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 133494131 133494131 + Intron SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr5:133494131C>G BLCA 5 133494205 133494205 + Missense_Mutation SNP C C G TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr5:133494205C>G c.397G>C c.(397-399)Gag>Cag p.E133Q BLCA 5 133494205 133494205 + Missense_Mutation SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr5:133494205C>T c.397G>A c.(397-399)Gag>Aag p.E133K BLCA 5 133496722 133496722 + Nonsense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr5:133496722C>A c.271G>T c.(271-273)Gaa>Taa p.E91* BLCA 5 133496746 133496746 + Missense_Mutation SNP C C T TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr5:133496746C>T c.247G>A c.(247-249)Gat>Aat p.D83N BLCA 5 133496770 133496770 + Missense_Mutation SNP C C T TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr5:133496770C>T c.223G>A c.(223-225)Gat>Aat p.D75N BLCA 5 133502935 133502935 + Splice_Site SNP C C T TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr5:133502935C>T c.e3-1 BRCA 5 133494205 133494205 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr5:133494205C>G c.397G>C c.(397-399)Gag>Cag p.E133Q COAD 5 133494191 133494191 + Missense_Mutation SNP C C A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr5:133494191C>A c.411G>T c.(409-411)aaG>aaT p.K137N COAD 5 133494196 133494196 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:133494196G>A c.406C>T c.(406-408)Cgc>Tgc p.R136C COADREAD 5 133494191 133494191 + Missense_Mutation SNP C C A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr5:133494191C>A c.411G>T c.(409-411)aaG>aaT p.K137N COADREAD 5 133494196 133494196 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:133494196G>A c.406C>T c.(406-408)Cgc>Tgc p.R136C DLBC 5 133494195 133494195 + Missense_Mutation SNP C C T TCGA-FF-8041-01A-11D-2210-10 TCGA-FF-8041-10A-01D-2210-10 g.chr5:133494195C>T c.407G>A c.(406-408)cGc>cAc p.R136H HNSC 5 133494134 133494134 + Intron SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr5:133494134T>C HNSC 5 133502896 133502896 + Missense_Mutation SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 g.chr5:133502896G>A c.136C>T c.(136-138)Cct>Tct p.P46S LIHC 5 133494206 133494206 + Silent SNP A A C TCGA-FV-A3R2-01A-11D-A22F-10 TCGA-FV-A3R2-11A-11D-A22F-10 g.chr5:133494206A>C c.396T>G c.(394-396)ccT>ccG p.P132P LUAD 5 133494285 133494285 + Splice_Site SNP G G C TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr5:133494285G>C c.317C>G c.(316-318)gCt>gGt p.A106G LUAD 5 133496684 133496684 + Silent SNP G G T TCGA-86-8672-01A-21D-2393-08 TCGA-86-8672-10A-01D-2393-08 g.chr5:133496684G>T c.309C>A c.(307-309)ctC>ctA p.L103L LUAD 5 133496754 133496754 + Missense_Mutation SNP T T C TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr5:133496754T>C c.239A>G c.(238-240)aAg>aGg p.K80R LUAD 5 133502893 133502893 + Missense_Mutation SNP G G C TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chr5:133502893G>C c.139C>G c.(139-141)Cta>Gta p.L47V LUAD 5 133509710 133509710 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chr5:133509710G>A c.4C>T c.(4-6)Cct>Tct p.P2S LUSC 5 133496743 133496743 + Missense_Mutation SNP C C T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 g.chr5:133496743C>T c.250G>A c.(250-252)Gat>Aat p.D84N PAAD 5 133496781 133496781 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:133496781G>A c.212C>T c.(211-213)cCt>cTt p.P71L SKCM 5 133509699 133509699 + Silent SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr5:133509699C>T c.15G>A c.(13-15)aaG>aaA p.K5K

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 133502935 133502935 single base substitution C T splice_acceptor_variant BRCA-EU 5 133479988 133479988 single base substitution A G downstream_gene_variant BRCA-EU 5 133482119 133482119 single base substitution C A downstream_gene_variant BRCA-EU 5 133484840 133484840 single base substitution T G 3_prime_UTR_variant BRCA-EU 5 133485814 133485814 insertion of <=200bp - C 3_prime_UTR_variant BRCA-EU 5 133485883 133485883 single base substitution C G 3_prime_UTR_variant BRCA-EU 5 133487873 133487876 deletion of <=200bp AAAT - 3_prime_UTR_variant BRCA-EU 5 133489313 133489313 single base substitution G C 3_prime_UTR_variant BRCA-EU 5 133489313 133489313 single base substitution G C downstream_gene_variant BRCA-EU 5 133489858 133489858 single base substitution G T 3_prime_UTR_variant BRCA-EU 5 133489858 133489858 single base substitution G T downstream_gene_variant BRCA-EU 5 133490813 133490813 single base substitution A T 3_prime_UTR_variant BRCA-EU 5 133490813 133490813 single base substitution A T downstream_gene_variant BRCA-EU 5 133494381 133494381 single base substitution A C downstream_gene_variant BRCA-EU 5 133494381 133494381 single base substitution A C intron_variant BRCA-EU 5 133494648 133494648 single base substitution G C downstream_gene_variant BRCA-EU 5 133494648 133494648 single base substitution G C intron_variant BRCA-EU 5 133495154 133495154 single base substitution C G downstream_gene_variant BRCA-EU 5 133495154 133495154 single base substitution C G intron_variant BRCA-EU 5 133495376 133495376 single base substitution C G downstream_gene_variant BRCA-EU 5 133495376 133495376 single base substitution C G intron_variant BRCA-EU 5 133497711 133497711 single base substitution G A intron_variant BRCA-EU 5 133497711 133497711 single base substitution G A upstream_gene_variant BRCA-EU 5 133498380 133498380 single base substitution G C intron_variant BRCA-EU 5 133498380 133498380 single base substitution G C upstream_gene_variant BRCA-EU 5 133498447 133498447 single base substitution G A intron_variant BRCA-EU 5 133498447 133498447 single base substitution G A upstream_gene_variant BRCA-EU 5 133501869 133501869 single base substitution C T intron_variant BRCA-EU 5 133501869 133501869 single base substitution C T upstream_gene_variant BRCA-EU 5 133502050 133502050 single base substitution G A intron_variant BRCA-EU 5 133502050 133502050 single base substitution G A upstream_gene_variant BRCA-EU 5 133502568 133502568 single base substitution G C intron_variant BRCA-EU 5 133502568 133502568 single base substitution G C upstream_gene_variant BRCA-EU 5 133503083 133503083 deletion of <=200bp A - intron_variant BRCA-EU 5 133504380 133504380 single base substitution G T downstream_gene_variant BRCA-EU 5 133504380 133504380 single base substitution G T intron_variant BRCA-EU 5 133505191 133505191 single base substitution G C downstream_gene_variant BRCA-EU 5 133505191 133505191 single base substitution G C intron_variant BRCA-EU 5 133505272 133505272 single base substitution T C downstream_gene_variant BRCA-EU 5 133505272 133505272 single base substitution T C intron_variant BRCA-EU 5 133505517 133505517 single base substitution C G downstream_gene_variant BRCA-EU 5 133505517 133505517 single base substitution C G intron_variant BRCA-EU 5 133505584 133505584 single base substitution C G downstream_gene_variant BRCA-EU 5 133505584 133505584 single base substitution C G intron_variant BRCA-EU 5 133505863 133505863 single base substitution A G downstream_gene_variant BRCA-EU 5 133505863 133505863 single base substitution A G intron_variant BRCA-EU 5 133508168 133508168 single base substitution C G downstream_gene_variant BRCA-EU 5 133508168 133508168 single base substitution C G intron_variant BRCA-EU 5 133509716 133509716 deletion of <=200bp A - intron_variant BRCA-EU 5 133509716 133509716 deletion of <=200bp A - splice_region_variant BRCA-EU 5 133513059 133513059 insertion of <=200bp - G upstream_gene_variant BRCA-EU 5 133514424 133514424 single base substitution G A upstream_gene_variant BRCA-FR 5 133488586 133488586 single base substitution C G 3_prime_UTR_variant BRCA-FR 5 133488586 133488586 single base substitution C G downstream_gene_variant BRCA-FR 5 133502568 133502568 single base substitution G C intron_variant BRCA-FR 5 133502568 133502568 single base substitution G C upstream_gene_variant BRCA-FR 5 133504380 133504380 single base substitution G T downstream_gene_variant BRCA-FR 5 133504380 133504380 single base substitution G T intron_variant BRCA-FR 5 133505191 133505191 single base substitution G C downstream_gene_variant BRCA-FR 5 133505191 133505191 single base substitution G C intron_variant BRCA-UK 5 133482036 133482036 single base substitution C A downstream_gene_variant BRCA-US 5 133494205 133494205 single base substitution C G 3_prime_UTR_variant BRCA-US 5 133494205 133494205 single base substitution C G downstream_gene_variant BRCA-US 5 133494205 133494205 single base substitution C G exon_variant BRCA-US 5 133494205 133494205 single base substitution C G missense_variant E133Q 397G>C BTCA-JP 5 133487448 133487448 single base substitution T C 3_prime_UTR_variant BTCA-JP 5 133509716 133509716 deletion of <=200bp A - intron_variant BTCA-JP 5 133509716 133509716 deletion of <=200bp A - splice_region_variant CLLE-ES 5 133484376 133484376 single base substitution T A downstream_gene_variant CLLE-ES 5 133489290 133489290 single base substitution G T 3_prime_UTR_variant CLLE-ES 5 133489290 133489290 single base substitution G T downstream_gene_variant CLLE-ES 5 133494449 133494449 deletion of <=200bp A - downstream_gene_variant CLLE-ES 5 133494449 133494449 deletion of <=200bp A - intron_variant COAD-US 5 133480497 133480497 single base substitution C T downstream_gene_variant COAD-US 5 133494196 133494196 single base substitution G A 3_prime_UTR_variant COAD-US 5 133494196 133494196 single base substitution G A downstream_gene_variant COAD-US 5 133494196 133494196 single base substitution G A exon_variant COAD-US 5 133494196 133494196 single base substitution G A missense_variant R136C 406C>T COAD-US 5 133509716 133509716 deletion of <=200bp A - intron_variant COAD-US 5 133509716 133509716 deletion of <=200bp A - splice_region_variant COCA-CN 5 133487390 133487390 single base substitution G A 3_prime_UTR_variant COCA-CN 5 133493540 133493540 single base substitution G A 3_prime_UTR_variant COCA-CN 5 133493540 133493540 single base substitution G A downstream_gene_variant COCA-CN 5 133493540 133493540 single base substitution G A exon_variant COCA-CN 5 133493540 133493540 single base substitution G A intron_variant COCA-CN 5 133506603 133506603 single base substitution G A downstream_gene_variant COCA-CN 5 133506603 133506603 single base substitution G A intron_variant ESAD-UK 5 133481945 133481945 single base substitution C T downstream_gene_variant ESAD-UK 5 133483329 133483329 single base substitution C T downstream_gene_variant ESAD-UK 5 133483392 133483392 single base substitution C T downstream_gene_variant ESAD-UK 5 133483891 133483891 insertion of <=200bp - TT downstream_gene_variant ESAD-UK 5 133487020 133487020 single base substitution A T 3_prime_UTR_variant ESAD-UK 5 133489983 133489983 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 5 133489983 133489983 insertion of <=200bp - A downstream_gene_variant ESAD-UK 5 133490232 133490232 single base substitution T G 3_prime_UTR_variant ESAD-UK 5 133490232 133490232 single base substitution T G downstream_gene_variant ESAD-UK 5 133498431 133498432 deletion of <=200bp AA - intron_variant ESAD-UK 5 133498431 133498432 deletion of <=200bp AA - upstream_gene_variant ESAD-UK 5 133499496 133499496 single base substitution A C intron_variant ESAD-UK 5 133499496 133499496 single base substitution A C upstream_gene_variant ESAD-UK 5 133502432 133502432 single base substitution T G intron_variant ESAD-UK 5 133502432 133502432 single base substitution T G upstream_gene_variant ESAD-UK 5 133503022 133503022 single base substitution C T intron_variant ESAD-UK 5 133507649 133507649 single base substitution T G downstream_gene_variant ESAD-UK 5 133507649 133507649 single base substitution T G intron_variant ESAD-UK 5 133508985 133508985 single base substitution C T downstream_gene_variant ESAD-UK 5 133508985 133508985 single base substitution C T intron_variant ESAD-UK 5 133513630 133513630 single base substitution A G upstream_gene_variant LAML-KR 5 133505716 133505716 single base substitution T C downstream_gene_variant LAML-KR 5 133505716 133505716 single base substitution T C intron_variant LICA-CN 5 133480531 133480531 single base substitution C A downstream_gene_variant LICA-FR 5 133481484 133481484 single base substitution C A downstream_gene_variant LICA-FR 5 133485693 133485693 single base substitution C T 3_prime_UTR_variant LICA-FR 5 133508769 133508769 single base substitution A C downstream_gene_variant LICA-FR 5 133508769 133508769 single base substitution A C intron_variant LICA-FR 5 133511898 133511898 single base substitution C T intron_variant LICA-FR 5 133511898 133511898 single base substitution C T upstream_gene_variant LIHC-US 5 133494206 133494206 single base substitution A C 3_prime_UTR_variant LIHC-US 5 133494206 133494206 single base substitution A C downstream_gene_variant LIHC-US 5 133494206 133494206 single base substitution A C exon_variant LIHC-US 5 133494206 133494206 single base substitution A C synonymous_variant P132P 396T>G LINC-JP 5 133480718 133480718 single base substitution C A downstream_gene_variant LINC-JP 5 133481934 133481934 single base substitution C A downstream_gene_variant LINC-JP 5 133497750 133497750 insertion of <=200bp - A intron_variant LINC-JP 5 133497750 133497750 insertion of <=200bp - A upstream_gene_variant LINC-JP 5 133499179 133499179 deletion of <=200bp A - intron_variant LINC-JP 5 133499179 133499179 deletion of <=200bp A - upstream_gene_variant LINC-JP 5 133504471 133504471 single base substitution A C downstream_gene_variant LINC-JP 5 133504471 133504471 single base substitution A C intron_variant LINC-JP 5 133506517 133506517 single base substitution A T downstream_gene_variant LINC-JP 5 133506517 133506517 single base substitution A T intron_variant LIRI-JP 5 133487262 133487262 single base substitution G A 3_prime_UTR_variant LIRI-JP 5 133487672 133487672 single base substitution G T 3_prime_UTR_variant LIRI-JP 5 133488837 133488837 single base substitution T A 3_prime_UTR_variant LIRI-JP 5 133488837 133488837 single base substitution T A downstream_gene_variant LIRI-JP 5 133489637 133489637 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 133489637 133489637 single base substitution T C downstream_gene_variant LIRI-JP 5 133490261 133490261 single base substitution A C 3_prime_UTR_variant LIRI-JP 5 133490261 133490261 single base substitution A C downstream_gene_variant LIRI-JP 5 133490800 133490800 single base substitution A C 3_prime_UTR_variant LIRI-JP 5 133490800 133490800 single base substitution A C downstream_gene_variant LIRI-JP 5 133492062 133492062 single base substitution G T 3_prime_UTR_variant LIRI-JP 5 133492062 133492062 single base substitution G T downstream_gene_variant LIRI-JP 5 133492331 133492331 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 133492331 133492331 single base substitution T C downstream_gene_variant LIRI-JP 5 133492366 133492368 deletion of <=200bp TTT - 3_prime_UTR_variant LIRI-JP 5 133492366 133492368 deletion of <=200bp TTT - downstream_gene_variant LIRI-JP 5 133493976 133493976 single base substitution T G 3_prime_UTR_variant LIRI-JP 5 133493976 133493976 single base substitution T G downstream_gene_variant LIRI-JP 5 133493976 133493976 single base substitution T G exon_variant LIRI-JP 5 133493976 133493976 single base substitution T G intron_variant LIRI-JP 5 133494712 133494712 single base substitution T C downstream_gene_variant LIRI-JP 5 133494712 133494712 single base substitution T C intron_variant LIRI-JP 5 133496745 133496745 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 133496745 133496745 single base substitution T C exon_variant LIRI-JP 5 133496745 133496745 single base substitution T C missense_variant D83G 248A>G LIRI-JP 5 133496933 133496933 single base substitution A C exon_variant LIRI-JP 5 133496933 133496933 single base substitution A C intron_variant LIRI-JP 5 133499315 133499315 single base substitution T C intron_variant LIRI-JP 5 133499315 133499315 single base substitution T C upstream_gene_variant LIRI-JP 5 133502696 133502696 single base substitution A C intron_variant LIRI-JP 5 133506170 133506170 single base substitution A C downstream_gene_variant LIRI-JP 5 133506170 133506170 single base substitution A C intron_variant LIRI-JP 5 133510043 133510043 single base substitution A G intron_variant LIRI-JP 5 133510798 133510798 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 5 133510798 133510798 single base substitution T A intron_variant LIRI-JP 5 133510798 133510798 single base substitution T A upstream_gene_variant LIRI-JP 5 133510889 133510889 single base substitution T C 5_prime_UTR_variant LIRI-JP 5 133510889 133510889 single base substitution T C intron_variant LIRI-JP 5 133510889 133510889 single base substitution T C upstream_gene_variant LIRI-JP 5 133510991 133510991 single base substitution T C 5_prime_UTR_variant LIRI-JP 5 133510991 133510991 single base substitution T C intron_variant LIRI-JP 5 133510991 133510991 single base substitution T C upstream_gene_variant LIRI-JP 5 133511935 133511935 single base substitution A T intron_variant LIRI-JP 5 133511935 133511935 single base substitution A T upstream_gene_variant LIRI-JP 5 133515398 133515398 single base substitution A T upstream_gene_variant LIRI-JP 5 133516808 133516808 single base substitution A C upstream_gene_variant LUSC-KR 5 133481467 133481467 single base substitution G A downstream_gene_variant LUSC-KR 5 133486157 133486157 single base substitution G C 3_prime_UTR_variant LUSC-KR 5 133492963 133492963 single base substitution G A 3_prime_UTR_variant LUSC-KR 5 133492963 133492963 single base substitution G A downstream_gene_variant LUSC-KR 5 133495229 133495229 single base substitution A C downstream_gene_variant LUSC-KR 5 133495229 133495229 single base substitution A C intron_variant LUSC-KR 5 133495764 133495764 single base substitution A C downstream_gene_variant LUSC-KR 5 133495764 133495764 single base substitution A C intron_variant LUSC-KR 5 133496649 133496649 single base substitution T C downstream_gene_variant LUSC-KR 5 133496649 133496649 single base substitution T C intron_variant LUSC-KR 5 133497287 133497287 single base substitution C G exon_variant LUSC-KR 5 133497287 133497287 single base substitution C G intron_variant LUSC-KR 5 133498074 133498074 single base substitution T C intron_variant LUSC-KR 5 133498074 133498074 single base substitution T C upstream_gene_variant LUSC-KR 5 133501260 133501260 single base substitution G A intron_variant LUSC-KR 5 133501260 133501260 single base substitution G A upstream_gene_variant LUSC-KR 5 133502301 133502301 single base substitution T A intron_variant LUSC-KR 5 133502301 133502301 single base substitution T A upstream_gene_variant LUSC-KR 5 133507743 133507743 single base substitution T A downstream_gene_variant LUSC-KR 5 133507743 133507743 single base substitution T A intron_variant LUSC-KR 5 133511633 133511633 single base substitution A C intron_variant LUSC-KR 5 133511633 133511633 single base substitution A C upstream_gene_variant LUSC-KR 5 133513798 133513798 single base substitution G T upstream_gene_variant LUSC-US 5 133496743 133496743 single base substitution C T 3_prime_UTR_variant LUSC-US 5 133496743 133496743 single base substitution C T exon_variant LUSC-US 5 133496743 133496743 single base substitution C T missense_variant D84N 250G>A MALY-DE 5 133480681 133480681 single base substitution A G downstream_gene_variant MALY-DE 5 133491932 133491933 deletion of <=200bp GA - 3_prime_UTR_variant MALY-DE 5 133491932 133491933 deletion of <=200bp GA - downstream_gene_variant MALY-DE 5 133502646 133502646 single base substitution A G intron_variant MALY-DE 5 133512610 133512610 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 5 133512610 133512610 single base substitution A C 5_prime_UTR_variant MALY-DE 5 133512610 133512610 single base substitution A C exon_variant MALY-DE 5 133512610 133512610 single base substitution A C upstream_gene_variant MELA-AU 5 133481549 133481549 single base substitution C T downstream_gene_variant MELA-AU 5 133482100 133482100 single base substitution C T downstream_gene_variant MELA-AU 5 133483388 133483388 single base substitution C T downstream_gene_variant MELA-AU 5 133483736 133483736 single base substitution T C downstream_gene_variant MELA-AU 5 133484756 133484756 single base substitution G A 3_prime_UTR_variant MELA-AU 5 133486505 133486505 single base substitution G A 3_prime_UTR_variant MELA-AU 5 133487017 133487017 single base substitution A C 3_prime_UTR_variant MELA-AU 5 133487202 133487202 single base substitution C T 3_prime_UTR_variant MELA-AU 5 133487465 133487465 single base substitution G A 3_prime_UTR_variant MELA-AU 5 133487803 133487803 single base substitution G A 3_prime_UTR_variant MELA-AU 5 133488676 133488677 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 5 133488676 133488677 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 133489453 133489453 single base substitution G A 3_prime_UTR_variant MELA-AU 5 133489453 133489453 single base substitution G A downstream_gene_variant MELA-AU 5 133489856 133489856 single base substitution G A 3_prime_UTR_variant MELA-AU 5 133489856 133489856 single base substitution G A downstream_gene_variant MELA-AU 5 133489973 133489973 single base substitution A T 3_prime_UTR_variant MELA-AU 5 133489973 133489973 single base substitution A T downstream_gene_variant MELA-AU 5 133491102 133491102 single base substitution T A 3_prime_UTR_variant MELA-AU 5 133491102 133491102 single base substitution T A downstream_gene_variant MELA-AU 5 133491397 133491397 single base substitution G A 3_prime_UTR_variant MELA-AU 5 133491397 133491397 single base substitution G A downstream_gene_variant MELA-AU 5 133492118 133492118 single base substitution G A 3_prime_UTR_variant MELA-AU 5 133492118 133492118 single base substitution G A downstream_gene_variant MELA-AU 5 133492465 133492465 single base substitution G A 3_prime_UTR_variant MELA-AU 5 133492465 133492465 single base substitution G A downstream_gene_variant MELA-AU 5 133494160 133494160 single base substitution C T 3_prime_UTR_variant MELA-AU 5 133494160 133494160 single base substitution C T downstream_gene_variant MELA-AU 5 133494160 133494160 single base substitution C T exon_variant MELA-AU 5 133494160 133494160 single base substitution C T missense_variant E148K 442G>A MELA-AU 5 133495243 133495243 single base substitution T A downstream_gene_variant MELA-AU 5 133495243 133495243 single base substitution T A intron_variant MELA-AU 5 133495302 133495302 single base substitution G A downstream_gene_variant MELA-AU 5 133495302 133495302 single base substitution G A intron_variant MELA-AU 5 133495439 133495439 single base substitution C T downstream_gene_variant MELA-AU 5 133495439 133495439 single base substitution C T intron_variant MELA-AU 5 133495689 133495689 single base substitution G A downstream_gene_variant MELA-AU 5 133495689 133495689 single base substitution G A intron_variant MELA-AU 5 133495915 133495915 single base substitution G A downstream_gene_variant MELA-AU 5 133495915 133495915 single base substitution G A intron_variant MELA-AU 5 133496188 133496188 single base substitution G A downstream_gene_variant MELA-AU 5 133496188 133496188 single base substitution G A intron_variant MELA-AU 5 133496905 133496905 single base substitution G A exon_variant MELA-AU 5 133496905 133496905 single base substitution G A intron_variant MELA-AU 5 133496923 133496924 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 5 133496923 133496924 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 133498080 133498080 single base substitution G A intron_variant MELA-AU 5 133498080 133498080 single base substitution G A upstream_gene_variant MELA-AU 5 133498086 133498086 single base substitution G A intron_variant MELA-AU 5 133498086 133498086 single base substitution G A upstream_gene_variant MELA-AU 5 133498608 133498608 single base substitution G A intron_variant MELA-AU 5 133498608 133498608 single base substitution G A upstream_gene_variant MELA-AU 5 133499736 133499736 single base substitution G A intron_variant MELA-AU 5 133499736 133499736 single base substitution G A upstream_gene_variant MELA-AU 5 133500709 133500709 single base substitution C T intron_variant MELA-AU 5 133500709 133500709 single base substitution C T upstream_gene_variant MELA-AU 5 133500734 133500734 single base substitution G A intron_variant MELA-AU 5 133500734 133500734 single base substitution G A upstream_gene_variant MELA-AU 5 133501440 133501440 single base substitution G A intron_variant MELA-AU 5 133501440 133501440 single base substitution G A upstream_gene_variant MELA-AU 5 133502254 133502254 single base substitution G A intron_variant MELA-AU 5 133502254 133502254 single base substitution G A upstream_gene_variant MELA-AU 5 133502514 133502514 single base substitution G A intron_variant MELA-AU 5 133502514 133502514 single base substitution G A upstream_gene_variant MELA-AU 5 133504731 133504731 single base substitution G A downstream_gene_variant MELA-AU 5 133504731 133504731 single base substitution G A intron_variant MELA-AU 5 133505279 133505279 single base substitution G A downstream_gene_variant MELA-AU 5 133505279 133505279 single base substitution G A intron_variant MELA-AU 5 133506797 133506797 single base substitution T A downstream_gene_variant MELA-AU 5 133506797 133506797 single base substitution T A intron_variant MELA-AU 5 133507001 133507001 single base substitution C T downstream_gene_variant MELA-AU 5 133507001 133507001 single base substitution C T intron_variant MELA-AU 5 133507642 133507642 single base substitution G A downstream_gene_variant MELA-AU 5 133507642 133507642 single base substitution G A intron_variant MELA-AU 5 133508076 133508076 single base substitution A G downstream_gene_variant MELA-AU 5 133508076 133508076 single base substitution A G intron_variant MELA-AU 5 133508332 133508332 single base substitution G A downstream_gene_variant MELA-AU 5 133508332 133508332 single base substitution G A intron_variant MELA-AU 5 133508350 133508350 single base substitution G A downstream_gene_variant MELA-AU 5 133508350 133508350 single base substitution G A intron_variant MELA-AU 5 133508474 133508474 single base substitution C G downstream_gene_variant MELA-AU 5 133508474 133508474 single base substitution C G intron_variant MELA-AU 5 133508628 133508628 single base substitution G A downstream_gene_variant MELA-AU 5 133508628 133508628 single base substitution G A intron_variant MELA-AU 5 133509019 133509019 single base substitution C T downstream_gene_variant MELA-AU 5 133509019 133509019 single base substitution C T intron_variant MELA-AU 5 133509074 133509074 single base substitution C T downstream_gene_variant MELA-AU 5 133509074 133509074 single base substitution C T intron_variant MELA-AU 5 133509245 133509245 single base substitution A G downstream_gene_variant MELA-AU 5 133509245 133509245 single base substitution A G exon_variant MELA-AU 5 133509245 133509245 single base substitution A G intron_variant MELA-AU 5 133510220 133510220 single base substitution G T 5_prime_UTR_variant MELA-AU 5 133510220 133510220 single base substitution G T intron_variant MELA-AU 5 133510437 133510437 single base substitution G A 5_prime_UTR_variant MELA-AU 5 133510437 133510437 single base substitution G A intron_variant MELA-AU 5 133512113 133512113 single base substitution G A intron_variant MELA-AU 5 133512113 133512113 single base substitution G A upstream_gene_variant MELA-AU 5 133512693 133512693 single base substitution G A 5_prime_UTR_variant MELA-AU 5 133512693 133512693 single base substitution G A upstream_gene_variant MELA-AU 5 133512730 133512730 single base substitution G A upstream_gene_variant MELA-AU 5 133513900 133513900 single base substitution G A upstream_gene_variant MELA-AU 5 133513902 133513902 single base substitution A C upstream_gene_variant MELA-AU 5 133514390 133514390 single base substitution G A upstream_gene_variant MELA-AU 5 133514442 133514442 single base substitution A G upstream_gene_variant MELA-AU 5 133514550 133514550 single base substitution G A upstream_gene_variant MELA-AU 5 133515361 133515361 single base substitution G A upstream_gene_variant MELA-AU 5 133515396 133515396 single base substitution G A upstream_gene_variant MELA-AU 5 133515661 133515661 single base substitution A C upstream_gene_variant MELA-AU 5 133516324 133516324 single base substitution C T upstream_gene_variant MELA-AU 5 133516413 133516413 single base substitution G A upstream_gene_variant MELA-AU 5 133516685 133516685 single base substitution C T upstream_gene_variant MELA-AU 5 133516791 133516791 single base substitution G A upstream_gene_variant MELA-AU 5 133516843 133516843 single base substitution G A upstream_gene_variant ORCA-IN 5 133481191 133481191 single base substitution C T downstream_gene_variant ORCA-IN 5 133494200 133494200 single base substitution C T 3_prime_UTR_variant ORCA-IN 5 133494200 133494200 single base substitution C T downstream_gene_variant ORCA-IN 5 133494200 133494200 single base substitution C T exon_variant ORCA-IN 5 133494200 133494200 single base substitution C T synonymous_variant E134E 402G>A ORCA-IN 5 133500852 133500852 single base substitution G C intron_variant ORCA-IN 5 133500852 133500852 single base substitution G C upstream_gene_variant ORCA-IN 5 133505210 133505210 single base substitution C T downstream_gene_variant ORCA-IN 5 133505210 133505210 single base substitution C T intron_variant OV-AU 5 133480297 133480297 single base substitution A G downstream_gene_variant OV-AU 5 133488177 133488177 single base substitution C G 3_prime_UTR_variant OV-AU 5 133488177 133488177 single base substitution C G downstream_gene_variant OV-AU 5 133488318 133488318 single base substitution C T 3_prime_UTR_variant OV-AU 5 133488318 133488318 single base substitution C T downstream_gene_variant OV-AU 5 133500535 133500535 single base substitution G A intron_variant OV-AU 5 133500535 133500535 single base substitution G A upstream_gene_variant OV-AU 5 133502911 133502911 single base substitution C G 3_prime_UTR_variant OV-AU 5 133502911 133502911 single base substitution C G missense_variant D41H 121G>C OV-AU 5 133516482 133516482 single base substitution G C upstream_gene_variant PACA-AU 5 133480264 133480264 single base substitution C T downstream_gene_variant PACA-AU 5 133484109 133484109 single base substitution T A downstream_gene_variant PACA-AU 5 133492282 133492286 deletion of <=200bp AAATC - 3_prime_UTR_variant PACA-AU 5 133492282 133492286 deletion of <=200bp AAATC - downstream_gene_variant PACA-AU 5 133493248 133493248 single base substitution G A 3_prime_UTR_variant PACA-AU 5 133493248 133493248 single base substitution G A downstream_gene_variant PACA-AU 5 133493248 133493248 single base substitution G A exon_variant PACA-AU 5 133493731 133493731 single base substitution T C 3_prime_UTR_variant PACA-AU 5 133493731 133493731 single base substitution T C downstream_gene_variant PACA-AU 5 133493731 133493731 single base substitution T C exon_variant PACA-AU 5 133493731 133493731 single base substitution T C intron_variant PACA-AU 5 133495942 133495942 single base substitution G A downstream_gene_variant PACA-AU 5 133495942 133495942 single base substitution G A intron_variant PACA-AU 5 133501687 133501687 single base substitution C T intron_variant PACA-AU 5 133501687 133501687 single base substitution C T upstream_gene_variant PACA-AU 5 133515886 133515886 single base substitution C T upstream_gene_variant PACA-CA 5 133481052 133481052 single base substitution C A downstream_gene_variant PACA-CA 5 133486596 133486596 single base substitution T C 3_prime_UTR_variant PACA-CA 5 133494048 133494048 deletion of <=200bp A - 3_prime_UTR_variant PACA-CA 5 133494048 133494048 deletion of <=200bp A - downstream_gene_variant PACA-CA 5 133494048 133494048 deletion of <=200bp A - exon_variant PACA-CA 5 133494048 133494048 deletion of <=200bp A - intron_variant PACA-CA 5 133513215 133513215 single base substitution C A upstream_gene_variant PACA-CA 5 133515105 133515105 single base substitution C G upstream_gene_variant PACA-CA 5 133515115 133515115 single base substitution A G upstream_gene_variant PBCA-DE 5 133497187 133497187 single base substitution C T exon_variant PBCA-DE 5 133497187 133497187 single base substitution C T intron_variant PBCA-DE 5 133501928 133501928 single base substitution T A intron_variant PBCA-DE 5 133501928 133501928 single base substitution T A upstream_gene_variant PBCA-DE 5 133512576 133512586 deletion of <=200bp GAGGCTGACGA - 5_prime_UTR_variant PBCA-DE 5 133512576 133512586 deletion of <=200bp GAGGCTGACGA - exon_variant PBCA-DE 5 133512576 133512586 deletion of <=200bp GAGGCTGACGA - upstream_gene_variant PBCA-DE 5 133513037 133513038 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 5 133514824 133514824 single base substitution A G upstream_gene_variant PBCA-DE 5 133515793 133515793 single base substitution G A upstream_gene_variant PBCA-DE 5 133517273 133517273 insertion of <=200bp - A upstream_gene_variant PRAD-CA 5 133492963 133492963 single base substitution G A 3_prime_UTR_variant PRAD-CA 5 133492963 133492963 single base substitution G A downstream_gene_variant PRAD-UK 5 133489929 133489929 single base substitution G C 3_prime_UTR_variant PRAD-UK 5 133489929 133489929 single base substitution G C downstream_gene_variant PRAD-UK 5 133490810 133490810 single base substitution T C 3_prime_UTR_variant PRAD-UK 5 133490810 133490810 single base substitution T C downstream_gene_variant PRAD-UK 5 133503355 133503355 single base substitution T C intron_variant PRAD-UK 5 133510256 133510261 deletion of <=200bp GCAGAT - 5_prime_UTR_variant PRAD-UK 5 133510256 133510261 deletion of <=200bp GCAGAT - intron_variant PRAD-UK 5 133511181 133511181 single base substitution T C 5_prime_UTR_variant PRAD-UK 5 133511181 133511181 single base substitution T C intron_variant PRAD-UK 5 133511181 133511181 single base substitution T C upstream_gene_variant PRAD-UK 5 133514556 133514556 single base substitution C T upstream_gene_variant PRAD-UK 5 133516898 133516898 deletion of <=200bp G - upstream_gene_variant RECA-EU 5 133486156 133486156 single base substitution A G 3_prime_UTR_variant RECA-EU 5 133487214 133487214 single base substitution G A 3_prime_UTR_variant RECA-EU 5 133493761 133493761 single base substitution T C 3_prime_UTR_variant RECA-EU 5 133493761 133493761 single base substitution T C downstream_gene_variant RECA-EU 5 133493761 133493761 single base substitution T C exon_variant RECA-EU 5 133493761 133493761 single base substitution T C intron_variant RECA-EU 5 133494442 133494442 single base substitution G C downstream_gene_variant RECA-EU 5 133494442 133494442 single base substitution G C intron_variant RECA-EU 5 133501597 133501597 single base substitution C A intron_variant RECA-EU 5 133501597 133501597 single base substitution C A upstream_gene_variant RECA-EU 5 133508586 133508586 single base substitution C G downstream_gene_variant RECA-EU 5 133508586 133508586 single base substitution C G intron_variant SKCA-BR 5 133484067 133484067 single base substitution C T downstream_gene_variant SKCA-BR 5 133485514 133485514 single base substitution G T 3_prime_UTR_variant SKCA-BR 5 133490138 133490139 deletion of <=200bp CA - 3_prime_UTR_variant SKCA-BR 5 133490138 133490139 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 5 133491931 133491931 insertion of <=200bp - TGA 3_prime_UTR_variant SKCA-BR 5 133491931 133491931 insertion of <=200bp - TGA downstream_gene_variant SKCA-BR 5 133499803 133499803 single base substitution G A intron_variant SKCA-BR 5 133499803 133499803 single base substitution G A upstream_gene_variant SKCA-BR 5 133499804 133499804 single base substitution G C intron_variant SKCA-BR 5 133499804 133499804 single base substitution G C upstream_gene_variant SKCA-BR 5 133505476 133505476 single base substitution A C downstream_gene_variant SKCA-BR 5 133505476 133505476 single base substitution A C intron_variant SKCA-BR 5 133512157 133512157 single base substitution A C intron_variant SKCA-BR 5 133512157 133512157 single base substitution A C upstream_gene_variant SKCA-BR 5 133513652 133513652 single base substitution G A upstream_gene_variant SKCM-US 5 133496736 133496736 single base substitution G A 3_prime_UTR_variant SKCM-US 5 133496736 133496736 single base substitution G A exon_variant SKCM-US 5 133496736 133496736 single base substitution G A missense_variant P86L 257C>T SKCM-US 5 133509699 133509699 single base substitution C T exon_variant SKCM-US 5 133509699 133509699 single base substitution C T synonymous_variant K5K 15G>A STAD-US 5 133481935 133481935 single base substitution G A downstream_gene_variant STAD-US 5 133481970 133481970 single base substitution G A downstream_gene_variant THCA-SA 5 133482926 133482926 single base substitution G A downstream_gene_variant THCA-SA 5 133483382 133483382 single base substitution C T downstream_gene_variant THCA-SA 5 133492963 133492963 single base substitution G A 3_prime_UTR_variant THCA-SA 5 133492963 133492963 single base substitution G A downstream_gene_variant THCA-SA 5 133512621 133512621 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant THCA-SA 5 133512621 133512621 single base substitution C A exon_variant THCA-SA 5 133512621 133512621 single base substitution C A upstream_gene_variant UCEC-US 5 133480540 133480540 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand RMS1_ COSM4985624 c.469A>G p.N157D Substitution - Missense 5:134157756-134157756 - TCGA-CA-6717-01 COSM1433156 c.406C>T p.R136C Substitution - Missense 5:134158505-134158505 - CSCC-4-T COSM4535622 c.220G>A p.D74N Substitution - Missense 5:134161082-134161082 - 3T COSM3714987 c.402G>A p.E134E Substitution - coding silent 5:134158509-134158509 - ATL017 COSM5709457 c.415T>G p.F139V Substitution - Missense 5:134158496-134158496 - CSCC-38-T COSM4523132 c.119G>A p.G40E Substitution - Missense 5:134167222-134167222 - HCC2998 COSM3137993 c.57A>C p.E19D Substitution - Missense 5:134173966-134173966 - RK184_C01 COSM1633938 c.248A>G p.D83G Substitution - Missense 5:134161054-134161054 - AOCS-164-1-7 COSM4422220 c.121G>C p.D41H Substitution - Missense 5:134167220-134167220 - TCGA-D9-A4Z3-01 COSM3608552 c.257C>T p.P86L Substitution - Missense 5:134161045-134161045 - HN_62995 COSM126187 c.136C>T p.P46S Substitution - Missense 5:134167205-134167205 - 51 COSM5734586 c.40T>C p.F14L Substitution - Missense 5:134173983-134173983 - 93VU147T COSM4590362 c.421A>G p.I141V Substitution - Missense 5:134158490-134158490 - OSCC-GB_00030111 COSM3714987 c.402G>A p.E134E Substitution - coding silent 5:134158509-134158509 - TCGA-EE-A29N-06 COSM3608553 c.15G>A p.K5K Substitution - coding silent 5:134174008-134174008 - TCGA-AO-A03M-01 COSM3826764 c.397G>C p.E133Q Substitution - Missense 5:134158514-134158514 - TCGA-FV-A3R2-01 COSM4929337 c.396T>G p.P132P Substitution - coding silent 5:134158515-134158515 - TCGA-G2-A2EO-01 COSM1310545 c.98-1G>A p.? Unknown 5:134167244-134167244 - TCGA-22-5491-01 COSM735675 c.250G>A p.D84N Substitution - Missense 5:134161052-134161052 - 1016 COSM5730611 c.360C>G p.C120W Substitution - Missense 5:134158551-134158551 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.171626 5q31 601434

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.489+37T>G 5 133493390 ESCA C A Synonymous p.L105L c.315G>T 5 133496678 BRCA C T IntronicSNV . c.172-366G>A 5 133497187 MB C T Missense p.D84N c.250G>A 5 133496743 LUSC C T SpliceAcceptorSNV . c.98-1G>A 5 133502935 BLCA C T Synonymous p.K5K c.15G>A 5 133509699 CM G A IntronicSNV . c.457-52C>T 5 133493511 CM G A Missense p.P46S c.136C>T 5 133502896 HNSC G A Missense p.T29I c.86C>T 5 133509628 CM G C Missense p.L47V c.139C>G 5 133502893 LUAD T C Missense p.K80R c.239A>G 5 133496754 LUAD T C Synonymous p.L47L c.141A>G 5 133502891 STAD