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 14 20781943 20781943 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr14:20781943G>C c.315C>G c.(313-315)ctC>ctG p.L105L BRCA 14 20781842 20781842 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr14:20781842A>G c.416T>C c.(415-417)aTg>aCg p.M139T BRCA 14 20784645 20784645 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr14:20784645C>T c.38G>A c.(37-39)cGa>cAa p.R13Q COAD 14 20779716 20779716 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr14:20779716C>A c.827G>T c.(826-828)aGa>aTa p.R276I COAD 14 20781754 20781754 + Silent SNP A A G TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chr14:20781754A>G c.504T>C c.(502-504)aaT>aaC p.N168N COAD 14 20781756 20781756 + Missense_Mutation SNP T T C TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr14:20781756T>C c.502A>G c.(502-504)Aat>Gat p.N168D COAD 14 20781759 20781759 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr14:20781759G>A c.499C>T c.(499-501)Cgc>Tgc p.R167C COAD 14 20781828 20781828 + Missense_Mutation SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr14:20781828T>C c.430A>G c.(430-432)Acc>Gcc p.T144A COAD 14 20784403 20784403 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr14:20784403C>T c.280G>A c.(280-282)Gcc>Acc p.A94T COAD 14 20784443 20784443 + Silent SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr14:20784443C>T c.240G>A c.(238-240)ctG>ctA p.L80L COAD 14 20784495 20784495 + Missense_Mutation SNP C C T TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr14:20784495C>T c.188G>A c.(187-189)cGc>cAc p.R63H COADREAD 14 20779716 20779716 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr14:20779716C>A c.827G>T c.(826-828)aGa>aTa p.R276I COADREAD 14 20781754 20781754 + Silent SNP A A G TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chr14:20781754A>G c.504T>C c.(502-504)aaT>aaC p.N168N COADREAD 14 20781756 20781756 + Missense_Mutation SNP T T C TCGA-DM-A28G-01A-11D-A16V-10 TCGA-DM-A28G-10A-01D-A16V-10 g.chr14:20781756T>C c.502A>G c.(502-504)Aat>Gat p.N168D COADREAD 14 20781759 20781759 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr14:20781759G>A c.499C>T c.(499-501)Cgc>Tgc p.R167C COADREAD 14 20781828 20781828 + Missense_Mutation SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr14:20781828T>C c.430A>G c.(430-432)Acc>Gcc p.T144A COADREAD 14 20784386 20784386 + Splice_Site SNP C C A TCGA-AH-6644-01A-21D-1826-10 TCGA-AH-6644-10A-01D-1826-10 g.chr14:20784386C>A c.297G>T c.(295-297)caG>caT p.Q99H COADREAD 14 20784403 20784403 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr14:20784403C>T c.280G>A c.(280-282)Gcc>Acc p.A94T COADREAD 14 20784443 20784443 + Silent SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr14:20784443C>T c.240G>A c.(238-240)ctG>ctA p.L80L COADREAD 14 20784495 20784495 + Missense_Mutation SNP C C T TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr14:20784495C>T c.188G>A c.(187-189)cGc>cAc p.R63H ESCA 14 20779823 20779823 + Silent SNP C C A TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr14:20779823C>A c.720G>T c.(718-720)gcG>gcT p.A240A GBMLGG 14 20779861 20779861 + Missense_Mutation SNP C C T TCGA-FG-6690-01A-11D-1893-08 TCGA-FG-6690-10A-01D-1893-08 g.chr14:20779861C>T c.682G>A c.(682-684)Gat>Aat p.D228N GBMLGG 14 20779890 20779890 + Missense_Mutation SNP A A G TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 g.chr14:20779890A>G c.653T>C c.(652-654)tTg>tCg p.L218S GBMLGG 14 20784616 20784616 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:20784616C>A c.67G>T c.(67-69)Gca>Tca p.A23S HNSC 14 20779857 20779857 + Missense_Mutation SNP C C A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr14:20779857C>A c.686G>T c.(685-687)gGa>gTa p.G229V HNSC 14 20779905 20779905 + Missense_Mutation SNP T T C TCGA-CQ-5325-01A-01D-1683-08 TCGA-CQ-5325-10A-01D-1683-08 g.chr14:20779905T>C c.638A>G c.(637-639)aAc>aGc p.N213S HNSC 14 20781866 20781866 + Missense_Mutation SNP C C G TCGA-F7-7848-01A-11D-2129-08 TCGA-F7-7848-10A-01D-2129-08 g.chr14:20781866C>G c.392G>C c.(391-393)aGc>aCc p.S131T HNSC 14 20781879 20781879 + Nonsense_Mutation SNP G G A TCGA-CN-5370-01A-01D-2012-08 TCGA-CN-5370-10A-01D-2013-08 g.chr14:20781879G>A c.379C>T c.(379-381)Cag>Tag p.Q127* HNSC 14 20781915 20781915 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr14:20781915C>G c.343G>C c.(343-345)Gag>Cag p.E115Q HNSC 14 20784496 20784496 + Missense_Mutation SNP G G A TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 g.chr14:20784496G>A c.187C>T c.(187-189)Cgc>Tgc p.R63C KIPAN 14 20779855 20779855 + Missense_Mutation SNP C C T TCGA-A3-3357-01A-02D-1421-08 TCGA-A3-3357-11A-01D-1421-08 g.chr14:20779855C>T c.688G>A c.(688-690)Gat>Aat p.D230N KIRC 14 20779855 20779855 + Missense_Mutation SNP C C T TCGA-A3-3357-01A-02D-1421-08 TCGA-A3-3357-11A-01D-1421-08 g.chr14:20779855C>T c.688G>A c.(688-690)Gat>Aat p.D230N LGG 14 20779861 20779861 + Missense_Mutation SNP C C T TCGA-FG-6690-01A-11D-1893-08 TCGA-FG-6690-10A-01D-1893-08 g.chr14:20779861C>T c.682G>A c.(682-684)Gat>Aat p.D228N LGG 14 20779890 20779890 + Missense_Mutation SNP A A G TCGA-DB-A64L-01A-11D-A29Q-08 TCGA-DB-A64L-10A-01D-A29Q-08 g.chr14:20779890A>G c.653T>C c.(652-654)tTg>tCg p.L218S LGG 14 20784616 20784616 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:20784616C>A c.67G>T c.(67-69)Gca>Tca p.A23S LIHC 14 20779825 20779826 + Frame_Shift_Ins INS - - A TCGA-DD-A116-01A-11D-A12Z-10 TCGA-DD-A116-10A-01D-A12Z-10 g.chr14:20779825_20779826insA c.717_718insT c.(715-720)tttgcgfs p.A240fs LUAD 14 20779813 20779813 + Missense_Mutation SNP T T A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr14:20779813T>A c.730A>T c.(730-732)Aca>Tca p.T244S LUAD 14 20779879 20779879 + Missense_Mutation SNP G G C TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr14:20779879G>C c.664C>G c.(664-666)Cct>Gct p.P222A LUAD 14 20781910 20781910 + Silent SNP G G A TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr14:20781910G>A c.348C>T c.(346-348)ggC>ggT p.G116G LUAD 14 20781943 20781943 + Silent SNP G G C TCGA-71-8520-01A-11D-2393-08 TCGA-71-8520-10A-01D-2393-08 g.chr14:20781943G>C c.315C>G c.(313-315)ctC>ctG p.L105L LUAD 14 20784496 20784496 + Missense_Mutation SNP G G A TCGA-50-5066-01A-01D-1625-08 TCGA-50-5066-10A-01D-1625-08 g.chr14:20784496G>A c.187C>T c.(187-189)Cgc>Tgc p.R63C LUAD 14 20784612 20784612 + Missense_Mutation SNP C C A TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr14:20784612C>A c.71G>T c.(70-72)tGg>tTg p.W24L OV 14 20781754 20781754 + Missense_Mutation SNP A A T TCGA-09-0369-01A-01W-0372-09 TCGA-09-0369-10C-01W-0372-09 g.chr14:20781754A>T c.504T>A c.(502-504)aaT>aaA p.N168K PAAD 14 20784609 20784609 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:20784609A>G c.74T>C c.(73-75)gTc>gCc p.V25A PRAD 14 20781932 20781932 + Missense_Mutation SNP T T C TCGA-KK-A8IL-01A-11D-A364-08 TCGA-KK-A8IL-11A-11D-A362-08 g.chr14:20781932T>C c.326A>G c.(325-327)tAc>tGc p.Y109C READ 14 20784386 20784386 + Splice_Site SNP C C A TCGA-AH-6644-01A-21D-1826-10 TCGA-AH-6644-10A-01D-1826-10 g.chr14:20784386C>A c.297G>T c.(295-297)caG>caT p.Q99H SKCM 14 20779823 20779823 + Silent SNP C C A TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr14:20779823C>A c.720G>T c.(718-720)gcG>gcT p.A240A SKCM 14 20781668 20781668 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:20781668G>A c.590C>T c.(589-591)cCa>cTa p.P197L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 14 20781943 20781943 single base substitution G C 3_prime_UTR_variant BLCA-US 14 20781943 20781943 single base substitution G C downstream_gene_variant BLCA-US 14 20781943 20781943 single base substitution G C synonymous_variant L105L 315C>G BRCA-EU 14 20775606 20775606 single base substitution A G downstream_gene_variant BRCA-EU 14 20775725 20775725 single base substitution A T downstream_gene_variant BRCA-EU 14 20777330 20777330 single base substitution G C downstream_gene_variant BRCA-EU 14 20780575 20780575 single base substitution A C downstream_gene_variant BRCA-EU 14 20780575 20780575 single base substitution A C intron_variant BRCA-EU 14 20780886 20780901 deletion of <=200bp GCAAGGCACCTAACAA - downstream_gene_variant BRCA-EU 14 20780886 20780901 deletion of <=200bp GCAAGGCACCTAACAA - intron_variant BRCA-EU 14 20781588 20781588 single base substitution G C downstream_gene_variant BRCA-EU 14 20781588 20781588 single base substitution G C intron_variant BRCA-EU 14 20782861 20782861 single base substitution G A downstream_gene_variant BRCA-EU 14 20782861 20782861 single base substitution G A intron_variant BRCA-EU 14 20782910 20782910 single base substitution T A downstream_gene_variant BRCA-EU 14 20782910 20782910 single base substitution T A intron_variant BRCA-EU 14 20783937 20783937 single base substitution T C downstream_gene_variant BRCA-EU 14 20783937 20783937 single base substitution T C intron_variant BRCA-EU 14 20783937 20783937 single base substitution T C splice_region_variant BRCA-EU 14 20784185 20784185 single base substitution G C downstream_gene_variant BRCA-EU 14 20784185 20784185 single base substitution G C intron_variant BRCA-EU 14 20786239 20786239 single base substitution A G downstream_gene_variant BRCA-EU 14 20786239 20786239 single base substitution A G intron_variant BRCA-EU 14 20786239 20786239 single base substitution A G upstream_gene_variant BRCA-EU 14 20786504 20786504 single base substitution C T 5_prime_UTR_variant BRCA-EU 14 20786504 20786504 single base substitution C T downstream_gene_variant BRCA-EU 14 20786504 20786504 single base substitution C T intron_variant BRCA-EU 14 20786504 20786504 single base substitution C T upstream_gene_variant BRCA-EU 14 20786948 20786948 single base substitution G A downstream_gene_variant BRCA-EU 14 20786948 20786948 single base substitution G A intron_variant BRCA-EU 14 20786948 20786948 single base substitution G A upstream_gene_variant BRCA-EU 14 20789469 20789469 single base substitution A T downstream_gene_variant BRCA-EU 14 20789469 20789469 single base substitution A T intron_variant BRCA-EU 14 20789469 20789469 single base substitution A T upstream_gene_variant BRCA-EU 14 20789560 20789560 single base substitution G C downstream_gene_variant BRCA-EU 14 20789560 20789560 single base substitution G C intron_variant BRCA-EU 14 20789560 20789560 single base substitution G C upstream_gene_variant BRCA-EU 14 20789635 20789635 single base substitution G A downstream_gene_variant BRCA-EU 14 20789635 20789635 single base substitution G A intron_variant BRCA-EU 14 20790452 20790452 single base substitution C A downstream_gene_variant BRCA-EU 14 20790452 20790452 single base substitution C A intron_variant BRCA-EU 14 20792369 20792369 single base substitution G A downstream_gene_variant BRCA-EU 14 20792369 20792369 single base substitution G A intron_variant BRCA-EU 14 20792991 20792991 deletion of <=200bp T - downstream_gene_variant BRCA-EU 14 20792991 20792991 deletion of <=200bp T - intron_variant BRCA-EU 14 20794120 20794120 single base substitution C T intron_variant BRCA-EU 14 20794463 20794463 single base substitution G C intron_variant BRCA-EU 14 20794545 20794545 single base substitution A T intron_variant BRCA-EU 14 20795577 20795577 single base substitution T A intron_variant BRCA-EU 14 20796512 20796512 single base substitution A G intron_variant BRCA-EU 14 20798315 20798315 single base substitution A T intron_variant BRCA-EU 14 20798315 20798315 single base substitution A T upstream_gene_variant BRCA-EU 14 20799429 20799429 single base substitution G T intron_variant BRCA-EU 14 20799429 20799429 single base substitution G T upstream_gene_variant BRCA-EU 14 20802025 20802025 single base substitution G C upstream_gene_variant BRCA-EU 14 20802881 20802881 single base substitution T G upstream_gene_variant BRCA-EU 14 20804353 20804353 single base substitution T C upstream_gene_variant BRCA-EU 14 20804409 20804409 single base substitution G A upstream_gene_variant BRCA-EU 14 20805308 20805308 single base substitution C T upstream_gene_variant BRCA-EU 14 20805543 20805543 single base substitution A C upstream_gene_variant BRCA-FR 14 20781588 20781588 single base substitution G C downstream_gene_variant BRCA-FR 14 20781588 20781588 single base substitution G C intron_variant BRCA-FR 14 20784185 20784185 single base substitution G C downstream_gene_variant BRCA-FR 14 20784185 20784185 single base substitution G C intron_variant BRCA-FR 14 20786948 20786948 single base substitution G A downstream_gene_variant BRCA-FR 14 20786948 20786948 single base substitution G A intron_variant BRCA-FR 14 20786948 20786948 single base substitution G A upstream_gene_variant BRCA-FR 14 20789769 20789769 single base substitution C A downstream_gene_variant BRCA-FR 14 20789769 20789769 single base substitution C A intron_variant BRCA-FR 14 20790966 20790966 single base substitution G A downstream_gene_variant BRCA-FR 14 20790966 20790966 single base substitution G A intron_variant BRCA-FR 14 20798477 20798477 single base substitution G A intron_variant BRCA-FR 14 20798477 20798477 single base substitution G A upstream_gene_variant BRCA-FR 14 20799429 20799429 single base substitution G T intron_variant BRCA-FR 14 20799429 20799429 single base substitution G T upstream_gene_variant BRCA-UK 14 20783937 20783937 single base substitution T C downstream_gene_variant BRCA-UK 14 20783937 20783937 single base substitution T C intron_variant BRCA-UK 14 20783937 20783937 single base substitution T C splice_region_variant BRCA-UK 14 20789560 20789560 single base substitution G C downstream_gene_variant BRCA-UK 14 20789560 20789560 single base substitution G C intron_variant BRCA-UK 14 20789560 20789560 single base substitution G C upstream_gene_variant BRCA-UK 14 20798746 20798746 single base substitution G A exon_variant BRCA-UK 14 20798746 20798746 single base substitution G A intron_variant BRCA-UK 14 20798746 20798746 single base substitution G A upstream_gene_variant BRCA-US 14 20779538 20779538 single base substitution C T 3_prime_UTR_variant BRCA-US 14 20779538 20779538 single base substitution C T downstream_gene_variant BRCA-US 14 20781842 20781842 single base substitution A G 3_prime_UTR_variant BRCA-US 14 20781842 20781842 single base substitution A G downstream_gene_variant BRCA-US 14 20781842 20781842 single base substitution A G missense_variant M139T 416T>C BRCA-US 14 20784645 20784645 single base substitution C T downstream_gene_variant BRCA-US 14 20784645 20784645 single base substitution C T exon_variant BRCA-US 14 20784645 20784645 single base substitution C T missense_variant R13Q 38G>A BRCA-US 14 20784645 20784645 single base substitution C T missense_variant R44Q 131G>A BRCA-US 14 20784645 20784645 single base substitution C T upstream_gene_variant BTCA-JP 14 20779826 20779826 deletion of <=200bp A - downstream_gene_variant BTCA-JP 14 20779826 20779826 deletion of <=200bp A - frameshift_variant F239 BTCA-JP 14 20784132 20784132 single base substitution A T downstream_gene_variant BTCA-JP 14 20784132 20784132 single base substitution A T intron_variant BTCA-JP 14 20784645 20784645 single base substitution C T downstream_gene_variant BTCA-JP 14 20784645 20784645 single base substitution C T exon_variant BTCA-JP 14 20784645 20784645 single base substitution C T missense_variant R13Q 38G>A BTCA-JP 14 20784645 20784645 single base substitution C T missense_variant R44Q 131G>A BTCA-JP 14 20784645 20784645 single base substitution C T upstream_gene_variant BTCA-JP 14 20794775 20794775 single base substitution A T intron_variant CESC-US 14 20779661 20779661 single base substitution C G 3_prime_UTR_variant CESC-US 14 20779661 20779661 single base substitution C G downstream_gene_variant CLLE-ES 14 20783293 20783293 single base substitution A C downstream_gene_variant CLLE-ES 14 20783293 20783293 single base substitution A C intron_variant CLLE-ES 14 20802264 20802264 single base substitution A C upstream_gene_variant COAD-US 14 20779716 20779716 single base substitution C A downstream_gene_variant COAD-US 14 20779716 20779716 single base substitution C A missense_variant R276I 827G>T COAD-US 14 20781759 20781759 single base substitution G A 3_prime_UTR_variant COAD-US 14 20781759 20781759 single base substitution G A downstream_gene_variant COAD-US 14 20781759 20781759 single base substitution G A missense_variant R167C 499C>T COAD-US 14 20784403 20784403 single base substitution C T downstream_gene_variant COAD-US 14 20784403 20784403 single base substitution C T exon_variant COAD-US 14 20784403 20784403 single base substitution C T missense_variant A94T 280G>A COAD-US 14 20784495 20784495 single base substitution C T downstream_gene_variant COAD-US 14 20784495 20784495 single base substitution C T exon_variant COAD-US 14 20784495 20784495 single base substitution C T missense_variant R63H 188G>A COAD-US 14 20784495 20784495 single base substitution C T upstream_gene_variant COCA-CN 14 20779703 20779703 single base substitution C T 3_prime_UTR_variant COCA-CN 14 20779703 20779703 single base substitution C T downstream_gene_variant COCA-CN 14 20784718 20784718 single base substitution G T downstream_gene_variant COCA-CN 14 20784718 20784718 single base substitution G T missense_variant P20T 58C>A COCA-CN 14 20784718 20784718 single base substitution G T splice_region_variant COCA-CN 14 20784718 20784718 single base substitution G T upstream_gene_variant ESAD-UK 14 20775116 20775116 single base substitution G A downstream_gene_variant ESAD-UK 14 20782729 20782729 single base substitution A C 3_prime_UTR_variant ESAD-UK 14 20782729 20782729 single base substitution A C downstream_gene_variant ESAD-UK 14 20782729 20782729 single base substitution A C intron_variant ESAD-UK 14 20783543 20783543 single base substitution A C downstream_gene_variant ESAD-UK 14 20783543 20783543 single base substitution A C intron_variant ESAD-UK 14 20786854 20786854 single base substitution T C downstream_gene_variant ESAD-UK 14 20786854 20786854 single base substitution T C intron_variant ESAD-UK 14 20786854 20786854 single base substitution T C upstream_gene_variant ESAD-UK 14 20788435 20788457 deletion of <=200bp TGAATAACTTACAATAAGAGTTG - frameshift_variant QLLL16 ESAD-UK 14 20788435 20788457 deletion of <=200bp TGAATAACTTACAATAAGAGTTG - intron_variant ESAD-UK 14 20788435 20788457 deletion of <=200bp TGAATAACTTACAATAAGAGTTG - upstream_gene_variant ESAD-UK 14 20788686 20788686 single base substitution C T intron_variant ESAD-UK 14 20788686 20788686 single base substitution C T upstream_gene_variant ESAD-UK 14 20790242 20790242 single base substitution A G downstream_gene_variant ESAD-UK 14 20790242 20790242 single base substitution A G intron_variant ESAD-UK 14 20790244 20790244 single base substitution A T downstream_gene_variant ESAD-UK 14 20790244 20790244 single base substitution A T intron_variant ESAD-UK 14 20790528 20790528 insertion of <=200bp - T downstream_gene_variant ESAD-UK 14 20790528 20790528 insertion of <=200bp - T intron_variant ESAD-UK 14 20793950 20793950 single base substitution G C intron_variant ESAD-UK 14 20794001 20794001 single base substitution T C intron_variant ESAD-UK 14 20794463 20794463 single base substitution G T intron_variant ESAD-UK 14 20796607 20796607 single base substitution G T intron_variant ESAD-UK 14 20797390 20797390 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 14 20797390 20797390 single base substitution T C exon_variant ESAD-UK 14 20797390 20797390 single base substitution T C intron_variant ESAD-UK 14 20801349 20801349 single base substitution G A 5_prime_UTR_variant ESAD-UK 14 20801349 20801349 single base substitution G A exon_variant ESAD-UK 14 20801349 20801349 single base substitution G A intron_variant ESAD-UK 14 20801349 20801349 single base substitution G A upstream_gene_variant ESAD-UK 14 20805014 20805014 single base substitution G A upstream_gene_variant ESAD-UK 14 20805332 20805332 single base substitution A C upstream_gene_variant ESAD-UK 14 20806035 20806035 single base substitution C A upstream_gene_variant ESAD-UK 14 20806449 20806449 single base substitution C G upstream_gene_variant KIRC-US 14 20779855 20779855 single base substitution C T 3_prime_UTR_variant KIRC-US 14 20779855 20779855 single base substitution C T downstream_gene_variant KIRC-US 14 20779855 20779855 single base substitution C T missense_variant D230N 688G>A LAML-KR 14 20777811 20777811 single base substitution G T downstream_gene_variant LAML-KR 14 20778463 20778463 single base substitution A G downstream_gene_variant LAML-KR 14 20778569 20778569 single base substitution G A downstream_gene_variant LAML-KR 14 20779430 20779430 single base substitution T A downstream_gene_variant LAML-KR 14 20784718 20784718 single base substitution G T downstream_gene_variant LAML-KR 14 20784718 20784718 single base substitution G T missense_variant P20T 58C>A LAML-KR 14 20784718 20784718 single base substitution G T splice_region_variant LAML-KR 14 20784718 20784718 single base substitution G T upstream_gene_variant LGG-US 14 20779861 20779861 single base substitution C T 3_prime_UTR_variant LGG-US 14 20779861 20779861 single base substitution C T downstream_gene_variant LGG-US 14 20779861 20779861 single base substitution C T missense_variant D228N 682G>A LGG-US 14 20779890 20779890 single base substitution A G 3_prime_UTR_variant LGG-US 14 20779890 20779890 single base substitution A G downstream_gene_variant LGG-US 14 20779890 20779890 single base substitution A G missense_variant L218S 653T>C LICA-FR 14 20778496 20778496 single base substitution G A downstream_gene_variant LICA-FR 14 20781680 20781680 single base substitution C A 3_prime_UTR_variant LICA-FR 14 20781680 20781680 single base substitution C A downstream_gene_variant LICA-FR 14 20781680 20781680 single base substitution C A missense_variant G193V 578G>T LICA-FR 14 20788964 20788965 deletion of <=200bp AA - downstream_gene_variant LICA-FR 14 20788964 20788965 deletion of <=200bp AA - intron_variant LICA-FR 14 20788964 20788965 deletion of <=200bp AA - upstream_gene_variant LICA-FR 14 20796613 20796613 single base substitution A T intron_variant LICA-FR 14 20798278 20798278 deletion of <=200bp C - intron_variant LICA-FR 14 20798278 20798278 deletion of <=200bp C - upstream_gene_variant LICA-FR 14 20800246 20800246 single base substitution T C intron_variant LICA-FR 14 20800246 20800246 single base substitution T C upstream_gene_variant LICA-FR 14 20801933 20801933 single base substitution T A upstream_gene_variant LICA-FR 14 20803014 20803016 deletion of <=200bp AAA - upstream_gene_variant LIHC-US 14 20779825 20779825 insertion of <=200bp - A downstream_gene_variant LIHC-US 14 20779825 20779825 insertion of <=200bp - A frameshift_variant A240V? LIHC-US 14 20784551 20784551 single base substitution T C downstream_gene_variant LIHC-US 14 20784551 20784551 single base substitution T C exon_variant LIHC-US 14 20784551 20784551 single base substitution T C synonymous_variant S44S 132A>G LIHC-US 14 20784551 20784551 single base substitution T C upstream_gene_variant LINC-JP 14 20775238 20775238 single base substitution G A downstream_gene_variant LINC-JP 14 20779777 20779777 single base substitution C A downstream_gene_variant LINC-JP 14 20779777 20779777 single base substitution C A missense_variant V256F 766G>T LINC-JP 14 20781884 20781884 single base substitution T C 3_prime_UTR_variant LINC-JP 14 20781884 20781884 single base substitution T C downstream_gene_variant LINC-JP 14 20781884 20781884 single base substitution T C missense_variant Y125C 374A>G LINC-JP 14 20781885 20781885 single base substitution A G 3_prime_UTR_variant LINC-JP 14 20781885 20781885 single base substitution A G downstream_gene_variant LINC-JP 14 20781885 20781885 single base substitution A G missense_variant Y125H 373T>C LINC-JP 14 20788690 20788690 single base substitution T C intron_variant LINC-JP 14 20788690 20788690 single base substitution T C upstream_gene_variant LINC-JP 14 20792387 20792387 single base substitution C T downstream_gene_variant LINC-JP 14 20792387 20792387 single base substitution C T intron_variant LINC-JP 14 20794232 20794232 single base substitution T C intron_variant LINC-JP 14 20795341 20795341 single base substitution T C intron_variant LINC-JP 14 20798758 20798758 deletion of <=200bp T - exon_variant LINC-JP 14 20798758 20798758 deletion of <=200bp T - intron_variant LINC-JP 14 20798758 20798758 deletion of <=200bp T - upstream_gene_variant LIRI-JP 14 20775366 20775366 single base substitution C A downstream_gene_variant LIRI-JP 14 20775390 20775390 single base substitution A G downstream_gene_variant LIRI-JP 14 20780932 20780932 single base substitution T A downstream_gene_variant LIRI-JP 14 20780932 20780932 single base substitution T A intron_variant LIRI-JP 14 20781755 20781755 single base substitution T C 3_prime_UTR_variant LIRI-JP 14 20781755 20781755 single base substitution T C downstream_gene_variant LIRI-JP 14 20781755 20781755 single base substitution T C missense_variant N168S 503A>G LIRI-JP 14 20782730 20782730 single base substitution C T 3_prime_UTR_variant LIRI-JP 14 20782730 20782730 single base substitution C T downstream_gene_variant LIRI-JP 14 20782730 20782730 single base substitution C T intron_variant LIRI-JP 14 20784382 20784382 single base substitution T C downstream_gene_variant LIRI-JP 14 20784382 20784382 single base substitution T C intron_variant LIRI-JP 14 20784382 20784382 single base substitution T C splice_region_variant LIRI-JP 14 20784571 20784571 single base substitution T C downstream_gene_variant LIRI-JP 14 20784571 20784571 single base substitution T C exon_variant LIRI-JP 14 20784571 20784571 single base substitution T C missense_variant S38G 112A>G LIRI-JP 14 20784571 20784571 single base substitution T C upstream_gene_variant LIRI-JP 14 20784701 20784701 single base substitution C T 5_prime_UTR_variant LIRI-JP 14 20784701 20784701 single base substitution C T downstream_gene_variant LIRI-JP 14 20784701 20784701 single base substitution C T stop_gained W25* 75G>A LIRI-JP 14 20784701 20784701 single base substitution C T upstream_gene_variant LIRI-JP 14 20785046 20785046 single base substitution T C downstream_gene_variant LIRI-JP 14 20785046 20785046 single base substitution T C intron_variant LIRI-JP 14 20785046 20785046 single base substitution T C upstream_gene_variant LIRI-JP 14 20785941 20785941 single base substitution A C downstream_gene_variant LIRI-JP 14 20785941 20785941 single base substitution A C exon_variant LIRI-JP 14 20785941 20785941 single base substitution A C intron_variant LIRI-JP 14 20785941 20785941 single base substitution A C upstream_gene_variant LIRI-JP 14 20786627 20786627 single base substitution C T downstream_gene_variant LIRI-JP 14 20786627 20786627 single base substitution C T intron_variant LIRI-JP 14 20786627 20786627 single base substitution C T splice_region_variant LIRI-JP 14 20786627 20786627 single base substitution C T upstream_gene_variant LIRI-JP 14 20788571 20788571 deletion of <=200bp C - intron_variant LIRI-JP 14 20788571 20788571 deletion of <=200bp C - upstream_gene_variant LIRI-JP 14 20788793 20788793 single base substitution T C downstream_gene_variant LIRI-JP 14 20788793 20788793 single base substitution T C intron_variant LIRI-JP 14 20788793 20788793 single base substitution T C upstream_gene_variant LIRI-JP 14 20794987 20794987 single base substitution A T intron_variant LIRI-JP 14 20797934 20797934 single base substitution T C intron_variant LIRI-JP 14 20797934 20797934 single base substitution T C upstream_gene_variant LIRI-JP 14 20799040 20799040 single base substitution T C exon_variant LIRI-JP 14 20799040 20799040 single base substitution T C intron_variant LIRI-JP 14 20799040 20799040 single base substitution T C upstream_gene_variant LIRI-JP 14 20799185 20799185 single base substitution A G intron_variant LIRI-JP 14 20799185 20799185 single base substitution A G upstream_gene_variant LIRI-JP 14 20800249 20800249 single base substitution A C intron_variant LIRI-JP 14 20800249 20800249 single base substitution A C upstream_gene_variant LIRI-JP 14 20803506 20803506 single base substitution C T upstream_gene_variant LIRI-JP 14 20803540 20803540 single base substitution A C upstream_gene_variant LIRI-JP 14 20804665 20804665 single base substitution G T upstream_gene_variant LIRI-JP 14 20805631 20805631 single base substitution A G upstream_gene_variant LUSC-KR 14 20774728 20774728 single base substitution T C downstream_gene_variant LUSC-KR 14 20774795 20774795 single base substitution A T downstream_gene_variant LUSC-KR 14 20775288 20775288 single base substitution C A downstream_gene_variant LUSC-KR 14 20777811 20777811 single base substitution G T downstream_gene_variant LUSC-KR 14 20778427 20778427 single base substitution C T downstream_gene_variant LUSC-KR 14 20778438 20778438 single base substitution A G downstream_gene_variant LUSC-KR 14 20778447 20778447 single base substitution A G downstream_gene_variant LUSC-KR 14 20778463 20778463 single base substitution A G downstream_gene_variant LUSC-KR 14 20778546 20778546 single base substitution G T downstream_gene_variant LUSC-KR 14 20778569 20778569 single base substitution G A downstream_gene_variant LUSC-KR 14 20778778 20778778 single base substitution G A downstream_gene_variant LUSC-KR 14 20779263 20779263 single base substitution C T downstream_gene_variant LUSC-KR 14 20783269 20783269 single base substitution G A downstream_gene_variant LUSC-KR 14 20783269 20783269 single base substitution G A intron_variant LUSC-KR 14 20784431 20784431 single base substitution G A downstream_gene_variant LUSC-KR 14 20784431 20784431 single base substitution G A exon_variant LUSC-KR 14 20784431 20784431 single base substitution G A synonymous_variant I84I 252C>T LUSC-KR 14 20784431 20784431 single base substitution G A upstream_gene_variant LUSC-KR 14 20784718 20784718 single base substitution G T downstream_gene_variant LUSC-KR 14 20784718 20784718 single base substitution G T missense_variant P20T 58C>A LUSC-KR 14 20784718 20784718 single base substitution G T splice_region_variant LUSC-KR 14 20784718 20784718 single base substitution G T upstream_gene_variant LUSC-KR 14 20786061 20786061 single base substitution C A 5_prime_UTR_variant LUSC-KR 14 20786061 20786061 single base substitution C A downstream_gene_variant LUSC-KR 14 20786061 20786061 single base substitution C A exon_variant LUSC-KR 14 20786061 20786061 single base substitution C A intron_variant LUSC-KR 14 20786061 20786061 single base substitution C A upstream_gene_variant LUSC-KR 14 20786721 20786721 single base substitution T A downstream_gene_variant LUSC-KR 14 20786721 20786721 single base substitution T A intron_variant LUSC-KR 14 20786721 20786721 single base substitution T A upstream_gene_variant LUSC-KR 14 20797582 20797582 single base substitution G A intron_variant LUSC-KR 14 20797582 20797582 single base substitution G A upstream_gene_variant LUSC-KR 14 20799591 20799591 single base substitution G C intron_variant LUSC-KR 14 20799591 20799591 single base substitution G C upstream_gene_variant LUSC-KR 14 20801473 20801473 single base substitution T G upstream_gene_variant LUSC-KR 14 20803498 20803498 single base substitution C A upstream_gene_variant LUSC-KR 14 20804979 20804979 single base substitution T C upstream_gene_variant MALY-DE 14 20804460 20804460 single base substitution G T upstream_gene_variant MALY-DE 14 20806026 20806026 single base substitution T C upstream_gene_variant MELA-AU 14 20775573 20775573 single base substitution T C downstream_gene_variant MELA-AU 14 20775836 20775836 single base substitution T A downstream_gene_variant MELA-AU 14 20776338 20776338 single base substitution A C downstream_gene_variant MELA-AU 14 20776392 20776392 single base substitution A C downstream_gene_variant MELA-AU 14 20776486 20776486 single base substitution A T downstream_gene_variant MELA-AU 14 20776776 20776776 single base substitution G A downstream_gene_variant MELA-AU 14 20778088 20778088 single base substitution G A downstream_gene_variant MELA-AU 14 20778181 20778181 single base substitution C T downstream_gene_variant MELA-AU 14 20778315 20778315 single base substitution C T downstream_gene_variant MELA-AU 14 20778453 20778453 single base substitution G A downstream_gene_variant MELA-AU 14 20778804 20778804 single base substitution G A downstream_gene_variant MELA-AU 14 20779894 20779894 single base substitution G A 3_prime_UTR_variant MELA-AU 14 20779894 20779894 single base substitution G A downstream_gene_variant MELA-AU 14 20779894 20779894 single base substitution G A missense_variant P217S 649C>T MELA-AU 14 20780371 20780371 single base substitution A G downstream_gene_variant MELA-AU 14 20780371 20780371 single base substitution A G intron_variant MELA-AU 14 20781256 20781256 single base substitution T A downstream_gene_variant MELA-AU 14 20781256 20781256 single base substitution T A intron_variant MELA-AU 14 20782039 20782039 single base substitution G A downstream_gene_variant MELA-AU 14 20782039 20782039 single base substitution G A intron_variant MELA-AU 14 20782060 20782060 single base substitution G C downstream_gene_variant MELA-AU 14 20782060 20782060 single base substitution G C intron_variant MELA-AU 14 20782682 20782682 single base substitution G A 3_prime_UTR_variant MELA-AU 14 20782682 20782682 single base substitution G A downstream_gene_variant MELA-AU 14 20782682 20782682 single base substitution G A intron_variant MELA-AU 14 20782703 20782703 single base substitution G A 3_prime_UTR_variant MELA-AU 14 20782703 20782703 single base substitution G A downstream_gene_variant MELA-AU 14 20782703 20782703 single base substitution G A intron_variant MELA-AU 14 20782843 20782843 single base substitution G A downstream_gene_variant MELA-AU 14 20782843 20782843 single base substitution G A intron_variant MELA-AU 14 20782861 20782861 single base substitution G C downstream_gene_variant MELA-AU 14 20782861 20782861 single base substitution G C intron_variant MELA-AU 14 20782907 20782907 single base substitution G A downstream_gene_variant MELA-AU 14 20782907 20782907 single base substitution G A intron_variant MELA-AU 14 20782912 20782912 single base substitution A T downstream_gene_variant MELA-AU 14 20782912 20782912 single base substitution A T intron_variant MELA-AU 14 20783229 20783229 single base substitution A T downstream_gene_variant MELA-AU 14 20783229 20783229 single base substitution A T intron_variant MELA-AU 14 20783470 20783470 single base substitution G A downstream_gene_variant MELA-AU 14 20783470 20783470 single base substitution G A intron_variant MELA-AU 14 20783644 20783644 single base substitution C T downstream_gene_variant MELA-AU 14 20783644 20783644 single base substitution C T intron_variant MELA-AU 14 20783644 20783644 single base substitution C T splice_region_variant MELA-AU 14 20784042 20784042 single base substitution G A downstream_gene_variant MELA-AU 14 20784042 20784042 single base substitution G A intron_variant MELA-AU 14 20785352 20785352 single base substitution G T downstream_gene_variant MELA-AU 14 20785352 20785352 single base substitution G T intron_variant MELA-AU 14 20785352 20785352 single base substitution G T upstream_gene_variant MELA-AU 14 20785546 20785546 single base substitution G A downstream_gene_variant MELA-AU 14 20785546 20785546 single base substitution G A intron_variant MELA-AU 14 20785546 20785546 single base substitution G A upstream_gene_variant MELA-AU 14 20786344 20786344 single base substitution G A downstream_gene_variant MELA-AU 14 20786344 20786344 single base substitution G A intron_variant MELA-AU 14 20786344 20786344 single base substitution G A upstream_gene_variant MELA-AU 14 20786992 20786992 single base substitution G A downstream_gene_variant MELA-AU 14 20786992 20786992 single base substitution G A intron_variant MELA-AU 14 20786992 20786992 single base substitution G A upstream_gene_variant MELA-AU 14 20788198 20788198 single base substitution G A intron_variant MELA-AU 14 20788198 20788198 single base substitution G A upstream_gene_variant MELA-AU 14 20788575 20788575 single base substitution G A intron_variant MELA-AU 14 20788575 20788575 single base substitution G A upstream_gene_variant MELA-AU 14 20788723 20788723 single base substitution G A downstream_gene_variant MELA-AU 14 20788723 20788723 single base substitution G A intron_variant MELA-AU 14 20788723 20788723 single base substitution G A upstream_gene_variant MELA-AU 14 20788858 20788858 single base substitution G A downstream_gene_variant MELA-AU 14 20788858 20788858 single base substitution G A intron_variant MELA-AU 14 20788858 20788858 single base substitution G A upstream_gene_variant MELA-AU 14 20789200 20789200 single base substitution G A downstream_gene_variant MELA-AU 14 20789200 20789200 single base substitution G A intron_variant MELA-AU 14 20789200 20789200 single base substitution G A upstream_gene_variant MELA-AU 14 20789753 20789753 single base substitution G A downstream_gene_variant MELA-AU 14 20789753 20789753 single base substitution G A intron_variant MELA-AU 14 20789802 20789802 single base substitution G A downstream_gene_variant MELA-AU 14 20789802 20789802 single base substitution G A intron_variant MELA-AU 14 20790442 20790442 single base substitution A G downstream_gene_variant MELA-AU 14 20790442 20790442 single base substitution A G intron_variant MELA-AU 14 20790588 20790588 single base substitution G A downstream_gene_variant MELA-AU 14 20790588 20790588 single base substitution G A intron_variant MELA-AU 14 20790875 20790875 single base substitution G T downstream_gene_variant MELA-AU 14 20790875 20790875 single base substitution G T intron_variant MELA-AU 14 20791374 20791374 single base substitution G A downstream_gene_variant MELA-AU 14 20791374 20791374 single base substitution G A intron_variant MELA-AU 14 20792124 20792124 single base substitution G A downstream_gene_variant MELA-AU 14 20792124 20792124 single base substitution G A intron_variant MELA-AU 14 20792144 20792144 single base substitution G A downstream_gene_variant MELA-AU 14 20792144 20792144 single base substitution G A intron_variant MELA-AU 14 20792581 20792581 single base substitution G A downstream_gene_variant MELA-AU 14 20792581 20792581 single base substitution G A intron_variant MELA-AU 14 20792699 20792699 single base substitution T A downstream_gene_variant MELA-AU 14 20792699 20792699 single base substitution T A intron_variant MELA-AU 14 20792875 20792875 single base substitution A T downstream_gene_variant MELA-AU 14 20792875 20792875 single base substitution A T intron_variant MELA-AU 14 20793005 20793005 single base substitution G A downstream_gene_variant MELA-AU 14 20793005 20793005 single base substitution G A intron_variant MELA-AU 14 20793648 20793648 single base substitution C T downstream_gene_variant MELA-AU 14 20793648 20793648 single base substitution C T intron_variant MELA-AU 14 20793724 20793724 single base substitution T C 5_prime_UTR_variant MELA-AU 14 20793724 20793724 single base substitution T C downstream_gene_variant MELA-AU 14 20793724 20793724 single base substitution T C exon_variant MELA-AU 14 20793813 20793813 single base substitution C T splice_acceptor_variant MELA-AU 14 20794159 20794159 single base substitution A T intron_variant MELA-AU 14 20794207 20794207 single base substitution A C intron_variant MELA-AU 14 20795167 20795167 single base substitution C T intron_variant MELA-AU 14 20796038 20796038 single base substitution G A intron_variant MELA-AU 14 20797081 20797081 single base substitution C T intron_variant MELA-AU 14 20797980 20797980 single base substitution T C intron_variant MELA-AU 14 20797980 20797980 single base substitution T C upstream_gene_variant MELA-AU 14 20798650 20798650 single base substitution A T intron_variant MELA-AU 14 20798650 20798650 single base substitution A T upstream_gene_variant MELA-AU 14 20798674 20798674 single base substitution A C intron_variant MELA-AU 14 20798674 20798674 single base substitution A C upstream_gene_variant MELA-AU 14 20799067 20799067 single base substitution G A intron_variant MELA-AU 14 20799067 20799067 single base substitution G A upstream_gene_variant MELA-AU 14 20800187 20800187 single base substitution T A intron_variant MELA-AU 14 20800187 20800187 single base substitution T A upstream_gene_variant MELA-AU 14 20801561 20801561 single base substitution C T upstream_gene_variant MELA-AU 14 20802183 20802183 single base substitution T C upstream_gene_variant MELA-AU 14 20802366 20802366 single base substitution C T upstream_gene_variant MELA-AU 14 20802544 20802544 single base substitution G A upstream_gene_variant MELA-AU 14 20802768 20802768 single base substitution C T upstream_gene_variant MELA-AU 14 20802802 20802802 single base substitution C T upstream_gene_variant MELA-AU 14 20803370 20803370 single base substitution A G upstream_gene_variant MELA-AU 14 20803580 20803580 single base substitution C T upstream_gene_variant MELA-AU 14 20803833 20803833 single base substitution G A upstream_gene_variant MELA-AU 14 20804981 20804981 single base substitution G A upstream_gene_variant MELA-AU 14 20805336 20805336 single base substitution C T upstream_gene_variant MELA-AU 14 20805610 20805610 single base substitution A G upstream_gene_variant MELA-AU 14 20806171 20806172 multiple base substitution (>=2bp and <=200bp) GA TT upstream_gene_variant MELA-AU 14 20806320 20806320 single base substitution A G upstream_gene_variant ORCA-IN 14 20779893 20779893 single base substitution G A 3_prime_UTR_variant ORCA-IN 14 20779893 20779893 single base substitution G A downstream_gene_variant ORCA-IN 14 20779893 20779893 single base substitution G A missense_variant P217L 650C>T ORCA-IN 14 20784032 20784032 single base substitution G A downstream_gene_variant ORCA-IN 14 20784032 20784032 single base substitution G A intron_variant ORCA-IN 14 20784444 20784444 single base substitution A T downstream_gene_variant ORCA-IN 14 20784444 20784444 single base substitution A T exon_variant ORCA-IN 14 20784444 20784444 single base substitution A T missense_variant L80Q 239T>A ORCA-IN 14 20784444 20784444 single base substitution A T upstream_gene_variant ORCA-IN 14 20798079 20798079 single base substitution G A intron_variant ORCA-IN 14 20798079 20798079 single base substitution G A upstream_gene_variant ORCA-IN 14 20798277 20798278 deletion of <=200bp AC - intron_variant ORCA-IN 14 20798277 20798278 deletion of <=200bp AC - upstream_gene_variant OV-AU 14 20791813 20791813 single base substitution C A downstream_gene_variant OV-AU 14 20791813 20791813 single base substitution C A intron_variant OV-AU 14 20792225 20792225 single base substitution A G downstream_gene_variant OV-AU 14 20792225 20792225 single base substitution A G intron_variant OV-AU 14 20792543 20792543 single base substitution A C downstream_gene_variant OV-AU 14 20792543 20792543 single base substitution A C intron_variant OV-AU 14 20792857 20792857 single base substitution A G downstream_gene_variant OV-AU 14 20792857 20792857 single base substitution A G intron_variant OV-AU 14 20800868 20800868 single base substitution G T intron_variant OV-AU 14 20800868 20800868 single base substitution G T upstream_gene_variant OV-AU 14 20804871 20804871 single base substitution A G upstream_gene_variant OV-AU 14 20805267 20805267 single base substitution T C upstream_gene_variant OV-US 14 20781754 20781754 single base substitution A T 3_prime_UTR_variant OV-US 14 20781754 20781754 single base substitution A T downstream_gene_variant OV-US 14 20781754 20781754 single base substitution A T missense_variant N168K 504T>A PACA-AU 14 20775471 20775471 single base substitution C T downstream_gene_variant PACA-AU 14 20782155 20782155 deletion of <=200bp A - downstream_gene_variant PACA-AU 14 20782155 20782155 deletion of <=200bp A - intron_variant PACA-AU 14 20782745 20782745 single base substitution G A 3_prime_UTR_variant PACA-AU 14 20782745 20782745 single base substitution G A downstream_gene_variant PACA-AU 14 20782745 20782745 single base substitution G A intron_variant PACA-AU 14 20805647 20805647 single base substitution A G upstream_gene_variant PACA-CA 14 20775949 20775949 single base substitution A G downstream_gene_variant PACA-CA 14 20777389 20777390 deletion of <=200bp GG - downstream_gene_variant PACA-CA 14 20783646 20783646 single base substitution A G downstream_gene_variant PACA-CA 14 20783646 20783646 single base substitution A G intron_variant PACA-CA 14 20783646 20783646 single base substitution A G splice_region_variant PACA-CA 14 20784431 20784431 single base substitution G A downstream_gene_variant PACA-CA 14 20784431 20784431 single base substitution G A exon_variant PACA-CA 14 20784431 20784431 single base substitution G A synonymous_variant I84I 252C>T PACA-CA 14 20784431 20784431 single base substitution G A upstream_gene_variant PACA-CA 14 20784619 20784619 single base substitution A G downstream_gene_variant PACA-CA 14 20784619 20784619 single base substitution A G exon_variant PACA-CA 14 20784619 20784619 single base substitution A G missense_variant Y22H 64T>C PACA-CA 14 20784619 20784619 single base substitution A G missense_variant Y53H 157T>C PACA-CA 14 20784619 20784619 single base substitution A G upstream_gene_variant PACA-CA 14 20784704 20784704 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 14 20784704 20784704 single base substitution G T downstream_gene_variant PACA-CA 14 20784704 20784704 single base substitution G T missense_variant F24L 72C>A PACA-CA 14 20784704 20784704 single base substitution G T upstream_gene_variant PACA-CA 14 20799875 20799875 single base substitution T A intron_variant PACA-CA 14 20799875 20799875 single base substitution T A upstream_gene_variant PACA-CA 14 20802268 20802268 single base substitution G C upstream_gene_variant PACA-CA 14 20802587 20802587 single base substitution T C upstream_gene_variant PACA-CA 14 20804622 20804622 single base substitution G C upstream_gene_variant PAEN-AU 14 20778375 20778375 single base substitution T G downstream_gene_variant PAEN-AU 14 20801946 20801946 single base substitution A C upstream_gene_variant PRAD-CA 14 20781884 20781884 single base substitution T C 3_prime_UTR_variant PRAD-CA 14 20781884 20781884 single base substitution T C downstream_gene_variant PRAD-CA 14 20781884 20781884 single base substitution T C missense_variant Y125C 374A>G PRAD-CA 14 20789926 20789926 single base substitution T C downstream_gene_variant PRAD-CA 14 20789926 20789926 single base substitution T C intron_variant PRAD-CA 14 20806125 20806125 single base substitution T A upstream_gene_variant PRAD-UK 14 20779724 20779724 single base substitution T G downstream_gene_variant PRAD-UK 14 20779724 20779724 single base substitution T G missense_variant K273N 819A>C PRAD-UK 14 20781973 20781973 single base substitution G T downstream_gene_variant PRAD-UK 14 20781973 20781973 single base substitution G T intron_variant READ-US 14 20784386 20784386 single base substitution C A downstream_gene_variant READ-US 14 20784386 20784386 single base substitution C A missense_variant Q99H 297G>T READ-US 14 20784386 20784386 single base substitution C A splice_region_variant RECA-EU 14 20801157 20801157 single base substitution A T 5_prime_UTR_variant RECA-EU 14 20801157 20801157 single base substitution A T exon_variant RECA-EU 14 20801157 20801157 single base substitution A T intron_variant RECA-EU 14 20801157 20801157 single base substitution A T upstream_gene_variant RECA-EU 14 20803712 20803712 single base substitution T A upstream_gene_variant RECA-EU 14 20803713 20803713 single base substitution G T upstream_gene_variant SKCA-BR 14 20775419 20775419 single base substitution A C downstream_gene_variant SKCA-BR 14 20777755 20777755 single base substitution T C downstream_gene_variant SKCA-BR 14 20777791 20777791 single base substitution G C downstream_gene_variant SKCA-BR 14 20777954 20777954 single base substitution T C downstream_gene_variant SKCA-BR 14 20778485 20778485 single base substitution C A downstream_gene_variant SKCA-BR 14 20778524 20778524 single base substitution A G downstream_gene_variant SKCA-BR 14 20778814 20778814 single base substitution G A downstream_gene_variant SKCA-BR 14 20778816 20778816 single base substitution G C downstream_gene_variant SKCA-BR 14 20779439 20779439 single base substitution T A downstream_gene_variant SKCA-BR 14 20779459 20779461 deletion of <=200bp TAA - downstream_gene_variant SKCA-BR 14 20779477 20779477 single base substitution G A downstream_gene_variant SKCA-BR 14 20784051 20784051 single base substitution T A downstream_gene_variant SKCA-BR 14 20784051 20784051 single base substitution T A intron_variant SKCA-BR 14 20785555 20785555 single base substitution C T downstream_gene_variant SKCA-BR 14 20785555 20785555 single base substitution C T intron_variant SKCA-BR 14 20785555 20785555 single base substitution C T upstream_gene_variant SKCA-BR 14 20789295 20789296 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 14 20789295 20789296 deletion of <=200bp CA - intron_variant SKCA-BR 14 20789295 20789296 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 14 20790782 20790782 single base substitution T A downstream_gene_variant SKCA-BR 14 20790782 20790782 single base substitution T A intron_variant SKCA-BR 14 20795441 20795441 single base substitution A G intron_variant SKCA-BR 14 20798274 20798278 deletion of <=200bp AAAAC - intron_variant SKCA-BR 14 20798274 20798278 deletion of <=200bp AAAAC - upstream_gene_variant SKCA-BR 14 20798278 20798278 single base substitution C A intron_variant SKCA-BR 14 20798278 20798278 single base substitution C A upstream_gene_variant SKCA-BR 14 20799748 20799748 single base substitution G A intron_variant SKCA-BR 14 20799748 20799748 single base substitution G A upstream_gene_variant SKCA-BR 14 20800164 20800164 single base substitution C T intron_variant SKCA-BR 14 20800164 20800164 single base substitution C T upstream_gene_variant SKCA-BR 14 20800164 20800166 deletion of <=200bp CAT - intron_variant SKCA-BR 14 20800164 20800166 deletion of <=200bp CAT - upstream_gene_variant SKCA-BR 14 20800184 20800185 deletion of <=200bp TA - intron_variant SKCA-BR 14 20800184 20800185 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 14 20800185 20800185 single base substitution A T intron_variant SKCA-BR 14 20800185 20800185 single base substitution A T upstream_gene_variant SKCA-BR 14 20800280 20800280 single base substitution A C intron_variant SKCA-BR 14 20800280 20800280 single base substitution A C upstream_gene_variant SKCA-BR 14 20803448 20803448 single base substitution C T upstream_gene_variant SKCA-BR 14 20804025 20804025 single base substitution C T upstream_gene_variant SKCM-US 14 20779823 20779823 single base substitution C A downstream_gene_variant SKCM-US 14 20779823 20779823 single base substitution C A synonymous_variant A240A 720G>T SKCM-US 14 20779894 20779894 single base substitution G A 3_prime_UTR_variant SKCM-US 14 20779894 20779894 single base substitution G A downstream_gene_variant SKCM-US 14 20779894 20779894 single base substitution G A missense_variant P217S 649C>T SKCM-US 14 20781668 20781668 single base substitution G A 3_prime_UTR_variant SKCM-US 14 20781668 20781668 single base substitution G A downstream_gene_variant SKCM-US 14 20781668 20781668 single base substitution G A missense_variant P197L 590C>T STAD-US 14 20781885 20781885 single base substitution A G 3_prime_UTR_variant STAD-US 14 20781885 20781885 single base substitution A G downstream_gene_variant STAD-US 14 20781885 20781885 single base substitution A G missense_variant Y125H 373T>C STAD-US 14 20784573 20784573 single base substitution C T downstream_gene_variant STAD-US 14 20784573 20784573 single base substitution C T exon_variant STAD-US 14 20784573 20784573 single base substitution C T missense_variant G37D 110G>A STAD-US 14 20784573 20784573 single base substitution C T synonymous_variant ?68 STAD-US 14 20784573 20784573 single base substitution C T upstream_gene_variant STAD-US 14 20784646 20784646 single base substitution G A downstream_gene_variant STAD-US 14 20784646 20784646 single base substitution G A exon_variant STAD-US 14 20784646 20784646 single base substitution G A stop_gained R13* 37C>T STAD-US 14 20784646 20784646 single base substitution G A stop_gained R44* 130C>T STAD-US 14 20784646 20784646 single base substitution G A upstream_gene_variant THCA-SA 14 20786009 20786009 single base substitution C A 5_prime_UTR_variant THCA-SA 14 20786009 20786009 single base substitution C A downstream_gene_variant THCA-SA 14 20786009 20786009 single base substitution C A exon_variant THCA-SA 14 20786009 20786009 single base substitution C A intron_variant THCA-SA 14 20786009 20786009 single base substitution C A upstream_gene_variant UCEC-US 14 20779716 20779716 single base substitution C A downstream_gene_variant UCEC-US 14 20779716 20779716 single base substitution C A missense_variant R276I 827G>T UCEC-US 14 20779835 20779835 single base substitution T C downstream_gene_variant UCEC-US 14 20779835 20779835 single base substitution T C synonymous_variant R236R 708A>G UCEC-US 14 20779873 20779873 single base substitution G A 3_prime_UTR_variant UCEC-US 14 20779873 20779873 single base substitution G A downstream_gene_variant UCEC-US 14 20779873 20779873 single base substitution G A stop_gained R224* 670C>T UCEC-US 14 20781832 20781832 single base substitution C A 3_prime_UTR_variant UCEC-US 14 20781832 20781832 single base substitution C A downstream_gene_variant UCEC-US 14 20781832 20781832 single base substitution C A missense_variant E142D 426G>T UCEC-US 14 20781947 20781947 single base substitution C T 3_prime_UTR_variant UCEC-US 14 20781947 20781947 single base substitution C T downstream_gene_variant UCEC-US 14 20781947 20781947 single base substitution C T missense_variant R104H 311G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 2521249 COSM5888226 c.203C>T p.P68L Substitution - Missense 14:20316321-20316321 - WA40 COSM236706 c.682G>A p.D228N Substitution - Missense 14:20311702-20311702 - OSCC-GB_00050111 COSM3711470 c.650C>T p.P217L Substitution - Missense 14:20311734-20311734 - I2L-P19Ta-Tumor-Organoid COSM5362459 c.182T>C p.I61T Substitution - Missense 14:20316342-20316342 - 5T COSM3711470 c.650C>T p.P217L Substitution - Missense 14:20311734-20311734 - LIM1215 COSM4244233 c.720G>A p.A240A Substitution - coding silent 14:20311664-20311664 - BCM567T COSM4955548 c.578G>T p.G193V Substitution - Missense 14:20313521-20313521 - TCGA-EP-A2KA-01 COSM4917431 c.132A>G p.S44S Substitution - coding silent 14:20316392-20316392 - TCGA-D1-A17Q-01 COSM954194 c.827G>T p.R276I Substitution - Missense 14:20311557-20311557 - T3080 COSM1368811 c.499C>T p.R167C Substitution - Missense 14:20313600-20313600 - TCGA-EB-A41A-01 COSM3494660 c.649C>T p.P217S Substitution - Missense 14:20311735-20311735 - TCGA-CG-5721-01 COSM3706160 c.373T>C p.Y125H Substitution - Missense 14:20313726-20313726 - TCGA-CM-6168-01 COSM1368813 c.188G>A p.R63H Substitution - Missense 14:20316336-20316336 - TCGA-G4-6588-01 COSM1368811 c.499C>T p.R167C Substitution - Missense 14:20313600-20313600 - TCGA-FW-A3R5-06 COSM3885788 c.590C>T p.P197L Substitution - Missense 14:20313509-20313509 - BCM567T COSM4955548 c.578G>T p.G193V Substitution - Missense 14:20313521-20313521 - NOKSI COSM4595487 c.127C>T p.R43C Substitution - Missense 14:20316397-20316397 - HX24T COSM3706159 c.766G>T p.V256F Substitution - Missense 14:20311618-20311618 - 585260 COSM324941 c.637A>G p.N213D Substitution - Missense 14:20311747-20311747 - PCSI_0290_Pa_P_526 COSM3999208 c.252C>T p.I84I Substitution - coding silent 14:20316272-20316272 - CSCC-16-T COSM1368811 c.499C>T p.R167C Substitution - Missense 14:20313600-20313600 - 6115123 COSM5551868 c.684T>C p.D228D Substitution - coding silent 14:20311700-20311700 - PT22_1 COSM5902360 c.728C>T p.P243L Substitution - Missense 14:20311656-20311656 - 0113_CRUK_PC_0113_T1_DNA COSM5422362 c.819A>C p.K273N Substitution - Missense 14:20311565-20311565 - PCSI_0080_Pa_P_526 COSM3377330 c.64T>C p.Y22H Substitution - Missense 14:20316460-20316460 - PDA_006 COSM4998154 c.369G>T p.K123N Substitution - Missense 14:20313730-20313730 - HCC145T COSM3706160 c.373T>C p.Y125H Substitution - Missense 14:20313726-20313726 - YURAY COSM5382011 c.523C>T p.Q175* Substitution - Nonsense 14:20313576-20313576 - LUAD-S01357 COSM386607 c.110G>T p.G37V Substitution - Missense 14:20316414-20316414 - BD72T COSM5513021 c.717delT p.F239fs*24 Deletion - Frameshift 14:20311667-20311667 - TCGA-A3-3357-01 COSM469753 c.688G>A p.D230N Substitution - Missense 14:20311696-20311696 - TCGA-B5-A11E-01 COSM954195 c.708A>G p.R236R Substitution - coding silent 14:20311676-20311676 - BD190T COSM3814415 c.38G>A p.R13Q Substitution - Missense 14:20316486-20316486 - TCGA-EE-A183-06 COSM3494659 c.720G>T p.A240A Substitution - coding silent 14:20311664-20311664 - RK172_C01 COSM3700832 c.297+4A>G p.? Unknown 14:20316223-20316223 - T3182 COSM4670200 c.719C>T p.A240V Substitution - Missense 14:20311665-20311665 - SNUH_G16_S1 COSM3999208 c.252C>T p.I84I Substitution - coding silent 14:20316272-20316272 - ESCC-D20 COSM5045965 c.688G>C p.D230H Substitution - Missense 14:20311696-20311696 - TCGA-BR-4184-01 COSM4049674 c.110G>A p.G37D Substitution - Missense 14:20316414-20316414 - PT40 COSM954196 c.670C>T p.R224* Substitution - Nonsense 14:20311714-20311714 - ESCC_158 COSM5646640 c.32A>G p.N11S Substitution - Missense 14:20316492-20316492 - HX17T COSM1607451 c.374A>G p.Y125C Substitution - Missense 14:20313725-20313725 - TCGA-BS-A0UJ-01 COSM954196 c.670C>T p.R224* Substitution - Nonsense 14:20311714-20311714 - TCGA-G4-6588-01 COSM1368812 c.280G>A p.A94T Substitution - Missense 14:20316244-20316244 - TCGA-FG-6690-01 COSM236706 c.682G>A p.D228N Substitution - Missense 14:20311702-20311702 - CPCG0392-F1 COSM1607451 c.374A>G p.Y125C Substitution - Missense 14:20313725-20313725 - S02299 COSM5690197 c.620G>T p.G207V Substitution - Missense 14:20313479-20313479 - TCGA-CA-6718-01 COSM954194 c.827G>T p.R276I Substitution - Missense 14:20311557-20311557 - 4095_T COSM3955865 c.495G>A p.M165I Substitution - Missense 14:20313604-20313604 - SNUH_G76_S1 COSM3999208 c.252C>T p.I84I Substitution - coding silent 14:20316272-20316272 - TCGA-09-0369-01 COSM74054 c.504T>A p.N168K Substitution - Missense 14:20313595-20313595 - TCGA-BR-4361-01 COSM4049675 c.37C>T p.R13* Substitution - Nonsense 14:20316487-20316487 - PCSI_0080_Pa_X COSM3377330 c.64T>C p.Y22H Substitution - Missense 14:20316460-20316460 - TCGA-AX-A0J1-01 COSM954198 c.311G>A p.R104H Substitution - Missense 14:20313788-20313788 - CSCC-44-T COSM4546634 c.403G>C p.E135Q Substitution - Missense 14:20313696-20313696 - PTC-7C COSM4147958 c.738T>G p.P246P Substitution - coding silent 14:20311646-20311646 - I2L-P19Ta-Tumor-Biopsy COSM5362459 c.182T>C p.I61T Substitution - Missense 14:20316342-20316342 - TCGA-BH-A18G-01 COSM3814414 c.416T>C p.M139T Substitution - Missense 14:20313683-20313683 - RK308_C01 COSM3744255 c.112A>G p.S38G Substitution - Missense 14:20316412-20316412 - OSCC-GB_00760111 COSM4887189 c.239T>A p.L80Q Substitution - Missense 14:20316285-20316285 - HCC145 COSM3706160 c.373T>C p.Y125H Substitution - Missense 14:20313726-20313726 - SNU-175 COSM2028832 c.47G>A p.R16H Substitution - Missense 14:20316477-20316477 - TCGA-DB-A64L-01 COSM3968714 c.653T>C p.L218S Substitution - Missense 14:20311731-20311731 - RK081_C01 COSM3744254 c.503A>G p.N168S Substitution - Missense 14:20313596-20313596 - TCGA-DK-A1AC-01 COSM1300468 c.315C>G p.L105L Substitution - coding silent 14:20313784-20313784 - TCGA-AP-A059-01 COSM954197 c.426G>T p.E142D Substitution - Missense 14:20313673-20313673 - TCGA-AH-6644-01 COSM1562713 c.297G>T p.Q99H Substitution - Missense 14:20316227-20316227 - LUAD-NYU408 COSM374159 c.11G>T p.C4F Substitution - Missense 14:20316513-20316513 - TCGA-AN-A046-01 COSM3814415 c.38G>A p.R13Q Substitution - Missense 14:20316486-20316486 - IGROV-1 COSM1677843 c.728C>A p.P243H Substitution - Missense 14:20311656-20311656 - 2293761 COSM4606954 c.793C>A p.Q265K Substitution - Missense 14:20311591-20311591 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.107003 14q11.2 608249 2414086|CGAP|BC000369|A/C|non-coding||395|Validated; 2414086|CGAP|BC001218|A/C|non-coding||398|Validated; 2414086|CGAP|BC004435|A/C|non-coding||395|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.N168K c.504T>A 14 20781754 OV C A Synonymous p.A240A c.720G>T 14 20779823 CM CC AA Missense p.R270I c.809_810delinsTT 14 20779733 CM C G Missense p.S131T c.392G>C 14 20781866 HNSC C T Missense p.D228N c.682G>A 14 20779861 LGG C T Missense p.D230N c.688G>A 14 20779855 RCCC G A Missense p.R63C c.187C>T 14 20784496 LUAD G A Nonsense p.Q127* c.379C>T 14 20781879 HNSC G C Missense p.S131R c.393C>G 14 20781865 BRCA T - 3-UTRDeletion . c.831+160delA 14 20779552 STAD T C Missense p.N213D c.637A>G 14 20779906 SCLC T C Missense p.N213S c.638A>G 14 20779905 HNSC