KBTBD13
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
ACC156536939565369395+Missense_MutationSNPCCTTCGA-OR-A5J2-01A-11D-A29I-10TCGA-OR-A5J2-10A-01D-A29L-10g.chr15:65369395C>Tc.242C>Tc.(241-243)gCc>gTcp.A81V
ACC156536939565369395+Missense_MutationSNPCCTTCGA-OR-A5JL-01A-11D-A29I-10TCGA-OR-A5JL-10A-01D-A29L-10g.chr15:65369395C>Tc.242C>Tc.(241-243)gCc>gTcp.A81V
ACC156536939565369395+Missense_MutationSNPCCTTCGA-OR-A5JP-01A-11D-A29I-10TCGA-OR-A5JP-10A-01D-A29L-10g.chr15:65369395C>Tc.242C>Tc.(241-243)gCc>gTcp.A81V
ACC156536939565369395+Missense_MutationSNPCCTTCGA-OR-A5KT-01A-11D-A29I-10TCGA-OR-A5KT-10A-01D-A29L-10g.chr15:65369395C>Tc.242C>Tc.(241-243)gCc>gTcp.A81V
ACC156536939565369395+Missense_MutationSNPCCTTCGA-OR-A5KV-01A-11D-A29I-10TCGA-OR-A5KV-10A-01D-A29L-10g.chr15:65369395C>Tc.242C>Tc.(241-243)gCc>gTcp.A81V
ACC156536939565369395+Missense_MutationSNPCCTTCGA-OR-A5L5-01A-11D-A29I-10TCGA-OR-A5L5-10A-01D-A29L-10g.chr15:65369395C>Tc.242C>Tc.(241-243)gCc>gTcp.A81V
ACC156536939565369395+Missense_MutationSNPCCTTCGA-OR-A5L9-01A-11D-A29I-10TCGA-OR-A5L9-10B-01D-A29L-10g.chr15:65369395C>Tc.242C>Tc.(241-243)gCc>gTcp.A81V
ACC156536939565369395+Missense_MutationSNPCCTTCGA-OR-A5LP-01A-11D-A29I-10TCGA-OR-A5LP-10A-01D-A29L-10g.chr15:65369395C>Tc.242C>Tc.(241-243)gCc>gTcp.A81V
ACC156536953165369531+SilentSNPGGTTCGA-OR-A5JP-01A-11D-A29I-10TCGA-OR-A5JP-10A-01D-A29L-10g.chr15:65369531G>Tc.378G>Tc.(376-378)gcG>gcTp.A126A
ACC156536953165369531+SilentSNPGGTTCGA-OR-A5JW-01A-11D-A29I-10TCGA-OR-A5JW-10A-01D-A29L-10g.chr15:65369531G>Tc.378G>Tc.(376-378)gcG>gcTp.A126A
ACC156536953165369531+SilentSNPGGTTCGA-OR-A5K2-01A-11D-A29I-10TCGA-OR-A5K2-10B-01D-A29L-10g.chr15:65369531G>Tc.378G>Tc.(376-378)gcG>gcTp.A126A
ACC156536953165369531+SilentSNPGGTTCGA-OR-A5L5-01A-11D-A29I-10TCGA-OR-A5L5-10A-01D-A29L-10g.chr15:65369531G>Tc.378G>Tc.(376-378)gcG>gcTp.A126A
ACC156536994765369947+Missense_MutationSNPGGATCGA-OR-A5JY-01A-31D-A29I-10TCGA-OR-A5JY-10A-01D-A29L-10g.chr15:65369947G>Ac.794G>Ac.(793-795)gGc>gAcp.G265D
BLCA156537040165370401+SilentSNPCCTTCGA-DK-AA75-01A-11D-A391-08TCGA-DK-AA75-10A-01D-A394-08g.chr15:65370401C>Tc.1248C>Tc.(1246-1248)atC>atTp.I416I
BRCA156537033265370332+SilentSNPCCTTCGA-E2-A574-01A-11D-A29N-09TCGA-E2-A574-10A-01D-A29N-09g.chr15:65370332C>Tc.1179C>Tc.(1177-1179)ctC>ctTp.L393L
COAD156536992465369924+SilentSNPCCTTCGA-G4-6309-01A-21D-1835-10TCGA-G4-6309-10A-01D-1835-10g.chr15:65369924C>Tc.771C>Tc.(769-771)gaC>gaTp.D257D
COADREAD156536992465369924+SilentSNPCCTTCGA-G4-6309-01A-21D-1835-10TCGA-G4-6309-10A-01D-1835-10g.chr15:65369924C>Tc.771C>Tc.(769-771)gaC>gaTp.D257D
DLBC156537025565370255+Missense_MutationSNPGGATCGA-GS-A9TT-01A-11D-A382-10TCGA-GS-A9TT-10A-01D-A385-10g.chr15:65370255G>Ac.1102G>Ac.(1102-1104)Gcc>Accp.A368T
GBMLGG156536930665369306+SilentSNPCCTTCGA-S9-A6WL-01A-21D-A33T-08TCGA-S9-A6WL-10A-01D-A33W-08g.chr15:65369306C>Tc.153C>Tc.(151-153)ggC>ggTp.G51G
HNSC156536921665369216+Frame_Shift_DelDELCC-TCGA-CR-7392-01A-11D-2012-08TCGA-CR-7392-10A-01D-2013-08g.chr15:65369216delCc.63delCc.(61-63)gacfsp.D21fs
HNSC156537038765370387+Missense_MutationSNPCCATCGA-IQ-A6SG-01A-12D-A34J-08TCGA-IQ-A6SG-10A-01D-A34M-08g.chr15:65370387C>Ac.1234C>Ac.(1234-1236)Ctg>Atgp.L412M
HNSC156537040765370407+SilentSNPCCTTCGA-CN-5369-01A-01D-1434-08TCGA-CN-5369-10A-01D-1434-08g.chr15:65370407C>Tc.1254C>Tc.(1252-1254)ggC>ggTp.G418G
KIPAN156536936765369367+SilentSNPCCTTCGA-B9-A5W8-01A-11D-A28G-10TCGA-B9-A5W8-10A-01D-A28G-10g.chr15:65369367C>Tc.214C>Tc.(214-216)Ctg>Ttgp.L72L
KIRP156536936765369367+SilentSNPCCTTCGA-B9-A5W8-01A-11D-A28G-10TCGA-B9-A5W8-10A-01D-A28G-10g.chr15:65369367C>Tc.214C>Tc.(214-216)Ctg>Ttgp.L72L
LGG156536930665369306+SilentSNPCCTTCGA-S9-A6WL-01A-21D-A33T-08TCGA-S9-A6WL-10A-01D-A33W-08g.chr15:65369306C>Tc.153C>Tc.(151-153)ggC>ggTp.G51G
LIHC156537019765370197+SilentSNPCCATCGA-EP-A2KB-01A-11D-A183-10TCGA-EP-A2KB-10A-01D-A183-10g.chr15:65370197C>Ac.1044C>Ac.(1042-1044)gcC>gcAp.A348A
LUSC156537004265370042+Missense_MutationSNPGGATCGA-22-4593-01A-21D-1817-08TCGA-22-4593-11A-01D-1817-08g.chr15:65370042G>Ac.889G>Ac.(889-891)Ggc>Agcp.G297S
PRAD156537034965370349+Missense_MutationSNPGGATCGA-XK-AAIW-01A-11D-A41K-08TCGA-XK-AAIW-10A-01D-A41N-08g.chr15:65370349G>Ac.1196G>Ac.(1195-1197)cGc>cAcp.R399H
SKCM156536926165369261+SilentSNPCCTTCGA-EE-A3J3-06A-11D-A20D-08TCGA-EE-A3J3-10A-01D-A20D-08g.chr15:65369261C>Tc.108C>Tc.(106-108)ttC>ttTp.F36F
SKCM156536992265369922+Missense_MutationSNPGGATCGA-D3-A51N-06A-11D-A25O-08TCGA-D3-A51N-10A-01D-A25O-08g.chr15:65369922G>Ac.769G>Ac.(769-771)Gac>Aacp.D257N
SKCM156537011765370117+Missense_MutationSNPGGATCGA-FW-A3R5-06A-11D-A23B-08TCGA-FW-A3R5-10A-01D-A23B-08g.chr15:65370117G>Ac.964G>Ac.(964-966)Gag>Aagp.E322K
SKCM156537022865370228+Missense_MutationSNPGGCTCGA-D3-A3MU-06A-11D-A21A-08TCGA-D3-A3MU-10A-01D-A21A-08g.chr15:65370228G>Cc.1075G>Cc.(1075-1077)Gga>Cgap.G359R
SKCM156537027665370276+Missense_MutationSNPGGATCGA-EE-A29M-06A-11D-A196-08TCGA-EE-A29M-10A-01D-A198-08g.chr15:65370276G>Ac.1123G>Ac.(1123-1125)Gcc>Accp.A375T
SKCM156537032465370324+Missense_MutationSNPGGATCGA-EE-A3J5-06A-11D-A20D-08TCGA-EE-A3J5-10A-01D-A20D-08g.chr15:65370324G>Ac.1171G>Ac.(1171-1173)Gga>Agap.G391R
SKCM156537043165370431+SilentSNPGGATCGA-FW-A3R5-06A-11D-A23B-08TCGA-FW-A3R5-10A-01D-A23B-08g.chr15:65370431G>Ac.1278G>Ac.(1276-1278)gaG>gaAp.E426E
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BRCA-EU156536688765366887single base substitutionCAupstream_gene_variant
BRCA-EU156536755965367559single base substitutionGAupstream_gene_variant
BRCA-EU156536808465368084single base substitutionCTupstream_gene_variant
BRCA-EU156536887865368878single base substitutionGAupstream_gene_variant
BRCA-EU156536977065369770single base substitutionCTmissense_variantT206M617C>T
BRCA-EU156536985665369856single base substitutionGAmissense_variantG235S703G>A
BRCA-EU156537143465371434single base substitutionAG3_prime_UTR_variant
BRCA-EU156537160165371601single base substitutionCA3_prime_UTR_variant
BRCA-EU156537202965372029single base substitutionTC3_prime_UTR_variant
BRCA-EU156537208865372088single base substitutionCT3_prime_UTR_variant
BRCA-EU156537213865372138single base substitutionCT3_prime_UTR_variant
BRCA-EU156537272365372723single base substitutionTAdownstream_gene_variant
BRCA-EU156537323365373233single base substitutionTCdownstream_gene_variant
BRCA-EU156537529765375297single base substitutionGAdownstream_gene_variant
BRCA-EU156537550465375504single base substitutionCTdownstream_gene_variant
BRCA-EU156537659665376596single base substitutionCTdownstream_gene_variant
BRCA-EU156537725465377254single base substitutionGCdownstream_gene_variant
BRCA-KR156537015665370156single base substitutionGAmissense_variantE335K1003G>A
BRCA-US156537033265370332single base substitutionCTsynonymous_variantL393L1179C>T
BTCA-JP156536963865369638single base substitutionCTmissense_variantT162M485C>T
BTCA-JP156536966965369669single base substitutionCGmissense_variantD172E516C>G
BTCA-JP156537012265370122single base substitutionCTsynonymous_variantY323Y969C>T
BTCA-JP156537016365370163single base substitutionGAmissense_variantR337Q1010G>A
BTCA-JP156537044665370446single base substitutionGAsynonymous_variantP431P1293G>A
COAD-US156536939565369395single base substitutionCTmissense_variantA81V242C>T
COAD-US156536953165369531single base substitutionGTsynonymous_variantA126A378G>T
COAD-US156536995165369951single base substitutionAGsynonymous_variantE266E798A>G
COAD-US156537035365370353single base substitutionTCsynonymous_variantG400G1200T>C
COCA-CN156536940565369405single base substitutionCTsynonymous_variantC84C252C>T
COCA-CN156536963065369630single base substitutionCTsynonymous_variantA159A477C>T
COCA-CN156536992165369921single base substitutionCTsynonymous_variantF256F768C>T
COCA-CN156537020365370203single base substitutionCTsynonymous_variantR350R1050C>T
ESAD-UK156536538165365381deletion of <=200bpA-upstream_gene_variant
ESAD-UK156536539265365392single base substitutionCGupstream_gene_variant
ESAD-UK156536751865367518single base substitutionGAupstream_gene_variant
ESAD-UK156536864365368643single base substitutionCGupstream_gene_variant
ESAD-UK156536911565369115single base substitutionCGupstream_gene_variant
ESAD-UK156536952865369528single base substitutionCTsynonymous_variantA125A375C>T
ESAD-UK156537129865371298single base substitutionCA3_prime_UTR_variant
ESAD-UK156537245765372457single base substitutionTAdownstream_gene_variant
ESAD-UK156537366565373665single base substitutionCTdownstream_gene_variant
ESAD-UK156537585965375859single base substitutionCAdownstream_gene_variant
ESAD-UK156537682565376825single base substitutionCTdownstream_gene_variant
ESCA-CN156536919565369195single base substitutionCTsynonymous_variantG14G42C>T
ESCA-CN156536948365369483single base substitutionCTsynonymous_variantC110C330C>T
ESCA-CN156536954365369543single base substitutionCTsynonymous_variantC130C390C>T
LAML-KR156536792465367924single base substitutionTCupstream_gene_variant
LAML-KR156536804765368047single base substitutionTCupstream_gene_variant
LAML-KR156536808465368084single base substitutionCTupstream_gene_variant
LICA-FR156536874665368746single base substitutionTCupstream_gene_variant
LICA-FR156536954665369546single base substitutionCTsynonymous_variantD131D393C>T
LICA-FR156537015865370168deletion of <=200bpGCTGCGGCGTC-frameshift_variantELRRP335
LICA-FR156537078865370788single base substitutionAG3_prime_UTR_variant
LIHC-US156536921765369217single base substitutionCTmissense_variantR22C64C>T
LINC-JP156536491765364917single base substitutionCTupstream_gene_variant
LIRI-JP156536530065365300single base substitutionCAupstream_gene_variant
LIRI-JP156536969665369696single base substitutionCTsynonymous_variantD181D543C>T
LIRI-JP156537236565372365single base substitutionTCdownstream_gene_variant
LIRI-JP156537248365372483single base substitutionTCdownstream_gene_variant
LIRI-JP156537396665373966single base substitutionTAdownstream_gene_variant
LIRI-JP156537572165375721single base substitutionTCdownstream_gene_variant
LIRI-JP156537636965376369single base substitutionAGdownstream_gene_variant
LIRI-JP156537637665376376single base substitutionTGdownstream_gene_variant
LIRI-JP156537686465376864single base substitutionCAdownstream_gene_variant
LIRI-JP156537727165377271single base substitutionGCdownstream_gene_variant
LUSC-KR156537483465374834single base substitutionCAdownstream_gene_variant
LUSC-US156537004265370042single base substitutionGAmissense_variantG297S889G>A
MALY-DE156536603565366035single base substitutionATupstream_gene_variant
MALY-DE156536698065366980single base substitutionCAupstream_gene_variant
MELA-AU156536429065364290single base substitutionGAupstream_gene_variant
MELA-AU156536496565364965single base substitutionCTupstream_gene_variant
MELA-AU156536525165365251single base substitutionGAupstream_gene_variant
MELA-AU156536540965365409single base substitutionCTupstream_gene_variant
MELA-AU156536549265365492single base substitutionCTupstream_gene_variant
MELA-AU156536554665365546single base substitutionGAupstream_gene_variant
MELA-AU156536558865365588single base substitutionTAupstream_gene_variant
MELA-AU156536587165365871single base substitutionGAupstream_gene_variant
MELA-AU156536607965366079single base substitutionCTupstream_gene_variant
MELA-AU156536634365366343single base substitutionCTupstream_gene_variant
MELA-AU156536646465366464single base substitutionGAupstream_gene_variant
MELA-AU156536671565366715single base substitutionGAupstream_gene_variant
MELA-AU156536675965366759single base substitutionCTupstream_gene_variant
MELA-AU156536755165367551single base substitutionCTupstream_gene_variant
MELA-AU156536764665367646single base substitutionCTupstream_gene_variant
MELA-AU156536779765367797single base substitutionGAupstream_gene_variant
MELA-AU156536800465368004single base substitutionGAupstream_gene_variant
MELA-AU156536845065368450single base substitutionCTupstream_gene_variant
MELA-AU156536901565369015single base substitutionCTupstream_gene_variant
MELA-AU156536904565369045single base substitutionGAupstream_gene_variant
MELA-AU156536938265369382single base substitutionGAmissense_variantE77K229G>A
MELA-AU156536987665369876single base substitutionCTsynonymous_variantF241F723C>T
MELA-AU156537022965370229single base substitutionGAmissense_variantG359E1076G>A
MELA-AU156537031165370311single base substitutionCTsynonymous_variantF386F1158C>T
MELA-AU156537032465370324single base substitutionGAmissense_variantG391R1171G>A
MELA-AU156537045265370452single base substitutionCTsynonymous_variantP433P1299C>T
MELA-AU156537096665370966single base substitutionCT3_prime_UTR_variant
MELA-AU156537120165371202multiple base substitution (>=2bp and <=200bp)GGAA3_prime_UTR_variant
MELA-AU156537125065371251multiple base substitution (>=2bp and <=200bp)GGAA3_prime_UTR_variant
MELA-AU156537128865371289multiple base substitution (>=2bp and <=200bp)CCTT3_prime_UTR_variant
MELA-AU156537146065371460single base substitutionGA3_prime_UTR_variant
MELA-AU156537166165371661single base substitutionCT3_prime_UTR_variant
MELA-AU156537171065371710single base substitutionCT3_prime_UTR_variant
MELA-AU156537183065371830single base substitutionCT3_prime_UTR_variant
MELA-AU156537221865372218single base substitutionCT3_prime_UTR_variant
MELA-AU156537232665372326single base substitutionGAdownstream_gene_variant
MELA-AU156537285665372856single base substitutionGAdownstream_gene_variant
MELA-AU156537287365372873single base substitutionGCdownstream_gene_variant
MELA-AU156537289165372891single base substitutionGAdownstream_gene_variant
MELA-AU156537301765373017single base substitutionCTdownstream_gene_variant
MELA-AU156537338265373382single base substitutionGAdownstream_gene_variant
MELA-AU156537340165373401single base substitutionGAdownstream_gene_variant
MELA-AU156537346165373461single base substitutionCTdownstream_gene_variant
MELA-AU156537373665373736single base substitutionCTdownstream_gene_variant
MELA-AU156537382065373820single base substitutionGAdownstream_gene_variant
MELA-AU156537404265374042single base substitutionCTdownstream_gene_variant
MELA-AU156537404465374044single base substitutionGAdownstream_gene_variant
MELA-AU156537405865374058single base substitutionCTdownstream_gene_variant
MELA-AU156537448065374480single base substitutionGAdownstream_gene_variant
MELA-AU156537479565374795single base substitutionGCdownstream_gene_variant
MELA-AU156537489865374898single base substitutionCTdownstream_gene_variant
MELA-AU156537495265374952single base substitutionTAdownstream_gene_variant
MELA-AU156537595265375952single base substitutionCTdownstream_gene_variant
MELA-AU156537604565376045single base substitutionCTdownstream_gene_variant
MELA-AU156537607165376071single base substitutionGAdownstream_gene_variant
MELA-AU156537607265376072single base substitutionGAdownstream_gene_variant
MELA-AU156537625565376255single base substitutionCTdownstream_gene_variant
MELA-AU156537682765376827single base substitutionCTdownstream_gene_variant
MELA-AU156537691065376910single base substitutionCTdownstream_gene_variant
MELA-AU156537698165376981single base substitutionGAdownstream_gene_variant
MELA-AU156537711565377115single base substitutionGAdownstream_gene_variant
ORCA-IN156536666965366669single base substitutionAGupstream_gene_variant
ORCA-IN156536869565368695single base substitutionAGupstream_gene_variant
ORCA-IN156536983265369832single base substitutionCAmissense_variantL227M679C>A
ORCA-IN156537107565371075deletion of <=200bpA-3_prime_UTR_variant
OV-AU156536506665365066single base substitutionGCupstream_gene_variant
OV-AU156536660865366608single base substitutionAGupstream_gene_variant
OV-AU156537065065370650single base substitutionGC3_prime_UTR_variant
PACA-AU156536614065366140single base substitutionGTupstream_gene_variant
PACA-AU156536740365367403single base substitutionCTupstream_gene_variant
PACA-CA156536684265366842single base substitutionGAupstream_gene_variant
PACA-CA156536926365369263single base substitutionGAmissense_variantR37H110G>A
PACA-CA156536933165369331single base substitutionGAmissense_variantA60T178G>A
PACA-CA156536993665369936single base substitutionCTsynonymous_variantY261Y783C>T
PACA-CA156537229265372292single base substitutionTAdownstream_gene_variant
PAEN-AU156536766065367660single base substitutionCTupstream_gene_variant
PBCA-DE156536876865368768single base substitutionCTupstream_gene_variant
PRAD-UK156536930665369306single base substitutionCTsynonymous_variantG51G153C>T
READ-US156536939565369395single base substitutionCTmissense_variantA81V242C>T
READ-US156536995165369951single base substitutionAGsynonymous_variantE266E798A>G
READ-US156537020465370204single base substitutionGAmissense_variantD351N1051G>A
RECA-EU156536485865364858single base substitutionGAupstream_gene_variant
RECA-EU156536574865365748single base substitutionGTupstream_gene_variant
RECA-EU156537484765374847single base substitutionGTdownstream_gene_variant
SKCA-BR156536443065364430single base substitutionGAupstream_gene_variant
SKCA-BR156536494465364944single base substitutionGAupstream_gene_variant
SKCA-BR156536663565366636deletion of <=200bpAC-upstream_gene_variant
SKCA-BR156536984865369848single base substitutionACmissense_variantD232A695A>C
SKCA-BR156537001465370014single base substitutionCTsynonymous_variantF287F861C>T
SKCA-BR156537171065371710single base substitutionCT3_prime_UTR_variant
SKCM-US156536926165369261single base substitutionCTsynonymous_variantF36F108C>T
SKCM-US156536992265369922single base substitutionGAmissense_variantD257N769G>A
SKCM-US156537011765370117single base substitutionGAmissense_variantE322K964G>A
SKCM-US156537027665370276single base substitutionGAmissense_variantA375T1123G>A
SKCM-US156537032465370324single base substitutionGAmissense_variantG391R1171G>A
SKCM-US156537043165370431single base substitutionGAsynonymous_variantE426E1278G>A
STAD-US156536926365369263single base substitutionGAmissense_variantR37H110G>A
STAD-US156536931765369317single base substitutionCTmissense_variantA55V164C>T
STAD-US156537022865370228single base substitutionGAmissense_variantG359R1075G>A
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
P04-1790COSM245130c.937C>Tp.R313WSubstitution - Missense15:65077752-65077752+
TCGA-D5-6926-01COSM3749303c.242C>Tp.A81VSubstitution - Missense15:65077057-65077057+
PTC-54CCOSM3749303c.242C>Tp.A81VSubstitution - Missense15:65077057-65077057+
CSCC-27-TCOSM4564003c.9G>Ap.R3RSubstitution - coding silent15:65076824-65076824+
LUAD-S01467COSM399315c.762C>Gp.A254ASubstitution - coding silent15:65077577-65077577+
TCGA-AY-6196-01COSM3754413c.378G>Tp.A126ASubstitution - coding silent15:65077193-65077193+
TCGA-AY-6386-01COSM3754413c.378G>Tp.A126ASubstitution - coding silent15:65077193-65077193+
587220COSM1211371c.563G>Ap.R188HSubstitution - Missense15:65077378-65077378+
PCSI_0083_Pa_P_526COSM3786550c.178G>Ap.A60TSubstitution - Missense15:65076993-65076993+
PCSI_0112_Pa_PCOSM3377624c.110G>Ap.R37HSubstitution - Missense15:65076925-65076925+
TCGA-AY-6386-01COSM3749303c.242C>Tp.A81VSubstitution - Missense15:65077057-65077057+
TCGA-F1-6874-01COSM3377624c.110G>Ap.R37HSubstitution - Missense15:65076925-65076925+
SNU-175COSM4650354c.252C>Tp.C84CSubstitution - coding silent15:65077067-65077067+
ESCC_BICR_017TCOSM5158924c.42C>Tp.G14GSubstitution - coding silent15:65076857-65076857+
ESCC_BICR_042TCOSM5443673c.330C>Tp.C110CSubstitution - coding silent15:65077145-65077145+
sysucc-311TCOSM5478949c.768C>Tp.F256FSubstitution - coding silent15:65077583-65077583+
OSCC-GB_00650111COSM4890537c.679C>Ap.L227MSubstitution - Missense15:65077494-65077494+
TCGA-AA-3662-01COSM3754414c.1200T>Cp.G400GSubstitution - coding silent15:65078015-65078015+
BD144TCOSM4694112c.1010G>Ap.R337QSubstitution - Missense15:65077825-65077825+
TCGA-D3-A51N-06COSM231328c.769G>Ap.D257NSubstitution - Missense15:65077584-65077584+
TCGA-G4-6298-01COSM3749304c.798A>Gp.E266ESubstitution - coding silent15:65077613-65077613+
TCGA-CD-A4MG-01COSM4056266c.1075G>Ap.G359RSubstitution - Missense15:65077890-65077890+
sysucc-880TCOSM4650354c.252C>Tp.C84CSubstitution - coding silent15:65077067-65077067+
sysucc-1397TCOSM5473637c.1050C>Tp.R350RSubstitution - coding silent15:65077865-65077865+
TCGA-BC-A112-01COSM4936612c.64C>Tp.R22CSubstitution - Missense15:65076879-65076879+
S01494COSM5668652c.556G>Ap.A186TSubstitution - Missense15:65077371-65077371+
TCGA-EI-6917-01COSM3420530c.1051G>Ap.D351NSubstitution - Missense15:65077866-65077866+
TCGA-AA-3713-01COSM3749304c.798A>Gp.E266ESubstitution - coding silent15:65077613-65077613+
TCGA-AY-6196-01COSM3749304c.798A>Gp.E266ESubstitution - coding silent15:65077613-65077613+
CSCC-45-TCOSM4530448c.169G>Tp.G57CSubstitution - Missense15:65076984-65076984+
0006_CRUK_PC_0006_T4_DNACOSM3849545c.153C>Tp.G51GSubstitution - coding silent15:65076968-65076968+
ME100LCOSM231328c.769G>Ap.D257NSubstitution - Missense15:65077584-65077584+
BD87TCOSM5505381c.516C>Gp.D172ESubstitution - Missense15:65077331-65077331+
Gp5DCOSM2256270c.1095G>Ap.L365LSubstitution - coding silent15:65077910-65077910+
PCSI_0224_Pa_P_526COSM3786551c.783C>Tp.Y261YSubstitution - coding silent15:65077598-65077598+
RK308_C01COSM3744705c.543C>Tp.D181DSubstitution - coding silent15:65077358-65077358+
PTC-7CCOSM3754413c.378G>Tp.A126ASubstitution - coding silent15:65077193-65077193+
TCGA-CI-6624-01COSM3749303c.242C>Tp.A81VSubstitution - Missense15:65077057-65077057+
ESCC_BICR_028TCOSM5431704c.390C>Tp.C130CSubstitution - coding silent15:65077205-65077205+
PTC-10CCOSM3749303c.242C>Tp.A81VSubstitution - Missense15:65077057-65077057+
TCGA-FW-A3R5-06COSM3887309c.1278G>Ap.E426ESubstitution - coding silent15:65078093-65078093+
KPOPBR-27-TCOSM5965994c.1003G>Ap.E335KSubstitution - Missense15:65077818-65077818+
ESCC_170COSM5649227c.869A>Cp.D290ASubstitution - Missense15:65077684-65077684+
TCGA-AH-6644-01COSM3749304c.798A>Gp.E266ESubstitution - coding silent15:65077613-65077613+
TCGA-AA-3663-01COSM3749304c.798A>Gp.E266ESubstitution - coding silent15:65077613-65077613+
SC_9103COSM5554891c.607G>Ap.G203RSubstitution - Missense15:65077422-65077422+
TCGA-AA-3713-01COSM3749303c.242C>Tp.A81VSubstitution - Missense15:65077057-65077057+
TCGA-DY-A0XA-01COSM3749304c.798A>Gp.E266ESubstitution - coding silent15:65077613-65077613+
T2940COSM4694110c.162C>Tp.S54SSubstitution - coding silent15:65076977-65076977+
TCGA-CA-6717-01COSM3749303c.242C>Tp.A81VSubstitution - Missense15:65077057-65077057+
I2L-P7-Tumor-OrganoidCOSM5363162c.776G>Ap.R259HSubstitution - Missense15:65077591-65077591+
TCGA-AZ-5407-01COSM3749303c.242C>Tp.A81VSubstitution - Missense15:65077057-65077057+
TCGA-G5-6233-01COSM3749303c.242C>Tp.A81VSubstitution - Missense15:65077057-65077057+
TCGA-AU-6004-01COSM3749304c.798A>Gp.E266ESubstitution - coding silent15:65077613-65077613+
LS174TCOSM4645901c.791G>Ap.G264DSubstitution - Missense15:65077606-65077606+
446COSM4434959c.334G>Ap.A112TSubstitution - Missense15:65077149-65077149+
TCGA-E2-A574-01COSM3816555c.1179C>Tp.L393LSubstitution - coding silent15:65077994-65077994+
CHC322TCOSM3754413c.378G>Tp.A126ASubstitution - coding silent15:65077193-65077193+
ESO-717COSM1242401c.1140G>Ap.T380TSubstitution - coding silent15:65077955-65077955+
ESCC_158COSM5646655c.415G>Ap.E139KSubstitution - Missense15:65077230-65077230+
TCGA-CM-6680-01COSM3749304c.798A>Gp.E266ESubstitution - coding silent15:65077613-65077613+
I2L-P19Tb-Tumor-OrganoidCOSM5362970c.844G>Ap.A282TSubstitution - Missense15:65077659-65077659+
TCGA-AU-6004-01COSM3749303c.242C>Tp.A81VSubstitution - Missense15:65077057-65077057+
TCGA-EE-A29M-06COSM3503140c.1123G>Ap.A375TSubstitution - Missense15:65077938-65077938+
TCGA-AD-6965-01COSM3754413c.378G>Tp.A126ASubstitution - coding silent15:65077193-65077193+
SC_9080COSM5549746c.1175C>Tp.A392VSubstitution - Missense15:65077990-65077990+
T1772COSM4694111c.604G>Ap.A202TSubstitution - Missense15:65077419-65077419+
T3658COSM4694112c.1010G>Ap.R337QSubstitution - Missense15:65077825-65077825+
Gp2DCOSM2256270c.1095G>Ap.L365LSubstitution - coding silent15:65077910-65077910+
CHC1715TCOSM5347673c.1005_1015del11p.E335fs*63Deletion - Frameshift15:65077820-65077830+
BD57TCOSM5510741c.485C>Tp.T162MSubstitution - Missense15:65077300-65077300+
LUAD-B00416COSM355384c.1306T>Gp.L436VSubstitution - Missense15:65078121-65078121+
PTC-7CCOSM3754414c.1200T>Cp.G400GSubstitution - coding silent15:65078015-65078015+
TCGA-G4-6321-01COSM3754414c.1200T>Cp.G400GSubstitution - coding silent15:65078015-65078015+
CHC320TCOSM3667741c.393C>Tp.D131DSubstitution - coding silent15:65077208-65077208+
TCGA-AY-6197-01COSM3754414c.1200T>Cp.G400GSubstitution - coding silent15:65078015-65078015+
sysucc-1370TCOSM5470374c.477C>Tp.A159ASubstitution - coding silent15:65077292-65077292+
BD236TCOSM5519324c.1293G>Ap.P431PSubstitution - coding silent15:65078108-65078108+
ESCC_103COSM5638147c.249G>Ap.E83ESubstitution - coding silent15:65077064-65077064+
AD17COSM5966257c.55C>Ap.Q19KSubstitution - Missense15:65076870-65076870+
T4COSM5342613c.145C>Tp.R49CSubstitution - Missense15:65076960-65076960+
BD144TCOSM5507324c.969C>Tp.Y323YSubstitution - coding silent15:65077784-65077784+
TCGA-EE-A3J5-06COSM3503141c.1171G>Ap.G391RSubstitution - Missense15:65077986-65077986+
C086COSM5532995c.1120C>Tp.L374LSubstitution - coding silent15:65077935-65077935+
TCGA-AZ-5407-01COSM3749304c.798A>Gp.E266ESubstitution - coding silent15:65077613-65077613+
587332COSM1211372c.103C>Tp.L35FSubstitution - Missense15:65076918-65076918+
I2L-P19Tb-Tumor-BiopsyCOSM5362970c.844G>Ap.A282TSubstitution - Missense15:65077659-65077659+
TCGA-FW-A3R5-06COSM3887308c.964G>Ap.E322KSubstitution - Missense15:65077779-65077779+
TCGA-EE-A3J3-06COSM3887307c.108C>Tp.F36FSubstitution - coding silent15:65076923-65076923+
TCGA-CD-A4MG-01COSM4056265c.164C>Tp.A55VSubstitution - Missense15:65076979-65076979+
Gp2DCOSM4627333c.23T>Cp.L8PSubstitution - Missense15:65076838-65076838+
TCGA-22-4593-01COSM700696c.889G>Ap.G297SSubstitution - Missense15:65077704-65077704+
CHC320TCOSM3667741c.393C>Tp.D131DSubstitution - coding silent15:65077208-65077208+
ML_79_T_01COSM5034348c.695A>Cp.D232ASubstitution - Missense15:65077510-65077510+
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.586880;Hs.586881;Hs.586884;Hs.58689015q22.31613727
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
C-Frameshiftp.R22Afs*32c.64delC1565369216HNSC
CT3-UTRSNV.c.1374+1595C>T1565372122ALL
CTSynonymousp.F36Fc.108C>T1565369261CM
CTSynonymousp.G418Gc.1254C>T1565370407HNSC
CTSynonymousp.I369Ic.1107C>T1565370260CM
GAMissensep.A375Tc.1123G>A1565370276CM
GAMissensep.G297Sc.889G>A1565370042LUSC
GAMissensep.G391Rc.1171G>A1565370324CM