ASB6
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA9132400070132400070+Nonstop_MutationSNPCCGTCGA-XF-AAMG-01A-11D-A42E-08TCGA-XF-AAMG-10A-01D-A42H-08g.chr9:132400070C>Gc.1265G>Cc.(1264-1266)tGa>tCap.*422S
BLCA9132400323132400323+Missense_MutationSNPGGCTCGA-MV-A51V-01A-11D-A26M-08TCGA-MV-A51V-10A-01D-A26K-08g.chr9:132400323G>Cc.1012C>Gc.(1012-1014)Cag>Gagp.Q338E
BLCA9132404198132404198+SilentSNPGGTTCGA-FD-A62P-01A-32D-A30E-08TCGA-FD-A62P-10A-01D-A30H-08g.chr9:132404198G>Tc.81C>Ac.(79-81)atC>atAp.I27I
BRCA9132402823132402823+Missense_MutationSNPCCTTCGA-BH-A18P-01A-11D-A12B-09TCGA-BH-A18P-11A-43D-A12B-09g.chr9:132402823C>Tc.292G>Ac.(292-294)Gaa>Aaap.E98K
BRCA9132404204132404204+SilentSNPCCATCGA-AO-A0J2-01A-11W-A050-09TCGA-AO-A0J2-10A-01W-A055-09g.chr9:132404204C>Ac.75G>Tc.(73-75)ctG>ctTp.L25L
COAD9132400185132400185+SilentSNPGGTTCGA-G4-6586-01A-11D-1771-10TCGA-G4-6586-10A-01D-1771-10g.chr9:132400185G>Tc.1150C>Ac.(1150-1152)Cgg>Aggp.R384R
COAD9132400271132400271+Missense_MutationSNPGGATCGA-AA-3864-01A-01W-0995-10TCGA-AA-3864-10A-01W-0995-10g.chr9:132400271G>Ac.1064C>Tc.(1063-1065)gCg>gTgp.A355V
COAD9132400453132400453+SilentSNPCCTTCGA-D5-6540-01A-11D-1719-10TCGA-D5-6540-10A-01D-1719-10g.chr9:132400453C>Tc.882G>Ac.(880-882)gcG>gcAp.A294A
COAD9132400869132400869+Missense_MutationSNPCCTTCGA-AA-3864-01A-01W-0995-10TCGA-AA-3864-10A-01W-0995-10g.chr9:132400869C>Tc.581G>Ac.(580-582)cGt>cAtp.R194H
COADREAD9132400185132400185+SilentSNPGGTTCGA-G4-6586-01A-11D-1771-10TCGA-G4-6586-10A-01D-1771-10g.chr9:132400185G>Tc.1150C>Ac.(1150-1152)Cgg>Aggp.R384R
COADREAD9132400271132400271+Missense_MutationSNPGGATCGA-AA-3864-01A-01W-0995-10TCGA-AA-3864-10A-01W-0995-10g.chr9:132400271G>Ac.1064C>Tc.(1063-1065)gCg>gTgp.A355V
COADREAD9132400297132400297+SilentSNPGGATCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr9:132400297G>Ac.1038C>Tc.(1036-1038)ttC>ttTp.F346F
COADREAD9132400453132400453+SilentSNPCCTTCGA-D5-6540-01A-11D-1719-10TCGA-D5-6540-10A-01D-1719-10g.chr9:132400453C>Tc.882G>Ac.(880-882)gcG>gcAp.A294A
COADREAD9132400869132400869+Missense_MutationSNPCCTTCGA-AA-3864-01A-01W-0995-10TCGA-AA-3864-10A-01W-0995-10g.chr9:132400869C>Tc.581G>Ac.(580-582)cGt>cAtp.R194H
DLBC9132401753132401753+SilentSNPGGATCGA-GR-7353-01A-11D-2210-10TCGA-GR-7353-10A-01D-2210-10g.chr9:132401753G>Ac.330C>Tc.(328-330)gcC>gcTp.A110A
ESCA9132400455132400455+Missense_MutationSNPCCATCGA-L5-A891-01A-11D-A36J-09TCGA-L5-A891-11A-21D-A36M-09g.chr9:132400455C>Ac.880G>Tc.(880-882)Gcg>Tcgp.A294S
ESCA9132400502132400502+Missense_MutationSNPCCTTCGA-2H-A9GK-01A-11D-A37C-09TCGA-2H-A9GK-11A-11D-A37F-09g.chr9:132400502C>Tc.833G>Ac.(832-834)cGc>cAcp.R278H
ESCA9132400710132400710+Missense_MutationSNPCCATCGA-R6-A6Y0-01B-11D-A33E-09TCGA-R6-A6Y0-10A-01D-A33H-09g.chr9:132400710C>Ac.625G>Tc.(625-627)Gat>Tatp.D209Y
ESCA9132400881132400881+Missense_MutationSNPGGTTCGA-IG-A97H-01A-11D-A387-09TCGA-IG-A97H-10A-01D-A38A-09g.chr9:132400881G>Tc.569C>Ac.(568-570)aCt>aAtp.T190N
GBMLGG9132401579132401580+Frame_Shift_DelDELCTCT-TCGA-HT-7616-01A-11D-2253-08TCGA-HT-7616-10A-01D-2253-08g.chr9:132401579_132401580delCTc.412_413delAGc.(412-414)agtfsp.S139fs
GBMLGG9132404200132404200+Missense_MutationSNPTTCTCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr9:132404200T>Cc.79A>Gc.(79-81)Atc>Gtcp.I27V
HNSC9132400134132400134+Missense_MutationSNPGGCTCGA-4P-AA8J-01A-11D-A391-08TCGA-4P-AA8J-10A-01D-A394-08g.chr9:132400134G>Cc.1201C>Gc.(1201-1203)Ctg>Gtgp.L401V
HNSC9132400246132400246+SilentSNPGGATCGA-CV-A6K1-01A-11D-A31L-08TCGA-CV-A6K1-10A-01D-A31J-08g.chr9:132400246G>Ac.1089C>Tc.(1087-1089)ttC>ttTp.F363F
HNSC9132401583132401583+Missense_MutationSNPCCTTCGA-CV-5442-01A-01D-1512-08TCGA-CV-5442-11A-01D-1512-08g.chr9:132401583C>Tc.409G>Ac.(409-411)Gag>Aagp.E137K
KIPAN9132400146132400146+Nonsense_MutationSNPTTATCGA-B1-A656-01A-11D-A31X-10TCGA-B1-A656-10A-01D-A31X-10g.chr9:132400146T>Ac.1189A>Tc.(1189-1191)Aaa>Taap.K397*
KIPAN9132401522132401522+Missense_MutationSNPAAGTCGA-B0-5095-01A-01D-1421-08TCGA-B0-5095-11A-01D-1421-08g.chr9:132401522A>Gc.470T>Cc.(469-471)cTc>cCcp.L157P
KIRC9132401522132401522+Missense_MutationSNPAAGTCGA-B0-5095-01A-01D-1421-08TCGA-B0-5095-11A-01D-1421-08g.chr9:132401522A>Gc.470T>Cc.(469-471)cTc>cCcp.L157P
KIRP9132400146132400146+Nonsense_MutationSNPTTATCGA-B1-A656-01A-11D-A31X-10TCGA-B1-A656-10A-01D-A31X-10g.chr9:132400146T>Ac.1189A>Tc.(1189-1191)Aaa>Taap.K397*
LGG9132401579132401580+Frame_Shift_DelDELCTCT-TCGA-HT-7616-01A-11D-2253-08TCGA-HT-7616-10A-01D-2253-08g.chr9:132401579_132401580delCTc.412_413delAGc.(412-414)agtfsp.S139fs
LGG9132404200132404200+Missense_MutationSNPTTCTCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr9:132404200T>Cc.79A>Gc.(79-81)Atc>Gtcp.I27V
LIHC9132400301132400301+Missense_MutationSNPTTGTCGA-DD-A3A2-01A-11D-A20W-10TCGA-DD-A3A2-11A-11D-A20W-10g.chr9:132400301T>Gc.1034A>Cc.(1033-1035)aAc>aCcp.N345T
LUAD9132400147132400147+SilentSNPGGCTCGA-05-4382-01A-01D-1931-08TCGA-05-4382-10A-01D-1265-08g.chr9:132400147G>Cc.1188C>Gc.(1186-1188)gtC>gtGp.V396V
LUAD9132400455132400455+Missense_MutationSNPCCGTCGA-44-A47A-01A-21D-A24D-08TCGA-44-A47A-10A-01D-A24F-08g.chr9:132400455C>Gc.880G>Cc.(880-882)Gcg>Ccgp.A294P
LUAD9132400638132400638+Frame_Shift_DelDELGG-TCGA-95-A4VK-01A-11D-A25L-08TCGA-95-A4VK-10A-01D-A25L-08g.chr9:132400638delGc.697delCc.(697-699)cagfsp.Q233fs
LUAD9132402830132402830+SilentSNPGGATCGA-67-6215-01A-11D-1753-08TCGA-67-6215-10A-01D-1753-08g.chr9:132402830G>Ac.285C>Tc.(283-285)ctC>ctTp.L95L
LUAD9132404236132404236+Missense_MutationSNPGGTTCGA-73-4670-01A-01D-1265-08TCGA-73-4670-11A-01D-1265-08g.chr9:132404236G>Tc.43C>Ac.(43-45)Cag>Aagp.Q15K
LUSC9132400573132400573+Missense_MutationSNPGGCTCGA-66-2742-01A-01D-0983-08TCGA-66-2742-11A-01D-0983-08g.chr9:132400573G>Cc.762C>Gc.(760-762)agC>agGp.S254R
OV9132400169132400169+Missense_MutationSNPGGATCGA-61-1722-01A-01D-1556-09TCGA-61-1722-11A-01W-0639-09g.chr9:132400169G>Ac.1166C>Tc.(1165-1167)cCg>cTgp.P389L
PRAD9132400168132400168+SilentSNPCCTTCGA-EJ-5525-01A-01D-1576-08TCGA-EJ-5525-10A-01D-1577-08g.chr9:132400168C>Tc.1167G>Ac.(1165-1167)ccG>ccAp.P389P
PRAD9132400656132400656+Missense_MutationSNPCCATCGA-XK-AAIW-01A-11D-A41K-08TCGA-XK-AAIW-10A-01D-A41N-08g.chr9:132400656C>Ac.679G>Tc.(679-681)Ggg>Tggp.G227W
PRAD9132401543132401543+Missense_MutationSNPCCTTCGA-V1-A8WL-01A-11D-A377-08TCGA-V1-A8WL-10A-01D-A37A-08g.chr9:132401543C>Tc.449G>Ac.(448-450)cGc>cAcp.R150H
READ9132400297132400297+SilentSNPGGATCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr9:132400297G>Ac.1038C>Tc.(1036-1038)ttC>ttTp.F346F
SKCM9132401685132401685+Missense_MutationSNPTTCTCGA-EE-A3AB-06A-11D-A196-08TCGA-EE-A3AB-10A-01D-A198-08g.chr9:132401685T>Cc.398A>Gc.(397-399)gAc>gGcp.D133G
SKCM9132402973132402973+Nonsense_MutationSNPGGATCGA-EE-A29L-06A-12D-A196-08TCGA-EE-A29L-10A-01D-A198-08g.chr9:132402973G>Ac.142C>Tc.(142-144)Cga>Tgap.R48*
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-CN9132400070132400070single base substitutionCG3_prime_UTR_variant
BLCA-CN9132400070132400070single base substitutionCGstop_lost*343S1028G>C
BLCA-CN9132400070132400070single base substitutionCGstop_lost*422S1265G>C
BLCA-CN9132400354132400354single base substitutionCG3_prime_UTR_variant
BLCA-CN9132400354132400354single base substitutionCGmissense_variantE248D744G>C
BLCA-CN9132400354132400354single base substitutionCGmissense_variantE327D981G>C
BLCA-CN9132400575132400575single base substitutionTC3_prime_UTR_variant
BLCA-CN9132400575132400575single base substitutionTCmissense_variantS175G523A>G
BLCA-CN9132400575132400575single base substitutionTCmissense_variantS254G760A>G
BLCA-CN9132400668132400668single base substitutionCTmissense_variantE144K430G>A
BLCA-CN9132400668132400668single base substitutionCTmissense_variantE223K667G>A
BLCA-CN9132400668132400668single base substitutionCTsynonymous_variantV186V558G>A
BLCA-CN9132400859132400859single base substitutionCTstop_gainedW161*482G>A
BLCA-CN9132400859132400859single base substitutionCTsynonymous_variantL118L354G>A
BLCA-CN9132400859132400859single base substitutionCTsynonymous_variantL197L591G>A
BOCA-FR9132395288132395288single base substitutionGCdownstream_gene_variant
BRCA-EU9132395064132395064single base substitutionGAdownstream_gene_variant
BRCA-EU9132395280132395282deletion of <=200bpGAG-downstream_gene_variant
BRCA-EU9132396376132396376single base substitutionGTdownstream_gene_variant
BRCA-EU9132398713132398713single base substitutionTCdownstream_gene_variant
BRCA-EU9132399084132399084single base substitutionCAdownstream_gene_variant
BRCA-EU9132399210132399210single base substitutionAT3_prime_UTR_variant
BRCA-EU9132399210132399210single base substitutionATdownstream_gene_variant
BRCA-EU9132400168132400168single base substitutionCT3_prime_UTR_variant
BRCA-EU9132400168132400168single base substitutionCTsynonymous_variantP310P930G>A
BRCA-EU9132400168132400168single base substitutionCTsynonymous_variantP389P1167G>A
BRCA-EU9132402607132402607single base substitutionCGintron_variant
BRCA-EU9132403183132403183single base substitutionGCintron_variant
BRCA-EU9132404511132404511single base substitutionCAupstream_gene_variant
BRCA-EU9132405208132405208single base substitutionCTupstream_gene_variant
BRCA-EU9132405911132405911single base substitutionCTupstream_gene_variant
BRCA-EU9132407674132407674single base substitutionGTupstream_gene_variant
BRCA-EU9132408451132408451single base substitutionGAupstream_gene_variant
BRCA-EU9132408811132408811single base substitutionGTupstream_gene_variant
BRCA-EU9132409100132409100single base substitutionGAupstream_gene_variant
BRCA-EU9132409311132409311single base substitutionACupstream_gene_variant
BRCA-FR9132403183132403183single base substitutionGCintron_variant
BRCA-FR9132408451132408451single base substitutionGAupstream_gene_variant
BRCA-UK9132394987132394987deletion of <=200bpC-downstream_gene_variant
BRCA-US9132395102132395102single base substitutionCTdownstream_gene_variant
BRCA-US9132395277132395277single base substitutionCAdownstream_gene_variant
BRCA-US9132397566132397566single base substitutionCGdownstream_gene_variant
BRCA-US9132397668132397668single base substitutionCTdownstream_gene_variant
BRCA-US9132402823132402823single base substitutionCTintron_variant
BRCA-US9132402823132402823single base substitutionCTmissense_variantE98K292G>A
BRCA-US9132404204132404204single base substitutionCAmissense_variantW7L20G>T
BRCA-US9132404204132404204single base substitutionCAsynonymous_variantL25L75G>T
BTCA-JP9132397728132397733deletion of <=200bpCTTTGC-downstream_gene_variant
BTCA-JP9132401063132401063single base substitutionCGintron_variant
CESC-US9132395004132395004single base substitutionGCdownstream_gene_variant
CESC-US9132395141132395141single base substitutionGCdownstream_gene_variant
CESC-US9132397623132397623single base substitutionCTdownstream_gene_variant
CLLE-ES9132405027132405027single base substitutionTGupstream_gene_variant
COAD-US9132396561132396561single base substitutionGAdownstream_gene_variant
COAD-US9132397680132397680single base substitutionCTdownstream_gene_variant
COAD-US9132397719132397719single base substitutionTGdownstream_gene_variant
COAD-US9132400185132400185single base substitutionGT3_prime_UTR_variant
COAD-US9132400185132400185single base substitutionGTsynonymous_variantR305R913C>A
COAD-US9132400185132400185single base substitutionGTsynonymous_variantR384R1150C>A
COAD-US9132400453132400453single base substitutionCT3_prime_UTR_variant
COAD-US9132400453132400453single base substitutionCTsynonymous_variantA215A645G>A
COAD-US9132400453132400453single base substitutionCTsynonymous_variantA294A882G>A
COCA-CN9132396558132396558single base substitutionGAdownstream_gene_variant
COCA-CN9132400297132400297single base substitutionGA3_prime_UTR_variant
COCA-CN9132400297132400297single base substitutionGAsynonymous_variantF267F801C>T
COCA-CN9132400297132400297single base substitutionGAsynonymous_variantF346F1038C>T
COCA-CN9132400454132400454single base substitutionGA3_prime_UTR_variant
COCA-CN9132400454132400454single base substitutionGAmissense_variantA215V644C>T
COCA-CN9132400454132400454single base substitutionGAmissense_variantA294V881C>T
COCA-CN9132400806132400806single base substitutionGAintron_variant
COCA-CN9132400968132400968single base substitutionAGintron_variant
COCA-CN9132401824132401824single base substitutionGAintron_variant
COCA-CN9132402870132402870single base substitutionGAintron_variant
COCA-CN9132402870132402870single base substitutionGAmissense_variantT82M245C>T
COCA-CN9132404257132404257single base substitutionGT5_prime_UTR_variant
COCA-CN9132404257132404257single base substitutionGTsynonymous_variantR8R22C>A
ESAD-UK9132397159132397159single base substitutionAGdownstream_gene_variant
ESAD-UK9132397564132397564single base substitutionACdownstream_gene_variant
ESAD-UK9132399589132399589single base substitutionCA3_prime_UTR_variant
ESAD-UK9132399589132399589single base substitutionCAdownstream_gene_variant
ESAD-UK9132399911132399911single base substitutionAG3_prime_UTR_variant
ESAD-UK9132399911132399911single base substitutionAGdownstream_gene_variant
ESAD-UK9132402092132402092single base substitutionGAintron_variant
ESAD-UK9132405353132405353single base substitutionCTupstream_gene_variant
ESAD-UK9132407918132407918single base substitutionGAupstream_gene_variant
ESCA-CN9132396655132396655single base substitutionAGdownstream_gene_variant
GBM-US9132394975132394975single base substitutionGAdownstream_gene_variant
KIRC-US9132401522132401522single base substitutionAGintron_variant
KIRC-US9132401522132401522single base substitutionAGmissense_variantL157P470T>C
KIRC-US9132401522132401522single base substitutionAGmissense_variantL78P233T>C
KIRP-US9132400146132400146single base substitutionTA3_prime_UTR_variant
KIRP-US9132400146132400146single base substitutionTAstop_gainedK318*952A>T
KIRP-US9132400146132400146single base substitutionTAstop_gainedK397*1189A>T
LAML-KR9132396655132396655single base substitutionAGdownstream_gene_variant
LGG-US9132401579132401580deletion of <=200bpCT-frameshift_variantS138
LGG-US9132401579132401580deletion of <=200bpCT-frameshift_variantS59
LGG-US9132401579132401580deletion of <=200bpCT-intron_variant
LICA-FR9132396583132396583single base substitutionTCdownstream_gene_variant
LICA-FR9132399210132399210single base substitutionAG3_prime_UTR_variant
LICA-FR9132399210132399210single base substitutionAGdownstream_gene_variant
LIHC-US9132400301132400301single base substitutionTG3_prime_UTR_variant
LIHC-US9132400301132400301single base substitutionTGmissense_variantN266T797A>C
LIHC-US9132400301132400301single base substitutionTGmissense_variantN345T1034A>C
LIHC-US9132400355132400355single base substitutionTC3_prime_UTR_variant
LIHC-US9132400355132400355single base substitutionTCmissense_variantE248G743A>G
LIHC-US9132400355132400355single base substitutionTCmissense_variantE327G980A>G
LINC-JP9132397502132397502single base substitutionATdownstream_gene_variant
LINC-JP9132401863132401863single base substitutionCTintron_variant
LINC-JP9132404471132404471single base substitutionGAupstream_gene_variant
LIRI-JP9132399751132399751single base substitutionCG3_prime_UTR_variant
LIRI-JP9132399751132399751single base substitutionCGdownstream_gene_variant
LIRI-JP9132399870132399870single base substitutionAT3_prime_UTR_variant
LIRI-JP9132399870132399870single base substitutionATdownstream_gene_variant
LIRI-JP9132402549132402549deletion of <=200bpT-intron_variant
LIRI-JP9132407581132407581single base substitutionGAupstream_gene_variant
LUSC-KR9132397252132397252single base substitutionGAdownstream_gene_variant
LUSC-KR9132398565132398565single base substitutionGAdownstream_gene_variant
LUSC-KR9132401100132401100single base substitutionCAintron_variant
LUSC-KR9132404208132404208single base substitutionGCmissense_variantP6A16C>G
LUSC-KR9132404208132404208single base substitutionGCmissense_variantS24C71C>G
LUSC-KR9132407772132407772single base substitutionCTupstream_gene_variant
LUSC-US9132400573132400573single base substitutionGC3_prime_UTR_variant
LUSC-US9132400573132400573single base substitutionGCmissense_variantS175R525C>G
LUSC-US9132400573132400573single base substitutionGCmissense_variantS254R762C>G
MALY-DE9132399502132399502single base substitutionGT3_prime_UTR_variant
MALY-DE9132399502132399502single base substitutionGTdownstream_gene_variant
MALY-DE9132401978132401978single base substitutionGAintron_variant
MELA-AU9132395165132395165single base substitutionCTdownstream_gene_variant
MELA-AU9132397675132397675single base substitutionCTdownstream_gene_variant
MELA-AU9132400386132400386single base substitutionCT3_prime_UTR_variant
MELA-AU9132400386132400386single base substitutionCTmissense_variantE238K712G>A
MELA-AU9132400386132400386single base substitutionCTmissense_variantE317K949G>A
MELA-AU9132401685132401685single base substitutionTCmissense_variantD133G398A>G
MELA-AU9132401685132401685single base substitutionTCmissense_variantD54G161A>G
MELA-AU9132402495132402495single base substitutionTCintron_variant
MELA-AU9132402537132402537single base substitutionTCintron_variant
MELA-AU9132402805132402806multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU9132402973132402973single base substitutionGAintron_variant
MELA-AU9132402973132402973single base substitutionGAstop_gainedR48*142C>T
MELA-AU9132404459132404459single base substitutionCTupstream_gene_variant
MELA-AU9132404796132404796single base substitutionCTupstream_gene_variant
MELA-AU9132404797132404797single base substitutionCTupstream_gene_variant
MELA-AU9132404951132404952multiple base substitution (>=2bp and <=200bp)GGTCupstream_gene_variant
MELA-AU9132405292132405292single base substitutionGAupstream_gene_variant
MELA-AU9132405600132405600single base substitutionCTupstream_gene_variant
MELA-AU9132405877132405877single base substitutionCTupstream_gene_variant
MELA-AU9132405899132405899single base substitutionGAupstream_gene_variant
MELA-AU9132406047132406047single base substitutionGAupstream_gene_variant
MELA-AU9132406414132406414single base substitutionTGupstream_gene_variant
MELA-AU9132406499132406499single base substitutionCTupstream_gene_variant
MELA-AU9132406613132406613single base substitutionGAupstream_gene_variant
MELA-AU9132407541132407541single base substitutionCTupstream_gene_variant
MELA-AU9132407621132407621single base substitutionCTupstream_gene_variant
MELA-AU9132407819132407819single base substitutionTAupstream_gene_variant
MELA-AU9132408078132408078single base substitutionCTupstream_gene_variant
MELA-AU9132408372132408372single base substitutionGAupstream_gene_variant
MELA-AU9132408825132408825single base substitutionCTupstream_gene_variant
MELA-AU9132408875132408875single base substitutionGAupstream_gene_variant
MELA-AU9132408967132408967single base substitutionCTupstream_gene_variant
MELA-AU9132409040132409040single base substitutionCTupstream_gene_variant
MELA-AU9132409059132409059single base substitutionGAupstream_gene_variant
MELA-AU9132409224132409224single base substitutionGAupstream_gene_variant
MELA-AU9132409430132409430single base substitutionTCupstream_gene_variant
ORCA-IN9132396547132396547single base substitutionCTdownstream_gene_variant
ORCA-IN9132400570132400570single base substitutionCA3_prime_UTR_variant
ORCA-IN9132400570132400570single base substitutionCAmissense_variantE176D528G>T
ORCA-IN9132400570132400570single base substitutionCAmissense_variantE255D765G>T
ORCA-IN9132401762132401762single base substitutionCAmissense_variantL107F321G>T
ORCA-IN9132401762132401762single base substitutionCAmissense_variantL28F84G>T
ORCA-IN9132403000132403000single base substitutionGTintron_variant
ORCA-IN9132403000132403000single base substitutionGTmissense_variantP39T115C>A
OV-AU9132396550132396550single base substitutionACdownstream_gene_variant
OV-AU9132398863132398863single base substitutionCGdownstream_gene_variant
OV-AU9132399265132399265single base substitutionCG3_prime_UTR_variant
OV-AU9132399265132399265single base substitutionCGdownstream_gene_variant
OV-AU9132399867132399867single base substitutionGT3_prime_UTR_variant
OV-AU9132399867132399867single base substitutionGTdownstream_gene_variant
OV-AU9132408480132408480single base substitutionTAupstream_gene_variant
PACA-AU9132394470132394470single base substitutionGAdownstream_gene_variant
PACA-AU9132403877132403877deletion of <=200bpG-intron_variant
PACA-AU9132407718132407718single base substitutionCTupstream_gene_variant
PACA-CA9132396083132396083single base substitutionAGdownstream_gene_variant
PACA-CA9132401583132401583single base substitutionCTintron_variant
PACA-CA9132401583132401583single base substitutionCTmissense_variantE137K409G>A
PACA-CA9132401583132401583single base substitutionCTmissense_variantE58K172G>A
PACA-CA9132406348132406348single base substitutionGAupstream_gene_variant
PACA-CA9132406372132406372single base substitutionCGupstream_gene_variant
PACA-CA9132407099132407099single base substitutionCTupstream_gene_variant
PACA-CA9132408910132408910single base substitutionCTupstream_gene_variant
PAEN-AU9132401756132401756single base substitutionGCmissense_variantI109M327C>G
PAEN-AU9132401756132401756single base substitutionGCmissense_variantI30M90C>G
PBCA-DE9132405394132405394single base substitutionTAupstream_gene_variant
PBCA-DE9132409266132409266single base substitutionCAupstream_gene_variant
PRAD-UK9132397856132397856single base substitutionTCdownstream_gene_variant
PRAD-US9132397600132397600single base substitutionGTdownstream_gene_variant
PRAD-US9132400168132400168single base substitutionCT3_prime_UTR_variant
PRAD-US9132400168132400168single base substitutionCTsynonymous_variantP310P930G>A
PRAD-US9132400168132400168single base substitutionCTsynonymous_variantP389P1167G>A
READ-US9132401544132401544single base substitutionGAintron_variant
READ-US9132401544132401544single base substitutionGAmissense_variantR150C448C>T
READ-US9132401544132401544single base substitutionGAmissense_variantR71C211C>T
RECA-EU9132399506132399506single base substitutionCT3_prime_UTR_variant
RECA-EU9132399506132399506single base substitutionCTdownstream_gene_variant
RECA-EU9132402953132402953single base substitutionCAintron_variant
RECA-EU9132402953132402953single base substitutionCAmissense_variantE54D162G>T
SKCA-BR9132396720132396720single base substitutionACdownstream_gene_variant
SKCA-BR9132404459132404459single base substitutionCTupstream_gene_variant
SKCA-BR9132404642132404642single base substitutionCTupstream_gene_variant
SKCA-BR9132406903132406903single base substitutionCGupstream_gene_variant
SKCA-BR9132406946132406946single base substitutionAGupstream_gene_variant
SKCM-US9132395060132395060single base substitutionGAdownstream_gene_variant
SKCM-US9132396539132396539single base substitutionCTdownstream_gene_variant
SKCM-US9132397675132397675single base substitutionCTdownstream_gene_variant
SKCM-US9132401685132401685single base substitutionTCmissense_variantD133G398A>G
SKCM-US9132401685132401685single base substitutionTCmissense_variantD54G161A>G
SKCM-US9132402973132402973single base substitutionGAintron_variant
SKCM-US9132402973132402973single base substitutionGAstop_gainedR48*142C>T
STAD-US9132396542132396542single base substitutionGAdownstream_gene_variant
STAD-US9132396585132396585single base substitutionGTdownstream_gene_variant
STAD-US9132397491132397491single base substitutionCGdownstream_gene_variant
STAD-US9132397660132397660single base substitutionGAdownstream_gene_variant
STAD-US9132397705132397705single base substitutionGAdownstream_gene_variant
STAD-US9132400101132400101single base substitutionCT3_prime_UTR_variant
STAD-US9132400101132400101single base substitutionCTmissense_variantE333K997G>A
STAD-US9132400101132400101single base substitutionCTmissense_variantE412K1234G>A
STAD-US9132400113132400113single base substitutionAG3_prime_UTR_variant
STAD-US9132400113132400113single base substitutionAGmissense_variantY329H985T>C
STAD-US9132400113132400113single base substitutionAGmissense_variantY408H1222T>C
STAD-US9132400192132400193deletion of <=200bpCA-3_prime_UTR_variant
STAD-US9132400192132400193deletion of <=200bpCA-frameshift_variantV302
STAD-US9132400192132400193deletion of <=200bpCA-frameshift_variantV381
STAD-US9132400635132400635single base substitutionTCmissense_variantM155V463A>G
STAD-US9132400635132400635single base substitutionTCmissense_variantM234V700A>G
STAD-US9132400635132400635single base substitutionTCsynonymous_variantR197R591A>G
STAD-US9132400887132400887single base substitutionTCmissense_variantH109R326A>G
STAD-US9132400887132400887single base substitutionTCmissense_variantH188R563A>G
STAD-US9132400887132400887single base substitutionTCmissense_variantT152A454A>G
STAD-US9132401727132401727single base substitutionAGmissense_variantV119A356T>C
STAD-US9132401727132401727single base substitutionAGmissense_variantV40A119T>C
THCA-SA9132395051132395051single base substitutionCTdownstream_gene_variant
THCA-US9132397704132397704single base substitutionCGdownstream_gene_variant
UCEC-US9132394988132394988single base substitutionGAdownstream_gene_variant
UCEC-US9132395013132395013single base substitutionCTdownstream_gene_variant
UCEC-US9132396444132396444single base substitutionAGdownstream_gene_variant
UCEC-US9132397544132397544single base substitutionGAdownstream_gene_variant
UCEC-US9132397561132397561single base substitutionGAdownstream_gene_variant
UCEC-US9132397697132397697single base substitutionATdownstream_gene_variant
UCEC-US9132400170132400170single base substitutionGA3_prime_UTR_variant
UCEC-US9132400170132400170single base substitutionGAmissense_variantP310S928C>T
UCEC-US9132400170132400170single base substitutionGAmissense_variantP389S1165C>T
UCEC-US9132400261132400261single base substitutionGA3_prime_UTR_variant
UCEC-US9132400261132400261single base substitutionGAsynonymous_variantI279I837C>T
UCEC-US9132400261132400261single base substitutionGAsynonymous_variantI358I1074C>T
UCEC-US9132400297132400297single base substitutionGA3_prime_UTR_variant
UCEC-US9132400297132400297single base substitutionGAsynonymous_variantF267F801C>T
UCEC-US9132400297132400297single base substitutionGAsynonymous_variantF346F1038C>T
UCEC-US9132400352132400352single base substitutionGA3_prime_UTR_variant
UCEC-US9132400352132400352single base substitutionGAmissense_variantT249I746C>T
UCEC-US9132400352132400352single base substitutionGAmissense_variantT328I983C>T
UCEC-US9132400454132400454single base substitutionGA3_prime_UTR_variant
UCEC-US9132400454132400454single base substitutionGAmissense_variantA215V644C>T
UCEC-US9132400454132400454single base substitutionGAmissense_variantA294V881C>T
UCEC-US9132400904132400904single base substitutionGAmissense_variantA146V437C>T
UCEC-US9132400904132400904single base substitutionGAsynonymous_variantS103S309C>T
UCEC-US9132400904132400904single base substitutionGAsynonymous_variantS182S546C>T
UCEC-US9132401493132401493single base substitutionCTintron_variant
UCEC-US9132401493132401493single base substitutionCTmissense_variantA167T499G>A
UCEC-US9132401493132401493single base substitutionCTmissense_variantA88T262G>A
UCEC-US9132401494132401494single base substitutionGAintron_variant
UCEC-US9132401494132401494single base substitutionGAsynonymous_variantA166A498C>T
UCEC-US9132401494132401494single base substitutionGAsynonymous_variantA87A261C>T
UCEC-US9132401691132401691single base substitutionCTmissense_variantR131Q392G>A
UCEC-US9132401691132401691single base substitutionCTmissense_variantR52Q155G>A
UCEC-US9132401756132401756single base substitutionGAsynonymous_variantI109I327C>T
UCEC-US9132401756132401756single base substitutionGAsynonymous_variantI30I90C>T
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
NOKSICOSM3328452c.580C>Tp.R194CSubstitution - Missense9:129638591-129638591-
TCGA-BR-4191-01COSM3904717c.563A>Gp.H188RSubstitution - Missense9:129638608-129638608-
TCGA-DD-A3A2-01COSM4928903c.1034A>Cp.N345TSubstitution - Missense9:129638022-129638022-
J87_TCOSM3952380c.71C>Gp.S24CSubstitution - Missense9:129641929-129641929-
DLD1COSM4626355c.730C>Tp.R244WSubstitution - Missense9:129638326-129638326-
B81-2COSM1755990c.760A>Gp.S254GSubstitution - Missense9:129638296-129638296-
VACO4SCOSM4657308c.550G>Ap.G184RSubstitution - Missense9:129638621-129638621-
T2979COSM1183743c.971G>Ap.R324HSubstitution - Missense9:129638085-129638085-
SNU-C4COSM4654434c.724G>Ap.V242ISubstitution - Missense9:129638332-129638332-
ESO-1060COSM1245540c.1099C>Tp.Q367*Substitution - Nonsense9:129637957-129637957-
TCGA-B1-A656-01COSM4413929c.1189A>Tp.K397*Substitution - Nonsense9:129637867-129637867-
TCGA-HU-A4H4-01COSM3904718c.356T>Cp.V119ASubstitution - Missense9:129639448-129639448-
C99COSM4620540c.931C>Tp.P311SSubstitution - Missense9:129638125-129638125-
587338COSM1183744c.833G>Ap.R278HSubstitution - Missense9:129638223-129638223-
TCGA-D1-A17Q-01COSM1105862c.1074C>Tp.I358ISubstitution - coding silent9:129637982-129637982-
TCGA-BR-6452-01COSM3904715c.1222T>Cp.Y408HSubstitution - Missense9:129637834-129637834-
TCGA-CG-5728-01COSM3904716c.700A>Gp.M234VSubstitution - Missense9:129638356-129638356-
PCSI_0111_Pa_PCOSM216835c.409G>Ap.E137KSubstitution - Missense9:129639304-129639304-
Gp2DCOSM4628834c.1221G>Ap.W407*Substitution - Nonsense9:129637835-129637835-
TCGA-D1-A174-01COSM1105863c.983C>Tp.T328ISubstitution - Missense9:129638073-129638073-
Pat_26_BCOSM5875661c.1105G>Ap.E369KSubstitution - Missense9:129637951-129637951-
66COSM1105866c.499G>Ap.A167TSubstitution - Missense9:129639214-129639214-
TCGA-EJ-5525-01COSM1132573c.1167G>Ap.P389PSubstitution - coding silent9:129637889-129637889-
TCGA-G4-6586-01COSM1460416c.1150C>Ap.R384RSubstitution - coding silent9:129637906-129637906-
OSCC-GB_00440111COSM3716138c.321G>Tp.L107FSubstitution - Missense9:129639483-129639483-
587224COSM1183743c.971G>Ap.R324HSubstitution - Missense9:129638085-129638085-
TCGA-D1-A177-01COSM1105868c.392G>Ap.R131QSubstitution - Missense9:129639412-129639412-
TCGA-BH-A18P-01COSM455459c.292G>Ap.E98KSubstitution - Missense9:129640544-129640544-
C10COSM1105865c.546C>Tp.S182SSubstitution - coding silent9:129638625-129638625-
B86-TumorCOSM1755991c.667G>Ap.E223KSubstitution - Missense9:129638389-129638389-
TCGA-EE-A29L-06COSM3654826c.142C>Tp.R48*Substitution - Nonsense9:129640694-129640694-
C0014TCOSM4138855c.162G>Tp.E54DSubstitution - Missense9:129640674-129640674-
TCGA-AP-A0LT-01COSM1105861c.1165C>Tp.P389SSubstitution - Missense9:129637891-129637891-
TCGA-BS-A0UF-01COSM1105866c.499G>Ap.A167TSubstitution - Missense9:129639214-129639214-
I2L-P8-Tumor-BiopsyCOSM1105865c.546C>Tp.S182SSubstitution - coding silent9:129638625-129638625-
sysucc-968TCOSM1105864c.881C>Tp.A294VSubstitution - Missense9:129638175-129638175-
TCGA-B5-A11E-01COSM1105865c.546C>Tp.S182SSubstitution - coding silent9:129638625-129638625-
TCGA-61-1722-01COSM1330698c.1166C>Tp.P389LSubstitution - Missense9:129637890-129637890-
TCGA-AX-A0J0-01COSM1105864c.881C>Tp.A294VSubstitution - Missense9:129638175-129638175-
TCGA-EI-6917-01COSM3432908c.448C>Tp.R150CSubstitution - Missense9:129639265-129639265-
B109COSM1755992c.591G>Ap.L197LSubstitution - coding silent9:129638580-129638580-
587246COSM1183745c.804G>Tp.K268NSubstitution - Missense9:129638252-129638252-
QC2-42-T2COSM5656230c.763G>Ap.E255KSubstitution - Missense9:129638293-129638293-
TCGA-66-2742-01COSM752577c.762C>Gp.S254RSubstitution - Missense9:129638294-129638294-
TCGA-DD-A113-01COSM4925164c.980A>Gp.E327GSubstitution - Missense9:129638076-129638076-
sysucc-1370TCOSM5472674c.245C>Tp.T82MSubstitution - Missense9:129640591-129640591-
PCSI_0111_Pa_P_526COSM216835c.409G>Ap.E137KSubstitution - Missense9:129639304-129639304-
WT041COSM5352071c.855C>Tp.A285ASubstitution - coding silent9:129638201-129638201-
TCGA-AP-A056-01COSM237012c.1038C>Tp.F346FSubstitution - coding silent9:129638018-129638018-
YUPATCOSM1701816c.178G>Ap.A60TSubstitution - Missense9:129640658-129640658-
PD24214aCOSM1132573c.1167G>Ap.P389PSubstitution - coding silent9:129637889-129637889-
OSCC-GB_00770111COSM4883941c.115C>Ap.P39TSubstitution - Missense9:129640721-129640721-
WA16COSM237012c.1038C>Tp.F346FSubstitution - coding silent9:129638018-129638018-
TCGA-AG-A002-01COSM237012c.1038C>Tp.F346FSubstitution - coding silent9:129638018-129638018-
I2L-P8-Tumor-OrganoidCOSM1105865c.546C>Tp.S182SSubstitution - coding silent9:129638625-129638625-
HCT15COSM3328448c.829C>Tp.L277LSubstitution - coding silent9:129638227-129638227-
sysucc-311TCOSM237012c.1038C>Tp.F346FSubstitution - coding silent9:129638018-129638018-
B86-TumorCOSM4007070c.981G>Cp.E327DSubstitution - Missense9:129638075-129638075-
OSCC-GB_01060111COSM4882924c.765G>Tp.E255DSubstitution - Missense9:129638291-129638291-
pfg043TCOSM4761476c.1217A>Cp.K406TSubstitution - Missense9:129637839-129637839-
TCGA-BG-A0MI-01COSM1105867c.498C>Tp.A166ASubstitution - coding silent9:129639215-129639215-
XHDG38COSM4769807c.972C>Ap.R324RSubstitution - coding silent9:129638084-129638084-
TCGA-EE-A3AB-06COSM3926280c.398A>Gp.D133GSubstitution - Missense9:129639406-129639406-
B81-2-TumorCOSM1755990c.760A>Gp.S254GSubstitution - Missense9:129638296-129638296-
T3610COSM4663656c.507G>Ap.K169KSubstitution - coding silent9:129639206-129639206-
44TCOSM3716138c.321G>Tp.L107FSubstitution - Missense9:129639483-129639483-
8049945COSM4407435c.327C>Gp.I109MSubstitution - Missense9:129639477-129639477-
TCGA-HU-A4GT-01COSM3904714c.1234G>Ap.E412KSubstitution - Missense9:129637822-129637822-
B86COSM1755991c.667G>Ap.E223KSubstitution - Missense9:129638389-129638389-
B109-TumorCOSM1755992c.591G>Ap.L197LSubstitution - coding silent9:129638580-129638580-
587238COSM1183742c.959C>Ap.A320ESubstitution - Missense9:129638097-129638097-
TCGA-D1-A17Q-01COSM1105869c.327C>Tp.I109ISubstitution - coding silent9:129639477-129639477-
TCGA-D5-6540-01COSM1460417c.882G>Ap.A294ASubstitution - coding silent9:129638174-129638174-
B86-TumorCOSM4007069c.1265G>Cp.*422SNonstop extension9:129637791-129637791-
TCGA-B0-5095-01COSM487115c.470T>Cp.L157PSubstitution - Missense9:129639243-129639243-
Pat_26_ACOSM5875661c.1105G>Ap.E369KSubstitution - Missense9:129637951-129637951-
TCGA-AO-A0J2-01COSM455460c.75G>Tp.L25LSubstitution - coding silent9:129641925-129641925-
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.1250372409899|CGAP|BC065913|A/G|non-coding||2207|Validated;
1533151|dbSNP|BC065913|G/T|coding|Ala106Ser|388|Candidate
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
AGMissensep.L157Pc.470T>C9132401522RCCC
AGMissensep.V129Ac.386T>C9132401697CM
CASynonymousp.L25Lc.75G>T9132404204BRCA
CT3-UTRSNV.c.1263+36G>A9132400036CM
CT-Frameshiftp.S138*fs*1c.412_413delAG9132401579LGG
CTMissensep.D128Nc.382G>A9132401701BRCA
CTMissensep.E137Kc.409G>A9132401583HNSC
CTMissensep.E137Kc.409G>A9132401583PAAD
CTMissensep.R131Qc.392G>A9132401691UCEC
CTSynonymousp.P389Pc.1167G>A9132400168PRAD
GAMissensep.P389Sc.1165C>T9132400170UCEC
GAMissensep.T328Ic.983C>T9132400352UCEC
GANonsensep.Q367*c.1099C>T9132400236ESCA
GANonsensep.R48*c.142C>T9132402973CM
GASynonymousp.A166Ac.498C>T9132401494UCEC
GASynonymousp.L95Lc.285C>T9132402830LUAD
GCMissensep.S254Rc.762C>G9132400573LUSC
GCSynonymousp.V396Vc.1188C>G9132400147LUAD
GTMissensep.Q15Kc.43C>A9132404236LUAD
TCMissensep.D133Gc.398A>G9132401685CM
TCMissensep.H188Rc.563A>G9132400887STAD
TCMissensep.M234Vc.700A>G9132400635STAD