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 3 132390938 132390938 + Silent SNP T T C TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr3:132390938T>C c.729T>C c.(727-729)acT>acC p.T243T BLCA 3 132394678 132394678 + Missense_Mutation SNP G G A TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr3:132394678G>A c.1042G>A c.(1042-1044)Gag>Aag p.E348K BLCA 3 132394685 132394685 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chr3:132394685C>T c.1049C>T c.(1048-1050)tCa>tTa p.S350L BLCA 3 132394703 132394703 + Missense_Mutation SNP A A T TCGA-BL-A5ZZ-01A-31D-A30E-08 TCGA-BL-A5ZZ-10A-01D-A30H-08 g.chr3:132394703A>T c.1067A>T c.(1066-1068)aAt>aTt p.N356I BRCA 3 132379431 132379431 + Missense_Mutation SNP G G A TCGA-AQ-A04J-01A-02W-A050-09 TCGA-AQ-A04J-10A-01W-A055-09 g.chr3:132379431G>A c.50G>A c.(49-51)cGg>cAg p.R17Q BRCA 3 132387769 132387769 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:132387769G>A c.405G>A c.(403-405)ctG>ctA p.L135L BRCA 3 132389818 132389818 + Silent SNP G G C TCGA-E9-A3X8-01A-31D-A22X-09 TCGA-E9-A3X8-10B-01D-A22X-09 g.chr3:132389818G>C c.504G>C c.(502-504)ggG>ggC p.G168G CESC 3 132395370 132395370 + Nonstop_Mutation SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 g.chr3:132395370G>C c.1215G>C c.(1213-1215)taG>taC p.*405Y COAD 3 132379447 132379447 + Missense_Mutation SNP G G T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr3:132379447G>T c.66G>T c.(64-66)gaG>gaT p.E22D COAD 3 132384687 132384687 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:132384687G>A c.182G>A c.(181-183)cGa>cAa p.R61Q COAD 3 132384704 132384704 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:132384704G>A c.199G>A c.(199-201)Gac>Aac p.D67N COAD 3 132384835 132384835 + Missense_Mutation SNP G G A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr3:132384835G>A c.215G>A c.(214-216)cGt>cAt p.R72H COAD 3 132389866 132389866 + Silent SNP T T C TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr3:132389866T>C c.552T>C c.(550-552)aaT>aaC p.N184N COAD 3 132390646 132390646 + Nonsense_Mutation SNP G G A TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr3:132390646G>A c.605G>A c.(604-606)tGg>tAg p.W202* COAD 3 132390655 132390655 + Missense_Mutation SNP C C A TCGA-AA-3930-01A-01W-0995-10 TCGA-AA-3930-10A-01W-0995-10 g.chr3:132390655C>A c.614C>A c.(613-615)tCt>tAt p.S205Y COAD 3 132394105 132394105 + Missense_Mutation SNP T T A TCGA-AA-3524-01A-02W-0831-10 TCGA-AA-3524-10A-01W-0831-10 g.chr3:132394105T>A c.826T>A c.(826-828)Ttt>Att p.F276I COADREAD 3 132379447 132379447 + Missense_Mutation SNP G G T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr3:132379447G>T c.66G>T c.(64-66)gaG>gaT p.E22D COADREAD 3 132384687 132384687 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:132384687G>A c.182G>A c.(181-183)cGa>cAa p.R61Q COADREAD 3 132384704 132384704 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:132384704G>A c.199G>A c.(199-201)Gac>Aac p.D67N COADREAD 3 132384835 132384835 + Missense_Mutation SNP G G A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr3:132384835G>A c.215G>A c.(214-216)cGt>cAt p.R72H COADREAD 3 132389866 132389866 + Silent SNP T T C TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr3:132389866T>C c.552T>C c.(550-552)aaT>aaC p.N184N COADREAD 3 132389866 132389866 + Silent SNP T T C TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr3:132389866T>C c.552T>C c.(550-552)aaT>aaC p.N184N COADREAD 3 132390646 132390646 + Nonsense_Mutation SNP G G A TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr3:132390646G>A c.605G>A c.(604-606)tGg>tAg p.W202* COADREAD 3 132390655 132390655 + Missense_Mutation SNP C C A TCGA-AA-3930-01A-01W-0995-10 TCGA-AA-3930-10A-01W-0995-10 g.chr3:132390655C>A c.614C>A c.(613-615)tCt>tAt p.S205Y COADREAD 3 132394105 132394105 + Missense_Mutation SNP T T A TCGA-AA-3524-01A-02W-0831-10 TCGA-AA-3524-10A-01W-0831-10 g.chr3:132394105T>A c.826T>A c.(826-828)Ttt>Att p.F276I DLBC 3 132384704 132384704 + Missense_Mutation SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr3:132384704G>A c.199G>A c.(199-201)Gac>Aac p.D67N ESCA 3 132395299 132395299 + Missense_Mutation SNP G G T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 g.chr3:132395299G>T c.1144G>T c.(1144-1146)Gtc>Ttc p.V382F GBM 3 132390695 132390695 + Silent SNP T T C TCGA-41-3393-01A-01D-1353-08 TCGA-41-3393-10A-01D-1353-08 g.chr3:132390695T>C c.654T>C c.(652-654)ctT>ctC p.L218L GBMLGG 3 132390695 132390695 + Silent SNP T T C TCGA-41-3393-01A-01D-1353-08 TCGA-41-3393-10A-01D-1353-08 g.chr3:132390695T>C c.654T>C c.(652-654)ctT>ctC p.L218L HNSC 3 132387716 132387716 + Missense_Mutation SNP T T A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 g.chr3:132387716T>A c.352T>A c.(352-354)Ttc>Atc p.F118I HNSC 3 132390725 132390725 + Splice_Site SNP G G A TCGA-F7-A623-01A-11D-A28R-08 TCGA-F7-A623-10A-01D-A28U-08 g.chr3:132390725G>A c.684G>A c.(682-684)gcG>gcA p.A228A HNSC 3 132394720 132394720 + Missense_Mutation SNP C C G TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr3:132394720C>G c.1084C>G c.(1084-1086)Cca>Gca p.P362A KIPAN 3 132387698 132387698 + Missense_Mutation SNP A A G TCGA-B0-5075-01A-01D-1462-08 TCGA-B0-5075-11A-01D-1462-08 g.chr3:132387698A>G c.334A>G c.(334-336)Aat>Gat p.N112D KIPAN 3 132387710 132387710 + Missense_Mutation SNP C C A TCGA-A3-3322-01A-01W-0886-08 TCGA-A3-3322-11A-01D-0966-08 g.chr3:132387710C>A c.346C>A c.(346-348)Ctt>Att p.L116I KIPAN 3 132387762 132387762 + Missense_Mutation SNP A A G TCGA-CJ-5678-01A-11D-1534-10 TCGA-CJ-5678-11A-01D-1534-10 g.chr3:132387762A>G c.398A>G c.(397-399)cAt>cGt p.H133R KIPAN 3 132389115 132389115 + Missense_Mutation SNP A A G TCGA-CW-5585-01A-01D-1534-10 TCGA-CW-5585-11A-01D-1535-10 g.chr3:132389115A>G c.481A>G c.(481-483)Atg>Gtg p.M161V KIPAN 3 132395353 132395353 + Frame_Shift_Del DEL A A - TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr3:132395353delA c.1198delA c.(1198-1200)aaafs p.K400fs KIRC 3 132387698 132387698 + Missense_Mutation SNP A A G TCGA-B0-5075-01A-01D-1462-08 TCGA-B0-5075-11A-01D-1462-08 g.chr3:132387698A>G c.334A>G c.(334-336)Aat>Gat p.N112D KIRC 3 132387710 132387710 + Missense_Mutation SNP C C A TCGA-A3-3322-01A-01W-0886-08 TCGA-A3-3322-11A-01D-0966-08 g.chr3:132387710C>A c.346C>A c.(346-348)Ctt>Att p.L116I KIRC 3 132387762 132387762 + Missense_Mutation SNP A A G TCGA-CJ-5678-01A-11D-1534-10 TCGA-CJ-5678-11A-01D-1534-10 g.chr3:132387762A>G c.398A>G c.(397-399)cAt>cGt p.H133R KIRC 3 132389115 132389115 + Missense_Mutation SNP A A G TCGA-CW-5585-01A-01D-1534-10 TCGA-CW-5585-11A-01D-1535-10 g.chr3:132389115A>G c.481A>G c.(481-483)Atg>Gtg p.M161V KIRP 3 132395353 132395353 + Frame_Shift_Del DEL A A - TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr3:132395353delA c.1198delA c.(1198-1200)aaafs p.K400fs LIHC 3 132389819 132389819 + Missense_Mutation SNP T T G TCGA-DD-AADU-01A-11D-A40R-10 TCGA-DD-AADU-10A-01D-A40U-10 g.chr3:132389819T>G c.505T>G c.(505-507)Tta>Gta p.L169V PAAD 3 132394147 132394147 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:132394147G>T c.868G>T c.(868-870)Gat>Tat p.D290Y PRAD 3 132394111 132394111 + Missense_Mutation SNP A A T TCGA-CH-5762-01A-11D-1576-08 TCGA-CH-5762-11A-01D-1576-08 g.chr3:132394111A>T c.832A>T c.(832-834)Act>Tct p.T278S READ 3 132389866 132389866 + Silent SNP T T C TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr3:132389866T>C c.552T>C c.(550-552)aaT>aaC p.N184N SKCM 3 132379489 132379489 + Frame_Shift_Del DEL C C - TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 g.chr3:132379489delC c.108delC c.(106-108)ggcfs p.G36fs SKCM 3 132384834 132384834 + Missense_Mutation SNP C C T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr3:132384834C>T c.214C>T c.(214-216)Cgt>Tgt p.R72C

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 3 132369280 132369280 single base substitution G C upstream_gene_variant BRCA-EU 3 132369574 132369574 single base substitution C A upstream_gene_variant BRCA-EU 3 132369815 132369815 single base substitution C A upstream_gene_variant BRCA-EU 3 132370499 132370499 single base substitution C A upstream_gene_variant BRCA-EU 3 132373397 132373397 single base substitution C A 5_prime_UTR_variant BRCA-EU 3 132373397 132373397 single base substitution C A upstream_gene_variant BRCA-EU 3 132374148 132374148 single base substitution T G intron_variant BRCA-EU 3 132374148 132374148 single base substitution T G upstream_gene_variant BRCA-EU 3 132374352 132374352 single base substitution G C intron_variant BRCA-EU 3 132374352 132374352 single base substitution G C upstream_gene_variant BRCA-EU 3 132375697 132375697 single base substitution T C intron_variant BRCA-EU 3 132375697 132375697 single base substitution T C upstream_gene_variant BRCA-EU 3 132376327 132376327 single base substitution G C intron_variant BRCA-EU 3 132376327 132376327 single base substitution G C upstream_gene_variant BRCA-EU 3 132377040 132377040 single base substitution C G intron_variant BRCA-EU 3 132377040 132377040 single base substitution C G upstream_gene_variant BRCA-EU 3 132377316 132377316 single base substitution G A intron_variant BRCA-EU 3 132377316 132377316 single base substitution G A upstream_gene_variant BRCA-EU 3 132377656 132377656 single base substitution C T intron_variant BRCA-EU 3 132377656 132377656 single base substitution C T upstream_gene_variant BRCA-EU 3 132378481 132378481 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 3 132378481 132378481 single base substitution C T intron_variant BRCA-EU 3 132378481 132378481 single base substitution C T upstream_gene_variant BRCA-EU 3 132379148 132379148 single base substitution G C 5_prime_UTR_variant BRCA-EU 3 132379148 132379148 single base substitution G C exon_variant BRCA-EU 3 132379148 132379148 single base substitution G C intron_variant BRCA-EU 3 132379148 132379148 single base substitution G C upstream_gene_variant BRCA-EU 3 132379403 132379403 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 3 132379403 132379403 single base substitution C T exon_variant BRCA-EU 3 132379403 132379403 single base substitution C T intron_variant BRCA-EU 3 132379403 132379403 single base substitution C T synonymous_variant L8L 22C>T BRCA-EU 3 132379403 132379403 single base substitution C T upstream_gene_variant BRCA-EU 3 132379471 132379471 single base substitution C T 5_prime_UTR_variant BRCA-EU 3 132379471 132379471 single base substitution C T exon_variant BRCA-EU 3 132379471 132379471 single base substitution C T intron_variant BRCA-EU 3 132379471 132379471 single base substitution C T synonymous_variant S30S 90C>T BRCA-EU 3 132379471 132379471 single base substitution C T upstream_gene_variant BRCA-EU 3 132380381 132380381 single base substitution T C downstream_gene_variant BRCA-EU 3 132380381 132380381 single base substitution T C intron_variant BRCA-EU 3 132380381 132380381 single base substitution T C upstream_gene_variant BRCA-EU 3 132381821 132381821 single base substitution A T downstream_gene_variant BRCA-EU 3 132381821 132381821 single base substitution A T intron_variant BRCA-EU 3 132381821 132381821 single base substitution A T upstream_gene_variant BRCA-EU 3 132381853 132381853 single base substitution C G downstream_gene_variant BRCA-EU 3 132381853 132381853 single base substitution C G intron_variant BRCA-EU 3 132381853 132381853 single base substitution C G upstream_gene_variant BRCA-EU 3 132383702 132383702 single base substitution A G downstream_gene_variant BRCA-EU 3 132383702 132383702 single base substitution A G intron_variant BRCA-EU 3 132383702 132383702 single base substitution A G upstream_gene_variant BRCA-EU 3 132386150 132386150 single base substitution G A downstream_gene_variant BRCA-EU 3 132386150 132386150 single base substitution G A exon_variant BRCA-EU 3 132386150 132386150 single base substitution G A intron_variant BRCA-EU 3 132386150 132386150 single base substitution G A upstream_gene_variant BRCA-EU 3 132386463 132386463 single base substitution A G downstream_gene_variant BRCA-EU 3 132386463 132386463 single base substitution A G exon_variant BRCA-EU 3 132386463 132386463 single base substitution A G intron_variant BRCA-EU 3 132386463 132386463 single base substitution A G upstream_gene_variant BRCA-EU 3 132388762 132388762 single base substitution T C downstream_gene_variant BRCA-EU 3 132388762 132388762 single base substitution T C intron_variant BRCA-EU 3 132388762 132388762 single base substitution T C upstream_gene_variant BRCA-EU 3 132389210 132389210 single base substitution C T downstream_gene_variant BRCA-EU 3 132389210 132389210 single base substitution C T intron_variant BRCA-EU 3 132389210 132389210 single base substitution C T upstream_gene_variant BRCA-EU 3 132390284 132390284 single base substitution G A downstream_gene_variant BRCA-EU 3 132390284 132390284 single base substitution G A intron_variant BRCA-EU 3 132390284 132390284 single base substitution G A upstream_gene_variant BRCA-EU 3 132390860 132390860 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 132390860 132390860 deletion of <=200bp T - exon_variant BRCA-EU 3 132390860 132390860 deletion of <=200bp T - intron_variant BRCA-EU 3 132390860 132390860 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 132391453 132391453 single base substitution A T downstream_gene_variant BRCA-EU 3 132391453 132391453 single base substitution A T intron_variant BRCA-EU 3 132391453 132391453 single base substitution A T upstream_gene_variant BRCA-EU 3 132391980 132391980 single base substitution A G downstream_gene_variant BRCA-EU 3 132391980 132391980 single base substitution A G intron_variant BRCA-EU 3 132391980 132391980 single base substitution A G upstream_gene_variant BRCA-EU 3 132392388 132392388 single base substitution C T downstream_gene_variant BRCA-EU 3 132392388 132392388 single base substitution C T intron_variant BRCA-EU 3 132392388 132392388 single base substitution C T upstream_gene_variant BRCA-EU 3 132392940 132392940 single base substitution A T downstream_gene_variant BRCA-EU 3 132392940 132392940 single base substitution A T intron_variant BRCA-EU 3 132392940 132392940 single base substitution A T upstream_gene_variant BRCA-EU 3 132393188 132393188 single base substitution G A downstream_gene_variant BRCA-EU 3 132393188 132393188 single base substitution G A intron_variant BRCA-EU 3 132393188 132393188 single base substitution G A upstream_gene_variant BRCA-EU 3 132397193 132397193 single base substitution A C downstream_gene_variant BRCA-EU 3 132397683 132397683 single base substitution G C downstream_gene_variant BRCA-EU 3 132397807 132397807 single base substitution A G downstream_gene_variant BRCA-EU 3 132397893 132397893 single base substitution C G downstream_gene_variant BRCA-EU 3 132398156 132398156 single base substitution A G downstream_gene_variant BRCA-EU 3 132399902 132399902 single base substitution G T downstream_gene_variant BRCA-UK 3 132381888 132381888 single base substitution G A downstream_gene_variant BRCA-UK 3 132381888 132381888 single base substitution G A intron_variant BRCA-UK 3 132381888 132381888 single base substitution G A upstream_gene_variant BRCA-UK 3 132386931 132386931 single base substitution G A downstream_gene_variant BRCA-UK 3 132386931 132386931 single base substitution G A exon_variant BRCA-UK 3 132386931 132386931 single base substitution G A intron_variant BRCA-UK 3 132386931 132386931 single base substitution G A upstream_gene_variant BRCA-UK 3 132389043 132389043 deletion of <=200bp A - downstream_gene_variant BRCA-UK 3 132389043 132389043 deletion of <=200bp A - frameshift_variant N137 BRCA-UK 3 132389043 132389043 deletion of <=200bp A - frameshift_variant N47 BRCA-UK 3 132389043 132389043 deletion of <=200bp A - frameshift_variant N81 BRCA-UK 3 132389043 132389043 deletion of <=200bp A - splice_region_variant BRCA-UK 3 132389043 132389043 deletion of <=200bp A - upstream_gene_variant BRCA-UK 3 132394666 132394666 single base substitution G C downstream_gene_variant BRCA-UK 3 132394666 132394666 single base substitution G C exon_variant BRCA-UK 3 132394666 132394666 single base substitution G C intron_variant BRCA-UK 3 132394666 132394666 single base substitution G C missense_variant E288Q 862G>C BRCA-UK 3 132394666 132394666 single base substitution G C missense_variant E344Q 1030G>C BRCA-US 3 132378462 132378462 single base substitution G T 5_prime_UTR_variant BRCA-US 3 132378462 132378462 single base substitution G T intron_variant BRCA-US 3 132378462 132378462 single base substitution G T upstream_gene_variant BRCA-US 3 132379431 132379431 single base substitution G A 5_prime_UTR_variant BRCA-US 3 132379431 132379431 single base substitution G A exon_variant BRCA-US 3 132379431 132379431 single base substitution G A intron_variant BRCA-US 3 132379431 132379431 single base substitution G A missense_variant R17Q 50G>A BRCA-US 3 132379431 132379431 single base substitution G A upstream_gene_variant BRCA-US 3 132387769 132387769 single base substitution G A downstream_gene_variant BRCA-US 3 132387769 132387769 single base substitution G A splice_region_variant BRCA-US 3 132387769 132387769 single base substitution G A synonymous_variant L79L 237G>A BRCA-US 3 132387769 132387769 single base substitution G A upstream_gene_variant BRCA-US 3 132389818 132389818 single base substitution G C 3_prime_UTR_variant BRCA-US 3 132389818 132389818 single base substitution G C downstream_gene_variant BRCA-US 3 132389818 132389818 single base substitution G C exon_variant BRCA-US 3 132389818 132389818 single base substitution G C synonymous_variant G112G 336G>C BRCA-US 3 132389818 132389818 single base substitution G C synonymous_variant G168G 504G>C BRCA-US 3 132389818 132389818 single base substitution G C synonymous_variant G78G 234G>C BRCA-US 3 132389818 132389818 single base substitution G C upstream_gene_variant BTCA-JP 3 132378410 132378410 single base substitution A T 5_prime_UTR_variant BTCA-JP 3 132378410 132378410 single base substitution A T intron_variant BTCA-JP 3 132378410 132378410 single base substitution A T upstream_gene_variant BTCA-JP 3 132384911 132384911 single base substitution T C exon_variant BTCA-JP 3 132384911 132384911 single base substitution T C intron_variant BTCA-JP 3 132384911 132384911 single base substitution T C synonymous_variant I41I 123T>C BTCA-JP 3 132384911 132384911 single base substitution T C synonymous_variant I97I 291T>C BTCA-JP 3 132384911 132384911 single base substitution T C upstream_gene_variant BTCA-JP 3 132387758 132387758 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 132387758 132387758 single base substitution G A downstream_gene_variant BTCA-JP 3 132387758 132387758 single base substitution G A exon_variant BTCA-JP 3 132387758 132387758 single base substitution G A missense_variant E132K 394G>A BTCA-JP 3 132387758 132387758 single base substitution G A missense_variant E42K 124G>A BTCA-JP 3 132387758 132387758 single base substitution G A missense_variant E76K 226G>A BTCA-JP 3 132387758 132387758 single base substitution G A upstream_gene_variant BTCA-JP 3 132390860 132390860 deletion of <=200bp T - downstream_gene_variant BTCA-JP 3 132390860 132390860 deletion of <=200bp T - exon_variant BTCA-JP 3 132390860 132390860 deletion of <=200bp T - intron_variant BTCA-JP 3 132390860 132390860 deletion of <=200bp T - upstream_gene_variant CESC-US 3 132395370 132395370 single base substitution G C 3_prime_UTR_variant CESC-US 3 132395370 132395370 single base substitution G C downstream_gene_variant CESC-US 3 132395370 132395370 single base substitution G C exon_variant CESC-US 3 132395370 132395370 single base substitution G C intron_variant CESC-US 3 132395370 132395370 single base substitution G C stop_lost *349Y 1047G>C CESC-US 3 132395370 132395370 single base substitution G C stop_lost *405Y 1215G>C CESC-US 3 132401567 132401567 single base substitution C T downstream_gene_variant CLLE-ES 3 132388440 132388440 single base substitution C A downstream_gene_variant CLLE-ES 3 132388440 132388440 single base substitution C A intron_variant CLLE-ES 3 132388440 132388440 single base substitution C A upstream_gene_variant COAD-US 3 132379447 132379447 single base substitution G T 5_prime_UTR_variant COAD-US 3 132379447 132379447 single base substitution G T exon_variant COAD-US 3 132379447 132379447 single base substitution G T intron_variant COAD-US 3 132379447 132379447 single base substitution G T missense_variant E22D 66G>T COAD-US 3 132379447 132379447 single base substitution G T splice_region_variant COAD-US 3 132379447 132379447 single base substitution G T upstream_gene_variant COAD-US 3 132384704 132384704 single base substitution G A downstream_gene_variant COAD-US 3 132384704 132384704 single base substitution G A exon_variant COAD-US 3 132384704 132384704 single base substitution G A intron_variant COAD-US 3 132384704 132384704 single base substitution G A missense_variant D11N 31G>A COAD-US 3 132384704 132384704 single base substitution G A missense_variant D67N 199G>A COAD-US 3 132384704 132384704 single base substitution G A upstream_gene_variant COCA-CN 3 132400712 132400712 single base substitution T G downstream_gene_variant ESAD-UK 3 132368417 132368417 single base substitution C T upstream_gene_variant ESAD-UK 3 132368939 132368939 single base substitution G C upstream_gene_variant ESAD-UK 3 132371180 132371180 single base substitution A G upstream_gene_variant ESAD-UK 3 132371615 132371615 single base substitution C T upstream_gene_variant ESAD-UK 3 132374156 132374156 single base substitution G T intron_variant ESAD-UK 3 132374156 132374156 single base substitution G T upstream_gene_variant ESAD-UK 3 132378900 132378900 single base substitution G C 5_prime_UTR_variant ESAD-UK 3 132378900 132378900 single base substitution G C intron_variant ESAD-UK 3 132378900 132378900 single base substitution G C upstream_gene_variant ESAD-UK 3 132383045 132383045 single base substitution C A downstream_gene_variant ESAD-UK 3 132383045 132383045 single base substitution C A intron_variant ESAD-UK 3 132383045 132383045 single base substitution C A upstream_gene_variant ESAD-UK 3 132388792 132388792 single base substitution T C downstream_gene_variant ESAD-UK 3 132388792 132388792 single base substitution T C intron_variant ESAD-UK 3 132388792 132388792 single base substitution T C upstream_gene_variant ESAD-UK 3 132389931 132389931 single base substitution T C downstream_gene_variant ESAD-UK 3 132389931 132389931 single base substitution T C intron_variant ESAD-UK 3 132389931 132389931 single base substitution T C upstream_gene_variant ESAD-UK 3 132392632 132392632 single base substitution C A downstream_gene_variant ESAD-UK 3 132392632 132392632 single base substitution C A intron_variant ESAD-UK 3 132392632 132392632 single base substitution C A upstream_gene_variant ESAD-UK 3 132394871 132394871 single base substitution T C downstream_gene_variant ESAD-UK 3 132394871 132394871 single base substitution T C intron_variant ESAD-UK 3 132396072 132396072 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 132396072 132396072 single base substitution C T downstream_gene_variant ESAD-UK 3 132396072 132396072 single base substitution C T exon_variant ESAD-UK 3 132396359 132396359 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 132396359 132396359 single base substitution G A downstream_gene_variant ESAD-UK 3 132396359 132396359 single base substitution G A exon_variant ESAD-UK 3 132397524 132397524 single base substitution C T downstream_gene_variant ESAD-UK 3 132398293 132398295 deletion of <=200bp TCT - downstream_gene_variant ESAD-UK 3 132398521 132398521 single base substitution C T downstream_gene_variant ESAD-UK 3 132398598 132398598 single base substitution T G downstream_gene_variant ESAD-UK 3 132400659 132400659 single base substitution C T downstream_gene_variant GBM-US 3 132390695 132390695 single base substitution T C downstream_gene_variant GBM-US 3 132390695 132390695 single base substitution T C exon_variant GBM-US 3 132390695 132390695 single base substitution T C synonymous_variant L162L 486T>C GBM-US 3 132390695 132390695 single base substitution T C synonymous_variant L218L 654T>C GBM-US 3 132390695 132390695 single base substitution T C upstream_gene_variant KIRC-US 3 132387762 132387762 single base substitution A G 3_prime_UTR_variant KIRC-US 3 132387762 132387762 single base substitution A G downstream_gene_variant KIRC-US 3 132387762 132387762 single base substitution A G exon_variant KIRC-US 3 132387762 132387762 single base substitution A G missense_variant H133R 398A>G KIRC-US 3 132387762 132387762 single base substitution A G missense_variant H43R 128A>G KIRC-US 3 132387762 132387762 single base substitution A G missense_variant H77R 230A>G KIRC-US 3 132387762 132387762 single base substitution A G upstream_gene_variant KIRP-US 3 132379518 132379518 single base substitution A T 5_prime_UTR_variant KIRP-US 3 132379518 132379518 single base substitution A T exon_variant KIRP-US 3 132379518 132379518 single base substitution A T intron_variant KIRP-US 3 132379518 132379518 single base substitution A T missense_variant E46V 137A>T KIRP-US 3 132379518 132379518 single base substitution A T upstream_gene_variant LAML-KR 3 132394784 132394784 single base substitution A T downstream_gene_variant LAML-KR 3 132394784 132394784 single base substitution A T intron_variant LICA-FR 3 132379419 132379419 single base substitution A G 5_prime_UTR_variant LICA-FR 3 132379419 132379419 single base substitution A G exon_variant LICA-FR 3 132379419 132379419 single base substitution A G intron_variant LICA-FR 3 132379419 132379419 single base substitution A G missense_variant Q13R 38A>G LICA-FR 3 132379419 132379419 single base substitution A G upstream_gene_variant LICA-FR 3 132387660 132387660 single base substitution A G downstream_gene_variant LICA-FR 3 132387660 132387660 single base substitution A G exon_variant LICA-FR 3 132387660 132387660 single base substitution A G splice_acceptor_variant LICA-FR 3 132387660 132387660 single base substitution A G upstream_gene_variant LICA-FR 3 132389357 132389357 single base substitution G C downstream_gene_variant LICA-FR 3 132389357 132389357 single base substitution G C intron_variant LICA-FR 3 132389357 132389357 single base substitution G C upstream_gene_variant LICA-FR 3 132395324 132395324 single base substitution C G 3_prime_UTR_variant LICA-FR 3 132395324 132395324 single base substitution C G downstream_gene_variant LICA-FR 3 132395324 132395324 single base substitution C G exon_variant LICA-FR 3 132395324 132395324 single base substitution C G intron_variant LICA-FR 3 132395324 132395324 single base substitution C G missense_variant S334C 1001C>G LICA-FR 3 132395324 132395324 single base substitution C G missense_variant S390C 1169C>G LIHC-US 3 132378583 132378583 single base substitution C A 5_prime_UTR_variant LIHC-US 3 132378583 132378583 single base substitution C A intron_variant LIHC-US 3 132378583 132378583 single base substitution C A upstream_gene_variant LINC-JP 3 132377906 132377906 single base substitution C T intron_variant LINC-JP 3 132377906 132377906 single base substitution C T upstream_gene_variant LINC-JP 3 132379370 132379370 single base substitution G A 5_prime_UTR_variant LINC-JP 3 132379370 132379370 single base substitution G A exon_variant LINC-JP 3 132379370 132379370 single base substitution G A intron_variant LINC-JP 3 132379370 132379370 single base substitution G A upstream_gene_variant LINC-JP 3 132382784 132382784 single base substitution T G downstream_gene_variant LINC-JP 3 132382784 132382784 single base substitution T G intron_variant LINC-JP 3 132382784 132382784 single base substitution T G upstream_gene_variant LINC-JP 3 132385571 132385571 single base substitution C T downstream_gene_variant LINC-JP 3 132385571 132385571 single base substitution C T intron_variant LINC-JP 3 132385571 132385571 single base substitution C T upstream_gene_variant LINC-JP 3 132390131 132390131 single base substitution A G downstream_gene_variant LINC-JP 3 132390131 132390131 single base substitution A G intron_variant LINC-JP 3 132390131 132390131 single base substitution A G upstream_gene_variant LINC-JP 3 132399273 132399273 single base substitution T G downstream_gene_variant LINC-JP 3 132399839 132399839 single base substitution T C downstream_gene_variant LINC-JP 3 132400573 132400573 single base substitution T C downstream_gene_variant LIRI-JP 3 132369989 132369989 single base substitution T C upstream_gene_variant LIRI-JP 3 132372502 132372502 single base substitution C G upstream_gene_variant LIRI-JP 3 132372780 132372780 single base substitution T C upstream_gene_variant LIRI-JP 3 132372803 132372803 single base substitution C A upstream_gene_variant LIRI-JP 3 132374658 132374658 single base substitution T C intron_variant LIRI-JP 3 132374658 132374658 single base substitution T C upstream_gene_variant LIRI-JP 3 132374816 132374816 single base substitution T C intron_variant LIRI-JP 3 132374816 132374816 single base substitution T C upstream_gene_variant LIRI-JP 3 132377153 132377153 single base substitution T C intron_variant LIRI-JP 3 132377153 132377153 single base substitution T C upstream_gene_variant LIRI-JP 3 132377397 132377397 single base substitution G C intron_variant LIRI-JP 3 132377397 132377397 single base substitution G C upstream_gene_variant LIRI-JP 3 132377626 132377626 single base substitution C T intron_variant LIRI-JP 3 132377626 132377626 single base substitution C T upstream_gene_variant LIRI-JP 3 132380198 132380198 single base substitution C A downstream_gene_variant LIRI-JP 3 132380198 132380198 single base substitution C A intron_variant LIRI-JP 3 132380198 132380198 single base substitution C A upstream_gene_variant LIRI-JP 3 132382603 132382603 single base substitution A G downstream_gene_variant LIRI-JP 3 132382603 132382603 single base substitution A G intron_variant LIRI-JP 3 132382603 132382603 single base substitution A G upstream_gene_variant LIRI-JP 3 132382615 132382615 single base substitution A G downstream_gene_variant LIRI-JP 3 132382615 132382615 single base substitution A G intron_variant LIRI-JP 3 132382615 132382615 single base substitution A G upstream_gene_variant LIRI-JP 3 132382621 132382621 single base substitution A T downstream_gene_variant LIRI-JP 3 132382621 132382621 single base substitution A T intron_variant LIRI-JP 3 132382621 132382621 single base substitution A T upstream_gene_variant LIRI-JP 3 132384747 132384747 single base substitution A G downstream_gene_variant LIRI-JP 3 132384747 132384747 single base substitution A G intron_variant LIRI-JP 3 132384747 132384747 single base substitution A G upstream_gene_variant LIRI-JP 3 132384760 132384760 single base substitution A C downstream_gene_variant LIRI-JP 3 132384760 132384760 single base substitution A C intron_variant LIRI-JP 3 132384760 132384760 single base substitution A C upstream_gene_variant LIRI-JP 3 132386047 132386047 single base substitution G T downstream_gene_variant LIRI-JP 3 132386047 132386047 single base substitution G T intron_variant LIRI-JP 3 132386047 132386047 single base substitution G T upstream_gene_variant LIRI-JP 3 132386216 132386216 single base substitution G A downstream_gene_variant LIRI-JP 3 132386216 132386216 single base substitution G A exon_variant LIRI-JP 3 132386216 132386216 single base substitution G A intron_variant LIRI-JP 3 132386216 132386216 single base substitution G A upstream_gene_variant LIRI-JP 3 132386306 132386306 single base substitution A C downstream_gene_variant LIRI-JP 3 132386306 132386306 single base substitution A C exon_variant LIRI-JP 3 132386306 132386306 single base substitution A C intron_variant LIRI-JP 3 132386306 132386306 single base substitution A C upstream_gene_variant LIRI-JP 3 132388689 132388703 deletion of <=200bp AATCTTTATGACAAA - downstream_gene_variant LIRI-JP 3 132388689 132388703 deletion of <=200bp AATCTTTATGACAAA - intron_variant LIRI-JP 3 132388689 132388703 deletion of <=200bp AATCTTTATGACAAA - upstream_gene_variant LIRI-JP 3 132390029 132390029 single base substitution A G downstream_gene_variant LIRI-JP 3 132390029 132390029 single base substitution A G intron_variant LIRI-JP 3 132390029 132390029 single base substitution A G upstream_gene_variant LIRI-JP 3 132390583 132390583 single base substitution T C downstream_gene_variant LIRI-JP 3 132390583 132390583 single base substitution T C intron_variant LIRI-JP 3 132390583 132390583 single base substitution T C upstream_gene_variant LIRI-JP 3 132391613 132391613 single base substitution T C downstream_gene_variant LIRI-JP 3 132391613 132391613 single base substitution T C intron_variant LIRI-JP 3 132391613 132391613 single base substitution T C upstream_gene_variant LIRI-JP 3 132391881 132391881 single base substitution A T downstream_gene_variant LIRI-JP 3 132391881 132391881 single base substitution A T intron_variant LIRI-JP 3 132391881 132391881 single base substitution A T upstream_gene_variant LIRI-JP 3 132393676 132393676 single base substitution G C downstream_gene_variant LIRI-JP 3 132393676 132393676 single base substitution G C intron_variant LIRI-JP 3 132393676 132393676 single base substitution G C upstream_gene_variant LIRI-JP 3 132394058 132394058 single base substitution A G downstream_gene_variant LIRI-JP 3 132394058 132394058 single base substitution A G intron_variant LIRI-JP 3 132394058 132394058 single base substitution A G upstream_gene_variant LIRI-JP 3 132394806 132394806 single base substitution T G downstream_gene_variant LIRI-JP 3 132394806 132394806 single base substitution T G intron_variant LIRI-JP 3 132394879 132394879 single base substitution A G downstream_gene_variant LIRI-JP 3 132394879 132394879 single base substitution A G intron_variant LIRI-JP 3 132395349 132395349 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 132395349 132395349 single base substitution G A downstream_gene_variant LIRI-JP 3 132395349 132395349 single base substitution G A exon_variant LIRI-JP 3 132395349 132395349 single base substitution G A intron_variant LIRI-JP 3 132395349 132395349 single base substitution G A missense_variant M342I 1026G>A LIRI-JP 3 132395349 132395349 single base substitution G A missense_variant M398I 1194G>A LIRI-JP 3 132396930 132396930 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 132396930 132396930 single base substitution T C downstream_gene_variant LIRI-JP 3 132397177 132397177 single base substitution T G downstream_gene_variant LIRI-JP 3 132397308 132397308 single base substitution T C downstream_gene_variant LIRI-JP 3 132397320 132397320 single base substitution T A downstream_gene_variant LIRI-JP 3 132397954 132397954 single base substitution A G downstream_gene_variant LIRI-JP 3 132398746 132398746 single base substitution A G downstream_gene_variant LIRI-JP 3 132399431 132399431 single base substitution A G downstream_gene_variant LIRI-JP 3 132399718 132399718 single base substitution T G downstream_gene_variant LIRI-JP 3 132400165 132400165 single base substitution T A downstream_gene_variant LIRI-JP 3 132400306 132400306 single base substitution T G downstream_gene_variant LIRI-JP 3 132400313 132400313 single base substitution T C downstream_gene_variant LIRI-JP 3 132400546 132400546 single base substitution T C downstream_gene_variant LIRI-JP 3 132401141 132401141 single base substitution A G downstream_gene_variant LIRI-JP 3 132401551 132401551 single base substitution G C downstream_gene_variant LIRI-JP 3 132401596 132401596 single base substitution G A downstream_gene_variant LIRI-JP 3 132401803 132401803 single base substitution A G downstream_gene_variant LUSC-KR 3 132378255 132378255 single base substitution C G intron_variant LUSC-KR 3 132378255 132378255 single base substitution C G upstream_gene_variant LUSC-KR 3 132384178 132384178 single base substitution A T downstream_gene_variant LUSC-KR 3 132384178 132384178 single base substitution A T intron_variant LUSC-KR 3 132384178 132384178 single base substitution A T upstream_gene_variant LUSC-KR 3 132385500 132385500 single base substitution C T downstream_gene_variant LUSC-KR 3 132385500 132385500 single base substitution C T intron_variant LUSC-KR 3 132385500 132385500 single base substitution C T upstream_gene_variant LUSC-KR 3 132399692 132399692 single base substitution A T downstream_gene_variant LUSC-US 3 132400856 132400856 single base substitution G C downstream_gene_variant MALY-DE 3 132393397 132393397 single base substitution G A downstream_gene_variant MALY-DE 3 132393397 132393397 single base substitution G A intron_variant MALY-DE 3 132393397 132393397 single base substitution G A upstream_gene_variant MELA-AU 3 132368651 132368651 single base substitution G A upstream_gene_variant MELA-AU 3 132368968 132368968 single base substitution G A upstream_gene_variant MELA-AU 3 132368986 132368986 single base substitution G A upstream_gene_variant MELA-AU 3 132369305 132369306 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 132369669 132369669 single base substitution A T upstream_gene_variant MELA-AU 3 132370192 132370192 single base substitution C T upstream_gene_variant MELA-AU 3 132370301 132370301 single base substitution A T upstream_gene_variant MELA-AU 3 132370335 132370335 single base substitution A G upstream_gene_variant MELA-AU 3 132370528 132370528 single base substitution G A upstream_gene_variant MELA-AU 3 132370613 132370613 single base substitution G A upstream_gene_variant MELA-AU 3 132370672 132370672 single base substitution G A upstream_gene_variant MELA-AU 3 132371516 132371516 single base substitution A T upstream_gene_variant MELA-AU 3 132372540 132372540 single base substitution C T upstream_gene_variant MELA-AU 3 132373148 132373148 single base substitution G A upstream_gene_variant MELA-AU 3 132373757 132373757 single base substitution G A intron_variant MELA-AU 3 132373757 132373757 single base substitution G A upstream_gene_variant MELA-AU 3 132374411 132374411 single base substitution G A intron_variant MELA-AU 3 132374411 132374411 single base substitution G A upstream_gene_variant MELA-AU 3 132375127 132375127 single base substitution A G intron_variant MELA-AU 3 132375127 132375127 single base substitution A G upstream_gene_variant MELA-AU 3 132375289 132375289 single base substitution C T intron_variant MELA-AU 3 132375289 132375289 single base substitution C T upstream_gene_variant MELA-AU 3 132376935 132376935 single base substitution G A intron_variant MELA-AU 3 132376935 132376935 single base substitution G A upstream_gene_variant MELA-AU 3 132377060 132377060 single base substitution C T intron_variant MELA-AU 3 132377060 132377060 single base substitution C T upstream_gene_variant MELA-AU 3 132378282 132378282 single base substitution G A intron_variant MELA-AU 3 132378282 132378282 single base substitution G A upstream_gene_variant MELA-AU 3 132378982 132378983 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 3 132378982 132378983 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 132378982 132378983 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 132379179 132379179 single base substitution G A 5_prime_UTR_variant MELA-AU 3 132379179 132379179 single base substitution G A exon_variant MELA-AU 3 132379179 132379179 single base substitution G A intron_variant MELA-AU 3 132379179 132379179 single base substitution G A upstream_gene_variant MELA-AU 3 132379483 132379484 multiple base substitution (>=2bp and <=200bp) GG AT 5_prime_UTR_variant MELA-AU 3 132379483 132379484 multiple base substitution (>=2bp and <=200bp) GG AT exon_variant MELA-AU 3 132379483 132379484 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 3 132379483 132379484 multiple base substitution (>=2bp and <=200bp) GG AT missense_variant GG34GC MELA-AU 3 132379483 132379484 multiple base substitution (>=2bp and <=200bp) GG AT upstream_gene_variant MELA-AU 3 132380470 132380470 single base substitution C G downstream_gene_variant MELA-AU 3 132380470 132380470 single base substitution C G intron_variant MELA-AU 3 132380470 132380470 single base substitution C G upstream_gene_variant MELA-AU 3 132380586 132380586 single base substitution A T downstream_gene_variant MELA-AU 3 132380586 132380586 single base substitution A T intron_variant MELA-AU 3 132380586 132380586 single base substitution A T upstream_gene_variant MELA-AU 3 132381599 132381599 single base substitution A G downstream_gene_variant MELA-AU 3 132381599 132381599 single base substitution A G intron_variant MELA-AU 3 132381599 132381599 single base substitution A G upstream_gene_variant MELA-AU 3 132382025 132382025 single base substitution C T downstream_gene_variant MELA-AU 3 132382025 132382025 single base substitution C T intron_variant MELA-AU 3 132382025 132382025 single base substitution C T upstream_gene_variant MELA-AU 3 132384344 132384344 single base substitution T A downstream_gene_variant MELA-AU 3 132384344 132384344 single base substitution T A intron_variant MELA-AU 3 132384344 132384344 single base substitution T A upstream_gene_variant MELA-AU 3 132386222 132386222 single base substitution A C downstream_gene_variant MELA-AU 3 132386222 132386222 single base substitution A C exon_variant MELA-AU 3 132386222 132386222 single base substitution A C intron_variant MELA-AU 3 132386222 132386222 single base substitution A C upstream_gene_variant MELA-AU 3 132386408 132386408 single base substitution T A downstream_gene_variant MELA-AU 3 132386408 132386408 single base substitution T A exon_variant MELA-AU 3 132386408 132386408 single base substitution T A intron_variant MELA-AU 3 132386408 132386408 single base substitution T A upstream_gene_variant MELA-AU 3 132387318 132387318 single base substitution C A downstream_gene_variant MELA-AU 3 132387318 132387318 single base substitution C A exon_variant MELA-AU 3 132387318 132387318 single base substitution C A intron_variant MELA-AU 3 132387318 132387318 single base substitution C A upstream_gene_variant MELA-AU 3 132388496 132388496 single base substitution C T downstream_gene_variant MELA-AU 3 132388496 132388496 single base substitution C T intron_variant MELA-AU 3 132388496 132388496 single base substitution C T upstream_gene_variant MELA-AU 3 132388586 132388586 single base substitution T C downstream_gene_variant MELA-AU 3 132388586 132388586 single base substitution T C intron_variant MELA-AU 3 132388586 132388586 single base substitution T C upstream_gene_variant MELA-AU 3 132388834 132388834 single base substitution G C downstream_gene_variant MELA-AU 3 132388834 132388834 single base substitution G C intron_variant MELA-AU 3 132388834 132388834 single base substitution G C upstream_gene_variant MELA-AU 3 132388908 132388908 single base substitution C T downstream_gene_variant MELA-AU 3 132388908 132388908 single base substitution C T intron_variant MELA-AU 3 132388908 132388908 single base substitution C T upstream_gene_variant MELA-AU 3 132391042 132391042 single base substitution C T downstream_gene_variant MELA-AU 3 132391042 132391042 single base substitution C T intron_variant MELA-AU 3 132391042 132391042 single base substitution C T upstream_gene_variant MELA-AU 3 132391294 132391294 single base substitution C T downstream_gene_variant MELA-AU 3 132391294 132391294 single base substitution C T intron_variant MELA-AU 3 132391294 132391294 single base substitution C T upstream_gene_variant MELA-AU 3 132391358 132391358 single base substitution T C downstream_gene_variant MELA-AU 3 132391358 132391358 single base substitution T C intron_variant MELA-AU 3 132391358 132391358 single base substitution T C upstream_gene_variant MELA-AU 3 132394957 132394957 single base substitution T C downstream_gene_variant MELA-AU 3 132394957 132394957 single base substitution T C intron_variant MELA-AU 3 132395396 132395396 single base substitution T A 3_prime_UTR_variant MELA-AU 3 132395396 132395396 single base substitution T A downstream_gene_variant MELA-AU 3 132395396 132395396 single base substitution T A exon_variant MELA-AU 3 132395396 132395396 single base substitution T A intron_variant MELA-AU 3 132397132 132397132 single base substitution C T downstream_gene_variant MELA-AU 3 132398767 132398767 single base substitution A G downstream_gene_variant MELA-AU 3 132400661 132400661 single base substitution T C downstream_gene_variant MELA-AU 3 132401776 132401776 single base substitution G A downstream_gene_variant MELA-AU 3 132401778 132401778 single base substitution T A downstream_gene_variant ORCA-IN 3 132380457 132380457 single base substitution G C downstream_gene_variant ORCA-IN 3 132380457 132380457 single base substitution G C intron_variant ORCA-IN 3 132380457 132380457 single base substitution G C upstream_gene_variant ORCA-IN 3 132380789 132380789 single base substitution G A downstream_gene_variant ORCA-IN 3 132380789 132380789 single base substitution G A intron_variant ORCA-IN 3 132380789 132380789 single base substitution G A upstream_gene_variant ORCA-IN 3 132387036 132387036 single base substitution T A downstream_gene_variant ORCA-IN 3 132387036 132387036 single base substitution T A exon_variant ORCA-IN 3 132387036 132387036 single base substitution T A intron_variant ORCA-IN 3 132387036 132387036 single base substitution T A upstream_gene_variant OV-AU 3 132376493 132376493 single base substitution T A intron_variant OV-AU 3 132376493 132376493 single base substitution T A upstream_gene_variant OV-AU 3 132378441 132378441 single base substitution C A 5_prime_UTR_variant OV-AU 3 132378441 132378441 single base substitution C A intron_variant OV-AU 3 132378441 132378441 single base substitution C A upstream_gene_variant OV-AU 3 132387234 132387234 single base substitution A G downstream_gene_variant OV-AU 3 132387234 132387234 single base substitution A G exon_variant OV-AU 3 132387234 132387234 single base substitution A G intron_variant OV-AU 3 132387234 132387234 single base substitution A G upstream_gene_variant OV-AU 3 132395180 132395180 single base substitution C G downstream_gene_variant OV-AU 3 132395180 132395180 single base substitution C G intron_variant OV-AU 3 132397914 132397914 single base substitution C G downstream_gene_variant PACA-AU 3 132368500 132368500 single base substitution C A upstream_gene_variant PACA-AU 3 132378093 132378093 single base substitution C T intron_variant PACA-AU 3 132378093 132378093 single base substitution C T upstream_gene_variant PACA-AU 3 132380254 132380254 single base substitution G T downstream_gene_variant PACA-AU 3 132380254 132380254 single base substitution G T intron_variant PACA-AU 3 132380254 132380254 single base substitution G T upstream_gene_variant PACA-AU 3 132380880 132380880 single base substitution T C downstream_gene_variant PACA-AU 3 132380880 132380880 single base substitution T C intron_variant PACA-AU 3 132380880 132380880 single base substitution T C upstream_gene_variant PACA-AU 3 132381274 132381274 single base substitution A G downstream_gene_variant PACA-AU 3 132381274 132381274 single base substitution A G intron_variant PACA-AU 3 132381274 132381274 single base substitution A G upstream_gene_variant PACA-AU 3 132385266 132385266 single base substitution A G downstream_gene_variant PACA-AU 3 132385266 132385266 single base substitution A G intron_variant PACA-AU 3 132385266 132385266 single base substitution A G upstream_gene_variant PACA-AU 3 132387617 132387617 insertion of <=200bp - T downstream_gene_variant PACA-AU 3 132387617 132387617 insertion of <=200bp - T exon_variant PACA-AU 3 132387617 132387617 insertion of <=200bp - T intron_variant PACA-AU 3 132387617 132387617 insertion of <=200bp - T upstream_gene_variant PACA-AU 3 132388170 132388170 single base substitution G T downstream_gene_variant PACA-AU 3 132388170 132388170 single base substitution G T intron_variant PACA-AU 3 132388170 132388170 single base substitution G T upstream_gene_variant PACA-AU 3 132388878 132388878 deletion of <=200bp T - downstream_gene_variant PACA-AU 3 132388878 132388878 deletion of <=200bp T - intron_variant PACA-AU 3 132388878 132388878 deletion of <=200bp T - upstream_gene_variant PACA-AU 3 132392542 132392542 single base substitution T C downstream_gene_variant PACA-AU 3 132392542 132392542 single base substitution T C intron_variant PACA-AU 3 132392542 132392542 single base substitution T C upstream_gene_variant PACA-AU 3 132393068 132393068 deletion of <=200bp T - downstream_gene_variant PACA-AU 3 132393068 132393068 deletion of <=200bp T - intron_variant PACA-AU 3 132393068 132393068 deletion of <=200bp T - upstream_gene_variant PACA-AU 3 132394647 132394647 single base substitution G C downstream_gene_variant PACA-AU 3 132394647 132394647 single base substitution G C intron_variant PACA-AU 3 132395380 132395380 single base substitution T G 3_prime_UTR_variant PACA-AU 3 132395380 132395380 single base substitution T G downstream_gene_variant PACA-AU 3 132395380 132395380 single base substitution T G exon_variant PACA-AU 3 132395380 132395380 single base substitution T G intron_variant PACA-AU 3 132396782 132396782 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 3 132396782 132396782 deletion of <=200bp A - downstream_gene_variant PACA-AU 3 132399123 132399123 single base substitution G A downstream_gene_variant PACA-AU 3 132399159 132399159 single base substitution C T downstream_gene_variant PACA-AU 3 132401669 132401672 deletion of <=200bp AAAA - downstream_gene_variant PACA-CA 3 132371776 132371776 single base substitution C T upstream_gene_variant PACA-CA 3 132375591 132375591 single base substitution C T intron_variant PACA-CA 3 132375591 132375591 single base substitution C T upstream_gene_variant PACA-CA 3 132376533 132376533 single base substitution A G intron_variant PACA-CA 3 132376533 132376533 single base substitution A G upstream_gene_variant PACA-CA 3 132377320 132377320 single base substitution G A intron_variant PACA-CA 3 132377320 132377320 single base substitution G A upstream_gene_variant PACA-CA 3 132380594 132380594 single base substitution T C downstream_gene_variant PACA-CA 3 132380594 132380594 single base substitution T C intron_variant PACA-CA 3 132380594 132380594 single base substitution T C upstream_gene_variant PACA-CA 3 132380616 132380616 single base substitution A G downstream_gene_variant PACA-CA 3 132380616 132380616 single base substitution A G intron_variant PACA-CA 3 132380616 132380616 single base substitution A G upstream_gene_variant PACA-CA 3 132387854 132387854 single base substitution A T downstream_gene_variant PACA-CA 3 132387854 132387854 single base substitution A T intron_variant PACA-CA 3 132387854 132387854 single base substitution A T upstream_gene_variant PACA-CA 3 132389136 132389136 single base substitution T G downstream_gene_variant PACA-CA 3 132389136 132389136 single base substitution T G splice_region_variant PACA-CA 3 132389136 132389136 single base substitution T G upstream_gene_variant PACA-CA 3 132396674 132396674 single base substitution A C 3_prime_UTR_variant PACA-CA 3 132396674 132396674 single base substitution A C downstream_gene_variant PACA-CA 3 132398971 132398971 single base substitution C T downstream_gene_variant PAEN-IT 3 132392923 132392923 single base substitution T C downstream_gene_variant PAEN-IT 3 132392923 132392923 single base substitution T C intron_variant PAEN-IT 3 132392923 132392923 single base substitution T C upstream_gene_variant PAEN-IT 3 132400646 132400646 single base substitution C T downstream_gene_variant PBCA-DE 3 132370073 132370073 single base substitution C A upstream_gene_variant PBCA-DE 3 132379113 132379113 single base substitution C T 5_prime_UTR_variant PBCA-DE 3 132379113 132379113 single base substitution C T exon_variant PBCA-DE 3 132379113 132379113 single base substitution C T intron_variant PBCA-DE 3 132379113 132379113 single base substitution C T upstream_gene_variant PBCA-DE 3 132384845 132384845 single base substitution C T exon_variant PBCA-DE 3 132384845 132384845 single base substitution C T intron_variant PBCA-DE 3 132384845 132384845 single base substitution C T synonymous_variant A19A 57C>T PBCA-DE 3 132384845 132384845 single base substitution C T synonymous_variant A75A 225C>T PBCA-DE 3 132384845 132384845 single base substitution C T upstream_gene_variant PBCA-DE 3 132393983 132393983 insertion of <=200bp - A downstream_gene_variant PBCA-DE 3 132393983 132393983 insertion of <=200bp - A intron_variant PBCA-DE 3 132393983 132393983 insertion of <=200bp - A upstream_gene_variant PBCA-DE 3 132398112 132398112 deletion of <=200bp A - downstream_gene_variant PRAD-CA 3 132384119 132384119 single base substitution T G downstream_gene_variant PRAD-CA 3 132384119 132384119 single base substitution T G intron_variant PRAD-CA 3 132384119 132384119 single base substitution T G upstream_gene_variant PRAD-CA 3 132389900 132389900 single base substitution A G downstream_gene_variant PRAD-CA 3 132389900 132389900 single base substitution A G intron_variant PRAD-CA 3 132389900 132389900 single base substitution A G splice_region_variant PRAD-CA 3 132389900 132389900 single base substitution A G upstream_gene_variant PRAD-UK 3 132378948 132378948 deletion of <=200bp C - 5_prime_UTR_variant PRAD-UK 3 132378948 132378948 deletion of <=200bp C - intron_variant PRAD-UK 3 132378948 132378948 deletion of <=200bp C - upstream_gene_variant PRAD-UK 3 132384288 132384288 single base substitution C T downstream_gene_variant PRAD-UK 3 132384288 132384288 single base substitution C T intron_variant PRAD-UK 3 132384288 132384288 single base substitution C T upstream_gene_variant PRAD-UK 3 132389857 132389865 deletion of <=200bp TGTGGACAA - 3_prime_UTR_variant PRAD-UK 3 132389857 132389865 deletion of <=200bp TGTGGACAA - downstream_gene_variant PRAD-UK 3 132389857 132389865 deletion of <=200bp TGTGGACAA - exon_variant PRAD-UK 3 132389857 132389865 deletion of <=200bp TGTGGACAA - inframe_deletion CVDN125C PRAD-UK 3 132389857 132389865 deletion of <=200bp TGTGGACAA - inframe_deletion CVDN181C PRAD-UK 3 132389857 132389865 deletion of <=200bp TGTGGACAA - inframe_deletion CVDN91C PRAD-UK 3 132389857 132389865 deletion of <=200bp TGTGGACAA - upstream_gene_variant PRAD-UK 3 132400371 132400371 single base substitution C G downstream_gene_variant PRAD-US 3 132394111 132394111 single base substitution A T downstream_gene_variant PRAD-US 3 132394111 132394111 single base substitution A T exon_variant PRAD-US 3 132394111 132394111 single base substitution A T missense_variant T222S 664A>T PRAD-US 3 132394111 132394111 single base substitution A T missense_variant T278S 832A>T PRAD-US 3 132394111 132394111 single base substitution A T upstream_gene_variant READ-US 3 132389070 132389070 single base substitution G A 3_prime_UTR_variant READ-US 3 132389070 132389070 single base substitution G A downstream_gene_variant READ-US 3 132389070 132389070 single base substitution G A exon_variant READ-US 3 132389070 132389070 single base substitution G A missense_variant V146I 436G>A READ-US 3 132389070 132389070 single base substitution G A missense_variant V56I 166G>A READ-US 3 132389070 132389070 single base substitution G A missense_variant V90I 268G>A READ-US 3 132389070 132389070 single base substitution G A upstream_gene_variant RECA-EU 3 132372693 132372693 single base substitution C T upstream_gene_variant RECA-EU 3 132383159 132383159 single base substitution C T downstream_gene_variant RECA-EU 3 132383159 132383159 single base substitution C T intron_variant RECA-EU 3 132383159 132383159 single base substitution C T upstream_gene_variant RECA-EU 3 132389931 132389931 single base substitution T C downstream_gene_variant RECA-EU 3 132389931 132389931 single base substitution T C intron_variant RECA-EU 3 132389931 132389931 single base substitution T C upstream_gene_variant SKCA-BR 3 132369121 132369121 single base substitution T A upstream_gene_variant SKCA-BR 3 132369126 132369126 single base substitution A C upstream_gene_variant SKCA-BR 3 132372349 132372349 single base substitution C T upstream_gene_variant SKCA-BR 3 132373533 132373533 single base substitution G A intron_variant SKCA-BR 3 132373533 132373533 single base substitution G A upstream_gene_variant SKCA-BR 3 132375339 132375339 insertion of <=200bp - AT intron_variant SKCA-BR 3 132375339 132375339 insertion of <=200bp - ATT intron_variant SKCA-BR 3 132375339 132375339 insertion of <=200bp - ATT upstream_gene_variant SKCA-BR 3 132375339 132375339 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 3 132384839 132384839 single base substitution C A exon_variant SKCA-BR 3 132384839 132384839 single base substitution C A intron_variant SKCA-BR 3 132384839 132384839 single base substitution C A synonymous_variant T17T 51C>A SKCA-BR 3 132384839 132384839 single base substitution C A synonymous_variant T73T 219C>A SKCA-BR 3 132384839 132384839 single base substitution C A upstream_gene_variant SKCM-US 3 132379489 132379489 deletion of <=200bp C - 5_prime_UTR_variant SKCM-US 3 132379489 132379489 deletion of <=200bp C - exon_variant SKCM-US 3 132379489 132379489 deletion of <=200bp C - frameshift_variant G36 SKCM-US 3 132379489 132379489 deletion of <=200bp C - intron_variant SKCM-US 3 132379489 132379489 deletion of <=200bp C - upstream_gene_variant SKCM-US 3 132384834 132384834 single base substitution C T exon_variant SKCM-US 3 132384834 132384834 single base substitution C T intron_variant SKCM-US 3 132384834 132384834 single base substitution C T missense_variant R16C 46C>T SKCM-US 3 132384834 132384834 single base substitution C T missense_variant R72C 214C>T SKCM-US 3 132384834 132384834 single base substitution C T upstream_gene_variant SKCM-US 3 132389843 132389843 single base substitution C T 3_prime_UTR_variant SKCM-US 3 132389843 132389843 single base substitution C T downstream_gene_variant SKCM-US 3 132389843 132389843 single base substitution C T exon_variant SKCM-US 3 132389843 132389843 single base substitution C T synonymous_variant L121L 361C>T SKCM-US 3 132389843 132389843 single base substitution C T synonymous_variant L177L 529C>T SKCM-US 3 132389843 132389843 single base substitution C T synonymous_variant L87L 259C>T SKCM-US 3 132389843 132389843 single base substitution C T upstream_gene_variant STAD-US 3 132387690 132387690 single base substitution A T downstream_gene_variant STAD-US 3 132387690 132387690 single base substitution A T exon_variant STAD-US 3 132387690 132387690 single base substitution A T missense_variant E109V 326A>T STAD-US 3 132387690 132387690 single base substitution A T missense_variant E19V 56A>T STAD-US 3 132387690 132387690 single base substitution A T missense_variant E53V 158A>T STAD-US 3 132387690 132387690 single base substitution A T upstream_gene_variant STAD-US 3 132394093 132394093 single base substitution T G downstream_gene_variant STAD-US 3 132394093 132394093 single base substitution T G missense_variant F216V 646T>G STAD-US 3 132394093 132394093 single base substitution T G missense_variant F272V 814T>G STAD-US 3 132394093 132394093 single base substitution T G splice_region_variant STAD-US 3 132394093 132394093 single base substitution T G upstream_gene_variant STAD-US 3 132401613 132401613 single base substitution T C downstream_gene_variant UCEC-US 3 132378489 132378489 single base substitution A G 5_prime_UTR_variant UCEC-US 3 132378489 132378489 single base substitution A G intron_variant UCEC-US 3 132378489 132378489 single base substitution A G upstream_gene_variant UCEC-US 3 132379394 132379394 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 3 132379394 132379394 single base substitution G C exon_variant UCEC-US 3 132379394 132379394 single base substitution G C intron_variant UCEC-US 3 132379394 132379394 single base substitution G C missense_variant V5L 13G>C UCEC-US 3 132379394 132379394 single base substitution G C upstream_gene_variant UCEC-US 3 132387767 132387767 single base substitution C A 3_prime_UTR_variant UCEC-US 3 132387767 132387767 single base substitution C A downstream_gene_variant UCEC-US 3 132387767 132387767 single base substitution C A exon_variant UCEC-US 3 132387767 132387767 single base substitution C A missense_variant L135M 403C>A UCEC-US 3 132387767 132387767 single base substitution C A missense_variant L45M 133C>A UCEC-US 3 132387767 132387767 single base substitution C A missense_variant L79M 235C>A UCEC-US 3 132387767 132387767 single base substitution C A upstream_gene_variant UCEC-US 3 132390941 132390941 single base substitution G T downstream_gene_variant UCEC-US 3 132390941 132390941 single base substitution G T exon_variant UCEC-US 3 132390941 132390941 single base substitution G T synonymous_variant L188L 564G>T UCEC-US 3 132390941 132390941 single base substitution G T synonymous_variant L244L 732G>T UCEC-US 3 132390941 132390941 single base substitution G T upstream_gene_variant UCEC-US 3 132394464 132394464 single base substitution C T downstream_gene_variant UCEC-US 3 132394464 132394464 single base substitution C T exon_variant UCEC-US 3 132394464 132394464 single base substitution C T synonymous_variant L266L 796C>T UCEC-US 3 132394464 132394464 single base substitution C T synonymous_variant L322L 964C>T UCEC-US 3 132394502 132394502 single base substitution A G downstream_gene_variant UCEC-US 3 132394502 132394502 single base substitution A G exon_variant UCEC-US 3 132394502 132394502 single base substitution A G missense_variant I278M 834A>G UCEC-US 3 132394502 132394502 single base substitution A G missense_variant I334M 1002A>G UCEC-US 3 132400777 132400777 single base substitution A G downstream_gene_variant UCEC-US 3 132400859 132400859 single base substitution T A downstream_gene_variant UCEC-US 3 132400931 132400931 single base substitution A G downstream_gene_variant UCEC-US 3 132401596 132401596 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 TCGA-BS-A0UA-01 COSM1038486 c.964C>T p.L322L Substitution - coding silent 3:132675620-132675620 + TCGA-B0-5075-01 COSM479439 c.334A>G p.N112D Substitution - Missense 3:132668854-132668854 + TCGA-BS-A0UM-01 COSM1038488 c.1004T>C p.I335T Substitution - Missense 3:132675660-132675660 + PTC-14C COSM4157275 c.531A>T p.L177L Substitution - coding silent 3:132671001-132671001 + TCGA-EI-6917-01 COSM3427091 c.436G>A p.V146I Substitution - Missense 3:132670226-132670226 + TCGA-B5-A0JV-01 COSM1038483 c.417T>G p.N139K Substitution - Missense 3:132670207-132670207 + ESO-164 COSM1269604 c.407+1G>C p.? Unknown 3:132668928-132668928 + HT115 COSM3122062 c.574A>C p.N192H Substitution - Missense 3:132671044-132671044 + LC_C18 COSM1190748 c.484delG p.D162fs*3 Deletion - Frameshift 3:132670274-132670274 + I2L-P19Tb-Tumor-Biopsy COSM5355010 c.649delC p.Q217fs*3 Deletion - Frameshift 3:132671846-132671846 + TCGA-CH-5762-01 COSM1471577 c.832A>T p.T278S Substitution - Missense 3:132675267-132675267 + SC_9061 COSM5562263 c.1079C>G p.P360R Substitution - Missense 3:132675871-132675871 + TCGA-AA-3930-01 COSM296642 c.614C>A p.S205Y Substitution - Missense 3:132671811-132671811 + CHC1148T COSM4954803 c.38A>G p.Q13R Substitution - Missense 3:132660575-132660575 + TCGA-B5-A11E-01 COSM1038487 c.1002A>G p.I334M Substitution - Missense 3:132675658-132675658 + RK126_C01 COSM1632836 c.1194G>A p.M398I Substitution - Missense 3:132676505-132676505 + CSCC-56-T COSM4520776 c.1075G>A p.G359S Substitution - Missense 3:132675867-132675867 + YUMER COSM1693482 c.422A>T p.D141V Substitution - Missense 3:132670212-132670212 + PD4122a COSM166263 c.409delA p.N137fs*15 Deletion - Frameshift 3:132670199-132670199 + BD124T COSM5491715 c.291T>C p.I97I Substitution - coding silent 3:132666067-132666067 + TCGA-LP-A4AV-01 COSM4825260 c.1215G>C p.*405Y Nonstop extension 3:132676526-132676526 + TCGA-CJ-5678-01 COSM479440 c.398A>G p.H133R Substitution - Missense 3:132668918-132668918 + TCGA-B5-A0JZ-01 COSM1038486 c.964C>T p.L322L Substitution - coding silent 3:132675620-132675620 + T10 COSM5617730 c.158A>G p.Y53C Substitution - Missense 3:132660695-132660695 + TCGA-HU-A4GU-01 COSM4113646 c.814T>G p.F272V Substitution - Missense 3:132675249-132675249 + Gp5D COSM3122057 c.464A>G p.E155G Substitution - Missense 3:132670254-132670254 + TCGA-D5-6928-01 COSM1419099 c.66G>T p.E22D Substitution - Missense 3:132660603-132660603 + WA22 COSM238392 c.408-5C>G p.? Unknown 3:132670193-132670193 + TCGA-CW-5585-01 COSM479441 c.481A>G p.M161V Substitution - Missense 3:132670271-132670271 + I2L-P19Tb-Tumor-Organoid COSM5355010 c.649delC p.Q217fs*3 Deletion - Frameshift 3:132671846-132671846 + 37M COSM5584225 c.502G>T p.G168W Substitution - Missense 3:132670972-132670972 + PD4958a COSM5788220 c.90C>T p.S30S Substitution - coding silent 3:132660627-132660627 + LS411 COSM3122061 c.507_509delAGA p.E171delE Deletion - In frame 3:132670977-132670979 + TCGA-ER-A194-01 COSM3587602 c.529C>T p.L177L Substitution - coding silent 3:132670999-132670999 + LAU165 COSM233697 c.1054G>A p.E352K Substitution - Missense 3:132675846-132675846 + HN_62338 COSM130028 c.257G>A p.S86N Substitution - Missense 3:132666033-132666033 + PTC-28C COSM4157277 c.683C>T p.A228V Substitution - Missense 3:132671880-132671880 + TCGA-BR-4368-01 COSM4113645 c.326A>T p.E109V Substitution - Missense 3:132668846-132668846 + XHDG20 COSM4768814 c.1035G>C p.L345L Substitution - coding silent 3:132675827-132675827 + CHC1148T COSM4954803 c.38A>G p.Q13R Substitution - Missense 3:132660575-132660575 + 0081_CRUK_PC_0081_T1_DNA COSM5421973 c.543_551delTGTGGACAA p.V182_N184delVDN Deletion - In frame 3:132671013-132671021 + TCGA-AP-A059-01 COSM1038484 c.732G>T p.L244L Substitution - coding silent 3:132672097-132672097 + T1154 COSM4738587 c.225C>T p.A75A Substitution - coding silent 3:132666001-132666001 + TCGA-41-3393-01 COSM3408246 c.654T>C p.L218L Substitution - coding silent 3:132671851-132671851 + CSCC-55-T COSM4571884 c.56T>A p.L19H Substitution - Missense 3:132660593-132660593 + TCGA-CA-6717-01 COSM1419101 c.199G>A p.D67N Substitution - Missense 3:132665860-132665860 + PTC-14C COSM4157276 c.532G>T p.V178F Substitution - Missense 3:132671002-132671002 + TCGA-E9-A3X8-01 COSM3846249 c.504G>C p.G168G Substitution - coding silent 3:132670974-132670974 + TCGA-GL-A59T-01 COSM3992745 c.137A>T p.E46V Substitution - Missense 3:132660674-132660674 + 417 COSM4431712 c.1049C>G p.S350* Substitution - Nonsense 3:132675841-132675841 + PD4935a COSM165360 c.1030G>C p.E344Q Substitution - Missense 3:132675822-132675822 + C91 COSM4444883 c.736C>T p.R246* Substitution - Nonsense 3:132672101-132672101 + TCGA-AC-A23H-01 COSM3846248 c.405G>A p.L135L Substitution - coding silent 3:132668925-132668925 + PD2170a COSM26620 c.551A>G p.N184S Substitution - Missense 3:132671021-132671021 + TCGA-B5-A11H-01 COSM1038486 c.964C>T p.L322L Substitution - coding silent 3:132675620-132675620 + PD11357a COSM5767111 c.22C>T p.L8L Substitution - coding silent 3:132660559-132660559 + CPCG0412-F1 COSM4880772 c.579+7A>G p.? Unknown 3:132671056-132671056 + TCGA-BS-A0UF-01 COSM1038482 c.403C>A p.L135M Substitution - Missense 3:132668923-132668923 + PT42 COSM5925081 c.662C>T p.P221L Substitution - Missense 3:132671859-132671859 + LC_S10 COSM1191013 c.1122_1123insT p.P375fs*10 Insertion - Frameshift 3:132675914-132675915 + TCGA-B5-A0JT-01 COSM1038481 c.13G>C p.V5L Substitution - Missense 3:132660550-132660550 + CHC303T COSM4950550 c.298-2A>G p.? Unknown 3:132668816-132668816 + T2269 COSM4738588 c.726G>T p.K242N Substitution - Missense 3:132672091-132672091 + TCGA-D1-A17U-01 COSM1038485 c.877C>T p.P293S Substitution - Missense 3:132675312-132675312 + T3090 COSM4738586 c.198C>T p.S66S Substitution - coding silent 3:132665859-132665859 + CHC303T COSM4950550 c.298-2A>G p.? Unknown 3:132668816-132668816 + DLD1 COSM4624972 c.652C>A p.L218I Substitution - Missense 3:132671849-132671849 + PCSI_0037_Pa_X COSM3380398 c.494+8T>G p.? Unknown 3:132670292-132670292 + TCGA-AQ-A04J-01 COSM445611 c.50G>A p.R17Q Substitution - Missense 3:132660587-132660587 + CHC313T COSM4949912 c.1169C>G p.S390C Substitution - Missense 3:132676480-132676480 + TCGA-D3-A5GU-06 COSM3122055 c.214C>T p.R72C Substitution - Missense 3:132665990-132665990 + CHC313T COSM4949912 c.1169C>G p.S390C Substitution - Missense 3:132676480-132676480 + BD121T COSM5514957 c.394G>A p.E132K Substitution - Missense 3:132668914-132668914 + T368 COSM4738589 c.1131+2T>C p.? Unknown 3:132675925-132675925 + ESCC_25 COSM5626849 c.341A>G p.N114S Substitution - Missense 3:132668861-132668861 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.170681;Hs.170701;Hs.170718;Hs.170719;Hs.170726;Hs.170737 3q22.1 610552

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.N137Tfs*15 c.410delA 3 132389043 BRCA A G Missense p.H133R c.398A>G 3 132387762 RCCC A G Missense p.M161V c.481A>G 3 132389115 RCCC A G Missense p.N112D c.334A>G 3 132387698 RCCC A T Missense p.E109V c.326A>T 3 132387690 STAD A T Missense p.T278S c.832A>T 3 132394111 PRAD C A Missense p.S205Y c.614C>A 3 132390655 COREAD C - Frameshift p.R37Gfs*7 c.109delC 3 132379489 CM C G Missense p.P362A c.1084C>G 3 132394720 HNSC C T Synonymous p.L177L c.529C>T 3 132389843 CM C T Synonymous p.L322L c.964C>T 3 132394464 UCEC G A Missense p.M398I c.1194G>A 3 132395349 HC G A Missense p.R17Q c.50G>A 3 132379431 BRCA G A Missense p.S86N c.257G>A 3 132384877 HNSC G C Missense p.E344Q c.1030G>C 3 132394666 BRCA G C Missense p.V5L c.13G>C 3 132379394 UCEC G C SpliceDonorSNV . c.407+1G>C 3 132387772 ESCA T A Missense p.F118I c.352T>A 3 132387716 HNSC T A Missense p.F276I c.826T>A 3 132394105 COREAD T C Synonymous p.L218L c.654T>C 3 132390695 GBM T - IntronicDeletion . c.685-26delT 3 132390860 STAD