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 5 133724024 133724024 + Missense_Mutation SNP G G A TCGA-4Z-AA89-01A-11D-A391-08 TCGA-4Z-AA89-10A-01D-A394-08 g.chr5:133724024G>A c.250G>A c.(250-252)Gat>Aat p.D84N BLCA 5 133724024 133724024 + Missense_Mutation SNP G G T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 g.chr5:133724024G>T c.250G>T c.(250-252)Gat>Tat p.D84Y COAD 5 133716430 133716430 + Nonsense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:133716430G>T c.172G>T c.(172-174)Gaa>Taa p.E58* COAD 5 133724105 133724108 + Splice_Site DEL GTAA GTAA - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr5:133724105_133724108delGTAA c.e5+1 COAD 5 133726010 133726010 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr5:133726010C>T c.425C>T c.(424-426)tCg>tTg p.S142L COADREAD 5 133716430 133716430 + Nonsense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:133716430G>T c.172G>T c.(172-174)Gaa>Taa p.E58* COADREAD 5 133724105 133724108 + Splice_Site DEL GTAA GTAA - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr5:133724105_133724108delGTAA c.e5+1 COADREAD 5 133726010 133726010 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr5:133726010C>T c.425C>T c.(424-426)tCg>tTg p.S142L GBMLGG 5 133725924 133725924 + Silent SNP G G T TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 g.chr5:133725924G>T c.339G>T c.(337-339)ctG>ctT p.L113L LGG 5 133725924 133725924 + Silent SNP G G T TCGA-DU-7294-01A-11D-2024-08 TCGA-DU-7294-10A-01D-2024-08 g.chr5:133725924G>T c.339G>T c.(337-339)ctG>ctT p.L113L LUAD 5 133724037 133724037 + Missense_Mutation SNP G G A TCGA-97-A4M2-01A-12D-A24P-08 TCGA-97-A4M2-10A-01D-A24P-08 g.chr5:133724037G>A c.263G>A c.(262-264)tGt>tAt p.C88Y

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 5 133724024 133724024 single base substitution G T exon_variant BLCA-US 5 133724024 133724024 single base substitution G T intron_variant BLCA-US 5 133724024 133724024 single base substitution G T missense_variant D83Y 247G>T BLCA-US 5 133724024 133724024 single base substitution G T missense_variant D84Y 250G>T BRCA-EU 5 133703226 133703226 single base substitution G A upstream_gene_variant BRCA-EU 5 133705272 133705272 single base substitution A C upstream_gene_variant BRCA-EU 5 133708152 133708152 single base substitution T G intron_variant BRCA-EU 5 133708462 133708462 single base substitution A C intron_variant BRCA-EU 5 133708783 133708783 single base substitution C G intron_variant BRCA-EU 5 133709166 133709166 deletion of <=200bp T - intron_variant BRCA-EU 5 133710861 133710861 single base substitution T C downstream_gene_variant BRCA-EU 5 133710861 133710861 single base substitution T C intron_variant BRCA-EU 5 133711220 133711220 single base substitution T G downstream_gene_variant BRCA-EU 5 133711220 133711220 single base substitution T G intron_variant BRCA-EU 5 133711564 133711564 single base substitution G C downstream_gene_variant BRCA-EU 5 133711564 133711564 single base substitution G C intron_variant BRCA-EU 5 133712078 133712078 single base substitution G C downstream_gene_variant BRCA-EU 5 133712078 133712078 single base substitution G C intron_variant BRCA-EU 5 133712691 133712691 single base substitution G A downstream_gene_variant BRCA-EU 5 133712691 133712691 single base substitution G A intron_variant BRCA-EU 5 133713235 133713235 single base substitution G A downstream_gene_variant BRCA-EU 5 133713235 133713235 single base substitution G A intron_variant BRCA-EU 5 133713305 133713305 deletion of <=200bp G - downstream_gene_variant BRCA-EU 5 133713305 133713305 deletion of <=200bp G - intron_variant BRCA-EU 5 133713735 133713735 single base substitution A G downstream_gene_variant BRCA-EU 5 133713735 133713735 single base substitution A G intron_variant BRCA-EU 5 133714319 133714319 single base substitution G C downstream_gene_variant BRCA-EU 5 133714319 133714319 single base substitution G C intron_variant BRCA-EU 5 133716636 133716636 single base substitution T C intron_variant BRCA-EU 5 133716636 133716636 single base substitution T C upstream_gene_variant BRCA-EU 5 133717584 133717584 single base substitution G C intron_variant BRCA-EU 5 133717584 133717584 single base substitution G C upstream_gene_variant BRCA-EU 5 133718889 133718889 single base substitution G A intron_variant BRCA-EU 5 133718889 133718889 single base substitution G A upstream_gene_variant BRCA-EU 5 133718999 133718999 single base substitution T G intron_variant BRCA-EU 5 133718999 133718999 single base substitution T G upstream_gene_variant BRCA-EU 5 133719019 133719019 single base substitution G A intron_variant BRCA-EU 5 133719019 133719019 single base substitution G A upstream_gene_variant BRCA-EU 5 133719123 133719123 single base substitution C G intron_variant BRCA-EU 5 133719123 133719123 single base substitution C G upstream_gene_variant BRCA-EU 5 133719632 133719632 single base substitution C G intron_variant BRCA-EU 5 133719632 133719632 single base substitution C G upstream_gene_variant BRCA-EU 5 133719836 133719836 single base substitution G A intron_variant BRCA-EU 5 133719836 133719836 single base substitution G A upstream_gene_variant BRCA-EU 5 133720111 133720119 deletion of <=200bp CAGGTCATT - intron_variant BRCA-EU 5 133720111 133720119 deletion of <=200bp CAGGTCATT - upstream_gene_variant BRCA-EU 5 133721170 133721170 single base substitution G A intron_variant BRCA-EU 5 133721170 133721170 single base substitution G A upstream_gene_variant BRCA-EU 5 133721501 133721501 single base substitution G A intron_variant BRCA-EU 5 133721501 133721501 single base substitution G A upstream_gene_variant BRCA-EU 5 133725324 133725324 single base substitution C G intron_variant BRCA-EU 5 133725447 133725447 single base substitution A T intron_variant BRCA-EU 5 133729690 133729690 single base substitution G A downstream_gene_variant BRCA-EU 5 133730168 133730168 deletion of <=200bp T - downstream_gene_variant BRCA-FR 5 133703034 133703034 single base substitution G A upstream_gene_variant BRCA-FR 5 133710861 133710861 single base substitution T C downstream_gene_variant BRCA-FR 5 133710861 133710861 single base substitution T C intron_variant BRCA-FR 5 133712062 133712062 single base substitution A G downstream_gene_variant BRCA-FR 5 133712062 133712062 single base substitution A G intron_variant BRCA-KR 5 133710108 133710108 single base substitution G T exon_variant BRCA-KR 5 133710108 133710108 single base substitution G T missense_variant A24S 70G>T BRCA-KR 5 133710108 133710108 single base substitution G T missense_variant A26S 76G>T BRCA-KR 5 133710108 133710108 single base substitution G T missense_variant A27S 79G>T CESC-US 5 133707248 133707248 deletion of <=200bp T - 5_prime_UTR_variant CESC-US 5 133707248 133707248 deletion of <=200bp T - exon_variant CESC-US 5 133707248 133707248 deletion of <=200bp T - upstream_gene_variant CLLE-ES 5 133719512 133719512 single base substitution A G intron_variant CLLE-ES 5 133719512 133719512 single base substitution A G upstream_gene_variant COAD-US 5 133724105 133724108 deletion of <=200bp GTAA - intron_variant COAD-US 5 133724105 133724108 deletion of <=200bp GTAA - splice_donor_variant COCA-CN 5 133702067 133702067 single base substitution C A upstream_gene_variant COCA-CN 5 133702243 133702243 single base substitution G T upstream_gene_variant COCA-CN 5 133702285 133702285 single base substitution T A upstream_gene_variant COCA-CN 5 133707229 133707229 single base substitution T G 5_prime_UTR_variant COCA-CN 5 133707229 133707229 single base substitution T G exon_variant COCA-CN 5 133707229 133707229 single base substitution T G upstream_gene_variant COCA-CN 5 133709928 133709928 single base substitution T C intron_variant COCA-CN 5 133722380 133722380 single base substitution C G intron_variant COCA-CN 5 133722380 133722380 single base substitution C G upstream_gene_variant EOPC-DE 5 133705692 133705692 single base substitution C T upstream_gene_variant EOPC-DE 5 133708768 133708768 single base substitution A G intron_variant ESAD-UK 5 133702845 133702845 single base substitution G A upstream_gene_variant ESAD-UK 5 133703711 133703711 single base substitution C T upstream_gene_variant ESAD-UK 5 133706633 133706633 single base substitution A T upstream_gene_variant ESAD-UK 5 133707593 133707593 single base substitution C T intron_variant ESAD-UK 5 133708224 133708224 deletion of <=200bp T - intron_variant ESAD-UK 5 133714630 133714630 single base substitution A C downstream_gene_variant ESAD-UK 5 133714630 133714630 single base substitution A C intron_variant ESAD-UK 5 133717224 133717224 single base substitution A G intron_variant ESAD-UK 5 133717224 133717224 single base substitution A G upstream_gene_variant ESAD-UK 5 133717626 133717627 deletion of <=200bp CT - intron_variant ESAD-UK 5 133717626 133717627 deletion of <=200bp CT - upstream_gene_variant ESAD-UK 5 133718509 133718509 insertion of <=200bp - T intron_variant ESAD-UK 5 133718509 133718509 insertion of <=200bp - T upstream_gene_variant ESAD-UK 5 133718643 133718643 single base substitution G A intron_variant ESAD-UK 5 133718643 133718643 single base substitution G A upstream_gene_variant ESAD-UK 5 133720243 133720243 single base substitution A C intron_variant ESAD-UK 5 133720243 133720243 single base substitution A C upstream_gene_variant ESAD-UK 5 133721243 133721243 single base substitution A G intron_variant ESAD-UK 5 133721243 133721243 single base substitution A G upstream_gene_variant ESAD-UK 5 133722272 133722272 single base substitution G C intron_variant ESAD-UK 5 133722272 133722272 single base substitution G C upstream_gene_variant ESAD-UK 5 133725375 133725375 single base substitution T G intron_variant ESAD-UK 5 133730168 133730168 deletion of <=200bp T - downstream_gene_variant LGG-US 5 133725924 133725924 single base substitution G T 3_prime_UTR_variant LGG-US 5 133725924 133725924 single base substitution G T exon_variant LGG-US 5 133725924 133725924 single base substitution G T stop_gained G138* 412G>T LGG-US 5 133725924 133725924 single base substitution G T synonymous_variant L101L 303G>T LGG-US 5 133725924 133725924 single base substitution G T synonymous_variant L113L 339G>T LICA-FR 5 133730011 133730011 single base substitution A T downstream_gene_variant LINC-JP 5 133702557 133702557 single base substitution G A upstream_gene_variant LINC-JP 5 133702933 133702933 single base substitution C T upstream_gene_variant LINC-JP 5 133710017 133710017 single base substitution T C intron_variant LINC-JP 5 133712373 133712373 single base substitution C A downstream_gene_variant LINC-JP 5 133712373 133712373 single base substitution C A intron_variant LINC-JP 5 133712373 133712373 single base substitution C A missense_variant P44T 130C>A LINC-JP 5 133712373 133712373 single base substitution C A missense_variant P46T 136C>A LINC-JP 5 133712373 133712373 single base substitution C A missense_variant P47T 139C>A LINC-JP 5 133714619 133714619 single base substitution C A downstream_gene_variant LINC-JP 5 133714619 133714619 single base substitution C A intron_variant LINC-JP 5 133724138 133724138 single base substitution A C intron_variant LINC-JP 5 133724148 133724148 single base substitution A C intron_variant LINC-JP 5 133727326 133727326 single base substitution T C 3_prime_UTR_variant LINC-JP 5 133727326 133727326 single base substitution T C downstream_gene_variant LIRI-JP 5 133703291 133703291 single base substitution C A upstream_gene_variant LIRI-JP 5 133704578 133704578 single base substitution G A upstream_gene_variant LIRI-JP 5 133704688 133704688 single base substitution A C upstream_gene_variant LIRI-JP 5 133705963 133705970 deletion of <=200bp TGGAAGCA - upstream_gene_variant LIRI-JP 5 133707678 133707678 single base substitution C T intron_variant LIRI-JP 5 133708250 133708250 single base substitution T A intron_variant LIRI-JP 5 133708725 133708725 single base substitution A C intron_variant LIRI-JP 5 133710377 133710377 single base substitution C T downstream_gene_variant LIRI-JP 5 133710377 133710377 single base substitution C T intron_variant LIRI-JP 5 133711156 133711156 single base substitution G A downstream_gene_variant LIRI-JP 5 133711156 133711156 single base substitution G A intron_variant LIRI-JP 5 133712147 133712147 single base substitution A G downstream_gene_variant LIRI-JP 5 133712147 133712147 single base substitution A G intron_variant LIRI-JP 5 133713023 133713023 single base substitution T G downstream_gene_variant LIRI-JP 5 133713023 133713023 single base substitution T G intron_variant LIRI-JP 5 133714067 133714067 single base substitution C T downstream_gene_variant LIRI-JP 5 133714067 133714067 single base substitution C T intron_variant LIRI-JP 5 133715264 133715264 single base substitution G C downstream_gene_variant LIRI-JP 5 133715264 133715264 single base substitution G C intron_variant LIRI-JP 5 133717747 133717747 single base substitution A C intron_variant LIRI-JP 5 133717747 133717747 single base substitution A C upstream_gene_variant LIRI-JP 5 133718351 133718351 single base substitution G A intron_variant LIRI-JP 5 133718351 133718351 single base substitution G A upstream_gene_variant LIRI-JP 5 133721277 133721277 single base substitution T A intron_variant LIRI-JP 5 133721277 133721277 single base substitution T A upstream_gene_variant LIRI-JP 5 133724504 133724504 single base substitution A G intron_variant LIRI-JP 5 133727149 133727149 single base substitution A C 3_prime_UTR_variant LIRI-JP 5 133727149 133727149 single base substitution A C downstream_gene_variant LIRI-JP 5 133727201 133727201 single base substitution T A 3_prime_UTR_variant LIRI-JP 5 133727201 133727201 single base substitution T A downstream_gene_variant LIRI-JP 5 133728104 133728104 single base substitution A G downstream_gene_variant LIRI-JP 5 133728161 133728161 single base substitution A G downstream_gene_variant LIRI-JP 5 133729883 133729883 single base substitution T C downstream_gene_variant LIRI-JP 5 133731272 133731272 single base substitution A G downstream_gene_variant LIRI-JP 5 133731800 133731800 single base substitution A G downstream_gene_variant LUSC-KR 5 133711922 133711922 single base substitution A T downstream_gene_variant LUSC-KR 5 133711922 133711922 single base substitution A T intron_variant LUSC-KR 5 133726786 133726786 single base substitution C G 3_prime_UTR_variant LUSC-KR 5 133726786 133726786 single base substitution C G downstream_gene_variant MALY-DE 5 133720224 133720224 single base substitution G C intron_variant MALY-DE 5 133720224 133720224 single base substitution G C upstream_gene_variant MALY-DE 5 133720740 133720740 single base substitution G A intron_variant MALY-DE 5 133720740 133720740 single base substitution G A upstream_gene_variant MALY-DE 5 133727870 133727870 single base substitution T G downstream_gene_variant MALY-DE 5 133730507 133730507 single base substitution A T downstream_gene_variant MALY-DE 5 133730563 133730563 single base substitution A T downstream_gene_variant MALY-DE 5 133730706 133730706 single base substitution A G downstream_gene_variant MELA-AU 5 133702034 133702034 single base substitution G A upstream_gene_variant MELA-AU 5 133702364 133702364 single base substitution A G upstream_gene_variant MELA-AU 5 133702909 133702909 single base substitution G A upstream_gene_variant MELA-AU 5 133702909 133702910 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 133702910 133702910 single base substitution G A upstream_gene_variant MELA-AU 5 133703500 133703500 single base substitution C T upstream_gene_variant MELA-AU 5 133704204 133704204 single base substitution G A upstream_gene_variant MELA-AU 5 133704205 133704205 single base substitution G A upstream_gene_variant MELA-AU 5 133705055 133705055 single base substitution C T upstream_gene_variant MELA-AU 5 133705274 133705274 single base substitution G A upstream_gene_variant MELA-AU 5 133705468 133705468 single base substitution G A upstream_gene_variant MELA-AU 5 133705774 133705774 single base substitution A G upstream_gene_variant MELA-AU 5 133706083 133706083 single base substitution G A upstream_gene_variant MELA-AU 5 133706104 133706104 single base substitution C T upstream_gene_variant MELA-AU 5 133706106 133706106 single base substitution C A upstream_gene_variant MELA-AU 5 133706749 133706749 single base substitution G A upstream_gene_variant MELA-AU 5 133706798 133706799 multiple base substitution (>=2bp and <=200bp) TG AT upstream_gene_variant MELA-AU 5 133706799 133706799 single base substitution G A upstream_gene_variant MELA-AU 5 133707002 133707002 single base substitution C T 5_prime_UTR_variant MELA-AU 5 133707002 133707002 single base substitution C T upstream_gene_variant MELA-AU 5 133709309 133709309 single base substitution A G intron_variant MELA-AU 5 133710070 133710070 single base substitution C T intron_variant MELA-AU 5 133710070 133710070 single base substitution C T splice_region_variant MELA-AU 5 133711915 133711915 single base substitution A T downstream_gene_variant MELA-AU 5 133711915 133711915 single base substitution A T intron_variant MELA-AU 5 133711991 133711991 single base substitution G A downstream_gene_variant MELA-AU 5 133711991 133711991 single base substitution G A intron_variant MELA-AU 5 133712992 133712992 single base substitution C G downstream_gene_variant MELA-AU 5 133712992 133712992 single base substitution C G intron_variant MELA-AU 5 133713337 133713337 single base substitution G A downstream_gene_variant MELA-AU 5 133713337 133713337 single base substitution G A intron_variant MELA-AU 5 133713384 133713384 single base substitution C T downstream_gene_variant MELA-AU 5 133713384 133713384 single base substitution C T intron_variant MELA-AU 5 133714224 133714224 single base substitution G C downstream_gene_variant MELA-AU 5 133714224 133714224 single base substitution G C intron_variant MELA-AU 5 133714542 133714542 single base substitution C T downstream_gene_variant MELA-AU 5 133714542 133714542 single base substitution C T intron_variant MELA-AU 5 133714557 133714557 single base substitution T C downstream_gene_variant MELA-AU 5 133714557 133714557 single base substitution T C intron_variant MELA-AU 5 133714787 133714787 single base substitution G A downstream_gene_variant MELA-AU 5 133714787 133714787 single base substitution G A intron_variant MELA-AU 5 133715116 133715116 single base substitution C T downstream_gene_variant MELA-AU 5 133715116 133715116 single base substitution C T intron_variant MELA-AU 5 133715755 133715755 single base substitution C T intron_variant MELA-AU 5 133715920 133715920 single base substitution G A intron_variant MELA-AU 5 133716063 133716063 single base substitution C G intron_variant MELA-AU 5 133716553 133716553 single base substitution C T intron_variant MELA-AU 5 133716553 133716553 single base substitution C T upstream_gene_variant MELA-AU 5 133717585 133717585 single base substitution A G intron_variant MELA-AU 5 133717585 133717585 single base substitution A G upstream_gene_variant MELA-AU 5 133718855 133718855 deletion of <=200bp A - intron_variant MELA-AU 5 133718855 133718855 deletion of <=200bp A - upstream_gene_variant MELA-AU 5 133718894 133718894 single base substitution A G intron_variant MELA-AU 5 133718894 133718894 single base substitution A G upstream_gene_variant MELA-AU 5 133719214 133719214 single base substitution G A intron_variant MELA-AU 5 133719214 133719214 single base substitution G A upstream_gene_variant MELA-AU 5 133719395 133719395 single base substitution G A intron_variant MELA-AU 5 133719395 133719395 single base substitution G A upstream_gene_variant MELA-AU 5 133719462 133719462 single base substitution C T intron_variant MELA-AU 5 133719462 133719462 single base substitution C T upstream_gene_variant MELA-AU 5 133720809 133720809 single base substitution T A intron_variant MELA-AU 5 133720809 133720809 single base substitution T A upstream_gene_variant MELA-AU 5 133722683 133722683 single base substitution C T intron_variant MELA-AU 5 133722683 133722683 single base substitution C T upstream_gene_variant MELA-AU 5 133722691 133722691 single base substitution C T intron_variant MELA-AU 5 133722691 133722691 single base substitution C T upstream_gene_variant MELA-AU 5 133722778 133722778 single base substitution G A intron_variant MELA-AU 5 133722778 133722778 single base substitution G A upstream_gene_variant MELA-AU 5 133723166 133723166 single base substitution T A intron_variant MELA-AU 5 133723166 133723166 single base substitution T A upstream_gene_variant MELA-AU 5 133723584 133723584 single base substitution C T intron_variant MELA-AU 5 133723584 133723584 single base substitution C T upstream_gene_variant MELA-AU 5 133725153 133725153 single base substitution C T intron_variant MELA-AU 5 133725472 133725472 single base substitution A G intron_variant MELA-AU 5 133726208 133726208 single base substitution A C 3_prime_UTR_variant MELA-AU 5 133726208 133726208 single base substitution A C downstream_gene_variant MELA-AU 5 133726208 133726208 single base substitution A C exon_variant MELA-AU 5 133726379 133726379 single base substitution T A 3_prime_UTR_variant MELA-AU 5 133726379 133726379 single base substitution T A downstream_gene_variant MELA-AU 5 133726379 133726379 single base substitution T A exon_variant MELA-AU 5 133728071 133728071 single base substitution C T downstream_gene_variant MELA-AU 5 133728142 133728142 single base substitution G T downstream_gene_variant MELA-AU 5 133729356 133729356 single base substitution C T downstream_gene_variant MELA-AU 5 133730617 133730617 single base substitution C T downstream_gene_variant MELA-AU 5 133731218 133731218 single base substitution A G downstream_gene_variant MELA-AU 5 133731674 133731674 single base substitution C T downstream_gene_variant MELA-AU 5 133732029 133732029 single base substitution C T downstream_gene_variant OV-AU 5 133703287 133703287 single base substitution A C upstream_gene_variant OV-AU 5 133708564 133708564 single base substitution A C intron_variant OV-AU 5 133708613 133708613 single base substitution G C intron_variant OV-AU 5 133711563 133711563 single base substitution A C downstream_gene_variant OV-AU 5 133711563 133711563 single base substitution A C intron_variant OV-AU 5 133711946 133711946 single base substitution G C downstream_gene_variant OV-AU 5 133711946 133711946 single base substitution G C intron_variant OV-AU 5 133717442 133717442 single base substitution C A intron_variant OV-AU 5 133717442 133717442 single base substitution C A upstream_gene_variant OV-AU 5 133720756 133720756 single base substitution T G intron_variant OV-AU 5 133720756 133720756 single base substitution T G upstream_gene_variant OV-AU 5 133723574 133723574 single base substitution A T intron_variant OV-AU 5 133723574 133723574 single base substitution A T upstream_gene_variant PACA-AU 5 133703426 133703426 single base substitution C G upstream_gene_variant PACA-AU 5 133719240 133719240 single base substitution C G intron_variant PACA-AU 5 133719240 133719240 single base substitution C G upstream_gene_variant PACA-AU 5 133720565 133720568 deletion of <=200bp GTAA - intron_variant PACA-AU 5 133720565 133720568 deletion of <=200bp GTAA - upstream_gene_variant PACA-AU 5 133724143 133724143 single base substitution T A intron_variant PACA-AU 5 133727939 133727939 single base substitution C T downstream_gene_variant PACA-CA 5 133713305 133713305 deletion of <=200bp G - downstream_gene_variant PACA-CA 5 133713305 133713305 deletion of <=200bp G - intron_variant PACA-CA 5 133715268 133715268 single base substitution C T downstream_gene_variant PACA-CA 5 133715268 133715268 single base substitution C T intron_variant PACA-CA 5 133715944 133715944 single base substitution G T intron_variant PACA-CA 5 133720380 133720380 single base substitution T A intron_variant PACA-CA 5 133720380 133720380 single base substitution T A upstream_gene_variant PACA-CA 5 133721232 133721232 single base substitution C T intron_variant PACA-CA 5 133721232 133721232 single base substitution C T upstream_gene_variant PACA-CA 5 133723291 133723291 single base substitution C T intron_variant PACA-CA 5 133723291 133723291 single base substitution C T upstream_gene_variant PACA-CA 5 133724460 133724472 deletion of <=200bp CTAATGTAACCAT - intron_variant PACA-CA 5 133724465 133724465 single base substitution G A intron_variant PACA-CA 5 133727416 133727416 single base substitution G A 3_prime_UTR_variant PACA-CA 5 133727416 133727416 single base substitution G A downstream_gene_variant PACA-CA 5 133728704 133728704 single base substitution T G downstream_gene_variant PAEN-AU 5 133708146 133708146 single base substitution C A intron_variant PAEN-AU 5 133708772 133708772 single base substitution T C intron_variant PAEN-IT 5 133727184 133727184 single base substitution A G 3_prime_UTR_variant PAEN-IT 5 133727184 133727184 single base substitution A G downstream_gene_variant PBCA-DE 5 133702201 133702201 single base substitution T C upstream_gene_variant PBCA-DE 5 133714641 133714641 single base substitution T G downstream_gene_variant PBCA-DE 5 133714641 133714641 single base substitution T G intron_variant PBCA-DE 5 133728463 133728463 single base substitution C G downstream_gene_variant PRAD-CA 5 133707699 133707699 single base substitution G C intron_variant PRAD-CA 5 133721879 133721879 single base substitution C A intron_variant PRAD-CA 5 133721879 133721879 single base substitution C A upstream_gene_variant PRAD-UK 5 133708889 133708889 single base substitution T C intron_variant PRAD-UK 5 133722027 133722027 single base substitution A G intron_variant PRAD-UK 5 133722027 133722027 single base substitution A G upstream_gene_variant RECA-EU 5 133702703 133702703 single base substitution C G upstream_gene_variant RECA-EU 5 133706761 133706761 single base substitution T C upstream_gene_variant RECA-EU 5 133731960 133731960 single base substitution A T downstream_gene_variant RECA-EU 5 133732157 133732157 single base substitution A T downstream_gene_variant SKCA-BR 5 133702262 133702262 single base substitution G A upstream_gene_variant SKCA-BR 5 133704309 133704310 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 5 133706885 133706885 single base substitution A C 5_prime_UTR_variant SKCA-BR 5 133706885 133706885 single base substitution A C upstream_gene_variant SKCA-BR 5 133707107 133707107 single base substitution G A 5_prime_UTR_variant SKCA-BR 5 133707107 133707107 single base substitution G A upstream_gene_variant SKCA-BR 5 133707578 133707578 single base substitution A G intron_variant SKCA-BR 5 133714619 133714620 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 5 133714619 133714620 deletion of <=200bp CA - intron_variant SKCA-BR 5 133718701 133718701 single base substitution C A intron_variant SKCA-BR 5 133718701 133718701 single base substitution C A upstream_gene_variant SKCA-BR 5 133719166 133719166 single base substitution T A intron_variant SKCA-BR 5 133719166 133719166 single base substitution T A upstream_gene_variant SKCA-BR 5 133720011 133720011 single base substitution T G intron_variant SKCA-BR 5 133720011 133720011 single base substitution T G upstream_gene_variant SKCA-BR 5 133721830 133721830 single base substitution C T intron_variant SKCA-BR 5 133721830 133721830 single base substitution C T upstream_gene_variant SKCA-BR 5 133725235 133725235 single base substitution C T intron_variant SKCA-BR 5 133728711 133728711 single base substitution C A downstream_gene_variant SKCA-BR 5 133729312 133729312 single base substitution C T downstream_gene_variant SKCA-BR 5 133729899 133729899 single base substitution C T downstream_gene_variant UCEC-US 5 133702067 133702067 single base substitution C A upstream_gene_variant UCEC-US 5 133702143 133702143 single base substitution C A upstream_gene_variant UCEC-US 5 133716430 133716430 single base substitution G T intron_variant UCEC-US 5 133716430 133716430 single base substitution G T stop_gained E55* 163G>T UCEC-US 5 133716430 133716430 single base substitution G T stop_gained E57* 169G>T UCEC-US 5 133716430 133716430 single base substitution G T stop_gained E58* 172G>T UCEC-US 5 133716430 133716430 single base substitution G T upstream_gene_variant UCEC-US 5 133724057 133724057 single base substitution C T 3_prime_UTR_variant UCEC-US 5 133724057 133724057 single base substitution C T exon_variant UCEC-US 5 133724057 133724057 single base substitution C T intron_variant UCEC-US 5 133724057 133724057 single base substitution C T stop_gained R83* 247C>T UCEC-US 5 133724057 133724057 single base substitution C T stop_gained R94* 280C>T UCEC-US 5 133724057 133724057 single base substitution C T stop_gained R95* 283C>T UCEC-US 5 133726010 133726010 single base substitution C T 3_prime_UTR_variant UCEC-US 5 133726010 133726010 single base substitution C T downstream_gene_variant UCEC-US 5 133726010 133726010 single base substitution C T exon_variant UCEC-US 5 133726010 133726010 single base substitution C T missense_variant S130L 389C>T UCEC-US 5 133726010 133726010 single base substitution C T missense_variant S142L 425C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 86785 COSM96255 c.306A>G p.V102V Substitution - coding silent 5:134388389-134388389 + TCGA-AP-A0LM-01 COSM1060882 c.283C>T p.R95* Substitution - Nonsense 5:134388366-134388366 + TCGA-AA-3663-01 COSM1433174 c.330+1_330+4delGTAA p.? Unknown 5:134388414-134388417 + pfg019T COSM1642591 c.313A>G p.I105V Substitution - Missense 5:134388396-134388396 + TCGA-DU-7294-01 COSM3975164 c.339G>T p.L113L Substitution - coding silent 5:134390233-134390233 + KPOPBR-31-T COSM5963968 c.79G>T p.A27S Substitution - Missense 5:134374417-134374417 + HX12T COSM1619468 c.139C>A p.P47T Substitution - Missense 5:134376682-134376682 + TCGA-AX-A05Z-01 COSM204337 c.172G>T p.E58* Substitution - Nonsense 5:134380739-134380739 + TCGA-AA-A00N-01 COSM277982 c.425C>T p.S142L Substitution - Missense 5:134390319-134390319 + TCGA-CZ-5452-01 COSM481935 c.98T>C p.I33T Substitution - Missense 5:134374436-134374436 + T3024 COSM4738665 c.426G>A p.S142S Substitution - coding silent 5:134390320-134390320 + YUKLAB COSM1696201 c.311C>T p.S104F Substitution - Missense 5:134388394-134388394 + TCGA-GC-A3YS-01 COSM3776182 c.250G>T p.D84Y Substitution - Missense 5:134388333-134388333 + TCGA-AP-A0LM-01 COSM277982 c.425C>T p.S142L Substitution - Missense 5:134390319-134390319 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.612028;Hs.612029;Hs.612030;Hs.612031;Hs.612032;Hs.612033;Hs.612034;Hs.612036;Hs.612037;Hs.612040;Hs.612041;Hs.612049;Hs.612050;Hs.612054;Hs.612056;Hs.612059;Hs.612063;Hs.612064;Hs.612074;Hs.612078;Hs.612079;Hs.612080;Hs.612085;Hs.612091;Hs.612096 5q31.1 179095 2424400|dbSNP|BC005979|C/T|coding|Ser74Ser|248|Validated; 2424400|dbSNP|BC008404|C/T|coding|Ser74Ser|308|Validated; 2424400|dbSNP|BC008470|C/T|coding|Ser74Ser|308|Validated Hs.730058;Hs.730059;Hs.730062;Hs.730063;Hs.730064;Hs.730066;Hs.730069;Hs.730070;Hs.730071 5q31.1 179095 2424400|dbSNP|BC005979|C/T|coding|Ser74Ser|248|Validated; 2424400|dbSNP|BC008404|C/T|coding|Ser74Ser|308|Validated; 2424400|dbSNP|BC008470|C/T|coding|Ser74Ser|308|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.456+1108A>C 5 133727149 HC A G Missense p.I105V c.313A>G 5 133724087 STAD TT - IntronicDeletion . c.151+1996_151+1997delTT 5 133714376 CM