WDR83
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA191278069012780690+Missense_MutationSNPGGTTCGA-DK-A6B6-01A-11D-A30E-08TCGA-DK-A6B6-10A-01D-A30H-08g.chr19:12780690G>Tc.86G>Tc.(85-87)cGa>cTap.R29L
BLCA191278082812780828+SilentSNPGGATCGA-E7-A3X6-01A-12D-A22Z-08TCGA-E7-A3X6-10A-01D-A22Z-08g.chr19:12780828G>Ac.141G>Ac.(139-141)aaG>aaAp.K47K
BLCA191278089212780892+Missense_MutationSNPGGCTCGA-FD-A62P-01A-32D-A30E-08TCGA-FD-A62P-10A-01D-A30H-08g.chr19:12780892G>Cc.205G>Cc.(205-207)Gag>Cagp.E69Q
BLCA191278089212780892+Missense_MutationSNPGGCTCGA-FD-A6TG-01A-11D-A32B-08TCGA-FD-A6TG-10A-01D-A329-08g.chr19:12780892G>Cc.205G>Cc.(205-207)Gag>Cagp.E69Q
BLCA191278389412783894+Missense_MutationSNPGGATCGA-DK-A3X2-01A-11D-A22Z-08TCGA-DK-A3X2-10A-01D-A22Z-08g.chr19:12783894G>Ac.647G>Ac.(646-648)cGg>cAgp.R216Q
BLCA191278639012786390+SilentSNPCCTTCGA-XF-AAML-01A-11D-A42E-08TCGA-XF-AAML-10A-01D-A42H-08g.chr19:12786390C>Tc.852C>Tc.(850-852)gcC>gcTp.A284A
BLCA191278644112786441+Missense_MutationSNPGGTTCGA-G2-A3IE-01A-11D-A20D-08TCGA-G2-A3IE-10A-01D-A20D-08g.chr19:12786441G>Tc.903G>Tc.(901-903)caG>caTp.Q301H
BRCA191278087812780878+De_novo_Start_OutOfFrameSNPGGTTCGA-A8-A0A1-01A-11W-A019-09TCGA-A8-A0A1-10A-01W-A021-09g.chr19:12780878G>T
BRCA191278392612783926+Missense_MutationSNPGGTTCGA-A8-A09I-01A-22W-A050-09TCGA-A8-A09I-10A-01W-A055-09g.chr19:12783926G>Tc.679G>Tc.(679-681)Ggc>Tgcp.G227C
CESC191278158012781580+Missense_MutationSNPGGATCGA-C5-A1BK-01B-11D-A13W-08TCGA-C5-A1BK-10A-01D-A13W-08g.chr19:12781580G>Ac.451G>Ac.(451-453)Gag>Aagp.E151K
COAD191278155912781559+Missense_MutationSNPGGATCGA-CM-5860-01A-01D-1650-10TCGA-CM-5860-10A-01D-1650-10g.chr19:12781559G>Ac.430G>Ac.(430-432)Gag>Aagp.E144K
COAD191278156012781560+Missense_MutationSNPAAGTCGA-CK-5914-01A-11D-1650-10TCGA-CK-5914-10A-01D-1650-10g.chr19:12781560A>Gc.431A>Gc.(430-432)gAg>gGgp.E144G
COAD191278159412781594+SilentSNPCCTTCGA-AD-6889-01A-11D-1924-10TCGA-AD-6889-10A-01D-1924-10g.chr19:12781594C>Tc.465C>Tc.(463-465)ggC>ggTp.G155G
COAD191278406812784068+Missense_MutationSNPCCTTCGA-AA-A01Q-01A-01W-A005-10TCGA-AA-A01Q-10A-01W-A005-10g.chr19:12784068C>Tc.736C>Tc.(736-738)Cgt>Tgtp.R246C
COADREAD191278155912781559+Missense_MutationSNPGGATCGA-CM-5860-01A-01D-1650-10TCGA-CM-5860-10A-01D-1650-10g.chr19:12781559G>Ac.430G>Ac.(430-432)Gag>Aagp.E144K
COADREAD191278156012781560+Missense_MutationSNPAAGTCGA-CK-5914-01A-11D-1650-10TCGA-CK-5914-10A-01D-1650-10g.chr19:12781560A>Gc.431A>Gc.(430-432)gAg>gGgp.E144G
COADREAD191278159412781594+SilentSNPCCTTCGA-AD-6889-01A-11D-1924-10TCGA-AD-6889-10A-01D-1924-10g.chr19:12781594C>Tc.465C>Tc.(463-465)ggC>ggTp.G155G
COADREAD191278406812784068+Missense_MutationSNPCCTTCGA-AA-A01Q-01A-01W-A005-10TCGA-AA-A01Q-10A-01W-A005-10g.chr19:12784068C>Tc.736C>Tc.(736-738)Cgt>Tgtp.R246C
ESCA191278063812780638+Missense_MutationSNPGGATCGA-IG-A3QL-01A-11D-A247-09TCGA-IG-A3QL-10A-01D-A247-09g.chr19:12780638G>Ac.34G>Ac.(34-36)Gag>Aagp.E12K
HNSC191278085312780853+Missense_MutationSNPCCTTCGA-CV-A45Y-01A-11D-A25D-08TCGA-CV-A45Y-10A-01D-A25E-08g.chr19:12780853C>Tc.166C>Tc.(166-168)Cgg>Tggp.R56W
HNSC191278138012781380+Missense_MutationSNPGGTTCGA-CV-A6JM-01A-11D-A31L-08TCGA-CV-A6JM-10A-01D-A31J-08g.chr19:12781380G>Tc.334G>Tc.(334-336)Gtg>Ttgp.V112L
HNSC191278157912781579+Missense_MutationSNPTTATCGA-KU-A6H8-01A-21D-A34J-08TCGA-KU-A6H8-10A-01D-A34M-08g.chr19:12781579T>Ac.450T>Ac.(448-450)gaT>gaAp.D150E
LUAD191278099712780997+SilentSNPCCTTCGA-62-8394-01A-11D-2323-08TCGA-62-8394-10A-01D-2323-08g.chr19:12780997C>Tc.228C>Tc.(226-228)tcC>tcTp.S76S
LUAD191278372912783734+Splice_SiteDELGTGAGTGTGAGT-TCGA-MP-A4TF-01A-11D-A25L-08TCGA-MP-A4TF-10A-01D-A25L-08g.chr19:12783729_12783734delGTGAGTc.e8+1
PAAD191278406812784068+Missense_MutationSNPCCTTCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr19:12784068C>Tc.736C>Tc.(736-738)Cgt>Tgtp.R246C
PAAD191278638412786384+SilentSNPGGATCGA-HZ-7918-01A-11D-2154-08TCGA-HZ-7918-10A-01D-2154-08g.chr19:12786384G>Ac.846G>Ac.(844-846)tcG>tcAp.S282S
PRAD191278068612780686+Missense_MutationSNPGGATCGA-EJ-7793-01A-31D-2260-08TCGA-EJ-7793-10A-01D-2260-08g.chr19:12780686G>Ac.82G>Ac.(82-84)Gtg>Atgp.V28M
PRAD191278086012780860+Missense_MutationSNPCCATCGA-HC-7742-01A-11D-2114-08TCGA-HC-7742-10A-01D-2115-08g.chr19:12780860C>Ac.173C>Ac.(172-174)aCg>aAgp.T58K
SARC191278409812784098+Missense_MutationSNPGGATCGA-3B-A9HS-01A-11D-A38Z-09TCGA-3B-A9HS-10A-01D-A38Z-09g.chr19:12784098G>Ac.766G>Ac.(766-768)Gac>Aacp.D256N
SKCM191278085312780853+Missense_MutationSNPCCTTCGA-EE-A2GP-06A-11D-A197-08TCGA-EE-A2GP-10A-01D-A199-08g.chr19:12780853C>Tc.166C>Tc.(166-168)Cgg>Tggp.R56W
SKCM191278409912784099+Missense_MutationSNPAAGTCGA-EE-A3AB-06A-11D-A196-08TCGA-EE-A3AB-10A-01D-A198-08g.chr19:12784099A>Gc.767A>Gc.(766-768)gAc>gGcp.D256G
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
ALL-US191278633612786336single base substitutionGTdownstream_gene_variant
ALL-US191278633612786336single base substitutionGTsplice_acceptor_variant
BLCA-US191277934512779345single base substitutionCT5_prime_UTR_variant
BLCA-US191277934512779345single base substitutionCTexon_variant
BLCA-US191277934512779345single base substitutionCTupstream_gene_variant
BLCA-US191277934812779348single base substitutionCT5_prime_UTR_variant
BLCA-US191277934812779348single base substitutionCTexon_variant
BLCA-US191277934812779348single base substitutionCTupstream_gene_variant
BLCA-US191277942912779429single base substitutionCT5_prime_UTR_variant
BLCA-US191277942912779429single base substitutionCTexon_variant
BLCA-US191277942912779429single base substitutionCTupstream_gene_variant
BLCA-US191278045112780451single base substitutionGCexon_variant
BLCA-US191278045112780451single base substitutionGCintron_variant
BLCA-US191278045112780451single base substitutionGCupstream_gene_variant
BLCA-US191278082812780828single base substitutionGAexon_variant
BLCA-US191278082812780828single base substitutionGAsynonymous_variantK47K141G>A
BLCA-US191278082812780828single base substitutionGAupstream_gene_variant
BLCA-US191278644112786441single base substitutionGT3_prime_UTR_variant
BLCA-US191278644112786441single base substitutionGTdownstream_gene_variant
BLCA-US191278644112786441single base substitutionGTexon_variant
BLCA-US191278644112786441single base substitutionGTmissense_variantQ301H903G>T
BLCA-US191279067812790678single base substitutionGAdownstream_gene_variant
BOCA-FR191278021212780212single base substitutionGAintron_variant
BOCA-FR191278021212780212single base substitutionGAupstream_gene_variant
BRCA-EU191277410012774100single base substitutionCTupstream_gene_variant
BRCA-EU191277421412774214single base substitutionGCupstream_gene_variant
BRCA-EU191277506012775060single base substitutionTGupstream_gene_variant
BRCA-EU191277546112775461single base substitutionCTupstream_gene_variant
BRCA-EU191277593512775935single base substitutionTCupstream_gene_variant
BRCA-EU191277672012776720single base substitutionGAupstream_gene_variant
BRCA-EU191277723512777235single base substitutionCGupstream_gene_variant
BRCA-EU191277748912777489single base substitutionCGupstream_gene_variant
BRCA-EU191277750412777504single base substitutionGAupstream_gene_variant
BRCA-EU191278039812780398single base substitutionCGexon_variant
BRCA-EU191278039812780398single base substitutionCGintron_variant
BRCA-EU191278039812780398single base substitutionCGupstream_gene_variant
BRCA-EU191278155212781552single base substitutionGA3_prime_UTR_variant
BRCA-EU191278155212781552single base substitutionGAexon_variant
BRCA-EU191278155212781552single base substitutionGAintron_variant
BRCA-EU191278155212781552single base substitutionGAsynonymous_variantR141R423G>A
BRCA-EU191278155212781552single base substitutionGAsynonymous_variantR43R129G>A
BRCA-EU191278155212781552single base substitutionGAupstream_gene_variant
BRCA-EU191278170212781702single base substitutionGCdownstream_gene_variant
BRCA-EU191278170212781702single base substitutionGCintron_variant
BRCA-EU191278170212781702single base substitutionGCupstream_gene_variant
BRCA-EU191278253112782531single base substitutionGCdownstream_gene_variant
BRCA-EU191278253112782531single base substitutionGCintron_variant
BRCA-EU191278253112782531single base substitutionGCupstream_gene_variant
BRCA-EU191278310112783101single base substitutionGAdownstream_gene_variant
BRCA-EU191278310112783101single base substitutionGAexon_variant
BRCA-EU191278310112783101single base substitutionGAintron_variant
BRCA-EU191278373712783737single base substitutionGAdownstream_gene_variant
BRCA-EU191278373712783737single base substitutionGAintron_variant
BRCA-EU191278756912787569single base substitutionATdownstream_gene_variant
BRCA-EU191278845212788452single base substitutionCTdownstream_gene_variant
BRCA-EU191278970412789704single base substitutionGTdownstream_gene_variant
BRCA-EU191279033912790339single base substitutionACdownstream_gene_variant
BRCA-EU191279160012791600single base substitutionGCdownstream_gene_variant
BRCA-FR191277824912778249single base substitutionGCintron_variant
BRCA-FR191277824912778249single base substitutionGCupstream_gene_variant
BRCA-FR191279033912790339single base substitutionACdownstream_gene_variant
BRCA-UK191277394712773947single base substitutionGAupstream_gene_variant
BRCA-UK191277506012775060single base substitutionTGupstream_gene_variant
BRCA-UK191278141312781413single base substitutionGC3_prime_UTR_variant
BRCA-UK191278141312781413single base substitutionGCexon_variant
BRCA-UK191278141312781413single base substitutionGCintron_variant
BRCA-UK191278141312781413single base substitutionGCmissense_variantV123L367G>C
BRCA-UK191278141312781413single base substitutionGCmissense_variantV25L73G>C
BRCA-UK191278141312781413single base substitutionGCupstream_gene_variant
BRCA-US191277920412779204single base substitutionTGintron_variant
BRCA-US191277920412779204single base substitutionTGupstream_gene_variant
BRCA-US191277922412779224single base substitutionGAintron_variant
BRCA-US191277922412779224single base substitutionGAupstream_gene_variant
BRCA-US191278087812780878single base substitutionGTexon_variant
BRCA-US191278087812780878single base substitutionGTmissense_variantS64I191G>T
BRCA-US191278087812780878single base substitutionGTupstream_gene_variant
BRCA-US191278392612783926single base substitutionGT3_prime_UTR_variant
BRCA-US191278392612783926single base substitutionGTdownstream_gene_variant
BRCA-US191278392612783926single base substitutionGTexon_variant
BRCA-US191278392612783926single base substitutionGTmissense_variantG158C472G>T
BRCA-US191278392612783926single base substitutionGTmissense_variantG227C679G>T
BRCA-US191278817512788175single base substitutionGAdownstream_gene_variant
BRCA-US191278819212788192single base substitutionTGdownstream_gene_variant
BRCA-US191279109312791093single base substitutionGAdownstream_gene_variant
BTCA-JP191277425212774252single base substitutionGAupstream_gene_variant
BTCA-JP191277994612779946single base substitutionACintron_variant
BTCA-JP191277994612779946single base substitutionACupstream_gene_variant
BTCA-JP191278414112784141single base substitutionCGdownstream_gene_variant
BTCA-JP191278414112784141single base substitutionCGintron_variant
BTCA-JP191279032812790328single base substitutionGAdownstream_gene_variant
BTCA-JP191279109112791091single base substitutionCTdownstream_gene_variant
CESC-US191278000712780007single base substitutionCTintron_variant
CESC-US191278000712780007single base substitutionCTupstream_gene_variant
CESC-US191278096412780964single base substitutionGAintron_variant
CESC-US191278096412780964single base substitutionGAupstream_gene_variant
CESC-US191278158012781580single base substitutionGA3_prime_UTR_variant
CESC-US191278158012781580single base substitutionGAexon_variant
CESC-US191278158012781580single base substitutionGAintron_variant
CESC-US191278158012781580single base substitutionGAmissense_variantE151K451G>A
CESC-US191278158012781580single base substitutionGAmissense_variantE53K157G>A
CESC-US191278158012781580single base substitutionGAupstream_gene_variant
CESC-US191278801012788010single base substitutionTCdownstream_gene_variant
CLLE-ES191277893312778933single base substitutionTAintron_variant
CLLE-ES191277893312778933single base substitutionTAupstream_gene_variant
COAD-US191277418512774185single base substitutionGAupstream_gene_variant
COAD-US191277462212774622single base substitutionGAupstream_gene_variant
COAD-US191277571112775711single base substitutionCTupstream_gene_variant
COAD-US191277659912776599single base substitutionCTupstream_gene_variant
COAD-US191278159412781594single base substitutionCT3_prime_UTR_variant
COAD-US191278159412781594single base substitutionCTdownstream_gene_variant
COAD-US191278159412781594single base substitutionCTexon_variant
COAD-US191278159412781594single base substitutionCTintron_variant
COAD-US191278159412781594single base substitutionCTsynonymous_variantG155G465C>T
COAD-US191278159412781594single base substitutionCTsynonymous_variantG57G171C>T
COAD-US191278159412781594single base substitutionCTupstream_gene_variant
COAD-US191278691412786914single base substitutionCAdownstream_gene_variant
COAD-US191278694512786945single base substitutionGAdownstream_gene_variant
COAD-US191279066312790663single base substitutionCTdownstream_gene_variant
COCA-CN191277453312774533single base substitutionGAupstream_gene_variant
COCA-CN191277576112775761single base substitutionCTupstream_gene_variant
COCA-CN191278115612781156single base substitutionGTintron_variant
COCA-CN191278115612781156single base substitutionGTupstream_gene_variant
COCA-CN191278155412781554single base substitutionGA3_prime_UTR_variant
COCA-CN191278155412781554single base substitutionGAexon_variant
COCA-CN191278155412781554single base substitutionGAintron_variant
COCA-CN191278155412781554single base substitutionGAmissense_variantR142K425G>A
COCA-CN191278155412781554single base substitutionGAmissense_variantR44K131G>A
COCA-CN191278155412781554single base substitutionGAupstream_gene_variant
COCA-CN191278402812784028single base substitutionTC3_prime_UTR_variant
COCA-CN191278402812784028single base substitutionTCdownstream_gene_variant
COCA-CN191278402812784028single base substitutionTCexon_variant
COCA-CN191278402812784028single base substitutionTCsynonymous_variantH163H489T>C
COCA-CN191278402812784028single base substitutionTCsynonymous_variantH232H696T>C
COCA-CN191278673212786732single base substitutionACdownstream_gene_variant
COCA-CN191278687812786878single base substitutionCTdownstream_gene_variant
COCA-CN191278817412788174single base substitutionCTdownstream_gene_variant
COCA-CN191279062612790626single base substitutionGAdownstream_gene_variant
ESAD-UK191277267712772677single base substitutionGAupstream_gene_variant
ESAD-UK191277617112776171single base substitutionCTupstream_gene_variant
ESAD-UK191277735912777359single base substitutionCTupstream_gene_variant
ESAD-UK191277798612777986single base substitutionACintron_variant
ESAD-UK191277798612777986single base substitutionACupstream_gene_variant
ESAD-UK191277954512779545single base substitutionCTintron_variant
ESAD-UK191277954512779545single base substitutionCTupstream_gene_variant
ESAD-UK191278041312780413single base substitutionGAexon_variant
ESAD-UK191278041312780413single base substitutionGAintron_variant
ESAD-UK191278041312780413single base substitutionGAupstream_gene_variant
ESAD-UK191278325612783256single base substitutionCGdownstream_gene_variant
ESAD-UK191278325612783256single base substitutionCGexon_variant
ESAD-UK191278325612783256single base substitutionCGintron_variant
ESAD-UK191278434512784345single base substitutionCTdownstream_gene_variant
ESAD-UK191278434512784345single base substitutionCTintron_variant
ESAD-UK191278595212785952single base substitutionCTdownstream_gene_variant
ESAD-UK191278595212785952single base substitutionCTintron_variant
ESAD-UK191278718512787185single base substitutionCTdownstream_gene_variant
ESAD-UK191278991912789919single base substitutionGAdownstream_gene_variant
ESCA-CN191277924412779244single base substitutionGAintron_variant
ESCA-CN191277924412779244single base substitutionGAupstream_gene_variant
ESCA-CN191279110112791101single base substitutionGTdownstream_gene_variant
GBM-US191277932012779320single base substitutionAGsplice_acceptor_variant
GBM-US191277932012779320single base substitutionAGupstream_gene_variant
LAML-KR191279149812791498single base substitutionCAdownstream_gene_variant
LAML-KR191279154512791545single base substitutionTAdownstream_gene_variant
LICA-FR191277823112778231single base substitutionCTintron_variant
LICA-FR191277823112778231single base substitutionCTupstream_gene_variant
LICA-FR191277997412779974single base substitutionTCintron_variant
LICA-FR191277997412779974single base substitutionTCupstream_gene_variant
LICA-FR191278445112784451single base substitutionTCdownstream_gene_variant
LICA-FR191278445112784451single base substitutionTCintron_variant
LICA-FR191279052912790529single base substitutionCTdownstream_gene_variant
LIHC-US191277659912776599single base substitutionCGupstream_gene_variant
LIHC-US191277999612779996single base substitutionCTintron_variant
LIHC-US191277999612779996single base substitutionCTupstream_gene_variant
LINC-JP191277321712773217single base substitutionGAupstream_gene_variant
LINC-JP191278347712783477single base substitutionGTdownstream_gene_variant
LINC-JP191278347712783477single base substitutionGTexon_variant
LINC-JP191278347712783477single base substitutionGTintron_variant
LINC-JP191278617012786170single base substitutionTGdownstream_gene_variant
LINC-JP191278617012786170single base substitutionTGintron_variant
LINC-JP191278818712788187single base substitutionGAdownstream_gene_variant
LIRI-JP191277366612773666single base substitutionCAupstream_gene_variant
LIRI-JP191277493112774931single base substitutionTAupstream_gene_variant
LIRI-JP191277523812775238single base substitutionCAupstream_gene_variant
LIRI-JP191277735512777355single base substitutionATupstream_gene_variant
LIRI-JP191278126212781262single base substitutionTGintron_variant
LIRI-JP191278126212781262single base substitutionTGupstream_gene_variant
LIRI-JP191278365412783654single base substitutionCAdownstream_gene_variant
LIRI-JP191278365412783654single base substitutionCAexon_variant
LIRI-JP191278365412783654single base substitutionCAintron_variant
LIRI-JP191278365412783654single base substitutionCAsplice_region_variant
LIRI-JP191278496112784961single base substitutionGAdownstream_gene_variant
LIRI-JP191278496112784961single base substitutionGAintron_variant
LIRI-JP191278759212787592single base substitutionGTdownstream_gene_variant
LIRI-JP191278896012788960single base substitutionGCdownstream_gene_variant
LIRI-JP191279116912791169single base substitutionAGdownstream_gene_variant
LIRI-JP191279162112791621single base substitutionTCdownstream_gene_variant
LUSC-KR191277613212776132single base substitutionGAupstream_gene_variant
LUSC-KR191277879512778795single base substitutionCTintron_variant
LUSC-KR191277879512778795single base substitutionCTupstream_gene_variant
LUSC-KR191278108812781088single base substitutionGA3_prime_UTR_variant
LUSC-KR191278108812781088single base substitutionGAexon_variant
LUSC-KR191278108812781088single base substitutionGAmissense_variantG107S319G>A
LUSC-KR191278108812781088single base substitutionGAmissense_variantG9S25G>A
LUSC-KR191278108812781088single base substitutionGAupstream_gene_variant
LUSC-KR191278160212781602single base substitutionGA3_prime_UTR_variant
LUSC-KR191278160212781602single base substitutionGAdownstream_gene_variant
LUSC-KR191278160212781602single base substitutionGAexon_variant
LUSC-KR191278160212781602single base substitutionGAintron_variant
LUSC-KR191278160212781602single base substitutionGAmissense_variantS158N473G>A
LUSC-KR191278160212781602single base substitutionGAmissense_variantS60N179G>A
LUSC-KR191278160212781602single base substitutionGAupstream_gene_variant
LUSC-KR191278207212782072single base substitutionTAdownstream_gene_variant
LUSC-KR191278207212782072single base substitutionTAintron_variant
LUSC-KR191278207212782072single base substitutionTAupstream_gene_variant
LUSC-KR191278623712786237single base substitutionGAdownstream_gene_variant
LUSC-KR191278623712786237single base substitutionGAintron_variant
LUSC-KR191279149812791498single base substitutionCAdownstream_gene_variant
LUSC-US191279066112790661single base substitutionCAdownstream_gene_variant
MALY-DE191277376612773766single base substitutionATupstream_gene_variant
MALY-DE191277447012774470single base substitutionTCupstream_gene_variant
MALY-DE191277487312774873single base substitutionCGupstream_gene_variant
MALY-DE191277820412778204single base substitutionGTintron_variant
MALY-DE191277820412778204single base substitutionGTupstream_gene_variant
MALY-DE191278048712780487single base substitutionATexon_variant
MALY-DE191278048712780487single base substitutionATintron_variant
MALY-DE191278048712780487single base substitutionATupstream_gene_variant
MALY-DE191278240212782402single base substitutionCGdownstream_gene_variant
MALY-DE191278240212782402single base substitutionCGintron_variant
MALY-DE191278240212782402single base substitutionCGupstream_gene_variant
MALY-DE191278726512787265insertion of <=200bp-CTGCATGGTdownstream_gene_variant
MALY-DE191279038212790382single base substitutionCTdownstream_gene_variant
MELA-AU191277306612773066single base substitutionGAupstream_gene_variant
MELA-AU191277310912773109single base substitutionGAupstream_gene_variant
MELA-AU191277326012773260single base substitutionGAupstream_gene_variant
MELA-AU191277342312773423single base substitutionGAupstream_gene_variant
MELA-AU191277345312773453single base substitutionGAupstream_gene_variant
MELA-AU191277398212773982single base substitutionCTupstream_gene_variant
MELA-AU191277461012774610single base substitutionGAupstream_gene_variant
MELA-AU191277466512774665single base substitutionGAupstream_gene_variant
MELA-AU191277496712774967single base substitutionGAupstream_gene_variant
MELA-AU191277537812775378single base substitutionGAupstream_gene_variant
MELA-AU191277538012775380single base substitutionGAupstream_gene_variant
MELA-AU191277570412775704single base substitutionATupstream_gene_variant
MELA-AU191277595712775957single base substitutionGAupstream_gene_variant
MELA-AU191277615412776154single base substitutionGAupstream_gene_variant
MELA-AU191277636812776368single base substitutionGAupstream_gene_variant
MELA-AU191277748912777489single base substitutionCTupstream_gene_variant
MELA-AU191277760712777607single base substitutionGAupstream_gene_variant
MELA-AU191277768912777689single base substitutionGA5_prime_UTR_variant
MELA-AU191277768912777689single base substitutionGAexon_variant
MELA-AU191277768912777689single base substitutionGAupstream_gene_variant
MELA-AU191277782812777828single base substitutionCTintron_variant
MELA-AU191277782812777828single base substitutionCTupstream_gene_variant
MELA-AU191277847312778473single base substitutionCTintron_variant
MELA-AU191277847312778473single base substitutionCTupstream_gene_variant
MELA-AU191277878112778781single base substitutionGAintron_variant
MELA-AU191277878112778781single base substitutionGAupstream_gene_variant
MELA-AU191277884712778847single base substitutionGAintron_variant
MELA-AU191277884712778847single base substitutionGAupstream_gene_variant
MELA-AU191277910112779101single base substitutionATintron_variant
MELA-AU191277910112779101single base substitutionATupstream_gene_variant
MELA-AU191277913412779134single base substitutionGAintron_variant
MELA-AU191277913412779134single base substitutionGAupstream_gene_variant
MELA-AU191278024412780244single base substitutionCTintron_variant
MELA-AU191278024412780244single base substitutionCTupstream_gene_variant
MELA-AU191278026012780260single base substitutionCTintron_variant
MELA-AU191278026012780260single base substitutionCTupstream_gene_variant
MELA-AU191278032712780327single base substitutionCTintron_variant
MELA-AU191278032712780327single base substitutionCTupstream_gene_variant
MELA-AU191278045812780458single base substitutionGAexon_variant
MELA-AU191278045812780458single base substitutionGAintron_variant
MELA-AU191278045812780458single base substitutionGAupstream_gene_variant
MELA-AU191278135912781359single base substitutionTA3_prime_UTR_variant
MELA-AU191278135912781359single base substitutionTAexon_variant
MELA-AU191278135912781359single base substitutionTAintron_variant
MELA-AU191278135912781359single base substitutionTAupstream_gene_variant
MELA-AU191278154012781540single base substitutionTC3_prime_UTR_variant
MELA-AU191278154012781540single base substitutionTCexon_variant
MELA-AU191278154012781540single base substitutionTCintron_variant
MELA-AU191278154012781540single base substitutionTCsynonymous_variantD137D411T>C
MELA-AU191278154012781540single base substitutionTCsynonymous_variantD39D117T>C
MELA-AU191278154012781540single base substitutionTCupstream_gene_variant
MELA-AU191278365912783659single base substitutionAGdownstream_gene_variant
MELA-AU191278365912783659single base substitutionAGexon_variant
MELA-AU191278365912783659single base substitutionAGsplice_acceptor_variant
MELA-AU191278409912784099single base substitutionAG3_prime_UTR_variant
MELA-AU191278409912784099single base substitutionAGdownstream_gene_variant
MELA-AU191278409912784099single base substitutionAGexon_variant
MELA-AU191278409912784099single base substitutionAGmissense_variantD187G560A>G
MELA-AU191278409912784099single base substitutionAGmissense_variantD256G767A>G
MELA-AU191278518812785188single base substitutionGAdownstream_gene_variant
MELA-AU191278518812785188single base substitutionGAintron_variant
MELA-AU191278651812786518single base substitutionCT3_prime_UTR_variant
MELA-AU191278651812786518single base substitutionCTdownstream_gene_variant
MELA-AU191278651812786518single base substitutionCTexon_variant
MELA-AU191278701612787016single base substitutionGAdownstream_gene_variant
MELA-AU191279075012790750single base substitutionGAdownstream_gene_variant
MELA-AU191279119212791192single base substitutionGAdownstream_gene_variant
MELA-AU191279133412791334single base substitutionGAdownstream_gene_variant
ORCA-IN191278648212786482single base substitutionGT3_prime_UTR_variant
ORCA-IN191278648212786482single base substitutionGTdownstream_gene_variant
ORCA-IN191278648212786482single base substitutionGTexon_variant
ORCA-IN191278648212786482single base substitutionGTmissense_variantG315V944G>T
OV-AU191277366712773667single base substitutionGAupstream_gene_variant
OV-AU191277760212777602single base substitutionTGupstream_gene_variant
OV-AU191277787012777870single base substitutionGAintron_variant
OV-AU191277787012777870single base substitutionGAupstream_gene_variant
OV-AU191277978512779785single base substitutionTCintron_variant
OV-AU191277978512779785single base substitutionTCupstream_gene_variant
OV-AU191278358912783589single base substitutionGAdownstream_gene_variant
OV-AU191278358912783589single base substitutionGAexon_variant
OV-AU191278358912783589single base substitutionGAintron_variant
OV-AU191278611712786117single base substitutionCTdownstream_gene_variant
OV-AU191278611712786117single base substitutionCTintron_variant
OV-US191277579012775790single base substitutionTAupstream_gene_variant
OV-US191277630212776302single base substitutionGCupstream_gene_variant
PACA-AU191277367612773676single base substitutionCTupstream_gene_variant
PACA-AU191277534612775346deletion of <=200bpG-upstream_gene_variant
PACA-AU191277592412775924single base substitutionCTupstream_gene_variant
PACA-AU191277753512777535insertion of <=200bp-GGupstream_gene_variant
PACA-AU191278031712780317single base substitutionCTintron_variant
PACA-AU191278031712780317single base substitutionCTupstream_gene_variant
PACA-AU191278087912780879single base substitutionCTexon_variant
PACA-AU191278087912780879single base substitutionCTsynonymous_variantS64S192C>T
PACA-AU191278087912780879single base substitutionCTupstream_gene_variant
PACA-AU191278336212783362single base substitutionCTdownstream_gene_variant
PACA-AU191278336212783362single base substitutionCTexon_variant
PACA-AU191278336212783362single base substitutionCTintron_variant
PACA-AU191278336212783362single base substitutionCTmissense_variantR100C298C>T
PACA-CA191277382912773829single base substitutionCTupstream_gene_variant
PACA-CA191277453012774530single base substitutionCTupstream_gene_variant
PACA-CA191277666812776668single base substitutionCTupstream_gene_variant
PACA-CA191277915312779153single base substitutionGAintron_variant
PACA-CA191277915312779153single base substitutionGAupstream_gene_variant
PACA-CA191278790712787907single base substitutionGAdownstream_gene_variant
PBCA-DE191277433912774339single base substitutionGAupstream_gene_variant
PBCA-DE191277463812774638single base substitutionGAupstream_gene_variant
PBCA-DE191277940912779409single base substitutionGA5_prime_UTR_variant
PBCA-DE191277940912779409single base substitutionGAexon_variant
PBCA-DE191277940912779409single base substitutionGAupstream_gene_variant
PRAD-CA191277854712778547single base substitutionGAintron_variant
PRAD-CA191277854712778547single base substitutionGAupstream_gene_variant
PRAD-UK191277636912776369single base substitutionGTupstream_gene_variant
PRAD-UK191278362812783628single base substitutionCGdownstream_gene_variant
PRAD-UK191278362812783628single base substitutionCGexon_variant
PRAD-UK191278362812783628single base substitutionCGintron_variant
PRAD-UK191278973512789735single base substitutionGAdownstream_gene_variant
PRAD-US191278068612780686single base substitutionGAexon_variant
PRAD-US191278068612780686single base substitutionGAmissense_variantV28M82G>A
PRAD-US191278068612780686single base substitutionGAupstream_gene_variant
PRAD-US191278086012780860single base substitutionCAexon_variant
PRAD-US191278086012780860single base substitutionCAmissense_variantT58K173C>A
PRAD-US191278086012780860single base substitutionCAupstream_gene_variant
SKCA-BR191277767312777673single base substitutionTG5_prime_UTR_variant
SKCA-BR191277767312777673single base substitutionTGexon_variant
SKCA-BR191277767312777673single base substitutionTGupstream_gene_variant
SKCA-BR191278011112780111single base substitutionACintron_variant
SKCA-BR191278011112780111single base substitutionACupstream_gene_variant
SKCA-BR191278035212780352single base substitutionCTintron_variant
SKCA-BR191278035212780352single base substitutionCTupstream_gene_variant
SKCA-BR191278040312780403single base substitutionGAexon_variant
SKCA-BR191278040312780403single base substitutionGAintron_variant
SKCA-BR191278040312780403single base substitutionGAupstream_gene_variant
SKCA-BR191278623212786232single base substitutionTGdownstream_gene_variant
SKCA-BR191278623212786232single base substitutionTGintron_variant
SKCA-BR191278626712786267single base substitutionTGdownstream_gene_variant
SKCA-BR191278626712786267single base substitutionTGintron_variant
SKCA-BR191278683312786833single base substitutionTGdownstream_gene_variant
SKCA-BR191278889112788891single base substitutionACdownstream_gene_variant
SKCM-US191277419312774193single base substitutionGAupstream_gene_variant
SKCM-US191277453812774538single base substitutionGAupstream_gene_variant
SKCM-US191278085312780853single base substitutionCTexon_variant
SKCM-US191278085312780853single base substitutionCTmissense_variantR56W166C>T
SKCM-US191278085312780853single base substitutionCTupstream_gene_variant
SKCM-US191278409912784099single base substitutionAG3_prime_UTR_variant
SKCM-US191278409912784099single base substitutionAGdownstream_gene_variant
SKCM-US191278409912784099single base substitutionAGexon_variant
SKCM-US191278409912784099single base substitutionAGmissense_variantD187G560A>G
SKCM-US191278409912784099single base substitutionAGmissense_variantD256G767A>G
SKCM-US191279053012790530single base substitutionGAdownstream_gene_variant
SKCM-US191279111612791116single base substitutionCTdownstream_gene_variant
STAD-US191277422812774228single base substitutionAGupstream_gene_variant
STAD-US191277425512774255single base substitutionTCupstream_gene_variant
STAD-US191277453012774530single base substitutionCTupstream_gene_variant
STAD-US191277619412776194single base substitutionCAupstream_gene_variant
STAD-US191277652912776529single base substitutionAGupstream_gene_variant
STAD-US191277653712776537single base substitutionAGupstream_gene_variant
STAD-US191277938812779388single base substitutionCT5_prime_UTR_premature_start_codon_gain_variant
STAD-US191277938812779388single base substitutionCTexon_variant
STAD-US191277938812779388single base substitutionCTupstream_gene_variant
STAD-US191277942412779424single base substitutionCT5_prime_UTR_variant
STAD-US191277942412779424single base substitutionCTexon_variant
STAD-US191277942412779424single base substitutionCTupstream_gene_variant
STAD-US191278392812783928single base substitutionCTdownstream_gene_variant
STAD-US191278392812783928single base substitutionCTsplice_region_variant
STAD-US191279034312790343single base substitutionCTdownstream_gene_variant
STAD-US191279051012790510single base substitutionTAdownstream_gene_variant
STAD-US191279107512791075single base substitutionCTdownstream_gene_variant
THCA-SA191277420812774208single base substitutionGCupstream_gene_variant
THCA-SA191277561512775615single base substitutionCAupstream_gene_variant
THCA-US191277748812777488deletion of <=200bpC-upstream_gene_variant
THCA-US191278067312780673single base substitutionCTexon_variant
THCA-US191278067312780673single base substitutionCTsynonymous_variantC23C69C>T
THCA-US191278067312780673single base substitutionCTupstream_gene_variant
UCEC-US191277464112774641single base substitutionGAupstream_gene_variant
UCEC-US191277570612775706single base substitutionCTupstream_gene_variant
UCEC-US191277576112775761single base substitutionCTupstream_gene_variant
UCEC-US191277578512775785single base substitutionCTupstream_gene_variant
UCEC-US191277618712776187single base substitutionCTupstream_gene_variant
UCEC-US191277918612779186single base substitutionGAintron_variant
UCEC-US191277918612779186single base substitutionGAupstream_gene_variant
UCEC-US191278003512780035single base substitutionCTintron_variant
UCEC-US191278003512780035single base substitutionCTupstream_gene_variant
UCEC-US191278018412780184single base substitutionGAintron_variant
UCEC-US191278018412780184single base substitutionGAupstream_gene_variant
UCEC-US191278083812780838single base substitutionCTexon_variant
UCEC-US191278083812780838single base substitutionCTsynonymous_variantL51L151C>T
UCEC-US191278083812780838single base substitutionCTupstream_gene_variant
UCEC-US191278108312781083single base substitutionTC3_prime_UTR_variant
UCEC-US191278108312781083single base substitutionTCexon_variant
UCEC-US191278108312781083single base substitutionTCmissense_variantF105S314T>C
UCEC-US191278108312781083single base substitutionTCmissense_variantF7S20T>C
UCEC-US191278108312781083single base substitutionTCupstream_gene_variant
UCEC-US191278109012781090single base substitutionCT3_prime_UTR_variant
UCEC-US191278109012781090single base substitutionCTexon_variant
UCEC-US191278109012781090single base substitutionCTsynonymous_variantG107G321C>T
UCEC-US191278109012781090single base substitutionCTsynonymous_variantG9G27C>T
UCEC-US191278109012781090single base substitutionCTupstream_gene_variant
UCEC-US191278159412781594single base substitutionCT3_prime_UTR_variant
UCEC-US191278159412781594single base substitutionCTdownstream_gene_variant
UCEC-US191278159412781594single base substitutionCTexon_variant
UCEC-US191278159412781594single base substitutionCTintron_variant
UCEC-US191278159412781594single base substitutionCTsynonymous_variantG155G465C>T
UCEC-US191278159412781594single base substitutionCTsynonymous_variantG57G171C>T
UCEC-US191278159412781594single base substitutionCTupstream_gene_variant
UCEC-US191278634012786340single base substitutionGC3_prime_UTR_variant
UCEC-US191278634012786340single base substitutionGCdownstream_gene_variant
UCEC-US191278634012786340single base substitutionGCexon_variant
UCEC-US191278634012786340single base substitutionGCmissense_variantA199P595G>C
UCEC-US191278634012786340single base substitutionGCmissense_variantA268P802G>C
UCEC-US191278647812786493deletion of <=200bpGCAGGCTGAAGCCAGG-3_prime_UTR_variant
UCEC-US191278647812786493deletion of <=200bpGCAGGCTGAAGCCAGG-downstream_gene_variant
UCEC-US191278647812786493deletion of <=200bpGCAGGCTGAAGCCAGG-exon_variant
UCEC-US191278647812786493deletion of <=200bpGCAGGCTGAAGCCAGG-frameshift_variantAG*314
UCEC-US191278687812786878single base substitutionCTdownstream_gene_variant
UCEC-US191278798612787986single base substitutionCTdownstream_gene_variant
UCEC-US191278816312788163single base substitutionGAdownstream_gene_variant
UCEC-US191279066112790661single base substitutionCTdownstream_gene_variant
UCEC-US191279100912791009single base substitutionCTdownstream_gene_variant
UCEC-US191279101012791010single base substitutionGAdownstream_gene_variant
UCEC-US191279109112791091single base substitutionCTdownstream_gene_variant
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
TCGA-D1-A15X-01COSM991397c.802G>Cp.A268PSubstitution - Missense19:12675526-12675526+
8016470COSM3388594c.192C>Tp.S64SSubstitution - coding silent19:12670065-12670065+
2497780COSM5750939c.733G>Tp.E245*Substitution - Nonsense19:12673251-12673251+
TCGA-D1-A174-01COSM991396c.465C>Tp.G155GSubstitution - coding silent19:12670780-12670780+
587224COSM1232685c.910C>Tp.R304*Substitution - Nonsense19:12675634-12675634+
NCI-H2126COSM26571c.430G>Cp.E144QSubstitution - Missense19:12670745-12670745+
TCGA-B5-A11E-01COSM991395c.321C>Tp.G107GSubstitution - coding silent19:12670276-12670276+
TCGA-EJ-7793-01COSM3783181c.82G>Ap.V28MSubstitution - Missense19:12669872-12669872+
TCGA-A8-A09I-01COSM438619c.679G>Tp.G227CSubstitution - Missense19:12673112-12673112+
91827COSM330364c.911G>Ap.R304QSubstitution - Missense19:12675635-12675635+
TCGA-A8-A0A1-01COSM3822006c.191G>Tp.S64ISubstitution - Missense19:12670064-12670064+
LIM2551COSM4644169c.798G>Ap.E266ESubstitution - coding silent19:12673316-12673316+
TCGA-HC-7742-01COSM3672734c.173C>Ap.T58KSubstitution - Missense19:12670046-12670046+
GHE1438COSM5715263c.9C>Ap.F3LSubstitution - Missense19:12669799-12669799+
OSCC-GB_00070111COSM3712798c.944G>Tp.G315VSubstitution - Missense19:12675668-12675668+
7TCOSM3712798c.944G>Tp.G315VSubstitution - Missense19:12675668-12675668+
SC_9047COSM5556001c.224G>Ap.G75DSubstitution - Missense19:12670097-12670097+
TCGA-EE-A3AB-06COSM3528791c.767A>Gp.D256GSubstitution - Missense19:12673285-12673285+
PD4001aCOSM165592c.367G>Cp.V123LSubstitution - Missense19:12670599-12670599+
TCGA-HU-8602-01COSM4074393c.681C>Tp.G227GSubstitution - coding silent19:12673114-12673114+
CCK81COSM2816186c.110G>Ap.G37DSubstitution - Missense19:12669983-12669983+
446COSM4434974c.72G>Ap.G24GSubstitution - coding silent19:12669862-12669862+
ACINAR01COSM1733065c.898G>Ap.V300ISubstitution - Missense19:12675622-12675622+
RK256_C01COSM4946352c.507-7C>Ap.?Unknown19:12672840-12672840+
LUAD-RT-S01702COSM379174c.684-2A>Gp.?Unknown19:12673200-12673200+
TCGA-E7-A3X6-01COSM3796640c.141G>Ap.K47KSubstitution - coding silent19:12670014-12670014+
TCGA-G2-A3IE-01COSM1304035c.903G>Tp.Q301HSubstitution - Missense19:12675627-12675627+
TCGA-A5-A0GP-01COSM991394c.314T>Cp.F105SSubstitution - Missense19:12670269-12670269+
HT115COSM2816188c.214G>Cp.D72HSubstitution - Missense19:12670087-12670087+
T3202COSM4741100c.799-2A>Gp.?Unknown19:12675521-12675521+
262LTCOSM4382553c.361G>Ap.A121TSubstitution - Missense19:12670593-12670593+
ME009TCOSM223974c.9_10CC>TTp.F3>?Complex19:12669799-12669800+
TCGA-C5-A1BK-01COSM4826167c.451G>Ap.E151KSubstitution - Missense19:12670766-12670766+
CRC-02TCOSM5454675c.696T>Cp.H232HSubstitution - coding silent19:12673214-12673214+
RKOCOSM4648195c.479A>Cp.K160TSubstitution - Missense19:12670794-12670794+
99459COSM96034c.342G>Ap.T114TSubstitution - coding silent19:12670574-12670574+
TCGA-D1-A17Q-01COSM991393c.151C>Tp.L51LSubstitution - coding silent19:12670024-12670024+
SWE-14COSM1178895c.804G>Tp.A268ASubstitution - coding silent19:12675528-12675528+
TCGA-EE-A2GP-06COSM3528790c.166C>Tp.R56WSubstitution - Missense19:12670039-12670039+
TCGA-FE-A230-01COSM3371157c.69C>Tp.C23CSubstitution - coding silent19:12669859-12669859+
SNU-C4COSM4653033c.127T>Gp.C43GSubstitution - Missense19:12670000-12670000+
TCGA-AD-6889-01COSM991396c.465C>Tp.G155GSubstitution - coding silent19:12670780-12670780+
T3090COSM4741099c.72G>Tp.G24GSubstitution - coding silent19:12669862-12669862+
S02286COSM5685272c.131G>Tp.G44VSubstitution - Missense19:12670004-12670004+
I2L-P7-Tumor-OrganoidCOSM5365654c.421C>Tp.R141WSubstitution - Missense19:12670736-12670736+
LUAD-S01315COSM344672c.458G>Cp.R153TSubstitution - Missense19:12670773-12670773+
PASFXACOSM5006042c.799-1G>Tp.?Unknown19:12675522-12675522+
TCGA-B5-A0JR-01COSM991398c.940_948delGCAGGCTGAp.A314_*316delAG*Deletion - In frame
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.657201;Hs.657202;Hs.657203;Hs.65720419p13.2
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
AGMissensep.D256Gc.767A>G1912784099CM
AGSpliceAcceptorSNV.c.1-1285A>G1912779320GBM
CAMissensep.T58Kc.173C>A1912780860PRAD
CCTTMissensep.P4Sc.9_10delinsTT1912780613CM
CGATMissensep.T114Nc.341_342delinsAT1912781387CM
CGIntronicSNV.c.799-18C>G1912786319NSCLC
CTMissensep.R56Wc.166C>T1912780853CM
GASynonymousp.R201Rc.603G>A1912783850CM
GCMissensep.V123Lc.367G>C1912781413BRCA
GTMissensep.G227Cc.679G>T1912783926BRCA
GTMissensep.G75Cc.223G>T1912780910CM
GTMissensep.Q301Hc.903G>T1912786441BLCA
TAMissensep.L217Hc.650T>A1912783897RCCC
TCMissensep.F105Sc.314T>C1912781083UCEC