BTBD2
Mutation - TCGA
TypeChromosomeStart PositionEnd PositionStrandVariant ClassificationVariant TypeReference AlleleTumor_seq Allele 1Tumor_seq Allele 2Tumor Sample BarcodeMatched Norm Sample BarcodeGenome ChangecDNA ChangeCodon ChangeProtein Change
ACC1919931631993163+SilentSNPCCTTCGA-OR-A5JF-01A-11D-A29I-10TCGA-OR-A5JF-10A-01D-A29L-10g.chr19:1993163C>Tc.540G>Ac.(538-540)tcG>tcAp.S180S
BLCA1919864901986490+SilentSNPGGCTCGA-HQ-A5NE-01A-12D-A289-08TCGA-HQ-A5NE-10A-01D-A289-08g.chr19:1986490G>Cc.1575C>Gc.(1573-1575)acC>acGp.T525T
BLCA1919865871986587+Missense_MutationSNPGGATCGA-DK-AA71-01A-31D-A391-08TCGA-DK-AA71-10A-01D-A394-08g.chr19:1986587G>Ac.1478C>Tc.(1477-1479)aCg>aTgp.T493M
BLCA1919869691986969+Missense_MutationSNPGGCTCGA-DK-A6B2-01A-11D-A30E-08TCGA-DK-A6B2-10A-01D-A30H-08g.chr19:1986969G>Cc.1276C>Gc.(1276-1278)Cac>Gacp.H426D
BLCA1919901041990104+Missense_MutationSNPCCATCGA-4Z-AA7O-01A-31D-A391-08TCGA-4Z-AA7O-10A-01D-A394-08g.chr19:1990104C>Ac.887G>Tc.(886-888)cGg>cTgp.R296L
BLCA1919931511993151+Missense_MutationSNPCCGTCGA-DK-A3IU-01A-11D-A20D-08TCGA-DK-A3IU-10A-01D-A20D-08g.chr19:1993151C>Gc.552G>Cc.(550-552)caG>caCp.Q184H
BLCA1920153702015370+Missense_MutationSNPGGTTCGA-DK-A3IT-01A-31D-A20D-08TCGA-DK-A3IT-10A-01D-A20D-08g.chr19:2015370G>Tc.333C>Ac.(331-333)ttC>ttAp.F111L
BLCA1920154322015432+Nonsense_MutationSNPCCATCGA-GD-A6C6-01A-21D-A31L-08TCGA-GD-A6C6-10A-01D-A31J-08g.chr19:2015432C>Ac.271G>Tc.(271-273)Gag>Tagp.E91*
COAD1919875531987553+Missense_MutationSNPCCTTCGA-A6-6781-01A-22D-1924-10TCGA-A6-6781-10A-01D-1924-10g.chr19:1987553C>Tc.1127G>Ac.(1126-1128)cGc>cAcp.R376H
COAD1919875531987553+Missense_MutationSNPCCTTCGA-G4-6317-01A-11D-1719-10TCGA-G4-6317-10A-01D-1720-10g.chr19:1987553C>Tc.1127G>Ac.(1126-1128)cGc>cAcp.R376H
COAD1919876361987636+Missense_MutationSNPGGTTCGA-G4-6628-01A-11D-1835-10TCGA-G4-6628-10A-01D-1835-10g.chr19:1987636G>Tc.1044C>Ac.(1042-1044)caC>caAp.H348Q
COAD1919900311990031+SilentSNPCCTTCGA-AA-3947-01A-01W-0995-10TCGA-AA-3947-10A-01W-0995-10g.chr19:1990031C>Tc.960G>Ac.(958-960)ccG>ccAp.P320P
COAD1919907411990741+SilentSNPCCTTCGA-CM-5861-01A-01D-1650-10TCGA-CM-5861-10A-01D-1650-10g.chr19:1990741C>Tc.765G>Ac.(763-765)gcG>gcAp.A255A
COAD1919974581997458+Missense_MutationSNPCCTTCGA-DM-A1HB-01A-21D-A183-10TCGA-DM-A1HB-10A-01D-A183-10g.chr19:1997458C>Tc.412G>Ac.(412-414)Gtg>Atgp.V138M
COADREAD1919875531987553+Missense_MutationSNPCCTTCGA-A6-6781-01A-22D-1924-10TCGA-A6-6781-10A-01D-1924-10g.chr19:1987553C>Tc.1127G>Ac.(1126-1128)cGc>cAcp.R376H
COADREAD1919875531987553+Missense_MutationSNPCCTTCGA-G4-6317-01A-11D-1719-10TCGA-G4-6317-10A-01D-1720-10g.chr19:1987553C>Tc.1127G>Ac.(1126-1128)cGc>cAcp.R376H
COADREAD1919876361987636+Missense_MutationSNPGGTTCGA-G4-6628-01A-11D-1835-10TCGA-G4-6628-10A-01D-1835-10g.chr19:1987636G>Tc.1044C>Ac.(1042-1044)caC>caAp.H348Q
COADREAD1919900311990031+SilentSNPCCTTCGA-AA-3947-01A-01W-0995-10TCGA-AA-3947-10A-01W-0995-10g.chr19:1990031C>Tc.960G>Ac.(958-960)ccG>ccAp.P320P
COADREAD1919907411990741+SilentSNPCCTTCGA-CM-5861-01A-01D-1650-10TCGA-CM-5861-10A-01D-1650-10g.chr19:1990741C>Tc.765G>Ac.(763-765)gcG>gcAp.A255A
COADREAD1919974581997458+Missense_MutationSNPCCTTCGA-DM-A1HB-01A-21D-A183-10TCGA-DM-A1HB-10A-01D-A183-10g.chr19:1997458C>Tc.412G>Ac.(412-414)Gtg>Atgp.V138M
ESCA1919901351990135+Missense_MutationSNPCCTTCGA-L5-A8NE-01A-11D-A37C-09TCGA-L5-A8NE-11A-11D-A37F-09g.chr19:1990135C>Tc.856G>Ac.(856-858)Gtt>Attp.V286I
GBMLGG1919875391987539+Missense_MutationSNPCCTTCGA-DU-A5TY-01A-11D-A289-08TCGA-DU-A5TY-10A-01D-A289-08g.chr19:1987539C>Tc.1141G>Ac.(1141-1143)Gag>Aagp.E381K
GBMLGG1919876241987624+Missense_MutationSNPGGTTCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr19:1987624G>Tc.1056C>Ac.(1054-1056)aaC>aaAp.N352K
HNSC1919868641986864+Missense_MutationSNPGGATCGA-F7-A624-01A-22D-A30E-08TCGA-F7-A624-10A-01D-A30H-08g.chr19:1986864G>Ac.1381C>Tc.(1381-1383)Ccc>Tccp.P461S
HNSC1919872211987221+Missense_MutationSNPCCTTCGA-D6-6516-01A-11D-1870-08TCGA-D6-6516-10A-01D-1870-08g.chr19:1987221C>Tc.1213G>Ac.(1213-1215)Gga>Agap.G405R
HNSC1919900341990034+SilentSNPGGATCGA-TN-A7HL-01A-11D-A34J-08TCGA-TN-A7HL-10A-01D-A34M-08g.chr19:1990034G>Ac.957C>Tc.(955-957)ttC>ttTp.F319F
HNSC1919931061993106+SilentSNPCCTTCGA-CV-7432-01A-11D-2129-08TCGA-CV-7432-10A-01D-2129-08g.chr19:1993106C>Tc.597G>Ac.(595-597)aaG>aaAp.K199K
HNSC1919931661993166+Nonsense_MutationSNPGGCTCGA-CN-6994-01A-11D-1912-08TCGA-CN-6994-10A-01D-1912-08g.chr19:1993166G>Cc.537C>Gc.(535-537)taC>taGp.Y179*
KIPAN1919865021986502+SilentSNPGGATCGA-CZ-4854-01A-01D-1373-10TCGA-CZ-4854-11A-01D-1373-10g.chr19:1986502G>Ac.1563C>Tc.(1561-1563)gtC>gtTp.V521V
KIPAN1919868771986877+SilentSNPCCGTCGA-BQ-5877-01A-11D-1589-08TCGA-BQ-5877-11A-01D-1589-08g.chr19:1986877C>Gc.1368G>Cc.(1366-1368)ccG>ccCp.P456P
KIPAN1919931331993133+SilentSNPCCTTCGA-BP-4967-01A-01D-1462-08TCGA-BP-4967-11A-01D-1462-08g.chr19:1993133C>Tc.570G>Ac.(568-570)gtG>gtAp.V190V
KIRC1919865021986502+SilentSNPGGATCGA-CZ-4854-01A-01D-1373-10TCGA-CZ-4854-11A-01D-1373-10g.chr19:1986502G>Ac.1563C>Tc.(1561-1563)gtC>gtTp.V521V
KIRC1919931331993133+SilentSNPCCTTCGA-BP-4967-01A-01D-1462-08TCGA-BP-4967-11A-01D-1462-08g.chr19:1993133C>Tc.570G>Ac.(568-570)gtG>gtAp.V190V
KIRP1919868771986877+SilentSNPCCGTCGA-BQ-5877-01A-11D-1589-08TCGA-BQ-5877-11A-01D-1589-08g.chr19:1986877C>Gc.1368G>Cc.(1366-1368)ccG>ccCp.P456P
LGG1919875391987539+Missense_MutationSNPCCTTCGA-DU-A5TY-01A-11D-A289-08TCGA-DU-A5TY-10A-01D-A289-08g.chr19:1987539C>Tc.1141G>Ac.(1141-1143)Gag>Aagp.E381K
LGG1919876241987624+Missense_MutationSNPGGTTCGA-DU-6392-01A-11D-1705-08TCGA-DU-6392-10A-01D-1705-08g.chr19:1987624G>Tc.1056C>Ac.(1054-1056)aaC>aaAp.N352K
LUAD1919866421986642+Missense_MutationSNPCCTTCGA-50-6592-01A-11D-1753-08TCGA-50-6592-11A-01D-1753-08g.chr19:1986642C>Tc.1423G>Ac.(1423-1425)Gac>Aacp.D475N
LUAD1919872001987200+Missense_MutationSNPTTGTCGA-95-7567-01A-11D-2063-08TCGA-95-7567-10A-01D-2063-08g.chr19:1987200T>Gc.1234A>Cc.(1234-1236)Atc>Ctcp.I412L
OV1919974161997416+Missense_MutationSNPCCTTCGA-13-1506-01A-01W-0549-09TCGA-13-1506-10A-01W-0550-09g.chr19:1997416C>Tc.454G>Ac.(454-456)Ggg>Aggp.G152R
PAAD1919868571986857+Missense_MutationSNPAAGTCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr19:1986857A>Gc.1388T>Cc.(1387-1389)gTc>gCcp.V463A
PAAD1919900711990071+Missense_MutationSNPCCTTCGA-IB-7651-01A-11D-2154-08TCGA-IB-7651-10A-01D-2154-08g.chr19:1990071C>Tc.920G>Ac.(919-921)cGg>cAgp.R307Q
PRAD1919869281986928+SilentSNPGGATCGA-EJ-A46F-01A-31D-A257-08TCGA-EJ-A46F-10A-01D-A25A-08g.chr19:1986928G>Ac.1317C>Tc.(1315-1317)ggC>ggTp.G439G
PRAD1919875891987589+Missense_MutationSNPCCTTCGA-XK-AAIW-01A-11D-A41K-08TCGA-XK-AAIW-10A-01D-A41N-08g.chr19:1987589C>Tc.1091G>Ac.(1090-1092)cGc>cAcp.R364H
PRAD1919900061990006+Missense_MutationSNPCCTTCGA-XK-AAIW-01A-11D-A41K-08TCGA-XK-AAIW-10A-01D-A41N-08g.chr19:1990006C>Tc.985G>Ac.(985-987)Gca>Acap.A329T
SKCM1919868991986899+Missense_MutationSNPAACTCGA-D3-A3MV-06A-11D-A21A-08TCGA-D3-A3MV-10A-01D-A21A-08g.chr19:1986899A>Cc.1346T>Gc.(1345-1347)tTc>tGcp.F449C
SKCM1919973931997393+SilentSNPCCTTCGA-D9-A149-06A-11D-A196-08TCGA-D9-A149-10A-01D-A198-08g.chr19:1997393C>Tc.477G>Ac.(475-477)acG>acAp.T159T
Mutation - ICGC
Project CodeChromosomeChromosome StartChromosome EndMutation TypeMutated from AlleleMutated to AlleleConsequence TypeAA MutationCDS Mutation
BLCA-US1919931511993151single base substitutionCG3_prime_UTR_variant
BLCA-US1919931511993151single base substitutionCGdownstream_gene_variant
BLCA-US1919931511993151single base substitutionCGexon_variant
BLCA-US1919931511993151single base substitutionCGmissense_variantQ184H552G>C
BLCA-US1919931511993151single base substitutionCGmissense_variantQ35H105G>C
BLCA-US1919931511993151single base substitutionCGupstream_gene_variant
BOCA-FR1919862871986287single base substitutionGA3_prime_UTR_variant
BOCA-FR1919862871986287single base substitutionGAdownstream_gene_variant
BOCA-FR1919862871986287single base substitutionGAexon_variant
BRCA-EU1919808581980858single base substitutionCTdownstream_gene_variant
BRCA-EU1919810051981005single base substitutionGTdownstream_gene_variant
BRCA-EU1919821601982160single base substitutionGAdownstream_gene_variant
BRCA-EU1919851431985143single base substitutionATdownstream_gene_variant
BRCA-EU1919858081985808single base substitutionTC3_prime_UTR_variant
BRCA-EU1919858081985808single base substitutionTCdownstream_gene_variant
BRCA-EU1919858081985808single base substitutionTCexon_variant
BRCA-EU1919866761986676single base substitutionCGdownstream_gene_variant
BRCA-EU1919866761986676single base substitutionCGintron_variant
BRCA-EU1919868961986896single base substitutionCTdownstream_gene_variant
BRCA-EU1919868961986896single base substitutionCTexon_variant
BRCA-EU1919868961986896single base substitutionCTmissense_variantR450H1349G>A
BRCA-EU1919881771988177single base substitutionCTdownstream_gene_variant
BRCA-EU1919881771988177single base substitutionCTexon_variant
BRCA-EU1919881771988177single base substitutionCTintron_variant
BRCA-EU1919884621988462single base substitutionGAdownstream_gene_variant
BRCA-EU1919884621988462single base substitutionGAexon_variant
BRCA-EU1919884621988462single base substitutionGAintron_variant
BRCA-EU1919885221988522single base substitutionGAdownstream_gene_variant
BRCA-EU1919885221988522single base substitutionGAexon_variant
BRCA-EU1919885221988522single base substitutionGAintron_variant
BRCA-EU1919886051988605single base substitutionCTdownstream_gene_variant
BRCA-EU1919886051988605single base substitutionCTintron_variant
BRCA-EU1919886051988605single base substitutionCTupstream_gene_variant
BRCA-EU1919888211988821single base substitutionCTdownstream_gene_variant
BRCA-EU1919888211988821single base substitutionCTintron_variant
BRCA-EU1919888211988821single base substitutionCTupstream_gene_variant
BRCA-EU1919888611988861single base substitutionCGdownstream_gene_variant
BRCA-EU1919888611988861single base substitutionCGintron_variant
BRCA-EU1919888611988861single base substitutionCGupstream_gene_variant
BRCA-EU1919889631988963single base substitutionGCdownstream_gene_variant
BRCA-EU1919889631988963single base substitutionGCintron_variant
BRCA-EU1919889631988963single base substitutionGCupstream_gene_variant
BRCA-EU1919893091989309single base substitutionGCdownstream_gene_variant
BRCA-EU1919893091989309single base substitutionGCintron_variant
BRCA-EU1919893091989309single base substitutionGCupstream_gene_variant
BRCA-EU1919904401990440single base substitutionCGdownstream_gene_variant
BRCA-EU1919904401990440single base substitutionCGintron_variant
BRCA-EU1919904401990440single base substitutionCGupstream_gene_variant
BRCA-EU1919908971990897single base substitutionGAdownstream_gene_variant
BRCA-EU1919908971990897single base substitutionGAexon_variant
BRCA-EU1919908971990897single base substitutionGAintron_variant
BRCA-EU1919908971990897single base substitutionGAupstream_gene_variant
BRCA-EU1919911231991123single base substitutionGAdownstream_gene_variant
BRCA-EU1919911231991123single base substitutionGAexon_variant
BRCA-EU1919911231991123single base substitutionGAintron_variant
BRCA-EU1919911231991123single base substitutionGAupstream_gene_variant
BRCA-EU1919913851991385single base substitutionCTdownstream_gene_variant
BRCA-EU1919913851991385single base substitutionCTintron_variant
BRCA-EU1919913851991385single base substitutionCTupstream_gene_variant
BRCA-EU1919922701992270deletion of <=200bpT-downstream_gene_variant
BRCA-EU1919922701992270deletion of <=200bpT-intron_variant
BRCA-EU1919922701992270deletion of <=200bpT-upstream_gene_variant
BRCA-EU1919930561993058deletion of <=200bpTTC-3_prime_UTR_variant
BRCA-EU1919930561993058deletion of <=200bpTTC-disruptive_inframe_deletionKN215N
BRCA-EU1919930561993058deletion of <=200bpTTC-disruptive_inframe_deletionKN66N
BRCA-EU1919930561993058deletion of <=200bpTTC-downstream_gene_variant
BRCA-EU1919930561993058deletion of <=200bpTTC-upstream_gene_variant
BRCA-EU1919944261994426single base substitutionGCdownstream_gene_variant
BRCA-EU1919944261994426single base substitutionGCintron_variant
BRCA-EU1919944261994426single base substitutionGCupstream_gene_variant
BRCA-EU1919944281994428single base substitutionAGdownstream_gene_variant
BRCA-EU1919944281994428single base substitutionAGintron_variant
BRCA-EU1919944281994428single base substitutionAGupstream_gene_variant
BRCA-EU1919960271996027single base substitutionAGdownstream_gene_variant
BRCA-EU1919960271996027single base substitutionAGintron_variant
BRCA-EU1919960271996027single base substitutionAGupstream_gene_variant
BRCA-EU1919963331996333insertion of <=200bp-Adownstream_gene_variant
BRCA-EU1919963331996333insertion of <=200bp-Aintron_variant
BRCA-EU1919968661996866single base substitutionGAdownstream_gene_variant
BRCA-EU1919968661996866single base substitutionGAintron_variant
BRCA-EU1919969951996995single base substitutionAGdownstream_gene_variant
BRCA-EU1919969951996995single base substitutionAGintron_variant
BRCA-EU1919977211997721single base substitutionCTintron_variant
BRCA-EU1919977211997721single base substitutionCTupstream_gene_variant
BRCA-EU1919984361998436single base substitutionGAintron_variant
BRCA-EU1919984361998436single base substitutionGAupstream_gene_variant
BRCA-EU1920000732000073single base substitutionGTintron_variant
BRCA-EU1920000732000073single base substitutionGTupstream_gene_variant
BRCA-EU1920052582005258single base substitutionGTintron_variant
BRCA-EU1920061012006101single base substitutionACintron_variant
BRCA-EU1920072502007250insertion of <=200bp-Aintron_variant
BRCA-EU1920079342007934single base substitutionGTintron_variant
BRCA-EU1920084492008449single base substitutionCGintron_variant
BRCA-EU1920101512010151deletion of <=200bpA-intron_variant
BRCA-EU1920110912011091single base substitutionGAintron_variant
BRCA-EU1920117112011711single base substitutionCTintron_variant
BRCA-EU1920144652014465single base substitutionGTintron_variant
BRCA-EU1920164142016414single base substitutionCGintron_variant
BRCA-EU1920164142016414single base substitutionCGupstream_gene_variant
BRCA-EU1920168532016853single base substitutionCTintron_variant
BRCA-EU1920168532016853single base substitutionCTupstream_gene_variant
BRCA-EU1920180592018059single base substitutionTAintron_variant
BRCA-EU1920180592018059single base substitutionTAupstream_gene_variant
BRCA-EU1920197642019764single base substitutionAGintron_variant
BRCA-EU1920197642019764single base substitutionAGupstream_gene_variant
BRCA-EU1920198402019840single base substitutionTGintron_variant
BRCA-EU1920198402019840single base substitutionTGupstream_gene_variant
BRCA-EU1920204732020473single base substitutionTAintron_variant
BRCA-EU1920204732020473single base substitutionTAupstream_gene_variant
BRCA-EU1920223902022390single base substitutionGCintron_variant
BRCA-EU1920227612022761single base substitutionCAintron_variant
BRCA-EU1920229612022961single base substitutionGAintron_variant
BRCA-EU1920230832023083single base substitutionGCintron_variant
BRCA-EU1920233032023303single base substitutionCGintron_variant
BRCA-EU1920237622023762single base substitutionGTintron_variant
BRCA-EU1920254032025403single base substitutionCAintron_variant
BRCA-EU1920255902025590single base substitutionGCintron_variant
BRCA-EU1920264182026418single base substitutionGAintron_variant
BRCA-EU1920268462026846insertion of <=200bp-Gintron_variant
BRCA-EU1920275662027566single base substitutionAGintron_variant
BRCA-EU1920302492030249single base substitutionTGintron_variant
BRCA-EU1920303672030367single base substitutionGAintron_variant
BRCA-EU1920318752031875single base substitutionGAintron_variant
BRCA-EU1920327732032773single base substitutionCTintron_variant
BRCA-EU1920346922034692single base substitutionCGintron_variant
BRCA-EU1920358922035892single base substitutionAGupstream_gene_variant
BRCA-EU1920359152035915single base substitutionGAupstream_gene_variant
BRCA-EU1920365602036562deletion of <=200bpAAG-upstream_gene_variant
BRCA-EU1920382472038247deletion of <=200bpT-upstream_gene_variant
BRCA-EU1920382472038247insertion of <=200bp-Tupstream_gene_variant
BRCA-EU1920389412038941single base substitutionAGupstream_gene_variant
BRCA-EU1920389922038992single base substitutionGTupstream_gene_variant
BRCA-FR1919808581980858single base substitutionCTdownstream_gene_variant
BRCA-FR1919885221988522single base substitutionGAdownstream_gene_variant
BRCA-FR1919885221988522single base substitutionGAexon_variant
BRCA-FR1919885221988522single base substitutionGAintron_variant
BRCA-FR1920168532016853single base substitutionCTintron_variant
BRCA-FR1920168532016853single base substitutionCTupstream_gene_variant
BRCA-FR1920201862020186single base substitutionGAintron_variant
BRCA-FR1920201862020186single base substitutionGAupstream_gene_variant
BRCA-FR1920359152035915single base substitutionGAupstream_gene_variant
BRCA-KR1920396902039690single base substitutionGTupstream_gene_variant
BRCA-UK1919886051988605single base substitutionCTdownstream_gene_variant
BRCA-UK1919886051988605single base substitutionCTintron_variant
BRCA-UK1919886051988605single base substitutionCTupstream_gene_variant
BRCA-UK1919891531989153single base substitutionGAdownstream_gene_variant
BRCA-UK1919891531989153single base substitutionGAintron_variant
BRCA-UK1919891531989153single base substitutionGAupstream_gene_variant
BRCA-UK1920237622023762single base substitutionGTintron_variant
BRCA-UK1920302492030249single base substitutionTGintron_variant
BRCA-UK1920324862032486single base substitutionCTintron_variant
BRCA-UK1920326452032645single base substitutionATintron_variant
BRCA-US1920396592039659deletion of <=200bpC-upstream_gene_variant
BTCA-JP1919804731980473deletion of <=200bpA-downstream_gene_variant
BTCA-JP1919931281993128single base substitutionGA3_prime_UTR_variant
BTCA-JP1919931281993128single base substitutionGAdownstream_gene_variant
BTCA-JP1919931281993128single base substitutionGAexon_variant
BTCA-JP1919931281993128single base substitutionGAmissense_variantT192I575C>T
BTCA-JP1919931281993128single base substitutionGAmissense_variantT43I128C>T
BTCA-JP1919931281993128single base substitutionGAupstream_gene_variant
BTCA-JP1919932571993257single base substitutionGAdownstream_gene_variant
BTCA-JP1919932571993257single base substitutionGAintron_variant
BTCA-JP1919932571993257single base substitutionGAupstream_gene_variant
BTCA-JP1920378342037834single base substitutionGAupstream_gene_variant
CLLE-ES1919877421987742single base substitutionCAdownstream_gene_variant
CLLE-ES1919877421987742single base substitutionCAexon_variant
CLLE-ES1919877421987742single base substitutionCAintron_variant
CLLE-ES1920196942019694single base substitutionGCintron_variant
CLLE-ES1920196942019694single base substitutionGCupstream_gene_variant
CLLE-ES1920346192034619single base substitutionGAintron_variant
COAD-US1919875531987553single base substitutionCTdownstream_gene_variant
COAD-US1919875531987553single base substitutionCTexon_variant
COAD-US1919875531987553single base substitutionCTmissense_variantR287H860G>A
COAD-US1919875531987553single base substitutionCTmissense_variantR376H1127G>A
COAD-US1919876361987636single base substitutionGTdownstream_gene_variant
COAD-US1919876361987636single base substitutionGTexon_variant
COAD-US1919876361987636single base substitutionGTmissense_variantH259Q777C>A
COAD-US1919876361987636single base substitutionGTmissense_variantH348Q1044C>A
COAD-US1919907411990741single base substitutionCT3_prime_UTR_variant
COAD-US1919907411990741single base substitutionCTdownstream_gene_variant
COAD-US1919907411990741single base substitutionCTexon_variant
COAD-US1919907411990741single base substitutionCTsynonymous_variantA166A498G>A
COAD-US1919907411990741single base substitutionCTsynonymous_variantA255A765G>A
COAD-US1919907411990741single base substitutionCTupstream_gene_variant
COAD-US1919973631997363single base substitutionAG3_prime_UTR_variant
COAD-US1919973631997363single base substitutionAGexon_variant
COAD-US1919973631997363single base substitutionAGsynonymous_variantA169A507T>C
COAD-US1919973631997363single base substitutionAGsynonymous_variantA20A60T>C
COAD-US1919974411997441single base substitutionGA3_prime_UTR_variant
COAD-US1919974411997441single base substitutionGAexon_variant
COAD-US1919974411997441single base substitutionGAsynonymous_variantS143S429C>T
COAD-US1919974411997441single base substitutionGAupstream_gene_variant
COCA-CN1919804541980454single base substitutionTGdownstream_gene_variant
COCA-CN1919864491986449single base substitutionAG3_prime_UTR_variant
COCA-CN1919864491986449single base substitutionAGdownstream_gene_variant
COCA-CN1919864491986449single base substitutionAGexon_variant
COCA-CN1919868251986825single base substitutionGAdownstream_gene_variant
COCA-CN1919868251986825single base substitutionGAsplice_region_variant
COCA-CN1919873861987386single base substitutionGAdownstream_gene_variant
COCA-CN1919873861987386single base substitutionGAexon_variant
COCA-CN1919873861987386single base substitutionGAintron_variant
COCA-CN1919875781987578single base substitutionGAdownstream_gene_variant
COCA-CN1919875781987578single base substitutionGAexon_variant
COCA-CN1919875781987578single base substitutionGAmissense_variantR279C835C>T
COCA-CN1919875781987578single base substitutionGAmissense_variantR368C1102C>T
COCA-CN1919901291990129single base substitutionGA3_prime_UTR_variant
COCA-CN1919901291990129single base substitutionGAdownstream_gene_variant
COCA-CN1919901291990129single base substitutionGAexon_variant
COCA-CN1919901291990129single base substitutionGAmissense_variantR199C595C>T
COCA-CN1919901291990129single base substitutionGAmissense_variantR288C862C>T
COCA-CN1919901291990129single base substitutionGAupstream_gene_variant
COCA-CN1920370472037047single base substitutionAGupstream_gene_variant
COCA-CN1920378422037842single base substitutionACupstream_gene_variant
EOPC-DE1920106402010640single base substitutionACintron_variant
EOPC-DE1920254702025470single base substitutionCTintron_variant
EOPC-DE1920310432031043single base substitutionGAintron_variant
ESAD-UK1919865961986596single base substitutionGAdownstream_gene_variant
ESAD-UK1919865961986596single base substitutionGAexon_variant
ESAD-UK1919865961986596single base substitutionGAmissense_variantS490L1469C>T
ESAD-UK1919887711988771single base substitutionCAdownstream_gene_variant
ESAD-UK1919887711988771single base substitutionCAintron_variant
ESAD-UK1919887711988771single base substitutionCAupstream_gene_variant
ESAD-UK1919889141988914single base substitutionTCdownstream_gene_variant
ESAD-UK1919889141988914single base substitutionTCintron_variant
ESAD-UK1919889141988914single base substitutionTCupstream_gene_variant
ESAD-UK1919917731991773single base substitutionCTdownstream_gene_variant
ESAD-UK1919917731991773single base substitutionCTintron_variant
ESAD-UK1919917731991773single base substitutionCTupstream_gene_variant
ESAD-UK1919933071993307single base substitutionCGdownstream_gene_variant
ESAD-UK1919933071993307single base substitutionCGintron_variant
ESAD-UK1919933071993307single base substitutionCGupstream_gene_variant
ESAD-UK1919964611996461single base substitutionCGdownstream_gene_variant
ESAD-UK1919964611996461single base substitutionCGintron_variant
ESAD-UK1919964781996478deletion of <=200bpT-downstream_gene_variant
ESAD-UK1919964781996478deletion of <=200bpT-intron_variant
ESAD-UK1919969971996997single base substitutionTCdownstream_gene_variant
ESAD-UK1919969971996997single base substitutionTCintron_variant
ESAD-UK1919970521997052single base substitutionGCdownstream_gene_variant
ESAD-UK1919970521997052single base substitutionGCintron_variant
ESAD-UK1919978311997831single base substitutionGAintron_variant
ESAD-UK1919978311997831single base substitutionGAupstream_gene_variant
ESAD-UK1919988631998863single base substitutionGAintron_variant
ESAD-UK1919988631998863single base substitutionGAupstream_gene_variant
ESAD-UK1919989481998948single base substitutionGAintron_variant
ESAD-UK1919989481998948single base substitutionGAupstream_gene_variant
ESAD-UK1919994571999457single base substitutionGTintron_variant
ESAD-UK1919994571999457single base substitutionGTupstream_gene_variant
ESAD-UK1920001922000192deletion of <=200bpC-intron_variant
ESAD-UK1920001922000192deletion of <=200bpC-upstream_gene_variant
ESAD-UK1920002192000219single base substitutionGTintron_variant
ESAD-UK1920002192000219single base substitutionGTupstream_gene_variant
ESAD-UK1920018252001825single base substitutionCGintron_variant
ESAD-UK1920018252001825single base substitutionCGupstream_gene_variant
ESAD-UK1920057442005744single base substitutionGAintron_variant
ESAD-UK1920095802009580single base substitutionGAintron_variant
ESAD-UK1920105142010514single base substitutionGAintron_variant
ESAD-UK1920127172012717deletion of <=200bpC-intron_variant
ESAD-UK1920148092014809single base substitutionCAintron_variant
ESAD-UK1920171562017156single base substitutionACintron_variant
ESAD-UK1920171562017156single base substitutionACupstream_gene_variant
ESAD-UK1920182672018267single base substitutionGTintron_variant
ESAD-UK1920182672018267single base substitutionGTupstream_gene_variant
ESAD-UK1920235862023586single base substitutionGAintron_variant
ESAD-UK1920263342026334single base substitutionCGintron_variant
ESAD-UK1920298822029882single base substitutionGAintron_variant
ESAD-UK1920366592036659single base substitutionCTupstream_gene_variant
ESAD-UK1920378422037842single base substitutionACupstream_gene_variant
ESAD-UK1920396762039676single base substitutionGAupstream_gene_variant
ESCA-CN1919868761986876single base substitutionCTdownstream_gene_variant
ESCA-CN1919868761986876single base substitutionCTexon_variant
ESCA-CN1919868761986876single base substitutionCTmissense_variantV457M1369G>A
ESCA-CN1919973631997363single base substitutionAG3_prime_UTR_variant
ESCA-CN1919973631997363single base substitutionAGexon_variant
ESCA-CN1919973631997363single base substitutionAGsynonymous_variantA169A507T>C
ESCA-CN1919973631997363single base substitutionAGsynonymous_variantA20A60T>C
KIRC-US1919865021986502single base substitutionGAdownstream_gene_variant
KIRC-US1919865021986502single base substitutionGAexon_variant
KIRC-US1919865021986502single base substitutionGAsynonymous_variantV521V1563C>T
KIRC-US1919931331993133single base substitutionCT3_prime_UTR_variant
KIRC-US1919931331993133single base substitutionCTdownstream_gene_variant
KIRC-US1919931331993133single base substitutionCTexon_variant
KIRC-US1919931331993133single base substitutionCTsynonymous_variantV190V570G>A
KIRC-US1919931331993133single base substitutionCTsynonymous_variantV41V123G>A
KIRC-US1919931331993133single base substitutionCTupstream_gene_variant
KIRP-US1919868771986877single base substitutionCGdownstream_gene_variant
KIRP-US1919868771986877single base substitutionCGexon_variant
KIRP-US1919868771986877single base substitutionCGsynonymous_variantP456P1368G>C
KIRP-US1919869581986958single base substitutionGAdownstream_gene_variant
KIRP-US1919869581986958single base substitutionGAexon_variant
KIRP-US1919869581986958single base substitutionGAsynonymous_variantS429S1287C>T
KIRP-US1920153652015365deletion of <=200bpT-exon_variant
KIRP-US1920153652015365deletion of <=200bpT-frameshift_variantN113
KIRP-US1920153652015365deletion of <=200bpT-intron_variant
LAML-KR1919838881983888single base substitutionAGdownstream_gene_variant
LAML-KR1919872791987279single base substitutionCTdownstream_gene_variant
LAML-KR1919872791987279single base substitutionCTexon_variant
LAML-KR1919872791987279single base substitutionCTintron_variant
LAML-KR1919955031995503single base substitutionGCdownstream_gene_variant
LAML-KR1919955031995503single base substitutionGCintron_variant
LAML-KR1919955031995503single base substitutionGCupstream_gene_variant
LAML-KR1920313432031343single base substitutionGAintron_variant
LAML-KR1920313452031345single base substitutionAGintron_variant
LGG-US1919875391987539single base substitutionCTdownstream_gene_variant
LGG-US1919875391987539single base substitutionCTexon_variant
LGG-US1919875391987539single base substitutionCTmissense_variantE292K874G>A
LGG-US1919875391987539single base substitutionCTmissense_variantE381K1141G>A
LGG-US1920396752039675single base substitutionCTupstream_gene_variant
LICA-CN1919869061986906single base substitutionTAdownstream_gene_variant
LICA-CN1919869061986906single base substitutionTAexon_variant
LICA-CN1919869061986906single base substitutionTAmissense_variantS447C1339A>T
LICA-FR1919908201990820single base substitutionGTdownstream_gene_variant
LICA-FR1919908201990820single base substitutionGTexon_variant
LICA-FR1919908201990820single base substitutionGTmissense_variantA140E419C>A
LICA-FR1919908201990820single base substitutionGTmissense_variantA229E686C>A
LICA-FR1919908201990820single base substitutionGTsplice_region_variant
LICA-FR1919908201990820single base substitutionGTupstream_gene_variant
LICA-FR1919993611999361single base substitutionTGintron_variant
LICA-FR1919993611999361single base substitutionTGupstream_gene_variant
LICA-FR1920346822034682single base substitutionTAintron_variant
LICA-FR1920391452039145single base substitutionTCupstream_gene_variant
LIHC-US1919974251997425single base substitutionTC3_prime_UTR_variant
LIHC-US1919974251997425single base substitutionTCexon_variant
LIHC-US1919974251997425single base substitutionTCmissense_variantM149V445A>G
LIHC-US1919974251997425single base substitutionTCupstream_gene_variant
LINC-JP1919873981987398single base substitutionAGdownstream_gene_variant
LINC-JP1919873981987398single base substitutionAGexon_variant
LINC-JP1919873981987398single base substitutionAGintron_variant
LINC-JP1919993611999361single base substitutionTGintron_variant
LINC-JP1919993611999361single base substitutionTGupstream_gene_variant
LINC-JP1920250562025058deletion of <=200bpTTG-intron_variant
LINC-JP1920260602026060single base substitutionGAintron_variant
LINC-JP1920268302026830single base substitutionGAintron_variant
LINC-JP1920331582033158single base substitutionATintron_variant
LINC-JP1920346072034607single base substitutionGAintron_variant
LINC-JP1920368452036845single base substitutionTCupstream_gene_variant
LINC-JP1920379042037904single base substitutionGAupstream_gene_variant
LIRI-JP1919839411983941single base substitutionAGdownstream_gene_variant
LIRI-JP1919896111989611single base substitutionATdownstream_gene_variant
LIRI-JP1919896111989611single base substitutionATintron_variant
LIRI-JP1919896111989611single base substitutionATupstream_gene_variant
LIRI-JP1919915641991564single base substitutionGAdownstream_gene_variant
LIRI-JP1919915641991564single base substitutionGAintron_variant
LIRI-JP1919915641991564single base substitutionGAupstream_gene_variant
LIRI-JP1919977571997757single base substitutionAGintron_variant
LIRI-JP1919977571997757single base substitutionAGupstream_gene_variant
LIRI-JP1920029282002928single base substitutionAGintron_variant
LIRI-JP1920088722008872single base substitutionACintron_variant
LIRI-JP1920088922008892single base substitutionACintron_variant
LIRI-JP1920111152011115single base substitutionGAintron_variant
LIRI-JP1920114122011412single base substitutionAGintron_variant
LIRI-JP1920168502016850single base substitutionTAintron_variant
LIRI-JP1920168502016850single base substitutionTAupstream_gene_variant
LIRI-JP1920169762016976single base substitutionCTintron_variant
LIRI-JP1920169762016976single base substitutionCTupstream_gene_variant
LIRI-JP1920170402017040single base substitutionGTintron_variant
LIRI-JP1920170402017040single base substitutionGTsplice_region_variant
LIRI-JP1920170402017040single base substitutionGTupstream_gene_variant
LIRI-JP1920172102017210single base substitutionGAexon_variant
LIRI-JP1920172102017210single base substitutionGAupstream_gene_variant
LIRI-JP1920197762019776single base substitutionACintron_variant
LIRI-JP1920197762019776single base substitutionACupstream_gene_variant
LIRI-JP1920216522021652single base substitutionCAintron_variant
LIRI-JP1920222512022251single base substitutionTCintron_variant
LIRI-JP1920225832022583single base substitutionTCintron_variant
LIRI-JP1920228512022851single base substitutionGTintron_variant
LIRI-JP1920245372024537single base substitutionACintron_variant
LIRI-JP1920255562025556single base substitutionCGintron_variant
LIRI-JP1920262792026279single base substitutionTCintron_variant
LIRI-JP1920280332028033single base substitutionGCintron_variant
LIRI-JP1920333252033325single base substitutionGTintron_variant
LIRI-JP1920336342033634single base substitutionCAintron_variant
LUSC-KR1919855731985573single base substitutionTG3_prime_UTR_variant
LUSC-KR1919855731985573single base substitutionTGdownstream_gene_variant
LUSC-KR1919855731985573single base substitutionTGexon_variant
LUSC-KR1919864551986455single base substitutionAG3_prime_UTR_variant
LUSC-KR1919864551986455single base substitutionAGdownstream_gene_variant
LUSC-KR1919864551986455single base substitutionAGexon_variant
LUSC-KR1919953971995397single base substitutionCTdownstream_gene_variant
LUSC-KR1919953971995397single base substitutionCTintron_variant
LUSC-KR1919953971995397single base substitutionCTupstream_gene_variant
LUSC-KR1919973631997363single base substitutionAG3_prime_UTR_variant
LUSC-KR1919973631997363single base substitutionAGexon_variant
LUSC-KR1919973631997363single base substitutionAGsynonymous_variantA169A507T>C
LUSC-KR1919973631997363single base substitutionAGsynonymous_variantA20A60T>C
LUSC-KR1920005252000525single base substitutionCGintron_variant
LUSC-KR1920005252000525single base substitutionCGupstream_gene_variant
LUSC-KR1920017602001760single base substitutionGAintron_variant
LUSC-KR1920017602001760single base substitutionGAupstream_gene_variant
LUSC-KR1920078552007855single base substitutionTCintron_variant
LUSC-KR1920098962009896single base substitutionTGintron_variant
LUSC-KR1920106372010637single base substitutionCTintron_variant
LUSC-KR1920121272012127single base substitutionACintron_variant
LUSC-KR1920134112013411single base substitutionGTintron_variant
LUSC-KR1920167022016702single base substitutionGAintron_variant
LUSC-KR1920167022016702single base substitutionGAupstream_gene_variant
LUSC-KR1920175432017543single base substitutionGCintron_variant
LUSC-KR1920175432017543single base substitutionGCupstream_gene_variant
LUSC-KR1920178562017856single base substitutionCTintron_variant
LUSC-KR1920178562017856single base substitutionCTupstream_gene_variant
LUSC-KR1920191112019111single base substitutionCTintron_variant
LUSC-KR1920191112019111single base substitutionCTupstream_gene_variant
LUSC-KR1920201472020147single base substitutionCAintron_variant
LUSC-KR1920201472020147single base substitutionCAupstream_gene_variant
LUSC-KR1920231662023166single base substitutionCTintron_variant
LUSC-KR1920247832024783single base substitutionCTintron_variant
LUSC-KR1920251712025171single base substitutionCAintron_variant
LUSC-KR1920263882026388single base substitutionCAintron_variant
LUSC-KR1920278942027894single base substitutionGAintron_variant
LUSC-KR1920307822030782single base substitutionCAintron_variant
LUSC-KR1920348982034898single base substitutionCTupstream_gene_variant
LUSC-KR1920370232037023single base substitutionGCupstream_gene_variant
LUSC-KR1920386612038661single base substitutionGCupstream_gene_variant
MALY-DE1919845861984586single base substitutionGAdownstream_gene_variant
MALY-DE1919865531986553single base substitutionCTdownstream_gene_variant
MALY-DE1919865531986553single base substitutionCTexon_variant
MALY-DE1919865531986553single base substitutionCTsynonymous_variantA504A1512G>A
MALY-DE1919881771988177single base substitutionCTdownstream_gene_variant
MALY-DE1919881771988177single base substitutionCTexon_variant
MALY-DE1919881771988177single base substitutionCTintron_variant
MALY-DE1919913851991385single base substitutionCTdownstream_gene_variant
MALY-DE1919913851991385single base substitutionCTintron_variant
MALY-DE1919913851991385single base substitutionCTupstream_gene_variant
MALY-DE1919947551994755single base substitutionCGdownstream_gene_variant
MALY-DE1919947551994755single base substitutionCGintron_variant
MALY-DE1919947551994755single base substitutionCGupstream_gene_variant
MALY-DE1920022482002249deletion of <=200bpTG-intron_variant
MALY-DE1920022482002249deletion of <=200bpTG-upstream_gene_variant
MALY-DE1920057912005791single base substitutionAGintron_variant
MALY-DE1920131282013128single base substitutionAGintron_variant
MALY-DE1920131572013157single base substitutionATintron_variant
MALY-DE1920197712019771single base substitutionTCintron_variant
MALY-DE1920197712019771single base substitutionTCupstream_gene_variant
MALY-DE1920271162027132deletion of <=200bpCACACACACCAGACACA-intron_variant
MALY-DE1920277982027798single base substitutionACintron_variant
MALY-DE1920294882029511deletion of <=200bpCTTAGTTTGTTACTAAGTTTGTTA-intron_variant
MALY-DE1920326022032602single base substitutionAGintron_variant
MALY-DE1920346642034664single base substitutionAGintron_variant
MALY-DE1920363882036388single base substitutionACupstream_gene_variant
MALY-DE1920370142037014insertion of <=200bp-Tupstream_gene_variant
MALY-DE1920378422037842single base substitutionACupstream_gene_variant
MALY-DE1920386012038601single base substitutionGAupstream_gene_variant
MELA-AU1919806321980632single base substitutionTCdownstream_gene_variant
MELA-AU1919809531980953single base substitutionCGdownstream_gene_variant
MELA-AU1919816971981697single base substitutionCTdownstream_gene_variant
MELA-AU1919818481981848single base substitutionCTdownstream_gene_variant
MELA-AU1919820461982046single base substitutionCTdownstream_gene_variant
MELA-AU1919820521982052single base substitutionCTdownstream_gene_variant
MELA-AU1919820631982063single base substitutionCTdownstream_gene_variant
MELA-AU1919821171982117single base substitutionCTdownstream_gene_variant
MELA-AU1919824921982492single base substitutionAGdownstream_gene_variant
MELA-AU1919849381984939multiple base substitution (>=2bp and <=200bp)CCTTdownstream_gene_variant
MELA-AU1919864601986460single base substitutionGA3_prime_UTR_variant
MELA-AU1919864601986460single base substitutionGAdownstream_gene_variant
MELA-AU1919864601986460single base substitutionGAexon_variant
MELA-AU1919865111986511single base substitutionGAdownstream_gene_variant
MELA-AU1919865111986511single base substitutionGAexon_variant
MELA-AU1919865111986511single base substitutionGAsynonymous_variantI518I1554C>T
MELA-AU1919870261987026single base substitutionGAdownstream_gene_variant
MELA-AU1919870261987026single base substitutionGAintron_variant
MELA-AU1919878991987899single base substitutionCTdownstream_gene_variant
MELA-AU1919878991987899single base substitutionCTexon_variant
MELA-AU1919878991987899single base substitutionCTintron_variant
MELA-AU1919882481988248single base substitutionGAdownstream_gene_variant
MELA-AU1919882481988248single base substitutionGAexon_variant
MELA-AU1919882481988248single base substitutionGAintron_variant
MELA-AU1919895921989592single base substitutionGAdownstream_gene_variant
MELA-AU1919895921989592single base substitutionGAintron_variant
MELA-AU1919895921989592single base substitutionGAupstream_gene_variant
MELA-AU1919904731990473single base substitutionGAdownstream_gene_variant
MELA-AU1919904731990473single base substitutionGAintron_variant
MELA-AU1919904731990473single base substitutionGAupstream_gene_variant
MELA-AU1919905491990549single base substitutionGAdownstream_gene_variant
MELA-AU1919905491990549single base substitutionGAintron_variant
MELA-AU1919905491990549single base substitutionGAupstream_gene_variant
MELA-AU1919906261990626deletion of <=200bpC-downstream_gene_variant
MELA-AU1919906261990626deletion of <=200bpC-intron_variant
MELA-AU1919906261990626deletion of <=200bpC-upstream_gene_variant
MELA-AU1919915321991532single base substitutionGAdownstream_gene_variant
MELA-AU1919915321991532single base substitutionGAintron_variant
MELA-AU1919915321991532single base substitutionGAupstream_gene_variant
MELA-AU1919927571992757single base substitutionGAdownstream_gene_variant
MELA-AU1919927571992757single base substitutionGAintron_variant
MELA-AU1919927571992757single base substitutionGAupstream_gene_variant
MELA-AU1919935311993531single base substitutionGAdownstream_gene_variant
MELA-AU1919935311993531single base substitutionGAintron_variant
MELA-AU1919935311993531single base substitutionGAupstream_gene_variant
MELA-AU1919936291993629single base substitutionGAdownstream_gene_variant
MELA-AU1919936291993629single base substitutionGAintron_variant
MELA-AU1919936291993629single base substitutionGAupstream_gene_variant
MELA-AU1919952351995235single base substitutionGAdownstream_gene_variant
MELA-AU1919952351995235single base substitutionGAintron_variant
MELA-AU1919952351995235single base substitutionGAupstream_gene_variant
MELA-AU1919954061995406single base substitutionGAdownstream_gene_variant
MELA-AU1919954061995406single base substitutionGAintron_variant
MELA-AU1919954061995406single base substitutionGAupstream_gene_variant
MELA-AU1919963541996354single base substitutionGAdownstream_gene_variant
MELA-AU1919963541996354single base substitutionGAintron_variant
MELA-AU1919971051997105single base substitutionGAdownstream_gene_variant
MELA-AU1919971051997105single base substitutionGAintron_variant
MELA-AU1919971661997166single base substitutionGAdownstream_gene_variant
MELA-AU1919971661997166single base substitutionGAintron_variant
MELA-AU1919974591997459single base substitutionGA3_prime_UTR_variant
MELA-AU1919974591997459single base substitutionGAexon_variant
MELA-AU1919974591997459single base substitutionGAsynonymous_variantF137F411C>T
MELA-AU1919974591997459single base substitutionGAupstream_gene_variant
MELA-AU1919974661997466single base substitutionGAintron_variant
MELA-AU1919974661997466single base substitutionGAsplice_region_variant
MELA-AU1919974661997466single base substitutionGAupstream_gene_variant
MELA-AU1919980011998001single base substitutionTAintron_variant
MELA-AU1919980011998001single base substitutionTAupstream_gene_variant
MELA-AU1919982761998276single base substitutionGAintron_variant
MELA-AU1919982761998276single base substitutionGAupstream_gene_variant
MELA-AU1919982891998289single base substitutionGAintron_variant
MELA-AU1919982891998289single base substitutionGAupstream_gene_variant
MELA-AU1919985371998537single base substitutionCAintron_variant
MELA-AU1919985371998537single base substitutionCAupstream_gene_variant
MELA-AU1919987711998771single base substitutionGAintron_variant
MELA-AU1919987711998771single base substitutionGAupstream_gene_variant
MELA-AU1920003422000342single base substitutionGAintron_variant
MELA-AU1920003422000342single base substitutionGAupstream_gene_variant
MELA-AU1920008932000893single base substitutionGAintron_variant
MELA-AU1920008932000893single base substitutionGAupstream_gene_variant
MELA-AU1920018532001853single base substitutionCTintron_variant
MELA-AU1920018532001853single base substitutionCTupstream_gene_variant
MELA-AU1920025682002568single base substitutionGAintron_variant
MELA-AU1920030842003084single base substitutionGAintron_variant
MELA-AU1920032082003208single base substitutionCAintron_variant
MELA-AU1920035002003500single base substitutionGAintron_variant
MELA-AU1920036972003697single base substitutionGAintron_variant
MELA-AU1920038422003842single base substitutionCTintron_variant
MELA-AU1920038482003849multiple base substitution (>=2bp and <=200bp)GGTAintron_variant
MELA-AU1920038632003863single base substitutionGAintron_variant
MELA-AU1920041382004138single base substitutionAGintron_variant
MELA-AU1920042862004286single base substitutionAGintron_variant
MELA-AU1920055402005540single base substitutionGAintron_variant
MELA-AU1920063442006344single base substitutionATintron_variant
MELA-AU1920065912006591single base substitutionACintron_variant
MELA-AU1920079382007938single base substitutionGAintron_variant
MELA-AU1920095902009590single base substitutionGAintron_variant
MELA-AU1920100772010077single base substitutionGAintron_variant
MELA-AU1920101652010165single base substitutionGAintron_variant
MELA-AU1920103552010356multiple base substitution (>=2bp and <=200bp)CCATintron_variant
MELA-AU1920117812011781single base substitutionGAintron_variant
MELA-AU1920120662012066single base substitutionGAintron_variant
MELA-AU1920137162013716single base substitutionCT3_prime_UTR_variant
MELA-AU1920137162013716single base substitutionCTintron_variant
MELA-AU1920138252013825single base substitutionGA3_prime_UTR_variant
MELA-AU1920138252013825single base substitutionGAintron_variant
MELA-AU1920139952013995single base substitutionGAintron_variant
MELA-AU1920145302014530single base substitutionGAintron_variant
MELA-AU1920146062014606single base substitutionGAintron_variant
MELA-AU1920163382016338single base substitutionCTintron_variant
MELA-AU1920163382016338single base substitutionCTupstream_gene_variant
MELA-AU1920163882016388single base substitutionCTintron_variant
MELA-AU1920163882016388single base substitutionCTupstream_gene_variant
MELA-AU1920167252016725single base substitutionCTintron_variant
MELA-AU1920167252016725single base substitutionCTupstream_gene_variant
MELA-AU1920170032017003single base substitutionCTintron_variant
MELA-AU1920170032017003single base substitutionCTupstream_gene_variant
MELA-AU1920173442017344single base substitutionGAintron_variant
MELA-AU1920173442017344single base substitutionGAupstream_gene_variant
MELA-AU1920174332017433single base substitutionTAintron_variant
MELA-AU1920174332017433single base substitutionTAupstream_gene_variant
MELA-AU1920179332017933single base substitutionCTintron_variant
MELA-AU1920179332017933single base substitutionCTupstream_gene_variant
MELA-AU1920182822018282single base substitutionGAintron_variant
MELA-AU1920182822018282single base substitutionGAupstream_gene_variant
MELA-AU1920183642018364single base substitutionCTintron_variant
MELA-AU1920183642018364single base substitutionCTupstream_gene_variant
MELA-AU1920184292018429single base substitutionGAintron_variant
MELA-AU1920184292018429single base substitutionGAupstream_gene_variant
MELA-AU1920185852018585single base substitutionCAintron_variant
MELA-AU1920185852018585single base substitutionCAupstream_gene_variant
MELA-AU1920186342018634single base substitutionCTintron_variant
MELA-AU1920186342018634single base substitutionCTupstream_gene_variant
MELA-AU1920186582018658single base substitutionGAintron_variant
MELA-AU1920186582018658single base substitutionGAupstream_gene_variant
MELA-AU1920190322019032single base substitutionCTintron_variant
MELA-AU1920190322019032single base substitutionCTupstream_gene_variant
MELA-AU1920195302019530single base substitutionGAintron_variant
MELA-AU1920195302019530single base substitutionGAupstream_gene_variant
MELA-AU1920197972019797single base substitutionCTintron_variant
MELA-AU1920197972019797single base substitutionCTupstream_gene_variant
MELA-AU1920202472020247single base substitutionCTintron_variant
MELA-AU1920202472020247single base substitutionCTupstream_gene_variant
MELA-AU1920206822020682single base substitutionCTintron_variant
MELA-AU1920206822020682single base substitutionCTupstream_gene_variant
MELA-AU1920209202020920single base substitutionCTintron_variant
MELA-AU1920209322020932single base substitutionCTintron_variant
MELA-AU1920211142021114single base substitutionGAintron_variant
MELA-AU1920213742021374single base substitutionCTintron_variant
MELA-AU1920217562021756single base substitutionCTintron_variant
MELA-AU1920219022021902single base substitutionCTintron_variant
MELA-AU1920221282022128single base substitutionGAintron_variant
MELA-AU1920221682022168single base substitutionGAintron_variant
MELA-AU1920223192022319single base substitutionGAintron_variant
MELA-AU1920225502022550single base substitutionCTintron_variant
MELA-AU1920226882022688single base substitutionCTintron_variant
MELA-AU1920227202022720single base substitutionCTintron_variant
MELA-AU1920233242023324single base substitutionCTintron_variant
MELA-AU1920234642023464single base substitutionCTintron_variant
MELA-AU1920237032023703single base substitutionGAintron_variant
MELA-AU1920239562023956single base substitutionCTintron_variant
MELA-AU1920247182024718single base substitutionGAintron_variant
MELA-AU1920251382025138single base substitutionGAintron_variant
MELA-AU1920254232025423single base substitutionCTintron_variant
MELA-AU1920259572025957single base substitutionGAintron_variant
MELA-AU1920264982026498single base substitutionGAintron_variant
MELA-AU1920277202027720single base substitutionGAintron_variant
MELA-AU1920280332028033single base substitutionGAintron_variant
MELA-AU1920280842028084single base substitutionGAintron_variant
MELA-AU1920282832028283single base substitutionGCintron_variant
MELA-AU1920283882028388single base substitutionGAintron_variant
MELA-AU1920284152028415single base substitutionGAintron_variant
MELA-AU1920286782028678single base substitutionCTintron_variant
MELA-AU1920291022029102single base substitutionCTintron_variant
MELA-AU1920301942030194single base substitutionGAintron_variant
MELA-AU1920303142030314single base substitutionGAintron_variant
MELA-AU1920307062030706single base substitutionTCintron_variant
MELA-AU1920307492030749single base substitutionCTintron_variant
MELA-AU1920309442030944single base substitutionCTintron_variant
MELA-AU1920309942030994single base substitutionGAintron_variant
MELA-AU1920313012031301single base substitutionCTintron_variant
MELA-AU1920315252031525single base substitutionGAintron_variant
MELA-AU1920319832031983single base substitutionCTintron_variant
MELA-AU1920323952032395single base substitutionCTintron_variant
MELA-AU1920333592033359single base substitutionGAintron_variant
MELA-AU1920337572033757single base substitutionGAintron_variant
MELA-AU1920338152033815single base substitutionGAintron_variant
MELA-AU1920340482034048single base substitutionCTintron_variant
MELA-AU1920343482034348single base substitutionGAintron_variant
MELA-AU1920351022035102single base substitutionCTupstream_gene_variant
MELA-AU1920351722035172single base substitutionCTupstream_gene_variant
MELA-AU1920351842035185multiple base substitution (>=2bp and <=200bp)CCTTupstream_gene_variant
MELA-AU1920352182035218single base substitutionCTupstream_gene_variant
MELA-AU1920352982035298single base substitutionGCupstream_gene_variant
MELA-AU1920359052035905single base substitutionCTupstream_gene_variant
MELA-AU1920363532036353single base substitutionCTupstream_gene_variant
MELA-AU1920363702036370single base substitutionGAupstream_gene_variant
MELA-AU1920369042036904single base substitutionCTupstream_gene_variant
MELA-AU1920383072038307single base substitutionGAupstream_gene_variant
MELA-AU1920383742038374single base substitutionAGupstream_gene_variant
MELA-AU1920385222038522single base substitutionGAupstream_gene_variant
MELA-AU1920387222038722single base substitutionGAupstream_gene_variant
ORCA-IN1920002232000223single base substitutionCTintron_variant
ORCA-IN1920002232000223single base substitutionCTupstream_gene_variant
ORCA-IN1920191542019154single base substitutionGAintron_variant
ORCA-IN1920191542019154single base substitutionGAupstream_gene_variant
ORCA-IN1920315022031502single base substitutionGCintron_variant
OV-AU1919879291987929single base substitutionCGdownstream_gene_variant
OV-AU1919879291987929single base substitutionCGexon_variant
OV-AU1919879291987929single base substitutionCGintron_variant
OV-AU1919981091998109single base substitutionCTintron_variant
OV-AU1919981091998109single base substitutionCTupstream_gene_variant
OV-AU1920043102004310single base substitutionTAintron_variant
OV-AU1920049432004943single base substitutionCTintron_variant
OV-AU1920066822006682single base substitutionTCintron_variant
OV-AU1920073122007312single base substitutionGCintron_variant
OV-AU1920083872008387single base substitutionCTintron_variant
OV-AU1920121812012181single base substitutionTCintron_variant
OV-AU1920136132013613single base substitutionGA3_prime_UTR_variant
OV-AU1920136132013613single base substitutionGAintron_variant
OV-AU1920211972021197single base substitutionGCintron_variant
OV-AU1920321932032193single base substitutionAGintron_variant
OV-AU1920336252033625single base substitutionTAintron_variant
OV-AU1920352632035263single base substitutionTAupstream_gene_variant
OV-AU1920382482038248single base substitutionTAupstream_gene_variant
OV-US1919974161997416single base substitutionCT3_prime_UTR_variant
OV-US1919974161997416single base substitutionCTexon_variant
OV-US1919974161997416single base substitutionCTmissense_variantG152R454G>A
OV-US1919974161997416single base substitutionCTmissense_variantG3R7G>A
PACA-AU1919825091982509single base substitutionGTdownstream_gene_variant
PACA-AU1919845451984545single base substitutionCGdownstream_gene_variant
PACA-AU1919855861985586single base substitutionGA3_prime_UTR_variant
PACA-AU1919855861985586single base substitutionGAdownstream_gene_variant
PACA-AU1919855861985586single base substitutionGAexon_variant
PACA-AU1919869621986962deletion of <=200bpT-downstream_gene_variant
PACA-AU1919869621986962deletion of <=200bpT-exon_variant
PACA-AU1919869621986962deletion of <=200bpT-frameshift_variantD428
PACA-AU1919919251991926multiple base substitution (>=2bp and <=200bp)TCCTdownstream_gene_variant
PACA-AU1919919251991926multiple base substitution (>=2bp and <=200bp)TCCTintron_variant
PACA-AU1919919251991926multiple base substitution (>=2bp and <=200bp)TCCTmissense_variantE123R367GA>AG
PACA-AU1919919251991926multiple base substitution (>=2bp and <=200bp)TCCTupstream_gene_variant
PACA-AU1919972681997268single base substitutionCTdownstream_gene_variant
PACA-AU1919972681997268single base substitutionCTintron_variant
PACA-AU1919974971997497single base substitutionGAintron_variant
PACA-AU1919974971997497single base substitutionGAupstream_gene_variant
PACA-AU1920031502003150single base substitutionGAintron_variant
PACA-AU1920033022003302single base substitutionCAintron_variant
PACA-AU1920112772011277single base substitutionACintron_variant
PACA-AU1920114732011473single base substitutionCAintron_variant
PACA-AU1920114742011474single base substitutionAGintron_variant
PACA-AU1920127382012738single base substitutionACintron_variant
PACA-AU1920131532013153single base substitutionCTintron_variant
PACA-AU1920166762016676single base substitutionCTintron_variant
PACA-AU1920166762016676single base substitutionCTupstream_gene_variant
PACA-AU1920271542027154single base substitutionCTintron_variant
PACA-AU1920274072027407single base substitutionCTintron_variant
PACA-AU1920280392028039single base substitutionCTintron_variant
PACA-AU1920309762030976single base substitutionCTintron_variant
PACA-AU1920328532032853single base substitutionGTintron_variant
PACA-AU1920378422037842single base substitutionACupstream_gene_variant
PACA-AU1920382212038221single base substitutionGTupstream_gene_variant
PACA-CA1919806381980638single base substitutionCTdownstream_gene_variant
PACA-CA1919864081986408deletion of <=200bpG-3_prime_UTR_variant
PACA-CA1919864081986408deletion of <=200bpG-downstream_gene_variant
PACA-CA1919864081986408deletion of <=200bpG-exon_variant
PACA-CA1919925151992515single base substitutionATdownstream_gene_variant
PACA-CA1919925151992515single base substitutionATintron_variant
PACA-CA1919925151992515single base substitutionATupstream_gene_variant
PACA-CA1919984361998436single base substitutionGAintron_variant
PACA-CA1919984361998436single base substitutionGAupstream_gene_variant
PACA-CA1920030952003095single base substitutionCTintron_variant
PACA-CA1920038392003839single base substitutionAGintron_variant
PACA-CA1920092202009220single base substitutionCTintron_variant
PACA-CA1920100062010006single base substitutionCGintron_variant
PACA-CA1920179762017976single base substitutionCTintron_variant
PACA-CA1920179762017976single base substitutionCTupstream_gene_variant
PACA-CA1920200862020086single base substitutionCTintron_variant
PACA-CA1920200862020086single base substitutionCTupstream_gene_variant
PACA-CA1920265592026559single base substitutionGTintron_variant
PACA-CA1920283622028362single base substitutionGAintron_variant
PACA-CA1920287562028756single base substitutionGCexon_variant
PACA-CA1920287562028756single base substitutionGCintron_variant
PACA-CA1920319132031913single base substitutionGTintron_variant
PACA-CA1920321072032107single base substitutionACintron_variant
PACA-CA1920343792034379single base substitutionGAintron_variant
PACA-CA1920353312035331single base substitutionTCupstream_gene_variant
PACA-CA1920358952035895single base substitutionCTupstream_gene_variant
PACA-CA1920378422037842single base substitutionACupstream_gene_variant
PACA-CA1920392722039272single base substitutionGAupstream_gene_variant
PACA-CA1920396252039625single base substitutionCTupstream_gene_variant
PAEN-AU1919857411985741single base substitutionTG3_prime_UTR_variant
PAEN-AU1919857411985741single base substitutionTGdownstream_gene_variant
PAEN-AU1919857411985741single base substitutionTGexon_variant
PAEN-AU1919995801999580single base substitutionGAintron_variant
PAEN-AU1919995801999580single base substitutionGAupstream_gene_variant
PAEN-AU1920132212013221single base substitutionACintron_variant
PAEN-AU1920145632014563single base substitutionTGintron_variant
PAEN-IT1920232732023273single base substitutionGTintron_variant
PBCA-DE1919832631983263single base substitutionCTdownstream_gene_variant
PBCA-DE1919881471988147single base substitutionCTdownstream_gene_variant
PBCA-DE1919881471988147single base substitutionCTexon_variant
PBCA-DE1919881471988147single base substitutionCTintron_variant
PBCA-DE1919940681994068insertion of <=200bp-CAdownstream_gene_variant
PBCA-DE1919940681994068insertion of <=200bp-CAintron_variant
PBCA-DE1919940681994068insertion of <=200bp-CAupstream_gene_variant
PBCA-DE1919957881995788single base substitutionAGdownstream_gene_variant
PBCA-DE1919957881995788single base substitutionAGintron_variant
PBCA-DE1919957881995788single base substitutionAGupstream_gene_variant
PBCA-DE1920010802001080single base substitutionCTintron_variant
PBCA-DE1920010802001080single base substitutionCTupstream_gene_variant
PBCA-DE1920048152004815deletion of <=200bpA-intron_variant
PBCA-DE1920168262016826single base substitutionCGintron_variant
PBCA-DE1920168262016826single base substitutionCGupstream_gene_variant
PBCA-DE1920180762018076deletion of <=200bpC-intron_variant
PBCA-DE1920180762018076deletion of <=200bpC-upstream_gene_variant
PBCA-DE1920217352021735single base substitutionGAintron_variant
PBCA-DE1920274962027497deletion of <=200bpAG-intron_variant
PBCA-DE1920314742031475deletion of <=200bpCA-intron_variant
PBCA-DE1920320652032065single base substitutionTAintron_variant
PBCA-DE1920364702036470single base substitutionGTupstream_gene_variant
PBCA-DE1920371462037147deletion of <=200bpCA-upstream_gene_variant
PBCA-DE1920378422037842single base substitutionACupstream_gene_variant
PRAD-CA1919919261991926single base substitutionCTdownstream_gene_variant
PRAD-CA1919919261991926single base substitutionCTintron_variant
PRAD-CA1919919261991926single base substitutionCTmissense_variantE123K367G>A
PRAD-CA1919919261991926single base substitutionCTupstream_gene_variant
PRAD-CA1919932571993257single base substitutionGAdownstream_gene_variant
PRAD-CA1919932571993257single base substitutionGAintron_variant
PRAD-CA1919932571993257single base substitutionGAupstream_gene_variant
PRAD-CA1919964891996489single base substitutionGTdownstream_gene_variant
PRAD-CA1919964891996489single base substitutionGTintron_variant
PRAD-CA1919964911996491single base substitutionTCdownstream_gene_variant
PRAD-CA1919964911996491single base substitutionTCintron_variant
PRAD-CA1920114122011412single base substitutionAGintron_variant
PRAD-CA1920170382017038single base substitutionTCintron_variant
PRAD-CA1920170382017038single base substitutionTCsplice_region_variant
PRAD-CA1920170382017038single base substitutionTCupstream_gene_variant
PRAD-CA1920224562022456single base substitutionTCintron_variant
PRAD-CA1920339652033965single base substitutionCTintron_variant
PRAD-UK1919843181984318single base substitutionCTdownstream_gene_variant
PRAD-UK1919879001987900single base substitutionCTdownstream_gene_variant
PRAD-UK1919879001987900single base substitutionCTexon_variant
PRAD-UK1919879001987900single base substitutionCTintron_variant
PRAD-UK1920123002012300single base substitutionCTintron_variant
PRAD-UK1920191272019127single base substitutionGAintron_variant
PRAD-UK1920191272019127single base substitutionGAupstream_gene_variant
PRAD-UK1920199272019927single base substitutionCAintron_variant
PRAD-UK1920199272019927single base substitutionCAupstream_gene_variant
PRAD-UK1920240952024095single base substitutionGTintron_variant
PRAD-UK1920251362025136single base substitutionACintron_variant
PRAD-UK1920262002026200single base substitutionCTintron_variant
PRAD-UK1920311762031176single base substitutionGTintron_variant
PRAD-US1919869281986928single base substitutionGAdownstream_gene_variant
PRAD-US1919869281986928single base substitutionGAexon_variant
PRAD-US1919869281986928single base substitutionGAsynonymous_variantG439G1317C>T
READ-US1919876871987687single base substitutionGAdownstream_gene_variant
READ-US1919876871987687single base substitutionGAexon_variant
READ-US1919876871987687single base substitutionGAsynonymous_variantP242P726C>T
READ-US1919876871987687single base substitutionGAsynonymous_variantP331P993C>T
RECA-EU1919883591988359single base substitutionCTdownstream_gene_variant
RECA-EU1919883591988359single base substitutionCTexon_variant
RECA-EU1919883591988359single base substitutionCTintron_variant
RECA-EU1920028932002893single base substitutionAGintron_variant
RECA-EU1920040292004029single base substitutionTCintron_variant
RECA-EU1920065052006505single base substitutionCAintron_variant
RECA-EU1920245672024567single base substitutionGAintron_variant
SKCA-BR1919804971980497single base substitutionACdownstream_gene_variant
SKCA-BR1919830011983001single base substitutionTGdownstream_gene_variant
SKCA-BR1919846191984619single base substitutionACdownstream_gene_variant
SKCA-BR1919898121989812single base substitutionAGdownstream_gene_variant
SKCA-BR1919898121989812single base substitutionAGexon_variant
SKCA-BR1919898121989812single base substitutionAGintron_variant
SKCA-BR1919898121989812single base substitutionAGupstream_gene_variant
SKCA-BR1919899211989921single base substitutionGAdownstream_gene_variant
SKCA-BR1919899211989921single base substitutionGAexon_variant
SKCA-BR1919899211989921single base substitutionGAintron_variant
SKCA-BR1919899211989921single base substitutionGAupstream_gene_variant
SKCA-BR1919899361989936single base substitutionGAdownstream_gene_variant
SKCA-BR1919899361989936single base substitutionGAexon_variant
SKCA-BR1919899361989936single base substitutionGAintron_variant
SKCA-BR1919899361989936single base substitutionGAupstream_gene_variant
SKCA-BR1919906541990654single base substitutionTCdownstream_gene_variant
SKCA-BR1919906541990654single base substitutionTCintron_variant
SKCA-BR1919906541990654single base substitutionTCupstream_gene_variant
SKCA-BR1919951461995146single base substitutionTCdownstream_gene_variant
SKCA-BR1919951461995146single base substitutionTCintron_variant
SKCA-BR1919951461995146single base substitutionTCupstream_gene_variant
SKCA-BR1919956391995639insertion of <=200bp-ATdownstream_gene_variant
SKCA-BR1919956391995639insertion of <=200bp-ATintron_variant
SKCA-BR1919956391995639insertion of <=200bp-ATupstream_gene_variant
SKCA-BR1919982281998228single base substitutionGTintron_variant
SKCA-BR1919982281998228single base substitutionGTupstream_gene_variant
SKCA-BR1919988141998814single base substitutionGAintron_variant
SKCA-BR1919988141998814single base substitutionGAupstream_gene_variant
SKCA-BR1919993611999361single base substitutionTGintron_variant
SKCA-BR1919993611999361single base substitutionTGupstream_gene_variant
SKCA-BR1920007802000780single base substitutionGAintron_variant
SKCA-BR1920007802000780single base substitutionGAupstream_gene_variant
SKCA-BR1920023722002372single base substitutionGAintron_variant
SKCA-BR1920023722002372single base substitutionGAupstream_gene_variant
SKCA-BR1920057802005781deletion of <=200bpCA-intron_variant
SKCA-BR1920065572006557single base substitutionGAintron_variant
SKCA-BR1920069912006991single base substitutionGAintron_variant
SKCA-BR1920077062007706single base substitutionTCintron_variant
SKCA-BR1920084562008456single base substitutionCAintron_variant
SKCA-BR1920085882008588insertion of <=200bp-CTintron_variant
SKCA-BR1920123822012382single base substitutionCTintron_variant
SKCA-BR1920152832015283single base substitutionTGintron_variant
SKCA-BR1920168752016875single base substitutionGAintron_variant
SKCA-BR1920168752016875single base substitutionGAupstream_gene_variant
SKCA-BR1920178152017816deletion of <=200bpTA-intron_variant
SKCA-BR1920178152017816deletion of <=200bpTA-upstream_gene_variant
SKCA-BR1920179582017958single base substitutionGAintron_variant
SKCA-BR1920179582017958single base substitutionGAupstream_gene_variant
SKCA-BR1920186952018695single base substitutionCTintron_variant
SKCA-BR1920186952018695single base substitutionCTupstream_gene_variant
SKCA-BR1920191592019159single base substitutionGAintron_variant
SKCA-BR1920191592019159single base substitutionGAupstream_gene_variant
SKCA-BR1920196472019647insertion of <=200bp-TTTGCintron_variant
SKCA-BR1920196472019647insertion of <=200bp-TTTGCupstream_gene_variant
SKCA-BR1920208662020866single base substitutionGAintron_variant
SKCA-BR1920228402022840single base substitutionCTintron_variant
SKCA-BR1920228562022856single base substitutionCTintron_variant
SKCA-BR1920248622024862single base substitutionAGintron_variant
SKCA-BR1920258202025820single base substitutionCTintron_variant
SKCA-BR1920261052026105insertion of <=200bp-CTintron_variant
SKCA-BR1920307922030792single base substitutionACintron_variant
SKCA-BR1920323102032310single base substitutionCTintron_variant
SKCA-BR1920342102034210single base substitutionTGintron_variant
SKCA-BR1920349912034991single base substitutionCTupstream_gene_variant
SKCA-BR1920359452035945single base substitutionCTupstream_gene_variant
SKCA-BR1920392732039273single base substitutionGAupstream_gene_variant
SKCA-BR1920394272039427single base substitutionGAupstream_gene_variant
SKCM-US1919868991986899single base substitutionACdownstream_gene_variant
SKCM-US1919868991986899single base substitutionACexon_variant
SKCM-US1919868991986899single base substitutionACmissense_variantF449C1346T>G
SKCM-US1919973931997393single base substitutionCT3_prime_UTR_variant
SKCM-US1919973931997393single base substitutionCTexon_variant
SKCM-US1919973931997393single base substitutionCTsynonymous_variantT10T30G>A
SKCM-US1919973931997393single base substitutionCTsynonymous_variantT159T477G>A
STAD-US1919865081986508deletion of <=200bpG-downstream_gene_variant
STAD-US1919865081986508deletion of <=200bpG-exon_variant
STAD-US1919865081986508deletion of <=200bpG-frameshift_variantP519
STAD-US1919901291990129single base substitutionGA3_prime_UTR_variant
STAD-US1919901291990129single base substitutionGAdownstream_gene_variant
STAD-US1919901291990129single base substitutionGAexon_variant
STAD-US1919901291990129single base substitutionGAmissense_variantR199C595C>T
STAD-US1919901291990129single base substitutionGAmissense_variantR288C862C>T
STAD-US1919901291990129single base substitutionGAupstream_gene_variant
STAD-US1919931141993114single base substitutionCA3_prime_UTR_variant
STAD-US1919931141993114single base substitutionCAdownstream_gene_variant
STAD-US1919931141993114single base substitutionCAexon_variant
STAD-US1919931141993114single base substitutionCAmissense_variantA197S589G>T
STAD-US1919931141993114single base substitutionCAmissense_variantA48S142G>T
STAD-US1919931141993114single base substitutionCAupstream_gene_variant
STAD-US1919931301993130single base substitutionCT3_prime_UTR_variant
STAD-US1919931301993130single base substitutionCTdownstream_gene_variant
STAD-US1919931301993130single base substitutionCTexon_variant
STAD-US1919931301993130single base substitutionCTmissense_variantM191I573G>A
STAD-US1919931301993130single base substitutionCTmissense_variantM42I126G>A
STAD-US1919931301993130single base substitutionCTupstream_gene_variant
STAD-US1920397372039737single base substitutionCTupstream_gene_variant
THCA-US1919872431987243single base substitutionGAdownstream_gene_variant
THCA-US1919872431987243single base substitutionGAexon_variant
THCA-US1919872431987243single base substitutionGAsynonymous_variantV308V924C>T
THCA-US1919872431987243single base substitutionGAsynonymous_variantV397V1191C>T
UCEC-US1919865531986553single base substitutionCTdownstream_gene_variant
UCEC-US1919865531986553single base substitutionCTexon_variant
UCEC-US1919865531986553single base substitutionCTsynonymous_variantA504A1512G>A
UCEC-US1919872521987252single base substitutionCTdownstream_gene_variant
UCEC-US1919872521987252single base substitutionCTexon_variant
UCEC-US1919872521987252single base substitutionCTsplice_region_variant
UCEC-US1919875541987554single base substitutionGAdownstream_gene_variant
UCEC-US1919875541987554single base substitutionGAexon_variant
UCEC-US1919875541987554single base substitutionGAmissense_variantR287C859C>T
UCEC-US1919875541987554single base substitutionGAmissense_variantR376C1126C>T
UCEC-US1919907521990752single base substitutionCT3_prime_UTR_variant
UCEC-US1919907521990752single base substitutionCTdownstream_gene_variant
UCEC-US1919907521990752single base substitutionCTexon_variant
UCEC-US1919907521990752single base substitutionCTmissense_variantA163T487G>A
UCEC-US1919907521990752single base substitutionCTmissense_variantA252T754G>A
UCEC-US1919907521990752single base substitutionCTupstream_gene_variant
UCEC-US1919907531990753single base substitutionGA3_prime_UTR_variant
UCEC-US1919907531990753single base substitutionGAdownstream_gene_variant
UCEC-US1919907531990753single base substitutionGAexon_variant
UCEC-US1919907531990753single base substitutionGAsynonymous_variantD162D486C>T
UCEC-US1919907531990753single base substitutionGAsynonymous_variantD251D753C>T
UCEC-US1919907531990753single base substitutionGAupstream_gene_variant
UCEC-US1919908181990818single base substitutionGA3_prime_UTR_variant
UCEC-US1919908181990818single base substitutionGAdownstream_gene_variant
UCEC-US1919908181990818single base substitutionGAexon_variant
UCEC-US1919908181990818single base substitutionGAstop_gainedR141*421C>T
UCEC-US1919908181990818single base substitutionGAstop_gainedR230*688C>T
UCEC-US1919908181990818single base substitutionGAupstream_gene_variant
UCEC-US1919974271997427single base substitutionGA3_prime_UTR_variant
UCEC-US1919974271997427single base substitutionGAexon_variant
UCEC-US1919974271997427single base substitutionGAmissense_variantA148V443C>T
UCEC-US1919974271997427single base substitutionGAupstream_gene_variant
UCEC-US1920377572037757single base substitutionGAupstream_gene_variant
Mutation - COSMIC
Sample NameMutation IDMutation CDSMutation AAMutation DescriptionMutation Genome PositionMutation Strand
1960034COSM1644257c.1067G>Ap.R356QSubstitution - Missense19:1987614-1987614-
PT46COSM5929852c.1348C>Tp.R450CSubstitution - Missense19:1986898-1986898-
CHC2127TCOSM4952891c.686C>Ap.A229ESubstitution - Missense19:1990821-1990821-
MOLT-4COSM1680480c.946C>Ap.L316ISubstitution - Missense19:1990046-1990046-
Pat_30_ACOSM5855169c.751G>Ap.D251NSubstitution - Missense19:1990756-1990756-
TCGA-AP-A0LM-01COSM993437c.688C>Tp.R230*Substitution - Nonsense19:1990819-1990819-
T3306COSM4666338c.1117A>Tp.S373CSubstitution - Missense19:1987564-1987564-
2492700COSM5715406c.1088C>Tp.P363LSubstitution - Missense19:1987593-1987593-
TCGA-A6-6781-01COSM1391816c.1127G>Ap.R376HSubstitution - Missense19:1987554-1987554-
TCGA-EI-6882-01COSM3422569c.993C>Tp.P331PSubstitution - coding silent19:1987688-1987688-
TCGA-EP-A26S-01COSM4913576c.445A>Gp.M149VSubstitution - Missense19:1997426-1997426-
I2L-P19Ta-Tumor-OrganoidCOSM5364950c.1513G>Ap.A505TSubstitution - Missense19:1986553-1986553-
TCGA-DU-A5TY-01COSM3970859c.1141G>Ap.E381KSubstitution - Missense19:1987540-1987540-
2492703COSM5715406c.1088C>Tp.P363LSubstitution - Missense19:1987593-1987593-
C008COSM5522209c.966G>Ap.M322ISubstitution - Missense19:1990026-1990026-
YUPATCOSM1711586c.973G>Ap.E325KSubstitution - Missense19:1990019-1990019-
TCGA-P4-A5ED-01COSM3989857c.1287C>Tp.S429SSubstitution - coding silent19:1986959-1986959-
CHC2127TCOSM4952891c.686C>Ap.A229ESubstitution - Missense19:1990821-1990821-
T2458COSM4666337c.1478C>Tp.T493MSubstitution - Missense19:1986588-1986588-
TCGA-BR-8363-01COSM4076038c.862C>Tp.R288CSubstitution - Missense19:1990130-1990130-
BD236TCOSM5519569c.575C>Tp.T192ISubstitution - Missense19:1993129-1993129-
ESO-1145COSM1246294c.1308C>Tp.N436NSubstitution - coding silent19:1986938-1986938-
TCGA-D1-A15X-01COSM993436c.753C>Tp.D251DSubstitution - coding silent19:1990754-1990754-
RKOCOSM4648237c.1040T>Cp.L347PSubstitution - Missense19:1987641-1987641-
NB-0462COSM1283691c.1109delAp.K370fs*51Deletion - Frameshift19:1987572-1987572-
ESCC-038TCOSM3937955c.1369G>Ap.V457MSubstitution - Missense19:1986877-1986877-
TCGA-AP-A0LD-01COSM993426c.1206C>Tp.F402FSubstitution - coding silent19:1987229-1987229-
TCGA-B5-A11E-01COSM993435c.754G>Ap.A252TSubstitution - Missense19:1990753-1990753-
TCGA-AM-5821-01COSM3756528c.507T>Cp.A169ASubstitution - coding silent19:1997364-1997364-
12TCOSM108542c.1077C>Tp.F359FSubstitution - coding silent19:1987604-1987604-
HCC080TCOSM5810532c.1339A>Tp.S447CSubstitution - Missense19:1986907-1986907-
ESO-536COSM1246296c.1410G>Ap.T470TSubstitution - coding silent19:1986836-1986836-
TCGA-CZ-4854-01COSM3101829c.1563C>Tp.V521VSubstitution - coding silent19:1986503-1986503-
587284COSM993435c.754G>Ap.A252TSubstitution - Missense19:1990753-1990753-
sysucc-1317TCOSM4076038c.862C>Tp.R288CSubstitution - Missense19:1990130-1990130-
TCGA-13-1506-01COSM73868c.454G>Ap.G152RSubstitution - Missense19:1997417-1997417-
TCGA-B5-A0JR-01COSM993424c.1429C>Tp.H477YSubstitution - Missense19:1986637-1986637-
ESO-159COSM1246295c.1031G>Tp.S344ISubstitution - Missense19:1987650-1987650-
TCGA-DK-A3IU-01COSM3796852c.552G>Cp.Q184HSubstitution - Missense19:1993152-1993152-
QC2-34-T2COSM5654994c.785A>Tp.D262VSubstitution - Missense19:1990722-1990722-
TCGA-D9-A149-06COSM369164c.477G>Ap.T159TSubstitution - coding silent19:1997394-1997394-
C91COSM4444660c.1313C>Tp.T438MSubstitution - Missense19:1986933-1986933-
35MCOSM5580364c.510C>Tp.A170ASubstitution - coding silent19:1997361-1997361-
CRC-02TCOSM5454703c.1102C>Tp.R368CSubstitution - Missense19:1987579-1987579-
Pat_45_ACOSM5855170c.430G>Ap.A144TSubstitution - Missense19:1997441-1997441-
SJHGG034_DCOSM4970277c.1239C>Tp.H413HSubstitution - coding silent19:1987196-1987196-
T2225COSM4666341c.495C>Tp.D165DSubstitution - coding silent19:1997376-1997376-
201COSM3720995c.1447C>Tp.L483LSubstitution - coding silent19:1986619-1986619-
T31COSM3756528c.507T>Cp.A169ASubstitution - coding silent19:1997364-1997364-
GC8_TCOSM148453c.685-4C>Tp.?Unknown19:1990826-1990826-
TCGA-AP-A0LE-01COSM993427c.1182G>Ap.R394RSubstitution - coding silent19:1987253-1987253-
TCGA-G4-6628-01COSM1391817c.1044C>Ap.H348QSubstitution - Missense19:1987637-1987637-
SNUH_G16_S1COSM3756528c.507T>Cp.A169ASubstitution - coding silent19:1997364-1997364-
PD11752aCOSM5802393c.645_647delGAAp.K215delKDeletion - In frame19:1993057-1993059-
MO_1015COSM5558991c.674T>Ap.L225QSubstitution - Missense19:1993030-1993030-
TCGA-BS-A0UV-01COSM993428c.1126C>Tp.R376CSubstitution - Missense19:1987555-1987555-
SH-85592COSM5018110c.1207G>Tp.V403LSubstitution - Missense19:1987228-1987228-
TCGA-AP-A059-01COSM993423c.1512G>Ap.A504ASubstitution - coding silent19:1986554-1986554-
TCGA-BJ-A45J-01COSM3371232c.1191C>Tp.V397VSubstitution - coding silent19:1987244-1987244-
TCGA-D1-A0ZS-01COSM993438c.443C>Tp.A148VSubstitution - Missense19:1997428-1997428-
I2L-P19Ta-Tumor-BiopsyCOSM5364950c.1513G>Ap.A505TSubstitution - Missense19:1986553-1986553-
T3190COSM1246294c.1308C>Tp.N436NSubstitution - coding silent19:1986938-1986938-
ZZUFHECRKL-G060TCOSM3756528c.507T>Cp.A169ASubstitution - coding silent19:1997364-1997364-
sysucc-1370TCOSM3101836c.1416+4C>Tp.?Unknown19:1986826-1986826-
TCGA-BP-4967-01COSM474409c.570G>Ap.V190VSubstitution - coding silent19:1993134-1993134-
T578COSM4666340c.735C>Tp.I245ISubstitution - coding silent19:1990772-1990772-
TCGA-BQ-5877-01COSM3989856c.1368G>Cp.P456PSubstitution - coding silent19:1986878-1986878-
TCGA-D1-A177-01COSM993425c.1212G>Tp.V404VSubstitution - coding silent19:1987223-1987223-
TCGA-D3-A3MV-06COSM3531168c.1346T>Gp.F449CSubstitution - Missense19:1986900-1986900-
TCGA-G4-6317-01COSM1391816c.1127G>Ap.R376HSubstitution - Missense19:1987554-1987554-
PD4255aCOSM5774494c.1349G>Ap.R450HSubstitution - Missense19:1986897-1986897-
ACA34COSM5961651c.653G>Cp.R218PSubstitution - Missense19:1993051-1993051-
TCGA-CK-5916-01COSM3692555c.429C>Tp.S143SSubstitution - coding silent19:1997442-1997442-
TCGA-EJ-A46F-01COSM3783211c.1317C>Tp.G439GSubstitution - coding silent19:1986929-1986929-
LUAD-NYU1096COSM369164c.477G>Ap.T159TSubstitution - coding silent19:1997394-1997394-
MOLT-4COSM1680479c.1436G>Ap.G479DSubstitution - Missense19:1986630-1986630-
2492702COSM5715406c.1088C>Tp.P363LSubstitution - Missense19:1987593-1987593-
TCGA-HU-A4GX-01COSM4076045c.589G>Tp.A197SSubstitution - Missense19:1993115-1993115-
TCGA-CM-5861-01COSM1391818c.765G>Ap.A255ASubstitution - coding silent19:1990742-1990742-
TCGA-HU-A4GQ-01COSM4076038c.862C>Tp.R288CSubstitution - Missense19:1990130-1990130-
T3092COSM4666339c.1085G>Ap.R362QSubstitution - Missense19:1987596-1987596-
2492701COSM5715406c.1088C>Tp.P363LSubstitution - Missense19:1987593-1987593-
YUKATCOSM5389187c.1444G>Ap.G482SSubstitution - Missense19:1986622-1986622-
46MCOSM5587307c.527+1G>Tp.?Unknown19:1997343-1997343-
TCGA-BR-8487-01COSM4076046c.573G>Ap.M191ISubstitution - Missense19:1993131-1993131-
pfg068TCOSM4748611c.994G>Ap.A332TSubstitution - Missense19:1987687-1987687-
19COSM5747958c.467C>Tp.T156ISubstitution - Missense19:1997404-1997404-
GC_297_T-GC_297_NCOSM4772720c.1435G>Ap.G479SSubstitution - Missense19:1986631-1986631-
YUROCCOSM5389188c.1282G>Ap.D428NSubstitution - Missense19:1986964-1986964-
ESCC_29COSM5627493c.851A>Tp.N284ISubstitution - Missense19:1990141-1990141-
Mutation - CGAP
UNIGENECYTOBANDOMIMSNP
Hs.46554319p13.36085311517406|dbSNP|BC000564|C/T|non-coding||1807|Validated;
1517406|dbSNP|BC008035|C/T|non-coding||1801|Validated
Mutation - IntOGen
Mutated from(ref)Mutated to(alt)Consequence TypeAA MutationCDS MutationChrPosCancer
ACMissensep.F449Cc.1346T>G191986899CM
AGMissensep.L483Pc.1448T>C191986617STAD
CGMissensep.Q184Hc.552G>C191993151BLCA
CTMissensep.D475Nc.1423G>A191986642LUAD
CTMissensep.G152Rc.454G>A191997416OV
CTMissensep.G439Sc.1315G>A191986930CM
CTSynonymousp.E341Ec.1023G>A191987657CM
CTSynonymousp.K199Kc.597G>A191993106HNSC
CTSynonymousp.R394Rc.1182G>A191987252UCEC
CTSynonymousp.T193Tc.579G>A191993124STAD
CTSynonymousp.T470Tc.1410G>A191986835ESCA
CTSynonymousp.V190Vc.570G>A191993133RCCC
GAMissensep.A148Vc.443C>T191997427UCEC
GASynonymousp.G439Gc.1317C>T191986928PRAD
GASynonymousp.N436Nc.1308C>T191986937ESCA
GASynonymousp.V521Vc.1563C>T191986502RCCC
GCNonsensep.Y179*c.537C>G191993166HNSC
GTIntronicSNV.c.408-7099C>A192004561PIA
GTSynonymousp.P168Pc.504C>A191997366LUAD
T-Frameshiftp.K370Rfs*51c.1109delA191987571NB
-TG3-UTRInsertion.c.1575+129_1575+130insCA191986360ESCA