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 ESCA 6 149721559 149721559 + Intron SNP A A T TCGA-LN-A4MQ-01A-11D-A28B-09 TCGA-LN-A4MQ-10A-01D-A28E-09 g.chr6:149721559A>T SKCM 6 149721676 149721676 + Intron SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr6:149721676C>T

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 6 149717485 149717485 single base substitution C G upstream_gene_variant BRCA-EU 6 149721635 149721635 single base substitution G A synonymous_variant R36R 108G>A BRCA-EU 6 149722075 149722075 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 6 149723401 149723401 single base substitution G A downstream_gene_variant BRCA-EU 6 149724884 149724884 single base substitution G T downstream_gene_variant BRCA-EU 6 149725579 149725579 single base substitution A G downstream_gene_variant BRCA-UK 6 149721635 149721635 single base substitution G A synonymous_variant R36R 108G>A BRCA-US 6 149719091 149719091 single base substitution G T upstream_gene_variant CESC-US 6 149719189 149719189 single base substitution C G upstream_gene_variant COAD-US 6 149718856 149718856 single base substitution C T upstream_gene_variant COAD-US 6 149722043 149722043 deletion of <=200bp T - 3_prime_UTR_variant COCA-CN 6 149721154 149721154 single base substitution G A upstream_gene_variant ESAD-UK 6 149718310 149718310 single base substitution G T upstream_gene_variant ESAD-UK 6 149719490 149719490 single base substitution T G upstream_gene_variant ESAD-UK 6 149719904 149719904 single base substitution G A upstream_gene_variant ESAD-UK 6 149721819 149721819 single base substitution G T 3_prime_UTR_variant ESAD-UK 6 149723001 149723001 single base substitution A G downstream_gene_variant ESAD-UK 6 149725225 149725225 single base substitution C A downstream_gene_variant ESAD-UK 6 149725236 149725236 single base substitution G A downstream_gene_variant LAML-KR 6 149725073 149725073 single base substitution A G downstream_gene_variant LICA-FR 6 149720296 149720296 single base substitution G A upstream_gene_variant LICA-FR 6 149724439 149724439 single base substitution T C downstream_gene_variant LINC-JP 6 149716842 149716842 deletion of <=200bp T - upstream_gene_variant LINC-JP 6 149719088 149719088 single base substitution A G upstream_gene_variant LINC-JP 6 149720204 149720204 single base substitution A G upstream_gene_variant LINC-JP 6 149721483 149721483 single base substitution C T upstream_gene_variant LINC-JP 6 149721635 149721635 single base substitution G A synonymous_variant R36R 108G>A LIRI-JP 6 149718738 149718738 single base substitution A G upstream_gene_variant LIRI-JP 6 149719545 149719545 single base substitution A C upstream_gene_variant LIRI-JP 6 149721793 149721793 single base substitution A T missense_variant Q89L 266A>T LIRI-JP 6 149721990 149721990 deletion of <=200bp A - 3_prime_UTR_variant LIRI-JP 6 149722768 149722768 single base substitution A G downstream_gene_variant LIRI-JP 6 149723396 149723396 single base substitution A G downstream_gene_variant LIRI-JP 6 149725636 149725636 single base substitution A G downstream_gene_variant LIRI-JP 6 149726403 149726403 single base substitution A G downstream_gene_variant LUSC-KR 6 149721632 149721632 single base substitution G C missense_variant K35N 105G>C MALY-DE 6 149716618 149716618 single base substitution C G upstream_gene_variant MELA-AU 6 149716730 149716730 single base substitution A G upstream_gene_variant MELA-AU 6 149716893 149716893 single base substitution C T upstream_gene_variant MELA-AU 6 149717056 149717056 single base substitution C T upstream_gene_variant MELA-AU 6 149717146 149717146 single base substitution C T upstream_gene_variant MELA-AU 6 149717148 149717148 single base substitution C A upstream_gene_variant MELA-AU 6 149717157 149717157 single base substitution C T upstream_gene_variant MELA-AU 6 149717246 149717246 single base substitution C T upstream_gene_variant MELA-AU 6 149717302 149717302 single base substitution C T upstream_gene_variant MELA-AU 6 149717631 149717631 single base substitution C T upstream_gene_variant MELA-AU 6 149718081 149718081 single base substitution C T upstream_gene_variant MELA-AU 6 149718484 149718484 single base substitution G A upstream_gene_variant MELA-AU 6 149720384 149720384 single base substitution C T upstream_gene_variant MELA-AU 6 149720505 149720505 single base substitution T C upstream_gene_variant MELA-AU 6 149720668 149720668 single base substitution C T upstream_gene_variant MELA-AU 6 149721415 149721415 single base substitution C T upstream_gene_variant MELA-AU 6 149723728 149723728 single base substitution C T downstream_gene_variant MELA-AU 6 149724008 149724008 single base substitution A C downstream_gene_variant MELA-AU 6 149724680 149724680 single base substitution C T downstream_gene_variant MELA-AU 6 149724946 149724946 single base substitution C T downstream_gene_variant MELA-AU 6 149725325 149725325 deletion of <=200bp A - downstream_gene_variant MELA-AU 6 149725656 149725656 single base substitution C T downstream_gene_variant MELA-AU 6 149726495 149726495 single base substitution T C downstream_gene_variant MELA-AU 6 149726547 149726547 single base substitution C T downstream_gene_variant MELA-AU 6 149726846 149726847 deletion of <=200bp AG - downstream_gene_variant PACA-AU 6 149717807 149717807 deletion of <=200bp T - upstream_gene_variant PACA-AU 6 149720184 149720184 single base substitution A G upstream_gene_variant PACA-AU 6 149721744 149721744 single base substitution C A missense_variant P73T 217C>A PACA-AU 6 149722160 149722160 single base substitution T C 3_prime_UTR_variant PACA-AU 6 149724451 149724451 single base substitution C T downstream_gene_variant PACA-CA 6 149721537 149721537 single base substitution G C missense_variant E4Q 10G>C PACA-CA 6 149722429 149722429 single base substitution G A downstream_gene_variant PACA-CA 6 149724795 149724795 single base substitution A G downstream_gene_variant PBCA-DE 6 149719400 149719400 single base substitution G A upstream_gene_variant PBCA-DE 6 149722334 149722334 deletion of <=200bp A - downstream_gene_variant PBCA-DE 6 149723651 149723651 single base substitution C A downstream_gene_variant PBCA-DE 6 149725809 149725809 single base substitution A C downstream_gene_variant PRAD-CA 6 149719280 149719280 single base substitution A T upstream_gene_variant PRAD-CA 6 149724433 149724433 single base substitution T C downstream_gene_variant PRAD-CA 6 149724467 149724467 single base substitution C T downstream_gene_variant RECA-EU 6 149721768 149721768 single base substitution G A missense_variant E81K 241G>A SKCA-BR 6 149720384 149720384 single base substitution C T upstream_gene_variant SKCA-BR 6 149724384 149724397 deletion of <=200bp ATATATATATATAT - downstream_gene_variant SKCA-BR 6 149724409 149724409 single base substitution T C downstream_gene_variant SKCA-BR 6 149724427 149724449 deletion of <=200bp CACACATATATATATATATATAT - downstream_gene_variant SKCA-BR 6 149724473 149724483 deletion of <=200bp TATACACACAC - downstream_gene_variant SKCM-US 6 149720247 149720247 single base substitution T C upstream_gene_variant SKCM-US 6 149720314 149720314 single base substitution C T upstream_gene_variant SKCM-US 6 149721676 149721676 single base substitution C T missense_variant P50L 149C>T STAD-US 6 149719193 149719193 single base substitution C T upstream_gene_variant STAD-US 6 149721537 149721537 single base substitution G A missense_variant E4K 10G>A STAD-US 6 149721599 149721599 single base substitution A G synonymous_variant G24G 72A>G STAD-US 6 149721679 149721679 single base substitution G A missense_variant R51Q 152G>A STAD-US 6 149721793 149721793 single base substitution A C missense_variant Q89P 266A>C THCA-SA 6 149721554 149721554 single base substitution A C missense_variant E9D 27A>C UCEC-US 6 149718860 149718860 single base substitution G T upstream_gene_variant UCEC-US 6 149719131 149719131 single base substitution T G upstream_gene_variant UCEC-US 6 149719195 149719195 single base substitution C T upstream_gene_variant UCEC-US 6 149721744 149721744 single base substitution C T missense_variant P73S 217C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 6 COSM4333507 c.132G>A p.M44I Substitution - Missense 6:149400523-149400523 + TCGA-BR-4362-01 COSM3858975 c.10G>A p.E4K Substitution - Missense 6:149400401-149400401 + PD3890a COSM219173 c.108G>A p.R36R Substitution - coding silent 6:149400499-149400499 + PCSI_0086_Pa_P COSM3381456 c.10G>C p.E4Q Substitution - Missense 6:149400401-149400401 + PD3890a COSM219173 c.108G>A p.R36R Substitution - coding silent 6:149400499-149400499 + 8044868 COSM1158032 c.217C>A p.P73T Substitution - Missense 6:149400608-149400608 + TCGA-HU-A4GQ-01 COSM3858977 c.152G>A p.R51Q Substitution - Missense 6:149400543-149400543 + T2258 COSM4730872 c.42C>T p.N14N Substitution - coding silent 6:149400433-149400433 + TCGA-BR-8680-01 COSM3858976 c.72A>G p.G24G Substitution - coding silent 6:149400463-149400463 + TCGA-CD-8525-01 COSM3858978 c.266A>C p.Q89P Substitution - Missense 6:149400657-149400657 + SNUH_G10_S1 COSM4003728 c.163G>T p.V55L Substitution - Missense 6:149400554-149400554 + TCGA-AX-A0J0-01 COSM1074404 c.217C>T p.P73S Substitution - Missense 6:149400608-149400608 + PACA116 COSM1158032 c.217C>A p.P73T Substitution - Missense 6:149400608-149400608 + MPCC_0037_Pa_C COSM3381456 c.10G>C p.E4Q Substitution - Missense 6:149400401-149400401 + HCC174 COSM219173 c.108G>A p.R36R Substitution - coding silent 6:149400499-149400499 + ESO-141 COSM1267028 c.3G>A p.M1I Substitution - Missense 6:149400394-149400394 + TCGA-RP-A693-06 COSM4895387 c.149C>T p.P50L Substitution - Missense 6:149400540-149400540 + HCC174T COSM219173 c.108G>A p.R36R Substitution - coding silent 6:149400499-149400499 + C0097T COSM4155997 c.241G>A p.E81K Substitution - Missense 6:149400632-149400632 + RK337_C01 COSM4943441 c.266A>T p.Q89L Substitution - Missense 6:149400657-149400657 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.657164;Hs.657165;Hs.657166;Hs.657168 6q25 608829

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer G A Missense p.M1I c.3G>A 6 149721530 ESCA