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 7 120591274 120591274 + Missense_Mutation SNP G G A TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 g.chr7:120591274G>A c.85G>A c.(85-87)Gac>Aac p.D29N BLCA 7 120607594 120607594 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr7:120607594A>T c.448A>T c.(448-450)Aat>Tat p.N150Y BLCA 7 120609186 120609186 + Missense_Mutation SNP C C T TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr7:120609186C>T c.836C>T c.(835-837)tCg>tTg p.S279L BLCA 7 120610799 120610799 + Missense_Mutation SNP A A T TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr7:120610799A>T c.966A>T c.(964-966)ttA>ttT p.L322F BLCA 7 120610833 120610833 + Nonsense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr7:120610833G>T c.1000G>T c.(1000-1002)Gaa>Taa p.E334* BLCA 7 120614801 120614801 + Missense_Mutation SNP A A C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr7:120614801A>C c.1160A>C c.(1159-1161)cAt>cCt p.H387P BLCA 7 120614878 120614878 + Silent SNP A A C TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr7:120614878A>C c.1237A>C c.(1237-1239)Aga>Cga p.R413R BRCA 7 120607994 120607994 + Missense_Mutation SNP G G A TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr7:120607994G>A c.563G>A c.(562-564)cGa>cAa p.R188Q COAD 7 120591261 120591261 + Missense_Mutation SNP A A T TCGA-AA-3542-01A-02W-0831-10 TCGA-AA-3542-10A-01W-0831-10 g.chr7:120591261A>T c.72A>T c.(70-72)gaA>gaT p.E24D COAD 7 120607688 120607688 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:120607688A>C c.542A>C c.(541-543)aAg>aCg p.K181T COAD 7 120607994 120607994 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:120607994G>A c.563G>A c.(562-564)cGa>cAa p.R188Q COAD 7 120608137 120608137 + Missense_Mutation SNP A A G TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr7:120608137A>G c.706A>G c.(706-708)Aca>Gca p.T236A COADREAD 7 120591261 120591261 + Missense_Mutation SNP A A T TCGA-AA-3542-01A-02W-0831-10 TCGA-AA-3542-10A-01W-0831-10 g.chr7:120591261A>T c.72A>T c.(70-72)gaA>gaT p.E24D COADREAD 7 120607688 120607688 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr7:120607688A>C c.542A>C c.(541-543)aAg>aCg p.K181T COADREAD 7 120607994 120607994 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr7:120607994G>A c.563G>A c.(562-564)cGa>cAa p.R188Q COADREAD 7 120608137 120608137 + Missense_Mutation SNP A A G TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr7:120608137A>G c.706A>G c.(706-708)Aca>Gca p.T236A DLBC 7 120610847 120610849 + In_Frame_Del DEL AAC AAC - TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr7:120610847_120610849delAAC c.1014_1016delAAC c.(1012-1017)caaaca>caa p.T340del ESCA 7 120593360 120593360 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 g.chr7:120593360G>T c.103G>T c.(103-105)Gca>Tca p.A35S ESCA 7 120595654 120595654 + Missense_Mutation SNP G G T TCGA-LN-A8I0-01A-11D-A36J-09 TCGA-LN-A8I0-10A-01D-A36M-09 g.chr7:120595654G>T c.243G>T c.(241-243)caG>caT p.Q81H ESCA 7 120606729 120606729 + Silent SNP T T C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr7:120606729T>C c.414T>C c.(412-414)gcT>gcC p.A138A GBMLGG 7 120604816 120604816 + Missense_Mutation SNP G G C TCGA-DH-A66D-01A-11D-A31L-08 TCGA-DH-A66D-10A-01D-A31J-08 g.chr7:120604816G>C c.288G>C c.(286-288)aaG>aaC p.K96N HNSC 7 120590962 120590962 + Silent SNP A A G TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 g.chr7:120590962A>G c.12A>G c.(10-12)ctA>ctG p.L4L HNSC 7 120608018 120608018 + Missense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr7:120608018C>T c.587C>T c.(586-588)tCt>tTt p.S196F HNSC 7 120613295 120613295 + Missense_Mutation SNP G G C TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 g.chr7:120613295G>C c.1138G>C c.(1138-1140)Gat>Cat p.D380H KIPAN 7 120595620 120595620 + Missense_Mutation SNP A A G TCGA-G7-6796-01A-11D-1961-08 TCGA-G7-6796-10A-01D-1962-08 g.chr7:120595620A>G c.209A>G c.(208-210)tAt>tGt p.Y70C KIRP 7 120595620 120595620 + Missense_Mutation SNP A A G TCGA-G7-6796-01A-11D-1961-08 TCGA-G7-6796-10A-01D-1962-08 g.chr7:120595620A>G c.209A>G c.(208-210)tAt>tGt p.Y70C LGG 7 120604816 120604816 + Missense_Mutation SNP G G C TCGA-DH-A66D-01A-11D-A31L-08 TCGA-DH-A66D-10A-01D-A31J-08 g.chr7:120604816G>C c.288G>C c.(286-288)aaG>aaC p.K96N LIHC 7 120607623 120607623 + Silent SNP T T C TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr7:120607623T>C c.477T>C c.(475-477)gaT>gaC p.D159D LIHC 7 120607679 120607679 + Missense_Mutation SNP A A G TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr7:120607679A>G c.533A>G c.(532-534)gAt>gGt p.D178G LUAD 7 120590975 120590975 + Missense_Mutation SNP G G C TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr7:120590975G>C c.25G>C c.(25-27)Gaa>Caa p.E9Q LUAD 7 120606714 120606714 + Silent SNP G G T TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr7:120606714G>T c.399G>T c.(397-399)gtG>gtT p.V133V LUAD 7 120608099 120608099 + Missense_Mutation SNP G G C TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr7:120608099G>C c.668G>C c.(667-669)gGg>gCg p.G223A LUSC 7 120593375 120593375 + Missense_Mutation SNP G G C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr7:120593375G>C c.118G>C c.(118-120)Gaa>Caa p.E40Q LUSC 7 120606683 120606683 + Missense_Mutation SNP C C A TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 g.chr7:120606683C>A c.368C>A c.(367-369)tCt>tAt p.S123Y LUSC 7 120608024 120608024 + Missense_Mutation SNP A A G TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 g.chr7:120608024A>G c.593A>G c.(592-594)aAt>aGt p.N198S OV 7 120609159 120609159 + Missense_Mutation SNP G G C TCGA-13-1504-01A-01W-0545-08 TCGA-13-1504-10A-01W-0546-08 g.chr7:120609159G>C c.809G>C c.(808-810)aGg>aCg p.R270T PCPG 7 120607662 120607662 + Silent SNP A A G TCGA-QR-A70R-01A-11D-A35D-08 TCGA-QR-A70R-10A-01D-A35B-08 g.chr7:120607662A>G c.516A>G c.(514-516)ctA>ctG p.L172L SKCM 7 120590960 120590960 + Silent SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr7:120590960C>T c.10C>T c.(10-12)Cta>Tta p.L4L SKCM 7 120608053 120608053 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:120608053C>T c.622C>T c.(622-624)Ctg>Ttg p.L208L SKCM 7 120609222 120609222 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:120609222C>T c.872C>T c.(871-873)tCa>tTa p.S291L SKCM 7 120610780 120610780 + Missense_Mutation SNP C C T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr7:120610780C>T c.947C>T c.(946-948)tCc>tTc p.S316F SKCM 7 120613283 120613284 + Frame_Shift_Ins INS - - G TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr7:120613283_120613284insG c.1126_1127insG c.(1126-1128)tgtfs p.C376fs

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 7 120609240 120609240 single base substitution G A 3_prime_UTR_variant ALL-US 7 120609240 120609240 single base substitution G A exon_variant ALL-US 7 120609240 120609240 single base substitution G A missense_variant R282Q 845G>A ALL-US 7 120609240 120609240 single base substitution G A missense_variant R297Q 890G>A BLCA-US 7 120610799 120610799 single base substitution A T 3_prime_UTR_variant BLCA-US 7 120610799 120610799 single base substitution A T exon_variant BLCA-US 7 120610799 120610799 single base substitution A T missense_variant L307F 921A>T BLCA-US 7 120610799 120610799 single base substitution A T missense_variant L322F 966A>T BLCA-US 7 120614801 120614801 single base substitution A C 3_prime_UTR_variant BLCA-US 7 120614801 120614801 single base substitution A C downstream_gene_variant BLCA-US 7 120614801 120614801 single base substitution A C missense_variant H372P 1115A>C BLCA-US 7 120614801 120614801 single base substitution A C missense_variant H387P 1160A>C BRCA-EU 7 120586166 120586166 single base substitution C T upstream_gene_variant BRCA-EU 7 120587164 120587164 single base substitution G A upstream_gene_variant BRCA-EU 7 120587204 120587204 single base substitution C A upstream_gene_variant BRCA-EU 7 120587349 120587349 single base substitution G A upstream_gene_variant BRCA-EU 7 120587578 120587578 single base substitution C T upstream_gene_variant BRCA-EU 7 120587920 120587920 single base substitution T C upstream_gene_variant BRCA-EU 7 120588334 120588334 single base substitution T A upstream_gene_variant BRCA-EU 7 120588797 120588797 insertion of <=200bp - A upstream_gene_variant BRCA-EU 7 120590120 120590120 single base substitution A G upstream_gene_variant BRCA-EU 7 120591331 120591331 single base substitution C T intron_variant BRCA-EU 7 120591635 120591635 single base substitution A G intron_variant BRCA-EU 7 120591934 120591934 single base substitution C G intron_variant BRCA-EU 7 120591938 120591938 single base substitution G A intron_variant BRCA-EU 7 120593149 120593149 single base substitution A G intron_variant BRCA-EU 7 120594800 120594800 insertion of <=200bp - T intron_variant BRCA-EU 7 120595855 120595855 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 120595855 120595855 single base substitution G C intron_variant BRCA-EU 7 120597034 120597034 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 120597034 120597034 single base substitution G A downstream_gene_variant BRCA-EU 7 120597034 120597034 single base substitution G A intron_variant BRCA-EU 7 120598316 120598316 single base substitution C T downstream_gene_variant BRCA-EU 7 120598316 120598316 single base substitution C T intron_variant BRCA-EU 7 120598860 120598860 single base substitution A C downstream_gene_variant BRCA-EU 7 120598860 120598860 single base substitution A C intron_variant BRCA-EU 7 120599159 120599159 single base substitution G A downstream_gene_variant BRCA-EU 7 120599159 120599159 single base substitution G A intron_variant BRCA-EU 7 120599537 120599537 single base substitution C T downstream_gene_variant BRCA-EU 7 120599537 120599537 single base substitution C T intron_variant BRCA-EU 7 120599934 120599934 single base substitution C T downstream_gene_variant BRCA-EU 7 120599934 120599934 single base substitution C T intron_variant BRCA-EU 7 120600393 120600393 single base substitution C G downstream_gene_variant BRCA-EU 7 120600393 120600393 single base substitution C G intron_variant BRCA-EU 7 120600594 120600594 single base substitution C T downstream_gene_variant BRCA-EU 7 120600594 120600594 single base substitution C T intron_variant BRCA-EU 7 120601419 120601419 single base substitution T C downstream_gene_variant BRCA-EU 7 120601419 120601419 single base substitution T C intron_variant BRCA-EU 7 120601870 120601870 single base substitution G C downstream_gene_variant BRCA-EU 7 120601870 120601870 single base substitution G C intron_variant BRCA-EU 7 120602419 120602420 deletion of <=200bp TC - intron_variant BRCA-EU 7 120603658 120603658 single base substitution A G intron_variant BRCA-EU 7 120603658 120603658 single base substitution A G upstream_gene_variant BRCA-EU 7 120604237 120604237 single base substitution A T intron_variant BRCA-EU 7 120604237 120604237 single base substitution A T upstream_gene_variant BRCA-EU 7 120604816 120604816 single base substitution G C intron_variant BRCA-EU 7 120604816 120604816 single base substitution G C missense_variant K81N 243G>C BRCA-EU 7 120604816 120604816 single base substitution G C missense_variant K96N 288G>C BRCA-EU 7 120604816 120604816 single base substitution G C upstream_gene_variant BRCA-EU 7 120605325 120605325 single base substitution A G intron_variant BRCA-EU 7 120605325 120605325 single base substitution A G upstream_gene_variant BRCA-EU 7 120605912 120605912 single base substitution G C intron_variant BRCA-EU 7 120605912 120605912 single base substitution G C upstream_gene_variant BRCA-EU 7 120606249 120606249 single base substitution G A intron_variant BRCA-EU 7 120606249 120606249 single base substitution G A upstream_gene_variant BRCA-EU 7 120606252 120606252 single base substitution C G intron_variant BRCA-EU 7 120606252 120606252 single base substitution C G upstream_gene_variant BRCA-EU 7 120606863 120606863 deletion of <=200bp T - intron_variant BRCA-EU 7 120606863 120606863 deletion of <=200bp T - upstream_gene_variant BRCA-EU 7 120608175 120608175 single base substitution G C intron_variant BRCA-EU 7 120610898 120610898 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 120610898 120610898 single base substitution C T exon_variant BRCA-EU 7 120610898 120610898 single base substitution C T synonymous_variant Y340Y 1020C>T BRCA-EU 7 120610898 120610898 single base substitution C T synonymous_variant Y355Y 1065C>T BRCA-EU 7 120612379 120612379 single base substitution G A downstream_gene_variant BRCA-EU 7 120612379 120612379 single base substitution G A intron_variant BRCA-EU 7 120612487 120612492 deletion of <=200bp AAAAGC - downstream_gene_variant BRCA-EU 7 120612487 120612492 deletion of <=200bp AAAAGC - intron_variant BRCA-EU 7 120613881 120613881 single base substitution G T downstream_gene_variant BRCA-EU 7 120613881 120613881 single base substitution G T intron_variant BRCA-EU 7 120614547 120614547 single base substitution C A downstream_gene_variant BRCA-EU 7 120614547 120614547 single base substitution C A intron_variant BRCA-EU 7 120615435 120615435 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 120615435 120615435 single base substitution G A downstream_gene_variant BRCA-EU 7 120615873 120615873 single base substitution A T 3_prime_UTR_variant BRCA-EU 7 120615873 120615873 single base substitution A T downstream_gene_variant BRCA-EU 7 120616262 120616262 single base substitution A G 3_prime_UTR_variant BRCA-EU 7 120616262 120616262 single base substitution A G downstream_gene_variant BRCA-EU 7 120617950 120617950 single base substitution G C downstream_gene_variant BRCA-EU 7 120619121 120619121 single base substitution T C downstream_gene_variant BRCA-EU 7 120619970 120619970 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 120620090 120620090 single base substitution T G downstream_gene_variant BRCA-EU 7 120620937 120620937 insertion of <=200bp - A downstream_gene_variant BRCA-EU 7 120621078 120621078 single base substitution G A downstream_gene_variant BRCA-EU 7 120621944 120621944 single base substitution C T downstream_gene_variant BRCA-FR 7 120587164 120587164 single base substitution G A upstream_gene_variant BRCA-FR 7 120587349 120587349 single base substitution G A upstream_gene_variant BRCA-FR 7 120591065 120591065 single base substitution G A intron_variant BRCA-FR 7 120591065 120591065 single base substitution G A upstream_gene_variant BRCA-FR 7 120591331 120591331 single base substitution C T intron_variant BRCA-FR 7 120595855 120595855 single base substitution G C 3_prime_UTR_variant BRCA-FR 7 120595855 120595855 single base substitution G C intron_variant BRCA-FR 7 120598472 120598472 single base substitution C G downstream_gene_variant BRCA-FR 7 120598472 120598472 single base substitution C G intron_variant BRCA-FR 7 120606635 120606635 single base substitution G A intron_variant BRCA-FR 7 120606635 120606635 single base substitution G A upstream_gene_variant BRCA-FR 7 120620180 120620180 single base substitution C T downstream_gene_variant BRCA-FR 7 120621545 120621545 single base substitution G T downstream_gene_variant BRCA-FR 7 120621944 120621944 single base substitution C T downstream_gene_variant BRCA-UK 7 120588576 120588576 single base substitution C T upstream_gene_variant BRCA-UK 7 120598860 120598860 single base substitution A C downstream_gene_variant BRCA-UK 7 120598860 120598860 single base substitution A C intron_variant BRCA-UK 7 120609399 120609399 single base substitution C T intron_variant BRCA-US 7 120607994 120607994 single base substitution G A 3_prime_UTR_variant BRCA-US 7 120607994 120607994 single base substitution G A exon_variant BRCA-US 7 120607994 120607994 single base substitution G A missense_variant R173Q 518G>A BRCA-US 7 120607994 120607994 single base substitution G A missense_variant R188Q 563G>A BTCA-JP 7 120591218 120591218 single base substitution T A 5_prime_UTR_variant BTCA-JP 7 120591218 120591218 single base substitution T A missense_variant M10K 29T>A BTCA-JP 7 120591218 120591218 single base substitution T A splice_region_variant BTCA-JP 7 120591335 120591335 single base substitution G A intron_variant BTCA-JP 7 120596138 120596138 single base substitution G T 3_prime_UTR_variant BTCA-JP 7 120596138 120596138 single base substitution G T intron_variant BTCA-JP 7 120607996 120607998 deletion of <=200bp AAT - 3_prime_UTR_variant BTCA-JP 7 120607996 120607998 deletion of <=200bp AAT - exon_variant BTCA-JP 7 120607996 120607998 deletion of <=200bp AAT - inframe_deletion N174 BTCA-JP 7 120607996 120607998 deletion of <=200bp AAT - inframe_deletion N189 BTCA-JP 7 120608265 120608265 single base substitution T C intron_variant BTCA-JP 7 120614964 120614964 single base substitution G T 3_prime_UTR_variant BTCA-JP 7 120614964 120614964 single base substitution G T downstream_gene_variant COAD-US 7 120607688 120607688 single base substitution A C 3_prime_UTR_variant COAD-US 7 120607688 120607688 single base substitution A C exon_variant COAD-US 7 120607688 120607688 single base substitution A C missense_variant K166T 497A>C COAD-US 7 120607688 120607688 single base substitution A C missense_variant K181T 542A>C COAD-US 7 120608137 120608137 single base substitution A G 3_prime_UTR_variant COAD-US 7 120608137 120608137 single base substitution A G exon_variant COAD-US 7 120608137 120608137 single base substitution A G missense_variant T221A 661A>G COAD-US 7 120608137 120608137 single base substitution A G missense_variant T236A 706A>G COCA-CN 7 120587561 120587561 single base substitution G A upstream_gene_variant COCA-CN 7 120590816 120590816 single base substitution C T 5_prime_UTR_variant COCA-CN 7 120590816 120590816 single base substitution C T upstream_gene_variant COCA-CN 7 120590817 120590817 single base substitution T C 5_prime_UTR_variant COCA-CN 7 120590817 120590817 single base substitution T C upstream_gene_variant ESAD-UK 7 120586209 120586209 single base substitution T G upstream_gene_variant ESAD-UK 7 120586769 120586769 single base substitution C A upstream_gene_variant ESAD-UK 7 120587923 120587923 single base substitution G T upstream_gene_variant ESAD-UK 7 120590683 120590683 single base substitution A C upstream_gene_variant ESAD-UK 7 120591273 120591273 single base substitution G A exon_variant ESAD-UK 7 120591273 120591273 single base substitution G A missense_variant M13I 39G>A ESAD-UK 7 120591273 120591273 single base substitution G A missense_variant M28I 84G>A ESAD-UK 7 120591694 120591694 deletion of <=200bp C - intron_variant ESAD-UK 7 120592876 120592876 single base substitution T G intron_variant ESAD-UK 7 120598926 120598926 single base substitution T C downstream_gene_variant ESAD-UK 7 120598926 120598926 single base substitution T C intron_variant ESAD-UK 7 120600910 120600910 single base substitution C G downstream_gene_variant ESAD-UK 7 120600910 120600910 single base substitution C G intron_variant ESAD-UK 7 120601667 120601667 single base substitution G C downstream_gene_variant ESAD-UK 7 120601667 120601667 single base substitution G C intron_variant ESAD-UK 7 120602655 120602655 single base substitution T C intron_variant ESAD-UK 7 120602655 120602655 single base substitution T C upstream_gene_variant ESAD-UK 7 120603779 120603779 single base substitution C T intron_variant ESAD-UK 7 120603779 120603779 single base substitution C T upstream_gene_variant ESAD-UK 7 120606259 120606259 deletion of <=200bp T - intron_variant ESAD-UK 7 120606259 120606259 deletion of <=200bp T - upstream_gene_variant ESAD-UK 7 120608411 120608411 single base substitution G C intron_variant ESAD-UK 7 120608465 120608465 insertion of <=200bp - AAGGCT intron_variant ESAD-UK 7 120608575 120608575 single base substitution C T intron_variant ESAD-UK 7 120610943 120610943 single base substitution C G downstream_gene_variant ESAD-UK 7 120610943 120610943 single base substitution C G intron_variant ESAD-UK 7 120611810 120611810 single base substitution T A downstream_gene_variant ESAD-UK 7 120611810 120611810 single base substitution T A intron_variant ESAD-UK 7 120612136 120612136 single base substitution T A downstream_gene_variant ESAD-UK 7 120612136 120612136 single base substitution T A intron_variant ESAD-UK 7 120615023 120615023 single base substitution G A 3_prime_UTR_variant ESAD-UK 7 120615023 120615023 single base substitution G A downstream_gene_variant ESAD-UK 7 120616043 120616043 insertion of <=200bp - C 3_prime_UTR_variant ESAD-UK 7 120616043 120616043 insertion of <=200bp - C downstream_gene_variant ESAD-UK 7 120617535 120617535 single base substitution T C downstream_gene_variant ESAD-UK 7 120617686 120617686 single base substitution T G downstream_gene_variant ESAD-UK 7 120618817 120618817 single base substitution C T downstream_gene_variant ESAD-UK 7 120620045 120620045 single base substitution G A downstream_gene_variant ESAD-UK 7 120621240 120621240 single base substitution A G downstream_gene_variant ESAD-UK 7 120621896 120621896 single base substitution C A downstream_gene_variant ESAD-UK 7 120621986 120621986 single base substitution T G downstream_gene_variant ESCA-CN 7 120608942 120608942 single base substitution T A intron_variant KIRP-US 7 120595620 120595620 single base substitution A G exon_variant KIRP-US 7 120595620 120595620 single base substitution A G missense_variant Y55C 164A>G KIRP-US 7 120595620 120595620 single base substitution A G missense_variant Y70C 209A>G LAML-KR 7 120608216 120608216 single base substitution C T intron_variant LAML-KR 7 120609034 120609034 single base substitution T G intron_variant LGG-US 7 120590817 120590817 single base substitution T C 5_prime_UTR_variant LGG-US 7 120590817 120590817 single base substitution T C upstream_gene_variant LICA-CN 7 120593395 120593395 single base substitution C T exon_variant LICA-CN 7 120593395 120593395 single base substitution C T synonymous_variant F31F 93C>T LICA-CN 7 120593395 120593395 single base substitution C T synonymous_variant F46F 138C>T LICA-FR 7 120587803 120587803 single base substitution T C upstream_gene_variant LIHC-US 7 120607623 120607623 single base substitution T C 3_prime_UTR_variant LIHC-US 7 120607623 120607623 single base substitution T C exon_variant LIHC-US 7 120607623 120607623 single base substitution T C synonymous_variant D144D 432T>C LIHC-US 7 120607623 120607623 single base substitution T C synonymous_variant D159D 477T>C LINC-JP 7 120595942 120595942 single base substitution C A 3_prime_UTR_variant LINC-JP 7 120595942 120595942 single base substitution C A intron_variant LINC-JP 7 120596502 120596502 single base substitution C T 3_prime_UTR_variant LINC-JP 7 120596502 120596502 single base substitution C T intron_variant LINC-JP 7 120606413 120606413 single base substitution A T intron_variant LINC-JP 7 120606413 120606413 single base substitution A T upstream_gene_variant LINC-JP 7 120607984 120607984 single base substitution A G splice_region_variant LINC-JP 7 120608024 120608024 single base substitution A G 3_prime_UTR_variant LINC-JP 7 120608024 120608024 single base substitution A G exon_variant LINC-JP 7 120608024 120608024 single base substitution A G missense_variant N183S 548A>G LINC-JP 7 120608024 120608024 single base substitution A G missense_variant N198S 593A>G LINC-JP 7 120610993 120610993 single base substitution A G downstream_gene_variant LINC-JP 7 120610993 120610993 single base substitution A G intron_variant LINC-JP 7 120613181 120613181 single base substitution A G downstream_gene_variant LINC-JP 7 120613181 120613181 single base substitution A G intron_variant LINC-JP 7 120613355 120613355 single base substitution A T downstream_gene_variant LINC-JP 7 120613355 120613355 single base substitution A T intron_variant LINC-JP 7 120613546 120613546 single base substitution G T downstream_gene_variant LINC-JP 7 120613546 120613546 single base substitution G T intron_variant LIRI-JP 7 120590731 120590731 single base substitution T C upstream_gene_variant LIRI-JP 7 120593572 120593572 single base substitution C G intron_variant LIRI-JP 7 120594705 120594705 single base substitution C T intron_variant LIRI-JP 7 120595099 120595099 single base substitution A G intron_variant LIRI-JP 7 120598456 120598456 single base substitution C A downstream_gene_variant LIRI-JP 7 120598456 120598456 single base substitution C A intron_variant LIRI-JP 7 120600287 120600287 single base substitution G A downstream_gene_variant LIRI-JP 7 120600287 120600287 single base substitution G A intron_variant LIRI-JP 7 120602062 120602062 single base substitution A G intron_variant LIRI-JP 7 120602449 120602449 single base substitution G T intron_variant LIRI-JP 7 120602992 120602992 single base substitution G C intron_variant LIRI-JP 7 120602992 120602992 single base substitution G C upstream_gene_variant LIRI-JP 7 120604972 120604972 single base substitution T C intron_variant LIRI-JP 7 120604972 120604972 single base substitution T C upstream_gene_variant LIRI-JP 7 120604988 120604988 single base substitution T G intron_variant LIRI-JP 7 120604988 120604988 single base substitution T G upstream_gene_variant LIRI-JP 7 120606885 120606885 single base substitution G A intron_variant LIRI-JP 7 120606885 120606885 single base substitution G A upstream_gene_variant LIRI-JP 7 120607986 120607986 single base substitution A T splice_acceptor_variant LIRI-JP 7 120610881 120610881 single base substitution C G 3_prime_UTR_variant LIRI-JP 7 120610881 120610881 single base substitution C G exon_variant LIRI-JP 7 120610881 120610881 single base substitution C G missense_variant Q335E 1003C>G LIRI-JP 7 120610881 120610881 single base substitution C G missense_variant Q350E 1048C>G LIRI-JP 7 120611792 120611792 single base substitution A G downstream_gene_variant LIRI-JP 7 120611792 120611792 single base substitution A G intron_variant LIRI-JP 7 120613188 120613188 single base substitution A G downstream_gene_variant LIRI-JP 7 120613188 120613188 single base substitution A G intron_variant LIRI-JP 7 120615214 120615214 single base substitution C G 3_prime_UTR_variant LIRI-JP 7 120615214 120615214 single base substitution C G downstream_gene_variant LIRI-JP 7 120617035 120617035 single base substitution A G 3_prime_UTR_variant LIRI-JP 7 120617035 120617035 single base substitution A G downstream_gene_variant LUSC-KR 7 120587010 120587010 single base substitution G C upstream_gene_variant LUSC-KR 7 120599684 120599684 single base substitution A T downstream_gene_variant LUSC-KR 7 120599684 120599684 single base substitution A T intron_variant LUSC-KR 7 120599824 120599824 single base substitution C T downstream_gene_variant LUSC-KR 7 120599824 120599824 single base substitution C T intron_variant LUSC-KR 7 120607024 120607024 single base substitution G T intron_variant LUSC-KR 7 120607024 120607024 single base substitution G T upstream_gene_variant LUSC-KR 7 120610383 120610383 single base substitution G A intron_variant LUSC-KR 7 120611946 120611946 single base substitution T C downstream_gene_variant LUSC-KR 7 120611946 120611946 single base substitution T C intron_variant LUSC-KR 7 120612685 120612685 single base substitution A T downstream_gene_variant LUSC-KR 7 120612685 120612685 single base substitution A T intron_variant LUSC-KR 7 120617278 120617278 single base substitution G C downstream_gene_variant LUSC-KR 7 120620275 120620275 single base substitution A G downstream_gene_variant LUSC-KR 7 120622183 120622183 single base substitution G A downstream_gene_variant LUSC-US 7 120593375 120593375 single base substitution G C exon_variant LUSC-US 7 120593375 120593375 single base substitution G C missense_variant E25Q 73G>C LUSC-US 7 120593375 120593375 single base substitution G C missense_variant E40Q 118G>C LUSC-US 7 120606683 120606683 single base substitution C A exon_variant LUSC-US 7 120606683 120606683 single base substitution C A missense_variant S108Y 323C>A LUSC-US 7 120606683 120606683 single base substitution C A missense_variant S123Y 368C>A LUSC-US 7 120606683 120606683 single base substitution C A upstream_gene_variant LUSC-US 7 120608024 120608024 single base substitution A G 3_prime_UTR_variant LUSC-US 7 120608024 120608024 single base substitution A G exon_variant LUSC-US 7 120608024 120608024 single base substitution A G missense_variant N183S 548A>G LUSC-US 7 120608024 120608024 single base substitution A G missense_variant N198S 593A>G MALY-DE 7 120587212 120587212 single base substitution C T upstream_gene_variant MALY-DE 7 120599628 120599628 single base substitution T C downstream_gene_variant MALY-DE 7 120599628 120599628 single base substitution T C intron_variant MALY-DE 7 120600984 120600984 single base substitution T G downstream_gene_variant MALY-DE 7 120600984 120600984 single base substitution T G intron_variant MALY-DE 7 120603499 120603499 deletion of <=200bp A - intron_variant MALY-DE 7 120603499 120603499 deletion of <=200bp A - upstream_gene_variant MALY-DE 7 120607748 120607748 single base substitution G A intron_variant MALY-DE 7 120615168 120615168 single base substitution A G 3_prime_UTR_variant MALY-DE 7 120615168 120615168 single base substitution A G downstream_gene_variant MELA-AU 7 120585905 120585905 single base substitution C T upstream_gene_variant MELA-AU 7 120586018 120586018 single base substitution G A upstream_gene_variant MELA-AU 7 120586207 120586207 single base substitution G A upstream_gene_variant MELA-AU 7 120586325 120586325 single base substitution C T upstream_gene_variant MELA-AU 7 120586363 120586363 single base substitution G A upstream_gene_variant MELA-AU 7 120586413 120586413 single base substitution T A upstream_gene_variant MELA-AU 7 120586520 120586520 single base substitution C T upstream_gene_variant MELA-AU 7 120586584 120586584 single base substitution T A upstream_gene_variant MELA-AU 7 120586648 120586648 single base substitution G A upstream_gene_variant MELA-AU 7 120587208 120587208 single base substitution T C upstream_gene_variant MELA-AU 7 120587333 120587333 single base substitution G A upstream_gene_variant MELA-AU 7 120587336 120587336 single base substitution C G upstream_gene_variant MELA-AU 7 120587712 120587712 single base substitution C T upstream_gene_variant MELA-AU 7 120588062 120588062 single base substitution G A upstream_gene_variant MELA-AU 7 120588178 120588178 single base substitution G A upstream_gene_variant MELA-AU 7 120588200 120588200 single base substitution G C upstream_gene_variant MELA-AU 7 120588315 120588315 single base substitution G A upstream_gene_variant MELA-AU 7 120588460 120588460 single base substitution G A upstream_gene_variant MELA-AU 7 120588472 120588472 single base substitution T G upstream_gene_variant MELA-AU 7 120588632 120588632 single base substitution A G upstream_gene_variant MELA-AU 7 120588693 120588693 single base substitution G T upstream_gene_variant MELA-AU 7 120588757 120588757 single base substitution G T upstream_gene_variant MELA-AU 7 120588802 120588802 single base substitution A C upstream_gene_variant MELA-AU 7 120588831 120588831 single base substitution C T upstream_gene_variant MELA-AU 7 120588849 120588849 single base substitution C A upstream_gene_variant MELA-AU 7 120589190 120589190 single base substitution G A upstream_gene_variant MELA-AU 7 120589371 120589371 single base substitution C T upstream_gene_variant MELA-AU 7 120589397 120589397 single base substitution C T upstream_gene_variant MELA-AU 7 120589398 120589398 single base substitution C T upstream_gene_variant MELA-AU 7 120589434 120589434 single base substitution G A upstream_gene_variant MELA-AU 7 120589709 120589709 single base substitution G A upstream_gene_variant MELA-AU 7 120590259 120590259 single base substitution A T upstream_gene_variant MELA-AU 7 120590703 120590703 single base substitution G A upstream_gene_variant MELA-AU 7 120590712 120590713 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 120590713 120590713 single base substitution G A upstream_gene_variant MELA-AU 7 120590716 120590716 single base substitution G A upstream_gene_variant MELA-AU 7 120590726 120590726 single base substitution C T upstream_gene_variant MELA-AU 7 120590741 120590741 single base substitution C T upstream_gene_variant MELA-AU 7 120590744 120590744 single base substitution G A upstream_gene_variant MELA-AU 7 120590764 120590764 single base substitution C T upstream_gene_variant MELA-AU 7 120590930 120590930 single base substitution C T 5_prime_UTR_variant MELA-AU 7 120590930 120590930 single base substitution C T upstream_gene_variant MELA-AU 7 120591176 120591176 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 7 120591176 120591176 single base substitution C T intron_variant MELA-AU 7 120591178 120591179 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 7 120591178 120591179 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 120591193 120591193 single base substitution C T 5_prime_UTR_variant MELA-AU 7 120591193 120591193 single base substitution C T intron_variant MELA-AU 7 120591632 120591632 single base substitution C T intron_variant MELA-AU 7 120592243 120592243 single base substitution G C intron_variant MELA-AU 7 120592813 120592813 single base substitution C T intron_variant MELA-AU 7 120593281 120593281 single base substitution C T intron_variant MELA-AU 7 120593372 120593372 single base substitution C T exon_variant MELA-AU 7 120593372 120593372 single base substitution C T synonymous_variant L24L 70C>T MELA-AU 7 120593372 120593372 single base substitution C T synonymous_variant L39L 115C>T MELA-AU 7 120593788 120593788 single base substitution A T intron_variant MELA-AU 7 120594227 120594227 single base substitution C T intron_variant MELA-AU 7 120595012 120595012 single base substitution T A intron_variant MELA-AU 7 120595141 120595141 single base substitution C T intron_variant MELA-AU 7 120595214 120595214 single base substitution C T intron_variant MELA-AU 7 120595584 120595584 single base substitution A T intron_variant MELA-AU 7 120595680 120595680 single base substitution T C missense_variant V90A 269T>C MELA-AU 7 120595680 120595680 single base substitution T C splice_donor_variant MELA-AU 7 120596225 120596226 multiple base substitution (>=2bp and <=200bp) AA GT 3_prime_UTR_variant MELA-AU 7 120596225 120596226 multiple base substitution (>=2bp and <=200bp) AA GT coding_sequence_variant *93*? MELA-AU 7 120596225 120596226 multiple base substitution (>=2bp and <=200bp) AA GT intron_variant MELA-AU 7 120596918 120596918 single base substitution T C 3_prime_UTR_variant MELA-AU 7 120596918 120596918 single base substitution T C intron_variant MELA-AU 7 120597380 120597380 single base substitution C T downstream_gene_variant MELA-AU 7 120597380 120597380 single base substitution C T intron_variant MELA-AU 7 120597528 120597528 single base substitution C T downstream_gene_variant MELA-AU 7 120597528 120597528 single base substitution C T intron_variant MELA-AU 7 120597621 120597621 single base substitution T A downstream_gene_variant MELA-AU 7 120597621 120597621 single base substitution T A intron_variant MELA-AU 7 120597857 120597857 single base substitution C T downstream_gene_variant MELA-AU 7 120597857 120597857 single base substitution C T intron_variant MELA-AU 7 120598250 120598250 single base substitution C T downstream_gene_variant MELA-AU 7 120598250 120598250 single base substitution C T intron_variant MELA-AU 7 120598349 120598349 single base substitution A G downstream_gene_variant MELA-AU 7 120598349 120598349 single base substitution A G intron_variant MELA-AU 7 120598355 120598355 single base substitution C T downstream_gene_variant MELA-AU 7 120598355 120598355 single base substitution C T intron_variant MELA-AU 7 120599015 120599015 single base substitution T G downstream_gene_variant MELA-AU 7 120599015 120599015 single base substitution T G intron_variant MELA-AU 7 120599028 120599028 single base substitution C T downstream_gene_variant MELA-AU 7 120599028 120599028 single base substitution C T intron_variant MELA-AU 7 120599539 120599539 single base substitution A C downstream_gene_variant MELA-AU 7 120599539 120599539 single base substitution A C intron_variant MELA-AU 7 120599584 120599584 single base substitution C G downstream_gene_variant MELA-AU 7 120599584 120599584 single base substitution C G intron_variant MELA-AU 7 120599604 120599604 single base substitution C T downstream_gene_variant MELA-AU 7 120599604 120599604 single base substitution C T intron_variant MELA-AU 7 120600796 120600796 single base substitution C T downstream_gene_variant MELA-AU 7 120600796 120600796 single base substitution C T intron_variant MELA-AU 7 120600832 120600832 single base substitution C T downstream_gene_variant MELA-AU 7 120600832 120600832 single base substitution C T intron_variant MELA-AU 7 120601276 120601276 single base substitution C T downstream_gene_variant MELA-AU 7 120601276 120601276 single base substitution C T intron_variant MELA-AU 7 120601533 120601533 single base substitution C T downstream_gene_variant MELA-AU 7 120601533 120601533 single base substitution C T intron_variant MELA-AU 7 120601855 120601855 single base substitution G A downstream_gene_variant MELA-AU 7 120601855 120601855 single base substitution G A intron_variant MELA-AU 7 120602379 120602379 single base substitution C A intron_variant MELA-AU 7 120602595 120602595 single base substitution G A intron_variant MELA-AU 7 120602595 120602595 single base substitution G A upstream_gene_variant MELA-AU 7 120602791 120602791 single base substitution C T intron_variant MELA-AU 7 120602791 120602791 single base substitution C T upstream_gene_variant MELA-AU 7 120602825 120602825 single base substitution T C intron_variant MELA-AU 7 120602825 120602825 single base substitution T C upstream_gene_variant MELA-AU 7 120603157 120603157 single base substitution C T intron_variant MELA-AU 7 120603157 120603157 single base substitution C T upstream_gene_variant MELA-AU 7 120603804 120603804 single base substitution C T intron_variant MELA-AU 7 120603804 120603804 single base substitution C T upstream_gene_variant MELA-AU 7 120603863 120603863 single base substitution C A intron_variant MELA-AU 7 120603863 120603863 single base substitution C A upstream_gene_variant MELA-AU 7 120604156 120604156 single base substitution T A intron_variant MELA-AU 7 120604156 120604156 single base substitution T A upstream_gene_variant MELA-AU 7 120604199 120604199 single base substitution T C intron_variant MELA-AU 7 120604199 120604199 single base substitution T C upstream_gene_variant MELA-AU 7 120604771 120604771 single base substitution T C intron_variant MELA-AU 7 120604771 120604771 single base substitution T C upstream_gene_variant MELA-AU 7 120605930 120605930 single base substitution C T intron_variant MELA-AU 7 120605930 120605930 single base substitution C T upstream_gene_variant MELA-AU 7 120606240 120606240 single base substitution C T intron_variant MELA-AU 7 120606240 120606240 single base substitution C T upstream_gene_variant MELA-AU 7 120606279 120606279 single base substitution C T intron_variant MELA-AU 7 120606279 120606279 single base substitution C T upstream_gene_variant MELA-AU 7 120606702 120606702 single base substitution T A 3_prime_UTR_variant MELA-AU 7 120606702 120606702 single base substitution T A synonymous_variant P114P 342T>A MELA-AU 7 120606702 120606702 single base substitution T A synonymous_variant P129P 387T>A MELA-AU 7 120606702 120606702 single base substitution T A upstream_gene_variant MELA-AU 7 120607032 120607032 single base substitution C T intron_variant MELA-AU 7 120607032 120607032 single base substitution C T upstream_gene_variant MELA-AU 7 120607327 120607327 single base substitution T A intron_variant MELA-AU 7 120607327 120607327 single base substitution T A upstream_gene_variant MELA-AU 7 120608446 120608446 single base substitution C T intron_variant MELA-AU 7 120608854 120608854 single base substitution C T intron_variant MELA-AU 7 120610032 120610032 single base substitution G A intron_variant MELA-AU 7 120610296 120610296 single base substitution G C intron_variant MELA-AU 7 120610735 120610741 deletion of <=200bp TTTTCAG - splice_acceptor_variant MELA-AU 7 120610781 120610781 single base substitution C T 3_prime_UTR_variant MELA-AU 7 120610781 120610781 single base substitution C T exon_variant MELA-AU 7 120610781 120610781 single base substitution C T synonymous_variant S301S 903C>T MELA-AU 7 120610781 120610781 single base substitution C T synonymous_variant S316S 948C>T MELA-AU 7 120611053 120611053 single base substitution T G downstream_gene_variant MELA-AU 7 120611053 120611053 single base substitution T G intron_variant MELA-AU 7 120611323 120611323 single base substitution C T downstream_gene_variant MELA-AU 7 120611323 120611323 single base substitution C T intron_variant MELA-AU 7 120611481 120611481 single base substitution C T downstream_gene_variant MELA-AU 7 120611481 120611481 single base substitution C T intron_variant MELA-AU 7 120612665 120612665 single base substitution C T downstream_gene_variant MELA-AU 7 120612665 120612665 single base substitution C T intron_variant MELA-AU 7 120613315 120613315 single base substitution C T downstream_gene_variant MELA-AU 7 120613315 120613315 single base substitution C T intron_variant MELA-AU 7 120613476 120613476 single base substitution C T downstream_gene_variant MELA-AU 7 120613476 120613476 single base substitution C T intron_variant MELA-AU 7 120615186 120615186 single base substitution C T 3_prime_UTR_variant MELA-AU 7 120615186 120615186 single base substitution C T downstream_gene_variant MELA-AU 7 120616257 120616257 single base substitution C T 3_prime_UTR_variant MELA-AU 7 120616257 120616257 single base substitution C T downstream_gene_variant MELA-AU 7 120616352 120616352 single base substitution T C 3_prime_UTR_variant MELA-AU 7 120616352 120616352 single base substitution T C downstream_gene_variant MELA-AU 7 120616602 120616602 single base substitution A G 3_prime_UTR_variant MELA-AU 7 120616602 120616602 single base substitution A G downstream_gene_variant MELA-AU 7 120617280 120617280 single base substitution G T downstream_gene_variant MELA-AU 7 120618233 120618233 single base substitution C T downstream_gene_variant MELA-AU 7 120618481 120618481 single base substitution C T downstream_gene_variant MELA-AU 7 120618760 120618760 single base substitution C T downstream_gene_variant MELA-AU 7 120618815 120618815 single base substitution C T downstream_gene_variant MELA-AU 7 120619136 120619136 single base substitution C A downstream_gene_variant MELA-AU 7 120619635 120619635 single base substitution T C downstream_gene_variant MELA-AU 7 120619948 120619948 single base substitution A T downstream_gene_variant MELA-AU 7 120620067 120620067 single base substitution T C downstream_gene_variant MELA-AU 7 120620417 120620417 single base substitution A T downstream_gene_variant MELA-AU 7 120620845 120620845 single base substitution T G downstream_gene_variant MELA-AU 7 120621523 120621523 single base substitution G A downstream_gene_variant ORCA-IN 7 120591968 120591968 single base substitution C T intron_variant ORCA-IN 7 120614811 120614811 single base substitution C T 3_prime_UTR_variant ORCA-IN 7 120614811 120614811 single base substitution C T downstream_gene_variant ORCA-IN 7 120614811 120614811 single base substitution C T synonymous_variant C375C 1125C>T ORCA-IN 7 120614811 120614811 single base substitution C T synonymous_variant C390C 1170C>T OV-AU 7 120587789 120587789 single base substitution C T upstream_gene_variant OV-AU 7 120590822 120590822 single base substitution T C 5_prime_UTR_variant OV-AU 7 120590822 120590822 single base substitution T C upstream_gene_variant OV-AU 7 120591133 120591133 single base substitution C G intron_variant OV-AU 7 120591133 120591133 single base substitution C G upstream_gene_variant OV-AU 7 120594578 120594578 single base substitution G A intron_variant OV-AU 7 120594953 120594953 single base substitution A C intron_variant PACA-AU 7 120594290 120594290 single base substitution G C intron_variant PACA-AU 7 120608545 120608545 single base substitution A G intron_variant PACA-AU 7 120612851 120612851 single base substitution G T downstream_gene_variant PACA-AU 7 120612851 120612851 single base substitution G T intron_variant PACA-CA 7 120587855 120587855 single base substitution A C upstream_gene_variant PACA-CA 7 120590454 120590454 single base substitution C T upstream_gene_variant PACA-CA 7 120590724 120590724 single base substitution G T upstream_gene_variant PACA-CA 7 120593707 120593707 deletion of <=200bp T - intron_variant PACA-CA 7 120594805 120594805 single base substitution T A intron_variant PACA-CA 7 120595412 120595412 single base substitution A G intron_variant PACA-CA 7 120595731 120595731 single base substitution T C 3_prime_UTR_variant PACA-CA 7 120595731 120595731 single base substitution T C intron_variant PACA-CA 7 120600130 120600131 deletion of <=200bp GT - downstream_gene_variant PACA-CA 7 120600130 120600131 deletion of <=200bp GT - intron_variant PACA-CA 7 120604810 120604810 single base substitution G C intron_variant PACA-CA 7 120604810 120604810 single base substitution G C missense_variant L79F 237G>C PACA-CA 7 120604810 120604810 single base substitution G C missense_variant L94F 282G>C PACA-CA 7 120604810 120604810 single base substitution G C upstream_gene_variant PACA-CA 7 120621016 120621016 single base substitution A T downstream_gene_variant PBCA-DE 7 120592292 120592292 single base substitution G T intron_variant PBCA-DE 7 120608665 120608665 single base substitution G A intron_variant PBCA-DE 7 120616469 120616469 single base substitution G A 3_prime_UTR_variant PBCA-DE 7 120616469 120616469 single base substitution G A downstream_gene_variant PBCA-DE 7 120621604 120621604 single base substitution A T downstream_gene_variant PRAD-CA 7 120590816 120590816 single base substitution C T 5_prime_UTR_variant PRAD-CA 7 120590816 120590816 single base substitution C T upstream_gene_variant PRAD-CA 7 120593898 120593898 single base substitution T C intron_variant PRAD-CA 7 120598623 120598623 single base substitution A G downstream_gene_variant PRAD-CA 7 120598623 120598623 single base substitution A G intron_variant PRAD-UK 7 120591588 120591588 single base substitution G T intron_variant PRAD-UK 7 120592680 120592680 single base substitution T G intron_variant PRAD-UK 7 120607601 120607601 single base substitution C G 3_prime_UTR_variant PRAD-UK 7 120607601 120607601 single base substitution C G exon_variant PRAD-UK 7 120607601 120607601 single base substitution C G missense_variant T137S 410C>G PRAD-UK 7 120607601 120607601 single base substitution C G missense_variant T152S 455C>G RECA-EU 7 120601528 120601528 single base substitution T C downstream_gene_variant RECA-EU 7 120601528 120601528 single base substitution T C intron_variant RECA-EU 7 120604840 120604840 single base substitution T A intron_variant RECA-EU 7 120604840 120604840 single base substitution T A missense_variant F104L 312T>A RECA-EU 7 120604840 120604840 single base substitution T A missense_variant F89L 267T>A RECA-EU 7 120604840 120604840 single base substitution T A upstream_gene_variant RECA-EU 7 120606739 120606739 single base substitution A T 3_prime_UTR_variant RECA-EU 7 120606739 120606739 single base substitution A T missense_variant T127S 379A>T RECA-EU 7 120606739 120606739 single base substitution A T missense_variant T142S 424A>T RECA-EU 7 120606739 120606739 single base substitution A T upstream_gene_variant RECA-EU 7 120616275 120616275 single base substitution T C 3_prime_UTR_variant RECA-EU 7 120616275 120616275 single base substitution T C downstream_gene_variant SKCA-BR 7 120587638 120587638 single base substitution G T upstream_gene_variant SKCA-BR 7 120589372 120589372 single base substitution C T upstream_gene_variant SKCA-BR 7 120590501 120590501 single base substitution G A upstream_gene_variant SKCA-BR 7 120590716 120590716 single base substitution G A upstream_gene_variant SKCA-BR 7 120591215 120591215 single base substitution C T 5_prime_UTR_variant SKCA-BR 7 120591215 120591215 single base substitution C T splice_region_variant SKCA-BR 7 120593204 120593204 single base substitution T A intron_variant SKCA-BR 7 120593205 120593205 single base substitution T A intron_variant SKCA-BR 7 120599738 120599738 single base substitution C T downstream_gene_variant SKCA-BR 7 120599738 120599738 single base substitution C T intron_variant SKCA-BR 7 120600575 120600575 single base substitution C T downstream_gene_variant SKCA-BR 7 120600575 120600575 single base substitution C T intron_variant SKCA-BR 7 120603644 120603644 single base substitution C T intron_variant SKCA-BR 7 120603644 120603644 single base substitution C T upstream_gene_variant SKCA-BR 7 120607198 120607198 single base substitution T C intron_variant SKCA-BR 7 120607198 120607198 single base substitution T C upstream_gene_variant SKCA-BR 7 120611821 120611821 single base substitution C T downstream_gene_variant SKCA-BR 7 120611821 120611821 single base substitution C T intron_variant SKCA-BR 7 120618466 120618466 single base substitution C T downstream_gene_variant SKCM-US 7 120590817 120590817 single base substitution T C 5_prime_UTR_variant SKCM-US 7 120590817 120590817 single base substitution T C upstream_gene_variant SKCM-US 7 120590960 120590960 single base substitution C T exon_variant SKCM-US 7 120590960 120590960 single base substitution C T synonymous_variant L4L 10C>T SKCM-US 7 120590960 120590960 single base substitution C T upstream_gene_variant SKCM-US 7 120608053 120608053 single base substitution C T 3_prime_UTR_variant SKCM-US 7 120608053 120608053 single base substitution C T exon_variant SKCM-US 7 120608053 120608053 single base substitution C T synonymous_variant L193L 577C>T SKCM-US 7 120608053 120608053 single base substitution C T synonymous_variant L208L 622C>T SKCM-US 7 120609222 120609222 single base substitution C T 3_prime_UTR_variant SKCM-US 7 120609222 120609222 single base substitution C T exon_variant SKCM-US 7 120609222 120609222 single base substitution C T missense_variant S276L 827C>T SKCM-US 7 120609222 120609222 single base substitution C T missense_variant S291L 872C>T SKCM-US 7 120609246 120609246 single base substitution G T 3_prime_UTR_variant SKCM-US 7 120609246 120609246 single base substitution G T exon_variant SKCM-US 7 120609246 120609246 single base substitution G T missense_variant G284V 851G>T SKCM-US 7 120609246 120609246 single base substitution G T missense_variant G299V 896G>T SKCM-US 7 120609248 120609248 single base substitution C T 3_prime_UTR_variant SKCM-US 7 120609248 120609248 single base substitution C T exon_variant SKCM-US 7 120609248 120609248 single base substitution C T stop_gained R285* 853C>T SKCM-US 7 120609248 120609248 single base substitution C T stop_gained R300* 898C>T SKCM-US 7 120610780 120610780 single base substitution C T 3_prime_UTR_variant SKCM-US 7 120610780 120610780 single base substitution C T exon_variant SKCM-US 7 120610780 120610780 single base substitution C T missense_variant S301F 902C>T SKCM-US 7 120610780 120610780 single base substitution C T missense_variant S316F 947C>T SKCM-US 7 120613283 120613283 insertion of <=200bp - G 3_prime_UTR_variant SKCM-US 7 120613283 120613283 insertion of <=200bp - G downstream_gene_variant SKCM-US 7 120613283 120613283 insertion of <=200bp - G frameshift_variant C361V? SKCM-US 7 120613283 120613283 insertion of <=200bp - G frameshift_variant C376V? STAD-US 7 120593395 120593395 single base substitution C A exon_variant STAD-US 7 120593395 120593395 single base substitution C A missense_variant F31L 93C>A STAD-US 7 120593395 120593395 single base substitution C A missense_variant F46L 138C>A STAD-US 7 120593419 120593419 single base substitution A G exon_variant STAD-US 7 120593419 120593419 single base substitution A G synonymous_variant K39K 117A>G STAD-US 7 120593419 120593419 single base substitution A G synonymous_variant K54K 162A>G UCEC-US 7 120591238 120591238 single base substitution G T exon_variant UCEC-US 7 120591238 120591238 single base substitution G T missense_variant D17Y 49G>T UCEC-US 7 120591238 120591238 single base substitution G T missense_variant D2Y 4G>T UCEC-US 7 120608061 120608072 deletion of <=200bp CTATAACATTGG - 3_prime_UTR_variant UCEC-US 7 120608061 120608072 deletion of <=200bp CTATAACATTGG - exon_variant UCEC-US 7 120608061 120608072 deletion of <=200bp CTATAACATTGG - inframe_deletion SYNIG195S UCEC-US 7 120608061 120608072 deletion of <=200bp CTATAACATTGG - inframe_deletion SYNIG210S UCEC-US 7 120609078 120609078 single base substitution G A 3_prime_UTR_variant UCEC-US 7 120609078 120609078 single base substitution G A exon_variant UCEC-US 7 120609078 120609078 single base substitution G A missense_variant R228Q 683G>A UCEC-US 7 120609078 120609078 single base substitution G A missense_variant R243Q 728G>A UCEC-US 7 120609089 120609089 single base substitution A C 3_prime_UTR_variant UCEC-US 7 120609089 120609089 single base substitution A C exon_variant UCEC-US 7 120609089 120609089 single base substitution A C missense_variant S232R 694A>C UCEC-US 7 120609089 120609089 single base substitution A C missense_variant S247R 739A>C UCEC-US 7 120609222 120609222 single base substitution C A 3_prime_UTR_variant UCEC-US 7 120609222 120609222 single base substitution C A exon_variant UCEC-US 7 120609222 120609222 single base substitution C A stop_gained S276* 827C>A UCEC-US 7 120609222 120609222 single base substitution C A stop_gained S291* 872C>A UCEC-US 7 120610860 120610860 single base substitution C T 3_prime_UTR_variant UCEC-US 7 120610860 120610860 single base substitution C T exon_variant UCEC-US 7 120610860 120610860 single base substitution C T missense_variant P328S 982C>T UCEC-US 7 120610860 120610860 single base substitution C T missense_variant P343S 1027C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Pat_16_B COSM5871672 c.478C>T p.H160Y Substitution - Missense 7:120967570-120967570 + TCGA-13-1504-01 COSM71166 c.809G>C p.R270T Substitution - Missense 7:120969105-120969105 + PD11742a COSM5776403 c.288G>C p.K96N Substitution - Missense 7:120964762-120964762 + T155 COSM275569 c.563G>A p.R188Q Substitution - Missense 7:120967940-120967940 + PT37 COSM5919341 c.389C>T p.S130L Substitution - Missense 7:120966650-120966650 + ATL053 COSM5710323 c.910_912delAAC p.N306delN Deletion - In frame 7:120970689-120970691 + 8065697 COSM3394495 c.773A>G p.N258S Substitution - Missense 7:120969069-120969069 + TCGA-66-2758-01 COSM744880 c.368C>A p.S123Y Substitution - Missense 7:120966629-120966629 + BD175T COSM5507798 c.565_567delAAT p.N191delN Deletion - In frame 7:120967942-120967944 + TCGA-CA-6718-01 COSM1447554 c.542A>C p.K181T Substitution - Missense 7:120967634-120967634 + TCGA-G2-A2EL-01 COSM1312604 c.85G>A p.D29N Substitution - Missense 7:120951220-120951220 + LUAD-RT-S01699 COSM378500 c.475G>T p.D159Y Substitution - Missense 7:120967567-120967567 + C0053T COSM4155386 c.312T>A p.F104L Substitution - Missense 7:120964786-120964786 + TCGA-FS-A1ZW-06 COSM3632397 c.947C>T p.S316F Substitution - Missense 7:120970726-120970726 + RK092_C01 COSM1635076 c.557-2A>T p.? Unknown 7:120967932-120967932 + TCGA-FS-A1Z3-06 COSM3632394 c.10C>T p.L4L Substitution - coding silent 7:120950906-120950906 + TCGA-AA-A00N-01 COSM275569 c.563G>A p.R188Q Substitution - Missense 7:120967940-120967940 + TCGA-AP-A059-01 COSM1084547 c.49G>T p.D17Y Substitution - Missense 7:120951184-120951184 + E22 COSM1666235 c.967T>A p.S323T Substitution - Missense 7:120970746-120970746 + TCGA-BC-A3KF-01 COSM4927839 c.477T>C p.D159D Substitution - coding silent 7:120967569-120967569 + RK207_C01 COSM3745498 c.1048C>G p.Q350E Substitution - Missense 7:120970827-120970827 + TCGA-D8-A1J8-01 COSM275569 c.563G>A p.R188Q Substitution - Missense 7:120967940-120967940 + HCT8 COSM4635468 c.720G>A p.K240K Substitution - coding silent 7:120969016-120969016 + Gp5D COSM3257620 c.271G>A p.D91N Substitution - Missense 7:120964745-120964745 + LP6005500-DNA_B03 COSM5033190 c.84G>A p.M28I Substitution - Missense 7:120951219-120951219 + PASLZM COSM5006371 c.890G>A p.R297Q Substitution - Missense 7:120969186-120969186 + 9227_T COSM5039783 c.787G>A p.G263R Substitution - Missense 7:120969083-120969083 + LUAD-S01467 COSM404627 c.243G>T p.Q81H Substitution - Missense 7:120955600-120955600 + Pat_41_B COSM5871673 c.686C>T p.A229V Substitution - Missense 7:120968063-120968063 + LUAD-D01751 COSM338371 c.608A>T p.N203I Substitution - Missense 7:120967985-120967985 + TCGA-B5-A0JZ-01 COSM1084548 c.630_641del12 p.Y211_G214delYNIG Deletion - In frame 7:120968007-120968018 + NB07C COSM1236445 c.1154G>T p.W385L Substitution - Missense 7:120974741-120974741 + TCGA-D1-A17Q-01 COSM1084549 c.728G>A p.R243Q Substitution - Missense 7:120969024-120969024 + HCC068T COSM5824418 c.138C>T p.F46F Substitution - coding silent 7:120953341-120953341 + T3724 COSM4692496 c.171G>A p.W57* Substitution - Nonsense 7:120953374-120953374 + PT48 COSM5039783 c.787G>A p.G263R Substitution - Missense 7:120969083-120969083 + HCC31T COSM1622254 c.557-4A>G p.? Unknown 7:120967930-120967930 + TCGA-AA-3542-01 COSM292021 c.72A>T p.E24D Substitution - Missense 7:120951207-120951207 + EGC15 COSM5062140 c.679A>G p.M227V Substitution - Missense 7:120968056-120968056 + TCGA-G7-6796-01 COSM3995306 c.209A>G p.Y70C Substitution - Missense 7:120955566-120955566 + TCGA-FW-A3R5-06 COSM3922569 c.872C>T p.S291L Substitution - Missense 7:120969168-120969168 + ESO-887 COSM1254834 c.96G>T p.V32V Substitution - coding silent 7:120951231-120951231 + 2277223 COSM4422880 c.34G>C p.E12Q Substitution - Missense 7:120951169-120951169 + TCGA-AP-A059-01 COSM1084552 c.1027C>T p.P343S Substitution - Missense 7:120970806-120970806 + ME020T COSM225605 c.503C>T p.S168F Substitution - Missense 7:120967595-120967595 + ATL024 COSM5710324 c.920A>C p.K307T Substitution - Missense 7:120970699-120970699 + TCGA-B5-A0JY-01 COSM1084550 c.739A>C p.S247R Substitution - Missense 7:120969035-120969035 + ACINAR25 COSM1732978 c.677C>A p.T226N Substitution - Missense 7:120968054-120968054 + HCC31 COSM1622254 c.557-4A>G p.? Unknown 7:120967930-120967930 + Pat_16_A COSM5871672 c.478C>T p.H160Y Substitution - Missense 7:120967570-120967570 + ATL051 COSM5710325 c.1081C>T p.R361* Substitution - Nonsense 7:120970860-120970860 + ESO-1133 COSM1254833 c.219G>T p.L73F Substitution - Missense 7:120955576-120955576 + NB07C COSM1236446 c.1124G>T p.G375V Substitution - Missense 7:120973227-120973227 + PT08_2 COSM5894435 c.700C>T p.Q234* Substitution - Nonsense 7:120968077-120968077 + TCGA-CG-5721-01 COSM3877554 c.162A>G p.K54K Substitution - coding silent 7:120953365-120953365 + LS411 COSM3257619 c.215_216insT p.L73fs*6 Insertion - Frameshift 7:120955572-120955573 + 073T COSM1730605 c.44C>T p.P15L Substitution - Missense 7:120951179-120951179 + TCGA-ER-A194-01 COSM3632396 c.898C>T p.R300* Substitution - Nonsense 7:120969194-120969194 + C0010T COSM4155387 c.424A>T p.T142S Substitution - Missense 7:120966685-120966685 + TCGA-ER-A194-01 COSM3632395 c.896G>T p.G299V Substitution - Missense 7:120969192-120969192 + S02360 COSM5696258 c.464A>G p.H155R Substitution - Missense 7:120967556-120967556 + TCGA-FW-A3R5-06 COSM3922568 c.622C>T p.L208L Substitution - coding silent 7:120967999-120967999 + CSCC-6-T COSM4514102 c.962C>T p.S321F Substitution - Missense 7:120970741-120970741 + 40M COSM5585477 c.385C>T p.P129S Substitution - Missense 7:120966646-120966646 + CSCC-20-T COSM4499181 c.536C>T p.A179V Substitution - Missense 7:120967628-120967628 + SW480 COSM4655997 c.1051G>A p.V351I Substitution - Missense 7:120970830-120970830 + ccRCC-95 COSM1662276 c.337G>T p.A113S Substitution - Missense 7:120964811-120964811 + SC_9026 COSM5552766 c.373G>T p.E125* Substitution - Nonsense 7:120966634-120966634 + TCGA-AD-6895-01 COSM1447555 c.706A>G p.T236A Substitution - Missense 7:120968083-120968083 + TCGA-BR-8680-01 COSM3877553 c.138C>A p.F46L Substitution - Missense 7:120953341-120953341 + TCGA-DK-A1A3-01 COSM421626 c.1160A>C p.H387P Substitution - Missense 7:120974747-120974747 + ESO-859 COSM1239134 c.528G>A p.T176T Substitution - coding silent 7:120967620-120967620 + 0026_CRUK_PC_0026_T1_DNA COSM5421615 c.455C>G p.T152S Substitution - Missense 7:120967547-120967547 + PCSI_0090_Pa_P COSM3381778 c.282G>C p.L94F Substitution - Missense 7:120964756-120964756 + TCGA-A6-A565-01 COSM5095977 c.639T>C p.I213I Substitution - coding silent 7:120968016-120968016 + pfg068T COSM4760691 c.364C>T p.R122* Substitution - Nonsense 7:120964838-120964838 + OSCC-GB_01390111 COSM5954530 c.1170C>T p.C390C Substitution - coding silent 7:120974757-120974757 + TCGA-46-6026-01 COSM744879 c.593A>G p.N198S Substitution - Missense 7:120967970-120967970 + TCGA-18-3411-01 COSM744881 c.118G>C p.E40Q Substitution - Missense 7:120953321-120953321 + TCGA-AX-A0J0-01 COSM1084551 c.872C>A p.S291* Substitution - Nonsense 7:120969168-120969168 + TCGA-G2-A2ES-01 COSM1312605 c.966A>T p.L322F Substitution - Missense 7:120970745-120970745 + HX17T COSM744879 c.593A>G p.N198S Substitution - Missense 7:120967970-120967970 + 260211 COSM3725811 c.1046G>T p.S349I Substitution - Missense 7:120970825-120970825 + S0078 COSM5884467 c.138C>G p.F46L Substitution - Missense 7:120953341-120953341 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.489802;Hs.489811 7q31 607493

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.H387P c.1160A>C 7 120614801 BLCA A G Missense p.N198S c.593A>G 7 120608024 LUSC A G Missense p.T193A c.577A>G 7 120608008 LUAD A G Synonymous p.L4L c.12A>G 7 120590962 HNSC A T Missense p.E24D c.72A>T 7 120591261 COREAD A T Missense p.L322F c.966A>T 7 120610799 BLCA C A Missense p.S123Y c.368C>A 7 120606683 LUSC CTATAACATTGG - InFrameDeletion p.Y211_G214delYNIG c.632_643delATAACATTGGCT 7 120608061 UCEC C T Missense p.P132S c.394C>T 7 120606709 CM C T Missense p.S168F c.503C>T 7 120607649 CM C T Missense p.S316F c.947C>T 7 120610780 CM C T Nonsense p.R300* c.898C>T 7 120609248 CM C T Synonymous p.L4L c.10C>T 7 120590960 CM G A Missense p.D29N c.85G>A 7 120591274 BLCA G A Synonymous p.T176T c.528G>A 7 120607674 ESCA G C Missense p.D380H c.1138G>C 7 120613295 HNSC G C Missense p.E40Q c.118G>C 7 120593375 LUSC G C Missense p.G223A c.668G>C 7 120608099 LUAD G C Missense p.R270T c.809G>C 7 120609159 OV - G Frameshift p.C376Wfs*2 c.1127dupG 7 120613284 CM G T 5-UTRSNV . c.1-91G>T 7 120590860 ESCA G T Missense p.G299V c.896G>T 7 120609246 CM G T Missense p.G375V c.1124G>T 7 120613281 NB G T Missense p.L73F c.219G>T 7 120595630 ESCA G T Missense p.W385L c.1154G>T 7 120614795 NB G T Synonymous p.V32V c.96G>T 7 120591285 ESCA T C 5-UTRSNV . c.1-134T>C 7 120590817 PRAD