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 BLCA 17 2570426 2570426 + Silent SNP C C T TCGA-GD-A76B-01A-11D-A32B-08 TCGA-GD-A76B-10A-01D-A329-08 g.chr17:2570426C>T c.333C>T c.(331-333)gtC>gtT p.V111V BLCA 17 2575996 2575996 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr17:2575996C>T c.616C>T c.(616-618)Cat>Tat p.H206Y BLCA 17 2577440 2577440 + Missense_Mutation SNP C C G TCGA-UY-A78N-01A-12D-A339-08 TCGA-UY-A78N-10A-01D-A339-08 g.chr17:2577440C>G c.758C>G c.(757-759)tCc>tGc p.S253C BRCA 17 2569362 2569362 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 g.chr17:2569362C>G c.170C>G c.(169-171)tCt>tGt p.S57C BRCA 17 2573487 2573487 + Nonsense_Mutation SNP C C T TCGA-D8-A1X8-01A-11D-A14K-09 TCGA-D8-A1X8-10A-01W-A16I-09 g.chr17:2573487C>T c.430C>T c.(430-432)Cga>Tga p.R144* BRCA 17 2575983 2575983 + Missense_Mutation SNP G G T TCGA-A8-A07P-01A-11W-A019-09 TCGA-A8-A07P-10A-01W-A021-09 g.chr17:2575983G>T c.603G>T c.(601-603)atG>atT p.M201I CESC 17 2568719 2568719 + Nonsense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 g.chr17:2568719C>A c.86C>A c.(85-87)tCa>tAa p.S29* CESC 17 2570453 2570453 + Silent SNP C C T TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 g.chr17:2570453C>T c.360C>T c.(358-360)ttC>ttT p.F120F CESC 17 2585025 2585025 + Missense_Mutation SNP T T G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr17:2585025T>G c.1162T>G c.(1162-1164)Ttc>Gtc p.F388V CHOL 17 2570445 2570445 + Missense_Mutation SNP C C T TCGA-3X-AAVC-01A-21D-A417-09 TCGA-3X-AAVC-10A-01D-A41A-09 g.chr17:2570445C>T c.352C>T c.(352-354)Cct>Tct p.P118S COAD 17 2568692 2568692 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr17:2568692G>A c.59G>A c.(58-60)cGt>cAt p.R20H COAD 17 2569347 2569347 + Frame_Shift_Del DEL A A - TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr17:2569347delA c.155delA c.(154-156)gaafs p.E52fs COAD 17 2570305 2570305 + Missense_Mutation SNP A A G TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr17:2570305A>G c.212A>G c.(211-213)aAg>aGg p.K71R COAD 17 2570332 2570332 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:2570332C>T c.239C>T c.(238-240)aCg>aTg p.T80M COAD 17 2573468 2573468 + Silent SNP T T C TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr17:2573468T>C c.411T>C c.(409-411)taT>taC p.Y137Y COAD 17 2573488 2573488 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:2573488G>A c.431G>A c.(430-432)cGa>cAa p.R144Q COAD 17 2583567 2583567 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr17:2583567G>A c.1112G>A c.(1111-1113)cGa>cAa p.R371Q COADREAD 17 2568692 2568692 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr17:2568692G>A c.59G>A c.(58-60)cGt>cAt p.R20H COADREAD 17 2569347 2569347 + Frame_Shift_Del DEL A A - TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr17:2569347delA c.155delA c.(154-156)gaafs p.E52fs COADREAD 17 2570305 2570305 + Missense_Mutation SNP A A G TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr17:2570305A>G c.212A>G c.(211-213)aAg>aGg p.K71R COADREAD 17 2570332 2570332 + Missense_Mutation SNP C C T TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:2570332C>T c.239C>T c.(238-240)aCg>aTg p.T80M COADREAD 17 2573468 2573468 + Silent SNP T T C TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr17:2573468T>C c.411T>C c.(409-411)taT>taC p.Y137Y COADREAD 17 2573488 2573488 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:2573488G>A c.431G>A c.(430-432)cGa>cAa p.R144Q COADREAD 17 2583567 2583567 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr17:2583567G>A c.1112G>A c.(1111-1113)cGa>cAa p.R371Q ESCA 17 2576016 2576016 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr17:2576016G>A c.636G>A c.(634-636)agG>agA p.R212R ESCA 17 2579890 2579890 + Frame_Shift_Del DEL T T - TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr17:2579890delT c.992delT c.(991-993)cttfs p.L331fs GBMLGG 17 2569347 2569347 + Frame_Shift_Del DEL A A - TCGA-DU-8165-01A-11D-2253-08 TCGA-DU-8165-10A-01D-2253-08 g.chr17:2569347delA c.155delA c.(154-156)gaafs p.E52fs GBMLGG 17 2576020 2576020 + Missense_Mutation SNP A A G TCGA-DU-7306-01A-11D-2086-08 TCGA-DU-7306-10A-01D-2086-08 g.chr17:2576020A>G c.640A>G c.(640-642)Aaa>Gaa p.K214E GBMLGG 17 2579818 2579818 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:2579818C>A c.920C>A c.(919-921)cCt>cAt p.P307H GBMLGG 17 2579889 2579889 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:2579889C>A c.991C>A c.(991-993)Ctt>Att p.L331I HNSC 17 2577392 2577392 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr17:2577392T>C c.710T>C c.(709-711)gTa>gCa p.V237A HNSC 17 2585085 2585085 + Missense_Mutation SNP G G C TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr17:2585085G>C c.1222G>C c.(1222-1224)Gag>Cag p.E408Q KIPAN 17 2570313 2570313 + Missense_Mutation SNP G G A TCGA-A3-3347-01A-02D-1386-10 TCGA-A3-3347-11A-01D-1251-10 g.chr17:2570313G>A c.220G>A c.(220-222)Gaa>Aaa p.E74K KIPAN 17 2577360 2577360 + Silent SNP T T C TCGA-CW-6090-01A-11D-1669-08 TCGA-CW-6090-11A-01D-1669-08 g.chr17:2577360T>C c.678T>C c.(676-678)tgT>tgC p.C226C KIPAN 17 2577395 2577395 + Missense_Mutation SNP G G A TCGA-2Z-A9JK-01A-11D-A42J-10 TCGA-2Z-A9JK-10A-01D-A42M-10 g.chr17:2577395G>A c.713G>A c.(712-714)cGt>cAt p.R238H KIRC 17 2570313 2570313 + Missense_Mutation SNP G G A TCGA-A3-3347-01A-02D-1386-10 TCGA-A3-3347-11A-01D-1251-10 g.chr17:2570313G>A c.220G>A c.(220-222)Gaa>Aaa p.E74K KIRC 17 2577360 2577360 + Silent SNP T T C TCGA-CW-6090-01A-11D-1669-08 TCGA-CW-6090-11A-01D-1669-08 g.chr17:2577360T>C c.678T>C c.(676-678)tgT>tgC p.C226C KIRP 17 2577395 2577395 + Missense_Mutation SNP G G A TCGA-2Z-A9JK-01A-11D-A42J-10 TCGA-2Z-A9JK-10A-01D-A42M-10 g.chr17:2577395G>A c.713G>A c.(712-714)cGt>cAt p.R238H LGG 17 2569347 2569347 + Frame_Shift_Del DEL A A - TCGA-DU-8165-01A-11D-2253-08 TCGA-DU-8165-10A-01D-2253-08 g.chr17:2569347delA c.155delA c.(154-156)gaafs p.E52fs LGG 17 2576020 2576020 + Missense_Mutation SNP A A G TCGA-DU-7306-01A-11D-2086-08 TCGA-DU-7306-10A-01D-2086-08 g.chr17:2576020A>G c.640A>G c.(640-642)Aaa>Gaa p.K214E LGG 17 2579818 2579818 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:2579818C>A c.920C>A c.(919-921)cCt>cAt p.P307H LGG 17 2579889 2579889 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:2579889C>A c.991C>A c.(991-993)Ctt>Att p.L331I LIHC 17 2569341 2569341 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr17:2569341delT c.149delT c.(148-150)cttfs p.L51fs LUAD 17 2569368 2569368 + Frame_Shift_Del DEL T T - TCGA-62-8397-01A-11D-2323-08 TCGA-62-8397-10A-01D-2323-08 g.chr17:2569368delT c.176delT c.(175-177)attfs p.I59fs LUAD 17 2583589 2583589 + Silent SNP G G T TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr17:2583589G>T c.1134G>T c.(1132-1134)gcG>gcT p.A378A LUSC 17 2541586 2541586 + Missense_Mutation SNP G G T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr17:2541586G>T c.4G>T c.(4-6)Gtg>Ttg p.V2L PAAD 17 2576029 2576029 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:2576029A>C c.649A>C c.(649-651)Aaa>Caa p.K217Q PAAD 17 2583589 2583589 + Silent SNP G G A TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr17:2583589G>A c.1134G>A c.(1132-1134)gcG>gcA p.A378A SKCM 17 2568691 2568691 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr17:2568691C>T c.58C>T c.(58-60)Cgt>Tgt p.R20C SKCM 17 2569346 2569347 + Frame_Shift_Ins INS - - A TCGA-D9-A6E9-06A-12D-A30X-08 TCGA-D9-A6E9-10A-01D-A30X-08 g.chr17:2569346_2569347insA c.154_155insA c.(154-156)gaafs p.E52fs SKCM 17 2570400 2570400 + Missense_Mutation SNP G G C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr17:2570400G>C c.307G>C c.(307-309)Gca>Cca p.A103P SKCM 17 2570417 2570417 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:2570417G>A c.324G>A c.(322-324)agG>agA p.R108R SKCM 17 2579865 2579865 + Missense_Mutation SNP T T G TCGA-D9-A6EG-06A-12D-A32N-08 TCGA-D9-A6EG-10A-01D-A32N-08 g.chr17:2579865T>G c.967T>G c.(967-969)Tgg>Ggg p.W323G SKCM 17 2579866 2579866 + Missense_Mutation SNP G G C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr17:2579866G>C c.968G>C c.(967-969)tGg>tCg p.W323S SKCM 17 2583502 2583502 + Silent SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr17:2583502G>A c.1047G>A c.(1045-1047)ggG>ggA p.G349G SKCM 17 2585041 2585041 + Missense_Mutation SNP C C T TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr17:2585041C>T c.1178C>T c.(1177-1179)cCc>cTc p.P393L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 17 2570445 2570445 single base substitution C T 3_prime_UTR_variant BLCA-CN 17 2570445 2570445 single base substitution C T downstream_gene_variant BLCA-CN 17 2570445 2570445 single base substitution C T exon_variant BLCA-CN 17 2570445 2570445 single base substitution C T intron_variant BLCA-CN 17 2570445 2570445 single base substitution C T missense_variant P118S 352C>T BLCA-CN 17 2570445 2570445 single base substitution C T upstream_gene_variant BLCA-US 17 2575996 2575996 single base substitution C T downstream_gene_variant BLCA-US 17 2575996 2575996 single base substitution C T exon_variant BLCA-US 17 2575996 2575996 single base substitution C T intron_variant BLCA-US 17 2575996 2575996 single base substitution C T missense_variant H206Y 616C>T BLCA-US 17 2575996 2575996 single base substitution C T missense_variant H35Y 103C>T BLCA-US 17 2575996 2575996 single base substitution C T missense_variant H38Y 112C>T BLCA-US 17 2575996 2575996 single base substitution C T upstream_gene_variant BOCA-FR 17 2493406 2493406 single base substitution C T upstream_gene_variant BOCA-FR 17 2565502 2565502 single base substitution T C intron_variant BOCA-FR 17 2565502 2565502 single base substitution T C upstream_gene_variant BRCA-EU 17 2492418 2492418 single base substitution C T upstream_gene_variant BRCA-EU 17 2492750 2492750 single base substitution G A upstream_gene_variant BRCA-EU 17 2492830 2492830 single base substitution C G upstream_gene_variant BRCA-EU 17 2495621 2495621 single base substitution C T upstream_gene_variant BRCA-EU 17 2496405 2496405 single base substitution C T upstream_gene_variant BRCA-EU 17 2497697 2497697 single base substitution C G intron_variant BRCA-EU 17 2498192 2498192 single base substitution C A intron_variant BRCA-EU 17 2498463 2498463 single base substitution T C intron_variant BRCA-EU 17 2498587 2498587 single base substitution C T intron_variant BRCA-EU 17 2499747 2499747 single base substitution T C intron_variant BRCA-EU 17 2499896 2499896 single base substitution T A intron_variant BRCA-EU 17 2501636 2501636 single base substitution A T intron_variant BRCA-EU 17 2501860 2501860 single base substitution T G intron_variant BRCA-EU 17 2503921 2503921 single base substitution T C intron_variant BRCA-EU 17 2504036 2504036 single base substitution C G intron_variant BRCA-EU 17 2504670 2504670 single base substitution G A intron_variant BRCA-EU 17 2505430 2505430 deletion of <=200bp A - intron_variant BRCA-EU 17 2507156 2507156 single base substitution T C intron_variant BRCA-EU 17 2507281 2507281 single base substitution T C intron_variant BRCA-EU 17 2508506 2508506 single base substitution A G intron_variant BRCA-EU 17 2508506 2508506 single base substitution A G upstream_gene_variant BRCA-EU 17 2509167 2509167 single base substitution A T intron_variant BRCA-EU 17 2509167 2509167 single base substitution A T upstream_gene_variant BRCA-EU 17 2510914 2510914 single base substitution A G intron_variant BRCA-EU 17 2510914 2510914 single base substitution A G upstream_gene_variant BRCA-EU 17 2512715 2512715 single base substitution C G intron_variant BRCA-EU 17 2512715 2512715 single base substitution C G upstream_gene_variant BRCA-EU 17 2513226 2513226 single base substitution C G intron_variant BRCA-EU 17 2513741 2513741 single base substitution T A intron_variant BRCA-EU 17 2521540 2521540 single base substitution C G intron_variant BRCA-EU 17 2521907 2521907 single base substitution A G intron_variant BRCA-EU 17 2524157 2524157 deletion of <=200bp A - intron_variant BRCA-EU 17 2524562 2524562 single base substitution C T intron_variant BRCA-EU 17 2525808 2525808 single base substitution G T intron_variant BRCA-EU 17 2526106 2526106 single base substitution C A intron_variant BRCA-EU 17 2526638 2526638 single base substitution C T intron_variant BRCA-EU 17 2526761 2526761 single base substitution C G intron_variant BRCA-EU 17 2528066 2528066 single base substitution G A intron_variant BRCA-EU 17 2529856 2529856 single base substitution C G intron_variant BRCA-EU 17 2531204 2531204 single base substitution A G intron_variant BRCA-EU 17 2532745 2532745 single base substitution G C intron_variant BRCA-EU 17 2532919 2532919 single base substitution G C intron_variant BRCA-EU 17 2534524 2534524 single base substitution G C intron_variant BRCA-EU 17 2534667 2534667 single base substitution G T intron_variant BRCA-EU 17 2534902 2534902 single base substitution C T intron_variant BRCA-EU 17 2536293 2536293 single base substitution C A intron_variant BRCA-EU 17 2537112 2537113 deletion of <=200bp TT - intron_variant BRCA-EU 17 2538985 2538985 single base substitution T A intron_variant BRCA-EU 17 2539881 2539881 single base substitution C T intron_variant BRCA-EU 17 2543541 2543541 deletion of <=200bp T - downstream_gene_variant BRCA-EU 17 2543541 2543541 deletion of <=200bp T - intron_variant BRCA-EU 17 2543862 2543862 single base substitution C T downstream_gene_variant BRCA-EU 17 2543862 2543862 single base substitution C T intron_variant BRCA-EU 17 2545449 2545449 single base substitution T A downstream_gene_variant BRCA-EU 17 2545449 2545449 single base substitution T A intron_variant BRCA-EU 17 2548215 2548215 single base substitution A G intron_variant BRCA-EU 17 2551013 2551013 single base substitution G A intron_variant BRCA-EU 17 2551788 2551788 single base substitution T C intron_variant BRCA-EU 17 2552131 2552131 single base substitution C G intron_variant BRCA-EU 17 2553149 2553149 single base substitution T A intron_variant BRCA-EU 17 2554053 2554053 insertion of <=200bp - T intron_variant BRCA-EU 17 2555667 2555667 single base substitution C T intron_variant BRCA-EU 17 2556560 2556560 single base substitution G T intron_variant BRCA-EU 17 2558051 2558051 single base substitution T C intron_variant BRCA-EU 17 2558456 2558456 deletion of <=200bp A - intron_variant BRCA-EU 17 2559384 2559384 deletion of <=200bp T - intron_variant BRCA-EU 17 2560662 2560662 single base substitution C A intron_variant BRCA-EU 17 2560760 2560760 single base substitution A T intron_variant BRCA-EU 17 2561103 2561103 single base substitution A T intron_variant BRCA-EU 17 2561611 2561611 deletion of <=200bp G - intron_variant BRCA-EU 17 2564389 2564389 deletion of <=200bp T - intron_variant BRCA-EU 17 2564389 2564389 deletion of <=200bp T - upstream_gene_variant BRCA-EU 17 2565043 2565043 single base substitution C T intron_variant BRCA-EU 17 2565043 2565043 single base substitution C T upstream_gene_variant BRCA-EU 17 2566526 2566526 single base substitution C T intron_variant BRCA-EU 17 2566526 2566526 single base substitution C T upstream_gene_variant BRCA-EU 17 2566716 2566716 single base substitution C T intron_variant BRCA-EU 17 2566716 2566716 single base substitution C T upstream_gene_variant BRCA-EU 17 2566858 2566858 single base substitution G T intron_variant BRCA-EU 17 2566858 2566858 single base substitution G T upstream_gene_variant BRCA-EU 17 2567883 2567883 single base substitution G C intron_variant BRCA-EU 17 2567883 2567883 single base substitution G C upstream_gene_variant BRCA-EU 17 2568632 2568632 deletion of <=200bp T - intron_variant BRCA-EU 17 2568632 2568632 deletion of <=200bp T - upstream_gene_variant BRCA-EU 17 2568883 2568883 single base substitution C G intron_variant BRCA-EU 17 2568883 2568883 single base substitution C G upstream_gene_variant BRCA-EU 17 2571102 2571102 single base substitution T A downstream_gene_variant BRCA-EU 17 2571102 2571102 single base substitution T A intron_variant BRCA-EU 17 2571102 2571102 single base substitution T A upstream_gene_variant BRCA-EU 17 2572068 2572068 single base substitution G A downstream_gene_variant BRCA-EU 17 2572068 2572068 single base substitution G A intron_variant BRCA-EU 17 2572068 2572068 single base substitution G A upstream_gene_variant BRCA-EU 17 2572449 2572449 single base substitution C G downstream_gene_variant BRCA-EU 17 2572449 2572449 single base substitution C G intron_variant BRCA-EU 17 2572449 2572449 single base substitution C G upstream_gene_variant BRCA-EU 17 2572676 2572676 single base substitution C A downstream_gene_variant BRCA-EU 17 2572676 2572676 single base substitution C A intron_variant BRCA-EU 17 2572676 2572676 single base substitution C A upstream_gene_variant BRCA-EU 17 2572789 2572789 single base substitution G T downstream_gene_variant BRCA-EU 17 2572789 2572789 single base substitution G T intron_variant BRCA-EU 17 2572789 2572789 single base substitution G T upstream_gene_variant BRCA-EU 17 2573946 2573946 single base substitution G A downstream_gene_variant BRCA-EU 17 2573946 2573946 single base substitution G A intron_variant BRCA-EU 17 2573946 2573946 single base substitution G A upstream_gene_variant BRCA-EU 17 2574279 2574279 single base substitution C A downstream_gene_variant BRCA-EU 17 2574279 2574279 single base substitution C A intron_variant BRCA-EU 17 2574279 2574279 single base substitution C A upstream_gene_variant BRCA-EU 17 2575259 2575259 single base substitution A G downstream_gene_variant BRCA-EU 17 2575259 2575259 single base substitution A G intron_variant BRCA-EU 17 2575259 2575259 single base substitution A G upstream_gene_variant BRCA-EU 17 2576103 2576103 single base substitution C A downstream_gene_variant BRCA-EU 17 2576103 2576103 single base substitution C A intron_variant BRCA-EU 17 2576103 2576103 single base substitution C A upstream_gene_variant BRCA-EU 17 2576624 2576624 single base substitution G T downstream_gene_variant BRCA-EU 17 2576624 2576624 single base substitution G T intron_variant BRCA-EU 17 2576624 2576624 single base substitution G T upstream_gene_variant BRCA-EU 17 2576744 2576744 single base substitution T G downstream_gene_variant BRCA-EU 17 2576744 2576744 single base substitution T G intron_variant BRCA-EU 17 2576744 2576744 single base substitution T G upstream_gene_variant BRCA-EU 17 2577106 2577106 single base substitution T A downstream_gene_variant BRCA-EU 17 2577106 2577106 single base substitution T A exon_variant BRCA-EU 17 2577106 2577106 single base substitution T A intron_variant BRCA-EU 17 2577885 2577885 single base substitution G A downstream_gene_variant BRCA-EU 17 2577885 2577885 single base substitution G A intron_variant BRCA-EU 17 2578633 2578633 insertion of <=200bp - T downstream_gene_variant BRCA-EU 17 2578633 2578633 insertion of <=200bp - T intron_variant BRCA-EU 17 2578633 2578633 insertion of <=200bp - T upstream_gene_variant BRCA-EU 17 2580447 2580447 deletion of <=200bp A - intron_variant BRCA-EU 17 2580447 2580447 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 2581688 2581688 single base substitution C G intron_variant BRCA-EU 17 2581688 2581688 single base substitution C G upstream_gene_variant BRCA-EU 17 2581864 2581864 deletion of <=200bp A - intron_variant BRCA-EU 17 2581864 2581864 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 2583800 2583800 single base substitution C G intron_variant BRCA-EU 17 2583800 2583800 single base substitution C G upstream_gene_variant BRCA-EU 17 2584834 2584834 single base substitution G A exon_variant BRCA-EU 17 2584834 2584834 single base substitution G A intron_variant BRCA-EU 17 2590850 2590850 single base substitution T C downstream_gene_variant BRCA-EU 17 2592180 2592180 single base substitution G A downstream_gene_variant BRCA-EU 17 2592248 2592248 single base substitution T C downstream_gene_variant BRCA-EU 17 2592839 2592839 single base substitution G A downstream_gene_variant BRCA-EU 17 2593618 2593618 single base substitution C T downstream_gene_variant BRCA-EU 17 2593868 2593868 single base substitution C A downstream_gene_variant BRCA-FR 17 2497697 2497697 single base substitution C G intron_variant BRCA-FR 17 2503878 2503878 single base substitution A C intron_variant BRCA-FR 17 2508506 2508506 single base substitution A G intron_variant BRCA-FR 17 2508506 2508506 single base substitution A G upstream_gene_variant BRCA-FR 17 2513226 2513226 single base substitution C G intron_variant BRCA-FR 17 2526106 2526106 single base substitution C A intron_variant BRCA-FR 17 2526278 2526278 single base substitution C T intron_variant BRCA-FR 17 2528066 2528066 single base substitution G A intron_variant BRCA-FR 17 2534064 2534064 single base substitution T C intron_variant BRCA-FR 17 2536043 2536043 single base substitution G C intron_variant BRCA-FR 17 2537001 2537001 single base substitution G A intron_variant BRCA-FR 17 2572449 2572449 single base substitution C G downstream_gene_variant BRCA-FR 17 2572449 2572449 single base substitution C G intron_variant BRCA-FR 17 2572449 2572449 single base substitution C G upstream_gene_variant BRCA-FR 17 2574279 2574279 single base substitution C A downstream_gene_variant BRCA-FR 17 2574279 2574279 single base substitution C A intron_variant BRCA-FR 17 2574279 2574279 single base substitution C A upstream_gene_variant BRCA-FR 17 2588357 2588357 single base substitution T C 3_prime_UTR_variant BRCA-FR 17 2588357 2588357 single base substitution T C downstream_gene_variant BRCA-UK 17 2501753 2501753 single base substitution C G intron_variant BRCA-UK 17 2546619 2546619 single base substitution C A downstream_gene_variant BRCA-UK 17 2546619 2546619 single base substitution C A intron_variant BRCA-UK 17 2558472 2558472 single base substitution C T intron_variant BRCA-UK 17 2583800 2583800 single base substitution C G intron_variant BRCA-UK 17 2583800 2583800 single base substitution C G upstream_gene_variant BRCA-US 17 2569362 2569362 single base substitution C G 3_prime_UTR_variant BRCA-US 17 2569362 2569362 single base substitution C G exon_variant BRCA-US 17 2569362 2569362 single base substitution C G intron_variant BRCA-US 17 2569362 2569362 single base substitution C G missense_variant S57C 170C>G BRCA-US 17 2569362 2569362 single base substitution C G upstream_gene_variant BRCA-US 17 2573487 2573487 single base substitution C T downstream_gene_variant BRCA-US 17 2573487 2573487 single base substitution C T exon_variant BRCA-US 17 2573487 2573487 single base substitution C T intron_variant BRCA-US 17 2573487 2573487 single base substitution C T stop_gained R144* 430C>T BRCA-US 17 2573487 2573487 single base substitution C T upstream_gene_variant BRCA-US 17 2575983 2575983 single base substitution G T downstream_gene_variant BRCA-US 17 2575983 2575983 single base substitution G T exon_variant BRCA-US 17 2575983 2575983 single base substitution G T intron_variant BRCA-US 17 2575983 2575983 single base substitution G T missense_variant M201I 603G>T BRCA-US 17 2575983 2575983 single base substitution G T missense_variant M30I 90G>T BRCA-US 17 2575983 2575983 single base substitution G T missense_variant M33I 99G>T BRCA-US 17 2575983 2575983 single base substitution G T upstream_gene_variant BTCA-JP 17 2541639 2541639 deletion of <=200bp A - exon_variant BTCA-JP 17 2541639 2541639 deletion of <=200bp A - intron_variant CESC-US 17 2568719 2568719 single base substitution C A exon_variant CESC-US 17 2568719 2568719 single base substitution C A intron_variant CESC-US 17 2568719 2568719 single base substitution C A stop_gained S29* 86C>A CESC-US 17 2568719 2568719 single base substitution C A upstream_gene_variant CESC-US 17 2570453 2570453 single base substitution C T 3_prime_UTR_variant CESC-US 17 2570453 2570453 single base substitution C T downstream_gene_variant CESC-US 17 2570453 2570453 single base substitution C T exon_variant CESC-US 17 2570453 2570453 single base substitution C T intron_variant CESC-US 17 2570453 2570453 single base substitution C T synonymous_variant F120F 360C>T CESC-US 17 2570453 2570453 single base substitution C T upstream_gene_variant CESC-US 17 2585020 2585020 single base substitution C T exon_variant CESC-US 17 2585020 2585020 single base substitution C T intron_variant CESC-US 17 2585025 2585025 single base substitution T G exon_variant CESC-US 17 2585025 2585025 single base substitution T G intron_variant CESC-US 17 2585025 2585025 single base substitution T G missense_variant F183V 547T>G CESC-US 17 2585025 2585025 single base substitution T G missense_variant F186V 556T>G CESC-US 17 2585025 2585025 single base substitution T G missense_variant F388V 1162T>G CESC-US 17 2585025 2585025 single base substitution T G splice_region_variant CLLE-ES 17 2492719 2492719 single base substitution T C upstream_gene_variant CLLE-ES 17 2507733 2507733 single base substitution C T intron_variant CLLE-ES 17 2508647 2508647 single base substitution A G intron_variant CLLE-ES 17 2508647 2508647 single base substitution A G upstream_gene_variant CLLE-ES 17 2513630 2513630 single base substitution C T intron_variant CLLE-ES 17 2527665 2527665 insertion of <=200bp - A intron_variant CLLE-ES 17 2557466 2557466 single base substitution C T intron_variant CLLE-ES 17 2586075 2586075 single base substitution T A 3_prime_UTR_variant CLLE-ES 17 2586075 2586075 single base substitution T A downstream_gene_variant CLLE-ES 17 2586075 2586075 single base substitution T A intron_variant CLLE-ES 17 2588743 2588743 single base substitution G A 3_prime_UTR_variant CLLE-ES 17 2588743 2588743 single base substitution G A downstream_gene_variant CLLE-ES 17 2591997 2591997 single base substitution C T downstream_gene_variant COAD-US 17 2568692 2568692 single base substitution G A exon_variant COAD-US 17 2568692 2568692 single base substitution G A intron_variant COAD-US 17 2568692 2568692 single base substitution G A missense_variant R20H 59G>A COAD-US 17 2568692 2568692 single base substitution G A upstream_gene_variant COAD-US 17 2583567 2583567 single base substitution G A exon_variant COAD-US 17 2583567 2583567 single base substitution G A intron_variant COAD-US 17 2583567 2583567 single base substitution G A missense_variant R166Q 497G>A COAD-US 17 2583567 2583567 single base substitution G A missense_variant R169Q 506G>A COAD-US 17 2583567 2583567 single base substitution G A missense_variant R371Q 1112G>A COAD-US 17 2583567 2583567 single base substitution G A upstream_gene_variant COCA-CN 17 2570316 2570316 single base substitution G A 3_prime_UTR_variant COCA-CN 17 2570316 2570316 single base substitution G A downstream_gene_variant COCA-CN 17 2570316 2570316 single base substitution G A exon_variant COCA-CN 17 2570316 2570316 single base substitution G A intron_variant COCA-CN 17 2570316 2570316 single base substitution G A missense_variant A75T 223G>A COCA-CN 17 2570316 2570316 single base substitution G A upstream_gene_variant COCA-CN 17 2573532 2573532 single base substitution G A downstream_gene_variant COCA-CN 17 2573532 2573532 single base substitution G A exon_variant COCA-CN 17 2573532 2573532 single base substitution G A intron_variant COCA-CN 17 2573532 2573532 single base substitution G A missense_variant D159N 475G>A COCA-CN 17 2573532 2573532 single base substitution G A upstream_gene_variant COCA-CN 17 2583461 2583461 single base substitution G T exon_variant COCA-CN 17 2583461 2583461 single base substitution G T intron_variant COCA-CN 17 2583461 2583461 single base substitution G T missense_variant G131C 391G>T COCA-CN 17 2583461 2583461 single base substitution G T missense_variant G134C 400G>T COCA-CN 17 2583461 2583461 single base substitution G T missense_variant G336C 1006G>T COCA-CN 17 2583461 2583461 single base substitution G T upstream_gene_variant EOPC-DE 17 2493092 2493092 single base substitution G A upstream_gene_variant EOPC-DE 17 2498988 2498988 single base substitution C A intron_variant ESAD-UK 17 2491556 2491556 single base substitution C A upstream_gene_variant ESAD-UK 17 2493642 2493642 single base substitution G C upstream_gene_variant ESAD-UK 17 2495519 2495519 deletion of <=200bp A - upstream_gene_variant ESAD-UK 17 2497293 2497299 deletion of <=200bp GCGCTCC - intron_variant ESAD-UK 17 2497293 2497299 deletion of <=200bp GCGCTCC - splice_region_variant ESAD-UK 17 2497305 2497313 deletion of <=200bp GGCGGCGCG - intron_variant ESAD-UK 17 2513050 2513050 single base substitution C T intron_variant ESAD-UK 17 2516010 2516010 single base substitution C T intron_variant ESAD-UK 17 2517269 2517269 single base substitution C T intron_variant ESAD-UK 17 2518823 2518823 single base substitution C T intron_variant ESAD-UK 17 2530888 2530888 single base substitution A C intron_variant ESAD-UK 17 2532519 2532519 single base substitution G A intron_variant ESAD-UK 17 2533446 2533446 deletion of <=200bp T - intron_variant ESAD-UK 17 2536441 2536441 deletion of <=200bp T - intron_variant ESAD-UK 17 2537673 2537673 single base substitution C T intron_variant ESAD-UK 17 2538899 2538899 single base substitution A G intron_variant ESAD-UK 17 2539539 2539539 single base substitution T A intron_variant ESAD-UK 17 2540720 2540720 single base substitution A T intron_variant ESAD-UK 17 2540872 2540872 single base substitution A C intron_variant ESAD-UK 17 2545859 2545859 single base substitution G A downstream_gene_variant ESAD-UK 17 2545859 2545859 single base substitution G A intron_variant ESAD-UK 17 2546584 2546584 single base substitution C T downstream_gene_variant ESAD-UK 17 2546584 2546584 single base substitution C T intron_variant ESAD-UK 17 2549864 2549864 single base substitution T C intron_variant ESAD-UK 17 2552057 2552057 single base substitution A T intron_variant ESAD-UK 17 2552729 2552729 single base substitution G A intron_variant ESAD-UK 17 2554060 2554060 single base substitution G T intron_variant ESAD-UK 17 2556883 2556883 single base substitution G A intron_variant ESAD-UK 17 2560377 2560377 single base substitution C G intron_variant ESAD-UK 17 2562303 2562303 single base substitution T A intron_variant ESAD-UK 17 2564889 2564889 single base substitution C T intron_variant ESAD-UK 17 2564889 2564889 single base substitution C T upstream_gene_variant ESAD-UK 17 2565990 2565990 single base substitution C T intron_variant ESAD-UK 17 2565990 2565990 single base substitution C T upstream_gene_variant ESAD-UK 17 2568632 2568632 deletion of <=200bp T - intron_variant ESAD-UK 17 2568632 2568632 deletion of <=200bp T - upstream_gene_variant ESAD-UK 17 2571193 2571193 single base substitution C G downstream_gene_variant ESAD-UK 17 2571193 2571193 single base substitution C G intron_variant ESAD-UK 17 2571193 2571193 single base substitution C G upstream_gene_variant ESAD-UK 17 2572493 2572493 single base substitution A T downstream_gene_variant ESAD-UK 17 2572493 2572493 single base substitution A T intron_variant ESAD-UK 17 2572493 2572493 single base substitution A T upstream_gene_variant ESAD-UK 17 2574486 2574486 insertion of <=200bp - T downstream_gene_variant ESAD-UK 17 2574486 2574486 insertion of <=200bp - T intron_variant ESAD-UK 17 2574486 2574486 insertion of <=200bp - T upstream_gene_variant ESAD-UK 17 2577177 2577177 single base substitution A T downstream_gene_variant ESAD-UK 17 2577177 2577177 single base substitution A T exon_variant ESAD-UK 17 2577177 2577177 single base substitution A T intron_variant ESAD-UK 17 2578294 2578294 single base substitution T C downstream_gene_variant ESAD-UK 17 2578294 2578294 single base substitution T C intron_variant ESAD-UK 17 2578294 2578294 single base substitution T C upstream_gene_variant ESAD-UK 17 2579809 2579809 single base substitution G A exon_variant ESAD-UK 17 2579809 2579809 single base substitution G A intron_variant ESAD-UK 17 2579809 2579809 single base substitution G A missense_variant S304N 911G>A ESAD-UK 17 2579809 2579809 single base substitution G A upstream_gene_variant ESAD-UK 17 2580425 2580425 single base substitution C T intron_variant ESAD-UK 17 2580425 2580425 single base substitution C T upstream_gene_variant ESAD-UK 17 2583093 2583093 single base substitution C T exon_variant ESAD-UK 17 2583093 2583093 single base substitution C T intron_variant ESAD-UK 17 2583093 2583093 single base substitution C T upstream_gene_variant ESAD-UK 17 2584724 2584724 single base substitution A T intron_variant ESAD-UK 17 2589189 2589189 single base substitution C T downstream_gene_variant ESAD-UK 17 2589750 2589750 single base substitution C T downstream_gene_variant ESAD-UK 17 2592545 2592545 single base substitution A G downstream_gene_variant KIRC-US 17 2570313 2570313 single base substitution G A 3_prime_UTR_variant KIRC-US 17 2570313 2570313 single base substitution G A downstream_gene_variant KIRC-US 17 2570313 2570313 single base substitution G A exon_variant KIRC-US 17 2570313 2570313 single base substitution G A intron_variant KIRC-US 17 2570313 2570313 single base substitution G A missense_variant E74K 220G>A KIRC-US 17 2570313 2570313 single base substitution G A upstream_gene_variant KIRC-US 17 2577360 2577360 single base substitution T C downstream_gene_variant KIRC-US 17 2577360 2577360 single base substitution T C exon_variant KIRC-US 17 2577360 2577360 single base substitution T C intron_variant KIRC-US 17 2577360 2577360 single base substitution T C synonymous_variant C226C 678T>C KIRC-US 17 2577360 2577360 single base substitution T C synonymous_variant C55C 165T>C KIRC-US 17 2577360 2577360 single base substitution T C synonymous_variant C58C 174T>C LGG-US 17 2569347 2569347 deletion of <=200bp A - 3_prime_UTR_variant LGG-US 17 2569347 2569347 deletion of <=200bp A - exon_variant LGG-US 17 2569347 2569347 deletion of <=200bp A - frameshift_variant E52 LGG-US 17 2569347 2569347 deletion of <=200bp A - intron_variant LGG-US 17 2569347 2569347 deletion of <=200bp A - upstream_gene_variant LGG-US 17 2576020 2576020 single base substitution A G downstream_gene_variant LGG-US 17 2576020 2576020 single base substitution A G exon_variant LGG-US 17 2576020 2576020 single base substitution A G intron_variant LGG-US 17 2576020 2576020 single base substitution A G missense_variant K214E 640A>G LGG-US 17 2576020 2576020 single base substitution A G missense_variant K43E 127A>G LGG-US 17 2576020 2576020 single base substitution A G missense_variant K46E 136A>G LGG-US 17 2576020 2576020 single base substitution A G upstream_gene_variant LICA-FR 17 2509988 2509988 single base substitution A G intron_variant LICA-FR 17 2509988 2509988 single base substitution A G upstream_gene_variant LICA-FR 17 2550140 2550140 single base substitution C A intron_variant LICA-FR 17 2567981 2567988 deletion of <=200bp TCTCTCTT - intron_variant LICA-FR 17 2567981 2567988 deletion of <=200bp TCTCTCTT - upstream_gene_variant LICA-FR 17 2569347 2569347 deletion of <=200bp A - 3_prime_UTR_variant LICA-FR 17 2569347 2569347 deletion of <=200bp A - exon_variant LICA-FR 17 2569347 2569347 deletion of <=200bp A - frameshift_variant E52 LICA-FR 17 2569347 2569347 deletion of <=200bp A - intron_variant LICA-FR 17 2569347 2569347 deletion of <=200bp A - upstream_gene_variant LICA-FR 17 2570374 2570374 single base substitution G A 3_prime_UTR_variant LICA-FR 17 2570374 2570374 single base substitution G A downstream_gene_variant LICA-FR 17 2570374 2570374 single base substitution G A exon_variant LICA-FR 17 2570374 2570374 single base substitution G A intron_variant LICA-FR 17 2570374 2570374 single base substitution G A stop_gained W94* 281G>A LICA-FR 17 2570374 2570374 single base substitution G A upstream_gene_variant LICA-FR 17 2573519 2573519 deletion of <=200bp G - downstream_gene_variant LICA-FR 17 2573519 2573519 deletion of <=200bp G - exon_variant LICA-FR 17 2573519 2573519 deletion of <=200bp G - frameshift_variant Q154 LICA-FR 17 2573519 2573519 deletion of <=200bp G - intron_variant LICA-FR 17 2573519 2573519 deletion of <=200bp G - upstream_gene_variant LICA-FR 17 2579797 2579797 single base substitution A G exon_variant LICA-FR 17 2579797 2579797 single base substitution A G intron_variant LICA-FR 17 2579797 2579797 single base substitution A G splice_acceptor_variant LICA-FR 17 2579797 2579797 single base substitution A G upstream_gene_variant LINC-JP 17 2499439 2499439 single base substitution A G intron_variant LINC-JP 17 2500697 2500697 single base substitution C T intron_variant LINC-JP 17 2500727 2500727 single base substitution G C intron_variant LINC-JP 17 2503228 2503228 single base substitution A G intron_variant LINC-JP 17 2511445 2511445 single base substitution A G intron_variant LINC-JP 17 2511445 2511445 single base substitution A G upstream_gene_variant LINC-JP 17 2513478 2513478 single base substitution A G intron_variant LINC-JP 17 2524868 2524868 single base substitution A G intron_variant LINC-JP 17 2526367 2526367 single base substitution C G intron_variant LINC-JP 17 2527904 2527904 single base substitution A C intron_variant LINC-JP 17 2533992 2533992 single base substitution A G intron_variant LINC-JP 17 2568041 2568041 single base substitution A G intron_variant LINC-JP 17 2568041 2568041 single base substitution A G upstream_gene_variant LINC-JP 17 2572855 2572855 single base substitution A G downstream_gene_variant LINC-JP 17 2572855 2572855 single base substitution A G intron_variant LINC-JP 17 2572855 2572855 single base substitution A G upstream_gene_variant LINC-JP 17 2583808 2583808 insertion of <=200bp - A intron_variant LINC-JP 17 2583808 2583808 insertion of <=200bp - A upstream_gene_variant LIRI-JP 17 2494323 2494323 single base substitution C G upstream_gene_variant LIRI-JP 17 2494504 2494504 single base substitution G C upstream_gene_variant LIRI-JP 17 2494611 2494611 single base substitution A G upstream_gene_variant LIRI-JP 17 2495080 2495080 single base substitution G A upstream_gene_variant LIRI-JP 17 2499204 2499204 single base substitution A G intron_variant LIRI-JP 17 2499398 2499398 single base substitution G T intron_variant LIRI-JP 17 2500055 2500055 single base substitution A G intron_variant LIRI-JP 17 2503518 2503518 single base substitution G T intron_variant LIRI-JP 17 2506295 2506295 single base substitution T G intron_variant LIRI-JP 17 2507388 2507388 single base substitution A G intron_variant LIRI-JP 17 2507976 2507976 single base substitution A G intron_variant LIRI-JP 17 2507976 2507976 single base substitution A G upstream_gene_variant LIRI-JP 17 2508197 2508197 single base substitution G A intron_variant LIRI-JP 17 2508197 2508197 single base substitution G A upstream_gene_variant LIRI-JP 17 2509558 2509558 single base substitution C T intron_variant LIRI-JP 17 2509558 2509558 single base substitution C T upstream_gene_variant LIRI-JP 17 2511001 2511001 single base substitution A G intron_variant LIRI-JP 17 2511001 2511001 single base substitution A G upstream_gene_variant LIRI-JP 17 2511856 2511856 single base substitution G A intron_variant LIRI-JP 17 2511856 2511856 single base substitution G A upstream_gene_variant LIRI-JP 17 2515077 2515077 single base substitution G C intron_variant LIRI-JP 17 2520844 2520844 single base substitution G A intron_variant LIRI-JP 17 2522986 2522986 single base substitution T C intron_variant LIRI-JP 17 2523689 2523689 insertion of <=200bp - A intron_variant LIRI-JP 17 2523787 2523787 single base substitution T C intron_variant LIRI-JP 17 2524855 2524855 single base substitution G T intron_variant LIRI-JP 17 2527856 2527856 single base substitution C A intron_variant LIRI-JP 17 2529216 2529216 single base substitution A G intron_variant LIRI-JP 17 2530038 2530038 single base substitution A G intron_variant LIRI-JP 17 2530549 2530549 single base substitution G T intron_variant LIRI-JP 17 2533819 2533819 single base substitution T G intron_variant LIRI-JP 17 2535592 2535592 single base substitution A G intron_variant LIRI-JP 17 2536506 2536506 single base substitution C T intron_variant LIRI-JP 17 2537842 2537842 single base substitution A G intron_variant LIRI-JP 17 2542540 2542540 single base substitution T C downstream_gene_variant LIRI-JP 17 2542540 2542540 single base substitution T C intron_variant LIRI-JP 17 2542637 2542637 single base substitution T C downstream_gene_variant LIRI-JP 17 2542637 2542637 single base substitution T C intron_variant LIRI-JP 17 2543938 2543938 single base substitution G T downstream_gene_variant LIRI-JP 17 2543938 2543938 single base substitution G T intron_variant LIRI-JP 17 2547819 2547819 single base substitution A C intron_variant LIRI-JP 17 2552953 2552953 single base substitution T C intron_variant LIRI-JP 17 2553021 2553021 single base substitution T A intron_variant LIRI-JP 17 2554949 2554949 single base substitution C T intron_variant LIRI-JP 17 2559463 2559463 single base substitution C G intron_variant LIRI-JP 17 2560030 2560030 single base substitution A G intron_variant LIRI-JP 17 2560632 2560632 single base substitution A G intron_variant LIRI-JP 17 2560813 2560813 single base substitution C T intron_variant LIRI-JP 17 2560920 2560920 single base substitution C G intron_variant LIRI-JP 17 2564252 2564252 single base substitution A G intron_variant LIRI-JP 17 2564252 2564252 single base substitution A G upstream_gene_variant LIRI-JP 17 2565310 2565310 single base substitution G A intron_variant LIRI-JP 17 2565310 2565310 single base substitution G A upstream_gene_variant LIRI-JP 17 2566010 2566010 single base substitution T G intron_variant LIRI-JP 17 2566010 2566010 single base substitution T G upstream_gene_variant LIRI-JP 17 2566853 2566853 single base substitution C G intron_variant LIRI-JP 17 2566853 2566853 single base substitution C G upstream_gene_variant LIRI-JP 17 2567948 2567948 single base substitution A G intron_variant LIRI-JP 17 2567948 2567948 single base substitution A G upstream_gene_variant LIRI-JP 17 2569075 2569075 single base substitution T C intron_variant LIRI-JP 17 2569075 2569075 single base substitution T C upstream_gene_variant LIRI-JP 17 2581174 2581174 single base substitution A T intron_variant LIRI-JP 17 2581174 2581174 single base substitution A T upstream_gene_variant LIRI-JP 17 2586779 2586779 single base substitution G T 3_prime_UTR_variant LIRI-JP 17 2586779 2586779 single base substitution G T downstream_gene_variant LIRI-JP 17 2586779 2586779 single base substitution G T intron_variant LIRI-JP 17 2588389 2588389 single base substitution C T 3_prime_UTR_variant LIRI-JP 17 2588389 2588389 single base substitution C T downstream_gene_variant LIRI-JP 17 2590195 2590195 single base substitution A C downstream_gene_variant LIRI-JP 17 2591651 2591651 single base substitution A C downstream_gene_variant LUSC-KR 17 2492833 2492833 single base substitution C T upstream_gene_variant LUSC-KR 17 2493569 2493569 single base substitution T A upstream_gene_variant LUSC-KR 17 2511613 2511613 single base substitution C T intron_variant LUSC-KR 17 2511613 2511613 single base substitution C T upstream_gene_variant LUSC-KR 17 2515318 2515318 single base substitution A G intron_variant LUSC-KR 17 2516934 2516934 single base substitution T C intron_variant LUSC-KR 17 2517122 2517122 single base substitution G T exon_variant LUSC-KR 17 2517122 2517122 single base substitution G T intron_variant LUSC-KR 17 2549208 2549208 single base substitution A G intron_variant LUSC-KR 17 2558263 2558263 single base substitution A T intron_variant LUSC-KR 17 2559478 2559478 single base substitution A G intron_variant LUSC-KR 17 2561349 2561349 single base substitution G T intron_variant LUSC-KR 17 2567965 2567965 single base substitution T G intron_variant LUSC-KR 17 2567965 2567965 single base substitution T G upstream_gene_variant LUSC-KR 17 2578139 2578139 single base substitution A G downstream_gene_variant LUSC-KR 17 2578139 2578139 single base substitution A G intron_variant LUSC-KR 17 2578139 2578139 single base substitution A G upstream_gene_variant LUSC-KR 17 2580920 2580920 single base substitution G T intron_variant LUSC-KR 17 2580920 2580920 single base substitution G T upstream_gene_variant LUSC-KR 17 2582547 2582547 single base substitution C G intron_variant LUSC-KR 17 2582547 2582547 single base substitution C G upstream_gene_variant LUSC-KR 17 2588137 2588137 single base substitution G A 3_prime_UTR_variant LUSC-KR 17 2588137 2588137 single base substitution G A downstream_gene_variant LUSC-US 17 2541586 2541586 single base substitution G T exon_variant LUSC-US 17 2541586 2541586 single base substitution G T intron_variant LUSC-US 17 2541586 2541586 single base substitution G T missense_variant V2L 4G>T MALY-DE 17 2494390 2494390 single base substitution T A upstream_gene_variant MALY-DE 17 2505694 2505694 single base substitution A G intron_variant MALY-DE 17 2515620 2515620 single base substitution C T intron_variant MALY-DE 17 2528076 2528076 single base substitution A T intron_variant MALY-DE 17 2529712 2529712 single base substitution T G intron_variant MALY-DE 17 2529776 2529776 single base substitution T C intron_variant MALY-DE 17 2536799 2536799 single base substitution T A intron_variant MALY-DE 17 2540277 2540277 single base substitution A C intron_variant MALY-DE 17 2546163 2546163 single base substitution T C downstream_gene_variant MALY-DE 17 2546163 2546163 single base substitution T C intron_variant MALY-DE 17 2547519 2547519 single base substitution A C intron_variant MALY-DE 17 2553491 2553491 single base substitution T G intron_variant MALY-DE 17 2567102 2567102 single base substitution C A intron_variant MALY-DE 17 2567102 2567102 single base substitution C A upstream_gene_variant MALY-DE 17 2570553 2570553 single base substitution G A downstream_gene_variant MALY-DE 17 2570553 2570553 single base substitution G A intron_variant MALY-DE 17 2570553 2570553 single base substitution G A upstream_gene_variant MALY-DE 17 2578298 2578298 single base substitution A C downstream_gene_variant MALY-DE 17 2578298 2578298 single base substitution A C intron_variant MALY-DE 17 2578298 2578298 single base substitution A C upstream_gene_variant MALY-DE 17 2580262 2580262 single base substitution T A intron_variant MALY-DE 17 2580262 2580262 single base substitution T A upstream_gene_variant MALY-DE 17 2585221 2585221 single base substitution T G 3_prime_UTR_variant MALY-DE 17 2585221 2585221 single base substitution T G downstream_gene_variant MALY-DE 17 2585221 2585221 single base substitution T G exon_variant MALY-DE 17 2585221 2585221 single base substitution T G intron_variant MALY-DE 17 2588644 2588644 single base substitution C A 3_prime_UTR_variant MALY-DE 17 2588644 2588644 single base substitution C A downstream_gene_variant MELA-AU 17 2491652 2491652 single base substitution C T upstream_gene_variant MELA-AU 17 2491857 2491857 single base substitution C G upstream_gene_variant MELA-AU 17 2492039 2492039 single base substitution G A upstream_gene_variant MELA-AU 17 2492154 2492154 single base substitution G A upstream_gene_variant MELA-AU 17 2492281 2492281 single base substitution A G upstream_gene_variant MELA-AU 17 2492364 2492364 single base substitution G A upstream_gene_variant MELA-AU 17 2492774 2492774 single base substitution C T upstream_gene_variant MELA-AU 17 2493195 2493195 single base substitution G A upstream_gene_variant MELA-AU 17 2493406 2493406 single base substitution C A upstream_gene_variant MELA-AU 17 2494596 2494596 single base substitution C T upstream_gene_variant MELA-AU 17 2494798 2494798 single base substitution C T upstream_gene_variant MELA-AU 17 2495129 2495129 single base substitution G A upstream_gene_variant MELA-AU 17 2495351 2495351 single base substitution G A upstream_gene_variant MELA-AU 17 2495432 2495432 single base substitution C T upstream_gene_variant MELA-AU 17 2495673 2495673 single base substitution C T upstream_gene_variant MELA-AU 17 2495966 2495966 single base substitution G A upstream_gene_variant MELA-AU 17 2495989 2495989 single base substitution C T upstream_gene_variant MELA-AU 17 2496242 2496242 single base substitution C T upstream_gene_variant MELA-AU 17 2496781 2496781 single base substitution C T intron_variant MELA-AU 17 2496781 2496781 single base substitution C T upstream_gene_variant MELA-AU 17 2497964 2497964 single base substitution C T intron_variant MELA-AU 17 2498439 2498439 single base substitution C T intron_variant MELA-AU 17 2499428 2499428 single base substitution C T intron_variant MELA-AU 17 2499937 2499937 single base substitution C T intron_variant MELA-AU 17 2500032 2500032 single base substitution C T intron_variant MELA-AU 17 2502255 2502255 single base substitution T C intron_variant MELA-AU 17 2502791 2502791 single base substitution C T intron_variant MELA-AU 17 2502965 2502965 single base substitution C T intron_variant MELA-AU 17 2503965 2503965 single base substitution A C intron_variant MELA-AU 17 2504108 2504108 single base substitution C T intron_variant MELA-AU 17 2504394 2504394 single base substitution T C intron_variant MELA-AU 17 2504458 2504458 single base substitution C T intron_variant MELA-AU 17 2504684 2504684 single base substitution C T intron_variant MELA-AU 17 2504691 2504691 single base substitution T G intron_variant MELA-AU 17 2505231 2505231 single base substitution G T intron_variant MELA-AU 17 2507359 2507359 single base substitution G A intron_variant MELA-AU 17 2508845 2508845 single base substitution C T intron_variant MELA-AU 17 2508845 2508845 single base substitution C T upstream_gene_variant MELA-AU 17 2509240 2509240 single base substitution C T intron_variant MELA-AU 17 2509240 2509240 single base substitution C T upstream_gene_variant MELA-AU 17 2509348 2509348 single base substitution C T intron_variant MELA-AU 17 2509348 2509348 single base substitution C T upstream_gene_variant MELA-AU 17 2509524 2509524 single base substitution C T intron_variant MELA-AU 17 2509524 2509524 single base substitution C T upstream_gene_variant MELA-AU 17 2509635 2509635 single base substitution G A intron_variant MELA-AU 17 2509635 2509635 single base substitution G A upstream_gene_variant MELA-AU 17 2510144 2510144 single base substitution C T intron_variant MELA-AU 17 2510144 2510144 single base substitution C T upstream_gene_variant MELA-AU 17 2510726 2510726 single base substitution C T intron_variant MELA-AU 17 2510726 2510726 single base substitution C T upstream_gene_variant MELA-AU 17 2512422 2512422 single base substitution C T intron_variant MELA-AU 17 2512422 2512422 single base substitution C T upstream_gene_variant MELA-AU 17 2512423 2512423 single base substitution C T intron_variant MELA-AU 17 2512423 2512423 single base substitution C T upstream_gene_variant MELA-AU 17 2513480 2513481 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 2514252 2514252 single base substitution C T intron_variant MELA-AU 17 2514437 2514437 single base substitution C T intron_variant MELA-AU 17 2516255 2516255 single base substitution C T intron_variant MELA-AU 17 2516435 2516435 single base substitution C T intron_variant MELA-AU 17 2516906 2516906 single base substitution C T intron_variant MELA-AU 17 2518607 2518607 single base substitution C T intron_variant MELA-AU 17 2519042 2519042 single base substitution C T intron_variant MELA-AU 17 2519119 2519119 single base substitution C T intron_variant MELA-AU 17 2519125 2519125 single base substitution A T intron_variant MELA-AU 17 2519509 2519509 single base substitution C T intron_variant MELA-AU 17 2520217 2520217 single base substitution A T intron_variant MELA-AU 17 2520325 2520325 single base substitution C T intron_variant MELA-AU 17 2520754 2520754 single base substitution T C intron_variant MELA-AU 17 2520880 2520881 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 2521239 2521239 single base substitution T A intron_variant MELA-AU 17 2521610 2521610 single base substitution C T intron_variant MELA-AU 17 2521805 2521805 single base substitution C T intron_variant MELA-AU 17 2521836 2521836 single base substitution C T intron_variant MELA-AU 17 2522547 2522547 single base substitution G A intron_variant MELA-AU 17 2522772 2522772 single base substitution C T intron_variant MELA-AU 17 2522787 2522787 single base substitution T C intron_variant MELA-AU 17 2525124 2525124 single base substitution C T intron_variant MELA-AU 17 2525481 2525481 single base substitution C T intron_variant MELA-AU 17 2526062 2526062 single base substitution C T intron_variant MELA-AU 17 2526637 2526637 single base substitution C T intron_variant MELA-AU 17 2526677 2526677 single base substitution C T intron_variant MELA-AU 17 2527451 2527452 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 2528724 2528724 single base substitution C T intron_variant MELA-AU 17 2529573 2529573 single base substitution C T intron_variant MELA-AU 17 2529798 2529805 deletion of <=200bp TACTCAGG - intron_variant MELA-AU 17 2529940 2529940 single base substitution C T intron_variant MELA-AU 17 2530088 2530088 single base substitution C T intron_variant MELA-AU 17 2530229 2530230 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 2530534 2530534 single base substitution C T intron_variant MELA-AU 17 2531176 2531176 single base substitution T C intron_variant MELA-AU 17 2531647 2531647 single base substitution C T intron_variant MELA-AU 17 2532198 2532198 single base substitution C T intron_variant MELA-AU 17 2533793 2533793 single base substitution C T intron_variant MELA-AU 17 2533909 2533909 single base substitution C G intron_variant MELA-AU 17 2533909 2533909 single base substitution C T intron_variant MELA-AU 17 2534082 2534082 single base substitution A G intron_variant MELA-AU 17 2534417 2534417 single base substitution C T intron_variant MELA-AU 17 2534756 2534756 single base substitution C T intron_variant MELA-AU 17 2536452 2536452 single base substitution T A intron_variant MELA-AU 17 2537290 2537290 single base substitution C T intron_variant MELA-AU 17 2539278 2539278 single base substitution T C intron_variant MELA-AU 17 2539333 2539333 single base substitution G A intron_variant MELA-AU 17 2540133 2540134 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 2541175 2541175 single base substitution A T intron_variant MELA-AU 17 2541531 2541531 single base substitution C T 5_prime_UTR_variant MELA-AU 17 2541531 2541531 single base substitution C T exon_variant MELA-AU 17 2541531 2541531 single base substitution C T intron_variant MELA-AU 17 2542592 2542592 single base substitution G A downstream_gene_variant MELA-AU 17 2542592 2542592 single base substitution G A intron_variant MELA-AU 17 2543378 2543378 single base substitution A T downstream_gene_variant MELA-AU 17 2543378 2543378 single base substitution A T intron_variant MELA-AU 17 2544930 2544930 single base substitution A G downstream_gene_variant MELA-AU 17 2544930 2544930 single base substitution A G intron_variant MELA-AU 17 2545801 2545801 single base substitution C T downstream_gene_variant MELA-AU 17 2545801 2545801 single base substitution C T intron_variant MELA-AU 17 2546563 2546563 single base substitution T A downstream_gene_variant MELA-AU 17 2546563 2546563 single base substitution T A intron_variant MELA-AU 17 2546565 2546565 single base substitution C T downstream_gene_variant MELA-AU 17 2546565 2546565 single base substitution C T intron_variant MELA-AU 17 2546586 2546586 single base substitution C T downstream_gene_variant MELA-AU 17 2546586 2546586 single base substitution C T intron_variant MELA-AU 17 2546784 2546784 single base substitution A G downstream_gene_variant MELA-AU 17 2546784 2546784 single base substitution A G intron_variant MELA-AU 17 2546863 2546863 single base substitution C T downstream_gene_variant MELA-AU 17 2546863 2546863 single base substitution C T intron_variant MELA-AU 17 2548356 2548356 single base substitution C T intron_variant MELA-AU 17 2548627 2548627 single base substitution C T intron_variant MELA-AU 17 2548903 2548903 single base substitution A T intron_variant MELA-AU 17 2548996 2548996 single base substitution C T intron_variant MELA-AU 17 2549257 2549257 single base substitution G T intron_variant MELA-AU 17 2549899 2549899 single base substitution T C intron_variant MELA-AU 17 2550526 2550526 single base substitution C T intron_variant MELA-AU 17 2551297 2551300 deletion of <=200bp AAAT - intron_variant MELA-AU 17 2552740 2552740 single base substitution C T intron_variant MELA-AU 17 2552947 2552947 single base substitution C T intron_variant MELA-AU 17 2554462 2554462 single base substitution C T intron_variant MELA-AU 17 2554872 2554872 single base substitution C T intron_variant MELA-AU 17 2554883 2554883 single base substitution A C intron_variant MELA-AU 17 2555237 2555237 single base substitution C T intron_variant MELA-AU 17 2555702 2555702 single base substitution C T intron_variant MELA-AU 17 2555904 2555904 single base substitution C T intron_variant MELA-AU 17 2557171 2557171 single base substitution C T intron_variant MELA-AU 17 2557777 2557777 single base substitution C T intron_variant MELA-AU 17 2558976 2558976 single base substitution C T intron_variant MELA-AU 17 2561791 2561791 single base substitution T A intron_variant MELA-AU 17 2562437 2562437 single base substitution C T intron_variant MELA-AU 17 2562534 2562534 single base substitution C T intron_variant MELA-AU 17 2562664 2562664 single base substitution C T intron_variant MELA-AU 17 2562797 2562797 single base substitution G A intron_variant MELA-AU 17 2563122 2563122 single base substitution C T intron_variant MELA-AU 17 2563230 2563230 single base substitution A G intron_variant MELA-AU 17 2563532 2563532 single base substitution T A intron_variant MELA-AU 17 2563605 2563605 single base substitution C T intron_variant MELA-AU 17 2563612 2563612 single base substitution G A intron_variant MELA-AU 17 2563882 2563882 single base substitution C T intron_variant MELA-AU 17 2563882 2563882 single base substitution C T upstream_gene_variant MELA-AU 17 2563883 2563883 single base substitution C T intron_variant MELA-AU 17 2563883 2563883 single base substitution C T upstream_gene_variant MELA-AU 17 2565044 2565045 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 2565044 2565045 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 2565819 2565819 single base substitution T C intron_variant MELA-AU 17 2565819 2565819 single base substitution T C upstream_gene_variant MELA-AU 17 2567898 2567898 single base substitution C T intron_variant MELA-AU 17 2567898 2567898 single base substitution C T upstream_gene_variant MELA-AU 17 2568521 2568521 single base substitution C T intron_variant MELA-AU 17 2568521 2568521 single base substitution C T upstream_gene_variant MELA-AU 17 2568621 2568621 single base substitution G A intron_variant MELA-AU 17 2568621 2568621 single base substitution G A upstream_gene_variant MELA-AU 17 2568691 2568691 single base substitution C T exon_variant MELA-AU 17 2568691 2568691 single base substitution C T intron_variant MELA-AU 17 2568691 2568691 single base substitution C T missense_variant R20C 58C>T MELA-AU 17 2568691 2568691 single base substitution C T upstream_gene_variant MELA-AU 17 2569086 2569086 single base substitution G A intron_variant MELA-AU 17 2569086 2569086 single base substitution G A upstream_gene_variant MELA-AU 17 2569092 2569092 single base substitution C T intron_variant MELA-AU 17 2569092 2569092 single base substitution C T upstream_gene_variant MELA-AU 17 2570134 2570134 insertion of <=200bp - T downstream_gene_variant MELA-AU 17 2570134 2570134 insertion of <=200bp - T intron_variant MELA-AU 17 2570134 2570134 insertion of <=200bp - T upstream_gene_variant MELA-AU 17 2570217 2570217 deletion of <=200bp G - downstream_gene_variant MELA-AU 17 2570217 2570217 deletion of <=200bp G - intron_variant MELA-AU 17 2570217 2570217 deletion of <=200bp G - upstream_gene_variant MELA-AU 17 2570333 2570333 single base substitution G A 3_prime_UTR_variant MELA-AU 17 2570333 2570333 single base substitution G A downstream_gene_variant MELA-AU 17 2570333 2570333 single base substitution G A exon_variant MELA-AU 17 2570333 2570333 single base substitution G A intron_variant MELA-AU 17 2570333 2570333 single base substitution G A synonymous_variant T80T 240G>A MELA-AU 17 2570333 2570333 single base substitution G A upstream_gene_variant MELA-AU 17 2570380 2570380 single base substitution C T 3_prime_UTR_variant MELA-AU 17 2570380 2570380 single base substitution C T downstream_gene_variant MELA-AU 17 2570380 2570380 single base substitution C T exon_variant MELA-AU 17 2570380 2570380 single base substitution C T intron_variant MELA-AU 17 2570380 2570380 single base substitution C T missense_variant P96L 287C>T MELA-AU 17 2570380 2570380 single base substitution C T upstream_gene_variant MELA-AU 17 2571327 2571327 single base substitution A C downstream_gene_variant MELA-AU 17 2571327 2571327 single base substitution A C intron_variant MELA-AU 17 2571327 2571327 single base substitution A C upstream_gene_variant MELA-AU 17 2571368 2571368 single base substitution C T downstream_gene_variant MELA-AU 17 2571368 2571368 single base substitution C T intron_variant MELA-AU 17 2571368 2571368 single base substitution C T upstream_gene_variant MELA-AU 17 2572848 2572848 single base substitution C T downstream_gene_variant MELA-AU 17 2572848 2572848 single base substitution C T intron_variant MELA-AU 17 2572848 2572848 single base substitution C T upstream_gene_variant MELA-AU 17 2573951 2573951 single base substitution C T downstream_gene_variant MELA-AU 17 2573951 2573951 single base substitution C T intron_variant MELA-AU 17 2573951 2573951 single base substitution C T upstream_gene_variant MELA-AU 17 2574670 2574670 single base substitution T C downstream_gene_variant MELA-AU 17 2574670 2574670 single base substitution T C intron_variant MELA-AU 17 2574670 2574670 single base substitution T C upstream_gene_variant MELA-AU 17 2575612 2575612 single base substitution C T downstream_gene_variant MELA-AU 17 2575612 2575612 single base substitution C T intron_variant MELA-AU 17 2575612 2575612 single base substitution C T upstream_gene_variant MELA-AU 17 2575613 2575613 single base substitution C T downstream_gene_variant MELA-AU 17 2575613 2575613 single base substitution C T intron_variant MELA-AU 17 2575613 2575613 single base substitution C T upstream_gene_variant MELA-AU 17 2575622 2575622 single base substitution C T downstream_gene_variant MELA-AU 17 2575622 2575622 single base substitution C T intron_variant MELA-AU 17 2575622 2575622 single base substitution C T upstream_gene_variant MELA-AU 17 2575750 2575750 single base substitution C T downstream_gene_variant MELA-AU 17 2575750 2575750 single base substitution C T intron_variant MELA-AU 17 2575750 2575750 single base substitution C T upstream_gene_variant MELA-AU 17 2576276 2576276 single base substitution C A downstream_gene_variant MELA-AU 17 2576276 2576276 single base substitution C A intron_variant MELA-AU 17 2576276 2576276 single base substitution C A upstream_gene_variant MELA-AU 17 2578104 2578104 single base substitution C T downstream_gene_variant MELA-AU 17 2578104 2578104 single base substitution C T intron_variant MELA-AU 17 2578104 2578104 single base substitution C T upstream_gene_variant MELA-AU 17 2578261 2578261 single base substitution C T downstream_gene_variant MELA-AU 17 2578261 2578261 single base substitution C T intron_variant MELA-AU 17 2578261 2578261 single base substitution C T upstream_gene_variant MELA-AU 17 2578491 2578491 single base substitution T G downstream_gene_variant MELA-AU 17 2578491 2578491 single base substitution T G intron_variant MELA-AU 17 2578491 2578491 single base substitution T G upstream_gene_variant MELA-AU 17 2579250 2579250 single base substitution T A intron_variant MELA-AU 17 2579250 2579250 single base substitution T A upstream_gene_variant MELA-AU 17 2579257 2579257 single base substitution C T intron_variant MELA-AU 17 2579257 2579257 single base substitution C T upstream_gene_variant MELA-AU 17 2579435 2579435 single base substitution A G intron_variant MELA-AU 17 2579435 2579435 single base substitution A G upstream_gene_variant MELA-AU 17 2579959 2579959 single base substitution T G intron_variant MELA-AU 17 2579959 2579959 single base substitution T G upstream_gene_variant MELA-AU 17 2580033 2580033 single base substitution C T intron_variant MELA-AU 17 2580033 2580033 single base substitution C T upstream_gene_variant MELA-AU 17 2580174 2580174 single base substitution C T intron_variant MELA-AU 17 2580174 2580174 single base substitution C T upstream_gene_variant MELA-AU 17 2580272 2580272 single base substitution C T intron_variant MELA-AU 17 2580272 2580272 single base substitution C T upstream_gene_variant MELA-AU 17 2580546 2580546 single base substitution C T intron_variant MELA-AU 17 2580546 2580546 single base substitution C T upstream_gene_variant MELA-AU 17 2580897 2580897 single base substitution C T intron_variant MELA-AU 17 2580897 2580897 single base substitution C T upstream_gene_variant MELA-AU 17 2581174 2581174 single base substitution A T intron_variant MELA-AU 17 2581174 2581174 single base substitution A T upstream_gene_variant MELA-AU 17 2581348 2581348 single base substitution C T intron_variant MELA-AU 17 2581348 2581348 single base substitution C T upstream_gene_variant MELA-AU 17 2581493 2581493 single base substitution C T intron_variant MELA-AU 17 2581493 2581493 single base substitution C T upstream_gene_variant MELA-AU 17 2582133 2582133 single base substitution C T intron_variant MELA-AU 17 2582133 2582133 single base substitution C T upstream_gene_variant MELA-AU 17 2583502 2583502 single base substitution G A exon_variant MELA-AU 17 2583502 2583502 single base substitution G A intron_variant MELA-AU 17 2583502 2583502 single base substitution G A synonymous_variant G144G 432G>A MELA-AU 17 2583502 2583502 single base substitution G A synonymous_variant G147G 441G>A MELA-AU 17 2583502 2583502 single base substitution G A synonymous_variant G349G 1047G>A MELA-AU 17 2583502 2583502 single base substitution G A upstream_gene_variant MELA-AU 17 2583804 2583804 single base substitution C T intron_variant MELA-AU 17 2583804 2583804 single base substitution C T upstream_gene_variant MELA-AU 17 2584315 2584315 single base substitution T C exon_variant MELA-AU 17 2584315 2584315 single base substitution T C intron_variant MELA-AU 17 2585041 2585041 single base substitution C T downstream_gene_variant MELA-AU 17 2585041 2585041 single base substitution C T exon_variant MELA-AU 17 2585041 2585041 single base substitution C T intron_variant MELA-AU 17 2585041 2585041 single base substitution C T missense_variant P188L 563C>T MELA-AU 17 2585041 2585041 single base substitution C T missense_variant P191L 572C>T MELA-AU 17 2585041 2585041 single base substitution C T missense_variant P393L 1178C>T MELA-AU 17 2585129 2585129 single base substitution C T 3_prime_UTR_variant MELA-AU 17 2585129 2585129 single base substitution C T downstream_gene_variant MELA-AU 17 2585129 2585129 single base substitution C T exon_variant MELA-AU 17 2585129 2585129 single base substitution C T intron_variant MELA-AU 17 2585153 2585153 single base substitution C T 3_prime_UTR_variant MELA-AU 17 2585153 2585153 single base substitution C T downstream_gene_variant MELA-AU 17 2585153 2585153 single base substitution C T exon_variant MELA-AU 17 2585153 2585153 single base substitution C T intron_variant MELA-AU 17 2586288 2586288 single base substitution G T 3_prime_UTR_variant MELA-AU 17 2586288 2586288 single base substitution G T downstream_gene_variant MELA-AU 17 2586288 2586288 single base substitution G T intron_variant MELA-AU 17 2587014 2587014 single base substitution C T 3_prime_UTR_variant MELA-AU 17 2587014 2587014 single base substitution C T downstream_gene_variant MELA-AU 17 2587014 2587014 single base substitution C T intron_variant MELA-AU 17 2587304 2587304 single base substitution G C 3_prime_UTR_variant MELA-AU 17 2587304 2587304 single base substitution G C downstream_gene_variant MELA-AU 17 2587304 2587304 single base substitution G C exon_variant MELA-AU 17 2587349 2587349 single base substitution G A 3_prime_UTR_variant MELA-AU 17 2587349 2587349 single base substitution G A downstream_gene_variant MELA-AU 17 2587349 2587349 single base substitution G A exon_variant MELA-AU 17 2587542 2587542 single base substitution C T 3_prime_UTR_variant MELA-AU 17 2587542 2587542 single base substitution C T downstream_gene_variant MELA-AU 17 2587542 2587542 single base substitution C T exon_variant MELA-AU 17 2588177 2588177 single base substitution C T 3_prime_UTR_variant MELA-AU 17 2588177 2588177 single base substitution C T downstream_gene_variant MELA-AU 17 2588205 2588205 single base substitution C T 3_prime_UTR_variant MELA-AU 17 2588205 2588205 single base substitution C T downstream_gene_variant MELA-AU 17 2589092 2589092 single base substitution C G downstream_gene_variant MELA-AU 17 2589323 2589323 single base substitution C T downstream_gene_variant MELA-AU 17 2589403 2589403 single base substitution C T downstream_gene_variant MELA-AU 17 2589652 2589652 single base substitution C T downstream_gene_variant MELA-AU 17 2591369 2591369 single base substitution C T downstream_gene_variant MELA-AU 17 2592429 2592429 single base substitution C T downstream_gene_variant MELA-AU 17 2592799 2592800 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant ORCA-IN 17 2505393 2505393 single base substitution C G intron_variant ORCA-IN 17 2549804 2549804 single base substitution G A intron_variant OV-AU 17 2493197 2493197 single base substitution G A upstream_gene_variant OV-AU 17 2499324 2499324 single base substitution G C intron_variant OV-AU 17 2503553 2503553 single base substitution A T intron_variant OV-AU 17 2530485 2530485 single base substitution T C intron_variant OV-AU 17 2536675 2536675 single base substitution T C intron_variant OV-AU 17 2538197 2538197 single base substitution C A intron_variant OV-AU 17 2540229 2540229 single base substitution G A intron_variant OV-AU 17 2548505 2548505 single base substitution C T intron_variant OV-AU 17 2554562 2554562 single base substitution T C intron_variant OV-AU 17 2560546 2560546 single base substitution C A intron_variant OV-AU 17 2565050 2565050 single base substitution C T intron_variant OV-AU 17 2565050 2565050 single base substitution C T upstream_gene_variant OV-AU 17 2571177 2571177 single base substitution G A downstream_gene_variant OV-AU 17 2571177 2571177 single base substitution G A intron_variant OV-AU 17 2571177 2571177 single base substitution G A upstream_gene_variant OV-AU 17 2582340 2582340 single base substitution G A intron_variant OV-AU 17 2582340 2582340 single base substitution G A upstream_gene_variant OV-AU 17 2589327 2589327 single base substitution G C downstream_gene_variant OV-AU 17 2591622 2591622 single base substitution C T downstream_gene_variant PACA-AU 17 2499478 2499478 single base substitution G A intron_variant PACA-AU 17 2524484 2524484 single base substitution C A intron_variant PACA-AU 17 2532913 2532913 single base substitution A T intron_variant PACA-AU 17 2535051 2535051 single base substitution G T intron_variant PACA-AU 17 2535069 2535069 single base substitution C A intron_variant PACA-AU 17 2535070 2535070 single base substitution A T intron_variant PACA-AU 17 2535887 2535887 single base substitution C T intron_variant PACA-AU 17 2541526 2541526 single base substitution G T 5_prime_UTR_variant PACA-AU 17 2541526 2541526 single base substitution G T exon_variant PACA-AU 17 2541526 2541526 single base substitution G T intron_variant PACA-AU 17 2556376 2556376 single base substitution A G intron_variant PACA-AU 17 2558473 2558474 deletion of <=200bp AT - intron_variant PACA-AU 17 2558477 2558477 single base substitution A G intron_variant PACA-AU 17 2560352 2560361 deletion of <=200bp TAAGTAATAG - intron_variant PACA-AU 17 2565100 2565100 single base substitution C T intron_variant PACA-AU 17 2565100 2565100 single base substitution C T upstream_gene_variant PACA-AU 17 2566064 2566064 single base substitution T C intron_variant PACA-AU 17 2566064 2566064 single base substitution T C upstream_gene_variant PACA-AU 17 2566993 2566993 single base substitution G T intron_variant PACA-AU 17 2566993 2566993 single base substitution G T upstream_gene_variant PACA-AU 17 2566994 2566994 single base substitution G T intron_variant PACA-AU 17 2566994 2566994 single base substitution G T upstream_gene_variant PACA-AU 17 2569268 2569268 single base substitution A C intron_variant PACA-AU 17 2569268 2569268 single base substitution A C upstream_gene_variant PACA-AU 17 2573011 2573011 single base substitution A C downstream_gene_variant PACA-AU 17 2573011 2573011 single base substitution A C intron_variant PACA-AU 17 2573011 2573011 single base substitution A C upstream_gene_variant PACA-AU 17 2577024 2577034 deletion of <=200bp TAGTACAAAGT - downstream_gene_variant PACA-AU 17 2577024 2577034 deletion of <=200bp TAGTACAAAGT - exon_variant PACA-AU 17 2577024 2577034 deletion of <=200bp TAGTACAAAGT - intron_variant PACA-AU 17 2584394 2584394 single base substitution A T exon_variant PACA-AU 17 2584394 2584394 single base substitution A T intron_variant PACA-AU 17 2591371 2591371 single base substitution G A downstream_gene_variant PACA-CA 17 2492104 2492104 single base substitution C A upstream_gene_variant PACA-CA 17 2492632 2492632 single base substitution C T upstream_gene_variant PACA-CA 17 2492830 2492830 single base substitution C G upstream_gene_variant PACA-CA 17 2495843 2495843 single base substitution G A upstream_gene_variant PACA-CA 17 2496267 2496267 single base substitution T C upstream_gene_variant PACA-CA 17 2496269 2496269 single base substitution C T upstream_gene_variant PACA-CA 17 2496470 2496470 deletion of <=200bp C - upstream_gene_variant PACA-CA 17 2497734 2497734 single base substitution G A intron_variant PACA-CA 17 2499478 2499478 single base substitution G A intron_variant PACA-CA 17 2501012 2501012 insertion of <=200bp - T intron_variant PACA-CA 17 2504109 2504109 single base substitution C T intron_variant PACA-CA 17 2505194 2505194 single base substitution A C intron_variant PACA-CA 17 2506229 2506229 single base substitution C G intron_variant PACA-CA 17 2511395 2511395 single base substitution G T intron_variant PACA-CA 17 2511395 2511395 single base substitution G T upstream_gene_variant PACA-CA 17 2513934 2513934 deletion of <=200bp A - intron_variant PACA-CA 17 2515382 2515382 single base substitution C T intron_variant PACA-CA 17 2518907 2518907 single base substitution C G intron_variant PACA-CA 17 2524290 2524290 single base substitution C A intron_variant PACA-CA 17 2547099 2547099 single base substitution C T intron_variant PACA-CA 17 2556952 2556952 single base substitution C A intron_variant PACA-CA 17 2560636 2560636 single base substitution T G intron_variant PACA-CA 17 2571568 2571568 single base substitution A C downstream_gene_variant PACA-CA 17 2571568 2571568 single base substitution A C intron_variant PACA-CA 17 2571568 2571568 single base substitution A C upstream_gene_variant PACA-CA 17 2571701 2571701 single base substitution C T downstream_gene_variant PACA-CA 17 2571701 2571701 single base substitution C T intron_variant PACA-CA 17 2571701 2571701 single base substitution C T upstream_gene_variant PACA-CA 17 2573896 2573896 single base substitution G C downstream_gene_variant PACA-CA 17 2573896 2573896 single base substitution G C intron_variant PACA-CA 17 2573896 2573896 single base substitution G C upstream_gene_variant PACA-CA 17 2578382 2578382 single base substitution G A downstream_gene_variant PACA-CA 17 2578382 2578382 single base substitution G A intron_variant PACA-CA 17 2578382 2578382 single base substitution G A upstream_gene_variant PACA-CA 17 2579706 2579706 single base substitution T A exon_variant PACA-CA 17 2579706 2579706 single base substitution T A intron_variant PACA-CA 17 2579706 2579706 single base substitution T A upstream_gene_variant PACA-CA 17 2582904 2582904 single base substitution A G intron_variant PACA-CA 17 2582904 2582904 single base substitution A G upstream_gene_variant PACA-CA 17 2588050 2588050 single base substitution T G 3_prime_UTR_variant PACA-CA 17 2588050 2588050 single base substitution T G downstream_gene_variant PACA-CA 17 2588405 2588405 single base substitution G T 3_prime_UTR_variant PACA-CA 17 2588405 2588405 single base substitution G T downstream_gene_variant PACA-CA 17 2588845 2588845 single base substitution T A 3_prime_UTR_variant PACA-CA 17 2588845 2588845 single base substitution T A downstream_gene_variant PACA-CA 17 2589958 2589958 single base substitution G A downstream_gene_variant PACA-CA 17 2590039 2590043 deletion of <=200bp AAAAC - downstream_gene_variant PACA-CA 17 2591117 2591117 single base substitution C A downstream_gene_variant PACA-CA 17 2593113 2593113 single base substitution C A downstream_gene_variant PAEN-AU 17 2518407 2518407 single base substitution T C intron_variant PAEN-AU 17 2591965 2591965 single base substitution C T downstream_gene_variant PAEN-IT 17 2537339 2537339 single base substitution G T intron_variant PAEN-IT 17 2568688 2568688 single base substitution C G exon_variant PAEN-IT 17 2568688 2568688 single base substitution C G intron_variant PAEN-IT 17 2568688 2568688 single base substitution C G missense_variant L19V 55C>G PAEN-IT 17 2568688 2568688 single base substitution C G upstream_gene_variant PBCA-DE 17 2501076 2501077 deletion of <=200bp GT - intron_variant PBCA-DE 17 2509665 2509665 deletion of <=200bp T - intron_variant PBCA-DE 17 2509665 2509665 deletion of <=200bp T - upstream_gene_variant PBCA-DE 17 2513187 2513187 single base substitution C T intron_variant PBCA-DE 17 2522842 2522842 insertion of <=200bp - T intron_variant PBCA-DE 17 2528827 2528827 single base substitution A T intron_variant PBCA-DE 17 2529855 2529855 single base substitution C G intron_variant PBCA-DE 17 2539706 2539706 single base substitution C T intron_variant PBCA-DE 17 2556967 2556967 single base substitution C T intron_variant PBCA-DE 17 2558478 2558479 deletion of <=200bp TG - intron_variant PBCA-DE 17 2572380 2572380 deletion of <=200bp A - downstream_gene_variant PBCA-DE 17 2572380 2572380 deletion of <=200bp A - intron_variant PBCA-DE 17 2572380 2572380 deletion of <=200bp A - upstream_gene_variant PBCA-DE 17 2575739 2575760 deletion of <=200bp GTTGACTATTTCCTTGTGGGTT - downstream_gene_variant PBCA-DE 17 2575739 2575760 deletion of <=200bp GTTGACTATTTCCTTGTGGGTT - intron_variant PBCA-DE 17 2575739 2575760 deletion of <=200bp GTTGACTATTTCCTTGTGGGTT - upstream_gene_variant PBCA-DE 17 2578795 2578795 single base substitution G A intron_variant PBCA-DE 17 2578795 2578795 single base substitution G A upstream_gene_variant PBCA-DE 17 2589302 2589306 deletion of <=200bp GCGGT - downstream_gene_variant PRAD-CA 17 2507081 2507081 single base substitution C G intron_variant PRAD-CA 17 2564431 2564431 single base substitution T G intron_variant PRAD-CA 17 2564431 2564431 single base substitution T G upstream_gene_variant PRAD-CA 17 2567963 2567963 single base substitution T G intron_variant PRAD-CA 17 2567963 2567963 single base substitution T G upstream_gene_variant PRAD-CA 17 2582819 2582819 single base substitution A G intron_variant PRAD-CA 17 2582819 2582819 single base substitution A G upstream_gene_variant PRAD-CA 17 2582904 2582904 single base substitution A G intron_variant PRAD-CA 17 2582904 2582904 single base substitution A G upstream_gene_variant PRAD-UK 17 2496566 2496566 single base substitution C A 5_prime_UTR_variant PRAD-UK 17 2496566 2496566 single base substitution C A upstream_gene_variant PRAD-UK 17 2514945 2514979 deletion of <=200bp CTTACTTTTTCTTTTGAATTTTAAAAAAGAAGAGT - intron_variant PRAD-UK 17 2528501 2528501 single base substitution G T intron_variant PRAD-UK 17 2554414 2554414 single base substitution G A intron_variant PRAD-UK 17 2566468 2566468 single base substitution A C intron_variant PRAD-UK 17 2566468 2566468 single base substitution A C upstream_gene_variant PRAD-UK 17 2568027 2568027 single base substitution C T intron_variant PRAD-UK 17 2568027 2568027 single base substitution C T upstream_gene_variant PRAD-UK 17 2576567 2576567 single base substitution C A downstream_gene_variant PRAD-UK 17 2576567 2576567 single base substitution C A intron_variant PRAD-UK 17 2576567 2576567 single base substitution C A upstream_gene_variant PRAD-UK 17 2585467 2585468 deletion of <=200bp GA - 3_prime_UTR_variant PRAD-UK 17 2585467 2585468 deletion of <=200bp GA - downstream_gene_variant PRAD-UK 17 2585467 2585468 deletion of <=200bp GA - exon_variant PRAD-UK 17 2585467 2585468 deletion of <=200bp GA - intron_variant PRAD-UK 17 2585468 2585468 single base substitution A T 3_prime_UTR_variant PRAD-UK 17 2585468 2585468 single base substitution A T downstream_gene_variant PRAD-UK 17 2585468 2585468 single base substitution A T exon_variant PRAD-UK 17 2585468 2585468 single base substitution A T intron_variant READ-US 17 2576021 2576021 single base substitution A C downstream_gene_variant READ-US 17 2576021 2576021 single base substitution A C exon_variant READ-US 17 2576021 2576021 single base substitution A C intron_variant READ-US 17 2576021 2576021 single base substitution A C missense_variant K214T 641A>C READ-US 17 2576021 2576021 single base substitution A C missense_variant K43T 128A>C READ-US 17 2576021 2576021 single base substitution A C missense_variant K46T 137A>C READ-US 17 2576021 2576021 single base substitution A C upstream_gene_variant RECA-EU 17 2504439 2504439 single base substitution A T intron_variant RECA-EU 17 2504445 2504445 single base substitution C G intron_variant RECA-EU 17 2524453 2524453 single base substitution G T intron_variant RECA-EU 17 2538829 2538829 single base substitution T A intron_variant RECA-EU 17 2542059 2542059 single base substitution C T downstream_gene_variant RECA-EU 17 2542059 2542059 single base substitution C T intron_variant RECA-EU 17 2544856 2544856 single base substitution C T downstream_gene_variant RECA-EU 17 2544856 2544856 single base substitution C T intron_variant RECA-EU 17 2577581 2577581 single base substitution A C downstream_gene_variant RECA-EU 17 2577581 2577581 single base substitution A C intron_variant RECA-EU 17 2577581 2577581 single base substitution A C missense_variant E129A 386A>C RECA-EU 17 2577581 2577581 single base substitution A C missense_variant E132A 395A>C RECA-EU 17 2577581 2577581 single base substitution A C missense_variant E300A 899A>C RECA-EU 17 2577581 2577581 single base substitution A C splice_region_variant RECA-EU 17 2585590 2585590 single base substitution A T 3_prime_UTR_variant RECA-EU 17 2585590 2585590 single base substitution A T downstream_gene_variant RECA-EU 17 2585590 2585590 single base substitution A T exon_variant RECA-EU 17 2585590 2585590 single base substitution A T intron_variant RECA-EU 17 2587074 2587074 single base substitution A C 3_prime_UTR_variant RECA-EU 17 2587074 2587074 single base substitution A C downstream_gene_variant RECA-EU 17 2587074 2587074 single base substitution A C intron_variant SKCA-BR 17 2492138 2492138 single base substitution G C upstream_gene_variant SKCA-BR 17 2493335 2493336 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 17 2494051 2494051 single base substitution G A upstream_gene_variant SKCA-BR 17 2495920 2495920 single base substitution C T upstream_gene_variant SKCA-BR 17 2496884 2496884 insertion of <=200bp - GGGCGGC intron_variant SKCA-BR 17 2496884 2496884 insertion of <=200bp - GGGCGGC upstream_gene_variant SKCA-BR 17 2497235 2497235 single base substitution T C 5_prime_UTR_variant SKCA-BR 17 2497235 2497235 single base substitution T C exon_variant SKCA-BR 17 2497235 2497235 single base substitution T C intron_variant SKCA-BR 17 2497235 2497235 single base substitution T C upstream_gene_variant SKCA-BR 17 2501075 2501075 insertion of <=200bp - AGT intron_variant SKCA-BR 17 2503862 2503862 insertion of <=200bp - CA intron_variant SKCA-BR 17 2505531 2505531 single base substitution T C intron_variant SKCA-BR 17 2507572 2507572 single base substitution T C intron_variant SKCA-BR 17 2508103 2508103 insertion of <=200bp - CA intron_variant SKCA-BR 17 2508103 2508103 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 17 2513490 2513491 deletion of <=200bp CT - intron_variant SKCA-BR 17 2516336 2516337 deletion of <=200bp TA - intron_variant SKCA-BR 17 2516934 2516934 single base substitution T C intron_variant SKCA-BR 17 2517367 2517367 single base substitution T G intron_variant SKCA-BR 17 2518671 2518671 single base substitution C T intron_variant SKCA-BR 17 2520202 2520202 insertion of <=200bp - CA intron_variant SKCA-BR 17 2522131 2522131 single base substitution G A intron_variant SKCA-BR 17 2524900 2524901 deletion of <=200bp TC - intron_variant SKCA-BR 17 2526314 2526314 single base substitution A G intron_variant SKCA-BR 17 2529855 2529855 single base substitution C G intron_variant SKCA-BR 17 2533295 2533295 single base substitution C T intron_variant SKCA-BR 17 2534518 2534518 single base substitution G A intron_variant SKCA-BR 17 2538762 2538762 single base substitution A C 5_prime_UTR_variant SKCA-BR 17 2538762 2538762 single base substitution A C intron_variant SKCA-BR 17 2540036 2540036 single base substitution C T intron_variant SKCA-BR 17 2546848 2546849 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 17 2546848 2546849 deletion of <=200bp CT - intron_variant SKCA-BR 17 2555569 2555569 single base substitution C T intron_variant SKCA-BR 17 2557247 2557247 single base substitution C T intron_variant SKCA-BR 17 2560517 2560517 single base substitution T C intron_variant SKCA-BR 17 2567959 2567959 insertion of <=200bp - GCGCGCTCTCTCTCT intron_variant SKCA-BR 17 2567959 2567959 insertion of <=200bp - GCGCGCTCTCTCTCT upstream_gene_variant SKCA-BR 17 2570126 2570126 single base substitution A G downstream_gene_variant SKCA-BR 17 2570126 2570126 single base substitution A G intron_variant SKCA-BR 17 2570126 2570126 single base substitution A G upstream_gene_variant SKCA-BR 17 2570609 2570609 single base substitution C T downstream_gene_variant SKCA-BR 17 2570609 2570609 single base substitution C T exon_variant SKCA-BR 17 2570609 2570609 single base substitution C T intron_variant SKCA-BR 17 2570609 2570609 single base substitution C T upstream_gene_variant SKCA-BR 17 2570610 2570610 single base substitution A T downstream_gene_variant SKCA-BR 17 2570610 2570610 single base substitution A T exon_variant SKCA-BR 17 2570610 2570610 single base substitution A T intron_variant SKCA-BR 17 2570610 2570610 single base substitution A T upstream_gene_variant SKCA-BR 17 2573324 2573324 single base substitution C T downstream_gene_variant SKCA-BR 17 2573324 2573324 single base substitution C T intron_variant SKCA-BR 17 2573324 2573324 single base substitution C T upstream_gene_variant SKCA-BR 17 2574862 2574862 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 17 2574862 2574862 insertion of <=200bp - CT intron_variant SKCA-BR 17 2574862 2574862 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 17 2575579 2575579 single base substitution C A downstream_gene_variant SKCA-BR 17 2575579 2575579 single base substitution C A intron_variant SKCA-BR 17 2575579 2575579 single base substitution C A upstream_gene_variant SKCA-BR 17 2581150 2581150 insertion of <=200bp - AAAAT intron_variant SKCA-BR 17 2581150 2581150 insertion of <=200bp - AAAAT upstream_gene_variant SKCA-BR 17 2581298 2581298 single base substitution C T intron_variant SKCA-BR 17 2581298 2581298 single base substitution C T upstream_gene_variant SKCA-BR 17 2582420 2582420 insertion of <=200bp - TA intron_variant SKCA-BR 17 2582420 2582420 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 17 2582422 2582422 single base substitution T A intron_variant SKCA-BR 17 2582422 2582422 single base substitution T A upstream_gene_variant SKCA-BR 17 2585880 2585880 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 2585880 2585880 single base substitution C T downstream_gene_variant SKCA-BR 17 2585880 2585880 single base substitution C T intron_variant SKCA-BR 17 2589561 2589561 single base substitution C T downstream_gene_variant SKCA-BR 17 2591951 2591951 single base substitution T C downstream_gene_variant SKCA-BR 17 2591966 2591966 single base substitution T A downstream_gene_variant SKCM-US 17 2568691 2568691 single base substitution C T exon_variant SKCM-US 17 2568691 2568691 single base substitution C T intron_variant SKCM-US 17 2568691 2568691 single base substitution C T missense_variant R20C 58C>T SKCM-US 17 2568691 2568691 single base substitution C T upstream_gene_variant SKCM-US 17 2569346 2569346 insertion of <=200bp - A 3_prime_UTR_variant SKCM-US 17 2569346 2569346 insertion of <=200bp - A exon_variant SKCM-US 17 2569346 2569346 insertion of <=200bp - A frameshift_variant E52R? SKCM-US 17 2569346 2569346 insertion of <=200bp - A intron_variant SKCM-US 17 2569346 2569346 insertion of <=200bp - A upstream_gene_variant SKCM-US 17 2570400 2570400 single base substitution G C 3_prime_UTR_variant SKCM-US 17 2570400 2570400 single base substitution G C downstream_gene_variant SKCM-US 17 2570400 2570400 single base substitution G C exon_variant SKCM-US 17 2570400 2570400 single base substitution G C intron_variant SKCM-US 17 2570400 2570400 single base substitution G C missense_variant A103P 307G>C SKCM-US 17 2570400 2570400 single base substitution G C upstream_gene_variant SKCM-US 17 2570417 2570417 single base substitution G A 3_prime_UTR_variant SKCM-US 17 2570417 2570417 single base substitution G A downstream_gene_variant SKCM-US 17 2570417 2570417 single base substitution G A exon_variant SKCM-US 17 2570417 2570417 single base substitution G A intron_variant SKCM-US 17 2570417 2570417 single base substitution G A synonymous_variant R108R 324G>A SKCM-US 17 2570417 2570417 single base substitution G A upstream_gene_variant SKCM-US 17 2583502 2583502 single base substitution G A exon_variant SKCM-US 17 2583502 2583502 single base substitution G A intron_variant SKCM-US 17 2583502 2583502 single base substitution G A synonymous_variant G144G 432G>A SKCM-US 17 2583502 2583502 single base substitution G A synonymous_variant G147G 441G>A SKCM-US 17 2583502 2583502 single base substitution G A synonymous_variant G349G 1047G>A SKCM-US 17 2583502 2583502 single base substitution G A upstream_gene_variant SKCM-US 17 2585041 2585041 single base substitution C T downstream_gene_variant SKCM-US 17 2585041 2585041 single base substitution C T exon_variant SKCM-US 17 2585041 2585041 single base substitution C T intron_variant SKCM-US 17 2585041 2585041 single base substitution C T missense_variant P188L 563C>T SKCM-US 17 2585041 2585041 single base substitution C T missense_variant P191L 572C>T SKCM-US 17 2585041 2585041 single base substitution C T missense_variant P393L 1178C>T STAD-US 17 2570370 2570370 single base substitution G T 3_prime_UTR_variant STAD-US 17 2570370 2570370 single base substitution G T downstream_gene_variant STAD-US 17 2570370 2570370 single base substitution G T exon_variant STAD-US 17 2570370 2570370 single base substitution G T intron_variant STAD-US 17 2570370 2570370 single base substitution G T stop_gained E93* 277G>T STAD-US 17 2570370 2570370 single base substitution G T upstream_gene_variant STAD-US 17 2570398 2570398 single base substitution A G 3_prime_UTR_variant STAD-US 17 2570398 2570398 single base substitution A G downstream_gene_variant STAD-US 17 2570398 2570398 single base substitution A G exon_variant STAD-US 17 2570398 2570398 single base substitution A G intron_variant STAD-US 17 2570398 2570398 single base substitution A G missense_variant Y102C 305A>G STAD-US 17 2570398 2570398 single base substitution A G upstream_gene_variant STAD-US 17 2570437 2570437 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 17 2570437 2570437 deletion of <=200bp T - downstream_gene_variant STAD-US 17 2570437 2570437 deletion of <=200bp T - exon_variant STAD-US 17 2570437 2570437 deletion of <=200bp T - frameshift_variant I115 STAD-US 17 2570437 2570437 deletion of <=200bp T - intron_variant STAD-US 17 2570437 2570437 deletion of <=200bp T - upstream_gene_variant STAD-US 17 2570463 2570463 single base substitution G A 3_prime_UTR_variant STAD-US 17 2570463 2570463 single base substitution G A downstream_gene_variant STAD-US 17 2570463 2570463 single base substitution G A exon_variant STAD-US 17 2570463 2570463 single base substitution G A intron_variant STAD-US 17 2570463 2570463 single base substitution G A missense_variant V124I 370G>A STAD-US 17 2570463 2570463 single base substitution G A upstream_gene_variant STAD-US 17 2579802 2579802 deletion of <=200bp A - exon_variant STAD-US 17 2579802 2579802 deletion of <=200bp A - frameshift_variant K302 STAD-US 17 2579802 2579802 deletion of <=200bp A - intron_variant STAD-US 17 2579802 2579802 deletion of <=200bp A - upstream_gene_variant STAD-US 17 2579901 2579901 single base substitution G A intron_variant STAD-US 17 2579901 2579901 single base substitution G A splice_donor_variant STAD-US 17 2579901 2579901 single base substitution G A upstream_gene_variant STAD-US 17 2583573 2583573 single base substitution T C exon_variant STAD-US 17 2583573 2583573 single base substitution T C intron_variant STAD-US 17 2583573 2583573 single base substitution T C missense_variant M168T 503T>C STAD-US 17 2583573 2583573 single base substitution T C missense_variant M171T 512T>C STAD-US 17 2583573 2583573 single base substitution T C missense_variant M373T 1118T>C STAD-US 17 2583573 2583573 single base substitution T C upstream_gene_variant THCA-SA 17 2585113 2585113 single base substitution C T 3_prime_UTR_variant THCA-SA 17 2585113 2585113 single base substitution C T downstream_gene_variant THCA-SA 17 2585113 2585113 single base substitution C T exon_variant THCA-SA 17 2585113 2585113 single base substitution C T intron_variant UCEC-US 17 2541605 2541605 single base substitution G A exon_variant UCEC-US 17 2541605 2541605 single base substitution G A intron_variant UCEC-US 17 2541605 2541605 single base substitution G A missense_variant R8Q 23G>A UCEC-US 17 2569384 2569384 single base substitution G A exon_variant UCEC-US 17 2569384 2569384 single base substitution G A intron_variant UCEC-US 17 2569384 2569384 single base substitution G A splice_region_variant UCEC-US 17 2569384 2569384 single base substitution G A upstream_gene_variant UCEC-US 17 2577385 2577385 single base substitution G A downstream_gene_variant UCEC-US 17 2577385 2577385 single base substitution G A exon_variant UCEC-US 17 2577385 2577385 single base substitution G A intron_variant UCEC-US 17 2577385 2577385 single base substitution G A missense_variant E235K 703G>A UCEC-US 17 2577385 2577385 single base substitution G A missense_variant E64K 190G>A UCEC-US 17 2577385 2577385 single base substitution G A missense_variant E67K 199G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-G4-6628-01 COSM1381876 c.59G>A p.R20H Substitution - Missense 17:2665398-2665398 + CSCC-29-T COSM4558504 c.76G>A p.E26K Substitution - Missense 17:2665415-2665415 + TCGA-AP-A0L9-01 COSM976700 c.703G>A p.E235K Substitution - Missense 17:2674091-2674091 + TCGA-CW-6090-01 COSM472448 c.678T>C p.C226C Substitution - coding silent 17:2674066-2674066 + 18472 COSM1381877 c.155delA p.K54fs*15 Deletion - Frameshift 17:2666053-2666053 + BCM723T COSM5348132 c.162delA p.K54fs*15 Deletion - Frameshift 17:2666060-2666060 + CSCC-38-T COSM4450077 c.437delT p.G148fs*25 Deletion - Frameshift 17:2670200-2670200 + TCGA-EK-A2H0-01 COSM4818954 c.360C>T p.F120F Substitution - coding silent 17:2667159-2667159 + sysucc-311T COSM5463973 c.223G>A p.A75T Substitution - Missense 17:2667022-2667022 + UM-SCC-11B COSM4597738 c.646A>G p.I216V Substitution - Missense 17:2672732-2672732 + CRC-02T COSM5454523 c.1006G>T p.G336C Substitution - Missense 17:2680167-2680167 + TCGA-EE-A29L-06 COSM2799350 c.58C>T p.R20C Substitution - Missense 17:2665397-2665397 + T96 COSM4710832 c.977G>A p.S326N Substitution - Missense 17:2676581-2676581 + SW48 COSM2799367 c.904delA p.S304fs*29 Deletion - Frameshift 17:2676508-2676508 + CSCC-41-T COSM4545657 c.382G>A p.E128K Substitution - Missense 17:2667181-2667181 + PT49 COSM5936340 c.289C>T p.R97C Substitution - Missense 17:2667088-2667088 + 587376 COSM1219114 c.1088G>A p.R363H Substitution - Missense 17:2680249-2680249 + TCGA-DK-A3WW-01 COSM3795357 c.616C>T p.H206Y Substitution - Missense 17:2672702-2672702 + CHC2113T COSM4949646 c.901-2A>G p.? Unknown 17:2676503-2676503 + 968T COSM5825514 c.55C>G p.L19V Substitution - Missense 17:2665394-2665394 + B52 COSM1749935 c.352C>T p.P118S Substitution - Missense 17:2667151-2667151 + HCA7 COSM2799367 c.904delA p.S304fs*29 Deletion - Frameshift 17:2676508-2676508 + TCGA-E2-A10C-01 COSM436201 c.170C>G p.S57C Substitution - Missense 17:2666068-2666068 + C0053T COSM4151502 c.899A>C p.E300A Substitution - Missense 17:2674287-2674287 + TCGA-A3-3347-01 COSM3362032 c.220G>A p.E74K Substitution - Missense 17:2667019-2667019 + ESCC_32 COSM5628046 c.552C>T p.C184C Substitution - coding silent 17:2670315-2670315 + Pat_59_A COSM178379 c.431G>A p.R144Q Substitution - Missense 17:2670194-2670194 + 587358 COSM1219113 c.628G>C p.A210P Substitution - Missense 17:2672714-2672714 + TCGA-D8-A1X8-01 COSM1479341 c.430C>T p.R144* Substitution - Nonsense 17:2670193-2670193 + YUSWI COSM1709565 c.1039C>T p.H347Y Substitution - Missense 17:2680200-2680200 + 1N46-VS-1T46 COSM4976051 c.1111C>T p.R371* Substitution - Nonsense 17:2680272-2680272 + PDA_007 COSM4998174 c.775C>T p.R259C Substitution - Missense 17:2674163-2674163 + TCGA-IR-A3LA-01 COSM4844438 c.1160-3C>T p.? Unknown 17:2681726-2681726 + 2_RESISTANT COSM1722439 c.296C>T p.P99L Substitution - Missense 17:2667095-2667095 + TCGA-AP-A0LM-01 COSM976690 c.23G>A p.R8Q Substitution - Missense 17:2638311-2638311 + TCGA-EE-A2M5-06 COSM3515224 c.1047G>A p.G349G Substitution - coding silent 17:2680208-2680208 + TCGA-AX-A0J1-01 COSM976699 c.192G>A p.K64K Substitution - coding silent 17:2666090-2666090 + TARGET-30-PARVNT COSM1286949 c.154_155insA p.W55fs*6 Insertion - Frameshift 17:2666052-2666053 + TCGA-CM-6162-01 COSM1381878 c.1112G>A p.R371Q Substitution - Missense 17:2680273-2680273 + PT14_1 COSM5897142 c.941G>A p.G314E Substitution - Missense 17:2676545-2676545 + pfg181T COSM1381877 c.155delA p.K54fs*15 Deletion - Frameshift 17:2666053-2666053 + TCGA-46-3769-01 COSM705896 c.4G>T p.V2L Substitution - Missense 17:2638292-2638292 + Pat_16_B COSM5852055 c.787G>A p.V263I Substitution - Missense 17:2674175-2674175 + B52-Tumor COSM1749935 c.352C>T p.P118S Substitution - Missense 17:2667151-2667151 + CHC429T COSM217121 c.281G>A p.W94* Substitution - Nonsense 17:2667080-2667080 + QC2-33-T2 COSM5654563 c.380C>A p.S127* Substitution - Nonsense 17:2667179-2667179 + LP6005500-DNA_F02 COSM5036966 c.911G>A p.S304N Substitution - Missense 17:2676515-2676515 + TCGA-BR-8372-01 COSM4064811 c.305A>G p.Y102C Substitution - Missense 17:2667104-2667104 + 2328683 COSM2799367 c.904delA p.S304fs*29 Deletion - Frameshift 17:2676508-2676508 + TCGA-B5-A0JV-01 COSM976701 c.1062G>T p.L354F Substitution - Missense 17:2680223-2680223 + T3079 COSM4710831 c.293C>T p.P98L Substitution - Missense 17:2667092-2667092 + I2L-P19Ta-Tumor-Organoid COSM1381877 c.155delA p.K54fs*15 Deletion - Frameshift 17:2666053-2666053 + TCGA-MU-A5YI-01 COSM4855322 c.86C>A p.S29* Substitution - Nonsense 17:2665425-2665425 + pfg173T COSM4746507 c.344_358del15 p.F116_F120delFHPVF Deletion - In frame 17:2667143-2667157 + CHC429T COSM217121 c.281G>A p.W94* Substitution - Nonsense 17:2667080-2667080 + 19 COSM2799373 c.1186G>A p.V396I Substitution - Missense 17:2681755-2681755 + TCGA-EE-A2GB-06 COSM3515225 c.1178C>T p.P393L Substitution - Missense 17:2681747-2681747 + TCGA-HU-8602-01 COSM4064814 c.1118T>C p.M373T Substitution - Missense 17:2680279-2680279 + CSCC-18-T COSM4485067 c.288C>T p.P96P Substitution - coding silent 17:2667087-2667087 + TCGA-BR-4370-01 COSM4064813 c.1002+1G>A p.? Unknown 17:2676607-2676607 + TCGA-AA-3672-01 COSM267100 c.239C>T p.T80M Substitution - Missense 17:2667038-2667038 + 6115224 COSM5557000 c.598A>G p.I200V Substitution - Missense 17:2672684-2672684 + TCGA-DU-7306-01 COSM3969900 c.640A>G p.K214E Substitution - Missense 17:2672726-2672726 + TCGA-BR-8680-01 COSM4064810 c.277G>T p.E93* Substitution - Nonsense 17:2667076-2667076 + Pat_45_A COSM5852054 c.755G>A p.C252Y Substitution - Missense 17:2674143-2674143 + T578 COSM4710833 c.1024C>T p.R342C Substitution - Missense 17:2680185-2680185 + 92 COSM5015792 c.722G>A p.R241Q Substitution - Missense 17:2674110-2674110 + 1N45-VS-1T45 COSM4975807 c.568+1G>A p.? Unknown 17:2670332-2670332 + Pat_01_B COSM5852056 c.1090G>A p.V364I Substitution - Missense 17:2680251-2680251 + TCGA-EE-A2MR-06 COSM3515223 c.324G>A p.R108R Substitution - coding silent 17:2667123-2667123 + CHC2113T COSM4949646 c.901-2A>G p.? Unknown 17:2676503-2676503 + 587342 COSM1219115 c.1051A>G p.K351E Substitution - Missense 17:2680212-2680212 + QC2-39-T2 COSM5655804 c.848C>A p.S283Y Substitution - Missense 17:2674236-2674236 + BCM723T COSM1381877 c.155delA p.K54fs*15 Deletion - Frameshift 17:2666053-2666053 + TCGA-D3-A2JH-06 COSM3515222 c.307G>C p.A103P Substitution - Missense 17:2667106-2667106 + 587228 COSM1219112 c.721C>T p.R241W Substitution - Missense 17:2674109-2674109 + TCGA-F1-6177-01 COSM4064812 c.370G>A p.V124I Substitution - Missense 17:2667169-2667169 + CHC1040T COSM5348133 c.463delG p.D155fs*18 Deletion - Frameshift 17:2670226-2670226 + 2_PRE-TREATMENT COSM1722439 c.296C>T p.P99L Substitution - Missense 17:2667095-2667095 + 12T COSM109474 c.849C>T p.S283S Substitution - coding silent 17:2674237-2674237 + TCGA-F5-6814-01 COSM3421349 c.641A>C p.K214T Substitution - Missense 17:2672727-2672727 + CHC429T COSM217121 c.281G>A p.W94* Substitution - Nonsense 17:2667080-2667080 + TCGA-A8-A07P-01 COSM436202 c.603G>T p.M201I Substitution - Missense 17:2672689-2672689 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.77318 17p13.3 601545 2489304|CGAP|BC064638|C/T|non-coding||1459|Validated; 2489306|CGAP|BC064638|A/C|non-coding||5168|Candidate; 2424623|dbSNP|BC064638|C/T|coding|Ile353Ile|1268|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.K54Nfs*15 c.162delA 17 2569347 LGG A - Frameshift p.K54Nfs*15 c.162delA 17 2569347 NSCLC A G IntronicSNV . c.1-32936A>G 17 2508647 CLL A G Missense p.K214E c.640A>G 17 2576020 LGG A G Missense p.Q222R c.665A>G 17 2576045 STAD A - IntronicDeletion . c.399+146delA 17 2570628 STAD - A IntronicInsertion . c.399+146dupA 17 2570628 CM A T Missense p.M373L c.1117A>T 17 2583572 CM C T Missense p.P393L c.1178C>T 17 2585041 CM C T Missense p.R20C c.58C>T 17 2568691 CM C T Missense p.R97C c.289C>T 17 2570382 CM C T Nonsense p.R144* c.430C>T 17 2573487 BRCA G A Missense p.E235K c.703G>A 17 2577385 UCEC G A Missense p.E74K c.220G>A 17 2570313 RCCC G A Missense p.V124I c.370G>A 17 2570463 STAD G A SpliceDonorSNV . c.1002+1G>A 17 2579901 STAD G A Synonymous p.G349G c.1047G>A 17 2583502 CM G C Missense p.A103P c.307G>C 17 2570400 CM G C Missense p.W323S c.968G>C 17 2579866 CM G T 3-UTRSNV . c.1230+1686G>T 17 2586779 HC G T Missense p.M201I c.603G>T 17 2575983 BRCA G T Missense p.V2L c.4G>T 17 2541586 LUSC G T Synonymous p.A378A c.1134G>T 17 2583589 LUAD T C Synonymous p.C226C c.678T>C 17 2577360 RCCC