SETMAR
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
ACC343551414355141+Missense_MutationSNPCCTTCGA-OR-A5J4-01A-11D-A29I-10TCGA-OR-A5J4-10A-01D-A29L-10g.chr3:4355141C>Tc.716C>Tc.(715-717)tCa>tTap.S239L
BLCA343451574345157+Nonsense_MutationSNPGGTTCGA-E5-A4TZ-01A-11D-A31L-08TCGA-E5-A4TZ-10B-01D-A31J-08g.chr3:4345157G>Tc.103G>Tc.(103-105)Gaa>Taap.E35*
BLCA343547144354714+Missense_MutationSNPGGATCGA-E7-A7DV-01A-11D-A339-08TCGA-E7-A7DV-10A-01D-A339-08g.chr3:4354714G>Ac.289G>Ac.(289-291)Gat>Aatp.D97N
BRCA343547694354769+Frame_Shift_DelDELTT-TCGA-AN-A0AK-01A-21W-A019-09TCGA-AN-A0AK-10A-01W-A021-09g.chr3:4354769delTc.344delTc.(343-345)gttfsp.V115fs
BRCA343553724355372+Missense_MutationSNPGGCTCGA-A8-A09N-01A-11W-A019-09TCGA-A8-A09N-10A-01W-A021-09g.chr3:4355372G>Cc.947G>Cc.(946-948)gGa>gCap.G316A
CESC343451184345118+Missense_MutationSNPGGATCGA-DG-A2KH-01A-21D-A22X-09TCGA-DG-A2KH-10A-01D-A22X-09g.chr3:4345118G>Ac.64G>Ac.(64-66)Gag>Aagp.E22K
CESC343547624354762+Missense_MutationSNPGGATCGA-JW-A5VL-01A-11D-A28B-09TCGA-JW-A5VL-10A-01D-A28E-09g.chr3:4354762G>Ac.337G>Ac.(337-339)Gag>Aagp.E113K
CESC343580974358097+Missense_MutationSNPCCTTCGA-Q1-A73S-01A-11D-A33O-09TCGA-Q1-A73S-10B-01D-A33O-09g.chr3:4358097C>Tc.1222C>Tc.(1222-1224)Cgg>Tggp.R408W
CESC343581394358139+Missense_MutationSNPGGATCGA-EK-A2R8-01A-21D-A18J-09TCGA-EK-A2R8-10A-01D-A18J-09g.chr3:4358139G>Ac.1264G>Ac.(1264-1266)Gaa>Aaap.E422K
CESC343586814358681+Missense_MutationSNPGGCTCGA-DG-A2KL-01A-11D-A17W-09TCGA-DG-A2KL-10A-01D-A17W-09g.chr3:4358681G>Cc.1806G>Cc.(1804-1806)ttG>ttCp.L602F
COAD343451504345150+SilentSNPCCTTCGA-CK-5916-01A-11D-1650-10TCGA-CK-5916-10A-01D-1650-10g.chr3:4345150C>Tc.96C>Tc.(94-96)tgC>tgTp.C32C
COAD343547694354769+Frame_Shift_DelDELTT-TCGA-CM-5861-01A-01D-1650-10TCGA-CM-5861-10A-01D-1650-10g.chr3:4354769delTc.344delTc.(343-345)gttfsp.V115fs
COAD343548444354844+Missense_MutationSNPAAGTCGA-AA-3815-01A-01W-0995-10TCGA-AA-3815-10A-01W-0995-10g.chr3:4354844A>Gc.419A>Gc.(418-420)cAc>cGcp.H140R
COAD343548674354867+Frame_Shift_DelDELAA-TCGA-AA-3815-01A-01W-0995-10TCGA-AA-3815-10A-01W-0995-10g.chr3:4354867delAc.442delAc.(442-444)aaafsp.K149fs
COAD343548754354875+SilentSNPCCTTCGA-D5-6928-01A-11D-1924-10TCGA-D5-6928-10A-01D-1924-10g.chr3:4354875C>Tc.450C>Tc.(448-450)ggC>ggTp.G150G
COAD343549054354905+SilentSNPGGATCGA-A6-5661-01A-01D-1650-10TCGA-A6-5661-10A-01D-1650-10g.chr3:4354905G>Ac.480G>Ac.(478-480)ccG>ccAp.P160P
COAD343588344358834+SilentSNPCCTTCGA-AA-3977-01A-01W-0995-10TCGA-AA-3977-10A-01W-0999-10g.chr3:4358834C>Tc.1959C>Tc.(1957-1959)gtC>gtTp.V653V
COADREAD343451504345150+SilentSNPCCTTCGA-CK-5916-01A-11D-1650-10TCGA-CK-5916-10A-01D-1650-10g.chr3:4345150C>Tc.96C>Tc.(94-96)tgC>tgTp.C32C
COADREAD343547694354769+Frame_Shift_DelDELTT-TCGA-CM-5861-01A-01D-1650-10TCGA-CM-5861-10A-01D-1650-10g.chr3:4354769delTc.344delTc.(343-345)gttfsp.V115fs
COADREAD343548444354844+Missense_MutationSNPAAGTCGA-AA-3815-01A-01W-0995-10TCGA-AA-3815-10A-01W-0995-10g.chr3:4354844A>Gc.419A>Gc.(418-420)cAc>cGcp.H140R
COADREAD343548674354867+Frame_Shift_DelDELAA-TCGA-AA-3815-01A-01W-0995-10TCGA-AA-3815-10A-01W-0995-10g.chr3:4354867delAc.442delAc.(442-444)aaafsp.K149fs
COADREAD343548754354875+SilentSNPCCTTCGA-D5-6928-01A-11D-1924-10TCGA-D5-6928-10A-01D-1924-10g.chr3:4354875C>Tc.450C>Tc.(448-450)ggC>ggTp.G150G
COADREAD343549054354905+SilentSNPGGATCGA-A6-5661-01A-01D-1650-10TCGA-A6-5661-10A-01D-1650-10g.chr3:4354905G>Ac.480G>Ac.(478-480)ccG>ccAp.P160P
COADREAD343554314355431+Nonsense_MutationSNPCCTTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr3:4355431C>Tc.1006C>Tc.(1006-1008)Cga>Tgap.R336*
COADREAD343588344358834+SilentSNPCCTTCGA-AA-3977-01A-01W-0995-10TCGA-AA-3977-10A-01W-0999-10g.chr3:4358834C>Tc.1959C>Tc.(1957-1959)gtC>gtTp.V653V
DLBC343546524354652+Missense_MutationSNPTTCTCGA-GS-A9TX-01A-11D-A382-10TCGA-GS-A9TX-10A-01D-A385-10g.chr3:4354652T>Cc.227T>Cc.(226-228)aTt>aCtp.I76T
DLBC343584764358476+Missense_MutationSNPCCTTCGA-G8-6326-01A-11D-2210-10TCGA-G8-6326-10A-01D-2210-10g.chr3:4358476C>Tc.1601C>Tc.(1600-1602)aCt>aTtp.T534I
ESCA343579304357930+Missense_MutationSNPGGTTCGA-V5-AASV-01A-11D-A387-09TCGA-V5-AASV-10A-01D-A38A-09g.chr3:4357930G>Tc.1055G>Tc.(1054-1056)cGa>cTap.R352L
GBMLGG343547914354791+SilentSNPCCTTCGA-E1-5307-01A-01D-1893-08TCGA-E1-5307-10A-01D-1893-08g.chr3:4354791C>Tc.366C>Tc.(364-366)tgC>tgTp.C122C
GBMLGG343551724355172+SilentSNPCCGTCGA-QH-A65S-01A-11D-A29Q-08TCGA-QH-A65S-10A-01D-A29Q-08g.chr3:4355172C>Gc.747C>Gc.(745-747)gcC>gcGp.A249A
GBMLGG343552084355208+Missense_MutationSNPTTGTCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr3:4355208T>Gc.783T>Gc.(781-783)gaT>gaGp.D261E
GBMLGG343554084355409+Frame_Shift_InsINS--TTCGA-QH-A65S-01A-11D-A29Q-08TCGA-QH-A65S-10A-01D-A29Q-08g.chr3:4355408_4355409insTc.983_984insTc.(982-987)ccttctfsp.S329fs
GBMLGG343581854358185+Missense_MutationSNPAAGTCGA-FG-8186-01A-11D-2253-08TCGA-FG-8186-10A-01D-2253-08g.chr3:4358185A>Gc.1310A>Gc.(1309-1311)aAt>aGtp.N437S
HNSC343550214355021+Missense_MutationSNPAAGTCGA-F7-A624-01A-22D-A30E-08TCGA-F7-A624-10A-01D-A30H-08g.chr3:4355021A>Gc.596A>Gc.(595-597)cAt>cGtp.H199R
HNSC343552724355272+Missense_MutationSNPCCGTCGA-CR-7379-01A-11D-2012-08TCGA-CR-7379-10A-01D-2013-08g.chr3:4355272C>Gc.847C>Gc.(847-849)Cta>Gtap.L283V
KIPAN343550624355062+Missense_MutationSNPAAGTCGA-A3-3311-01A-01D-0966-08TCGA-A3-3311-11A-01D-0966-08g.chr3:4355062A>Gc.637A>Gc.(637-639)Act>Gctp.T213A
KIPAN343554434355443+Missense_MutationSNPGGCTCGA-5P-A9JW-01A-11D-A42J-10TCGA-5P-A9JW-10A-01D-A42M-10g.chr3:4355443G>Cc.1018G>Cc.(1018-1020)Gag>Cagp.E340Q
KIRC343550624355062+Missense_MutationSNPAAGTCGA-A3-3311-01A-01D-0966-08TCGA-A3-3311-11A-01D-0966-08g.chr3:4355062A>Gc.637A>Gc.(637-639)Act>Gctp.T213A
KIRP343554434355443+Missense_MutationSNPGGCTCGA-5P-A9JW-01A-11D-A42J-10TCGA-5P-A9JW-10A-01D-A42M-10g.chr3:4355443G>Cc.1018G>Cc.(1018-1020)Gag>Cagp.E340Q
LGG343547914354791+SilentSNPCCTTCGA-E1-5307-01A-01D-1893-08TCGA-E1-5307-10A-01D-1893-08g.chr3:4354791C>Tc.366C>Tc.(364-366)tgC>tgTp.C122C
LGG343551724355172+SilentSNPCCGTCGA-QH-A65S-01A-11D-A29Q-08TCGA-QH-A65S-10A-01D-A29Q-08g.chr3:4355172C>Gc.747C>Gc.(745-747)gcC>gcGp.A249A
LGG343552084355208+Missense_MutationSNPTTGTCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr3:4355208T>Gc.783T>Gc.(781-783)gaT>gaGp.D261E
LGG343554084355409+Frame_Shift_InsINS--TTCGA-QH-A65S-01A-11D-A29Q-08TCGA-QH-A65S-10A-01D-A29Q-08g.chr3:4355408_4355409insTc.983_984insTc.(982-987)ccttctfsp.S329fs
LGG343581854358185+Missense_MutationSNPAAGTCGA-FG-8186-01A-11D-2253-08TCGA-FG-8186-10A-01D-2253-08g.chr3:4358185A>Gc.1310A>Gc.(1309-1311)aAt>aGtp.N437S
LIHC343548384354838+Missense_MutationSNPAACTCGA-DD-AADS-01A-11D-A40R-10TCGA-DD-AADS-10A-01D-A40U-10g.chr3:4354838A>Cc.413A>Cc.(412-414)cAg>cCgp.Q138P
LIHC343549044354904+Missense_MutationSNPCCTTCGA-DD-AAE6-01A-11D-A40R-10TCGA-DD-AAE6-10A-01D-A40U-10g.chr3:4354904C>Tc.479C>Tc.(478-480)cCg>cTgp.P160L
LIHC343582934358293+Missense_MutationSNPTTGTCGA-DD-AADE-01A-11D-A40R-10TCGA-DD-AADE-10A-01D-A40U-10g.chr3:4358293T>Gc.1418T>Gc.(1417-1419)tTt>tGtp.F473C
LIHC343583074358307+Missense_MutationSNPTTGTCGA-DD-AADE-01A-11D-A40R-10TCGA-DD-AADE-10A-01D-A40U-10g.chr3:4358307T>Gc.1432T>Gc.(1432-1434)Tct>Gctp.S478A
LUAD343545884354588+Missense_MutationSNPCCATCGA-44-8119-01A-11D-2238-08TCGA-44-8119-10A-01D-2238-08g.chr3:4354588C>Ac.163C>Ac.(163-165)Cct>Actp.P55T
LUAD343548854354885+Missense_MutationSNPCCTTCGA-86-A4JF-01A-11D-A24P-08TCGA-86-A4JF-10A-01D-A24P-08g.chr3:4354885C>Tc.460C>Tc.(460-462)Cgt>Tgtp.R154C
LUAD343552454355245+Missense_MutationSNPGGATCGA-91-8499-01A-11D-2393-08TCGA-91-8499-10A-01D-2393-08g.chr3:4355245G>Ac.820G>Ac.(820-822)Gac>Aacp.D274N
LUAD343554054355405+Missense_MutationSNPCCATCGA-78-8640-01A-11D-2393-08TCGA-78-8640-11A-01D-2393-08g.chr3:4355405C>Ac.980C>Ac.(979-981)gCc>gAcp.A327D
OV343549904354990+Missense_MutationSNPGGATCGA-13-1495-01A-01W-0545-08TCGA-13-1495-10A-01D-0472-08g.chr3:4354990G>Ac.565G>Ac.(565-567)Gac>Aacp.D189N
PRAD343547864354786+Missense_MutationSNPCCATCGA-XK-AAIW-01A-11D-A41K-08TCGA-XK-AAIW-10A-01D-A41N-08g.chr3:4354786C>Ac.361C>Ac.(361-363)Ctg>Atgp.L121M
READ343554314355431+Nonsense_MutationSNPCCTTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr3:4355431C>Tc.1006C>Tc.(1006-1008)Cga>Tgap.R336*
SKCM343451134345113+Missense_MutationSNPAACTCGA-D9-A6EC-06A-11D-A30X-08TCGA-D9-A6EC-10A-01D-A30X-08g.chr3:4345113A>Cc.59A>Cc.(58-60)aAg>aCgp.K20T
SKCM343547244354724+Missense_MutationSNPCCTTCGA-ER-A3PL-06A-11D-A23B-08TCGA-ER-A3PL-10A-01D-A23B-08g.chr3:4354724C>Tc.299C>Tc.(298-300)tCa>tTap.S100L
SKCM343548174354817+Missense_MutationSNPGGATCGA-GN-A4U3-06A-11D-A32N-08TCGA-GN-A4U3-10F-01D-A32N-08g.chr3:4354817G>Ac.392G>Ac.(391-393)aGa>aAap.R131K
SKCM343549884354988+Missense_MutationSNPCCTTCGA-FW-A3R5-06A-11D-A23B-08TCGA-FW-A3R5-10A-01D-A23B-08g.chr3:4354988C>Tc.563C>Tc.(562-564)tCc>tTcp.S188F
SKCM343553874355387+Missense_MutationSNPCCTTCGA-EE-A2M6-06A-12D-A197-08TCGA-EE-A2M6-10A-01D-A199-08g.chr3:4355387C>Tc.962C>Tc.(961-963)cCc>cTcp.P321L
SKCM343553984355398+Missense_MutationSNPGGATCGA-ER-A19H-06A-12D-A196-08TCGA-ER-A19H-10A-01D-A198-08g.chr3:4355398G>Ac.973G>Ac.(973-975)Ggc>Agcp.G325S
SKCM343553994355399+Missense_MutationSNPGGATCGA-ER-A19H-06A-12D-A196-08TCGA-ER-A19H-10A-01D-A198-08g.chr3:4355399G>Ac.974G>Ac.(973-975)gGc>gAcp.G325D
SKCM343554074355407+Missense_MutationSNPCCTTCGA-EE-A2GL-06A-11D-A196-08TCGA-EE-A2GL-10A-01D-A198-08g.chr3:4355407C>Tc.982C>Tc.(982-984)Cct>Tctp.P328S
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-CN343551764355176single base substitutionGCdownstream_gene_variant
BLCA-CN343551764355176single base substitutionGCintron_variant
BLCA-CN343551764355176single base substitutionGCmissense_variantD251H751G>C
BRCA-EU343408184340818single base substitutionTGupstream_gene_variant
BRCA-EU343414744341475deletion of <=200bpAC-upstream_gene_variant
BRCA-EU343423234342323single base substitutionGCupstream_gene_variant
BRCA-EU343443684344368single base substitutionAGupstream_gene_variant
BRCA-EU343449404344940single base substitutionGAupstream_gene_variant
BRCA-EU343456764345676single base substitutionCTexon_variant
BRCA-EU343456764345676single base substitutionCTintron_variant
BRCA-EU343475814347581single base substitutionTCintron_variant
BRCA-EU343507654350765single base substitutionGCintron_variant
BRCA-EU343523794352379single base substitutionAGintron_variant
BRCA-EU343588484358848single base substitutionCT3_prime_UTR_variant
BRCA-EU343588484358848single base substitutionCTdownstream_gene_variant
BRCA-EU343588484358848single base substitutionCTmissense_variantT519M1556C>T
BRCA-EU343588484358848single base substitutionCTmissense_variantT658M1973C>T
BRCA-EU343597234359723single base substitutionGCdownstream_gene_variant
BRCA-EU343609934360993single base substitutionCAdownstream_gene_variant
BRCA-EU343613964361396single base substitutionGAdownstream_gene_variant
BRCA-EU343617094361709single base substitutionGTdownstream_gene_variant
BRCA-EU343637684363768single base substitutionTGdownstream_gene_variant
BRCA-FR343415794341579single base substitutionGAupstream_gene_variant
BRCA-FR343637684363768single base substitutionTGdownstream_gene_variant
BRCA-US343457664345766single base substitutionCTexon_variant
BRCA-US343457664345766single base substitutionCTintron_variant
BRCA-US343547694354769deletion of <=200bpT-exon_variant
BRCA-US343547694354769deletion of <=200bpT-frameshift_variantV115
BRCA-US343547694354769deletion of <=200bpT-intron_variant
BRCA-US343553724355372single base substitutionGCdownstream_gene_variant
BRCA-US343553724355372single base substitutionGCexon_variant
BRCA-US343553724355372single base substitutionGCintron_variant
BRCA-US343553724355372single base substitutionGCmissense_variantG177A530G>C
BRCA-US343553724355372single base substitutionGCmissense_variantG316A947G>C
BRCA-US343553724355372single base substitutionGCmissense_variantG80A239G>C
BTCA-JP343547054354705single base substitutionGTexon_variant
BTCA-JP343547054354705single base substitutionGTintron_variant
BTCA-JP343547054354705single base substitutionGTstop_gainedE94*280G>T
CESC-US343451184345118single base substitutionGAexon_variant
CESC-US343451184345118single base substitutionGAmissense_variantE22K64G>A
CESC-US343451184345118single base substitutionGAupstream_gene_variant
CESC-US343547624354762single base substitutionGAexon_variant
CESC-US343547624354762single base substitutionGAintron_variant
CESC-US343547624354762single base substitutionGAmissense_variantE113K337G>A
CESC-US343580974358097single base substitutionCT3_prime_UTR_variant
CESC-US343580974358097single base substitutionCTdownstream_gene_variant
CESC-US343580974358097single base substitutionCTmissense_variantR172W514C>T
CESC-US343580974358097single base substitutionCTmissense_variantR269W805C>T
CESC-US343580974358097single base substitutionCTmissense_variantR408W1222C>T
CESC-US343581394358139single base substitutionGA3_prime_UTR_variant
CESC-US343581394358139single base substitutionGAdownstream_gene_variant
CESC-US343581394358139single base substitutionGAmissense_variantE186K556G>A
CESC-US343581394358139single base substitutionGAmissense_variantE283K847G>A
CESC-US343581394358139single base substitutionGAmissense_variantE422K1264G>A
CESC-US343586814358681single base substitutionGC3_prime_UTR_variant
CESC-US343586814358681single base substitutionGCdownstream_gene_variant
CESC-US343586814358681single base substitutionGCmissense_variantL463F1389G>C
CESC-US343586814358681single base substitutionGCmissense_variantL602F1806G>C
COAD-US343451504345150single base substitutionCTexon_variant
COAD-US343451504345150single base substitutionCTsynonymous_variantC32C96C>T
COAD-US343451504345150single base substitutionCTupstream_gene_variant
COAD-US343546974354697single base substitutionGAexon_variant
COAD-US343546974354697single base substitutionGAintron_variant
COAD-US343546974354697single base substitutionGAmissense_variantR91H272G>A
COAD-US343547694354769deletion of <=200bpT-exon_variant
COAD-US343547694354769deletion of <=200bpT-frameshift_variantV115
COAD-US343547694354769deletion of <=200bpT-intron_variant
COAD-US343548754354875single base substitutionCTdownstream_gene_variant
COAD-US343548754354875single base substitutionCTexon_variant
COAD-US343548754354875single base substitutionCTintron_variant
COAD-US343548754354875single base substitutionCTsynonymous_variantG150G450C>T
COAD-US343549054354905single base substitutionGAdownstream_gene_variant
COAD-US343549054354905single base substitutionGAexon_variant
COAD-US343549054354905single base substitutionGAintron_variant
COAD-US343549054354905single base substitutionGAsynonymous_variantP160P480G>A
COAD-US343586204358620single base substitutionGA3_prime_UTR_variant
COAD-US343586204358620single base substitutionGAdownstream_gene_variant
COAD-US343586204358620single base substitutionGAmissense_variantG443D1328G>A
COAD-US343586204358620single base substitutionGAmissense_variantG582D1745G>A
COCA-CN343449364344936single base substitutionTGupstream_gene_variant
COCA-CN343453874345387single base substitutionCTexon_variant
COCA-CN343453874345387single base substitutionCTintron_variant
COCA-CN343453874345387single base substitutionCTmissense_variantP11L32C>T
COCA-CN343551484355148single base substitutionAGdownstream_gene_variant
COCA-CN343551484355148single base substitutionAGintron_variant
COCA-CN343551484355148single base substitutionAGsynonymous_variantV241V723A>G
COCA-CN343553574355357single base substitutionCTdownstream_gene_variant
COCA-CN343553574355357single base substitutionCTexon_variant
COCA-CN343553574355357single base substitutionCTintron_variant
COCA-CN343553574355357single base substitutionCTmissense_variantS172L515C>T
COCA-CN343553574355357single base substitutionCTmissense_variantS311L932C>T
COCA-CN343553574355357single base substitutionCTmissense_variantS75L224C>T
COCA-CN343582864358286single base substitutionCT3_prime_UTR_variant
COCA-CN343582864358286single base substitutionCTdownstream_gene_variant
COCA-CN343582864358286single base substitutionCTmissense_variantR332C994C>T
COCA-CN343582864358286single base substitutionCTmissense_variantR471C1411C>T
EOPC-DE343440574344057single base substitutionTCupstream_gene_variant
EOPC-DE343548964354896single base substitutionAGdownstream_gene_variant
EOPC-DE343548964354896single base substitutionAGexon_variant
EOPC-DE343548964354896single base substitutionAGintron_variant
EOPC-DE343548964354896single base substitutionAGsynonymous_variantE157E471A>G
ESAD-UK343412414341241single base substitutionTGupstream_gene_variant
ESAD-UK343424304342430single base substitutionGAupstream_gene_variant
ESAD-UK343430484343048single base substitutionCTupstream_gene_variant
ESAD-UK343430854343085single base substitutionACupstream_gene_variant
ESAD-UK343437594343759single base substitutionCGupstream_gene_variant
ESAD-UK343439604343960single base substitutionATupstream_gene_variant
ESAD-UK343449714344971single base substitutionGAupstream_gene_variant
ESAD-UK343452654345265single base substitutionCGintron_variant
ESAD-UK343452654345265single base substitutionCGupstream_gene_variant
ESAD-UK343472304347230single base substitutionTAintron_variant
ESAD-UK343499134349913single base substitutionGAintron_variant
ESAD-UK343499454349945single base substitutionCTintron_variant
ESAD-UK343555674355567single base substitutionTA3_prime_UTR_variant
ESAD-UK343555674355567single base substitutionTAdownstream_gene_variant
ESAD-UK343555674355567single base substitutionTAintron_variant
ESAD-UK343573694357369single base substitutionAGdownstream_gene_variant
ESAD-UK343573694357369single base substitutionAGintron_variant
ESAD-UK343575164357516single base substitutionAGdownstream_gene_variant
ESAD-UK343575164357516single base substitutionAGintron_variant
ESAD-UK343588324358832single base substitutionGA3_prime_UTR_variant
ESAD-UK343588324358832single base substitutionGAdownstream_gene_variant
ESAD-UK343588324358832single base substitutionGAmissense_variantV514I1540G>A
ESAD-UK343588324358832single base substitutionGAmissense_variantV653I1957G>A
ESAD-UK343588494358849single base substitutionGA3_prime_UTR_variant
ESAD-UK343588494358849single base substitutionGAdownstream_gene_variant
ESAD-UK343588494358849single base substitutionGAsynonymous_variantT519T1557G>A
ESAD-UK343588494358849single base substitutionGAsynonymous_variantT658T1974G>A
ESAD-UK343597454359746deletion of <=200bpAC-downstream_gene_variant
ESAD-UK343601124360112single base substitutionGAdownstream_gene_variant
ESAD-UK343607674360767single base substitutionGAdownstream_gene_variant
ESAD-UK343610224361022single base substitutionGAdownstream_gene_variant
ESAD-UK343614064361406single base substitutionCAdownstream_gene_variant
ESAD-UK343614284361428single base substitutionTCdownstream_gene_variant
ESAD-UK343634254363425single base substitutionGTdownstream_gene_variant
ESAD-UK343636644363664single base substitutionACdownstream_gene_variant
LGG-US343547914354791single base substitutionCTdownstream_gene_variant
LGG-US343547914354791single base substitutionCTexon_variant
LGG-US343547914354791single base substitutionCTintron_variant
LGG-US343547914354791single base substitutionCTsynonymous_variantC122C366C>T
LGG-US343551724355172single base substitutionCGdownstream_gene_variant
LGG-US343551724355172single base substitutionCGintron_variant
LGG-US343551724355172single base substitutionCGsynonymous_variantA249A747C>G
LGG-US343554084355408insertion of <=200bp-T3_prime_UTR_variant
LGG-US343554084355408insertion of <=200bp-Tdownstream_gene_variant
LGG-US343554084355408insertion of <=200bp-Tframeshift_variantP189L?
LGG-US343554084355408insertion of <=200bp-Tframeshift_variantP328L?
LGG-US343554084355408insertion of <=200bp-Tframeshift_variantP92L?
LGG-US343554084355408insertion of <=200bp-Tintron_variant
LGG-US343581854358185single base substitutionAG3_prime_UTR_variant
LGG-US343581854358185single base substitutionAGdownstream_gene_variant
LGG-US343581854358185single base substitutionAGmissense_variantN201S602A>G
LGG-US343581854358185single base substitutionAGmissense_variantN298S893A>G
LGG-US343581854358185single base substitutionAGmissense_variantN437S1310A>G
LINC-JP343453324345332single base substitutionGA5_prime_UTR_variant
LINC-JP343453324345332single base substitutionGAexon_variant
LINC-JP343453324345332single base substitutionGAintron_variant
LINC-JP343483844348384single base substitutionAGintron_variant
LINC-JP343539504353950single base substitutionTGintron_variant
LINC-JP343548624354862single base substitutionCTdownstream_gene_variant
LINC-JP343548624354862single base substitutionCTexon_variant
LINC-JP343548624354862single base substitutionCTintron_variant
LINC-JP343548624354862single base substitutionCTmissense_variantT146M437C>T
LIRI-JP343401614340161single base substitutionTCupstream_gene_variant
LIRI-JP343410594341059single base substitutionTCupstream_gene_variant
LIRI-JP343411664341166single base substitutionGAupstream_gene_variant
LIRI-JP343418124341812single base substitutionCTupstream_gene_variant
LIRI-JP343475104347510single base substitutionAGintron_variant
LIRI-JP343487404348740single base substitutionATintron_variant
LIRI-JP343508964350896single base substitutionACintron_variant
LIRI-JP343522984352298single base substitutionTGintron_variant
LIRI-JP343527664352766single base substitutionAGintron_variant
LIRI-JP343537004353700single base substitutionTCintron_variant
LIRI-JP343544564354456deletion of <=200bpT-intron_variant
LIRI-JP343553744355374single base substitutionATdownstream_gene_variant
LIRI-JP343553744355374single base substitutionATexon_variant
LIRI-JP343553744355374single base substitutionATintron_variant
LIRI-JP343553744355374single base substitutionATmissense_variantN178Y532A>T
LIRI-JP343553744355374single base substitutionATmissense_variantN317Y949A>T
LIRI-JP343553744355374single base substitutionATmissense_variantN81Y241A>T
LIRI-JP343566894356689single base substitutionTAdownstream_gene_variant
LIRI-JP343566894356689single base substitutionTAintron_variant
LIRI-JP343579294357929single base substitutionCT3_prime_UTR_variant
LIRI-JP343579294357929single base substitutionCTdownstream_gene_variant
LIRI-JP343579294357929single base substitutionCTexon_variant
LIRI-JP343579294357929single base substitutionCTstop_gainedR116*346C>T
LIRI-JP343579294357929single base substitutionCTstop_gainedR213*637C>T
LIRI-JP343579294357929single base substitutionCTstop_gainedR352*1054C>T
LIRI-JP343582584358258single base substitutionTA3_prime_UTR_variant
LIRI-JP343582584358258single base substitutionTAdownstream_gene_variant
LIRI-JP343582584358258single base substitutionTAsynonymous_variantP322P966T>A
LIRI-JP343582584358258single base substitutionTAsynonymous_variantP461P1383T>A
LIRI-JP343582614358261single base substitutionTG3_prime_UTR_variant
LIRI-JP343582614358261single base substitutionTGdownstream_gene_variant
LIRI-JP343582614358261single base substitutionTGmissense_variantH323Q969T>G
LIRI-JP343582614358261single base substitutionTGmissense_variantH462Q1386T>G
LIRI-JP343585254358525single base substitutionCT3_prime_UTR_variant
LIRI-JP343585254358525single base substitutionCTdownstream_gene_variant
LIRI-JP343585254358525single base substitutionCTsynonymous_variantP411P1233C>T
LIRI-JP343585254358525single base substitutionCTsynonymous_variantP550P1650C>T
LIRI-JP343611444361144single base substitutionGAdownstream_gene_variant
LIRI-JP343614364361436single base substitutionAGdownstream_gene_variant
LIRI-JP343615814361581single base substitutionTCdownstream_gene_variant
LIRI-JP343617034361703single base substitutionACdownstream_gene_variant
LIRI-JP343626984362698single base substitutionACdownstream_gene_variant
LIRI-JP343635824363582single base substitutionATdownstream_gene_variant
LUSC-KR343449364344936single base substitutionTGupstream_gene_variant
LUSC-KR343450334345033single base substitutionGA5_prime_UTR_variant
LUSC-KR343450334345033single base substitutionGAupstream_gene_variant
LUSC-KR343632684363268single base substitutionGCdownstream_gene_variant
MALY-DE343413394341339insertion of <=200bp-Aupstream_gene_variant
MALY-DE343425634342564deletion of <=200bpAC-upstream_gene_variant
MALY-DE343477984347798single base substitutionTCintron_variant
MELA-AU343399894339989single base substitutionGAupstream_gene_variant
MELA-AU343401384340138single base substitutionAGupstream_gene_variant
MELA-AU343414814341481single base substitutionGAupstream_gene_variant
MELA-AU343416844341684single base substitutionGAupstream_gene_variant
MELA-AU343418864341886single base substitutionCTupstream_gene_variant
MELA-AU343423374342337single base substitutionAGupstream_gene_variant
MELA-AU343424304342430single base substitutionGAupstream_gene_variant
MELA-AU343425634342564deletion of <=200bpAC-upstream_gene_variant
MELA-AU343428284342828single base substitutionGAupstream_gene_variant
MELA-AU343429634342963single base substitutionGAupstream_gene_variant
MELA-AU343430174343017single base substitutionGAupstream_gene_variant
MELA-AU343439164343916single base substitutionCTupstream_gene_variant
MELA-AU343440884344088single base substitutionGAupstream_gene_variant
MELA-AU343446084344608single base substitutionGAupstream_gene_variant
MELA-AU343446204344620single base substitutionGAupstream_gene_variant
MELA-AU343446474344647single base substitutionAGupstream_gene_variant
MELA-AU343447524344752single base substitutionACupstream_gene_variant
MELA-AU343449504344950single base substitutionGAupstream_gene_variant
MELA-AU343449824344982single base substitutionGAupstream_gene_variant
MELA-AU343458254345825single base substitutionTCintron_variant
MELA-AU343469634346964multiple base substitution (>=2bp and <=200bp)TTGGintron_variant
MELA-AU343471584347158single base substitutionACintron_variant
MELA-AU343473294347329single base substitutionCTintron_variant
MELA-AU343478284347828insertion of <=200bp-GTintron_variant
MELA-AU343481874348187single base substitutionGAintron_variant
MELA-AU343482714348271single base substitutionTCintron_variant
MELA-AU343491544349155multiple base substitution (>=2bp and <=200bp)CCTTintron_variant
MELA-AU343494664349466single base substitutionATintron_variant
MELA-AU343497514349751single base substitutionCTintron_variant
MELA-AU343506234350623single base substitutionGAintron_variant
MELA-AU343508444350846deletion of <=200bpATC-intron_variant
MELA-AU343521574352157single base substitutionGCintron_variant
MELA-AU343525154352515single base substitutionCTintron_variant
MELA-AU343532284353228single base substitutionCTintron_variant
MELA-AU343544244354424single base substitutionGAintron_variant
MELA-AU343553874355387single base substitutionCT3_prime_UTR_variant
MELA-AU343553874355387single base substitutionCTdownstream_gene_variant
MELA-AU343553874355387single base substitutionCTintron_variant
MELA-AU343553874355387single base substitutionCTmissense_variantP182L545C>T
MELA-AU343553874355387single base substitutionCTmissense_variantP321L962C>T
MELA-AU343553874355387single base substitutionCTmissense_variantP85L254C>T
MELA-AU343567454356745single base substitutionAGdownstream_gene_variant
MELA-AU343567454356745single base substitutionAGintron_variant
MELA-AU343572404357240single base substitutionCTdownstream_gene_variant
MELA-AU343572404357240single base substitutionCTintron_variant
MELA-AU343575114357512multiple base substitution (>=2bp and <=200bp)ACTTdownstream_gene_variant
MELA-AU343575114357512multiple base substitution (>=2bp and <=200bp)ACTTintron_variant
MELA-AU343588314358831single base substitutionCT3_prime_UTR_variant
MELA-AU343588314358831single base substitutionCTdownstream_gene_variant
MELA-AU343588314358831single base substitutionCTsynonymous_variantF513F1539C>T
MELA-AU343588314358831single base substitutionCTsynonymous_variantF652F1956C>T
MELA-AU343602084360208single base substitutionGAdownstream_gene_variant
MELA-AU343605624360562single base substitutionTCdownstream_gene_variant
MELA-AU343608884360888single base substitutionTCdownstream_gene_variant
MELA-AU343610614361061insertion of <=200bp-Adownstream_gene_variant
MELA-AU343611234361123single base substitutionGCdownstream_gene_variant
MELA-AU343613424361342single base substitutionCTdownstream_gene_variant
MELA-AU343616684361669multiple base substitution (>=2bp and <=200bp)CCTTdownstream_gene_variant
MELA-AU343620364362037multiple base substitution (>=2bp and <=200bp)CCTTdownstream_gene_variant
MELA-AU343625184362518single base substitutionGAdownstream_gene_variant
MELA-AU343628794362881deletion of <=200bpAGA-downstream_gene_variant
MELA-AU343631694363169single base substitutionAGdownstream_gene_variant
MELA-AU343632004363200single base substitutionGAdownstream_gene_variant
ORCA-IN343588484358848single base substitutionCT3_prime_UTR_variant
ORCA-IN343588484358848single base substitutionCTdownstream_gene_variant
ORCA-IN343588484358848single base substitutionCTmissense_variantT519M1556C>T
ORCA-IN343588484358848single base substitutionCTmissense_variantT658M1973C>T
OV-AU343430084343008single base substitutionGCupstream_gene_variant
OV-AU343489024348902single base substitutionTGintron_variant
OV-AU343589314358931single base substitutionTC3_prime_UTR_variant
OV-AU343589314358931single base substitutionTCdownstream_gene_variant
PACA-AU343463804346380insertion of <=200bp-Tintron_variant
PACA-AU343540344354034single base substitutionAGintron_variant
PACA-AU343549054354905single base substitutionGAdownstream_gene_variant
PACA-AU343549054354905single base substitutionGAexon_variant
PACA-AU343549054354905single base substitutionGAintron_variant
PACA-AU343549054354905single base substitutionGAsynonymous_variantP160P480G>A
PACA-AU343600284360028single base substitutionTCdownstream_gene_variant
PACA-AU343639074363907single base substitutionCGdownstream_gene_variant
PACA-AU343639414363941single base substitutionCGdownstream_gene_variant
PACA-CA343401754340175single base substitutionGAupstream_gene_variant
PACA-CA343417364341736single base substitutionATupstream_gene_variant
PACA-CA343488514348851single base substitutionCTintron_variant
PACA-CA343489574348957single base substitutionGAintron_variant
PACA-CA343489584348958single base substitutionCAintron_variant
PACA-CA343515984351598single base substitutionGAintron_variant
PACA-CA343535814353581deletion of <=200bpA-intron_variant
PACA-CA343559854355985single base substitutionGA3_prime_UTR_variant
PACA-CA343559854355985single base substitutionGAdownstream_gene_variant
PACA-CA343559854355985single base substitutionGAintron_variant
PACA-CA343616374361637single base substitutionAGdownstream_gene_variant
PACA-CA343630504363050deletion of <=200bpA-downstream_gene_variant
PBCA-DE343425634342564deletion of <=200bpAC-upstream_gene_variant
PBCA-DE343502814350281single base substitutionCGintron_variant
PBCA-DE343517524351752single base substitutionGAintron_variant
PBCA-DE343546964354696single base substitutionCTexon_variant
PBCA-DE343546964354696single base substitutionCTintron_variant
PBCA-DE343546964354696single base substitutionCTmissense_variantR91C271C>T
PBCA-DE343565594356559insertion of <=200bp-Adownstream_gene_variant
PBCA-DE343565594356559insertion of <=200bp-Aintron_variant
PBCA-DE343569834356983single base substitutionAGdownstream_gene_variant
PBCA-DE343569834356983single base substitutionAGintron_variant
PRAD-UK343534404353440single base substitutionTCintron_variant
PRAD-UK343557984355798single base substitutionGC3_prime_UTR_variant
PRAD-UK343557984355798single base substitutionGCdownstream_gene_variant
PRAD-UK343557984355798single base substitutionGCintron_variant
PRAD-UK343579184357918single base substitutionAG3_prime_UTR_variant
PRAD-UK343579184357918single base substitutionAGdownstream_gene_variant
PRAD-UK343579184357918single base substitutionAGexon_variant
PRAD-UK343579184357918single base substitutionAGmissense_variantK112R335A>G
PRAD-UK343579184357918single base substitutionAGmissense_variantK209R626A>G
PRAD-UK343579184357918single base substitutionAGmissense_variantK348R1043A>G
RECA-EU343436874343687single base substitutionCAupstream_gene_variant
SKCA-BR343494364349436single base substitutionCTintron_variant
SKCA-BR343497564349757deletion of <=200bpTG-intron_variant
SKCA-BR343532984353298single base substitutionCGintron_variant
SKCA-BR343538174353817single base substitutionTCintron_variant
SKCA-BR343577304357731deletion of <=200bpCA-downstream_gene_variant
SKCA-BR343577304357731deletion of <=200bpCA-intron_variant
SKCM-US343451134345113single base substitutionACexon_variant
SKCM-US343451134345113single base substitutionACmissense_variantK20T59A>C
SKCM-US343451134345113single base substitutionACupstream_gene_variant
SKCM-US343547244354724single base substitutionCTexon_variant
SKCM-US343547244354724single base substitutionCTintron_variant
SKCM-US343547244354724single base substitutionCTmissense_variantS100L299C>T
SKCM-US343549884354988single base substitutionCTdownstream_gene_variant
SKCM-US343549884354988single base substitutionCTintron_variant
SKCM-US343549884354988single base substitutionCTmissense_variantS188F563C>T
SKCM-US343553874355387single base substitutionCT3_prime_UTR_variant
SKCM-US343553874355387single base substitutionCTdownstream_gene_variant
SKCM-US343553874355387single base substitutionCTintron_variant
SKCM-US343553874355387single base substitutionCTmissense_variantP182L545C>T
SKCM-US343553874355387single base substitutionCTmissense_variantP321L962C>T
SKCM-US343553874355387single base substitutionCTmissense_variantP85L254C>T
SKCM-US343554074355407single base substitutionCT3_prime_UTR_variant
SKCM-US343554074355407single base substitutionCTdownstream_gene_variant
SKCM-US343554074355407single base substitutionCTintron_variant
SKCM-US343554074355407single base substitutionCTmissense_variantP189S565C>T
SKCM-US343554074355407single base substitutionCTmissense_variantP328S982C>T
SKCM-US343554074355407single base substitutionCTmissense_variantP92S274C>T
STAD-US343451014345101single base substitutionAGexon_variant
STAD-US343451014345101single base substitutionAGmissense_variantE16G47A>G
STAD-US343451014345101single base substitutionAGupstream_gene_variant
STAD-US343546644354671deletion of <=200bpCTCCCTGC-exon_variant
STAD-US343546644354671deletion of <=200bpCTCCCTGC-frameshift_variantTPC80
STAD-US343546644354671deletion of <=200bpCTCCCTGC-intron_variant
STAD-US343551484355148single base substitutionAGdownstream_gene_variant
STAD-US343551484355148single base substitutionAGintron_variant
STAD-US343551484355148single base substitutionAGsynonymous_variantV241V723A>G
THCA-SA343450334345033single base substitutionGA5_prime_UTR_variant
THCA-SA343450334345033single base substitutionGAupstream_gene_variant
THCA-SA343552654355265single base substitutionTCdownstream_gene_variant
THCA-SA343552654355265single base substitutionTCintron_variant
THCA-SA343552654355265single base substitutionTCsynonymous_variantH280H840T>C
UCEC-US343548854354885single base substitutionCTdownstream_gene_variant
UCEC-US343548854354885single base substitutionCTexon_variant
UCEC-US343548854354885single base substitutionCTintron_variant
UCEC-US343548854354885single base substitutionCTmissense_variantR154C460C>T
UCEC-US343551994355199single base substitutionCAdownstream_gene_variant
UCEC-US343551994355199single base substitutionCAintron_variant
UCEC-US343551994355199single base substitutionCAsynonymous_variantL258L774C>A
UCEC-US343580244358024single base substitutionAG3_prime_UTR_variant
UCEC-US343580244358024single base substitutionAGdownstream_gene_variant
UCEC-US343580244358024single base substitutionAGexon_variant
UCEC-US343580244358024single base substitutionAGsynonymous_variantE147E441A>G
UCEC-US343580244358024single base substitutionAGsynonymous_variantE244E732A>G
UCEC-US343580244358024single base substitutionAGsynonymous_variantE383E1149A>G
UCEC-US343581034358103single base substitutionTA3_prime_UTR_variant
UCEC-US343581034358103single base substitutionTAdownstream_gene_variant
UCEC-US343581034358103single base substitutionTAmissense_variantS174T520T>A
UCEC-US343581034358103single base substitutionTAmissense_variantS271T811T>A
UCEC-US343581034358103single base substitutionTAmissense_variantS410T1228T>A
UCEC-US343582434358243single base substitutionCT3_prime_UTR_variant
UCEC-US343582434358243single base substitutionCTdownstream_gene_variant
UCEC-US343582434358243single base substitutionCTsynonymous_variantL317L951C>T
UCEC-US343582434358243single base substitutionCTsynonymous_variantL456L1368C>T
UCEC-US343582624358262insertion of <=200bp-A3_prime_UTR_variant
UCEC-US343582624358262insertion of <=200bp-Adownstream_gene_variant
UCEC-US343582624358262insertion of <=200bp-Aframeshift_variantE324R?
UCEC-US343582624358262insertion of <=200bp-Aframeshift_variantE463R?
UCEC-US343583914358391single base substitutionCT3_prime_UTR_variant
UCEC-US343583914358391single base substitutionCTdownstream_gene_variant
UCEC-US343583914358391single base substitutionCTstop_gainedR367*1099C>T
UCEC-US343583914358391single base substitutionCTstop_gainedR506*1516C>T
UCEC-US343583924358392single base substitutionGA3_prime_UTR_variant
UCEC-US343583924358392single base substitutionGAdownstream_gene_variant
UCEC-US343583924358392single base substitutionGAmissense_variantR367Q1100G>A
UCEC-US343583924358392single base substitutionGAmissense_variantR506Q1517G>A
UCEC-US343585644358564single base substitutionCT3_prime_UTR_variant
UCEC-US343585644358564single base substitutionCTdownstream_gene_variant
UCEC-US343585644358564single base substitutionCTsynonymous_variantI424I1272C>T
UCEC-US343585644358564single base substitutionCTsynonymous_variantI563I1689C>T
UCEC-US343587554358755single base substitutionTG3_prime_UTR_variant
UCEC-US343587554358755single base substitutionTGdownstream_gene_variant
UCEC-US343587554358755single base substitutionTGmissense_variantF488C1463T>G
UCEC-US343587554358755single base substitutionTGmissense_variantF627C1880T>G
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
TCGA-A3-3311-01COSM1137030c.637A>Gp.T213ASubstitution - Missense3:4313378-4313378+
TCGA-AZ-4313-01COSM5138689c.1482G>Ap.T494TSubstitution - coding silent3:4316673-4316673+
TCGA-E1-5307-01COSM3974417c.366C>Tp.C122CSubstitution - coding silent3:4313107-4313107+
T1221COSM4725216c.4T>Ap.F2ISubstitution - Missense3:4303374-4303374+
TCGA-EE-A2GL-06COSM3594175c.982C>Tp.P328SSubstitution - Missense3:4313723-4313723+
2474090COSM3066679c.1325C>Tp.T442MSubstitution - Missense3:4316516-4316516+
TCGA-Q1-A73S-01COSM4836654c.1222C>Tp.R408WSubstitution - Missense3:4316413-4316413+
TTC466COSM4584369c.1009T>Cp.L337LSubstitution - coding silent3:4313750-4313750+
p1_V-1COSM1738265c.677G>Cp.C226SSubstitution - Missense3:4313418-4313418+
TCGA-D5-6928-01COSM1423180c.450C>Tp.G150GSubstitution - coding silent3:4313191-4313191+
TCGA-HU-A4G8-01COSM4117703c.47A>Gp.E16GSubstitution - Missense3:4303417-4303417+
RK210_C01COSM3767433c.1650C>Tp.P550PSubstitution - coding silent3:4316841-4316841+
TCGA-EE-A2M6-06COSM3594173c.962C>Tp.P321LSubstitution - Missense3:4313703-4313703+
OSCC-GB_01170111COSM5790427c.1973C>Tp.T658MSubstitution - Missense3:4317164-4317164+
TCGA-EK-A2R8-01COSM4822875c.1264G>Ap.E422KSubstitution - Missense3:4316455-4316455+
TCGA-BS-A0UV-01COSM1044882c.1689C>Tp.I563ISubstitution - coding silent3:4316880-4316880+
TCGA-AP-A0LE-01COSM1044880c.1517G>Ap.R506QSubstitution - Missense3:4316708-4316708+
TCGA-AA-3977-01COSM297625c.1959C>Tp.V653VSubstitution - coding silent3:4317150-4317150+
p1_I-2COSM1738265c.677G>Cp.C226SSubstitution - Missense3:4313418-4313418+
HCC52COSM1617606c.437C>Tp.T146MSubstitution - Missense3:4313178-4313178+
TCGA-QH-A65S-01COSM4420522c.747C>Gp.A249ASubstitution - coding silent3:4313488-4313488+
T636COSM4725218c.747C>Ap.A249ASubstitution - coding silent3:4313488-4313488+
PT55COSM5941853c.720G>Ap.M240ISubstitution - Missense3:4313461-4313461+
TCGA-FW-A3R5-06COSM3916067c.563C>Tp.S188FSubstitution - Missense3:4313304-4313304+
HCT15COSM3066661c.362T>Ap.L121QSubstitution - Missense3:4313103-4313103+
TARGET-30-PAPTANCOSM1287835c.4T>Cp.F2LSubstitution - Missense3:4303374-4303374+
H23COSM1196368c.1984G>Ap.A662TSubstitution - Missense3:4317175-4317175+
Pat_06_BCOSM5864548c.433A>Gp.K145ESubstitution - Missense3:4313174-4313174+
ICGC_PA97COSM3670320c.271C>Tp.R91CSubstitution - Missense3:4313012-4313012+
TCGA-FG-8186-01COSM3974419c.1310A>Gp.N437SSubstitution - Missense3:4316501-4316501+
TCGA-B5-A0JY-01COSM1044882c.1689C>Tp.I563ISubstitution - coding silent3:4316880-4316880+
CSCC-44-TCOSM4493096c.409C>Tp.L137LSubstitution - coding silent3:4313150-4313150+
sysucc-880TCOSM4117705c.723A>Gp.V241VSubstitution - coding silent3:4313464-4313464+
ESCC_168COSM5648774c.1666T>Ap.S556TSubstitution - Missense3:4316857-4316857+
PD12805aCOSM3770183c.936_941CATCAG>CTCAp.I313fs*5Complex - frameshift3:4313677-4313682+
SC_9104COSM5569219c.438G>Ap.T146TSubstitution - coding silent3:4313179-4313179+
TCGA-D9-A6EC-06COSM4405311c.59A>Cp.K20TSubstitution - Missense3:4303429-4303429+
TCGA-D1-A16X-01COSM1044874c.1368C>Tp.L456LSubstitution - coding silent3:4316559-4316559+
SNU-C2BCOSM4615338c.441_442insAp.G150fs*18Insertion - Frameshift3:4313182-4313183+
RK261_C02COSM4943972c.949A>Tp.N317YSubstitution - Missense3:4313690-4313690+
PD13761aCOSM5790427c.1973C>Tp.T658MSubstitution - Missense3:4317164-4317164+
TCGA-AM-5821-01COSM3696095c.1745G>Ap.G582DSubstitution - Missense3:4316936-4316936+
TCGA-AM-5820-01COSM3760096c.272G>Ap.R91HSubstitution - Missense3:4313013-4313013+
TCGA-A6-5661-01COSM1423181c.480G>Ap.P160PSubstitution - coding silent3:4313221-4313221+
pfg127TCOSM4765023c.1403_1404insAp.N470fs*5Insertion - Frameshift3:4316594-4316595+
TCGA-AG-A002-01COSM263611c.1006C>Tp.R336*Substitution - Nonsense3:4313747-4313747+
TCGA-BS-A0UV-01COSM1044884c.1880T>Gp.F627CSubstitution - Missense3:4317071-4317071+
TCGA-AP-A0LE-01COSM1044872c.1228T>Ap.S410TSubstitution - Missense3:4316419-4316419+
TCGA-RU-A8FL-01COSM5188532c.1717C>Gp.L573VSubstitution - Missense3:4316908-4316908+
p1_IV-2COSM1738265c.677G>Cp.C226SSubstitution - Missense3:4313418-4313418+
TCGA-B2-4102-01COSM1137029c.45G>Ap.A15ASubstitution - coding silent3:4303415-4303415+
CSCC-27-TCOSM4480438c.241C>Tp.P81SSubstitution - Missense3:4312982-4312982+
SJHGG041_DCOSM4969671c.1314C>Tp.V438VSubstitution - coding silent3:4316505-4316505+
HCC52TCOSM1617606c.437C>Tp.T146MSubstitution - Missense3:4313178-4313178+
TCGA-DG-A2KL-01COSM4851409c.1806G>Cp.L602FSubstitution - Missense3:4316997-4316997+
p1_IV-1COSM1738265c.677G>Cp.C226SSubstitution - Missense3:4313418-4313418+
TCGA-AN-A0AK-01COSM1423177c.344delTp.F116fs*58Deletion - Frameshift3:4313085-4313085+
TCGA-AX-A05Z-01COSM1044870c.1149A>Gp.E383ESubstitution - coding silent3:4316340-4316340+
TCGA-ER-A3PL-06COSM3594171c.299C>Tp.S100LSubstitution - Missense3:4313040-4313040+
RK308_C01COSM3767432c.1383T>Ap.P461PSubstitution - coding silent3:4316574-4316574+
TCGA-AP-A0LH-01COSM1044876c.1387_1388insAp.L464fs*3Insertion - Frameshift3:4316578-4316579+
S10-47754-TPCOSM4991923c.1360delAp.K455fs*10Deletion - Frameshift3:4316551-4316551+
TCGA-DG-A2KH-01COSM4851274c.64G>Ap.E22KSubstitution - Missense3:4303434-4303434+
DLD1COSM3066661c.362T>Ap.L121QSubstitution - Missense3:4313103-4313103+
2474089COSM3066679c.1325C>Tp.T442MSubstitution - Missense3:4316516-4316516+
EOPC-02_tumorCOSM3716600c.471A>Gp.E157ESubstitution - coding silent3:4313212-4313212+
p1_IV-3COSM1738265c.677G>Cp.C226SSubstitution - Missense3:4313418-4313418+
8067240COSM1423181c.480G>Ap.P160PSubstitution - coding silent3:4313221-4313221+
RK280_C01COSM4944390c.1386T>Gp.H462QSubstitution - Missense3:4316577-4316577+
TCGA-AP-A0LM-01COSM1044866c.460C>Tp.R154CSubstitution - Missense3:4313201-4313201+
sysucc-311TCOSM5465880c.932C>Tp.S311LSubstitution - Missense3:4313673-4313673+
TCGA-CK-5916-01COSM1423176c.96C>Tp.C32CSubstitution - coding silent3:4303466-4303466+
L21COSM5369488c.367C>Tp.R123*Substitution - Nonsense3:4313108-4313108+
TCGA-A8-A09N-01COSM446525c.947G>Cp.G316ASubstitution - Missense3:4313688-4313688+
TCGA-A3-3346-01COSM1495585c.679G>Ap.E227KSubstitution - Missense3:4313420-4313420+
TCGA-13-1495-01COSM72608c.565G>Ap.D189NSubstitution - Missense3:4313306-4313306+
TCGA-B5-A0JY-01COSM1044868c.774C>Ap.L258LSubstitution - coding silent3:4313515-4313515+
TCGA-BR-4361-01COSM4117705c.723A>Gp.V241VSubstitution - coding silent3:4313464-4313464+
pfg129TCOSM4749011c.604A>Gp.N202DSubstitution - Missense3:4313345-4313345+
Pat_01_BCOSM5369488c.367C>Tp.R123*Substitution - Nonsense3:4313108-4313108+
RK308_C01COSM3767431c.1054C>Tp.R352*Substitution - Nonsense3:4316245-4316245+
2492729COSM5725863c.341C>Tp.P114LSubstitution - Missense3:4313082-4313082+
TCGA-AA-3815-01COSM1423179c.442delAp.G150fs*24Deletion - Frameshift3:4313183-4313183+
BD165TCOSM5506721c.280G>Tp.E94*Substitution - Nonsense3:4313021-4313021+
TCGA-CM-5861-01COSM1423177c.344delTp.F116fs*58Deletion - Frameshift3:4313085-4313085+
TCGA-B5-A0JV-01COSM1044878c.1516C>Tp.R506*Substitution - Nonsense3:4316707-4316707+
B86-TumorCOSM4005544c.751G>Cp.D251HSubstitution - Missense3:4313492-4313492+
LIM2551COSM4644532c.219C>Tp.P73PSubstitution - coding silent3:4312960-4312960+
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.475244;Hs.4753003p26.16098341230906|dbSNP|BC008931|C/G|coding|Leu115Val|611|Candidate;
1231320|dbSNP|BC008931|C/G|coding|Leu115Val|611|Validated
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
-AFrameshiftp.L464Afs*3c.1388dupA34358263UCEC
AGMissensep.N437Sc.1310A>G34358185LGG
AGMissensep.T213Ac.637A>G34355062RCCC
CCTTMissensep.P328Sc.981_982delinsTT34355406CM
CGMissensep.L283Vc.847C>G34355272HNSC
CTMissensep.L267Fc.799C>T34355224CM
CTMissensep.P307Lc.920C>T34355345CM
CTMissensep.P321Lc.962C>T34355387CM
CTNonsensep.R506*c.1516C>T34358391UCEC
CTSynonymousp.C122Cc.366C>T34354791LGG
CTSynonymousp.S88Sc.264C>T34354689CM
CTTCMissensep.S176Fc.527_528delinsTC34354952CM
GAMissensep.D189Nc.565G>A34354990OV
GAMissensep.R506Qc.1517G>A34358392UCEC
GAMissensep.V412Ic.1234G>A34358109CM
GCMissensep.G316Ac.947G>C34355372BRCA
GGAAMissensep.G325Nc.973_974delinsAA34355398CM
GTMissensep.D415Yc.1243G>T34358118LUAD
TAMissensep.S410Tc.1228T>A34358103UCEC
TCMissensep.F2Lc.4T>C34345058NB