PRPF19
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
ACC116066665160666651+SilentSNPGGATCGA-OR-A5J5-01A-11D-A29I-10TCGA-OR-A5J5-10A-01D-A29L-10g.chr11:60666651G>Ac.954C>Tc.(952-954)ggC>ggTp.G318G
BLCA116066537360665374+Frame_Shift_InsINS--CTCGA-ZF-A9RC-01A-11D-A38G-08TCGA-ZF-A9RC-10A-01D-A38J-08g.chr11:60665373_60665374insCc.1361_1362insGc.(1360-1362)ggcfsp.G454fs
BLCA116066557160665571+Splice_SiteSNPAACTCGA-DK-AA6R-01A-11D-A42E-08TCGA-DK-AA6R-10A-01D-A42H-08g.chr11:60665571A>Cc.e14+1
BLCA116066561360665613+Missense_MutationSNPAACTCGA-2F-A9KT-01A-11D-A38G-08TCGA-2F-A9KT-10A-01D-A38J-08g.chr11:60665613A>Cc.1271T>Gc.(1270-1272)cTt>cGtp.L424R
BLCA116067123460671234+Missense_MutationSNPTTCTCGA-CU-A3YL-01A-11D-A22Z-08TCGA-CU-A3YL-10A-01D-A22Z-08g.chr11:60671234T>Cc.119A>Gc.(118-120)gAc>gGcp.D40G
BLCA116067124560671245+Missense_MutationSNPCCATCGA-DK-A6AW-01A-11D-A30E-08TCGA-DK-A6AW-10A-01D-A30H-08g.chr11:60671245C>Ac.108G>Tc.(106-108)gaG>gaTp.E36D
BLCA116067132560671325+Missense_MutationSNPCCTTCGA-CF-A1HR-01A-11D-A13W-08TCGA-CF-A1HR-10A-01D-A13W-08g.chr11:60671325C>Tc.28G>Ac.(28-30)Gaa>Aaap.E10K
BRCA116066882360668823+Missense_MutationSNPCCGTCGA-BH-A0B6-01A-11D-A19Y-09TCGA-BH-A0B6-10A-01D-A19Y-09g.chr11:60668823C>Gc.586G>Cc.(586-588)Gag>Cagp.E196Q
BRCA116066899360668993+Missense_MutationSNPAACTCGA-BH-A1F5-01A-12D-A13L-09TCGA-BH-A1F5-11A-43D-A13O-09g.chr11:60668993A>Cc.545T>Gc.(544-546)gTg>gGgp.V182G
BRCA116067097760670977+Missense_MutationSNPGGATCGA-AC-A5EI-01A-11D-A27P-09TCGA-AC-A5EI-10A-01D-A27P-09g.chr11:60670977G>Ac.200C>Tc.(199-201)tCa>tTap.S67L
CESC116066634760666347+Missense_MutationSNPCCGTCGA-FU-A3TX-01A-11D-A22X-09TCGA-FU-A3TX-10A-01D-A22X-09g.chr11:60666347C>Gc.1041G>Cc.(1039-1041)gaG>gaCp.E347D
COAD116065867160658671+SilentSNPGGATCGA-AA-3518-01A-02W-0833-10TCGA-AA-3518-10A-01W-0833-10g.chr11:60658671G>Ac.1482C>Tc.(1480-1482)ggC>ggTp.G494G
COAD116065871260658712+Missense_MutationSNPCCTTCGA-AA-3984-01A-02W-0995-10TCGA-AA-3984-10A-01W-0999-10g.chr11:60658712C>Tc.1441G>Ac.(1441-1443)Gtg>Atgp.V481M
COAD116066537060665370+SilentSNPCCTTCGA-CK-6746-01A-11D-1835-10TCGA-CK-6746-10A-01D-1835-10g.chr11:60665370C>Tc.1365G>Ac.(1363-1365)acG>acAp.T455T
COAD116066838860668388+Missense_MutationSNPGGATCGA-AA-3864-01A-01W-0995-10TCGA-AA-3864-10A-01W-0995-10g.chr11:60668388G>Ac.656C>Tc.(655-657)gCc>gTcp.A219V
COAD116067028460670284+Missense_MutationSNPCCTTCGA-A6-6781-01A-22D-1924-10TCGA-A6-6781-10A-01D-1924-10g.chr11:60670284C>Tc.316G>Ac.(316-318)Gct>Actp.A106T
COAD116067126860671269+Missense_MutationDNPGCGCCTTCGA-AA-A01K-01A-01W-A00E-09TCGA-AA-A01K-10A-01W-A00E-09g.chr11:60671268_60671269GC>CTc.84_85GC>AGc.(82-87)cgGCtc>cgAGtcp.L29V
COADREAD116065867160658671+SilentSNPGGATCGA-AA-3518-01A-02W-0833-10TCGA-AA-3518-10A-01W-0833-10g.chr11:60658671G>Ac.1482C>Tc.(1480-1482)ggC>ggTp.G494G
COADREAD116065871260658712+Missense_MutationSNPCCTTCGA-AA-3984-01A-02W-0995-10TCGA-AA-3984-10A-01W-0999-10g.chr11:60658712C>Tc.1441G>Ac.(1441-1443)Gtg>Atgp.V481M
COADREAD116066537060665370+SilentSNPCCTTCGA-CK-6746-01A-11D-1835-10TCGA-CK-6746-10A-01D-1835-10g.chr11:60665370C>Tc.1365G>Ac.(1363-1365)acG>acAp.T455T
COADREAD116066666960666669+SilentSNPGGATCGA-DY-A1DG-01A-11D-A152-10TCGA-DY-A1DG-10A-01D-A152-10g.chr11:60666669G>Ac.936C>Tc.(934-936)ctC>ctTp.L312L
COADREAD116066838860668388+Missense_MutationSNPGGATCGA-AA-3864-01A-01W-0995-10TCGA-AA-3864-10A-01W-0995-10g.chr11:60668388G>Ac.656C>Tc.(655-657)gCc>gTcp.A219V
COADREAD116067022560670225+SilentSNPAAGTCGA-AG-A02G-01A-01W-A00E-09TCGA-AG-A02G-10A-01W-A00E-09g.chr11:60670225A>Gc.375T>Cc.(373-375)acT>acCp.T125T
COADREAD116067028460670284+Missense_MutationSNPCCTTCGA-A6-6781-01A-22D-1924-10TCGA-A6-6781-10A-01D-1924-10g.chr11:60670284C>Tc.316G>Ac.(316-318)Gct>Actp.A106T
COADREAD116067126860671269+Missense_MutationDNPGCGCCTTCGA-AA-A01K-01A-01W-A00E-09TCGA-AA-A01K-10A-01W-A00E-09g.chr11:60671268_60671269GC>CTc.84_85GC>AGc.(82-87)cgGCtc>cgAGtcp.L29V
ESCA116066604460666044+Missense_MutationSNPAATTCGA-2H-A9GM-01A-11D-A37C-09TCGA-2H-A9GM-11A-11D-A37F-09g.chr11:60666044A>Tc.1109T>Ac.(1108-1110)aTg>aAgp.M370K
ESCA116066988160669881+SilentSNPAATTCGA-L5-A8NR-01A-11D-A37C-09TCGA-L5-A8NR-11A-11D-A37F-09g.chr11:60669881A>Tc.519T>Ac.(517-519)atT>atAp.I173I
GBM116066570960665709+Missense_MutationSNPGGATCGA-76-4931-01A-01D-1486-08TCGA-76-4931-10A-01D-1486-08g.chr11:60665709G>Ac.1175C>Tc.(1174-1176)tCg>tTgp.S392L
GBMLGG116065869560658695+SilentSNPGGATCGA-E1-A7YJ-01A-11D-A34A-08TCGA-E1-A7YJ-10A-01D-A34A-08g.chr11:60658695G>Ac.1458C>Tc.(1456-1458)caC>caTp.H486H
GBMLGG116066531760665317+Splice_SiteSNPCCGTCGA-P5-A77X-01A-11D-A32B-08TCGA-P5-A77X-10A-01D-A329-08g.chr11:60665317C>Gc.e15+1
GBMLGG116066570960665709+Missense_MutationSNPGGATCGA-76-4931-01A-01D-1486-08TCGA-76-4931-10A-01D-1486-08g.chr11:60665709G>Ac.1175C>Tc.(1174-1176)tCg>tTgp.S392L
KIPAN116065867860658678+Missense_MutationSNPGGATCGA-AK-3451-01A-02D-1251-10TCGA-AK-3451-10A-01D-1251-10g.chr11:60658678G>Ac.1475C>Tc.(1474-1476)tCa>tTap.S492L
KIPAN116065869560658695+SilentSNPGGATCGA-BP-4963-01A-01D-1462-08TCGA-BP-4963-11A-01D-1462-08g.chr11:60658695G>Ac.1458C>Tc.(1456-1458)caC>caTp.H486H
KIPAN116066606960666069+Missense_MutationSNPCCTTCGA-5P-A9K3-01A-11D-A42J-10TCGA-5P-A9K3-10A-01D-A42M-10g.chr11:60666069C>Tc.1084G>Ac.(1084-1086)Gga>Agap.G362R
KIPAN116067132960671329+SilentSNPAATTCGA-CZ-5462-01A-01D-1501-10TCGA-CZ-5462-11A-01D-1501-10g.chr11:60671329A>Tc.24T>Ac.(22-24)tcT>tcAp.S8S
KIRC116065867860658678+Missense_MutationSNPGGATCGA-AK-3451-01A-02D-1251-10TCGA-AK-3451-10A-01D-1251-10g.chr11:60658678G>Ac.1475C>Tc.(1474-1476)tCa>tTap.S492L
KIRC116065869560658695+SilentSNPGGATCGA-BP-4963-01A-01D-1462-08TCGA-BP-4963-11A-01D-1462-08g.chr11:60658695G>Ac.1458C>Tc.(1456-1458)caC>caTp.H486H
KIRC116067132960671329+SilentSNPAATTCGA-CZ-5462-01A-01D-1501-10TCGA-CZ-5462-11A-01D-1501-10g.chr11:60671329A>Tc.24T>Ac.(22-24)tcT>tcAp.S8S
KIRP116066606960666069+Missense_MutationSNPCCTTCGA-5P-A9K3-01A-11D-A42J-10TCGA-5P-A9K3-10A-01D-A42M-10g.chr11:60666069C>Tc.1084G>Ac.(1084-1086)Gga>Agap.G362R
LGG116065869560658695+SilentSNPGGATCGA-E1-A7YJ-01A-11D-A34A-08TCGA-E1-A7YJ-10A-01D-A34A-08g.chr11:60658695G>Ac.1458C>Tc.(1456-1458)caC>caTp.H486H
LGG116066531760665317+Splice_SiteSNPCCGTCGA-P5-A77X-01A-11D-A32B-08TCGA-P5-A77X-10A-01D-A329-08g.chr11:60665317C>Gc.e15+1
LIHC116066665760666657+SilentSNPGGTTCGA-EP-A2KA-01A-11D-A183-10TCGA-EP-A2KA-10A-01D-A183-10g.chr11:60666657G>Tc.948C>Ac.(946-948)gcC>gcAp.A316A
LIHC116067010960670109+SilentSNPTTCTCGA-ZP-A9D1-01A-11D-A382-10TCGA-ZP-A9D1-10B-01D-A385-10g.chr11:60670109T>Cc.408A>Gc.(406-408)ccA>ccGp.P136P
LIHC116067024160670241+Missense_MutationSNPAAGTCGA-ES-A2HS-01A-11D-A183-10TCGA-ES-A2HS-11A-11D-A183-10g.chr11:60670241A>Gc.359T>Cc.(358-360)cTc>cCcp.L120P
LUAD116065870160658701+SilentSNPCCGTCGA-78-7147-01A-11D-2036-08TCGA-78-7147-10A-01D-2036-08g.chr11:60658701C>Gc.1452G>Cc.(1450-1452)ggG>ggCp.G484G
LUAD116065872660658726+Missense_MutationSNPCCTTCGA-73-4662-01A-01D-1265-08TCGA-73-4662-11A-01D-1265-08g.chr11:60658726C>Tc.1427G>Ac.(1426-1428)gGc>gAcp.G476D
LUAD116066564760665647+Missense_MutationSNPCCATCGA-NJ-A4YF-01A-12D-A25L-08TCGA-NJ-A4YF-10A-01D-A25L-08g.chr11:60665647C>Ac.1237G>Tc.(1237-1239)Gac>Tacp.D413Y
LUAD116066602860666028+Missense_MutationSNPCCATCGA-99-8033-01A-11D-2238-08TCGA-99-8033-10A-01D-2238-08g.chr11:60666028C>Ac.1125G>Tc.(1123-1125)aaG>aaTp.K375N
LUAD116066672360666723+SilentSNPGGATCGA-78-7147-01A-11D-2036-08TCGA-78-7147-10A-01D-2036-08g.chr11:60666723G>Ac.882C>Tc.(880-882)ccC>ccTp.P294P
LUAD116067007760670077+Missense_MutationSNPGGATCGA-86-8359-01A-11D-2323-08TCGA-86-8359-10A-01D-2323-08g.chr11:60670077G>Ac.440C>Tc.(439-441)cCa>cTap.P147L
LUSC116066531860665318+Splice_SiteSNPCCTTCGA-22-4595-01A-01D-1267-08TCGA-22-4595-11A-01D-1267-08g.chr11:60665318C>Tc.1417G>Ac.(1417-1419)Gag>Aagp.E473K
LUSC116066563660665636+SilentSNPGGCTCGA-18-3421-01A-01D-0983-08TCGA-18-3421-11A-01D-0983-08g.chr11:60665636G>Cc.1248C>Gc.(1246-1248)gtC>gtGp.V416V
LUSC116066572260665722+Missense_MutationSNPAAGTCGA-56-5898-01A-11D-1632-08TCGA-56-5898-10A-01D-1632-08g.chr11:60665722A>Gc.1162T>Cc.(1162-1164)Ttc>Ctcp.F388L
LUSC116067120860671208+Nonsense_MutationSNPCCATCGA-18-5592-01A-01D-1632-08TCGA-18-5592-11A-11D-1632-08g.chr11:60671208C>Ac.145G>Tc.(145-147)Gag>Tagp.E49*
OV116066882060668820+Nonsense_MutationSNPCCATCGA-09-2050-01A-01W-0799-08TCGA-09-2050-10A-01W-0799-08g.chr11:60668820C>Ac.589G>Tc.(589-591)Gag>Tagp.E197*
PRAD116065869560658695+SilentSNPGGATCGA-QU-A6IN-01A-11D-A31L-08TCGA-QU-A6IN-10A-01D-A31J-08g.chr11:60658695G>Ac.1458C>Tc.(1456-1458)caC>caTp.H486H
PRAD116066606960666069+Nonsense_MutationSNPCCATCGA-G9-6329-01A-13D-1961-08TCGA-G9-6329-10A-01D-1961-08g.chr11:60666069C>Ac.1084G>Tc.(1084-1086)Gga>Tgap.G362*
PRAD116066838660668386+Missense_MutationSNPTTCTCGA-KC-A4BL-01A-31D-A257-08TCGA-KC-A4BL-10A-01D-A25A-08g.chr11:60668386T>Cc.658A>Gc.(658-660)Agc>Ggcp.S220G
READ116066666960666669+SilentSNPGGATCGA-DY-A1DG-01A-11D-A152-10TCGA-DY-A1DG-10A-01D-A152-10g.chr11:60666669G>Ac.936C>Tc.(934-936)ctC>ctTp.L312L
READ116067022560670225+SilentSNPAAGTCGA-AG-A02G-01A-01W-A00E-09TCGA-AG-A02G-10A-01W-A00E-09g.chr11:60670225A>Gc.375T>Cc.(373-375)acT>acCp.T125T
SKCM116066884060668840+Splice_SiteSNPCCTTCGA-FS-A1ZK-06A-11D-A197-08TCGA-FS-A1ZK-10A-01D-A199-08g.chr11:60668840C>Tc.569G>Ac.(568-570)aGa>aAap.R190K
SKCM116067133060671330+Missense_MutationSNPGGATCGA-EE-A2GM-06B-11D-A196-08TCGA-EE-A2GM-10A-01D-A198-08g.chr11:60671330G>Ac.23C>Tc.(22-24)tCt>tTtp.S8F
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-CN116067386860673868single base substitutionTC5_prime_UTR_variant
BLCA-CN116067386860673868single base substitutionTCupstream_gene_variant
BLCA-US116067123460671234single base substitutionTC5_prime_UTR_variant
BLCA-US116067123460671234single base substitutionTCmissense_variantD40G119A>G
BLCA-US116067123460671234single base substitutionTCupstream_gene_variant
BLCA-US116067132560671325single base substitutionCT5_prime_UTR_variant
BLCA-US116067132560671325single base substitutionCTmissense_variantE10K28G>A
BLCA-US116067132560671325single base substitutionCTupstream_gene_variant
BRCA-EU116065421860654218single base substitutionAGdownstream_gene_variant
BRCA-EU116065475460654754single base substitutionGCdownstream_gene_variant
BRCA-EU116065526560655265single base substitutionCGdownstream_gene_variant
BRCA-EU116065673860656738deletion of <=200bpT-downstream_gene_variant
BRCA-EU116065701060657010single base substitutionCGdownstream_gene_variant
BRCA-EU116065758960657589single base substitutionCTdownstream_gene_variant
BRCA-EU116065774360657743single base substitutionCAdownstream_gene_variant
BRCA-EU116065830860658308single base substitutionCT3_prime_UTR_variant
BRCA-EU116065830860658308single base substitutionCTintron_variant
BRCA-EU116065868660658686single base substitutionGAintron_variant
BRCA-EU116065868660658686single base substitutionGAsynonymous_variantF104F312C>T
BRCA-EU116065868660658686single base substitutionGAsynonymous_variantF489F1467C>T
BRCA-EU116066005760660057single base substitutionCGdownstream_gene_variant
BRCA-EU116066005760660057single base substitutionCGintron_variant
BRCA-EU116066012260660122single base substitutionACdownstream_gene_variant
BRCA-EU116066012260660122single base substitutionACintron_variant
BRCA-EU116066110060661100single base substitutionGAdownstream_gene_variant
BRCA-EU116066110060661100single base substitutionGAintron_variant
BRCA-EU116066139160661391deletion of <=200bpA-downstream_gene_variant
BRCA-EU116066139160661391deletion of <=200bpA-intron_variant
BRCA-EU116066268860662688single base substitutionGCdownstream_gene_variant
BRCA-EU116066268860662688single base substitutionGCintron_variant
BRCA-EU116066400560664005single base substitutionCAdownstream_gene_variant
BRCA-EU116066400560664005single base substitutionCAintron_variant
BRCA-EU116066565860665658single base substitutionGAdownstream_gene_variant
BRCA-EU116066565860665658single base substitutionGAexon_variant
BRCA-EU116066565860665658single base substitutionGAintron_variant
BRCA-EU116066565860665658single base substitutionGAmissense_variantT409I1226C>T
BRCA-EU116066780060667800single base substitutionGAdownstream_gene_variant
BRCA-EU116066780060667800single base substitutionGAintron_variant
BRCA-EU116066780060667800single base substitutionGAupstream_gene_variant
BRCA-EU116066882360668823single base substitutionCGdownstream_gene_variant
BRCA-EU116066882360668823single base substitutionCGmissense_variantE196Q586G>C
BRCA-EU116066882360668823single base substitutionCGmissense_variantE25Q73G>C
BRCA-EU116066882360668823single base substitutionCGupstream_gene_variant
BRCA-EU116067013160670131single base substitutionGCsplice_region_variant
BRCA-EU116067013160670131single base substitutionGCupstream_gene_variant
BRCA-EU116067356860673568single base substitutionCTintron_variant
BRCA-EU116067356860673568single base substitutionCTupstream_gene_variant
BRCA-EU116067580360675803single base substitutionAGupstream_gene_variant
BRCA-EU116067669960676699single base substitutionGTupstream_gene_variant
BRCA-EU116067790660677906single base substitutionCTupstream_gene_variant
BRCA-US116066674660666746single base substitutionTGdownstream_gene_variant
BRCA-US116066674660666746single base substitutionTGintron_variant
BRCA-US116066674660666746single base substitutionTGmissense_variantT287P859A>C
BRCA-US116066674660666746single base substitutionTGupstream_gene_variant
BRCA-US116066882360668823single base substitutionCGdownstream_gene_variant
BRCA-US116066882360668823single base substitutionCGmissense_variantE196Q586G>C
BRCA-US116066882360668823single base substitutionCGmissense_variantE25Q73G>C
BRCA-US116066882360668823single base substitutionCGupstream_gene_variant
BRCA-US116066899360668993single base substitutionACmissense_variantV11G32T>G
BRCA-US116066899360668993single base substitutionACmissense_variantV182G545T>G
BRCA-US116066899360668993single base substitutionACmissense_variantV97G290T>G
BRCA-US116066899360668993single base substitutionACupstream_gene_variant
BTCA-JP116066641060666410single base substitutionAGdownstream_gene_variant
BTCA-JP116066641060666410single base substitutionAGintron_variant
BTCA-JP116066641060666410single base substitutionAGsplice_region_variant
BTCA-JP116066641060666410single base substitutionAGupstream_gene_variant
CESC-US116066634760666347single base substitutionCGdownstream_gene_variant
CESC-US116066634760666347single base substitutionCGexon_variant
CESC-US116066634760666347single base substitutionCGintron_variant
CESC-US116066634760666347single base substitutionCGmissense_variantE19D57G>C
CESC-US116066634760666347single base substitutionCGmissense_variantE347D1041G>C
CESC-US116066634760666347single base substitutionCGupstream_gene_variant
CLLE-ES116065733460657334single base substitutionGAdownstream_gene_variant
CLLE-ES116066267760662677single base substitutionAGdownstream_gene_variant
CLLE-ES116066267760662677single base substitutionAGintron_variant
CLLE-ES116066674660666746single base substitutionTGdownstream_gene_variant
CLLE-ES116066674660666746single base substitutionTGintron_variant
CLLE-ES116066674660666746single base substitutionTGmissense_variantT287P859A>C
CLLE-ES116066674660666746single base substitutionTGupstream_gene_variant
CLLE-ES116066860360668603single base substitutionACdownstream_gene_variant
CLLE-ES116066860360668603single base substitutionACintron_variant
CLLE-ES116066860360668603single base substitutionACupstream_gene_variant
CLLE-ES116067260560672605single base substitutionTCintron_variant
CLLE-ES116067260560672605single base substitutionTCupstream_gene_variant
COAD-US116067028460670284single base substitutionCTmissense_variantA106T316G>A
COAD-US116067028460670284single base substitutionCTmissense_variantA21T61G>A
COAD-US116067028460670284single base substitutionCTupstream_gene_variant
COCA-CN116065880960658809single base substitutionGTintron_variant
COCA-CN116066562060665620single base substitutionGAdownstream_gene_variant
COCA-CN116066562060665620single base substitutionGAexon_variant
COCA-CN116066562060665620single base substitutionGAintron_variant
COCA-CN116066562060665620single base substitutionGAmissense_variantR422C1264C>T
EOPC-DE116066438460664384single base substitutionATdownstream_gene_variant
EOPC-DE116066438460664384single base substitutionATintron_variant
ESAD-UK116065594560655945single base substitutionAGdownstream_gene_variant
ESAD-UK116066596660665966single base substitutionCAdownstream_gene_variant
ESAD-UK116066596660665966single base substitutionCAintron_variant
ESAD-UK116066596660665966single base substitutionCAupstream_gene_variant
ESAD-UK116066639260666392single base substitutionGAdownstream_gene_variant
ESAD-UK116066639260666392single base substitutionGAexon_variant
ESAD-UK116066639260666392single base substitutionGAintron_variant
ESAD-UK116066639260666392single base substitutionGAsynonymous_variantF332F996C>T
ESAD-UK116066639260666392single base substitutionGAsynonymous_variantF4F12C>T
ESAD-UK116066639260666392single base substitutionGAupstream_gene_variant
ESAD-UK116066918560669185single base substitutionGCintron_variant
ESAD-UK116066918560669185single base substitutionGCupstream_gene_variant
ESAD-UK116067398260673982single base substitutionGA5_prime_UTR_premature_start_codon_gain_variant
ESAD-UK116067398260673982single base substitutionGAupstream_gene_variant
ESAD-UK116067480360674803single base substitutionGCupstream_gene_variant
ESAD-UK116067525060675250single base substitutionACupstream_gene_variant
ESAD-UK116067611460676114single base substitutionAGupstream_gene_variant
ESAD-UK116067780560677805single base substitutionTAupstream_gene_variant
ESAD-UK116067789360677893single base substitutionTAupstream_gene_variant
ESAD-UK116067901560679015single base substitutionTCupstream_gene_variant
ESCA-CN116066524860665248single base substitutionTAdownstream_gene_variant
ESCA-CN116066524860665248single base substitutionTAexon_variant
ESCA-CN116066524860665248single base substitutionTAintron_variant
GBM-US116066570960665709single base substitutionGAdownstream_gene_variant
GBM-US116066570960665709single base substitutionGAexon_variant
GBM-US116066570960665709single base substitutionGAintron_variant
GBM-US116066570960665709single base substitutionGAmissense_variantS392L1175C>T
KIRC-US116065867860658678single base substitutionGAintron_variant
KIRC-US116065867860658678single base substitutionGAmissense_variantS107L320C>T
KIRC-US116065867860658678single base substitutionGAmissense_variantS492L1475C>T
KIRC-US116065869560658695single base substitutionGAintron_variant
KIRC-US116065869560658695single base substitutionGAsynonymous_variantH101H303C>T
KIRC-US116065869560658695single base substitutionGAsynonymous_variantH486H1458C>T
KIRC-US116067132960671329single base substitutionAT5_prime_UTR_variant
KIRC-US116067132960671329single base substitutionATsynonymous_variantS8S24T>A
KIRC-US116067132960671329single base substitutionATupstream_gene_variant
LICA-CN116066667560666675single base substitutionTAdownstream_gene_variant
LICA-CN116066667560666675single base substitutionTAexon_variant
LICA-CN116066667560666675single base substitutionTAintron_variant
LICA-CN116066667560666675single base substitutionTAsynonymous_variantT310T930A>T
LICA-CN116066667560666675single base substitutionTAupstream_gene_variant
LICA-FR116065775960657759single base substitutionCAdownstream_gene_variant
LICA-FR116066558860665588single base substitutionCAdownstream_gene_variant
LICA-FR116066558860665588single base substitutionCAexon_variant
LICA-FR116066558860665588single base substitutionCAintron_variant
LICA-FR116066558860665588single base substitutionCAsynonymous_variantL432L1296G>T
LICA-FR116066606560666065single base substitutionATdownstream_gene_variant
LICA-FR116066606560666065single base substitutionATexon_variant
LICA-FR116066606560666065single base substitutionATintron_variant
LICA-FR116066606560666065single base substitutionATmissense_variantL35H104T>A
LICA-FR116066606560666065single base substitutionATmissense_variantL363H1088T>A
LICA-FR116066606560666065single base substitutionATupstream_gene_variant
LICA-FR116066859960668599single base substitutionGAdownstream_gene_variant
LICA-FR116066859960668599single base substitutionGAintron_variant
LICA-FR116066859960668599single base substitutionGAupstream_gene_variant
LICA-FR116066860060668600single base substitutionCAdownstream_gene_variant
LICA-FR116066860060668600single base substitutionCAintron_variant
LICA-FR116066860060668600single base substitutionCAupstream_gene_variant
LICA-FR116067120060671200single base substitutionCT5_prime_UTR_variant
LICA-FR116067120060671200single base substitutionCTsynonymous_variantQ51Q153G>A
LICA-FR116067120060671200single base substitutionCTupstream_gene_variant
LICA-FR116067401060674010single base substitutionGC5_prime_UTR_variant
LICA-FR116067401060674010single base substitutionGCupstream_gene_variant
LINC-JP116065501060655010single base substitutionCTdownstream_gene_variant
LINC-JP116065632360656323single base substitutionCGdownstream_gene_variant
LINC-JP116065817160658171single base substitutionGAdownstream_gene_variant
LINC-JP116066280460662804single base substitutionTAdownstream_gene_variant
LINC-JP116066280460662804single base substitutionTAintron_variant
LINC-JP116066296460662964single base substitutionTGdownstream_gene_variant
LINC-JP116066296460662964single base substitutionTGintron_variant
LINC-JP116066607160666071single base substitutionTAdownstream_gene_variant
LINC-JP116066607160666071single base substitutionTAexon_variant
LINC-JP116066607160666071single base substitutionTAintron_variant
LINC-JP116066607160666071single base substitutionTAmissense_variantD33V98A>T
LINC-JP116066607160666071single base substitutionTAmissense_variantD361V1082A>T
LINC-JP116066607160666071single base substitutionTAupstream_gene_variant
LINC-JP116066624060666240single base substitutionTCdownstream_gene_variant
LINC-JP116066624060666240single base substitutionTCintron_variant
LINC-JP116066624060666240single base substitutionTCupstream_gene_variant
LINC-JP116066675360666753single base substitutionGAdownstream_gene_variant
LINC-JP116066675360666753single base substitutionGAintron_variant
LINC-JP116066675360666753single base substitutionGAsynonymous_variantP284P852C>T
LINC-JP116066675360666753single base substitutionGAupstream_gene_variant
LINC-JP116066897660668976single base substitutionTCmissense_variantK103E307A>G
LINC-JP116066897660668976single base substitutionTCmissense_variantK17E49A>G
LINC-JP116066897660668976single base substitutionTCmissense_variantK188E562A>G
LINC-JP116066897660668976single base substitutionTCupstream_gene_variant
LINC-JP116067118960671189insertion of <=200bp-A5_prime_UTR_variant
LINC-JP116067118960671189insertion of <=200bp-Aframeshift_variantI55I?
LINC-JP116067118960671189insertion of <=200bp-Aupstream_gene_variant
LINC-JP116067434660674346single base substitutionTGupstream_gene_variant
LINC-JP116067453860674538insertion of <=200bp-TGGCTTCCCupstream_gene_variant
LIRI-JP116065399360653993single base substitutionCTdownstream_gene_variant
LIRI-JP116065414560654145single base substitutionGCdownstream_gene_variant
LIRI-JP116065432960654329single base substitutionCAdownstream_gene_variant
LIRI-JP116065655860656560deletion of <=200bpAAT-downstream_gene_variant
LIRI-JP116066099060660990single base substitutionTCdownstream_gene_variant
LIRI-JP116066099060660990single base substitutionTCintron_variant
LIRI-JP116066650260666502single base substitutionGAdownstream_gene_variant
LIRI-JP116066650260666502single base substitutionGAintron_variant
LIRI-JP116066650260666502single base substitutionGAupstream_gene_variant
LIRI-JP116067278960672789single base substitutionATintron_variant
LIRI-JP116067278960672789single base substitutionATupstream_gene_variant
LIRI-JP116067324660673246single base substitutionGCintron_variant
LIRI-JP116067324660673246single base substitutionGCupstream_gene_variant
LIRI-JP116067354260673542single base substitutionGCintron_variant
LIRI-JP116067354260673542single base substitutionGCupstream_gene_variant
LIRI-JP116067646560676465single base substitutionCAupstream_gene_variant
LUSC-KR116065410360654103single base substitutionTAdownstream_gene_variant
LUSC-KR116065470960654709single base substitutionCAdownstream_gene_variant
LUSC-KR116065883360658833single base substitutionCAintron_variant
LUSC-KR116066205060662050single base substitutionGCdownstream_gene_variant
LUSC-KR116066205060662050single base substitutionGCintron_variant
LUSC-KR116066611660666116single base substitutionGTdownstream_gene_variant
LUSC-KR116066611660666116single base substitutionGTintron_variant
LUSC-KR116066611660666116single base substitutionGTupstream_gene_variant
LUSC-KR116066634160666341single base substitutionGAdownstream_gene_variant
LUSC-KR116066634160666341single base substitutionGAexon_variant
LUSC-KR116066634160666341single base substitutionGAintron_variant
LUSC-KR116066634160666341single base substitutionGAsynonymous_variantS21S63C>T
LUSC-KR116066634160666341single base substitutionGAsynonymous_variantS349S1047C>T
LUSC-KR116066634160666341single base substitutionGAupstream_gene_variant
LUSC-KR116066790760667907single base substitutionAGdownstream_gene_variant
LUSC-KR116066790760667907single base substitutionAGintron_variant
LUSC-KR116066790760667907single base substitutionAGupstream_gene_variant
LUSC-KR116067084660670846single base substitutionCTintron_variant
LUSC-KR116067084660670846single base substitutionCTupstream_gene_variant
LUSC-KR116067193560671935single base substitutionCTintron_variant
LUSC-KR116067193560671935single base substitutionCTupstream_gene_variant
LUSC-KR116067757260677572single base substitutionGAupstream_gene_variant
LUSC-US116066531860665318single base substitutionCTdownstream_gene_variant
LUSC-US116066531860665318single base substitutionCTexon_variant
LUSC-US116066531860665318single base substitutionCTintron_variant
LUSC-US116066531860665318single base substitutionCTmissense_variantE473K1417G>A
LUSC-US116066531860665318single base substitutionCTmissense_variantE88K262G>A
LUSC-US116066563660665636single base substitutionGCdownstream_gene_variant
LUSC-US116066563660665636single base substitutionGCexon_variant
LUSC-US116066563660665636single base substitutionGCintron_variant
LUSC-US116066563660665636single base substitutionGCsynonymous_variantV416V1248C>G
LUSC-US116066572260665722single base substitutionAGdownstream_gene_variant
LUSC-US116066572260665722single base substitutionAGexon_variant
LUSC-US116066572260665722single base substitutionAGintron_variant
LUSC-US116066572260665722single base substitutionAGmissense_variantF388L1162T>C
LUSC-US116067120860671208single base substitutionCA5_prime_UTR_variant
LUSC-US116067120860671208single base substitutionCAstop_gainedE49*145G>T
LUSC-US116067120860671208single base substitutionCAupstream_gene_variant
MALY-DE116066333160663331single base substitutionGAdownstream_gene_variant
MALY-DE116066333160663331single base substitutionGAintron_variant
MALY-DE116066867060668670single base substitutionGAdownstream_gene_variant
MALY-DE116066867060668670single base substitutionGAintron_variant
MALY-DE116066867060668670single base substitutionGAupstream_gene_variant
MALY-DE116067586460675864single base substitutionCGupstream_gene_variant
MELA-AU116065331360653313single base substitutionGAdownstream_gene_variant
MELA-AU116065353860653538single base substitutionGAdownstream_gene_variant
MELA-AU116065402260654022single base substitutionGAdownstream_gene_variant
MELA-AU116065413260654132single base substitutionGAdownstream_gene_variant
MELA-AU116065482560654825single base substitutionGAdownstream_gene_variant
MELA-AU116065588460655884single base substitutionGAdownstream_gene_variant
MELA-AU116065664860656648single base substitutionCTdownstream_gene_variant
MELA-AU116065680860656808single base substitutionGTdownstream_gene_variant
MELA-AU116065681060656810single base substitutionAGdownstream_gene_variant
MELA-AU116065692760656927single base substitutionGAdownstream_gene_variant
MELA-AU116065793560657935single base substitutionGAdownstream_gene_variant
MELA-AU116065800860658008single base substitutionGAdownstream_gene_variant
MELA-AU116066062860660628single base substitutionGAdownstream_gene_variant
MELA-AU116066062860660628single base substitutionGAintron_variant
MELA-AU116066103660661036single base substitutionAGdownstream_gene_variant
MELA-AU116066103660661036single base substitutionAGintron_variant
MELA-AU116066155960661559single base substitutionGAdownstream_gene_variant
MELA-AU116066155960661559single base substitutionGAintron_variant
MELA-AU116066231360662313single base substitutionGAdownstream_gene_variant
MELA-AU116066231360662313single base substitutionGAintron_variant
MELA-AU116066283160662831single base substitutionATdownstream_gene_variant
MELA-AU116066283160662831single base substitutionATintron_variant
MELA-AU116066291760662917single base substitutionGAdownstream_gene_variant
MELA-AU116066291760662917single base substitutionGAintron_variant
MELA-AU116066320560663205single base substitutionGAdownstream_gene_variant
MELA-AU116066320560663205single base substitutionGAintron_variant
MELA-AU116066401160664011single base substitutionCTdownstream_gene_variant
MELA-AU116066401160664011single base substitutionCTintron_variant
MELA-AU116066466660664666single base substitutionGAdownstream_gene_variant
MELA-AU116066466660664666single base substitutionGAintron_variant
MELA-AU116066520060665200single base substitutionGAdownstream_gene_variant
MELA-AU116066520060665200single base substitutionGAexon_variant
MELA-AU116066520060665200single base substitutionGAintron_variant
MELA-AU116066555660665556single base substitutionGAdownstream_gene_variant
MELA-AU116066555660665556single base substitutionGAintron_variant
MELA-AU116066653960666540multiple base substitution (>=2bp and <=200bp)GGAAdownstream_gene_variant
MELA-AU116066653960666540multiple base substitution (>=2bp and <=200bp)GGAAintron_variant
MELA-AU116066653960666540multiple base substitution (>=2bp and <=200bp)GGAAupstream_gene_variant
MELA-AU116066658060666580single base substitutionGAdownstream_gene_variant
MELA-AU116066658060666580single base substitutionGAintron_variant
MELA-AU116066658060666580single base substitutionGAupstream_gene_variant
MELA-AU116066681860666818single base substitutionGAdownstream_gene_variant
MELA-AU116066681860666818single base substitutionGAintron_variant
MELA-AU116066681860666818single base substitutionGAupstream_gene_variant
MELA-AU116066706560667065single base substitutionGAdownstream_gene_variant
MELA-AU116066706560667065single base substitutionGAintron_variant
MELA-AU116066706560667065single base substitutionGAupstream_gene_variant
MELA-AU116066751960667519single base substitutionAGdownstream_gene_variant
MELA-AU116066751960667519single base substitutionAGintron_variant
MELA-AU116066751960667519single base substitutionAGupstream_gene_variant
MELA-AU116066766360667663single base substitutionGAdownstream_gene_variant
MELA-AU116066766360667663single base substitutionGAintron_variant
MELA-AU116066766360667663single base substitutionGAupstream_gene_variant
MELA-AU116066785260667852single base substitutionGAdownstream_gene_variant
MELA-AU116066785260667852single base substitutionGAintron_variant
MELA-AU116066785260667852single base substitutionGAupstream_gene_variant
MELA-AU116066785660667856single base substitutionGAdownstream_gene_variant
MELA-AU116066785660667856single base substitutionGAintron_variant
MELA-AU116066785660667856single base substitutionGAupstream_gene_variant
MELA-AU116067015760670157single base substitutionGAintron_variant
MELA-AU116067015760670157single base substitutionGAupstream_gene_variant
MELA-AU116067048660670486single base substitutionGCintron_variant
MELA-AU116067048660670486single base substitutionGCupstream_gene_variant
MELA-AU116067059060670590single base substitutionCTintron_variant
MELA-AU116067059060670590single base substitutionCTupstream_gene_variant
MELA-AU116067086160670861single base substitutionCTintron_variant
MELA-AU116067086160670861single base substitutionCTupstream_gene_variant
MELA-AU116067101860671018single base substitutionGAintron_variant
MELA-AU116067101860671018single base substitutionGAupstream_gene_variant
MELA-AU116067220860672208single base substitutionGAintron_variant
MELA-AU116067220860672208single base substitutionGAupstream_gene_variant
MELA-AU116067234460672344single base substitutionGAintron_variant
MELA-AU116067234460672344single base substitutionGAupstream_gene_variant
MELA-AU116067273260672732single base substitutionGTintron_variant
MELA-AU116067273260672732single base substitutionGTupstream_gene_variant
MELA-AU116067279460672794single base substitutionGAintron_variant
MELA-AU116067279460672794single base substitutionGAupstream_gene_variant
MELA-AU116067303260673032single base substitutionGAintron_variant
MELA-AU116067303260673032single base substitutionGAupstream_gene_variant
MELA-AU116067380060673800single base substitutionTCintron_variant
MELA-AU116067380060673800single base substitutionTCupstream_gene_variant
MELA-AU116067408960674089single base substitutionGAupstream_gene_variant
MELA-AU116067409260674092single base substitutionCTupstream_gene_variant
MELA-AU116067410060674100single base substitutionGAupstream_gene_variant
MELA-AU116067411660674116single base substitutionCTupstream_gene_variant
MELA-AU116067413260674132single base substitutionCTupstream_gene_variant
MELA-AU116067430660674306single base substitutionGCupstream_gene_variant
MELA-AU116067440960674409single base substitutionGCupstream_gene_variant
MELA-AU116067446160674461single base substitutionGAupstream_gene_variant
MELA-AU116067452460674524single base substitutionGCupstream_gene_variant
MELA-AU116067471060674710single base substitutionCTupstream_gene_variant
MELA-AU116067482460674824single base substitutionGAupstream_gene_variant
MELA-AU116067487260674872single base substitutionGCupstream_gene_variant
MELA-AU116067521460675214single base substitutionGCupstream_gene_variant
MELA-AU116067537960675379single base substitutionGAupstream_gene_variant
MELA-AU116067537960675379single base substitutionGCupstream_gene_variant
MELA-AU116067558460675584single base substitutionGAupstream_gene_variant
MELA-AU116067575660675756single base substitutionGAupstream_gene_variant
MELA-AU116067589560675895single base substitutionGAupstream_gene_variant
MELA-AU116067589560675895single base substitutionGCupstream_gene_variant
MELA-AU116067592260675922single base substitutionGAupstream_gene_variant
MELA-AU116067595060675950single base substitutionGAupstream_gene_variant
MELA-AU116067600160676001single base substitutionGCupstream_gene_variant
MELA-AU116067614460676144single base substitutionGTupstream_gene_variant
MELA-AU116067618260676182single base substitutionGAupstream_gene_variant
MELA-AU116067624560676245single base substitutionGAupstream_gene_variant
MELA-AU116067625260676252single base substitutionGAupstream_gene_variant
MELA-AU116067625860676258single base substitutionGAupstream_gene_variant
MELA-AU116067628260676282single base substitutionGAupstream_gene_variant
MELA-AU116067637060676370single base substitutionGAupstream_gene_variant
MELA-AU116067642260676423multiple base substitution (>=2bp and <=200bp)GGAAupstream_gene_variant
MELA-AU116067645560676455single base substitutionGAupstream_gene_variant
MELA-AU116067652260676522single base substitutionGCupstream_gene_variant
MELA-AU116067670060676700single base substitutionGAupstream_gene_variant
MELA-AU116067673960676739single base substitutionGAupstream_gene_variant
MELA-AU116067681060676810single base substitutionCTupstream_gene_variant
MELA-AU116067757260677572single base substitutionGAupstream_gene_variant
MELA-AU116067762960677629single base substitutionCTupstream_gene_variant
MELA-AU116067775460677754single base substitutionGAupstream_gene_variant
MELA-AU116067776260677762single base substitutionCTupstream_gene_variant
MELA-AU116067780060677800single base substitutionGAupstream_gene_variant
MELA-AU116067791960677919single base substitutionCTupstream_gene_variant
MELA-AU116067796460677964single base substitutionCTupstream_gene_variant
MELA-AU116067821360678213single base substitutionGAupstream_gene_variant
MELA-AU116067827060678270single base substitutionGAupstream_gene_variant
MELA-AU116067835560678355single base substitutionGAupstream_gene_variant
MELA-AU116067836560678365single base substitutionGAupstream_gene_variant
MELA-AU116067854660678546single base substitutionCTupstream_gene_variant
MELA-AU116067857060678570single base substitutionCTupstream_gene_variant
MELA-AU116067900360679003single base substitutionGAupstream_gene_variant
ORCA-IN116067027560670275single base substitutionGAstop_gainedQ109*325C>T
ORCA-IN116067027560670275single base substitutionGAstop_gainedQ24*70C>T
ORCA-IN116067027560670275single base substitutionGAupstream_gene_variant
OV-AU116065458560654585single base substitutionGAdownstream_gene_variant
OV-AU116065638860656388single base substitutionCAdownstream_gene_variant
OV-AU116065665360656653single base substitutionCAdownstream_gene_variant
OV-AU116066039960660399single base substitutionCTdownstream_gene_variant
OV-AU116066039960660399single base substitutionCTintron_variant
OV-AU116066721660667216single base substitutionGAdownstream_gene_variant
OV-AU116066721660667216single base substitutionGAintron_variant
OV-AU116066721660667216single base substitutionGAupstream_gene_variant
OV-AU116066772460667724single base substitutionGAdownstream_gene_variant
OV-AU116066772460667724single base substitutionGAintron_variant
OV-AU116066772460667724single base substitutionGAupstream_gene_variant
OV-AU116066819860668198single base substitutionAGdownstream_gene_variant
OV-AU116066819860668198single base substitutionAGintron_variant
OV-AU116066819860668198single base substitutionAGupstream_gene_variant
OV-AU116067838860678388single base substitutionGTupstream_gene_variant
PACA-AU116065638160656381single base substitutionACdownstream_gene_variant
PACA-AU116065672560656725single base substitutionCTdownstream_gene_variant
PACA-AU116065686360656863single base substitutionCGdownstream_gene_variant
PACA-AU116066068960660689single base substitutionCTdownstream_gene_variant
PACA-AU116066068960660689single base substitutionCTintron_variant
PACA-AU116066321460663214single base substitutionCTdownstream_gene_variant
PACA-AU116066321460663214single base substitutionCTintron_variant
PACA-AU116066509660665096single base substitutionCAdownstream_gene_variant
PACA-AU116066509660665096single base substitutionCAexon_variant
PACA-AU116066509660665096single base substitutionCAintron_variant
PACA-AU116066509760665097single base substitutionTCdownstream_gene_variant
PACA-AU116066509760665097single base substitutionTCexon_variant
PACA-AU116066509760665097single base substitutionTCintron_variant
PACA-AU116067757260677572single base substitutionGAupstream_gene_variant
PACA-CA116065330160653301single base substitutionCTdownstream_gene_variant
PACA-CA116065706360657063single base substitutionGAdownstream_gene_variant
PACA-CA116066528760665287single base substitutionGAdownstream_gene_variant
PACA-CA116066528760665287single base substitutionGAexon_variant
PACA-CA116066528760665287single base substitutionGAintron_variant
PACA-CA116066879560668795single base substitutionCTdownstream_gene_variant
PACA-CA116066879560668795single base substitutionCTmissense_variantS205N614G>A
PACA-CA116066879560668795single base substitutionCTmissense_variantS34N101G>A
PACA-CA116066879560668795single base substitutionCTupstream_gene_variant
PACA-CA116067285760672857single base substitutionCT5_prime_UTR_variant
PACA-CA116067285760672857single base substitutionCTintron_variant
PACA-CA116067285760672857single base substitutionCTupstream_gene_variant
PACA-CA116067287660672876single base substitutionTC5_prime_UTR_variant
PACA-CA116067287660672876single base substitutionTCintron_variant
PACA-CA116067287660672876single base substitutionTCupstream_gene_variant
PACA-CA116067368260673682insertion of <=200bp-Gintron_variant
PACA-CA116067368260673682insertion of <=200bp-Gupstream_gene_variant
PACA-CA116067624060676242deletion of <=200bpAAG-upstream_gene_variant
PBCA-DE116065874560658749deletion of <=200bpAAGAT-intron_variant
PRAD-CA116065795060657950single base substitutionAGdownstream_gene_variant
PRAD-US116065869560658695single base substitutionGAintron_variant
PRAD-US116065869560658695single base substitutionGAsynonymous_variantH101H303C>T
PRAD-US116065869560658695single base substitutionGAsynonymous_variantH486H1458C>T
PRAD-US116066606960666069single base substitutionCAdownstream_gene_variant
PRAD-US116066606960666069single base substitutionCAexon_variant
PRAD-US116066606960666069single base substitutionCAintron_variant
PRAD-US116066606960666069single base substitutionCAstop_gainedG34*100G>T
PRAD-US116066606960666069single base substitutionCAstop_gainedG362*1084G>T
PRAD-US116066606960666069single base substitutionCAupstream_gene_variant
READ-US116066666960666669single base substitutionGAdownstream_gene_variant
READ-US116066666960666669single base substitutionGAexon_variant
READ-US116066666960666669single base substitutionGAintron_variant
READ-US116066666960666669single base substitutionGAsynonymous_variantL312L936C>T
READ-US116066666960666669single base substitutionGAupstream_gene_variant
RECA-EU116067036760670367single base substitutionACintron_variant
RECA-EU116067036760670367single base substitutionACupstream_gene_variant
RECA-EU116067645560676455single base substitutionGTupstream_gene_variant
SKCA-BR116065398660653986single base substitutionCTdownstream_gene_variant
SKCA-BR116065455360654593deletion of <=200bpTAGCATGAGGAGATATACCTAATGTAAATGACGAGTTAACG-downstream_gene_variant
SKCA-BR116066097560660975insertion of <=200bp-CAdownstream_gene_variant
SKCA-BR116066097560660975insertion of <=200bp-CAintron_variant
SKCA-BR116066184160661841single base substitutionATdownstream_gene_variant
SKCA-BR116066184160661841single base substitutionATintron_variant
SKCA-BR116066296460662964single base substitutionTGdownstream_gene_variant
SKCA-BR116066296460662964single base substitutionTGintron_variant
SKCA-BR116066338260663382single base substitutionAGdownstream_gene_variant
SKCA-BR116066338260663382single base substitutionAGintron_variant
SKCA-BR116067105260671052single base substitutionTCintron_variant
SKCA-BR116067105260671052single base substitutionTCupstream_gene_variant
SKCA-BR116067202460672024single base substitutionCTintron_variant
SKCA-BR116067202460672024single base substitutionCTupstream_gene_variant
SKCA-BR116067499260674992insertion of <=200bp-TACupstream_gene_variant
SKCA-BR116067502660675030deletion of <=200bpCACAT-upstream_gene_variant
SKCA-BR116067591760675917single base substitutionGAupstream_gene_variant
SKCA-BR116067797360677973single base substitutionCTupstream_gene_variant
SKCA-BR116067800560678005single base substitutionCTupstream_gene_variant
SKCM-US116066669860666698single base substitutionGAdownstream_gene_variant
SKCM-US116066669860666698single base substitutionGAintron_variant
SKCM-US116066669860666698single base substitutionGAmissense_variantR303W907C>T
SKCM-US116066669860666698single base substitutionGAupstream_gene_variant
SKCM-US116066884060668840single base substitutionCTdownstream_gene_variant
SKCM-US116066884060668840single base substitutionCTmissense_variantR190K569G>A
SKCM-US116066884060668840single base substitutionCTmissense_variantR19K56G>A
SKCM-US116066884060668840single base substitutionCTupstream_gene_variant
SKCM-US116067133060671330single base substitutionGA5_prime_UTR_variant
SKCM-US116067133060671330single base substitutionGAmissense_variantS8F23C>T
SKCM-US116067133060671330single base substitutionGAupstream_gene_variant
STAD-US116066561960665619single base substitutionCTdownstream_gene_variant
STAD-US116066561960665619single base substitutionCTexon_variant
STAD-US116066561960665619single base substitutionCTintron_variant
STAD-US116066561960665619single base substitutionCTmissense_variantR422H1265G>A
STAD-US116066606760666067single base substitutionTCdownstream_gene_variant
STAD-US116066606760666067single base substitutionTCexon_variant
STAD-US116066606760666067single base substitutionTCintron_variant
STAD-US116066606760666067single base substitutionTCsynonymous_variantG34G102A>G
STAD-US116066606760666067single base substitutionTCsynonymous_variantG362G1086A>G
STAD-US116066606760666067single base substitutionTCupstream_gene_variant
STAD-US116066609360666093single base substitutionTCdownstream_gene_variant
STAD-US116066609360666093single base substitutionTCexon_variant
STAD-US116066609360666093single base substitutionTCintron_variant
STAD-US116066609360666093single base substitutionTCmissense_variantT26A76A>G
STAD-US116066609360666093single base substitutionTCmissense_variantT354A1060A>G
STAD-US116066609360666093single base substitutionTCupstream_gene_variant
STAD-US116067021760670217single base substitutionCTmissense_variantR128Q383G>A
STAD-US116067021760670217single base substitutionCTmissense_variantR43Q128G>A
STAD-US116067021760670217single base substitutionCTupstream_gene_variant
STAD-US116067030160670301single base substitutionCTmissense_variantR100H299G>A
STAD-US116067030160670301single base substitutionCTmissense_variantR15H44G>A
STAD-US116067030160670301single base substitutionCTupstream_gene_variant
STAD-US116067096160670961single base substitutionCT5_prime_UTR_variant
STAD-US116067096160670961single base substitutionCTsynonymous_variantP72P216G>A
STAD-US116067096160670961single base substitutionCTupstream_gene_variant
STAD-US116067132960671330deletion of <=200bpAG-5_prime_UTR_variant
STAD-US116067132960671330deletion of <=200bpAG-frameshift_variantS8
STAD-US116067132960671330deletion of <=200bpAG-upstream_gene_variant
THCA-SA116066634160666341single base substitutionGAdownstream_gene_variant
THCA-SA116066634160666341single base substitutionGAexon_variant
THCA-SA116066634160666341single base substitutionGAintron_variant
THCA-SA116066634160666341single base substitutionGAsynonymous_variantS21S63C>T
THCA-SA116066634160666341single base substitutionGAsynonymous_variantS349S1047C>T
THCA-SA116066634160666341single base substitutionGAupstream_gene_variant
THCA-SA116067386860673868single base substitutionTC5_prime_UTR_variant
THCA-SA116067386860673868single base substitutionTCupstream_gene_variant
UCEC-US116066573960665739single base substitutionCTdownstream_gene_variant
UCEC-US116066573960665739single base substitutionCTexon_variant
UCEC-US116066573960665739single base substitutionCTintron_variant
UCEC-US116066573960665739single base substitutionCTmissense_variantR382H1145G>A
UCEC-US116066602560666025single base substitutionGTdownstream_gene_variant
UCEC-US116066602560666025single base substitutionGTexon_variant
UCEC-US116066602560666025single base substitutionGTintron_variant
UCEC-US116066602560666025single base substitutionGTsynonymous_variantI248I744C>A
UCEC-US116066602560666025single base substitutionGTsynonymous_variantI376I1128C>A
UCEC-US116066602560666025single base substitutionGTsynonymous_variantI48I144C>A
UCEC-US116066602560666025single base substitutionGTupstream_gene_variant
UCEC-US116066605160666051single base substitutionCAdownstream_gene_variant
UCEC-US116066605160666051single base substitutionCAexon_variant
UCEC-US116066605160666051single base substitutionCAintron_variant
UCEC-US116066605160666051single base substitutionCAsplice_acceptor_variant
UCEC-US116066605160666051single base substitutionCAstop_gainedG368*1102G>T
UCEC-US116066605160666051single base substitutionCAstop_gainedG40*118G>T
UCEC-US116066605160666051single base substitutionCAupstream_gene_variant
UCEC-US116066673760666737single base substitutionTCdownstream_gene_variant
UCEC-US116066673760666737single base substitutionTCintron_variant
UCEC-US116066673760666737single base substitutionTCmissense_variantI290V868A>G
UCEC-US116066673760666737single base substitutionTCupstream_gene_variant
UCEC-US116066675360666753single base substitutionGAdownstream_gene_variant
UCEC-US116066675360666753single base substitutionGAintron_variant
UCEC-US116066675360666753single base substitutionGAsynonymous_variantP284P852C>T
UCEC-US116066675360666753single base substitutionGAupstream_gene_variant
UCEC-US116066809560668095single base substitutionGTdownstream_gene_variant
UCEC-US116066809560668095single base substitutionGTintron_variant
UCEC-US116066809560668095single base substitutionGTmissense_variantH263N787C>A
UCEC-US116066809560668095single base substitutionGTupstream_gene_variant
UCEC-US116066814360668143single base substitutionCTdownstream_gene_variant
UCEC-US116066814360668143single base substitutionCTintron_variant
UCEC-US116066814360668143single base substitutionCTmissense_variantV247I739G>A
UCEC-US116066814360668143single base substitutionCTupstream_gene_variant
UCEC-US116066815760668157single base substitutionGAdownstream_gene_variant
UCEC-US116066815760668157single base substitutionGAintron_variant
UCEC-US116066815760668157single base substitutionGAmissense_variantA242V725C>T
UCEC-US116066815760668157single base substitutionGAupstream_gene_variant
UCEC-US116067031860670318single base substitutionCAmissense_variantQ94H282G>T
UCEC-US116067031860670318single base substitutionCAmissense_variantQ9H27G>T
UCEC-US116067031860670318single base substitutionCAupstream_gene_variant
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
S02348COSM5694433c.984+3G>Tp.?Unknown11:60899146-60899146-
S00830COSM317921c.954C>Tp.G318GSubstitution - coding silent11:60899179-60899179-
TCGA-BR-8363-01COSM4034476c.299G>Ap.R100HSubstitution - Missense11:60902829-60902829-
I2L-P19Ta-Tumor-OrganoidCOSM5360400c.985-8_985-7delTTp.?Unknown11:60898938-60898939-
CSCC-35-TCOSM4550282c.496G>Ap.V166MSubstitution - Missense11:60902432-60902432-
OSCC-GB_00970111COSM336396c.325C>Tp.Q109*Substitution - Nonsense11:60902803-60902803-
TCGA-AA-A01K-01COSM301540c.84_85GC>AGp.R28>?Complex11:60903796-60903797-
YUKATCOSM5372970c.267C>Tp.S89SSubstitution - coding silent11:60902861-60902861-
TCGA-G9-6329-01COSM3670818c.1084G>Tp.G362*Substitution - Nonsense11:60898597-60898597-
TCGA-CF-A1HR-01COSM415516c.28G>Ap.E10KSubstitution - Missense11:60903853-60903853-
CLL030COSM1289581c.450A>Gp.Q150QSubstitution - coding silent11:60902595-60902595-
TCGA-BS-A0UA-01COSM929321c.739G>Ap.V247ISubstitution - Missense11:60900671-60900671-
TCGA-AP-A059-01COSM929323c.282G>Tp.Q94HSubstitution - Missense11:60902846-60902846-
H2009COSM1193774c.998C>Gp.S333CSubstitution - Missense11:60898918-60898918-
T368COSM4717975c.1054T>Cp.S352PSubstitution - Missense11:60898862-60898862-
PCSI_0083_Pa_P_526COSM3788011c.614G>Ap.S205NSubstitution - Missense11:60901323-60901323-
TCGA-AA-3984-01COSM297903c.1441G>Ap.V481MSubstitution - Missense11:60891240-60891240-
TCGA-D1-A15X-01COSM929320c.787C>Ap.H263NSubstitution - Missense11:60900623-60900623-
TCGA-DY-A1DG-01COSM1561315c.936C>Tp.L312LSubstitution - coding silent11:60899197-60899197-
TCGA-AK-3451-01COSM467072c.1475C>Tp.S492LSubstitution - Missense11:60891206-60891206-
197-01-3TDCOSM145822c.859A>Cp.T287PSubstitution - Missense11:60899274-60899274-
S00830COSM317921c.954C>Tp.G318GSubstitution - coding silent11:60899179-60899179-
HCC77TCOSM1604839c.1082A>Tp.D361VSubstitution - Missense11:60898599-60898599-
TCGA-56-5898-01COSM689375c.1162T>Cp.F388LSubstitution - Missense11:60898250-60898250-
CSCC-44-TCOSM4550450c.500G>Ap.G167ESubstitution - Missense11:60902428-60902428-
HCC107TCOSM929319c.852C>Tp.P284PSubstitution - coding silent11:60899281-60899281-
TCGA-22-4595-01COSM689377c.1417G>Ap.E473KSubstitution - Missense11:60897846-60897846-
TCGA-76-4931-01COSM3397953c.1175C>Tp.S392LSubstitution - Missense11:60898237-60898237-
YURIFCOSM1704102c.887C>Tp.A296VSubstitution - Missense11:60899246-60899246-
CSCC-62-TCOSM4514351c.971C>Tp.S324FSubstitution - Missense11:60899162-60899162-
HCC36COSM1604840c.562A>Gp.K188ESubstitution - Missense11:60901504-60901504-
HCC77COSM1604839c.1082A>Tp.D361VSubstitution - Missense11:60898599-60898599-
PTC-7CCOSM4145947c.356G>Tp.R119LSubstitution - Missense11:60902772-60902772-
TCGA-B5-A11E-01COSM929317c.1102G>Tp.G368*Substitution - Nonsense11:60898579-60898579-
HCC2998COSM1676075c.331G>Ap.D111NSubstitution - Missense11:60902797-60902797-
TCGA-CU-A3YL-01COSM3791646c.119A>Gp.D40GSubstitution - Missense11:60903762-60903762-
TCGA-FS-A1ZK-06COSM3450545c.569G>Ap.R190KSubstitution - Missense11:60901368-60901368-
CLL120COSM1289580c.1016G>Ap.R339HSubstitution - Missense11:60898900-60898900-
CHC1207TCOSM4800157c.1296G>Tp.L432LSubstitution - coding silent11:60898116-60898116-
NB-1613COSM145822c.859A>Cp.T287PSubstitution - Missense11:60899274-60899274-
HCC147TCOSM5811634c.930A>Tp.T310TSubstitution - coding silent11:60899203-60899203-
PT27COSM2036616c.907C>Tp.R303WSubstitution - Missense11:60899226-60899226-
HT115COSM2036608c.1264C>Tp.R422CSubstitution - Missense11:60898148-60898148-
TCGA-CZ-5462-01COSM467074c.24T>Ap.S8SSubstitution - coding silent11:60903857-60903857-
CHC892TCOSM4959842c.153G>Ap.Q51QSubstitution - coding silent11:60903728-60903728-
LUAD-YINHDCOSM348488c.1467C>Ap.F489LSubstitution - Missense11:60891214-60891214-
CHC1191TCOSM4756219c.1088T>Ap.L363HSubstitution - Missense11:60898593-60898593-
I2L-P19Tb-Tumor-OrganoidCOSM1180761c.985-7delTp.?Unknown11:60898938-60898938-
2328683COSM4972142c.1372C>Gp.Q458ESubstitution - Missense11:60897891-60897891-
PDA_062COSM5001206c.35C>Tp.P12LSubstitution - Missense11:60903846-60903846-
S01873COSM5672038c.1314A>Gp.V438VSubstitution - coding silent11:60897949-60897949-
PD6722aCOSM5778842c.389-3C>Gp.?Unknown11:60902659-60902659-
PT55COSM2036616c.907C>Tp.R303WSubstitution - Missense11:60899226-60899226-
326_CLMCOSM5753737c.1469T>Ap.I490NSubstitution - Missense11:60891212-60891212-
1N36-VS-1T36COSM4974889c.813G>Tp.V271VSubstitution - coding silent11:60900597-60900597-
HL-60COSM1676074c.607G>Tp.E203*Substitution - Nonsense11:60901330-60901330-
TCGA-09-2050-01COSM79026c.589G>Tp.E197*Substitution - Nonsense11:60901348-60901348-
pfg043TCOSM4756219c.1088T>Ap.L363HSubstitution - Missense11:60898593-60898593-
3N33-VS-3T33COSM4980862c.858C>Gp.A286ASubstitution - coding silent11:60899275-60899275-
BK0043COSM4187510c.244T>Cp.W82RSubstitution - Missense11:60903461-60903461-
CHC1207TCOSM4800157c.1296G>Tp.L432LSubstitution - coding silent11:60898116-60898116-
TCGA-B5-A11Q-01COSM929322c.725C>Tp.A242VSubstitution - Missense11:60900685-60900685-
TCGA-AG-A02G-01COSM290588c.375T>Cp.T125TSubstitution - coding silent11:60902753-60902753-
46MCOSM5588730c.1450G>Tp.G484WSubstitution - Missense11:60891231-60891231-
CSCC-49-TCOSM4457725c.1057C>Tp.L353FSubstitution - Missense11:60898624-60898624-
LIM2551COSM4643566c.118G>Ap.D40NSubstitution - Missense11:60903763-60903763-
TCGA-BR-8487-01COSM4034477c.216G>Ap.P72PSubstitution - coding silent11:60903489-60903489-
HCC29TCOSM1604841c.164_165insTp.K56fs*26Insertion - Frameshift11:60903716-60903717-
TCGA-D1-A103-01COSM929316c.1128C>Ap.I376ISubstitution - coding silent11:60898553-60898553-
CHC892TCOSM4959842c.153G>Ap.Q51QSubstitution - coding silent11:60903728-60903728-
2171668COSM4423227c.1472C>Gp.A491GSubstitution - Missense11:60891209-60891209-
HCT15COSM2036619c.622C>Ap.R208RSubstitution - coding silent11:60901315-60901315-
PD4955aCOSM5795872c.1226C>Tp.T409ISubstitution - Missense11:60898186-60898186-
587226COSM1180761c.985-7delTp.?Unknown11:60898938-60898938-
YUDEDECOSM1704103c.91G>Ap.E31KSubstitution - Missense11:60903790-60903790-
TCGA-FU-A3TX-01COSM4849320c.1041G>Cp.E347DSubstitution - Missense11:60898875-60898875-
T16COSM467073c.1458C>Tp.H486HSubstitution - coding silent11:60891223-60891223-
HCC2998COSM1676075c.331G>Ap.D111NSubstitution - Missense11:60902797-60902797-
TCGA-BH-A0DP-01COSM145822c.859A>Cp.T287PSubstitution - Missense11:60899274-60899274-
CHC1191TCOSM4756219c.1088T>Ap.L363HSubstitution - Missense11:60898593-60898593-
TCGA-A6-6781-01COSM1355137c.316G>Ap.A106TSubstitution - Missense11:60902812-60902812-
TCGA-AP-A051-01COSM929318c.868A>Gp.I290VSubstitution - Missense11:60899265-60899265-
TCGA-D1-A15X-01COSM929319c.852C>Tp.P284PSubstitution - coding silent11:60899281-60899281-
TCGA-BR-8360-01COSM4034473c.1086A>Gp.G362GSubstitution - coding silent11:60898595-60898595-
197COSM145822c.859A>Cp.T287PSubstitution - Missense11:60899274-60899274-
Pat_06_ACOSM5838932c.382C>Tp.R128*Substitution - Nonsense11:60902746-60902746-
TCGA-BR-8680-01COSM4034472c.1265G>Ap.R422HSubstitution - Missense11:60898147-60898147-
pfg062TCOSM4756218c.1280T>Gp.F427CSubstitution - Missense11:60898132-60898132-
TCGA-BH-A0B6-01COSM2036621c.586G>Cp.E196QSubstitution - Missense11:60901351-60901351-
SW837COSM2036625c.279C>Tp.R93RSubstitution - coding silent11:60902849-60902849-
T3724COSM4717974c.1183A>Gp.I395VSubstitution - Missense11:60898229-60898229-
TCGA-BR-4184-01COSM4034474c.1060A>Gp.T354ASubstitution - Missense11:60898621-60898621-
TCGA-QU-A6IN-01COSM467073c.1458C>Tp.H486HSubstitution - coding silent11:60891223-60891223-
ID46COSM145822c.859A>Cp.T287PSubstitution - Missense11:60899274-60899274-
2530678COSM5885596c.842C>Tp.S281FSubstitution - Missense11:60899291-60899291-
LUAD-B02594COSM336396c.325C>Tp.Q109*Substitution - Nonsense11:60902803-60902803-
BD72TCOSM5159964c.985-7T>Cp.?Unknown11:60898938-60898938-
YUROGCOSM415516c.28G>Ap.E10KSubstitution - Missense11:60903853-60903853-
TCGA-BH-A1F5-01COSM1475611c.545T>Gp.V182GSubstitution - Missense11:60901521-60901521-
TCGA-BR-4184-01COSM4034475c.383G>Ap.R128QSubstitution - Missense11:60902745-60902745-
TCGA-EE-A2GM-06COSM3450546c.23C>Tp.S8FSubstitution - Missense11:60903858-60903858-
TCGA-BP-4963-01COSM467073c.1458C>Tp.H486HSubstitution - coding silent11:60891223-60891223-
TCGA-18-3421-01COSM689376c.1248C>Gp.V416VSubstitution - coding silent11:60898164-60898164-
TCGA-D1-A103-01COSM929315c.1145G>Ap.R382HSubstitution - Missense11:60898267-60898267-
TCGA-18-5592-01COSM689373c.145G>Tp.E49*Substitution - Nonsense11:60903736-60903736-
HCC36TCOSM1604840c.562A>Gp.K188ESubstitution - Missense11:60901504-60901504-
LC_S11COSM1188251c.1357G>Tp.G453WSubstitution - Missense11:60897906-60897906-
19COSM5747255c.467C>Tp.A156VSubstitution - Missense11:60902461-60902461-
PR-01-2492COSM246793c.803C>Gp.T268SSubstitution - Missense11:60900607-60900607-
TCGA-EB-A3HV-01COSM2036616c.907C>Tp.R303WSubstitution - Missense11:60899226-60899226-
HCC107COSM929319c.852C>Tp.P284PSubstitution - coding silent11:60899281-60899281-
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.50270511q12.26083302430023|CGAP|BC008719|A/G|non-coding||188|Validated;
2430023|CGAP|BC018665|A/G|non-coding||188|Validated;
2430023|CGAP|BC018698|A/G|non-coding||188|Validated
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
ACMissensep.V182Gc.545T>G1160668993BRCA
A-Frameshiftp.S440Hfs*2c.1318delT1160665417COREAD
AGMissensep.F388Lc.1162T>C1160665722LUSC
AGSynonymousp.T125Tc.375T>C1160670225COREAD
ATSynonymousp.S8Sc.24T>A1160671329RCCC
CA3-UTRSNV.c.1512+28G>T1160658613CM
CANonsensep.E197*c.589G>T1160668820OV
CANonsensep.E49*c.145G>T1160671208LUSC
CANonsensep.G362*c.1084G>T1160666069PRAD
-CIntronicInsertion.c.246+71dupG1160670860ESCA
CTMissensep.E10Kc.28G>A1160671325BLCA
CTMissensep.E473Kc.1417G>A1160665318LUSC
CTMissensep.G476Dc.1427G>A1160658726LUAD
CTMissensep.R190Kc.569G>A1160668840CM
CTMissensep.R339Hc.1016G>A1160666372CLL
CTMissensep.V247Ic.739G>A1160668143UCEC
GAIntronicSNV.c.247-143C>T1160670496PIA
GAMissensep.A242Vc.725C>T1160668157UCEC
GAMissensep.R303Wc.907C>T1160666698CM
GAMissensep.S392Lc.1175C>T1160665709GBM
GAMissensep.S492Lc.1475C>T1160658678RCCC
GAMissensep.S8Fc.23C>T1160671330CM
GASynonymousp.G318Gc.954C>T1160666651SCLC
GASynonymousp.H486Hc.1458C>T1160658695PRAD
GASynonymousp.H486Hc.1458C>T1160658695RCCC
GCCTMissensep.L29Vc.84_85delinsAG1160671268COREAD
GCSynonymousp.V416Vc.1248C>G1160665636LUSC
TAMissensep.S89Cc.265A>T1160670335LUAD
TCIntronicSNV.c.19+1231A>G1160672605CLL
TCSynonymousp.Q150Qc.450A>G1160670067CLL