KBTBD2
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA73290914232909142+SilentSNPGGATCGA-CF-A47V-01A-11D-A23U-08TCGA-CF-A47V-10A-01D-A23U-08g.chr7:32909142G>Ac.1687C>Tc.(1687-1689)Ctg>Ttgp.L563L
BLCA73290974532909745+Missense_MutationSNPGGATCGA-XF-A9T5-01A-11D-A42E-08TCGA-XF-A9T5-10A-01D-A42H-08g.chr7:32909745G>Ac.1084C>Tc.(1084-1086)Cca>Tcap.P362S
BLCA73290979732909797+SilentSNPGGATCGA-E5-A4TZ-01A-11D-A31L-08TCGA-E5-A4TZ-10B-01D-A31J-08g.chr7:32909797G>Ac.1032C>Tc.(1030-1032)ttC>ttTp.F344F
BLCA73290988032909880+Missense_MutationSNPCCGTCGA-G2-A2EO-01A-11D-A17V-08TCGA-G2-A2EO-11A-21D-A17V-08g.chr7:32909880C>Gc.949G>Cc.(949-951)Gat>Catp.D317H
BLCA73291016732910167+Missense_MutationSNPCCGTCGA-GU-AATQ-01A-11D-A391-08TCGA-GU-AATQ-10A-01D-A394-08g.chr7:32910167C>Gc.662G>Cc.(661-663)aGa>aCap.R221T
BLCA73291016932910169+Missense_MutationSNPGGCTCGA-XF-A9SI-01A-11D-A391-08TCGA-XF-A9SI-10A-01D-A394-08g.chr7:32910169G>Cc.660C>Gc.(658-660)atC>atGp.I220M
BLCA73291036432910364+Missense_MutationSNPCCTTCGA-UY-A9PH-01A-11D-A38G-08TCGA-UY-A9PH-10A-01D-A38J-08g.chr7:32910364C>Tc.465G>Ac.(463-465)atG>atAp.M155I
BLCA73291464832914648+Missense_MutationSNPCCTTCGA-ZF-A9RC-01A-11D-A38G-08TCGA-ZF-A9RC-10A-01D-A38J-08g.chr7:32914648C>Tc.292G>Ac.(292-294)Gac>Aacp.D98N
BLCA73291474432914744+Missense_MutationSNPCCTTCGA-DK-A3WW-01A-22D-A23M-08TCGA-DK-A3WW-10A-01D-A23K-08g.chr7:32914744C>Tc.196G>Ac.(196-198)Gaa>Aaap.E66K
BRCA73290899532908995+Missense_MutationSNPCCGTCGA-D8-A1J8-01A-11D-A13L-09TCGA-D8-A1J8-10A-01D-A13O-09g.chr7:32908995C>Gc.1834G>Cc.(1834-1836)Gaa>Caap.E612Q
BRCA73291025532910255+Missense_MutationSNPCCTTCGA-C8-A275-01A-21D-A16D-09TCGA-C8-A275-10A-01D-A16D-09g.chr7:32910255C>Tc.574G>Ac.(574-576)Gaa>Aaap.E192K
BRCA73291044732910447+Frame_Shift_DelDELTT-TCGA-AN-A0AK-01A-21W-A019-09TCGA-AN-A0AK-10A-01W-A021-09g.chr7:32910447delTc.382delAc.(382-384)atafsp.I128fs
CESC73290952132909521+SilentSNPCCTTCGA-JW-A5VL-01A-11D-A28B-09TCGA-JW-A5VL-10A-01D-A28E-09g.chr7:32909521C>Tc.1308G>Ac.(1306-1308)ctG>ctAp.L436L
COAD73290913732909137+SilentSNPCCTTCGA-F4-6570-01A-11D-1771-10TCGA-F4-6570-10A-01D-1771-10g.chr7:32909137C>Tc.1692G>Ac.(1690-1692)cgG>cgAp.R564R
COAD73290956832909568+Missense_MutationSNPAAGTCGA-G4-6588-01A-11D-1771-10TCGA-G4-6588-10A-01D-1771-10g.chr7:32909568A>Gc.1261T>Cc.(1261-1263)Tgg>Cggp.W421R
COAD73291016032910160+SilentSNPAAGTCGA-A6-5665-01A-01D-1650-10TCGA-A6-5665-10A-01D-1650-10g.chr7:32910160A>Gc.669T>Cc.(667-669)gaT>gaCp.D223D
COAD73291022932910229+SilentSNPCCTTCGA-G4-6628-01A-11D-1835-10TCGA-G4-6628-10A-01D-1835-10g.chr7:32910229C>Tc.600G>Ac.(598-600)ctG>ctAp.L200L
COADREAD73290912032909120+Missense_MutationSNPCCTTCGA-AG-4015-01A-01W-1073-09TCGA-AG-4015-10A-01W-1073-09g.chr7:32909120C>Tc.1709G>Ac.(1708-1710)cGt>cAtp.R570H
COADREAD73290913732909137+SilentSNPCCTTCGA-F4-6570-01A-11D-1771-10TCGA-F4-6570-10A-01D-1771-10g.chr7:32909137C>Tc.1692G>Ac.(1690-1692)cgG>cgAp.R564R
COADREAD73290956832909568+Missense_MutationSNPAAGTCGA-G4-6588-01A-11D-1771-10TCGA-G4-6588-10A-01D-1771-10g.chr7:32909568A>Gc.1261T>Cc.(1261-1263)Tgg>Cggp.W421R
COADREAD73290987132909871+Missense_MutationSNPTTCTCGA-AG-3601-01A-01W-0833-10TCGA-AG-3601-10A-01W-0833-10g.chr7:32909871T>Cc.958A>Gc.(958-960)Ata>Gtap.I320V
COADREAD73290995132909951+Missense_MutationSNPTTCTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr7:32909951T>Cc.878A>Gc.(877-879)gAa>gGap.E293G
COADREAD73291016032910160+SilentSNPAAGTCGA-A6-5665-01A-01D-1650-10TCGA-A6-5665-10A-01D-1650-10g.chr7:32910160A>Gc.669T>Cc.(667-669)gaT>gaCp.D223D
COADREAD73291022932910229+SilentSNPCCTTCGA-G4-6628-01A-11D-1835-10TCGA-G4-6628-10A-01D-1835-10g.chr7:32910229C>Tc.600G>Ac.(598-600)ctG>ctAp.L200L
ESCA73291466632914666+Missense_MutationSNPCCTTCGA-L5-A43J-01A-12D-A247-09TCGA-L5-A43J-11A-11D-A247-09g.chr7:32914666C>Tc.274G>Ac.(274-276)Ggt>Agtp.G92S
GBM73290913832909138+Missense_MutationSNPCCTTCGA-06-2569-01A-01D-1494-08TCGA-06-2569-10A-01D-1494-08g.chr7:32909138C>Tc.1691G>Ac.(1690-1692)cGg>cAgp.R564Q
GBM73290945932909459+Missense_MutationSNPGGTTCGA-06-2557-01A-01D-1494-08TCGA-06-2557-10A-01D-1494-08g.chr7:32909459G>Tc.1370C>Ac.(1369-1371)aCt>aAtp.T457N
GBMLGG73290913832909138+Missense_MutationSNPCCTTCGA-06-2569-01A-01D-1494-08TCGA-06-2569-10A-01D-1494-08g.chr7:32909138C>Tc.1691G>Ac.(1690-1692)cGg>cAgp.R564Q
GBMLGG73290945932909459+Missense_MutationSNPGGTTCGA-06-2557-01A-01D-1494-08TCGA-06-2557-10A-01D-1494-08g.chr7:32909459G>Tc.1370C>Ac.(1369-1371)aCt>aAtp.T457N
HNSC73290896932908969+SilentSNPTTCTCGA-CR-7388-01A-11D-2012-08TCGA-CR-7388-10A-01D-2013-08g.chr7:32908969T>Cc.1860A>Gc.(1858-1860)ctA>ctGp.L620L
HNSC73290936532909365+SilentSNPGGATCGA-UF-A71E-01A-31D-A34J-08TCGA-UF-A71E-10B-01D-A34M-08g.chr7:32909365G>Ac.1464C>Tc.(1462-1464)ccC>ccTp.P488P
HNSC73290972132909721+Missense_MutationSNPGGATCGA-P3-A6T5-01A-11D-A34J-08TCGA-P3-A6T5-10A-01D-A34M-08g.chr7:32909721G>Ac.1108C>Tc.(1108-1110)Cgc>Tgcp.R370C
HNSC73291019632910196+Missense_MutationSNPCCATCGA-CV-7568-01A-11D-2229-08TCGA-CV-7568-10A-01D-2229-08g.chr7:32910196C>Ac.633G>Tc.(631-633)caG>caTp.Q211H
HNSC73291919032919190+Missense_MutationSNPGGCTCGA-CQ-5326-01A-01D-1870-08TCGA-CQ-5326-10A-01D-1870-08g.chr7:32919190G>Cc.27C>Gc.(25-27)atC>atGp.I9M
KIPAN73290902132909021+Missense_MutationSNPAAGTCGA-CJ-4897-01A-03D-1429-08TCGA-CJ-4897-11A-01D-1429-08g.chr7:32909021A>Gc.1808T>Cc.(1807-1809)tTt>tCtp.F603S
KIPAN73290972432909724+Missense_MutationSNPCCTTCGA-CZ-4863-01A-01D-1501-10TCGA-CZ-4863-11A-01D-1501-10g.chr7:32909724C>Tc.1105G>Ac.(1105-1107)Gtc>Atcp.V369I
KIRC73290902132909021+Missense_MutationSNPAAGTCGA-CJ-4897-01A-03D-1429-08TCGA-CJ-4897-11A-01D-1429-08g.chr7:32909021A>Gc.1808T>Cc.(1807-1809)tTt>tCtp.F603S
KIRC73290972432909724+Missense_MutationSNPCCTTCGA-CZ-4863-01A-01D-1501-10TCGA-CZ-4863-11A-01D-1501-10g.chr7:32909724C>Tc.1105G>Ac.(1105-1107)Gtc>Atcp.V369I
LUAD73290905432909054+Missense_MutationSNPTTATCGA-64-1679-01A-21D-2063-08TCGA-64-1679-10A-01D-2063-08g.chr7:32909054T>Ac.1775A>Tc.(1774-1776)gAa>gTap.E592V
LUAD73291011832910118+SilentSNPCCGTCGA-MP-A4TF-01A-11D-A25L-08TCGA-MP-A4TF-10A-01D-A25L-08g.chr7:32910118C>Gc.711G>Cc.(709-711)ctG>ctCp.L237L
LUAD73291014032910140+Missense_MutationSNPTTATCGA-55-8207-01A-11D-2238-08TCGA-55-8207-10A-01D-2238-08g.chr7:32910140T>Ac.689A>Tc.(688-690)cAg>cTgp.Q230L
LUAD73291017132910171+Missense_MutationSNPTTCTCGA-73-4666-01A-01D-1265-08TCGA-73-4666-11A-01D-1265-08g.chr7:32910171T>Cc.658A>Gc.(658-660)Atc>Gtcp.I220V
LUSC73290908232909082+Missense_MutationSNPCCATCGA-33-4586-01A-01D-1441-08TCGA-33-4586-11A-01D-1441-08g.chr7:32909082C>Ac.1747G>Tc.(1747-1749)Gtg>Ttgp.V583L
LUSC73290915432909154+Missense_MutationSNPCCGTCGA-33-6737-01A-11D-1817-08TCGA-33-6737-11A-01D-1817-08g.chr7:32909154C>Gc.1675G>Cc.(1675-1677)Gac>Cacp.D559H
LUSC73290945032909450+Missense_MutationSNPGGTTCGA-18-4086-01A-01D-1352-08TCGA-18-4086-11A-01D-1352-08g.chr7:32909450G>Tc.1379C>Ac.(1378-1380)tCc>tAcp.S460Y
PAAD73290981132909811+Missense_MutationSNPGGTTCGA-3A-A9I5-01A-11D-A38G-08TCGA-3A-A9I5-10A-01D-A38J-08g.chr7:32909811G>Tc.1018C>Ac.(1018-1020)Ctt>Attp.L340I
PAAD73291018032910180+Missense_MutationSNPGGATCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr7:32910180G>Ac.649C>Tc.(649-651)Ctt>Tttp.L217F
PCPG73291034432910344+Missense_MutationSNPGGATCGA-RT-A6YA-01A-12D-A35D-08TCGA-RT-A6YA-10B-01D-A35B-08g.chr7:32910344G>Ac.485C>Tc.(484-486)gCt>gTtp.A162V
PRAD73290937832909378+Missense_MutationSNPCCTTCGA-KK-A8IG-01A-11D-A364-08TCGA-KK-A8IG-11A-11D-A362-08g.chr7:32909378C>Tc.1451G>Ac.(1450-1452)gGc>gAcp.G484D
READ73290912032909120+Missense_MutationSNPCCTTCGA-AG-4015-01A-01W-1073-09TCGA-AG-4015-10A-01W-1073-09g.chr7:32909120C>Tc.1709G>Ac.(1708-1710)cGt>cAtp.R570H
READ73290987132909871+Missense_MutationSNPTTCTCGA-AG-3601-01A-01W-0833-10TCGA-AG-3601-10A-01W-0833-10g.chr7:32909871T>Cc.958A>Gc.(958-960)Ata>Gtap.I320V
READ73290995132909951+Missense_MutationSNPTTCTCGA-AG-A002-01A-01W-A00K-09TCGA-AG-A002-10A-01W-A00K-09g.chr7:32909951T>Cc.878A>Gc.(877-879)gAa>gGap.E293G
SKCM73290904532909045+Missense_MutationSNPGGATCGA-EE-A29Q-06A-11D-A197-08TCGA-EE-A29Q-10A-01D-A199-08g.chr7:32909045G>Ac.1784C>Tc.(1783-1785)cCa>cTap.P595L
SKCM73290913232909132+Missense_MutationSNPTTATCGA-EE-A2MI-06A-11D-A197-08TCGA-EE-A2MI-10A-01D-A199-08g.chr7:32909132T>Ac.1697A>Tc.(1696-1698)cAt>cTtp.H566L
SKCM73290926132909261+Missense_MutationSNPGGATCGA-EE-A2MS-06A-11D-A197-08TCGA-EE-A2MS-10A-01D-A199-08g.chr7:32909261G>Ac.1568C>Tc.(1567-1569)cCc>cTcp.P523L
SKCM73290936832909368+SilentSNPGGATCGA-EE-A2GC-06A-11D-A197-08TCGA-EE-A2GC-10A-01D-A199-08g.chr7:32909368G>Ac.1461C>Tc.(1459-1461)ctC>ctTp.L487L
SKCM73290953632909536+SilentSNPAAGTCGA-ER-A3EV-06A-11D-A20D-08TCGA-ER-A3EV-10A-01D-A20D-08g.chr7:32909536A>Gc.1293T>Cc.(1291-1293)atT>atCp.I431I
SKCM73290988832909888+Missense_MutationSNPGGATCGA-EE-A181-06A-11D-A196-08TCGA-EE-A181-10A-01D-A198-08g.chr7:32909888G>Ac.941C>Tc.(940-942)cCt>cTtp.P314L
SKCM73290988932909889+Missense_MutationSNPGGATCGA-EE-A181-06A-11D-A196-08TCGA-EE-A181-10A-01D-A198-08g.chr7:32909889G>Ac.940C>Tc.(940-942)Cct>Tctp.P314S
SKCM73291003732910037+SilentSNPAACTCGA-QB-A6FS-06A-11D-A30X-08TCGA-QB-A6FS-10A-01D-A30X-08g.chr7:32910037A>Cc.792T>Gc.(790-792)acT>acGp.T264T
SKCM73291460932914609+Missense_MutationSNPGGCTCGA-ER-A19P-06A-11D-A196-08TCGA-ER-A19P-10A-01D-A198-08g.chr7:32914609G>Cc.331C>Gc.(331-333)Cta>Gtap.L111V
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-CN73291025532910255single base substitutionCGdownstream_gene_variant
BLCA-CN73291025532910255single base substitutionCGmissense_variantE192Q574G>C
BLCA-US73290988032909880single base substitutionCGdownstream_gene_variant
BLCA-US73290988032909880single base substitutionCGmissense_variantD317H949G>C
BLCA-US73291474432914744single base substitutionCTdownstream_gene_variant
BLCA-US73291474432914744single base substitutionCTexon_variant
BLCA-US73291474432914744single base substitutionCTmissense_variantE66K196G>A
BRCA-EU73290351332903513single base substitutionGCdownstream_gene_variant
BRCA-EU73290448032904480single base substitutionGAdownstream_gene_variant
BRCA-EU73290491932904919single base substitutionCTdownstream_gene_variant
BRCA-EU73290570532905705single base substitutionGAdownstream_gene_variant
BRCA-EU73290789932907899single base substitutionTC3_prime_UTR_variant
BRCA-EU73290789932907899single base substitutionTCdownstream_gene_variant
BRCA-EU73290871632908716single base substitutionCA3_prime_UTR_variant
BRCA-EU73290871632908716single base substitutionCAdownstream_gene_variant
BRCA-EU73290901832909018single base substitutionGTdownstream_gene_variant
BRCA-EU73290901832909018single base substitutionGTstop_gainedS604*1811C>A
BRCA-EU73290977932909779single base substitutionACdownstream_gene_variant
BRCA-EU73290977932909779single base substitutionACmissense_variantF350L1050T>G
BRCA-EU73290995932909959single base substitutionGCdownstream_gene_variant
BRCA-EU73290995932909959single base substitutionGCsynonymous_variantP290P870C>G
BRCA-EU73291263532912635single base substitutionGCdownstream_gene_variant
BRCA-EU73291263532912635single base substitutionGCintron_variant
BRCA-EU73291319732913197single base substitutionTCdownstream_gene_variant
BRCA-EU73291319732913197single base substitutionTCintron_variant
BRCA-EU73291335832913358single base substitutionAGdownstream_gene_variant
BRCA-EU73291335832913358single base substitutionAGintron_variant
BRCA-EU73291337332913373single base substitutionCTdownstream_gene_variant
BRCA-EU73291337332913373single base substitutionCTintron_variant
BRCA-EU73291453732914537single base substitutionCTdownstream_gene_variant
BRCA-EU73291453732914537single base substitutionCTexon_variant
BRCA-EU73291453732914537single base substitutionCTintron_variant
BRCA-EU73291700832917008single base substitutionAGdownstream_gene_variant
BRCA-EU73291700832917008single base substitutionAGintron_variant
BRCA-EU73291809332918093single base substitutionGAdownstream_gene_variant
BRCA-EU73291809332918093single base substitutionGAintron_variant
BRCA-EU73291988232919882single base substitutionTCintron_variant
BRCA-EU73291988232919882single base substitutionTCupstream_gene_variant
BRCA-EU73291993232919932single base substitutionTGintron_variant
BRCA-EU73291993232919932single base substitutionTGupstream_gene_variant
BRCA-EU73292087732920877single base substitutionCAintron_variant
BRCA-EU73292087732920877single base substitutionCAupstream_gene_variant
BRCA-EU73292170332921703single base substitutionGCintron_variant
BRCA-EU73292170332921703single base substitutionGCupstream_gene_variant
BRCA-EU73292373132923731single base substitutionAGintron_variant
BRCA-EU73292373132923731single base substitutionAGupstream_gene_variant
BRCA-EU73292390732923907single base substitutionTCintron_variant
BRCA-EU73292390732923907single base substitutionTCupstream_gene_variant
BRCA-EU73292641632926416single base substitutionCTintron_variant
BRCA-EU73292725232927252single base substitutionGTintron_variant
BRCA-EU73292750132927501single base substitutionGAintron_variant
BRCA-EU73292774532927745single base substitutionCTintron_variant
BRCA-EU73292907632929076single base substitutionGAintron_variant
BRCA-EU73292930832929308deletion of <=200bpT-intron_variant
BRCA-EU73292939932929399single base substitutionGCintron_variant
BRCA-EU73292948432929484single base substitutionCTintron_variant
BRCA-EU73292950032929500single base substitutionCTintron_variant
BRCA-EU73292960332929603single base substitutionCAintron_variant
BRCA-EU73292968932929689single base substitutionGCintron_variant
BRCA-EU73292985532929855single base substitutionCTintron_variant
BRCA-EU73293014432930144single base substitutionCTintron_variant
BRCA-EU73293060332930603single base substitutionCT5_prime_UTR_variant
BRCA-EU73293060332930603single base substitutionCTintron_variant
BRCA-EU73293066832930668single base substitutionGC5_prime_UTR_variant
BRCA-EU73293066832930668single base substitutionGCintron_variant
BRCA-EU73293069732930697deletion of <=200bpG-5_prime_UTR_variant
BRCA-EU73293069732930697deletion of <=200bpG-intron_variant
BRCA-EU73293186232931862single base substitutionGAintron_variant
BRCA-EU73293186232931862single base substitutionGAupstream_gene_variant
BRCA-EU73293239132932391single base substitutionCGintron_variant
BRCA-EU73293239132932391single base substitutionCGupstream_gene_variant
BRCA-EU73293412332934123single base substitutionGTupstream_gene_variant
BRCA-EU73293538832935388single base substitutionCTupstream_gene_variant
BRCA-EU73293559332935593single base substitutionTCupstream_gene_variant
BRCA-EU73293574232935742single base substitutionGTupstream_gene_variant
BRCA-EU73293667632936676single base substitutionGAupstream_gene_variant
BRCA-EU73293743332937433single base substitutionCGupstream_gene_variant
BRCA-FR73290570532905705single base substitutionGAdownstream_gene_variant
BRCA-FR73291545232915452single base substitutionGTdownstream_gene_variant
BRCA-FR73291545232915452single base substitutionGTintron_variant
BRCA-FR73291680432916804single base substitutionTCdownstream_gene_variant
BRCA-FR73291680432916804single base substitutionTCintron_variant
BRCA-FR73291809332918093single base substitutionGAdownstream_gene_variant
BRCA-FR73291809332918093single base substitutionGAintron_variant
BRCA-FR73292390732923907single base substitutionTCintron_variant
BRCA-FR73292390732923907single base substitutionTCupstream_gene_variant
BRCA-FR73292641632926416single base substitutionCTintron_variant
BRCA-FR73292907632929076single base substitutionGAintron_variant
BRCA-FR73292948432929484single base substitutionCTintron_variant
BRCA-FR73292960332929603single base substitutionCAintron_variant
BRCA-FR73292985532929855single base substitutionCTintron_variant
BRCA-FR73293060332930603single base substitutionCT5_prime_UTR_variant
BRCA-FR73293060332930603single base substitutionCTintron_variant
BRCA-FR73293118032931180single base substitutionCT5_prime_UTR_variant
BRCA-FR73293118032931180single base substitutionCTintron_variant
BRCA-FR73293118032931180single base substitutionCTupstream_gene_variant
BRCA-FR73293667632936676single base substitutionGAupstream_gene_variant
BRCA-UK73292725232927252single base substitutionGTintron_variant
BRCA-UK73293412332934123single base substitutionGTupstream_gene_variant
BRCA-US73290899532908995single base substitutionCGdownstream_gene_variant
BRCA-US73290899532908995single base substitutionCGmissense_variantE612Q1834G>C
BRCA-US73291025532910255single base substitutionCTdownstream_gene_variant
BRCA-US73291025532910255single base substitutionCTmissense_variantE192K574G>A
BRCA-US73291044732910447deletion of <=200bpT-downstream_gene_variant
BRCA-US73291044732910447deletion of <=200bpT-exon_variant
BRCA-US73291044732910447deletion of <=200bpT-frameshift_variantI128
BTCA-JP73291466732914667single base substitutionCTdownstream_gene_variant
BTCA-JP73291466732914667single base substitutionCTexon_variant
BTCA-JP73291466732914667single base substitutionCTsynonymous_variantT91T273G>A
CESC-US73290952132909521single base substitutionCTdownstream_gene_variant
CESC-US73290952132909521single base substitutionCTsynonymous_variantL436L1308G>A
CLLE-ES73291824932918249single base substitutionGCdownstream_gene_variant
CLLE-ES73291824932918249single base substitutionGCintron_variant
COAD-US73290901532909015single base substitutionGAdownstream_gene_variant
COAD-US73290901532909015single base substitutionGAmissense_variantT605M1814C>T
COAD-US73290913732909137single base substitutionCTdownstream_gene_variant
COAD-US73290913732909137single base substitutionCTsynonymous_variantR564R1692G>A
COAD-US73291016032910160single base substitutionAGdownstream_gene_variant
COAD-US73291016032910160single base substitutionAGsynonymous_variantD223D669T>C
COAD-US73291022932910229single base substitutionCTdownstream_gene_variant
COAD-US73291022932910229single base substitutionCTsynonymous_variantL200L600G>A
COCA-CN73290905132909051single base substitutionTAdownstream_gene_variant
COCA-CN73290905132909051single base substitutionTAmissense_variantE593V1778A>T
COCA-CN73290990832909908single base substitutionCTdownstream_gene_variant
COCA-CN73290990832909908single base substitutionCTsynonymous_variantK307K921G>A
COCA-CN73291296532912965single base substitutionCTdownstream_gene_variant
COCA-CN73291296532912965single base substitutionCTintron_variant
COCA-CN73292120732921207single base substitutionGTintron_variant
COCA-CN73292120732921207single base substitutionGTupstream_gene_variant
COCA-CN73293543932935439single base substitutionAGupstream_gene_variant
EOPC-DE73290817932908179single base substitutionTC3_prime_UTR_variant
EOPC-DE73290817932908179single base substitutionTCdownstream_gene_variant
EOPC-DE73293294232932942single base substitutionATintron_variant
EOPC-DE73293294232932942single base substitutionATupstream_gene_variant
ESAD-UK73290460032904600single base substitutionTCdownstream_gene_variant
ESAD-UK73290485432904854single base substitutionGAdownstream_gene_variant
ESAD-UK73290514932905149single base substitutionGCdownstream_gene_variant
ESAD-UK73290526032905260single base substitutionCTdownstream_gene_variant
ESAD-UK73290631032906310single base substitutionCTdownstream_gene_variant
ESAD-UK73290678632906786single base substitutionATdownstream_gene_variant
ESAD-UK73290709032907090single base substitutionTCdownstream_gene_variant
ESAD-UK73290818132908181single base substitutionAC3_prime_UTR_variant
ESAD-UK73290818132908181single base substitutionACdownstream_gene_variant
ESAD-UK73290996532909965single base substitutionGAdownstream_gene_variant
ESAD-UK73290996532909965single base substitutionGAsynonymous_variantY288Y864C>T
ESAD-UK73291042632910426single base substitutionGAdownstream_gene_variant
ESAD-UK73291042632910426single base substitutionGAexon_variant
ESAD-UK73291042632910426single base substitutionGAstop_gainedR135*403C>T
ESAD-UK73291128432911284single base substitutionACdownstream_gene_variant
ESAD-UK73291128432911284single base substitutionACintron_variant
ESAD-UK73291272532912725single base substitutionACdownstream_gene_variant
ESAD-UK73291272532912725single base substitutionACintron_variant
ESAD-UK73291483032914830single base substitutionGCdownstream_gene_variant
ESAD-UK73291483032914830single base substitutionGCintron_variant
ESAD-UK73291535432915354single base substitutionTGdownstream_gene_variant
ESAD-UK73291535432915354single base substitutionTGintron_variant
ESAD-UK73292114732921148deletion of <=200bpTA-intron_variant
ESAD-UK73292114732921148deletion of <=200bpTA-upstream_gene_variant
ESAD-UK73292389532923895single base substitutionCTintron_variant
ESAD-UK73292389532923895single base substitutionCTupstream_gene_variant
ESAD-UK73293048332930483single base substitutionCTintron_variant
ESAD-UK73293399532933995single base substitutionACupstream_gene_variant
ESAD-UK73293458332934583single base substitutionCTupstream_gene_variant
ESAD-UK73293750932937509single base substitutionGAupstream_gene_variant
ESAD-UK73293751732937517single base substitutionGAupstream_gene_variant
ESAD-UK73293754132937541single base substitutionACupstream_gene_variant
ESAD-UK73293794832937948single base substitutionGTupstream_gene_variant
ESAD-UK73293822432938224single base substitutionGAupstream_gene_variant
GBM-US73290913832909138single base substitutionCTdownstream_gene_variant
GBM-US73290913832909138single base substitutionCTmissense_variantR564Q1691G>A
GBM-US73290945932909459single base substitutionGTdownstream_gene_variant
GBM-US73290945932909459single base substitutionGTmissense_variantT457N1370C>A
KIRC-US73290902132909021single base substitutionAGdownstream_gene_variant
KIRC-US73290902132909021single base substitutionAGmissense_variantF603S1808T>C
KIRC-US73290972432909724single base substitutionCTdownstream_gene_variant
KIRC-US73290972432909724single base substitutionCTmissense_variantV369I1105G>A
LAML-KR73290918232909182single base substitutionGAdownstream_gene_variant
LAML-KR73290918232909182single base substitutionGAsynonymous_variantY549Y1647C>T
LAML-KR73291412432914124single base substitutionGAdownstream_gene_variant
LAML-KR73291412432914124single base substitutionGAintron_variant
LICA-FR73291358732913599deletion of <=200bpTTACTGGGCCAGG-downstream_gene_variant
LICA-FR73291358732913599deletion of <=200bpTTACTGGGCCAGG-intron_variant
LICA-FR73292552232925522insertion of <=200bp-TTintron_variant
LICA-FR73292830732928307deletion of <=200bpA-intron_variant
LINC-JP73290804232908042deletion of <=200bpA-3_prime_UTR_variant
LINC-JP73290804232908042deletion of <=200bpA-downstream_gene_variant
LINC-JP73290858632908586single base substitutionAT3_prime_UTR_variant
LINC-JP73290858632908586single base substitutionATdownstream_gene_variant
LINC-JP73291031532910315single base substitutionGTdownstream_gene_variant
LINC-JP73291031532910315single base substitutionGTmissense_variantL172M514C>A
LINC-JP73291050732910507insertion of <=200bp-Adownstream_gene_variant
LINC-JP73291050732910507insertion of <=200bp-Aintron_variant
LINC-JP73291733032917330single base substitutionTCdownstream_gene_variant
LINC-JP73291733032917330single base substitutionTCintron_variant
LINC-JP73292354832923548single base substitutionAGintron_variant
LINC-JP73292354832923548single base substitutionAGupstream_gene_variant
LINC-JP73292462932924629single base substitutionTCintron_variant
LIRI-JP73290396132903961single base substitutionGAdownstream_gene_variant
LIRI-JP73290835832908358single base substitutionAC3_prime_UTR_variant
LIRI-JP73290835832908358single base substitutionACdownstream_gene_variant
LIRI-JP73291357532913575single base substitutionAGdownstream_gene_variant
LIRI-JP73291357532913575single base substitutionAGintron_variant
LIRI-JP73291358132913581single base substitutionATdownstream_gene_variant
LIRI-JP73291358132913581single base substitutionATintron_variant
LIRI-JP73291379332913793single base substitutionCTdownstream_gene_variant
LIRI-JP73291379332913793single base substitutionCTintron_variant
LIRI-JP73291486632914866deletion of <=200bpG-downstream_gene_variant
LIRI-JP73291486632914866deletion of <=200bpG-intron_variant
LIRI-JP73291583532915835single base substitutionGAdownstream_gene_variant
LIRI-JP73291583532915835single base substitutionGAintron_variant
LIRI-JP73291814132918141single base substitutionGCdownstream_gene_variant
LIRI-JP73291814132918141single base substitutionGCintron_variant
LIRI-JP73291936732919367single base substitutionTC5_prime_UTR_premature_start_codon_gain_variant
LIRI-JP73291936732919367single base substitutionTCexon_variant
LIRI-JP73291936732919367single base substitutionTCupstream_gene_variant
LIRI-JP73292330432923304single base substitutionACintron_variant
LIRI-JP73292330432923304single base substitutionACupstream_gene_variant
LIRI-JP73292505332925053single base substitutionCGintron_variant
LIRI-JP73292514032925140single base substitutionTCintron_variant
LIRI-JP73292539532925395insertion of <=200bp-Aintron_variant
LIRI-JP73292760032927605deletion of <=200bpGCTTTT-intron_variant
LIRI-JP73292977632929776single base substitutionAGintron_variant
LIRI-JP73293017332930173deletion of <=200bpA-intron_variant
LIRI-JP73293024532930245single base substitutionACintron_variant
LIRI-JP73293545732935457single base substitutionCAupstream_gene_variant
LUSC-KR73290813532908135single base substitutionCG3_prime_UTR_variant
LUSC-KR73290813532908135single base substitutionCGdownstream_gene_variant
LUSC-KR73290870432908704single base substitutionTC3_prime_UTR_variant
LUSC-KR73290870432908704single base substitutionTCdownstream_gene_variant
LUSC-KR73290892432908924single base substitutionAG3_prime_UTR_variant
LUSC-KR73290892432908924single base substitutionAGdownstream_gene_variant
LUSC-KR73292239232922392single base substitutionTCintron_variant
LUSC-KR73292239232922392single base substitutionTCupstream_gene_variant
LUSC-US73290908232909082single base substitutionCAdownstream_gene_variant
LUSC-US73290908232909082single base substitutionCAmissense_variantV583L1747G>T
LUSC-US73290915432909154single base substitutionCGdownstream_gene_variant
LUSC-US73290915432909154single base substitutionCGmissense_variantD559H1675G>C
LUSC-US73290945032909450single base substitutionGTdownstream_gene_variant
LUSC-US73290945032909450single base substitutionGTmissense_variantS460Y1379C>A
MALY-DE73290966332909663single base substitutionCTdownstream_gene_variant
MALY-DE73290966332909663single base substitutionCTmissense_variantS389N1166G>A
MALY-DE73291018932910189single base substitutionAGdownstream_gene_variant
MALY-DE73291018932910189single base substitutionAGmissense_variantS214P640T>C
MALY-DE73291279932912799single base substitutionAGdownstream_gene_variant
MALY-DE73291279932912799single base substitutionAGintron_variant
MALY-DE73291287732912877single base substitutionACdownstream_gene_variant
MALY-DE73291287732912877single base substitutionACintron_variant
MALY-DE73292378432923784single base substitutionAGintron_variant
MALY-DE73292378432923784single base substitutionAGupstream_gene_variant
MALY-DE73293338832933388single base substitutionCAintron_variant
MALY-DE73293338832933388single base substitutionCAupstream_gene_variant
MELA-AU73290297332902973single base substitutionTGdownstream_gene_variant
MELA-AU73290311232903112single base substitutionGCdownstream_gene_variant
MELA-AU73290344832903448single base substitutionTCdownstream_gene_variant
MELA-AU73290476532904765single base substitutionGAdownstream_gene_variant
MELA-AU73290488432904884single base substitutionTCdownstream_gene_variant
MELA-AU73290505532905055single base substitutionCTdownstream_gene_variant
MELA-AU73290644432906444single base substitutionAGdownstream_gene_variant
MELA-AU73290666932906669single base substitutionTCdownstream_gene_variant
MELA-AU73290686632906866single base substitutionCTdownstream_gene_variant
MELA-AU73290801232908012single base substitutionAT3_prime_UTR_variant
MELA-AU73290801232908012single base substitutionATdownstream_gene_variant
MELA-AU73290896032908960single base substitutionTCdownstream_gene_variant
MELA-AU73290896032908960single base substitutionTCsynonymous_variantV623V1869A>G
MELA-AU73290958632909586single base substitutionAGdownstream_gene_variant
MELA-AU73290958632909586single base substitutionAGsynonymous_variantL415L1243T>C
MELA-AU73290963532909635single base substitutionGAdownstream_gene_variant
MELA-AU73290963532909635single base substitutionGAsynonymous_variantT398T1194C>T
MELA-AU73291081632910816single base substitutionTCdownstream_gene_variant
MELA-AU73291081632910816single base substitutionTCintron_variant
MELA-AU73291165132911651single base substitutionGAdownstream_gene_variant
MELA-AU73291165132911651single base substitutionGAintron_variant
MELA-AU73291378732913787single base substitutionGAdownstream_gene_variant
MELA-AU73291378732913787single base substitutionGAintron_variant
MELA-AU73291378832913788single base substitutionGAdownstream_gene_variant
MELA-AU73291378832913788single base substitutionGAintron_variant
MELA-AU73291420032914200single base substitutionGAdownstream_gene_variant
MELA-AU73291420032914200single base substitutionGAexon_variant
MELA-AU73291420032914200single base substitutionGAintron_variant
MELA-AU73291429332914293single base substitutionATdownstream_gene_variant
MELA-AU73291429332914293single base substitutionATexon_variant
MELA-AU73291429332914293single base substitutionATintron_variant
MELA-AU73291441432914414single base substitutionAGdownstream_gene_variant
MELA-AU73291441432914414single base substitutionAGexon_variant
MELA-AU73291441432914414single base substitutionAGintron_variant
MELA-AU73291457832914578single base substitutionGAdownstream_gene_variant
MELA-AU73291457832914578single base substitutionGAexon_variant
MELA-AU73291457832914578single base substitutionGAintron_variant
MELA-AU73291503832915038single base substitutionCAdownstream_gene_variant
MELA-AU73291503832915038single base substitutionCAintron_variant
MELA-AU73291564732915647single base substitutionCTdownstream_gene_variant
MELA-AU73291564732915647single base substitutionCTintron_variant
MELA-AU73291780032917800single base substitutionGAdownstream_gene_variant
MELA-AU73291780032917800single base substitutionGAintron_variant
MELA-AU73291781132917811single base substitutionGAdownstream_gene_variant
MELA-AU73291781132917811single base substitutionGAintron_variant
MELA-AU73292294732922947single base substitutionTCintron_variant
MELA-AU73292294732922947single base substitutionTCupstream_gene_variant
MELA-AU73292300132923001single base substitutionGAintron_variant
MELA-AU73292300132923001single base substitutionGAupstream_gene_variant
MELA-AU73292423132924231single base substitutionGAintron_variant
MELA-AU73292589532925895single base substitutionGAintron_variant
MELA-AU73292648032926480single base substitutionGAintron_variant
MELA-AU73292649932926499single base substitutionGAintron_variant
MELA-AU73292750932927509single base substitutionCGintron_variant
MELA-AU73292768032927680single base substitutionCTintron_variant
MELA-AU73292786332927863single base substitutionACintron_variant
MELA-AU73292794132927941single base substitutionCAintron_variant
MELA-AU73292822232928222single base substitutionAGintron_variant
MELA-AU73292832432928324single base substitutionATintron_variant
MELA-AU73292883032928830single base substitutionGAintron_variant
MELA-AU73292919132929191single base substitutionTCintron_variant
MELA-AU73292957732929577single base substitutionGAintron_variant
MELA-AU73293022532930225single base substitutionCGintron_variant
MELA-AU73293174532931745single base substitutionGA5_prime_UTR_variant
MELA-AU73293174532931745single base substitutionGAexon_variant
MELA-AU73293174532931745single base substitutionGAintron_variant
MELA-AU73293174532931745single base substitutionGAupstream_gene_variant
MELA-AU73293313032933130single base substitutionCTintron_variant
MELA-AU73293313032933130single base substitutionCTupstream_gene_variant
MELA-AU73293349232933492single base substitutionTG5_prime_UTR_variant
MELA-AU73293349232933492single base substitutionTGupstream_gene_variant
MELA-AU73293349932933499single base substitutionCG5_prime_UTR_variant
MELA-AU73293349932933499single base substitutionCGupstream_gene_variant
MELA-AU73293378132933781single base substitutionGAupstream_gene_variant
MELA-AU73293443232934432single base substitutionAGupstream_gene_variant
MELA-AU73293471132934711single base substitutionGAupstream_gene_variant
MELA-AU73293481832934818single base substitutionGAupstream_gene_variant
MELA-AU73293482432934824single base substitutionCTupstream_gene_variant
MELA-AU73293506632935066single base substitutionCTupstream_gene_variant
MELA-AU73293516332935163single base substitutionGAupstream_gene_variant
MELA-AU73293566632935666single base substitutionCTupstream_gene_variant
MELA-AU73293573632935736single base substitutionGAupstream_gene_variant
MELA-AU73293635932936359single base substitutionGAupstream_gene_variant
MELA-AU73293662932936629single base substitutionCTupstream_gene_variant
MELA-AU73293693432936934single base substitutionGAupstream_gene_variant
MELA-AU73293862632938626single base substitutionTGupstream_gene_variant
ORCA-IN73290437832904378single base substitutionTGdownstream_gene_variant
ORCA-IN73290752632907526single base substitutionGTdownstream_gene_variant
ORCA-IN73291009932910099single base substitutionCAdownstream_gene_variant
ORCA-IN73291009932910099single base substitutionCAmissense_variantV244L730G>T
ORCA-IN73291475732914757single base substitutionCAdownstream_gene_variant
ORCA-IN73291475732914757single base substitutionCAexon_variant
ORCA-IN73291475732914757single base substitutionCAmissense_variantM61I183G>T
OV-AU73290534532905345single base substitutionTCdownstream_gene_variant
OV-AU73291032632910326single base substitutionGAdownstream_gene_variant
OV-AU73291032632910326single base substitutionGAmissense_variantA168V503C>T
OV-AU73291253432912534single base substitutionGTdownstream_gene_variant
OV-AU73291253432912534single base substitutionGTintron_variant
OV-AU73292049232920492single base substitutionACintron_variant
OV-AU73292049232920492single base substitutionACupstream_gene_variant
OV-AU73292061632920616single base substitutionGCintron_variant
OV-AU73292061632920616single base substitutionGCupstream_gene_variant
OV-AU73292202232922022single base substitutionTCintron_variant
OV-AU73292202232922022single base substitutionTCupstream_gene_variant
OV-AU73292463732924637single base substitutionCTintron_variant
OV-AU73292520932925209single base substitutionGAintron_variant
OV-AU73293365732933657single base substitutionAC5_prime_UTR_variant
OV-AU73293365732933657single base substitutionACupstream_gene_variant
OV-AU73293468632934686single base substitutionCGupstream_gene_variant
OV-AU73293770732937707single base substitutionGTupstream_gene_variant
PACA-AU73291264632912646single base substitutionTGdownstream_gene_variant
PACA-AU73291264632912646single base substitutionTGintron_variant
PACA-AU73291507232915072single base substitutionAGdownstream_gene_variant
PACA-AU73291507232915072single base substitutionAGintron_variant
PACA-AU73291640632916406deletion of <=200bpA-downstream_gene_variant
PACA-AU73291640632916406deletion of <=200bpA-intron_variant
PACA-AU73292645732926457single base substitutionGTintron_variant
PACA-AU73293291432932914single base substitutionCGintron_variant
PACA-AU73293291432932914single base substitutionCGupstream_gene_variant
PACA-AU73293577332935773single base substitutionGTupstream_gene_variant
PACA-AU73293658332936583single base substitutionACupstream_gene_variant
PACA-CA73290644032906440single base substitutionGAdownstream_gene_variant
PACA-CA73291164332911643single base substitutionAGdownstream_gene_variant
PACA-CA73291164332911643single base substitutionAGintron_variant
PACA-CA73291448432914484single base substitutionGAdownstream_gene_variant
PACA-CA73291448432914484single base substitutionGAexon_variant
PACA-CA73291448432914484single base substitutionGAintron_variant
PACA-CA73291749232917492single base substitutionGAdownstream_gene_variant
PACA-CA73291749232917492single base substitutionGAintron_variant
PACA-CA73291835932918359single base substitutionGCdownstream_gene_variant
PACA-CA73291835932918359single base substitutionGCintron_variant
PACA-CA73292063832920638single base substitutionGAintron_variant
PACA-CA73292063832920638single base substitutionGAupstream_gene_variant
PACA-CA73292784532927845single base substitutionAGintron_variant
PACA-CA73292860432928604single base substitutionTCintron_variant
PACA-CA73293750932937509single base substitutionGAupstream_gene_variant
PAEN-AU73291178832911788single base substitutionCTdownstream_gene_variant
PAEN-AU73291178832911788single base substitutionCTintron_variant
PAEN-AU73291523532915235single base substitutionTCdownstream_gene_variant
PAEN-AU73291523532915235single base substitutionTCintron_variant
PAEN-AU73293121732931217single base substitutionGA5_prime_UTR_variant
PAEN-AU73293121732931217single base substitutionGAintron_variant
PAEN-AU73293121732931217single base substitutionGAupstream_gene_variant
PBCA-DE73291302332913023single base substitutionCAdownstream_gene_variant
PBCA-DE73291302332913023single base substitutionCAintron_variant
PRAD-CA73290759732907597single base substitutionGAdownstream_gene_variant
PRAD-CA73292588232925882single base substitutionACintron_variant
PRAD-UK73290869832908698single base substitutionTC3_prime_UTR_variant
PRAD-UK73290869832908698single base substitutionTCdownstream_gene_variant
PRAD-UK73291259832912598single base substitutionGTdownstream_gene_variant
PRAD-UK73291259832912598single base substitutionGTintron_variant
PRAD-UK73292277632922776single base substitutionGCintron_variant
PRAD-UK73292277632922776single base substitutionGCupstream_gene_variant
READ-US73291024632910246single base substitutionGTdownstream_gene_variant
READ-US73291024632910246single base substitutionGTsynonymous_variantR195R583C>A
READ-US73291464832914648single base substitutionCAdownstream_gene_variant
READ-US73291464832914648single base substitutionCAexon_variant
READ-US73291464832914648single base substitutionCAmissense_variantD98Y292G>T
RECA-EU73290979532909795single base substitutionCTdownstream_gene_variant
RECA-EU73290979532909795single base substitutionCTmissense_variantR345K1034G>A
RECA-EU73291098432910984single base substitutionACdownstream_gene_variant
RECA-EU73291098432910984single base substitutionACintron_variant
RECA-EU73292259132922591single base substitutionCTintron_variant
RECA-EU73292259132922591single base substitutionCTupstream_gene_variant
RECA-EU73292639632926396single base substitutionGCintron_variant
RECA-EU73293257232932572single base substitutionCGintron_variant
RECA-EU73293257232932572single base substitutionCGupstream_gene_variant
RECA-EU73293373932933739single base substitutionGA5_prime_UTR_variant
RECA-EU73293373932933739single base substitutionGAupstream_gene_variant
RECA-EU73293374032933740single base substitutionGA5_prime_UTR_variant
RECA-EU73293374032933740single base substitutionGAupstream_gene_variant
RECA-EU73293571832935718single base substitutionAGupstream_gene_variant
RECA-EU73293803432938034single base substitutionGTupstream_gene_variant
SKCA-BR73290624232906242single base substitutionCTdownstream_gene_variant
SKCA-BR73290828632908286single base substitutionCT3_prime_UTR_variant
SKCA-BR73290828632908286single base substitutionCTdownstream_gene_variant
SKCA-BR73290915832909158single base substitutionTCdownstream_gene_variant
SKCA-BR73290915832909158single base substitutionTCsynonymous_variantE557E1671A>G
SKCA-BR73291027132910271single base substitutionTAdownstream_gene_variant
SKCA-BR73291027132910271single base substitutionTAmissense_variantL186F558A>T
SKCA-BR73291213932912139single base substitutionATdownstream_gene_variant
SKCA-BR73291213932912139single base substitutionATintron_variant
SKCA-BR73291394032913940single base substitutionGAdownstream_gene_variant
SKCA-BR73291394032913940single base substitutionGAintron_variant
SKCA-BR73292016232920162insertion of <=200bp-TAintron_variant
SKCA-BR73292016232920162insertion of <=200bp-TAupstream_gene_variant
SKCA-BR73292071232920713deletion of <=200bpCA-intron_variant
SKCA-BR73292071232920713deletion of <=200bpCA-upstream_gene_variant
SKCA-BR73292265732922657single base substitutionGAintron_variant
SKCA-BR73292265732922657single base substitutionGAupstream_gene_variant
SKCA-BR73292508432925085deletion of <=200bpTA-intron_variant
SKCA-BR73292772732927727single base substitutionAGintron_variant
SKCA-BR73293086432930864single base substitutionGAintron_variant
SKCA-BR73293086432930864single base substitutionGAupstream_gene_variant
SKCA-BR73293106632931066single base substitutionTCintron_variant
SKCA-BR73293106632931066single base substitutionTCupstream_gene_variant
SKCA-BR73293453432934534single base substitutionAGupstream_gene_variant
SKCA-BR73293476932934769single base substitutionGAupstream_gene_variant
SKCA-BR73293552432935524single base substitutionGAupstream_gene_variant
SKCA-BR73293587132935871insertion of <=200bp-CAAupstream_gene_variant
SKCA-BR73293619732936197single base substitutionTAupstream_gene_variant
SKCA-BR73293686732936867single base substitutionACupstream_gene_variant
SKCA-BR73293700732937007single base substitutionCTupstream_gene_variant
SKCA-BR73293700832937008single base substitutionCTupstream_gene_variant
SKCA-BR73293700932937009single base substitutionCTupstream_gene_variant
SKCA-BR73293792932937929single base substitutionATupstream_gene_variant
SKCA-BR73293794232937942single base substitutionGAupstream_gene_variant
SKCA-BR73293823532938235single base substitutionACupstream_gene_variant
SKCA-BR73293869432938694single base substitutionCTupstream_gene_variant
SKCA-BR73293869532938695single base substitutionCTupstream_gene_variant
SKCM-US73290904532909045single base substitutionGAdownstream_gene_variant
SKCM-US73290904532909045single base substitutionGAmissense_variantP595L1784C>T
SKCM-US73290913232909132single base substitutionTAdownstream_gene_variant
SKCM-US73290913232909132single base substitutionTAmissense_variantH566L1697A>T
SKCM-US73290926132909261single base substitutionGAdownstream_gene_variant
SKCM-US73290926132909261single base substitutionGAmissense_variantP523L1568C>T
SKCM-US73290936832909368single base substitutionGAdownstream_gene_variant
SKCM-US73290936832909368single base substitutionGAsynonymous_variantL487L1461C>T
SKCM-US73290953632909536single base substitutionAGdownstream_gene_variant
SKCM-US73290953632909536single base substitutionAGsynonymous_variantI431I1293T>C
SKCM-US73291003732910037single base substitutionACdownstream_gene_variant
SKCM-US73291003732910037single base substitutionACsynonymous_variantT264T792T>G
STAD-US73290914932909149single base substitutionCTdownstream_gene_variant
STAD-US73290914932909149single base substitutionCTsynonymous_variantR560R1680G>A
STAD-US73290915032909150single base substitutionCTdownstream_gene_variant
STAD-US73290915032909150single base substitutionCTmissense_variantR560Q1679G>A
STAD-US73290919232909192single base substitutionCTdownstream_gene_variant
STAD-US73290919232909192single base substitutionCTmissense_variantR546Q1637G>A
STAD-US73290921232909212single base substitutionTCdownstream_gene_variant
STAD-US73290921232909212single base substitutionTCsynonymous_variantR539R1617A>G
STAD-US73290922032909220single base substitutionAGdownstream_gene_variant
STAD-US73290922032909220single base substitutionAGmissense_variantF537L1609T>C
STAD-US73290949232909492single base substitutionGTdownstream_gene_variant
STAD-US73290949232909492single base substitutionGTmissense_variantS446Y1337C>A
STAD-US73290959432909594single base substitutionAGdownstream_gene_variant
STAD-US73290959432909594single base substitutionAGmissense_variantV412A1235T>C
STAD-US73290962732909627single base substitutionCAdownstream_gene_variant
STAD-US73290962732909627single base substitutionCAmissense_variantR401I1202G>T
STAD-US73290983632909836single base substitutionTGdownstream_gene_variant
STAD-US73290983632909836single base substitutionTGmissense_variantK331N993A>C
STAD-US73290993732909937single base substitutionAGdownstream_gene_variant
STAD-US73290993732909937single base substitutionAGsynonymous_variantL298L892T>C
STAD-US73291005032910050single base substitutionCAdownstream_gene_variant
STAD-US73291005032910050single base substitutionCAmissense_variantR260I779G>T
STAD-US73291020332910203single base substitutionCTdownstream_gene_variant
STAD-US73291020332910203single base substitutionCTmissense_variantR209Q626G>A
STAD-US73291042832910428single base substitutionAGdownstream_gene_variant
STAD-US73291042832910428single base substitutionAGexon_variant
STAD-US73291042832910428single base substitutionAGmissense_variantV134A401T>C
STAD-US73291460932914609single base substitutionGTdownstream_gene_variant
STAD-US73291460932914609single base substitutionGTexon_variant
STAD-US73291460932914609single base substitutionGTmissense_variantL111I331C>A
STAD-US73291466432914664single base substitutionAGdownstream_gene_variant
STAD-US73291466432914664single base substitutionAGexon_variant
STAD-US73291466432914664single base substitutionAGsynonymous_variantG92G276T>C
UCEC-US73290923132909231single base substitutionGTdownstream_gene_variant
UCEC-US73290923132909231single base substitutionGTmissense_variantS533Y1598C>A
UCEC-US73290942032909420single base substitutionTGdownstream_gene_variant
UCEC-US73290942032909420single base substitutionTGmissense_variantK470T1409A>C
UCEC-US73290954732909547single base substitutionGTdownstream_gene_variant
UCEC-US73290954732909547single base substitutionGTmissense_variantH428N1282C>A
UCEC-US73290961432909614single base substitutionCAdownstream_gene_variant
UCEC-US73290961432909614single base substitutionCAmissense_variantE405D1215G>T
UCEC-US73290962732909627single base substitutionCAdownstream_gene_variant
UCEC-US73290962732909627single base substitutionCAmissense_variantR401I1202G>T
UCEC-US73290966132909661single base substitutionCTdownstream_gene_variant
UCEC-US73290966132909661single base substitutionCTmissense_variantV390I1168G>A
UCEC-US73290980432909804single base substitutionGAdownstream_gene_variant
UCEC-US73290980432909804single base substitutionGAmissense_variantT342I1025C>T
UCEC-US73291013532910136deletion of <=200bpCT-downstream_gene_variant
UCEC-US73291013532910136deletion of <=200bpCT-frameshift_variantRA231
UCEC-US73291042532910425single base substitutionCTdownstream_gene_variant
UCEC-US73291042532910425single base substitutionCTexon_variant
UCEC-US73291042532910425single base substitutionCTmissense_variantR135Q404G>A
UCEC-US73291045032910450single base substitutionTGdownstream_gene_variant
UCEC-US73291045032910450single base substitutionTGexon_variant
UCEC-US73291045032910450single base substitutionTGmissense_variantK127Q379A>C
UCEC-US73291916832919168single base substitutionAGdownstream_gene_variant
UCEC-US73291916832919168single base substitutionAGintron_variant
UCEC-US73291916832919168single base substitutionAGsynonymous_variantL17L49T>C
UCEC-US73291916832919168single base substitutionAGupstream_gene_variant
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
TCGA-AP-A056-01COSM1089230c.1215G>Tp.E405DSubstitution - Missense7:32870002-32870002-
TCGA-AG-4015-01COSM289582c.1709G>Ap.R570HSubstitution - Missense7:32869508-32869508-
TCGA-33-4586-01COSM746104c.1747G>Tp.V583LSubstitution - Missense7:32869470-32869470-
PS-155-3DCOSM4423691c.26T>Gp.I9SSubstitution - Missense7:32879579-32879579-
TCGA-CG-5721-01COSM3880688c.401T>Cp.V134ASubstitution - Missense7:32870816-32870816-
ESO-S41COSM1255205c.1427G>Tp.G476VSubstitution - Missense7:32869790-32869790-
HCC2998COSM3228167c.1596T>Cp.N532NSubstitution - coding silent7:32869621-32869621-
CN-AML-08-TCOSM4416586c.1647C>Tp.Y549YSubstitution - coding silent7:32869570-32869570-
CSCC-38-TCOSM4572852c.884T>Cp.V295ASubstitution - Missense7:32870333-32870333-
TCGA-B0-5092-01COSM485277c.1738C>Tp.R580*Substitution - Nonsense7:32869479-32869479-
TCGA-HU-A4GU-01COSM3880679c.1637G>Ap.R546QSubstitution - Missense7:32869580-32869580-
TCGA-CG-5721-01COSM3880690c.276T>Cp.G92GSubstitution - coding silent7:32875052-32875052-
TCGA-JW-A5VL-01COSM4847817c.1308G>Ap.L436LSubstitution - coding silent7:32869909-32869909-
TCGA-06-2557-01COSM2152562c.1370C>Ap.T457NSubstitution - Missense7:32869847-32869847-
TCGA-AP-A059-01COSM1089233c.1025C>Tp.T342ISubstitution - Missense7:32870192-32870192-
PS-155-5DCOSM4423691c.26T>Gp.I9SSubstitution - Missense7:32879579-32879579-
TCGA-B5-A0K6-01COSM1089234c.693_694delAGp.R231fs*10Deletion - Frameshift7:32870523-32870524-
TCGA-D1-A176-01COSM1089229c.1282C>Ap.H428NSubstitution - Missense7:32869935-32869935-
TCGA-EE-A29Q-06COSM3638173c.1784C>Tp.P595LSubstitution - Missense7:32869433-32869433-
UACC-62COSM1673097c.1546C>Tp.P516SSubstitution - Missense7:32869671-32869671-
HX25TCOSM1622806c.514C>Ap.L172MSubstitution - Missense7:32870703-32870703-
TCGA-F1-6177-01COSM3880689c.331C>Ap.L111ISubstitution - Missense7:32874997-32874997-
587376COSM1211373c.393G>Tp.E131DSubstitution - Missense7:32870824-32870824-
TCGA-BS-A0UV-01COSM1089227c.1598C>Ap.S533YSubstitution - Missense7:32869619-32869619-
TCGA-A6-5665-01COSM1450443c.669T>Cp.D223DSubstitution - coding silent7:32870548-32870548-
TCGA-D7-6822-01COSM3880682c.1337C>Ap.S446YSubstitution - Missense7:32869880-32869880-
TCGA-CG-5734-01COSM3880687c.626G>Ap.R209QSubstitution - Missense7:32870591-32870591-
BD49TCOSM5497880c.273G>Ap.T91TSubstitution - coding silent7:32875055-32875055-
I2L-P10-Tumor-OrganoidCOSM5357998c.502G>Ap.A168TSubstitution - Missense7:32870715-32870715-
TCGA-F4-6570-01COSM1450441c.1692G>Ap.R564RSubstitution - coding silent7:32869525-32869525-
LUAD-F00162COSM366644c.1140C>Gp.G380GSubstitution - coding silent7:32870077-32870077-
PD13625aCOSM5780196c.1811C>Ap.S604*Substitution - Nonsense7:32869406-32869406-
TCGA-B5-A0JY-01COSM1089236c.379A>Cp.K127QSubstitution - Missense7:32870838-32870838-
Pat_24_ACOSM5872636c.1708C>Tp.R570CSubstitution - Missense7:32869509-32869509-
TCGA-D7-6822-01COSM3880685c.892T>Cp.L298LSubstitution - coding silent7:32870325-32870325-
TCGA-06-2557COSM2152562c.1370C>Ap.T457NSubstitution - Missense7:32869847-32869847-
PD11366aCOSM5779653c.1050T>Gp.F350LSubstitution - Missense7:32870167-32870167-
T3225COSM1089235c.404G>Ap.R135QSubstitution - Missense7:32870813-32870813-
TCGA-CG-5726-01COSM3880677c.1680G>Ap.R560RSubstitution - coding silent7:32869537-32869537-
TCGA-C8-A275-01COSM3832673c.574G>Ap.E192KSubstitution - Missense7:32870643-32870643-
tumor_4170686COSM3358134c.1166G>Ap.S389NSubstitution - Missense7:32870051-32870051-
TCGA-BR-6452-01COSM3880683c.1235T>Cp.V412ASubstitution - Missense7:32869982-32869982-
TCGA-ER-A3EV-06COSM3923522c.1293T>Cp.I431ISubstitution - coding silent7:32869924-32869924-
TCGA-G4-6628-01COSM1450444c.600G>Ap.L200LSubstitution - coding silent7:32870617-32870617-
CG5COSM5422834c.1796C>Tp.P599LSubstitution - Missense7:32869421-32869421-
TCGA-AP-A0LM-01COSM1089232c.1168G>Ap.V390ISubstitution - Missense7:32870049-32870049-
TCGA-HU-A4GQ-01COSM1089231c.1202G>Tp.R401ISubstitution - Missense7:32870015-32870015-
TCGA-EE-A2GC-06COSM3638176c.1461C>Tp.L487LSubstitution - coding silent7:32869756-32869756-
TCGA-CZ-4863-01COSM485278c.1105G>Ap.V369ISubstitution - Missense7:32870112-32870112-
TCGA-BR-6706-01COSM3880680c.1617A>Gp.R539RSubstitution - coding silent7:32869600-32869600-
TCGA-BR-8680-01COSM3880686c.779G>Tp.R260ISubstitution - Missense7:32870438-32870438-
TCGA-33-6737-01COSM746103c.1675G>Cp.D559HSubstitution - Missense7:32869542-32869542-
pfg068TCOSM4746923c.342_344delAGAp.E114delEDeletion - In frame7:32870873-32870875-
TCGA-CD-A4MG-01COSM3880678c.1679G>Ap.R560QSubstitution - Missense7:32869538-32869538-
TCGA-F5-6814-01COSM3431559c.292G>Tp.D98YSubstitution - Missense7:32875036-32875036-
T3152COSM4694113c.924T>Cp.V308VSubstitution - coding silent7:32870293-32870293-
89COSM5014005c.757A>Gp.M253VSubstitution - Missense7:32870460-32870460-
LPJ119COSM1316712c.962C>Gp.A321GSubstitution - Missense7:32870255-32870255-
CSB1COSM5026735c.1487C>Tp.S496LSubstitution - Missense7:32869730-32869730-
B65COSM1755253c.574G>Cp.E192QSubstitution - Missense7:32870643-32870643-
1N29-VS-1T29COSM4973932c.186T>Gp.S62RSubstitution - Missense7:32875142-32875142-
BRC3COSM5026736c.1055G>Ap.W352*Substitution - Nonsense7:32870162-32870162-
TCGA-AN-A0AK-01COSM5205961c.382delAp.I128fs*1Deletion - Frameshift7:32870835-32870835-
STC252COSM5062432c.1229C>Tp.T410MSubstitution - Missense7:32869988-32869988-
SW48COSM3228159c.1810_1811insTp.S604fs*9Insertion - Frameshift7:32869406-32869407-
TCGA-QB-A6FS-06COSM3923523c.792T>Gp.T264TSubstitution - coding silent7:32870425-32870425-
TCGA-EE-A2MS-06COSM3638175c.1568C>Tp.P523LSubstitution - Missense7:32869649-32869649-
sysucc-1240TCOSM5766002c.921G>Ap.K307KSubstitution - coding silent7:32870296-32870296-
TCGA-G2-A2EO-01COSM1313045c.949G>Cp.D317HSubstitution - Missense7:32870268-32870268-
OSCC-GB_00350111COSM3715640c.730G>Tp.V244LSubstitution - Missense7:32870487-32870487-
TCGA-BR-8680-01COSM3880681c.1609T>Cp.F537LSubstitution - Missense7:32869608-32869608-
CSCC-16-TCOSM4572732c.845T>Gp.L282RSubstitution - Missense7:32870372-32870372-
35TCOSM3715640c.730G>Tp.V244LSubstitution - Missense7:32870487-32870487-
AOCS-116-1-3COSM4164312c.503C>Tp.A168VSubstitution - Missense7:32870714-32870714-
PS-155-6DCOSM4423691c.26T>Gp.I9SSubstitution - Missense7:32879579-32879579-
TCGA-F5-6814-01COSM3431558c.583C>Ap.R195RSubstitution - coding silent7:32870634-32870634-
TCGA-HU-A4H8-01COSM3880684c.993A>Cp.K331NSubstitution - Missense7:32870224-32870224-
TCGA-D8-A1J8-01COSM3832672c.1834G>Cp.E612QSubstitution - Missense7:32869383-32869383-
T276COSM1089232c.1168G>Ap.V390ISubstitution - Missense7:32870049-32870049-
T578COSM4694114c.576A>Gp.E192ESubstitution - coding silent7:32870641-32870641-
ccRCC-15COSM1662353c.1196T>Cp.V399ASubstitution - Missense7:32870021-32870021-
TCGA-DK-A3WW-01COSM3778397c.196G>Ap.E66KSubstitution - Missense7:32875132-32875132-
T3498COSM4694115c.265G>Ap.A89TSubstitution - Missense7:32875063-32875063-
CSCC-29-TCOSM4462326c.1241C>Tp.P414LSubstitution - Missense7:32869976-32869976-
TCGA-18-4086-01COSM746102c.1379C>Ap.S460YSubstitution - Missense7:32869838-32869838-
TCGA-F4-6570-01COSM3698365c.1814C>Tp.T605MSubstitution - Missense7:32869403-32869403-
B65-TumorCOSM1755253c.574G>Cp.E192QSubstitution - Missense7:32870643-32870643-
TCGA-BS-A0TA-01COSM1089238c.49T>Cp.L17LSubstitution - coding silent7:32879556-32879556-
3COSM421469c.1109G>Ap.R370HSubstitution - Missense7:32870108-32870108-
H219COSM5044051c.793A>Cp.K265QSubstitution - Missense7:32870424-32870424-
PS-155-1DCOSM4423691c.26T>Gp.I9SSubstitution - Missense7:32879579-32879579-
TCGA-D1-A16E-01COSM1089237c.361C>Tp.R121*Substitution - Nonsense7:32870856-32870856-
PD8999aCOSM5792432c.870C>Gp.P290PSubstitution - coding silent7:32870347-32870347-
OSCC-GB_01080111COSM4884316c.183G>Tp.M61ISubstitution - Missense7:32875145-32875145-
C0059TCOSM4155729c.1034G>Ap.R345KSubstitution - Missense7:32870183-32870183-
TCGA-CJ-4897-01COSM485276c.1808T>Cp.F603SSubstitution - Missense7:32869409-32869409-
LPJ119COSM1316711c.965G>Cp.G322ASubstitution - Missense7:32870252-32870252-
ESCC_68COSM5634037c.15C>Tp.D5DSubstitution - coding silent7:32879590-32879590-
CSCC-44-TCOSM4549856c.484G>Ap.A162TSubstitution - Missense7:32870733-32870733-
SNUH_G76_S1COSM4416586c.1647C>Tp.Y549YSubstitution - coding silent7:32869570-32869570-
HCC23TCOSM1622806c.514C>Ap.L172MSubstitution - Missense7:32870703-32870703-
TCGA-BS-A0UF-01COSM1089228c.1409A>Cp.K470TSubstitution - Missense7:32869808-32869808-
TCGA-BS-A0UF-01COSM1089231c.1202G>Tp.R401ISubstitution - Missense7:32870015-32870015-
TCGA-06-2569-01COSM3228163c.1691G>Ap.R564QSubstitution - Missense7:32869526-32869526-
GCT65COSM5749933c.1195G>Ap.V399ISubstitution - Missense7:32870022-32870022-
TCGA-EE-A2MI-06COSM3638174c.1697A>Tp.H566LSubstitution - Missense7:32869520-32869520-
CN-AML-NR-08-DxCOSM4416586c.1647C>Tp.Y549YSubstitution - coding silent7:32869570-32869570-
pfg212TCOSM1089232c.1168G>Ap.V390ISubstitution - Missense7:32870049-32870049-
HCC23COSM1622806c.514C>Ap.L172MSubstitution - Missense7:32870703-32870703-
TCGA-AP-A0LM-01COSM1089235c.404G>Ap.R135QSubstitution - Missense7:32870813-32870813-
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.3725417p14.32392531|CGAP|BC037887|A/G|non-coding||2687|Validated;
2392531|CGAP|BC047107|A/G|non-coding||2520|Validated
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
AGMissensep.F603Sc.1808T>C732909021RCCC
AGSynonymousp.I431Ic.1293T>C732909536CM
AGSynonymousp.L17Lc.49T>C732919168UCEC
AGSynonymousp.L298Lc.892T>C732909937STAD
ATSynonymousp.V295Vc.885T>A732909944CM
CAMissensep.G476Vc.1427G>T732909402ESCA
CAMissensep.V583Lc.1747G>T732909082LUSC
CGMissensep.D317Hc.949G>C732909880BLCA
CGMissensep.D559Hc.1675G>C732909154LUSC
CT-Frameshiftp.R231Sfs*10c.693_694delAG732910135UCEC
CTMissensep.D429Nc.1285G>A732909544HNSC
CTMissensep.R209Qc.626G>A732910203STAD
CTMissensep.R370Hc.1109G>A732909720LUAD
CTMissensep.R564Qc.1691G>A732909138GBM
CTMissensep.R570Hc.1709G>A732909120COREAD
CTMissensep.V369Ic.1105G>A732909724RCCC
CTNonsensep.W352*c.1055G>A732909774BRCA
CTSynonymousp.R560Rc.1680G>A732909149STAD
GAMissensep.P523Lc.1568C>T732909261CM
GAMissensep.P595Lc.1784C>T732909045CM
GAMissensep.S496Lc.1487C>T732909342BRCA
GASynonymousp.L487Lc.1461C>T732909368CM
GCIntronicSNV.c.170+798C>G732918249CLL
GCMissensep.I9Mc.27C>G732919190HNSC
GCMissensep.L111Vc.331C>G732914609CM
GGAAMissensep.P314Fc.940_941delinsTT732909888CM
GTMissensep.H428Nc.1282C>A732909547UCEC
GTMissensep.S446Yc.1337C>A732909492STAD
GTMissensep.S460Yc.1379C>A732909450LUSC
GTMissensep.T457Nc.1370C>A732909459GBM
TAMissensep.H566Lc.1697A>T732909132CM
TCMissensep.I220Vc.658A>G732910171LUAD
TCMissensep.I320Vc.958A>G732909871COREAD
TCSynonymousp.R539Rc.1617A>G732909212STAD