FBXO44
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
BLCA11171615411716154+Nonsense_MutationSNPGGTTCGA-ZF-A9RL-01A-11D-A38G-08TCGA-ZF-A9RL-10A-01D-A38J-08g.chr1:11716154G>Tc.262G>Tc.(262-264)Gaa>Taap.E88*
BLCA11171864711718647+SilentSNPGGATCGA-FD-A43X-01A-11D-A23U-08TCGA-FD-A43X-10A-01D-A23U-08g.chr1:11718647G>Ac.450G>Ac.(448-450)ctG>ctAp.L150L
BLCA11172128111721282+Frame_Shift_InsINS--CTCGA-DK-A1AG-01A-11D-A13W-08TCGA-DK-A1AG-10A-01D-A13W-08g.chr1:11721281_11721282insCc.719_720insCc.(718-723)ggcccgfsp.GP240fs
BRCA11171833211718332+Nonsense_MutationSNPGGTTCGA-BH-A0BL-01A-11D-A10Y-09TCGA-BH-A0BL-11A-12D-A10Y-09g.chr1:11718332G>Tc.274G>Tc.(274-276)Gag>Tagp.E92*
BRCA11171839511718396+Frame_Shift_InsINS--TTCGA-A8-A0A1-01A-11W-A019-09TCGA-A8-A0A1-10A-01W-A021-09g.chr1:11718395_11718396insTc.337_338insTc.(337-339)cagfsp.Q113fs
BRCA11171865111718651+Missense_MutationSNPGGATCGA-BH-A1EW-01A-11D-A135-09TCGA-BH-A1EW-11B-33D-A135-09g.chr1:11718651G>Ac.454G>Ac.(454-456)Gat>Aatp.D152N
COAD11171592111715921+Missense_MutationSNPCCATCGA-D5-6927-01A-21D-1924-10TCGA-D5-6927-10A-01D-1924-10g.chr1:11715921C>Ac.29C>Ac.(28-30)cCc>cAcp.P10H
COAD11171603711716037+Missense_MutationSNPCCTTCGA-AA-3811-01A-01W-0995-10TCGA-AA-3811-10A-01W-0995-10g.chr1:11716037C>Tc.145C>Tc.(145-147)Cgc>Tgcp.R49C
COADREAD11171592111715921+Missense_MutationSNPCCATCGA-D5-6927-01A-21D-1924-10TCGA-D5-6927-10A-01D-1924-10g.chr1:11715921C>Ac.29C>Ac.(28-30)cCc>cAcp.P10H
COADREAD11171603711716037+Missense_MutationSNPCCTTCGA-AA-3811-01A-01W-0995-10TCGA-AA-3811-10A-01W-0995-10g.chr1:11716037C>Tc.145C>Tc.(145-147)Cgc>Tgcp.R49C
COADREAD11171886211718862+SilentSNPGGATCGA-DY-A1DG-01A-11D-A152-10TCGA-DY-A1DG-10A-01D-A152-10g.chr1:11718862G>Ac.558G>Ac.(556-558)gcG>gcAp.A186A
DLBC11171885911718859+SilentSNPCCTTCGA-G8-6325-01A-11D-2210-10TCGA-G8-6325-10A-01D-2210-10g.chr1:11718859C>Tc.555C>Tc.(553-555)caC>caTp.H185H
DLBC11172132111721321+SilentSNPGGATCGA-G8-6324-01A-11D-2210-10TCGA-G8-6324-10A-01D-2210-10g.chr1:11721321G>Ac.759G>Ac.(757-759)ccG>ccAp.P253P
GBM11171601111716011+Missense_MutationSNPTTCTCGA-06-0939-01A-01D-1353-08TCGA-06-0939-10A-01D-1353-08g.chr1:11716011T>Cc.119T>Cc.(118-120)cTc>cCcp.L40P
GBMLGG11171598411715984+Missense_MutationSNPGGATCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr1:11715984G>Ac.92G>Ac.(91-93)cGc>cAcp.R31H
GBMLGG11171601111716011+Missense_MutationSNPTTCTCGA-06-0939-01A-01D-1353-08TCGA-06-0939-10A-01D-1353-08g.chr1:11716011T>Cc.119T>Cc.(118-120)cTc>cCcp.L40P
GBMLGG11171891011718910+SilentSNPCCTTCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr1:11718910C>Tc.606C>Tc.(604-606)agC>agTp.S202S
HNSC11171604911716049+Nonsense_MutationSNPCCTTCGA-CV-A463-01A-11D-A25Y-08TCGA-CV-A463-10A-01D-A25Y-08g.chr1:11716049C>Tc.157C>Tc.(157-159)Cga>Tgap.R53*
HNSC11171606911716069+SilentSNPGGATCGA-CV-7568-01A-11D-2229-08TCGA-CV-7568-10A-01D-2229-08g.chr1:11716069G>Ac.177G>Ac.(175-177)gaG>gaAp.E59E
HNSC11171843611718436+SilentSNPCCTTCGA-CR-6482-01A-11D-1870-08TCGA-CR-6482-10A-01D-1870-08g.chr1:11718436C>Tc.378C>Tc.(376-378)ttC>ttTp.F126F
HNSC11171843711718437+Missense_MutationSNPGGATCGA-F7-A624-01A-22D-A30E-08TCGA-F7-A624-10A-01D-A30H-08g.chr1:11718437G>Ac.379G>Ac.(379-381)Gtt>Attp.V127I
HNSC11171844411718444+Missense_MutationSNPCCTTCGA-CN-5374-01A-01D-1434-08TCGA-CN-5374-10A-01D-1434-08g.chr1:11718444C>Tc.386C>Tc.(385-387)tCa>tTap.S129L
HNSC11171861511718615+Missense_MutationSNPGGATCGA-CV-5434-01A-01D-1683-08TCGA-CV-5434-10A-01D-1870-08g.chr1:11718615G>Ac.418G>Ac.(418-420)Gac>Aacp.D140N
LGG11171598411715984+Missense_MutationSNPGGATCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr1:11715984G>Ac.92G>Ac.(91-93)cGc>cAcp.R31H
LGG11171891011718910+SilentSNPCCTTCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr1:11718910C>Tc.606C>Tc.(604-606)agC>agTp.S202S
LIHC11171861511718615+Missense_MutationSNPGGATCGA-RC-A6M4-01A-11D-A32G-10TCGA-RC-A6M4-10A-01D-A32G-10g.chr1:11718615G>Ac.418G>Ac.(418-420)Gac>Aacp.D140N
LIHC11172124811721248+Missense_MutationSNPGGATCGA-DD-AAW0-01A-11D-A40R-10TCGA-DD-AAW0-10A-01D-A40U-10g.chr1:11721248G>Ac.686G>Ac.(685-687)gGc>gAcp.G229D
LUAD11171611711716117+SilentSNPGGATCGA-J2-8192-01A-11D-2238-08TCGA-J2-8192-10A-01D-2238-08g.chr1:11716117G>Ac.225G>Ac.(223-225)cgG>cgAp.R75R
LUAD11171833711718337+SilentSNPCCTTCGA-49-6743-01A-11D-1855-08TCGA-49-6743-11A-01D-1855-08g.chr1:11718337C>Tc.279C>Tc.(277-279)ttC>ttTp.F93F
LUAD11171892111718921+Missense_MutationSNPGGTTCGA-78-8640-01A-11D-2393-08TCGA-78-8640-11A-01D-2393-08g.chr1:11718921G>Tc.617G>Tc.(616-618)tGg>tTgp.W206L
LUSC11172128411721284+Missense_MutationSNPCCTTCGA-51-4080-01A-01D-1458-08TCGA-51-4080-11A-01D-1458-08g.chr1:11721284C>Tc.722C>Tc.(721-723)cCg>cTgp.P241L
LUSC11172130311721303+SilentSNPCCTTCGA-33-4566-01A-01D-1441-08TCGA-33-4566-11A-01D-1441-08g.chr1:11721303C>Tc.741C>Tc.(739-741)agC>agTp.S247S
OV11171836211718362+Missense_MutationSNPGGATCGA-24-1474-01A-01W-0551-08TCGA-24-1474-10A-01W-0551-08g.chr1:11718362G>Ac.304G>Ac.(304-306)Gat>Aatp.D102N
PAAD11171608411716084+SilentSNPCCTTCGA-F2-A7TX-01A-33D-A38G-08TCGA-F2-A7TX-10B-01D-A38J-08g.chr1:11716084C>Tc.192C>Tc.(190-192)ccC>ccTp.P64P
PAAD11171860511718605+SilentSNPCCATCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr1:11718605C>Ac.408C>Ac.(406-408)tcC>tcAp.S136S
PRAD11172124611721246+SilentSNPCCTTCGA-XK-AAIW-01A-11D-A41K-08TCGA-XK-AAIW-10A-01D-A41N-08g.chr1:11721246C>Tc.684C>Tc.(682-684)ggC>ggTp.G228G
READ11171886211718862+SilentSNPGGATCGA-DY-A1DG-01A-11D-A152-10TCGA-DY-A1DG-10A-01D-A152-10g.chr1:11718862G>Ac.558G>Ac.(556-558)gcG>gcAp.A186A
SKCM11171607911716079+Nonsense_MutationSNPCCTTCGA-EE-A2GC-06A-11D-A197-08TCGA-EE-A2GC-10A-01D-A199-08g.chr1:11716079C>Tc.187C>Tc.(187-189)Cag>Tagp.Q63*
SKCM11171843611718436+SilentSNPCCTTCGA-EE-A2MS-06A-11D-A197-08TCGA-EE-A2MS-10A-01D-A199-08g.chr1:11718436C>Tc.378C>Tc.(376-378)ttC>ttTp.F126F
SKCM11171860211718602+SilentSNPGGATCGA-FS-A1ZA-06A-11D-A197-08TCGA-FS-A1ZA-10A-01D-A199-08g.chr1:11718602G>Ac.405G>Ac.(403-405)aaG>aaAp.K135K
SKCM11171879611718796+SilentSNPCCTTCGA-D3-A51G-06A-11D-A25O-08TCGA-D3-A51G-10A-01D-A25O-08g.chr1:11718796C>Tc.492C>Tc.(490-492)ttC>ttTp.F164F
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-CN11171598511715985single base substitutionCTsynonymous_variantR31R93C>T
BLCA-CN11171598511715985single base substitutionCTupstream_gene_variant
BLCA-CN11171599811715998single base substitutionCTmissense_variantL36F106C>T
BLCA-CN11171599811715998single base substitutionCTupstream_gene_variant
BLCA-US11172128111721281insertion of <=200bp-Cdownstream_gene_variant
BLCA-US11172128111721281insertion of <=200bp-Cframeshift_variantG240A?
BLCA-US11172128111721281insertion of <=200bp-Cframeshift_variantR106R?
BLCA-US11172128111721281insertion of <=200bp-Cframeshift_variantR121R?
BLCA-US11172128111721281insertion of <=200bp-Cframeshift_variantR198R?
BLCA-US11172128111721281insertion of <=200bp-Cframeshift_variantR230R?
BRCA-EU11171079711710797single base substitutionCGupstream_gene_variant
BRCA-EU11171410111714101single base substitutionGCupstream_gene_variant
BRCA-EU11171542611715428deletion of <=200bpAGC-5_prime_UTR_variant
BRCA-EU11171542611715428deletion of <=200bpAGC-intron_variant
BRCA-EU11171542611715428deletion of <=200bpAGC-upstream_gene_variant
BRCA-EU11171686611716866single base substitutionGAintron_variant
BRCA-EU11171686611716866single base substitutionGAupstream_gene_variant
BRCA-EU11171789411717894single base substitutionACintron_variant
BRCA-EU11171789411717894single base substitutionACupstream_gene_variant
BRCA-EU11171914811719148single base substitutionAGdownstream_gene_variant
BRCA-EU11171914811719148single base substitutionAGintron_variant
BRCA-EU11172193411721934single base substitutionGT3_prime_UTR_variant
BRCA-EU11172193411721934single base substitutionGTdownstream_gene_variant
BRCA-EU11172193411721934single base substitutionGTintron_variant
BRCA-EU11172197911721979single base substitutionGT3_prime_UTR_variant
BRCA-EU11172197911721979single base substitutionGTdownstream_gene_variant
BRCA-EU11172197911721979single base substitutionGTintron_variant
BRCA-EU11172705911727059single base substitutionCTdownstream_gene_variant
BRCA-FR11170992411709924single base substitutionGAupstream_gene_variant
BRCA-FR11172197911721979single base substitutionGT3_prime_UTR_variant
BRCA-FR11172197911721979single base substitutionGTdownstream_gene_variant
BRCA-FR11172197911721979single base substitutionGTintron_variant
BRCA-US11170997911709979single base substitutionCAupstream_gene_variant
BRCA-US11171833211718332single base substitutionGTstop_gainedE15*43G>T
BRCA-US11171833211718332single base substitutionGTstop_gainedE92*274G>T
BRCA-US11171833211718332single base substitutionGTupstream_gene_variant
BRCA-US11171839511718395insertion of <=200bp-Tframeshift_variantQ113S?
BRCA-US11171839511718395insertion of <=200bp-Tframeshift_variantQ36S?
BRCA-US11171839511718395insertion of <=200bp-Tupstream_gene_variant
BRCA-US11171865111718651single base substitutionGAintron_variant
BRCA-US11171865111718651single base substitutionGAmissense_variantD152N454G>A
BRCA-US11171865111718651single base substitutionGAmissense_variantG142E425G>A
BRCA-US11171865111718651single base substitutionGAmissense_variantG18E53G>A
BTCA-JP11171079111710791single base substitutionCGupstream_gene_variant
BTCA-JP11171079811710798single base substitutionTGupstream_gene_variant
BTCA-JP11171822711718227single base substitutionGAintron_variant
BTCA-JP11171822711718227single base substitutionGAupstream_gene_variant
CLLE-ES11172418511724185single base substitutionGTdownstream_gene_variant
COAD-US11170991811709918insertion of <=200bp-Tupstream_gene_variant
COAD-US11171056111710561single base substitutionTGupstream_gene_variant
COAD-US11171077911710779insertion of <=200bp-GCGupstream_gene_variant
COAD-US11171592111715921single base substitutionCAmissense_variantP10H29C>A
COAD-US11171592111715921single base substitutionCAupstream_gene_variant
COCA-CN11171055611710556single base substitutionGTupstream_gene_variant
COCA-CN11171843611718436single base substitutionCTintron_variant
COCA-CN11171843611718436single base substitutionCTsynonymous_variantF126F378C>T
COCA-CN11171843611718436single base substitutionCTupstream_gene_variant
COCA-CN11172146311721463single base substitutionTG3_prime_UTR_variant
COCA-CN11172146311721463single base substitutionTGdownstream_gene_variant
COCA-CN11172146311721463single base substitutionTGintron_variant
ESAD-UK11171128811711288single base substitutionCTupstream_gene_variant
ESAD-UK11171258211712582single base substitutionGAupstream_gene_variant
ESAD-UK11171419311714193single base substitutionCTupstream_gene_variant
ESAD-UK11171617211716172single base substitutionGAintron_variant
ESAD-UK11171617211716172single base substitutionGAupstream_gene_variant
ESAD-UK11171791011717910single base substitutionTGintron_variant
ESAD-UK11171791011717910single base substitutionTGupstream_gene_variant
ESAD-UK11171793111717931single base substitutionCTintron_variant
ESAD-UK11171793111717931single base substitutionCTupstream_gene_variant
ESAD-UK11171836211718362single base substitutionGAmissense_variantD102N304G>A
ESAD-UK11171836211718362single base substitutionGAmissense_variantD25N73G>A
ESAD-UK11171836211718362single base substitutionGAupstream_gene_variant
ESAD-UK11171885411718854single base substitutionGAmissense_variantA184T550G>A
ESAD-UK11171885411718854single base substitutionGAmissense_variantR142H425G>A
ESAD-UK11171885411718854single base substitutionGAmissense_variantR174H521G>A
ESAD-UK11171885411718854single base substitutionGAmissense_variantR50H149G>A
ESAD-UK11171885411718854single base substitutionGAmissense_variantR65H194G>A
ESAD-UK11171972411719724single base substitutionATdownstream_gene_variant
ESAD-UK11171972411719724single base substitutionATintron_variant
ESAD-UK11172570411725704single base substitutionGAdownstream_gene_variant
ESAD-UK11172725911727259single base substitutionTAdownstream_gene_variant
ESCA-CN11171077911710779insertion of <=200bp-GCGupstream_gene_variant
ESCA-CN11171839011718390single base substitutionGAmissense_variantR111Q332G>A
ESCA-CN11171839011718390single base substitutionGAmissense_variantR34Q101G>A
ESCA-CN11171839011718390single base substitutionGAupstream_gene_variant
GBM-US11171601111716011single base substitutionTCmissense_variantL40P119T>C
GBM-US11171601111716011single base substitutionTCupstream_gene_variant
KIRC-US11170990711709907single base substitutionACupstream_gene_variant
LAML-KR11172121711721217single base substitutionGAdownstream_gene_variant
LAML-KR11172121711721217single base substitutionGAmissense_variantG219S655G>A
LAML-KR11172121711721217single base substitutionGAmissense_variantR100Q299G>A
LAML-KR11172121711721217single base substitutionGAmissense_variantR177Q530G>A
LAML-KR11172121711721217single base substitutionGAmissense_variantR209Q626G>A
LAML-KR11172121711721217single base substitutionGAmissense_variantR85Q254G>A
LAML-KR11172645711726457single base substitutionGTdownstream_gene_variant
LICA-CN11170989911709899single base substitutionTAupstream_gene_variant
LICA-FR11171078811710788single base substitutionGCupstream_gene_variant
LICA-FR11171845211718452single base substitutionTAintron_variant
LICA-FR11171845211718452single base substitutionTAsplice_donor_variant
LICA-FR11171845211718452single base substitutionTAupstream_gene_variant
LICA-FR11172376311723763single base substitutionGAdownstream_gene_variant
LINC-JP11171010311710103single base substitutionCTupstream_gene_variant
LINC-JP11171079811710798single base substitutionTGupstream_gene_variant
LINC-JP11171427111714271single base substitutionCTupstream_gene_variant
LINC-JP11172626011726260single base substitutionCTdownstream_gene_variant
LIRI-JP11171076111710761single base substitutionGAupstream_gene_variant
LIRI-JP11171221011712210single base substitutionACupstream_gene_variant
LIRI-JP11171289711712897single base substitutionCTupstream_gene_variant
LIRI-JP11171854111718541single base substitutionCTintron_variant
LIRI-JP11171854111718541single base substitutionCTupstream_gene_variant
LIRI-JP11172028111720281single base substitutionGTdownstream_gene_variant
LIRI-JP11172028111720281single base substitutionGTintron_variant
LIRI-JP11172182311721823single base substitutionGA3_prime_UTR_variant
LIRI-JP11172182311721823single base substitutionGAdownstream_gene_variant
LIRI-JP11172182311721823single base substitutionGAintron_variant
LIRI-JP11172381611723816single base substitutionGTdownstream_gene_variant
LIRI-JP11172672911726729single base substitutionGAdownstream_gene_variant
LIRI-JP11172822611728226single base substitutionGTdownstream_gene_variant
LUSC-KR11170953811709538single base substitutionCAupstream_gene_variant
LUSC-KR11170976511709765single base substitutionTGupstream_gene_variant
LUSC-KR11171417611714176single base substitutionTCupstream_gene_variant
LUSC-KR11172016311720163single base substitutionGTdownstream_gene_variant
LUSC-KR11172016311720163single base substitutionGTintron_variant
LUSC-KR11172158911721589single base substitutionGC3_prime_UTR_variant
LUSC-KR11172158911721589single base substitutionGCdownstream_gene_variant
LUSC-KR11172158911721589single base substitutionGCintron_variant
LUSC-KR11172457811724578single base substitutionAGdownstream_gene_variant
LUSC-US11171068011710680single base substitutionCAupstream_gene_variant
LUSC-US11172128411721284single base substitutionCTdownstream_gene_variant
LUSC-US11172128411721284single base substitutionCTmissense_variantP241L722C>T
LUSC-US11172128411721284single base substitutionCTsynonymous_variantP107P321C>T
LUSC-US11172128411721284single base substitutionCTsynonymous_variantP122P366C>T
LUSC-US11172128411721284single base substitutionCTsynonymous_variantP199P597C>T
LUSC-US11172128411721284single base substitutionCTsynonymous_variantP231P693C>T
LUSC-US11172130311721303single base substitutionCTdownstream_gene_variant
LUSC-US11172130311721303single base substitutionCTmissense_variantH114Y340C>T
LUSC-US11172130311721303single base substitutionCTmissense_variantH129Y385C>T
LUSC-US11172130311721303single base substitutionCTmissense_variantH206Y616C>T
LUSC-US11172130311721303single base substitutionCTmissense_variantH238Y712C>T
LUSC-US11172130311721303single base substitutionCTsynonymous_variantS247S741C>T
MALY-DE11171103011711030single base substitutionACupstream_gene_variant
MALY-DE11171304311713043single base substitutionGAupstream_gene_variant
MELA-AU11170994711709947single base substitutionTCupstream_gene_variant
MELA-AU11170995511709955single base substitutionGAupstream_gene_variant
MELA-AU11171102811711028single base substitutionACupstream_gene_variant
MELA-AU11171151211711512single base substitutionCTupstream_gene_variant
MELA-AU11171153411711534single base substitutionATupstream_gene_variant
MELA-AU11171200811712008deletion of <=200bpA-upstream_gene_variant
MELA-AU11171251211712512single base substitutionGAupstream_gene_variant
MELA-AU11171319411713194single base substitutionCTupstream_gene_variant
MELA-AU11171329411713294single base substitutionCTupstream_gene_variant
MELA-AU11171378511713785single base substitutionGAupstream_gene_variant
MELA-AU11171405611714056single base substitutionCTupstream_gene_variant
MELA-AU11171564211715642single base substitutionGA5_prime_UTR_variant
MELA-AU11171564211715642single base substitutionGAintron_variant
MELA-AU11171564211715642single base substitutionGAupstream_gene_variant
MELA-AU11171665311716653single base substitutionGAintron_variant
MELA-AU11171665311716653single base substitutionGAupstream_gene_variant
MELA-AU11171768111717681single base substitutionCTintron_variant
MELA-AU11171768111717681single base substitutionCTupstream_gene_variant
MELA-AU11171787711717877single base substitutionGAintron_variant
MELA-AU11171787711717877single base substitutionGAupstream_gene_variant
MELA-AU11171793211717932single base substitutionTCintron_variant
MELA-AU11171793211717932single base substitutionTCupstream_gene_variant
MELA-AU11171794711717947single base substitutionCTintron_variant
MELA-AU11171794711717947single base substitutionCTupstream_gene_variant
MELA-AU11171877511718775single base substitutionCTintron_variant
MELA-AU11171894511718945single base substitutionGAdownstream_gene_variant
MELA-AU11171894511718945single base substitutionGAintron_variant
MELA-AU11172022611720226single base substitutionTAdownstream_gene_variant
MELA-AU11172022611720226single base substitutionTAintron_variant
MELA-AU11172134911721349single base substitutionCT3_prime_UTR_variant
MELA-AU11172134911721349single base substitutionCTdownstream_gene_variant
MELA-AU11172134911721349single base substitutionCTmissense_variantS129F386C>T
MELA-AU11172134911721349single base substitutionCTmissense_variantS144F431C>T
MELA-AU11172134911721349single base substitutionCTmissense_variantS221F662C>T
MELA-AU11172134911721349single base substitutionCTmissense_variantS253F758C>T
MELA-AU11172161311721613single base substitutionCT3_prime_UTR_variant
MELA-AU11172161311721613single base substitutionCTdownstream_gene_variant
MELA-AU11172161311721613single base substitutionCTintron_variant
MELA-AU11172190511721906multiple base substitution (>=2bp and <=200bp)CCTT3_prime_UTR_variant
MELA-AU11172190511721906multiple base substitution (>=2bp and <=200bp)CCTTdownstream_gene_variant
MELA-AU11172190511721906multiple base substitution (>=2bp and <=200bp)CCTTintron_variant
MELA-AU11172196011721960single base substitutionTG3_prime_UTR_variant
MELA-AU11172196011721960single base substitutionTGdownstream_gene_variant
MELA-AU11172196011721960single base substitutionTGintron_variant
MELA-AU11172225311722253single base substitutionCT3_prime_UTR_variant
MELA-AU11172225311722253single base substitutionCTdownstream_gene_variant
MELA-AU11172225311722253single base substitutionCTintron_variant
MELA-AU11172285011722850single base substitutionCT3_prime_UTR_variant
MELA-AU11172285011722850single base substitutionCTdownstream_gene_variant
MELA-AU11172285011722850single base substitutionCTintron_variant
MELA-AU11172425611724256single base substitutionGAdownstream_gene_variant
MELA-AU11172454611724546single base substitutionCTdownstream_gene_variant
MELA-AU11172532611725326single base substitutionGAdownstream_gene_variant
MELA-AU11172699611726996single base substitutionGAdownstream_gene_variant
MELA-AU11172804411728044single base substitutionGAdownstream_gene_variant
OV-AU11171070511710705single base substitutionGAupstream_gene_variant
OV-AU11171114411711144single base substitutionCGupstream_gene_variant
OV-AU11171336211713362single base substitutionCTupstream_gene_variant
OV-AU11171846011718460single base substitutionGAintron_variant
OV-AU11171846011718460single base substitutionGAupstream_gene_variant
OV-AU11171915411719154single base substitutionCGdownstream_gene_variant
OV-AU11171915411719154single base substitutionCGintron_variant
OV-AU11172720711727207single base substitutionTGdownstream_gene_variant
PACA-AU11171806811718068single base substitutionACintron_variant
PACA-AU11171806811718068single base substitutionACupstream_gene_variant
PACA-AU11171819411718194single base substitutionCTintron_variant
PACA-AU11171819411718194single base substitutionCTupstream_gene_variant
PACA-AU11172093311720933single base substitutionCTdownstream_gene_variant
PACA-AU11172093311720933single base substitutionCTintron_variant
PACA-AU11172182311721823single base substitutionGA3_prime_UTR_variant
PACA-AU11172182311721823single base substitutionGAdownstream_gene_variant
PACA-AU11172182311721823single base substitutionGAintron_variant
PACA-AU11172281211722812single base substitutionGT3_prime_UTR_variant
PACA-AU11172281211722812single base substitutionGTdownstream_gene_variant
PACA-AU11172281211722812single base substitutionGTintron_variant
PACA-AU11172587711725877single base substitutionACdownstream_gene_variant
PACA-AU11172609811726098single base substitutionTCdownstream_gene_variant
PACA-CA11171077911710779insertion of <=200bp-GCGupstream_gene_variant
PACA-CA11171295011712950single base substitutionATupstream_gene_variant
PACA-CA11171371211713712single base substitutionGAupstream_gene_variant
PACA-CA11171526411715264single base substitutionGTintron_variant
PACA-CA11171526411715264single base substitutionGTupstream_gene_variant
PACA-CA11171530511715305single base substitutionCGintron_variant
PACA-CA11171530511715305single base substitutionCGupstream_gene_variant
PACA-CA11171610011716100single base substitutionAGmissense_variantI70V208A>G
PACA-CA11171610011716100single base substitutionAGupstream_gene_variant
PACA-CA11171785911717859insertion of <=200bp-Aintron_variant
PACA-CA11171785911717859insertion of <=200bp-Aupstream_gene_variant
PACA-CA11171807411718074single base substitutionCAintron_variant
PACA-CA11171807411718074single base substitutionCAupstream_gene_variant
PACA-CA11172386211723874deletion of <=200bpGCCACCACGCCCG-downstream_gene_variant
PACA-CA11172732811727328single base substitutionGTdownstream_gene_variant
PACA-CA11172787711727877single base substitutionCTdownstream_gene_variant
PACA-CA11172795011727950single base substitutionCTdownstream_gene_variant
PAEN-AU11172671811726718single base substitutionCAdownstream_gene_variant
PAEN-IT11172407811724078single base substitutionCTdownstream_gene_variant
PBCA-DE11170961711709617single base substitutionGCupstream_gene_variant
PBCA-DE11171926211719262single base substitutionGCdownstream_gene_variant
PBCA-DE11171926211719262single base substitutionGCintron_variant
PRAD-CA11172394511723945single base substitutionCAdownstream_gene_variant
PRAD-UK11171227411712274single base substitutionAGupstream_gene_variant
PRAD-UK11171337011713379deletion of <=200bpCACAACTCCC-upstream_gene_variant
READ-US11171843611718436single base substitutionCTintron_variant
READ-US11171843611718436single base substitutionCTsynonymous_variantF126F378C>T
READ-US11171843611718436single base substitutionCTupstream_gene_variant
READ-US11171886211718862single base substitutionGAmissense_variantA145T433G>A
READ-US11171886211718862single base substitutionGAmissense_variantA177T529G>A
READ-US11171886211718862single base substitutionGAmissense_variantA53T157G>A
READ-US11171886211718862single base substitutionGAmissense_variantA68T202G>A
READ-US11171886211718862single base substitutionGAsynonymous_variantA186A558G>A
RECA-EU11171195611711956single base substitutionAGupstream_gene_variant
RECA-EU11172046411720464single base substitutionGAdownstream_gene_variant
RECA-EU11172046411720464single base substitutionGAintron_variant
SKCA-BR11171360511713605single base substitutionTGupstream_gene_variant
SKCA-BR11171488311714883insertion of <=200bp-GGCGGGGCintron_variant
SKCA-BR11171488311714883insertion of <=200bp-GGCGGGGCupstream_gene_variant
SKCA-BR11171531111715311single base substitutionTGintron_variant
SKCA-BR11171531111715311single base substitutionTGupstream_gene_variant
SKCA-BR11171532911715329single base substitutionTGintron_variant
SKCA-BR11171532911715329single base substitutionTGupstream_gene_variant
SKCA-BR11171533411715334single base substitutionAGintron_variant
SKCA-BR11171533411715334single base substitutionAGupstream_gene_variant
SKCA-BR11171593711715937single base substitutionGAsynonymous_variantL15L45G>A
SKCA-BR11171593711715937single base substitutionGAupstream_gene_variant
SKCA-BR11171652111716522deletion of <=200bpAT-intron_variant
SKCA-BR11171652111716522deletion of <=200bpAT-upstream_gene_variant
SKCA-BR11171873711718737single base substitutionACintron_variant
SKCA-BR11172300711723011deletion of <=200bpTTTTC-3_prime_UTR_variant
SKCA-BR11172300711723011deletion of <=200bpTTTTC-downstream_gene_variant
SKCA-BR11172300711723011deletion of <=200bpTTTTC-intron_variant
SKCA-BR11172395511723955single base substitutionCTdownstream_gene_variant
SKCA-BR11172438111724381single base substitutionTGdownstream_gene_variant
SKCA-BR11172561111725611insertion of <=200bp-CTdownstream_gene_variant
SKCA-BR11172733311727333single base substitutionCTdownstream_gene_variant
SKCA-BR11172816611728166single base substitutionGAdownstream_gene_variant
SKCM-US11171006811710068single base substitutionGAupstream_gene_variant
SKCM-US11171607911716079single base substitutionCTstop_gainedQ63*187C>T
SKCM-US11171607911716079single base substitutionCTupstream_gene_variant
SKCM-US11171860211718602single base substitutionGAintron_variant
SKCM-US11171860211718602single base substitutionGAmissense_variantV126I376G>A
SKCM-US11171860211718602single base substitutionGAmissense_variantV2I4G>A
SKCM-US11171860211718602single base substitutionGAsynonymous_variantK135K405G>A
SKCM-US11171879611718796single base substitutionCTmissense_variantR123C367C>T
SKCM-US11171879611718796single base substitutionCTmissense_variantR155C463C>T
SKCM-US11171879611718796single base substitutionCTmissense_variantR31C91C>T
SKCM-US11171879611718796single base substitutionCTmissense_variantR46C136C>T
SKCM-US11171879611718796single base substitutionCTsynonymous_variantF164F492C>T
STAD-US11171595811715958single base substitutionCTsynonymous_variantP22P66C>T
STAD-US11171595811715958single base substitutionCTupstream_gene_variant
STAD-US11171600511716005single base substitutionGAmissense_variantR38Q113G>A
STAD-US11171600511716005single base substitutionGAupstream_gene_variant
STAD-US11171601211716012single base substitutionCAsynonymous_variantL40L120C>A
STAD-US11171601211716012single base substitutionCAupstream_gene_variant
STAD-US11171601311716013single base substitutionAGmissense_variantI41V121A>G
STAD-US11171601311716013single base substitutionAGupstream_gene_variant
STAD-US11171860211718602single base substitutionGAintron_variant
STAD-US11171860211718602single base substitutionGAmissense_variantV126I376G>A
STAD-US11171860211718602single base substitutionGAmissense_variantV2I4G>A
STAD-US11171860211718602single base substitutionGAsynonymous_variantK135K405G>A
STAD-US11172123411721234single base substitutionGAdownstream_gene_variant
STAD-US11172123411721234single base substitutionGAmissense_variantV106I316G>A
STAD-US11172123411721234single base substitutionGAmissense_variantV183I547G>A
STAD-US11172123411721234single base substitutionGAmissense_variantV215I643G>A
STAD-US11172123411721234single base substitutionGAmissense_variantV91I271G>A
STAD-US11172123411721234single base substitutionGAstop_gainedW224*672G>A
THCA-SA11171077911710779insertion of <=200bp-GCGupstream_gene_variant
THCA-SA11172185411721854single base substitutionCT3_prime_UTR_variant
THCA-SA11172185411721854single base substitutionCTdownstream_gene_variant
THCA-SA11172185411721854single base substitutionCTintron_variant
THCA-SA11172268811722688single base substitutionGA3_prime_UTR_variant
THCA-SA11172268811722688single base substitutionGAdownstream_gene_variant
THCA-US11171889211718892single base substitutionGAmissense_variantD155N463G>A
THCA-US11171889211718892single base substitutionGAmissense_variantD187N559G>A
THCA-US11171889211718892single base substitutionGAmissense_variantD63N187G>A
THCA-US11171889211718892single base substitutionGAmissense_variantD78N232G>A
THCA-US11171889211718892single base substitutionGAsynonymous_variantA196A588G>A
UCEC-US11171061711710617single base substitutionGAupstream_gene_variant
UCEC-US11171594611715946single base substitutionCAmissense_variantF18L54C>A
UCEC-US11171594611715946single base substitutionCAupstream_gene_variant
UCEC-US11171843611718436single base substitutionCTintron_variant
UCEC-US11171843611718436single base substitutionCTsynonymous_variantF126F378C>T
UCEC-US11171843611718436single base substitutionCTupstream_gene_variant
UCEC-US11171881411718814single base substitutionCTmissense_variantR129W385C>T
UCEC-US11171881411718814single base substitutionCTmissense_variantR161W481C>T
UCEC-US11171881411718814single base substitutionCTmissense_variantR37W109C>T
UCEC-US11171881411718814single base substitutionCTmissense_variantR52W154C>T
UCEC-US11171881411718814single base substitutionCTsynonymous_variantC170C510C>T
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
2521249COSM5843188c.386C>Tp.S129LSubstitution - Missense1:11658387-11658387+
587278COSM1206857c.550G>Ap.A184TSubstitution - Missense1:11658797-11658797+
2492713COSM5606544c.129C>Tp.L43LSubstitution - coding silent1:11655964-11655964+
Capan-1COSM328036c.332G>Ap.R111QSubstitution - Missense1:11658333-11658333+
Sample_1COSM2178553c.556G>Ap.A186TSubstitution - Missense1:11658803-11658803+
TCGA-BR-8380-01COSM4021069c.66C>Tp.P22PSubstitution - coding silent1:11655901-11655901+
SJBALL021047_D1COSM4993968c.488+1G>Ap.?Unknown1:11658629-11658629+
TCGA-EE-A2GC-06COSM3471906c.187C>Tp.Q63*Substitution - Nonsense1:11656022-11656022+
TCGA-DY-A1DG-01COSM1560071c.558G>Ap.A186ASubstitution - coding silent1:11658805-11658805+
U031COSM1683053c.403A>Tp.K135*Substitution - Nonsense1:11658543-11658543+
C10COSM4616418c.274G>Ap.E92KSubstitution - Missense1:11658275-11658275+
2492711COSM5606544c.129C>Tp.L43LSubstitution - coding silent1:11655964-11655964+
TCGA-24-1474-01COSM70760c.304G>Ap.D102NSubstitution - Missense1:11658305-11658305+
587234COSM1206858c.684C>Tp.G228GSubstitution - coding silent1:11661189-11661189+
H1703COSM1196637c.552G>Cp.A184ASubstitution - coding silent1:11658799-11658799+
TCGA-D3-A51G-06COSM3471908c.492C>Tp.F164FSubstitution - coding silent1:11658739-11658739+
B80-5-TumorCOSM1747660c.93C>Tp.R31RSubstitution - coding silent1:11655928-11655928+
TCGA-BS-A0UF-01COSM894439c.378C>Tp.F126FSubstitution - coding silent1:11658379-11658379+
Pat_01_ACOSM5843188c.386C>Tp.S129LSubstitution - Missense1:11658387-11658387+
CSCC-27-TCOSM4515158c.99C>Tp.V33VSubstitution - coding silent1:11655934-11655934+
EGC3COSM5052434c.285C>Tp.S95SSubstitution - coding silent1:11658286-11658286+
AOCS-159-1-9COSM4004727c.392+10G>Ap.?Unknown1:11658403-11658403+
sysucc-311TCOSM894439c.378C>Tp.F126FSubstitution - coding silent1:11658379-11658379+
CN-AML-CR-27-DxCOSM5424484c.655G>Ap.G219SSubstitution - Missense1:11661160-11661160+
PM-7COSM5619601c.254C>Tp.P85LSubstitution - Missense1:11656089-11656089+
TCGA-AP-A059-01COSM894440c.510C>Tp.C170CSubstitution - coding silent1:11658757-11658757+
TCGA-HU-8610-01COSM4021071c.120C>Ap.L40LSubstitution - coding silent1:11655955-11655955+
TCGA-FY-A3W9-01COSM3369223c.588G>Ap.A196ASubstitution - coding silent1:11658835-11658835+
B80-5COSM1747660c.93C>Tp.R31RSubstitution - coding silent1:11655928-11655928+
Au8COSM5606544c.129C>Tp.L43LSubstitution - coding silent1:11655964-11655964+
LUAD_E00623COSM354039c.84G>Tp.L28LSubstitution - coding silent1:11655919-11655919+
ZZUFHECRKL-G023TCOSM328036c.332G>Ap.R111QSubstitution - Missense1:11658333-11658333+
TCGA-B5-A0JY-01COSM894438c.54C>Ap.F18LSubstitution - Missense1:11655889-11655889+
RMS110_COSM4987136c.91C>Tp.R31CSubstitution - Missense1:11655926-11655926+
2492712COSM5606544c.129C>Tp.L43LSubstitution - coding silent1:11655964-11655964+
TCGA-BR-8081-01COSM3471907c.405G>Ap.K135KSubstitution - coding silent1:11658545-11658545+
TCGA-BH-A0BL-01COSM423555c.274G>Tp.E92*Substitution - Nonsense1:11658275-11658275+
TCGA-33-4566-01COSM675130c.741C>Tp.S247SSubstitution - coding silent1:11661246-11661246+
TCGA-D5-6927-01COSM1333006c.29C>Ap.P10HSubstitution - Missense1:11655864-11655864+
TCGA-FP-A4BE-01COSM4021072c.121A>Gp.I41VSubstitution - Missense1:11655956-11655956+
CHC2215TCOSM4790277c.392+2T>Ap.?Unknown1:11658395-11658395+
TCGA-51-4080-01COSM675131c.722C>Tp.P241LSubstitution - Missense1:11661227-11661227+
TCGA-F5-6814-01COSM894439c.378C>Tp.F126FSubstitution - coding silent1:11658379-11658379+
TCGA-BH-A1EW-01COSM423556c.454G>Ap.D152NSubstitution - Missense1:11658594-11658594+
T9COSM5618593c.759G>Ap.P253PSubstitution - coding silent1:11661264-11661264+
WSU-HN30COSM4600791c.662G>Cp.R221PSubstitution - Missense1:11661167-11661167+
2492714COSM5606544c.129C>Tp.L43LSubstitution - coding silent1:11655964-11655964+
2973_TCOSM3975931c.265+6G>Cp.?Unknown1:11656106-11656106+
B83-TumorCOSM1747661c.106C>Tp.L36FSubstitution - Missense1:11655941-11655941+
TCGA-06-0939-01COSM3399580c.119T>Cp.L40PSubstitution - Missense1:11655954-11655954+
CHC2215TCOSM4790277c.392+2T>Ap.?Unknown1:11658395-11658395+
TCGA-A8-A0A1-01COSM5832237c.337_338insTp.Q113fs*8Insertion - Frameshift1:11658338-11658339+
TCGA-BR-4257-01COSM4021070c.113G>Ap.R38QSubstitution - Missense1:11655948-11655948+
PR-00-1165COSM244476c.464G>Ap.R155QSubstitution - Missense1:11658604-11658604+
PT35COSM5911323c.490T>Cp.F164LSubstitution - Missense1:11658737-11658737+
B83COSM1747661c.106C>Tp.L36FSubstitution - Missense1:11655941-11655941+
TCGA-D7-A4YT-01COSM4021073c.672G>Ap.W224*Substitution - Nonsense1:11661177-11661177+
PCSI_0311_Pa_P_526COSM3849217c.208A>Gp.I70VSubstitution - Missense1:11656043-11656043+
HT115COSM2178552c.545C>Tp.S182LSubstitution - Missense1:11658792-11658792+
TCGA-FS-A1ZA-06COSM3471907c.405G>Ap.K135KSubstitution - coding silent1:11658545-11658545+
SW480COSM2178547c.429C>Tp.A143ASubstitution - coding silent1:11658569-11658569+
NOKSICOSM4596058c.31G>Ap.E11KSubstitution - Missense1:11655866-11655866+
Pat_01_BCOSM5843188c.386C>Tp.S129LSubstitution - Missense1:11658387-11658387+
YUPAERCOSM5377331c.409C>Tp.Q137*Substitution - Nonsense1:11658549-11658549+
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.555999;Hs.5560061p36.22609111
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
-CFrameshiftp.R242Efs*26c.722dupC111721282BLCA
CTMissensep.P241Lc.722C>T111721284LUSC
CTMissensep.S129Lc.386C>T111718444HNSC
CTNonsensep.Q226*c.676C>T111721238CM
CTNonsensep.Q63*c.187C>T111716079CM
CTSynonymousp.F126Fc.378C>T111718436CM
CTSynonymousp.F126Fc.378C>T111718436HNSC
CTSynonymousp.F93Fc.279C>T111718337LUAD
GAMissensep.D102Nc.304G>A111718362OV
GAMissensep.D140Nc.418G>A111718615HNSC
GAMissensep.D152Nc.454G>A111718651BRCA
GAMissensep.R38Qc.113G>A111716005STAD
GASynonymousp.A196Ac.588G>A111718892THCA
GASynonymousp.K135Kc.405G>A111718602CM
GASynonymousp.P241Pc.723G>A111721285CM
GTNonsensep.E92*c.274G>T111718332BRCA
TCMissensep.L40Pc.119T>C111716011GBM