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 12 93803827 93803827 + Missense_Mutation SNP C C T TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 g.chr12:93803827C>T c.447G>A c.(445-447)atG>atA p.M149I BLCA 12 93804976 93804976 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr12:93804976C>T c.130G>A c.(130-132)Gat>Aat p.D44N BLCA 12 93805024 93805024 + Missense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr12:93805024C>T c.82G>A c.(82-84)Gat>Aat p.D28N BLCA 12 93805045 93805045 + Missense_Mutation SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr12:93805045G>A c.61C>T c.(61-63)Cct>Tct p.P21S COAD 12 93804913 93804913 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr12:93804913C>T c.193G>A c.(193-195)Gca>Aca p.A65T COADREAD 12 93804913 93804913 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr12:93804913C>T c.193G>A c.(193-195)Gca>Aca p.A65T ESCA 12 93804925 93804925 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 g.chr12:93804925C>T c.181G>A c.(181-183)Gaa>Aaa p.E61K LIHC 12 93804590 93804590 + Missense_Mutation SNP C C G TCGA-G3-A25Y-01A-11D-A16V-10 TCGA-G3-A25Y-10A-01D-A16V-10 g.chr12:93804590C>G c.338G>C c.(337-339)aGt>aCt p.S113T LIHC 12 93804888 93804888 + Missense_Mutation SNP G G A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr12:93804888G>A c.218C>T c.(217-219)aCc>aTc p.T73I LIHC 12 93835640 93835640 + Missense_Mutation SNP C C A TCGA-EP-A3JL-01A-11D-A20W-10 TCGA-EP-A3JL-10A-01D-A20W-10 g.chr12:93835640C>A c.21G>T c.(19-21)agG>agT p.R7S LIHC 12 93835657 93835657 + Missense_Mutation SNP C C T TCGA-DD-A4NG-01A-11D-A27I-10 TCGA-DD-A4NG-10A-01D-A27I-10 g.chr12:93835657C>T c.4G>A c.(4-6)Gcc>Acc p.A2T LUAD 12 93804897 93804897 + Missense_Mutation SNP C C A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr12:93804897C>A c.209G>T c.(208-210)cGt>cTt p.R70L LUSC 12 93804845 93804845 + Silent SNP A A G TCGA-39-5019-01A-01D-1817-08 TCGA-39-5019-11A-01D-1817-08 g.chr12:93804845A>G c.261T>C c.(259-261)tgT>tgC p.C87C SKCM 12 93804628 93804628 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr12:93804628C>T c.300G>A c.(298-300)caG>caA p.Q100Q SKCM 12 93804643 93804643 + Nonsense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr12:93804643C>T c.285G>A c.(283-285)tgG>tgA p.W95*

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 12 93835632 93835632 single base substitution T A missense_variant K10M 29A>T BLCA-CN 12 93835632 93835632 single base substitution T A splice_region_variant BLCA-CN 12 93835632 93835632 single base substitution T A upstream_gene_variant BLCA-US 12 93803827 93803827 single base substitution C T 3_prime_UTR_variant BLCA-US 12 93803827 93803827 single base substitution C T missense_variant M102I 306G>A BLCA-US 12 93803827 93803827 single base substitution C T missense_variant M149I 447G>A BLCA-US 12 93803827 93803827 single base substitution C T missense_variant M86I 258G>A BLCA-US 12 93803827 93803827 single base substitution C T upstream_gene_variant BLCA-US 12 93804976 93804976 single base substitution C T 5_prime_UTR_variant BLCA-US 12 93804976 93804976 single base substitution C T exon_variant BLCA-US 12 93804976 93804976 single base substitution C T missense_variant D44N 130G>A BLCA-US 12 93804976 93804976 single base substitution C T upstream_gene_variant BOCA-FR 12 93809384 93809384 single base substitution T G intron_variant BRCA-EU 12 93794560 93794560 single base substitution T C downstream_gene_variant BRCA-EU 12 93794621 93794621 single base substitution G A downstream_gene_variant BRCA-EU 12 93795196 93795196 single base substitution C T downstream_gene_variant BRCA-EU 12 93795614 93795614 single base substitution A G downstream_gene_variant BRCA-EU 12 93796320 93796320 single base substitution C A downstream_gene_variant BRCA-EU 12 93796321 93796321 single base substitution C T downstream_gene_variant BRCA-EU 12 93798149 93798149 single base substitution A C downstream_gene_variant BRCA-EU 12 93799703 93799703 single base substitution G A downstream_gene_variant BRCA-EU 12 93799703 93799703 single base substitution G A exon_variant BRCA-EU 12 93803863 93803863 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 93803863 93803863 single base substitution C T intron_variant BRCA-EU 12 93803863 93803863 single base substitution C T upstream_gene_variant BRCA-EU 12 93805159 93805159 single base substitution G C intron_variant BRCA-EU 12 93805159 93805159 single base substitution G C upstream_gene_variant BRCA-EU 12 93805229 93805229 single base substitution T A intron_variant BRCA-EU 12 93805229 93805229 single base substitution T A upstream_gene_variant BRCA-EU 12 93809047 93809049 deletion of <=200bp AAC - intron_variant BRCA-EU 12 93811188 93811188 single base substitution G A intron_variant BRCA-EU 12 93811253 93811253 single base substitution T C intron_variant BRCA-EU 12 93811960 93811960 single base substitution C G intron_variant BRCA-EU 12 93812059 93812059 single base substitution G C intron_variant BRCA-EU 12 93812125 93812125 single base substitution G A intron_variant BRCA-EU 12 93812215 93812215 single base substitution T A intron_variant BRCA-EU 12 93812811 93812811 single base substitution C T intron_variant BRCA-EU 12 93813301 93813301 single base substitution G A intron_variant BRCA-EU 12 93813324 93813349 deletion of <=200bp CTAACTGAATGATGAAGTAAAGAGTT - intron_variant BRCA-EU 12 93815078 93815078 single base substitution C T intron_variant BRCA-EU 12 93815642 93815705 deletion of <=200bp ATGGCATTGTGGTATTAAATAACTGGAAGGAAGAGTAAAACTTCTTGGCATCCAGCAGTTTATT - intron_variant BRCA-EU 12 93818351 93818360 deletion of <=200bp TTGGAGGGTT - intron_variant BRCA-EU 12 93818762 93818762 single base substitution C T intron_variant BRCA-EU 12 93819101 93819101 single base substitution C G intron_variant BRCA-EU 12 93820659 93820659 single base substitution T A intron_variant BRCA-EU 12 93823419 93823419 single base substitution A C intron_variant BRCA-EU 12 93825025 93825025 single base substitution C G intron_variant BRCA-EU 12 93826301 93826301 single base substitution G A intron_variant BRCA-EU 12 93829323 93829323 single base substitution A G intron_variant BRCA-EU 12 93830534 93830534 single base substitution G C intron_variant BRCA-EU 12 93831884 93831884 single base substitution T A intron_variant BRCA-EU 12 93832308 93832308 single base substitution A T intron_variant BRCA-EU 12 93832354 93832354 deletion of <=200bp G - intron_variant BRCA-EU 12 93834815 93834817 deletion of <=200bp GAG - intron_variant BRCA-EU 12 93834883 93834883 single base substitution C T intron_variant BRCA-EU 12 93836365 93836365 single base substitution G T upstream_gene_variant BRCA-EU 12 93837180 93837180 single base substitution A G upstream_gene_variant BRCA-EU 12 93837398 93837398 single base substitution G A upstream_gene_variant BRCA-EU 12 93838139 93838139 single base substitution G A upstream_gene_variant BRCA-EU 12 93838225 93838225 single base substitution A G upstream_gene_variant BRCA-EU 12 93839536 93839536 single base substitution T C upstream_gene_variant BRCA-EU 12 93840341 93840341 single base substitution C G upstream_gene_variant BRCA-FR 12 93816166 93816166 single base substitution C G intron_variant BRCA-FR 12 93819101 93819101 single base substitution C G intron_variant BRCA-FR 12 93836365 93836365 single base substitution G T upstream_gene_variant BRCA-FR 12 93838139 93838139 single base substitution G A upstream_gene_variant BRCA-UK 12 93812215 93812215 single base substitution T A intron_variant BRCA-UK 12 93831614 93831614 single base substitution G A intron_variant BRCA-UK 12 93836791 93836791 single base substitution G A upstream_gene_variant BTCA-JP 12 93823119 93823119 single base substitution T A intron_variant CLLE-ES 12 93803703 93803703 single base substitution T C 3_prime_UTR_variant CLLE-ES 12 93803703 93803703 single base substitution T C upstream_gene_variant CLLE-ES 12 93804998 93804998 single base substitution A G 5_prime_UTR_variant CLLE-ES 12 93804998 93804998 single base substitution A G exon_variant CLLE-ES 12 93804998 93804998 single base substitution A G synonymous_variant H36H 108T>C CLLE-ES 12 93804998 93804998 single base substitution A G upstream_gene_variant COAD-US 12 93804913 93804913 single base substitution C T exon_variant COAD-US 12 93804913 93804913 single base substitution C T missense_variant A2T 4G>A COAD-US 12 93804913 93804913 single base substitution C T missense_variant A65T 193G>A COAD-US 12 93804913 93804913 single base substitution C T upstream_gene_variant COCA-CN 12 93794479 93794479 single base substitution G A downstream_gene_variant COCA-CN 12 93794530 93794530 single base substitution C A downstream_gene_variant COCA-CN 12 93804790 93804790 single base substitution A C intron_variant COCA-CN 12 93804790 93804790 single base substitution A C missense_variant F106V 316T>G COCA-CN 12 93804790 93804790 single base substitution A C upstream_gene_variant COCA-CN 12 93805271 93805271 single base substitution G A intron_variant COCA-CN 12 93805271 93805271 single base substitution G A upstream_gene_variant COCA-CN 12 93823190 93823190 single base substitution T G intron_variant ESAD-UK 12 93799023 93799023 deletion of <=200bp T - downstream_gene_variant ESAD-UK 12 93799985 93799985 single base substitution A G downstream_gene_variant ESAD-UK 12 93799985 93799985 single base substitution A G intron_variant ESAD-UK 12 93800432 93800432 single base substitution C T downstream_gene_variant ESAD-UK 12 93800432 93800432 single base substitution C T intron_variant ESAD-UK 12 93800905 93800905 single base substitution T C downstream_gene_variant ESAD-UK 12 93800905 93800905 single base substitution T C intron_variant ESAD-UK 12 93804551 93804551 single base substitution G C 3_prime_UTR_variant ESAD-UK 12 93804551 93804551 single base substitution G C intron_variant ESAD-UK 12 93804551 93804551 single base substitution G C missense_variant A126G 377C>G ESAD-UK 12 93804551 93804551 single base substitution G C missense_variant A63G 188C>G ESAD-UK 12 93804551 93804551 single base substitution G C upstream_gene_variant ESAD-UK 12 93805817 93805817 single base substitution C T intron_variant ESAD-UK 12 93805817 93805817 single base substitution C T upstream_gene_variant ESAD-UK 12 93806788 93806788 single base substitution C A intron_variant ESAD-UK 12 93807937 93807937 deletion of <=200bp A - intron_variant ESAD-UK 12 93808267 93808267 single base substitution G C intron_variant ESAD-UK 12 93808273 93808273 single base substitution A C intron_variant ESAD-UK 12 93808408 93808408 single base substitution C A intron_variant ESAD-UK 12 93815166 93815166 single base substitution G A intron_variant ESAD-UK 12 93815169 93815169 single base substitution G A intron_variant ESAD-UK 12 93816438 93816438 single base substitution C A intron_variant ESAD-UK 12 93817773 93817773 single base substitution C G intron_variant ESAD-UK 12 93817938 93817938 single base substitution A G intron_variant ESAD-UK 12 93819416 93819416 single base substitution G A intron_variant ESAD-UK 12 93820916 93820916 single base substitution G A intron_variant ESAD-UK 12 93821055 93821055 single base substitution C G intron_variant ESAD-UK 12 93824000 93824000 single base substitution C T intron_variant ESAD-UK 12 93824352 93824352 single base substitution A C intron_variant ESAD-UK 12 93827018 93827018 single base substitution A T intron_variant ESAD-UK 12 93830726 93830726 single base substitution T C intron_variant ESAD-UK 12 93831491 93831491 single base substitution G A intron_variant ESAD-UK 12 93831565 93831565 insertion of <=200bp - AACA intron_variant ESAD-UK 12 93833728 93833728 single base substitution A G intron_variant ESAD-UK 12 93834088 93834088 single base substitution A G intron_variant ESAD-UK 12 93834828 93834831 deletion of <=200bp GAGA - intron_variant ESAD-UK 12 93837950 93837950 single base substitution G A upstream_gene_variant ESAD-UK 12 93840543 93840543 single base substitution T A upstream_gene_variant ESAD-UK 12 93840821 93840821 single base substitution G A upstream_gene_variant ESCA-CN 12 93803846 93803846 single base substitution C T 3_prime_UTR_variant ESCA-CN 12 93803846 93803846 single base substitution C T stop_gained W143* 428G>A ESCA-CN 12 93803846 93803846 single base substitution C T stop_gained W80* 239G>A ESCA-CN 12 93803846 93803846 single base substitution C T stop_gained W96* 287G>A ESCA-CN 12 93803846 93803846 single base substitution C T upstream_gene_variant ESCA-CN 12 93803967 93803967 single base substitution C A 3_prime_UTR_variant ESCA-CN 12 93803967 93803967 single base substitution C A intron_variant ESCA-CN 12 93803967 93803967 single base substitution C A upstream_gene_variant ESCA-CN 12 93804395 93804395 single base substitution C G 3_prime_UTR_variant ESCA-CN 12 93804395 93804395 single base substitution C G intron_variant ESCA-CN 12 93804395 93804395 single base substitution C G upstream_gene_variant ESCA-CN 12 93804425 93804425 single base substitution C T 3_prime_UTR_variant ESCA-CN 12 93804425 93804425 single base substitution C T intron_variant ESCA-CN 12 93804425 93804425 single base substitution C T upstream_gene_variant ESCA-CN 12 93835643 93835643 single base substitution G A exon_variant ESCA-CN 12 93835643 93835643 single base substitution G A synonymous_variant R6R 18C>T ESCA-CN 12 93835643 93835643 single base substitution G A upstream_gene_variant KIRC-US 12 93804524 93804532 deletion of <=200bp TGGGCTTCG - 3_prime_UTR_variant KIRC-US 12 93804524 93804532 deletion of <=200bp TGGGCTTCG - disruptive_inframe_deletion NEAQ132K KIRC-US 12 93804524 93804532 deletion of <=200bp TGGGCTTCG - disruptive_inframe_deletion NEAQ69K KIRC-US 12 93804524 93804532 deletion of <=200bp TGGGCTTCG - intron_variant KIRC-US 12 93804524 93804532 deletion of <=200bp TGGGCTTCG - upstream_gene_variant KIRP-US 12 93804921 93804921 single base substitution T A 5_prime_UTR_variant KIRP-US 12 93804921 93804921 single base substitution T A exon_variant KIRP-US 12 93804921 93804921 single base substitution T A missense_variant Y62F 185A>T KIRP-US 12 93804921 93804921 single base substitution T A upstream_gene_variant LICA-FR 12 93795001 93795001 single base substitution T G downstream_gene_variant LICA-FR 12 93795826 93795826 single base substitution G A downstream_gene_variant LICA-FR 12 93803020 93803053 deletion of <=200bp TGTCAGATGGTGAAGACCAAGAAAGAATGTTCCA - 3_prime_UTR_variant LICA-FR 12 93803020 93803053 deletion of <=200bp TGTCAGATGGTGAAGACCAAGAAAGAATGTTCCA - downstream_gene_variant LICA-FR 12 93803020 93803053 deletion of <=200bp TGTCAGATGGTGAAGACCAAGAAAGAATGTTCCA - upstream_gene_variant LICA-FR 12 93804509 93804509 single base substitution C A 3_prime_UTR_variant LICA-FR 12 93804509 93804509 single base substitution C A intron_variant LICA-FR 12 93804509 93804509 single base substitution C A splice_donor_variant LICA-FR 12 93804509 93804509 single base substitution C A upstream_gene_variant LICA-FR 12 93820167 93820168 deletion of <=200bp AA - intron_variant LIHC-US 12 93804590 93804590 single base substitution C G 3_prime_UTR_variant LIHC-US 12 93804590 93804590 single base substitution C G intron_variant LIHC-US 12 93804590 93804590 single base substitution C G missense_variant S113T 338G>C LIHC-US 12 93804590 93804590 single base substitution C G missense_variant S50T 149G>C LIHC-US 12 93804590 93804590 single base substitution C G upstream_gene_variant LIHC-US 12 93804888 93804888 single base substitution G A intron_variant LIHC-US 12 93804888 93804888 single base substitution G A missense_variant T10I 29C>T LIHC-US 12 93804888 93804888 single base substitution G A missense_variant T73I 218C>T LIHC-US 12 93804888 93804888 single base substitution G A upstream_gene_variant LIHC-US 12 93835640 93835640 single base substitution C A exon_variant LIHC-US 12 93835640 93835640 single base substitution C A missense_variant R7S 21G>T LIHC-US 12 93835640 93835640 single base substitution C A upstream_gene_variant LIHC-US 12 93835657 93835657 single base substitution C T exon_variant LIHC-US 12 93835657 93835657 single base substitution C T missense_variant A2T 4G>A LIHC-US 12 93835657 93835657 single base substitution C T upstream_gene_variant LINC-JP 12 93796405 93796405 single base substitution T A downstream_gene_variant LINC-JP 12 93804913 93804913 single base substitution C G exon_variant LINC-JP 12 93804913 93804913 single base substitution C G missense_variant A2P 4G>C LINC-JP 12 93804913 93804913 single base substitution C G missense_variant A65P 193G>C LINC-JP 12 93804913 93804913 single base substitution C G upstream_gene_variant LINC-JP 12 93812255 93812255 single base substitution T C intron_variant LINC-JP 12 93817817 93817817 single base substitution C A intron_variant LINC-JP 12 93821153 93821153 single base substitution A T intron_variant LINC-JP 12 93823355 93823355 single base substitution A G intron_variant LINC-JP 12 93833649 93833649 single base substitution T C intron_variant LIRI-JP 12 93796143 93796143 single base substitution T C downstream_gene_variant LIRI-JP 12 93796206 93796206 single base substitution G T downstream_gene_variant LIRI-JP 12 93797460 93797460 single base substitution A T downstream_gene_variant LIRI-JP 12 93799135 93799135 single base substitution G A downstream_gene_variant LIRI-JP 12 93799976 93799976 single base substitution A G downstream_gene_variant LIRI-JP 12 93799976 93799976 single base substitution A G intron_variant LIRI-JP 12 93800780 93800780 single base substitution C A downstream_gene_variant LIRI-JP 12 93800780 93800780 single base substitution C A intron_variant LIRI-JP 12 93801912 93801912 single base substitution C A 3_prime_UTR_variant LIRI-JP 12 93801912 93801912 single base substitution C A downstream_gene_variant LIRI-JP 12 93801912 93801912 single base substitution C A upstream_gene_variant LIRI-JP 12 93802006 93802009 deletion of <=200bp ATAA - 3_prime_UTR_variant LIRI-JP 12 93802006 93802009 deletion of <=200bp ATAA - downstream_gene_variant LIRI-JP 12 93802006 93802009 deletion of <=200bp ATAA - upstream_gene_variant LIRI-JP 12 93814681 93814681 single base substitution C T intron_variant LIRI-JP 12 93816447 93816447 single base substitution T A intron_variant LIRI-JP 12 93825249 93825249 single base substitution C G intron_variant LIRI-JP 12 93828491 93828491 single base substitution C T intron_variant LIRI-JP 12 93829862 93829862 single base substitution T A intron_variant LIRI-JP 12 93829881 93829881 single base substitution C T intron_variant LIRI-JP 12 93830545 93830545 single base substitution T C intron_variant LIRI-JP 12 93831039 93831039 single base substitution T C intron_variant LIRI-JP 12 93840234 93840234 single base substitution A G upstream_gene_variant LIRI-JP 12 93840538 93840538 single base substitution A G upstream_gene_variant LIRI-JP 12 93840827 93840827 single base substitution A G upstream_gene_variant LUSC-KR 12 93795420 93795420 single base substitution A G downstream_gene_variant LUSC-KR 12 93798466 93798466 single base substitution A T downstream_gene_variant LUSC-KR 12 93807768 93807768 single base substitution T C intron_variant LUSC-KR 12 93807980 93807980 single base substitution T C intron_variant LUSC-KR 12 93808505 93808505 single base substitution C A intron_variant LUSC-KR 12 93815779 93815779 single base substitution C A intron_variant LUSC-KR 12 93820624 93820624 single base substitution C A intron_variant LUSC-KR 12 93827793 93827793 single base substitution C G intron_variant LUSC-KR 12 93827851 93827851 single base substitution G A intron_variant LUSC-KR 12 93828921 93828921 single base substitution G A intron_variant LUSC-KR 12 93831295 93831295 single base substitution G C intron_variant LUSC-KR 12 93835954 93835954 single base substitution G C 5_prime_UTR_variant LUSC-KR 12 93835954 93835954 single base substitution G C upstream_gene_variant LUSC-KR 12 93836828 93836828 single base substitution G T upstream_gene_variant LUSC-KR 12 93837465 93837465 single base substitution G T upstream_gene_variant LUSC-KR 12 93838464 93838464 single base substitution G T upstream_gene_variant LUSC-KR 12 93839432 93839432 single base substitution G T upstream_gene_variant LUSC-US 12 93804845 93804845 single base substitution A G intron_variant LUSC-US 12 93804845 93804845 single base substitution A G synonymous_variant C24C 72T>C LUSC-US 12 93804845 93804845 single base substitution A G synonymous_variant C87C 261T>C LUSC-US 12 93804845 93804845 single base substitution A G upstream_gene_variant MALY-DE 12 93797496 93797496 insertion of <=200bp - A downstream_gene_variant MALY-DE 12 93798696 93798696 single base substitution T A downstream_gene_variant MALY-DE 12 93800021 93800021 single base substitution A T downstream_gene_variant MALY-DE 12 93800021 93800021 single base substitution A T intron_variant MALY-DE 12 93800023 93800023 single base substitution T C downstream_gene_variant MALY-DE 12 93800023 93800023 single base substitution T C intron_variant MALY-DE 12 93804407 93804407 single base substitution T C 3_prime_UTR_variant MALY-DE 12 93804407 93804407 single base substitution T C intron_variant MALY-DE 12 93804407 93804407 single base substitution T C upstream_gene_variant MALY-DE 12 93819358 93819358 single base substitution G T intron_variant MALY-DE 12 93820328 93820328 single base substitution A T intron_variant MALY-DE 12 93825082 93825082 single base substitution A G intron_variant MALY-DE 12 93830586 93830586 insertion of <=200bp - A intron_variant MALY-DE 12 93830673 93830673 single base substitution C T intron_variant MALY-DE 12 93832525 93832525 insertion of <=200bp - G intron_variant MALY-DE 12 93833466 93833466 single base substitution A C intron_variant MALY-DE 12 93838181 93838181 single base substitution G A upstream_gene_variant MALY-DE 12 93838197 93838197 single base substitution T C upstream_gene_variant MELA-AU 12 93794640 93794640 single base substitution C T downstream_gene_variant MELA-AU 12 93794689 93794689 single base substitution C T downstream_gene_variant MELA-AU 12 93796170 93796170 single base substitution G A downstream_gene_variant MELA-AU 12 93799027 93799027 single base substitution G A downstream_gene_variant MELA-AU 12 93800088 93800088 single base substitution T G downstream_gene_variant MELA-AU 12 93800088 93800088 single base substitution T G intron_variant MELA-AU 12 93800761 93800762 deletion of <=200bp CT - downstream_gene_variant MELA-AU 12 93800761 93800762 deletion of <=200bp CT - intron_variant MELA-AU 12 93801962 93801962 single base substitution T C 3_prime_UTR_variant MELA-AU 12 93801962 93801962 single base substitution T C downstream_gene_variant MELA-AU 12 93801962 93801962 single base substitution T C upstream_gene_variant MELA-AU 12 93803347 93803347 single base substitution G A 3_prime_UTR_variant MELA-AU 12 93803347 93803347 single base substitution G A downstream_gene_variant MELA-AU 12 93803347 93803347 single base substitution G A upstream_gene_variant MELA-AU 12 93805009 93805009 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 93805009 93805009 single base substitution G A exon_variant MELA-AU 12 93805009 93805009 single base substitution G A missense_variant R33C 97C>T MELA-AU 12 93805009 93805009 single base substitution G A upstream_gene_variant MELA-AU 12 93805013 93805013 insertion of <=200bp - GCAAA 5_prime_UTR_variant MELA-AU 12 93805013 93805013 insertion of <=200bp - GCAAA exon_variant MELA-AU 12 93805013 93805013 insertion of <=200bp - GCAAA frameshift_variant N31NF? MELA-AU 12 93805013 93805013 insertion of <=200bp - GCAAA upstream_gene_variant MELA-AU 12 93805070 93805070 single base substitution G A 5_prime_UTR_variant MELA-AU 12 93805070 93805070 single base substitution G A exon_variant MELA-AU 12 93805070 93805070 single base substitution G A synonymous_variant T12T 36C>T MELA-AU 12 93805070 93805070 single base substitution G A upstream_gene_variant MELA-AU 12 93805525 93805526 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 12 93805525 93805526 multiple base substitution (>=2bp and <=200bp) GT AA upstream_gene_variant MELA-AU 12 93806340 93806340 single base substitution G A intron_variant MELA-AU 12 93807037 93807037 single base substitution T G intron_variant MELA-AU 12 93807133 93807133 single base substitution G A intron_variant MELA-AU 12 93807494 93807494 single base substitution G A intron_variant MELA-AU 12 93807713 93807713 single base substitution G A intron_variant MELA-AU 12 93807860 93807861 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 93809622 93809622 single base substitution G A intron_variant MELA-AU 12 93810093 93810093 single base substitution G A intron_variant MELA-AU 12 93811192 93811192 single base substitution G A intron_variant MELA-AU 12 93812935 93812935 single base substitution G A intron_variant MELA-AU 12 93813953 93813953 single base substitution G A intron_variant MELA-AU 12 93814140 93814140 single base substitution G A intron_variant MELA-AU 12 93814347 93814347 single base substitution G A intron_variant MELA-AU 12 93814746 93814746 single base substitution G A intron_variant MELA-AU 12 93815170 93815170 single base substitution G A intron_variant MELA-AU 12 93815925 93815925 single base substitution T C intron_variant MELA-AU 12 93816214 93816214 single base substitution G A intron_variant MELA-AU 12 93817101 93817101 single base substitution C T intron_variant MELA-AU 12 93818746 93818746 single base substitution G A intron_variant MELA-AU 12 93819151 93819151 single base substitution T C intron_variant MELA-AU 12 93819723 93819723 single base substitution T C intron_variant MELA-AU 12 93820015 93820015 single base substitution G A intron_variant MELA-AU 12 93820591 93820591 single base substitution G A intron_variant MELA-AU 12 93820740 93820740 single base substitution G A intron_variant MELA-AU 12 93821325 93821325 single base substitution G A intron_variant MELA-AU 12 93821748 93821748 single base substitution G C intron_variant MELA-AU 12 93822000 93822000 single base substitution G A intron_variant MELA-AU 12 93822614 93822614 single base substitution G A intron_variant MELA-AU 12 93822731 93822731 single base substitution G A intron_variant MELA-AU 12 93822810 93822811 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 93822889 93822889 single base substitution T C intron_variant MELA-AU 12 93823029 93823029 single base substitution G A intron_variant MELA-AU 12 93823377 93823377 single base substitution G A intron_variant MELA-AU 12 93824175 93824175 single base substitution T C intron_variant MELA-AU 12 93824406 93824406 single base substitution G A intron_variant MELA-AU 12 93824509 93824509 single base substitution G A intron_variant MELA-AU 12 93824596 93824596 single base substitution T A intron_variant MELA-AU 12 93824915 93824915 single base substitution A G intron_variant MELA-AU 12 93825045 93825045 single base substitution C T intron_variant MELA-AU 12 93825935 93825935 single base substitution G A intron_variant MELA-AU 12 93827441 93827441 single base substitution G A intron_variant MELA-AU 12 93827694 93827694 single base substitution G A intron_variant MELA-AU 12 93828699 93828699 single base substitution A G intron_variant MELA-AU 12 93828761 93828761 single base substitution A G intron_variant MELA-AU 12 93829390 93829390 single base substitution A G intron_variant MELA-AU 12 93830036 93830036 single base substitution T C intron_variant MELA-AU 12 93830155 93830155 single base substitution T C intron_variant MELA-AU 12 93830592 93830592 single base substitution G A intron_variant MELA-AU 12 93832981 93832981 single base substitution G T intron_variant MELA-AU 12 93834334 93834334 single base substitution A T intron_variant MELA-AU 12 93834862 93834907 deletion of <=200bp TCCCCCAGCCTTGTGTTAAAACTATTTCCTCGGAACAGCTCTGAAA - intron_variant MELA-AU 12 93835541 93835541 single base substitution G C intron_variant MELA-AU 12 93835541 93835541 single base substitution G C upstream_gene_variant MELA-AU 12 93835639 93835639 single base substitution T C exon_variant MELA-AU 12 93835639 93835639 single base substitution T C missense_variant I8V 22A>G MELA-AU 12 93835639 93835639 single base substitution T C upstream_gene_variant MELA-AU 12 93835744 93835744 single base substitution C T 5_prime_UTR_variant MELA-AU 12 93835744 93835744 single base substitution C T upstream_gene_variant MELA-AU 12 93835843 93835843 single base substitution C T 5_prime_UTR_variant MELA-AU 12 93835843 93835843 single base substitution C T upstream_gene_variant MELA-AU 12 93836117 93836117 single base substitution T G upstream_gene_variant MELA-AU 12 93837334 93837334 single base substitution G A upstream_gene_variant MELA-AU 12 93838570 93838570 single base substitution G A upstream_gene_variant MELA-AU 12 93840636 93840636 single base substitution G T upstream_gene_variant MELA-AU 12 93840784 93840784 single base substitution C T upstream_gene_variant ORCA-IN 12 93816181 93816182 deletion of <=200bp AG - intron_variant ORCA-IN 12 93839316 93839316 single base substitution G A upstream_gene_variant OV-AU 12 93798584 93798584 single base substitution T C downstream_gene_variant OV-AU 12 93799447 93799447 single base substitution A G downstream_gene_variant OV-AU 12 93811257 93811257 single base substitution C T intron_variant OV-AU 12 93816604 93816604 single base substitution T C intron_variant OV-AU 12 93835733 93835733 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant OV-AU 12 93835733 93835733 single base substitution G A upstream_gene_variant PACA-AU 12 93803807 93803807 single base substitution G A 3_prime_UTR_variant PACA-AU 12 93803807 93803807 single base substitution G A upstream_gene_variant PACA-AU 12 93804908 93804908 single base substitution G T exon_variant PACA-AU 12 93804908 93804908 single base substitution G T synonymous_variant A3A 9C>A PACA-AU 12 93804908 93804908 single base substitution G T synonymous_variant A66A 198C>A PACA-AU 12 93804908 93804908 single base substitution G T upstream_gene_variant PACA-AU 12 93805222 93805222 deletion of <=200bp A - intron_variant PACA-AU 12 93805222 93805222 deletion of <=200bp A - upstream_gene_variant PACA-AU 12 93810431 93810431 single base substitution C T intron_variant PACA-AU 12 93816401 93816401 single base substitution T G intron_variant PACA-AU 12 93817684 93817684 single base substitution C G intron_variant PACA-AU 12 93817773 93817773 single base substitution C T intron_variant PACA-AU 12 93817794 93817794 single base substitution C A intron_variant PACA-AU 12 93817821 93817821 single base substitution C G intron_variant PACA-AU 12 93817908 93817908 single base substitution C T intron_variant PACA-AU 12 93817952 93817952 single base substitution C T intron_variant PACA-AU 12 93817993 93817993 single base substitution C T intron_variant PACA-AU 12 93818047 93818047 single base substitution C G intron_variant PACA-AU 12 93818047 93818047 single base substitution C G splice_region_variant PACA-AU 12 93818078 93818078 single base substitution C G 5_prime_UTR_variant PACA-AU 12 93818078 93818078 single base substitution C G intron_variant PACA-AU 12 93818226 93818226 single base substitution C T intron_variant PACA-AU 12 93818620 93818620 single base substitution C T intron_variant PACA-AU 12 93818781 93818781 single base substitution C A intron_variant PACA-AU 12 93818812 93818812 single base substitution C G intron_variant PACA-AU 12 93818823 93818823 single base substitution C T intron_variant PACA-AU 12 93818879 93818879 single base substitution C G intron_variant PACA-AU 12 93818951 93818951 single base substitution C T intron_variant PACA-AU 12 93819013 93819013 single base substitution C T intron_variant PACA-AU 12 93819050 93819050 single base substitution C T intron_variant PACA-AU 12 93819061 93819061 single base substitution A C intron_variant PACA-AU 12 93819064 93819064 single base substitution C T intron_variant PACA-AU 12 93819246 93819246 single base substitution C G intron_variant PACA-AU 12 93819274 93819274 single base substitution C T intron_variant PACA-AU 12 93819353 93819353 single base substitution C T intron_variant PACA-AU 12 93819359 93819359 single base substitution C T intron_variant PACA-AU 12 93819625 93819625 single base substitution C G intron_variant PACA-AU 12 93819637 93819637 single base substitution C T intron_variant PACA-AU 12 93820435 93820435 deletion of <=200bp C - intron_variant PACA-AU 12 93823196 93823196 single base substitution G A intron_variant PACA-AU 12 93835725 93835725 single base substitution G T 5_prime_UTR_variant PACA-AU 12 93835725 93835725 single base substitution G T upstream_gene_variant PACA-CA 12 93794648 93794648 single base substitution G A downstream_gene_variant PACA-CA 12 93794689 93794689 single base substitution C T downstream_gene_variant PACA-CA 12 93797866 93797866 single base substitution A C downstream_gene_variant PACA-CA 12 93802935 93802940 deletion of <=200bp TATAAA - 3_prime_UTR_variant PACA-CA 12 93802935 93802940 deletion of <=200bp TATAAA - downstream_gene_variant PACA-CA 12 93802935 93802940 deletion of <=200bp TATAAA - upstream_gene_variant PACA-CA 12 93804636 93804636 single base substitution C T 3_prime_UTR_variant PACA-CA 12 93804636 93804636 single base substitution C T exon_variant PACA-CA 12 93804636 93804636 single base substitution C T intron_variant PACA-CA 12 93804636 93804636 single base substitution C T missense_variant A35T 103G>A PACA-CA 12 93804636 93804636 single base substitution C T missense_variant A98T 292G>A PACA-CA 12 93804636 93804636 single base substitution C T upstream_gene_variant PACA-CA 12 93805994 93805996 deletion of <=200bp TAT - intron_variant PACA-CA 12 93805994 93805996 deletion of <=200bp TAT - upstream_gene_variant PACA-CA 12 93813609 93813609 single base substitution T C intron_variant PACA-CA 12 93814982 93814982 single base substitution T G intron_variant PACA-CA 12 93817915 93817915 single base substitution G A intron_variant PACA-CA 12 93821770 93821770 single base substitution C T intron_variant PACA-CA 12 93823639 93823639 single base substitution A T intron_variant PACA-CA 12 93827895 93827895 single base substitution G A intron_variant PACA-CA 12 93829499 93829499 single base substitution A T intron_variant PACA-CA 12 93836983 93836983 single base substitution T G upstream_gene_variant PACA-CA 12 93839011 93839011 single base substitution C T upstream_gene_variant PACA-CA 12 93840758 93840758 single base substitution T C upstream_gene_variant PAEN-IT 12 93830548 93830548 single base substitution T G intron_variant PBCA-DE 12 93796155 93796155 single base substitution G T downstream_gene_variant PBCA-DE 12 93799371 93799371 single base substitution A T downstream_gene_variant PBCA-DE 12 93806184 93806184 single base substitution C T intron_variant PBCA-DE 12 93824155 93824155 single base substitution C T intron_variant PBCA-DE 12 93824863 93824863 single base substitution T C intron_variant PBCA-DE 12 93824887 93824887 single base substitution C T intron_variant PBCA-DE 12 93824896 93824896 single base substitution G A intron_variant PBCA-DE 12 93824898 93824898 single base substitution A G intron_variant PBCA-DE 12 93824917 93824917 single base substitution C T intron_variant PBCA-DE 12 93825736 93825736 single base substitution G A intron_variant PBCA-DE 12 93831118 93831118 single base substitution A T intron_variant PBCA-DE 12 93836303 93836303 single base substitution A G upstream_gene_variant PRAD-CA 12 93835298 93835298 single base substitution C A intron_variant PRAD-CA 12 93835298 93835298 single base substitution C A upstream_gene_variant PRAD-UK 12 93803448 93803452 deletion of <=200bp AAAAT - 3_prime_UTR_variant PRAD-UK 12 93803448 93803452 deletion of <=200bp AAAAT - downstream_gene_variant PRAD-UK 12 93803448 93803452 deletion of <=200bp AAAAT - upstream_gene_variant PRAD-UK 12 93804823 93804826 deletion of <=200bp ACTT - frameshift_variant KC94 PRAD-UK 12 93804823 93804826 deletion of <=200bp ACTT - intron_variant PRAD-UK 12 93804823 93804826 deletion of <=200bp ACTT - splice_region_variant PRAD-UK 12 93804823 93804826 deletion of <=200bp ACTT - upstream_gene_variant PRAD-UK 12 93806316 93806316 single base substitution C T intron_variant PRAD-UK 12 93807769 93807769 single base substitution C G intron_variant PRAD-UK 12 93811240 93811240 single base substitution A C intron_variant PRAD-UK 12 93827246 93827246 single base substitution T C intron_variant PRAD-UK 12 93828495 93828495 insertion of <=200bp - A intron_variant PRAD-UK 12 93835292 93835292 deletion of <=200bp T - intron_variant PRAD-UK 12 93835292 93835292 deletion of <=200bp T - upstream_gene_variant PRAD-UK 12 93841016 93841016 single base substitution C T upstream_gene_variant RECA-EU 12 93830126 93830126 single base substitution C T intron_variant RECA-EU 12 93836694 93836694 single base substitution T A upstream_gene_variant SKCA-BR 12 93794479 93794479 single base substitution G A downstream_gene_variant SKCA-BR 12 93794530 93794530 single base substitution C A downstream_gene_variant SKCA-BR 12 93795001 93795001 single base substitution T G downstream_gene_variant SKCA-BR 12 93795414 93795414 single base substitution G T downstream_gene_variant SKCA-BR 12 93797175 93797175 single base substitution A C downstream_gene_variant SKCA-BR 12 93806103 93806103 single base substitution A C intron_variant SKCA-BR 12 93806505 93806505 single base substitution T G intron_variant SKCA-BR 12 93807934 93807934 single base substitution C T intron_variant SKCA-BR 12 93807938 93807938 single base substitution A C intron_variant SKCA-BR 12 93808224 93808229 deletion of <=200bp CAAAAA - intron_variant SKCA-BR 12 93809967 93809967 single base substitution G T intron_variant SKCA-BR 12 93810513 93810513 single base substitution G A intron_variant SKCA-BR 12 93814992 93814992 single base substitution T G intron_variant SKCA-BR 12 93815221 93815221 single base substitution G T intron_variant SKCA-BR 12 93820166 93820167 deletion of <=200bp CA - intron_variant SKCA-BR 12 93826684 93826684 single base substitution G A intron_variant SKCA-BR 12 93826709 93826709 insertion of <=200bp - GTTTT intron_variant SKCA-BR 12 93829546 93829546 single base substitution A T intron_variant SKCA-BR 12 93836217 93836217 insertion of <=200bp - TCCTTCCTCAAAGGGAGGGCAAGACC upstream_gene_variant SKCA-BR 12 93836620 93836620 single base substitution T A upstream_gene_variant SKCA-BR 12 93836666 93836666 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 12 93837292 93837292 single base substitution C T upstream_gene_variant SKCA-BR 12 93839743 93839743 single base substitution C T upstream_gene_variant SKCM-US 12 93804628 93804628 single base substitution C T 3_prime_UTR_variant SKCM-US 12 93804628 93804628 single base substitution C T exon_variant SKCM-US 12 93804628 93804628 single base substitution C T intron_variant SKCM-US 12 93804628 93804628 single base substitution C T synonymous_variant Q100Q 300G>A SKCM-US 12 93804628 93804628 single base substitution C T synonymous_variant Q37Q 111G>A SKCM-US 12 93804628 93804628 single base substitution C T upstream_gene_variant SKCM-US 12 93804643 93804643 single base substitution C T 3_prime_UTR_variant SKCM-US 12 93804643 93804643 single base substitution C T exon_variant SKCM-US 12 93804643 93804643 single base substitution C T intron_variant SKCM-US 12 93804643 93804643 single base substitution C T stop_gained W32* 96G>A SKCM-US 12 93804643 93804643 single base substitution C T stop_gained W95* 285G>A SKCM-US 12 93804643 93804643 single base substitution C T upstream_gene_variant STAD-US 12 93804898 93804898 single base substitution G A missense_variant R70C 208C>T STAD-US 12 93804898 93804898 single base substitution G A missense_variant R7C 19C>T STAD-US 12 93804898 93804898 single base substitution G A splice_region_variant STAD-US 12 93804898 93804898 single base substitution G A upstream_gene_variant UCEC-US 12 93804512 93804512 single base substitution G A 3_prime_UTR_variant UCEC-US 12 93804512 93804512 single base substitution G A intron_variant UCEC-US 12 93804512 93804512 single base substitution G A missense_variant T139I 416C>T UCEC-US 12 93804512 93804512 single base substitution G A missense_variant T76I 227C>T UCEC-US 12 93804512 93804512 single base substitution G A splice_region_variant UCEC-US 12 93804512 93804512 single base substitution G A upstream_gene_variant UCEC-US 12 93804881 93804881 single base substitution A C intron_variant UCEC-US 12 93804881 93804881 single base substitution A C missense_variant I12M 36T>G UCEC-US 12 93804881 93804881 single base substitution A C missense_variant I75M 225T>G UCEC-US 12 93804881 93804881 single base substitution A C upstream_gene_variant UCEC-US 12 93805013 93805013 single base substitution G T 5_prime_UTR_variant UCEC-US 12 93805013 93805013 single base substitution G T exon_variant UCEC-US 12 93805013 93805013 single base substitution G T missense_variant N31K 93C>A UCEC-US 12 93805013 93805013 single base substitution G T upstream_gene_variant UCEC-US 12 93805035 93805035 single base substitution T C 5_prime_UTR_variant UCEC-US 12 93805035 93805035 single base substitution T C exon_variant UCEC-US 12 93805035 93805035 single base substitution T C missense_variant K24R 71A>G UCEC-US 12 93805035 93805035 single base substitution T C upstream_gene_variant UCEC-US 12 93835634 93835634 single base substitution G A exon_variant UCEC-US 12 93835634 93835634 single base substitution G A synonymous_variant I9I 27C>T UCEC-US 12 93835634 93835634 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-ER-A193-06 COSM3466505 c.300G>A p.Q100Q Substitution - coding silent 12:93410852-93410852 - HCC162 COSM3704462 c.193G>C p.A65P Substitution - Missense 12:93411137-93411137 - CPCG0003-F1 COSM3396097 c.97C>G p.R33G Substitution - Missense 12:93411233-93411233 - PT31 COSM5906944 c.187C>G p.P63A Substitution - Missense 12:93411143-93411143 - PCSI_0083_Pa_P_526 COSM3786122 c.292G>A p.A98T Substitution - Missense 12:93410860-93410860 - TCGA-G3-A25Y-01 COSM4917810 c.338G>C p.S113T Substitution - Missense 12:93410814-93410814 - HCC162T COSM3704462 c.193G>C p.A65P Substitution - Missense 12:93411137-93411137 - SC_9021 COSM5553587 c.163G>C p.E55Q Substitution - Missense 12:93411167-93411167 - TCGA-B5-A0JY-01 COSM944515 c.225T>G p.I75M Substitution - Missense 12:93411105-93411105 - ZZUFHECRKL-G034T COSM5440247 c.428G>A p.W143* Substitution - Nonsense 12:93410070-93410070 - PD7249a COSM5781943 c.419-8G>A p.? Unknown 12:93410087-93410087 - CHC155T COSM251199 c.418+1G>T p.? Unknown 12:93410733-93410733 - TCGA-UB-A7MB-01 COSM4931452 c.218C>T p.T73I Substitution - Missense 12:93411112-93411112 - U343 COSM5712641 c.220A>G p.K74E Substitution - Missense 12:93411110-93411110 - CHC155T COSM251199 c.418+1G>T p.? Unknown 12:93410733-93410733 - TCGA-HU-A4GQ-01 COSM4045427 c.208C>T p.R70C Substitution - Missense 12:93411122-93411122 - 0061_CRUK_PC_0061_T1_DNA COSM5423939 c.277+3_277+6delAAGT p.? Unknown 12:93411047-93411050 - CPCG_0003_Pr_P_F0 COSM3396097 c.97C>G p.R33G Substitution - Missense 12:93411233-93411233 - TCGA-DD-A4NG-01 COSM4926061 c.4G>A p.A2T Substitution - Missense 12:93441881-93441881 - ESO-161 COSM1269625 c.30+1G>A p.? Unknown 12:93441854-93441854 - TCGA-GF-A6C9-06 COSM4901444 c.285G>A p.W95* Substitution - Nonsense 12:93410867-93410867 - TCGA-DK-A1AC-01 COSM1299970 c.130G>A p.D44N Substitution - Missense 12:93411200-93411200 - LUAD-RT-S01487 COSM377857 c.88A>T p.S30C Substitution - Missense 12:93411242-93411242 - TCGA-BS-A0UF-01 COSM944517 c.71A>G p.K24R Substitution - Missense 12:93411259-93411259 - TCGA-GC-A3RD-01 COSM3793041 c.447G>A p.M149I Substitution - Missense 12:93410051-93410051 - YUSWI COSM1706030 c.16C>T p.R6C Substitution - Missense 12:93441869-93441869 - B89-12-Tumor COSM1747296 c.29A>T p.K10M Substitution - Missense 12:93441856-93441856 - ESCC-183T COSM3936203 c.18C>T p.R6R Substitution - coding silent 12:93441867-93441867 - 585270 COSM326802 c.21G>T p.R7S Substitution - Missense 12:93441864-93441864 - PT31 COSM5906945 c.186C>A p.Y62* Substitution - Nonsense 12:93411144-93411144 - TCGA-39-5019-01 COSM695394 c.261T>C p.C87C Substitution - coding silent 12:93411069-93411069 - 587342 COSM1231544 c.115A>G p.I39V Substitution - Missense 12:93411215-93411215 - TCGA-B5-A0JT-01 COSM944516 c.93C>A p.N31K Substitution - Missense 12:93411237-93411237 - CSCC-57-T COSM944518 c.27C>T p.I9I Substitution - coding silent 12:93441858-93441858 - LUAD-5V8LT COSM401373 c.254G>T p.R85I Substitution - Missense 12:93411076-93411076 - TCGA-GL-A59R-01 COSM3987261 c.185A>T p.Y62F Substitution - Missense 12:93411145-93411145 - 8066067 COSM2045547 c.198C>A p.A66A Substitution - coding silent 12:93411132-93411132 - B89-12 COSM1747296 c.29A>T p.K10M Substitution - Missense 12:93441856-93441856 - 587342 COSM1231543 c.377C>T p.A126V Substitution - Missense 12:93410775-93410775 - TCGA-EP-A3JL-01 COSM326802 c.21G>T p.R7S Substitution - Missense 12:93441864-93441864 - CHC155T COSM217047 c.418+1C>A p.? Unknown TCGA-A5-A0VQ-01 COSM944514 c.416C>T p.T139I Substitution - Missense 12:93410736-93410736 - CHC155T COSM251199 c.418+1G>T p.? Unknown 12:93410733-93410733 - 138-03-2TD COSM5417075 c.108T>C p.H36H Substitution - coding silent 12:93411222-93411222 - TCGA-FI-A2EW-01 COSM944518 c.27C>T p.I9I Substitution - coding silent 12:93441858-93441858 - YUKAT COSM5376217 c.113T>C p.V38A Substitution - Missense 12:93411217-93411217 - TCGA-AX-A06H-01 COSM944513 c.428G>T p.W143L Substitution - Missense 12:93410070-93410070 - TCGA-G4-6628-01 COSM1364895 c.193G>A p.A65T Substitution - Missense 12:93411137-93411137 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.524630 12q22 603679

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.C87C c.261T>C 12 93804845 LUSC C A 3-UTRSNV . c.456+1906G>T 12 93801912 HC C A Missense p.R70L c.209G>T 12 93804897 LUAD C A Missense p.R7S c.21G>T 12 93835640 SCLC C T SpliceDonorSNV . c.30+1G>A 12 93835630 ESCA C T Synonymous p.Q100Q c.300G>A 12 93804628 CM G A Missense p.P78L c.233C>T 12 93804873 CM G A Missense p.T139I c.416C>T 12 93804512 UCEC G A Synonymous p.I9I c.27C>T 12 93835634 UCEC G T Missense p.N31K c.93C>A 12 93805013 UCEC TGGGCTTCG - MultiAAMissense p.N132_Q135delinsK c.396_404delCGAAGCCCA 12 93804524 RCCC