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 61628110 61628110 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 g.chr17:61628110G>C c.72G>C c.(70-72)tgG>tgC p.W24C BLCA 17 61628119 61628119 + Silent SNP G G T TCGA-GU-A767-01A-11D-A32B-08 TCGA-GU-A767-10A-01D-A329-08 g.chr17:61628119G>T c.81G>T c.(79-81)cgG>cgT p.R27R BLCA 17 61662585 61662585 + Missense_Mutation SNP G G C TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr17:61662585G>C c.751G>C c.(751-753)Gat>Cat p.D251H BLCA 17 61666498 61666498 + Missense_Mutation SNP C C G TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 g.chr17:61666498C>G c.993C>G c.(991-993)atC>atG p.I331M BRCA 17 61661011 61661011 + Missense_Mutation SNP C C T TCGA-A2-A3XZ-01A-42D-A23C-09 TCGA-A2-A3XZ-10A-01D-A23C-09 g.chr17:61661011C>T c.676C>T c.(676-678)Cgc>Tgc p.R226C BRCA 17 61662631 61662631 + Missense_Mutation SNP G G A TCGA-D8-A1JT-01A-31D-A13L-09 TCGA-D8-A1JT-10A-01D-A13O-09 g.chr17:61662631G>A c.797G>A c.(796-798)cGa>cAa p.R266Q CESC 17 61666384 61666384 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr17:61666384C>T c.879C>T c.(877-879)atC>atT p.I293I CHOL 17 61660866 61660866 + Missense_Mutation SNP T T C TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr17:61660866T>C c.532T>C c.(532-534)Tat>Cat p.Y178H COAD 17 61655938 61655938 + Silent SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr17:61655938C>T c.246C>T c.(244-246)ggC>ggT p.G82G COAD 17 61656699 61656699 + Splice_Site SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:61656699T>C c.299T>C c.(298-300)gTt>gCt p.V100A COAD 17 61657248 61657248 + Nonsense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:61657248C>T c.472C>T c.(472-474)Cga>Tga p.R158* COAD 17 61660890 61660890 + Splice_Site SNP G G C TCGA-CM-6680-01A-11D-1835-10 TCGA-CM-6680-10A-01D-1835-10 g.chr17:61660890G>C c.e6-1 COAD 17 61660984 61660984 + Missense_Mutation SNP G G A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr17:61660984G>A c.649G>A c.(649-651)Gaa>Aaa p.E217K COAD 17 61661048 61661048 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr17:61661048C>T c.713C>T c.(712-714)gCc>gTc p.A238V COAD 17 61666493 61666493 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:61666493G>A c.988G>A c.(988-990)Gcc>Acc p.A330T COADREAD 17 61655832 61655832 + Splice_Site SNP T T C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr17:61655832T>C c.140T>C c.(139-141)gTt>gCt p.V47A COADREAD 17 61655938 61655938 + Silent SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr17:61655938C>T c.246C>T c.(244-246)ggC>ggT p.G82G COADREAD 17 61656699 61656699 + Splice_Site SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:61656699T>C c.299T>C c.(298-300)gTt>gCt p.V100A COADREAD 17 61657248 61657248 + Nonsense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:61657248C>T c.472C>T c.(472-474)Cga>Tga p.R158* COADREAD 17 61660890 61660890 + Splice_Site SNP G G C TCGA-CM-6680-01A-11D-1835-10 TCGA-CM-6680-10A-01D-1835-10 g.chr17:61660890G>C c.e6-1 COADREAD 17 61660984 61660984 + Missense_Mutation SNP G G A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr17:61660984G>A c.649G>A c.(649-651)Gaa>Aaa p.E217K COADREAD 17 61661048 61661048 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr17:61661048C>T c.713C>T c.(712-714)gCc>gTc p.A238V COADREAD 17 61666493 61666493 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:61666493G>A c.988G>A c.(988-990)Gcc>Acc p.A330T ESCA 17 61666411 61666411 + Silent SNP C C A TCGA-2H-A9GO-01A-11D-A37C-09 TCGA-2H-A9GO-11A-11D-A37F-09 g.chr17:61666411C>A c.906C>A c.(904-906)gcC>gcA p.A302A GBM 17 61657190 61657190 + Silent SNP C C A TCGA-06-0649-01B-01W-0348-08 TCGA-06-0649-10A-01W-0348-08 g.chr17:61657190C>A c.414C>A c.(412-414)acC>acA p.T138T GBMLGG 17 61657190 61657190 + Silent SNP C C A TCGA-06-0649-01B-01W-0348-08 TCGA-06-0649-10A-01W-0348-08 g.chr17:61657190C>A c.414C>A c.(412-414)acC>acA p.T138T GBMLGG 17 61662612 61662612 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:61662612G>A c.778G>A c.(778-780)Gcc>Acc p.A260T HNSC 17 61628097 61628097 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr17:61628097A>G c.59A>G c.(58-60)tAc>tGc p.Y20C HNSC 17 61661062 61661062 + Missense_Mutation SNP G G A TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 g.chr17:61661062G>A c.727G>A c.(727-729)Gat>Aat p.D243N KIPAN 17 61628100 61628100 + Missense_Mutation SNP C C T TCGA-CJ-4882-01A-02D-1429-08 TCGA-CJ-4882-11A-01D-1429-08 g.chr17:61628100C>T c.62C>T c.(61-63)gCg>gTg p.A21V KIRC 17 61628100 61628100 + Missense_Mutation SNP C C T TCGA-CJ-4882-01A-02D-1429-08 TCGA-CJ-4882-11A-01D-1429-08 g.chr17:61628100C>T c.62C>T c.(61-63)gCg>gTg p.A21V LGG 17 61662612 61662612 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:61662612G>A c.778G>A c.(778-780)Gcc>Acc p.A260T LIHC 17 61666468 61666468 + Missense_Mutation SNP G G T TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr17:61666468G>T c.963G>T c.(961-963)tgG>tgT p.W321C LUAD 17 61628127 61628127 + Missense_Mutation SNP A A G TCGA-17-Z016-01A-01W-0746-08 TCGA-17-Z016-11A-01W-0746-08 g.chr17:61628127A>G c.89A>G c.(88-90)aAg>aGg p.K30R LUAD 17 61655948 61655948 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 g.chr17:61655948G>T c.256G>T c.(256-258)Gac>Tac p.D86Y LUAD 17 61657205 61657205 + Silent SNP G G T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 g.chr17:61657205G>T c.429G>T c.(427-429)acG>acT p.T143T LUAD 17 61657267 61657267 + Missense_Mutation SNP G G A TCGA-64-5815-01A-01D-1625-08 TCGA-64-5815-10A-01D-1625-08 g.chr17:61657267G>A c.491G>A c.(490-492)gGc>gAc p.G164D LUAD 17 61660979 61660980 + Frame_Shift_Del DEL TT TT - TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 g.chr17:61660979_61660980delTT c.644_645delTT c.(643-645)attfs p.I215fs LUAD 17 61662625 61662625 + Missense_Mutation SNP A A G TCGA-86-8280-01A-11D-2284-08 TCGA-86-8280-10A-01D-2284-08 g.chr17:61662625A>G c.791A>G c.(790-792)aAc>aGc p.N264S LUSC 17 61661022 61661022 + Missense_Mutation SNP G G C TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 g.chr17:61661022G>C c.687G>C c.(685-687)tgG>tgC p.W229C OV 17 61662659 61662659 + Silent SNP C C T TCGA-24-1416-01A-01W-0549-09 TCGA-24-1416-10A-01W-0549-09 g.chr17:61662659C>T c.825C>T c.(823-825)gcC>gcT p.A275A READ 17 61655832 61655832 + Splice_Site SNP T T C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr17:61655832T>C c.140T>C c.(139-141)gTt>gCt p.V47A SARC 17 61666515 61666515 + Missense_Mutation SNP T T C TCGA-MB-A5Y8-01A-11D-A29N-09 TCGA-MB-A5Y8-10A-01D-A29N-09 g.chr17:61666515T>C c.1010T>C c.(1009-1011)cTg>cCg p.L337P SKCM 17 61657259 61657259 + Silent SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr17:61657259C>T c.483C>T c.(481-483)ctC>ctT p.L161L SKCM 17 61660954 61660954 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:61660954C>T c.619C>T c.(619-621)Cgc>Tgc p.R207C SKCM 17 61666411 61666411 + Silent SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr17:61666411C>T c.906C>T c.(904-906)gcC>gcT p.A302A

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 61655905 61655905 single base substitution C T exon_variant BLCA-CN 17 61655905 61655905 single base substitution C T intron_variant BLCA-CN 17 61655905 61655905 single base substitution C T synonymous_variant T71T 213C>T BLCA-US 17 61623123 61623123 single base substitution C G upstream_gene_variant BLCA-US 17 61623247 61623247 single base substitution G A upstream_gene_variant BLCA-US 17 61628110 61628110 single base substitution G C exon_variant BLCA-US 17 61628110 61628110 single base substitution G C missense_variant W24C 72G>C BLCA-US 17 61662585 61662585 single base substitution G C exon_variant BLCA-US 17 61662585 61662585 single base substitution G C intron_variant BLCA-US 17 61662585 61662585 single base substitution G C missense_variant D251H 751G>C BLCA-US 17 61662585 61662585 single base substitution G C missense_variant D51H 151G>C BLCA-US 17 61662585 61662585 single base substitution G C upstream_gene_variant BOCA-FR 17 61632627 61632627 single base substitution T C downstream_gene_variant BOCA-FR 17 61632627 61632627 single base substitution T C intron_variant BOCA-UK 17 61666364 61666364 single base substitution G T downstream_gene_variant BOCA-UK 17 61666364 61666364 single base substitution G T intron_variant BOCA-UK 17 61666364 61666364 single base substitution G T missense_variant D287Y 859G>T BOCA-UK 17 61666364 61666364 single base substitution G T missense_variant D87Y 259G>T BOCA-UK 17 61666364 61666364 single base substitution G T splice_region_variant BOCA-UK 17 61666364 61666364 single base substitution G T upstream_gene_variant BRCA-EU 17 61623259 61623259 single base substitution A C upstream_gene_variant BRCA-EU 17 61624546 61624546 single base substitution C T upstream_gene_variant BRCA-EU 17 61628586 61628586 single base substitution C T intron_variant BRCA-EU 17 61628790 61628790 single base substitution C G intron_variant BRCA-EU 17 61629083 61629083 single base substitution C T intron_variant BRCA-EU 17 61630885 61630885 single base substitution A G downstream_gene_variant BRCA-EU 17 61630885 61630885 single base substitution A G intron_variant BRCA-EU 17 61631034 61631034 single base substitution G C downstream_gene_variant BRCA-EU 17 61631034 61631034 single base substitution G C intron_variant BRCA-EU 17 61631154 61631154 single base substitution A T downstream_gene_variant BRCA-EU 17 61631154 61631154 single base substitution A T intron_variant BRCA-EU 17 61631680 61631680 single base substitution G A downstream_gene_variant BRCA-EU 17 61631680 61631680 single base substitution G A intron_variant BRCA-EU 17 61631860 61631860 single base substitution C G downstream_gene_variant BRCA-EU 17 61631860 61631860 single base substitution C G intron_variant BRCA-EU 17 61632945 61632945 single base substitution C T downstream_gene_variant BRCA-EU 17 61632945 61632945 single base substitution C T intron_variant BRCA-EU 17 61633149 61633149 deletion of <=200bp T - downstream_gene_variant BRCA-EU 17 61633149 61633149 deletion of <=200bp T - intron_variant BRCA-EU 17 61633752 61633752 single base substitution G A downstream_gene_variant BRCA-EU 17 61633752 61633752 single base substitution G A intron_variant BRCA-EU 17 61635507 61635507 single base substitution A G intron_variant BRCA-EU 17 61636144 61636144 deletion of <=200bp T - intron_variant BRCA-EU 17 61640102 61640102 single base substitution G A intron_variant BRCA-EU 17 61640302 61640302 single base substitution C T intron_variant BRCA-EU 17 61641748 61641748 single base substitution C G intron_variant BRCA-EU 17 61641749 61641750 deletion of <=200bp TT - intron_variant BRCA-EU 17 61641833 61641833 single base substitution G A intron_variant BRCA-EU 17 61641961 61641961 single base substitution C G intron_variant BRCA-EU 17 61642911 61642911 single base substitution G T intron_variant BRCA-EU 17 61644091 61644091 single base substitution T C intron_variant BRCA-EU 17 61644808 61644808 single base substitution G C intron_variant BRCA-EU 17 61645024 61645024 deletion of <=200bp T - intron_variant BRCA-EU 17 61645257 61645257 single base substitution C T intron_variant BRCA-EU 17 61646397 61646397 single base substitution G C intron_variant BRCA-EU 17 61646883 61646883 single base substitution C A intron_variant BRCA-EU 17 61649884 61649884 single base substitution C T intron_variant BRCA-EU 17 61650032 61650032 single base substitution A G intron_variant BRCA-EU 17 61650197 61650197 single base substitution C G intron_variant BRCA-EU 17 61650240 61650240 single base substitution C T intron_variant BRCA-EU 17 61650540 61650540 single base substitution C T intron_variant BRCA-EU 17 61650889 61650889 single base substitution C A intron_variant BRCA-EU 17 61651444 61651444 single base substitution C T intron_variant BRCA-EU 17 61652055 61652055 single base substitution C G intron_variant BRCA-EU 17 61653339 61653339 single base substitution G C intron_variant BRCA-EU 17 61653924 61653924 single base substitution G A intron_variant BRCA-EU 17 61654098 61654098 single base substitution G A intron_variant BRCA-EU 17 61655623 61655623 single base substitution G C intron_variant BRCA-EU 17 61657940 61657940 single base substitution C T intron_variant BRCA-EU 17 61662894 61662894 single base substitution C G downstream_gene_variant BRCA-EU 17 61662894 61662894 single base substitution C G intron_variant BRCA-EU 17 61662894 61662894 single base substitution C G upstream_gene_variant BRCA-EU 17 61665812 61665812 single base substitution G A downstream_gene_variant BRCA-EU 17 61665812 61665812 single base substitution G A intron_variant BRCA-EU 17 61665812 61665812 single base substitution G A upstream_gene_variant BRCA-EU 17 61666367 61666367 single base substitution G A downstream_gene_variant BRCA-EU 17 61666367 61666367 single base substitution G A exon_variant BRCA-EU 17 61666367 61666367 single base substitution G A intron_variant BRCA-EU 17 61666367 61666367 single base substitution G A missense_variant D288N 862G>A BRCA-EU 17 61666367 61666367 single base substitution G A missense_variant D88N 262G>A BRCA-EU 17 61666367 61666367 single base substitution G A upstream_gene_variant BRCA-EU 17 61667770 61667770 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 17 61667770 61667770 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 61667770 61667770 deletion of <=200bp A - exon_variant BRCA-EU 17 61667770 61667770 deletion of <=200bp A - intron_variant BRCA-EU 17 61668718 61668718 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 17 61668718 61668718 insertion of <=200bp - A downstream_gene_variant BRCA-EU 17 61668718 61668718 insertion of <=200bp - A exon_variant BRCA-EU 17 61668718 61668718 insertion of <=200bp - A intron_variant BRCA-EU 17 61668910 61668913 deletion of <=200bp ACTC - 3_prime_UTR_variant BRCA-EU 17 61668910 61668913 deletion of <=200bp ACTC - downstream_gene_variant BRCA-EU 17 61668910 61668913 deletion of <=200bp ACTC - exon_variant BRCA-EU 17 61668910 61668913 deletion of <=200bp ACTC - intron_variant BRCA-EU 17 61669326 61669326 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 61669326 61669326 single base substitution C T downstream_gene_variant BRCA-EU 17 61669326 61669326 single base substitution C T exon_variant BRCA-EU 17 61669326 61669326 single base substitution C T intron_variant BRCA-EU 17 61669845 61669854 deletion of <=200bp CAGGAAGAAA - 3_prime_UTR_variant BRCA-EU 17 61669845 61669854 deletion of <=200bp CAGGAAGAAA - downstream_gene_variant BRCA-EU 17 61669845 61669854 deletion of <=200bp CAGGAAGAAA - exon_variant BRCA-EU 17 61669845 61669854 deletion of <=200bp CAGGAAGAAA - intron_variant BRCA-EU 17 61670840 61670840 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 61670840 61670840 single base substitution C T downstream_gene_variant BRCA-EU 17 61670840 61670840 single base substitution C T exon_variant BRCA-EU 17 61670840 61670840 single base substitution C T intron_variant BRCA-EU 17 61671410 61671410 single base substitution T C 3_prime_UTR_variant BRCA-EU 17 61671410 61671410 single base substitution T C downstream_gene_variant BRCA-EU 17 61671410 61671410 single base substitution T C exon_variant BRCA-EU 17 61671410 61671410 single base substitution T C intron_variant BRCA-EU 17 61671929 61671929 single base substitution G C downstream_gene_variant BRCA-EU 17 61673833 61673833 single base substitution G C downstream_gene_variant BRCA-EU 17 61673883 61673883 single base substitution T C downstream_gene_variant BRCA-EU 17 61674227 61674227 single base substitution C G downstream_gene_variant BRCA-EU 17 61675439 61675439 deletion of <=200bp T - downstream_gene_variant BRCA-EU 17 61675673 61675673 single base substitution C T downstream_gene_variant BRCA-EU 17 61675986 61675986 single base substitution C A downstream_gene_variant BRCA-EU 17 61676173 61676173 single base substitution C G downstream_gene_variant BRCA-FR 17 61624898 61624898 single base substitution C A upstream_gene_variant BRCA-FR 17 61631860 61631860 single base substitution C G downstream_gene_variant BRCA-FR 17 61631860 61631860 single base substitution C G intron_variant BRCA-FR 17 61632845 61632845 single base substitution G A downstream_gene_variant BRCA-FR 17 61632845 61632845 single base substitution G A intron_variant BRCA-FR 17 61640302 61640302 single base substitution C T intron_variant BRCA-FR 17 61641748 61641748 single base substitution C G intron_variant BRCA-FR 17 61641961 61641961 single base substitution C G intron_variant BRCA-FR 17 61646883 61646883 single base substitution C A intron_variant BRCA-FR 17 61649884 61649884 single base substitution C T intron_variant BRCA-FR 17 61650197 61650197 single base substitution C G intron_variant BRCA-FR 17 61650240 61650240 single base substitution C T intron_variant BRCA-FR 17 61650540 61650540 single base substitution C T intron_variant BRCA-FR 17 61651444 61651444 single base substitution C T intron_variant BRCA-FR 17 61652055 61652055 single base substitution C G intron_variant BRCA-FR 17 61653924 61653924 single base substitution G A intron_variant BRCA-FR 17 61654098 61654098 single base substitution G A intron_variant BRCA-FR 17 61654427 61654427 single base substitution G A intron_variant BRCA-FR 17 61662894 61662894 single base substitution C G downstream_gene_variant BRCA-FR 17 61662894 61662894 single base substitution C G intron_variant BRCA-FR 17 61662894 61662894 single base substitution C G upstream_gene_variant BRCA-FR 17 61671410 61671410 single base substitution T C 3_prime_UTR_variant BRCA-FR 17 61671410 61671410 single base substitution T C downstream_gene_variant BRCA-FR 17 61671410 61671410 single base substitution T C exon_variant BRCA-FR 17 61671410 61671410 single base substitution T C intron_variant BRCA-FR 17 61674227 61674227 single base substitution C G downstream_gene_variant BRCA-KR 17 61628038 61628038 single base substitution C T 5_prime_UTR_variant BRCA-KR 17 61628038 61628038 single base substitution C T exon_variant BRCA-KR 17 61662567 61662567 single base substitution C T intron_variant BRCA-KR 17 61662567 61662567 single base substitution C T splice_region_variant BRCA-KR 17 61662567 61662567 single base substitution C T upstream_gene_variant BRCA-US 17 61623093 61623093 single base substitution G C upstream_gene_variant BRCA-US 17 61661011 61661011 single base substitution C T exon_variant BRCA-US 17 61661011 61661011 single base substitution C T intron_variant BRCA-US 17 61661011 61661011 single base substitution C T missense_variant R226C 676C>T BRCA-US 17 61662631 61662631 single base substitution G A downstream_gene_variant BRCA-US 17 61662631 61662631 single base substitution G A exon_variant BRCA-US 17 61662631 61662631 single base substitution G A intron_variant BRCA-US 17 61662631 61662631 single base substitution G A missense_variant R266Q 797G>A BRCA-US 17 61662631 61662631 single base substitution G A missense_variant R66Q 197G>A BRCA-US 17 61662631 61662631 single base substitution G A upstream_gene_variant BTCA-JP 17 61657286 61657286 single base substitution G A exon_variant BTCA-JP 17 61657286 61657286 single base substitution G A intron_variant BTCA-JP 17 61657286 61657286 single base substitution G A synonymous_variant L170L 510G>A BTCA-JP 17 61666731 61666731 single base substitution G A 3_prime_UTR_variant BTCA-JP 17 61666731 61666731 single base substitution G A downstream_gene_variant BTCA-JP 17 61666731 61666731 single base substitution G A exon_variant BTCA-JP 17 61666731 61666731 single base substitution G A intron_variant CESC-US 17 61666384 61666384 single base substitution C T downstream_gene_variant CESC-US 17 61666384 61666384 single base substitution C T exon_variant CESC-US 17 61666384 61666384 single base substitution C T intron_variant CESC-US 17 61666384 61666384 single base substitution C T synonymous_variant I293I 879C>T CESC-US 17 61666384 61666384 single base substitution C T synonymous_variant I93I 279C>T CESC-US 17 61666384 61666384 single base substitution C T upstream_gene_variant CESC-US 17 61666705 61666705 single base substitution C G 3_prime_UTR_variant CESC-US 17 61666705 61666705 single base substitution C G downstream_gene_variant CESC-US 17 61666705 61666705 single base substitution C G exon_variant CESC-US 17 61666705 61666705 single base substitution C G intron_variant CESC-US 17 61670999 61670999 single base substitution G A 3_prime_UTR_variant CESC-US 17 61670999 61670999 single base substitution G A downstream_gene_variant CESC-US 17 61670999 61670999 single base substitution G A exon_variant CESC-US 17 61670999 61670999 single base substitution G A intron_variant CESC-US 17 61671187 61671187 single base substitution T G 3_prime_UTR_variant CESC-US 17 61671187 61671187 single base substitution T G downstream_gene_variant CESC-US 17 61671187 61671187 single base substitution T G exon_variant CESC-US 17 61671187 61671187 single base substitution T G intron_variant CLLE-ES 17 61635141 61635141 single base substitution A T intron_variant CLLE-ES 17 61667386 61667386 single base substitution C G 3_prime_UTR_variant CLLE-ES 17 61667386 61667386 single base substitution C G downstream_gene_variant CLLE-ES 17 61667386 61667386 single base substitution C G exon_variant CLLE-ES 17 61667386 61667386 single base substitution C G intron_variant CLLE-ES 17 61675226 61675226 single base substitution A G downstream_gene_variant CLLE-ES 17 61676113 61676113 single base substitution A C downstream_gene_variant COAD-US 17 61623052 61623052 single base substitution C T upstream_gene_variant COAD-US 17 61656699 61656699 single base substitution T C intron_variant COAD-US 17 61656699 61656699 single base substitution T C missense_variant V100A 299T>C COAD-US 17 61656699 61656699 single base substitution T C splice_region_variant COAD-US 17 61661048 61661048 single base substitution C T exon_variant COAD-US 17 61661048 61661048 single base substitution C T intron_variant COAD-US 17 61661048 61661048 single base substitution C T missense_variant A238V 713C>T COCA-CN 17 61623092 61623092 single base substitution T C upstream_gene_variant COCA-CN 17 61628043 61628043 single base substitution C T exon_variant COCA-CN 17 61628043 61628043 single base substitution C T missense_variant S2F 5C>T COCA-CN 17 61660754 61660754 single base substitution T C intron_variant ESAD-UK 17 61624405 61624405 single base substitution C T upstream_gene_variant ESAD-UK 17 61626369 61626369 single base substitution C T upstream_gene_variant ESAD-UK 17 61630355 61630355 single base substitution A G downstream_gene_variant ESAD-UK 17 61630355 61630355 single base substitution A G intron_variant ESAD-UK 17 61632860 61632861 deletion of <=200bp TT - downstream_gene_variant ESAD-UK 17 61632860 61632861 deletion of <=200bp TT - intron_variant ESAD-UK 17 61636793 61636794 deletion of <=200bp TG - intron_variant ESAD-UK 17 61638045 61638045 single base substitution G A intron_variant ESAD-UK 17 61639176 61639176 deletion of <=200bp A - intron_variant ESAD-UK 17 61642241 61642241 single base substitution C G intron_variant ESAD-UK 17 61643875 61643875 single base substitution A C intron_variant ESAD-UK 17 61644482 61644482 single base substitution A T intron_variant ESAD-UK 17 61648229 61648229 single base substitution G C intron_variant ESAD-UK 17 61649089 61649089 single base substitution C T intron_variant ESAD-UK 17 61650701 61650701 single base substitution A G intron_variant ESAD-UK 17 61652787 61652787 single base substitution G A intron_variant ESAD-UK 17 61660476 61660476 single base substitution T C intron_variant ESAD-UK 17 61664696 61664696 insertion of <=200bp - TG downstream_gene_variant ESAD-UK 17 61664696 61664696 insertion of <=200bp - TG intron_variant ESAD-UK 17 61664696 61664696 insertion of <=200bp - TG upstream_gene_variant ESAD-UK 17 61671568 61671568 single base substitution C G 3_prime_UTR_variant ESAD-UK 17 61671568 61671568 single base substitution C G downstream_gene_variant ESAD-UK 17 61671568 61671568 single base substitution C G exon_variant ESAD-UK 17 61674031 61674031 single base substitution G A downstream_gene_variant GBM-US 17 61657190 61657190 single base substitution C A exon_variant GBM-US 17 61657190 61657190 single base substitution C A intron_variant GBM-US 17 61657190 61657190 single base substitution C A synonymous_variant T138T 414C>A KIRC-US 17 61622984 61622984 single base substitution A C upstream_gene_variant KIRC-US 17 61628100 61628100 single base substitution C T exon_variant KIRC-US 17 61628100 61628100 single base substitution C T missense_variant A21V 62C>T KIRP-US 17 61623068 61623068 single base substitution A G upstream_gene_variant KIRP-US 17 61623123 61623123 single base substitution C T upstream_gene_variant KIRP-US 17 61628109 61628109 single base substitution G T exon_variant KIRP-US 17 61628109 61628109 single base substitution G T missense_variant W24L 71G>T LAML-KR 17 61633681 61633681 single base substitution T A downstream_gene_variant LAML-KR 17 61633681 61633681 single base substitution T A intron_variant LICA-FR 17 61626984 61626984 single base substitution T C upstream_gene_variant LICA-FR 17 61636802 61636802 single base substitution A G intron_variant LICA-FR 17 61650706 61650706 single base substitution C T intron_variant LICA-FR 17 61651435 61651435 single base substitution C T intron_variant LICA-FR 17 61657264 61657264 single base substitution C G exon_variant LICA-FR 17 61657264 61657264 single base substitution C G intron_variant LICA-FR 17 61657264 61657264 single base substitution C G missense_variant S163C 488C>G LICA-FR 17 61660589 61660589 single base substitution C T intron_variant LIHC-US 17 61666468 61666468 single base substitution G T downstream_gene_variant LIHC-US 17 61666468 61666468 single base substitution G T exon_variant LIHC-US 17 61666468 61666468 single base substitution G T intron_variant LIHC-US 17 61666468 61666468 single base substitution G T missense_variant W121C 363G>T LIHC-US 17 61666468 61666468 single base substitution G T missense_variant W321C 963G>T LINC-JP 17 61623359 61623359 single base substitution T C upstream_gene_variant LINC-JP 17 61628253 61628253 single base substitution G A intron_variant LINC-JP 17 61639184 61639184 single base substitution T A intron_variant LINC-JP 17 61640281 61640281 single base substitution G C intron_variant LINC-JP 17 61646745 61646745 deletion of <=200bp A - intron_variant LINC-JP 17 61656705 61656705 single base substitution A G exon_variant LINC-JP 17 61656705 61656705 single base substitution A G intron_variant LINC-JP 17 61656705 61656705 single base substitution A G missense_variant E102G 305A>G LINC-JP 17 61657800 61657800 single base substitution A G intron_variant LINC-JP 17 61660867 61660867 single base substitution A G exon_variant LINC-JP 17 61660867 61660867 single base substitution A G intron_variant LINC-JP 17 61660867 61660867 single base substitution A G missense_variant Y178C 533A>G LINC-JP 17 61664178 61664178 single base substitution A G downstream_gene_variant LINC-JP 17 61664178 61664178 single base substitution A G intron_variant LINC-JP 17 61664178 61664178 single base substitution A G upstream_gene_variant LINC-JP 17 61664689 61664689 deletion of <=200bp T - downstream_gene_variant LINC-JP 17 61664689 61664689 deletion of <=200bp T - intron_variant LINC-JP 17 61664689 61664689 deletion of <=200bp T - upstream_gene_variant LINC-JP 17 61666311 61666311 single base substitution A G downstream_gene_variant LINC-JP 17 61666311 61666311 single base substitution A G intron_variant LINC-JP 17 61666311 61666311 single base substitution A G upstream_gene_variant LINC-JP 17 61666545 61666545 single base substitution G A 3_prime_UTR_variant LINC-JP 17 61666545 61666545 single base substitution G A downstream_gene_variant LINC-JP 17 61666545 61666545 single base substitution G A exon_variant LINC-JP 17 61666545 61666545 single base substitution G A intron_variant LIRI-JP 17 61622936 61622936 single base substitution C T upstream_gene_variant LIRI-JP 17 61627453 61627453 single base substitution T C upstream_gene_variant LIRI-JP 17 61629987 61629987 single base substitution C A downstream_gene_variant LIRI-JP 17 61629987 61629987 single base substitution C A intron_variant LIRI-JP 17 61633103 61633103 single base substitution A T downstream_gene_variant LIRI-JP 17 61633103 61633103 single base substitution A T intron_variant LIRI-JP 17 61634555 61634555 single base substitution A G downstream_gene_variant LIRI-JP 17 61634555 61634555 single base substitution A G intron_variant LIRI-JP 17 61634897 61634897 single base substitution A T downstream_gene_variant LIRI-JP 17 61634897 61634897 single base substitution A T intron_variant LIRI-JP 17 61637678 61637678 single base substitution A G intron_variant LIRI-JP 17 61641409 61641409 single base substitution A G intron_variant LIRI-JP 17 61644310 61644310 single base substitution T C intron_variant LIRI-JP 17 61645622 61645622 single base substitution A G intron_variant LIRI-JP 17 61650062 61650062 single base substitution A G intron_variant LIRI-JP 17 61650594 61650594 single base substitution A G intron_variant LIRI-JP 17 61656865 61656865 single base substitution C T intron_variant LIRI-JP 17 61657112 61657112 single base substitution T C intron_variant LIRI-JP 17 61658361 61658361 single base substitution G A intron_variant LIRI-JP 17 61658718 61658718 single base substitution A G intron_variant LIRI-JP 17 61658816 61658816 single base substitution A G intron_variant LIRI-JP 17 61659146 61659146 single base substitution T C intron_variant LIRI-JP 17 61660530 61660530 single base substitution C T intron_variant LIRI-JP 17 61660976 61660976 single base substitution T G exon_variant LIRI-JP 17 61660976 61660976 single base substitution T G intron_variant LIRI-JP 17 61660976 61660976 single base substitution T G missense_variant I214S 641T>G LIRI-JP 17 61661389 61661389 single base substitution A C intron_variant LIRI-JP 17 61662302 61662302 single base substitution C T intron_variant LIRI-JP 17 61662302 61662302 single base substitution C T upstream_gene_variant LIRI-JP 17 61668257 61668257 single base substitution G A 3_prime_UTR_variant LIRI-JP 17 61668257 61668257 single base substitution G A downstream_gene_variant LIRI-JP 17 61668257 61668257 single base substitution G A exon_variant LIRI-JP 17 61668257 61668257 single base substitution G A intron_variant LIRI-JP 17 61668481 61668481 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 61668481 61668481 single base substitution T C downstream_gene_variant LIRI-JP 17 61668481 61668481 single base substitution T C exon_variant LIRI-JP 17 61668481 61668481 single base substitution T C intron_variant LIRI-JP 17 61669195 61669195 single base substitution C A 3_prime_UTR_variant LIRI-JP 17 61669195 61669195 single base substitution C A downstream_gene_variant LIRI-JP 17 61669195 61669195 single base substitution C A exon_variant LIRI-JP 17 61669195 61669195 single base substitution C A intron_variant LIRI-JP 17 61670758 61670758 single base substitution T G 3_prime_UTR_variant LIRI-JP 17 61670758 61670758 single base substitution T G downstream_gene_variant LIRI-JP 17 61670758 61670758 single base substitution T G exon_variant LIRI-JP 17 61670758 61670758 single base substitution T G intron_variant LIRI-JP 17 61671318 61671318 single base substitution G T 3_prime_UTR_variant LIRI-JP 17 61671318 61671318 single base substitution G T downstream_gene_variant LIRI-JP 17 61671318 61671318 single base substitution G T exon_variant LIRI-JP 17 61671318 61671318 single base substitution G T intron_variant LIRI-JP 17 61672238 61672238 single base substitution A T downstream_gene_variant LIRI-JP 17 61672245 61672245 single base substitution A G downstream_gene_variant LIRI-JP 17 61672582 61672582 single base substitution A T downstream_gene_variant LIRI-JP 17 61672916 61672916 single base substitution G C downstream_gene_variant LIRI-JP 17 61672969 61672972 deletion of <=200bp CTTC - downstream_gene_variant LIRI-JP 17 61675245 61675245 single base substitution G T downstream_gene_variant LIRI-JP 17 61676207 61676207 single base substitution G A downstream_gene_variant LUSC-CN 17 61668135 61668135 single base substitution T G 3_prime_UTR_variant LUSC-CN 17 61668135 61668135 single base substitution T G downstream_gene_variant LUSC-CN 17 61668135 61668135 single base substitution T G exon_variant LUSC-CN 17 61668135 61668135 single base substitution T G intron_variant LUSC-KR 17 61623828 61623828 single base substitution G C upstream_gene_variant LUSC-KR 17 61627576 61627576 single base substitution C T upstream_gene_variant LUSC-KR 17 61627879 61627879 single base substitution C A 5_prime_UTR_variant LUSC-KR 17 61627879 61627879 single base substitution C A exon_variant LUSC-KR 17 61627879 61627879 single base substitution C A upstream_gene_variant LUSC-KR 17 61632417 61632417 single base substitution G T downstream_gene_variant LUSC-KR 17 61632417 61632417 single base substitution G T intron_variant LUSC-KR 17 61638574 61638574 single base substitution T G intron_variant LUSC-KR 17 61646388 61646388 single base substitution C T intron_variant LUSC-KR 17 61647834 61647834 single base substitution T A intron_variant LUSC-KR 17 61649784 61649784 single base substitution G T intron_variant LUSC-KR 17 61663069 61663069 single base substitution C T downstream_gene_variant LUSC-KR 17 61663069 61663069 single base substitution C T intron_variant LUSC-KR 17 61663069 61663069 single base substitution C T upstream_gene_variant LUSC-KR 17 61663206 61663206 single base substitution G A downstream_gene_variant LUSC-KR 17 61663206 61663206 single base substitution G A intron_variant LUSC-KR 17 61663206 61663206 single base substitution G A upstream_gene_variant LUSC-KR 17 61666342 61666342 single base substitution C T downstream_gene_variant LUSC-KR 17 61666342 61666342 single base substitution C T intron_variant LUSC-KR 17 61666342 61666342 single base substitution C T upstream_gene_variant LUSC-KR 17 61666928 61666928 single base substitution C T 3_prime_UTR_variant LUSC-KR 17 61666928 61666928 single base substitution C T downstream_gene_variant LUSC-KR 17 61666928 61666928 single base substitution C T exon_variant LUSC-KR 17 61666928 61666928 single base substitution C T intron_variant LUSC-KR 17 61668995 61668995 single base substitution G T 3_prime_UTR_variant LUSC-KR 17 61668995 61668995 single base substitution G T downstream_gene_variant LUSC-KR 17 61668995 61668995 single base substitution G T exon_variant LUSC-KR 17 61668995 61668995 single base substitution G T intron_variant LUSC-KR 17 61669960 61669960 single base substitution G C 3_prime_UTR_variant LUSC-KR 17 61669960 61669960 single base substitution G C downstream_gene_variant LUSC-KR 17 61669960 61669960 single base substitution G C exon_variant LUSC-KR 17 61669960 61669960 single base substitution G C intron_variant LUSC-US 17 61661022 61661022 single base substitution G C exon_variant LUSC-US 17 61661022 61661022 single base substitution G C intron_variant LUSC-US 17 61661022 61661022 single base substitution G C missense_variant W229C 687G>C MALY-DE 17 61633432 61633432 single base substitution A C downstream_gene_variant MALY-DE 17 61633432 61633432 single base substitution A C intron_variant MALY-DE 17 61638136 61638136 single base substitution A G intron_variant MALY-DE 17 61649698 61649698 single base substitution C T intron_variant MALY-DE 17 61657459 61657459 single base substitution C T intron_variant MALY-DE 17 61674192 61674192 single base substitution G A downstream_gene_variant MELA-AU 17 61623268 61623268 single base substitution C T upstream_gene_variant MELA-AU 17 61623290 61623290 single base substitution G A upstream_gene_variant MELA-AU 17 61623336 61623336 single base substitution C T upstream_gene_variant MELA-AU 17 61623413 61623413 single base substitution G A upstream_gene_variant MELA-AU 17 61623912 61623912 single base substitution G A upstream_gene_variant MELA-AU 17 61623928 61623928 single base substitution C T upstream_gene_variant MELA-AU 17 61624011 61624011 single base substitution C T upstream_gene_variant MELA-AU 17 61624039 61624039 single base substitution G A upstream_gene_variant MELA-AU 17 61624276 61624276 single base substitution G A upstream_gene_variant MELA-AU 17 61624302 61624302 single base substitution G A upstream_gene_variant MELA-AU 17 61624541 61624541 single base substitution G A upstream_gene_variant MELA-AU 17 61624708 61624708 single base substitution C T upstream_gene_variant MELA-AU 17 61625102 61625102 single base substitution G A upstream_gene_variant MELA-AU 17 61625120 61625120 single base substitution G A upstream_gene_variant MELA-AU 17 61625300 61625301 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 61625578 61625578 single base substitution G A upstream_gene_variant MELA-AU 17 61626103 61626103 single base substitution G A upstream_gene_variant MELA-AU 17 61626682 61626682 single base substitution G A upstream_gene_variant MELA-AU 17 61627136 61627136 single base substitution T C upstream_gene_variant MELA-AU 17 61627635 61627635 single base substitution G A upstream_gene_variant MELA-AU 17 61627638 61627638 single base substitution T C upstream_gene_variant MELA-AU 17 61627686 61627686 single base substitution G A upstream_gene_variant MELA-AU 17 61627687 61627687 single base substitution G A upstream_gene_variant MELA-AU 17 61627733 61627734 multiple base substitution (>=2bp and <=200bp) CC TA upstream_gene_variant MELA-AU 17 61627734 61627734 single base substitution C T upstream_gene_variant MELA-AU 17 61627739 61627739 single base substitution G A upstream_gene_variant MELA-AU 17 61627795 61627795 single base substitution C T upstream_gene_variant MELA-AU 17 61627831 61627831 single base substitution G A 5_prime_UTR_variant MELA-AU 17 61627831 61627831 single base substitution G A exon_variant MELA-AU 17 61627831 61627831 single base substitution G A upstream_gene_variant MELA-AU 17 61627832 61627832 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 61627832 61627832 single base substitution G A exon_variant MELA-AU 17 61627832 61627832 single base substitution G A upstream_gene_variant MELA-AU 17 61627907 61627907 single base substitution C T 5_prime_UTR_variant MELA-AU 17 61627907 61627907 single base substitution C T exon_variant MELA-AU 17 61627907 61627907 single base substitution C T upstream_gene_variant MELA-AU 17 61627967 61627967 single base substitution G A 5_prime_UTR_variant MELA-AU 17 61627967 61627967 single base substitution G A exon_variant MELA-AU 17 61628462 61628462 single base substitution G C intron_variant MELA-AU 17 61628498 61628498 single base substitution C G intron_variant MELA-AU 17 61628894 61628894 single base substitution C T intron_variant MELA-AU 17 61630039 61630039 single base substitution C T downstream_gene_variant MELA-AU 17 61630039 61630039 single base substitution C T intron_variant MELA-AU 17 61630806 61630806 single base substitution G A downstream_gene_variant MELA-AU 17 61630806 61630806 single base substitution G A intron_variant MELA-AU 17 61630910 61630910 single base substitution G A downstream_gene_variant MELA-AU 17 61630910 61630910 single base substitution G A intron_variant MELA-AU 17 61631323 61631323 single base substitution G A downstream_gene_variant MELA-AU 17 61631323 61631323 single base substitution G A intron_variant MELA-AU 17 61631882 61631882 single base substitution C T downstream_gene_variant MELA-AU 17 61631882 61631882 single base substitution C T intron_variant MELA-AU 17 61632083 61632083 single base substitution C T downstream_gene_variant MELA-AU 17 61632083 61632083 single base substitution C T intron_variant MELA-AU 17 61632541 61632541 single base substitution C G downstream_gene_variant MELA-AU 17 61632541 61632541 single base substitution C G intron_variant MELA-AU 17 61632886 61632886 single base substitution C T downstream_gene_variant MELA-AU 17 61632886 61632886 single base substitution C T intron_variant MELA-AU 17 61633025 61633025 single base substitution C T downstream_gene_variant MELA-AU 17 61633025 61633025 single base substitution C T intron_variant MELA-AU 17 61633148 61633148 single base substitution C T downstream_gene_variant MELA-AU 17 61633148 61633148 single base substitution C T intron_variant MELA-AU 17 61633150 61633151 multiple base substitution (>=2bp and <=200bp) TT AA downstream_gene_variant MELA-AU 17 61633150 61633151 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 17 61633718 61633718 single base substitution G C downstream_gene_variant MELA-AU 17 61633718 61633718 single base substitution G C intron_variant MELA-AU 17 61633862 61633862 single base substitution A G downstream_gene_variant MELA-AU 17 61633862 61633862 single base substitution A G intron_variant MELA-AU 17 61634554 61634554 single base substitution C T downstream_gene_variant MELA-AU 17 61634554 61634554 single base substitution C T intron_variant MELA-AU 17 61635256 61635256 single base substitution C T intron_variant MELA-AU 17 61635766 61635766 single base substitution T C intron_variant MELA-AU 17 61636499 61636499 single base substitution C T intron_variant MELA-AU 17 61637176 61637176 single base substitution C T intron_variant MELA-AU 17 61638016 61638016 single base substitution A G intron_variant MELA-AU 17 61640302 61640302 single base substitution C T intron_variant MELA-AU 17 61640443 61640443 single base substitution C T intron_variant MELA-AU 17 61641176 61641176 insertion of <=200bp - AAAT intron_variant MELA-AU 17 61641208 61641208 single base substitution A G intron_variant MELA-AU 17 61641963 61641963 single base substitution C T intron_variant MELA-AU 17 61641999 61641999 single base substitution G A intron_variant MELA-AU 17 61642619 61642619 single base substitution G C intron_variant MELA-AU 17 61642818 61642819 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 61643480 61643480 single base substitution C T intron_variant MELA-AU 17 61643573 61643573 single base substitution T C intron_variant MELA-AU 17 61644096 61644096 single base substitution C T intron_variant MELA-AU 17 61644760 61644760 single base substitution C T intron_variant MELA-AU 17 61644858 61644858 single base substitution T A intron_variant MELA-AU 17 61645033 61645033 single base substitution C T intron_variant MELA-AU 17 61645036 61645036 single base substitution C T intron_variant MELA-AU 17 61645140 61645140 single base substitution C T intron_variant MELA-AU 17 61645339 61645339 single base substitution A G intron_variant MELA-AU 17 61645704 61645704 single base substitution C T intron_variant MELA-AU 17 61645827 61645827 single base substitution T C intron_variant MELA-AU 17 61645834 61645834 single base substitution T C intron_variant MELA-AU 17 61646695 61646695 single base substitution C T intron_variant MELA-AU 17 61646859 61646860 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 61647073 61647073 single base substitution T G intron_variant MELA-AU 17 61649166 61649167 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 61650071 61650071 single base substitution G A intron_variant MELA-AU 17 61650630 61650630 single base substitution C T intron_variant MELA-AU 17 61651692 61651692 single base substitution C T intron_variant MELA-AU 17 61651784 61651784 single base substitution C T intron_variant MELA-AU 17 61651832 61651832 single base substitution G A intron_variant MELA-AU 17 61653392 61653392 single base substitution C T intron_variant MELA-AU 17 61653802 61653802 single base substitution C T intron_variant MELA-AU 17 61656235 61656235 single base substitution G C intron_variant MELA-AU 17 61656691 61656691 single base substitution C T intron_variant MELA-AU 17 61656691 61656691 single base substitution C T splice_region_variant MELA-AU 17 61656699 61656699 single base substitution T C intron_variant MELA-AU 17 61656699 61656699 single base substitution T C missense_variant V100A 299T>C MELA-AU 17 61656699 61656699 single base substitution T C splice_region_variant MELA-AU 17 61657097 61657097 single base substitution C T intron_variant MELA-AU 17 61658231 61658231 single base substitution C T intron_variant MELA-AU 17 61658243 61658243 single base substitution C T intron_variant MELA-AU 17 61658932 61658932 single base substitution C T intron_variant MELA-AU 17 61659060 61659060 single base substitution T G intron_variant MELA-AU 17 61659655 61659655 single base substitution C T intron_variant MELA-AU 17 61659820 61659820 single base substitution C T intron_variant MELA-AU 17 61660115 61660115 single base substitution C T intron_variant MELA-AU 17 61660762 61660762 single base substitution C T intron_variant MELA-AU 17 61661083 61661083 single base substitution C T intron_variant MELA-AU 17 61661083 61661084 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 61661443 61661443 single base substitution C T intron_variant MELA-AU 17 61661443 61661443 single base substitution C T upstream_gene_variant MELA-AU 17 61661486 61661486 single base substitution C T intron_variant MELA-AU 17 61661486 61661486 single base substitution C T upstream_gene_variant MELA-AU 17 61662288 61662288 single base substitution C T intron_variant MELA-AU 17 61662288 61662288 single base substitution C T upstream_gene_variant MELA-AU 17 61662363 61662363 single base substitution T C intron_variant MELA-AU 17 61662363 61662363 single base substitution T C upstream_gene_variant MELA-AU 17 61662419 61662419 single base substitution C T intron_variant MELA-AU 17 61662419 61662419 single base substitution C T upstream_gene_variant MELA-AU 17 61662826 61662826 single base substitution C T downstream_gene_variant MELA-AU 17 61662826 61662826 single base substitution C T intron_variant MELA-AU 17 61662826 61662826 single base substitution C T upstream_gene_variant MELA-AU 17 61663374 61663374 single base substitution C T downstream_gene_variant MELA-AU 17 61663374 61663374 single base substitution C T intron_variant MELA-AU 17 61663374 61663374 single base substitution C T upstream_gene_variant MELA-AU 17 61663456 61663456 single base substitution C T downstream_gene_variant MELA-AU 17 61663456 61663456 single base substitution C T intron_variant MELA-AU 17 61663456 61663456 single base substitution C T upstream_gene_variant MELA-AU 17 61663517 61663517 single base substitution C T downstream_gene_variant MELA-AU 17 61663517 61663517 single base substitution C T intron_variant MELA-AU 17 61663517 61663517 single base substitution C T upstream_gene_variant MELA-AU 17 61663678 61663678 single base substitution T A downstream_gene_variant MELA-AU 17 61663678 61663678 single base substitution T A intron_variant MELA-AU 17 61663678 61663678 single base substitution T A upstream_gene_variant MELA-AU 17 61663959 61663959 single base substitution C T downstream_gene_variant MELA-AU 17 61663959 61663959 single base substitution C T intron_variant MELA-AU 17 61663959 61663959 single base substitution C T upstream_gene_variant MELA-AU 17 61664529 61664529 single base substitution C T downstream_gene_variant MELA-AU 17 61664529 61664529 single base substitution C T intron_variant MELA-AU 17 61664529 61664529 single base substitution C T upstream_gene_variant MELA-AU 17 61665050 61665050 single base substitution G A downstream_gene_variant MELA-AU 17 61665050 61665050 single base substitution G A intron_variant MELA-AU 17 61665050 61665050 single base substitution G A upstream_gene_variant MELA-AU 17 61665732 61665732 single base substitution T C downstream_gene_variant MELA-AU 17 61665732 61665732 single base substitution T C intron_variant MELA-AU 17 61665732 61665732 single base substitution T C upstream_gene_variant MELA-AU 17 61666146 61666146 single base substitution C T downstream_gene_variant MELA-AU 17 61666146 61666146 single base substitution C T intron_variant MELA-AU 17 61666146 61666146 single base substitution C T upstream_gene_variant MELA-AU 17 61666221 61666221 single base substitution C T downstream_gene_variant MELA-AU 17 61666221 61666221 single base substitution C T intron_variant MELA-AU 17 61666221 61666221 single base substitution C T upstream_gene_variant MELA-AU 17 61667092 61667092 single base substitution C T 3_prime_UTR_variant MELA-AU 17 61667092 61667092 single base substitution C T downstream_gene_variant MELA-AU 17 61667092 61667092 single base substitution C T exon_variant MELA-AU 17 61667092 61667092 single base substitution C T intron_variant MELA-AU 17 61667217 61667217 single base substitution C T 3_prime_UTR_variant MELA-AU 17 61667217 61667217 single base substitution C T downstream_gene_variant MELA-AU 17 61667217 61667217 single base substitution C T exon_variant MELA-AU 17 61667217 61667217 single base substitution C T intron_variant MELA-AU 17 61667974 61667974 single base substitution C T 3_prime_UTR_variant MELA-AU 17 61667974 61667974 single base substitution C T downstream_gene_variant MELA-AU 17 61667974 61667974 single base substitution C T exon_variant MELA-AU 17 61667974 61667974 single base substitution C T intron_variant MELA-AU 17 61668317 61668317 single base substitution C T 3_prime_UTR_variant MELA-AU 17 61668317 61668317 single base substitution C T downstream_gene_variant MELA-AU 17 61668317 61668317 single base substitution C T exon_variant MELA-AU 17 61668317 61668317 single base substitution C T intron_variant MELA-AU 17 61668498 61668498 single base substitution T A 3_prime_UTR_variant MELA-AU 17 61668498 61668498 single base substitution T A downstream_gene_variant MELA-AU 17 61668498 61668498 single base substitution T A exon_variant MELA-AU 17 61668498 61668498 single base substitution T A intron_variant MELA-AU 17 61668792 61668792 single base substitution C T 3_prime_UTR_variant MELA-AU 17 61668792 61668792 single base substitution C T downstream_gene_variant MELA-AU 17 61668792 61668792 single base substitution C T exon_variant MELA-AU 17 61668792 61668792 single base substitution C T intron_variant MELA-AU 17 61669420 61669420 single base substitution C T 3_prime_UTR_variant MELA-AU 17 61669420 61669420 single base substitution C T downstream_gene_variant MELA-AU 17 61669420 61669420 single base substitution C T exon_variant MELA-AU 17 61669420 61669420 single base substitution C T intron_variant MELA-AU 17 61669802 61669802 single base substitution C T 3_prime_UTR_variant MELA-AU 17 61669802 61669802 single base substitution C T downstream_gene_variant MELA-AU 17 61669802 61669802 single base substitution C T exon_variant MELA-AU 17 61669802 61669802 single base substitution C T intron_variant MELA-AU 17 61669803 61669803 single base substitution C T 3_prime_UTR_variant MELA-AU 17 61669803 61669803 single base substitution C T downstream_gene_variant MELA-AU 17 61669803 61669803 single base substitution C T exon_variant MELA-AU 17 61669803 61669803 single base substitution C T intron_variant MELA-AU 17 61669864 61669864 single base substitution C T 3_prime_UTR_variant MELA-AU 17 61669864 61669864 single base substitution C T downstream_gene_variant MELA-AU 17 61669864 61669864 single base substitution C T exon_variant MELA-AU 17 61669864 61669864 single base substitution C T intron_variant MELA-AU 17 61669892 61669892 single base substitution T G 3_prime_UTR_variant MELA-AU 17 61669892 61669892 single base substitution T G downstream_gene_variant MELA-AU 17 61669892 61669892 single base substitution T G exon_variant MELA-AU 17 61669892 61669892 single base substitution T G intron_variant MELA-AU 17 61670349 61670349 single base substitution G A 3_prime_UTR_variant MELA-AU 17 61670349 61670349 single base substitution G A downstream_gene_variant MELA-AU 17 61670349 61670349 single base substitution G A exon_variant MELA-AU 17 61670349 61670349 single base substitution G A intron_variant MELA-AU 17 61670413 61670413 single base substitution C T 3_prime_UTR_variant MELA-AU 17 61670413 61670413 single base substitution C T downstream_gene_variant MELA-AU 17 61670413 61670413 single base substitution C T exon_variant MELA-AU 17 61670413 61670413 single base substitution C T intron_variant MELA-AU 17 61670686 61670686 single base substitution C T 3_prime_UTR_variant MELA-AU 17 61670686 61670686 single base substitution C T downstream_gene_variant MELA-AU 17 61670686 61670686 single base substitution C T exon_variant MELA-AU 17 61670686 61670686 single base substitution C T intron_variant MELA-AU 17 61670942 61670942 single base substitution C T 3_prime_UTR_variant MELA-AU 17 61670942 61670942 single base substitution C T downstream_gene_variant MELA-AU 17 61670942 61670942 single base substitution C T exon_variant MELA-AU 17 61670942 61670942 single base substitution C T intron_variant MELA-AU 17 61670986 61670986 single base substitution C A 3_prime_UTR_variant MELA-AU 17 61670986 61670986 single base substitution C A downstream_gene_variant MELA-AU 17 61670986 61670986 single base substitution C A exon_variant MELA-AU 17 61670986 61670986 single base substitution C A intron_variant MELA-AU 17 61672089 61672089 single base substitution C T downstream_gene_variant MELA-AU 17 61673095 61673095 single base substitution T A downstream_gene_variant MELA-AU 17 61673169 61673169 single base substitution A T downstream_gene_variant MELA-AU 17 61673967 61673967 single base substitution C T downstream_gene_variant MELA-AU 17 61674648 61674648 single base substitution C A downstream_gene_variant MELA-AU 17 61674667 61674667 single base substitution C T downstream_gene_variant MELA-AU 17 61674877 61674877 single base substitution C T downstream_gene_variant MELA-AU 17 61674881 61674881 single base substitution C T downstream_gene_variant MELA-AU 17 61676573 61676573 single base substitution C T downstream_gene_variant ORCA-IN 17 61647233 61647233 single base substitution T C intron_variant ORCA-IN 17 61664110 61664110 single base substitution G A downstream_gene_variant ORCA-IN 17 61664110 61664110 single base substitution G A intron_variant ORCA-IN 17 61664110 61664110 single base substitution G A upstream_gene_variant OV-AU 17 61625903 61625903 single base substitution A G upstream_gene_variant OV-AU 17 61627600 61627600 single base substitution A G upstream_gene_variant OV-AU 17 61627903 61627903 single base substitution G A 5_prime_UTR_variant OV-AU 17 61627903 61627903 single base substitution G A exon_variant OV-AU 17 61627903 61627903 single base substitution G A upstream_gene_variant OV-AU 17 61642882 61642882 single base substitution G A intron_variant OV-AU 17 61647759 61647759 single base substitution G T intron_variant OV-AU 17 61651107 61651107 single base substitution A C intron_variant OV-AU 17 61652421 61652421 single base substitution T C intron_variant OV-US 17 61662659 61662659 single base substitution C T downstream_gene_variant OV-US 17 61662659 61662659 single base substitution C T exon_variant OV-US 17 61662659 61662659 single base substitution C T intron_variant OV-US 17 61662659 61662659 single base substitution C T synonymous_variant A275A 825C>T OV-US 17 61662659 61662659 single base substitution C T synonymous_variant A75A 225C>T OV-US 17 61662659 61662659 single base substitution C T upstream_gene_variant PACA-AU 17 61623144 61623144 single base substitution G T upstream_gene_variant PACA-AU 17 61626219 61626219 single base substitution G A upstream_gene_variant PACA-AU 17 61629438 61629438 single base substitution C T intron_variant PACA-AU 17 61634230 61634230 insertion of <=200bp - A downstream_gene_variant PACA-AU 17 61634230 61634230 insertion of <=200bp - A intron_variant PACA-AU 17 61636792 61636792 single base substitution A G intron_variant PACA-AU 17 61639987 61639987 deletion of <=200bp G - intron_variant PACA-AU 17 61641176 61641176 insertion of <=200bp - AAAT intron_variant PACA-AU 17 61642099 61642099 single base substitution G T intron_variant PACA-AU 17 61646800 61646800 single base substitution T G intron_variant PACA-AU 17 61647138 61647138 single base substitution A G intron_variant PACA-AU 17 61648002 61648002 single base substitution C T intron_variant PACA-AU 17 61650007 61650007 single base substitution C G intron_variant PACA-AU 17 61650299 61650299 single base substitution T C intron_variant PACA-AU 17 61657260 61657260 single base substitution G A exon_variant PACA-AU 17 61657260 61657260 single base substitution G A intron_variant PACA-AU 17 61657260 61657260 single base substitution G A missense_variant V162M 484G>A PACA-AU 17 61662017 61662017 single base substitution G A intron_variant PACA-AU 17 61662017 61662017 single base substitution G A upstream_gene_variant PACA-AU 17 61665819 61665819 single base substitution A G downstream_gene_variant PACA-AU 17 61665819 61665819 single base substitution A G intron_variant PACA-AU 17 61665819 61665819 single base substitution A G upstream_gene_variant PACA-AU 17 61672912 61672912 single base substitution C T downstream_gene_variant PACA-AU 17 61675404 61675437 deletion of <=200bp CTTCTCAAAGTAAATATTACATATATATTTTTTT - downstream_gene_variant PACA-AU 17 61676411 61676411 single base substitution A G downstream_gene_variant PACA-CA 17 61623350 61623350 single base substitution C T upstream_gene_variant PACA-CA 17 61624169 61624169 single base substitution C T upstream_gene_variant PACA-CA 17 61627871 61627871 single base substitution G T 5_prime_UTR_variant PACA-CA 17 61627871 61627871 single base substitution G T exon_variant PACA-CA 17 61627871 61627871 single base substitution G T upstream_gene_variant PACA-CA 17 61629814 61629814 single base substitution G A exon_variant PACA-CA 17 61629814 61629814 single base substitution G A intron_variant PACA-CA 17 61633972 61633972 single base substitution G A downstream_gene_variant PACA-CA 17 61633972 61633972 single base substitution G A intron_variant PACA-CA 17 61634873 61634873 single base substitution A G downstream_gene_variant PACA-CA 17 61634873 61634873 single base substitution A G intron_variant PACA-CA 17 61636646 61636646 single base substitution C T intron_variant PACA-CA 17 61637421 61637421 single base substitution G A intron_variant PACA-CA 17 61638410 61638410 single base substitution C A intron_variant PACA-CA 17 61640873 61640873 single base substitution C T intron_variant PACA-CA 17 61641053 61641053 single base substitution C G intron_variant PACA-CA 17 61643703 61643703 single base substitution G A intron_variant PACA-CA 17 61652427 61652427 single base substitution C A intron_variant PACA-CA 17 61667915 61667915 single base substitution C T 3_prime_UTR_variant PACA-CA 17 61667915 61667915 single base substitution C T downstream_gene_variant PACA-CA 17 61667915 61667915 single base substitution C T exon_variant PACA-CA 17 61667915 61667915 single base substitution C T intron_variant PACA-CA 17 61668832 61668832 single base substitution A G 3_prime_UTR_variant PACA-CA 17 61668832 61668832 single base substitution A G downstream_gene_variant PACA-CA 17 61668832 61668832 single base substitution A G exon_variant PACA-CA 17 61668832 61668832 single base substitution A G intron_variant PACA-CA 17 61670022 61670022 single base substitution G T 3_prime_UTR_variant PACA-CA 17 61670022 61670022 single base substitution G T downstream_gene_variant PACA-CA 17 61670022 61670022 single base substitution G T exon_variant PACA-CA 17 61670022 61670022 single base substitution G T intron_variant PACA-CA 17 61670643 61670643 single base substitution C A 3_prime_UTR_variant PACA-CA 17 61670643 61670643 single base substitution C A downstream_gene_variant PACA-CA 17 61670643 61670643 single base substitution C A exon_variant PACA-CA 17 61670643 61670643 single base substitution C A intron_variant PACA-CA 17 61671424 61671425 deletion of <=200bp TG - 3_prime_UTR_variant PACA-CA 17 61671424 61671425 deletion of <=200bp TG - downstream_gene_variant PACA-CA 17 61671424 61671425 deletion of <=200bp TG - exon_variant PACA-CA 17 61671424 61671425 deletion of <=200bp TG - intron_variant PACA-CA 17 61673053 61673053 single base substitution C T downstream_gene_variant PACA-CA 17 61674855 61674855 deletion of <=200bp A - downstream_gene_variant PACA-CA 17 61676389 61676389 single base substitution A G downstream_gene_variant PAEN-AU 17 61669803 61669803 single base substitution C A 3_prime_UTR_variant PAEN-AU 17 61669803 61669803 single base substitution C A downstream_gene_variant PAEN-AU 17 61669803 61669803 single base substitution C A exon_variant PAEN-AU 17 61669803 61669803 single base substitution C A intron_variant PAEN-IT 17 61635618 61635618 single base substitution T A intron_variant PBCA-DE 17 61625154 61625154 deletion of <=200bp T - upstream_gene_variant PBCA-DE 17 61627408 61627408 single base substitution G C upstream_gene_variant PBCA-DE 17 61629033 61629033 single base substitution G A intron_variant PBCA-DE 17 61636728 61636728 single base substitution A G intron_variant PBCA-DE 17 61637506 61637506 deletion of <=200bp A - intron_variant PBCA-DE 17 61641498 61641499 deletion of <=200bp AC - intron_variant PBCA-DE 17 61659241 61659241 single base substitution G A intron_variant PBCA-DE 17 61659976 61659976 single base substitution C T intron_variant PBCA-DE 17 61674796 61674796 deletion of <=200bp T - downstream_gene_variant PBCA-DE 17 61674836 61674836 single base substitution C A downstream_gene_variant PRAD-CA 17 61625735 61625735 single base substitution C A upstream_gene_variant PRAD-CA 17 61636752 61636752 single base substitution A G intron_variant PRAD-CA 17 61636758 61636758 single base substitution A G intron_variant PRAD-CA 17 61636760 61636760 single base substitution G A intron_variant PRAD-CA 17 61640198 61640198 single base substitution C T intron_variant PRAD-CA 17 61646362 61646362 single base substitution A T intron_variant PRAD-CA 17 61654114 61654114 single base substitution A T intron_variant PRAD-CA 17 61668512 61668512 single base substitution G A 3_prime_UTR_variant PRAD-CA 17 61668512 61668512 single base substitution G A downstream_gene_variant PRAD-CA 17 61668512 61668512 single base substitution G A exon_variant PRAD-CA 17 61668512 61668512 single base substitution G A intron_variant PRAD-CA 17 61669773 61669773 single base substitution T A 3_prime_UTR_variant PRAD-CA 17 61669773 61669773 single base substitution T A downstream_gene_variant PRAD-CA 17 61669773 61669773 single base substitution T A exon_variant PRAD-CA 17 61669773 61669773 single base substitution T A intron_variant PRAD-UK 17 61638806 61638806 single base substitution A C intron_variant PRAD-UK 17 61644053 61644053 single base substitution G A intron_variant PRAD-UK 17 61645173 61645173 single base substitution A G intron_variant PRAD-UK 17 61663766 61663766 single base substitution G T downstream_gene_variant PRAD-UK 17 61663766 61663766 single base substitution G T intron_variant PRAD-UK 17 61663766 61663766 single base substitution G T upstream_gene_variant PRAD-UK 17 61669344 61669344 single base substitution A G 3_prime_UTR_variant PRAD-UK 17 61669344 61669344 single base substitution A G downstream_gene_variant PRAD-UK 17 61669344 61669344 single base substitution A G exon_variant PRAD-UK 17 61669344 61669344 single base substitution A G intron_variant RECA-EU 17 61641134 61641134 single base substitution C A intron_variant RECA-EU 17 61645402 61645402 single base substitution G A intron_variant RECA-EU 17 61666370 61666370 single base substitution C A downstream_gene_variant RECA-EU 17 61666370 61666370 single base substitution C A exon_variant RECA-EU 17 61666370 61666370 single base substitution C A intron_variant RECA-EU 17 61666370 61666370 single base substitution C A missense_variant H289N 865C>A RECA-EU 17 61666370 61666370 single base substitution C A missense_variant H89N 265C>A RECA-EU 17 61666370 61666370 single base substitution C A upstream_gene_variant RECA-EU 17 61666922 61666922 single base substitution C T 3_prime_UTR_variant RECA-EU 17 61666922 61666922 single base substitution C T downstream_gene_variant RECA-EU 17 61666922 61666922 single base substitution C T exon_variant RECA-EU 17 61666922 61666922 single base substitution C T intron_variant RECA-EU 17 61672822 61672822 single base substitution G C downstream_gene_variant SKCA-BR 17 61623238 61623238 single base substitution G A upstream_gene_variant SKCA-BR 17 61624296 61624296 single base substitution C T upstream_gene_variant SKCA-BR 17 61627640 61627640 single base substitution G A upstream_gene_variant SKCA-BR 17 61627687 61627687 single base substitution G A upstream_gene_variant SKCA-BR 17 61627725 61627725 single base substitution G A upstream_gene_variant SKCA-BR 17 61627784 61627784 single base substitution C T upstream_gene_variant SKCA-BR 17 61639620 61639620 single base substitution A G intron_variant SKCA-BR 17 61640054 61640054 single base substitution C T intron_variant SKCA-BR 17 61641175 61641179 deletion of <=200bp CAAAT - intron_variant SKCA-BR 17 61642764 61642764 single base substitution C T intron_variant SKCA-BR 17 61651091 61651091 insertion of <=200bp - CA intron_variant SKCA-BR 17 61656457 61656457 single base substitution G A intron_variant SKCA-BR 17 61659744 61659744 single base substitution C T intron_variant SKCA-BR 17 61660490 61660490 single base substitution A C intron_variant SKCA-BR 17 61664652 61664652 single base substitution C A downstream_gene_variant SKCA-BR 17 61664652 61664652 single base substitution C A intron_variant SKCA-BR 17 61664652 61664652 single base substitution C A upstream_gene_variant SKCA-BR 17 61666085 61666085 single base substitution T C downstream_gene_variant SKCA-BR 17 61666085 61666085 single base substitution T C intron_variant SKCA-BR 17 61666085 61666085 single base substitution T C upstream_gene_variant SKCA-BR 17 61666243 61666243 single base substitution T A downstream_gene_variant SKCA-BR 17 61666243 61666243 single base substitution T A intron_variant SKCA-BR 17 61666243 61666243 single base substitution T A upstream_gene_variant SKCA-BR 17 61669560 61669560 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 61669560 61669560 single base substitution C T downstream_gene_variant SKCA-BR 17 61669560 61669560 single base substitution C T exon_variant SKCA-BR 17 61669560 61669560 single base substitution C T intron_variant SKCA-BR 17 61669802 61669802 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 61669802 61669802 single base substitution C T downstream_gene_variant SKCA-BR 17 61669802 61669802 single base substitution C T exon_variant SKCA-BR 17 61669802 61669802 single base substitution C T intron_variant SKCA-BR 17 61670687 61670687 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 61670687 61670687 single base substitution C T downstream_gene_variant SKCA-BR 17 61670687 61670687 single base substitution C T exon_variant SKCA-BR 17 61670687 61670687 single base substitution C T intron_variant SKCA-BR 17 61670723 61670723 insertion of <=200bp - CA 3_prime_UTR_variant SKCA-BR 17 61670723 61670723 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 17 61670723 61670723 insertion of <=200bp - CA exon_variant SKCA-BR 17 61670723 61670723 insertion of <=200bp - CA intron_variant SKCA-BR 17 61672069 61672069 single base substitution C T downstream_gene_variant SKCM-US 17 61623070 61623070 single base substitution C T upstream_gene_variant SKCM-US 17 61623078 61623078 single base substitution G A upstream_gene_variant SKCM-US 17 61623084 61623084 single base substitution G A upstream_gene_variant SKCM-US 17 61623180 61623180 single base substitution G A upstream_gene_variant SKCM-US 17 61623198 61623198 single base substitution C T upstream_gene_variant SKCM-US 17 61623248 61623248 single base substitution G A upstream_gene_variant SKCM-US 17 61623250 61623250 single base substitution G A upstream_gene_variant SKCM-US 17 61657259 61657259 single base substitution C T exon_variant SKCM-US 17 61657259 61657259 single base substitution C T intron_variant SKCM-US 17 61657259 61657259 single base substitution C T synonymous_variant L161L 483C>T SKCM-US 17 61660954 61660954 single base substitution C T exon_variant SKCM-US 17 61660954 61660954 single base substitution C T intron_variant SKCM-US 17 61660954 61660954 single base substitution C T missense_variant R207C 619C>T SKCM-US 17 61666411 61666411 single base substitution C T downstream_gene_variant SKCM-US 17 61666411 61666411 single base substitution C T exon_variant SKCM-US 17 61666411 61666411 single base substitution C T intron_variant SKCM-US 17 61666411 61666411 single base substitution C T synonymous_variant A102A 306C>T SKCM-US 17 61666411 61666411 single base substitution C T synonymous_variant A302A 906C>T SKCM-US 17 61666411 61666411 single base substitution C T upstream_gene_variant STAD-US 17 61628105 61628105 single base substitution A T exon_variant STAD-US 17 61628105 61628105 single base substitution A T missense_variant N23Y 67A>T STAD-US 17 61657219 61657219 deletion of <=200bp G - exon_variant STAD-US 17 61657219 61657219 deletion of <=200bp G - frameshift_variant W148 STAD-US 17 61657219 61657219 deletion of <=200bp G - intron_variant STAD-US 17 61657219 61657219 deletion of <=200bp G - splice_region_variant STAD-US 17 61660984 61660984 single base substitution G A exon_variant STAD-US 17 61660984 61660984 single base substitution G A intron_variant STAD-US 17 61660984 61660984 single base substitution G A missense_variant E217K 649G>A UCEC-US 17 61623048 61623048 single base substitution G A upstream_gene_variant UCEC-US 17 61628117 61628117 single base substitution C T exon_variant UCEC-US 17 61628117 61628117 single base substitution C T missense_variant R27W 79C>T UCEC-US 17 61628172 61628172 single base substitution A G exon_variant UCEC-US 17 61628172 61628172 single base substitution A G missense_variant N45S 134A>G UCEC-US 17 61656741 61656741 single base substitution A G exon_variant UCEC-US 17 61656741 61656741 single base substitution A G intron_variant UCEC-US 17 61656741 61656741 single base substitution A G missense_variant N114S 341A>G UCEC-US 17 61656799 61656799 single base substitution T C exon_variant UCEC-US 17 61656799 61656799 single base substitution T C intron_variant UCEC-US 17 61656799 61656799 single base substitution T C synonymous_variant P133P 399T>C UCEC-US 17 61657290 61657290 single base substitution G A exon_variant UCEC-US 17 61657290 61657290 single base substitution G A intron_variant UCEC-US 17 61657290 61657290 single base substitution G A missense_variant A172T 514G>A UCEC-US 17 61662602 61662602 single base substitution C T exon_variant UCEC-US 17 61662602 61662602 single base substitution C T intron_variant UCEC-US 17 61662602 61662602 single base substitution C T synonymous_variant C256C 768C>T UCEC-US 17 61662602 61662602 single base substitution C T synonymous_variant C56C 168C>T UCEC-US 17 61662602 61662602 single base substitution C T upstream_gene_variant UCEC-US 17 61662609 61662609 single base substitution G A exon_variant UCEC-US 17 61662609 61662609 single base substitution G A intron_variant UCEC-US 17 61662609 61662609 single base substitution G A missense_variant V259I 775G>A UCEC-US 17 61662609 61662609 single base substitution G A missense_variant V59I 175G>A UCEC-US 17 61662609 61662609 single base substitution G A upstream_gene_variant UCEC-US 17 61662638 61662638 single base substitution T C downstream_gene_variant UCEC-US 17 61662638 61662638 single base substitution T C exon_variant UCEC-US 17 61662638 61662638 single base substitution T C intron_variant UCEC-US 17 61662638 61662638 single base substitution T C synonymous_variant C268C 804T>C UCEC-US 17 61662638 61662638 single base substitution T C synonymous_variant C68C 204T>C UCEC-US 17 61662638 61662638 single base substitution T C upstream_gene_variant

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.410554;Hs.410561;Hs.410596 17q23.3 605973

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.K30R c.89A>G 17 61628127 LUAD C A Synonymous p.T138T c.414C>A 17 61657190 GBM C T Missense p.A21V c.62C>T 17 61628100 RCCC C T Synonymous p.A275A c.825C>T 17 61662659 OV C T Synonymous p.A302A c.906C>T 17 61666411 CM C T Synonymous p.C256C c.768C>T 17 61662602 UCEC C T Synonymous p.L161L c.483C>T 17 61657259 CM G A 3-UTRSNV . c.1026+1726G>A 17 61668257 HC G A Missense p.D243N c.727G>A 17 61661062 HNSC G A Missense p.G164D c.491G>A 17 61657267 LUAD G A Missense p.R266Q c.797G>A 17 61662631 BRCA G A Missense p.V259I c.775G>A 17 61662609 UCEC G C Missense p.D251H c.751G>C 17 61662585 BLCA G C Missense p.W229C c.687G>C 17 61661022 LUSC G C Missense p.W24C c.72G>C 17 61628110 BLCA G T Missense p.D86Y c.256G>T 17 61655948 LUAD G T Synonymous p.T143T c.429G>T 17 61657205 LUAD TC GG 3-UTRBlockSubstitution . c.1026+102_1026+103delinsGG 17 61666633 CM T C Missense p.I77T c.230T>C 17 61655922 CLL T C Synonymous p.C268C c.804T>C 17 61662638 UCEC T C Synonymous p.N270N c.810T>C 17 61662644 ESCA