PELI1
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA26432191964321919+Missense_MutationSNPGGATCGA-ZF-A9R7-01A-11D-A38G-08TCGA-ZF-A9R7-10A-01D-A38J-08g.chr2:64321919G>Ac.1174C>Tc.(1174-1176)Cat>Tatp.H392Y
BLCA26432192864321928+Missense_MutationSNPGGATCGA-ZF-A9R7-01A-11D-A38G-08TCGA-ZF-A9R7-10A-01D-A38J-08g.chr2:64321928G>Ac.1165C>Tc.(1165-1167)Cat>Tatp.H389Y
BLCA26432206064322060+Missense_MutationSNPGGTTCGA-ZF-A9R7-01A-11D-A38G-08TCGA-ZF-A9R7-10A-01D-A38J-08g.chr2:64322060G>Tc.1033C>Ac.(1033-1035)Ctg>Atgp.L345M
BLCA26432238164322381+Missense_MutationSNPAACTCGA-FD-A3SR-01A-11D-A22Z-08TCGA-FD-A3SR-10A-01D-A22Z-08g.chr2:64322381A>Cc.712T>Gc.(712-714)Tta>Gtap.L238V
BLCA26432342264323422+Nonsense_MutationSNPGGCTCGA-GU-A767-01A-11D-A32B-08TCGA-GU-A767-10A-01D-A329-08g.chr2:64323422G>Cc.527C>Gc.(526-528)tCa>tGap.S176*
BLCA26433543264335432+Missense_MutationSNPCCTTCGA-DK-A1A3-01A-11D-A13W-08TCGA-DK-A1A3-10A-01D-A13W-08g.chr2:64335432C>Tc.13G>Ac.(13-15)Gat>Aatp.D5N
BRCA26432193764321937+Missense_MutationSNPGGATCGA-A2-A0EY-01A-11W-A050-09TCGA-A2-A0EY-10A-01W-A055-09g.chr2:64321937G>Ac.1156C>Tc.(1156-1158)Cat>Tatp.H386Y
BRCA26432214164322141+Missense_MutationSNPGGATCGA-AO-A03M-01B-11D-A10M-09TCGA-AO-A03M-10A-01D-A10M-09g.chr2:64322141G>Ac.952C>Tc.(952-954)Cat>Tatp.H318Y
COAD26432204964322049+SilentSNPTTCTCGA-AA-3713-01A-21D-1719-10TCGA-AA-3713-11A-01D-1719-10g.chr2:64322049T>Cc.1044A>Gc.(1042-1044)ggA>ggGp.G348G
COAD26432204964322049+SilentSNPTTCTCGA-AZ-6601-01A-11D-1771-10TCGA-AZ-6601-11A-01D-1771-10g.chr2:64322049T>Cc.1044A>Gc.(1042-1044)ggA>ggGp.G348G
COAD26432219864322198+Missense_MutationSNPCCTTCGA-A6-6654-01A-21D-1835-10TCGA-A6-6654-10A-01D-1835-10g.chr2:64322198C>Tc.895G>Ac.(895-897)Gtt>Attp.V299I
COAD26432223464322234+Missense_MutationSNPTTCTCGA-AA-3833-01A-01W-0900-09TCGA-AA-3833-10A-01W-0900-09g.chr2:64322234T>Cc.859A>Gc.(859-861)Aac>Gacp.N287D
COAD26432329464323294+Missense_MutationSNPGGATCGA-AA-A00J-01A-02W-A005-10TCGA-AA-A00J-10A-01W-A005-10g.chr2:64323294G>Ac.655C>Tc.(655-657)Cgt>Tgtp.R219C
COAD26432753064327530+Splice_SiteSNPAAGTCGA-A6-5665-01A-01D-1650-10TCGA-A6-5665-10A-01D-1650-10g.chr2:64327530A>Gc.e4+1
COAD26433539164335391+SilentSNPAAGTCGA-AA-A01Q-01A-01W-A005-10TCGA-AA-A01Q-10A-01W-A005-10g.chr2:64335391A>Gc.54T>Cc.(52-54)ggT>ggCp.G18G
COADREAD26432204964322049+SilentSNPTTCTCGA-AA-3713-01A-21D-1719-10TCGA-AA-3713-11A-01D-1719-10g.chr2:64322049T>Cc.1044A>Gc.(1042-1044)ggA>ggGp.G348G
COADREAD26432204964322049+SilentSNPTTCTCGA-AZ-6601-01A-11D-1771-10TCGA-AZ-6601-11A-01D-1771-10g.chr2:64322049T>Cc.1044A>Gc.(1042-1044)ggA>ggGp.G348G
COADREAD26432219864322198+Missense_MutationSNPCCTTCGA-A6-6654-01A-21D-1835-10TCGA-A6-6654-10A-01D-1835-10g.chr2:64322198C>Tc.895G>Ac.(895-897)Gtt>Attp.V299I
COADREAD26432223464322234+Missense_MutationSNPTTCTCGA-AA-3833-01A-01W-0900-09TCGA-AA-3833-10A-01W-0900-09g.chr2:64322234T>Cc.859A>Gc.(859-861)Aac>Gacp.N287D
COADREAD26432227464322274+SilentSNPCCTTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr2:64322274C>Tc.819G>Ac.(817-819)caG>caAp.Q273Q
COADREAD26432329464323294+Missense_MutationSNPGGATCGA-AA-A00J-01A-02W-A005-10TCGA-AA-A00J-10A-01W-A005-10g.chr2:64323294G>Ac.655C>Tc.(655-657)Cgt>Tgtp.R219C
COADREAD26432753064327530+Splice_SiteSNPAAGTCGA-A6-5665-01A-01D-1650-10TCGA-A6-5665-10A-01D-1650-10g.chr2:64327530A>Gc.e4+1
COADREAD26433539164335391+SilentSNPAAGTCGA-AA-A01Q-01A-01W-A005-10TCGA-AA-A01Q-10A-01W-A005-10g.chr2:64335391A>Gc.54T>Cc.(52-54)ggT>ggCp.G18G
ESCA26432215764322157+SilentSNPGGTTCGA-VR-A8ER-01A-11D-A36J-09TCGA-VR-A8ER-10A-01D-A36M-09g.chr2:64322157G>Tc.936C>Ac.(934-936)ggC>ggAp.G312G
ESCA26432361764323617+Missense_MutationSNPTTCTCGA-L5-A8NM-01A-11D-A37C-09TCGA-L5-A8NM-11A-12D-A37F-09g.chr2:64323617T>Cc.431A>Gc.(430-432)gAa>gGap.E144G
GBM26432337864323378+Missense_MutationSNPTTCTCGA-14-0862-01B-01D-1845-08TCGA-14-0862-10C-01D-1845-08g.chr2:64323378T>Cc.571A>Gc.(571-573)Atg>Gtgp.M191V
GBMLGG26432337864323378+Missense_MutationSNPTTCTCGA-14-0862-01B-01D-1845-08TCGA-14-0862-10C-01D-1845-08g.chr2:64323378T>Cc.571A>Gc.(571-573)Atg>Gtgp.M191V
KIPAN26432333764323337+SilentSNPTTCTCGA-AS-3777-01A-01D-0966-08TCGA-AS-3777-10A-01D-0966-08g.chr2:64323337T>Cc.612A>Gc.(610-612)ggA>ggGp.G204G
KIPAN26432334764323347+Missense_MutationSNPGGATCGA-A4-8515-01A-11D-2396-08TCGA-A4-8515-10A-01D-2396-08g.chr2:64323347G>Ac.602C>Tc.(601-603)tCc>tTcp.S201F
KIRC26432333764323337+SilentSNPTTCTCGA-AS-3777-01A-01D-0966-08TCGA-AS-3777-10A-01D-0966-08g.chr2:64323337T>Cc.612A>Gc.(610-612)ggA>ggGp.G204G
KIRP26432334764323347+Missense_MutationSNPGGATCGA-A4-8515-01A-11D-2396-08TCGA-A4-8515-10A-01D-2396-08g.chr2:64323347G>Ac.602C>Tc.(601-603)tCc>tTcp.S201F
LUAD26432333764323337+SilentSNPTTCTCGA-17-Z003-01A-01W-0746-08TCGA-17-Z003-11A-01W-0746-08g.chr2:64323337T>Cc.612A>Gc.(610-612)ggA>ggGp.G204G
LUAD26432757664327576+Missense_MutationSNPCCATCGA-55-8299-01A-11D-2284-08TCGA-55-8299-10B-01D-2323-08g.chr2:64327576C>Ac.259G>Tc.(259-261)Gtg>Ttgp.V87L
LUSC26432197864321978+Missense_MutationSNPGGATCGA-37-3783-01A-01D-1267-08TCGA-37-3783-10A-01D-1267-08g.chr2:64321978G>Ac.1115C>Tc.(1114-1116)tCa>tTap.S372L
LUSC26432210264322102+Missense_MutationSNPGGATCGA-18-3409-01A-01D-0983-08TCGA-18-3409-11A-01D-0983-08g.chr2:64322102G>Ac.991C>Tc.(991-993)Cgt>Tgtp.R331C
LUSC26433186964331869+Missense_MutationSNPGGCTCGA-33-4582-01A-01D-1441-08TCGA-33-4582-11A-01D-1441-08g.chr2:64331869G>Cc.167C>Gc.(166-168)aCt>aGtp.T56S
OV26432204964322050+Missense_MutationDNPTCTCATTCGA-23-1118-01A-01W-0488-09TCGA-23-1118-10A-01W-0488-09g.chr2:64322049_64322050TC>ATc.1043_1044GA>ATc.(1042-1044)gGA>gATp.G348D
PRAD26432332064323320+Missense_MutationSNPGGATCGA-V1-A9OQ-01A-11D-A41K-08TCGA-V1-A9OQ-10A-01D-A41N-08g.chr2:64323320G>Ac.629C>Tc.(628-630)tCg>tTgp.S210L
READ26432227464322274+SilentSNPCCTTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr2:64322274C>Tc.819G>Ac.(817-819)caG>caAp.Q273Q
SKCM26432236864322368+Missense_MutationSNPGGATCGA-EE-A2GO-06A-11D-A196-08TCGA-EE-A2GO-10A-01D-A198-08g.chr2:64322368G>Ac.725C>Tc.(724-726)tCg>tTgp.S242L
SKCM26432341664323416+Missense_MutationSNPCCTTCGA-D9-A1JW-06A-11D-A19A-08TCGA-D9-A1JW-10A-01D-A19A-08g.chr2:64323416C>Tc.533G>Ac.(532-534)gGa>gAap.G178E
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-US26432238164322381single base substitutionACmissense_variantL238V712T>G
BLCA-US26433543264335432single base substitutionCTdownstream_gene_variant
BLCA-US26433543264335432single base substitutionCTexon_variant
BLCA-US26433543264335432single base substitutionCTmissense_variantD5N13G>A
BOCA-FR26433371964333719single base substitutionCAdownstream_gene_variant
BOCA-FR26433371964333719single base substitutionCAintron_variant
BRCA-EU26431604564316045single base substitutionGAdownstream_gene_variant
BRCA-EU26431815864318158single base substitutionTAdownstream_gene_variant
BRCA-EU26431815964318159single base substitutionCTdownstream_gene_variant
BRCA-EU26431825464318254single base substitutionAGdownstream_gene_variant
BRCA-EU26432112364321123single base substitutionCT3_prime_UTR_variant
BRCA-EU26432177164321771single base substitutionAG3_prime_UTR_variant
BRCA-EU26432256864322568single base substitutionCGdownstream_gene_variant
BRCA-EU26432256864322568single base substitutionCGintron_variant
BRCA-EU26432258264322582single base substitutionCAdownstream_gene_variant
BRCA-EU26432258264322582single base substitutionCAintron_variant
BRCA-EU26432268964322689single base substitutionGCdownstream_gene_variant
BRCA-EU26432268964322689single base substitutionGCintron_variant
BRCA-EU26432296664322966single base substitutionAGdownstream_gene_variant
BRCA-EU26432296664322966single base substitutionAGintron_variant
BRCA-EU26432317064323170single base substitutionGCdownstream_gene_variant
BRCA-EU26432317064323170single base substitutionGCintron_variant
BRCA-EU26432692764326927single base substitutionGAdownstream_gene_variant
BRCA-EU26432692764326927single base substitutionGAintron_variant
BRCA-EU26432782264327822single base substitutionGAintron_variant
BRCA-EU26432786964327869deletion of <=200bpT-intron_variant
BRCA-EU26432801064328010single base substitutionGAintron_variant
BRCA-EU26432846464328464single base substitutionATdownstream_gene_variant
BRCA-EU26432846464328464single base substitutionATintron_variant
BRCA-EU26432899264328992single base substitutionCTdownstream_gene_variant
BRCA-EU26432899264328992single base substitutionCTintron_variant
BRCA-EU26433058564330585single base substitutionGAdownstream_gene_variant
BRCA-EU26433058564330585single base substitutionGAintron_variant
BRCA-EU26433150264331502single base substitutionGTdownstream_gene_variant
BRCA-EU26433150264331502single base substitutionGTintron_variant
BRCA-EU26433157164331571single base substitutionCTdownstream_gene_variant
BRCA-EU26433157164331571single base substitutionCTintron_variant
BRCA-EU26433159464331594single base substitutionGCdownstream_gene_variant
BRCA-EU26433159464331594single base substitutionGCintron_variant
BRCA-EU26433165364331653single base substitutionCTdownstream_gene_variant
BRCA-EU26433165364331653single base substitutionCTintron_variant
BRCA-EU26433221164332211single base substitutionTCdownstream_gene_variant
BRCA-EU26433221164332211single base substitutionTCintron_variant
BRCA-EU26433287564332875single base substitutionCAdownstream_gene_variant
BRCA-EU26433287564332875single base substitutionCAintron_variant
BRCA-EU26433343164333431single base substitutionCGdownstream_gene_variant
BRCA-EU26433343164333431single base substitutionCGintron_variant
BRCA-EU26433343164333431single base substitutionCGsplice_region_variant
BRCA-EU26433650464336504single base substitutionGTintron_variant
BRCA-EU26433716364337163single base substitutionGCintron_variant
BRCA-EU26433753364337533single base substitutionCTintron_variant
BRCA-EU26433769564337695insertion of <=200bp-Aintron_variant
BRCA-EU26433778964337789deletion of <=200bpG-intron_variant
BRCA-EU26433795364337953single base substitutionCAintron_variant
BRCA-EU26433864264338642single base substitutionCTintron_variant
BRCA-EU26433979064339790single base substitutionCGintron_variant
BRCA-EU26434106164341061single base substitutionGTintron_variant
BRCA-EU26434357764343577single base substitutionGTintron_variant
BRCA-EU26434416464344164single base substitutionTCintron_variant
BRCA-EU26434503464345034single base substitutionCTintron_variant
BRCA-EU26434535064345350single base substitutionACintron_variant
BRCA-EU26434537264345372single base substitutionCTintron_variant
BRCA-EU26434601664346016single base substitutionACintron_variant
BRCA-EU26434612364346123single base substitutionTCintron_variant
BRCA-EU26434713964347139single base substitutionCTintron_variant
BRCA-EU26434733764347337single base substitutionTGintron_variant
BRCA-EU26434876464348764single base substitutionGAintron_variant
BRCA-EU26434899164348991single base substitutionATintron_variant
BRCA-EU26434905764349057single base substitutionGCintron_variant
BRCA-EU26434982864349828single base substitutionCGintron_variant
BRCA-EU26435063764350637single base substitutionGTintron_variant
BRCA-EU26435117964351179single base substitutionCTintron_variant
BRCA-EU26435249064352490single base substitutionGTintron_variant
BRCA-EU26435262564352625single base substitutionTAintron_variant
BRCA-EU26435330864353308insertion of <=200bp-Tintron_variant
BRCA-EU26435349464353494single base substitutionCTintron_variant
BRCA-EU26435418164354181single base substitutionCTintron_variant
BRCA-EU26435589664355896single base substitutionGAintron_variant
BRCA-EU26435646364356463deletion of <=200bpA-intron_variant
BRCA-EU26435650164356501single base substitutionACintron_variant
BRCA-EU26435687864356878single base substitutionGCintron_variant
BRCA-EU26435915964359159single base substitutionCGintron_variant
BRCA-EU26435949764359497single base substitutionCTintron_variant
BRCA-EU26436046264360462single base substitutionGCintron_variant
BRCA-EU26436056264360562single base substitutionGAintron_variant
BRCA-EU26436104764361047single base substitutionACintron_variant
BRCA-EU26436114664361147deletion of <=200bpAG-intron_variant
BRCA-EU26436116664361166single base substitutionCGintron_variant
BRCA-EU26436154864361548single base substitutionCGintron_variant
BRCA-EU26436321464363214single base substitutionTCintron_variant
BRCA-EU26436382164363821single base substitutionGAintron_variant
BRCA-EU26436412164364121single base substitutionAGintron_variant
BRCA-EU26436464464364644single base substitutionGTintron_variant
BRCA-EU26436521664365216single base substitutionCTintron_variant
BRCA-EU26436626564366265single base substitutionAGintron_variant
BRCA-EU26436659064366592deletion of <=200bpATT-intron_variant
BRCA-EU26436735764367357single base substitutionGCintron_variant
BRCA-EU26436779764367797single base substitutionCTintron_variant
BRCA-EU26436799364367993single base substitutionAGintron_variant
BRCA-EU26436837864368378single base substitutionTCintron_variant
BRCA-EU26437180664371806single base substitutionCGupstream_gene_variant
BRCA-EU26437386064373861deletion of <=200bpTG-upstream_gene_variant
BRCA-EU26437388664373886single base substitutionTCupstream_gene_variant
BRCA-EU26437511964375119single base substitutionGAupstream_gene_variant
BRCA-EU26437515964375159single base substitutionCTupstream_gene_variant
BRCA-EU26437588464375884single base substitutionGAupstream_gene_variant
BRCA-EU26437599564375995single base substitutionGCupstream_gene_variant
BRCA-FR26431702864317028single base substitutionCTdownstream_gene_variant
BRCA-FR26431703064317030single base substitutionCTdownstream_gene_variant
BRCA-FR26432256864322568single base substitutionCGdownstream_gene_variant
BRCA-FR26432256864322568single base substitutionCGintron_variant
BRCA-FR26432258264322582single base substitutionCAdownstream_gene_variant
BRCA-FR26432258264322582single base substitutionCAintron_variant
BRCA-FR26432317064323170single base substitutionGCdownstream_gene_variant
BRCA-FR26432317064323170single base substitutionGCintron_variant
BRCA-FR26433159464331594single base substitutionGCdownstream_gene_variant
BRCA-FR26433159464331594single base substitutionGCintron_variant
BRCA-FR26433650464336504single base substitutionGTintron_variant
BRCA-FR26434612364346123single base substitutionTCintron_variant
BRCA-FR26434899164348991single base substitutionATintron_variant
BRCA-FR26434982864349828single base substitutionCGintron_variant
BRCA-FR26436116664361166single base substitutionCGintron_variant
BRCA-UK26435923964359239single base substitutionCGintron_variant
BRCA-US26432193764321937single base substitutionGAmissense_variantH386Y1156C>T
BRCA-US26432214164322141single base substitutionGAmissense_variantH318Y952C>T
CLLE-ES26436811564368115single base substitutionAGintron_variant
CLLE-ES26436814964368149single base substitutionAGintron_variant
CLLE-ES26436822264368222single base substitutionATintron_variant
CLLE-ES26437223764372237single base substitutionAGupstream_gene_variant
COAD-US26432219864322198single base substitutionCTmissense_variantV299I895G>A
COAD-US26432753064327530single base substitutionAGdownstream_gene_variant
COAD-US26432753064327530single base substitutionAGsplice_donor_variant
COAD-US26432759264327592single base substitutionTCexon_variant
COAD-US26432759264327592single base substitutionTCsynonymous_variantL81L243A>G
COCA-CN26432352464323524single base substitutionCAdownstream_gene_variant
COCA-CN26432352464323524single base substitutionCAintron_variant
COCA-CN26432749564327495single base substitutionCTdownstream_gene_variant
COCA-CN26432749564327495single base substitutionCTintron_variant
COCA-CN26433549064335490single base substitutionTG5_prime_UTR_variant
COCA-CN26433549064335490single base substitutionTGexon_variant
COCA-CN26433557064335570single base substitutionGTintron_variant
ESAD-UK26431685164316851single base substitutionCTdownstream_gene_variant
ESAD-UK26431853864318538single base substitutionCTdownstream_gene_variant
ESAD-UK26431950864319508single base substitutionGCdownstream_gene_variant
ESAD-UK26432112764321127single base substitutionCA3_prime_UTR_variant
ESAD-UK26432292664322926single base substitutionCTdownstream_gene_variant
ESAD-UK26432292664322926single base substitutionCTintron_variant
ESAD-UK26432308364323083single base substitutionCTdownstream_gene_variant
ESAD-UK26432308364323083single base substitutionCTintron_variant
ESAD-UK26432607564326075single base substitutionCTdownstream_gene_variant
ESAD-UK26432607564326075single base substitutionCTintron_variant
ESAD-UK26432646464326464single base substitutionATdownstream_gene_variant
ESAD-UK26432646464326464single base substitutionATintron_variant
ESAD-UK26433044664330446single base substitutionAGdownstream_gene_variant
ESAD-UK26433044664330446single base substitutionAGintron_variant
ESAD-UK26433187464331874single base substitutionGAdownstream_gene_variant
ESAD-UK26433187464331874single base substitutionGAexon_variant
ESAD-UK26433187464331874single base substitutionGAsynonymous_variantP54P162C>T
ESAD-UK26433307864333078single base substitutionACdownstream_gene_variant
ESAD-UK26433307864333078single base substitutionACintron_variant
ESAD-UK26433320764333207single base substitutionCTdownstream_gene_variant
ESAD-UK26433320764333207single base substitutionCTintron_variant
ESAD-UK26433375664333756single base substitutionCTdownstream_gene_variant
ESAD-UK26433375664333756single base substitutionCTintron_variant
ESAD-UK26434077064340770single base substitutionATintron_variant
ESAD-UK26434127064341270deletion of <=200bpT-intron_variant
ESAD-UK26434147564341475single base substitutionGCintron_variant
ESAD-UK26434818964348189single base substitutionTGintron_variant
ESAD-UK26434884364348843single base substitutionCTintron_variant
ESAD-UK26434898864348988single base substitutionGAintron_variant
ESAD-UK26436124464361244single base substitutionAGintron_variant
ESAD-UK26436494164364941single base substitutionGTintron_variant
ESAD-UK26436943764369437single base substitutionATintron_variant
ESAD-UK26437011264370112single base substitutionGAintron_variant
ESAD-UK26437168164371681single base substitutionGTupstream_gene_variant
ESAD-UK26437177964371779single base substitutionCTupstream_gene_variant
ESAD-UK26437387064373870single base substitutionCGupstream_gene_variant
ESAD-UK26437425364374253single base substitutionCTupstream_gene_variant
ESAD-UK26437533964375339single base substitutionAGupstream_gene_variant
ESCA-CN26432361364323613single base substitutionCAdownstream_gene_variant
ESCA-CN26432361364323613single base substitutionCAsynonymous_variantR145R435G>T
ESCA-CN26433193964331939single base substitutionCTdownstream_gene_variant
ESCA-CN26433193964331939single base substitutionCTexon_variant
ESCA-CN26433193964331939single base substitutionCTmissense_variantD33N97G>A
GBM-US26432337864323378single base substitutionTCdownstream_gene_variant
GBM-US26432337864323378single base substitutionTCmissense_variantM191V571A>G
KIRP-US26432334764323347single base substitutionGAdownstream_gene_variant
KIRP-US26432334764323347single base substitutionGAmissense_variantS201F602C>T
LIAD-FR26432338164323381single base substitutionCAdownstream_gene_variant
LIAD-FR26432338164323381single base substitutionCAmissense_variantV190L568G>T
LICA-FR26433112764331127single base substitutionGAdownstream_gene_variant
LICA-FR26433112764331127single base substitutionGAintron_variant
LICA-FR26436642964366432deletion of <=200bpTTTA-intron_variant
LINC-JP26431607864316078single base substitutionCTdownstream_gene_variant
LINC-JP26432323764323237single base substitutionGTdownstream_gene_variant
LINC-JP26432323764323237single base substitutionGTintron_variant
LINC-JP26432350364323503single base substitutionATdownstream_gene_variant
LINC-JP26432350364323503single base substitutionATintron_variant
LINC-JP26433181664331816deletion of <=200bpT-downstream_gene_variant
LINC-JP26433181664331816deletion of <=200bpT-intron_variant
LINC-JP26433547364335473single base substitutionTC5_prime_UTR_variant
LINC-JP26433547364335473single base substitutionTCdownstream_gene_variant
LINC-JP26433547364335473single base substitutionTCexon_variant
LINC-JP26435442364354423single base substitutionACintron_variant
LIRI-JP26431853564318535single base substitutionCTdownstream_gene_variant
LIRI-JP26431865764318657single base substitutionGCdownstream_gene_variant
LIRI-JP26432063464320634single base substitutionTA3_prime_UTR_variant
LIRI-JP26432105664321056single base substitutionGC3_prime_UTR_variant
LIRI-JP26432465864324658single base substitutionTCdownstream_gene_variant
LIRI-JP26432465864324658single base substitutionTCintron_variant
LIRI-JP26432634364326344deletion of <=200bpTT-downstream_gene_variant
LIRI-JP26432634364326344deletion of <=200bpTT-intron_variant
LIRI-JP26432673164326731single base substitutionAGdownstream_gene_variant
LIRI-JP26432673164326731single base substitutionAGintron_variant
LIRI-JP26432742664327426single base substitutionAGdownstream_gene_variant
LIRI-JP26432742664327426single base substitutionAGintron_variant
LIRI-JP26433218464332184single base substitutionACdownstream_gene_variant
LIRI-JP26433218464332184single base substitutionACintron_variant
LIRI-JP26433254264332542single base substitutionTCdownstream_gene_variant
LIRI-JP26433254264332542single base substitutionTCintron_variant
LIRI-JP26433340764333407single base substitutionAGdownstream_gene_variant
LIRI-JP26433340764333407single base substitutionAGexon_variant
LIRI-JP26433340764333407single base substitutionAGintron_variant
LIRI-JP26433451364334513single base substitutionCGdownstream_gene_variant
LIRI-JP26433451364334513single base substitutionCGintron_variant
LIRI-JP26433867864338678single base substitutionAGintron_variant
LIRI-JP26434464464344645deletion of <=200bpTC-intron_variant
LIRI-JP26434513164345131single base substitutionGAintron_variant
LIRI-JP26434631164346311single base substitutionTCintron_variant
LIRI-JP26434713364347133single base substitutionTAintron_variant
LIRI-JP26435153864351538single base substitutionAGintron_variant
LIRI-JP26435412664354126single base substitutionGTintron_variant
LIRI-JP26435419864354198single base substitutionACintron_variant
LIRI-JP26435870664358706single base substitutionCTintron_variant
LIRI-JP26435998964359989single base substitutionGTintron_variant
LIRI-JP26436151764361517insertion of <=200bp-Aintron_variant
LIRI-JP26436455164364551single base substitutionTCintron_variant
LIRI-JP26436459464364594single base substitutionTCintron_variant
LIRI-JP26436522364365223single base substitutionCTintron_variant
LIRI-JP26436593964365939single base substitutionCTintron_variant
LIRI-JP26436695864366958single base substitutionAGintron_variant
LIRI-JP26436698364366983single base substitutionCTintron_variant
LIRI-JP26436737964367379single base substitutionACintron_variant
LIRI-JP26436739464367394single base substitutionTGintron_variant
LIRI-JP26436844464368444deletion of <=200bpA-intron_variant
LIRI-JP26436949464369494single base substitutionTCintron_variant
LIRI-JP26437183964371839single base substitutionGTupstream_gene_variant
LIRI-JP26437373064373730single base substitutionTCupstream_gene_variant
LIRI-JP26437465764374657single base substitutionAGupstream_gene_variant
LUSC-KR26431641464316414single base substitutionTCdownstream_gene_variant
LUSC-KR26431904264319042single base substitutionCTdownstream_gene_variant
LUSC-KR26431962964319629single base substitutionTAdownstream_gene_variant
LUSC-KR26432074664320746single base substitutionGA3_prime_UTR_variant
LUSC-KR26432121664321216single base substitutionGA3_prime_UTR_variant
LUSC-KR26433016164330161single base substitutionGAdownstream_gene_variant
LUSC-KR26433016164330161single base substitutionGAintron_variant
LUSC-KR26433066964330669single base substitutionTGdownstream_gene_variant
LUSC-KR26433066964330669single base substitutionTGintron_variant
LUSC-KR26433945464339454single base substitutionGTintron_variant
LUSC-KR26434517864345178single base substitutionCTintron_variant
LUSC-KR26434612664346126single base substitutionATintron_variant
LUSC-KR26434883764348837single base substitutionCAintron_variant
LUSC-KR26435643864356438single base substitutionCAintron_variant
LUSC-KR26436504664365046single base substitutionTCintron_variant
LUSC-KR26436536064365360single base substitutionTCintron_variant
LUSC-KR26436801764368017single base substitutionCAintron_variant
LUSC-KR26437419764374197single base substitutionGAupstream_gene_variant
LUSC-US26432197864321978single base substitutionGAmissense_variantS372L1115C>T
LUSC-US26432210264322102single base substitutionGAmissense_variantR331C991C>T
LUSC-US26433186964331869single base substitutionGCdownstream_gene_variant
LUSC-US26433186964331869single base substitutionGCexon_variant
LUSC-US26433186964331869single base substitutionGCmissense_variantT56S167C>G
MALY-DE26431590664315906single base substitutionGAdownstream_gene_variant
MALY-DE26431711964317119single base substitutionGCdownstream_gene_variant
MALY-DE26431732164317321single base substitutionCGdownstream_gene_variant
MALY-DE26431929664319296single base substitutionTAdownstream_gene_variant
MALY-DE26431934164319341single base substitutionTCdownstream_gene_variant
MALY-DE26431960564319605single base substitutionTCdownstream_gene_variant
MALY-DE26432360264323602single base substitutionACdownstream_gene_variant
MALY-DE26432360264323602single base substitutionACmissense_variantF149C446T>G
MALY-DE26432458764324587single base substitutionCTdownstream_gene_variant
MALY-DE26432458764324587single base substitutionCTintron_variant
MALY-DE26432865764328657single base substitutionCAdownstream_gene_variant
MALY-DE26432865764328657single base substitutionCAintron_variant
MALY-DE26433394064333940single base substitutionCTdownstream_gene_variant
MALY-DE26433394064333940single base substitutionCTintron_variant
MALY-DE26433934664339346single base substitutionTCintron_variant
MALY-DE26434029964340303deletion of <=200bpCATGG-intron_variant
MALY-DE26434283064342830single base substitutionAGintron_variant
MALY-DE26434465664344656single base substitutionTCintron_variant
MALY-DE26434815764348157single base substitutionCGintron_variant
MALY-DE26434919464349194single base substitutionTCintron_variant
MALY-DE26435634464356344single base substitutionCTintron_variant
MALY-DE26435944664359446single base substitutionTCintron_variant
MALY-DE26436042164360421single base substitutionACintron_variant
MALY-DE26436266564362665single base substitutionAGintron_variant
MALY-DE26436480064364800single base substitutionCTintron_variant
MALY-DE26437107164371071single base substitutionCGintron_variant
MALY-DE26437140964371409single base substitutionGA5_prime_UTR_premature_start_codon_gain_variant
MALY-DE26437140964371409single base substitutionGAexon_variant
MALY-DE26437148364371483single base substitutionCG5_prime_UTR_variant
MALY-DE26437148364371483single base substitutionCGexon_variant
MALY-DE26437152464371524single base substitutionTC5_prime_UTR_variant
MALY-DE26437152464371524single base substitutionTCexon_variant
MALY-DE26437152464371524single base substitutionTCupstream_gene_variant
MELA-AU26431563864315638single base substitutionAGdownstream_gene_variant
MELA-AU26431567064315670single base substitutionGAdownstream_gene_variant
MELA-AU26431599664315996single base substitutionTCdownstream_gene_variant
MELA-AU26431601364316013single base substitutionCTdownstream_gene_variant
MELA-AU26431607564316075single base substitutionGAdownstream_gene_variant
MELA-AU26431656264316562single base substitutionGAdownstream_gene_variant
MELA-AU26431680064316800single base substitutionGAdownstream_gene_variant
MELA-AU26431691364316913single base substitutionATdownstream_gene_variant
MELA-AU26431726664317266single base substitutionATdownstream_gene_variant
MELA-AU26431759764317597single base substitutionCTdownstream_gene_variant
MELA-AU26431809864318098single base substitutionGAdownstream_gene_variant
MELA-AU26431811364318113single base substitutionGAdownstream_gene_variant
MELA-AU26431852064318520single base substitutionGAdownstream_gene_variant
MELA-AU26431857764318577single base substitutionGAdownstream_gene_variant
MELA-AU26431873764318737single base substitutionGAdownstream_gene_variant
MELA-AU26431933564319335single base substitutionGAdownstream_gene_variant
MELA-AU26432041864320418single base substitutionCT3_prime_UTR_variant
MELA-AU26432045864320458single base substitutionGA3_prime_UTR_variant
MELA-AU26432058264320582single base substitutionGA3_prime_UTR_variant
MELA-AU26432093764320937single base substitutionGA3_prime_UTR_variant
MELA-AU26432107764321077single base substitutionGA3_prime_UTR_variant
MELA-AU26432127264321272single base substitutionGA3_prime_UTR_variant
MELA-AU26432177764321777single base substitutionGA3_prime_UTR_variant
MELA-AU26432195464321954single base substitutionGAmissense_variantS380F1139C>T
MELA-AU26432238164322381single base substitutionATmissense_variantL238I712T>A
MELA-AU26432271264322712single base substitutionGAdownstream_gene_variant
MELA-AU26432271264322712single base substitutionGAintron_variant
MELA-AU26432282764322827single base substitutionGAdownstream_gene_variant
MELA-AU26432282764322827single base substitutionGAintron_variant
MELA-AU26432304664323047multiple base substitution (>=2bp and <=200bp)GGAAdownstream_gene_variant
MELA-AU26432304664323047multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU26432308464323084single base substitutionGAdownstream_gene_variant
MELA-AU26432308464323084single base substitutionGAintron_variant
MELA-AU26432353964323539single base substitutionCGdownstream_gene_variant
MELA-AU26432353964323539single base substitutionCGsplice_region_variant
MELA-AU26432379364323793single base substitutionGAdownstream_gene_variant
MELA-AU26432379364323793single base substitutionGAintron_variant
MELA-AU26432467664324676single base substitutionCTdownstream_gene_variant
MELA-AU26432467664324676single base substitutionCTintron_variant
MELA-AU26432604264326042single base substitutionGAdownstream_gene_variant
MELA-AU26432604264326042single base substitutionGAintron_variant
MELA-AU26432633764326337single base substitutionTCdownstream_gene_variant
MELA-AU26432633764326337single base substitutionTCintron_variant
MELA-AU26432690364326903single base substitutionGAdownstream_gene_variant
MELA-AU26432690364326903single base substitutionGAintron_variant
MELA-AU26432692264326922single base substitutionGAdownstream_gene_variant
MELA-AU26432692264326922single base substitutionGAintron_variant
MELA-AU26432704264327042single base substitutionGAdownstream_gene_variant
MELA-AU26432704264327042single base substitutionGAintron_variant
MELA-AU26432727964327279single base substitutionCAdownstream_gene_variant
MELA-AU26432727964327279single base substitutionCAintron_variant
MELA-AU26432844464328444single base substitutionGAdownstream_gene_variant
MELA-AU26432844464328444single base substitutionGAintron_variant
MELA-AU26432864364328643single base substitutionGAdownstream_gene_variant
MELA-AU26432864364328643single base substitutionGAintron_variant
MELA-AU26432951464329514single base substitutionGAdownstream_gene_variant
MELA-AU26432951464329514single base substitutionGAintron_variant
MELA-AU26432991064329910single base substitutionTCdownstream_gene_variant
MELA-AU26432991064329910single base substitutionTCintron_variant
MELA-AU26433037764330377single base substitutionGAdownstream_gene_variant
MELA-AU26433037764330377single base substitutionGAintron_variant
MELA-AU26433085764330857single base substitutionAGdownstream_gene_variant
MELA-AU26433085764330857single base substitutionAGintron_variant
MELA-AU26433114164331141single base substitutionGAdownstream_gene_variant
MELA-AU26433114164331141single base substitutionGAintron_variant
MELA-AU26433213764332137single base substitutionGAdownstream_gene_variant
MELA-AU26433213764332137single base substitutionGAintron_variant
MELA-AU26433242264332422single base substitutionGTdownstream_gene_variant
MELA-AU26433242264332422single base substitutionGTintron_variant
MELA-AU26433287564332875single base substitutionCTdownstream_gene_variant
MELA-AU26433287564332875single base substitutionCTintron_variant
MELA-AU26433353164333531single base substitutionGAdownstream_gene_variant
MELA-AU26433353164333531single base substitutionGAintron_variant
MELA-AU26433380164333801single base substitutionGAdownstream_gene_variant
MELA-AU26433380164333801single base substitutionGAintron_variant
MELA-AU26433459264334592single base substitutionTAdownstream_gene_variant
MELA-AU26433459264334592single base substitutionTAintron_variant
MELA-AU26433471264334712single base substitutionGAdownstream_gene_variant
MELA-AU26433471264334712single base substitutionGAintron_variant
MELA-AU26433530864335308single base substitutionTCdownstream_gene_variant
MELA-AU26433530864335308single base substitutionTCintron_variant
MELA-AU26433631364336313single base substitutionAGintron_variant
MELA-AU26433633764336337single base substitutionGAintron_variant
MELA-AU26433701264337012single base substitutionGCintron_variant
MELA-AU26433707664337076single base substitutionGCintron_variant
MELA-AU26433766264337662single base substitutionAGintron_variant
MELA-AU26433843864338438single base substitutionGAintron_variant
MELA-AU26434199464341994single base substitutionATintron_variant
MELA-AU26434203764342037single base substitutionTCintron_variant
MELA-AU26434232064342320single base substitutionGAintron_variant
MELA-AU26434390564343905single base substitutionCTintron_variant
MELA-AU26434402064344020single base substitutionATintron_variant
MELA-AU26434493164344931single base substitutionACintron_variant
MELA-AU26434562764345627single base substitutionATintron_variant
MELA-AU26434881664348816single base substitutionGAintron_variant
MELA-AU26434892164348921single base substitutionCAintron_variant
MELA-AU26434898764348987single base substitutionCAintron_variant
MELA-AU26434940564349405single base substitutionGAintron_variant
MELA-AU26435001364350013single base substitutionGAintron_variant
MELA-AU26435045164350451single base substitutionGAintron_variant
MELA-AU26435071164350711single base substitutionGAintron_variant
MELA-AU26435085264350852single base substitutionTGintron_variant
MELA-AU26435112764351127single base substitutionGAintron_variant
MELA-AU26435129864351298single base substitutionGAintron_variant
MELA-AU26435153664351536single base substitutionGAintron_variant
MELA-AU26435154864351548single base substitutionGAintron_variant
MELA-AU26435255664352556single base substitutionGAintron_variant
MELA-AU26435311064353110single base substitutionCTintron_variant
MELA-AU26435315264353152single base substitutionGAintron_variant
MELA-AU26435317164353171single base substitutionGAintron_variant
MELA-AU26435352764353527single base substitutionACintron_variant
MELA-AU26435397464353974single base substitutionCTintron_variant
MELA-AU26435490464354904single base substitutionCTintron_variant
MELA-AU26435524364355243single base substitutionCGintron_variant
MELA-AU26435543764355437single base substitutionGAintron_variant
MELA-AU26435778464357784single base substitutionGAintron_variant
MELA-AU26435784364357843single base substitutionACintron_variant
MELA-AU26435816864358168single base substitutionAGintron_variant
MELA-AU26435833364358333single base substitutionGAintron_variant
MELA-AU26435921764359217single base substitutionGAintron_variant
MELA-AU26435985564359855single base substitutionGAintron_variant
MELA-AU26436073864360738single base substitutionGAintron_variant
MELA-AU26436211964362119single base substitutionTAintron_variant
MELA-AU26436256664362566single base substitutionGAintron_variant
MELA-AU26436296464362964single base substitutionGAintron_variant
MELA-AU26436439064364390single base substitutionGTintron_variant
MELA-AU26436541564365415single base substitutionCTintron_variant
MELA-AU26436666764366667single base substitutionGAintron_variant
MELA-AU26436808264368082single base substitutionATintron_variant
MELA-AU26436842264368422single base substitutionGAintron_variant
MELA-AU26436957364369575deletion of <=200bpATT-intron_variant
MELA-AU26436964964369649single base substitutionGAintron_variant
MELA-AU26436997264369972single base substitutionGAintron_variant
MELA-AU26437060464370604single base substitutionGAexon_variant
MELA-AU26437060464370604single base substitutionGAintron_variant
MELA-AU26437151564371515single base substitutionCT5_prime_UTR_variant
MELA-AU26437151564371515single base substitutionCTexon_variant
MELA-AU26437151564371515single base substitutionCTupstream_gene_variant
MELA-AU26437160764371607single base substitutionGAupstream_gene_variant
MELA-AU26437162264371622single base substitutionGAupstream_gene_variant
MELA-AU26437163264371632single base substitutionGAupstream_gene_variant
MELA-AU26437163664371636single base substitutionGAupstream_gene_variant
MELA-AU26437213664372136single base substitutionGAupstream_gene_variant
MELA-AU26437227264372272single base substitutionCTupstream_gene_variant
MELA-AU26437308164373081single base substitutionGAupstream_gene_variant
MELA-AU26437314564373145single base substitutionGAupstream_gene_variant
MELA-AU26437342064373420single base substitutionTCupstream_gene_variant
MELA-AU26437354464373544single base substitutionCTupstream_gene_variant
MELA-AU26437368864373688single base substitutionCTupstream_gene_variant
MELA-AU26437400164374001single base substitutionGAupstream_gene_variant
MELA-AU26437411764374117single base substitutionGAupstream_gene_variant
MELA-AU26437474164374741single base substitutionGAupstream_gene_variant
MELA-AU26437483664374836single base substitutionCTupstream_gene_variant
MELA-AU26437491564374915single base substitutionGAupstream_gene_variant
MELA-AU26437503364375033single base substitutionGAupstream_gene_variant
MELA-AU26437508064375080single base substitutionCTupstream_gene_variant
MELA-AU26437517064375170single base substitutionCTupstream_gene_variant
MELA-AU26437528064375280single base substitutionAGupstream_gene_variant
MELA-AU26437539164375391single base substitutionGAupstream_gene_variant
MELA-AU26437570064375700single base substitutionGAupstream_gene_variant
MELA-AU26437598464375984single base substitutionACupstream_gene_variant
MELA-AU26437602064376020single base substitutionGAupstream_gene_variant
MELA-AU26437618964376189single base substitutionGAupstream_gene_variant
MELA-AU26437640464376404single base substitutionCTupstream_gene_variant
ORCA-IN26432344964323449single base substitutionTAdownstream_gene_variant
ORCA-IN26432344964323449single base substitutionTAsplice_acceptor_variant
ORCA-IN26432366964323669single base substitutionTCdownstream_gene_variant
ORCA-IN26432366964323669single base substitutionTCmissense_variantT127A379A>G
ORCA-IN26436078964360789single base substitutionGAintron_variant
OV-AU26431544264315442single base substitutionGCdownstream_gene_variant
OV-AU26432268964322689single base substitutionGCdownstream_gene_variant
OV-AU26432268964322689single base substitutionGCintron_variant
OV-AU26433032864330328single base substitutionTCdownstream_gene_variant
OV-AU26433032864330328single base substitutionTCintron_variant
OV-AU26433555364335553single base substitutionGAintron_variant
OV-AU26433565564335655single base substitutionTCintron_variant
OV-AU26433861364338613single base substitutionTGintron_variant
OV-AU26434171864341718single base substitutionATintron_variant
OV-AU26434609164346091single base substitutionACintron_variant
OV-AU26435870064358700single base substitutionCTintron_variant
OV-AU26436355364363553single base substitutionGAintron_variant
OV-AU26436423764364237single base substitutionATintron_variant
OV-AU26437161464371614single base substitutionCAupstream_gene_variant
OV-AU26437235464372354single base substitutionGAupstream_gene_variant
OV-AU26437299964372999single base substitutionGCupstream_gene_variant
OV-AU26437534864375348single base substitutionCAupstream_gene_variant
PACA-AU26431817764318177single base substitutionCTdownstream_gene_variant
PACA-AU26431923364319233single base substitutionTGdownstream_gene_variant
PACA-AU26432072764320727single base substitutionCT3_prime_UTR_variant
PACA-AU26432533564325335single base substitutionAGdownstream_gene_variant
PACA-AU26432533564325335single base substitutionAGintron_variant
PACA-AU26433191764331917single base substitutionCAdownstream_gene_variant
PACA-AU26433191764331917single base substitutionCAexon_variant
PACA-AU26433191764331917single base substitutionCAmissense_variantR40M119G>T
PACA-AU26433243464332434single base substitutionTCdownstream_gene_variant
PACA-AU26433243464332434single base substitutionTCintron_variant
PACA-AU26433430164334301single base substitutionGAdownstream_gene_variant
PACA-AU26433430164334301single base substitutionGAintron_variant
PACA-AU26433570664335706single base substitutionTCintron_variant
PACA-AU26434288464342884single base substitutionGAintron_variant
PACA-AU26434666064346660single base substitutionCTintron_variant
PACA-AU26434973064349730single base substitutionCAintron_variant
PACA-AU26434973464349734single base substitutionACintron_variant
PACA-AU26435685664356858deletion of <=200bpTAT-intron_variant
PACA-AU26436656464366564single base substitutionCTintron_variant
PACA-AU26437159264371592single base substitutionGTupstream_gene_variant
PACA-AU26437463464374634single base substitutionCGupstream_gene_variant
PACA-CA26431585364315853single base substitutionTCdownstream_gene_variant
PACA-CA26431729564317295single base substitutionCTdownstream_gene_variant
PACA-CA26431875364318753single base substitutionGAdownstream_gene_variant
PACA-CA26431886264318862single base substitutionATdownstream_gene_variant
PACA-CA26431893564318935single base substitutionGAdownstream_gene_variant
PACA-CA26432348964323489single base substitutionTGdownstream_gene_variant
PACA-CA26432348964323489single base substitutionTGintron_variant
PACA-CA26432609664326096single base substitutionCTdownstream_gene_variant
PACA-CA26432609664326096single base substitutionCTintron_variant
PACA-CA26432787864327878single base substitutionATintron_variant
PACA-CA26432802764328027insertion of <=200bp-Tintron_variant
PACA-CA26433068264330682single base substitutionCAdownstream_gene_variant
PACA-CA26433068264330682single base substitutionCAintron_variant
PACA-CA26433080864330808single base substitutionCTdownstream_gene_variant
PACA-CA26433080864330808single base substitutionCTintron_variant
PACA-CA26433164764331647single base substitutionATdownstream_gene_variant
PACA-CA26433164764331647single base substitutionATintron_variant
PACA-CA26433172164331734deletion of <=200bpAAAGGCAATTTCTG-downstream_gene_variant
PACA-CA26433172164331734deletion of <=200bpAAAGGCAATTTCTG-intron_variant
PACA-CA26433172164331734deletion of <=200bpAAAGGCAATTTCTG-splice_acceptor_variant
PACA-CA26433353664333536single base substitutionACdownstream_gene_variant
PACA-CA26433353664333536single base substitutionACintron_variant
PACA-CA26433637964336379single base substitutionCTintron_variant
PACA-CA26433697664336976single base substitutionACintron_variant
PACA-CA26433739764337397single base substitutionAGintron_variant
PACA-CA26433930264339302single base substitutionGAintron_variant
PACA-CA26434503864345038single base substitutionGTintron_variant
PACA-CA26434564164345641single base substitutionCGintron_variant
PACA-CA26434612664346126single base substitutionATintron_variant
PACA-CA26434746364347463single base substitutionAGintron_variant
PACA-CA26435470664354706single base substitutionGAintron_variant
PACA-CA26435711764357117single base substitutionGCintron_variant
PACA-CA26435764064357640single base substitutionTAintron_variant
PACA-CA26436033764360337deletion of <=200bpC-intron_variant
PACA-CA26436340664363406single base substitutionACintron_variant
PACA-CA26436492664364926single base substitutionTGintron_variant
PACA-CA26436509764365097single base substitutionGCintron_variant
PACA-CA26436524764365247insertion of <=200bp-Tintron_variant
PACA-CA26436524864365248deletion of <=200bpT-intron_variant
PACA-CA26436529464365294single base substitutionCTintron_variant
PACA-CA26436850464368504single base substitutionTAintron_variant
PAEN-AU26434949164349491single base substitutionATintron_variant
PAEN-IT26437274964372749single base substitutionGTupstream_gene_variant
PBCA-DE26432375264323752deletion of <=200bpA-downstream_gene_variant
PBCA-DE26432375264323752deletion of <=200bpA-splice_region_variant
PBCA-DE26432630064326300insertion of <=200bp-ACdownstream_gene_variant
PBCA-DE26432630064326300insertion of <=200bp-ACintron_variant
PBCA-DE26432946664329467deletion of <=200bpAT-downstream_gene_variant
PBCA-DE26432946664329467deletion of <=200bpAT-intron_variant
PBCA-DE26433188364331883single base substitutionCAdownstream_gene_variant
PBCA-DE26433188364331883single base substitutionCAexon_variant
PBCA-DE26433188364331883single base substitutionCAsynonymous_variantG51G153G>T
PBCA-DE26434327664343276single base substitutionCTintron_variant
PBCA-DE26436461864364619deletion of <=200bpTG-intron_variant
PBCA-DE26436673464366734single base substitutionTAintron_variant
PBCA-DE26437613764376137single base substitutionGAupstream_gene_variant
PRAD-CA26434286664342866single base substitutionCAintron_variant
PRAD-CA26437040064370400single base substitutionAGintron_variant
PRAD-UK26433120364331203single base substitutionGTdownstream_gene_variant
PRAD-UK26433120364331203single base substitutionGTintron_variant
PRAD-UK26434025664340256single base substitutionTCintron_variant
PRAD-UK26434537064345370single base substitutionCGintron_variant
PRAD-UK26434603164346031single base substitutionTCintron_variant
PRAD-UK26435016664350166single base substitutionCGintron_variant
PRAD-UK26437267164372671single base substitutionAGupstream_gene_variant
RECA-EU26432746664327466single base substitutionAGdownstream_gene_variant
RECA-EU26432746664327466single base substitutionAGintron_variant
RECA-EU26433621064336210single base substitutionGTintron_variant
RECA-EU26434208564342085single base substitutionCTintron_variant
RECA-EU26435441664354416single base substitutionTAintron_variant
RECA-EU26435718864357188single base substitutionTCintron_variant
SKCA-BR26431893564318935single base substitutionGAdownstream_gene_variant
SKCA-BR26432084664320846single base substitutionAC3_prime_UTR_variant
SKCA-BR26432375164323751insertion of <=200bp-GAdownstream_gene_variant
SKCA-BR26432375164323751insertion of <=200bp-GAsplice_region_variant
SKCA-BR26432629964326299insertion of <=200bp-TACACdownstream_gene_variant
SKCA-BR26432629964326299insertion of <=200bp-TACACintron_variant
SKCA-BR26432846364328463insertion of <=200bp-TAdownstream_gene_variant
SKCA-BR26432846364328463insertion of <=200bp-TAintron_variant
SKCA-BR26432999064329990single base substitutionATdownstream_gene_variant
SKCA-BR26432999064329990single base substitutionATintron_variant
SKCA-BR26433402764334027single base substitutionGAdownstream_gene_variant
SKCA-BR26433402764334027single base substitutionGAintron_variant
SKCA-BR26433680064336800single base substitutionGAintron_variant
SKCA-BR26433798464337984single base substitutionCTintron_variant
SKCA-BR26434040764340407single base substitutionGCintron_variant
SKCA-BR26434077064340770single base substitutionATintron_variant
SKCA-BR26434414364344143single base substitutionCTintron_variant
SKCA-BR26434418564344185single base substitutionCGintron_variant
SKCA-BR26434418964344189single base substitutionCTintron_variant
SKCA-BR26434468764344687single base substitutionGAintron_variant
SKCA-BR26434630164346301single base substitutionGAintron_variant
SKCA-BR26434924464349244single base substitutionACintron_variant
SKCA-BR26435221464352214single base substitutionTGintron_variant
SKCA-BR26435451064354510single base substitutionATintron_variant
SKCA-BR26435596264355962single base substitutionACintron_variant
SKCA-BR26435964964359649single base substitutionGAintron_variant
SKCA-BR26436025764360258deletion of <=200bpAT-intron_variant
SKCA-BR26436721764367217single base substitutionAGintron_variant
SKCA-BR26436889664368896single base substitutionCGintron_variant
SKCA-BR26437067564370675single base substitutionGAintron_variant
SKCA-BR26437106564371065single base substitutionTCintron_variant
SKCA-BR26437110064371100single base substitutionAGintron_variant
SKCA-BR26437111964371119single base substitutionCGintron_variant
SKCA-BR26437129764371297single base substitutionGC5_prime_UTR_premature_start_codon_gain_variant
SKCA-BR26437129764371297single base substitutionGCexon_variant
SKCA-BR26437159164371591single base substitutionGAupstream_gene_variant
SKCA-BR26437183964371839single base substitutionGAupstream_gene_variant
SKCA-BR26437315864373158single base substitutionCAupstream_gene_variant
SKCA-BR26437346764373467single base substitutionTCupstream_gene_variant
SKCA-BR26437496564374965single base substitutionTAupstream_gene_variant
SKCM-US26432236864322368single base substitutionGAmissense_variantS242L725C>T
SKCM-US26432341664323416single base substitutionCTdownstream_gene_variant
SKCM-US26432341664323416single base substitutionCTmissense_variantG178E533G>A
SKCM-US26432754564327545single base substitutionGAexon_variant
SKCM-US26432754564327545single base substitutionGAmissense_variantT97I290C>T
SKCM-US26432760264327602single base substitutionGAexon_variant
SKCM-US26432760264327602single base substitutionGAmissense_variantS78L233C>T
STAD-US26432200164322001deletion of <=200bpA-frameshift_variantF364
STAD-US26432204164322041single base substitutionGAmissense_variantA351V1052C>T
STAD-US26432340064323400insertion of <=200bp-Adownstream_gene_variant
STAD-US26432340064323400insertion of <=200bp-Aframeshift_variantL183L?
STAD-US26432340164323401insertion of <=200bp-Adownstream_gene_variant
STAD-US26432340164323401insertion of <=200bp-Aframeshift_variantL183F?
STAD-US26432760064327600single base substitutionAGexon_variant
STAD-US26432760064327600single base substitutionAGmissense_variantY79H235T>C
STAD-US26433192964331931deletion of <=200bpCTT-disruptive_inframe_deletionGR35G
STAD-US26433192964331931deletion of <=200bpCTT-downstream_gene_variant
STAD-US26433192964331931deletion of <=200bpCTT-exon_variant
THCA-SA26432754464327544single base substitutionGTexon_variant
THCA-SA26432754464327544single base substitutionGTsynonymous_variantT97T291C>A
THCA-SA26432759264327592single base substitutionTCexon_variant
THCA-SA26432759264327592single base substitutionTCsynonymous_variantL81L243A>G
THCA-US26432339964323399single base substitutionTCdownstream_gene_variant
THCA-US26432339964323399single base substitutionTCmissense_variantT184A550A>G
UCEC-US26432214564322145single base substitutionGAsynonymous_variantG316G948C>T
UCEC-US26432222964322229single base substitutionTAsynonymous_variantT288T864A>T
UCEC-US26432761264327612single base substitutionGAexon_variant
UCEC-US26432761264327612single base substitutionGAmissense_variantH75Y223C>T
UCEC-US26433542064335420single base substitutionGTdownstream_gene_variant
UCEC-US26433542064335420single base substitutionGTexon_variant
UCEC-US26433542064335420single base substitutionGTmissense_variantH9N25C>A
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
PT15_1COSM3730651c.304-8delTp.?Unknown2:64096618-64096618-
T1154COSM4713592c.367A>Cp.S123RSubstitution - Missense2:64096547-64096547-
TCGA-FD-A3SR-01COSM3799120c.712T>Gp.L238VSubstitution - Missense2:64095247-64095247-
ESO-K08COSM1261943c.1146C>Tp.I382ISubstitution - coding silent2:64094813-64094813-
S00830COSM317863c.1175A>Tp.H392LSubstitution - Missense2:64094784-64094784-
90COSM5014230c.675G>Cp.Q225HSubstitution - Missense2:64096140-64096140-
521COSM5612176c.156G>Ap.V52VSubstitution - coding silent2:64104746-64104746-
GC_370T-GC_370NCOSM4772944c.108G>Tp.R36SSubstitution - Missense2:64104794-64104794-
TCGA-DK-A1A3-01COSM419129c.13G>Ap.D5NSubstitution - Missense2:64108298-64108298-
TCGA-EL-A4JX-01COSM3372841c.550A>Gp.T184ASubstitution - Missense2:64096265-64096265-
9-RSCOSM1731858c.307G>Tp.G103CSubstitution - Missense2:64096607-64096607-
TCGA-13-1408-01COSM79405c.1042G>Tp.G348*Substitution - Nonsense2:64094917-64094917-
CSCC-6-TCOSM4460424c.1165C>Tp.H389YSubstitution - Missense2:64094794-64094794-
LP6007600COSM4411665c.162C>Tp.P54PSubstitution - coding silent2:64104740-64104740-
TCGA-23-1118-01COSM1327010c.1043_1044GA>ATp.G348DSubstitution - Missense2:64094915-64094916-
TCGA-BR-4257-01COSM4095123c.1052C>Tp.A351VSubstitution - Missense2:64094907-64094907-
SWE-3BCOSM1178357c.1181C>Ap.A394DSubstitution - Missense2:64094778-64094778-
CSCC-44-TCOSM4460132c.1153C>Tp.P385SSubstitution - Missense2:64094806-64094806-
SC_9008COSM5564080c.311G>Ap.R104QSubstitution - Missense2:64096603-64096603-
LUAD-S01331COSM405063c.529delGp.D177fs*7Deletion - Frameshift2:64096286-64096286-
TCGA-AM-5820-01COSM3758303c.243A>Gp.L81LSubstitution - coding silent2:64100458-64100458-
255COSM3731878c.304-9_304-8delTTp.?Unknown2:64096618-64096619-
ATL012COSM5708285c.962G>Ap.G321ESubstitution - Missense2:64094997-64094997-
PT23_2COSM5903418c.787C>Tp.P263SSubstitution - Missense2:64095172-64095172-
ESCC_13COSM5625241c.38C>Ap.A13ESubstitution - Missense2:64108273-64108273-
TCGA-BR-4280-01COSM4095124c.235T>Cp.Y79HSubstitution - Missense2:64100466-64100466-
PT37COSM5917730c.887G>Ap.R296KSubstitution - Missense2:64095072-64095072-
1N34-VS-1T34COSM4974721c.1249C>Gp.L417VSubstitution - Missense2:64094710-64094710-
TCGA-AA-3833-01COSM271462c.859A>Gp.N287DSubstitution - Missense2:64095100-64095100-
MD-207COSM302904c.960G>Ap.W320*Substitution - Nonsense2:64094999-64094999-
PTC_221COSM5960210c.291C>Ap.T97TSubstitution - coding silent2:64100410-64100410-
TCGA-A2-A0EY-01COSM443094c.1156C>Tp.H386YSubstitution - Missense2:64094803-64094803-
ESCC_BICR_007TCOSM5434130c.97G>Ap.D33NSubstitution - Missense2:64104805-64104805-
TCGA-GN-A26C-01COSM3582573c.233C>Tp.S78LSubstitution - Missense2:64100468-64100468-
OSCC-GB_01280111COSM5954241c.379A>Gp.T127ASubstitution - Missense2:64096535-64096535-
ZZUFHECRKL-G072TCOSM5432898c.435G>Tp.R145RSubstitution - coding silent2:64096479-64096479-
41TCOSM3714297c.502-2A>Tp.?Unknown2:64096315-64096315-
TCGA-AP-A051-01COSM1022229c.948C>Tp.G316GSubstitution - coding silent2:64095011-64095011-
YUKATCOSM5397217c.188C>Tp.P63LSubstitution - Missense2:64104714-64104714-
TCGA-AO-A03M-01COSM3839821c.952C>Tp.H318YSubstitution - Missense2:64095007-64095007-
PT44COSM5926365c.304-6C>Tp.?Unknown2:64096616-64096616-
TCGA-A6-5665-01COSM1408977c.303+2T>Cp.?Unknown2:64100396-64100396-
PTC_331COSM3758303c.243A>Gp.L81LSubstitution - coding silent2:64100458-64100458-
TCGA-D1-A1NU-01COSM1022230c.864A>Tp.T288TSubstitution - coding silent2:64095095-64095095-
T1743COSM4713590c.594A>Gp.T198TSubstitution - coding silent2:64096221-64096221-
587342COSM1220184c.303G>Tp.Q101HSubstitution - Missense2:64100398-64100398-
TARGET-30-PARBGPCOSM1287075c.659A>Gp.E220GSubstitution - Missense2:64096156-64096156-
tumor_4144951COSM5948897c.446T>Gp.F149CSubstitution - Missense2:64096468-64096468-
OSCC-GB_00410111COSM3714297c.502-2A>Tp.?Unknown2:64096315-64096315-
LUAD-NYU508COSM374798c.602C>Ap.S201YSubstitution - Missense2:64096213-64096213-
8016470COSM3391812c.119G>Tp.R40MSubstitution - Missense2:64104783-64104783-
LIM1899COSM4613091c.688_689insAp.M230fs*5Insertion - Frameshift2:64096126-64096127-
TCGA-DI-A0WH-01COSM1022231c.580C>Tp.R194CSubstitution - Missense2:64096235-64096235-
TCGA-AP-A051-01COSM1022232c.223C>Tp.H75YSubstitution - Missense2:64100478-64100478-
2492700COSM5600192c.813A>Gp.L271LSubstitution - coding silent2:64095146-64095146-
SNU-175COSM4314659c.197C>Tp.A66VSubstitution - Missense2:64104705-64104705-
TCGA-AS-3777-01COSM1494951c.612A>Gp.G204GSubstitution - coding silent2:64096203-64096203-
2113174COSM3055062c.934G>Ap.G312SSubstitution - Missense2:64095025-64095025-
2492702COSM5600192c.813A>Gp.L271LSubstitution - coding silent2:64095146-64095146-
T3240COSM4713591c.430G>Cp.E144QSubstitution - Missense2:64096484-64096484-
TCGA-DS-A1OC-01COSM1293992c.1174C>Tp.H392YSubstitution - Missense2:64094785-64094785-
LIM1899COSM4640452c.399T>Cp.T133TSubstitution - coding silent2:64096515-64096515-
STC263COSM5058994c.1158T>Ap.H386QSubstitution - Missense2:64094801-64094801-
Au2COSM5600192c.813A>Gp.L271LSubstitution - coding silent2:64095146-64095146-
C086COSM5536922c.1075C>Tp.P359SSubstitution - Missense2:64094884-64094884-
13280COSM5615113c.821A>Gp.E274GSubstitution - Missense2:64095138-64095138-
TCGA-33-4582-01COSM722076c.167C>Gp.T56SSubstitution - Missense2:64104735-64104735-
EGC15COSM5058995c.977G>Ap.R326HSubstitution - Missense2:64094982-64094982-
TCGA-A4-8515-01COSM3991402c.602C>Tp.S201FSubstitution - Missense2:64096213-64096213-
TCGA-D9-A1JW-06COSM3582571c.533G>Ap.G178ESubstitution - Missense2:64096282-64096282-
TCGA-37-3783-01COSM722079c.1115C>Tp.S372LSubstitution - Missense2:64094844-64094844-
ACINAR01COSM1735133c.909delAp.K303fs*7Deletion - Frameshift2:64095050-64095050-
T3152COSM4713589c.834A>Gp.A278ASubstitution - coding silent2:64095125-64095125-
YUMOKICOSM5397216c.608C>Tp.P203LSubstitution - Missense2:64096207-64096207-
2521243COSM5886177c.1096C>Tp.P366SSubstitution - Missense2:64094863-64094863-
TCGA-EB-A4IS-01COSM3582572c.290C>Tp.T97ISubstitution - Missense2:64100411-64100411-
PTC-7CCOSM4133885c.346G>Cp.D116HSubstitution - Missense2:64096568-64096568-
S00830COSM317863c.1175A>Tp.H392LSubstitution - Missense2:64094784-64094784-
TCGA-A6-6654-01COSM1408976c.895G>Ap.V299ISubstitution - Missense2:64095064-64095064-
2492701COSM5600192c.813A>Gp.L271LSubstitution - coding silent2:64095146-64095146-
TCGA-CW-6090-01COSM477568c.1112G>Tp.C371FSubstitution - Missense2:64094847-64094847-
CHC1434TCOSM3669022c.568G>Tp.V190LSubstitution - Missense2:64096247-64096247-
TCGA-EE-A2GO-06COSM3582570c.725C>Tp.S242LSubstitution - Missense2:64095234-64095234-
TCGA-18-3409-01COSM722077c.991C>Tp.R331CSubstitution - Missense2:64094968-64094968-
2492703COSM5600192c.813A>Gp.L271LSubstitution - coding silent2:64095146-64095146-
TCGA-AX-A05Z-01COSM1022233c.25C>Ap.H9NSubstitution - Missense2:64108286-64108286-
PT36COSM4314644c.304-7C>Tp.?Unknown2:64096617-64096617-
234COSM3730651c.304-8delTp.?Unknown2:64096618-64096618-
TCGA-14-0862-01COSM3407928c.571A>Gp.M191VSubstitution - Missense2:64096244-64096244-
PA182COSM1162610c.708T>Ap.N236KSubstitution - Missense2:64095251-64095251-
2521252COSM722077c.991C>Tp.R331CSubstitution - Missense2:64094968-64094968-
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.741214;Hs.7412162p13.3608249;6147972414086|CGAP|BC000369|A/C|non-coding||395|Validated;
2414086|CGAP|BC001218|A/C|non-coding||398|Validated;
2414086|CGAP|BC004435|A/C|non-coding||395|Validated
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
ACIntronicSNV.c.1-1072T>G264336516PIA
-AFrameshiftp.L183Ffs*4c.548dupT264323401STAD
AGMissensep.Y79Hc.235T>C264327600STAD
CANonsensep.G348*c.1042G>T264322051OV
CGMissensep.V370Lc.1108G>C264321985CM
CTMissensep.D5Nc.13G>A264335432BLCA
CTMissensep.G178Ec.533G>A264323416CM
CTMissensep.R152Qc.455G>A264323593CM
GAMissensep.A351Vc.1052C>T264322041STAD
GAMissensep.H386Yc.1156C>T264321937BRCA
GAMissensep.S242Lc.725C>T264322368CM
GAMissensep.S372Lc.1115C>T264321978LUSC
GAMissensep.S78Lc.233C>T264327602CM
GASynonymousp.I382Ic.1146C>T264321947ESCA
GCMissensep.T56Sc.167C>G264331869LUSC
GTMissensep.S201Yc.602C>A264323347LUAD
TAMissensep.H392Lc.1175A>T264321918SCLC
TASynonymousp.T288Tc.864A>T264322229UCEC
TCATMissensep.G348Dc.1043_1044delinsAT264322049OV
TCMissensep.E220Gc.659A>G264323290NB
TCMissensep.E274Gc.821A>G264322272NSCLC
TCMissensep.M191Vc.571A>G264323378GBM
TCSynonymousp.G204Gc.612A>G264323337LUAD