Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 15 59102553 59102553 + Missense_Mutation SNP T T C TCGA-OR-A5KU-01A-11D-A29I-10 TCGA-OR-A5KU-10A-01D-A29L-10 g.chr15:59102553T>C c.1088T>C c.(1087-1089)aTt>aCt p.I363T BLCA 15 59063836 59063836 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr15:59063836C>G c.242C>G c.(241-243)tCc>tGc p.S81C BLCA 15 59064257 59064257 + Missense_Mutation SNP G G C TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr15:59064257G>C c.663G>C c.(661-663)gaG>gaC p.E221D BLCA 15 59123984 59123984 + Missense_Mutation SNP G G C TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 g.chr15:59123984G>C c.1237G>C c.(1237-1239)Gag>Cag p.E413Q BLCA 15 59139599 59139599 + Missense_Mutation SNP C C T TCGA-CF-A27C-01A-11D-A16O-08 TCGA-CF-A27C-10A-01D-A16O-08 g.chr15:59139599C>T c.1472C>T c.(1471-1473)tCa>tTa p.S491L BLCA 15 59144044 59144044 + Silent SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr15:59144044A>G c.1617A>G c.(1615-1617)ggA>ggG p.G539G BLCA 15 59144134 59144134 + Silent SNP T T A TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr15:59144134T>A c.1707T>A c.(1705-1707)gcT>gcA p.A569A BLCA 15 59144162 59144162 + Nonsense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 g.chr15:59144162C>T c.1735C>T c.(1735-1737)Cag>Tag p.Q579* BLCA 15 59146724 59146724 + Missense_Mutation SNP C C G TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 g.chr15:59146724C>G c.1781C>G c.(1780-1782)tCt>tGt p.S594C BRCA 15 59064339 59064339 + Nonsense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr15:59064339C>T c.745C>T c.(745-747)Cag>Tag p.Q249* CESC 15 59064305 59064305 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr15:59064305C>T c.711C>T c.(709-711)ttC>ttT p.F237F CESC 15 59080149 59080149 + Silent SNP G G A TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 g.chr15:59080149G>A c.885G>A c.(883-885)ctG>ctA p.L295L COAD 15 59063767 59063767 + Missense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr15:59063767C>T c.173C>T c.(172-174)gCc>gTc p.A58V COAD 15 59064171 59064171 + Missense_Mutation SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr15:59064171A>G c.577A>G c.(577-579)Agt>Ggt p.S193G COADREAD 15 59063767 59063767 + Missense_Mutation SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr15:59063767C>T c.173C>T c.(172-174)gCc>gTc p.A58V COADREAD 15 59064158 59064158 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr15:59064158C>A c.564C>A c.(562-564)agC>agA p.S188R COADREAD 15 59064171 59064171 + Missense_Mutation SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr15:59064171A>G c.577A>G c.(577-579)Agt>Ggt p.S193G DLBC 15 59064214 59064214 + Missense_Mutation SNP G G A TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr15:59064214G>A c.620G>A c.(619-621)gGc>gAc p.G207D ESCA 15 59064332 59064332 + Missense_Mutation SNP G G T TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 g.chr15:59064332G>T c.738G>T c.(736-738)aaG>aaT p.K246N ESCA 15 59064348 59064348 + Nonsense_Mutation SNP G G T TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 g.chr15:59064348G>T c.754G>T c.(754-756)Gaa>Taa p.E252* GBMLGG 15 59102556 59102556 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr15:59102556C>A c.1091C>A c.(1090-1092)cCt>cAt p.P364H HNSC 15 59064131 59064131 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 g.chr15:59064131C>T c.537C>T c.(535-537)ttC>ttT p.F179F HNSC 15 59102491 59102491 + Missense_Mutation SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr15:59102491A>T c.1026A>T c.(1024-1026)agA>agT p.R342S HNSC 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 g.chr15:59144132_59144134delGCT c.1705_1707delGCT c.(1705-1707)gctdel p.A574del HNSC 15 59146757 59146757 + Missense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 g.chr15:59146757G>C c.1814G>C c.(1813-1815)cGa>cCa p.R605P KIPAN 15 59139573 59139573 + Silent SNP A A T TCGA-MH-A55W-01A-11D-A26P-10 TCGA-MH-A55W-10A-01D-A26P-10 g.chr15:59139573A>T c.1446A>T c.(1444-1446)gtA>gtT p.V482V KIPAN 15 59146745 59146745 + Missense_Mutation SNP G G A TCGA-CW-5585-01A-01D-1534-10 TCGA-CW-5585-11A-01D-1535-10 g.chr15:59146745G>A c.1802G>A c.(1801-1803)cGg>cAg p.R601Q KIRC 15 59146745 59146745 + Missense_Mutation SNP G G A TCGA-CW-5585-01A-01D-1534-10 TCGA-CW-5585-11A-01D-1535-10 g.chr15:59146745G>A c.1802G>A c.(1801-1803)cGg>cAg p.R601Q KIRP 15 59139573 59139573 + Silent SNP A A T TCGA-MH-A55W-01A-11D-A26P-10 TCGA-MH-A55W-10A-01D-A26P-10 g.chr15:59139573A>T c.1446A>T c.(1444-1446)gtA>gtT p.V482V LGG 15 59102556 59102556 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr15:59102556C>A c.1091C>A c.(1090-1092)cCt>cAt p.P364H LUAD 15 59064338 59064338 + Silent SNP C C T TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr15:59064338C>T c.744C>T c.(742-744)atC>atT p.I248I LUAD 15 59064389 59064389 + Silent SNP C C T TCGA-05-5715-01A-01D-1625-08 TCGA-05-5715-10A-01D-1625-08 g.chr15:59064389C>T c.795C>T c.(793-795)ccC>ccT p.P265P LUAD 15 59102480 59102480 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr15:59102480G>A c.1015G>A c.(1015-1017)Gta>Ata p.V339I LUAD 15 59102531 59102531 + Missense_Mutation SNP A A G TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr15:59102531A>G c.1066A>G c.(1066-1068)Ata>Gta p.I356V LUAD 15 59124055 59124055 + Missense_Mutation SNP G G T TCGA-83-5908-01A-21D-2284-08 TCGA-83-5908-10A-01D-2284-08 g.chr15:59124055G>T c.1308G>T c.(1306-1308)caG>caT p.Q436H LUAD 15 59139570 59139570 + Silent SNP C C T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr15:59139570C>T c.1443C>T c.(1441-1443)aaC>aaT p.N481N LUAD 15 59144100 59144100 + Missense_Mutation SNP C C G TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 g.chr15:59144100C>G c.1673C>G c.(1672-1674)tCt>tGt p.S558C LUSC 15 59063709 59063709 + Missense_Mutation SNP G G C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 g.chr15:59063709G>C c.115G>C c.(115-117)Gat>Cat p.D39H PAAD 15 59064120 59064120 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr15:59064120C>A c.526C>A c.(526-528)Ctg>Atg p.L176M PAAD 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr15:59144132_59144134delGCT c.1705_1707delGCT c.(1705-1707)gctdel p.A574del PAAD 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-2L-AAQI-01A-12D-A397-08 TCGA-2L-AAQI-11A-11D-A39A-08 g.chr15:59144132_59144134delGCT c.1705_1707delGCT c.(1705-1707)gctdel p.A574del PAAD 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 g.chr15:59144132_59144134delGCT c.1705_1707delGCT c.(1705-1707)gctdel p.A574del PAAD 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 g.chr15:59144132_59144134delGCT c.1705_1707delGCT c.(1705-1707)gctdel p.A574del PAAD 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 g.chr15:59144132_59144134delGCT c.1705_1707delGCT c.(1705-1707)gctdel p.A574del PAAD 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-IB-A6UG-01A-32D-A33T-08 TCGA-IB-A6UG-10A-01D-A33W-08 g.chr15:59144132_59144134delGCT c.1705_1707delGCT c.(1705-1707)gctdel p.A574del PAAD 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 g.chr15:59144132_59144134delGCT c.1705_1707delGCT c.(1705-1707)gctdel p.A574del PAAD 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-LB-A9Q5-01A-11D-A397-08 TCGA-LB-A9Q5-10A-01D-A39A-08 g.chr15:59144132_59144134delGCT c.1705_1707delGCT c.(1705-1707)gctdel p.A574del PAAD 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-XN-A8T3-01A-11D-A36O-08 TCGA-XN-A8T3-10A-01D-A367-08 g.chr15:59144132_59144134delGCT c.1705_1707delGCT c.(1705-1707)gctdel p.A574del PAAD 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-YB-A89D-01A-12D-A36O-08 TCGA-YB-A89D-10A-01D-A367-08 g.chr15:59144132_59144134delGCT c.1705_1707delGCT c.(1705-1707)gctdel p.A574del PRAD 15 59064095 59064095 + Silent SNP T T G TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 g.chr15:59064095T>G c.501T>G c.(499-501)ccT>ccG p.P167P PRAD 15 59146739 59146739 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr15:59146739G>A c.1796G>A c.(1795-1797)cGt>cAt p.R599H READ 15 59064158 59064158 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr15:59064158C>A c.564C>A c.(562-564)agC>agA p.S188R SKCM 15 59063690 59063690 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr15:59063690G>A c.96G>A c.(94-96)gaG>gaA p.E32E SKCM 15 59064076 59064076 + Missense_Mutation SNP G G C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 g.chr15:59064076G>C c.482G>C c.(481-483)tGc>tCc p.C161S SKCM 15 59139614 59139614 + Missense_Mutation SNP G G A TCGA-D3-A2JP-06A-11D-A19A-08 TCGA-D3-A2JP-10A-01D-A19A-08 g.chr15:59139614G>A c.1487G>A c.(1486-1488)cGa>cAa p.R496Q

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 15 59139502 59139502 single base substitution C T 3_prime_UTR_variant AML-US 15 59139502 59139502 single base substitution C T exon_variant AML-US 15 59139502 59139502 single base substitution C T synonymous_variant L459L 1375C>T BLCA-US 15 59123984 59123984 single base substitution G C exon_variant BLCA-US 15 59123984 59123984 single base substitution G C intron_variant BLCA-US 15 59123984 59123984 single base substitution G C missense_variant E143Q 427G>C BLCA-US 15 59123984 59123984 single base substitution G C missense_variant E413Q 1237G>C BLCA-US 15 59139599 59139599 single base substitution C T 3_prime_UTR_variant BLCA-US 15 59139599 59139599 single base substitution C T missense_variant S491L 1472C>T BLCA-US 15 59146724 59146724 single base substitution C G 3_prime_UTR_variant BLCA-US 15 59146724 59146724 single base substitution C G missense_variant S593C 1778C>G BLCA-US 15 59146724 59146724 single base substitution C G missense_variant S594C 1781C>G BOCA-FR 15 59139179 59139179 single base substitution T G intron_variant BRCA-EU 15 59061124 59061124 single base substitution C T upstream_gene_variant BRCA-EU 15 59061466 59061466 deletion of <=200bp A - upstream_gene_variant BRCA-EU 15 59064131 59064131 single base substitution C G exon_variant BRCA-EU 15 59064131 59064131 single base substitution C G missense_variant F179L 537C>G BRCA-EU 15 59064145 59064145 single base substitution C G exon_variant BRCA-EU 15 59064145 59064145 single base substitution C G missense_variant S184C 551C>G BRCA-EU 15 59064553 59064553 single base substitution A G intron_variant BRCA-EU 15 59066824 59066824 single base substitution T C intron_variant BRCA-EU 15 59067105 59067112 deletion of <=200bp ATTTGGAG - intron_variant BRCA-EU 15 59067818 59067818 single base substitution G T intron_variant BRCA-EU 15 59068059 59068059 single base substitution T A intron_variant BRCA-EU 15 59068214 59068214 single base substitution C A intron_variant BRCA-EU 15 59068325 59068325 single base substitution T C intron_variant BRCA-EU 15 59068632 59068632 single base substitution G A intron_variant BRCA-EU 15 59068928 59068929 deletion of <=200bp AT - intron_variant BRCA-EU 15 59070878 59070878 single base substitution T A intron_variant BRCA-EU 15 59072498 59072498 single base substitution G T intron_variant BRCA-EU 15 59072693 59072693 single base substitution C T intron_variant BRCA-EU 15 59072802 59072802 single base substitution G C intron_variant BRCA-EU 15 59073371 59073371 single base substitution C G intron_variant BRCA-EU 15 59074151 59074151 single base substitution T C intron_variant BRCA-EU 15 59074391 59074391 single base substitution C G intron_variant BRCA-EU 15 59076181 59076181 insertion of <=200bp - C intron_variant BRCA-EU 15 59077738 59077738 insertion of <=200bp - A intron_variant BRCA-EU 15 59080346 59080346 single base substitution T A intron_variant BRCA-EU 15 59082032 59082032 single base substitution G C intron_variant BRCA-EU 15 59084066 59084066 single base substitution G T intron_variant BRCA-EU 15 59084066 59084066 single base substitution G T upstream_gene_variant BRCA-EU 15 59084811 59084811 deletion of <=200bp A - intron_variant BRCA-EU 15 59084811 59084811 deletion of <=200bp A - upstream_gene_variant BRCA-EU 15 59084811 59084811 insertion of <=200bp - A intron_variant BRCA-EU 15 59084811 59084811 insertion of <=200bp - A upstream_gene_variant BRCA-EU 15 59087997 59087997 single base substitution C A intron_variant BRCA-EU 15 59087997 59087997 single base substitution C A upstream_gene_variant BRCA-EU 15 59089208 59089208 single base substitution C T intron_variant BRCA-EU 15 59090245 59090245 single base substitution C G intron_variant BRCA-EU 15 59092057 59092057 single base substitution G C intron_variant BRCA-EU 15 59092064 59092064 single base substitution G C intron_variant BRCA-EU 15 59093135 59093135 single base substitution G A intron_variant BRCA-EU 15 59093705 59093705 single base substitution A T intron_variant BRCA-EU 15 59093819 59093819 single base substitution T C intron_variant BRCA-EU 15 59095623 59095623 single base substitution C T intron_variant BRCA-EU 15 59095680 59095680 single base substitution A G intron_variant BRCA-EU 15 59096014 59096014 single base substitution C T intron_variant BRCA-EU 15 59096563 59096563 deletion of <=200bp C - intron_variant BRCA-EU 15 59097773 59097774 deletion of <=200bp AA - intron_variant BRCA-EU 15 59097836 59097836 single base substitution G A intron_variant BRCA-EU 15 59098125 59098125 single base substitution T A intron_variant BRCA-EU 15 59100463 59100463 single base substitution T C intron_variant BRCA-EU 15 59100822 59100822 single base substitution G C intron_variant BRCA-EU 15 59101398 59101398 single base substitution G A intron_variant BRCA-EU 15 59102810 59102810 single base substitution G A intron_variant BRCA-EU 15 59104604 59104604 single base substitution C G intron_variant BRCA-EU 15 59108107 59108107 single base substitution G C intron_variant BRCA-EU 15 59108520 59108520 single base substitution G A intron_variant BRCA-EU 15 59109187 59109187 single base substitution A T intron_variant BRCA-EU 15 59109583 59109583 single base substitution G C intron_variant BRCA-EU 15 59109727 59109727 single base substitution C T intron_variant BRCA-EU 15 59111204 59111204 single base substitution G A intron_variant BRCA-EU 15 59111877 59111877 single base substitution G C intron_variant BRCA-EU 15 59111904 59111904 single base substitution G A intron_variant BRCA-EU 15 59111904 59111912 deletion of <=200bp GACTTACTG - intron_variant BRCA-EU 15 59113772 59113772 single base substitution G C intron_variant BRCA-EU 15 59115291 59115291 single base substitution A G intron_variant BRCA-EU 15 59116057 59116057 deletion of <=200bp A - intron_variant BRCA-EU 15 59120268 59120268 single base substitution C T intron_variant BRCA-EU 15 59121655 59121655 single base substitution G A intron_variant BRCA-EU 15 59121867 59121867 single base substitution G A intron_variant BRCA-EU 15 59124834 59124834 single base substitution C G downstream_gene_variant BRCA-EU 15 59124834 59124834 single base substitution C G intron_variant BRCA-EU 15 59124868 59124868 single base substitution A C downstream_gene_variant BRCA-EU 15 59124868 59124868 single base substitution A C intron_variant BRCA-EU 15 59125315 59125315 single base substitution G C downstream_gene_variant BRCA-EU 15 59125315 59125315 single base substitution G C intron_variant BRCA-EU 15 59127762 59127762 single base substitution G C downstream_gene_variant BRCA-EU 15 59127762 59127762 single base substitution G C intron_variant BRCA-EU 15 59128405 59128405 single base substitution G A downstream_gene_variant BRCA-EU 15 59128405 59128405 single base substitution G A intron_variant BRCA-EU 15 59128591 59128591 single base substitution G T downstream_gene_variant BRCA-EU 15 59128591 59128591 single base substitution G T intron_variant BRCA-EU 15 59128992 59128992 single base substitution T A downstream_gene_variant BRCA-EU 15 59128992 59128992 single base substitution T A intron_variant BRCA-EU 15 59129142 59129142 single base substitution C T intron_variant BRCA-EU 15 59129411 59129411 single base substitution G T intron_variant BRCA-EU 15 59129714 59129714 single base substitution G A intron_variant BRCA-EU 15 59131378 59131378 single base substitution T G intron_variant BRCA-EU 15 59131834 59131834 single base substitution G T intron_variant BRCA-EU 15 59132725 59132725 single base substitution A G intron_variant BRCA-EU 15 59135258 59135258 single base substitution A C intron_variant BRCA-EU 15 59138550 59138550 single base substitution T C intron_variant BRCA-EU 15 59144111 59144111 single base substitution C G 3_prime_UTR_variant BRCA-EU 15 59144111 59144111 single base substitution C G missense_variant Q562E 1684C>G BRCA-EU 15 59144252 59144252 single base substitution G A intron_variant BRCA-EU 15 59145029 59145029 single base substitution T G intron_variant BRCA-EU 15 59146048 59146048 single base substitution T A intron_variant BRCA-EU 15 59147930 59147930 single base substitution G A 3_prime_UTR_variant BRCA-EU 15 59147930 59147930 single base substitution G A downstream_gene_variant BRCA-EU 15 59148034 59148034 single base substitution G T 3_prime_UTR_variant BRCA-EU 15 59148034 59148034 single base substitution G T downstream_gene_variant BRCA-EU 15 59148459 59148459 single base substitution G C 3_prime_UTR_variant BRCA-EU 15 59148459 59148459 single base substitution G C downstream_gene_variant BRCA-EU 15 59151192 59151192 single base substitution C A 3_prime_UTR_variant BRCA-EU 15 59151192 59151192 single base substitution C A downstream_gene_variant BRCA-EU 15 59151288 59151288 single base substitution T G 3_prime_UTR_variant BRCA-EU 15 59151288 59151288 single base substitution T G downstream_gene_variant BRCA-EU 15 59152427 59152427 single base substitution G C 3_prime_UTR_variant BRCA-EU 15 59152427 59152427 single base substitution G C downstream_gene_variant BRCA-EU 15 59153393 59153393 single base substitution G T 3_prime_UTR_variant BRCA-EU 15 59153393 59153393 single base substitution G T downstream_gene_variant BRCA-EU 15 59153418 59153418 single base substitution G A 3_prime_UTR_variant BRCA-EU 15 59153418 59153418 single base substitution G A downstream_gene_variant BRCA-EU 15 59154492 59154492 single base substitution G T downstream_gene_variant BRCA-EU 15 59154710 59154710 single base substitution G C downstream_gene_variant BRCA-EU 15 59154900 59154900 single base substitution G A downstream_gene_variant BRCA-EU 15 59155346 59155346 single base substitution G A downstream_gene_variant BRCA-EU 15 59157884 59157884 single base substitution C A downstream_gene_variant BRCA-EU 15 59158355 59158355 single base substitution T C downstream_gene_variant BRCA-FR 15 59061124 59061124 single base substitution C T upstream_gene_variant BRCA-FR 15 59064131 59064131 single base substitution C G exon_variant BRCA-FR 15 59064131 59064131 single base substitution C G missense_variant F179L 537C>G BRCA-FR 15 59084066 59084066 single base substitution G T intron_variant BRCA-FR 15 59084066 59084066 single base substitution G T upstream_gene_variant BRCA-FR 15 59087997 59087997 single base substitution C A intron_variant BRCA-FR 15 59087997 59087997 single base substitution C A upstream_gene_variant BRCA-FR 15 59097836 59097836 single base substitution G A intron_variant BRCA-FR 15 59103803 59103803 single base substitution G C intron_variant BRCA-FR 15 59120268 59120268 single base substitution C T intron_variant BRCA-FR 15 59121655 59121655 single base substitution G A intron_variant BRCA-FR 15 59140580 59140580 single base substitution G C intron_variant BRCA-UK 15 59100877 59100877 single base substitution C T intron_variant BRCA-UK 15 59131834 59131834 single base substitution G T intron_variant BRCA-UK 15 59132725 59132725 single base substitution A G intron_variant BRCA-US 15 59064339 59064339 single base substitution C T exon_variant BRCA-US 15 59064339 59064339 single base substitution C T stop_gained Q249* 745C>T BTCA-JP 15 59080068 59080068 single base substitution A G intron_variant BTCA-JP 15 59102510 59102510 single base substitution T C exon_variant BTCA-JP 15 59102510 59102510 single base substitution T C intron_variant BTCA-JP 15 59102510 59102510 single base substitution T C missense_variant F349L 1045T>C BTCA-JP 15 59102510 59102510 single base substitution T C missense_variant F79L 235T>C CESC-US 15 59064305 59064305 single base substitution C T exon_variant CESC-US 15 59064305 59064305 single base substitution C T synonymous_variant F237F 711C>T CESC-US 15 59080149 59080149 single base substitution G A exon_variant CESC-US 15 59080149 59080149 single base substitution G A synonymous_variant L295L 885G>A CLLE-ES 15 59106269 59106269 single base substitution T G intron_variant CLLE-ES 15 59122080 59122080 single base substitution G A intron_variant COAD-US 15 59063742 59063742 single base substitution G A exon_variant COAD-US 15 59063742 59063742 single base substitution G A missense_variant G50S 148G>A COAD-US 15 59064171 59064171 single base substitution A G exon_variant COAD-US 15 59064171 59064171 single base substitution A G missense_variant S193G 577A>G ESAD-UK 15 59059765 59059765 deletion of <=200bp T - upstream_gene_variant ESAD-UK 15 59062781 59062781 single base substitution C A upstream_gene_variant ESAD-UK 15 59063660 59063660 single base substitution G A exon_variant ESAD-UK 15 59063660 59063660 single base substitution G A synonymous_variant G22G 66G>A ESAD-UK 15 59063672 59063672 single base substitution G A exon_variant ESAD-UK 15 59063672 59063672 single base substitution G A synonymous_variant S26S 78G>A ESAD-UK 15 59065302 59065302 single base substitution A G intron_variant ESAD-UK 15 59065453 59065453 single base substitution C T intron_variant ESAD-UK 15 59067670 59067670 single base substitution G A intron_variant ESAD-UK 15 59067735 59067735 single base substitution C T intron_variant ESAD-UK 15 59073385 59073385 single base substitution A G intron_variant ESAD-UK 15 59081009 59081009 single base substitution G A intron_variant ESAD-UK 15 59082253 59082253 single base substitution C A intron_variant ESAD-UK 15 59085703 59085703 single base substitution A T intron_variant ESAD-UK 15 59085703 59085703 single base substitution A T upstream_gene_variant ESAD-UK 15 59087627 59087627 single base substitution C T intron_variant ESAD-UK 15 59087627 59087627 single base substitution C T upstream_gene_variant ESAD-UK 15 59087666 59087666 single base substitution G A intron_variant ESAD-UK 15 59087666 59087666 single base substitution G A upstream_gene_variant ESAD-UK 15 59094304 59094304 single base substitution C A intron_variant ESAD-UK 15 59097275 59097275 single base substitution G A intron_variant ESAD-UK 15 59101375 59101375 single base substitution C A intron_variant ESAD-UK 15 59102231 59102231 single base substitution G T intron_variant ESAD-UK 15 59108902 59108902 single base substitution A C intron_variant ESAD-UK 15 59111068 59111068 single base substitution G A intron_variant ESAD-UK 15 59111536 59111536 single base substitution A C intron_variant ESAD-UK 15 59113407 59113407 single base substitution A G intron_variant ESAD-UK 15 59115573 59115573 single base substitution T C intron_variant ESAD-UK 15 59118362 59118362 single base substitution T A intron_variant ESAD-UK 15 59119743 59119743 single base substitution A C intron_variant ESAD-UK 15 59120842 59120842 single base substitution G A intron_variant ESAD-UK 15 59129787 59129787 single base substitution T A intron_variant ESAD-UK 15 59134653 59134653 insertion of <=200bp - T intron_variant ESAD-UK 15 59135332 59135332 single base substitution G C intron_variant ESAD-UK 15 59139764 59139764 single base substitution C T intron_variant ESAD-UK 15 59146149 59146149 single base substitution T C intron_variant ESAD-UK 15 59147274 59147274 single base substitution A G 3_prime_UTR_variant ESAD-UK 15 59147274 59147274 single base substitution A G downstream_gene_variant ESAD-UK 15 59151557 59151557 single base substitution C A 3_prime_UTR_variant ESAD-UK 15 59151557 59151557 single base substitution C A downstream_gene_variant ESAD-UK 15 59151708 59151708 single base substitution C G 3_prime_UTR_variant ESAD-UK 15 59151708 59151708 single base substitution C G downstream_gene_variant ESAD-UK 15 59153369 59153369 single base substitution G A 3_prime_UTR_variant ESAD-UK 15 59153369 59153369 single base substitution G A downstream_gene_variant ESAD-UK 15 59155596 59155596 single base substitution G A downstream_gene_variant ESAD-UK 15 59156973 59156973 single base substitution C A downstream_gene_variant ESCA-CN 15 59102466 59102466 single base substitution A T exon_variant ESCA-CN 15 59102466 59102466 single base substitution A T missense_variant Q334L 1001A>T ESCA-CN 15 59102466 59102466 single base substitution A T missense_variant Q64L 191A>T KIRC-US 15 59146745 59146745 single base substitution G A 3_prime_UTR_variant KIRC-US 15 59146745 59146745 single base substitution G A missense_variant R600Q 1799G>A KIRC-US 15 59146745 59146745 single base substitution G A missense_variant R601Q 1802G>A KIRC-US 15 59153166 59153166 insertion of <=200bp - A 3_prime_UTR_variant KIRC-US 15 59153166 59153166 insertion of <=200bp - A downstream_gene_variant KIRP-US 15 59139573 59139573 single base substitution A T 3_prime_UTR_variant KIRP-US 15 59139573 59139573 single base substitution A T synonymous_variant V482V 1446A>T LAML-KR 15 59077351 59077351 single base substitution A G intron_variant LAML-KR 15 59083861 59083861 single base substitution A G intron_variant LAML-KR 15 59083861 59083861 single base substitution A G upstream_gene_variant LAML-KR 15 59139518 59139518 single base substitution C T 3_prime_UTR_variant LAML-KR 15 59139518 59139518 single base substitution C T exon_variant LAML-KR 15 59139518 59139518 single base substitution C T missense_variant T464M 1391C>T LICA-FR 15 59078302 59078302 single base substitution A G intron_variant LICA-FR 15 59083822 59083822 insertion of <=200bp - TGTG intron_variant LICA-FR 15 59083822 59083822 insertion of <=200bp - TGTG upstream_gene_variant LICA-FR 15 59099537 59099537 single base substitution G A intron_variant LICA-FR 15 59112580 59112580 single base substitution T C intron_variant LICA-FR 15 59114015 59114015 single base substitution G T exon_variant LICA-FR 15 59114015 59114015 single base substitution G T stop_gained E138* 412G>T LICA-FR 15 59114015 59114015 single base substitution G T stop_gained E408* 1222G>T LICA-FR 15 59132828 59132828 insertion of <=200bp - TTA intron_variant LICA-FR 15 59152205 59152205 single base substitution C T 3_prime_UTR_variant LICA-FR 15 59152205 59152205 single base substitution C T downstream_gene_variant LINC-JP 15 59079338 59079338 single base substitution A T intron_variant LINC-JP 15 59079339 59079339 single base substitution C T intron_variant LINC-JP 15 59088790 59088790 single base substitution C G intron_variant LINC-JP 15 59092863 59092863 deletion of <=200bp T - intron_variant LINC-JP 15 59117819 59117819 single base substitution A T intron_variant LINC-JP 15 59118983 59118983 single base substitution A G intron_variant LINC-JP 15 59131592 59131592 single base substitution A G intron_variant LINC-JP 15 59138307 59138307 single base substitution G A intron_variant LINC-JP 15 59139097 59139097 single base substitution A G intron_variant LINC-JP 15 59144006 59144006 single base substitution C T 3_prime_UTR_variant LINC-JP 15 59144006 59144006 single base substitution C T stop_gained Q527* 1579C>T LINC-JP 15 59156269 59156269 single base substitution A T downstream_gene_variant LIRI-JP 15 59062497 59062497 single base substitution T G upstream_gene_variant LIRI-JP 15 59063373 59063373 single base substitution G T upstream_gene_variant LIRI-JP 15 59068674 59068674 single base substitution T C intron_variant LIRI-JP 15 59069307 59069307 single base substitution A G intron_variant LIRI-JP 15 59069340 59069340 single base substitution T C intron_variant LIRI-JP 15 59069343 59069343 single base substitution C T intron_variant LIRI-JP 15 59074590 59074590 single base substitution A C intron_variant LIRI-JP 15 59076993 59076993 single base substitution T G intron_variant LIRI-JP 15 59077258 59077258 single base substitution A G intron_variant LIRI-JP 15 59079288 59079288 single base substitution C T intron_variant LIRI-JP 15 59079803 59079803 single base substitution G T intron_variant LIRI-JP 15 59088760 59088760 single base substitution G T intron_variant LIRI-JP 15 59090971 59090971 single base substitution C A intron_variant LIRI-JP 15 59091532 59091532 single base substitution C T intron_variant LIRI-JP 15 59092903 59092903 single base substitution C T intron_variant LIRI-JP 15 59093198 59093198 single base substitution A G intron_variant LIRI-JP 15 59095057 59095057 single base substitution G A intron_variant LIRI-JP 15 59096475 59096475 single base substitution C T intron_variant LIRI-JP 15 59096628 59096628 single base substitution A G intron_variant LIRI-JP 15 59099886 59099886 single base substitution A T intron_variant LIRI-JP 15 59105375 59105375 single base substitution G A intron_variant LIRI-JP 15 59105745 59105745 single base substitution A G intron_variant LIRI-JP 15 59109778 59109778 single base substitution C T intron_variant LIRI-JP 15 59109993 59109993 single base substitution T C intron_variant LIRI-JP 15 59110133 59110133 single base substitution C T intron_variant LIRI-JP 15 59111559 59111559 single base substitution A G intron_variant LIRI-JP 15 59115220 59115220 single base substitution G T intron_variant LIRI-JP 15 59117182 59117182 single base substitution A G intron_variant LIRI-JP 15 59118387 59118387 single base substitution A T intron_variant LIRI-JP 15 59122259 59122259 single base substitution T A intron_variant LIRI-JP 15 59123329 59123329 single base substitution A G intron_variant LIRI-JP 15 59125190 59125190 single base substitution G A downstream_gene_variant LIRI-JP 15 59125190 59125190 single base substitution G A intron_variant LIRI-JP 15 59125349 59125349 single base substitution T C downstream_gene_variant LIRI-JP 15 59125349 59125349 single base substitution T C intron_variant LIRI-JP 15 59125569 59125569 single base substitution G T downstream_gene_variant LIRI-JP 15 59125569 59125569 single base substitution G T intron_variant LIRI-JP 15 59126807 59126807 single base substitution C T downstream_gene_variant LIRI-JP 15 59126807 59126807 single base substitution C T intron_variant LIRI-JP 15 59128776 59128776 single base substitution C G downstream_gene_variant LIRI-JP 15 59128776 59128776 single base substitution C G intron_variant LIRI-JP 15 59129930 59129930 single base substitution A G intron_variant LIRI-JP 15 59133402 59133402 single base substitution G C intron_variant LIRI-JP 15 59134271 59134271 single base substitution T G intron_variant LIRI-JP 15 59138482 59138482 single base substitution A G intron_variant LIRI-JP 15 59138524 59138524 single base substitution G A intron_variant LIRI-JP 15 59142163 59142163 single base substitution T A intron_variant LIRI-JP 15 59144549 59144549 single base substitution A G intron_variant LIRI-JP 15 59146784 59146784 deletion of <=200bp A - 3_prime_UTR_variant LIRI-JP 15 59146784 59146784 deletion of <=200bp A - frameshift_variant E613 LIRI-JP 15 59146784 59146784 deletion of <=200bp A - frameshift_variant E614 LIRI-JP 15 59147166 59147166 single base substitution A G 3_prime_UTR_variant LIRI-JP 15 59147166 59147166 single base substitution A G downstream_gene_variant LIRI-JP 15 59148200 59148200 single base substitution A G 3_prime_UTR_variant LIRI-JP 15 59148200 59148200 single base substitution A G downstream_gene_variant LIRI-JP 15 59148285 59148285 single base substitution A G 3_prime_UTR_variant LIRI-JP 15 59148285 59148285 single base substitution A G downstream_gene_variant LIRI-JP 15 59148954 59148954 single base substitution A G 3_prime_UTR_variant LIRI-JP 15 59148954 59148954 single base substitution A G downstream_gene_variant LIRI-JP 15 59151448 59151448 single base substitution A G 3_prime_UTR_variant LIRI-JP 15 59151448 59151448 single base substitution A G downstream_gene_variant LIRI-JP 15 59155154 59155154 single base substitution T C downstream_gene_variant LIRI-JP 15 59157009 59157009 single base substitution G C downstream_gene_variant LIRI-JP 15 59157010 59157010 single base substitution G T downstream_gene_variant LIRI-JP 15 59158646 59158646 single base substitution G A downstream_gene_variant LUSC-KR 15 59073842 59073842 single base substitution G T intron_variant LUSC-KR 15 59074003 59074003 single base substitution G A intron_variant LUSC-KR 15 59077351 59077351 single base substitution A G intron_variant LUSC-KR 15 59077674 59077674 single base substitution C G intron_variant LUSC-KR 15 59083861 59083861 single base substitution A G intron_variant LUSC-KR 15 59083861 59083861 single base substitution A G upstream_gene_variant LUSC-KR 15 59090764 59090764 single base substitution C T intron_variant LUSC-KR 15 59096816 59096816 single base substitution G A intron_variant LUSC-KR 15 59096817 59096817 single base substitution C A intron_variant LUSC-KR 15 59099924 59099924 single base substitution A T intron_variant LUSC-KR 15 59105761 59105761 single base substitution A T intron_variant LUSC-KR 15 59106322 59106322 single base substitution A G intron_variant LUSC-KR 15 59107912 59107912 single base substitution C T intron_variant LUSC-KR 15 59112451 59112451 single base substitution G T intron_variant LUSC-KR 15 59114163 59114163 single base substitution C T intron_variant LUSC-KR 15 59118446 59118446 single base substitution G T intron_variant LUSC-KR 15 59120426 59120426 single base substitution T A intron_variant LUSC-KR 15 59124344 59124344 single base substitution G T downstream_gene_variant LUSC-KR 15 59124344 59124344 single base substitution G T intron_variant LUSC-KR 15 59130612 59130612 single base substitution G C intron_variant LUSC-KR 15 59132221 59132221 single base substitution C T intron_variant LUSC-KR 15 59133470 59133470 single base substitution C A intron_variant LUSC-KR 15 59135113 59135113 single base substitution G A intron_variant LUSC-KR 15 59145135 59145135 single base substitution T G intron_variant LUSC-KR 15 59145150 59145150 single base substitution T G intron_variant LUSC-KR 15 59149373 59149373 single base substitution G A 3_prime_UTR_variant LUSC-KR 15 59149373 59149373 single base substitution G A downstream_gene_variant LUSC-KR 15 59150147 59150147 single base substitution C T 3_prime_UTR_variant LUSC-KR 15 59150147 59150147 single base substitution C T downstream_gene_variant LUSC-KR 15 59150355 59150355 single base substitution G A 3_prime_UTR_variant LUSC-KR 15 59150355 59150355 single base substitution G A downstream_gene_variant LUSC-KR 15 59158183 59158183 single base substitution G T downstream_gene_variant LUSC-US 15 59063709 59063709 single base substitution G C exon_variant LUSC-US 15 59063709 59063709 single base substitution G C missense_variant D39H 115G>C MALY-DE 15 59065409 59065409 single base substitution G A intron_variant MALY-DE 15 59067177 59067190 deletion of <=200bp CAGTCATAAGTAAT - intron_variant MALY-DE 15 59068155 59068155 single base substitution G A intron_variant MALY-DE 15 59070201 59070201 single base substitution G A intron_variant MALY-DE 15 59071262 59071262 deletion of <=200bp T - intron_variant MALY-DE 15 59077376 59077376 single base substitution A G intron_variant MALY-DE 15 59083415 59083432 deletion of <=200bp TATATATATATATATATA - intron_variant MALY-DE 15 59083415 59083432 deletion of <=200bp TATATATATATATATATA - upstream_gene_variant MALY-DE 15 59084904 59084904 single base substitution A G intron_variant MALY-DE 15 59084904 59084904 single base substitution A G upstream_gene_variant MALY-DE 15 59089534 59089534 single base substitution T A intron_variant MALY-DE 15 59091091 59091091 single base substitution A C intron_variant MALY-DE 15 59092678 59092678 single base substitution T G intron_variant MALY-DE 15 59092823 59092823 single base substitution C T intron_variant MALY-DE 15 59093653 59093653 single base substitution C A intron_variant MALY-DE 15 59095680 59095680 single base substitution A G intron_variant MALY-DE 15 59127421 59127421 single base substitution T G downstream_gene_variant MALY-DE 15 59127421 59127421 single base substitution T G intron_variant MALY-DE 15 59135346 59135346 single base substitution G T intron_variant MELA-AU 15 59058943 59058943 single base substitution G A upstream_gene_variant MELA-AU 15 59059026 59059026 single base substitution G A upstream_gene_variant MELA-AU 15 59059262 59059262 single base substitution A C upstream_gene_variant MELA-AU 15 59059502 59059502 single base substitution A G upstream_gene_variant MELA-AU 15 59059589 59059589 single base substitution A T upstream_gene_variant MELA-AU 15 59059769 59059769 single base substitution A G upstream_gene_variant MELA-AU 15 59060174 59060174 single base substitution T C upstream_gene_variant MELA-AU 15 59060842 59060842 single base substitution G A upstream_gene_variant MELA-AU 15 59061477 59061477 single base substitution G A upstream_gene_variant MELA-AU 15 59061507 59061507 single base substitution C T upstream_gene_variant MELA-AU 15 59062542 59062542 single base substitution G A upstream_gene_variant MELA-AU 15 59062975 59062975 single base substitution C T upstream_gene_variant MELA-AU 15 59063186 59063186 single base substitution G A upstream_gene_variant MELA-AU 15 59063201 59063201 single base substitution T G upstream_gene_variant MELA-AU 15 59063241 59063241 single base substitution G A upstream_gene_variant MELA-AU 15 59063302 59063303 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 15 59064891 59064891 single base substitution G A intron_variant MELA-AU 15 59065890 59065890 single base substitution T G intron_variant MELA-AU 15 59065986 59065986 single base substitution C T intron_variant MELA-AU 15 59066677 59066677 single base substitution C T intron_variant MELA-AU 15 59067383 59067383 single base substitution C G intron_variant MELA-AU 15 59069996 59069996 single base substitution T G intron_variant MELA-AU 15 59071607 59071607 single base substitution C T intron_variant MELA-AU 15 59071792 59071792 single base substitution C T intron_variant MELA-AU 15 59072485 59072485 single base substitution C T intron_variant MELA-AU 15 59073337 59073337 single base substitution C T intron_variant MELA-AU 15 59073562 59073562 single base substitution C T intron_variant MELA-AU 15 59074049 59074049 single base substitution C T intron_variant MELA-AU 15 59074235 59074235 single base substitution A G intron_variant MELA-AU 15 59075343 59075343 single base substitution C T intron_variant MELA-AU 15 59075372 59075373 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 15 59075668 59075668 single base substitution C T intron_variant MELA-AU 15 59076490 59076490 single base substitution G A intron_variant MELA-AU 15 59076644 59076644 single base substitution T C intron_variant MELA-AU 15 59078067 59078067 single base substitution C T intron_variant MELA-AU 15 59078093 59078093 single base substitution G A intron_variant MELA-AU 15 59078604 59078604 single base substitution T C intron_variant MELA-AU 15 59078938 59078938 single base substitution C T intron_variant MELA-AU 15 59079442 59079442 single base substitution C T intron_variant MELA-AU 15 59079762 59079762 single base substitution C T intron_variant MELA-AU 15 59082216 59082216 single base substitution G A intron_variant MELA-AU 15 59082466 59082466 single base substitution C T intron_variant MELA-AU 15 59082901 59082901 single base substitution T G intron_variant MELA-AU 15 59083271 59083271 single base substitution C T intron_variant MELA-AU 15 59083616 59083616 single base substitution C G intron_variant MELA-AU 15 59083616 59083616 single base substitution C G upstream_gene_variant MELA-AU 15 59084169 59084169 single base substitution C T intron_variant MELA-AU 15 59084169 59084169 single base substitution C T upstream_gene_variant MELA-AU 15 59084177 59084177 single base substitution C T intron_variant MELA-AU 15 59084177 59084177 single base substitution C T upstream_gene_variant MELA-AU 15 59087007 59087007 single base substitution T C intron_variant MELA-AU 15 59087007 59087007 single base substitution T C upstream_gene_variant MELA-AU 15 59087169 59087169 single base substitution G A intron_variant MELA-AU 15 59087169 59087169 single base substitution G A upstream_gene_variant MELA-AU 15 59088317 59088317 single base substitution G A intron_variant MELA-AU 15 59088317 59088317 single base substitution G A missense_variant G14R 40G>A MELA-AU 15 59088902 59088902 single base substitution C T intron_variant MELA-AU 15 59088919 59088919 single base substitution C T intron_variant MELA-AU 15 59088925 59088925 single base substitution T C intron_variant MELA-AU 15 59089208 59089208 single base substitution C T intron_variant MELA-AU 15 59089802 59089802 single base substitution C T intron_variant MELA-AU 15 59092302 59092302 single base substitution C T intron_variant MELA-AU 15 59092593 59092593 single base substitution A G intron_variant MELA-AU 15 59092940 59092941 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 15 59092992 59092992 single base substitution C T intron_variant MELA-AU 15 59093076 59093076 single base substitution G A intron_variant MELA-AU 15 59093513 59093513 single base substitution G A intron_variant MELA-AU 15 59094828 59094828 single base substitution C T intron_variant MELA-AU 15 59095054 59095054 single base substitution C T intron_variant MELA-AU 15 59095841 59095841 single base substitution C T intron_variant MELA-AU 15 59096713 59096713 single base substitution C T intron_variant MELA-AU 15 59097239 59097239 single base substitution G A intron_variant MELA-AU 15 59097767 59097767 single base substitution C T intron_variant MELA-AU 15 59097772 59097772 single base substitution G C intron_variant MELA-AU 15 59098268 59098279 deletion of <=200bp GTCTCAAAAAAA - intron_variant MELA-AU 15 59098862 59098862 single base substitution C A intron_variant MELA-AU 15 59099450 59099450 single base substitution A T intron_variant MELA-AU 15 59099456 59099456 single base substitution T C intron_variant MELA-AU 15 59099653 59099653 single base substitution T C intron_variant MELA-AU 15 59099679 59099679 single base substitution C T intron_variant MELA-AU 15 59099817 59099817 single base substitution C A intron_variant MELA-AU 15 59099948 59099948 single base substitution G A intron_variant MELA-AU 15 59100228 59100228 single base substitution C T intron_variant MELA-AU 15 59100931 59100931 single base substitution G A intron_variant MELA-AU 15 59101213 59101213 single base substitution C T intron_variant MELA-AU 15 59101827 59101827 single base substitution C T intron_variant MELA-AU 15 59103044 59103044 single base substitution C T intron_variant MELA-AU 15 59103822 59103822 single base substitution G C intron_variant MELA-AU 15 59104173 59104173 single base substitution A C intron_variant MELA-AU 15 59104217 59104217 single base substitution G A intron_variant MELA-AU 15 59105167 59105167 single base substitution C T intron_variant MELA-AU 15 59105410 59105410 single base substitution C T intron_variant MELA-AU 15 59106261 59106261 single base substitution C T intron_variant MELA-AU 15 59106527 59106527 single base substitution C T intron_variant MELA-AU 15 59106933 59106933 single base substitution T C intron_variant MELA-AU 15 59106964 59106964 single base substitution T C intron_variant MELA-AU 15 59107437 59107437 single base substitution A G intron_variant MELA-AU 15 59108075 59108075 single base substitution C T intron_variant MELA-AU 15 59109232 59109232 single base substitution C T intron_variant MELA-AU 15 59109374 59109374 single base substitution G A intron_variant MELA-AU 15 59111120 59111120 single base substitution A T intron_variant MELA-AU 15 59111268 59111268 single base substitution C T intron_variant MELA-AU 15 59112580 59112580 single base substitution T C intron_variant MELA-AU 15 59112691 59112691 single base substitution C T intron_variant MELA-AU 15 59113270 59113270 single base substitution T C intron_variant MELA-AU 15 59113722 59113722 single base substitution C T intron_variant MELA-AU 15 59114027 59114027 single base substitution G A intron_variant MELA-AU 15 59114027 59114027 single base substitution G A splice_region_variant MELA-AU 15 59114316 59114316 single base substitution G A intron_variant MELA-AU 15 59114382 59114382 single base substitution G A intron_variant MELA-AU 15 59115019 59115019 single base substitution C T intron_variant MELA-AU 15 59115431 59115431 single base substitution G A intron_variant MELA-AU 15 59115726 59115727 multiple base substitution (>=2bp and <=200bp) AT TC intron_variant MELA-AU 15 59116424 59116424 single base substitution C T intron_variant MELA-AU 15 59116455 59116455 single base substitution C T intron_variant MELA-AU 15 59118176 59118176 single base substitution C T intron_variant MELA-AU 15 59118207 59118207 single base substitution A G intron_variant MELA-AU 15 59118981 59118981 single base substitution T A intron_variant MELA-AU 15 59119765 59119765 single base substitution C T intron_variant MELA-AU 15 59119908 59119908 single base substitution C T intron_variant MELA-AU 15 59120364 59120364 single base substitution A T intron_variant MELA-AU 15 59120438 59120438 single base substitution C T intron_variant MELA-AU 15 59121878 59121878 single base substitution C A intron_variant MELA-AU 15 59122614 59122614 single base substitution C T intron_variant MELA-AU 15 59123244 59123244 single base substitution A G intron_variant MELA-AU 15 59124011 59124011 single base substitution C T 3_prime_UTR_variant MELA-AU 15 59124011 59124011 single base substitution C T intron_variant MELA-AU 15 59124011 59124011 single base substitution C T stop_gained Q152* 454C>T MELA-AU 15 59124011 59124011 single base substitution C T stop_gained Q422* 1264C>T MELA-AU 15 59124281 59124281 single base substitution T C downstream_gene_variant MELA-AU 15 59124281 59124281 single base substitution T C intron_variant MELA-AU 15 59124307 59124307 single base substitution C T downstream_gene_variant MELA-AU 15 59124307 59124307 single base substitution C T intron_variant MELA-AU 15 59125530 59125530 single base substitution C G downstream_gene_variant MELA-AU 15 59125530 59125530 single base substitution C G intron_variant MELA-AU 15 59125927 59125927 single base substitution C T downstream_gene_variant MELA-AU 15 59125927 59125927 single base substitution C T intron_variant MELA-AU 15 59125997 59125997 single base substitution G A downstream_gene_variant MELA-AU 15 59125997 59125997 single base substitution G A intron_variant MELA-AU 15 59126111 59126111 single base substitution C T downstream_gene_variant MELA-AU 15 59126111 59126111 single base substitution C T intron_variant MELA-AU 15 59126513 59126513 single base substitution C T downstream_gene_variant MELA-AU 15 59126513 59126513 single base substitution C T intron_variant MELA-AU 15 59127168 59127168 single base substitution T C downstream_gene_variant MELA-AU 15 59127168 59127168 single base substitution T C intron_variant MELA-AU 15 59127868 59127868 single base substitution C T downstream_gene_variant MELA-AU 15 59127868 59127868 single base substitution C T intron_variant MELA-AU 15 59128474 59128474 single base substitution C T downstream_gene_variant MELA-AU 15 59128474 59128474 single base substitution C T intron_variant MELA-AU 15 59128823 59128823 single base substitution T C downstream_gene_variant MELA-AU 15 59128823 59128823 single base substitution T C intron_variant MELA-AU 15 59128908 59128909 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 15 59128908 59128909 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 59128909 59128909 single base substitution C T downstream_gene_variant MELA-AU 15 59128909 59128909 single base substitution C T intron_variant MELA-AU 15 59129249 59129249 single base substitution T A intron_variant MELA-AU 15 59129625 59129625 single base substitution T C intron_variant MELA-AU 15 59129815 59129815 single base substitution C T intron_variant MELA-AU 15 59130394 59130394 single base substitution C T intron_variant MELA-AU 15 59130535 59130535 single base substitution T C intron_variant MELA-AU 15 59133102 59133102 single base substitution C T intron_variant MELA-AU 15 59133543 59133543 single base substitution T A intron_variant MELA-AU 15 59134316 59134316 single base substitution C T intron_variant MELA-AU 15 59134873 59134873 single base substitution C T intron_variant MELA-AU 15 59135544 59135544 single base substitution T G intron_variant MELA-AU 15 59135677 59135677 single base substitution G C intron_variant MELA-AU 15 59135748 59135748 single base substitution C T intron_variant MELA-AU 15 59135932 59135932 single base substitution C T intron_variant MELA-AU 15 59136606 59136606 single base substitution C T intron_variant MELA-AU 15 59136864 59136864 single base substitution C T intron_variant MELA-AU 15 59136925 59136925 single base substitution G A intron_variant MELA-AU 15 59137588 59137588 single base substitution G A intron_variant MELA-AU 15 59139855 59139855 single base substitution C G intron_variant MELA-AU 15 59141697 59141697 single base substitution C T intron_variant MELA-AU 15 59142026 59142026 single base substitution C T intron_variant MELA-AU 15 59142552 59142552 single base substitution T C intron_variant MELA-AU 15 59142804 59142804 single base substitution T A intron_variant MELA-AU 15 59142921 59142921 single base substitution C T intron_variant MELA-AU 15 59143144 59143144 single base substitution C T intron_variant MELA-AU 15 59143946 59143946 single base substitution G A intron_variant MELA-AU 15 59144345 59144345 single base substitution C T intron_variant MELA-AU 15 59144647 59144647 single base substitution C T intron_variant MELA-AU 15 59144874 59144874 single base substitution C T intron_variant MELA-AU 15 59145746 59145746 deletion of <=200bp G - intron_variant MELA-AU 15 59147373 59147373 single base substitution G A 3_prime_UTR_variant MELA-AU 15 59147373 59147373 single base substitution G A downstream_gene_variant MELA-AU 15 59147923 59147923 single base substitution C T 3_prime_UTR_variant MELA-AU 15 59147923 59147923 single base substitution C T downstream_gene_variant MELA-AU 15 59149480 59149480 single base substitution C T 3_prime_UTR_variant MELA-AU 15 59149480 59149480 single base substitution C T downstream_gene_variant MELA-AU 15 59149567 59149567 single base substitution T C 3_prime_UTR_variant MELA-AU 15 59149567 59149567 single base substitution T C downstream_gene_variant MELA-AU 15 59149656 59149656 single base substitution C T 3_prime_UTR_variant MELA-AU 15 59149656 59149656 single base substitution C T downstream_gene_variant MELA-AU 15 59150126 59150126 single base substitution C T 3_prime_UTR_variant MELA-AU 15 59150126 59150126 single base substitution C T downstream_gene_variant MELA-AU 15 59150917 59150917 single base substitution T A 3_prime_UTR_variant MELA-AU 15 59150917 59150917 single base substitution T A downstream_gene_variant MELA-AU 15 59152192 59152192 single base substitution A G 3_prime_UTR_variant MELA-AU 15 59152192 59152192 single base substitution A G downstream_gene_variant MELA-AU 15 59152890 59152890 single base substitution A C 3_prime_UTR_variant MELA-AU 15 59152890 59152890 single base substitution A C downstream_gene_variant MELA-AU 15 59154035 59154035 single base substitution A G 3_prime_UTR_variant MELA-AU 15 59154035 59154035 single base substitution A G downstream_gene_variant MELA-AU 15 59154125 59154125 single base substitution C T downstream_gene_variant MELA-AU 15 59155259 59155259 single base substitution T G downstream_gene_variant MELA-AU 15 59155601 59155601 single base substitution G A downstream_gene_variant MELA-AU 15 59155820 59155820 single base substitution C T downstream_gene_variant MELA-AU 15 59156088 59156088 single base substitution T A downstream_gene_variant MELA-AU 15 59156378 59156378 single base substitution C T downstream_gene_variant MELA-AU 15 59157273 59157273 single base substitution C T downstream_gene_variant MELA-AU 15 59157550 59157550 single base substitution G A downstream_gene_variant MELA-AU 15 59157697 59157697 single base substitution G A downstream_gene_variant MELA-AU 15 59157930 59157930 single base substitution G A downstream_gene_variant MELA-AU 15 59158532 59158532 single base substitution C T downstream_gene_variant MELA-AU 15 59158993 59158993 single base substitution G A downstream_gene_variant MELA-AU 15 59159048 59159048 single base substitution G A downstream_gene_variant ORCA-IN 15 59063952 59063952 single base substitution G T exon_variant ORCA-IN 15 59063952 59063952 single base substitution G T missense_variant G120C 358G>T ORCA-IN 15 59070194 59070194 single base substitution T C intron_variant ORCA-IN 15 59074764 59074764 single base substitution A G intron_variant ORCA-IN 15 59089040 59089040 single base substitution A G intron_variant ORCA-IN 15 59134764 59134764 single base substitution G A intron_variant ORCA-IN 15 59148547 59148547 single base substitution C G 3_prime_UTR_variant ORCA-IN 15 59148547 59148547 single base substitution C G downstream_gene_variant OV-AU 15 59063240 59063240 single base substitution T A upstream_gene_variant OV-AU 15 59075342 59075342 single base substitution A C intron_variant OV-AU 15 59077040 59077040 single base substitution C G intron_variant OV-AU 15 59084935 59084935 single base substitution A G intron_variant OV-AU 15 59084935 59084935 single base substitution A G upstream_gene_variant OV-AU 15 59091069 59091069 single base substitution T C intron_variant OV-AU 15 59091556 59091556 single base substitution G A intron_variant OV-AU 15 59102534 59102534 single base substitution G C exon_variant OV-AU 15 59102534 59102534 single base substitution G C intron_variant OV-AU 15 59102534 59102534 single base substitution G C missense_variant V357L 1069G>C OV-AU 15 59102534 59102534 single base substitution G C missense_variant V87L 259G>C OV-AU 15 59107935 59107935 single base substitution C A intron_variant OV-AU 15 59118758 59118758 single base substitution G C intron_variant OV-AU 15 59119158 59119158 single base substitution T C intron_variant OV-AU 15 59120721 59120721 single base substitution A C intron_variant OV-AU 15 59121496 59121496 single base substitution A G intron_variant OV-AU 15 59123756 59123756 single base substitution T C intron_variant OV-AU 15 59125093 59125093 single base substitution T A downstream_gene_variant OV-AU 15 59125093 59125093 single base substitution T A intron_variant OV-AU 15 59137764 59137764 single base substitution T C intron_variant OV-AU 15 59140373 59140373 single base substitution G A intron_variant OV-AU 15 59140558 59140558 single base substitution A G intron_variant OV-AU 15 59157181 59157181 single base substitution A T downstream_gene_variant PACA-AU 15 59066408 59066408 single base substitution G A intron_variant PACA-AU 15 59074909 59074909 single base substitution A C intron_variant PACA-AU 15 59080641 59080641 single base substitution C T intron_variant PACA-AU 15 59082973 59082973 single base substitution G A intron_variant PACA-AU 15 59087976 59087976 single base substitution T C intron_variant PACA-AU 15 59087976 59087976 single base substitution T C upstream_gene_variant PACA-AU 15 59091562 59091562 single base substitution C T intron_variant PACA-AU 15 59105552 59105552 single base substitution G C intron_variant PACA-AU 15 59107862 59107862 deletion of <=200bp T - intron_variant PACA-AU 15 59108105 59108105 single base substitution T A intron_variant PACA-AU 15 59109900 59109900 single base substitution G T intron_variant PACA-AU 15 59118320 59118320 single base substitution A G intron_variant PACA-AU 15 59120105 59120105 single base substitution G T intron_variant PACA-AU 15 59120779 59120779 single base substitution T C intron_variant PACA-AU 15 59126871 59126871 single base substitution A C downstream_gene_variant PACA-AU 15 59126871 59126871 single base substitution A C intron_variant PACA-AU 15 59130541 59130541 single base substitution G A intron_variant PACA-AU 15 59132437 59132439 deletion of <=200bp CCG - intron_variant PACA-AU 15 59141113 59141113 single base substitution T C intron_variant PACA-AU 15 59141172 59141172 single base substitution G A intron_variant PACA-AU 15 59145136 59145136 single base substitution T G intron_variant PACA-AU 15 59152563 59152563 single base substitution A G 3_prime_UTR_variant PACA-AU 15 59152563 59152563 single base substitution A G downstream_gene_variant PACA-AU 15 59153657 59153657 single base substitution A G 3_prime_UTR_variant PACA-AU 15 59153657 59153657 single base substitution A G downstream_gene_variant PACA-AU 15 59156231 59156231 single base substitution C T downstream_gene_variant PACA-CA 15 59061451 59061451 single base substitution C T upstream_gene_variant PACA-CA 15 59061452 59061452 single base substitution T C upstream_gene_variant PACA-CA 15 59061604 59061604 single base substitution C T upstream_gene_variant PACA-CA 15 59062245 59062245 single base substitution A G upstream_gene_variant PACA-CA 15 59076073 59076073 single base substitution A G intron_variant PACA-CA 15 59077738 59077738 deletion of <=200bp A - intron_variant PACA-CA 15 59078776 59078776 single base substitution C T intron_variant PACA-CA 15 59079254 59079254 single base substitution C T intron_variant PACA-CA 15 59084811 59084811 deletion of <=200bp A - intron_variant PACA-CA 15 59084811 59084811 deletion of <=200bp A - upstream_gene_variant PACA-CA 15 59095385 59095385 single base substitution G C intron_variant PACA-CA 15 59100794 59100794 single base substitution G T intron_variant PACA-CA 15 59102647 59102647 single base substitution A G intron_variant PACA-CA 15 59103874 59103874 single base substitution T C intron_variant PACA-CA 15 59108059 59108059 single base substitution A C intron_variant PACA-CA 15 59111229 59111236 deletion of <=200bp GTGTAGTA - intron_variant PACA-CA 15 59115980 59115980 single base substitution G T intron_variant PACA-CA 15 59118650 59118650 single base substitution A G intron_variant PACA-CA 15 59121464 59121464 single base substitution G A intron_variant PACA-CA 15 59122751 59122751 single base substitution T A intron_variant PACA-CA 15 59123240 59123240 single base substitution G A intron_variant PACA-CA 15 59131286 59131286 single base substitution T C intron_variant PACA-CA 15 59136819 59136819 single base substitution A T intron_variant PACA-CA 15 59146784 59146784 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 15 59146784 59146784 deletion of <=200bp A - frameshift_variant E613 PACA-CA 15 59146784 59146784 deletion of <=200bp A - frameshift_variant E614 PACA-CA 15 59146840 59146840 single base substitution A G 3_prime_UTR_variant PACA-CA 15 59146840 59146840 single base substitution A G downstream_gene_variant PACA-CA 15 59146862 59146862 single base substitution A G 3_prime_UTR_variant PACA-CA 15 59146862 59146862 single base substitution A G downstream_gene_variant PACA-CA 15 59147807 59147807 single base substitution T G 3_prime_UTR_variant PACA-CA 15 59147807 59147807 single base substitution T G downstream_gene_variant PACA-CA 15 59147893 59147893 single base substitution G A 3_prime_UTR_variant PACA-CA 15 59147893 59147893 single base substitution G A downstream_gene_variant PACA-CA 15 59150037 59150037 single base substitution G T 3_prime_UTR_variant PACA-CA 15 59150037 59150037 single base substitution G T downstream_gene_variant PACA-CA 15 59152370 59152370 single base substitution G A 3_prime_UTR_variant PACA-CA 15 59152370 59152370 single base substitution G A downstream_gene_variant PACA-CA 15 59154902 59154902 insertion of <=200bp - A downstream_gene_variant PACA-CA 15 59155177 59155177 single base substitution A T downstream_gene_variant PACA-CA 15 59158593 59158593 single base substitution C A downstream_gene_variant PACA-CA 15 59158594 59158594 single base substitution T C downstream_gene_variant PAEN-AU 15 59059152 59059152 single base substitution A C upstream_gene_variant PAEN-AU 15 59136569 59136569 single base substitution A C intron_variant PAEN-IT 15 59059448 59059448 single base substitution G T upstream_gene_variant PAEN-IT 15 59061357 59061357 single base substitution A G upstream_gene_variant PAEN-IT 15 59065860 59065860 single base substitution C T intron_variant PAEN-IT 15 59070026 59070026 single base substitution T C intron_variant PAEN-IT 15 59087976 59087976 single base substitution T C intron_variant PAEN-IT 15 59087976 59087976 single base substitution T C upstream_gene_variant PAEN-IT 15 59147372 59147372 single base substitution G T 3_prime_UTR_variant PAEN-IT 15 59147372 59147372 single base substitution G T downstream_gene_variant PBCA-DE 15 59060385 59060385 single base substitution T A upstream_gene_variant PBCA-DE 15 59066363 59066365 deletion of <=200bp TCC - intron_variant PBCA-DE 15 59069059 59069059 insertion of <=200bp - A intron_variant PBCA-DE 15 59070836 59070836 insertion of <=200bp - T intron_variant PBCA-DE 15 59093625 59093625 single base substitution G A intron_variant PBCA-DE 15 59097847 59097847 single base substitution C A intron_variant PBCA-DE 15 59113789 59113789 single base substitution T C intron_variant PBCA-DE 15 59123237 59123237 insertion of <=200bp - TA intron_variant PBCA-DE 15 59138950 59138950 single base substitution C T intron_variant PRAD-CA 15 59083861 59083861 single base substitution A G intron_variant PRAD-CA 15 59083861 59083861 single base substitution A G upstream_gene_variant PRAD-CA 15 59098001 59098001 single base substitution A T intron_variant PRAD-CA 15 59105247 59105247 single base substitution A G intron_variant PRAD-CA 15 59127951 59127951 single base substitution G C downstream_gene_variant PRAD-CA 15 59127951 59127951 single base substitution G C intron_variant PRAD-CA 15 59130024 59130024 single base substitution C A intron_variant PRAD-CA 15 59133325 59133325 single base substitution C T intron_variant PRAD-UK 15 59081071 59081071 single base substitution C T intron_variant PRAD-UK 15 59081849 59081849 insertion of <=200bp - T intron_variant PRAD-UK 15 59109602 59109610 deletion of <=200bp ATACATCAG - intron_variant PRAD-UK 15 59109610 59109610 single base substitution G C intron_variant PRAD-UK 15 59130314 59130314 single base substitution A C intron_variant PRAD-US 15 59064095 59064095 single base substitution T G exon_variant PRAD-US 15 59064095 59064095 single base substitution T G synonymous_variant P167P 501T>G RECA-EU 15 59069833 59069833 single base substitution A T intron_variant RECA-EU 15 59072260 59072260 single base substitution C T intron_variant RECA-EU 15 59074674 59074674 single base substitution C A intron_variant RECA-EU 15 59078207 59078207 single base substitution T G intron_variant RECA-EU 15 59079172 59079172 single base substitution G C intron_variant RECA-EU 15 59103443 59103443 single base substitution A T intron_variant RECA-EU 15 59110442 59110442 single base substitution A T intron_variant RECA-EU 15 59112057 59112057 single base substitution G T intron_variant RECA-EU 15 59129738 59129738 single base substitution C A intron_variant RECA-EU 15 59157566 59157566 single base substitution G T downstream_gene_variant RECA-EU 15 59157567 59157567 single base substitution C A downstream_gene_variant SKCA-BR 15 59060842 59060842 single base substitution G A upstream_gene_variant SKCA-BR 15 59066691 59066691 single base substitution G A intron_variant SKCA-BR 15 59068058 59068060 deletion of <=200bp ATT - intron_variant SKCA-BR 15 59069256 59069256 single base substitution A T intron_variant SKCA-BR 15 59070448 59070448 single base substitution T A intron_variant SKCA-BR 15 59071020 59071020 single base substitution T C intron_variant SKCA-BR 15 59071042 59071042 single base substitution C T intron_variant SKCA-BR 15 59078740 59078740 single base substitution G A intron_variant SKCA-BR 15 59079303 59079303 single base substitution A T intron_variant SKCA-BR 15 59082784 59082785 deletion of <=200bp TA - intron_variant SKCA-BR 15 59082786 59082787 deletion of <=200bp GT - intron_variant SKCA-BR 15 59082787 59082787 single base substitution T G intron_variant SKCA-BR 15 59086557 59086557 insertion of <=200bp - GGGGT intron_variant SKCA-BR 15 59086557 59086557 insertion of <=200bp - GGGGT upstream_gene_variant SKCA-BR 15 59087377 59087377 insertion of <=200bp - AAAAT intron_variant SKCA-BR 15 59087377 59087377 insertion of <=200bp - AAAAT upstream_gene_variant SKCA-BR 15 59088768 59088768 single base substitution A T intron_variant SKCA-BR 15 59089056 59089056 single base substitution G C intron_variant SKCA-BR 15 59093579 59093580 deletion of <=200bp TA - intron_variant SKCA-BR 15 59093659 59093659 single base substitution G A intron_variant SKCA-BR 15 59096980 59096980 single base substitution G A intron_variant SKCA-BR 15 59100227 59100227 single base substitution C T intron_variant SKCA-BR 15 59100228 59100228 single base substitution C A intron_variant SKCA-BR 15 59103328 59103328 single base substitution C A intron_variant SKCA-BR 15 59106130 59106131 deletion of <=200bp CT - intron_variant SKCA-BR 15 59106393 59106393 single base substitution C T intron_variant SKCA-BR 15 59110699 59110699 single base substitution C T intron_variant SKCA-BR 15 59112738 59112738 single base substitution C T intron_variant SKCA-BR 15 59115338 59115338 single base substitution C T intron_variant SKCA-BR 15 59117514 59117514 single base substitution G A intron_variant SKCA-BR 15 59119829 59119829 single base substitution A T intron_variant SKCA-BR 15 59120257 59120257 single base substitution C T intron_variant SKCA-BR 15 59120626 59120626 single base substitution T C intron_variant SKCA-BR 15 59121412 59121412 single base substitution A C intron_variant SKCA-BR 15 59124955 59124955 single base substitution A C downstream_gene_variant SKCA-BR 15 59124955 59124955 single base substitution A C intron_variant SKCA-BR 15 59127394 59127394 single base substitution T C downstream_gene_variant SKCA-BR 15 59127394 59127394 single base substitution T C intron_variant SKCA-BR 15 59131515 59131515 insertion of <=200bp - CTGTTTGTT intron_variant SKCA-BR 15 59137118 59137119 deletion of <=200bp TA - intron_variant SKCA-BR 15 59137487 59137487 single base substitution C T intron_variant SKCA-BR 15 59138307 59138307 single base substitution G A intron_variant SKCA-BR 15 59138314 59138314 single base substitution C A intron_variant SKCA-BR 15 59138729 59138729 single base substitution T C intron_variant SKCA-BR 15 59138794 59138796 deletion of <=200bp CAA - intron_variant SKCA-BR 15 59141706 59141706 single base substitution A G intron_variant SKCA-BR 15 59145139 59145139 single base substitution T G intron_variant SKCA-BR 15 59145169 59145171 deletion of <=200bp TAA - intron_variant SKCA-BR 15 59145745 59145745 single base substitution T G intron_variant SKCA-BR 15 59146442 59146442 insertion of <=200bp - CA intron_variant SKCA-BR 15 59148133 59148133 single base substitution C T 3_prime_UTR_variant SKCA-BR 15 59148133 59148133 single base substitution C T downstream_gene_variant SKCA-BR 15 59149732 59149732 insertion of <=200bp - CAA 3_prime_UTR_variant SKCA-BR 15 59149732 59149732 insertion of <=200bp - CAA downstream_gene_variant SKCA-BR 15 59150222 59150222 single base substitution C T 3_prime_UTR_variant SKCA-BR 15 59150222 59150222 single base substitution C T downstream_gene_variant SKCA-BR 15 59155217 59155218 deletion of <=200bp GT - downstream_gene_variant SKCA-BR 15 59155252 59155252 single base substitution A G downstream_gene_variant SKCA-BR 15 59157257 59157257 single base substitution C T downstream_gene_variant SKCM-US 15 59063690 59063690 single base substitution G A exon_variant SKCM-US 15 59063690 59063690 single base substitution G A synonymous_variant E32E 96G>A SKCM-US 15 59139614 59139614 single base substitution G A 3_prime_UTR_variant SKCM-US 15 59139614 59139614 single base substitution G A missense_variant R496Q 1487G>A SKCM-US 15 59146706 59146706 single base substitution C T 3_prime_UTR_variant SKCM-US 15 59146706 59146706 single base substitution C T missense_variant P587L 1760C>T SKCM-US 15 59146706 59146706 single base substitution C T missense_variant P588L 1763C>T STAD-US 15 59063818 59063818 single base substitution T C exon_variant STAD-US 15 59063818 59063818 single base substitution T C missense_variant V75A 224T>C STAD-US 15 59080107 59080107 single base substitution G A splice_region_variant STAD-US 15 59102469 59102469 single base substitution C T exon_variant STAD-US 15 59102469 59102469 single base substitution C T missense_variant T335I 1004C>T STAD-US 15 59102469 59102469 single base substitution C T missense_variant T65I 194C>T STAD-US 15 59144134 59144134 single base substitution T A 3_prime_UTR_variant STAD-US 15 59144134 59144134 single base substitution T A synonymous_variant A569A 1707T>A STAD-US 15 59146784 59146784 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 15 59146784 59146784 deletion of <=200bp A - frameshift_variant E613 STAD-US 15 59146784 59146784 deletion of <=200bp A - frameshift_variant E614 THCA-SA 15 59064249 59064249 single base substitution A T exon_variant THCA-SA 15 59064249 59064249 single base substitution A T stop_gained K219* 655A>T THCA-US 15 59113964 59113964 single base substitution G A exon_variant THCA-US 15 59113964 59113964 single base substitution G A missense_variant V121M 361G>A THCA-US 15 59113964 59113964 single base substitution G A missense_variant V391M 1171G>A UCEC-US 15 59064077 59064077 single base substitution C T exon_variant UCEC-US 15 59064077 59064077 single base substitution C T synonymous_variant C161C 483C>T UCEC-US 15 59064145 59064145 single base substitution C A exon_variant UCEC-US 15 59064145 59064145 single base substitution C A missense_variant S184Y 551C>A UCEC-US 15 59064436 59064436 single base substitution T C splice_donor_variant UCEC-US 15 59102504 59102504 single base substitution C T exon_variant UCEC-US 15 59102504 59102504 single base substitution C T intron_variant UCEC-US 15 59102504 59102504 single base substitution C T stop_gained R347* 1039C>T UCEC-US 15 59102504 59102504 single base substitution C T stop_gained R77* 229C>T UCEC-US 15 59144009 59144009 single base substitution A G 3_prime_UTR_variant UCEC-US 15 59144009 59144009 single base substitution A G missense_variant S528G 1582A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CF-A27C-01 COSM1301264 c.1472C>T p.S491L Substitution - Missense 15:58847400-58847400 + TCGA-BR-4368-01 COSM4055900 c.1004C>T p.T335I Substitution - Missense 15:58810270-58810270 + CSCC-11-T COSM4466969 c.1464C>T p.F488F Substitution - coding silent 15:58847392-58847392 + HCC20 COSM1608514 c.1579C>T p.Q527* Substitution - Nonsense 15:58851807-58851807 + CN-AML-CR-13-Dx COSM2219497 c.1391C>T p.T464M Substitution - Missense 15:58847319-58847319 + LIM2405 COSM4613404 c.165_167delGGC p.A59delA Deletion - In frame 15:58771560-58771562 + TCGA-BP-4770-01 COSM470881 c.1671T>C p.A557A Substitution - coding silent 15:58851899-58851899 + BD57T COSM5510736 c.1045T>C p.F349L Substitution - Missense 15:58810311-58810311 + Au4 COSM5603552 c.1264C>T p.Q422* Substitution - Nonsense 15:58831812-58831812 + ESO-081 COSM1243246 c.1333C>T p.R445W Substitution - Missense 15:58831881-58831881 + Br27P COSM40074 c.18G>A p.E6E Substitution - coding silent 15:58771413-58771413 + TCGA-BR-8591-01 COSM4055901 c.1707T>A p.A569A Substitution - coding silent 15:58851935-58851935 + PT22_1 COSM5902365 c.935C>T p.S312L Substitution - Missense 15:58802349-58802349 + TCGA-CW-5585-01 COSM470882 c.1802G>A p.R601Q Substitution - Missense 15:58854546-58854546 + TCGA-CG-4306-01 COSM4055899 c.843G>A p.V281V Substitution - coding silent 15:58787908-58787908 + T3724 COSM4683118 c.1841delA p.N616fs*>6 Deletion - Frameshift 15:58854585-58854585 + TCGA-AM-5820-01 COSM3690458 c.148G>A p.G50S Substitution - Missense 15:58771543-58771543 + 8804_PT COSM5754707 c.1697A>G p.Q566R Substitution - Missense 15:58851925-58851925 + PTC_49 COSM5959718 c.655A>T p.K219* Substitution - Nonsense 15:58772050-58772050 + TCGA-EB-A3Y7-01 COSM3502774 c.1763C>T p.P588L Substitution - Missense 15:58854507-58854507 + T3202 COSM4683117 c.1541A>G p.Q514R Substitution - Missense 15:58847469-58847469 + TCGA-C4-A0F1-01 COSM416881 c.1781C>G p.S594C Substitution - Missense 15:58854525-58854525 + TCGA-D8-A1XK-01 COSM3816444 c.745C>T p.Q249* Substitution - Nonsense 15:58772140-58772140 + TCGA-MH-A55W-01 COSM3988023 c.1446A>T p.V482V Substitution - coding silent 15:58847374-58847374 + DLD1 COSM4623135 c.1508C>T p.T503I Substitution - Missense 15:58847436-58847436 + TCGA-BT-A20R-01 COSM1301263 c.1237G>C p.E413Q Substitution - Missense 15:58831785-58831785 + TCGA-AP-A0LD-01 COSM963353 c.840+2T>C p.? Unknown 15:58772237-58772237 + TCGA-F4-6570-01 COSM1373775 c.577A>G p.S193G Substitution - Missense 15:58771972-58771972 + TCGA-AP-A0LM-01 COSM963354 c.1039C>T p.R347* Substitution - Nonsense 15:58810305-58810305 + BICR_22 COSM4593369 c.212G>C p.G71A Substitution - Missense 15:58771607-58771607 + TCGA-AP-A056-01 COSM963355 c.1582A>G p.S528G Substitution - Missense 15:58851810-58851810 + A549 COSM1678501 c.1504G>T p.E502* Substitution - Nonsense 15:58847432-58847432 + S02249 COSM5702023 c.1369-2_1369-1AG>TT p.? Unknown 15:58847295-58847296 + HCC2998 COSM963354 c.1039C>T p.R347* Substitution - Nonsense 15:58810305-58810305 + LUAD-NYU284 COSM372794 c.633G>T p.L211F Substitution - Missense 15:58772028-58772028 + HCC20T COSM1608514 c.1579C>T p.Q527* Substitution - Nonsense 15:58851807-58851807 + TCGA-AP-A059-01 COSM963354 c.1039C>T p.R347* Substitution - Nonsense 15:58810305-58810305 + CHC429T COSM217081 c.1222G>T p.E408* Substitution - Nonsense 15:58821816-58821816 + TCGA-AG-A002-01 COSM260812 c.564C>A p.S188R Substitution - Missense 15:58771959-58771959 + TCGA-EE-A29E-06 COSM3502772 c.96G>A p.E32E Substitution - coding silent 15:58771491-58771491 + TARGET-20-PASHYZ-09A-03D COSM5487581 c.1375C>T p.L459L Substitution - coding silent 15:58847303-58847303 + TCGA-EJ-5505-01 COSM1129165 c.501T>G p.P167P Substitution - coding silent 15:58771896-58771896 + LUAD-YINHD COSM349072 c.1686G>T p.Q562H Substitution - Missense 15:58851914-58851914 + TCGA-46-6026-01 COSM700853 c.115G>C p.D39H Substitution - Missense 15:58771510-58771510 + B80 COSM1745293 c.1491_1500del10 p.P498fs*12 Deletion - Frameshift 15:58847419-58847428 + TCGA-HU-8602-01 COSM4055898 c.224T>C p.V75A Substitution - Missense 15:58771619-58771619 + HCC2998 COSM963354 c.1039C>T p.R347* Substitution - Nonsense 15:58810305-58810305 + LU-1991 COSM5614251 c.1644A>C p.K548N Substitution - Missense 15:58851872-58851872 + TCGA-B5-A11E-01 COSM963351 c.483C>T p.C161C Substitution - coding silent 15:58771878-58771878 + OSCC-GB_01040111 COSM4886103 c.358G>T p.G120C Substitution - Missense 15:58771753-58771753 + AOCS-086-3-2 COSM3981583 c.1069G>C p.V357L Substitution - Missense 15:58810335-58810335 + Pat_63_B COSM5849445 c.964-1G>A p.? Unknown 15:58810229-58810229 + ESCC_BICR_036T COSM5432093 c.1001A>T p.Q334L Substitution - Missense 15:58810267-58810267 + RH30SJ_ COSM4985359 c.667G>C p.G223R Substitution - Missense 15:58772062-58772062 + T578 COSM2219485 c.701A>G p.K234R Substitution - Missense 15:58772096-58772096 + CSCC-31-T COSM4458595 c.1091C>T p.P364L Substitution - Missense 15:58810357-58810357 + ME032T COSM227362 c.1468G>A p.D490N Substitution - Missense 15:58847396-58847396 + HT115 COSM2219480 c.589G>A p.A197T Substitution - Missense 15:58771984-58771984 + CHC429T COSM217081 c.1222G>T p.E408* Substitution - Nonsense 15:58821816-58821816 + 5_RESISTANT COSM1724901 c.1705_1707delGCT p.A574delA Deletion - In frame 15:58851933-58851935 + TCGA-IR-A3LK-01 COSM4817421 c.711C>T p.F237F Substitution - coding silent 15:58772106-58772106 + KYSE-30 COSM470882 c.1802G>A p.R601Q Substitution - Missense 15:58854546-58854546 + Pat_40_B COSM5184831 c.607_609delGAG p.E206delE Deletion - In frame 15:58772002-58772004 + TCGA-BS-A0UV-01 COSM963352 c.551C>A p.S184Y Substitution - Missense 15:58771946-58771946 + PT14_1 COSM5897097 c.1543-1G>A p.? Unknown 15:58851770-58851770 + T2999 COSM2219498 c.1392G>A p.T464T Substitution - coding silent 15:58847320-58847320 + TCGA-DJ-A2PW-01 COSM3370214 c.1171G>A p.V391M Substitution - Missense 15:58821765-58821765 + TCGA-D3-A2JP-06 COSM3502773 c.1487G>A p.R496Q Substitution - Missense 15:58847415-58847415 + CHC429T COSM217081 c.1222G>T p.E408* Substitution - Nonsense 15:58821816-58821816 + T3658 COSM4683116 c.576T>C p.N192N Substitution - coding silent 15:58771971-58771971 + LUAD-B00523 COSM331790 c.1598G>A p.W533* Substitution - Nonsense 15:58851826-58851826 + 8804_CLM COSM5754707 c.1697A>G p.Q566R Substitution - Missense 15:58851925-58851925 + S02397 COSM5699113 c.874G>A p.A292T Substitution - Missense 15:58787939-58787939 + TCGA-24-2267-01 COSM115995 c.716G>A p.G239E Substitution - Missense 15:58772111-58772111 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.591122 15q21.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K548N c.1644A>C 15 59144071 NSCLC C G Missense p.S594C c.1781C>G 15 59146724 BLCA C T Missense p.P202L c.605C>T 15 59064199 CM C T Missense p.S491L c.1472C>T 15 59139599 BLCA C T Missense p.T335I c.1004C>T 15 59102469 STAD C T Synonymous p.F179F c.537C>T 15 59064131 HNSC C T Synonymous p.I248I c.744C>T 15 59064338 LUAD C T Synonymous p.P265P c.795C>T 15 59064389 LUAD G A IntronicSNV . c.1123-3764G>A 15 59110152 PIA G A Missense p.G239E c.716G>A 15 59064310 OV G A Missense p.G42E c.125G>A 15 59063719 CM G A Missense p.R496Q c.1487G>A 15 59139614 CM G A Missense p.R601Q c.1802G>A 15 59146745 RCCC G A Missense p.V391M c.1171G>A 15 59113964 THCA G A Synonymous p.E6E c.18G>A 15 59063612 GBM G A Synonymous p.V281V c.843G>A 15 59080107 STAD G C Missense p.D39H c.115G>C 15 59063709 LUSC G C Missense p.E413Q c.1237G>C 15 59123984 BLCA G C Missense p.R605P c.1814G>C 15 59146757 HNSC G C Missense p.W247C c.741G>C 15 59064335 CM T C Missense p.L92S c.275T>C 15 59063869 CM T C SpliceDonorSNV . c.840+2T>C 15 59064436 UCEC T G Synonymous p.P167P c.501T>G 15 59064095 PRAD