LRR1
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA145007421350074213+SilentSNPGGATCGA-DK-A1AB-01A-11D-A13W-08TCGA-DK-A1AB-10A-01D-A13W-08g.chr14:50074213G>Ac.378G>Ac.(376-378)gtG>gtAp.V126V
BLCA145007450750074507+SilentSNPCCGTCGA-2F-A9KO-01A-11D-A38G-08TCGA-2F-A9KO-11A-12D-A38J-08g.chr14:50074507C>Gc.672C>Gc.(670-672)ctC>ctGp.L224L
BLCA145007458350074583+Missense_MutationSNPGGATCGA-DK-A3WW-01A-22D-A23M-08TCGA-DK-A3WW-10A-01D-A23K-08g.chr14:50074583G>Ac.748G>Ac.(748-750)Gaa>Aaap.E250K
BRCA145006585650065856+Nonsense_MutationSNPCCTTCGA-BH-A0DX-01A-11D-A10Y-09TCGA-BH-A0DX-10A-02D-A110-09g.chr14:50065856C>Tc.118C>Tc.(118-120)Cag>Tagp.Q40*
BRCA145006589350065893+Missense_MutationSNPTTCTCGA-D8-A1XK-01A-21D-A14K-09TCGA-D8-A1XK-10A-01D-A14K-09g.chr14:50065893T>Cc.155T>Cc.(154-156)cTg>cCgp.L52P
BRCA145006916350069163+Missense_MutationSNPCCTTCGA-BH-A1F8-01A-11D-A13L-09TCGA-BH-A1F8-11B-21D-A188-09g.chr14:50069163C>Tc.259C>Tc.(259-261)Cct>Tctp.P87S
BRCA145007411850074118+Splice_SiteSNPGGATCGA-AN-A046-01A-21W-A050-09TCGA-AN-A046-10A-01W-A055-09g.chr14:50074118G>Ac.283G>Ac.(283-285)Gcc>Accp.A95T
BRCA145007461050074610+Missense_MutationSNPAAGTCGA-AN-A0AK-01A-21W-A019-09TCGA-AN-A0AK-10A-01W-A021-09g.chr14:50074610A>Gc.775A>Gc.(775-777)Aat>Gatp.N259D
CESC145007429950074299+Missense_MutationSNPCCGTCGA-JX-A3Q0-01A-11D-A21Q-09TCGA-JX-A3Q0-10A-01D-A21Q-09g.chr14:50074299C>Gc.464C>Gc.(463-465)tCc>tGcp.S155C
COAD145007434950074349+Missense_MutationSNPCCTTCGA-A6-2671-01A-01D-1408-10TCGA-A6-2671-10A-01D-1408-10g.chr14:50074349C>Tc.514C>Tc.(514-516)Cgt>Tgtp.R172C
COAD145007434950074349+Missense_MutationSNPCCTTCGA-AA-3712-01A-21D-1719-10TCGA-AA-3712-11A-01D-1719-10g.chr14:50074349C>Tc.514C>Tc.(514-516)Cgt>Tgtp.R172C
COAD145007435050074350+Missense_MutationSNPGGATCGA-G4-6588-01A-11D-1771-10TCGA-G4-6588-10A-01D-1771-10g.chr14:50074350G>Ac.515G>Ac.(514-516)cGt>cAtp.R172H
COAD145007435150074351+SilentSNPTTCTCGA-D5-6926-01A-11D-1924-10TCGA-D5-6926-10A-01D-1924-10g.chr14:50074351T>Cc.516T>Cc.(514-516)cgT>cgCp.R172R
COAD145007435150074351+SilentSNPTTCTCGA-G4-6310-01A-11D-1719-10TCGA-G4-6310-10A-01D-1720-10g.chr14:50074351T>Cc.516T>Cc.(514-516)cgT>cgCp.R172R
COAD145007457250074572+Missense_MutationSNPGGATCGA-AA-A01P-01A-21W-A096-10TCGA-AA-A01P-11A-11W-A096-10g.chr14:50074572G>Ac.737G>Ac.(736-738)tGc>tAcp.C246Y
COAD145008102550081025+SilentSNPTTCTCGA-D5-6927-01A-21D-1924-10TCGA-D5-6927-10A-01D-1924-10g.chr14:50081025T>Cc.1056T>Cc.(1054-1056)gaT>gaCp.D352D
COAD145008113950081139+SilentSNPTTCTCGA-AA-3492-01A-01D-1408-10TCGA-AA-3492-11A-01D-1408-10g.chr14:50081139T>Cc.1170T>Cc.(1168-1170)ggT>ggCp.G390G
COADREAD145007434950074349+Missense_MutationSNPCCTTCGA-A6-2671-01A-01D-1408-10TCGA-A6-2671-10A-01D-1408-10g.chr14:50074349C>Tc.514C>Tc.(514-516)Cgt>Tgtp.R172C
COADREAD145007434950074349+Missense_MutationSNPCCTTCGA-AA-3712-01A-21D-1719-10TCGA-AA-3712-11A-01D-1719-10g.chr14:50074349C>Tc.514C>Tc.(514-516)Cgt>Tgtp.R172C
COADREAD145007435050074350+Missense_MutationSNPGGATCGA-G4-6588-01A-11D-1771-10TCGA-G4-6588-10A-01D-1771-10g.chr14:50074350G>Ac.515G>Ac.(514-516)cGt>cAtp.R172H
COADREAD145007435150074351+SilentSNPTTCTCGA-D5-6926-01A-11D-1924-10TCGA-D5-6926-10A-01D-1924-10g.chr14:50074351T>Cc.516T>Cc.(514-516)cgT>cgCp.R172R
COADREAD145007435150074351+SilentSNPTTCTCGA-G4-6310-01A-11D-1719-10TCGA-G4-6310-10A-01D-1720-10g.chr14:50074351T>Cc.516T>Cc.(514-516)cgT>cgCp.R172R
COADREAD145007457250074572+Missense_MutationSNPGGATCGA-AA-A01P-01A-21W-A096-10TCGA-AA-A01P-11A-11W-A096-10g.chr14:50074572G>Ac.737G>Ac.(736-738)tGc>tAcp.C246Y
COADREAD145008102550081025+SilentSNPTTCTCGA-D5-6927-01A-21D-1924-10TCGA-D5-6927-10A-01D-1924-10g.chr14:50081025T>Cc.1056T>Cc.(1054-1056)gaT>gaCp.D352D
COADREAD145008113950081139+SilentSNPTTCTCGA-AA-3492-01A-01D-1408-10TCGA-AA-3492-11A-01D-1408-10g.chr14:50081139T>Cc.1170T>Cc.(1168-1170)ggT>ggCp.G390G
HNSC145006911550069115+Missense_MutationSNPAATTCGA-QK-A8Z8-01A-11D-A391-08TCGA-QK-A8Z8-10A-01D-A394-08g.chr14:50069115A>Tc.211A>Tc.(211-213)Acc>Tccp.T71S
HNSC145006915650069156+Missense_MutationSNPGGTTCGA-HD-8224-01A-11D-2394-08TCGA-HD-8224-10A-01D-2394-08g.chr14:50069156G>Tc.252G>Tc.(250-252)aaG>aaTp.K84N
HNSC145007465950074659+Missense_MutationSNPGGTTCGA-IQ-A6SG-01A-12D-A34J-08TCGA-IQ-A6SG-10A-01D-A34M-08g.chr14:50074659G>Tc.824G>Tc.(823-825)cGc>cTcp.R275L
KIPAN145008104150081041+Missense_MutationSNPGGTTCGA-P4-A5EB-01A-11D-A28G-10TCGA-P4-A5EB-11A-11D-A28G-10g.chr14:50081041G>Tc.1072G>Tc.(1072-1074)Gtt>Tttp.V358F
KIRP145008104150081041+Missense_MutationSNPGGTTCGA-P4-A5EB-01A-11D-A28G-10TCGA-P4-A5EB-11A-11D-A28G-10g.chr14:50081041G>Tc.1072G>Tc.(1072-1074)Gtt>Tttp.V358F
LIHC145007417550074175+Missense_MutationSNPTTATCGA-DD-A4NK-01A-11D-A28X-10TCGA-DD-A4NK-10A-01D-A28X-10g.chr14:50074175T>Ac.340T>Ac.(340-342)Tgt>Agtp.C114S
LUAD145006918250069182+Missense_MutationSNPGGATCGA-MN-A4N4-01A-12D-A24P-08TCGA-MN-A4N4-10A-01D-A24P-08g.chr14:50069182G>Ac.278G>Ac.(277-279)aGt>aAtp.S93N
LUAD145007432850074328+Missense_MutationSNPGGATCGA-73-4670-01A-01D-1265-08TCGA-73-4670-11A-01D-1265-08g.chr14:50074328G>Ac.493G>Ac.(493-495)Ggg>Aggp.G165R
LUAD145007478850074788+Missense_MutationSNPAAGTCGA-05-4427-01A-21D-1855-08TCGA-05-4427-10A-01D-1855-08g.chr14:50074788A>Gc.953A>Gc.(952-954)cAa>cGap.Q318R
LUAD145008105150081051+Missense_MutationSNPGGCTCGA-69-7765-01A-11D-2167-08TCGA-69-7765-10A-01D-2167-08g.chr14:50081051G>Cc.1082G>Cc.(1081-1083)aGa>aCap.R361T
LUAD145008113750081137+Missense_MutationSNPGGTTCGA-91-7771-01A-11D-2167-08TCGA-91-7771-10A-01D-2167-08g.chr14:50081137G>Tc.1168G>Tc.(1168-1170)Ggt>Tgtp.G390C
LUSC145006583650065836+Missense_MutationSNPGGATCGA-21-1070-01A-01D-1521-08TCGA-21-1070-11A-01D-1521-08g.chr14:50065836G>Ac.98G>Ac.(97-99)tGt>tAtp.C33Y
LUSC145007471050074710+Missense_MutationSNPGGATCGA-34-5928-01A-11D-1817-08TCGA-34-5928-10A-01D-1817-08g.chr14:50074710G>Ac.875G>Ac.(874-876)aGa>aAap.R292K
SKCM145007462850074628+Missense_MutationSNPCCTTCGA-FS-A1ZW-06A-12D-A197-08TCGA-FS-A1ZW-10A-01D-A199-08g.chr14:50074628C>Tc.793C>Tc.(793-795)Cct>Tctp.P265S
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-CN145007487150074871single base substitutionCGdownstream_gene_variant
BLCA-CN145007487150074871single base substitutionCGintron_variant
BLCA-US145007421350074213single base substitutionGA3_prime_UTR_variant
BLCA-US145007421350074213single base substitutionGAexon_variant
BLCA-US145007421350074213single base substitutionGAintron_variant
BLCA-US145007421350074213single base substitutionGAsynonymous_variantV126V378G>A
BLCA-US145007458350074583single base substitutionGA3_prime_UTR_variant
BLCA-US145007458350074583single base substitutionGAdownstream_gene_variant
BLCA-US145007458350074583single base substitutionGAintron_variant
BLCA-US145007458350074583single base substitutionGAmissense_variantE250K748G>A
BRCA-EU145006134050061340single base substitutionACupstream_gene_variant
BRCA-EU145006343850063438single base substitutionATupstream_gene_variant
BRCA-EU145006479950064799single base substitutionGCupstream_gene_variant
BRCA-EU145006484550064845single base substitutionGAupstream_gene_variant
BRCA-EU145006594250065942single base substitutionCGintron_variant
BRCA-EU145006594250065942single base substitutionCGupstream_gene_variant
BRCA-EU145006658350066583single base substitutionGTintron_variant
BRCA-EU145006658350066583single base substitutionGTupstream_gene_variant
BRCA-EU145006684850066848single base substitutionAGintron_variant
BRCA-EU145006684850066848single base substitutionAGupstream_gene_variant
BRCA-EU145006735350067353single base substitutionGAexon_variant
BRCA-EU145006735350067353single base substitutionGAintron_variant
BRCA-EU145006896750068967single base substitutionGCintron_variant
BRCA-EU145006993250069932single base substitutionCGintron_variant
BRCA-EU145007368350073683single base substitutionATintron_variant
BRCA-EU145007375750073757single base substitutionTCintron_variant
BRCA-EU145007508650075086single base substitutionCGdownstream_gene_variant
BRCA-EU145007508650075086single base substitutionCGintron_variant
BRCA-EU145007510650075106single base substitutionCTdownstream_gene_variant
BRCA-EU145007510650075106single base substitutionCTintron_variant
BRCA-EU145007571750075717single base substitutionCTdownstream_gene_variant
BRCA-EU145007571750075717single base substitutionCTintron_variant
BRCA-EU145007680950076809deletion of <=200bpC-downstream_gene_variant
BRCA-EU145007680950076809deletion of <=200bpC-intron_variant
BRCA-EU145007830850078308single base substitutionGCdownstream_gene_variant
BRCA-EU145007830850078308single base substitutionGCintron_variant
BRCA-EU145007857150078571single base substitutionGCdownstream_gene_variant
BRCA-EU145007857150078571single base substitutionGCintron_variant
BRCA-EU145007925250079252insertion of <=200bp-A3_prime_UTR_variant
BRCA-EU145007925250079252insertion of <=200bp-Aintron_variant
BRCA-EU145008051250080512single base substitutionCGintron_variant
BRCA-EU145008079450080794single base substitutionACintron_variant
BRCA-EU145008089050080890single base substitutionCGintron_variant
BRCA-EU145008442050084420single base substitutionGCdownstream_gene_variant
BRCA-EU145008480950084809single base substitutionCTdownstream_gene_variant
BRCA-EU145008550550085505single base substitutionGCdownstream_gene_variant
BRCA-EU145008580150085801single base substitutionGAdownstream_gene_variant
BRCA-FR145006479950064799single base substitutionGCupstream_gene_variant
BRCA-FR145006735350067353single base substitutionGAexon_variant
BRCA-FR145006735350067353single base substitutionGAintron_variant
BRCA-FR145007125750071257single base substitutionACintron_variant
BRCA-FR145007510650075106single base substitutionCTdownstream_gene_variant
BRCA-FR145007510650075106single base substitutionCTintron_variant
BRCA-FR145007830850078308single base substitutionGCdownstream_gene_variant
BRCA-FR145007830850078308single base substitutionGCintron_variant
BRCA-FR145008141150081411single base substitutionTAdownstream_gene_variant
BRCA-FR145008550550085505single base substitutionGCdownstream_gene_variant
BRCA-UK145006993250069932single base substitutionCGintron_variant
BRCA-UK145007857150078571single base substitutionGCdownstream_gene_variant
BRCA-UK145007857150078571single base substitutionGCintron_variant
BRCA-US145006585650065856single base substitutionCTexon_variant
BRCA-US145006585650065856single base substitutionCTstop_gainedQ40*118C>T
BRCA-US145006585650065856single base substitutionCTupstream_gene_variant
BRCA-US145006589350065893single base substitutionTCexon_variant
BRCA-US145006589350065893single base substitutionTCmissense_variantL52P155T>C
BRCA-US145006589350065893single base substitutionTCupstream_gene_variant
BRCA-US145006916350069163single base substitutionCT3_prime_UTR_variant
BRCA-US145006916350069163single base substitutionCTexon_variant
BRCA-US145006916350069163single base substitutionCTintron_variant
BRCA-US145006916350069163single base substitutionCTmissense_variantP87S259C>T
BRCA-US145007411850074118single base substitutionGAintron_variant
BRCA-US145007411850074118single base substitutionGAmissense_variantA95T283G>A
BRCA-US145007411850074118single base substitutionGAsplice_region_variant
BRCA-US145007461050074610single base substitutionAG3_prime_UTR_variant
BRCA-US145007461050074610single base substitutionAGdownstream_gene_variant
BRCA-US145007461050074610single base substitutionAGintron_variant
BRCA-US145007461050074610single base substitutionAGmissense_variantN259D775A>G
BTCA-JP145006913850069138single base substitutionAT3_prime_UTR_variant
BTCA-JP145006913850069138single base substitutionATexon_variant
BTCA-JP145006913850069138single base substitutionATintron_variant
BTCA-JP145006913850069138single base substitutionATmissense_variantK78N234A>T
BTCA-JP145006918450069184single base substitutionAGintron_variant
BTCA-JP145006918450069184single base substitutionAGmissense_variantK94E280A>G
BTCA-JP145006918450069184single base substitutionAGsplice_region_variant
CESC-US145007429950074299single base substitutionCG3_prime_UTR_variant
CESC-US145007429950074299single base substitutionCGdownstream_gene_variant
CESC-US145007429950074299single base substitutionCGintron_variant
CESC-US145007429950074299single base substitutionCGmissense_variantS155C464C>G
CLLE-ES145006511650065116single base substitutionACupstream_gene_variant
CLLE-ES145006592850065928insertion of <=200bp-Gintron_variant
CLLE-ES145006592850065928insertion of <=200bp-Gupstream_gene_variant
COAD-US145007412250074122single base substitutionTA3_prime_UTR_variant
COAD-US145007412250074122single base substitutionTAexon_variant
COAD-US145007412250074122single base substitutionTAintron_variant
COAD-US145007412250074122single base substitutionTAmissense_variantI96N287T>A
COAD-US145007434950074349single base substitutionCT3_prime_UTR_variant
COAD-US145007434950074349single base substitutionCTdownstream_gene_variant
COAD-US145007434950074349single base substitutionCTintron_variant
COAD-US145007434950074349single base substitutionCTmissense_variantR172C514C>T
COAD-US145007452050074520single base substitutionCT3_prime_UTR_variant
COAD-US145007452050074520single base substitutionCTdownstream_gene_variant
COAD-US145007452050074520single base substitutionCTintron_variant
COAD-US145007452050074520single base substitutionCTmissense_variantR229W685C>T
COAD-US145008102550081025single base substitutionTC3_prime_UTR_variant
COAD-US145008102550081025single base substitutionTCmissense_variantY112H334T>C
COAD-US145008102550081025single base substitutionTCsynonymous_variantD352D1056T>C
COAD-US145008113950081139single base substitutionTC3_prime_UTR_variant
COAD-US145008113950081139single base substitutionTCsynonymous_variantG390G1170T>C
COCA-CN145006496250064962single base substitutionGCupstream_gene_variant
COCA-CN145006526250065262single base substitutionCTupstream_gene_variant
COCA-CN145006536650065366single base substitutionCGupstream_gene_variant
COCA-CN145006544150065441single base substitutionGA5_prime_UTR_variant
COCA-CN145006544150065441single base substitutionGAupstream_gene_variant
COCA-CN145006700050067000single base substitutionCTintron_variant
COCA-CN145006700050067000single base substitutionCTupstream_gene_variant
COCA-CN145006925450069254single base substitutionTGintron_variant
COCA-CN145007424350074243single base substitutionTG3_prime_UTR_variant
COCA-CN145007424350074243single base substitutionTGdownstream_gene_variant
COCA-CN145007424350074243single base substitutionTGintron_variant
COCA-CN145007424350074243single base substitutionTGsynonymous_variantT136T408T>G
COCA-CN145007451550074515single base substitutionCA3_prime_UTR_variant
COCA-CN145007451550074515single base substitutionCAdownstream_gene_variant
COCA-CN145007451550074515single base substitutionCAintron_variant
COCA-CN145007451550074515single base substitutionCAstop_gainedS227*680C>A
COCA-CN145008124050081240single base substitutionCA3_prime_UTR_variant
EOPC-DE145007154650071546single base substitutionTCintron_variant
ESAD-UK145006285050062850single base substitutionCTupstream_gene_variant
ESAD-UK145006453650064536single base substitutionTGupstream_gene_variant
ESAD-UK145006794150067941single base substitutionATintron_variant
ESAD-UK145006819050068190single base substitutionACintron_variant
ESAD-UK145006845850068458single base substitutionTCintron_variant
ESAD-UK145007115650071156single base substitutionGAintron_variant
ESAD-UK145007136550071365single base substitutionGTintron_variant
ESAD-UK145007397850073978deletion of <=200bpA-intron_variant
ESAD-UK145007767650077676single base substitutionGCdownstream_gene_variant
ESAD-UK145007767650077676single base substitutionGCintron_variant
ESAD-UK145007806550078065single base substitutionCTdownstream_gene_variant
ESAD-UK145007806550078065single base substitutionCTintron_variant
ESAD-UK145008003250080032single base substitutionGAintron_variant
ESAD-UK145008411150084114deletion of <=200bpGTGA-downstream_gene_variant
ESAD-UK145008475250084752single base substitutionGTdownstream_gene_variant
ESCA-CN145007452050074520single base substitutionCT3_prime_UTR_variant
ESCA-CN145007452050074520single base substitutionCTdownstream_gene_variant
ESCA-CN145007452050074520single base substitutionCTintron_variant
ESCA-CN145007452050074520single base substitutionCTmissense_variantR229W685C>T
KIRP-US145008104150081041single base substitutionGT3_prime_UTR_variant
KIRP-US145008104150081041single base substitutionGTmissense_variantC117F350G>T
KIRP-US145008104150081041single base substitutionGTmissense_variantV358F1072G>T
LICA-CN145007468250074682single base substitutionAT3_prime_UTR_variant
LICA-CN145007468250074682single base substitutionATdownstream_gene_variant
LICA-CN145007468250074682single base substitutionATintron_variant
LICA-CN145007468250074682single base substitutionATstop_gainedK283*847A>T
LICA-FR145007336850073370deletion of <=200bpTTT-intron_variant
LICA-FR145007455050074550single base substitutionAC3_prime_UTR_variant
LICA-FR145007455050074550single base substitutionACdownstream_gene_variant
LICA-FR145007455050074550single base substitutionACintron_variant
LICA-FR145007455050074550single base substitutionACmissense_variantK239Q715A>C
LIHC-US145007417550074175single base substitutionTA3_prime_UTR_variant
LIHC-US145007417550074175single base substitutionTAexon_variant
LIHC-US145007417550074175single base substitutionTAintron_variant
LIHC-US145007417550074175single base substitutionTAmissense_variantC114S340T>A
LINC-JP145006767150067671single base substitutionATintron_variant
LINC-JP145007423050074230deletion of <=200bpA-3_prime_UTR_variant
LINC-JP145007423050074230deletion of <=200bpA-downstream_gene_variant
LINC-JP145007423050074230deletion of <=200bpA-frameshift_variantE132
LINC-JP145007423050074230deletion of <=200bpA-intron_variant
LIRI-JP145006223550062235single base substitutionGAupstream_gene_variant
LIRI-JP145006297150062971single base substitutionGAupstream_gene_variant
LIRI-JP145006475750064757single base substitutionTCupstream_gene_variant
LIRI-JP145006512450065124single base substitutionTGupstream_gene_variant
LIRI-JP145006763050067630single base substitutionACintron_variant
LIRI-JP145006778150067781single base substitutionAGintron_variant
LIRI-JP145006995650069956single base substitutionAGintron_variant
LIRI-JP145007122050071220single base substitutionTCintron_variant
LIRI-JP145007280950072809single base substitutionAGintron_variant
LIRI-JP145007519150075191single base substitutionATdownstream_gene_variant
LIRI-JP145007519150075191single base substitutionATintron_variant
LIRI-JP145007738050077380single base substitutionAGdownstream_gene_variant
LIRI-JP145007738050077380single base substitutionAGintron_variant
LIRI-JP145007834250078342single base substitutionACdownstream_gene_variant
LIRI-JP145007834250078342single base substitutionACintron_variant
LIRI-JP145007835950078359single base substitutionGAdownstream_gene_variant
LIRI-JP145007835950078359single base substitutionGAintron_variant
LIRI-JP145008289250082892single base substitutionTCdownstream_gene_variant
LIRI-JP145008349950083499single base substitutionGCdownstream_gene_variant
LIRI-JP145008364350083643single base substitutionGAdownstream_gene_variant
LIRI-JP145008371050083710single base substitutionAGdownstream_gene_variant
LIRI-JP145008373150083731single base substitutionGCdownstream_gene_variant
LIRI-JP145008433250084332single base substitutionTCdownstream_gene_variant
LIRI-JP145008452950084529single base substitutionTGdownstream_gene_variant
LIRI-JP145008533350085333single base substitutionACdownstream_gene_variant
LIRI-JP145008561350085613single base substitutionCAdownstream_gene_variant
LUSC-KR145006707750067077single base substitutionGAintron_variant
LUSC-KR145006707750067077single base substitutionGAupstream_gene_variant
LUSC-KR145006931650069316single base substitutionGAintron_variant
LUSC-KR145007426950074269single base substitutionAG3_prime_UTR_variant
LUSC-KR145007426950074269single base substitutionAGdownstream_gene_variant
LUSC-KR145007426950074269single base substitutionAGintron_variant
LUSC-KR145007426950074269single base substitutionAGmissense_variantD145G434A>G
LUSC-KR145007648750076487single base substitutionGTdownstream_gene_variant
LUSC-KR145007648750076487single base substitutionGTintron_variant
LUSC-KR145008439450084394single base substitutionCGdownstream_gene_variant
LUSC-KR145008467450084674single base substitutionATdownstream_gene_variant
LUSC-KR145008595650085956single base substitutionATdownstream_gene_variant
LUSC-US145006583650065836single base substitutionGAexon_variant
LUSC-US145006583650065836single base substitutionGAmissense_variantC33Y98G>A
LUSC-US145006583650065836single base substitutionGAupstream_gene_variant
LUSC-US145007471050074710single base substitutionGA3_prime_UTR_variant
LUSC-US145007471050074710single base substitutionGAdownstream_gene_variant
LUSC-US145007471050074710single base substitutionGAintron_variant
LUSC-US145007471050074710single base substitutionGAmissense_variantR292K875G>A
MALY-DE145006050150060501single base substitutionAGupstream_gene_variant
MALY-DE145006120850061208single base substitutionACupstream_gene_variant
MALY-DE145006574550065745single base substitutionCTexon_variant
MALY-DE145006574550065745single base substitutionCTsynonymous_variantL3L7C>T
MALY-DE145006574550065745single base substitutionCTupstream_gene_variant
MALY-DE145007154650071546single base substitutionTCintron_variant
MALY-DE145007309450073094single base substitutionTGintron_variant
MALY-DE145007379850073798single base substitutionGTintron_variant
MELA-AU145006063950060639single base substitutionGAupstream_gene_variant
MELA-AU145006244950062449single base substitutionGCupstream_gene_variant
MELA-AU145006403650064036single base substitutionAGupstream_gene_variant
MELA-AU145006817750068177single base substitutionTCintron_variant
MELA-AU145006898250068982single base substitutionAGintron_variant
MELA-AU145006920750069207single base substitutionAGintron_variant
MELA-AU145007154650071546single base substitutionTCintron_variant
MELA-AU145007193550071935single base substitutionCTintron_variant
MELA-AU145007246550072465single base substitutionCTintron_variant
MELA-AU145007297150072971single base substitutionCTintron_variant
MELA-AU145007348550073485single base substitutionCTintron_variant
MELA-AU145007381750073817single base substitutionCTintron_variant
MELA-AU145007429250074292single base substitutionCT3_prime_UTR_variant
MELA-AU145007429250074292single base substitutionCTdownstream_gene_variant
MELA-AU145007429250074292single base substitutionCTintron_variant
MELA-AU145007429250074292single base substitutionCTmissense_variantP153S457C>T
MELA-AU145007455850074558single base substitutionCT3_prime_UTR_variant
MELA-AU145007455850074558single base substitutionCTdownstream_gene_variant
MELA-AU145007455850074558single base substitutionCTintron_variant
MELA-AU145007455850074558single base substitutionCTsynonymous_variantL241L723C>T
MELA-AU145007471950074719single base substitutionCT3_prime_UTR_variant
MELA-AU145007471950074719single base substitutionCTdownstream_gene_variant
MELA-AU145007471950074719single base substitutionCTintron_variant
MELA-AU145007471950074719single base substitutionCTmissense_variantS295F884C>T
MELA-AU145007528850075288single base substitutionCTdownstream_gene_variant
MELA-AU145007528850075288single base substitutionCTintron_variant
MELA-AU145007615150076151single base substitutionCTdownstream_gene_variant
MELA-AU145007615150076151single base substitutionCTintron_variant
MELA-AU145007627650076276single base substitutionCTdownstream_gene_variant
MELA-AU145007627650076276single base substitutionCTintron_variant
MELA-AU145007645250076452single base substitutionCTdownstream_gene_variant
MELA-AU145007645250076452single base substitutionCTintron_variant
MELA-AU145007652450076524single base substitutionCTdownstream_gene_variant
MELA-AU145007652450076524single base substitutionCTintron_variant
MELA-AU145007696350076963deletion of <=200bpG-downstream_gene_variant
MELA-AU145007696350076963deletion of <=200bpG-intron_variant
MELA-AU145007696550076965single base substitutionGTdownstream_gene_variant
MELA-AU145007696550076965single base substitutionGTintron_variant
MELA-AU145007799050077990single base substitutionCTdownstream_gene_variant
MELA-AU145007799050077990single base substitutionCTintron_variant
MELA-AU145007812750078127single base substitutionATdownstream_gene_variant
MELA-AU145007812750078127single base substitutionATintron_variant
MELA-AU145007813050078130single base substitutionTCdownstream_gene_variant
MELA-AU145007813050078130single base substitutionTCintron_variant
MELA-AU145007827550078275single base substitutionCTdownstream_gene_variant
MELA-AU145007827550078275single base substitutionCTintron_variant
MELA-AU145007905050079050single base substitutionCTdownstream_gene_variant
MELA-AU145007905050079050single base substitutionCTintron_variant
MELA-AU145008107050081070single base substitutionCT3_prime_UTR_variant
MELA-AU145008107050081070single base substitutionCTmissense_variantH127Y379C>T
MELA-AU145008107050081070single base substitutionCTsynonymous_variantF367F1101C>T
MELA-AU145008178150081781single base substitutionCTdownstream_gene_variant
MELA-AU145008251550082515single base substitutionATdownstream_gene_variant
MELA-AU145008317050083170single base substitutionGAdownstream_gene_variant
MELA-AU145008348450083484single base substitutionGAdownstream_gene_variant
MELA-AU145008380950083809single base substitutionGAdownstream_gene_variant
MELA-AU145008458050084580single base substitutionGAdownstream_gene_variant
MELA-AU145008499950084999single base substitutionCTdownstream_gene_variant
MELA-AU145008578150085781single base substitutionCAdownstream_gene_variant
ORCA-IN145006625450066254single base substitutionGAintron_variant
ORCA-IN145006625450066254single base substitutionGAupstream_gene_variant
ORCA-IN145007275150072751deletion of <=200bpC-intron_variant
ORCA-IN145007579650075796single base substitutionTCdownstream_gene_variant
ORCA-IN145007579650075796single base substitutionTCintron_variant
ORCA-IN145007649250076492single base substitutionCTdownstream_gene_variant
ORCA-IN145007649250076492single base substitutionCTintron_variant
ORCA-IN145008275050082750single base substitutionGCdownstream_gene_variant
OV-AU145006681750066817single base substitutionGAintron_variant
OV-AU145006681750066817single base substitutionGAupstream_gene_variant
OV-AU145007228550072285single base substitutionGCintron_variant
OV-AU145007320550073205single base substitutionCTintron_variant
PACA-AU145006181250061812single base substitutionAGupstream_gene_variant
PACA-AU145006345750063457single base substitutionCTupstream_gene_variant
PACA-AU145006527250065272single base substitutionGAupstream_gene_variant
PACA-AU145006776550067765single base substitutionTCintron_variant
PACA-AU145006954750069550deletion of <=200bpTTTG-intron_variant
PACA-AU145007050550070505single base substitutionGAintron_variant
PACA-AU145007337450073374single base substitutionTAintron_variant
PACA-AU145007571850075718single base substitutionGAdownstream_gene_variant
PACA-AU145007571850075718single base substitutionGAintron_variant
PACA-AU145007663350076633single base substitutionCGdownstream_gene_variant
PACA-AU145007663350076633single base substitutionCGintron_variant
PACA-AU145007847950078479deletion of <=200bpA-downstream_gene_variant
PACA-AU145007847950078479deletion of <=200bpA-intron_variant
PACA-AU145008481450084814single base substitutionTCdownstream_gene_variant
PACA-CA145006471950064719single base substitutionATupstream_gene_variant
PACA-CA145006906250069062insertion of <=200bp-Tintron_variant
PACA-CA145006961650069616single base substitutionCTintron_variant
PACA-CA145007109550071095single base substitutionGAintron_variant
PACA-CA145007202950072029insertion of <=200bp-Tintron_variant
PACA-CA145007280850072808single base substitutionGAintron_variant
PACA-CA145007452750074527single base substitutionTA3_prime_UTR_variant
PACA-CA145007452750074527single base substitutionTAdownstream_gene_variant
PACA-CA145007452750074527single base substitutionTAintron_variant
PACA-CA145007452750074527single base substitutionTAstop_gainedL231*692T>A
PACA-CA145007513650075136single base substitutionTAdownstream_gene_variant
PACA-CA145007513650075136single base substitutionTAintron_variant
PACA-CA145007619150076191single base substitutionCTdownstream_gene_variant
PACA-CA145007619150076191single base substitutionCTintron_variant
PACA-CA145008048350080483single base substitutionCTintron_variant
PACA-CA145008058050080580single base substitutionGCintron_variant
PACA-CA145008638050086380single base substitutionAGdownstream_gene_variant
PAEN-AU145007268850072688insertion of <=200bp-TTintron_variant
PAEN-IT145008534950085349single base substitutionTCdownstream_gene_variant
PBCA-DE145007154650071546single base substitutionTCintron_variant
PBCA-DE145008039550080395single base substitutionGAintron_variant
PRAD-CA145006599550065995single base substitutionCTintron_variant
PRAD-CA145006599550065995single base substitutionCTupstream_gene_variant
PRAD-CA145007275150072751single base substitutionCTintron_variant
PRAD-UK145007045850070458single base substitutionCGintron_variant
PRAD-UK145007919850079198single base substitutionAG3_prime_UTR_variant
PRAD-UK145007919850079198single base substitutionAGdownstream_gene_variant
PRAD-UK145007919850079198single base substitutionAGintron_variant
PRAD-UK145008325750083257single base substitutionCTdownstream_gene_variant
READ-US145007473650074736single base substitutionCA3_prime_UTR_variant
READ-US145007473650074736single base substitutionCAdownstream_gene_variant
READ-US145007473650074736single base substitutionCAintron_variant
READ-US145007473650074736single base substitutionCAmissense_variantL301I901C>A
RECA-EU145006542250065422single base substitutionGT5_prime_UTR_variant
RECA-EU145006542250065422single base substitutionGTupstream_gene_variant
RECA-EU145006542350065423single base substitutionCT5_prime_UTR_premature_start_codon_gain_variant
RECA-EU145006542350065423single base substitutionCTupstream_gene_variant
RECA-EU145006986850069868single base substitutionTCintron_variant
RECA-EU145007024450070244single base substitutionTCintron_variant
RECA-EU145008252850082528single base substitutionTCdownstream_gene_variant
SKCA-BR145006363650063636insertion of <=200bp-CTupstream_gene_variant
SKCA-BR145006853450068535deletion of <=200bpTA-intron_variant
SKCA-BR145007022950070229insertion of <=200bp-TTTCintron_variant
SKCA-BR145007024150070245deletion of <=200bpCTTTT-intron_variant
SKCA-BR145007024450070244single base substitutionTCintron_variant
SKCA-BR145007042450070428deletion of <=200bpTTTAA-intron_variant
SKCA-BR145007487350074873single base substitutionTAdownstream_gene_variant
SKCA-BR145007487350074873single base substitutionTAintron_variant
SKCA-BR145007531050075310single base substitutionACdownstream_gene_variant
SKCA-BR145007531050075310single base substitutionACintron_variant
SKCA-BR145007531950075319single base substitutionCTdownstream_gene_variant
SKCA-BR145007531950075319single base substitutionCTintron_variant
SKCA-BR145007696550076965insertion of <=200bp-GTdownstream_gene_variant
SKCA-BR145007696550076965insertion of <=200bp-GTintron_variant
SKCA-BR145007887350078873single base substitutionGAdownstream_gene_variant
SKCA-BR145007887350078873single base substitutionGAintron_variant
SKCA-BR145008025050080250single base substitutionTGintron_variant
SKCA-BR145008062550080625single base substitutionGCintron_variant
SKCA-BR145008208450082084insertion of <=200bp-CTdownstream_gene_variant
SKCM-US145007462850074628single base substitutionCT3_prime_UTR_variant
SKCM-US145007462850074628single base substitutionCTdownstream_gene_variant
SKCM-US145007462850074628single base substitutionCTintron_variant
SKCM-US145007462850074628single base substitutionCTmissense_variantP265S793C>T
SKCM-US145008580250085802single base substitutionGAdownstream_gene_variant
STAD-US145007422250074222single base substitutionAG3_prime_UTR_variant
STAD-US145007422250074222single base substitutionAGexon_variant
STAD-US145007422250074222single base substitutionAGintron_variant
STAD-US145007422250074222single base substitutionAGsynonymous_variantS129S387A>G
STAD-US145007433750074337single base substitutionCT3_prime_UTR_variant
STAD-US145007433750074337single base substitutionCTdownstream_gene_variant
STAD-US145007433750074337single base substitutionCTintron_variant
STAD-US145007433750074337single base substitutionCTstop_gainedR168*502C>T
THCA-US145008572650085726single base substitutionACdownstream_gene_variant
UCEC-US145007414450074144single base substitutionCA3_prime_UTR_variant
UCEC-US145007414450074144single base substitutionCAexon_variant
UCEC-US145007414450074144single base substitutionCAintron_variant
UCEC-US145007414450074144single base substitutionCAmissense_variantF103L309C>A
UCEC-US145007433750074337single base substitutionCT3_prime_UTR_variant
UCEC-US145007433750074337single base substitutionCTdownstream_gene_variant
UCEC-US145007433750074337single base substitutionCTintron_variant
UCEC-US145007433750074337single base substitutionCTstop_gainedR168*502C>T
UCEC-US145008098550080985single base substitutionGC3_prime_UTR_variant
UCEC-US145008098550080985single base substitutionGCmissense_variantG339A1016G>C
UCEC-US145008098550080985single base substitutionGCmissense_variantW98C294G>C
UCEC-US145008552050085520single base substitutionGAdownstream_gene_variant
UCEC-US145008565350085653single base substitutionCTdownstream_gene_variant
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
YUMERCOSM1707306c.457C>Tp.P153SSubstitution - Missense14:49607574-49607574+
TCGA-A3-3316-01COSM1493275c.525C>Ap.C175*Substitution - Nonsense14:49607642-49607642+
TCGA-21-1070-01COSM698485c.98G>Ap.C33YSubstitution - Missense14:49599118-49599118+
CSCC-38-TCOSM4511913c.884C>Tp.S295FSubstitution - Missense14:49608001-49608001+
LC_S28COSM1188813c.80G>Cp.R27PSubstitution - Missense14:49599100-49599100+
Gp5DCOSM2197974c.1208T>Cp.L403PSubstitution - Missense14:49614459-49614459+
Au4COSM5604001c.1101C>Tp.F367FSubstitution - coding silent14:49614352-49614352+
TCGA-A3-3362-01COSM469987c.374C>Ap.P125QSubstitution - Missense14:49607491-49607491+
TCGA-CD-8529-01COSM4050976c.387A>Gp.S129SSubstitution - coding silent14:49607504-49607504+
TCGA-AP-A056-01COSM955932c.1016G>Cp.G339ASubstitution - Missense14:49614267-49614267+
WA46COSM237680c.318T>Ap.A106ASubstitution - coding silent14:49607435-49607435+
HT115COSM2197965c.612A>Gp.E204ESubstitution - coding silent14:49607729-49607729+
Gp2DCOSM2197974c.1208T>Cp.L403PSubstitution - Missense14:49614459-49614459+
TCGA-AX-A0J0-01COSM955930c.309C>Ap.F103LSubstitution - Missense14:49607426-49607426+
pfg053TCOSM4747195c.903_914del12p.G303_F306delGNTFDeletion - In frame14:49608020-49608031+
TCGA-DK-A1AB-01COSM416684c.378G>Ap.V126VSubstitution - coding silent14:49607495-49607495+
BD72TCOSM5513036c.234A>Tp.K78NSubstitution - Missense14:49602420-49602420+
J80_TCOSM3956062c.434A>Gp.D145GSubstitution - Missense14:49607551-49607551+
LUAD-CHTN-3090415COSM357229c.1060G>Ap.A354TSubstitution - Missense14:49614311-49614311+
tumor_4159421COSM5946660c.7C>Tp.L3LSubstitution - coding silent14:49599027-49599027+
CHC2110TbisCOSM4957683c.715A>Cp.K239QSubstitution - Missense14:49607832-49607832+
MOLT-4COSM1677961c.808C>Tp.Q270*Substitution - Nonsense14:49607925-49607925+
202_TCOSM3956061c.331C>Tp.H111YSubstitution - Missense14:49607448-49607448+
44_TCOSM3956063c.495G>Tp.G165GSubstitution - coding silent14:49607612-49607612+
TCGA-A5-A0VP-01COSM955931c.502C>Tp.R168*Substitution - Nonsense14:49607619-49607619+
TCGA-F5-6814-01COSM3419823c.901C>Ap.L301ISubstitution - Missense14:49608018-49608018+
PA285COSM1163706c.427delAp.D145fs*4Deletion - Frameshift14:49607544-49607544+
TCGA-BH-A0DX-01COSM433095c.118C>Tp.Q40*Substitution - Nonsense14:49599138-49599138+
CSCC-31-TCOSM4456436c.1009C>Tp.P337SSubstitution - Missense14:49614260-49614260+
ZZUFHECRKL-G060TCOSM3736104c.685C>Tp.R229WSubstitution - Missense14:49607802-49607802+
CHC2110TbisCOSM4957683c.715A>Cp.K239QSubstitution - Missense14:49607832-49607832+
HCC36TCOSM1607692c.395delAp.N133fs*16Deletion - Frameshift14:49607512-49607512+
TCGA-DD-A4NK-01COSM4935171c.340T>Ap.C114SSubstitution - Missense14:49607457-49607457+
SNUH_G76_S1COSM2197956c.208T>Cp.F70LSubstitution - Missense14:49602394-49602394+
T3603COSM1369910c.515G>Ap.R172HSubstitution - Missense14:49607632-49607632+
NCI-H1395COSM14021c.515G>Tp.R172LSubstitution - Missense14:49607632-49607632+
PCSI_0090_Pa_XCOSM3377411c.692T>Ap.L231*Substitution - Nonsense14:49607809-49607809+
pfg212TCOSM4754922c.506T>Ap.V169DSubstitution - Missense14:49607623-49607623+
TCGA-P4-A5EB-01COSM3987656c.1072G>Tp.V358FSubstitution - Missense14:49614323-49614323+
TCGA-AN-A0AK-01COSM3814842c.775A>Gp.N259DSubstitution - Missense14:49607892-49607892+
TCGA-CK-5916-01COSM1369909c.514C>Tp.R172CSubstitution - Missense14:49607631-49607631+
PT08_2COSM955931c.502C>Tp.R168*Substitution - Nonsense14:49607619-49607619+
TCGA-JX-A3Q0-01COSM4824654c.464C>Gp.S155CSubstitution - Missense14:49607581-49607581+
TCGA-BH-A1F8-01COSM1477580c.259C>Tp.P87SSubstitution - Missense14:49602445-49602445+
07-058COSM3736103c.287T>Ap.I96NSubstitution - Missense14:49607404-49607404+
587376COSM1221677c.110C>Tp.S37FSubstitution - Missense14:49599130-49599130+
HCC127TCOSM5822885c.847A>Tp.K283*Substitution - Nonsense14:49607964-49607964+
TCGA-FS-A1ZW-06COSM3496122c.793C>Tp.P265SSubstitution - Missense14:49607910-49607910+
TCGA-A6-2671-01COSM1369909c.514C>Tp.R172CSubstitution - Missense14:49607631-49607631+
TCGA-DK-A3WW-01COSM3793708c.748G>Ap.E250KSubstitution - Missense14:49607865-49607865+
pfg181TCOSM4765223c.427_428insAp.D145fs*6Insertion - Frameshift14:49607544-49607545+
07-058COSM3736104c.685C>Tp.R229WSubstitution - Missense14:49607802-49607802+
TCGA-34-5928-01COSM698484c.875G>Ap.R292KSubstitution - Missense14:49607992-49607992+
TCGA-CJ-5681-01COSM469988c.1136T>Cp.V379ASubstitution - Missense14:49614387-49614387+
TCGA-D8-A1XK-01COSM3814840c.155T>Cp.L52PSubstitution - Missense14:49599175-49599175+
TCGA-A3-3320-01COSM1493274c.1021C>Tp.H341YSubstitution - Missense14:49614272-49614272+
I2L-P7-Tumor-OrganoidCOSM5362635c.1111A>Gp.T371ASubstitution - Missense14:49614362-49614362+
TCGA-AA-3492-01COSM1369913c.1170T>Cp.G390GSubstitution - coding silent14:49614421-49614421+
sysucc-311TCOSM5478697c.680C>Ap.S227*Substitution - Nonsense14:49607797-49607797+
35MCOSM5581572c.251A>Cp.K84TSubstitution - Missense14:49602437-49602437+
PT48COSM5933294c.908G>Ap.G303ESubstitution - Missense14:49608025-49608025+
TCGA-BR-4363-01COSM955931c.502C>Tp.R168*Substitution - Nonsense14:49607619-49607619+
ESO-721COSM1262826c.1159G>Ap.D387NSubstitution - Missense14:49614410-49614410+
TCGA-AM-5820-01COSM3736103c.287T>Ap.I96NSubstitution - Missense14:49607404-49607404+
46MCOSM3496122c.793C>Tp.P265SSubstitution - Missense14:49607910-49607910+
BD165TCOSM5506451c.280A>Gp.K94ESubstitution - Missense14:49602466-49602466+
PDA_009COSM4998372c.833C>Tp.S278LSubstitution - Missense14:49607950-49607950+
HN_62539COSM125529c.1177G>Ap.E393KSubstitution - Missense14:49614428-49614428+
282-01-12TDCOSM5419351c.183+7_183+8insGp.?Unknown14:49599210-49599211+
TCGA-D5-6927-01COSM1369912c.1056T>Cp.D352DSubstitution - coding silent14:49614307-49614307+
PT08_1COSM955931c.502C>Tp.R168*Substitution - Nonsense14:49607619-49607619+
TCGA-AN-A046-01COSM3814841c.283G>Ap.A95TSubstitution - Missense14:49607400-49607400+
TCGA-AM-5820-01COSM3736104c.685C>Tp.R229WSubstitution - Missense14:49607802-49607802+
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.45109014q21.3609193
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
AGMissensep.Q318Rc.953A>G1450074788LUAD
CTMissensep.P265Sc.793C>T1450074628CM
CTMissensep.P87Sc.259C>T1450069163BRCA
CTNonsensep.Q40*c.118C>T1450065856BRCA
CTNonsensep.R168*c.502C>T1450074337STAD
CTNonsensep.R168*c.502C>T1450074337UCEC
GAMissensep.C33Yc.98G>A1450065836LUSC
GAMissensep.D387Nc.1159G>A1450081128ESCA
GAMissensep.E393Kc.1177G>A1450081146HNSC
GAMissensep.G165Rc.493G>A1450074328LUAD
GAMissensep.R292Kc.875G>A1450074710LUSC
GASynonymousp.V126Vc.378G>A1450074213BLCA
-TGGIntronicInsertion.c.183+7_183+8insTGG1450065928CLL