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 1 51702486 51702486 + Missense_Mutation SNP C C G TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr1:51702486C>G c.58C>G c.(58-60)Cag>Gag p.Q20E BLCA 1 51736896 51736896 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr1:51736896C>T c.367C>T c.(367-369)Ctg>Ttg p.L123L COAD 1 51735722 51735722 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:51735722G>T c.218G>T c.(217-219)aGa>aTa p.R73I COADREAD 1 51735722 51735722 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:51735722G>T c.218G>T c.(217-219)aGa>aTa p.R73I ESCA 1 51735793 51735793 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 g.chr1:51735793C>T c.289C>T c.(289-291)Cgg>Tgg p.R97W HNSC 1 51735628 51735628 + Splice_Site SNP G G C TCGA-CV-7242-01A-11D-2012-08 TCGA-CV-7242-10A-01D-2013-08 g.chr1:51735628G>C c.124G>C c.(124-126)Gaa>Caa p.E42Q LIHC 1 51702468 51702468 + Missense_Mutation SNP T T A TCGA-DD-A4NH-01A-11D-A27I-10 TCGA-DD-A4NH-10A-01D-A27I-10 g.chr1:51702468T>A c.40T>A c.(40-42)Tcc>Acc p.S14T LIHC 1 51736890 51736890 + Missense_Mutation SNP T T C TCGA-KR-A7K8-01A-11D-A33K-10 TCGA-KR-A7K8-10A-01D-A33K-10 g.chr1:51736890T>C c.361T>C c.(361-363)Tat>Cat p.Y121H LUAD 1 51735789 51735789 + Missense_Mutation SNP G G T TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr1:51735789G>T c.285G>T c.(283-285)aaG>aaT p.K95N PAAD 1 51736946 51736946 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:51736946C>T c.417C>T c.(415-417)tgC>tgT p.C139C

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 1 51735648 51735648 single base substitution C G exon_variant BLCA-CN 1 51735648 51735648 single base substitution C G intron_variant BLCA-CN 1 51735648 51735648 single base substitution C G synonymous_variant V48V 144C>G BLCA-US 1 51702486 51702486 single base substitution C G exon_variant BLCA-US 1 51702486 51702486 single base substitution C G missense_variant Q20E 58C>G BLCA-US 1 51736896 51736896 single base substitution C T exon_variant BLCA-US 1 51736896 51736896 single base substitution C T synonymous_variant L123L 367C>T BRCA-EU 1 51696965 51696965 single base substitution G C upstream_gene_variant BRCA-EU 1 51698002 51698002 single base substitution C A upstream_gene_variant BRCA-EU 1 51698290 51698290 single base substitution T A upstream_gene_variant BRCA-EU 1 51698686 51698686 single base substitution C G upstream_gene_variant BRCA-EU 1 51698713 51698713 single base substitution G A upstream_gene_variant BRCA-EU 1 51699003 51699003 single base substitution C T upstream_gene_variant BRCA-EU 1 51699935 51699935 single base substitution C A upstream_gene_variant BRCA-EU 1 51700659 51700659 single base substitution G T upstream_gene_variant BRCA-EU 1 51700978 51700978 single base substitution G A upstream_gene_variant BRCA-EU 1 51701623 51701623 single base substitution T A upstream_gene_variant BRCA-EU 1 51701992 51701992 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 51701992 51701992 single base substitution G A upstream_gene_variant BRCA-EU 1 51702294 51702294 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 51702294 51702294 single base substitution G A exon_variant BRCA-EU 1 51702885 51702885 single base substitution C T intron_variant BRCA-EU 1 51703299 51703299 single base substitution C G intron_variant BRCA-EU 1 51703659 51703659 single base substitution A G intron_variant BRCA-EU 1 51704091 51704091 single base substitution C T intron_variant BRCA-EU 1 51704241 51704241 single base substitution C T intron_variant BRCA-EU 1 51704468 51704468 single base substitution C G intron_variant BRCA-EU 1 51704805 51704824 deletion of <=200bp CTCCTGGCCTCAAGCAAATT - intron_variant BRCA-EU 1 51705659 51705659 single base substitution C T intron_variant BRCA-EU 1 51705725 51705725 single base substitution C T intron_variant BRCA-EU 1 51706414 51706414 deletion of <=200bp T - intron_variant BRCA-EU 1 51706605 51706605 single base substitution C T intron_variant BRCA-EU 1 51707425 51707425 single base substitution G A intron_variant BRCA-EU 1 51712558 51712568 deletion of <=200bp GAGGGTTACCT - intron_variant BRCA-EU 1 51714120 51714120 single base substitution C T intron_variant BRCA-EU 1 51714428 51714428 single base substitution G C intron_variant BRCA-EU 1 51715167 51715167 single base substitution A T intron_variant BRCA-EU 1 51715299 51715299 single base substitution G A intron_variant BRCA-EU 1 51716262 51716262 single base substitution T C intron_variant BRCA-EU 1 51716602 51716602 single base substitution C A intron_variant BRCA-EU 1 51718373 51718373 single base substitution C A intron_variant BRCA-EU 1 51718424 51718424 single base substitution C G intron_variant BRCA-EU 1 51721884 51721884 single base substitution G A intron_variant BRCA-EU 1 51721907 51721907 single base substitution C G intron_variant BRCA-EU 1 51722334 51722336 deletion of <=200bp TTG - intron_variant BRCA-EU 1 51722801 51722801 single base substitution C T intron_variant BRCA-EU 1 51723026 51723026 single base substitution T A intron_variant BRCA-EU 1 51723737 51723737 single base substitution G C intron_variant BRCA-EU 1 51724612 51724612 single base substitution C A intron_variant BRCA-EU 1 51727070 51727070 single base substitution T C intron_variant BRCA-EU 1 51727406 51727406 single base substitution C A intron_variant BRCA-EU 1 51730079 51730079 single base substitution C T intron_variant BRCA-EU 1 51730329 51730329 single base substitution C T intron_variant BRCA-EU 1 51731606 51731606 single base substitution C A intron_variant BRCA-EU 1 51731606 51731606 single base substitution C A upstream_gene_variant BRCA-EU 1 51732680 51732680 single base substitution G A intron_variant BRCA-EU 1 51732680 51732680 single base substitution G A upstream_gene_variant BRCA-EU 1 51733711 51733711 single base substitution T C intron_variant BRCA-EU 1 51733711 51733711 single base substitution T C upstream_gene_variant BRCA-EU 1 51733767 51733767 single base substitution T C intron_variant BRCA-EU 1 51733767 51733767 single base substitution T C upstream_gene_variant BRCA-EU 1 51733925 51733925 single base substitution A C intron_variant BRCA-EU 1 51733925 51733925 single base substitution A C upstream_gene_variant BRCA-EU 1 51735138 51735138 single base substitution A C intron_variant BRCA-EU 1 51735138 51735138 single base substitution A C upstream_gene_variant BRCA-EU 1 51735850 51735850 single base substitution G A intron_variant BRCA-EU 1 51737160 51737160 single base substitution A T 3_prime_UTR_variant BRCA-EU 1 51737160 51737160 single base substitution A T exon_variant BRCA-EU 1 51737850 51737850 single base substitution A T 3_prime_UTR_variant BRCA-EU 1 51737850 51737850 single base substitution A T downstream_gene_variant BRCA-EU 1 51738275 51738275 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 51738275 51738275 single base substitution G C downstream_gene_variant BRCA-EU 1 51739985 51739985 single base substitution G A downstream_gene_variant BRCA-EU 1 51739995 51739995 single base substitution C T downstream_gene_variant BRCA-EU 1 51741769 51741769 single base substitution A C downstream_gene_variant BRCA-EU 1 51742368 51742368 single base substitution G C downstream_gene_variant BRCA-EU 1 51742642 51742642 single base substitution C T downstream_gene_variant BRCA-EU 1 51742897 51742897 single base substitution A G downstream_gene_variant BRCA-EU 1 51743207 51743207 single base substitution C T downstream_gene_variant BRCA-EU 1 51743773 51743773 single base substitution G C downstream_gene_variant BRCA-EU 1 51743839 51743839 single base substitution C T downstream_gene_variant BRCA-EU 1 51743884 51743884 single base substitution C T downstream_gene_variant BRCA-FR 1 51698290 51698290 single base substitution T A upstream_gene_variant BRCA-FR 1 51698713 51698713 single base substitution G A upstream_gene_variant BRCA-FR 1 51701992 51701992 single base substitution G A 5_prime_UTR_variant BRCA-FR 1 51701992 51701992 single base substitution G A upstream_gene_variant BRCA-FR 1 51703659 51703659 single base substitution A G intron_variant BRCA-FR 1 51705659 51705659 single base substitution C T intron_variant BRCA-FR 1 51706605 51706605 single base substitution C T intron_variant BRCA-FR 1 51721907 51721907 single base substitution C G intron_variant BRCA-FR 1 51733925 51733925 single base substitution A C intron_variant BRCA-FR 1 51733925 51733925 single base substitution A C upstream_gene_variant BRCA-FR 1 51734610 51734610 single base substitution G C intron_variant BRCA-FR 1 51734610 51734610 single base substitution G C upstream_gene_variant BRCA-FR 1 51738012 51738012 single base substitution A G 3_prime_UTR_variant BRCA-FR 1 51738012 51738012 single base substitution A G downstream_gene_variant BRCA-FR 1 51739204 51739204 single base substitution C G downstream_gene_variant BRCA-FR 1 51743207 51743207 single base substitution C T downstream_gene_variant BRCA-UK 1 51724612 51724612 single base substitution C A intron_variant BRCA-UK 1 51732603 51732603 single base substitution G A intron_variant BRCA-UK 1 51732603 51732603 single base substitution G A upstream_gene_variant CESC-US 1 51737136 51737136 single base substitution G A 3_prime_UTR_variant CESC-US 1 51737136 51737136 single base substitution G A exon_variant CLLE-ES 1 51699520 51699520 single base substitution G C upstream_gene_variant CLLE-ES 1 51708326 51708326 single base substitution T C intron_variant CLLE-ES 1 51726492 51726492 single base substitution T C intron_variant CLLE-ES 1 51740246 51740246 single base substitution C T downstream_gene_variant COCA-CN 1 51702602 51702602 single base substitution G T intron_variant EOPC-DE 1 51730735 51730735 single base substitution A G intron_variant EOPC-DE 1 51730735 51730735 single base substitution A G upstream_gene_variant ESAD-UK 1 51698284 51698284 deletion of <=200bp T - upstream_gene_variant ESAD-UK 1 51699263 51699263 single base substitution G C upstream_gene_variant ESAD-UK 1 51700576 51700576 single base substitution C G upstream_gene_variant ESAD-UK 1 51704615 51704615 single base substitution T A intron_variant ESAD-UK 1 51705410 51705410 deletion of <=200bp A - intron_variant ESAD-UK 1 51705878 51705878 single base substitution C T intron_variant ESAD-UK 1 51706123 51706123 single base substitution T C intron_variant ESAD-UK 1 51710079 51710079 single base substitution C T intron_variant ESAD-UK 1 51711976 51711976 single base substitution A T intron_variant ESAD-UK 1 51712156 51712156 single base substitution T C intron_variant ESAD-UK 1 51717157 51717157 single base substitution C T intron_variant ESAD-UK 1 51721567 51721567 single base substitution G A intron_variant ESAD-UK 1 51721899 51721899 single base substitution C T intron_variant ESAD-UK 1 51722306 51722306 single base substitution T C intron_variant ESAD-UK 1 51722376 51722376 single base substitution C T intron_variant ESAD-UK 1 51723311 51723311 single base substitution G A intron_variant ESAD-UK 1 51725518 51725518 single base substitution C T intron_variant ESAD-UK 1 51727554 51727554 single base substitution C T intron_variant ESAD-UK 1 51727652 51727652 single base substitution G A intron_variant ESAD-UK 1 51730137 51730137 single base substitution A T intron_variant ESAD-UK 1 51733006 51733006 single base substitution C T intron_variant ESAD-UK 1 51733006 51733006 single base substitution C T upstream_gene_variant ESAD-UK 1 51733408 51733408 insertion of <=200bp - T intron_variant ESAD-UK 1 51733408 51733408 insertion of <=200bp - T upstream_gene_variant ESAD-UK 1 51736768 51736768 single base substitution C A intron_variant ESAD-UK 1 51737010 51737010 single base substitution C G 3_prime_UTR_variant ESAD-UK 1 51737010 51737010 single base substitution C G exon_variant ESAD-UK 1 51737783 51737783 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 51737783 51737783 single base substitution G A downstream_gene_variant ESAD-UK 1 51738978 51738978 single base substitution A C 3_prime_UTR_variant ESAD-UK 1 51738978 51738978 single base substitution A C downstream_gene_variant ESAD-UK 1 51739208 51739208 single base substitution C A downstream_gene_variant ESAD-UK 1 51740729 51740729 single base substitution G A downstream_gene_variant LICA-FR 1 51702473 51702473 single base substitution G T exon_variant LICA-FR 1 51702473 51702473 single base substitution G T synonymous_variant L15L 45G>T LICA-FR 1 51712652 51712652 insertion of <=200bp - A intron_variant LICA-FR 1 51718478 51718478 insertion of <=200bp - TGTG intron_variant LICA-FR 1 51742196 51742196 single base substitution G C downstream_gene_variant LIHC-US 1 51702468 51702468 single base substitution T A exon_variant LIHC-US 1 51702468 51702468 single base substitution T A missense_variant S14T 40T>A LIHC-US 1 51736890 51736890 single base substitution T C exon_variant LIHC-US 1 51736890 51736890 single base substitution T C missense_variant Y121H 361T>C LINC-JP 1 51697360 51697360 single base substitution T C upstream_gene_variant LINC-JP 1 51699551 51699551 single base substitution G A upstream_gene_variant LINC-JP 1 51703264 51703264 single base substitution G T intron_variant LINC-JP 1 51712053 51712053 single base substitution C T intron_variant LINC-JP 1 51718509 51718509 single base substitution T G intron_variant LINC-JP 1 51725347 51725347 single base substitution A T intron_variant LINC-JP 1 51726329 51726329 single base substitution G T intron_variant LINC-JP 1 51728387 51728387 single base substitution C T intron_variant LINC-JP 1 51730341 51730341 single base substitution C A intron_variant LINC-JP 1 51736938 51736938 single base substitution C T exon_variant LINC-JP 1 51736938 51736938 single base substitution C T missense_variant P137S 409C>T LINC-JP 1 51737017 51737017 single base substitution C G 3_prime_UTR_variant LINC-JP 1 51737017 51737017 single base substitution C G exon_variant LINC-JP 1 51742613 51742613 single base substitution C G downstream_gene_variant LIRI-JP 1 51697561 51697561 single base substitution T C upstream_gene_variant LIRI-JP 1 51702889 51702889 single base substitution G A intron_variant LIRI-JP 1 51703990 51703990 single base substitution T G intron_variant LIRI-JP 1 51708953 51708953 single base substitution G A intron_variant LIRI-JP 1 51709604 51709604 single base substitution C T intron_variant LIRI-JP 1 51710413 51710413 single base substitution A C intron_variant LIRI-JP 1 51713748 51713748 single base substitution T C intron_variant LIRI-JP 1 51715393 51715393 single base substitution T C intron_variant LIRI-JP 1 51715652 51715652 single base substitution A G intron_variant LIRI-JP 1 51715864 51715864 single base substitution T C intron_variant LIRI-JP 1 51721431 51721431 single base substitution T G intron_variant LIRI-JP 1 51721847 51721847 single base substitution T G intron_variant LIRI-JP 1 51722285 51722285 single base substitution T C intron_variant LIRI-JP 1 51723808 51723808 single base substitution G T intron_variant LIRI-JP 1 51726241 51726241 single base substitution T G intron_variant LIRI-JP 1 51729077 51729077 single base substitution A G intron_variant LIRI-JP 1 51732724 51732724 single base substitution C T intron_variant LIRI-JP 1 51732724 51732724 single base substitution C T upstream_gene_variant LIRI-JP 1 51733205 51733205 single base substitution A G intron_variant LIRI-JP 1 51733205 51733205 single base substitution A G upstream_gene_variant LIRI-JP 1 51734474 51734474 single base substitution A T intron_variant LIRI-JP 1 51734474 51734474 single base substitution A T upstream_gene_variant LIRI-JP 1 51736522 51736522 single base substitution A G intron_variant LIRI-JP 1 51739643 51739643 single base substitution A G downstream_gene_variant LIRI-JP 1 51741910 51741910 single base substitution C T downstream_gene_variant LIRI-JP 1 51742539 51742539 single base substitution A G downstream_gene_variant LIRI-JP 1 51742578 51742578 single base substitution A G downstream_gene_variant LIRI-JP 1 51743975 51743975 single base substitution A G downstream_gene_variant LUSC-KR 1 51703269 51703269 single base substitution C G intron_variant LUSC-KR 1 51706579 51706579 single base substitution C T intron_variant LUSC-KR 1 51708566 51708566 single base substitution C A intron_variant LUSC-KR 1 51709179 51709179 single base substitution C G intron_variant LUSC-KR 1 51719448 51719448 single base substitution G A intron_variant LUSC-KR 1 51719889 51719889 single base substitution T A intron_variant LUSC-KR 1 51722431 51722431 single base substitution C G intron_variant LUSC-KR 1 51728884 51728884 single base substitution A G intron_variant LUSC-KR 1 51730951 51730951 single base substitution G A intron_variant LUSC-KR 1 51730951 51730951 single base substitution G A upstream_gene_variant LUSC-KR 1 51738925 51738925 single base substitution A G 3_prime_UTR_variant LUSC-KR 1 51738925 51738925 single base substitution A G downstream_gene_variant LUSC-KR 1 51740114 51740114 single base substitution G T downstream_gene_variant MALY-DE 1 51706220 51706220 deletion of <=200bp T - intron_variant MALY-DE 1 51716318 51716360 deletion of <=200bp GGCGTGGGCCTTGATGAGGTGGTCAGTGAATTCCTGATCGGGA - intron_variant MALY-DE 1 51720326 51720326 single base substitution G A intron_variant MALY-DE 1 51731511 51731511 single base substitution T C intron_variant MALY-DE 1 51731511 51731511 single base substitution T C upstream_gene_variant MALY-DE 1 51735508 51735508 single base substitution A T intron_variant MALY-DE 1 51735508 51735508 single base substitution A T upstream_gene_variant MALY-DE 1 51737579 51737579 single base substitution A C 3_prime_UTR_variant MALY-DE 1 51737579 51737579 single base substitution A C downstream_gene_variant MALY-DE 1 51739208 51739208 single base substitution C A downstream_gene_variant MALY-DE 1 51742003 51742003 single base substitution G A downstream_gene_variant MELA-AU 1 51697066 51697066 single base substitution G A upstream_gene_variant MELA-AU 1 51697438 51697438 single base substitution G A upstream_gene_variant MELA-AU 1 51697995 51697995 single base substitution C T upstream_gene_variant MELA-AU 1 51698010 51698011 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 51698282 51698282 single base substitution C T upstream_gene_variant MELA-AU 1 51698442 51698442 single base substitution C T upstream_gene_variant MELA-AU 1 51699621 51699621 single base substitution C T upstream_gene_variant MELA-AU 1 51699759 51699759 single base substitution T C upstream_gene_variant MELA-AU 1 51700105 51700105 single base substitution C T upstream_gene_variant MELA-AU 1 51700195 51700195 single base substitution C T upstream_gene_variant MELA-AU 1 51700220 51700220 single base substitution G A upstream_gene_variant MELA-AU 1 51700440 51700440 single base substitution G A upstream_gene_variant MELA-AU 1 51701003 51701003 single base substitution G A upstream_gene_variant MELA-AU 1 51701026 51701026 single base substitution C T upstream_gene_variant MELA-AU 1 51701900 51701900 single base substitution C T upstream_gene_variant MELA-AU 1 51702364 51702364 single base substitution G A 5_prime_UTR_variant MELA-AU 1 51702364 51702364 single base substitution G A exon_variant MELA-AU 1 51702571 51702571 insertion of <=200bp - G intron_variant MELA-AU 1 51703524 51703524 single base substitution G A intron_variant MELA-AU 1 51703903 51703903 single base substitution C T intron_variant MELA-AU 1 51706125 51706125 single base substitution C T intron_variant MELA-AU 1 51706136 51706136 single base substitution C T intron_variant MELA-AU 1 51707153 51707153 single base substitution C T intron_variant MELA-AU 1 51707781 51707781 single base substitution C T intron_variant MELA-AU 1 51707794 51707794 single base substitution T C intron_variant MELA-AU 1 51707937 51707937 single base substitution A G intron_variant MELA-AU 1 51708318 51708318 single base substitution T A intron_variant MELA-AU 1 51708793 51708793 single base substitution T C intron_variant MELA-AU 1 51708936 51708936 single base substitution G A intron_variant MELA-AU 1 51709666 51709666 single base substitution G A intron_variant MELA-AU 1 51709944 51709944 single base substitution T A intron_variant MELA-AU 1 51710287 51710287 single base substitution C T intron_variant MELA-AU 1 51711278 51711278 single base substitution C T intron_variant MELA-AU 1 51711688 51711688 single base substitution A G intron_variant MELA-AU 1 51712348 51712348 single base substitution G A intron_variant MELA-AU 1 51712434 51712434 single base substitution G A intron_variant MELA-AU 1 51713359 51713359 single base substitution T C intron_variant MELA-AU 1 51713730 51713730 single base substitution T C intron_variant MELA-AU 1 51716551 51716552 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 51716602 51716602 single base substitution C T intron_variant MELA-AU 1 51716702 51716702 single base substitution G A intron_variant MELA-AU 1 51717092 51717092 single base substitution C T intron_variant MELA-AU 1 51717529 51717529 single base substitution T C intron_variant MELA-AU 1 51717566 51717566 single base substitution C T intron_variant MELA-AU 1 51717926 51717926 single base substitution C T intron_variant MELA-AU 1 51717947 51717947 single base substitution C T intron_variant MELA-AU 1 51718965 51718965 single base substitution G A intron_variant MELA-AU 1 51719577 51719578 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 51720029 51720029 single base substitution C T intron_variant MELA-AU 1 51722706 51722706 single base substitution C T intron_variant MELA-AU 1 51723611 51723611 single base substitution C T intron_variant MELA-AU 1 51723645 51723646 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 51723942 51723942 single base substitution A G intron_variant MELA-AU 1 51724535 51724535 single base substitution C T intron_variant MELA-AU 1 51724853 51724853 insertion of <=200bp - C intron_variant MELA-AU 1 51727686 51727686 single base substitution C T intron_variant MELA-AU 1 51728007 51728007 single base substitution C T intron_variant MELA-AU 1 51728686 51728686 single base substitution C T intron_variant MELA-AU 1 51730708 51730709 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 51730708 51730709 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 51731179 51731179 single base substitution T G intron_variant MELA-AU 1 51731179 51731179 single base substitution T G upstream_gene_variant MELA-AU 1 51731562 51731562 single base substitution G C intron_variant MELA-AU 1 51731562 51731562 single base substitution G C upstream_gene_variant MELA-AU 1 51732177 51732177 single base substitution C T intron_variant MELA-AU 1 51732177 51732177 single base substitution C T upstream_gene_variant MELA-AU 1 51732259 51732259 single base substitution G A intron_variant MELA-AU 1 51732259 51732259 single base substitution G A upstream_gene_variant MELA-AU 1 51732263 51732263 single base substitution T A intron_variant MELA-AU 1 51732263 51732263 single base substitution T A upstream_gene_variant MELA-AU 1 51732360 51732360 single base substitution C T intron_variant MELA-AU 1 51732360 51732360 single base substitution C T upstream_gene_variant MELA-AU 1 51732386 51732386 single base substitution T G intron_variant MELA-AU 1 51732386 51732386 single base substitution T G upstream_gene_variant MELA-AU 1 51732389 51732389 single base substitution C T intron_variant MELA-AU 1 51732389 51732389 single base substitution C T upstream_gene_variant MELA-AU 1 51732674 51732674 single base substitution C T intron_variant MELA-AU 1 51732674 51732674 single base substitution C T upstream_gene_variant MELA-AU 1 51732887 51732887 single base substitution C T intron_variant MELA-AU 1 51732887 51732887 single base substitution C T upstream_gene_variant MELA-AU 1 51733495 51733495 single base substitution C T intron_variant MELA-AU 1 51733495 51733495 single base substitution C T upstream_gene_variant MELA-AU 1 51733528 51733528 single base substitution G A intron_variant MELA-AU 1 51733528 51733528 single base substitution G A upstream_gene_variant MELA-AU 1 51733530 51733530 single base substitution G A intron_variant MELA-AU 1 51733530 51733530 single base substitution G A upstream_gene_variant MELA-AU 1 51734124 51734124 single base substitution C T intron_variant MELA-AU 1 51734124 51734124 single base substitution C T upstream_gene_variant MELA-AU 1 51734825 51734825 single base substitution C T intron_variant MELA-AU 1 51734825 51734825 single base substitution C T upstream_gene_variant MELA-AU 1 51735548 51735548 single base substitution C T intron_variant MELA-AU 1 51735548 51735548 single base substitution C T upstream_gene_variant MELA-AU 1 51736127 51736127 single base substitution A G intron_variant MELA-AU 1 51736349 51736349 single base substitution T A intron_variant MELA-AU 1 51739158 51739158 single base substitution C T downstream_gene_variant MELA-AU 1 51739389 51739389 single base substitution C T downstream_gene_variant MELA-AU 1 51739541 51739541 single base substitution C T downstream_gene_variant MELA-AU 1 51739800 51739800 single base substitution C T downstream_gene_variant MELA-AU 1 51739919 51739919 single base substitution T G downstream_gene_variant MELA-AU 1 51740005 51740005 single base substitution C T downstream_gene_variant MELA-AU 1 51740049 51740049 single base substitution C T downstream_gene_variant MELA-AU 1 51740158 51740158 single base substitution C T downstream_gene_variant MELA-AU 1 51740591 51740591 single base substitution C T downstream_gene_variant MELA-AU 1 51741496 51741496 single base substitution G A downstream_gene_variant MELA-AU 1 51741601 51741601 single base substitution C T downstream_gene_variant MELA-AU 1 51742021 51742021 single base substitution G A downstream_gene_variant MELA-AU 1 51742398 51742398 single base substitution G A downstream_gene_variant MELA-AU 1 51742792 51742792 single base substitution C T downstream_gene_variant MELA-AU 1 51743394 51743394 single base substitution T C downstream_gene_variant ORCA-IN 1 51721982 51721982 single base substitution C T intron_variant ORCA-IN 1 51732397 51732397 single base substitution A G intron_variant ORCA-IN 1 51732397 51732397 single base substitution A G upstream_gene_variant OV-AU 1 51698097 51698097 single base substitution A G upstream_gene_variant OV-AU 1 51712489 51712489 single base substitution G T intron_variant OV-AU 1 51713611 51713611 single base substitution G C intron_variant OV-AU 1 51721298 51721298 single base substitution T C intron_variant OV-AU 1 51722722 51722722 single base substitution T A intron_variant OV-AU 1 51733584 51733584 single base substitution G A intron_variant OV-AU 1 51733584 51733584 single base substitution G A upstream_gene_variant OV-AU 1 51743868 51743868 single base substitution C A downstream_gene_variant PACA-AU 1 51698283 51698283 single base substitution G A upstream_gene_variant PACA-AU 1 51705634 51705634 single base substitution C T intron_variant PACA-AU 1 51714471 51714471 single base substitution G C intron_variant PACA-AU 1 51714581 51714581 single base substitution A G intron_variant PACA-AU 1 51716309 51716309 single base substitution G A intron_variant PACA-AU 1 51717206 51717206 insertion of <=200bp - T intron_variant PACA-AU 1 51722997 51722997 single base substitution C T intron_variant PACA-AU 1 51737695 51737695 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 1 51737695 51737695 deletion of <=200bp A - downstream_gene_variant PACA-CA 1 51700305 51700305 single base substitution C T upstream_gene_variant PACA-CA 1 51700718 51700718 single base substitution C T upstream_gene_variant PACA-CA 1 51701417 51701417 single base substitution C G upstream_gene_variant PACA-CA 1 51703110 51703110 single base substitution A G intron_variant PACA-CA 1 51703226 51703226 single base substitution C A intron_variant PACA-CA 1 51704025 51704025 single base substitution C G intron_variant PACA-CA 1 51704987 51704987 single base substitution C T intron_variant PACA-CA 1 51706123 51706123 insertion of <=200bp - C intron_variant PACA-CA 1 51706337 51706337 single base substitution A T intron_variant PACA-CA 1 51706368 51706368 single base substitution T C intron_variant PACA-CA 1 51715540 51715540 single base substitution G A intron_variant PACA-CA 1 51718287 51718287 insertion of <=200bp - A intron_variant PACA-CA 1 51722466 51722466 single base substitution C T intron_variant PACA-CA 1 51723847 51723847 single base substitution C A intron_variant PACA-CA 1 51731763 51731763 single base substitution G C intron_variant PACA-CA 1 51731763 51731763 single base substitution G C upstream_gene_variant PACA-CA 1 51737306 51737306 single base substitution T C 3_prime_UTR_variant PACA-CA 1 51737306 51737306 single base substitution T C downstream_gene_variant PACA-CA 1 51738530 51738530 single base substitution C A 3_prime_UTR_variant PACA-CA 1 51738530 51738530 single base substitution C A downstream_gene_variant PAEN-AU 1 51699949 51699949 single base substitution T C upstream_gene_variant PAEN-AU 1 51720101 51720101 single base substitution T G intron_variant PAEN-AU 1 51725333 51725333 single base substitution T C intron_variant PBCA-DE 1 51698247 51698247 insertion of <=200bp - A upstream_gene_variant PBCA-DE 1 51716318 51716360 deletion of <=200bp GGCGTGGGCCTTGATGAGGTGGTCAGTGAATTCCTGATCGGGA - intron_variant PBCA-DE 1 51718478 51718479 deletion of <=200bp TG - intron_variant PBCA-DE 1 51720026 51720026 single base substitution C A intron_variant PBCA-DE 1 51729124 51729125 deletion of <=200bp TG - intron_variant PRAD-CA 1 51706638 51706638 single base substitution G A intron_variant PRAD-CA 1 51729991 51729991 single base substitution C T intron_variant PRAD-UK 1 51701701 51701701 single base substitution G C upstream_gene_variant PRAD-UK 1 51706435 51706435 insertion of <=200bp - T intron_variant PRAD-UK 1 51706942 51706942 single base substitution T A intron_variant PRAD-UK 1 51709220 51709220 single base substitution C T intron_variant PRAD-UK 1 51717031 51717031 single base substitution T A intron_variant PRAD-UK 1 51719912 51719912 single base substitution C A intron_variant PRAD-UK 1 51725782 51725782 single base substitution G T intron_variant PRAD-UK 1 51727943 51727943 single base substitution A C intron_variant PRAD-UK 1 51729259 51729259 single base substitution T C intron_variant PRAD-UK 1 51742531 51742531 single base substitution C T downstream_gene_variant RECA-EU 1 51725321 51725321 single base substitution T A intron_variant RECA-EU 1 51726849 51726849 single base substitution A C intron_variant RECA-EU 1 51728111 51728111 single base substitution A T intron_variant SKCA-BR 1 51700045 51700045 single base substitution C T upstream_gene_variant SKCA-BR 1 51701920 51701920 single base substitution C T upstream_gene_variant SKCA-BR 1 51702170 51702170 single base substitution G C 5_prime_UTR_variant SKCA-BR 1 51702170 51702170 single base substitution G C exon_variant SKCA-BR 1 51703094 51703094 insertion of <=200bp - GTA intron_variant SKCA-BR 1 51703114 51703114 insertion of <=200bp - GTA intron_variant SKCA-BR 1 51706149 51706149 single base substitution C T intron_variant SKCA-BR 1 51714071 51714071 single base substitution T G intron_variant SKCA-BR 1 51715240 51715240 single base substitution G A intron_variant SKCA-BR 1 51717825 51717825 single base substitution C T intron_variant SKCA-BR 1 51719217 51719217 single base substitution T G intron_variant SKCA-BR 1 51726362 51726362 single base substitution T C intron_variant SKCA-BR 1 51727736 51727736 single base substitution A G intron_variant SKCA-BR 1 51729987 51729991 deletion of <=200bp TATAC - intron_variant SKCA-BR 1 51730995 51730995 single base substitution C T intron_variant SKCA-BR 1 51730995 51730995 single base substitution C T upstream_gene_variant SKCA-BR 1 51734907 51734907 single base substitution C T intron_variant SKCA-BR 1 51734907 51734907 single base substitution C T upstream_gene_variant SKCA-BR 1 51743084 51743086 deletion of <=200bp TTC - downstream_gene_variant SKCA-BR 1 51743650 51743650 insertion of <=200bp - CT downstream_gene_variant STAD-US 1 51736936 51736936 single base substitution G A exon_variant STAD-US 1 51736936 51736936 single base substitution G A missense_variant C136Y 407G>A UCEC-US 1 51735673 51735673 single base substitution C T exon_variant UCEC-US 1 51735673 51735673 single base substitution C T intron_variant UCEC-US 1 51735673 51735673 single base substitution C T missense_variant R57W 169C>T UCEC-US 1 51735722 51735722 single base substitution G T exon_variant UCEC-US 1 51735722 51735722 single base substitution G T intron_variant UCEC-US 1 51735722 51735722 single base substitution G T missense_variant R73I 218G>T UCEC-US 1 51735742 51735742 single base substitution C A exon_variant UCEC-US 1 51735742 51735742 single base substitution C A intron_variant UCEC-US 1 51735742 51735742 single base substitution C A missense_variant L80M 238C>A UCEC-US 1 51736866 51736866 single base substitution C T exon_variant UCEC-US 1 51736866 51736866 single base substitution C T stop_gained R113* 337C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-31-T COSM4567192 c.4_5GG>AA p.G2K Substitution - Missense 1:51236760-51236761 + TCGA-BS-A0UV-01 COSM284612 c.218G>T p.R73I Substitution - Missense 1:51270050-51270050 + TCGA-BR-4201-01 COSM4008713 c.407G>A p.C136Y Substitution - Missense 1:51271264-51271264 + CSCC-27-T COSM4495239 c.449C>T p.S150F Substitution - Missense 1:51271306-51271306 + Gp2D COSM2192306 c.166A>G p.T56A Substitution - Missense 1:51269998-51269998 + TCGA-DD-A4NH-01 COSM4940951 c.40T>A p.S14T Substitution - Missense 1:51236796-51236796 + CHC1714T COSM4952476 c.45G>T p.L15L Substitution - coding silent 1:51236801-51236801 + TCGA-AA-A010-01 COSM284612 c.218G>T p.R73I Substitution - Missense 1:51270050-51270050 + T3064 COSM4721923 c.278delA p.K95fs*6 Deletion - Frameshift 1:51270110-51270110 + HCC2998 COSM1667544 c.338G>A p.R113Q Substitution - Missense 1:51271195-51271195 + TCGA-AP-A059-01 COSM910519 c.238C>A p.L80M Substitution - Missense 1:51270070-51270070 + CHC1714T COSM4952476 c.45G>T p.L15L Substitution - coding silent 1:51236801-51236801 + TCGA-AP-A059-01 COSM910518 c.169C>T p.R57W Substitution - Missense 1:51270001-51270001 + B80-13-Tumor COSM1748493 c.144C>G p.V48V Substitution - coding silent 1:51269976-51269976 + TCGA-DK-A3IS-01 COSM1296548 c.367C>T p.L123L Substitution - coding silent 1:51271224-51271224 + TCGA-GV-A3QI-01 COSM1296547 c.58C>G p.Q20E Substitution - Missense 1:51236814-51236814 + NPC2F COSM4995467 c.78T>A p.F26L Substitution - Missense 1:51236834-51236834 + CSCC-19-T COSM4464735 c.134C>T p.P45L Substitution - Missense 1:51269966-51269966 + H441 COSM1193557 c.416G>A p.C139Y Substitution - Missense 1:51271273-51271273 + CSCC-55-T COSM4545862 c.387G>A p.W129* Substitution - Nonsense 1:51271244-51271244 + TCGA-KR-A7K8-01 COSM4918264 c.361T>C p.Y121H Substitution - Missense 1:51271218-51271218 + B80-13 COSM1748493 c.144C>G p.V48V Substitution - coding silent 1:51269976-51269976 + TCGA-G4-6304-01 COSM5175428 c.346C>T p.P116S Substitution - Missense 1:51271203-51271203 + Gp5D COSM2192306 c.166A>G p.T56A Substitution - Missense 1:51269998-51269998 + HCC90 COSM1602522 c.409C>T p.P137S Substitution - Missense 1:51271266-51271266 + HCC90T COSM1602522 c.409C>T p.P137S Substitution - Missense 1:51271266-51271266 + TCGA-BS-A0UF-01 COSM910520 c.337C>T p.R113* Substitution - Nonsense 1:51271194-51271194 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.309493;Hs.309539;Hs.309641 1p32 612598

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C G Missense p.Q20E c.58C>G 1 51702486 BLCA C T Synonymous p.L123L c.367C>T 1 51736896 BLCA G A Missense p.C136Y c.407G>A 1 51736936 STAD G C Missense p.E42Q c.124G>C 1 51735628 HNSC T C IntronicSNV . c.123+5775T>C 1 51708326 CLL