FBXL3
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA137758168677581686+Missense_MutationSNPAACTCGA-DK-A6AW-01A-11D-A30E-08TCGA-DK-A6AW-10A-01D-A30H-08g.chr13:77581686A>Cc.881T>Gc.(880-882)tTt>tGtp.F294C
BLCA137758170077581700+SilentSNPTTCTCGA-XF-AAML-01A-11D-A42E-08TCGA-XF-AAML-10A-01D-A42H-08g.chr13:77581700T>Cc.867A>Gc.(865-867)ttA>ttGp.L289L
BLCA137758181677581816+Nonsense_MutationSNPGGATCGA-DK-A6AW-01A-11D-A30E-08TCGA-DK-A6AW-10A-01D-A30H-08g.chr13:77581816G>Ac.751C>Tc.(751-753)Cga>Tgap.R251*
BLCA137758958777589587+SilentSNPGGCTCGA-UY-A78K-01A-11D-A339-08TCGA-UY-A78K-10A-01D-A339-08g.chr13:77589587G>Cc.600C>Gc.(598-600)ctC>ctGp.L200L
BLCA137759583977595839+Missense_MutationSNPGGCTCGA-S5-A6DX-01A-11D-A31L-08TCGA-S5-A6DX-10A-01D-A31J-08g.chr13:77595839G>Cc.157C>Gc.(157-159)Ctt>Gttp.L53V
BLCA137759593477595934+Missense_MutationSNPGGATCGA-ZF-A9R4-01A-11D-A38G-08TCGA-ZF-A9R4-10A-01D-A38J-08g.chr13:77595934G>Ac.62C>Tc.(61-63)tCc>tTcp.S21F
BLCA137759596177595961+Missense_MutationSNPGGATCGA-ZF-A9R4-01A-11D-A38G-08TCGA-ZF-A9R4-10A-01D-A38J-08g.chr13:77595961G>Ac.35C>Tc.(34-36)tCa>tTap.S12L
BRCA137758159077581590+Missense_MutationSNPCCTTCGA-E2-A1LE-01A-12D-A19Y-09TCGA-E2-A1LE-11A-23D-A19Y-09g.chr13:77581590C>Tc.977G>Ac.(976-978)cGt>cAtp.R326H
BRCA137759587977595879+SilentSNPGGATCGA-EW-A2FV-01A-11D-A17D-09TCGA-EW-A2FV-10A-01D-A17D-09g.chr13:77595879G>Ac.117C>Tc.(115-117)ctC>ctTp.L39L
BRCA137759589577595895+Missense_MutationSNPCCGTCGA-E2-A154-01A-11D-A10Y-09TCGA-E2-A154-10A-01D-A110-09g.chr13:77595895C>Gc.101G>Cc.(100-102)tGt>tCtp.C34S
CESC137758172477581724+SilentSNPGGATCGA-C5-A1BQ-01C-11D-A20U-09TCGA-C5-A1BQ-10A-01D-A20U-09g.chr13:77581724G>Ac.843C>Tc.(841-843)atC>atTp.I281I
COAD137758150977581509+Missense_MutationSNPCCTTCGA-AZ-4315-01A-01D-1408-10TCGA-AZ-4315-10A-01D-1408-10g.chr13:77581509C>Tc.1058G>Ac.(1057-1059)cGc>cAcp.R353H
COAD137758159377581593+Missense_MutationSNPCCTTCGA-AZ-4315-01A-01D-1408-10TCGA-AZ-4315-10A-01D-1408-10g.chr13:77581593C>Tc.974G>Ac.(973-975)gGc>gAcp.G325D
COAD137758180077581800+Missense_MutationSNPCCTTCGA-AA-A00N-01A-02W-A00E-09TCGA-AA-A00N-10A-01W-A00E-09g.chr13:77581800C>Tc.767G>Ac.(766-768)cGc>cAcp.R256H
COAD137758181877581818+Missense_MutationSNPAAGTCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr13:77581818A>Gc.749T>Cc.(748-750)gTt>gCtp.V250A
COAD137758959077589590+SilentSNPTTGTCGA-AA-3984-01A-02W-0995-10TCGA-AA-3984-10A-01W-0999-10g.chr13:77589590T>Gc.597A>Cc.(595-597)acA>acCp.T199T
COAD137759583077595830+Missense_MutationSNPGGATCGA-AZ-6598-01A-11D-1771-10TCGA-AZ-6598-11A-01D-1771-10g.chr13:77595830G>Ac.166C>Tc.(166-168)Cgg>Tggp.R56W
COADREAD137758150977581509+Missense_MutationSNPCCTTCGA-AZ-4315-01A-01D-1408-10TCGA-AZ-4315-10A-01D-1408-10g.chr13:77581509C>Tc.1058G>Ac.(1057-1059)cGc>cAcp.R353H
COADREAD137758159377581593+Missense_MutationSNPCCTTCGA-AZ-4315-01A-01D-1408-10TCGA-AZ-4315-10A-01D-1408-10g.chr13:77581593C>Tc.974G>Ac.(973-975)gGc>gAcp.G325D
COADREAD137758168777581687+Missense_MutationSNPAACTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr13:77581687A>Cc.880T>Gc.(880-882)Ttt>Gttp.F294V
COADREAD137758180077581800+Missense_MutationSNPCCTTCGA-AA-A00N-01A-02W-A00E-09TCGA-AA-A00N-10A-01W-A00E-09g.chr13:77581800C>Tc.767G>Ac.(766-768)cGc>cAcp.R256H
COADREAD137758181877581818+Missense_MutationSNPAAGTCGA-AA-A010-01A-01W-A00E-09TCGA-AA-A010-10A-01W-A00E-09g.chr13:77581818A>Gc.749T>Cc.(748-750)gTt>gCtp.V250A
COADREAD137758959077589590+SilentSNPTTGTCGA-AA-3984-01A-02W-0995-10TCGA-AA-3984-10A-01W-0999-10g.chr13:77589590T>Gc.597A>Cc.(595-597)acA>acCp.T199T
COADREAD137758965977589659+SilentSNPCCTTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr13:77589659C>Tc.528G>Ac.(526-528)tcG>tcAp.S176S
COADREAD137759583077595830+Missense_MutationSNPGGATCGA-AZ-6598-01A-11D-1771-10TCGA-AZ-6598-11A-01D-1771-10g.chr13:77595830G>Ac.166C>Tc.(166-168)Cgg>Tggp.R56W
GBMLGG137758181577581815+Missense_MutationSNPCCTTCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr13:77581815C>Tc.752G>Ac.(751-753)cGa>cAap.R251Q
GBMLGG137758181577581815+Missense_MutationSNPCCTTCGA-P5-A5EX-01A-12D-A289-08TCGA-P5-A5EX-10A-01D-A289-08g.chr13:77581815C>Tc.752G>Ac.(751-753)cGa>cAap.R251Q
HNSC137758145177581451+SilentSNPTTCTCGA-F7-A624-01A-22D-A30E-08TCGA-F7-A624-10A-01D-A30H-08g.chr13:77581451T>Cc.1116A>Gc.(1114-1116)tcA>tcGp.S372S
HNSC137758146677581466+SilentSNPCCGTCGA-KU-A66S-01A-21D-A30E-08TCGA-KU-A66S-10A-01D-A30H-08g.chr13:77581466C>Gc.1101G>Cc.(1099-1101)ggG>ggCp.G367G
HNSC137758183777581837+SilentSNPAAGTCGA-D6-8569-01A-11D-2394-08TCGA-D6-8569-10A-01D-2394-08g.chr13:77581837A>Gc.730T>Cc.(730-732)Ttg>Ctgp.L244L
HNSC137758185677581856+Missense_MutationSNPAACTCGA-D6-6516-01A-11D-1870-08TCGA-D6-6516-10A-01D-1870-08g.chr13:77581856A>Cc.711T>Gc.(709-711)agT>agGp.S237R
HNSC137758958377589583+SilentSNPGGATCGA-D6-A6EM-01A-21D-A31L-08TCGA-D6-A6EM-10A-01D-A31J-08g.chr13:77589583G>Ac.604C>Tc.(604-606)Ctg>Ttgp.L202L
KIPAN137758141577581415+SilentSNPAAGTCGA-AK-3460-01A-02D-1361-10TCGA-AK-3460-10A-01D-1361-10g.chr13:77581415A>Gc.1152T>Cc.(1150-1152)ggT>ggCp.G384G
KIPAN137759575277595752+Missense_MutationSNPCCGTCGA-B8-5550-01A-01D-1534-10TCGA-B8-5550-10A-01D-1535-10g.chr13:77595752C>Gc.244G>Cc.(244-246)Gaa>Caap.E82Q
KIRC137758141577581415+SilentSNPAAGTCGA-AK-3460-01A-02D-1361-10TCGA-AK-3460-10A-01D-1361-10g.chr13:77581415A>Gc.1152T>Cc.(1150-1152)ggT>ggCp.G384G
KIRC137759575277595752+Missense_MutationSNPCCGTCGA-B8-5550-01A-01D-1534-10TCGA-B8-5550-10A-01D-1535-10g.chr13:77595752C>Gc.244G>Cc.(244-246)Gaa>Caap.E82Q
LGG137758181577581815+Missense_MutationSNPCCTTCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr13:77581815C>Tc.752G>Ac.(751-753)cGa>cAap.R251Q
LGG137758181577581815+Missense_MutationSNPCCTTCGA-P5-A5EX-01A-12D-A289-08TCGA-P5-A5EX-10A-01D-A289-08g.chr13:77581815C>Tc.752G>Ac.(751-753)cGa>cAap.R251Q
LIHC137758142477581424+Missense_MutationSNPCCATCGA-BC-4073-01B-02D-A12Z-10TCGA-BC-4073-10A-01D-A12Z-10g.chr13:77581424C>Ac.1143G>Tc.(1141-1143)aaG>aaTp.K381N
LIHC137758964177589641+SilentSNPAATTCGA-NI-A4U2-01A-11D-A28X-10TCGA-NI-A4U2-10A-01D-A28X-10g.chr13:77589641A>Tc.546T>Ac.(544-546)acT>acAp.T182T
LUAD137758177777581777+Missense_MutationSNPGGATCGA-55-6969-01A-11D-1945-08TCGA-55-6969-11A-01D-1945-08g.chr13:77581777G>Ac.790C>Tc.(790-792)Cct>Tctp.P264S
LUAD137758959577589595+Missense_MutationSNPCCTTCGA-MP-A4SV-01A-11D-A24P-08TCGA-MP-A4SV-10A-01D-A24P-08g.chr13:77589595C>Tc.592G>Ac.(592-594)Gat>Aatp.D198N
LUAD137758962277589622+Missense_MutationSNPGGCTCGA-49-4486-01A-01D-1265-08TCGA-49-4486-11A-01D-1265-08g.chr13:77589622G>Cc.565C>Gc.(565-567)Ctc>Gtcp.L189V
LUAD137759570277595702+SilentSNPCCGTCGA-91-8499-01A-11D-2393-08TCGA-91-8499-10A-01D-2393-08g.chr13:77595702C>Gc.294G>Cc.(292-294)ctG>ctCp.L98L
LUSC137758128977581289+SilentSNPGGCTCGA-33-4582-01A-01D-1441-08TCGA-33-4582-11A-01D-1441-08g.chr13:77581289G>Cc.1278C>Gc.(1276-1278)ccC>ccGp.P426P
LUSC137758961377589613+SilentSNPGGATCGA-33-4532-01A-01D-1267-08TCGA-33-4532-11A-01D-1267-08g.chr13:77589613G>Ac.574C>Tc.(574-576)Cta>Ttap.L192L
PAAD137759593977595939+Missense_MutationSNPCCATCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr13:77595939C>Ac.57G>Tc.(55-57)gaG>gaTp.E19D
READ137758168777581687+Missense_MutationSNPAACTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr13:77581687A>Cc.880T>Gc.(880-882)Ttt>Gttp.F294V
READ137758965977589659+SilentSNPCCTTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr13:77589659C>Tc.528G>Ac.(526-528)tcG>tcAp.S176S
SKCM137758176077581760+SilentSNPGGATCGA-EE-A3AG-06A-31D-A196-08TCGA-EE-A3AG-10A-01D-A198-08g.chr13:77581760G>Ac.807C>Tc.(805-807)ttC>ttTp.F269F
SKCM137759598677595986+Missense_MutationSNPCCTTCGA-EE-A2MT-06A-11D-A197-08TCGA-EE-A2MT-10A-01D-A199-08g.chr13:77595986C>Tc.10G>Ac.(10-12)Gga>Agap.G4R
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-CN137758966077589660single base substitutionGAexon_variant
BLCA-CN137758966077589660single base substitutionGAmissense_variantS128L383C>T
BLCA-CN137758966077589660single base substitutionGAmissense_variantS176L527C>T
BLCA-CN137759578577595785single base substitutionGAintron_variant
BLCA-CN137759578577595785single base substitutionGAmissense_variantH71Y211C>T
BLCA-CN137759578577595785single base substitutionGAsplice_region_variant
BLCA-CN137759578577595785single base substitutionGAupstream_gene_variant
BRCA-EU137756190377561903single base substitutionGAdownstream_gene_variant
BRCA-EU137756283077562830deletion of <=200bpA-downstream_gene_variant
BRCA-EU137756292777562927single base substitutionTCdownstream_gene_variant
BRCA-EU137756302077563020single base substitutionCGdownstream_gene_variant
BRCA-EU137756464677564646single base substitutionGAdownstream_gene_variant
BRCA-EU137756563577565635single base substitutionGAdownstream_gene_variant
BRCA-EU137756570477565704single base substitutionGTdownstream_gene_variant
BRCA-EU137756620277566202single base substitutionCTdownstream_gene_variant
BRCA-EU137756672877566728single base substitutionCGdownstream_gene_variant
BRCA-EU137756692777566927deletion of <=200bpC-exon_variant
BRCA-EU137756789577567895single base substitutionGAintron_variant
BRCA-EU137756884077568840single base substitutionGCintron_variant
BRCA-EU137756942477569424deletion of <=200bpT-intron_variant
BRCA-EU137756950477569504single base substitutionCTintron_variant
BRCA-EU137757040877570408single base substitutionATintron_variant
BRCA-EU137757086177570861insertion of <=200bp-Tdownstream_gene_variant
BRCA-EU137757086177570861insertion of <=200bp-Tintron_variant
BRCA-EU137757202777572027insertion of <=200bp-Adownstream_gene_variant
BRCA-EU137757202777572027insertion of <=200bp-Aintron_variant
BRCA-EU137757203477572034deletion of <=200bpT-downstream_gene_variant
BRCA-EU137757203477572034deletion of <=200bpT-intron_variant
BRCA-EU137757213177572131single base substitutionCAdownstream_gene_variant
BRCA-EU137757213177572131single base substitutionCAintron_variant
BRCA-EU137757243777572438deletion of <=200bpAA-downstream_gene_variant
BRCA-EU137757243777572438deletion of <=200bpAA-intron_variant
BRCA-EU137757607777576077single base substitutionCTdownstream_gene_variant
BRCA-EU137757607777576077single base substitutionCTexon_variant
BRCA-EU137757607777576077single base substitutionCTintron_variant
BRCA-EU137757744277577442single base substitutionGAdownstream_gene_variant
BRCA-EU137757744277577442single base substitutionGAintron_variant
BRCA-EU137758029777580297single base substitutionAG3_prime_UTR_variant
BRCA-EU137758029777580297single base substitutionAGdownstream_gene_variant
BRCA-EU137758029777580297single base substitutionAGintron_variant
BRCA-EU137758090277580902single base substitutionGT3_prime_UTR_variant
BRCA-EU137758090277580902single base substitutionGTdownstream_gene_variant
BRCA-EU137758090277580902single base substitutionGTintron_variant
BRCA-EU137758091477580914deletion of <=200bpT-3_prime_UTR_variant
BRCA-EU137758091477580914deletion of <=200bpT-downstream_gene_variant
BRCA-EU137758091477580914deletion of <=200bpT-intron_variant
BRCA-EU137758149377581493single base substitutionGAdownstream_gene_variant
BRCA-EU137758149377581493single base substitutionGAintron_variant
BRCA-EU137758149377581493single base substitutionGAsynonymous_variantC358C1074C>T
BRCA-EU137758196277581962single base substitutionACintron_variant
BRCA-EU137758298677582986single base substitutionCGintron_variant
BRCA-EU137758302377583023single base substitutionATintron_variant
BRCA-EU137758310877583108single base substitutionCTintron_variant
BRCA-EU137758339477583394single base substitutionCTintron_variant
BRCA-EU137758357877583578single base substitutionTCintron_variant
BRCA-EU137758376177583761single base substitutionGCintron_variant
BRCA-EU137758380677583806single base substitutionCGintron_variant
BRCA-EU137758494777584947single base substitutionCTdownstream_gene_variant
BRCA-EU137758494777584947single base substitutionCTintron_variant
BRCA-EU137758588177585881single base substitutionTAdownstream_gene_variant
BRCA-EU137758588177585881single base substitutionTAintron_variant
BRCA-EU137758670577586705single base substitutionCAdownstream_gene_variant
BRCA-EU137758670577586705single base substitutionCAintron_variant
BRCA-EU137758893077588930single base substitutionCGdownstream_gene_variant
BRCA-EU137758893077588930single base substitutionCGintron_variant
BRCA-EU137758905377589053single base substitutionGAdownstream_gene_variant
BRCA-EU137758905377589053single base substitutionGAintron_variant
BRCA-EU137759072977590729single base substitutionCAintron_variant
BRCA-EU137759072977590729single base substitutionCAupstream_gene_variant
BRCA-EU137759178977591789single base substitutionCGintron_variant
BRCA-EU137759178977591789single base substitutionCGupstream_gene_variant
BRCA-EU137759825677598256deletion of <=200bpT-intron_variant
BRCA-EU137759899677598996deletion of <=200bpA-intron_variant
BRCA-EU137759987177599871single base substitutionGCintron_variant
BRCA-EU137759989677599896single base substitutionGAintron_variant
BRCA-EU137760039677600396single base substitutionAGintron_variant
BRCA-EU137760050777600507single base substitutionCGintron_variant
BRCA-EU137760055177600551single base substitutionCGintron_variant
BRCA-EU137760213177602131deletion of <=200bpA-upstream_gene_variant
BRCA-EU137760231377602313single base substitutionAGupstream_gene_variant
BRCA-EU137760242377602423deletion of <=200bpA-upstream_gene_variant
BRCA-EU137760310677603106single base substitutionTGupstream_gene_variant
BRCA-EU137760310777603107single base substitutionGAupstream_gene_variant
BRCA-FR137756190377561903single base substitutionGAdownstream_gene_variant
BRCA-FR137756506777565067single base substitutionCTdownstream_gene_variant
BRCA-FR137758670577586705single base substitutionCAdownstream_gene_variant
BRCA-FR137758670577586705single base substitutionCAintron_variant
BRCA-FR137759988177599881single base substitutionGCintron_variant
BRCA-FR137760055177600551single base substitutionCGintron_variant
BRCA-UK137759234177592341single base substitutionGCintron_variant
BRCA-UK137759234177592341single base substitutionGCupstream_gene_variant
BRCA-UK137759576777595767single base substitutionTCintron_variant
BRCA-UK137759576777595767single base substitutionTCmissense_variantR77G229A>G
BRCA-UK137759576777595767single base substitutionTCupstream_gene_variant
BRCA-US137757471277574712single base substitutionTCdownstream_gene_variant
BRCA-US137757471277574712single base substitutionTCintron_variant
BRCA-US137758159077581590single base substitutionCTdownstream_gene_variant
BRCA-US137758159077581590single base substitutionCTintron_variant
BRCA-US137758159077581590single base substitutionCTmissense_variantR326H977G>A
BRCA-US137759587977595879single base substitutionGAintron_variant
BRCA-US137759587977595879single base substitutionGAsynonymous_variantL39L117C>T
BRCA-US137759587977595879single base substitutionGAupstream_gene_variant
BRCA-US137759589577595895single base substitutionCGintron_variant
BRCA-US137759589577595895single base substitutionCGmissense_variantC34S101G>C
BRCA-US137759589577595895single base substitutionCGupstream_gene_variant
BTCA-JP137758168377581683deletion of <=200bpA-downstream_gene_variant
BTCA-JP137758168377581683deletion of <=200bpA-frameshift_variantL295
BTCA-JP137758168377581683deletion of <=200bpA-intron_variant
CESC-US137757463777574637single base substitutionGCdownstream_gene_variant
CESC-US137757463777574637single base substitutionGCintron_variant
CESC-US137758172477581724single base substitutionGAintron_variant
CESC-US137758172477581724single base substitutionGAsynonymous_variantI233I699C>T
CESC-US137758172477581724single base substitutionGAsynonymous_variantI281I843C>T
COAD-US137756632077566320single base substitutionCGdownstream_gene_variant
COAD-US137757018377570183single base substitutionCTintron_variant
COAD-US137757489677574896single base substitutionGTdownstream_gene_variant
COAD-US137757489677574896single base substitutionGTintron_variant
COAD-US137757498377574983single base substitutionAGdownstream_gene_variant
COAD-US137757498377574983single base substitutionAGintron_variant
COAD-US137757499077574990single base substitutionCAdownstream_gene_variant
COAD-US137757499077574990single base substitutionCAintron_variant
COAD-US137758150877581508single base substitutionGTdownstream_gene_variant
COAD-US137758150877581508single base substitutionGTintron_variant
COAD-US137758150877581508single base substitutionGTsynonymous_variantR353R1059C>A
COAD-US137758150977581509single base substitutionCTdownstream_gene_variant
COAD-US137758150977581509single base substitutionCTintron_variant
COAD-US137758150977581509single base substitutionCTmissense_variantR353H1058G>A
COAD-US137758159377581593single base substitutionCTdownstream_gene_variant
COAD-US137758159377581593single base substitutionCTintron_variant
COAD-US137758159377581593single base substitutionCTmissense_variantG325D974G>A
COAD-US137758168377581684deletion of <=200bpAA-downstream_gene_variant
COAD-US137758168377581684deletion of <=200bpAA-frameshift_variantL295
COAD-US137758168377581684deletion of <=200bpAA-intron_variant
COAD-US137759583077595830single base substitutionGAintron_variant
COAD-US137759583077595830single base substitutionGAmissense_variantR56W166C>T
COAD-US137759583077595830single base substitutionGAupstream_gene_variant
COCA-CN137756272477562724single base substitutionCTdownstream_gene_variant
COCA-CN137756600977566009single base substitutionCAdownstream_gene_variant
COCA-CN137757018377570183single base substitutionCTintron_variant
COCA-CN137757455677574556single base substitutionGTdownstream_gene_variant
COCA-CN137757455677574556single base substitutionGTintron_variant
COCA-CN137757457377574573single base substitutionGTdownstream_gene_variant
COCA-CN137757457377574573single base substitutionGTintron_variant
COCA-CN137757457877574578single base substitutionGTdownstream_gene_variant
COCA-CN137757457877574578single base substitutionGTintron_variant
COCA-CN137757489377574893single base substitutionACdownstream_gene_variant
COCA-CN137757489377574893single base substitutionACintron_variant
COCA-CN137758126077581260single base substitutionTC3_prime_UTR_variant
COCA-CN137758126077581260single base substitutionTCdownstream_gene_variant
COCA-CN137758126077581260single base substitutionTCintron_variant
COCA-CN137758166677581666single base substitutionCTdownstream_gene_variant
COCA-CN137758166677581666single base substitutionCTintron_variant
COCA-CN137758166677581666single base substitutionCTmissense_variantD301N901G>A
COCA-CN137759683177596831single base substitutionCTintron_variant
COCA-CN137759683177596831single base substitutionCTupstream_gene_variant
ESAD-UK137756241777562417single base substitutionCGdownstream_gene_variant
ESAD-UK137756258377562583single base substitutionAGdownstream_gene_variant
ESAD-UK137756396277563962single base substitutionAGdownstream_gene_variant
ESAD-UK137756466677564666single base substitutionCAdownstream_gene_variant
ESAD-UK137756685877566858single base substitutionGAexon_variant
ESAD-UK137756765077567650single base substitutionGTintron_variant
ESAD-UK137756791077567910single base substitutionGAintron_variant
ESAD-UK137756830777568307single base substitutionATintron_variant
ESAD-UK137756921277569212single base substitutionGAintron_variant
ESAD-UK137756932977569329single base substitutionGAintron_variant
ESAD-UK137757124377571243single base substitutionAGdownstream_gene_variant
ESAD-UK137757124377571243single base substitutionAGintron_variant
ESAD-UK137757395377573953single base substitutionGCdownstream_gene_variant
ESAD-UK137757395377573953single base substitutionGCintron_variant
ESAD-UK137757561877575618single base substitutionCTdownstream_gene_variant
ESAD-UK137757561877575618single base substitutionCTintron_variant
ESAD-UK137757563377575633single base substitutionATdownstream_gene_variant
ESAD-UK137757563377575633single base substitutionATintron_variant
ESAD-UK137757623177576231single base substitutionCTdownstream_gene_variant
ESAD-UK137757623177576231single base substitutionCTintron_variant
ESAD-UK137757663477576634single base substitutionATdownstream_gene_variant
ESAD-UK137757663477576634single base substitutionATintron_variant
ESAD-UK137758113777581137single base substitutionCT3_prime_UTR_variant
ESAD-UK137758113777581137single base substitutionCTdownstream_gene_variant
ESAD-UK137758113777581137single base substitutionCTintron_variant
ESAD-UK137758180177581801single base substitutionGAintron_variant
ESAD-UK137758180177581801single base substitutionGAmissense_variantR208C622C>T
ESAD-UK137758180177581801single base substitutionGAmissense_variantR256C766C>T
ESAD-UK137758473877584738single base substitutionGCdownstream_gene_variant
ESAD-UK137758473877584738single base substitutionGCintron_variant
ESAD-UK137758618977586189single base substitutionCGdownstream_gene_variant
ESAD-UK137758618977586189single base substitutionCGintron_variant
ESAD-UK137758788077587880single base substitutionCTdownstream_gene_variant
ESAD-UK137758788077587880single base substitutionCTintron_variant
ESAD-UK137759144077591440single base substitutionTGintron_variant
ESAD-UK137759144077591440single base substitutionTGupstream_gene_variant
ESAD-UK137759308877593088single base substitutionAGintron_variant
ESAD-UK137759308877593088single base substitutionAGupstream_gene_variant
ESAD-UK137759348777593487single base substitutionAGintron_variant
ESAD-UK137759348777593487single base substitutionAGupstream_gene_variant
ESAD-UK137759590277595902single base substitutionGAintron_variant
ESAD-UK137759590277595902single base substitutionGAstop_gainedQ32*94C>T
ESAD-UK137759590277595902single base substitutionGAupstream_gene_variant
ESAD-UK137759598977595989single base substitutionGAintron_variant
ESAD-UK137759598977595989single base substitutionGAstop_gainedR3*7C>T
ESAD-UK137759598977595989single base substitutionGAupstream_gene_variant
ESAD-UK137759729777597297single base substitutionGAintron_variant
ESAD-UK137759729777597297single base substitutionGAupstream_gene_variant
ESAD-UK137760214477602144single base substitutionGAupstream_gene_variant
ESAD-UK137760311677603116single base substitutionCTupstream_gene_variant
ESAD-UK137760391077603910single base substitutionGTupstream_gene_variant
GBM-US137757006677570066single base substitutionAGintron_variant
KIRC-US137757478577574785single base substitutionACdownstream_gene_variant
KIRC-US137757478577574785single base substitutionACintron_variant
KIRC-US137758141577581415single base substitutionAGdownstream_gene_variant
KIRC-US137758141577581415single base substitutionAGintron_variant
KIRC-US137758141577581415single base substitutionAGsynonymous_variantG384G1152T>C
KIRC-US137759575277595752single base substitutionCGintron_variant
KIRC-US137759575277595752single base substitutionCGmissense_variantE82Q244G>C
KIRC-US137759575277595752single base substitutionCGupstream_gene_variant
LGG-US137757009277570092single base substitutionCTintron_variant
LGG-US137758181577581815single base substitutionCTintron_variant
LGG-US137758181577581815single base substitutionCTmissense_variantR203Q608G>A
LGG-US137758181577581815single base substitutionCTmissense_variantR251Q752G>A
LICA-FR137756256977562569single base substitutionGTdownstream_gene_variant
LICA-FR137756622977566229single base substitutionGTdownstream_gene_variant
LICA-FR137757153077571530single base substitutionCGdownstream_gene_variant
LICA-FR137757153077571530single base substitutionCGintron_variant
LICA-FR137758080377580803single base substitutionTA3_prime_UTR_variant
LICA-FR137758080377580803single base substitutionTAdownstream_gene_variant
LICA-FR137758080377580803single base substitutionTAintron_variant
LICA-FR137758169077581690single base substitutionACdownstream_gene_variant
LICA-FR137758169077581690single base substitutionACintron_variant
LICA-FR137758169077581690single base substitutionACmissense_variantF293V877T>G
LICA-FR137760470477604704deletion of <=200bpA-upstream_gene_variant
LIHC-US137756625477566254single base substitutionGCdownstream_gene_variant
LIHC-US137756932477569324single base substitutionAGintron_variant
LIHC-US137758964177589641single base substitutionATdownstream_gene_variant
LIHC-US137758964177589641single base substitutionATexon_variant
LIHC-US137758964177589641single base substitutionATsynonymous_variantT134T402T>A
LIHC-US137758964177589641single base substitutionATsynonymous_variantT182T546T>A
LINC-JP137756615077566150single base substitutionCTdownstream_gene_variant
LINC-JP137756618677566186single base substitutionCTdownstream_gene_variant
LINC-JP137757420677574206single base substitutionAGdownstream_gene_variant
LINC-JP137757420677574206single base substitutionAGintron_variant
LINC-JP137757420777574207single base substitutionTAdownstream_gene_variant
LINC-JP137757420777574207single base substitutionTAintron_variant
LINC-JP137757688877576888single base substitutionAGdownstream_gene_variant
LINC-JP137757688877576888single base substitutionAGintron_variant
LINC-JP137758074277580742single base substitutionTC3_prime_UTR_variant
LINC-JP137758074277580742single base substitutionTCdownstream_gene_variant
LINC-JP137758074277580742single base substitutionTCintron_variant
LINC-JP137758136777581367single base substitutionGTdownstream_gene_variant
LINC-JP137758136777581367single base substitutionGTintron_variant
LINC-JP137758136777581367single base substitutionGTmissense_variantD400E1200C>A
LINC-JP137758214077582140single base substitutionTCintron_variant
LINC-JP137758971477589714single base substitutionGTexon_variant
LINC-JP137758971477589714single base substitutionGTmissense_variantS110Y329C>A
LINC-JP137758971477589714single base substitutionGTmissense_variantS158Y473C>A
LINC-JP137758971477589714single base substitutionGTsplice_region_variant
LINC-JP137759547877595478single base substitutionCAintron_variant
LINC-JP137759547877595478single base substitutionCAupstream_gene_variant
LINC-JP137759947377599473single base substitutionTCintron_variant
LIRI-JP137756310077563100single base substitutionTCdownstream_gene_variant
LIRI-JP137756360577563605single base substitutionCTdownstream_gene_variant
LIRI-JP137757011977570119insertion of <=200bp-Tintron_variant
LIRI-JP137757207477572074single base substitutionTCdownstream_gene_variant
LIRI-JP137757207477572074single base substitutionTCintron_variant
LIRI-JP137757277277572772single base substitutionACdownstream_gene_variant
LIRI-JP137757277277572772single base substitutionACintron_variant
LIRI-JP137757277377572773single base substitutionTAdownstream_gene_variant
LIRI-JP137757277377572773single base substitutionTAintron_variant
LIRI-JP137757387377573873single base substitutionCTdownstream_gene_variant
LIRI-JP137757387377573873single base substitutionCTintron_variant
LIRI-JP137757417377574173single base substitutionTCdownstream_gene_variant
LIRI-JP137757417377574173single base substitutionTCintron_variant
LIRI-JP137757500377575003single base substitutionAGdownstream_gene_variant
LIRI-JP137757500377575003single base substitutionAGintron_variant
LIRI-JP137757556777575567single base substitutionATdownstream_gene_variant
LIRI-JP137757556777575567single base substitutionATintron_variant
LIRI-JP137757557177575571single base substitutionAGdownstream_gene_variant
LIRI-JP137757557177575571single base substitutionAGintron_variant
LIRI-JP137757641977576419single base substitutionTCdownstream_gene_variant
LIRI-JP137757641977576419single base substitutionTCintron_variant
LIRI-JP137757771877577718single base substitutionGAdownstream_gene_variant
LIRI-JP137757771877577718single base substitutionGAintron_variant
LIRI-JP137757991277579912single base substitutionTC3_prime_UTR_variant
LIRI-JP137757991277579912single base substitutionTCdownstream_gene_variant
LIRI-JP137757991277579912single base substitutionTCintron_variant
LIRI-JP137757992277579922single base substitutionTC3_prime_UTR_variant
LIRI-JP137757992277579922single base substitutionTCdownstream_gene_variant
LIRI-JP137757992277579922single base substitutionTCintron_variant
LIRI-JP137758044977580449single base substitutionAC3_prime_UTR_variant
LIRI-JP137758044977580449single base substitutionACdownstream_gene_variant
LIRI-JP137758044977580449single base substitutionACintron_variant
LIRI-JP137758046777580467single base substitutionAG3_prime_UTR_variant
LIRI-JP137758046777580467single base substitutionAGdownstream_gene_variant
LIRI-JP137758046777580467single base substitutionAGintron_variant
LIRI-JP137758082977580829single base substitutionAC3_prime_UTR_variant
LIRI-JP137758082977580829single base substitutionACdownstream_gene_variant
LIRI-JP137758082977580829single base substitutionACintron_variant
LIRI-JP137758123077581230single base substitutionTG3_prime_UTR_variant
LIRI-JP137758123077581230single base substitutionTGdownstream_gene_variant
LIRI-JP137758123077581230single base substitutionTGintron_variant
LIRI-JP137758892677588926single base substitutionCTdownstream_gene_variant
LIRI-JP137758892677588926single base substitutionCTintron_variant
LIRI-JP137759125977591259single base substitutionCTintron_variant
LIRI-JP137759125977591259single base substitutionCTupstream_gene_variant
LIRI-JP137759141777591417single base substitutionACintron_variant
LIRI-JP137759141777591417single base substitutionACupstream_gene_variant
LIRI-JP137759146877591468insertion of <=200bp-Tintron_variant
LIRI-JP137759146877591468insertion of <=200bp-Tupstream_gene_variant
LIRI-JP137759206077592060single base substitutionTCintron_variant
LIRI-JP137759206077592060single base substitutionTCupstream_gene_variant
LIRI-JP137759253277592532single base substitutionTCintron_variant
LIRI-JP137759253277592532single base substitutionTCupstream_gene_variant
LIRI-JP137759377777593777single base substitutionGAintron_variant
LIRI-JP137759377777593777single base substitutionGAupstream_gene_variant
LIRI-JP137759396777593967single base substitutionCAintron_variant
LIRI-JP137759396777593967single base substitutionCAupstream_gene_variant
LIRI-JP137759450877594508insertion of <=200bp-Gintron_variant
LIRI-JP137759450877594508insertion of <=200bp-Gupstream_gene_variant
LIRI-JP137759636177596361single base substitutionTCintron_variant
LIRI-JP137759636177596361single base substitutionTCupstream_gene_variant
LIRI-JP137759719777597197single base substitutionTGintron_variant
LIRI-JP137759719777597197single base substitutionTGupstream_gene_variant
LIRI-JP137760154577601545single base substitutionAGupstream_gene_variant
LIRI-JP137760271277602712single base substitutionTAupstream_gene_variant
LIRI-JP137760512077605120single base substitutionAGupstream_gene_variant
LUSC-KR137756249277562492single base substitutionCTdownstream_gene_variant
LUSC-KR137756481077564810single base substitutionATdownstream_gene_variant
LUSC-KR137756519577565195single base substitutionATdownstream_gene_variant
LUSC-KR137756607177566071single base substitutionGCdownstream_gene_variant
LUSC-KR137756790977567909single base substitutionCGintron_variant
LUSC-KR137756994777569947single base substitutionATintron_variant
LUSC-KR137757035277570352single base substitutionTAintron_variant
LUSC-KR137757150677571506single base substitutionCGdownstream_gene_variant
LUSC-KR137757150677571506single base substitutionCGintron_variant
LUSC-KR137757454377574543single base substitutionCAdownstream_gene_variant
LUSC-KR137757454377574543single base substitutionCAintron_variant
LUSC-KR137757513777575137single base substitutionAGdownstream_gene_variant
LUSC-KR137757513777575137single base substitutionAGintron_variant
LUSC-KR137757638377576383single base substitutionGCdownstream_gene_variant
LUSC-KR137757638377576383single base substitutionGCintron_variant
LUSC-KR137757967577579675single base substitutionGA3_prime_UTR_variant
LUSC-KR137757967577579675single base substitutionGAdownstream_gene_variant
LUSC-KR137757967577579675single base substitutionGAintron_variant
LUSC-KR137757974977579749single base substitutionTC3_prime_UTR_variant
LUSC-KR137757974977579749single base substitutionTCdownstream_gene_variant
LUSC-KR137757974977579749single base substitutionTCintron_variant
LUSC-KR137759748277597482single base substitutionTAintron_variant
LUSC-KR137759748277597482single base substitutionTAupstream_gene_variant
LUSC-KR137760139477601394single base substitutionGCupstream_gene_variant
LUSC-US137756927777569277single base substitutionGTintron_variant
LUSC-US137757014677570146single base substitutionGTintron_variant
LUSC-US137757019177570191single base substitutionGTintron_variant
LUSC-US137758128977581289single base substitutionGCdownstream_gene_variant
LUSC-US137758128977581289single base substitutionGCintron_variant
LUSC-US137758128977581289single base substitutionGCsynonymous_variantP426P1278C>G
LUSC-US137758961377589613single base substitutionGAdownstream_gene_variant
LUSC-US137758961377589613single base substitutionGAexon_variant
LUSC-US137758961377589613single base substitutionGAsynonymous_variantL144L430C>T
LUSC-US137758961377589613single base substitutionGAsynonymous_variantL192L574C>T
MALY-DE137756340577563405single base substitutionGAdownstream_gene_variant
MALY-DE137757753477577534single base substitutionCTdownstream_gene_variant
MALY-DE137757753477577534single base substitutionCTintron_variant
MALY-DE137759486277594862single base substitutionGAintron_variant
MALY-DE137759486277594862single base substitutionGAupstream_gene_variant
MALY-DE137759748177597482deletion of <=200bpGT-intron_variant
MALY-DE137759748177597482deletion of <=200bpGT-upstream_gene_variant
MELA-AU137756211577562115single base substitutionGAdownstream_gene_variant
MELA-AU137756219477562194single base substitutionCTdownstream_gene_variant
MELA-AU137756293177562931single base substitutionGAdownstream_gene_variant
MELA-AU137756403077564030single base substitutionGAdownstream_gene_variant
MELA-AU137756422877564228single base substitutionGAdownstream_gene_variant
MELA-AU137756588877565888single base substitutionGAdownstream_gene_variant
MELA-AU137756636877566368single base substitutionGCdownstream_gene_variant
MELA-AU137756894577568945single base substitutionCTintron_variant
MELA-AU137756918977569189single base substitutionCTintron_variant
MELA-AU137757100277571002single base substitutionGAdownstream_gene_variant
MELA-AU137757100277571002single base substitutionGAintron_variant
MELA-AU137757102177571021single base substitutionCTdownstream_gene_variant
MELA-AU137757102177571021single base substitutionCTintron_variant
MELA-AU137757556577575565single base substitutionGAdownstream_gene_variant
MELA-AU137757556577575565single base substitutionGAintron_variant
MELA-AU137757709877577099multiple base substitution (>=2bp and <=200bp)CCTTdownstream_gene_variant
MELA-AU137757709877577099multiple base substitution (>=2bp and <=200bp)CCTTintron_variant
MELA-AU137757840977578410multiple base substitution (>=2bp and <=200bp)TGGTdownstream_gene_variant
MELA-AU137757840977578410multiple base substitution (>=2bp and <=200bp)TGGTintron_variant
MELA-AU137757856177578561single base substitutionCTdownstream_gene_variant
MELA-AU137757856177578561single base substitutionCTintron_variant
MELA-AU137758080177580801single base substitutionCT3_prime_UTR_variant
MELA-AU137758080177580801single base substitutionCTdownstream_gene_variant
MELA-AU137758080177580801single base substitutionCTintron_variant
MELA-AU137758215177582151insertion of <=200bp-Gintron_variant
MELA-AU137758355977583559deletion of <=200bpT-intron_variant
MELA-AU137758441777584417single base substitutionGAdownstream_gene_variant
MELA-AU137758441777584417single base substitutionGAintron_variant
MELA-AU137758461677584616single base substitutionGAdownstream_gene_variant
MELA-AU137758461677584616single base substitutionGAintron_variant
MELA-AU137758642177586421single base substitutionGAdownstream_gene_variant
MELA-AU137758642177586421single base substitutionGAintron_variant
MELA-AU137758810177588101single base substitutionGAdownstream_gene_variant
MELA-AU137758810177588101single base substitutionGAintron_variant
MELA-AU137758990577589905single base substitutionGAintron_variant
MELA-AU137758990577589905single base substitutionGAupstream_gene_variant
MELA-AU137759048877590488single base substitutionGAintron_variant
MELA-AU137759048877590488single base substitutionGAupstream_gene_variant
MELA-AU137759185377591853single base substitutionAGintron_variant
MELA-AU137759185377591853single base substitutionAGupstream_gene_variant
MELA-AU137759226977592269single base substitutionCTintron_variant
MELA-AU137759226977592269single base substitutionCTupstream_gene_variant
MELA-AU137759257377592573single base substitutionAGintron_variant
MELA-AU137759257377592573single base substitutionAGupstream_gene_variant
MELA-AU137759371877593718single base substitutionCTintron_variant
MELA-AU137759371877593718single base substitutionCTupstream_gene_variant
MELA-AU137759429577594295single base substitutionCAintron_variant
MELA-AU137759429577594295single base substitutionCAupstream_gene_variant
MELA-AU137759446077594460single base substitutionATintron_variant
MELA-AU137759446077594460single base substitutionATupstream_gene_variant
MELA-AU137759608177596081single base substitutionGAintron_variant
MELA-AU137759608177596081single base substitutionGAupstream_gene_variant
MELA-AU137759616977596169single base substitutionGAintron_variant
MELA-AU137759616977596169single base substitutionGAupstream_gene_variant
MELA-AU137759640777596407single base substitutionCTintron_variant
MELA-AU137759640777596407single base substitutionCTupstream_gene_variant
MELA-AU137759654977596549single base substitutionCTintron_variant
MELA-AU137759654977596549single base substitutionCTupstream_gene_variant
MELA-AU137759658577596585single base substitutionGAintron_variant
MELA-AU137759658577596585single base substitutionGAupstream_gene_variant
MELA-AU137759735877597358single base substitutionGAintron_variant
MELA-AU137759735877597358single base substitutionGAupstream_gene_variant
MELA-AU137759747877597478single base substitutionATintron_variant
MELA-AU137759747877597478single base substitutionATupstream_gene_variant
MELA-AU137759748077597480single base substitutionATintron_variant
MELA-AU137759748077597480single base substitutionATupstream_gene_variant
MELA-AU137759944477599444single base substitutionGAintron_variant
MELA-AU137760037577600375single base substitutionGAintron_variant
MELA-AU137760203977602039single base substitutionGAupstream_gene_variant
MELA-AU137760223977602239single base substitutionCTupstream_gene_variant
MELA-AU137760246077602460single base substitutionGAupstream_gene_variant
MELA-AU137760346177603461single base substitutionCTupstream_gene_variant
MELA-AU137760371477603714single base substitutionCTupstream_gene_variant
MELA-AU137760397777603977single base substitutionCTupstream_gene_variant
MELA-AU137760405277604052single base substitutionCTupstream_gene_variant
MELA-AU137760441277604412single base substitutionCTupstream_gene_variant
MELA-AU137760445977604460multiple base substitution (>=2bp and <=200bp)GGATupstream_gene_variant
MELA-AU137760495077604950single base substitutionCTupstream_gene_variant
MELA-AU137760522577605226multiple base substitution (>=2bp and <=200bp)GGAAupstream_gene_variant
MELA-AU137760559977605599single base substitutionCTupstream_gene_variant
MELA-AU137760579777605797single base substitutionCTupstream_gene_variant
MELA-AU137760633077606330single base substitutionCAupstream_gene_variant
ORCA-IN137756919977569199single base substitutionCTintron_variant
ORCA-IN137758809077588090single base substitutionATdownstream_gene_variant
ORCA-IN137758809077588090single base substitutionATintron_variant
ORCA-IN137759593477595934single base substitutionGAintron_variant
ORCA-IN137759593477595934single base substitutionGAmissense_variantS21F62C>T
ORCA-IN137759593477595934single base substitutionGAupstream_gene_variant
OV-AU137756572577565725single base substitutionGCdownstream_gene_variant
OV-AU137757090077570900single base substitutionTCdownstream_gene_variant
OV-AU137757090077570900single base substitutionTCintron_variant
OV-AU137757936777579367single base substitutionGCdownstream_gene_variant
OV-AU137757936777579367single base substitutionGCintron_variant
OV-AU137758277877582778single base substitutionCTintron_variant
OV-AU137758688377586883single base substitutionTAdownstream_gene_variant
OV-AU137758688377586883single base substitutionTAintron_variant
OV-US137757016877570168single base substitutionCTintron_variant
PACA-AU137757920177579201single base substitutionAGdownstream_gene_variant
PACA-AU137757920177579201single base substitutionAGintron_variant
PACA-AU137758427677584276single base substitutionATintron_variant
PACA-AU137758668277586682single base substitutionAGdownstream_gene_variant
PACA-AU137758668277586682single base substitutionAGintron_variant
PACA-AU137758825077588250single base substitutionGAdownstream_gene_variant
PACA-AU137758825077588250single base substitutionGAintron_variant
PACA-AU137758825177588251single base substitutionACdownstream_gene_variant
PACA-AU137758825177588251single base substitutionACintron_variant
PACA-AU137759083977590839single base substitutionTGintron_variant
PACA-AU137759083977590839single base substitutionTGupstream_gene_variant
PACA-AU137759574277595742single base substitutionTCintron_variant
PACA-AU137759574277595742single base substitutionTCmissense_variantQ85R254A>G
PACA-AU137759574277595742single base substitutionTCupstream_gene_variant
PACA-AU137759808377598083single base substitutionAGintron_variant
PACA-AU137760041877600418single base substitutionTAintron_variant
PACA-AU137760096477600964single base substitutionGCsplice_region_variant
PACA-AU137760346877603468single base substitutionGAupstream_gene_variant
PACA-AU137760391077603910single base substitutionGTupstream_gene_variant
PACA-AU137760488177604881single base substitutionAGupstream_gene_variant
PACA-CA137756559877565598single base substitutionGCdownstream_gene_variant
PACA-CA137756724677567246insertion of <=200bp-Aintron_variant
PACA-CA137757127277571272insertion of <=200bp-Tdownstream_gene_variant
PACA-CA137757127277571272insertion of <=200bp-Tintron_variant
PACA-CA137757539377575393single base substitutionCTdownstream_gene_variant
PACA-CA137757539377575393single base substitutionCTintron_variant
PACA-CA137758148877581488single base substitutionTCdownstream_gene_variant
PACA-CA137758148877581488single base substitutionTCintron_variant
PACA-CA137758148877581488single base substitutionTCmissense_variantN360S1079A>G
PACA-CA137758700377587003single base substitutionGAdownstream_gene_variant
PACA-CA137758700377587003single base substitutionGAintron_variant
PACA-CA137758700877587008single base substitutionCTdownstream_gene_variant
PACA-CA137758700877587008single base substitutionCTintron_variant
PACA-CA137758793177587931single base substitutionCTdownstream_gene_variant
PACA-CA137758793177587931single base substitutionCTintron_variant
PACA-CA137758975377589753single base substitutionTAintron_variant
PACA-CA137758975377589753single base substitutionTAupstream_gene_variant
PACA-CA137759529177595291single base substitutionTCintron_variant
PACA-CA137759529177595291single base substitutionTCupstream_gene_variant
PACA-CA137759963377599633single base substitutionGAintron_variant
PACA-CA137760396977603969single base substitutionGAupstream_gene_variant
PACA-CA137760545177605451single base substitutionCGupstream_gene_variant
PACA-CA137760551877605518single base substitutionAGupstream_gene_variant
PACA-CA137760568377605683single base substitutionGAupstream_gene_variant
PAEN-AU137758229977582299single base substitutionGCintron_variant
PAEN-IT137756238177562381single base substitutionGTdownstream_gene_variant
PAEN-IT137760172877601728single base substitutionGAupstream_gene_variant
PAEN-IT137760301977603019single base substitutionACupstream_gene_variant
PBCA-DE137757388777573887single base substitutionCAdownstream_gene_variant
PBCA-DE137757388777573887single base substitutionCAintron_variant
PBCA-DE137758180177581801single base substitutionGAintron_variant
PBCA-DE137758180177581801single base substitutionGAmissense_variantR208C622C>T
PBCA-DE137758180177581801single base substitutionGAmissense_variantR256C766C>T
PBCA-DE137758739777587397single base substitutionCTdownstream_gene_variant
PBCA-DE137758739777587397single base substitutionCTintron_variant
PBCA-DE137759748177597482deletion of <=200bpGT-intron_variant
PBCA-DE137759748177597482deletion of <=200bpGT-upstream_gene_variant
PRAD-CA137756620777566207single base substitutionGAdownstream_gene_variant
PRAD-CA137756766777567667single base substitutionTCintron_variant
PRAD-CA137759652077596520single base substitutionGAintron_variant
PRAD-CA137759652077596520single base substitutionGAupstream_gene_variant
PRAD-UK137759372277593722single base substitutionACintron_variant
PRAD-UK137759372277593722single base substitutionACupstream_gene_variant
PRAD-UK137760299477602994single base substitutionAGupstream_gene_variant
PRAD-US137757012977570129single base substitutionTGintron_variant
READ-US137756615877566158single base substitutionAGdownstream_gene_variant
RECA-EU137756361377563613single base substitutionCAdownstream_gene_variant
RECA-EU137757103977571039single base substitutionTAdownstream_gene_variant
RECA-EU137757103977571039single base substitutionTAintron_variant
RECA-EU137757734077577340single base substitutionGAdownstream_gene_variant
RECA-EU137757734077577340single base substitutionGAintron_variant
RECA-EU137757883177578831single base substitutionATdownstream_gene_variant
RECA-EU137757883177578831single base substitutionATintron_variant
RECA-EU137758925077589250single base substitutionTCdownstream_gene_variant
RECA-EU137758925077589250single base substitutionTCintron_variant
RECA-EU137759840977598409single base substitutionATintron_variant
RECA-EU137759841477598414single base substitutionAGintron_variant
SKCA-BR137756263077562630single base substitutionCGdownstream_gene_variant
SKCA-BR137756373577563735single base substitutionGAdownstream_gene_variant
SKCA-BR137756562277565622single base substitutionAGdownstream_gene_variant
SKCA-BR137756643777566437single base substitutionTGdownstream_gene_variant
SKCA-BR137756644377566443single base substitutionTGdownstream_gene_variant
SKCA-BR137757498377574983single base substitutionAGdownstream_gene_variant
SKCA-BR137757498377574983single base substitutionAGintron_variant
SKCA-BR137757551677575516single base substitutionCTdownstream_gene_variant
SKCA-BR137757551677575516single base substitutionCTintron_variant
SKCA-BR137757553077575530single base substitutionATdownstream_gene_variant
SKCA-BR137757553077575530single base substitutionATintron_variant
SKCA-BR137757553577575535single base substitutionATdownstream_gene_variant
SKCA-BR137757553577575535single base substitutionATintron_variant
SKCA-BR137757556477575564single base substitutionGTdownstream_gene_variant
SKCA-BR137757556477575564single base substitutionGTintron_variant
SKCA-BR137758274677582746single base substitutionGAintron_variant
SKCA-BR137758452877584528single base substitutionTCdownstream_gene_variant
SKCA-BR137758452877584528single base substitutionTCintron_variant
SKCA-BR137758549877585498single base substitutionTAdownstream_gene_variant
SKCA-BR137758549877585498single base substitutionTAintron_variant
SKCA-BR137758741677587416single base substitutionGAdownstream_gene_variant
SKCA-BR137758741677587416single base substitutionGAintron_variant
SKCA-BR137759255677592557deletion of <=200bpTA-intron_variant
SKCA-BR137759255677592557deletion of <=200bpTA-upstream_gene_variant
SKCA-BR137759344777593447single base substitutionTAintron_variant
SKCA-BR137759344777593447single base substitutionTAupstream_gene_variant
SKCA-BR137759350177593501single base substitutionTAintron_variant
SKCA-BR137759350177593501single base substitutionTAupstream_gene_variant
SKCA-BR137759361877593618single base substitutionGCintron_variant
SKCA-BR137759361877593618single base substitutionGCupstream_gene_variant
SKCA-BR137759432177594321single base substitutionTCintron_variant
SKCA-BR137759432177594321single base substitutionTCupstream_gene_variant
SKCA-BR137759533077595330single base substitutionACintron_variant
SKCA-BR137759533077595330single base substitutionACupstream_gene_variant
SKCA-BR137759778877597788single base substitutionGAintron_variant
SKCA-BR137759778877597788single base substitutionGAupstream_gene_variant
SKCA-BR137760085877600858single base substitutionGCintron_variant
SKCA-BR137760605377606053single base substitutionAGupstream_gene_variant
SKCM-US137757009677570096single base substitutionGAintron_variant
SKCM-US137757019577570195single base substitutionTAintron_variant
SKCM-US137757507877575078single base substitutionAGdownstream_gene_variant
SKCM-US137757507877575078single base substitutionAGintron_variant
SKCM-US137758176077581760single base substitutionGAintron_variant
SKCM-US137758176077581760single base substitutionGAsynonymous_variantF221F663C>T
SKCM-US137758176077581760single base substitutionGAsynonymous_variantF269F807C>T
SKCM-US137759598677595986single base substitutionCTintron_variant
SKCM-US137759598677595986single base substitutionCTmissense_variantG4R10G>A
SKCM-US137759598677595986single base substitutionCTupstream_gene_variant
STAD-US137757016177570161single base substitutionCTintron_variant
STAD-US137757473477574734single base substitutionTGdownstream_gene_variant
STAD-US137757473477574734single base substitutionTGintron_variant
STAD-US137758136177581386deletion of <=200bpCTTTTGGTCAGGAATTAGTACTTCTT-downstream_gene_variant
STAD-US137758136177581386deletion of <=200bpCTTTTGGTCAGGAATTAGTACTTCTT-frameshift_variantEEVLIPDQK394
STAD-US137758136177581386deletion of <=200bpCTTTTGGTCAGGAATTAGTACTTCTT-intron_variant
STAD-US137758148877581488deletion of <=200bpT-downstream_gene_variant
STAD-US137758148877581488deletion of <=200bpT-frameshift_variantN360
STAD-US137758148877581488deletion of <=200bpT-intron_variant
STAD-US137758188377581883single base substitutionTCintron_variant
STAD-US137758188377581883single base substitutionTCsynonymous_variantE180E540A>G
STAD-US137758188377581883single base substitutionTCsynonymous_variantE228E684A>G
STAD-US137758968277589682single base substitutionCTexon_variant
STAD-US137758968277589682single base substitutionCTmissense_variantV121I361G>A
STAD-US137758968277589682single base substitutionCTmissense_variantV169I505G>A
STAD-US137759281077592810single base substitutionCTexon_variant
STAD-US137759281077592810single base substitutionCTintron_variant
STAD-US137759281077592810single base substitutionCTsynonymous_variantS132S396G>A
STAD-US137759281077592810single base substitutionCTsynonymous_variantS84S252G>A
STAD-US137759281077592810single base substitutionCTupstream_gene_variant
STAD-US137759281377592813single base substitutionTCexon_variant
STAD-US137759281377592813single base substitutionTCintron_variant
STAD-US137759281377592813single base substitutionTCsynonymous_variantL131L393A>G
STAD-US137759281377592813single base substitutionTCsynonymous_variantL83L249A>G
STAD-US137759281377592813single base substitutionTCupstream_gene_variant
STAD-US137759576677595766single base substitutionCAintron_variant
STAD-US137759576677595766single base substitutionCAmissense_variantR77I230G>T
STAD-US137759576677595766single base substitutionCAupstream_gene_variant
UCEC-US137756919977569199single base substitutionCTintron_variant
UCEC-US137756920077569200single base substitutionGAintron_variant
UCEC-US137757467877574678single base substitutionCTdownstream_gene_variant
UCEC-US137757467877574678single base substitutionCTintron_variant
UCEC-US137757473977574739single base substitutionAGdownstream_gene_variant
UCEC-US137757473977574739single base substitutionAGintron_variant
UCEC-US137757479877574798single base substitutionAGdownstream_gene_variant
UCEC-US137757479877574798single base substitutionAGintron_variant
UCEC-US137757489677574896single base substitutionGTdownstream_gene_variant
UCEC-US137757489677574896single base substitutionGTintron_variant
UCEC-US137757496077574960single base substitutionTGdownstream_gene_variant
UCEC-US137757496077574960single base substitutionTGintron_variant
UCEC-US137758141077581410single base substitutionCTdownstream_gene_variant
UCEC-US137758141077581410single base substitutionCTintron_variant
UCEC-US137758141077581410single base substitutionCTmissense_variantR386H1157G>A
UCEC-US137758143877581438single base substitutionCTdownstream_gene_variant
UCEC-US137758143877581438single base substitutionCTintron_variant
UCEC-US137758143877581438single base substitutionCTmissense_variantV377I1129G>A
UCEC-US137758153477581534single base substitutionGAdownstream_gene_variant
UCEC-US137758153477581534single base substitutionGAintron_variant
UCEC-US137758153477581534single base substitutionGAmissense_variantR345W1033C>T
UCEC-US137758162777581627single base substitutionAGdownstream_gene_variant
UCEC-US137758162777581627single base substitutionAGintron_variant
UCEC-US137758162777581627single base substitutionAGmissense_variantY314H940T>C
UCEC-US137758181677581816single base substitutionGAintron_variant
UCEC-US137758181677581816single base substitutionGAstop_gainedR203*607C>T
UCEC-US137758181677581816single base substitutionGAstop_gainedR251*751C>T
UCEC-US137758191877581918single base substitutionGTintron_variant
UCEC-US137758191877581918single base substitutionGTmissense_variantL169I505C>A
UCEC-US137758191877581918single base substitutionGTmissense_variantL217I649C>A
UCEC-US137759595377595953single base substitutionCAintron_variant
UCEC-US137759595377595953single base substitutionCAstop_gainedE15*43G>T
UCEC-US137759595377595953single base substitutionCAupstream_gene_variant
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
CRC-03TCOSM5451313c.901G>Ap.D301NSubstitution - Missense13:77007531-77007531-
TCGA-BR-8361-01COSM4048409c.505G>Ap.V169ISubstitution - Missense13:77015547-77015547-
8068575COSM3772853c.254A>Gp.Q85RSubstitution - Missense13:77021607-77021607-
TCGA-AK-3460-01COSM3360141c.1152T>Cp.G384GSubstitution - coding silent13:77007280-77007280-
HCC76COSM1607221c.473C>Ap.S158YSubstitution - Missense13:77015579-77015579-
RKOCOSM1367714c.884delTp.L295fs*25Deletion - Frameshift13:77007548-77007548-
CHC909TCOSM4806210c.877T>Gp.F293VSubstitution - Missense13:77007555-77007555-
A673COSM1949637c.254A>Tp.Q85LSubstitution - Missense13:77021607-77021607-
TCGA-AA-3663-01COSM1367715c.883_884delTTp.L295fs*2Deletion - Frameshift13:77007548-77007549-
ccRCC-45COSM1661815c.1162T>Cp.S388PSubstitution - Missense13:77007270-77007270-
TCGA-CG-5721-01COSM4048408c.684A>Gp.E228ESubstitution - coding silent13:77007748-77007748-
TCGA-BS-A0UV-01COSM948486c.940T>Cp.Y314HSubstitution - Missense13:77007492-77007492-
TCGA-B0-5701-01COSM469563c.1142A>Gp.K381RSubstitution - Missense13:77007290-77007290-
KM12COSM1367714c.884delTp.L295fs*25Deletion - Frameshift13:77007548-77007548-
Pat_06_BCOSM1367714c.884delTp.L295fs*25Deletion - Frameshift13:77007548-77007548-
KM12COSM1949632c.504C>Tp.F168FSubstitution - coding silent13:77015548-77015548-
TCGA-BR-6801-01COSM4048412c.230G>Tp.R77ISubstitution - Missense13:77021631-77021631-
PD24199aCOSM5791010c.1074C>Tp.C358CSubstitution - coding silent13:77007358-77007358-
HCC2998COSM1949640c.57G>Tp.E19DSubstitution - Missense13:77021804-77021804-
SC_9047COSM5559498c.1190T>Cp.L397PSubstitution - Missense13:77007242-77007242-
TCGA-AZ-4315-01COSM1367712c.1058G>Ap.R353HSubstitution - Missense13:77007374-77007374-
S00936COSM308658c.884_885insTp.L295fs*3Insertion - Frameshift13:77007547-77007548-
5_RESISTANTCOSM1367714c.884delTp.L295fs*25Deletion - Frameshift13:77007548-77007548-
B17-TumorCOSM253720c.527C>Tp.S176LSubstitution - Missense13:77015525-77015525-
ICGC_MB63COSM3764483c.766C>Tp.R256CSubstitution - Missense13:77007666-77007666-
TCGA-NI-A4U2-01COSM4909666c.546T>Ap.T182TSubstitution - coding silent13:77015506-77015506-
TCGA-33-4582-01COSM697374c.1278C>Gp.P426PSubstitution - coding silent13:77007154-77007154-
TCGA-D1-A176-01COSM948485c.1033C>Tp.R345WSubstitution - Missense13:77007399-77007399-
BD57TCOSM1367714c.884delTp.L295fs*25Deletion - Frameshift13:77007548-77007548-
CSCC-15-TCOSM4512605c.909C>Tp.F303FSubstitution - coding silent13:77007523-77007523-
TCGA-AA-A010-01COSM281086c.749T>Cp.V250ASubstitution - Missense13:77007683-77007683-
GCT52COSM5749847c.225G>Cp.L75FSubstitution - Missense13:77021636-77021636-
pfg011TCOSM1639378c.94C>Tp.Q32*Substitution - Nonsense13:77021767-77021767-
C135COSM1367714c.884delTp.L295fs*25Deletion - Frameshift13:77007548-77007548-
T3535COSM1367714c.884delTp.L295fs*25Deletion - Frameshift13:77007548-77007548-
B80COSM1747511c.211C>Tp.H71YSubstitution - Missense13:77021650-77021650-
CHC909TCOSM4806210c.877T>Gp.F293VSubstitution - Missense13:77007555-77007555-
TCGA-E2-A1LE-01COSM3814052c.977G>Ap.R326HSubstitution - Missense13:77007455-77007455-
TCGA-BS-A0TE-01COSM948488c.649C>Ap.L217ISubstitution - Missense13:77007783-77007783-
TCGA-AZ-6598-01COSM1367716c.166C>Tp.R56WSubstitution - Missense13:77021695-77021695-
DU-145COSM1683473c.928_929insCp.T311fs*23Insertion - Frameshift13:77007503-77007504-
TCGA-BS-A0UF-01COSM948490c.43G>Tp.E15*Substitution - Nonsense13:77021818-77021818-
pfg143TCOSM1367714c.884delTp.L295fs*25Deletion - Frameshift13:77007548-77007548-
39COSM5015194c.389T>Cp.I130TSubstitution - Missense13:77018682-77018682-
TCGA-D1-A16Y-01COSM948487c.751C>Tp.R251*Substitution - Nonsense13:77007681-77007681-
2_PRE-TREATMENTCOSM1367714c.884delTp.L295fs*25Deletion - Frameshift13:77007548-77007548-
HCC49COSM1607220c.1200C>Ap.D400ESubstitution - Missense13:77007232-77007232-
TCGA-B8-5550-01COSM3360142c.244G>Cp.E82QSubstitution - Missense13:77021617-77021617-
TCGA-EE-A3AG-06COSM3885515c.807C>Tp.F269FSubstitution - coding silent13:77007625-77007625-
S02352COSM5695291c.524C>Gp.S175CSubstitution - Missense13:77015528-77015528-
587370COSM1206780c.1255G>Ap.V419MSubstitution - Missense13:77007177-77007177-
SNU-C4COSM1367714c.884delTp.L295fs*25Deletion - Frameshift13:77007548-77007548-
PCSI_0280_Pa_P_526COSM4807646c.1079A>Gp.N360SSubstitution - Missense13:77007353-77007353-
TCGA-P5-A5EX-01COSM4420673c.752G>Ap.R251QSubstitution - Missense13:77007680-77007680-
Pat_06_ACOSM1367714c.884delTp.L295fs*25Deletion - Frameshift13:77007548-77007548-
ESO-0292COSM1241165c.229A>Tp.R77*Substitution - Nonsense13:77021632-77021632-
TCGA-CG-5721-01COSM4048411c.393A>Gp.L131LSubstitution - coding silent13:77018678-77018678-
EGC15COSM174113c.528G>Ap.S176SSubstitution - coding silent13:77015524-77015524-
TCGA-AZ-4315-01COSM1367713c.974G>Ap.G325DSubstitution - Missense13:77007458-77007458-
TCGA-E2-A154-01COSM432552c.101G>Cp.C34SSubstitution - Missense13:77021760-77021760-
TCGA-D1-A103-01COSM948484c.1129G>Ap.V377ISubstitution - Missense13:77007303-77007303-
Pat_16_ACOSM1367714c.884delTp.L295fs*25Deletion - Frameshift13:77007548-77007548-
KYSE-140COSM1949638c.222C>Tp.D74DSubstitution - coding silent13:77021639-77021639-
TCGA-G4-6302-01COSM3688772c.1059C>Ap.R353RSubstitution - coding silent13:77007373-77007373-
TCGA-D1-A16N-01COSM948489c.445C>Ap.R149RSubstitution - coding silent13:77018626-77018626-
LP6005690-DNA_A02COSM3764483c.766C>Tp.R256CSubstitution - Missense13:77007666-77007666-
LS411COSM308658c.884_885insTp.L295fs*3Insertion - Frameshift13:77007547-77007548-
ccRCC-88COSM1661816c.1073G>Ap.C358YSubstitution - Missense13:77007359-77007359-
OSCC-GB_01210111COSM5954912c.62C>Tp.S21FSubstitution - Missense13:77021799-77021799-
TCGA-EW-A2FV-01COSM3814053c.117C>Tp.L39LSubstitution - coding silent13:77021744-77021744-
TCGA-BR-4184-01COSM4048410c.396G>Ap.S132SSubstitution - coding silent13:77018675-77018675-
CCK81COSM1367714c.884delTp.L295fs*25Deletion - Frameshift13:77007548-77007548-
TCGA-AK-3427-01COSM1493170c.932C>Tp.T311ISubstitution - Missense13:77007500-77007500-
587336COSM1206779c.287C>Ap.P96QSubstitution - Missense13:77021574-77021574-
B17COSM253720c.527C>Tp.S176LSubstitution - Missense13:77015525-77015525-
MO_1084COSM5547526c.218delCp.P73fs*11Deletion - Frameshift13:77021643-77021643-
LS411COSM1949636c.370G>Ap.A124TSubstitution - Missense13:77018701-77018701-
CHEWS019COSM4575998c.212A>Gp.H71RSubstitution - Missense13:77021649-77021649-
LUAD-RT-S01477COSM377455c.570A>Gp.K190KSubstitution - coding silent13:77015482-77015482-
TCGA-HU-8602-01COSM4048410c.396G>Ap.S132SSubstitution - coding silent13:77018675-77018675-
TCGA-EE-A2MT-06COSM3469677c.10G>Ap.G4RSubstitution - Missense13:77021851-77021851-
5_PRE-TREATMENTCOSM1367714c.884delTp.L295fs*25Deletion - Frameshift13:77007548-77007548-
LIM2405COSM1367714c.884delTp.L295fs*25Deletion - Frameshift13:77007548-77007548-
SNUH_G26_S1COSM1949641c.52G>Ap.A18TSubstitution - Missense13:77021809-77021809-
B80-TumorCOSM1747511c.211C>Tp.H71YSubstitution - Missense13:77021650-77021650-
587376COSM1206781c.1267G>Ap.D423NSubstitution - Missense13:77007165-77007165-
TCGA-33-4532-01COSM697373c.574C>Tp.L192LSubstitution - coding silent13:77015478-77015478-
TCGA-D1-A17Q-01COSM948483c.1157G>Ap.R386HSubstitution - Missense13:77007275-77007275-
ESO-682COSM1252242c.1216G>Ap.E406KSubstitution - Missense13:77007216-77007216-
HCC49TCOSM1607220c.1200C>Ap.D400ESubstitution - Missense13:77007232-77007232-
HCC76TCOSM1607221c.473C>Ap.S158YSubstitution - Missense13:77015579-77015579-
PD4100aCOSM161008c.229A>Gp.R77GSubstitution - Missense13:77021632-77021632-
TCGA-AA-A00N-01COSM275140c.767G>Ap.R256HSubstitution - Missense13:77007665-77007665-
LUAD-S01409COSM346386c.19G>Tp.D7YSubstitution - Missense13:77021842-77021842-
pfg068TCOSM1367714c.884delTp.L295fs*25Deletion - Frameshift13:77007548-77007548-
SH-0034COSM1367714c.884delTp.L295fs*25Deletion - Frameshift13:77007548-77007548-
TCGA-C5-A1BQ-01COSM4841699c.843C>Tp.I281ISubstitution - coding silent13:77007589-77007589-
Pat_32_ACOSM5842711c.356G>Ap.S119NSubstitution - Missense13:77018715-77018715-
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.508282;Hs.50828413q22605653
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
-AFrameshiftp.L295Ffs*3c.884dupT1377581684SCLC
A-Frameshiftp.L295Yfs*25c.884delT1377581683LUAD
AGSynonymousp.G384Gc.1152T>C1377581415RCCC
CAMissensep.R77Ic.230G>T1377595766STAD
CGMissensep.C34Sc.101G>C1377595895BRCA
CGMissensep.E82Qc.244G>C1377595752RCCC
CTMissensep.E406Kc.1216G>A1377581351ESCA
CTMissensep.G4Rc.10G>A1377595986CM
CTMissensep.S8Nc.23G>A1377595973BRCA
GAMissensep.R256Cc.766C>T1377581801MB
GAMissensep.R345Wc.1033C>T1377581534UCEC
GANonsensep.Q32*c.94C>T1377595902STAD
GANonsensep.R251*c.751C>T1377581816UCEC
GASynonymousp.F269Fc.807C>T1377581760CM
GASynonymousp.L192Lc.574C>T1377589613LUSC
GCMissensep.L189Vc.565C>G1377589622LUAD
GCSynonymousp.P426Pc.1278C>G1377581289LUSC
GTMissensep.L217Ic.649C>A1377581918UCEC
TC3-UTRSNV.c.1284+1361A>G1377579922HC
TC3-UTRSNV.c.1284+1371A>G1377579912HC
TCMissensep.R77Gc.229A>G1377595767BRCA
TG3-UTRSNV.c.1284+53A>C1377581230HC