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 79857411 79857411 + Intron SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr17:79857411G>A BRCA 17 79852414 79852414 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr17:79852414G>C c.61G>C c.(61-63)Gag>Cag p.E21Q GBMLGG 17 79857259 79857259 + Intron SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 g.chr17:79857259C>G KIPAN 17 79857246 79857246 + Intron SNP G G A TCGA-B8-4143-01A-01D-1806-10 TCGA-B8-4143-11A-01D-1251-10 g.chr17:79857246G>A KIRC 17 79857246 79857246 + Intron SNP G G A TCGA-B8-4143-01A-01D-1806-10 TCGA-B8-4143-11A-01D-1251-10 g.chr17:79857246G>A LGG 17 79857259 79857259 + Intron SNP C C G TCGA-E1-A7YE-01A-11D-A34A-08 TCGA-E1-A7YE-10A-01D-A34A-08 g.chr17:79857259C>G LIHC 17 79857927 79857927 + Nonsense_Mutation SNP A A T TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr17:79857927A>T c.241A>T c.(241-243)Aag>Tag p.K81* PCPG 17 79857351 79857351 + Intron SNP C C A TCGA-RW-A67X-01A-11D-A35D-08 TCGA-RW-A67X-10A-01D-A35B-08 g.chr17:79857351C>A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 17 79852384 79852384 single base substitution G A missense_variant V11M 31G>A ALL-US 17 79852384 79852384 single base substitution G A upstream_gene_variant ALL-US 17 79862805 79862805 single base substitution C T downstream_gene_variant BLCA-CN 17 79860585 79860585 single base substitution C G downstream_gene_variant BLCA-US 17 79846256 79846256 single base substitution C G upstream_gene_variant BLCA-US 17 79847100 79847100 single base substitution C T upstream_gene_variant BLCA-US 17 79860514 79860514 single base substitution G A downstream_gene_variant BOCA-UK 17 79846278 79846278 single base substitution T G upstream_gene_variant BRCA-EU 17 79843998 79843998 single base substitution C G upstream_gene_variant BRCA-EU 17 79844173 79844173 single base substitution T G upstream_gene_variant BRCA-EU 17 79844623 79844623 single base substitution C T upstream_gene_variant BRCA-EU 17 79845992 79845992 single base substitution G T upstream_gene_variant BRCA-EU 17 79846112 79846112 single base substitution C T upstream_gene_variant BRCA-EU 17 79847249 79847249 single base substitution C T upstream_gene_variant BRCA-EU 17 79849067 79849067 single base substitution C A intron_variant BRCA-EU 17 79849067 79849067 single base substitution C A upstream_gene_variant BRCA-EU 17 79849484 79849484 single base substitution G T intron_variant BRCA-EU 17 79849484 79849484 single base substitution G T upstream_gene_variant BRCA-EU 17 79849486 79849486 single base substitution C T intron_variant BRCA-EU 17 79849486 79849486 single base substitution C T upstream_gene_variant BRCA-EU 17 79849907 79849907 single base substitution G A 5_prime_UTR_variant BRCA-EU 17 79849907 79849907 single base substitution G A intron_variant BRCA-EU 17 79849907 79849907 single base substitution G A upstream_gene_variant BRCA-EU 17 79850370 79850370 single base substitution A G intron_variant BRCA-EU 17 79850370 79850370 single base substitution A G upstream_gene_variant BRCA-EU 17 79850738 79850738 single base substitution T C intron_variant BRCA-EU 17 79850738 79850738 single base substitution T C upstream_gene_variant BRCA-EU 17 79851253 79851253 single base substitution C T intron_variant BRCA-EU 17 79851253 79851253 single base substitution C T upstream_gene_variant BRCA-EU 17 79851688 79851688 single base substitution G A intron_variant BRCA-EU 17 79851688 79851688 single base substitution G A upstream_gene_variant BRCA-EU 17 79852198 79852198 single base substitution G A 5_prime_UTR_variant BRCA-EU 17 79852198 79852198 single base substitution G A intron_variant BRCA-EU 17 79852198 79852198 single base substitution G A upstream_gene_variant BRCA-EU 17 79852852 79852852 single base substitution C T downstream_gene_variant BRCA-EU 17 79852852 79852852 single base substitution C T intron_variant BRCA-EU 17 79852852 79852852 single base substitution C T upstream_gene_variant BRCA-EU 17 79854299 79854299 insertion of <=200bp - A downstream_gene_variant BRCA-EU 17 79854299 79854299 insertion of <=200bp - A intron_variant BRCA-EU 17 79854299 79854299 insertion of <=200bp - A upstream_gene_variant BRCA-EU 17 79854753 79854753 single base substitution A G downstream_gene_variant BRCA-EU 17 79854753 79854753 single base substitution A G intron_variant BRCA-EU 17 79854753 79854753 single base substitution A G upstream_gene_variant BRCA-EU 17 79855248 79855248 single base substitution G T downstream_gene_variant BRCA-EU 17 79855248 79855248 single base substitution G T intron_variant BRCA-EU 17 79855248 79855248 single base substitution G T upstream_gene_variant BRCA-EU 17 79856225 79856225 single base substitution G C downstream_gene_variant BRCA-EU 17 79856225 79856225 single base substitution G C exon_variant BRCA-EU 17 79856225 79856225 single base substitution G C intron_variant BRCA-EU 17 79856598 79856598 single base substitution A G downstream_gene_variant BRCA-EU 17 79856598 79856598 single base substitution A G exon_variant BRCA-EU 17 79856598 79856598 single base substitution A G intron_variant BRCA-EU 17 79857434 79857434 single base substitution T C downstream_gene_variant BRCA-EU 17 79857434 79857434 single base substitution T C exon_variant BRCA-EU 17 79857434 79857434 single base substitution T C intron_variant BRCA-EU 17 79857691 79857691 single base substitution C T downstream_gene_variant BRCA-EU 17 79857691 79857691 single base substitution C T exon_variant BRCA-EU 17 79857691 79857691 single base substitution C T intron_variant BRCA-EU 17 79858176 79858176 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 79858176 79858176 single base substitution C G downstream_gene_variant BRCA-EU 17 79860914 79860914 single base substitution C G downstream_gene_variant BRCA-EU 17 79861846 79861846 single base substitution C G downstream_gene_variant BRCA-FR 17 79844173 79844173 single base substitution T G upstream_gene_variant BRCA-FR 17 79849907 79849907 single base substitution G A 5_prime_UTR_variant BRCA-FR 17 79849907 79849907 single base substitution G A intron_variant BRCA-FR 17 79849907 79849907 single base substitution G A upstream_gene_variant BRCA-FR 17 79851688 79851688 single base substitution G A intron_variant BRCA-FR 17 79851688 79851688 single base substitution G A upstream_gene_variant BRCA-FR 17 79854563 79854563 single base substitution T C downstream_gene_variant BRCA-FR 17 79854563 79854563 single base substitution T C intron_variant BRCA-FR 17 79854563 79854563 single base substitution T C upstream_gene_variant BRCA-FR 17 79856225 79856225 single base substitution G C downstream_gene_variant BRCA-FR 17 79856225 79856225 single base substitution G C exon_variant BRCA-FR 17 79856225 79856225 single base substitution G C intron_variant BRCA-FR 17 79860546 79860546 single base substitution C T downstream_gene_variant BRCA-FR 17 79860914 79860914 single base substitution C G downstream_gene_variant BRCA-US 17 79847099 79847099 insertion of <=200bp - CAT upstream_gene_variant BRCA-US 17 79852414 79852414 single base substitution G C missense_variant E21Q 61G>C BRCA-US 17 79852414 79852414 single base substitution G C upstream_gene_variant BTCA-JP 17 79845850 79845850 single base substitution G A upstream_gene_variant BTCA-JP 17 79846080 79846080 single base substitution T A upstream_gene_variant BTCA-JP 17 79846443 79846443 single base substitution A G upstream_gene_variant BTCA-JP 17 79862958 79862958 single base substitution G A downstream_gene_variant BTCA-JP 17 79863300 79863300 single base substitution C T downstream_gene_variant CESC-US 17 79863284 79863284 single base substitution C T downstream_gene_variant CLLE-ES 17 79854558 79854558 single base substitution A C downstream_gene_variant CLLE-ES 17 79854558 79854558 single base substitution A C intron_variant CLLE-ES 17 79854558 79854558 single base substitution A C upstream_gene_variant COAD-US 17 79847061 79847061 single base substitution C G upstream_gene_variant COAD-US 17 79863270 79863270 single base substitution G A downstream_gene_variant COCA-CN 17 79846215 79846215 single base substitution C T upstream_gene_variant COCA-CN 17 79846216 79846216 single base substitution G C upstream_gene_variant COCA-CN 17 79846254 79846254 single base substitution C A upstream_gene_variant COCA-CN 17 79849485 79849485 single base substitution G T intron_variant COCA-CN 17 79849485 79849485 single base substitution G T upstream_gene_variant COCA-CN 17 79863204 79863204 single base substitution G A downstream_gene_variant COCA-CN 17 79863374 79863374 single base substitution G A downstream_gene_variant COCA-CN 17 79863689 79863689 single base substitution G A downstream_gene_variant ESAD-UK 17 79844036 79844036 single base substitution C T upstream_gene_variant ESAD-UK 17 79844689 79844689 single base substitution C A upstream_gene_variant ESAD-UK 17 79847750 79847750 single base substitution G A upstream_gene_variant ESAD-UK 17 79852044 79852044 single base substitution C T intron_variant ESAD-UK 17 79852044 79852044 single base substitution C T upstream_gene_variant ESAD-UK 17 79852203 79852203 single base substitution C T 5_prime_UTR_variant ESAD-UK 17 79852203 79852203 single base substitution C T intron_variant ESAD-UK 17 79852203 79852203 single base substitution C T upstream_gene_variant ESAD-UK 17 79854778 79854778 single base substitution C T downstream_gene_variant ESAD-UK 17 79854778 79854778 single base substitution C T intron_variant ESAD-UK 17 79854778 79854778 single base substitution C T upstream_gene_variant ESAD-UK 17 79856977 79856977 single base substitution C T downstream_gene_variant ESAD-UK 17 79856977 79856977 single base substitution C T exon_variant ESAD-UK 17 79856977 79856977 single base substitution C T intron_variant ESAD-UK 17 79860607 79860607 single base substitution G A downstream_gene_variant KIRC-US 17 79846140 79846140 single base substitution G A upstream_gene_variant KIRC-US 17 79846407 79846407 single base substitution C A upstream_gene_variant KIRC-US 17 79857246 79857246 single base substitution G A downstream_gene_variant KIRC-US 17 79857246 79857246 single base substitution G A exon_variant KIRC-US 17 79857246 79857246 single base substitution G A intron_variant KIRC-US 17 79857246 79857246 single base substitution G A missense_variant G80R 238G>A LAML-KR 17 79845869 79845869 single base substitution C A upstream_gene_variant LAML-KR 17 79850905 79850905 single base substitution G T intron_variant LAML-KR 17 79850905 79850905 single base substitution G T upstream_gene_variant LICA-FR 17 79850401 79850401 insertion of <=200bp - T intron_variant LICA-FR 17 79850401 79850401 insertion of <=200bp - T upstream_gene_variant LICA-FR 17 79857221 79857221 single base substitution T G downstream_gene_variant LICA-FR 17 79857221 79857221 single base substitution T G exon_variant LICA-FR 17 79857221 79857221 single base substitution T G intron_variant LICA-FR 17 79857221 79857221 single base substitution T G synonymous_variant A71A 213T>G LIHC-US 17 79860624 79860624 single base substitution A G downstream_gene_variant LINC-JP 17 79846492 79846492 single base substitution T C upstream_gene_variant LINC-JP 17 79846915 79846915 single base substitution G T upstream_gene_variant LINC-JP 17 79849486 79849486 single base substitution C T intron_variant LINC-JP 17 79849486 79849486 single base substitution C T upstream_gene_variant LINC-JP 17 79863171 79863171 single base substitution G A downstream_gene_variant LINC-JP 17 79863493 79863493 single base substitution T C downstream_gene_variant LIRI-JP 17 79843908 79843908 single base substitution C A upstream_gene_variant LIRI-JP 17 79844576 79844576 single base substitution C T upstream_gene_variant LIRI-JP 17 79845943 79845943 single base substitution C A upstream_gene_variant LIRI-JP 17 79846923 79846923 single base substitution A T upstream_gene_variant LIRI-JP 17 79847197 79847198 deletion of <=200bp AA - upstream_gene_variant LIRI-JP 17 79847330 79847330 single base substitution T C upstream_gene_variant LIRI-JP 17 79847772 79847772 single base substitution G T upstream_gene_variant LIRI-JP 17 79850106 79850106 single base substitution T C intron_variant LIRI-JP 17 79850106 79850106 single base substitution T C upstream_gene_variant LIRI-JP 17 79851767 79851767 single base substitution G A intron_variant LIRI-JP 17 79851767 79851767 single base substitution G A upstream_gene_variant LIRI-JP 17 79852684 79852684 single base substitution C T 3_prime_UTR_variant LIRI-JP 17 79852684 79852684 single base substitution C T downstream_gene_variant LIRI-JP 17 79852684 79852684 single base substitution C T intron_variant LIRI-JP 17 79852684 79852684 single base substitution C T missense_variant S52F 155C>T LIRI-JP 17 79852684 79852684 single base substitution C T upstream_gene_variant LIRI-JP 17 79861539 79861539 single base substitution G A downstream_gene_variant LIRI-JP 17 79862292 79862292 single base substitution T C downstream_gene_variant LUSC-KR 17 79849484 79849484 single base substitution G T intron_variant LUSC-KR 17 79849484 79849484 single base substitution G T upstream_gene_variant LUSC-KR 17 79849510 79849510 single base substitution G A intron_variant LUSC-KR 17 79849510 79849510 single base substitution G A upstream_gene_variant LUSC-KR 17 79849568 79849568 single base substitution G C 5_prime_UTR_variant LUSC-KR 17 79849568 79849568 single base substitution G C intron_variant LUSC-KR 17 79849568 79849568 single base substitution G C upstream_gene_variant LUSC-KR 17 79852970 79852970 single base substitution G T downstream_gene_variant LUSC-KR 17 79852970 79852970 single base substitution G T intron_variant LUSC-KR 17 79852970 79852970 single base substitution G T upstream_gene_variant LUSC-KR 17 79853398 79853398 single base substitution G A downstream_gene_variant LUSC-KR 17 79853398 79853398 single base substitution G A intron_variant LUSC-KR 17 79853398 79853398 single base substitution G A upstream_gene_variant LUSC-KR 17 79854126 79854126 single base substitution G A downstream_gene_variant LUSC-KR 17 79854126 79854126 single base substitution G A intron_variant LUSC-KR 17 79854126 79854126 single base substitution G A upstream_gene_variant LUSC-KR 17 79854993 79854993 single base substitution C T downstream_gene_variant LUSC-KR 17 79854993 79854993 single base substitution C T intron_variant LUSC-KR 17 79854993 79854993 single base substitution C T upstream_gene_variant LUSC-KR 17 79856676 79856676 single base substitution C T downstream_gene_variant LUSC-KR 17 79856676 79856676 single base substitution C T exon_variant LUSC-KR 17 79856676 79856676 single base substitution C T intron_variant LUSC-KR 17 79858788 79858788 single base substitution C A 3_prime_UTR_variant LUSC-KR 17 79858788 79858788 single base substitution C A downstream_gene_variant LUSC-KR 17 79862827 79862827 single base substitution G T downstream_gene_variant LUSC-US 17 79846200 79846200 single base substitution T C upstream_gene_variant MALY-DE 17 79845250 79845250 single base substitution G C upstream_gene_variant MALY-DE 17 79846775 79846775 single base substitution C T upstream_gene_variant MALY-DE 17 79848673 79848673 single base substitution C T 5_prime_UTR_variant MALY-DE 17 79848673 79848673 single base substitution C T upstream_gene_variant MALY-DE 17 79848674 79848674 single base substitution C T 5_prime_UTR_variant MALY-DE 17 79848674 79848674 single base substitution C T upstream_gene_variant MALY-DE 17 79851983 79851983 single base substitution G C intron_variant MALY-DE 17 79851983 79851983 single base substitution G C upstream_gene_variant MELA-AU 17 79843906 79843906 single base substitution T C upstream_gene_variant MELA-AU 17 79844229 79844229 single base substitution T G upstream_gene_variant MELA-AU 17 79844850 79844850 single base substitution G A upstream_gene_variant MELA-AU 17 79845367 79845367 single base substitution G A upstream_gene_variant MELA-AU 17 79845542 79845542 single base substitution G A upstream_gene_variant MELA-AU 17 79845549 79845549 single base substitution G A upstream_gene_variant MELA-AU 17 79846130 79846130 single base substitution G A upstream_gene_variant MELA-AU 17 79846303 79846303 single base substitution G A upstream_gene_variant MELA-AU 17 79846328 79846328 single base substitution G A upstream_gene_variant MELA-AU 17 79846387 79846387 single base substitution G A upstream_gene_variant MELA-AU 17 79846846 79846846 single base substitution G A upstream_gene_variant MELA-AU 17 79847363 79847363 single base substitution G A upstream_gene_variant MELA-AU 17 79848255 79848256 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 79848326 79848326 single base substitution G A upstream_gene_variant MELA-AU 17 79849512 79849512 single base substitution C T intron_variant MELA-AU 17 79849512 79849512 single base substitution C T upstream_gene_variant MELA-AU 17 79849512 79849513 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79849512 79849513 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 79849513 79849513 single base substitution C T intron_variant MELA-AU 17 79849513 79849513 single base substitution C T upstream_gene_variant MELA-AU 17 79849894 79849894 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 79849894 79849894 single base substitution C T intron_variant MELA-AU 17 79849894 79849894 single base substitution C T upstream_gene_variant MELA-AU 17 79851206 79851206 single base substitution G A intron_variant MELA-AU 17 79851206 79851206 single base substitution G A upstream_gene_variant MELA-AU 17 79852330 79852330 single base substitution C T 5_prime_UTR_variant MELA-AU 17 79852330 79852330 single base substitution C T intron_variant MELA-AU 17 79852330 79852330 single base substitution C T upstream_gene_variant MELA-AU 17 79852331 79852331 single base substitution C T 5_prime_UTR_variant MELA-AU 17 79852331 79852331 single base substitution C T intron_variant MELA-AU 17 79852331 79852331 single base substitution C T upstream_gene_variant MELA-AU 17 79852839 79852840 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 79852839 79852840 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79852839 79852840 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 79853168 79853168 single base substitution C T downstream_gene_variant MELA-AU 17 79853168 79853168 single base substitution C T intron_variant MELA-AU 17 79853168 79853168 single base substitution C T upstream_gene_variant MELA-AU 17 79853775 79853775 single base substitution G A downstream_gene_variant MELA-AU 17 79853775 79853775 single base substitution G A intron_variant MELA-AU 17 79853775 79853775 single base substitution G A upstream_gene_variant MELA-AU 17 79854235 79854235 single base substitution T A downstream_gene_variant MELA-AU 17 79854235 79854235 single base substitution T A intron_variant MELA-AU 17 79854235 79854235 single base substitution T A upstream_gene_variant MELA-AU 17 79855236 79855236 single base substitution C T downstream_gene_variant MELA-AU 17 79855236 79855236 single base substitution C T intron_variant MELA-AU 17 79855236 79855236 single base substitution C T upstream_gene_variant MELA-AU 17 79855293 79855293 single base substitution A T downstream_gene_variant MELA-AU 17 79855293 79855293 single base substitution A T intron_variant MELA-AU 17 79855293 79855293 single base substitution A T upstream_gene_variant MELA-AU 17 79855609 79855609 single base substitution C T downstream_gene_variant MELA-AU 17 79855609 79855609 single base substitution C T intron_variant MELA-AU 17 79855609 79855609 single base substitution C T upstream_gene_variant MELA-AU 17 79856385 79856386 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 79856385 79856386 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 17 79856385 79856386 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79856716 79856716 single base substitution C T downstream_gene_variant MELA-AU 17 79856716 79856716 single base substitution C T exon_variant MELA-AU 17 79856716 79856716 single base substitution C T intron_variant MELA-AU 17 79856805 79856805 single base substitution G A downstream_gene_variant MELA-AU 17 79856805 79856805 single base substitution G A exon_variant MELA-AU 17 79856805 79856805 single base substitution G A intron_variant MELA-AU 17 79857371 79857371 single base substitution T G downstream_gene_variant MELA-AU 17 79857371 79857371 single base substitution T G exon_variant MELA-AU 17 79857371 79857371 single base substitution T G intron_variant MELA-AU 17 79857371 79857371 single base substitution T G synonymous_variant L121L 363T>G MELA-AU 17 79857420 79857420 single base substitution T C downstream_gene_variant MELA-AU 17 79857420 79857420 single base substitution T C exon_variant MELA-AU 17 79857420 79857420 single base substitution T C intron_variant MELA-AU 17 79857420 79857420 single base substitution T C splice_donor_variant MELA-AU 17 79857487 79857487 single base substitution C T downstream_gene_variant MELA-AU 17 79857487 79857487 single base substitution C T exon_variant MELA-AU 17 79857487 79857487 single base substitution C T intron_variant MELA-AU 17 79857629 79857629 single base substitution C T downstream_gene_variant MELA-AU 17 79857629 79857629 single base substitution C T exon_variant MELA-AU 17 79857629 79857629 single base substitution C T intron_variant MELA-AU 17 79859857 79859857 single base substitution G A downstream_gene_variant MELA-AU 17 79860137 79860137 single base substitution A T downstream_gene_variant MELA-AU 17 79860362 79860362 single base substitution C T downstream_gene_variant MELA-AU 17 79860652 79860652 single base substitution G A downstream_gene_variant MELA-AU 17 79861173 79861173 single base substitution C T downstream_gene_variant MELA-AU 17 79861246 79861246 single base substitution G A downstream_gene_variant MELA-AU 17 79861258 79861258 single base substitution G C downstream_gene_variant MELA-AU 17 79861310 79861310 single base substitution C T downstream_gene_variant MELA-AU 17 79862231 79862232 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 79862417 79862417 single base substitution G A downstream_gene_variant MELA-AU 17 79862530 79862530 single base substitution G A downstream_gene_variant MELA-AU 17 79862896 79862896 single base substitution G A downstream_gene_variant MELA-AU 17 79863254 79863254 single base substitution C T downstream_gene_variant MELA-AU 17 79863271 79863271 single base substitution G A downstream_gene_variant MELA-AU 17 79863327 79863327 single base substitution G A downstream_gene_variant MELA-AU 17 79863576 79863576 single base substitution C T downstream_gene_variant MELA-AU 17 79863767 79863767 single base substitution G A downstream_gene_variant MELA-AU 17 79863774 79863774 single base substitution G A downstream_gene_variant ORCA-IN 17 79852414 79852414 single base substitution G C missense_variant E21Q 61G>C ORCA-IN 17 79852414 79852414 single base substitution G C upstream_gene_variant OV-AU 17 79844304 79844304 single base substitution G A upstream_gene_variant OV-AU 17 79844488 79844488 single base substitution A C upstream_gene_variant OV-AU 17 79849485 79849485 single base substitution G A intron_variant OV-AU 17 79849485 79849485 single base substitution G A upstream_gene_variant OV-AU 17 79852903 79852903 single base substitution A C downstream_gene_variant OV-AU 17 79852903 79852903 single base substitution A C intron_variant OV-AU 17 79852903 79852903 single base substitution A C upstream_gene_variant OV-AU 17 79854026 79854026 single base substitution G A downstream_gene_variant OV-AU 17 79854026 79854026 single base substitution G A intron_variant OV-AU 17 79854026 79854026 single base substitution G A upstream_gene_variant OV-AU 17 79859300 79859300 single base substitution C G downstream_gene_variant PACA-AU 17 79844638 79844638 single base substitution A G upstream_gene_variant PACA-AU 17 79845560 79845560 single base substitution A C upstream_gene_variant PACA-AU 17 79849467 79849467 single base substitution C A intron_variant PACA-AU 17 79849467 79849467 single base substitution C A upstream_gene_variant PACA-AU 17 79851891 79851891 single base substitution A T intron_variant PACA-AU 17 79851891 79851891 single base substitution A T upstream_gene_variant PACA-AU 17 79853712 79853712 single base substitution G A downstream_gene_variant PACA-AU 17 79853712 79853712 single base substitution G A intron_variant PACA-AU 17 79853712 79853712 single base substitution G A upstream_gene_variant PACA-AU 17 79858215 79858215 single base substitution T A 3_prime_UTR_variant PACA-AU 17 79858215 79858215 single base substitution T A downstream_gene_variant PACA-AU 17 79861752 79861752 single base substitution G A downstream_gene_variant PACA-CA 17 79844100 79844100 single base substitution G T upstream_gene_variant PACA-CA 17 79845236 79845236 insertion of <=200bp - A upstream_gene_variant PACA-CA 17 79848555 79848555 single base substitution C T upstream_gene_variant PACA-CA 17 79849486 79849486 single base substitution C T intron_variant PACA-CA 17 79849486 79849486 single base substitution C T upstream_gene_variant PACA-CA 17 79849768 79849768 single base substitution G T intron_variant PACA-CA 17 79849768 79849768 single base substitution G T upstream_gene_variant PACA-CA 17 79852339 79852339 single base substitution G A 5_prime_UTR_variant PACA-CA 17 79852339 79852339 single base substitution G A intron_variant PACA-CA 17 79852339 79852339 single base substitution G A splice_region_variant PACA-CA 17 79852339 79852339 single base substitution G A upstream_gene_variant PACA-CA 17 79852773 79852773 single base substitution T C downstream_gene_variant PACA-CA 17 79852773 79852773 single base substitution T C intron_variant PACA-CA 17 79852773 79852773 single base substitution T C upstream_gene_variant PACA-CA 17 79853822 79853822 deletion of <=200bp A - downstream_gene_variant PACA-CA 17 79853822 79853822 deletion of <=200bp A - intron_variant PACA-CA 17 79853822 79853822 deletion of <=200bp A - upstream_gene_variant PACA-CA 17 79859282 79859282 single base substitution T C downstream_gene_variant PACA-CA 17 79859491 79859491 single base substitution G A downstream_gene_variant PACA-CA 17 79862352 79862352 single base substitution G A downstream_gene_variant PBCA-DE 17 79844598 79844598 single base substitution G A upstream_gene_variant PBCA-DE 17 79845869 79845869 single base substitution C A upstream_gene_variant PBCA-DE 17 79853444 79853444 deletion of <=200bp T - downstream_gene_variant PBCA-DE 17 79853444 79853444 deletion of <=200bp T - intron_variant PBCA-DE 17 79853444 79853444 deletion of <=200bp T - upstream_gene_variant PRAD-CA 17 79845850 79845850 single base substitution G A upstream_gene_variant PRAD-CA 17 79861312 79861312 single base substitution G C downstream_gene_variant PRAD-UK 17 79845457 79845457 single base substitution C T upstream_gene_variant PRAD-UK 17 79853998 79853998 single base substitution A G downstream_gene_variant PRAD-UK 17 79853998 79853998 single base substitution A G intron_variant PRAD-UK 17 79853998 79853998 single base substitution A G upstream_gene_variant PRAD-UK 17 79854976 79854976 single base substitution A T downstream_gene_variant PRAD-UK 17 79854976 79854976 single base substitution A T intron_variant PRAD-UK 17 79854976 79854976 single base substitution A T upstream_gene_variant PRAD-UK 17 79861160 79861160 single base substitution G A downstream_gene_variant READ-US 17 79846185 79846185 single base substitution C T upstream_gene_variant READ-US 17 79852410 79852410 single base substitution C T synonymous_variant N19N 57C>T READ-US 17 79852410 79852410 single base substitution C T upstream_gene_variant RECA-EU 17 79845339 79845339 single base substitution T C upstream_gene_variant SKCA-BR 17 79846852 79846852 single base substitution A G upstream_gene_variant SKCA-BR 17 79846877 79846877 single base substitution T G upstream_gene_variant SKCA-BR 17 79847418 79847418 single base substitution G C upstream_gene_variant SKCA-BR 17 79849512 79849512 single base substitution C T intron_variant SKCA-BR 17 79849512 79849512 single base substitution C T upstream_gene_variant SKCA-BR 17 79850764 79850764 single base substitution C T intron_variant SKCA-BR 17 79850764 79850764 single base substitution C T upstream_gene_variant SKCA-BR 17 79853168 79853168 single base substitution C T downstream_gene_variant SKCA-BR 17 79853168 79853168 single base substitution C T intron_variant SKCA-BR 17 79853168 79853168 single base substitution C T upstream_gene_variant SKCA-BR 17 79853780 79853780 single base substitution T G downstream_gene_variant SKCA-BR 17 79853780 79853780 single base substitution T G intron_variant SKCA-BR 17 79853780 79853780 single base substitution T G upstream_gene_variant SKCA-BR 17 79855858 79855858 single base substitution C T downstream_gene_variant SKCA-BR 17 79855858 79855858 single base substitution C T intron_variant SKCA-BR 17 79855858 79855858 single base substitution C T upstream_gene_variant SKCA-BR 17 79857723 79857723 single base substitution C T exon_variant SKCA-BR 17 79857723 79857723 single base substitution C T intron_variant SKCA-BR 17 79857997 79857997 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 79857997 79857997 single base substitution G A downstream_gene_variant SKCA-BR 17 79857997 79857997 single base substitution G A exon_variant SKCA-BR 17 79858720 79858720 single base substitution G T 3_prime_UTR_variant SKCA-BR 17 79858720 79858720 single base substitution G T downstream_gene_variant SKCA-BR 17 79859470 79859470 single base substitution G T downstream_gene_variant SKCA-BR 17 79859584 79859584 single base substitution G C downstream_gene_variant SKCA-BR 17 79860443 79860443 single base substitution G A downstream_gene_variant SKCA-BR 17 79862354 79862354 single base substitution A C downstream_gene_variant SKCA-BR 17 79863625 79863625 single base substitution G A downstream_gene_variant SKCM-US 17 79846180 79846180 single base substitution C T upstream_gene_variant SKCM-US 17 79847154 79847154 single base substitution G A upstream_gene_variant SKCM-US 17 79857225 79857225 single base substitution C T downstream_gene_variant SKCM-US 17 79857225 79857225 single base substitution C T exon_variant SKCM-US 17 79857225 79857225 single base substitution C T intron_variant SKCM-US 17 79857225 79857225 single base substitution C T missense_variant P73S 217C>T SKCM-US 17 79863007 79863007 single base substitution G A downstream_gene_variant STAD-US 17 79846121 79846121 single base substitution G C upstream_gene_variant STAD-US 17 79857828 79857828 single base substitution T C 3_prime_UTR_variant STAD-US 17 79857828 79857828 single base substitution T C downstream_gene_variant STAD-US 17 79857828 79857828 single base substitution T C exon_variant STAD-US 17 79857828 79857828 single base substitution T C missense_variant V148A 443T>C STAD-US 17 79857828 79857828 single base substitution T C missense_variant V80A 239T>C STAD-US 17 79857828 79857828 single base substitution T C missense_variant W48R 142T>C STAD-US 17 79862799 79862799 single base substitution G A downstream_gene_variant THCA-US 17 79857212 79857212 single base substitution C T downstream_gene_variant THCA-US 17 79857212 79857212 single base substitution C T exon_variant THCA-US 17 79857212 79857212 single base substitution C T intron_variant THCA-US 17 79857212 79857212 single base substitution C T synonymous_variant I68I 204C>T UCEC-US 17 79846412 79846412 single base substitution G A upstream_gene_variant UCEC-US 17 79847092 79847092 single base substitution C A upstream_gene_variant UCEC-US 17 79847124 79847124 single base substitution C T upstream_gene_variant UCEC-US 17 79847171 79847171 single base substitution G A upstream_gene_variant UCEC-US 17 79848604 79848604 single base substitution C G upstream_gene_variant UCEC-US 17 79862805 79862805 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BK0021 COSM4186307 c.82A>G p.M28V Substitution - Missense 17:81894559-81894559 + 2293782 COSM4608696 c.493G>T p.A165S Substitution - Missense 17:81900002-81900002 + P117 COSM1736550 c.251C>G p.S84C Substitution - Missense 17:81899383-81899383 + PASLZM COSM5006283 c.31G>A p.V11M Substitution - Missense 17:81894508-81894508 + TCGA-AC-A23H-01 COSM3712598 c.61G>C p.E21Q Substitution - Missense 17:81894538-81894538 + CHC2213T COSM4801176 c.213T>G p.A71A Substitution - coding silent 17:81899345-81899345 + CSCC-31-T COSM4458550 c.108C>T p.D36D Substitution - coding silent 17:81894585-81894585 + DLD1 COSM2805660 c.283A>G p.T95A Substitution - Missense 17:81899415-81899415 + HCT15 COSM2805660 c.283A>G p.T95A Substitution - Missense 17:81899415-81899415 + OSCC-GB_00070111 COSM3712598 c.61G>C p.E21Q Substitution - Missense 17:81894538-81894538 + PT42 COSM5925902 c.335C>T p.P112L Substitution - Missense 17:81899467-81899467 + TCGA-CG-5721-01 COSM4070748 c.443T>C p.V148A Substitution - Missense 17:81899952-81899952 + YUOMEGA COSM5387669 c.122G>A p.G41E Substitution - Missense 17:81899254-81899254 + TCGA-ET-A2MY-01 COSM3370968 c.204C>T p.I68I Substitution - coding silent 17:81899336-81899336 + TCGA-F5-6864-01 COSM3422014 c.57C>T p.N19N Substitution - coding silent 17:81894534-81894534 + 7T COSM3712598 c.61G>C p.E21Q Substitution - Missense 17:81894538-81894538 + Pat_41_B COSM2805655 c.34G>A p.A12T Substitution - Missense 17:81894511-81894511 + CHC2213T COSM4801176 c.213T>G p.A71A Substitution - coding silent 17:81899345-81899345 + HCT8 COSM2805660 c.283A>G p.T95A Substitution - Missense 17:81899415-81899415 + TCGA-B8-4143-01 COSM473547 c.238G>A p.G80R Substitution - Missense 17:81899370-81899370 + 44 COSM5734197 c.235A>G p.T79A Substitution - Missense 17:81899367-81899367 + TCGA-GN-A263-01 COSM3523701 c.217C>T p.P73S Substitution - Missense 17:81899349-81899349 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.534456 17q25.3 614534

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer G A Missense p.G80R c.238G>A 17 79857246 RCCC G T Missense p.R143L c.428G>T 17 79857813 LUAD