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 1 2121153 2121153 + Missense_Mutation SNP A A G TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 g.chr1:2121153A>G c.538T>C c.(538-540)Tgg>Cgg p.W180R BLCA 1 2121162 2121162 + Missense_Mutation SNP C C T TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr1:2121162C>T c.529G>A c.(529-531)Gac>Aac p.D177N BLCA 1 2121165 2121165 + Missense_Mutation SNP C C T TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr1:2121165C>T c.526G>A c.(526-528)Gaa>Aaa p.E176K BLCA 1 2125221 2125221 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr1:2125221C>T c.327G>A c.(325-327)ggG>ggA p.G109G BLCA 1 2125482 2125482 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:2125482C>T c.153G>A c.(151-153)ctG>ctA p.L51L BLCA 1 2125504 2125504 + Missense_Mutation SNP A A T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 g.chr1:2125504A>T c.131T>A c.(130-132)cTg>cAg p.L44Q BRCA 1 2125495 2125495 + Missense_Mutation SNP A A G TCGA-BH-A18N-01A-11D-A12B-09 TCGA-BH-A18N-11A-43D-A12B-09 g.chr1:2125495A>G c.140T>C c.(139-141)gTg>gCg p.V47A BRCA 1 2129485 2129485 + Frame_Shift_Del DEL G G - TCGA-E9-A1NH-01A-11D-A14G-09 TCGA-E9-A1NH-11A-33D-A14G-09 g.chr1:2129485delG c.332delC c.(331-333)ccgfs p.P111fs COAD 1 2121149 2121149 + Silent SNP C C T TCGA-CM-6677-01A-11D-1835-10 TCGA-CM-6677-10A-01D-1835-10 g.chr1:2121149C>T c.542G>A c.(541-543)tGa>tAa p.*181* COADREAD 1 2121149 2121149 + Silent SNP C C T TCGA-CM-6677-01A-11D-1835-10 TCGA-CM-6677-10A-01D-1835-10 g.chr1:2121149C>T c.542G>A c.(541-543)tGa>tAa p.*181* GBM 1 2125232 2125232 + Missense_Mutation SNP C C T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr1:2125232C>T c.316G>A c.(316-318)Ggg>Agg p.G106R GBMLGG 1 2125232 2125232 + Missense_Mutation SNP C C T TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr1:2125232C>T c.316G>A c.(316-318)Ggg>Agg p.G106R GBMLGG 1 2125253 2125253 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:2125253G>A c.295C>T c.(295-297)Cgt>Tgt p.R99C HNSC 1 2125497 2125497 + Silent SNP C C A TCGA-BA-A6DI-01A-11D-A30E-08 TCGA-BA-A6DI-10A-01D-A30H-08 g.chr1:2125497C>A c.138G>T c.(136-138)acG>acT p.T46T KIPAN 1 2116880 2116880 + Missense_Mutation SNP T T A TCGA-4A-A93X-01A-11D-A36X-10 TCGA-4A-A93X-10A-01D-A370-10 g.chr1:2116880T>A c.281A>T c.(280-282)gAg>gTg p.E94V KIPAN 1 2121164 2121164 + Missense_Mutation SNP T T G TCGA-CJ-4888-01A-01D-1373-10 TCGA-CJ-4888-11A-01D-1373-10 g.chr1:2121164T>G c.527A>C c.(526-528)gAa>gCa p.E176A KIPAN 1 2121164 2121164 + Missense_Mutation SNP T T G TCGA-CJ-4895-01A-01D-1373-10 TCGA-CJ-4895-11A-01D-1373-10 g.chr1:2121164T>G c.527A>C c.(526-528)gAa>gCa p.E176A KIPAN 1 2125123 2125123 + Missense_Mutation SNP G G T TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr1:2125123G>T c.425C>A c.(424-426)gCg>gAg p.A142E KIRC 1 2121164 2121164 + Missense_Mutation SNP T T G TCGA-CJ-4888-01A-01D-1373-10 TCGA-CJ-4888-11A-01D-1373-10 g.chr1:2121164T>G c.527A>C c.(526-528)gAa>gCa p.E176A KIRC 1 2121164 2121164 + Missense_Mutation SNP T T G TCGA-CJ-4895-01A-01D-1373-10 TCGA-CJ-4895-11A-01D-1373-10 g.chr1:2121164T>G c.527A>C c.(526-528)gAa>gCa p.E176A KIRP 1 2116880 2116880 + Missense_Mutation SNP T T A TCGA-4A-A93X-01A-11D-A36X-10 TCGA-4A-A93X-10A-01D-A370-10 g.chr1:2116880T>A c.281A>T c.(280-282)gAg>gTg p.E94V KIRP 1 2125123 2125123 + Missense_Mutation SNP G G T TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr1:2125123G>T c.425C>A c.(424-426)gCg>gAg p.A142E LGG 1 2125253 2125253 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:2125253G>A c.295C>T c.(295-297)Cgt>Tgt p.R99C PCPG 1 2125338 2125338 + Silent SNP G G A TCGA-WB-A81G-01A-11D-A35I-08 TCGA-WB-A81G-10A-01D-A35G-08 g.chr1:2125338G>A c.210C>T c.(208-210)tgC>tgT p.C70C SARC 1 2125187 2125187 + Missense_Mutation SNP G G A TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 g.chr1:2125187G>A c.361C>T c.(361-363)Cgc>Tgc p.R121C SKCM 1 2125233 2125233 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 g.chr1:2125233G>A c.315C>T c.(313-315)caC>caT p.H105H SKCM 1 2125234 2125234 + Missense_Mutation SNP T T A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 g.chr1:2125234T>A c.314A>T c.(313-315)cAc>cTc p.H105L SKCM 1 2125571 2125571 + Splice_Site SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr1:2125571G>A c.64C>T c.(64-66)Cct>Tct p.P22S

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 1 2121153 2121153 single base substitution A G 3_prime_UTR_variant BLCA-US 1 2121153 2121153 single base substitution A G downstream_gene_variant BLCA-US 1 2121153 2121153 single base substitution A G exon_variant BLCA-US 1 2121153 2121153 single base substitution A G intron_variant BLCA-US 1 2121153 2121153 single base substitution A G missense_variant W180R 538T>C BLCA-US 1 2121153 2121153 single base substitution A G missense_variant W283R 847T>C BLCA-US 1 2121153 2121153 single base substitution A G splice_region_variant BLCA-US 1 2125221 2125221 single base substitution C T 5_prime_UTR_variant BLCA-US 1 2125221 2125221 single base substitution C T downstream_gene_variant BLCA-US 1 2125221 2125221 single base substitution C T exon_variant BLCA-US 1 2125221 2125221 single base substitution C T missense_variant G64D 191G>A BLCA-US 1 2125221 2125221 single base substitution C T synonymous_variant G108G 324G>A BLCA-US 1 2125221 2125221 single base substitution C T synonymous_variant G109G 327G>A BLCA-US 1 2125221 2125221 single base substitution C T synonymous_variant G212G 636G>A BLCA-US 1 2125482 2125482 single base substitution C T 5_prime_UTR_variant BLCA-US 1 2125482 2125482 single base substitution C T downstream_gene_variant BLCA-US 1 2125482 2125482 single base substitution C T exon_variant BLCA-US 1 2125482 2125482 single base substitution C T intron_variant BLCA-US 1 2125482 2125482 single base substitution C T synonymous_variant L154L 462G>A BLCA-US 1 2125482 2125482 single base substitution C T synonymous_variant L50L 150G>A BLCA-US 1 2125482 2125482 single base substitution C T synonymous_variant L51L 153G>A BLCA-US 1 2125504 2125504 single base substitution A T 5_prime_UTR_variant BLCA-US 1 2125504 2125504 single base substitution A T downstream_gene_variant BLCA-US 1 2125504 2125504 single base substitution A T exon_variant BLCA-US 1 2125504 2125504 single base substitution A T intron_variant BLCA-US 1 2125504 2125504 single base substitution A T missense_variant L147Q 440T>A BLCA-US 1 2125504 2125504 single base substitution A T missense_variant L43Q 128T>A BLCA-US 1 2125504 2125504 single base substitution A T missense_variant L44Q 131T>A BRCA-EU 1 2111680 2111680 single base substitution C G downstream_gene_variant BRCA-EU 1 2112078 2112078 single base substitution C G downstream_gene_variant BRCA-EU 1 2112413 2112413 single base substitution T C downstream_gene_variant BRCA-EU 1 2113131 2113131 single base substitution G A downstream_gene_variant BRCA-EU 1 2115012 2115012 single base substitution G C downstream_gene_variant BRCA-EU 1 2117971 2117971 single base substitution G T downstream_gene_variant BRCA-EU 1 2117971 2117971 single base substitution G T intron_variant BRCA-EU 1 2118077 2118077 single base substitution C T downstream_gene_variant BRCA-EU 1 2118077 2118077 single base substitution C T intron_variant BRCA-EU 1 2118836 2118836 single base substitution C T downstream_gene_variant BRCA-EU 1 2118836 2118836 single base substitution C T intron_variant BRCA-EU 1 2120177 2120177 single base substitution G T downstream_gene_variant BRCA-EU 1 2120177 2120177 single base substitution G T intron_variant BRCA-EU 1 2121255 2121255 single base substitution C G downstream_gene_variant BRCA-EU 1 2121255 2121255 single base substitution C G exon_variant BRCA-EU 1 2121255 2121255 single base substitution C G intron_variant BRCA-EU 1 2123492 2123492 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 2123492 2123492 single base substitution C T exon_variant BRCA-EU 1 2123492 2123492 single base substitution C T intron_variant BRCA-EU 1 2123855 2123855 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 2123855 2123855 single base substitution C T exon_variant BRCA-EU 1 2123855 2123855 single base substitution C T intron_variant BRCA-EU 1 2123918 2123918 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 1 2123918 2123918 deletion of <=200bp T - exon_variant BRCA-EU 1 2123918 2123918 deletion of <=200bp T - intron_variant BRCA-EU 1 2124169 2124169 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 2124169 2124169 single base substitution C T exon_variant BRCA-EU 1 2124169 2124169 single base substitution C T intron_variant BRCA-EU 1 2124410 2124410 single base substitution T C 5_prime_UTR_variant BRCA-EU 1 2124410 2124410 single base substitution T C exon_variant BRCA-EU 1 2124410 2124410 single base substitution T C intron_variant BRCA-EU 1 2124410 2124410 single base substitution T C missense_variant K158E 472A>G BRCA-EU 1 2124514 2124514 single base substitution C T downstream_gene_variant BRCA-EU 1 2124514 2124514 single base substitution C T exon_variant BRCA-EU 1 2124514 2124514 single base substitution C T intron_variant BRCA-EU 1 2125018 2125018 single base substitution C T downstream_gene_variant BRCA-EU 1 2125018 2125018 single base substitution C T exon_variant BRCA-EU 1 2125018 2125018 single base substitution C T intron_variant BRCA-EU 1 2125050 2125050 single base substitution G C downstream_gene_variant BRCA-EU 1 2125050 2125050 single base substitution G C exon_variant BRCA-EU 1 2125050 2125050 single base substitution G C intron_variant BRCA-EU 1 2127448 2127448 single base substitution G A downstream_gene_variant BRCA-EU 1 2127448 2127448 single base substitution G A intron_variant BRCA-EU 1 2127448 2127448 single base substitution G A upstream_gene_variant BRCA-EU 1 2128982 2128982 single base substitution G C downstream_gene_variant BRCA-EU 1 2128982 2128982 single base substitution G C intron_variant BRCA-EU 1 2128982 2128982 single base substitution G C upstream_gene_variant BRCA-EU 1 2129138 2129138 single base substitution G T downstream_gene_variant BRCA-EU 1 2129138 2129138 single base substitution G T intron_variant BRCA-EU 1 2129138 2129138 single base substitution G T upstream_gene_variant BRCA-EU 1 2132788 2132788 single base substitution G A intron_variant BRCA-EU 1 2132788 2132788 single base substitution G A upstream_gene_variant BRCA-EU 1 2133730 2133730 single base substitution C A intron_variant BRCA-EU 1 2133730 2133730 single base substitution C A upstream_gene_variant BRCA-EU 1 2136955 2136955 single base substitution G T intron_variant BRCA-EU 1 2136955 2136955 single base substitution G T upstream_gene_variant BRCA-EU 1 2137124 2137124 single base substitution C T intron_variant BRCA-EU 1 2137124 2137124 single base substitution C T upstream_gene_variant BRCA-EU 1 2140315 2140315 single base substitution G C intron_variant BRCA-EU 1 2140315 2140315 single base substitution G C upstream_gene_variant BRCA-EU 1 2140870 2140870 single base substitution G C intron_variant BRCA-EU 1 2140870 2140870 single base substitution G C upstream_gene_variant BRCA-EU 1 2141068 2141068 single base substitution A G intron_variant BRCA-EU 1 2141068 2141068 single base substitution A G upstream_gene_variant BRCA-EU 1 2142098 2142098 single base substitution G T intron_variant BRCA-EU 1 2142098 2142098 single base substitution G T upstream_gene_variant BRCA-EU 1 2143581 2143581 single base substitution C T intron_variant BRCA-EU 1 2143581 2143581 single base substitution C T upstream_gene_variant BRCA-EU 1 2144080 2144080 single base substitution C G exon_variant BRCA-EU 1 2144080 2144080 single base substitution C G upstream_gene_variant BRCA-EU 1 2144265 2144265 single base substitution A C upstream_gene_variant BRCA-EU 1 2144720 2144720 single base substitution C G upstream_gene_variant BRCA-EU 1 2145198 2145198 single base substitution G A upstream_gene_variant BRCA-EU 1 2146015 2146015 single base substitution G A upstream_gene_variant BRCA-EU 1 2148390 2148390 single base substitution C A upstream_gene_variant BRCA-EU 1 2149012 2149012 single base substitution A T upstream_gene_variant BRCA-FR 1 2121393 2121393 single base substitution C T downstream_gene_variant BRCA-FR 1 2121393 2121393 single base substitution C T exon_variant BRCA-FR 1 2121393 2121393 single base substitution C T intron_variant BRCA-FR 1 2128982 2128982 single base substitution G C downstream_gene_variant BRCA-FR 1 2128982 2128982 single base substitution G C intron_variant BRCA-FR 1 2128982 2128982 single base substitution G C upstream_gene_variant BRCA-FR 1 2138786 2138786 single base substitution G A intron_variant BRCA-FR 1 2138786 2138786 single base substitution G A upstream_gene_variant BRCA-FR 1 2139455 2139455 single base substitution G A intron_variant BRCA-FR 1 2139455 2139455 single base substitution G A upstream_gene_variant BRCA-FR 1 2148380 2148380 single base substitution G A upstream_gene_variant BRCA-UK 1 2112413 2112413 single base substitution T C downstream_gene_variant BRCA-UK 1 2133730 2133730 single base substitution C A intron_variant BRCA-UK 1 2133730 2133730 single base substitution C A upstream_gene_variant BRCA-US 1 2125495 2125495 single base substitution A G 5_prime_UTR_variant BRCA-US 1 2125495 2125495 single base substitution A G downstream_gene_variant BRCA-US 1 2125495 2125495 single base substitution A G exon_variant BRCA-US 1 2125495 2125495 single base substitution A G intron_variant BRCA-US 1 2125495 2125495 single base substitution A G missense_variant V150A 449T>C BRCA-US 1 2125495 2125495 single base substitution A G missense_variant V46A 137T>C BRCA-US 1 2125495 2125495 single base substitution A G missense_variant V47A 140T>C BRCA-US 1 2129485 2129485 deletion of <=200bp G - downstream_gene_variant BRCA-US 1 2129485 2129485 deletion of <=200bp G - exon_variant BRCA-US 1 2129485 2129485 deletion of <=200bp G - frameshift_variant P111 BRCA-US 1 2129485 2129485 deletion of <=200bp G - upstream_gene_variant BTCA-JP 1 2113322 2113322 single base substitution G A downstream_gene_variant BTCA-JP 1 2114122 2114122 single base substitution G T downstream_gene_variant BTCA-JP 1 2116325 2116325 single base substitution G A 3_prime_UTR_variant BTCA-JP 1 2116325 2116325 single base substitution G A downstream_gene_variant BTCA-JP 1 2116325 2116325 single base substitution G A exon_variant BTCA-JP 1 2118736 2118736 single base substitution C T downstream_gene_variant BTCA-JP 1 2118736 2118736 single base substitution C T intron_variant BTCA-JP 1 2118737 2118737 single base substitution T C downstream_gene_variant BTCA-JP 1 2118737 2118737 single base substitution T C intron_variant BTCA-JP 1 2121714 2121714 single base substitution A C downstream_gene_variant BTCA-JP 1 2121714 2121714 single base substitution A C exon_variant BTCA-JP 1 2121714 2121714 single base substitution A C intron_variant BTCA-JP 1 2122081 2122081 single base substitution G A downstream_gene_variant BTCA-JP 1 2122081 2122081 single base substitution G A exon_variant BTCA-JP 1 2122081 2122081 single base substitution G A intron_variant CESC-US 1 2116133 2116133 single base substitution G A 3_prime_UTR_variant CESC-US 1 2116133 2116133 single base substitution G A downstream_gene_variant CESC-US 1 2116133 2116133 single base substitution G A exon_variant CESC-US 1 2116535 2116535 single base substitution G A 3_prime_UTR_variant CESC-US 1 2116535 2116535 single base substitution G A downstream_gene_variant CESC-US 1 2116535 2116535 single base substitution G A exon_variant CESC-US 1 2125597 2125598 deletion of <=200bp AG - downstream_gene_variant CESC-US 1 2125597 2125598 deletion of <=200bp AG - exon_variant CESC-US 1 2125597 2125598 deletion of <=200bp AG - intron_variant CESC-US 1 2125597 2125598 deletion of <=200bp AG - upstream_gene_variant CESC-US 1 2129633 2129633 single base substitution G C exon_variant CESC-US 1 2129633 2129633 single base substitution G C intron_variant CESC-US 1 2129633 2129633 single base substitution G C upstream_gene_variant COAD-US 1 2116414 2116414 single base substitution A G 3_prime_UTR_variant COAD-US 1 2116414 2116414 single base substitution A G downstream_gene_variant COAD-US 1 2116414 2116414 single base substitution A G exon_variant COAD-US 1 2121149 2121149 single base substitution C T 3_prime_UTR_variant COAD-US 1 2121149 2121149 single base substitution C T downstream_gene_variant COAD-US 1 2121149 2121149 single base substitution C T exon_variant COAD-US 1 2121149 2121149 single base substitution C T intron_variant COAD-US 1 2121149 2121149 single base substitution C T splice_region_variant COAD-US 1 2121149 2121149 single base substitution C T stop_retained_variant *181* 542G>A COAD-US 1 2121149 2121149 single base substitution C T stop_retained_variant *284* 851G>A COAD-US 1 2124344 2124344 single base substitution T C 5_prime_UTR_variant COAD-US 1 2124344 2124344 single base substitution T C exon_variant COAD-US 1 2124344 2124344 single base substitution T C intron_variant COAD-US 1 2124344 2124344 single base substitution T C missense_variant R180G 538A>G COAD-US 1 2125172 2125172 single base substitution G A 5_prime_UTR_variant COAD-US 1 2125172 2125172 single base substitution G A downstream_gene_variant COAD-US 1 2125172 2125172 single base substitution G A exon_variant COAD-US 1 2125172 2125172 single base substitution G A missense_variant P125S 373C>T COAD-US 1 2125172 2125172 single base substitution G A missense_variant P126S 376C>T COAD-US 1 2125172 2125172 single base substitution G A missense_variant P229S 685C>T COAD-US 1 2125172 2125172 single base substitution G A synonymous_variant I80I 240C>T COCA-CN 1 2113268 2113268 single base substitution C T downstream_gene_variant COCA-CN 1 2113674 2113674 single base substitution G T downstream_gene_variant COCA-CN 1 2113850 2113850 single base substitution G T downstream_gene_variant COCA-CN 1 2115987 2115987 single base substitution C T 3_prime_UTR_variant COCA-CN 1 2115987 2115987 single base substitution C T downstream_gene_variant COCA-CN 1 2115987 2115987 single base substitution C T exon_variant COCA-CN 1 2116938 2116938 single base substitution C G 3_prime_UTR_variant COCA-CN 1 2116938 2116938 single base substitution C G downstream_gene_variant COCA-CN 1 2116938 2116938 single base substitution C G exon_variant COCA-CN 1 2116938 2116938 single base substitution C G missense_variant A75P 223G>C COCA-CN 1 2116938 2116938 single base substitution C G missense_variant R162P 485G>C COCA-CN 1 2118640 2118640 single base substitution G T 3_prime_UTR_variant COCA-CN 1 2118640 2118640 single base substitution G T 5_prime_UTR_variant COCA-CN 1 2118640 2118640 single base substitution G T downstream_gene_variant COCA-CN 1 2118640 2118640 single base substitution G T exon_variant COCA-CN 1 2118640 2118640 single base substitution G T intron_variant COCA-CN 1 2122329 2122329 single base substitution T C downstream_gene_variant COCA-CN 1 2122329 2122329 single base substitution T C exon_variant COCA-CN 1 2122329 2122329 single base substitution T C intron_variant COCA-CN 1 2124504 2124504 single base substitution G A downstream_gene_variant COCA-CN 1 2124504 2124504 single base substitution G A exon_variant COCA-CN 1 2124504 2124504 single base substitution G A intron_variant COCA-CN 1 2129501 2129501 single base substitution A G downstream_gene_variant COCA-CN 1 2129501 2129501 single base substitution A G exon_variant COCA-CN 1 2129501 2129501 single base substitution A G missense_variant S106P 316T>C COCA-CN 1 2129501 2129501 single base substitution A G upstream_gene_variant COCA-CN 1 2131583 2131583 single base substitution T C exon_variant COCA-CN 1 2131583 2131583 single base substitution T C intron_variant COCA-CN 1 2131583 2131583 single base substitution T C upstream_gene_variant COCA-CN 1 2142518 2142518 single base substitution A C intron_variant COCA-CN 1 2142518 2142518 single base substitution A C upstream_gene_variant COCA-CN 1 2143168 2143168 single base substitution A G intron_variant COCA-CN 1 2143168 2143168 single base substitution A G upstream_gene_variant EOPC-DE 1 2145215 2145215 single base substitution A G upstream_gene_variant EOPC-DE 1 2145221 2145221 single base substitution G A upstream_gene_variant ESAD-UK 1 2113254 2113254 single base substitution T C downstream_gene_variant ESAD-UK 1 2117679 2117679 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 2117679 2117679 single base substitution C T 5_prime_UTR_variant ESAD-UK 1 2117679 2117679 single base substitution C T downstream_gene_variant ESAD-UK 1 2117679 2117679 single base substitution C T intron_variant ESAD-UK 1 2118549 2118549 single base substitution C A 3_prime_UTR_variant ESAD-UK 1 2118549 2118549 single base substitution C A 5_prime_UTR_variant ESAD-UK 1 2118549 2118549 single base substitution C A downstream_gene_variant ESAD-UK 1 2118549 2118549 single base substitution C A intron_variant ESAD-UK 1 2122293 2122293 single base substitution G A downstream_gene_variant ESAD-UK 1 2122293 2122293 single base substitution G A exon_variant ESAD-UK 1 2122293 2122293 single base substitution G A intron_variant ESAD-UK 1 2122304 2122304 single base substitution G A downstream_gene_variant ESAD-UK 1 2122304 2122304 single base substitution G A exon_variant ESAD-UK 1 2122304 2122304 single base substitution G A intron_variant ESAD-UK 1 2123746 2123746 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 1 2123746 2123746 insertion of <=200bp - A exon_variant ESAD-UK 1 2123746 2123746 insertion of <=200bp - A intron_variant ESAD-UK 1 2127506 2127506 single base substitution G T downstream_gene_variant ESAD-UK 1 2127506 2127506 single base substitution G T intron_variant ESAD-UK 1 2127506 2127506 single base substitution G T upstream_gene_variant ESAD-UK 1 2131526 2131526 single base substitution A G exon_variant ESAD-UK 1 2131526 2131526 single base substitution A G intron_variant ESAD-UK 1 2131526 2131526 single base substitution A G upstream_gene_variant ESAD-UK 1 2132227 2132227 single base substitution C T exon_variant ESAD-UK 1 2132227 2132227 single base substitution C T intron_variant ESAD-UK 1 2132227 2132227 single base substitution C T upstream_gene_variant ESAD-UK 1 2133273 2133273 single base substitution G A intron_variant ESAD-UK 1 2133273 2133273 single base substitution G A upstream_gene_variant ESAD-UK 1 2134357 2134357 single base substitution C T intron_variant ESAD-UK 1 2134357 2134357 single base substitution C T upstream_gene_variant ESAD-UK 1 2137626 2137626 single base substitution A T intron_variant ESAD-UK 1 2137626 2137626 single base substitution A T upstream_gene_variant ESAD-UK 1 2138463 2138463 single base substitution G A intron_variant ESAD-UK 1 2138463 2138463 single base substitution G A upstream_gene_variant ESAD-UK 1 2140118 2140118 single base substitution T C intron_variant ESAD-UK 1 2140118 2140118 single base substitution T C upstream_gene_variant ESAD-UK 1 2141149 2141149 single base substitution G A intron_variant ESAD-UK 1 2141149 2141149 single base substitution G A upstream_gene_variant ESAD-UK 1 2145402 2145402 single base substitution C A upstream_gene_variant ESAD-UK 1 2148305 2148305 single base substitution G A upstream_gene_variant ESCA-CN 1 2132527 2132527 single base substitution G T exon_variant ESCA-CN 1 2132527 2132527 single base substitution G T upstream_gene_variant KIRC-US 1 2121164 2121164 single base substitution T G 3_prime_UTR_variant KIRC-US 1 2121164 2121164 single base substitution T G 5_prime_UTR_variant KIRC-US 1 2121164 2121164 single base substitution T G downstream_gene_variant KIRC-US 1 2121164 2121164 single base substitution T G exon_variant KIRC-US 1 2121164 2121164 single base substitution T G intron_variant KIRC-US 1 2121164 2121164 single base substitution T G missense_variant E176A 527A>C KIRC-US 1 2121164 2121164 single base substitution T G missense_variant E279A 836A>C KIRP-US 1 2125303 2125303 single base substitution G A 5_prime_UTR_variant KIRP-US 1 2125303 2125303 single base substitution G A downstream_gene_variant KIRP-US 1 2125303 2125303 single base substitution G A exon_variant KIRP-US 1 2125303 2125303 single base substitution G A missense_variant P185L 554C>T KIRP-US 1 2125303 2125303 single base substitution G A missense_variant P37S 109C>T KIRP-US 1 2125303 2125303 single base substitution G A missense_variant P81L 242C>T KIRP-US 1 2125303 2125303 single base substitution G A missense_variant P82L 245C>T LAML-KR 1 2120357 2120357 single base substitution T C downstream_gene_variant LAML-KR 1 2120357 2120357 single base substitution T C intron_variant LAML-KR 1 2143155 2143155 single base substitution T A intron_variant LAML-KR 1 2143155 2143155 single base substitution T A upstream_gene_variant LAML-KR 1 2148708 2148708 single base substitution G C upstream_gene_variant LICA-FR 1 2124343 2124343 single base substitution C T 5_prime_UTR_variant LICA-FR 1 2124343 2124343 single base substitution C T exon_variant LICA-FR 1 2124343 2124343 single base substitution C T intron_variant LICA-FR 1 2124343 2124343 single base substitution C T missense_variant R180K 539G>A LICA-FR 1 2143088 2143088 single base substitution C A intron_variant LICA-FR 1 2143088 2143088 single base substitution C A upstream_gene_variant LINC-JP 1 2113777 2113777 single base substitution C T downstream_gene_variant LINC-JP 1 2116287 2116287 single base substitution C T 3_prime_UTR_variant LINC-JP 1 2116287 2116287 single base substitution C T downstream_gene_variant LINC-JP 1 2116287 2116287 single base substitution C T exon_variant LINC-JP 1 2116707 2116707 single base substitution G T 3_prime_UTR_variant LINC-JP 1 2116707 2116707 single base substitution G T downstream_gene_variant LINC-JP 1 2116707 2116707 single base substitution G T exon_variant LINC-JP 1 2118705 2118705 single base substitution A G downstream_gene_variant LINC-JP 1 2118705 2118705 single base substitution A G intron_variant LINC-JP 1 2145237 2145237 deletion of <=200bp G - upstream_gene_variant LIRI-JP 1 2117730 2117739 deletion of <=200bp TGCCGCGCCT - downstream_gene_variant LIRI-JP 1 2117730 2117739 deletion of <=200bp TGCCGCGCCT - intron_variant LIRI-JP 1 2118470 2118470 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 2118470 2118470 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 1 2118470 2118470 single base substitution G A downstream_gene_variant LIRI-JP 1 2118470 2118470 single base substitution G A intron_variant LIRI-JP 1 2119586 2119586 single base substitution A G downstream_gene_variant LIRI-JP 1 2119586 2119586 single base substitution A G intron_variant LIRI-JP 1 2119767 2119767 single base substitution A C downstream_gene_variant LIRI-JP 1 2119767 2119767 single base substitution A C intron_variant LIRI-JP 1 2121546 2121546 single base substitution C G downstream_gene_variant LIRI-JP 1 2121546 2121546 single base substitution C G exon_variant LIRI-JP 1 2121546 2121546 single base substitution C G intron_variant LIRI-JP 1 2122734 2122734 single base substitution A G downstream_gene_variant LIRI-JP 1 2122734 2122734 single base substitution A G exon_variant LIRI-JP 1 2122734 2122734 single base substitution A G intron_variant LIRI-JP 1 2124031 2124031 single base substitution G T 3_prime_UTR_variant LIRI-JP 1 2124031 2124031 single base substitution G T exon_variant LIRI-JP 1 2124031 2124031 single base substitution G T intron_variant LIRI-JP 1 2129474 2129474 single base substitution C T downstream_gene_variant LIRI-JP 1 2129474 2129474 single base substitution C T exon_variant LIRI-JP 1 2129474 2129474 single base substitution C T missense_variant A115T 343G>A LIRI-JP 1 2129474 2129474 single base substitution C T upstream_gene_variant LIRI-JP 1 2133716 2133716 single base substitution C T intron_variant LIRI-JP 1 2133716 2133716 single base substitution C T upstream_gene_variant LIRI-JP 1 2136135 2136135 single base substitution G A intron_variant LIRI-JP 1 2136135 2136135 single base substitution G A upstream_gene_variant LIRI-JP 1 2139857 2139869 deletion of <=200bp TCCCCTGCAGTTG - intron_variant LIRI-JP 1 2139857 2139869 deletion of <=200bp TCCCCTGCAGTTG - upstream_gene_variant LIRI-JP 1 2140540 2140540 single base substitution G A intron_variant LIRI-JP 1 2140540 2140540 single base substitution G A upstream_gene_variant LIRI-JP 1 2141102 2141102 single base substitution C T intron_variant LIRI-JP 1 2141102 2141102 single base substitution C T upstream_gene_variant LIRI-JP 1 2144145 2144145 single base substitution G A exon_variant LIRI-JP 1 2144145 2144145 single base substitution G A upstream_gene_variant LIRI-JP 1 2148932 2148932 single base substitution A C upstream_gene_variant LUSC-KR 1 2112212 2112212 single base substitution G A downstream_gene_variant LUSC-KR 1 2120357 2120357 single base substitution T C downstream_gene_variant LUSC-KR 1 2120357 2120357 single base substitution T C intron_variant LUSC-KR 1 2120423 2120423 single base substitution G T downstream_gene_variant LUSC-KR 1 2120423 2120423 single base substitution G T intron_variant LUSC-KR 1 2130197 2130197 single base substitution T A exon_variant LUSC-KR 1 2130197 2130197 single base substitution T A intron_variant LUSC-KR 1 2130197 2130197 single base substitution T A synonymous_variant P77P 231A>T LUSC-KR 1 2130197 2130197 single base substitution T A upstream_gene_variant LUSC-KR 1 2138930 2138930 single base substitution G T intron_variant LUSC-KR 1 2138930 2138930 single base substitution G T upstream_gene_variant LUSC-KR 1 2139144 2139144 single base substitution C G exon_variant LUSC-KR 1 2139144 2139144 single base substitution C G intron_variant LUSC-KR 1 2139144 2139144 single base substitution C G upstream_gene_variant LUSC-KR 1 2146870 2146870 single base substitution G A upstream_gene_variant LUSC-US 1 2116079 2116079 single base substitution C A 3_prime_UTR_variant LUSC-US 1 2116079 2116079 single base substitution C A downstream_gene_variant LUSC-US 1 2116079 2116079 single base substitution C A exon_variant MALY-DE 1 2111271 2111271 single base substitution C G downstream_gene_variant MALY-DE 1 2111838 2111838 single base substitution C T downstream_gene_variant MALY-DE 1 2114420 2114420 single base substitution T C downstream_gene_variant MALY-DE 1 2122634 2122634 single base substitution G A downstream_gene_variant MALY-DE 1 2122634 2122634 single base substitution G A exon_variant MALY-DE 1 2122634 2122634 single base substitution G A intron_variant MALY-DE 1 2123831 2123831 single base substitution T G 3_prime_UTR_variant MALY-DE 1 2123831 2123831 single base substitution T G exon_variant MALY-DE 1 2123831 2123831 single base substitution T G intron_variant MELA-AU 1 2111471 2111471 single base substitution G A downstream_gene_variant MELA-AU 1 2111679 2111679 single base substitution G A downstream_gene_variant MELA-AU 1 2111853 2111853 single base substitution G A downstream_gene_variant MELA-AU 1 2111856 2111856 single base substitution G A downstream_gene_variant MELA-AU 1 2112148 2112148 single base substitution G A downstream_gene_variant MELA-AU 1 2112989 2112990 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 2113138 2113138 single base substitution G A downstream_gene_variant MELA-AU 1 2113983 2113983 single base substitution G A downstream_gene_variant MELA-AU 1 2114145 2114145 single base substitution G A downstream_gene_variant MELA-AU 1 2115278 2115278 single base substitution C T downstream_gene_variant MELA-AU 1 2115456 2115456 single base substitution G A downstream_gene_variant MELA-AU 1 2115694 2115694 single base substitution C T downstream_gene_variant MELA-AU 1 2115990 2115990 single base substitution G A 3_prime_UTR_variant MELA-AU 1 2115990 2115990 single base substitution G A downstream_gene_variant MELA-AU 1 2115990 2115990 single base substitution G A exon_variant MELA-AU 1 2116330 2116330 deletion of <=200bp C - 3_prime_UTR_variant MELA-AU 1 2116330 2116330 deletion of <=200bp C - downstream_gene_variant MELA-AU 1 2116330 2116330 deletion of <=200bp C - exon_variant MELA-AU 1 2116332 2116332 single base substitution C T 3_prime_UTR_variant MELA-AU 1 2116332 2116332 single base substitution C T downstream_gene_variant MELA-AU 1 2116332 2116332 single base substitution C T exon_variant MELA-AU 1 2117911 2117911 single base substitution C T downstream_gene_variant MELA-AU 1 2117911 2117911 single base substitution C T intron_variant MELA-AU 1 2118546 2118546 single base substitution G A 3_prime_UTR_variant MELA-AU 1 2118546 2118546 single base substitution G A 5_prime_UTR_variant MELA-AU 1 2118546 2118546 single base substitution G A downstream_gene_variant MELA-AU 1 2118546 2118546 single base substitution G A intron_variant MELA-AU 1 2119295 2119295 single base substitution C T downstream_gene_variant MELA-AU 1 2119295 2119295 single base substitution C T intron_variant MELA-AU 1 2119419 2119420 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 2119419 2119420 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 2119653 2119654 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 2119653 2119654 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 2119654 2119654 single base substitution G A downstream_gene_variant MELA-AU 1 2119654 2119654 single base substitution G A intron_variant MELA-AU 1 2119772 2119772 single base substitution C T downstream_gene_variant MELA-AU 1 2119772 2119772 single base substitution C T intron_variant MELA-AU 1 2119953 2119953 single base substitution G A downstream_gene_variant MELA-AU 1 2119953 2119953 single base substitution G A intron_variant MELA-AU 1 2120264 2120264 single base substitution G A downstream_gene_variant MELA-AU 1 2120264 2120264 single base substitution G A intron_variant MELA-AU 1 2122424 2122424 single base substitution G T downstream_gene_variant MELA-AU 1 2122424 2122424 single base substitution G T exon_variant MELA-AU 1 2122424 2122424 single base substitution G T intron_variant MELA-AU 1 2124196 2124196 single base substitution G A 3_prime_UTR_variant MELA-AU 1 2124196 2124196 single base substitution G A exon_variant MELA-AU 1 2124196 2124196 single base substitution G A intron_variant MELA-AU 1 2124478 2124478 single base substitution C G exon_variant MELA-AU 1 2124478 2124478 single base substitution C G intron_variant MELA-AU 1 2124739 2124739 single base substitution C A downstream_gene_variant MELA-AU 1 2124739 2124739 single base substitution C A exon_variant MELA-AU 1 2124739 2124739 single base substitution C A intron_variant MELA-AU 1 2126249 2126250 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 2126249 2126250 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 2126249 2126250 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 2126918 2126918 single base substitution G A downstream_gene_variant MELA-AU 1 2126918 2126918 single base substitution G A intron_variant MELA-AU 1 2126918 2126918 single base substitution G A upstream_gene_variant MELA-AU 1 2127624 2127624 single base substitution C T downstream_gene_variant MELA-AU 1 2127624 2127624 single base substitution C T intron_variant MELA-AU 1 2127624 2127624 single base substitution C T upstream_gene_variant MELA-AU 1 2127815 2127815 single base substitution A C downstream_gene_variant MELA-AU 1 2127815 2127815 single base substitution A C intron_variant MELA-AU 1 2127815 2127815 single base substitution A C upstream_gene_variant MELA-AU 1 2128049 2128049 single base substitution C T downstream_gene_variant MELA-AU 1 2128049 2128049 single base substitution C T intron_variant MELA-AU 1 2128049 2128049 single base substitution C T upstream_gene_variant MELA-AU 1 2128153 2128153 single base substitution C T downstream_gene_variant MELA-AU 1 2128153 2128153 single base substitution C T intron_variant MELA-AU 1 2128153 2128153 single base substitution C T upstream_gene_variant MELA-AU 1 2128162 2128162 single base substitution C A downstream_gene_variant MELA-AU 1 2128162 2128162 single base substitution C A intron_variant MELA-AU 1 2128162 2128162 single base substitution C A upstream_gene_variant MELA-AU 1 2128493 2128493 single base substitution G A downstream_gene_variant MELA-AU 1 2128493 2128493 single base substitution G A intron_variant MELA-AU 1 2128493 2128493 single base substitution G A upstream_gene_variant MELA-AU 1 2128685 2128685 single base substitution G A downstream_gene_variant MELA-AU 1 2128685 2128685 single base substitution G A intron_variant MELA-AU 1 2128685 2128685 single base substitution G A upstream_gene_variant MELA-AU 1 2128780 2128780 single base substitution G A downstream_gene_variant MELA-AU 1 2128780 2128780 single base substitution G A intron_variant MELA-AU 1 2128780 2128780 single base substitution G A upstream_gene_variant MELA-AU 1 2129028 2129028 single base substitution G A downstream_gene_variant MELA-AU 1 2129028 2129028 single base substitution G A intron_variant MELA-AU 1 2129028 2129028 single base substitution G A upstream_gene_variant MELA-AU 1 2129139 2129139 single base substitution G A downstream_gene_variant MELA-AU 1 2129139 2129139 single base substitution G A intron_variant MELA-AU 1 2129139 2129139 single base substitution G A upstream_gene_variant MELA-AU 1 2129239 2129239 single base substitution G A downstream_gene_variant MELA-AU 1 2129239 2129239 single base substitution G A intron_variant MELA-AU 1 2129239 2129239 single base substitution G A upstream_gene_variant MELA-AU 1 2129250 2129250 single base substitution G T downstream_gene_variant MELA-AU 1 2129250 2129250 single base substitution G T intron_variant MELA-AU 1 2129250 2129250 single base substitution G T upstream_gene_variant MELA-AU 1 2129785 2129785 single base substitution C T exon_variant MELA-AU 1 2129785 2129785 single base substitution C T intron_variant MELA-AU 1 2129785 2129785 single base substitution C T upstream_gene_variant MELA-AU 1 2130842 2130843 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 2130842 2130843 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 2130842 2130843 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 2130952 2130952 single base substitution C T exon_variant MELA-AU 1 2130952 2130952 single base substitution C T intron_variant MELA-AU 1 2130952 2130952 single base substitution C T upstream_gene_variant MELA-AU 1 2132327 2132328 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 2132327 2132328 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 2132327 2132328 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 2133599 2133599 single base substitution C T intron_variant MELA-AU 1 2133599 2133599 single base substitution C T upstream_gene_variant MELA-AU 1 2133701 2133702 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 2133701 2133702 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 2134500 2134500 single base substitution C T intron_variant MELA-AU 1 2134500 2134500 single base substitution C T upstream_gene_variant MELA-AU 1 2134554 2134554 single base substitution C T intron_variant MELA-AU 1 2134554 2134554 single base substitution C T upstream_gene_variant MELA-AU 1 2134754 2134754 single base substitution C T intron_variant MELA-AU 1 2134754 2134754 single base substitution C T upstream_gene_variant MELA-AU 1 2134972 2134972 single base substitution G A exon_variant MELA-AU 1 2134972 2134972 single base substitution G A intron_variant MELA-AU 1 2134972 2134972 single base substitution G A upstream_gene_variant MELA-AU 1 2137286 2137286 single base substitution G A intron_variant MELA-AU 1 2137286 2137286 single base substitution G A upstream_gene_variant MELA-AU 1 2137535 2137535 single base substitution G A intron_variant MELA-AU 1 2137535 2137535 single base substitution G A upstream_gene_variant MELA-AU 1 2137587 2137587 single base substitution G A intron_variant MELA-AU 1 2137587 2137587 single base substitution G A upstream_gene_variant MELA-AU 1 2137835 2137835 single base substitution G A exon_variant MELA-AU 1 2137835 2137835 single base substitution G A intron_variant MELA-AU 1 2137835 2137835 single base substitution G A upstream_gene_variant MELA-AU 1 2137845 2137845 single base substitution C T exon_variant MELA-AU 1 2137845 2137845 single base substitution C T intron_variant MELA-AU 1 2137845 2137845 single base substitution C T upstream_gene_variant MELA-AU 1 2138300 2138300 single base substitution C T intron_variant MELA-AU 1 2138300 2138300 single base substitution C T upstream_gene_variant MELA-AU 1 2138675 2138676 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 1 2138675 2138676 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 1 2138715 2138715 single base substitution C T intron_variant MELA-AU 1 2138715 2138715 single base substitution C T upstream_gene_variant MELA-AU 1 2138783 2138783 single base substitution G A intron_variant MELA-AU 1 2138783 2138783 single base substitution G A upstream_gene_variant MELA-AU 1 2139544 2139544 single base substitution C T intron_variant MELA-AU 1 2139544 2139544 single base substitution C T upstream_gene_variant MELA-AU 1 2139659 2139659 single base substitution G A intron_variant MELA-AU 1 2139659 2139659 single base substitution G A upstream_gene_variant MELA-AU 1 2140876 2140876 single base substitution G A intron_variant MELA-AU 1 2140876 2140876 single base substitution G A upstream_gene_variant MELA-AU 1 2141221 2141221 single base substitution C T intron_variant MELA-AU 1 2141221 2141221 single base substitution C T upstream_gene_variant MELA-AU 1 2141226 2141226 single base substitution C T intron_variant MELA-AU 1 2141226 2141226 single base substitution C T upstream_gene_variant MELA-AU 1 2141698 2141698 single base substitution C T intron_variant MELA-AU 1 2141698 2141698 single base substitution C T upstream_gene_variant MELA-AU 1 2141920 2141920 single base substitution G A intron_variant MELA-AU 1 2141920 2141920 single base substitution G A upstream_gene_variant MELA-AU 1 2141932 2141932 single base substitution G A intron_variant MELA-AU 1 2141932 2141932 single base substitution G A upstream_gene_variant MELA-AU 1 2142024 2142024 single base substitution C T intron_variant MELA-AU 1 2142024 2142024 single base substitution C T upstream_gene_variant MELA-AU 1 2142069 2142069 single base substitution G A intron_variant MELA-AU 1 2142069 2142069 single base substitution G A upstream_gene_variant MELA-AU 1 2142203 2142203 single base substitution C T intron_variant MELA-AU 1 2142203 2142203 single base substitution C T upstream_gene_variant MELA-AU 1 2142552 2142552 single base substitution C T intron_variant MELA-AU 1 2142552 2142552 single base substitution C T upstream_gene_variant MELA-AU 1 2143426 2143426 single base substitution C T intron_variant MELA-AU 1 2143426 2143426 single base substitution C T upstream_gene_variant MELA-AU 1 2143783 2143783 single base substitution G A intron_variant MELA-AU 1 2143783 2143783 single base substitution G A upstream_gene_variant MELA-AU 1 2144757 2144757 single base substitution G A upstream_gene_variant MELA-AU 1 2145026 2145026 single base substitution C G upstream_gene_variant MELA-AU 1 2145031 2145031 single base substitution A T upstream_gene_variant MELA-AU 1 2145142 2145142 single base substitution C T upstream_gene_variant MELA-AU 1 2146144 2146144 single base substitution G A upstream_gene_variant MELA-AU 1 2146232 2146232 single base substitution C T upstream_gene_variant MELA-AU 1 2146419 2146420 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 2146784 2146784 single base substitution C T upstream_gene_variant MELA-AU 1 2146954 2146954 single base substitution G A upstream_gene_variant MELA-AU 1 2147334 2147334 single base substitution C T upstream_gene_variant MELA-AU 1 2147601 2147601 single base substitution G A upstream_gene_variant MELA-AU 1 2147748 2147748 single base substitution C T upstream_gene_variant MELA-AU 1 2147750 2147750 single base substitution C T upstream_gene_variant MELA-AU 1 2147833 2147834 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 2147919 2147919 single base substitution G A upstream_gene_variant MELA-AU 1 2148015 2148016 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 2148533 2148533 single base substitution G A upstream_gene_variant MELA-AU 1 2148674 2148674 single base substitution C T upstream_gene_variant MELA-AU 1 2148891 2148891 single base substitution T C upstream_gene_variant ORCA-IN 1 2123078 2123078 single base substitution A G downstream_gene_variant ORCA-IN 1 2123078 2123078 single base substitution A G exon_variant ORCA-IN 1 2123078 2123078 single base substitution A G intron_variant ORCA-IN 1 2140590 2140590 single base substitution G A intron_variant ORCA-IN 1 2140590 2140590 single base substitution G A upstream_gene_variant OV-AU 1 2110996 2110996 single base substitution C G downstream_gene_variant OV-AU 1 2114601 2114601 single base substitution T G downstream_gene_variant OV-AU 1 2116225 2116225 single base substitution G A 3_prime_UTR_variant OV-AU 1 2116225 2116225 single base substitution G A downstream_gene_variant OV-AU 1 2116225 2116225 single base substitution G A exon_variant OV-AU 1 2117926 2117926 single base substitution T G downstream_gene_variant OV-AU 1 2117926 2117926 single base substitution T G intron_variant OV-AU 1 2121528 2121528 single base substitution A T downstream_gene_variant OV-AU 1 2121528 2121528 single base substitution A T exon_variant OV-AU 1 2121528 2121528 single base substitution A T intron_variant OV-AU 1 2122502 2122502 single base substitution C T downstream_gene_variant OV-AU 1 2122502 2122502 single base substitution C T exon_variant OV-AU 1 2122502 2122502 single base substitution C T intron_variant OV-AU 1 2126382 2126382 single base substitution G A downstream_gene_variant OV-AU 1 2126382 2126382 single base substitution G A intron_variant OV-AU 1 2126382 2126382 single base substitution G A upstream_gene_variant OV-AU 1 2131384 2131384 single base substitution G A exon_variant OV-AU 1 2131384 2131384 single base substitution G A intron_variant OV-AU 1 2131384 2131384 single base substitution G A upstream_gene_variant OV-AU 1 2134876 2134876 single base substitution G C intron_variant OV-AU 1 2134876 2134876 single base substitution G C splice_region_variant OV-AU 1 2134876 2134876 single base substitution G C upstream_gene_variant OV-AU 1 2139319 2139319 single base substitution G T intron_variant OV-AU 1 2139319 2139319 single base substitution G T upstream_gene_variant OV-AU 1 2139472 2139472 single base substitution G C intron_variant OV-AU 1 2139472 2139472 single base substitution G C upstream_gene_variant OV-AU 1 2139875 2139875 single base substitution G C intron_variant OV-AU 1 2139875 2139875 single base substitution G C upstream_gene_variant OV-AU 1 2142215 2142215 single base substitution A T intron_variant OV-AU 1 2142215 2142215 single base substitution A T upstream_gene_variant PACA-AU 1 2117679 2117679 single base substitution C T 3_prime_UTR_variant PACA-AU 1 2117679 2117679 single base substitution C T 5_prime_UTR_variant PACA-AU 1 2117679 2117679 single base substitution C T downstream_gene_variant PACA-AU 1 2117679 2117679 single base substitution C T intron_variant PACA-AU 1 2118188 2118188 single base substitution G A downstream_gene_variant PACA-AU 1 2118188 2118188 single base substitution G A intron_variant PACA-AU 1 2119115 2119115 single base substitution C T downstream_gene_variant PACA-AU 1 2119115 2119115 single base substitution C T intron_variant PACA-AU 1 2121213 2121213 single base substitution G C 3_prime_UTR_variant PACA-AU 1 2121213 2121213 single base substitution G C 5_prime_UTR_variant PACA-AU 1 2121213 2121213 single base substitution G C downstream_gene_variant PACA-AU 1 2121213 2121213 single base substitution G C exon_variant PACA-AU 1 2121213 2121213 single base substitution G C intron_variant PACA-AU 1 2121213 2121213 single base substitution G C missense_variant Q160E 478C>G PACA-AU 1 2121213 2121213 single base substitution G C missense_variant Q263E 787C>G PACA-AU 1 2124329 2124329 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 1 2124329 2124329 single base substitution G A exon_variant PACA-AU 1 2124329 2124329 single base substitution G A intron_variant PACA-AU 1 2124329 2124329 single base substitution G A missense_variant R185W 553C>T PACA-AU 1 2130376 2130376 single base substitution G A exon_variant PACA-AU 1 2130376 2130376 single base substitution G A intron_variant PACA-AU 1 2130376 2130376 single base substitution G A missense_variant P18S 52C>T PACA-AU 1 2130376 2130376 single base substitution G A upstream_gene_variant PACA-AU 1 2133767 2133767 single base substitution C A intron_variant PACA-AU 1 2133767 2133767 single base substitution C A upstream_gene_variant PACA-AU 1 2142568 2142568 single base substitution A C intron_variant PACA-AU 1 2142568 2142568 single base substitution A C upstream_gene_variant PACA-AU 1 2144399 2144399 single base substitution C A upstream_gene_variant PACA-CA 1 2118297 2118297 single base substitution A T 3_prime_UTR_variant PACA-CA 1 2118297 2118297 single base substitution A T 5_prime_UTR_variant PACA-CA 1 2118297 2118297 single base substitution A T downstream_gene_variant PACA-CA 1 2118297 2118297 single base substitution A T intron_variant PACA-CA 1 2126324 2126324 single base substitution G A downstream_gene_variant PACA-CA 1 2126324 2126324 single base substitution G A intron_variant PACA-CA 1 2126324 2126324 single base substitution G A upstream_gene_variant PACA-CA 1 2130622 2130622 single base substitution G C exon_variant PACA-CA 1 2130622 2130622 single base substitution G C intron_variant PACA-CA 1 2130622 2130622 single base substitution G C upstream_gene_variant PACA-CA 1 2141392 2141392 single base substitution G A intron_variant PACA-CA 1 2141392 2141392 single base substitution G A upstream_gene_variant PACA-CA 1 2143034 2143034 single base substitution C A intron_variant PACA-CA 1 2143034 2143034 single base substitution C A upstream_gene_variant PACA-CA 1 2143759 2143759 single base substitution C A intron_variant PACA-CA 1 2143759 2143759 single base substitution C A upstream_gene_variant PACA-CA 1 2144031 2144031 single base substitution C T exon_variant PACA-CA 1 2144031 2144031 single base substitution C T upstream_gene_variant PACA-CA 1 2144908 2144908 single base substitution G T upstream_gene_variant PACA-CA 1 2146222 2146222 single base substitution G A upstream_gene_variant PACA-CA 1 2147384 2147384 single base substitution G A upstream_gene_variant PACA-CA 1 2148981 2148981 single base substitution G T upstream_gene_variant PBCA-DE 1 2126384 2126384 single base substitution C T downstream_gene_variant PBCA-DE 1 2126384 2126384 single base substitution C T intron_variant PBCA-DE 1 2126384 2126384 single base substitution C T upstream_gene_variant PBCA-DE 1 2136975 2136975 single base substitution G A intron_variant PBCA-DE 1 2136975 2136975 single base substitution G A upstream_gene_variant PBCA-DE 1 2137109 2137109 single base substitution C T intron_variant PBCA-DE 1 2137109 2137109 single base substitution C T upstream_gene_variant PRAD-CA 1 2121118 2121118 single base substitution C T 3_prime_UTR_variant PRAD-CA 1 2121118 2121118 single base substitution C T downstream_gene_variant PRAD-CA 1 2121118 2121118 single base substitution C T exon_variant PRAD-CA 1 2121118 2121118 single base substitution C T intron_variant PRAD-CA 1 2126655 2126655 single base substitution T C downstream_gene_variant PRAD-CA 1 2126655 2126655 single base substitution T C intron_variant PRAD-CA 1 2126655 2126655 single base substitution T C upstream_gene_variant PRAD-CA 1 2145251 2145251 single base substitution C G upstream_gene_variant PRAD-CA 1 2145259 2145259 single base substitution G A upstream_gene_variant PRAD-UK 1 2112804 2112804 single base substitution G A downstream_gene_variant PRAD-UK 1 2124223 2124223 single base substitution A C 3_prime_UTR_variant PRAD-UK 1 2124223 2124223 single base substitution A C exon_variant PRAD-UK 1 2124223 2124223 single base substitution A C intron_variant RECA-EU 1 2127491 2127491 single base substitution G A downstream_gene_variant RECA-EU 1 2127491 2127491 single base substitution G A intron_variant RECA-EU 1 2127491 2127491 single base substitution G A upstream_gene_variant RECA-EU 1 2127953 2127953 single base substitution G A downstream_gene_variant RECA-EU 1 2127953 2127953 single base substitution G A intron_variant RECA-EU 1 2127953 2127953 single base substitution G A upstream_gene_variant RECA-EU 1 2134731 2134731 single base substitution G A intron_variant RECA-EU 1 2134731 2134731 single base substitution G A upstream_gene_variant RECA-EU 1 2146266 2146266 single base substitution T C upstream_gene_variant SKCA-BR 1 2113659 2113659 single base substitution T G downstream_gene_variant SKCA-BR 1 2113672 2113672 single base substitution T C downstream_gene_variant SKCA-BR 1 2114601 2114601 single base substitution T G downstream_gene_variant SKCA-BR 1 2121443 2121443 single base substitution T C downstream_gene_variant SKCA-BR 1 2121443 2121443 single base substitution T C exon_variant SKCA-BR 1 2121443 2121443 single base substitution T C intron_variant SKCA-BR 1 2125122 2125122 single base substitution C T 5_prime_UTR_variant SKCA-BR 1 2125122 2125122 single base substitution C T downstream_gene_variant SKCA-BR 1 2125122 2125122 single base substitution C T exon_variant SKCA-BR 1 2125122 2125122 single base substitution C T missense_variant R97Q 290G>A SKCA-BR 1 2125122 2125122 single base substitution C T synonymous_variant A141A 423G>A SKCA-BR 1 2125122 2125122 single base substitution C T synonymous_variant A142A 426G>A SKCA-BR 1 2125122 2125122 single base substitution C T synonymous_variant A245A 735G>A SKCA-BR 1 2126257 2126257 single base substitution G C downstream_gene_variant SKCA-BR 1 2126257 2126257 single base substitution G C intron_variant SKCA-BR 1 2126257 2126257 single base substitution G C upstream_gene_variant SKCA-BR 1 2128830 2128830 single base substitution G A downstream_gene_variant SKCA-BR 1 2128830 2128830 single base substitution G A intron_variant SKCA-BR 1 2128830 2128830 single base substitution G A upstream_gene_variant SKCA-BR 1 2129324 2129324 single base substitution A C downstream_gene_variant SKCA-BR 1 2129324 2129324 single base substitution A C intron_variant SKCA-BR 1 2129324 2129324 single base substitution A C upstream_gene_variant SKCA-BR 1 2129332 2129332 single base substitution T C downstream_gene_variant SKCA-BR 1 2129332 2129332 single base substitution T C intron_variant SKCA-BR 1 2129332 2129332 single base substitution T C upstream_gene_variant SKCA-BR 1 2131834 2131834 insertion of <=200bp - CA exon_variant SKCA-BR 1 2131834 2131834 insertion of <=200bp - CA intron_variant SKCA-BR 1 2131834 2131834 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 1 2138324 2138324 single base substitution G A intron_variant SKCA-BR 1 2138324 2138324 single base substitution G A upstream_gene_variant SKCA-BR 1 2138473 2138473 single base substitution C T intron_variant SKCA-BR 1 2138473 2138473 single base substitution C T upstream_gene_variant SKCA-BR 1 2140576 2140576 single base substitution A C intron_variant SKCA-BR 1 2140576 2140576 single base substitution A C upstream_gene_variant SKCA-BR 1 2143428 2143428 single base substitution A C intron_variant SKCA-BR 1 2143428 2143428 single base substitution A C upstream_gene_variant SKCA-BR 1 2144251 2144251 single base substitution T C upstream_gene_variant STAD-US 1 2125140 2125140 single base substitution C T 5_prime_UTR_variant STAD-US 1 2125140 2125140 single base substitution C T downstream_gene_variant STAD-US 1 2125140 2125140 single base substitution C T exon_variant STAD-US 1 2125140 2125140 single base substitution C T missense_variant R91H 272G>A STAD-US 1 2125140 2125140 single base substitution C T synonymous_variant P135P 405G>A STAD-US 1 2125140 2125140 single base substitution C T synonymous_variant P136P 408G>A STAD-US 1 2125140 2125140 single base substitution C T synonymous_variant P239P 717G>A STAD-US 1 2125206 2125206 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 1 2125206 2125206 single base substitution G A downstream_gene_variant STAD-US 1 2125206 2125206 single base substitution G A exon_variant STAD-US 1 2125206 2125206 single base substitution G A missense_variant P69L 206C>T STAD-US 1 2125206 2125206 single base substitution G A synonymous_variant P113P 339C>T STAD-US 1 2125206 2125206 single base substitution G A synonymous_variant P114P 342C>T STAD-US 1 2125206 2125206 single base substitution G A synonymous_variant P217P 651C>T STAD-US 1 2125333 2125333 deletion of <=200bp G - 5_prime_UTR_variant STAD-US 1 2125333 2125333 deletion of <=200bp G - downstream_gene_variant STAD-US 1 2125333 2125333 deletion of <=200bp G - exon_variant STAD-US 1 2125333 2125333 deletion of <=200bp G - frameshift_variant P175 STAD-US 1 2125333 2125333 deletion of <=200bp G - frameshift_variant P71 STAD-US 1 2125333 2125333 deletion of <=200bp G - frameshift_variant P72 STAD-US 1 2125333 2125333 deletion of <=200bp G - frameshift_variant R27 THCA-SA 1 2125172 2125172 single base substitution G A 5_prime_UTR_variant THCA-SA 1 2125172 2125172 single base substitution G A downstream_gene_variant THCA-SA 1 2125172 2125172 single base substitution G A exon_variant THCA-SA 1 2125172 2125172 single base substitution G A missense_variant P125S 373C>T THCA-SA 1 2125172 2125172 single base substitution G A missense_variant P126S 376C>T THCA-SA 1 2125172 2125172 single base substitution G A missense_variant P229S 685C>T THCA-SA 1 2125172 2125172 single base substitution G A synonymous_variant I80I 240C>T THCA-SA 1 2126139 2126139 single base substitution C G 5_prime_UTR_variant THCA-SA 1 2126139 2126139 single base substitution C G downstream_gene_variant THCA-SA 1 2126139 2126139 single base substitution C G exon_variant THCA-SA 1 2126139 2126139 single base substitution C G intron_variant THCA-SA 1 2126139 2126139 single base substitution C G missense_variant R16P 47G>C THCA-SA 1 2126139 2126139 single base substitution C G missense_variant R17P 50G>C THCA-SA 1 2126139 2126139 single base substitution C G upstream_gene_variant UCEC-US 1 2116748 2116748 single base substitution G A 3_prime_UTR_variant UCEC-US 1 2116748 2116748 single base substitution G A downstream_gene_variant UCEC-US 1 2116748 2116748 single base substitution G A exon_variant UCEC-US 1 2116748 2116748 single base substitution G A missense_variant P138L 413C>T UCEC-US 1 2116778 2116778 single base substitution C T 3_prime_UTR_variant UCEC-US 1 2116778 2116778 single base substitution C T downstream_gene_variant UCEC-US 1 2116778 2116778 single base substitution C T exon_variant UCEC-US 1 2116778 2116778 single base substitution C T missense_variant R128Q 383G>A UCEC-US 1 2125559 2125559 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 1 2125559 2125559 single base substitution G A downstream_gene_variant UCEC-US 1 2125559 2125559 single base substitution G A exon_variant UCEC-US 1 2125559 2125559 single base substitution G A intron_variant UCEC-US 1 2125559 2125559 single base substitution G A missense_variant R129C 385C>T UCEC-US 1 2125559 2125559 single base substitution G A missense_variant R25C 73C>T UCEC-US 1 2125559 2125559 single base substitution G A missense_variant R26C 76C>T UCEC-US 1 2125559 2125559 single base substitution G A upstream_gene_variant UCEC-US 1 2129535 2129535 single base substitution C A exon_variant UCEC-US 1 2129535 2129535 single base substitution C A synonymous_variant A94A 282G>T UCEC-US 1 2129535 2129535 single base substitution C A upstream_gene_variant UCEC-US 1 2132527 2132527 single base substitution G A exon_variant UCEC-US 1 2132527 2132527 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SNU-C4 COSM4652162 c.432G>A p.L144L Substitution - coding silent 1:2193677-2193677 - 8047838 COSM3385728 c.478C>G p.Q160E Substitution - Missense 1:2189774-2189774 - HCT15 COSM1930137 c.282G>A p.L94L Substitution - coding silent 1:2193827-2193827 - TCGA-G4-6298-01 COSM3750859 c.376C>T p.P126S Substitution - Missense 1:2193733-2193733 - MD-143 COSM301822 c.126G>A p.E42E Substitution - coding silent 1:2194070-2194070 - SC_9068 COSM5561952 c.407C>T p.P136L Substitution - Missense 1:2193702-2193702 - PDA_074 COSM3750859 c.376C>T p.P126S Substitution - Missense 1:2193733-2193733 - LC_C23 COSM1185271 c.290C>T p.P97L Substitution - Missense 1:2193819-2193819 - TCGA-GV-A3JZ-01 COSM1295842 c.327G>A p.G109G Substitution - coding silent 1:2193782-2193782 - HCC74T COSM1601626 c.53C>G p.P18R Substitution - Missense 1:2194697-2194697 - 1604875 COSM140910 c.467C>T p.P156L Substitution - Missense 1:2193642-2193642 - ATL038 COSM5705180 c.361C>T p.R121C Substitution - Missense 1:2193748-2193748 - TCGA-BH-A18N-01 COSM425250 c.140T>C p.V47A Substitution - Missense 1:2194056-2194056 - TCGA-DK-A1A7-01 COSM414643 c.131T>A p.L44Q Substitution - Missense 1:2194065-2194065 - PTC-53C COSM4143309 c.50G>C p.R17P Substitution - Missense 1:2194700-2194700 - H650 COSM1194649 c.526G>C p.E176Q Substitution - Missense 1:2189726-2189726 - PTC-77C COSM4143309 c.50G>C p.R17P Substitution - Missense 1:2194700-2194700 - SJRHB003 COSM3738427 c.423C>T p.A141A Substitution - coding silent 1:2193686-2193686 - TCGA-CJ-4895-01 COSM3360628 c.527A>C p.E176A Substitution - Missense 1:2189725-2189725 - P08-590 COSM243342 c.452A>T p.Q151L Substitution - Missense 1:2193657-2193657 - YUKADI COSM1686892 c.182C>T p.P61L Substitution - Missense 1:2194014-2194014 - ESCC_11 COSM5624094 c.195_198+1delACAGG p.? Unknown 1:2193997-2194001 - TCGA-CG-5721-01 COSM4027929 c.408G>A p.P136P Substitution - coding silent 1:2193701-2193701 - TCGA-HU-A4GT-01 COSM4027938 c.342C>T p.P114P Substitution - coding silent 1:2193767-2193767 - PTC-54C COSM3750859 c.376C>T p.P126S Substitution - Missense 1:2193733-2193733 - TCGA-BQ-5881-01 COSM3984704 c.245C>T p.P82L Substitution - Missense 1:2193864-2193864 - 578 COSM3360628 c.527A>C p.E176A Substitution - Missense 1:2189725-2189725 - TCGA-AA-3663-01 COSM3750859 c.376C>T p.P126S Substitution - Missense 1:2193733-2193733 - TCGA-DK-A1AC-01 COSM1295844 c.153G>A p.L51L Substitution - coding silent 1:2194043-2194043 - TCGA-FD-A3B6-01 COSM1295839 c.538T>C p.W180R Substitution - Missense 1:2189714-2189714 - PTC-50C COSM4143309 c.50G>C p.R17P Substitution - Missense 1:2194700-2194700 - PTC_386 COSM4143309 c.50G>C p.R17P Substitution - Missense 1:2194700-2194700 - DLD1 COSM4622481 c.306G>A p.R102R Substitution - coding silent 1:2193803-2193803 - PTC_446 COSM4143309 c.50G>C p.R17P Substitution - Missense 1:2194700-2194700 - TCGA-D1-A15X-01 COSM903565 c.76C>T p.R26C Substitution - Missense 1:2194120-2194120 - TCGA-AA-3662-01 COSM3750859 c.376C>T p.P126S Substitution - Missense 1:2193733-2193733 - YUPROST COSM1686890 c.299C>T p.S100F Substitution - Missense 1:2193810-2193810 - TCGA-CJ-4888-01 COSM3360628 c.527A>C p.E176A Substitution - Missense 1:2189725-2189725 - SNU-C2B COSM1930118 c.437G>A p.S146N Substitution - Missense 1:2193672-2193672 - TCGA-AZ-4615-01 COSM3750859 c.376C>T p.P126S Substitution - Missense 1:2193733-2193733 - HCT8 COSM1930137 c.282G>A p.L94L Substitution - coding silent 1:2193827-2193827 - DLD1 COSM1930137 c.282G>A p.L94L Substitution - coding silent 1:2193827-2193827 - TCGA-CM-6677-01 COSM1338689 c.542G>A p.*181* Substitution - coding silent 1:2189710-2189710 - SJRHB003_D COSM3738427 c.423C>T p.A141A Substitution - coding silent 1:2193686-2193686 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.107101 1p36.33

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.540+78T>C 1 2121073 ESCA A G Missense p.V47A c.140T>C 1 2125495 BRCA A G Missense p.W180R c.538T>C 1 2121153 BLCA A T Missense p.L44Q c.131T>A 1 2125504 BLCA C T Missense p.G106R c.316G>A 1 2125232 GBM C T Synonymous p.G109G c.327G>A 1 2125221 BLCA G A Missense p.P22S c.64C>T 1 2125571 CM GT AA Missense p.H105L c.314_315delinsTT 1 2125233 CM G T IntronicSNV . c.470+1047C>A 1 2124031 HC T G Missense p.E176A c.527A>C 1 2121164 RCCC