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 2 203071986 203071986 + Nonsense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr2:203071986G>C c.296C>G c.(295-297)tCa>tGa p.S99* BLCA 2 203075522 203075522 + Missense_Mutation SNP G G A TCGA-PQ-A6FI-01A-11D-A31L-08 TCGA-PQ-A6FI-10A-01D-A31J-08 g.chr2:203075522G>A c.173C>T c.(172-174)cCa>cTa p.P58L BRCA 2 203079096 203079096 + Nonsense_Mutation SNP G G T TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 g.chr2:203079096G>T c.149C>A c.(148-150)tCa>tAa p.S50* BRCA 2 203084812 203084812 + Silent SNP A A C TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 g.chr2:203084812A>C c.30T>G c.(28-30)acT>acG p.T10T CESC 2 203079157 203079157 + Splice_Site SNP C C G TCGA-BI-A0VS-01A-11D-A10S-08 TCGA-BI-A0VS-10A-01D-A10S-08 g.chr2:203079157C>G c.88G>C c.(88-90)Gat>Cat p.D30H CESC 2 203084816 203084816 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr2:203084816G>C c.26C>G c.(25-27)tCa>tGa p.S9* ESCA 2 203084799 203084799 + Frame_Shift_Del DEL C C - TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 g.chr2:203084799delC c.43delG c.(43-45)gatfs p.D15fs LUAD 2 203072017 203072017 + Missense_Mutation SNP C C G TCGA-MP-A4SY-01A-21D-A24P-08 TCGA-MP-A4SY-10A-01D-A24P-08 g.chr2:203072017C>G c.265G>C c.(265-267)Gaa>Caa p.E89Q LUAD 2 203072040 203072040 + Frame_Shift_Del DEL C C - TCGA-86-8075-01A-11D-2238-08 TCGA-86-8075-10A-01D-2238-08 g.chr2:203072040delC c.242delG c.(241-243)ggafs p.G81fs LUAD 2 203084823 203084823 + Missense_Mutation SNP T T C TCGA-17-Z010-01A-01W-0746-08 TCGA-17-Z010-11A-01W-0746-08 g.chr2:203084823T>C c.19A>G c.(19-21)Aaa>Gaa p.K7E LUSC 2 203084829 203084829 + Splice_Site DEL C C - TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr2:203084829delC c.13delG c.(13-15)gag>ag p.E5fs SKCM 2 203075522 203075522 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr2:203075522G>A c.173C>T c.(172-174)cCa>cTa p.P58L

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 2 203075472 203075472 single base substitution G A 3_prime_UTR_variant BLCA-CN 2 203075472 203075472 single base substitution G A exon_variant BLCA-CN 2 203075472 203075472 single base substitution G A intron_variant BLCA-CN 2 203075472 203075472 single base substitution G A missense_variant H36Y 106C>T BLCA-CN 2 203075472 203075472 single base substitution G A missense_variant H50Y 148C>T BLCA-CN 2 203075472 203075472 single base substitution G A missense_variant H75Y 223C>T BRCA-EU 2 203067468 203067468 single base substitution T C downstream_gene_variant BRCA-EU 2 203069069 203069069 single base substitution G A downstream_gene_variant BRCA-EU 2 203069662 203069662 single base substitution A G downstream_gene_variant BRCA-EU 2 203071104 203071104 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 203071104 203071104 single base substitution G C downstream_gene_variant BRCA-EU 2 203071871 203071871 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 203071871 203071871 single base substitution G C downstream_gene_variant BRCA-EU 2 203071871 203071871 single base substitution G C intron_variant BRCA-EU 2 203072913 203072913 single base substitution A G intron_variant BRCA-EU 2 203074968 203074968 single base substitution G T intron_variant BRCA-EU 2 203075965 203075965 single base substitution C T intron_variant BRCA-EU 2 203076784 203076784 single base substitution G C intron_variant BRCA-EU 2 203077325 203077325 single base substitution A G intron_variant BRCA-EU 2 203077825 203077825 single base substitution G C intron_variant BRCA-EU 2 203078088 203078088 single base substitution G A intron_variant BRCA-EU 2 203078331 203078331 single base substitution A G intron_variant BRCA-EU 2 203078686 203078686 single base substitution G C intron_variant BRCA-EU 2 203079096 203079096 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 203079096 203079096 single base substitution G C exon_variant BRCA-EU 2 203079096 203079096 single base substitution G C stop_gained S11* 32C>G BRCA-EU 2 203079096 203079096 single base substitution G C stop_gained S25* 74C>G BRCA-EU 2 203079096 203079096 single base substitution G C stop_gained S50* 149C>G BRCA-EU 2 203080505 203080505 single base substitution G C intron_variant BRCA-EU 2 203084044 203084044 single base substitution C T intron_variant BRCA-EU 2 203087631 203087631 single base substitution C T intron_variant BRCA-EU 2 203087631 203087631 single base substitution C T upstream_gene_variant BRCA-EU 2 203088260 203088260 single base substitution A G intron_variant BRCA-EU 2 203088260 203088260 single base substitution A G upstream_gene_variant BRCA-EU 2 203088945 203088945 single base substitution G A intron_variant BRCA-EU 2 203088945 203088945 single base substitution G A upstream_gene_variant BRCA-EU 2 203089833 203089833 single base substitution G C intron_variant BRCA-EU 2 203089833 203089833 single base substitution G C upstream_gene_variant BRCA-EU 2 203090498 203090498 single base substitution T A intron_variant BRCA-EU 2 203090498 203090498 single base substitution T A upstream_gene_variant BRCA-EU 2 203092357 203092357 single base substitution G C intron_variant BRCA-EU 2 203094842 203094842 single base substitution A G intron_variant BRCA-EU 2 203096317 203096317 single base substitution C G exon_variant BRCA-EU 2 203096317 203096317 single base substitution C G intron_variant BRCA-EU 2 203097827 203097827 single base substitution G C intron_variant BRCA-EU 2 203098348 203098348 single base substitution G T 5_prime_UTR_variant BRCA-EU 2 203098348 203098348 single base substitution G T intron_variant BRCA-EU 2 203098894 203098894 single base substitution A T intron_variant BRCA-EU 2 203099364 203099364 single base substitution T G intron_variant BRCA-EU 2 203099431 203099431 single base substitution G A intron_variant BRCA-EU 2 203101481 203101481 single base substitution G C intron_variant BRCA-EU 2 203102788 203102788 single base substitution G C intron_variant BRCA-EU 2 203103120 203103120 single base substitution G A intron_variant BRCA-EU 2 203103439 203103439 single base substitution G A upstream_gene_variant BRCA-EU 2 203105030 203105030 deletion of <=200bp C - upstream_gene_variant BRCA-EU 2 203105938 203105938 single base substitution G A upstream_gene_variant BRCA-EU 2 203106364 203106364 single base substitution C G upstream_gene_variant BRCA-EU 2 203106461 203106461 single base substitution C T upstream_gene_variant BRCA-EU 2 203106672 203106672 single base substitution T C upstream_gene_variant BRCA-EU 2 203107752 203107752 deletion of <=200bp T - upstream_gene_variant BRCA-FR 2 203071871 203071871 single base substitution G C 3_prime_UTR_variant BRCA-FR 2 203071871 203071871 single base substitution G C downstream_gene_variant BRCA-FR 2 203071871 203071871 single base substitution G C intron_variant BRCA-FR 2 203074968 203074968 single base substitution G T intron_variant BRCA-FR 2 203077825 203077825 single base substitution G C intron_variant BRCA-FR 2 203078686 203078686 single base substitution G C intron_variant BRCA-FR 2 203102788 203102788 single base substitution G C intron_variant BRCA-UK 2 203072892 203072892 single base substitution G C intron_variant BRCA-UK 2 203076113 203076113 single base substitution C T intron_variant BRCA-UK 2 203078246 203078246 single base substitution G A intron_variant BRCA-UK 2 203097827 203097827 single base substitution G C intron_variant BRCA-UK 2 203104664 203104664 single base substitution G C upstream_gene_variant BRCA-US 2 203079096 203079096 single base substitution G T 3_prime_UTR_variant BRCA-US 2 203079096 203079096 single base substitution G T exon_variant BRCA-US 2 203079096 203079096 single base substitution G T stop_gained S11* 32C>A BRCA-US 2 203079096 203079096 single base substitution G T stop_gained S25* 74C>A BRCA-US 2 203079096 203079096 single base substitution G T stop_gained S50* 149C>A BRCA-US 2 203084812 203084812 single base substitution A C 5_prime_UTR_variant BRCA-US 2 203084812 203084812 single base substitution A C exon_variant BRCA-US 2 203084812 203084812 single base substitution A C intron_variant BRCA-US 2 203084812 203084812 single base substitution A C synonymous_variant T10T 30T>G BRCA-US 2 203096349 203096349 deletion of <=200bp A - exon_variant BRCA-US 2 203096349 203096349 deletion of <=200bp A - intron_variant CESC-US 2 203079157 203079157 single base substitution C G missense_variant D30H 88G>C CESC-US 2 203079157 203079157 single base substitution C G missense_variant D5H 13G>C CESC-US 2 203079157 203079157 single base substitution C G splice_region_variant CESC-US 2 203084816 203084816 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant CESC-US 2 203084816 203084816 single base substitution G C exon_variant CESC-US 2 203084816 203084816 single base substitution G C intron_variant CESC-US 2 203084816 203084816 single base substitution G C stop_gained S9* 26C>G CESC-US 2 203096434 203096434 single base substitution G C exon_variant CESC-US 2 203096434 203096434 single base substitution G C intron_variant CESC-US 2 203104351 203104351 single base substitution G C upstream_gene_variant CLLE-ES 2 203066196 203066196 single base substitution C T downstream_gene_variant CLLE-ES 2 203079462 203079462 single base substitution A C intron_variant CLLE-ES 2 203091260 203091260 single base substitution G C intron_variant CLLE-ES 2 203091260 203091260 single base substitution G C upstream_gene_variant COCA-CN 2 203072157 203072157 single base substitution C A intron_variant COCA-CN 2 203072198 203072198 single base substitution A C intron_variant EOPC-DE 2 203103128 203103128 single base substitution T G intron_variant ESAD-UK 2 203066028 203066028 single base substitution G A downstream_gene_variant ESAD-UK 2 203066249 203066249 single base substitution T C downstream_gene_variant ESAD-UK 2 203071550 203071550 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 203071550 203071550 single base substitution C T downstream_gene_variant ESAD-UK 2 203071550 203071550 single base substitution C T intron_variant ESAD-UK 2 203073108 203073108 single base substitution G A intron_variant ESAD-UK 2 203074009 203074009 single base substitution T G intron_variant ESAD-UK 2 203074010 203074010 single base substitution C A intron_variant ESAD-UK 2 203074626 203074626 single base substitution C T intron_variant ESAD-UK 2 203074928 203074929 deletion of <=200bp AC - intron_variant ESAD-UK 2 203075755 203075755 single base substitution A G intron_variant ESAD-UK 2 203075896 203075896 single base substitution G T intron_variant ESAD-UK 2 203076162 203076162 single base substitution G A intron_variant ESAD-UK 2 203079669 203079669 single base substitution G A intron_variant ESAD-UK 2 203080562 203080562 single base substitution C T intron_variant ESAD-UK 2 203080625 203080625 single base substitution C G intron_variant ESAD-UK 2 203080896 203080896 single base substitution G A intron_variant ESAD-UK 2 203081878 203081878 single base substitution C T intron_variant ESAD-UK 2 203082221 203082221 single base substitution G A intron_variant ESAD-UK 2 203084122 203084122 single base substitution C T intron_variant ESAD-UK 2 203085965 203085965 single base substitution C A intron_variant ESAD-UK 2 203085996 203085996 single base substitution G T intron_variant ESAD-UK 2 203086403 203086403 single base substitution T A intron_variant ESAD-UK 2 203087488 203087488 single base substitution C T intron_variant ESAD-UK 2 203087488 203087488 single base substitution C T upstream_gene_variant ESAD-UK 2 203088202 203088202 single base substitution C A intron_variant ESAD-UK 2 203088202 203088202 single base substitution C A upstream_gene_variant ESAD-UK 2 203090021 203090021 single base substitution T C intron_variant ESAD-UK 2 203090021 203090021 single base substitution T C upstream_gene_variant ESAD-UK 2 203091114 203091114 single base substitution T G intron_variant ESAD-UK 2 203091114 203091114 single base substitution T G upstream_gene_variant ESAD-UK 2 203096766 203096766 single base substitution A T intron_variant ESAD-UK 2 203101703 203101703 single base substitution A C intron_variant ESAD-UK 2 203105384 203105384 single base substitution G A upstream_gene_variant LAML-KR 2 203076311 203076311 single base substitution C T intron_variant LAML-KR 2 203079352 203079352 single base substitution T C intron_variant LAML-KR 2 203087248 203087248 single base substitution G T intron_variant LAML-KR 2 203087248 203087248 single base substitution G T upstream_gene_variant LICA-FR 2 203073735 203073735 deletion of <=200bp A - intron_variant LICA-FR 2 203093231 203093231 single base substitution T G intron_variant LICA-FR 2 203095779 203095779 deletion of <=200bp A - intron_variant LICA-FR 2 203096645 203096645 single base substitution T C intron_variant LICA-FR 2 203108006 203108006 single base substitution A C upstream_gene_variant LINC-JP 2 203075425 203075425 single base substitution T C intron_variant LINC-JP 2 203102355 203102355 insertion of <=200bp - A intron_variant LIRI-JP 2 203077409 203077409 single base substitution T G intron_variant LIRI-JP 2 203079232 203079232 single base substitution T C intron_variant LIRI-JP 2 203079405 203079405 single base substitution T C intron_variant LIRI-JP 2 203080266 203080266 single base substitution T A intron_variant LIRI-JP 2 203080267 203080267 single base substitution C A intron_variant LIRI-JP 2 203083301 203083301 single base substitution G A intron_variant LIRI-JP 2 203084633 203084633 single base substitution T C intron_variant LIRI-JP 2 203087548 203087548 single base substitution C T intron_variant LIRI-JP 2 203087548 203087548 single base substitution C T upstream_gene_variant LIRI-JP 2 203090975 203090975 single base substitution T C intron_variant LIRI-JP 2 203090975 203090975 single base substitution T C upstream_gene_variant LIRI-JP 2 203090986 203090986 single base substitution T C intron_variant LIRI-JP 2 203090986 203090986 single base substitution T C upstream_gene_variant LIRI-JP 2 203093616 203093616 single base substitution T C intron_variant LIRI-JP 2 203093850 203093850 single base substitution C T intron_variant LIRI-JP 2 203093933 203093933 single base substitution G A intron_variant LIRI-JP 2 203094382 203094382 single base substitution T C intron_variant LIRI-JP 2 203095900 203095900 single base substitution C A intron_variant LIRI-JP 2 203097509 203097509 single base substitution T C intron_variant LIRI-JP 2 203103792 203103792 single base substitution T C upstream_gene_variant LIRI-JP 2 203104205 203104205 single base substitution G A upstream_gene_variant LIRI-JP 2 203106542 203106542 single base substitution C G upstream_gene_variant LIRI-JP 2 203108277 203108277 single base substitution G A upstream_gene_variant LUSC-KR 2 203068248 203068248 single base substitution C T downstream_gene_variant LUSC-KR 2 203074002 203074002 single base substitution T C intron_variant LUSC-KR 2 203079263 203079263 single base substitution C T intron_variant LUSC-KR 2 203080053 203080053 single base substitution A C intron_variant LUSC-KR 2 203083110 203083110 single base substitution A C intron_variant LUSC-KR 2 203083500 203083500 single base substitution C A intron_variant LUSC-KR 2 203099375 203099375 single base substitution G T intron_variant LUSC-KR 2 203099383 203099383 single base substitution C A intron_variant LUSC-KR 2 203099573 203099573 single base substitution G T intron_variant LUSC-KR 2 203100618 203100618 single base substitution C T intron_variant LUSC-KR 2 203100954 203100954 single base substitution G C intron_variant LUSC-KR 2 203103048 203103048 single base substitution T C intron_variant LUSC-KR 2 203103403 203103403 single base substitution A C upstream_gene_variant LUSC-KR 2 203103404 203103404 single base substitution G T upstream_gene_variant LUSC-KR 2 203108002 203108002 single base substitution G T upstream_gene_variant LUSC-US 2 203084829 203084829 deletion of <=200bp C - frameshift_variant E5 LUSC-US 2 203084829 203084829 deletion of <=200bp C - intron_variant LUSC-US 2 203084829 203084829 deletion of <=200bp C - splice_region_variant MALY-DE 2 203070723 203070723 single base substitution C T downstream_gene_variant MALY-DE 2 203073670 203073670 single base substitution A T intron_variant MALY-DE 2 203077449 203077449 single base substitution A G intron_variant MALY-DE 2 203094993 203094993 single base substitution G A intron_variant MALY-DE 2 203095949 203095952 deletion of <=200bp AATT - intron_variant MALY-DE 2 203104851 203104851 single base substitution C T upstream_gene_variant MELA-AU 2 203066092 203066092 single base substitution G A downstream_gene_variant MELA-AU 2 203066388 203066388 single base substitution C T downstream_gene_variant MELA-AU 2 203066434 203066434 single base substitution G A downstream_gene_variant MELA-AU 2 203066626 203066626 single base substitution G A downstream_gene_variant MELA-AU 2 203066644 203066644 single base substitution G A downstream_gene_variant MELA-AU 2 203067424 203067424 single base substitution G A downstream_gene_variant MELA-AU 2 203068185 203068185 single base substitution G A downstream_gene_variant MELA-AU 2 203068806 203068806 single base substitution T G downstream_gene_variant MELA-AU 2 203069235 203069235 single base substitution G A downstream_gene_variant MELA-AU 2 203069272 203069272 single base substitution C T downstream_gene_variant MELA-AU 2 203069317 203069317 single base substitution C T downstream_gene_variant MELA-AU 2 203069330 203069330 single base substitution T C downstream_gene_variant MELA-AU 2 203070095 203070095 single base substitution G A downstream_gene_variant MELA-AU 2 203071202 203071202 single base substitution A G 3_prime_UTR_variant MELA-AU 2 203071202 203071202 single base substitution A G downstream_gene_variant MELA-AU 2 203071604 203071604 single base substitution A G 3_prime_UTR_variant MELA-AU 2 203071604 203071604 single base substitution A G downstream_gene_variant MELA-AU 2 203071604 203071604 single base substitution A G intron_variant MELA-AU 2 203071725 203071725 single base substitution G A 3_prime_UTR_variant MELA-AU 2 203071725 203071725 single base substitution G A downstream_gene_variant MELA-AU 2 203071725 203071725 single base substitution G A intron_variant MELA-AU 2 203071759 203071759 single base substitution G A 3_prime_UTR_variant MELA-AU 2 203071759 203071759 single base substitution G A downstream_gene_variant MELA-AU 2 203071759 203071759 single base substitution G A intron_variant MELA-AU 2 203071950 203071950 single base substitution G A 3_prime_UTR_variant MELA-AU 2 203071950 203071950 single base substitution G A downstream_gene_variant MELA-AU 2 203071950 203071950 single base substitution G A intron_variant MELA-AU 2 203072489 203072489 single base substitution G A intron_variant MELA-AU 2 203072769 203072769 single base substitution G T intron_variant MELA-AU 2 203073089 203073089 single base substitution C T intron_variant MELA-AU 2 203073149 203073149 single base substitution G A intron_variant MELA-AU 2 203073798 203073798 single base substitution G A intron_variant MELA-AU 2 203074016 203074016 single base substitution G A intron_variant MELA-AU 2 203074025 203074025 single base substitution G A intron_variant MELA-AU 2 203074390 203074390 single base substitution G A intron_variant MELA-AU 2 203074699 203074699 single base substitution G A intron_variant MELA-AU 2 203075717 203075717 single base substitution C A intron_variant MELA-AU 2 203076013 203076013 single base substitution A G intron_variant MELA-AU 2 203076359 203076359 single base substitution A G intron_variant MELA-AU 2 203076813 203076813 single base substitution G A intron_variant MELA-AU 2 203077092 203077092 single base substitution G A intron_variant MELA-AU 2 203077584 203077584 single base substitution G A intron_variant MELA-AU 2 203077861 203077861 single base substitution G A intron_variant MELA-AU 2 203078170 203078170 single base substitution G A intron_variant MELA-AU 2 203079642 203079642 single base substitution T C intron_variant MELA-AU 2 203080557 203080557 single base substitution G A intron_variant MELA-AU 2 203080786 203080786 single base substitution A T intron_variant MELA-AU 2 203081178 203081178 single base substitution G A intron_variant MELA-AU 2 203081240 203081240 single base substitution G A intron_variant MELA-AU 2 203082770 203082770 single base substitution G A intron_variant MELA-AU 2 203083074 203083074 single base substitution G A intron_variant MELA-AU 2 203083233 203083233 single base substitution G A intron_variant MELA-AU 2 203083287 203083287 single base substitution G A intron_variant MELA-AU 2 203083493 203083493 single base substitution G A intron_variant MELA-AU 2 203083494 203083494 single base substitution G A intron_variant MELA-AU 2 203085038 203085038 single base substitution C T intron_variant MELA-AU 2 203085143 203085143 single base substitution T A intron_variant MELA-AU 2 203086102 203086102 single base substitution G A intron_variant MELA-AU 2 203086719 203086719 single base substitution T C exon_variant MELA-AU 2 203086719 203086719 single base substitution T C intron_variant MELA-AU 2 203087364 203087364 single base substitution G A intron_variant MELA-AU 2 203087364 203087364 single base substitution G A upstream_gene_variant MELA-AU 2 203087421 203087421 single base substitution G A intron_variant MELA-AU 2 203087421 203087421 single base substitution G A upstream_gene_variant MELA-AU 2 203087666 203087666 single base substitution G A intron_variant MELA-AU 2 203087666 203087666 single base substitution G A upstream_gene_variant MELA-AU 2 203087897 203087897 single base substitution G A intron_variant MELA-AU 2 203087897 203087897 single base substitution G A upstream_gene_variant MELA-AU 2 203088172 203088172 single base substitution G A intron_variant MELA-AU 2 203088172 203088172 single base substitution G A upstream_gene_variant MELA-AU 2 203088689 203088689 single base substitution G A intron_variant MELA-AU 2 203088689 203088689 single base substitution G A upstream_gene_variant MELA-AU 2 203088769 203088769 single base substitution G A intron_variant MELA-AU 2 203088769 203088769 single base substitution G A upstream_gene_variant MELA-AU 2 203089522 203089523 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 203089522 203089523 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 203090939 203090939 single base substitution G A intron_variant MELA-AU 2 203090939 203090939 single base substitution G A upstream_gene_variant MELA-AU 2 203091621 203091621 single base substitution A C intron_variant MELA-AU 2 203091621 203091621 single base substitution A C upstream_gene_variant MELA-AU 2 203092285 203092285 single base substitution T C intron_variant MELA-AU 2 203092310 203092310 single base substitution G A intron_variant MELA-AU 2 203092557 203092557 single base substitution G A intron_variant MELA-AU 2 203092637 203092637 single base substitution G A intron_variant MELA-AU 2 203092897 203092897 single base substitution G A intron_variant MELA-AU 2 203093035 203093035 single base substitution G A intron_variant MELA-AU 2 203093417 203093417 single base substitution G A intron_variant MELA-AU 2 203094492 203094492 single base substitution G A intron_variant MELA-AU 2 203095260 203095260 single base substitution G A intron_variant MELA-AU 2 203095400 203095400 single base substitution G A intron_variant MELA-AU 2 203095837 203095837 single base substitution G T intron_variant MELA-AU 2 203095932 203095932 single base substitution G A intron_variant MELA-AU 2 203096496 203096496 single base substitution G A intron_variant MELA-AU 2 203096825 203096826 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 203096881 203096881 single base substitution A T intron_variant MELA-AU 2 203096968 203096968 single base substitution G A intron_variant MELA-AU 2 203097399 203097399 single base substitution G A intron_variant MELA-AU 2 203097551 203097551 single base substitution G A intron_variant MELA-AU 2 203097583 203097583 single base substitution T G intron_variant MELA-AU 2 203098386 203098386 single base substitution C T 5_prime_UTR_variant MELA-AU 2 203098386 203098386 single base substitution C T intron_variant MELA-AU 2 203098390 203098390 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 2 203098390 203098390 single base substitution G A intron_variant MELA-AU 2 203098612 203098612 single base substitution G A intron_variant MELA-AU 2 203098652 203098652 single base substitution G A intron_variant MELA-AU 2 203098687 203098687 single base substitution G A intron_variant MELA-AU 2 203098843 203098843 single base substitution G A intron_variant MELA-AU 2 203099452 203099452 single base substitution G A intron_variant MELA-AU 2 203100034 203100034 single base substitution G A intron_variant MELA-AU 2 203100136 203100136 single base substitution G A intron_variant MELA-AU 2 203100770 203100770 single base substitution A G intron_variant MELA-AU 2 203103342 203103342 single base substitution G A upstream_gene_variant MELA-AU 2 203103360 203103360 single base substitution G A upstream_gene_variant MELA-AU 2 203104730 203104730 single base substitution G A upstream_gene_variant MELA-AU 2 203104828 203104828 single base substitution G A upstream_gene_variant MELA-AU 2 203104981 203104981 single base substitution T C upstream_gene_variant MELA-AU 2 203105115 203105115 single base substitution C T upstream_gene_variant MELA-AU 2 203105443 203105443 single base substitution G A upstream_gene_variant MELA-AU 2 203105620 203105620 single base substitution G A upstream_gene_variant MELA-AU 2 203105698 203105698 single base substitution C T upstream_gene_variant MELA-AU 2 203105730 203105730 single base substitution C T upstream_gene_variant MELA-AU 2 203105775 203105775 single base substitution C T upstream_gene_variant MELA-AU 2 203105806 203105806 single base substitution G A upstream_gene_variant MELA-AU 2 203106181 203106181 single base substitution G A upstream_gene_variant MELA-AU 2 203106299 203106299 single base substitution G A upstream_gene_variant MELA-AU 2 203106412 203106412 single base substitution C T upstream_gene_variant MELA-AU 2 203106427 203106427 single base substitution C T upstream_gene_variant MELA-AU 2 203106617 203106617 single base substitution C T upstream_gene_variant MELA-AU 2 203106632 203106632 single base substitution G A upstream_gene_variant MELA-AU 2 203107003 203107003 single base substitution C T upstream_gene_variant MELA-AU 2 203107114 203107114 single base substitution G T upstream_gene_variant MELA-AU 2 203107136 203107136 single base substitution C T upstream_gene_variant MELA-AU 2 203107188 203107188 single base substitution C T upstream_gene_variant MELA-AU 2 203107438 203107438 single base substitution C T upstream_gene_variant MELA-AU 2 203107565 203107565 single base substitution C T upstream_gene_variant MELA-AU 2 203107639 203107639 single base substitution C T upstream_gene_variant MELA-AU 2 203107943 203107943 single base substitution T G upstream_gene_variant MELA-AU 2 203107962 203107962 single base substitution C T upstream_gene_variant MELA-AU 2 203108041 203108041 single base substitution C T upstream_gene_variant ORCA-IN 2 203088763 203088763 single base substitution G T intron_variant ORCA-IN 2 203088763 203088763 single base substitution G T upstream_gene_variant ORCA-IN 2 203092939 203092939 single base substitution G A intron_variant ORCA-IN 2 203106987 203106987 single base substitution C T upstream_gene_variant OV-AU 2 203070552 203070552 single base substitution G C downstream_gene_variant OV-AU 2 203083643 203083643 single base substitution G A intron_variant OV-AU 2 203084011 203084011 single base substitution T G intron_variant OV-AU 2 203085061 203085061 single base substitution A T intron_variant OV-AU 2 203088620 203088620 single base substitution T C intron_variant OV-AU 2 203088620 203088620 single base substitution T C upstream_gene_variant OV-AU 2 203089158 203089158 single base substitution T C intron_variant OV-AU 2 203089158 203089158 single base substitution T C upstream_gene_variant OV-AU 2 203094326 203094326 single base substitution C A intron_variant OV-AU 2 203095667 203095667 single base substitution C A intron_variant OV-AU 2 203096265 203096280 deletion of <=200bp CTTGAACCTGGGAGGC - intron_variant OV-AU 2 203096265 203096280 deletion of <=200bp CTTGAACCTGGGAGGC - splice_donor_variant OV-AU 2 203096405 203096405 single base substitution A G exon_variant OV-AU 2 203096405 203096405 single base substitution A G intron_variant OV-AU 2 203098926 203098926 single base substitution A T intron_variant OV-AU 2 203099566 203099566 single base substitution G A intron_variant PACA-AU 2 203066142 203066142 single base substitution G A downstream_gene_variant PACA-AU 2 203067920 203067920 single base substitution A T downstream_gene_variant PACA-AU 2 203075351 203075351 single base substitution T C intron_variant PACA-AU 2 203079860 203079860 single base substitution A T intron_variant PACA-AU 2 203080998 203080998 single base substitution T C intron_variant PACA-AU 2 203085081 203085081 single base substitution C T intron_variant PACA-AU 2 203087365 203087365 single base substitution G C intron_variant PACA-AU 2 203087365 203087365 single base substitution G C upstream_gene_variant PACA-AU 2 203095228 203095236 deletion of <=200bp CGTATCTTT - intron_variant PACA-AU 2 203098894 203098894 single base substitution A T intron_variant PACA-AU 2 203100625 203100625 single base substitution C T intron_variant PACA-AU 2 203105050 203105050 single base substitution G C upstream_gene_variant PACA-AU 2 203105827 203105827 single base substitution T A upstream_gene_variant PACA-CA 2 203066261 203066261 single base substitution C G downstream_gene_variant PACA-CA 2 203077943 203077943 single base substitution A T intron_variant PACA-CA 2 203079788 203079788 single base substitution T C intron_variant PACA-CA 2 203084258 203084258 single base substitution C T intron_variant PACA-CA 2 203088754 203088754 single base substitution G A intron_variant PACA-CA 2 203088754 203088754 single base substitution G A upstream_gene_variant PACA-CA 2 203088869 203088869 single base substitution C T intron_variant PACA-CA 2 203088869 203088869 single base substitution C T upstream_gene_variant PACA-CA 2 203095858 203095858 single base substitution C T intron_variant PACA-CA 2 203097759 203097759 single base substitution C T intron_variant PACA-CA 2 203099829 203099829 single base substitution G A intron_variant PACA-CA 2 203100415 203100415 single base substitution G A intron_variant PACA-CA 2 203101018 203101027 deletion of <=200bp CCAACAAACC - intron_variant PACA-CA 2 203101029 203101029 deletion of <=200bp G - intron_variant PACA-CA 2 203101033 203101041 deletion of <=200bp TATGTTAAC - intron_variant PACA-CA 2 203101048 203101056 deletion of <=200bp ATATTTTTA - intron_variant PACA-CA 2 203101268 203101268 single base substitution T A intron_variant PACA-CA 2 203102213 203102213 single base substitution A C intron_variant PAEN-AU 2 203075815 203075815 single base substitution C T intron_variant PAEN-AU 2 203104783 203104783 single base substitution T G upstream_gene_variant PAEN-IT 2 203098658 203098658 single base substitution C T intron_variant PBCA-DE 2 203071298 203071298 single base substitution C A 3_prime_UTR_variant PBCA-DE 2 203071298 203071298 single base substitution C A downstream_gene_variant PBCA-DE 2 203082058 203082058 insertion of <=200bp - G intron_variant PBCA-DE 2 203095943 203095943 deletion of <=200bp A - intron_variant PBCA-DE 2 203098888 203098888 insertion of <=200bp - A intron_variant PBCA-DE 2 203105896 203105896 single base substitution A T upstream_gene_variant PRAD-CA 2 203069041 203069041 single base substitution C A downstream_gene_variant PRAD-CA 2 203088214 203088214 single base substitution A G intron_variant PRAD-CA 2 203088214 203088214 single base substitution A G upstream_gene_variant PRAD-CA 2 203089472 203089472 single base substitution T G intron_variant PRAD-CA 2 203089472 203089472 single base substitution T G upstream_gene_variant PRAD-CA 2 203094674 203094674 single base substitution T G intron_variant PRAD-UK 2 203067585 203067585 single base substitution G A downstream_gene_variant PRAD-UK 2 203079436 203079436 single base substitution A G intron_variant PRAD-UK 2 203086941 203086941 single base substitution A G intron_variant PRAD-UK 2 203086941 203086941 single base substitution A G upstream_gene_variant PRAD-UK 2 203093867 203093867 single base substitution G A intron_variant PRAD-UK 2 203103269 203103269 single base substitution A G 5_prime_UTR_variant PRAD-UK 2 203103269 203103269 single base substitution A G upstream_gene_variant RECA-EU 2 203074260 203074260 single base substitution G T intron_variant RECA-EU 2 203087451 203087451 single base substitution G A intron_variant RECA-EU 2 203087451 203087451 single base substitution G A upstream_gene_variant RECA-EU 2 203087618 203087618 single base substitution C A intron_variant RECA-EU 2 203087618 203087618 single base substitution C A upstream_gene_variant RECA-EU 2 203099198 203099198 single base substitution A G intron_variant SKCA-BR 2 203071543 203071543 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 203071543 203071543 single base substitution G A downstream_gene_variant SKCA-BR 2 203071543 203071543 single base substitution G A intron_variant SKCA-BR 2 203076543 203076543 single base substitution T A intron_variant SKCA-BR 2 203076987 203076988 deletion of <=200bp CT - intron_variant SKCA-BR 2 203076987 203076989 deletion of <=200bp CTT - intron_variant SKCA-BR 2 203077604 203077604 single base substitution G A intron_variant SKCA-BR 2 203079645 203079645 single base substitution T C intron_variant SKCA-BR 2 203080423 203080423 single base substitution G A intron_variant SKCA-BR 2 203085631 203085631 single base substitution A C intron_variant SKCA-BR 2 203085701 203085701 insertion of <=200bp - CA intron_variant SKCA-BR 2 203086324 203086324 single base substitution G A intron_variant SKCA-BR 2 203087232 203087232 insertion of <=200bp - CT intron_variant SKCA-BR 2 203087232 203087232 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 2 203089549 203089549 single base substitution A G intron_variant SKCA-BR 2 203089549 203089549 single base substitution A G upstream_gene_variant SKCA-BR 2 203092637 203092637 single base substitution G A intron_variant SKCA-BR 2 203092983 203093003 deletion of <=200bp AAATTTAAATTAAAAATAAAG - intron_variant SKCA-BR 2 203097469 203097469 insertion of <=200bp - CA intron_variant SKCA-BR 2 203099230 203099230 single base substitution G A intron_variant SKCA-BR 2 203100643 203100643 single base substitution C T intron_variant SKCA-BR 2 203104644 203104644 single base substitution C T upstream_gene_variant SKCA-BR 2 203104645 203104645 single base substitution C T upstream_gene_variant SKCM-US 2 203075522 203075522 single base substitution G A 3_prime_UTR_variant SKCM-US 2 203075522 203075522 single base substitution G A exon_variant SKCM-US 2 203075522 203075522 single base substitution G A intron_variant SKCM-US 2 203075522 203075522 single base substitution G A missense_variant P19L 56C>T SKCM-US 2 203075522 203075522 single base substitution G A missense_variant P33L 98C>T SKCM-US 2 203075522 203075522 single base substitution G A missense_variant P58L 173C>T UCEC-US 2 203075460 203075460 single base substitution C A intron_variant UCEC-US 2 203075460 203075460 single base substitution C A splice_region_variant UCEC-US 2 203075460 203075460 single base substitution C A stop_gained E40* 118G>T UCEC-US 2 203075460 203075460 single base substitution C A stop_gained E54* 160G>T UCEC-US 2 203075460 203075460 single base substitution C A stop_gained E79* 235G>T UCEC-US 2 203096448 203096448 single base substitution A C exon_variant UCEC-US 2 203096448 203096448 single base substitution A C intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 2521252 COSM5888707 c.23C>T p.P8L Substitution - Missense 2:202220096-202220096 - TCGA-D3-A3C7-06 COSM3576399 c.173C>T p.P58L Substitution - Missense 2:202210799-202210799 - B80-8-Tumor COSM1752266 c.223C>T p.H75Y Substitution - Missense 2:202210749-202210749 - CHEWS029 COSM4583094 c.60A>C p.E20D Substitution - Missense 2:202220059-202220059 - TCGA-BI-A0VS-01 COSM1134536 c.88G>C p.D30H Substitution - Missense 2:202214434-202214434 - B80-8 COSM1752266 c.223C>T p.H75Y Substitution - Missense 2:202210749-202210749 - PT37 COSM5917805 c.166G>A p.G56S Substitution - Missense 2:202210806-202210806 - TCGA-E2-A14W-01 COSM1482660 c.30T>G p.T10T Substitution - coding silent 2:202220089-202220089 - SNUH_G37_S1 COSM3682505 c.245T>G p.M82R Substitution - Missense 2:202207314-202207314 - TCGA-DR-A0ZM-01 COSM1134537 c.48G>C p.K16N Substitution - Missense 2:202220071-202220071 - pfg222T COSM4764403 c.296C>A p.S99* Substitution - Nonsense 2:202207263-202207263 - PT37 COSM5917804 c.167G>A p.G56D Substitution - Missense 2:202210805-202210805 - TCGA-IR-A3LH-01 COSM4833179 c.26C>G p.S9* Substitution - Nonsense 2:202220093-202220093 - PD23563a COSM5774227 c.149C>G p.S50* Substitution - Nonsense 2:202214373-202214373 - TCGA-AX-A0J0-01 COSM1591707 c.235G>T p.E79* Substitution - Nonsense 2:202210737-202210737 - LUAD-LIP77 COSM342426 c.265G>A p.E89K Substitution - Missense 2:202207294-202207294 - TCGA-D8-A1J9-01 COSM1482659 c.149C>A p.S50* Substitution - Nonsense 2:202214373-202214373 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.81424 2q33 601912 2425383|dbSNP|BC006462|A/C|non-coding||785|Candidate; 2425383|dbSNP|BC053528|A/C|non-coding||759|Candidate; 2425383|dbSNP|BC066306|A/C|non-coding||777|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.T10T c.30T>G 2 203084812 BRCA C - Frameshift p.E5Rfs*34 c.13delG 2 203084829 LUSC G A 3-UTRSNV . c.303+29C>T 2 203071950 CM G A 5-UTRSNV . c.1-47C>T 2 203103221 ESCA G A Missense p.P58L c.173C>T 2 203075522 CM G T Nonsense p.S50* c.149C>A 2 203079096 BRCA T C Missense p.K7E c.19A>G 2 203084823 LUAD