKHKHHLIEH MRLHSGEKPY 960 QCDKCGKRFS HSGSYSQHMN HRYSYCKREA EERDSTEQEE AGPEILSNEH VGARASPSQG 1020 DSDERESLTR EEDEDSEKEE EEEDKEMEEL QEEKECEKPQ GDEEEEEEEE EVEEEEVEEA 1080 ENEGEEAKTE GLMKDDRAES QASSLGQKVG ESSEQVSEEK TNEA 1124

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
2E19

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	ZEB1	477966	A0A5F4BPF2			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ZEB1	106502734	A0A452EVD0			Capra hircus	Prediction	More>>
1:1 ortholog	ZEB1	6935	P37275			Homo sapiens	Prediction	More>>
1:1 ortholog	Zeb1	21417	Q64318	CPO,CLP	E11.5, E12.5, E13.5, E14.5	Mus musculus	Publication	More>>
1:1 ortholog	ZEB1	450387	K7CJ20			Pan troglodytes	Prediction	More>>
1:1 ortholog	Zeb1		F8WG35			Rattus norvegicus	Prediction	More>>
1:1 ortholog	zeb1b		F1QPM7			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000579251	p.Met1Ile	missense variant	-	NC_000010.11:g.31319237G>A	ClinVar
rs1212348980	p.Gly4Ser	missense variant	-	NC_000010.11:g.31319244G>A	gnomAD
rs753301298	p.Pro5Ala	missense variant	-	NC_000010.11:g.31319247C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala13Ser	missense variant	-	NC_000010.11:g.31319271G>T	NCI-TCGA
NCI-TCGA novel	p.Ala13Glu	missense variant	-	NC_000010.11:g.31319272C>A	NCI-TCGA
rs757931860	p.Asn19His	missense variant	-	NC_000010.11:g.31319289A>C	ExAC,gnomAD
COSM4013763	p.Asn19Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31319289A>G	NCI-TCGA Cosmic
COSM6065862	p.Asn19Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31319290A>G	NCI-TCGA Cosmic
rs985340759	p.Val20Ile	missense variant	-	NC_000010.11:g.31319292G>A	TOPMed,gnomAD
rs1204510408	p.Thr21Ser	missense variant	-	NC_000010.11:g.31461039A>T	TOPMed
rs767580895	p.Thr21Ile	missense variant	-	NC_000010.11:g.31461040C>T	ExAC,TOPMed,gnomAD
rs1261279600	p.Asn22Lys	missense variant	-	NC_000010.11:g.31461044T>G	TOPMed
rs1335257508	p.Tyr23Phe	missense variant	-	NC_000010.11:g.31461046A>T	TOPMed,gnomAD
rs1335257508	p.Tyr23Cys	missense variant	-	NC_000010.11:g.31461046A>G	TOPMed,gnomAD
COSM684501	p.Tyr23Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31461045T>A	NCI-TCGA Cosmic
rs1244005876	p.Thr25Ser	missense variant	-	NC_000010.11:g.31461052C>G	gnomAD
rs760853422	p.Val26Leu	missense variant	-	NC_000010.11:g.31461054G>C	ExAC,TOPMed,gnomAD
rs375120441	p.Thr29Ala	missense variant	-	NC_000010.11:g.31461063A>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Asp32Asn	missense variant	-	NC_000010.11:g.31461072G>A	NCI-TCGA
rs754149862	p.Ser33Ala	missense variant	-	NC_000010.11:g.31461075T>G	ExAC,TOPMed,gnomAD
rs1452862910	p.Asp34His	missense variant	-	NC_000010.11:g.31461078G>C	TOPMed
rs757485471	p.Asp34Gly	missense variant	-	NC_000010.11:g.31461079A>G	ExAC,gnomAD
rs1181318721	p.Asp35Glu	missense variant	-	NC_000010.11:g.31461083T>A	gnomAD
rs1441663091	p.Asp35His	missense variant	-	NC_000010.11:g.31461081G>C	gnomAD
NCI-TCGA novel	p.Glu36Lys	missense variant	-	NC_000010.11:g.31461084G>A	NCI-TCGA
rs765378809	p.Asp37Val	missense variant	-	NC_000010.11:g.31461088A>T	ExAC,TOPMed,gnomAD
rs765378809	p.Asp37Gly	missense variant	-	NC_000010.11:g.31461088A>G	ExAC,TOPMed,gnomAD
rs1404751391	p.Asp37Asn	missense variant	-	NC_000010.11:g.31461087G>A	TOPMed
rs184444132	p.Lys38Arg	missense variant	-	NC_000010.11:g.31461091A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu39Gln	missense variant	-	NC_000010.11:g.31461094T>A	NCI-TCGA
rs369331715	p.His40Asn	missense variant	-	NC_000010.11:g.31461096C>A	ESP,ExAC,TOPMed,gnomAD
rs1167820112	p.Glu43Lys	missense variant	-	NC_000010.11:g.31461105G>A	TOPMed
rs990850085	p.Glu45Gly	missense variant	-	NC_000010.11:g.31461112A>G	TOPMed,gnomAD
rs1468006781	p.Ser46Gly	missense variant	-	NC_000010.11:g.31461114A>G	gnomAD
rs759313503	p.Asp49Val	missense variant	-	NC_000010.11:g.31461124A>T	ExAC,TOPMed,gnomAD
rs759313503	p.Asp49Gly	missense variant	-	NC_000010.11:g.31461124A>G	ExAC,TOPMed,gnomAD
rs1450935470	p.Ala50Val	missense variant	-	NC_000010.11:g.31461127C>T	gnomAD
rs535982435	p.Ala50Thr	missense variant	-	NC_000010.11:g.31461126G>A	1000Genomes,ExAC,gnomAD
rs748737847	p.Ala51Val	missense variant	-	NC_000010.11:g.31461130C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp52His	missense variant	-	NC_000010.11:g.31461132G>C	NCI-TCGA
rs770735081	p.Cys53Phe	missense variant	-	NC_000010.11:g.31461136G>T	ExAC,gnomAD
rs745709708	p.Gly55Arg	missense variant	-	NC_000010.11:g.31461141G>C	ExAC,gnomAD
rs1449875279	p.Pro57Thr	missense variant	-	NC_000010.11:g.31461147C>A	TOPMed,gnomAD
rs774967314	p.Pro57Leu	missense variant	-	NC_000010.11:g.31461148C>T	ExAC,TOPMed,gnomAD
rs941960318	p.Asp59Gly	missense variant	-	NC_000010.11:g.31461154A>G	TOPMed,gnomAD
rs1201536450	p.Asp59His	missense variant	-	NC_000010.11:g.31461153G>C	gnomAD
rs941960318	p.Asp59Val	missense variant	-	NC_000010.11:g.31461154A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Asp60Tyr	missense variant	-	NC_000010.11:g.31461156G>T	NCI-TCGA
rs776579743	p.Leu61Arg	missense variant	-	NC_000010.11:g.31461160T>G	ExAC,TOPMed,gnomAD
rs1434424475	p.Pro62Ser	missense variant	-	NC_000010.11:g.31461162C>T	gnomAD
rs765467681	p.Gln65Lys	missense variant	-	NC_000010.11:g.31461171C>A	ExAC,TOPMed,gnomAD
rs967420897	p.Val67Met	missense variant	-	NC_000010.11:g.31461177G>A	TOPMed
rs1161810435	p.Pro69Thr	missense variant	-	NC_000010.11:g.31461183C>A	gnomAD
rs1389905301	p.Pro69Leu	missense variant	-	NC_000010.11:g.31461184C>T	gnomAD
rs758828036	p.Gly70Glu	missense variant	-	NC_000010.11:g.31461187G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly70Trp	missense variant	-	NC_000010.11:g.31461186G>T	NCI-TCGA
NCI-TCGA novel	p.Ser72Ile	missense variant	-	NC_000010.11:g.31461193G>T	NCI-TCGA
rs1312443585	p.Ser72Asn	missense variant	-	NC_000010.11:g.31461193G>A	TOPMed
rs1051536569	p.Glu74Lys	missense variant	-	NC_000010.11:g.31461198G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg75Lys	missense variant	-	NC_000010.11:g.31461202G>A	NCI-TCGA
rs1369755728	p.Glu76Lys	missense variant	-	NC_000010.11:g.31461204G>A	gnomAD
NCI-TCGA novel	p.Glu76Ter	stop gained	-	NC_000010.11:g.31461204G>T	NCI-TCGA
rs80194531	p.Asn78Thr	missense variant	Corneal dystrophy, fuchs endothelial, 6 (fecd6)	NC_000010.11:g.31461211A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000013468	p.Asn78Thr	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31461211A>C	ClinVar
rs1301814565	p.Asn81Tyr	missense variant	-	NC_000010.11:g.31461219A>T	gnomAD
rs189276857	p.Asn81Ser	missense variant	-	NC_000010.11:g.31461220A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1329650489	p.Asp85Asn	missense variant	-	NC_000010.11:g.31461231G>A	TOPMed,gnomAD
rs1329650489	p.Asp85Tyr	missense variant	-	NC_000010.11:g.31461231G>T	TOPMed,gnomAD
rs1431720944	p.Glu89Lys	missense variant	-	NC_000010.11:g.31495784G>A	gnomAD
rs12217419	p.Gly90Arg	missense variant	-	NC_000010.11:g.31495787G>A	UniProt,dbSNP
VAR_052731	p.Gly90Arg	missense variant	-	NC_000010.11:g.31495787G>A	UniProt
rs12217419	p.Gly90Arg	missense variant	-	NC_000010.11:g.31495787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs887907985	p.Glu92Gly	missense variant	-	NC_000010.11:g.31495794A>G	TOPMed
rs767954422	p.Leu94Pro	missense variant	-	NC_000010.11:g.31495800T>C	ExAC,gnomAD
COSM3437219	p.Pro96Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31495806C>T	NCI-TCGA Cosmic
rs756898403	p.Ala98Thr	missense variant	-	NC_000010.11:g.31495811G>A	ExAC,TOPMed,gnomAD
rs756898403	p.Ala98Ser	missense variant	-	NC_000010.11:g.31495811G>T	ExAC,TOPMed,gnomAD
COSM3437221	p.Glu102Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31495823G>A	NCI-TCGA Cosmic
rs778555980	p.Ala103Thr	missense variant	-	NC_000010.11:g.31495826G>A	ExAC,gnomAD
rs749898525	p.Gly104Ala	missense variant	-	NC_000010.11:g.31495830G>C	ExAC,gnomAD
COSM917691	p.Gly104Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31495829G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly104Arg	missense variant	-	NC_000010.11:g.31495829G>A	NCI-TCGA
rs367732931	p.Cys105Tyr	missense variant	-	NC_000010.11:g.31495833G>A	ESP,TOPMed
rs367732931	p.Cys105Phe	missense variant	-	NC_000010.11:g.31495833G>T	ESP,TOPMed
rs1338224945	p.Lys108Glu	missense variant	-	NC_000010.11:g.31502350A>G	gnomAD
rs757878118	p.Asp110Asn	missense variant	-	NC_000010.11:g.31502356G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu111Lys	missense variant	-	NC_000010.11:g.31502359G>A	NCI-TCGA
rs369476602	p.Glu113Lys	missense variant	-	NC_000010.11:g.31502365G>A	ESP,ExAC,TOPMed,gnomAD
rs369476602	p.Glu113Gln	missense variant	-	NC_000010.11:g.31502365G>C	ESP,ExAC,TOPMed,gnomAD
COSM684498	p.Glu113Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31502366A>T	NCI-TCGA Cosmic
rs1466405675	p.Glu117Lys	missense variant	-	NC_000010.11:g.31502377G>A	gnomAD
rs747869571	p.Asn118Tyr	missense variant	-	NC_000010.11:g.31502380A>T	ExAC,TOPMed,gnomAD
rs554520869	p.Glu119Lys	missense variant	-	NC_000010.11:g.31502383G>A	ExAC,TOPMed,gnomAD
rs777635832	p.Glu119Gly	missense variant	-	NC_000010.11:g.31502384A>G	ExAC,gnomAD
rs1461383213	p.His122Asp	missense variant	-	NC_000010.11:g.31502392C>G	TOPMed
rs749371907	p.His122Arg	missense variant	-	NC_000010.11:g.31502393A>G	ExAC,TOPMed,gnomAD
rs966128994	p.Pro124Ser	missense variant	-	NC_000010.11:g.31502398C>T	TOPMed
rs771008484	p.Pro124Arg	missense variant	-	NC_000010.11:g.31502399C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu128Gln	missense variant	-	NC_000010.11:g.31502410G>C	NCI-TCGA
rs772364498	p.Gln133Glu	missense variant	-	NC_000010.11:g.31502425C>G	ExAC,TOPMed,gnomAD
rs772364498	p.Gln133Ter	stop gained	-	NC_000010.11:g.31502425C>T	ExAC,TOPMed,gnomAD
COSM3437223	p.Asp134Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31502428G>A	NCI-TCGA Cosmic
rs1479213624	p.Thr135Ile	missense variant	-	NC_000010.11:g.31502432C>T	gnomAD
rs1428046603	p.Val137Ile	missense variant	-	NC_000010.11:g.31502437G>A	gnomAD
COSM3437225	p.Pro140Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31502446C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro140Leu	missense variant	-	NC_000010.11:g.31502447C>T	NCI-TCGA
rs1346683404	p.Pro143Leu	missense variant	-	NC_000010.11:g.31502456C>T	gnomAD
rs1276177849	p.Pro143Ser	missense variant	-	NC_000010.11:g.31502455C>T	gnomAD
NCI-TCGA novel	p.Pro143His	missense variant	-	NC_000010.11:g.31502456C>A	NCI-TCGA
rs1281743768	p.Gln147Arg	missense variant	-	NC_000010.11:g.31502468A>G	gnomAD
rs777173846	p.Arg148Lys	missense variant	-	NC_000010.11:g.31502471G>A	ExAC,TOPMed,gnomAD
rs762410701	p.Gly150Ala	missense variant	-	NC_000010.11:g.31502477G>C	ExAC,gnomAD
rs202218576	p.Thr151Ala	missense variant	-	NC_000010.11:g.31502479A>G	1000Genomes,ExAC,gnomAD
rs985446827	p.Pro152Leu	missense variant	-	NC_000010.11:g.31502483C>T	TOPMed,gnomAD
rs369587040	p.Ser155Ile	missense variant	-	NC_000010.11:g.31502492G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp158Asn	missense variant	-	NC_000010.11:g.31502500G>A	NCI-TCGA
rs554218294	p.Glu159Ala	missense variant	-	NC_000010.11:g.31502504A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs554218294	p.Glu159Gly	missense variant	-	NC_000010.11:g.31502504A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly161Ter	stop gained	-	NC_000010.11:g.31502509G>T	NCI-TCGA
rs1334391538	p.Ala165Pro	missense variant	-	NC_000010.11:g.31510684G>C	gnomAD
NCI-TCGA novel	p.Phe166Val	missense variant	-	NC_000010.11:g.31510687T>G	NCI-TCGA
rs752312798	p.Ser167Leu	missense variant	-	NC_000010.11:g.31510691C>T	ExAC,gnomAD
COSM6129312	p.Ser167Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31510691C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu169Ser	missense variant	-	NC_000010.11:g.31510697T>C	NCI-TCGA
rs755967689	p.Thr171Ala	missense variant	-	NC_000010.11:g.31510702A>G	ExAC,gnomAD
COSM1954951	p.Arg177Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31510721G>C	NCI-TCGA Cosmic
rs1341362800	p.Gly178Ser	missense variant	-	NC_000010.11:g.31510723G>A	gnomAD
rs1249510328	p.Thr183Ile	missense variant	-	NC_000010.11:g.31510739C>T	gnomAD
COSM6129310	p.Leu185Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31510744C>A	NCI-TCGA Cosmic
rs1435892827	p.Glu187Gln	missense variant	-	NC_000010.11:g.31510750G>C	gnomAD
rs1189127426	p.Ile189Val	missense variant	-	NC_000010.11:g.31510756A>G	gnomAD
NCI-TCGA novel	p.Lys190Ter	stop gained	-	NC_000010.11:g.31510759A>T	NCI-TCGA
rs763939117	p.Tyr191Cys	missense variant	-	NC_000010.11:g.31510763A>G	ExAC,gnomAD
rs753521729	p.Arg192His	missense variant	-	NC_000010.11:g.31510766G>A	ExAC,TOPMed,gnomAD
COSM3437227	p.Glu194Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31510771G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu194Lys	missense variant	-	NC_000010.11:g.31510771G>A	NCI-TCGA
rs778679675	p.Lys195Asn	missense variant	-	NC_000010.11:g.31510776G>T	ExAC,gnomAD
rs1462914486	p.Asn196Ser	missense variant	-	NC_000010.11:g.31510778A>G	gnomAD
rs1201102796	p.Glu197Gly	missense variant	-	NC_000010.11:g.31510781A>G	TOPMed
NCI-TCGA novel	p.Asn199Lys	missense variant	-	NC_000010.11:g.31510788C>A	NCI-TCGA
rs1394723254	p.Ser201Cys	missense variant	-	NC_000010.11:g.31510792A>T	gnomAD
rs201419824	p.Leu204Val	missense variant	-	NC_000010.11:g.31510801C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201419824	p.Leu204Met	missense variant	-	NC_000010.11:g.31510801C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs549284707	p.Ser206Gly	missense variant	-	NC_000010.11:g.31510807A>G	1000Genomes,ExAC,gnomAD
rs1487151044	p.Phe209Ser	missense variant	-	NC_000010.11:g.31510817T>C	TOPMed
rs781621732	p.Ala210Ser	missense variant	-	NC_000010.11:g.31510819G>T	ExAC,TOPMed,gnomAD
rs781621732	p.Ala210Thr	missense variant	-	NC_000010.11:g.31510819G>A	ExAC,TOPMed,gnomAD
rs1327135247	p.Ala210Val	missense variant	-	NC_000010.11:g.31510820C>T	gnomAD
rs1250709100	p.Leu215Arg	missense variant	-	NC_000010.11:g.31510835T>G	gnomAD
NCI-TCGA novel	p.Glu216Lys	missense variant	-	NC_000010.11:g.31510837G>A	NCI-TCGA
rs771563543	p.Arg217His	missense variant	-	NC_000010.11:g.31510841G>A	ExAC,gnomAD
rs759082087	p.Arg217Cys	missense variant	-	NC_000010.11:g.31510840C>T	ExAC,TOPMed,gnomAD
rs775177081	p.Met219Ile	missense variant	-	NC_000010.11:g.31510848G>T	ExAC,TOPMed,gnomAD
rs1053577312	p.Thr220Ala	missense variant	-	NC_000010.11:g.31510849A>G	TOPMed,gnomAD
NCI-TCGA novel	p.His222GlnPheSerTerUnk	frameshift	-	NC_000010.11:g.31510856_31510857insG	NCI-TCGA
COSM5721480	p.Gly225Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31510865G>A	NCI-TCGA Cosmic
COSM4013768	p.Arg226Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31510869A>C	NCI-TCGA Cosmic
rs1249297513	p.Asp227His	missense variant	-	NC_000010.11:g.31510870G>C	gnomAD
rs892125653	p.Gln228Glu	missense variant	-	NC_000010.11:g.31510873C>G	TOPMed,gnomAD
rs370082712	p.Thr232Met	missense variant	-	NC_000010.11:g.31514613C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774988589	p.Gln233Arg	missense variant	-	NC_000010.11:g.31514616A>G	ExAC,gnomAD
rs1194974092	p.Cys236Tyr	missense variant	-	NC_000010.11:g.31514625G>A	TOPMed
NCI-TCGA novel	p.Cys236Phe	missense variant	-	NC_000010.11:g.31514625G>T	NCI-TCGA
rs1393017108	p.Arg238His	missense variant	-	NC_000010.11:g.31514631G>A	gnomAD
NCI-TCGA novel	p.Phe240Leu	missense variant	-	NC_000010.11:g.31514638C>A	NCI-TCGA
rs1303709274	p.Lys241Arg	missense variant	-	NC_000010.11:g.31514640A>G	TOPMed,gnomAD
rs1406648850	p.Lys241Glu	missense variant	-	NC_000010.11:g.31514639A>G	gnomAD
rs1266824931	p.Gly246Ala	missense variant	-	NC_000010.11:g.31514655G>C	TOPMed
COSM3437234	p.Lys247Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31514657A>T	NCI-TCGA Cosmic
rs1308963462	p.Ala248Val	missense variant	-	NC_000010.11:g.31514661C>T	gnomAD
rs1490703690	p.Ile261Val	missense variant	-	NC_000010.11:g.31514699A>G	gnomAD
COSM6065856	p.Pro267Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520135C>A	NCI-TCGA Cosmic
COSM917694	p.Cys270Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520144G>A	NCI-TCGA Cosmic
rs1403497398	p.Lys274IleTer	stop gained	-	NC_000010.11:g.31520155_31520156insTTT	gnomAD
rs1172473243	p.Arg276Cys	missense variant	-	NC_000010.11:g.31520161C>T	TOPMed,gnomAD
COSM228131	p.His279Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520170C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser282Phe	missense variant	-	NC_000010.11:g.31520180C>T	NCI-TCGA
COSM684495	p.Tyr283His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520182T>C	NCI-TCGA Cosmic
rs769431660	p.Ile287Val	missense variant	-	NC_000010.11:g.31520194A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys290Asn	missense variant	-	NC_000010.11:g.31520205G>C	NCI-TCGA
rs1379977561	p.Ile293Val	missense variant	-	NC_000010.11:g.31520212A>G	gnomAD
rs370663355	p.Ser294Asn	missense variant	-	NC_000010.11:g.31520216G>A	ESP,ExAC,TOPMed,gnomAD
rs766468773	p.Ser294Arg	missense variant	-	NC_000010.11:g.31520217C>A	ExAC,TOPMed,gnomAD
rs774395615	p.Val298Glu	missense variant	-	NC_000010.11:g.31520228T>A	ExAC,gnomAD
NCI-TCGA novel	p.Val298Ala	missense variant	-	NC_000010.11:g.31520228T>C	NCI-TCGA
rs1265452075	p.Asn299Ser	missense variant	-	NC_000010.11:g.31520231A>G	gnomAD
rs1263636689	p.Arg301Ter	stop gained	-	NC_000010.11:g.31520236C>T	TOPMed
rs767479492	p.Arg301Gln	missense variant	-	NC_000010.11:g.31520237G>A	ExAC,TOPMed,gnomAD
rs752761658	p.Pro302Ser	missense variant	-	NC_000010.11:g.31520239C>T	ExAC,gnomAD
rs1476441129	p.Pro302Arg	missense variant	-	NC_000010.11:g.31520240C>G	gnomAD
rs549453449	p.Arg303Gly	missense variant	-	NC_000010.11:g.31520242A>G	1000Genomes,TOPMed
NCI-TCGA novel	p.Gly305Ter	stop gained	-	NC_000010.11:g.31520248G>T	NCI-TCGA
rs1188131832	p.Thr308Ala	missense variant	-	NC_000010.11:g.31520257A>G	gnomAD
rs1188131832	p.Thr308Ser	missense variant	-	NC_000010.11:g.31520257A>T	gnomAD
COSM73353	p.Thr308Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520258C>T	NCI-TCGA Cosmic
rs1307881589	p.Cys311Tyr	missense variant	-	NC_000010.11:g.31520267G>A	TOPMed
rs756298280	p.Cys311Trp	missense variant	-	NC_000010.11:g.31520268T>G	ExAC,gnomAD
rs764263722	p.Pro314Leu	missense variant	-	NC_000010.11:g.31520276C>T	ExAC,TOPMed,gnomAD
COSM3437237	p.Pro314Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520275C>T	NCI-TCGA Cosmic
COSM917696	p.Leu316Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520282T>G	NCI-TCGA Cosmic
rs779437491	p.Ser317Leu	missense variant	-	NC_000010.11:g.31520285C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser317Ter	stop gained	-	NC_000010.11:g.31520285C>A	NCI-TCGA
rs1449570641	p.Ala318Gly	missense variant	-	NC_000010.11:g.31520288C>G	TOPMed,gnomAD
rs371970352	p.Pro320Ser	missense variant	-	NC_000010.11:g.31520293C>T	TOPMed
rs371970352	p.Pro320Ala	missense variant	-	NC_000010.11:g.31520293C>G	TOPMed
COSM3437239	p.Pro320Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520294C>G	NCI-TCGA Cosmic
COSM3437241	p.Pro323Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520303C>T	NCI-TCGA Cosmic
rs1270335704	p.Thr324Ala	missense variant	-	NC_000010.11:g.31520305A>G	gnomAD
rs866987044	p.Arg325Gln	missense variant	-	NC_000010.11:g.31520309G>A	TOPMed,gnomAD
rs1057518956	p.Arg325Ter	stop gained	-	NC_000010.11:g.31520308C>T	-
RCV000599440	p.Arg325Ter	nonsense	-	NC_000010.11:g.31520308C>T	ClinVar
RCV000415113	p.Arg325Ter	nonsense	Glaucoma	NC_000010.11:g.31520308C>T	ClinVar
rs1285547057	p.Arg329Gln	missense variant	-	NC_000010.11:g.31520321G>A	gnomAD
rs754576407	p.Arg329Trp	missense variant	-	NC_000010.11:g.31520320C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys331Arg	missense variant	-	NC_000010.11:g.31520327A>G	NCI-TCGA
NCI-TCGA novel	p.Lys331Asn	missense variant	-	NC_000010.11:g.31520328G>T	NCI-TCGA
NCI-TCGA novel	p.Lys331Asn	missense variant	-	NC_000010.11:g.31520328G>C	NCI-TCGA
rs747652843	p.Ile332Thr	missense variant	-	NC_000010.11:g.31520330T>C	ExAC,TOPMed,gnomAD
rs1471392809	p.Ile332Met	missense variant	-	NC_000010.11:g.31520331A>G	TOPMed
rs769590621	p.Glu333Lys	missense variant	-	NC_000010.11:g.31520332G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu333Gln	missense variant	-	NC_000010.11:g.31520332G>C	NCI-TCGA
rs1449025160	p.Asn334His	missense variant	-	NC_000010.11:g.31520335A>C	TOPMed,gnomAD
rs1199819193	p.Asn334Ser	missense variant	-	NC_000010.11:g.31520336A>G	TOPMed
rs1449025160	p.Asn334Tyr	missense variant	-	NC_000010.11:g.31520335A>T	TOPMed,gnomAD
rs772976560	p.Lys335Arg	missense variant	-	NC_000010.11:g.31520339A>G	ExAC,TOPMed,gnomAD
rs749135192	p.Lys335Asn	missense variant	-	NC_000010.11:g.31520340A>T	ExAC,gnomAD
rs770841439	p.Pro336Thr	missense variant	-	NC_000010.11:g.31520341C>A	ExAC,gnomAD
rs1191462227	p.Pro336Leu	missense variant	-	NC_000010.11:g.31520342C>T	gnomAD
NCI-TCGA novel	p.Leu337Ile	missense variant	-	NC_000010.11:g.31520344C>A	NCI-TCGA
rs1431090090	p.Gln338Lys	missense variant	-	NC_000010.11:g.31520347C>A	gnomAD
COSM3437243	p.Gln338Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31520347C>T	NCI-TCGA Cosmic
rs1265097124	p.Glu339Ala	missense variant	-	NC_000010.11:g.31520351A>C	TOPMed
COSM1347597	p.Glu339Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520350G>C	NCI-TCGA Cosmic
COSM5487192	p.Gln340Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31520353C>T	NCI-TCGA Cosmic
rs1010332535	p.Leu341Phe	missense variant	-	NC_000010.11:g.31520356C>T	TOPMed
NCI-TCGA novel	p.Gln345Leu	missense variant	-	NC_000010.11:g.31520369A>T	NCI-TCGA
NCI-TCGA novel	p.Ile346Val	missense variant	-	NC_000010.11:g.31520371A>G	NCI-TCGA
rs1261366908	p.Thr348Ile	missense variant	-	NC_000010.11:g.31520378C>T	TOPMed
rs774485268	p.Glu349Gln	missense variant	-	NC_000010.11:g.31520380G>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro350Leu	missense variant	-	NC_000010.11:g.31520384C>T	NCI-TCGA
rs767419782	p.Val351Ala	missense variant	-	NC_000010.11:g.31520387T>C	ExAC,TOPMed,gnomAD
rs367672138	p.Val351Met	missense variant	-	NC_000010.11:g.31520386G>A	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Val351Glu	missense variant	-	NC_000010.11:g.31520387T>A	NCI-TCGA
rs367672138	p.Val351Leu	missense variant	-	NC_000010.11:g.31520386G>C	ESP,TOPMed,gnomAD
rs1318380470	p.Asp352Tyr	missense variant	-	NC_000010.11:g.31520389G>T	gnomAD
rs1318380470	p.Asp352Asn	missense variant	-	NC_000010.11:g.31520389G>A	gnomAD
NCI-TCGA novel	p.Asp352Val	missense variant	-	NC_000010.11:g.31520390A>T	NCI-TCGA
rs148310638	p.Tyr353Phe	missense variant	-	NC_000010.11:g.31520393A>T	ESP,ExAC,TOPMed,gnomAD
rs764352027	p.Ile358Arg	missense variant	-	NC_000010.11:g.31520408T>G	ExAC,gnomAD
rs760761758	p.Ile358Val	missense variant	-	NC_000010.11:g.31520407A>G	ExAC,gnomAD
rs764352027	p.Ile358Thr	missense variant	-	NC_000010.11:g.31520408T>C	ExAC,gnomAD
rs1346473581	p.Val359Leu	missense variant	-	NC_000010.11:g.31520410G>C	gnomAD
rs1223279175	p.Val360Leu	missense variant	-	NC_000010.11:g.31520413G>C	gnomAD
rs192544989	p.Ala361Ser	missense variant	-	NC_000010.11:g.31520416G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM917698	p.Ala361Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520417C>A	NCI-TCGA Cosmic
COSM917699	p.Asn365Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520430C>A	NCI-TCGA Cosmic
rs1353090060	p.Asn365Ser	missense variant	-	NC_000010.11:g.31520429A>G	gnomAD
rs750743692	p.Cys366Arg	missense variant	-	NC_000010.11:g.31520431T>C	ExAC,gnomAD
rs754854286	p.Cys366Ser	missense variant	-	NC_000010.11:g.31520432G>C	-
rs1034554729	p.Thr368Ala	missense variant	-	NC_000010.11:g.31520437A>G	gnomAD
rs758835880	p.Pro369Ala	missense variant	-	NC_000010.11:g.31520440C>G	ExAC,TOPMed,gnomAD
COSM3437247	p.Pro369Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520441C>T	NCI-TCGA Cosmic
COSM3437245	p.Pro369Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520440C>T	NCI-TCGA Cosmic
rs1270963765	p.Gln371Lys	missense variant	-	NC_000010.11:g.31520446C>A	gnomAD
rs780560004	p.Asn372Thr	missense variant	-	NC_000010.11:g.31520450A>C	ExAC,gnomAD
rs1198402275	p.Gly373Arg	missense variant	-	NC_000010.11:g.31520452G>A	gnomAD
rs1244811804	p.Val374Phe	missense variant	-	NC_000010.11:g.31520455G>T	gnomAD
rs752196975	p.Phe375Leu	missense variant	-	NC_000010.11:g.31520458T>C	ExAC,gnomAD
rs747913512	p.Gly377Ala	missense variant	-	NC_000010.11:g.31520465G>C	TOPMed
rs747913512	p.Gly377Asp	missense variant	-	NC_000010.11:g.31520465G>A	TOPMed
rs142232415	p.Ala383Ser	missense variant	-	NC_000010.11:g.31520482G>T	ESP,ExAC,TOPMed,gnomAD
rs1176715857	p.Thr384Ile	missense variant	-	NC_000010.11:g.31520486C>T	TOPMed
rs777635230	p.Ser385Gly	missense variant	-	NC_000010.11:g.31520488A>G	ExAC,gnomAD
rs748931923	p.Ser386Phe	missense variant	-	NC_000010.11:g.31520492C>T	ExAC,gnomAD
rs1435864623	p.Gly389Asp	missense variant	-	NC_000010.11:g.31520501G>A	TOPMed,gnomAD
COSM6065853	p.Met390Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520505G>T	NCI-TCGA Cosmic
rs770647265	p.Val391Met	missense variant	-	NC_000010.11:g.31520506G>A	ExAC,TOPMed
rs1429021087	p.Gln392Lys	missense variant	-	NC_000010.11:g.31520509C>A	TOPMed
rs778575337	p.Ala393Thr	missense variant	-	NC_000010.11:g.31520512G>A	ExAC,gnomAD
rs1021748597	p.Val395Gly	missense variant	-	NC_000010.11:g.31520519T>G	TOPMed
rs1404935644	p.Val395Leu	missense variant	-	NC_000010.11:g.31520518G>C	gnomAD
rs771929681	p.Thr398Ala	missense variant	-	NC_000010.11:g.31520527A>G	ExAC,TOPMed,gnomAD
COSM300929	p.Gly400ValPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31520533G>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly400Val	missense variant	-	NC_000010.11:g.31520534G>T	NCI-TCGA
rs371431986	p.Val402Leu	missense variant	-	NC_000010.11:g.31520539G>C	ESP,ExAC,gnomAD
rs1351511587	p.Ser403Thr	missense variant	-	NC_000010.11:g.31520542T>A	gnomAD
rs146384341	p.Ile405Val	missense variant	-	NC_000010.11:g.31520548A>G	ESP,ExAC,TOPMed,gnomAD
COSM4393133	p.Ile405Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520550A>G	NCI-TCGA Cosmic
rs776898213	p.Asp411Asn	missense variant	-	NC_000010.11:g.31520566G>A	ExAC,gnomAD
rs762037555	p.Asn414His	missense variant	-	NC_000010.11:g.31520575A>C	ExAC,gnomAD
rs138491446	p.Asn414Ser	missense variant	-	NC_000010.11:g.31520576A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu416Ile	missense variant	-	NC_000010.11:g.31520581C>A	NCI-TCGA
rs145576217	p.Lys417Glu	missense variant	-	NC_000010.11:g.31520584A>G	1000Genomes
rs750773172	p.Ala419Val	missense variant	-	NC_000010.11:g.31520591C>T	ExAC,gnomAD
rs1437500395	p.Val420Leu	missense variant	-	NC_000010.11:g.31520593G>T	gnomAD
rs201283071	p.Gly422Cys	missense variant	-	NC_000010.11:g.31520599G>T	ExAC
rs201283071	p.Gly422Arg	missense variant	-	NC_000010.11:g.31520599G>C	ExAC
rs752101790	p.Asn423Asp	missense variant	-	NC_000010.11:g.31520602A>G	ExAC,gnomAD
rs752101790	p.Asn423Tyr	missense variant	-	NC_000010.11:g.31520602A>T	ExAC,gnomAD
COSM917700	p.Asn423Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520603A>G	NCI-TCGA Cosmic
rs1385362551	p.Val424Ala	missense variant	-	NC_000010.11:g.31520606T>C	gnomAD
NCI-TCGA novel	p.Arg426Ser	missense variant	-	NC_000010.11:g.31520613G>T	NCI-TCGA
rs755739832	p.Glu430Asp	missense variant	-	NC_000010.11:g.31520625G>C	ExAC,gnomAD
COSM684494	p.Glu430Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520624A>T	NCI-TCGA Cosmic
COSM917701	p.Glu430Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520625G>T	NCI-TCGA Cosmic
rs1399007467	p.Asn431Asp	missense variant	-	NC_000010.11:g.31520626A>G	gnomAD
rs1410880880	p.Gln433Lys	missense variant	-	NC_000010.11:g.31520632C>A	gnomAD
NCI-TCGA novel	p.Gln433Ter	stop gained	-	NC_000010.11:g.31520632C>T	NCI-TCGA
rs955506837	p.Ala434Val	missense variant	-	NC_000010.11:g.31520636C>T	TOPMed
NCI-TCGA novel	p.Asn435Lys	missense variant	-	NC_000010.11:g.31520640T>G	NCI-TCGA
rs777431447	p.Leu436Val	missense variant	-	NC_000010.11:g.31520641C>G	ExAC,TOPMed,gnomAD
rs777431447	p.Leu436Ile	missense variant	-	NC_000010.11:g.31520641C>A	ExAC,TOPMed,gnomAD
rs148867206	p.Ser438Phe	missense variant	-	NC_000010.11:g.31520648C>T	1000Genomes,ExAC,gnomAD
rs1432181026	p.Lys439Arg	missense variant	-	NC_000010.11:g.31520651A>G	TOPMed
COSM684493	p.Glu440Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520653G>A	NCI-TCGA Cosmic
rs150669496	p.Thr443Ser	missense variant	-	NC_000010.11:g.31520662A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs745702294	p.Ile444Val	missense variant	-	NC_000010.11:g.31520665A>G	ExAC,TOPMed,gnomAD
RCV000598751	p.Ile444Ter	frameshift	-	NC_000010.11:g.31520663_31520666CAAT[1]	ClinVar
rs771873166	p.Asn445Ser	missense variant	-	NC_000010.11:g.31520669A>G	ExAC,TOPMed,gnomAD
rs746935944	p.Pro448Arg	missense variant	-	NC_000010.11:g.31520678C>G	ExAC,gnomAD
rs779926193	p.Pro448Ser	missense variant	-	NC_000010.11:g.31520677C>T	ExAC,gnomAD
rs1257244462	p.Gln451Pro	missense variant	-	NC_000010.11:g.31520687A>C	TOPMed,gnomAD
rs1206386071	p.Gly452Asp	missense variant	-	NC_000010.11:g.31520690G>A	gnomAD
rs776697635	p.Gly453Cys	missense variant	-	NC_000010.11:g.31520692G>T	ExAC,TOPMed,gnomAD
rs761843265	p.Gly453Asp	missense variant	-	NC_000010.11:g.31520693G>A	ExAC,gnomAD
rs769956968	p.His454Arg	missense variant	-	NC_000010.11:g.31520696A>G	ExAC,gnomAD
rs1443499938	p.His454Gln	missense variant	-	NC_000010.11:g.31520697T>A	gnomAD
rs1389414121	p.Val456Leu	missense variant	-	NC_000010.11:g.31520701G>C	TOPMed
rs1375278097	p.Ile460Val	missense variant	-	NC_000010.11:g.31520713A>G	gnomAD
rs1476058862	p.Ser461Gly	missense variant	-	NC_000010.11:g.31520716A>G	gnomAD
NCI-TCGA novel	p.Pro463Thr	missense variant	-	NC_000010.11:g.31520722C>A	NCI-TCGA
rs554451856	p.Leu464Val	missense variant	-	NC_000010.11:g.31520725T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs763293518	p.Asp466Gly	missense variant	-	NC_000010.11:g.31520732A>G	ExAC,gnomAD
rs199595565	p.Ile474Thr	missense variant	-	NC_000010.11:g.31520756T>C	ExAC,gnomAD
rs774794245	p.Ile475Val	missense variant	-	NC_000010.11:g.31520758A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile475Asn	missense variant	-	NC_000010.11:g.31520759T>A	NCI-TCGA
rs760121402	p.Asn476Ser	missense variant	-	NC_000010.11:g.31520762A>G	ExAC,gnomAD
rs1297891888	p.Tyr477Cys	missense variant	-	NC_000010.11:g.31520765A>G	gnomAD
COSM4929637	p.Ser478Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520768G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu479Ile	missense variant	-	NC_000010.11:g.31520770C>A	NCI-TCGA
rs374398055	p.Glu480Gln	missense variant	-	NC_000010.11:g.31520773G>C	ESP,ExAC,TOPMed,gnomAD
rs374398055	p.Glu480Lys	missense variant	-	NC_000010.11:g.31520773G>A	ESP,ExAC,TOPMed,gnomAD
rs753424362	p.Gln481Pro	missense variant	-	NC_000010.11:g.31520777A>C	ExAC,gnomAD
rs1277291486	p.Gln484His	missense variant	-	NC_000010.11:g.31520787A>C	gnomAD
COSM684492	p.Leu485His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520789T>A	NCI-TCGA Cosmic
rs1315865678	p.Leu485Ile	missense variant	-	NC_000010.11:g.31520788C>A	TOPMed,gnomAD
rs1263373946	p.Gln486His	missense variant	-	NC_000010.11:g.31520793A>C	TOPMed,gnomAD
rs575804925	p.Gln486Glu	missense variant	-	NC_000010.11:g.31520791C>G	1000Genomes,ExAC,gnomAD
rs984474944	p.Gln486Arg	missense variant	-	NC_000010.11:g.31520792A>G	TOPMed,gnomAD
rs945716050	p.Val488Phe	missense variant	-	NC_000010.11:g.31520797G>T	TOPMed
rs945716050	p.Val488Ile	missense variant	-	NC_000010.11:g.31520797G>A	TOPMed
NCI-TCGA novel	p.Asn491Ile	missense variant	-	NC_000010.11:g.31520807A>T	NCI-TCGA
rs1041806538	p.Leu492Phe	missense variant	-	NC_000010.11:g.31520811A>T	TOPMed
NCI-TCGA novel	p.Lys493Arg	missense variant	-	NC_000010.11:g.31520813A>G	NCI-TCGA
rs764841328	p.Glu495Ter	stop gained	-	NC_000010.11:g.31520818G>T	ExAC,gnomAD
rs750089468	p.Val498Ala	missense variant	-	NC_000010.11:g.31520828T>C	ExAC,gnomAD
rs1263280380	p.Val498Ile	missense variant	-	NC_000010.11:g.31520827G>A	TOPMed,gnomAD
rs139511659	p.Ala499Thr	missense variant	-	NC_000010.11:g.31520830G>A	ESP,ExAC,TOPMed,gnomAD
rs1481630869	p.Thr500Ala	missense variant	-	NC_000010.11:g.31520833A>G	gnomAD
rs754941595	p.Thr500Lys	missense variant	-	NC_000010.11:g.31520834C>A	ExAC,gnomAD
rs1428844009	p.Ser502Gly	missense variant	-	NC_000010.11:g.31520839A>G	gnomAD
NCI-TCGA novel	p.Ser502Arg	missense variant	-	NC_000010.11:g.31520841T>G	NCI-TCGA
NCI-TCGA novel	p.Lys504Gln	missense variant	-	NC_000010.11:g.31520845A>C	NCI-TCGA
rs1464777836	p.Ser505Asn	missense variant	-	NC_000010.11:g.31520849G>A	gnomAD
COSM4013777	p.Ser505Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520848A>G	NCI-TCGA Cosmic
rs781083816	p.Glu506Ala	missense variant	-	NC_000010.11:g.31520852A>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu508Ser	missense variant	-	NC_000010.11:g.31520858T>C	NCI-TCGA
rs149705490	p.Pro509Leu	missense variant	-	NC_000010.11:g.31520861C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu510Lys	missense variant	-	NC_000010.11:g.31520863G>A	NCI-TCGA
rs774884156	p.Asp511Glu	missense variant	-	NC_000010.11:g.31520868T>A	ExAC,TOPMed,gnomAD
rs770987854	p.Asp511Tyr	missense variant	-	NC_000010.11:g.31520866G>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr513Ala	missense variant	-	NC_000010.11:g.31520872A>G	NCI-TCGA
rs1369708005	p.Val514Gly	missense variant	-	NC_000010.11:g.31520876T>G	TOPMed
COSM6065849	p.Lys515Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520878A>C	NCI-TCGA Cosmic
rs1306014711	p.Ser516Cys	missense variant	-	NC_000010.11:g.31520882C>G	TOPMed
rs1311225653	p.Glu517Asp	missense variant	-	NC_000010.11:g.31520886G>C	gnomAD
COSM4013779	p.Glu517Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520885A>C	NCI-TCGA Cosmic
rs1230655535	p.Asp519Asn	missense variant	-	NC_000010.11:g.31520890G>A	gnomAD
rs759928999	p.Asp519Glu	missense variant	-	NC_000010.11:g.31520892C>A	ExAC
COSM4013781	p.Asp519Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520891A>G	NCI-TCGA Cosmic
COSM684491	p.Lys520Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520895A>C	NCI-TCGA Cosmic
rs768190425	p.Ser521Ile	missense variant	-	NC_000010.11:g.31520897G>T	ExAC,TOPMed,gnomAD
rs564773864	p.Ser521Arg	missense variant	-	NC_000010.11:g.31520898C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1472522029	p.Glu523Lys	missense variant	-	NC_000010.11:g.31520902G>A	TOPMed
NCI-TCGA novel	p.Glu523Gln	missense variant	-	NC_000010.11:g.31520902G>C	NCI-TCGA
rs761300546	p.Gly524Arg	missense variant	-	NC_000010.11:g.31520905G>A	ExAC,gnomAD
rs1006411389	p.Gly524Val	missense variant	-	NC_000010.11:g.31520906G>T	TOPMed
rs1006411389	p.Gly524Ala	missense variant	-	NC_000010.11:g.31520906G>C	TOPMed
NCI-TCGA novel	p.Gly524Trp	missense variant	-	NC_000010.11:g.31520905G>T	NCI-TCGA
VAR_072897	p.Gly525Glu	Missense	-	-	UniProt
rs764794801	p.Val526Met	missense variant	-	NC_000010.11:g.31520911G>A	ExAC,TOPMed,gnomAD
rs764794801	p.Val526Leu	missense variant	-	NC_000010.11:g.31520911G>T	ExAC,TOPMed,gnomAD
rs766305306	p.Val526GlyPheSerTerUnk	frameshift	-	NC_000010.11:g.31520904_31520905insG	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Val526Ter	frameshift	-	NC_000010.11:g.31520905G>-	NCI-TCGA
RCV000499953	p.Val526Ter	frameshift	Corneal dystrophy	NC_000010.11:g.31520911dup	ClinVar
rs1203505833	p.Asp528Gly	missense variant	-	NC_000010.11:g.31520918A>G	TOPMed
COSM917704	p.Leu532Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31520929C>A	NCI-TCGA Cosmic
rs749845204	p.Leu533Val	missense variant	-	NC_000010.11:g.31520932C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu533Met	missense variant	-	NC_000010.11:g.31520932C>A	NCI-TCGA
rs368461324	p.Asp536Tyr	missense variant	-	NC_000010.11:g.31520941G>T	ESP,ExAC,TOPMed
rs578033653	p.Cys537Tyr	missense variant	-	NC_000010.11:g.31520945G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751379750	p.Pro538Arg	missense variant	-	NC_000010.11:g.31520948C>G	ExAC,gnomAD
rs1453156677	p.Asp540His	missense variant	-	NC_000010.11:g.31520953G>C	gnomAD
rs1156996352	p.Ile541Val	missense variant	-	NC_000010.11:g.31520956A>G	gnomAD
NCI-TCGA novel	p.Asn542Ser	missense variant	-	NC_000010.11:g.31520960A>G	NCI-TCGA
rs545220935	p.Pro545Thr	missense variant	-	NC_000010.11:g.31520968C>A	1000Genomes,ExAC,gnomAD
rs1406745202	p.Glu546Asp	missense variant	-	NC_000010.11:g.31520973A>C	gnomAD
NCI-TCGA novel	p.Leu547Ser	missense variant	-	NC_000010.11:g.31520975T>C	NCI-TCGA
rs781172285	p.Tyr550Cys	missense variant	-	NC_000010.11:g.31520984A>G	ExAC,TOPMed,gnomAD
rs35753967	p.Lys553Arg	missense variant	-	NC_000010.11:g.31520993A>G	UniProt,dbSNP
VAR_031824	p.Lys553Arg	missense variant	-	NC_000010.11:g.31520993A>G	UniProt
rs35753967	p.Lys553Arg	missense variant	-	NC_000010.11:g.31520993A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755946563	p.Gln554His	missense variant	-	NC_000010.11:g.31520997G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln557Lys	missense variant	-	NC_000010.11:g.31521004C>A	NCI-TCGA
rs1335764562	p.Pro558Leu	missense variant	-	NC_000010.11:g.31521008C>T	gnomAD
rs777909610	p.Pro558Ser	missense variant	-	NC_000010.11:g.31521007C>T	ExAC,gnomAD
rs1283323958	p.Pro559Ser	missense variant	-	NC_000010.11:g.31521010C>T	gnomAD
rs749284797	p.Pro562Ser	missense variant	-	NC_000010.11:g.31521019C>T	ExAC,TOPMed,gnomAD
rs140611114	p.Pro562Leu	missense variant	-	NC_000010.11:g.31521020C>T	ESP,ExAC,TOPMed,gnomAD
rs774695750	p.Ala563Glu	missense variant	-	NC_000010.11:g.31521023C>A	ExAC,TOPMed,gnomAD
rs774695750	p.Ala563Val	missense variant	-	NC_000010.11:g.31521023C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu565Ter	stop gained	-	NC_000010.11:g.31521028G>T	NCI-TCGA
rs776201320	p.Lys568Glu	missense variant	-	NC_000010.11:g.31521037A>G	ExAC
rs184880161	p.Lys568Asn	missense variant	-	NC_000010.11:g.31521039G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1439376664	p.Pro569Leu	missense variant	-	NC_000010.11:g.31521041C>T	gnomAD
NCI-TCGA novel	p.Pro569Ala	missense variant	-	NC_000010.11:g.31521040C>G	NCI-TCGA
rs1400161566	p.Ser572Cys	missense variant	-	NC_000010.11:g.31521050C>G	TOPMed,gnomAD
rs762322730	p.Ser574Thr	missense variant	-	NC_000010.11:g.31521055T>A	ExAC,gnomAD
rs1426425871	p.Ala576Thr	missense variant	-	NC_000010.11:g.31521061G>A	gnomAD
rs1411548182	p.Thr577Ala	missense variant	-	NC_000010.11:g.31521064A>G	TOPMed
rs766058439	p.Thr577Ile	missense variant	-	NC_000010.11:g.31521065C>T	ExAC,gnomAD
rs1022105607	p.Asp579His	missense variant	-	NC_000010.11:g.31521070G>C	TOPMed
rs1221464692	p.Gly580Asp	missense variant	-	NC_000010.11:g.31521074G>A	TOPMed
rs1456202829	p.Asn581Tyr	missense variant	-	NC_000010.11:g.31521076A>T	TOPMed,gnomAD
rs759380424	p.Asn581Ser	missense variant	-	NC_000010.11:g.31521077A>G	ExAC,TOPMed,gnomAD
rs143542961	p.Leu582Val	missense variant	-	NC_000010.11:g.31521079T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1306407600	p.Ser583Phe	missense variant	-	NC_000010.11:g.31521083C>T	TOPMed,gnomAD
rs752368614	p.Ser583Ala	missense variant	-	NC_000010.11:g.31521082T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser583PhePheSerTerUnk	frameshift	-	NC_000010.11:g.31521083C>-	NCI-TCGA
rs1306407600	p.Ser583Tyr	missense variant	-	NC_000010.11:g.31521083C>A	TOPMed,gnomAD
rs756107761	p.Ser585Thr	missense variant	-	NC_000010.11:g.31521089G>C	ExAC,gnomAD
rs1226913869	p.Gln586Arg	missense variant	-	NC_000010.11:g.31521092A>G	TOPMed,gnomAD
rs999379567	p.Pro587Leu	missense variant	-	NC_000010.11:g.31521095C>T	TOPMed,gnomAD
rs561587775	p.Pro588His	missense variant	-	NC_000010.11:g.31521098C>A	1000Genomes
COSM1702235	p.Asn591Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521106A>T	NCI-TCGA Cosmic
rs375798509	p.Leu592Pro	missense variant	-	NC_000010.11:g.31521110T>C	ESP,ExAC,TOPMed,gnomAD
COSM1470276	p.Leu593Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521112T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu593Val	missense variant	-	NC_000010.11:g.31521112T>G	NCI-TCGA
rs1252311122	p.Ser594Cys	missense variant	-	NC_000010.11:g.31521116C>G	TOPMed,gnomAD
rs1252311122	p.Ser594Phe	missense variant	-	NC_000010.11:g.31521116C>T	TOPMed,gnomAD
COSM917705	p.Ser594Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521116C>A	NCI-TCGA Cosmic
rs1457462399	p.Leu595Phe	missense variant	-	NC_000010.11:g.31521118C>T	gnomAD
rs531904879	p.Ala598Thr	missense variant	-	NC_000010.11:g.31521127G>A	1000Genomes
NCI-TCGA novel	p.Tyr600Ter	stop gained	-	NC_000010.11:g.31521135T>G	NCI-TCGA
rs1222596416	p.Pro606Leu	missense variant	-	NC_000010.11:g.31521152C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser607Gly	missense variant	-	NC_000010.11:g.31521154A>G	NCI-TCGA
NCI-TCGA novel	p.Glu610Lys	missense variant	-	NC_000010.11:g.31521163G>A	NCI-TCGA
NCI-TCGA novel	p.Ser612Leu	missense variant	-	NC_000010.11:g.31521170C>T	NCI-TCGA
NCI-TCGA novel	p.Lys613Gln	missense variant	-	NC_000010.11:g.31521172A>C	NCI-TCGA
rs746075441	p.Ile614Thr	missense variant	-	NC_000010.11:g.31521176T>C	ExAC,TOPMed,gnomAD
rs373879318	p.Ala615Gly	missense variant	-	NC_000010.11:g.31521179C>G	ESP,ExAC,TOPMed,gnomAD
rs747300107	p.Asp616Gly	missense variant	-	NC_000010.11:g.31521182A>G	ExAC,gnomAD
rs762587574	p.Leu622Gln	missense variant	-	NC_000010.11:g.31521200T>A	ExAC,gnomAD
rs762587574	p.Leu622Pro	missense variant	-	NC_000010.11:g.31521200T>C	ExAC,gnomAD
rs1328886562	p.Asp623Asn	missense variant	-	NC_000010.11:g.31521202G>A	gnomAD
rs1200921855	p.Val624Ile	missense variant	-	NC_000010.11:g.31521205G>A	gnomAD
NCI-TCGA novel	p.Lys627SerPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.31521210A>-	NCI-TCGA
NCI-TCGA novel	p.Trp628ValPheSerTerUnk	frameshift	-	NC_000010.11:g.31521209_31521210insA	NCI-TCGA
rs1482060417	p.Phe629Val	missense variant	-	NC_000010.11:g.31521220T>G	gnomAD
rs952856031	p.Met632Thr	missense variant	-	NC_000010.11:g.31521230T>C	TOPMed
rs151017318	p.Gly635Arg	missense variant	-	NC_000010.11:g.31521238G>A	1000Genomes,ExAC,gnomAD
rs1296690351	p.Gln636His	missense variant	-	NC_000010.11:g.31521243G>T	TOPMed,gnomAD
rs760363135	p.Ile637Met	missense variant	-	NC_000010.11:g.31521246T>G	ExAC,gnomAD
COSM40680	p.Ser638Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521248C>T	NCI-TCGA Cosmic
rs764134185	p.Val639Met	missense variant	-	NC_000010.11:g.31521250G>A	ExAC,TOPMed,gnomAD
rs757471555	p.Val639Ala	missense variant	-	NC_000010.11:g.31521251T>C	ExAC,gnomAD
rs764134185	p.Val639Leu	missense variant	-	NC_000010.11:g.31521250G>T	ExAC,TOPMed,gnomAD
rs779148597	p.Gln640His	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31521255G>T	UniProt,dbSNP
VAR_072898	p.Gln640His	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31521255G>T	UniProt
rs779148597	p.Gln640His	missense variant	-	NC_000010.11:g.31521255G>T	ExAC,TOPMed,gnomAD
rs750468738	p.Ser641Phe	missense variant	-	NC_000010.11:g.31521257C>T	ExAC,gnomAD
rs1482211759	p.Ser642Cys	missense variant	-	NC_000010.11:g.31521260C>G	gnomAD
rs961815962	p.Ser645Pro	missense variant	-	NC_000010.11:g.31521268T>C	TOPMed,gnomAD
COSM4839840	p.Ser646Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521272C>A	NCI-TCGA Cosmic
COSM3437254	p.Ser646Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521272C>T	NCI-TCGA Cosmic
rs780092874	p.Pro647Ser	missense variant	-	NC_000010.11:g.31521274C>T	ExAC,gnomAD
rs571773412	p.Glu648Gln	missense variant	-	NC_000010.11:g.31521277G>C	1000Genomes,ExAC,gnomAD
rs768896481	p.Glu648Gly	missense variant	-	NC_000010.11:g.31521278A>G	ExAC,gnomAD
rs370211218	p.Pro649Arg	missense variant	-	NC_000010.11:g.31521281C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370211218	p.Pro649Leu	missense variant	-	NC_000010.11:g.31521281C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781750314	p.Pro649Ala	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31521280C>G	UniProt,dbSNP
VAR_063760	p.Pro649Ala	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31521280C>G	UniProt
rs781750314	p.Pro649Ala	missense variant	-	NC_000010.11:g.31521280C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro649Ser	missense variant	-	NC_000010.11:g.31521280C>T	NCI-TCGA
rs1340216988	p.Lys651Glu	missense variant	-	NC_000010.11:g.31521286A>G	gnomAD
rs745332479	p.Ile654Thr	missense variant	-	NC_000010.11:g.31521296T>C	ExAC,TOPMed,gnomAD
rs774973367	p.Lys657Glu	missense variant	-	NC_000010.11:g.31521304A>G	ExAC,gnomAD
rs151205909	p.Asn658Lys	missense variant	-	NC_000010.11:g.31521309C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn659His	missense variant	-	NC_000010.11:g.31521310A>C	NCI-TCGA
rs150228807	p.Asp660Gly	missense variant	-	NC_000010.11:g.31521314A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1263806535	p.Pro662Arg	missense variant	-	NC_000010.11:g.31521320C>G	gnomAD
rs141110915	p.Ser664Tyr	missense variant	-	NC_000010.11:g.31521326C>A	1000Genomes
NCI-TCGA novel	p.Ala665Val	missense variant	-	NC_000010.11:g.31521329C>T	NCI-TCGA
rs1413142658	p.Asn666Lys	missense variant	-	NC_000010.11:g.31521333T>A	TOPMed
rs765231011	p.Ala667Glu	missense variant	-	NC_000010.11:g.31521335C>A	ExAC,gnomAD
rs765231011	p.Ala667Val	missense variant	-	NC_000010.11:g.31521335C>T	ExAC,gnomAD
rs575916787	p.Asn668Asp	missense variant	-	NC_000010.11:g.31521337A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs758533417	p.Pro670Thr	missense variant	-	NC_000010.11:g.31521343C>A	ExAC,TOPMed,gnomAD
rs766667407	p.Pro670Arg	missense variant	-	NC_000010.11:g.31521344C>G	ExAC,TOPMed,gnomAD
rs758533417	p.Pro670Ser	missense variant	-	NC_000010.11:g.31521343C>T	ExAC,TOPMed,gnomAD
rs947165353	p.Ser673Asn	missense variant	-	NC_000010.11:g.31521353G>A	TOPMed,gnomAD
rs1158797168	p.Thr674Ile	missense variant	-	NC_000010.11:g.31521356C>T	gnomAD
COSM427486	p.Thr674Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521356C>A	NCI-TCGA Cosmic
rs1360435166	p.Val675Glu	missense variant	-	NC_000010.11:g.31521359T>A	gnomAD
rs1418461909	p.Asn676Asp	missense variant	-	NC_000010.11:g.31521361A>G	gnomAD
rs536978134	p.Asn676Thr	missense variant	-	NC_000010.11:g.31521362A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs536978134	p.Asn676Ser	missense variant	-	NC_000010.11:g.31521362A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs267602469	p.Leu677Val	missense variant	-	NC_000010.11:g.31521364C>G	ExAC,gnomAD
rs146821579	p.Gln678His	missense variant	-	NC_000010.11:g.31521369A>C	ESP,ExAC,TOPMed,gnomAD
rs1273301388	p.Ser679Ile	missense variant	-	NC_000010.11:g.31521371G>T	gnomAD
COSM3437258	p.Pro680Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521373C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro680PhePheSerTerUnk	frameshift	-	NC_000010.11:g.31521372_31521373TC>-	NCI-TCGA
rs756636203	p.Leu681Trp	missense variant	-	NC_000010.11:g.31521377T>G	ExAC,TOPMed,gnomAD
rs756636203	p.Leu681Ser	missense variant	-	NC_000010.11:g.31521377T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys682Asn	missense variant	-	NC_000010.11:g.31521381G>T	NCI-TCGA
rs771563761	p.Met683Ile	missense variant	-	NC_000010.11:g.31521384G>T	ExAC,TOPMed,gnomAD
rs558328453	p.Met683Thr	missense variant	-	NC_000010.11:g.31521383T>C	1000Genomes,ExAC,gnomAD
rs776114008	p.Met683Leu	missense variant	-	NC_000010.11:g.31521382A>T	ExAC,TOPMed,gnomAD
rs1214405881	p.Thr684Ser	missense variant	-	NC_000010.11:g.31521386C>G	gnomAD
rs991180993	p.Asn685Asp	missense variant	-	NC_000010.11:g.31521388A>G	TOPMed,gnomAD
rs775271989	p.Ser686Phe	missense variant	-	NC_000010.11:g.31521392C>T	ExAC,gnomAD
rs775271989	p.Ser686Tyr	missense variant	-	NC_000010.11:g.31521392C>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro687Thr	missense variant	-	NC_000010.11:g.31521394C>A	NCI-TCGA
rs1244619463	p.Leu689Ser	missense variant	-	NC_000010.11:g.31521401T>C	TOPMed,gnomAD
rs1470992136	p.Leu689Phe	missense variant	-	NC_000010.11:g.31521402A>T	gnomAD
rs768288824	p.Pro690Leu	missense variant	-	NC_000010.11:g.31521404C>T	ExAC,TOPMed,gnomAD
rs768288824	p.Pro690Arg	missense variant	-	NC_000010.11:g.31521404C>G	ExAC,TOPMed,gnomAD
rs768288824	p.Pro690Gln	missense variant	-	NC_000010.11:g.31521404C>A	ExAC,TOPMed,gnomAD
rs765317194	p.Val691Leu	missense variant	-	NC_000010.11:g.31521406G>T	ExAC,gnomAD
rs765317194	p.Val691Met	missense variant	-	NC_000010.11:g.31521406G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly692Glu	missense variant	-	NC_000010.11:g.31521410G>A	NCI-TCGA
rs897955378	p.Ser693Leu	missense variant	-	NC_000010.11:g.31521413C>T	TOPMed,gnomAD
rs766380256	p.Thr694Ala	missense variant	-	NC_000010.11:g.31521415A>G	ExAC,gnomAD
rs567252241	p.Asn696Ser	missense variant	-	NC_000010.11:g.31521422A>G	ExAC,TOPMed,gnomAD
rs1015763652	p.Ser698Cys	missense variant	-	NC_000010.11:g.31521428C>G	TOPMed,gnomAD
COSM917706	p.Arg699Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521431G>T	NCI-TCGA Cosmic
rs767728746	p.Ser701Gly	missense variant	-	NC_000010.11:g.31521436A>G	ExAC,gnomAD
rs961869387	p.Thr702Ala	missense variant	-	NC_000010.11:g.31521439A>G	TOPMed,gnomAD
rs1237800383	p.Ser704Tyr	missense variant	-	NC_000010.11:g.31521446C>A	gnomAD
rs756437965	p.Ser706Thr	missense variant	-	NC_000010.11:g.31521451T>A	ExAC,TOPMed,gnomAD
rs756437965	p.Ser706Pro	missense variant	-	NC_000010.11:g.31521451T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser712Thr	missense variant	-	NC_000010.11:g.31521469T>A	NCI-TCGA
NCI-TCGA novel	p.Arg714Lys	missense variant	-	NC_000010.11:g.31521476G>A	NCI-TCGA
rs749783810	p.Thr716Ala	missense variant	-	NC_000010.11:g.31521481A>G	ExAC,gnomAD
COSM684489	p.Gln717Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521484C>A	NCI-TCGA Cosmic
rs779435142	p.Gly718Asp	missense variant	-	NC_000010.11:g.31521488G>A	ExAC,TOPMed,gnomAD
rs971827454	p.Gly718Ser	missense variant	-	NC_000010.11:g.31521487G>A	TOPMed
rs779435142	p.Gly718Val	missense variant	-	NC_000010.11:g.31521488G>T	ExAC,TOPMed,gnomAD
rs1437280030	p.Tyr719Cys	missense variant	-	NC_000010.11:g.31521491A>G	gnomAD
NCI-TCGA novel	p.Leu720Ter	stop gained	-	NC_000010.11:g.31521494T>A	NCI-TCGA
NCI-TCGA novel	p.Leu720Phe	missense variant	-	NC_000010.11:g.31521495G>T	NCI-TCGA
COSM917708	p.Tyr721Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31521498C>A	NCI-TCGA Cosmic
rs746487934	p.Thr722Ala	missense variant	-	NC_000010.11:g.31521499A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala723Thr	missense variant	-	NC_000010.11:g.31521502G>A	NCI-TCGA
rs1435186815	p.Glu724Asp	missense variant	-	NC_000010.11:g.31521507G>C	gnomAD
COSM1702237	p.Glu724Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521505G>A	NCI-TCGA Cosmic
rs1199663006	p.Gly725Ser	missense variant	-	NC_000010.11:g.31521508G>A	gnomAD
rs1472784418	p.Gly725Ala	missense variant	-	NC_000010.11:g.31521509G>C	TOPMed,gnomAD
COSM271906	p.Gln727Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521514C>A	NCI-TCGA Cosmic
rs200572671	p.Glu728Asp	missense variant	-	NC_000010.11:g.31521519A>C	ESP,ExAC,TOPMed,gnomAD
rs768220049	p.Glu728Gln	missense variant	-	NC_000010.11:g.31521517G>C	ExAC,gnomAD
rs1223784725	p.Glu729Asp	missense variant	-	NC_000010.11:g.31521522G>T	TOPMed
rs1322408741	p.Pro730Ser	missense variant	-	NC_000010.11:g.31521523C>T	TOPMed
rs1398123792	p.Gln731Arg	missense variant	-	NC_000010.11:g.31521527A>G	gnomAD
rs372597335	p.Val732Gly	missense variant	-	NC_000010.11:g.31521530T>G	ESP,ExAC,TOPMed,gnomAD
rs1226807925	p.Glu733Asp	missense variant	-	NC_000010.11:g.31521534A>C	TOPMed
rs138456617	p.Leu735Val	missense variant	-	NC_000010.11:g.31521538C>G	ESP,ExAC,TOPMed,gnomAD
COSM684488	p.Leu735Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521538C>T	NCI-TCGA Cosmic
rs1340969576	p.Leu739Gln	missense variant	-	NC_000010.11:g.31521551T>A	gnomAD
rs893808879	p.Leu739Ile	missense variant	-	NC_000010.11:g.31521550C>A	TOPMed
COSM917709	p.Pro740Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521553C>T	NCI-TCGA Cosmic
rs1282162939	p.Gly744Arg	missense variant	-	NC_000010.11:g.31521565G>A	gnomAD
COSM3437263	p.Gly744Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521566G>A	NCI-TCGA Cosmic
rs1369187527	p.Leu746Val	missense variant	-	NC_000010.11:g.31521571T>G	TOPMed
rs1218789036	p.Glu748Gln	missense variant	-	NC_000010.11:g.31521577G>C	gnomAD
rs1458928910	p.Ser750Leu	missense variant	-	NC_000010.11:g.31521584C>T	TOPMed
NCI-TCGA novel	p.Ser750Pro	missense variant	-	NC_000010.11:g.31521583T>C	NCI-TCGA
rs138507868	p.Thr751Ala	missense variant	-	NC_000010.11:g.31521586A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774314051	p.Ile752Val	missense variant	-	NC_000010.11:g.31521589A>G	ExAC,TOPMed,gnomAD
rs934500392	p.Thr753Ala	missense variant	-	NC_000010.11:g.31521592A>G	TOPMed
rs1201649107	p.Ser754Ile	missense variant	-	NC_000010.11:g.31521596G>T	gnomAD
rs1442305549	p.Tyr756Cys	missense variant	-	NC_000010.11:g.31521602A>G	gnomAD
rs1035424862	p.Gln757His	missense variant	-	NC_000010.11:g.31521606G>C	gnomAD
rs767671906	p.Ser759Asn	missense variant	-	NC_000010.11:g.31521611G>A	ExAC,TOPMed,gnomAD
rs767671906	p.Ser759Thr	missense variant	-	NC_000010.11:g.31521611G>C	ExAC,TOPMed,gnomAD
rs200667415	p.Tyr761His	missense variant	-	NC_000010.11:g.31521616T>C	1000Genomes
NCI-TCGA novel	p.Ser762Phe	missense variant	-	NC_000010.11:g.31521620C>T	NCI-TCGA
rs752911356	p.Val763Ala	missense variant	-	NC_000010.11:g.31521623T>C	ExAC,gnomAD
rs376963555	p.Gln764Arg	missense variant	-	NC_000010.11:g.31521626A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu766ArgPheSerTerUnkUnk	frameshift	-	NC_000010.11:g.31521630_31521631insAGGTTTAGAG	NCI-TCGA
NCI-TCGA novel	p.Ser771Phe	missense variant	-	NC_000010.11:g.31521647C>T	NCI-TCGA
rs143340752	p.Cys772Ter	stop gained	-	NC_000010.11:g.31521651C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1369268866	p.Cys772Arg	missense variant	-	NC_000010.11:g.31521649T>C	gnomAD
NCI-TCGA novel	p.Cys772Phe	missense variant	-	NC_000010.11:g.31521650G>T	NCI-TCGA
rs201927623	p.Ala773Val	missense variant	-	NC_000010.11:g.31521653C>T	TOPMed,gnomAD
rs201927623	p.Ala773Glu	missense variant	-	NC_000010.11:g.31521653C>A	TOPMed,gnomAD
rs754135071	p.Ala773Thr	missense variant	-	NC_000010.11:g.31521652G>A	ExAC,gnomAD
COSM1347600	p.Ala773Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521652G>T	NCI-TCGA Cosmic
rs757736270	p.Lys774Glu	missense variant	-	NC_000010.11:g.31521655A>G	ExAC,gnomAD
rs867046059	p.Glu776Lys	missense variant	-	NC_000010.11:g.31521661G>A	-
COSM5703571	p.Glu776GlyPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31521653_31521654insA	NCI-TCGA Cosmic
COSM6129306	p.Pro777Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521664C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln778His	missense variant	-	NC_000010.11:g.31521669A>C	NCI-TCGA
rs1488150084	p.Lys779Gln	missense variant	-	NC_000010.11:g.31521670A>C	TOPMed
COSM3437267	p.Asp780His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521673G>C	NCI-TCGA Cosmic
rs751082362	p.Ser781Thr	missense variant	-	NC_000010.11:g.31521677G>C	ExAC,gnomAD
rs751082362	p.Ser781Asn	missense variant	-	NC_000010.11:g.31521677G>A	ExAC,gnomAD
rs779430575	p.Ser781Arg	missense variant	-	NC_000010.11:g.31521676A>C	ExAC,gnomAD
rs550539833	p.Asp785Gly	missense variant	-	NC_000010.11:g.31521689A>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM4536881	p.Asp785Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521688G>A	NCI-TCGA Cosmic
COSM6129304	p.Glu787Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521694G>C	NCI-TCGA Cosmic
rs1230453865	p.Pro788Ser	missense variant	-	NC_000010.11:g.31521697C>T	TOPMed,gnomAD
rs1230453865	p.Pro788Ala	missense variant	-	NC_000010.11:g.31521697C>G	TOPMed,gnomAD
rs747813271	p.Ile793Val	missense variant	-	NC_000010.11:g.31521712A>G	ExAC,gnomAD
COSM4013783	p.Ile793Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521713T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile793Thr	missense variant	-	NC_000010.11:g.31521713T>C	NCI-TCGA
rs963030640	p.Pro794Ser	missense variant	-	NC_000010.11:g.31521715C>T	-
NCI-TCGA novel	p.Pro794Ala	missense variant	-	NC_000010.11:g.31521715C>G	NCI-TCGA
NCI-TCGA novel	p.Pro795LeuPheSerTerUnk	frameshift	-	NC_000010.11:g.31521718_31521719insTGGTAAAA	NCI-TCGA
NCI-TCGA novel	p.Pro795LeuPheSerTerUnk	frameshift	-	NC_000010.11:g.31521718_31521719insTGGTA	NCI-TCGA
NCI-TCGA novel	p.Pro795Gln	missense variant	-	NC_000010.11:g.31521719C>A	NCI-TCGA
rs552081232	p.Ser796Arg	missense variant	-	NC_000010.11:g.31521723T>G	gnomAD
rs565466253	p.Asn798Lys	missense variant	-	NC_000010.11:g.31521729C>A	1000Genomes
rs777737619	p.Pro799Ala	missense variant	-	NC_000010.11:g.31521730C>G	ExAC,gnomAD
rs1049711305	p.Ile800Val	missense variant	-	NC_000010.11:g.31521733A>G	TOPMed
rs762105480	p.Ile802Thr	missense variant	-	NC_000010.11:g.31521740T>C	gnomAD
rs148358382	p.Ala803Thr	missense variant	-	NC_000010.11:g.31521742G>A	ESP,ExAC,TOPMed,gnomAD
rs1577181	p.Ile804Thr	missense variant	-	NC_000010.11:g.31521746T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs141194628	p.Thr806Ala	missense variant	-	NC_000010.11:g.31521751A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala809Thr	missense variant	-	NC_000010.11:g.31521760G>A	NCI-TCGA
rs199944415	p.Gln810Arg	missense variant	-	NC_000010.11:g.31521764A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs760893051	p.Gln810Glu	missense variant	-	NC_000010.11:g.31521763C>G	ExAC,gnomAD
rs199944415	p.Gln810Pro	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31521764A>C	UniProt,dbSNP
VAR_063761	p.Gln810Pro	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31521764A>C	UniProt
rs199944415	p.Gln810Pro	missense variant	-	NC_000010.11:g.31521764A>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM3437270	p.Pro812Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521770C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro812Thr	missense variant	-	NC_000010.11:g.31521769C>A	NCI-TCGA
rs757970056	p.Ile814Val	missense variant	-	NC_000010.11:g.31521775A>G	TOPMed,gnomAD
rs547762784	p.Val815Met	missense variant	-	NC_000010.11:g.31521778G>A	1000Genomes,ExAC,gnomAD
rs1301553502	p.Val823Phe	missense variant	-	NC_000010.11:g.31521802G>T	TOPMed,gnomAD
rs1301553502	p.Val823Leu	missense variant	-	NC_000010.11:g.31521802G>C	TOPMed,gnomAD
rs780851334	p.Pro824Ser	missense variant	-	NC_000010.11:g.31521805C>T	ExAC,gnomAD
rs1466315024	p.Cys825Ser	missense variant	-	NC_000010.11:g.31521808T>A	TOPMed
rs752212757	p.Ala828Pro	missense variant	-	NC_000010.11:g.31521817G>C	ExAC,TOPMed,gnomAD
rs752212757	p.Ala828Thr	missense variant	-	NC_000010.11:g.31521817G>A	ExAC,TOPMed,gnomAD
rs752212757	p.Ala828Ser	missense variant	-	NC_000010.11:g.31521817G>T	ExAC,TOPMed,gnomAD
COSM1347602	p.Ala828Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521818C>T	NCI-TCGA Cosmic
rs749076556	p.Leu829Val	missense variant	-	NC_000010.11:g.31521820C>G	ExAC,gnomAD
rs1284262566	p.Ala830Pro	missense variant	-	NC_000010.11:g.31521823G>C	gnomAD
rs757070078	p.Ala830Asp	missense variant	-	NC_000010.11:g.31521824C>A	ExAC,gnomAD
rs778771729	p.Ala831Asp	missense variant	-	NC_000010.11:g.31521827C>A	ExAC,gnomAD
rs745829658	p.Asn832Lys	missense variant	-	NC_000010.11:g.31521831T>A	ExAC,TOPMed,gnomAD
rs771931451	p.Lys833Glu	missense variant	-	NC_000010.11:g.31521832A>G	ExAC,TOPMed,gnomAD
rs771931451	p.Lys833Gln	missense variant	-	NC_000010.11:g.31521832A>C	ExAC,TOPMed,gnomAD
rs558439835	p.Leu837Arg	missense variant	-	NC_000010.11:g.31521845T>G	1000Genomes,ExAC,gnomAD
rs978671338	p.Ile838Asn	missense variant	-	NC_000010.11:g.31521848T>A	TOPMed
rs118020901	p.Gln840Pro	missense variant	Corneal dystrophy, fuchs endothelial, 6 (fecd6)	NC_000010.11:g.31521854A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs118020901	p.Gln840Arg	missense variant	Corneal dystrophy, fuchs endothelial, 6 (fecd6)	NC_000010.11:g.31521854A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000013469	p.Gln840Pro	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31521854A>C	ClinVar
COSM1347603	p.Gln840His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521855G>T	NCI-TCGA Cosmic
rs776885703	p.Ala842Thr	missense variant	-	NC_000010.11:g.31521859G>A	ExAC,TOPMed,gnomAD
rs1459247481	p.Tyr843Cys	missense variant	-	NC_000010.11:g.31521863A>G	gnomAD
NCI-TCGA novel	p.Tyr843His	missense variant	-	NC_000010.11:g.31521862T>C	NCI-TCGA
rs1365284074	p.Thr844Ala	missense variant	-	NC_000010.11:g.31521865A>G	TOPMed
rs1035483754	p.Tyr845Ser	missense variant	-	NC_000010.11:g.31521869A>C	TOPMed,gnomAD
rs1384759849	p.Thr847Ala	missense variant	-	NC_000010.11:g.31521874A>G	gnomAD
rs759615272	p.Thr848Met	missense variant	-	NC_000010.11:g.31521878C>T	ExAC,TOPMed,gnomAD
rs763545266	p.Ser850Ile	missense variant	-	NC_000010.11:g.31521884G>T	ExAC,gnomAD
COSM3437273	p.Ser850Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521884G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro851Ser	missense variant	-	NC_000010.11:g.31521886C>T	NCI-TCGA
rs139581793	p.Gln854Lys	missense variant	-	NC_000010.11:g.31521895C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs932738732	p.Gln854Arg	missense variant	-	NC_000010.11:g.31521896A>G	TOPMed,gnomAD
COSM4013785	p.Gln854His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521897A>C	NCI-TCGA Cosmic
COSM6129302	p.Glu855Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31521899A>C	NCI-TCGA Cosmic
rs554201038	p.Leu858Phe	missense variant	-	NC_000010.11:g.31521909G>C	1000Genomes,ExAC,gnomAD
rs1200777635	p.Ile861Asn	missense variant	-	NC_000010.11:g.31521917T>A	gnomAD
rs267602470	p.Ile861Met	missense variant	-	NC_000010.11:g.31521918C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile861Thr	missense variant	-	NC_000010.11:g.31521917T>C	NCI-TCGA
rs1463677279	p.Gln862Lys	missense variant	-	NC_000010.11:g.31521919C>A	TOPMed
rs202145455	p.Pro863Arg	missense variant	-	NC_000010.11:g.31521923C>G	1000Genomes,ExAC
rs202145455	p.Pro863Leu	missense variant	-	NC_000010.11:g.31521923C>T	1000Genomes,ExAC
rs756800827	p.Pro863Thr	missense variant	-	NC_000010.11:g.31521922C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asn864Ser	missense variant	-	NC_000010.11:g.31521926A>G	NCI-TCGA
rs745612409	p.Asn866Ser	missense variant	-	NC_000010.11:g.31521932A>G	ExAC,gnomAD
rs1046992544	p.Asp868Gly	missense variant	-	NC_000010.11:g.31523934A>G	TOPMed
NCI-TCGA novel	p.Asp868Asn	missense variant	-	NC_000010.11:g.31523933G>A	NCI-TCGA
COSM5890552	p.Glu869Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31523936G>A	NCI-TCGA Cosmic
rs763672095	p.Asp872His	missense variant	-	NC_000010.11:g.31523945G>C	ExAC,gnomAD
rs1231871221	p.Asp872Val	missense variant	-	NC_000010.11:g.31523946A>T	TOPMed
rs369581136	p.Thr873Ala	missense variant	-	NC_000010.11:g.31523948A>G	ESP,ExAC,TOPMed,gnomAD
rs369581136	p.Thr873Ser	missense variant	-	NC_000010.11:g.31523948A>T	ESP,ExAC,TOPMed,gnomAD
COSM6129300	p.Ser875Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31523955C>A	NCI-TCGA Cosmic
rs1223771812	p.Glu876Lys	missense variant	-	NC_000010.11:g.31523957G>A	TOPMed
rs1302778137	p.Gly877Arg	missense variant	-	NC_000010.11:g.31523960G>A	gnomAD
NCI-TCGA novel	p.Gly877Ter	stop gained	-	NC_000010.11:g.31523960G>T	NCI-TCGA
rs1027441392	p.Val878Ile	missense variant	-	NC_000010.11:g.31523963G>A	gnomAD
rs1370510238	p.Val878Gly	missense variant	-	NC_000010.11:g.31523964T>G	TOPMed
NCI-TCGA novel	p.Val878Leu	missense variant	-	NC_000010.11:g.31523963G>T	NCI-TCGA
COSM4013789	p.Gln884His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31523983G>C	NCI-TCGA Cosmic
rs750281534	p.Asp886Gly	missense variant	-	NC_000010.11:g.31523988A>G	ExAC,gnomAD
rs1393302497	p.Thr890Ile	missense variant	-	NC_000010.11:g.31524000C>T	TOPMed
rs143370284	p.Thr890Pro	missense variant	-	NC_000010.11:g.31523999A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369330183	p.Pro891Gln	missense variant	-	NC_000010.11:g.31524003C>A	ESP,ExAC,TOPMed,gnomAD
rs369330183	p.Pro891Leu	missense variant	-	NC_000010.11:g.31524003C>T	ESP,ExAC,TOPMed,gnomAD
rs754854883	p.Pro892Ala	missense variant	-	NC_000010.11:g.31524005C>G	ExAC,gnomAD
rs781360863	p.Lys893Arg	missense variant	-	NC_000010.11:g.31524009A>G	ExAC,TOPMed,gnomAD
rs781360863	p.Lys893Ile	missense variant	-	NC_000010.11:g.31524009A>T	ExAC,TOPMed,gnomAD
rs748125873	p.Lys894Thr	missense variant	-	NC_000010.11:g.31524012A>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys894Asn	missense variant	-	NC_000010.11:g.31524013G>T	NCI-TCGA
rs905064760	p.Met896Leu	missense variant	-	NC_000010.11:g.31524017A>T	TOPMed
rs777824092	p.Met896Arg	missense variant	-	NC_000010.11:g.31524018T>G	ExAC,gnomAD
rs1263670005	p.Arg897Trp	missense variant	-	NC_000010.11:g.31524020C>T	gnomAD
rs35653460	p.Arg897Gln	missense variant	-	NC_000010.11:g.31524021G>A	ESP,ExAC,TOPMed,gnomAD
COSM3985582	p.Arg897Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31524021G>T	NCI-TCGA Cosmic
rs1184416010	p.Thr899Ile	missense variant	-	NC_000010.11:g.31524027C>T	gnomAD
NCI-TCGA novel	p.Glu900Asp	missense variant	-	NC_000010.11:g.31524031A>T	NCI-TCGA
rs771407868	p.Asn901Asp	missense variant	-	NC_000010.11:g.31524032A>G	ExAC,gnomAD
rs184220160	p.Met903Val	missense variant	-	NC_000010.11:g.31524038A>G	1000Genomes,ExAC
rs1212127716	p.Tyr904Cys	missense variant	-	NC_000010.11:g.31524042A>G	TOPMed
rs78449005	p.Ala905Gly	missense variant	-	NC_000010.11:g.31524045C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs78449005	p.Ala905Gly	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31524045C>G	UniProt,dbSNP
VAR_072900	p.Ala905Gly	missense variant	Corneal dystrophy, Fuchs endothelial, 6 (FECD6)	NC_000010.11:g.31524045C>G	UniProt
COSM917713	p.Ala905Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31524045C>A	NCI-TCGA Cosmic
COSM684487	p.Ala905Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31524044G>C	NCI-TCGA Cosmic
VAR_063763	p.Ala905Thr	Missense	Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]	-	UniProt
rs776228676	p.Cys906Arg	missense variant	-	NC_000010.11:g.31524047T>C	ExAC
NCI-TCGA novel	p.Cys906Ser	missense variant	-	NC_000010.11:g.31524048G>C	NCI-TCGA
rs1374156498	p.Asp907Gly	missense variant	-	NC_000010.11:g.31524051A>G	gnomAD
rs1422109520	p.Leu908Phe	missense variant	-	NC_000010.11:g.31524055G>T	gnomAD
rs761206667	p.Phe913Leu	missense variant	-	NC_000010.11:g.31524070C>A	ExAC,TOPMed,gnomAD
rs764981454	p.Gln914Arg	missense variant	-	NC_000010.11:g.31524072A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln914Pro	missense variant	-	NC_000010.11:g.31524072A>C	NCI-TCGA
rs750075928	p.Ser916Ile	missense variant	-	NC_000010.11:g.31524078G>T	ExAC,gnomAD
rs1368644612	p.Leu920Phe	missense variant	-	NC_000010.11:g.31524091G>T	gnomAD
rs1009525977	p.Tyr924His	missense variant	-	NC_000010.11:g.31524101T>C	TOPMed
rs1234398582	p.His926Tyr	missense variant	-	NC_000010.11:g.31524107C>T	TOPMed
rs1158946120	p.Gly928Asp	missense variant	-	NC_000010.11:g.31526672G>A	TOPMed,gnomAD
rs1409287175	p.Lys929Glu	missense variant	-	NC_000010.11:g.31526674A>G	gnomAD
rs370801976	p.His932Tyr	missense variant	-	NC_000010.11:g.31526683C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His932Arg	missense variant	-	NC_000010.11:g.31526684A>G	NCI-TCGA
NCI-TCGA novel	p.Glu933Asp	missense variant	-	NC_000010.11:g.31526688G>T	NCI-TCGA
rs1352966657	p.Gly935Arg	missense variant	-	NC_000010.11:g.31526692G>A	gnomAD
rs538280043	p.Ala940Val	missense variant	-	NC_000010.11:g.31526708C>T	1000Genomes,ExAC,gnomAD
rs1358076316	p.Ala940Thr	missense variant	-	NC_000010.11:g.31526707G>A	gnomAD
NCI-TCGA novel	p.Ala940Pro	missense variant	-	NC_000010.11:g.31526707G>C	NCI-TCGA
rs1267931152	p.His943Tyr	missense variant	-	NC_000010.11:g.31526716C>T	TOPMed
rs1220402975	p.Leu947Val	missense variant	-	NC_000010.11:g.31526728T>G	gnomAD
rs907060173	p.Ile948Val	missense variant	-	NC_000010.11:g.31526731A>G	TOPMed,gnomAD
rs761453640	p.Ile948Thr	missense variant	-	NC_000010.11:g.31526732T>C	ExAC,gnomAD
RCV000394875	p.Ile948Ter	frameshift	-	NC_000010.11:g.31526728_31526731TTGA[1]	ClinVar
rs374536300	p.Met951Thr	missense variant	-	NC_000010.11:g.31526741T>C	ESP,ExAC,TOPMed,gnomAD
rs1178786891	p.Arg952Gln	missense variant	-	NC_000010.11:g.31526744G>A	gnomAD
COSM267790	p.Arg952Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31526743C>T	NCI-TCGA Cosmic
rs1402239665	p.His954Arg	missense variant	-	NC_000010.11:g.31526750A>G	TOPMed
COSM4405865	p.His954Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31526751T>G	NCI-TCGA Cosmic
COSM3437284	p.Gly956Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31526755G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu957Ter	stop gained	-	NC_000010.11:g.31526758G>T	NCI-TCGA
NCI-TCGA novel	p.Lys958Met	missense variant	-	NC_000010.11:g.31526762A>T	NCI-TCGA
rs772653927	p.Pro959Ala	missense variant	-	NC_000010.11:g.31526764C>G	ExAC,gnomAD
rs1002948043	p.Gln961Glu	missense variant	-	NC_000010.11:g.31526770C>G	TOPMed
COSM4841694	p.Gln961Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31526770C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys962Ser	missense variant	-	NC_000010.11:g.31526774G>C	NCI-TCGA
rs149757409	p.Asp963Asn	missense variant	-	NC_000010.11:g.31526776G>A	ESP,ExAC,TOPMed,gnomAD
COSM917714	p.Asp963Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31526777A>G	NCI-TCGA Cosmic
rs765964382	p.Lys964Thr	missense variant	-	NC_000010.11:g.31526780A>C	ExAC,TOPMed,gnomAD
rs765964382	p.Lys964Arg	missense variant	-	NC_000010.11:g.31526780A>G	ExAC,TOPMed,gnomAD
COSM6129296	p.Lys964Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31526779A>T	NCI-TCGA Cosmic
rs751401795	p.Arg968Cys	missense variant	-	NC_000010.11:g.31526791C>T	ExAC,gnomAD
rs1327333599	p.Arg968His	missense variant	-	NC_000010.11:g.31526792G>A	TOPMed,gnomAD
rs1404922905	p.Phe969Ile	missense variant	-	NC_000010.11:g.31526794T>A	gnomAD
rs1324134113	p.Gly973Arg	missense variant	-	NC_000010.11:g.31526806G>A	gnomAD
rs1183267878	p.Gly973Ala	missense variant	-	NC_000010.11:g.31526807G>C	TOPMed
rs1460244283	p.Tyr975Cys	missense variant	-	NC_000010.11:g.31526813A>G	TOPMed
NCI-TCGA novel	p.Gln977Ter	stop gained	-	NC_000010.11:g.31526818C>T	NCI-TCGA
rs1240441304	p.His978Asp	missense variant	-	NC_000010.11:g.31526821C>G	TOPMed
rs759218345	p.Met979Thr	missense variant	-	NC_000010.11:g.31526825T>C	ExAC,gnomAD
NCI-TCGA novel	p.Met979Ile	missense variant	-	NC_000010.11:g.31526826G>A	NCI-TCGA
rs767554776	p.Asn980Ser	missense variant	-	NC_000010.11:g.31526828A>G	ExAC,gnomAD
rs554002482	p.Arg982Cys	missense variant	-	NC_000010.11:g.31526833C>T	1000Genomes,ExAC,gnomAD
rs1439976922	p.Ser984Phe	missense variant	-	NC_000010.11:g.31526840C>T	gnomAD
NCI-TCGA novel	p.Tyr985Asn	missense variant	-	NC_000010.11:g.31526842T>A	NCI-TCGA
rs779888285	p.Ala990Glu	missense variant	-	NC_000010.11:g.31526858C>A	ExAC,TOPMed,gnomAD
rs779888285	p.Ala990Val	missense variant	-	NC_000010.11:g.31526858C>T	ExAC,TOPMed,gnomAD
rs1270882179	p.Glu991Ala	missense variant	-	NC_000010.11:g.31526861A>C	gnomAD
rs1319631948	p.Glu992Ter	stop gained	-	NC_000010.11:g.31526863G>T	gnomAD
rs757576520	p.Arg993His	missense variant	-	NC_000010.11:g.31526867G>A	ExAC,gnomAD
rs753928852	p.Arg993Cys	missense variant	-	NC_000010.11:g.31526866C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp994Asn	missense variant	-	NC_000010.11:g.31526869G>A	NCI-TCGA
rs371696203	p.Ser995Gly	missense variant	-	NC_000010.11:g.31526872A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr996Ile	missense variant	-	NC_000010.11:g.31526876C>T	NCI-TCGA
rs1208587856	p.Gln998Leu	missense variant	-	NC_000010.11:g.31526882A>T	gnomAD
rs1313880844	p.Glu999Gln	missense variant	-	NC_000010.11:g.31526884G>C	TOPMed
COSM427490	p.Ala1001Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31526891C>T	NCI-TCGA Cosmic
rs1041866704	p.Ser1007Leu	missense variant	-	NC_000010.11:g.31526909C>T	gnomAD
COSM6129294	p.His1010Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31526917C>A	NCI-TCGA Cosmic
COSM917715	p.His1010Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31526919C>A	NCI-TCGA Cosmic
rs773986137	p.Val1011Gly	missense variant	-	NC_000010.11:g.31526921T>G	ExAC,TOPMed,gnomAD
rs148446855	p.Val1011Leu	missense variant	-	NC_000010.11:g.31526920G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148446855	p.Val1011Met	missense variant	-	NC_000010.11:g.31526920G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1341063159	p.Gly1012Val	missense variant	-	NC_000010.11:g.31526924G>T	TOPMed,gnomAD
rs1413931094	p.Ala1013Thr	missense variant	-	NC_000010.11:g.31526926G>A	gnomAD
rs1414691625	p.Arg1014Ser	missense variant	-	NC_000010.11:g.31526931G>C	TOPMed
rs767228225	p.Ala1015Val	missense variant	-	NC_000010.11:g.31526933C>T	ExAC,gnomAD
rs1250208239	p.Ser1016Phe	missense variant	-	NC_000010.11:g.31526936C>T	gnomAD
rs200238558	p.Ser1018Leu	missense variant	-	NC_000010.11:g.31526942C>T	1000Genomes,gnomAD
rs142629102	p.Asp1021Asn	missense variant	-	NC_000010.11:g.31526950G>A	ESP,TOPMed
rs575874753	p.Ser1022Pro	missense variant	-	NC_000010.11:g.31526953T>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM917716	p.Ser1022Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31526954C>T	NCI-TCGA Cosmic
COSM465602	p.Ser1022Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31526954C>A	NCI-TCGA Cosmic
rs1265837449	p.Asp1023Ala	missense variant	-	NC_000010.11:g.31526957A>C	gnomAD
NCI-TCGA novel	p.Asp1023His	missense variant	-	NC_000010.11:g.31526956G>C	NCI-TCGA
rs975831124	p.Glu1024Lys	missense variant	-	NC_000010.11:g.31526959G>A	TOPMed
rs757381658	p.Glu1026Ala	missense variant	-	NC_000010.11:g.31526966A>C	ExAC,gnomAD
rs757381658	p.Glu1026Val	missense variant	-	NC_000010.11:g.31526966A>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu1026Lys	missense variant	-	NC_000010.11:g.31526965G>A	NCI-TCGA
rs750598354	p.Thr1029Ile	missense variant	-	NC_000010.11:g.31526975C>T	ExAC,gnomAD
rs750598354	p.Thr1029Arg	missense variant	-	NC_000010.11:g.31526975C>G	ExAC,gnomAD
rs1006195314	p.Glu1031Asp	missense variant	-	NC_000010.11:g.31526982A>T	TOPMed
rs780291714	p.Glu1031Lys	missense variant	-	NC_000010.11:g.31526980G>A	ExAC,gnomAD
rs145633572	p.Glu1031Val	missense variant	-	NC_000010.11:g.31526981A>T	ESP,gnomAD
rs747363059	p.Glu1032Asp	missense variant	-	NC_000010.11:g.31526985G>C	ExAC,TOPMed
rs755483826	p.Asp1033Asn	missense variant	-	NC_000010.11:g.31526986G>A	ExAC,gnomAD
rs1310795626	p.Glu1037Gly	missense variant	-	NC_000010.11:g.31526999A>G	gnomAD
COSM917717	p.Glu1037Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31526998G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys1038Gln	missense variant	-	NC_000010.11:g.31527001A>C	NCI-TCGA
rs1294396214	p.Glu1041Asp	missense variant	-	NC_000010.11:g.31527012G>T	gnomAD
rs1177656244	p.Glu1041Gly	missense variant	-	NC_000010.11:g.31527011A>G	gnomAD
rs1370965143	p.Glu1041Lys	missense variant	-	NC_000010.11:g.31527010G>A	TOPMed
rs962563471	p.Asp1044Gly	missense variant	-	NC_000010.11:g.31527020A>G	TOPMed,gnomAD
rs748861379	p.Asp1044Asn	missense variant	-	NC_000010.11:g.31527019G>A	ExAC
rs962563471	p.Asp1044Val	missense variant	-	NC_000010.11:g.31527020A>T	TOPMed,gnomAD
rs994043245	p.Met1047Thr	missense variant	-	NC_000010.11:g.31527029T>C	gnomAD
rs1209386991	p.Met1047Ile	missense variant	-	NC_000010.11:g.31527030G>A	gnomAD
rs1437137642	p.Glu1049Asp	missense variant	-	NC_000010.11:g.31527036A>C	TOPMed
COSM3867118	p.Glu1052Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31527043G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1053Gln	missense variant	-	NC_000010.11:g.31527046G>C	NCI-TCGA
rs1302635455	p.Lys1054Arg	missense variant	-	NC_000010.11:g.31527050A>G	TOPMed
rs745510108	p.Glu1055Ala	missense variant	-	NC_000010.11:g.31527053A>C	ExAC,gnomAD
rs771715739	p.Cys1056Arg	missense variant	-	NC_000010.11:g.31527055T>C	ExAC,gnomAD
rs1199619327	p.Cys1056Tyr	missense variant	-	NC_000010.11:g.31527056G>A	TOPMed,gnomAD
rs1199619327	p.Cys1056Phe	missense variant	-	NC_000010.11:g.31527056G>T	TOPMed,gnomAD
rs146561222	p.Glu1057Asp	missense variant	-	NC_000010.11:g.31527060A>C	ExAC,TOPMed,gnomAD
COSM5909066	p.Glu1057Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31527058G>A	NCI-TCGA Cosmic
COSM3807046	p.Glu1057Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31527059A>G	NCI-TCGA Cosmic
COSM5139618	p.Lys1058AsnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000010.11:g.31527059A>-	NCI-TCGA Cosmic
rs1453663050	p.Pro1059Ala	missense variant	-	NC_000010.11:g.31527064C>G	gnomAD
rs1171688073	p.Gly1061Arg	missense variant	-	NC_000010.11:g.31527070G>A	gnomAD
COSM427491	p.Gly1061Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31527071G>A	NCI-TCGA Cosmic
COSM6065839	p.Gly1061Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31527070G>T	NCI-TCGA Cosmic
rs562863368	p.Asp1062Val	missense variant	-	NC_000010.11:g.31527074A>T	1000Genomes,ExAC,gnomAD
rs768754218	p.Asp1062Glu	missense variant	-	NC_000010.11:g.31527075T>G	ExAC
rs768754218	p.Asp1062Glu	missense variant	-	NC_000010.11:g.31527075T>A	ExAC
rs762043318	p.Glu1063Lys	missense variant	-	NC_000010.11:g.31527076G>A	ExAC,gnomAD
rs1382283251	p.Glu1066Asp	missense variant	-	NC_000010.11:g.31527087G>C	gnomAD
NCI-TCGA novel	p.Glu1066Gly	insertion	-	NC_000010.11:g.31527086_31527087insGGG	NCI-TCGA
rs1388185484	p.Glu1067Ter	stop gained	-	NC_000010.11:g.31527088G>T	gnomAD
rs1323593817	p.Glu1067Ala	missense variant	-	NC_000010.11:g.31527089A>C	gnomAD
rs1369634338	p.Glu1068Gly	missense variant	-	NC_000010.11:g.31527092A>G	gnomAD
rs955193940	p.Glu1069Lys	missense variant	-	NC_000010.11:g.31527094G>A	gnomAD
rs1286252350	p.Glu1071Val	missense variant	-	NC_000010.11:g.31527101A>T	TOPMed
rs1312091878	p.Glu1071Lys	missense variant	-	NC_000010.11:g.31527100G>A	gnomAD
rs545057622	p.Val1072Gly	missense variant	-	NC_000010.11:g.31527104T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1259380440	p.Glu1075Ter	stop gained	-	NC_000010.11:g.31527112G>T	gnomAD
rs375270538	p.Glu1076Val	missense variant	-	NC_000010.11:g.31527116A>T	ESP,ExAC,TOPMed,gnomAD
rs766577918	p.Glu1076Lys	missense variant	-	NC_000010.11:g.31527115G>A	ExAC,gnomAD
rs146672684	p.Val1077Ile	missense variant	-	NC_000010.11:g.31527118G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1382067024	p.Ala1080Glu	missense variant	-	NC_000010.11:g.31527128C>A	gnomAD
rs1289642724	p.Glu1081Ala	missense variant	-	NC_000010.11:g.31527131A>C	TOPMed
rs140217290	p.Glu1081Lys	missense variant	-	NC_000010.11:g.31527130G>A	1000Genomes,ExAC,gnomAD
rs140217290	p.Glu1081Gln	missense variant	-	NC_000010.11:g.31527130G>C	1000Genomes,ExAC,gnomAD
rs1158050644	p.Asn1082Ser	missense variant	-	NC_000010.11:g.31527134A>G	gnomAD
COSM4013798	p.Asn1082Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000010.11:g.31527133A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1083Lys	missense variant	-	NC_000010.11:g.31527136G>A	NCI-TCGA
rs778315904	p.Gly1084Glu	missense variant	-	NC_000010.11:g.31527140G>A	ExAC
NCI-TCGA novel	p.Gly1084Ter	stop gained	-	NC_000010.11:g.31527139G>T	NCI-TCGA
rs914827545	p.Gly1084Arg	missense variant	-	NC_000010.11:g.31527139G>A	gnomAD
rs745333564	p.Glu1085Gln	missense variant	-	NC_000010.11:g.31527142G>C	ExAC,gnomAD
rs201845244	p.Glu1086Ala	missense variant	-	NC_000010.11:g.31527146A>C	ESP,ExAC,TOPMed,gnomAD
rs771670426	p.Glu1086Lys	missense variant	-	NC_000010.11:g.31527145G>A	ExAC,TOPMed,gnomAD
rs1178691983	p.Ala1087Glu	missense variant	-	NC_000010.11:g.31527149C>A	TOPMed
rs746846574	p.Ala1087Thr	missense variant	-	NC_000010.11:g.31527148G>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr1089Asn	missense variant	-	NC_000010.11:g.31527155C>A	NCI-TCGA
rs1378260622	p.Thr1089Ser	missense variant	-	NC_000010.11:g.31527154A>T	gnomAD
rs1305232912	p.Met1093Arg	missense variant	-	NC_000010.11:g.31527167T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asp1095His	missense variant	-	NC_000010.11:g.31527172G>C	NCI-TCGA
rs141086946	p.Asp1096Val	missense variant	-	NC_000010.11:g.31527176A>T	ESP,TOPMed
rs1333024440	p.Arg1097Lys	missense variant	-	NC_000010.11:g.31527179G>A	TOPMed,gnomAD
rs1333024440	p.Arg1097Thr	missense variant	-	NC_000010.11:g.31527179G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ala1098Ser	missense variant	-	NC_000010.11:g.31527181G>T	NCI-TCGA
NCI-TCGA novel	p.Glu1099Lys	missense variant	-	NC_000010.11:g.31527184G>A	NCI-TCGA
rs1205084569	p.Ser1100Asn	missense variant	-	NC_000010.11:g.31527188G>A	TOPMed,gnomAD
rs999031795	p.Gln1101Arg	missense variant	-	NC_000010.11:g.31527191A>G	TOPMed
NCI-TCGA novel	p.Gln1101His	missense variant	-	NC_000010.11:g.31527192A>T	NCI-TCGA
NCI-TCGA novel	p.Ala1102Ser	missense variant	-	NC_000010.11:g.31527193G>T	NCI-TCGA
rs1257482726	p.Ser1103Gly	missense variant	-	NC_000010.11:g.31527196A>G	TOPMed
rs150279725	p.Ser1103Asn	missense variant	-	NC_000010.11:g.31527197G>A	ESP,ExAC,TOPMed,gnomAD
rs867898481	p.Ser1104Asn	missense variant	-	NC_000010.11:g.31527200G>A	-
rs1261143096	p.Ser1104Arg	missense variant	-	NC_000010.11:g.31527199A>C	TOPMed
rs138952579	p.Leu1105Val	missense variant	-	NC_000010.11:g.31527202T>G	ESP,ExAC,TOPMed,gnomAD
rs780789057	p.Gly1106Val	missense variant	-	NC_000010.11:g.31527206G>T	gnomAD
rs1248076108	p.Gly1106Arg	missense variant	-	NC_000010.11:g.31527205G>C	gnomAD
NCI-TCGA novel	p.Gly1106Ter	stop gained	-	NC_000010.11:g.31527205G>T	NCI-TCGA
rs766825578	p.Gly1110Asp	missense variant	-	NC_000010.11:g.31527218G>A	ExAC,TOPMed,gnomAD
rs1296422833	p.Gly1110Ser	missense variant	-	NC_000010.11:g.31527217G>A	TOPMed
rs143438972	p.Glu1111Lys	missense variant	-	NC_000010.11:g.31527220G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143438972	p.Glu1111Ter	stop gained	-	NC_000010.11:g.31527220G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759693175	p.Glu1111Asp	missense variant	-	NC_000010.11:g.31527222G>C	ExAC,gnomAD
rs767871131	p.Ser1112Asn	missense variant	-	NC_000010.11:g.31527224G>A	ExAC,TOPMed,gnomAD
rs1467674685	p.Gln1115Ter	stop gained	-	NC_000010.11:g.31527232C>T	TOPMed
rs756636108	p.Gln1115His	missense variant	-	NC_000010.11:g.31527234A>C	ExAC,gnomAD
rs1373087690	p.Val1116Met	missense variant	-	NC_000010.11:g.31527235G>A	TOPMed
NCI-TCGA novel	p.Ser1117Pro	missense variant	-	NC_000010.11:g.31527238T>C	NCI-TCGA
rs778320489	p.Glu1118Lys	missense variant	-	NC_000010.11:g.31527241G>A	ExAC,gnomAD
rs1166661461	p.Thr1121Ile	missense variant	-	NC_000010.11:g.31527251C>T	gnomAD
rs749942924	p.Ala1124Thr	missense variant	-	NC_000010.11:g.31527259G>A	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0002793	Anaplasia	disease	BEFREE
C0003504	Aortic Valve Insufficiency	disease	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006118	Brain Neoplasms	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE;CTD_human
C0006826	Malignant Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007103	Malignant neoplasm of endometrium	disease	BEFREE
C0007115	Malignant neoplasm of thyroid	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0007621	Neoplastic Cell Transformation	phenotype	CTD_human
C0009375	Colonic Neoplasms	group	BEFREE;LHGDN
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	BEFREE
C0010036	Corneal dystrophy	disease	BEFREE;CLINVAR;HPO
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0013274	Patent ductus arteriosus	disease	BEFREE
C0014070	Encephalomyelitis	disease	BEFREE
C0014170	Endometrial Neoplasms	group	CTD_human
C0014474	Ependymoma	disease	BEFREE
C0015625	Fanconi Anemia	disease	BEFREE;LHGDN
C0016781	Fuchs Endothelial Dystrophy	disease	BEFREE;ORPHANET
C0016978	gallbladder neoplasm	disease	LHGDN
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0018834	Heartburn	phenotype	BEFREE
C0021051	Immunologic Deficiency Syndromes	group	BEFREE
C0021841	Intestinal Neoplasms	group	BEFREE
C0022578	Keratoconus	disease	BEFREE
C0023267	Fibroid Tumor	group	BEFREE
C0023269	leiomyosarcoma	disease	BEFREE
C0023492	Leukemia, T-Cell	disease	BEFREE
C0023493	Adult T-Cell Lymphoma/Leukemia	disease	BEFREE;LHGDN
C0023890	Liver Cirrhosis	disease	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0024141	Lupus Erythematosus, Systemic	disease	BEFREE
C0024299	Lymphoma	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0025500	Mesothelioma	disease	BEFREE
C0026010	Microphthalmos	disease	BEFREE
C0026769	Multiple Sclerosis	disease	BEFREE
C0027626	Neoplasm Invasiveness	phenotype	CTD_human
C0027627	Neoplasm Metastasis	phenotype	BEFREE;LHGDN
C0027651	Neoplasms	group	BEFREE
C0027686	Pathologic Neovascularization	phenotype	LHGDN
C0029172	Oral Submucous Fibrosis	disease	BEFREE;CTD_human
C0029463	Osteosarcoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030481	Tropical Spastic Paraparesis	disease	MGD
C0032580	Adenomatous Polyposis Coli	disease	BEFREE
C0032584	polyps	phenotype	BEFREE
C0033578	Prostatic Neoplasms	group	BEFREE
C0036920	Sezary Syndrome	disease	CTD_human
C0042133	Uterine Fibroids	group	BEFREE
C0079731	B-Cell Lymphomas	group	BEFREE
C0079772	T-Cell Lymphoma	disease	BEFREE
C0079773	Lymphoma, T-Cell, Cutaneous	disease	CTD_human
C0149678	Epstein-Barr Virus Infections	group	BEFREE
C0149782	Squamous cell carcinoma of lung	disease	BEFREE
C0149925	Small cell carcinoma of lung	disease	BEFREE
C0151744	Myocardial Ischemia	disease	CTD_human
C0152013	Adenocarcinoma of lung (disorder)	disease	BEFREE
C0153349	Malignant neoplasm of tongue	disease	BEFREE
C0153452	Malignant neoplasm of gallbladder	disease	BEFREE
C0153567	Uterine Cancer	disease	BEFREE
C0153633	Malignant neoplasm of brain	disease	BEFREE
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0153690	Secondary malignant neoplasm of bone	disease	BEFREE
C0162810	Cicatrix, Hypertrophic	phenotype	BEFREE
C0178282	Hernia of abdominal cavity	phenotype	LHGDN
C0178874	Tumor Progression	phenotype	BEFREE
C0206627	Mixed Tumor, Mullerian	disease	BEFREE
C0206687	Carcinoma, Endometrioid	disease	BEFREE
C0206698	Cholangiocarcinoma	disease	BEFREE
C0220668	Congenital contractural arachnodactyly	disease	BEFREE
C0235874	Disease Exacerbation	phenotype	CTD_human
C0235974	Pancreatic carcinoma	disease	BEFREE
C0238463	Papillary thyroid carcinoma	disease	CTD_human
C0239946	Fibrosis, Liver	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0271288	Corneal guttata	disease	HPO
C0278878	Adult Glioblastoma	disease	BEFREE
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0279671	Cervical Squamous Cell Carcinoma	disease	BEFREE
C0280474	Childhood Glioblastoma	disease	BEFREE
C0281361	Adenocarcinoma of pancreas	disease	BEFREE
C0334233	Pleomorphic carcinoma	disease	BEFREE
C0334583	Pilocytic Astrocytoma	disease	BEFREE
C0334634	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	disease	BEFREE
C0338106	Adenocarcinoma of colon	disease	BEFREE
C0339284	Polymorphous corneal dystrophy	disease	BEFREE;CLINVAR;ORPHANET
C0341858	Endometriosis of uterus	disease	BEFREE
C0342895	Fish-Eye Disease	disease	BEFREE
C0345967	Malignant mesothelioma	disease	BEFREE
C0346629	Malignant neoplasm of large intestine	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0346957	Disseminated Malignant Neoplasm	phenotype	BEFREE
C0349566	Squamous cell carcinoma of tongue	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376407	Granulomatous Slack Skin	disease	CTD_human
C0392514	Hereditary hemochromatosis	disease	BEFREE
C0476089	Endometrial Carcinoma	disease	BEFREE;CTD_human
C0494165	Secondary malignant neoplasm of liver	disease	BEFREE
C0521158	Recurrent tumor	phenotype	BEFREE
C0544008	Chandler syndrome	disease	BEFREE
C0549473	Thyroid carcinoma	disease	BEFREE
C0558353	Tongue Carcinoma	disease	BEFREE
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0677898	invasive cancer	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE;CTD_human
C0684249	Carcinoma of lung	disease	BEFREE
C0685938	Malignant neoplasm of gastrointestinal tract	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0730328	Central Serous Chorioretinopathy	disease	BEFREE
C0740457	Malignant neoplasm of kidney	disease	BEFREE
C0812413	Malignant Pleural Mesothelioma	disease	BEFREE
C0919267	ovarian neoplasm	disease	CTD_human
C1140680	Malignant neoplasm of ovary	disease	BEFREE;CTD_human
C1257931	Mammary Neoplasms, Human	group	CTD_human
C1261473	Sarcoma	group	BEFREE
C1301034	Pancreatic intraepithelial neoplasia	disease	BEFREE
C1306459	Primary malignant neoplasm	group	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1332986	Childhood Osteosarcoma	disease	BEFREE
C1333990	Hereditary Nonpolyposis Colorectal Cancer	disease	BEFREE
C1335302	Pancreatic Ductal Adenocarcinoma	disease	BEFREE
C1368683	Epithelioma	disease	BEFREE
C1368911	Papillary urothelial carcinoma	disease	BEFREE
C1378703	Renal carcinoma	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE;CTD_human;LHGDN
C1516865	Endometrial Undifferentiated Carcinoma	disease	BEFREE
C1518869	Pancreatic Intraductal Papillary-Mucinous Neoplasm	disease	BEFREE
C1519670	Tumor Angiogenesis	phenotype	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1562113	Fleck corneal dystrophy	disease	BEFREE
C1567741	Alport Syndrome	disease	BEFREE
C1569637	Adenocarcinoma, Endometrioid	disease	BEFREE
C1621958	Glioblastoma Multiforme	disease	BEFREE
C1623038	Cirrhosis	disease	BEFREE
C1836724	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (disorder)	disease	CTD_human
C1855670	Abnormality of the cornea	group	GENOMICS_ENGLAND
C1857569	CORNEAL ENDOTHELIAL DYSTROPHY 2	disease	BEFREE
C1857800	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2	disease	BEFREE
C1883486	Uterine Corpus Cancer	disease	BEFREE
C1962986	Glaucoma Adverse Event	phenotype	CLINVAR
C2239176	Liver carcinoma	disease	BEFREE
C2750448	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6	disease	CLINVAR;CTD_human;UNIPROT
C2939420	Metastatic Neoplasm	phenotype	BEFREE
C2945759	aggressive cancer	phenotype	BEFREE
C3469521	FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	disease	BEFREE
C3501843	Non-medullary thyroid carcinoma	disease	CTD_human
C3501844	Familial Nonmedullary Thyroid Cancer	disease	CTD_human
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE
C3665386	Abnormal vision	phenotype	CLINVAR

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA
GO:0003682	chromatin binding	IEA
GO:0003700	DNA-binding transcription factor activity	TAS
GO:0003713	transcription coactivator activity	TAS
GO:0003714	transcription corepressor activity	TAS
GO:0005515	protein binding	IPI
GO:0008270	zinc ion binding	TAS
GO:0070888	E-box binding	ISS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0006357	regulation of transcription by RNA polymerase II	TAS
GO:0007389	pattern specification process	IEA
GO:0007417	central nervous system development	IEA
GO:0008285	negative regulation of cell population proliferation	IEA
GO:0010464	regulation of mesenchymal cell proliferation	IEA
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0019221	cytokine-mediated signaling pathway	TAS
GO:0033081	regulation of T cell differentiation in thymus	IEA
GO:0045602	negative regulation of endothelial cell differentiation	IMP
GO:0045666	positive regulation of neuron differentiation	ISS
GO:0045892	negative regulation of transcription, DNA-templated	IMP
GO:0045892	negative regulation of transcription, DNA-templated	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0048596	embryonic camera-type eye morphogenesis	IEA
GO:0048704	embryonic skeletal system morphogenesis	IEA
GO:0048752	semicircular canal morphogenesis	IEA
GO:0051150	regulation of smooth muscle cell differentiation	IEA
GO:0051216	cartilage development	IEA
GO:0071230	cellular response to amino acid stimulus	IEA
GO:0090103	cochlea morphogenesis	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0005829	cytosol	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1280215	Cytokine Signaling in Immune system	TAS
R-HSA-168256	Immune System	TAS
R-HSA-449147	Signaling by Interleukins	TAS
R-HSA-6785807	Interleukin-4 and Interleukin-13 signaling	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C032668	1-nitropyrene	1-nitropyrene results in increased expression of ZEB1 mRNA	19041380
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of ZEB1 mRNA	25510870
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl affects the expression of ZEB1 mRNA	19114083
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of ZEB1 mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of ZEB1 mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of ZEB1 mRNA	25510870
C525921	2-(4-(biphenyl-4-sulfonyl)-piperazin-1-yl)-6,7-dipropoxyquinazolin-4-yl-amine	2-(4-(biphenyl-4-sulfonyl)-piperazin-1-yl)-6,7-dipropoxyquinazolin-4-yl-amine results in decreased expression of ZEB1 protein	29108245
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of ZEB1 mRNA	25510870
C588087	2-(5-(3-chlorophenyl)-6-(4-chlorophenyl)-1-(1-(isopropylsulfonyl)-3-methylbutan-2-yl)-3-methyl-2-oxopiperidin-3-yl)acetic acid	2-(5-(3-chlorophenyl)-6-(4-chlorophenyl)-1-(1-(isopropylsulfonyl)-3-methylbutan-2-yl)-3-methyl-2-oxopiperidin-3-yl)acetic acid results in decreased expression of ZEB1 protein	30022047
D015073	2-Acetylaminofluorene	2-Acetylaminofluorene results in decreased expression of ZEB1 protein	19167416
C048460	3-deazaneplanocin	3-deazaneplanocin inhibits the reaction [Resveratrol results in decreased expression of ZEB1 mRNA]	26934322
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with belinostat 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 decreased expression of ZEB1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat 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 decreased expression of ZEB1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat 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 decreased expression of ZEB1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with 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 decreased expression of ZEB1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ZEB1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ZEB1 mRNA	27188386
C584755	6-bromo-8-ethoxy-3-nitro-2H-chromene	6-bromo-8-ethoxy-3-nitro-2H-chromene results in decreased expression of ZEB1 protein	30125547
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 ZEB1 mRNA	19150397
C557120	8-ethoxy-2-(4-fluorophenyl)-3-nitro-2H-chromene	8-ethoxy-2-(4-fluorophenyl)-3-nitro-2H-chromene results in decreased expression of ZEB1 protein	30125547
C496492	abrine	abrine results in increased expression of ZEB1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of ZEB1 mRNA	21420995
C016601	afimoxifene	afimoxifene results in increased expression of ZEB1 mRNA	12154049
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of ZEB1 mRNA	19770486
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of ZEB1 mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of ZEB1 mRNA	24449571
D001151	Arsenic	Arsenic affects the methylation of ZEB1 gene	25304211
D000077237	Arsenic Trioxide	Arsenic Trioxide promotes the reaction [Tretinoin results in decreased expression of ZEB1 mRNA]	30093655
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of ZEB1 mRNA	30093655
D000077237	Arsenic Trioxide	Tretinoin promotes the reaction [Arsenic Trioxide results in decreased expression of ZEB1 mRNA]	30093655
D000077237	Arsenic Trioxide	ZEB1 protein results in increased susceptibility to Arsenic Trioxide	20707922
C487081	belinostat	[NOG protein co-treated with belinostat 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 decreased expression of ZEB1 mRNA	27188386
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of ZEB1 mRNA	30659931
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of ZEB1 mRNA	27221058
D001564	Benzo(a)pyrene	AHR protein inhibits the reaction [Benzo(a)pyrene results in increased expression of ZEB1 mRNA]	15034205
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of ZEB1 mRNA	15034205
C006780	bisphenol A	[bisphenol A co-treated with Genistein] results in decreased methylation of ZEB1 gene	28505145
C006780	bisphenol A	bisphenol A results in decreased expression of ZEB1 mRNA	25181051; 30816183;
C005961	bis(tri-n-butyltin)oxide	bis(tri-n-butyltin)oxide results in increased expression of ZEB1 mRNA	17553608
C027561	butylbenzyl phthalate	ATM protein affects the reaction [butylbenzyl phthalate results in increased expression of ZEB1 protein]	31212022
C027561	butylbenzyl phthalate	butylbenzyl phthalate results in increased expression of and affects the localization of ZEB1 protein	31212022
C027561	butylbenzyl phthalate	butylbenzyl phthalate results in increased expression of and results in increased stability of ZEB1 mRNA	31212022
C027561	butylbenzyl phthalate	butylbenzyl phthalate results in increased stability of ZEB1 protein	31212022
C027561	butylbenzyl phthalate	MIR655 mRNA inhibits the reaction [butylbenzyl phthalate results in increased expression of ZEB1 protein]	31212022
C027561	butylbenzyl phthalate	ZEB1 protein affects the reaction [butylbenzyl phthalate results in increased expression of MMP2 protein]	31212022
C027561	butylbenzyl phthalate	butylbenzyl phthalate results in increased expression of ZEB1 protein	31212022
C027561	butylbenzyl phthalate	MIR655 mRNA inhibits the reaction [butylbenzyl phthalate results in increased expression of ZEB1 mRNA]	31212022
D002104	Cadmium	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of ZEB1 mRNA	29741670
D019256	Cadmium Chloride	[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of ZEB1 mRNA	29741670
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of ZEB1 protein	30998937
C459604	candoxin	candoxin results in decreased expression of ZEB1 mRNA	16309724
D004390	Chlorpyrifos	Chlorpyrifos results in increased expression of ZEB1 mRNA	20350560
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of ZEB1 protein	20548288
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of ZEB1 gene	20938992
C074702	chromium hexavalent ion	chromium hexavalent ion results in increased expression of ZEB1 mRNA	23518002
C018021	cobaltous chloride	cobaltous chloride results in increased expression of ZEB1 mRNA	19376846
D019327	Copper Sulfate	Copper Sulfate results in increased expression of ZEB1 mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in increased expression of ZEB1 mRNA	20106945; 25562108;
C007262	deoxynivalenol	deoxynivalenol results in decreased activity of ZEB1 protein	11893416
C007262	deoxynivalenol	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] promotes the reaction [deoxynivalenol results in decreased expression of ZEB1 protein]	11893416
D003907	Dexamethasone	Dexamethasone results in increased expression of ZEB1 mRNA	25047013
D004008	Diclofenac	Diclofenac results in decreased expression of ZEB1 protein	19628293
C000944	dicrotophos	dicrotophos results in decreased expression of ZEB1 mRNA	28302478
D004054	Diethylstilbestrol	Diethylstilbestrol results in decreased expression of ZEB1 mRNA	15289156
D004237	Diuron	Diuron results in decreased expression of ZEB1 mRNA	25152437
D004237	Diuron	Diuron results in increased expression of ZEB1 mRNA	21551480
C516138	dorsomorphin	[NOG protein co-treated with belinostat 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 decreased expression of ZEB1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with entinostat 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 decreased expression of ZEB1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat 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 decreased expression of ZEB1 mRNA	27188386
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 decreased expression of ZEB1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ZEB1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ZEB1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of ZEB1 mRNA	29803840
D004317	Doxorubicin	ZEB1 protein affects the susceptibility to Doxorubicin	19839049
C010945	embelin	embelin results in decreased expression of ZEB1 protein	24694877
C118739	entinostat	entinostat results in decreased expression of ZEB1 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat 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 decreased expression of ZEB1 mRNA	27188386
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of ZEB1 mRNA	30165855
D004958	Estradiol	Estradiol results in increased expression of ZEB1 mRNA	12154049
D004958	Estradiol	Estradiol results in decreased expression of ZEB1 mRNA	15289156
D004967	Estrogens	Estrogens results in increased expression of ZEB1 mRNA	18622689
D000431	Ethanol	Ethanol affects the splicing of ZEB1 mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of ZEB1 mRNA	30319688
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ZEB1 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of ZEB1 mRNA	23129252
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of ZEB1 protein	20548288
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of ZEB1 gene	20938992
D005557	Formaldehyde	Formaldehyde results in decreased expression of ZEB1 mRNA	20655997; 23649840;
D019833	Genistein	Genistein results in decreased expression of ZEB1 mRNA	15289156
D019833	Genistein	[bisphenol A co-treated with Genistein] results in decreased methylation of ZEB1 gene	28505145
D005839	Gentamicins	Gentamicins results in increased expression of ZEB1 mRNA	22061828
D007213	Indomethacin	Indomethacin results in increased expression of ZEB1 mRNA	16984733
D007213	Indomethacin	Indomethacin results in increased expression of ZEB1 mRNA	16184411
D007213	Indomethacin	rebamipide inhibits the reaction [Indomethacin results in increased expression of ZEB1 mRNA]	16184411
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] promotes the reaction [deoxynivalenol results in decreased expression of ZEB1 protein]	11893416
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] affects the expression of ZEB1 mRNA	25613284
C544151	jinfukang	jinfukang results in decreased expression of ZEB1 mRNA	27392435
C561695	(+)-JQ1 compound	[PD 0325901 co-treated with (+)-JQ1 compound] results in decreased expression of ZEB1 mRNA	25119042
D000077339	Leflunomide	Leflunomide results in increased expression of ZEB1 mRNA	28988120
D008627	Mercuric Chloride	Mercuric Chloride results in increased expression of ZEB1 mRNA	16507785
D008694	Methamphetamine	Methamphetamine affects the expression of ZEB1 mRNA	29802913
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of ZEB1 protein	20548288
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of ZEB1 gene	20938992
D008727	Methotrexate	Methotrexate affects the expression of ZEB1 mRNA	18502557
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of ZEB1 mRNA	28001369
D008770	Methylnitrosourea	Methylnitrosourea results in increased expression of ZEB1 mRNA	27221058
C548887	MK 2206	MK 2206 results in increased expression of ZEB1 mRNA	30723155
C548887	MK 2206	[U 0126 co-treated with MK 2206] results in increased expression of ZEB1 mRNA	30723155
C000622638	MLN7243	MLN7243 results in decreased sumoylation of ZEB1 protein	31285264
D008985	Monensin	ZEB1 protein results in increased susceptibility to Monensin	30718715
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of ZEB1 mRNA	25554681
C029938	nickel sulfate	nickel sulfate results in decreased expression of ZEB1 mRNA	22714537
C029938	nickel sulfate	nickel sulfate results in increased expression of ZEB1 mRNA	18651567
D009538	Nicotine	Nicotine results in increased expression of ZEB1 mRNA	16949557
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of ZEB1 mRNA	26251327
C047330	N-methylisoindigotin	N-methylisoindigotin results in decreased expression of ZEB1 mRNA	26887594
C047330	N-methylisoindigotin	N-methylisoindigotin results in decreased expression of ZEB1 protein	26887594
D000077150	Oxaliplatin	Oxaliplatin results in decreased expression of ZEB1 mRNA	17762391
D010100	Oxygen	DICER1 protein inhibits the reaction [Oxygen deficiency results in increased expression of ZEB1 mRNA]	25351418
D010100	Oxygen	Oxygen deficiency results in increased expression of ZEB1 mRNA	25351418
C500026	palbociclib	palbociclib inhibits the reaction [[CDK6 protein binds to CCND3 protein] which results in increased phosphorylation of ZEB1 protein]	22094256
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat 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 decreased expression of ZEB1 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in decreased expression of ZEB1 mRNA	26272509
D052638	Particulate Matter	Particulate Matter results in increased expression of ZEB1 mRNA	28846189
D052638	Particulate Matter	Particulate Matter results in increased expression of ZEB1 protein	28846189
D052638	Particulate Matter	[Vehicle Emissions results in increased abundance of Particulate Matter] which results in increased expression of ZEB1 mRNA	30010986
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of ZEB1 mRNA	25510870
C506614	PD 0325901	[PD 0325901 co-treated with (+)-JQ1 compound] results in decreased expression of ZEB1 mRNA	25119042
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of ZEB1 mRNA	27153767
D010634	Phenobarbital	Phenobarbital results in decreased expression of ZEB1 mRNA	23091169
D010634	Phenobarbital	Phenobarbital results in decreased expression of ZEB1 protein	24157574
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 decreased expression of ZEB1 mRNA	27188386
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of ZEB1 mRNA	22714537
D011374	Progesterone	Progesterone results in increased expression of ZEB1 mRNA	20864642
D011374	Progesterone	Progesterone results in increased expression of ZEB1 mRNA	18622689
C045950	propiconazole	propiconazole results in decreased expression of ZEB1 mRNA	21278054
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride results in decreased expression of ZEB1 mRNA	16497877
C052785	rebamipide	rebamipide inhibits the reaction [Indomethacin results in increased expression of ZEB1 mRNA]	16184411
D000077185	Resveratrol	3-deazaneplanocin inhibits the reaction [Resveratrol results in decreased expression of ZEB1 mRNA]	26934322
D000077185	Resveratrol	EZH2 mRNA promotes the reaction [Resveratrol results in decreased expression of ZEB1 mRNA]	26934322
D000077185	Resveratrol	Resveratrol results in decreased expression of ZEB1 mRNA	21304978; 22692956; 26934322;
D000077185	Resveratrol	Resveratrol results in decreased expression of ZEB1 protein	22692956; 26934322;
D000077185	Resveratrol	Resveratrol results in increased expression of ZEB1 mRNA	12154049
D000077185	Resveratrol	Resveratrol inhibits the reaction [EGF protein results in increased expression of ZEB1 mRNA]	21794976
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in decreased expression of ZEB1 mRNA	21427059
D012524	Sarin	Sarin results in decreased expression of ZEB1 mRNA	19522546
D012643	Selenium	Selenium results in decreased expression of ZEB1 mRNA	19244175
D012822	Silicon Dioxide	MIR200C mRNA inhibits the reaction [Silicon Dioxide results in increased expression of ZEB1 protein]	29113749
D012822	Silicon Dioxide	Silicon Dioxide results in increased expression of ZEB1 protein	29113749
D012822	Silicon Dioxide	[Silicon Dioxide results in increased secretion of TGFB1 protein] which results in increased expression of ZEB1 protein	29113749
D012834	Silver	Silver results in increased expression of ZEB1 mRNA	26014281; 26551752;
C009277	sodium arsenate	sodium arsenate results in increased expression of ZEB1 mRNA	21795629
C017947	sodium arsenite	sodium arsenite affects the methylation of ZEB1 gene	28589171
C017947	sodium arsenite	sodium arsenite results in decreased expression of ZEB1 mRNA	22714537
C017947	sodium arsenite	sodium arsenite results in increased expression of ZEB1 mRNA	12760830; 21292642;
C017947	sodium arsenite	sodium arsenite results in increased expression of ZEB1 protein	30167605
D000077157	Sorafenib	Sorafenib results in decreased expression of ZEB1 mRNA	21360571
C041711	St. Thomas' Hospital cardioplegic solution	St. Thomas' Hospital cardioplegic solution results in increased expression of ZEB1 mRNA	16214533
C016766	sulforafan	sulforafan results in increased expression of ZEB1 mRNA	26833863
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of ZEB1 mRNA	31299295
C004648	testosterone enanthate	testosterone enanthate affects the expression of ZEB1 mRNA	17440010
D013749	Tetrachlorodibenzodioxin	AHR protein inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of ZEB1 mRNA]	15034205
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of ZEB1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ZEB1 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of ZEB1 mRNA	27562557
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of ZEB1 mRNA	15034205; 21354282; 24058054;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of ZEB1 mRNA	15644576
D013755	Tetradecanoylphorbol Acetate	[Zinc co-treated with Tetradecanoylphorbol Acetate] affects the expression of ZEB1 mRNA	16979875
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] promotes the reaction [deoxynivalenol results in decreased expression of ZEB1 protein]	11893416
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] affects the expression of ZEB1 mRNA	25613284
C009495	titanium dioxide	titanium dioxide results in decreased expression of ZEB1 mRNA	23557971
D019772	Topotecan	ZEB1 protein affects the susceptibility to Topotecan	16217747
D014212	Tretinoin	Tretinoin results in decreased expression of ZEB1 mRNA	20530235
D014212	Tretinoin	Arsenic Trioxide promotes the reaction [Tretinoin results in decreased expression of ZEB1 mRNA]	30093655
D014212	Tretinoin	Tretinoin promotes the reaction [Arsenic Trioxide results in decreased expression of ZEB1 mRNA]	30093655
D014212	Tretinoin	Tretinoin results in decreased expression of ZEB1 mRNA	21934132; 30093655;
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ZEB1 mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of ZEB1 mRNA	24935251; 26272509;
D014260	Triclosan	Triclosan results in decreased expression of ZEB1 mRNA	30510588
D014414	Tungsten	Tungsten results in decreased expression of ZEB1 mRNA	30912803
C113580	U 0126	[U 0126 co-treated with MK 2206] results in increased expression of ZEB1 mRNA	30723155
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of ZEB1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of ZEB1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of ZEB1 mRNA	23179753; 24383497; 24935251; 25192806; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in decreased expression of ZEB1 protein	19628293
D001335	Vehicle Emissions	[Vehicle Emissions results in increased abundance of Particulate Matter] which results in increased expression of ZEB1 mRNA	30010986
D014810	Vitamin E	Vitamin E results in decreased expression of ZEB1 mRNA	19244175
D024483	Vitamin K 3	Vitamin K 3 results in decreased expression of ZEB1 protein	31238027
D014859	Warfarin	Warfarin results in decreased expression of ZEB1 protein	26206560
D015032	Zinc	Zinc affects the expression of ZEB1 mRNA	16979875
D015032	Zinc	[Zinc co-treated with Tetradecanoylphorbol Acetate] affects the expression of ZEB1 mRNA	16979875

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0010	Activator
KW-0025	Alternative splicing
KW-1212	Corneal dystrophy
KW-0221	Differentiation
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0371	Homeobox
KW-1017	Isopeptide bond
KW-0479	Metal-binding
KW-0524	Neurogenesis
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR008598	Di19_Zn_binding_dom
IPR009057	Homeobox-like_sf
IPR001356	Homeobox_dom
IPR036236	Znf_C2H2_sf
IPR013087	Znf_C2H2_type

PROSITE

PROSITE ID	PROSITE Term
PS00028	ZINC_FINGER_C2H2_1
PS50157	ZINC_FINGER_C2H2_2

Pfam

Pfam ID	Pfam Term
PF00096	zf-C2H2
PF05605	zf-Di19

Gene: ZEB1

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