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 2 218920 218920 + Missense_Mutation SNP C C G TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr2:218920C>G c.920G>C c.(919-921)gGa>gCa p.G307A BLCA 2 218992 218992 + Missense_Mutation SNP T T A TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr2:218992T>A c.848A>T c.(847-849)aAt>aTt p.N283I BLCA 2 218994 218994 + Silent SNP C C T TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr2:218994C>T c.846G>A c.(844-846)ttG>ttA p.L282L BLCA 2 233104 233104 + Missense_Mutation SNP C C G TCGA-XF-AAN3-01A-11D-A42E-08 TCGA-XF-AAN3-10A-01D-A42H-08 g.chr2:233104C>G c.530G>C c.(529-531)aGa>aCa p.R177T BLCA 2 234213 234213 + Silent SNP G G C TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 g.chr2:234213G>C c.351C>G c.(349-351)ggC>ggG p.G117G BRCA 2 230038 230038 + Missense_Mutation SNP C C G TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 g.chr2:230038C>G c.709G>C c.(709-711)Gaa>Caa p.E237Q BRCA 2 247593 247593 + Missense_Mutation SNP G G T TCGA-B6-A400-01A-11D-A23C-09 TCGA-B6-A400-10A-01D-A23C-09 g.chr2:247593G>T c.236C>A c.(235-237)gCa>gAa p.A79E COAD 2 218858 218858 + Nonsense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:218858G>A c.982C>T c.(982-984)Cga>Tga p.R328* COAD 2 231083 231083 + Silent SNP A A G TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr2:231083A>G c.642T>C c.(640-642)taT>taC p.Y214Y COAD 2 231083 231083 + Silent SNP A A G TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr2:231083A>G c.642T>C c.(640-642)taT>taC p.Y214Y COAD 2 231085 231085 + Missense_Mutation SNP A A G TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chr2:231085A>G c.640T>C c.(640-642)Tat>Cat p.Y214H COAD 2 234162 234162 + Silent SNP T T C TCGA-AA-A03J-01A-21W-A096-10 TCGA-AA-A03J-11A-11W-A096-10 g.chr2:234162T>C c.402A>G c.(400-402)ggA>ggG p.G134G COAD 2 234178 234178 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr2:234178G>A c.386C>T c.(385-387)gCg>gTg p.A129V COAD 2 249813 249813 + Silent SNP T T C TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:249813T>C c.144A>G c.(142-144)gcA>gcG p.A48A COAD 2 249832 249832 + Missense_Mutation SNP G G A TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr2:249832G>A c.125C>T c.(124-126)gCg>gTg p.A42V COAD 2 253085 253085 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:253085G>A c.32C>T c.(31-33)tCa>tTa p.S11L COADREAD 2 218858 218858 + Nonsense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:218858G>A c.982C>T c.(982-984)Cga>Tga p.R328* COADREAD 2 231083 231083 + Silent SNP A A G TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr2:231083A>G c.642T>C c.(640-642)taT>taC p.Y214Y COADREAD 2 231083 231083 + Silent SNP A A G TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr2:231083A>G c.642T>C c.(640-642)taT>taC p.Y214Y COADREAD 2 231084 231084 + Missense_Mutation SNP T T C TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr2:231084T>C c.641A>G c.(640-642)tAt>tGt p.Y214C COADREAD 2 231085 231085 + Missense_Mutation SNP A A G TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chr2:231085A>G c.640T>C c.(640-642)Tat>Cat p.Y214H COADREAD 2 234162 234162 + Silent SNP T T C TCGA-AA-A03J-01A-21W-A096-10 TCGA-AA-A03J-11A-11W-A096-10 g.chr2:234162T>C c.402A>G c.(400-402)ggA>ggG p.G134G COADREAD 2 234178 234178 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr2:234178G>A c.386C>T c.(385-387)gCg>gTg p.A129V COADREAD 2 249813 249813 + Silent SNP T T C TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:249813T>C c.144A>G c.(142-144)gcA>gcG p.A48A COADREAD 2 249832 249832 + Missense_Mutation SNP G G A TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr2:249832G>A c.125C>T c.(124-126)gCg>gTg p.A42V COADREAD 2 253085 253085 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:253085G>A c.32C>T c.(31-33)tCa>tTa p.S11L DLBC 2 218939 218939 + Missense_Mutation SNP C C T TCGA-FF-8061-01A-11D-2210-10 TCGA-FF-8061-10A-01D-2210-10 g.chr2:218939C>T c.901G>A c.(901-903)Gat>Aat p.D301N KIPAN 2 253096 253096 + Silent SNP G G A TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr2:253096G>A c.21C>T c.(19-21)tcC>tcT p.S7S KIRP 2 253096 253096 + Silent SNP G G A TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr2:253096G>A c.21C>T c.(19-21)tcC>tcT p.S7S LIHC 2 218860 218860 + Missense_Mutation SNP A A C TCGA-BC-A10U-01A-11D-A12Z-10 TCGA-BC-A10U-11A-11D-A12Z-10 g.chr2:218860A>C c.980T>G c.(979-981)cTt>cGt p.L327R LIHC 2 231165 231165 + Missense_Mutation SNP T T C TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chr2:231165T>C c.560A>G c.(559-561)tAt>tGt p.Y187C LIHC 2 234273 234273 + Splice_Site SNP C C T TCGA-UB-A7ME-01A-11D-A33K-10 TCGA-UB-A7ME-10A-01D-A33K-10 g.chr2:234273C>T c.e7-1 LUAD 2 233127 233127 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr2:233127C>T c.507G>A c.(505-507)ttG>ttA p.L169L LUAD 2 233146 233146 + Missense_Mutation SNP G G C TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 g.chr2:233146G>C c.488C>G c.(487-489)tCt>tGt p.S163C LUSC 2 229996 229996 + Missense_Mutation SNP C C A TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 g.chr2:229996C>A c.751G>T c.(751-753)Gca>Tca p.A251S LUSC 2 233210 233210 + Missense_Mutation SNP C C A TCGA-34-5234-01A-01D-1632-08 TCGA-34-5234-10A-01D-1632-08 g.chr2:233210C>A c.424G>T c.(424-426)Gcc>Tcc p.A142S OV 2 231084 231084 + Missense_Mutation SNP T T C TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 g.chr2:231084T>C c.641A>G c.(640-642)tAt>tGt p.Y214C READ 2 231084 231084 + Missense_Mutation SNP T T C TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr2:231084T>C c.641A>G c.(640-642)tAt>tGt p.Y214C SKCM 2 218837 218837 + Missense_Mutation SNP G G A TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chr2:218837G>A c.1003C>T c.(1003-1005)Cca>Tca p.P335S SKCM 2 229993 229993 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr2:229993G>A c.754C>T c.(754-756)Cca>Tca p.P252S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 2 233123 233123 single base substitution C G downstream_gene_variant BLCA-CN 2 233123 233123 single base substitution C G exon_variant BLCA-CN 2 233123 233123 single base substitution C G intron_variant BLCA-CN 2 233123 233123 single base substitution C G missense_variant E171Q 511G>C BLCA-CN 2 233123 233123 single base substitution C G missense_variant E75Q 223G>C BLCA-CN 2 233123 233123 single base substitution C G upstream_gene_variant BLCA-US 2 234213 234213 single base substitution G C exon_variant BLCA-US 2 234213 234213 single base substitution G C synonymous_variant G116G 348C>G BLCA-US 2 234213 234213 single base substitution G C synonymous_variant G117G 351C>G BLCA-US 2 234213 234213 single base substitution G C synonymous_variant G21G 63C>G BLCA-US 2 234213 234213 single base substitution G C synonymous_variant G6G 18C>G BLCA-US 2 234213 234213 single base substitution G C synonymous_variant G92G 276C>G BLCA-US 2 234213 234213 single base substitution G C upstream_gene_variant BRCA-EU 2 213176 213176 single base substitution C T downstream_gene_variant BRCA-EU 2 215655 215655 single base substitution T A downstream_gene_variant BRCA-EU 2 215716 215716 single base substitution G T downstream_gene_variant BRCA-EU 2 215762 215762 single base substitution A G downstream_gene_variant BRCA-EU 2 216262 216262 single base substitution C T downstream_gene_variant BRCA-EU 2 216478 216478 single base substitution A T downstream_gene_variant BRCA-EU 2 217288 217288 single base substitution T A downstream_gene_variant BRCA-EU 2 218196 218196 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 218196 218196 single base substitution C T downstream_gene_variant BRCA-EU 2 218196 218196 single base substitution C T exon_variant BRCA-EU 2 218196 218196 single base substitution C T intron_variant BRCA-EU 2 218563 218580 deletion of <=200bp AGAACTATGAGCGTATAA - 3_prime_UTR_variant BRCA-EU 2 218563 218580 deletion of <=200bp AGAACTATGAGCGTATAA - downstream_gene_variant BRCA-EU 2 218563 218580 deletion of <=200bp AGAACTATGAGCGTATAA - exon_variant BRCA-EU 2 218563 218580 deletion of <=200bp AGAACTATGAGCGTATAA - intron_variant BRCA-EU 2 219069 219069 single base substitution G C downstream_gene_variant BRCA-EU 2 219069 219069 single base substitution G C intron_variant BRCA-EU 2 219069 219069 single base substitution G C upstream_gene_variant BRCA-EU 2 219101 219101 single base substitution T C downstream_gene_variant BRCA-EU 2 219101 219101 single base substitution T C intron_variant BRCA-EU 2 219101 219101 single base substitution T C upstream_gene_variant BRCA-EU 2 219789 219789 single base substitution C G downstream_gene_variant BRCA-EU 2 219789 219789 single base substitution C G intron_variant BRCA-EU 2 219789 219789 single base substitution C G upstream_gene_variant BRCA-EU 2 221587 221587 single base substitution C G downstream_gene_variant BRCA-EU 2 221587 221587 single base substitution C G intron_variant BRCA-EU 2 221587 221587 single base substitution C G upstream_gene_variant BRCA-EU 2 223417 223417 single base substitution C T intron_variant BRCA-EU 2 223417 223417 single base substitution C T upstream_gene_variant BRCA-EU 2 223485 223485 single base substitution T C intron_variant BRCA-EU 2 223485 223485 single base substitution T C upstream_gene_variant BRCA-EU 2 223550 223550 single base substitution T C intron_variant BRCA-EU 2 223550 223550 single base substitution T C upstream_gene_variant BRCA-EU 2 223558 223558 single base substitution C G intron_variant BRCA-EU 2 223558 223558 single base substitution C G upstream_gene_variant BRCA-EU 2 224182 224182 single base substitution C G intron_variant BRCA-EU 2 228393 228393 single base substitution C G downstream_gene_variant BRCA-EU 2 228393 228393 single base substitution C G intron_variant BRCA-EU 2 228724 228724 single base substitution C T downstream_gene_variant BRCA-EU 2 228724 228724 single base substitution C T intron_variant BRCA-EU 2 229561 229561 single base substitution C G downstream_gene_variant BRCA-EU 2 229561 229561 single base substitution C G intron_variant BRCA-EU 2 229909 229909 single base substitution T G 3_prime_UTR_variant BRCA-EU 2 229909 229909 single base substitution T G downstream_gene_variant BRCA-EU 2 229909 229909 single base substitution T G intron_variant BRCA-EU 2 230130 230130 single base substitution G A downstream_gene_variant BRCA-EU 2 230130 230130 single base substitution G A intron_variant BRCA-EU 2 230195 230195 single base substitution G A downstream_gene_variant BRCA-EU 2 230195 230195 single base substitution G A intron_variant BRCA-EU 2 230629 230629 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 230629 230629 single base substitution C T downstream_gene_variant BRCA-EU 2 230629 230629 single base substitution C T exon_variant BRCA-EU 2 230629 230629 single base substitution C T intron_variant BRCA-EU 2 231241 231241 single base substitution C G downstream_gene_variant BRCA-EU 2 231241 231241 single base substitution C G intron_variant BRCA-EU 2 231241 231241 single base substitution C G upstream_gene_variant BRCA-EU 2 233301 233301 single base substitution C G intron_variant BRCA-EU 2 233301 233301 single base substitution C G upstream_gene_variant BRCA-EU 2 233770 233770 deletion of <=200bp A - intron_variant BRCA-EU 2 233770 233770 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 233770 233770 insertion of <=200bp - A intron_variant BRCA-EU 2 233770 233770 insertion of <=200bp - A upstream_gene_variant BRCA-EU 2 235214 235214 single base substitution G A downstream_gene_variant BRCA-EU 2 235214 235214 single base substitution G A intron_variant BRCA-EU 2 235214 235214 single base substitution G A upstream_gene_variant BRCA-EU 2 237462 237462 single base substitution A G downstream_gene_variant BRCA-EU 2 237462 237462 single base substitution A G intron_variant BRCA-EU 2 237462 237462 single base substitution A G upstream_gene_variant BRCA-EU 2 241162 241162 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 2 241162 241162 deletion of <=200bp A - intron_variant BRCA-EU 2 241167 241167 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 241167 241167 single base substitution C T intron_variant BRCA-EU 2 242389 242389 deletion of <=200bp A - intron_variant BRCA-EU 2 243158 243158 single base substitution A G intron_variant BRCA-EU 2 243158 243158 single base substitution A G upstream_gene_variant BRCA-EU 2 243418 243418 single base substitution C G intron_variant BRCA-EU 2 243418 243418 single base substitution C G upstream_gene_variant BRCA-EU 2 245867 245867 insertion of <=200bp - A downstream_gene_variant BRCA-EU 2 245867 245867 insertion of <=200bp - A intron_variant BRCA-EU 2 245867 245867 insertion of <=200bp - A upstream_gene_variant BRCA-EU 2 250349 250349 single base substitution A C intron_variant BRCA-EU 2 250349 250349 single base substitution A C upstream_gene_variant BRCA-EU 2 251134 251134 single base substitution C T downstream_gene_variant BRCA-EU 2 251134 251134 single base substitution C T intron_variant BRCA-EU 2 251134 251134 single base substitution C T upstream_gene_variant BRCA-EU 2 252439 252439 single base substitution C A downstream_gene_variant BRCA-EU 2 252439 252439 single base substitution C A intron_variant BRCA-EU 2 252439 252439 single base substitution C A upstream_gene_variant BRCA-EU 2 252690 252690 single base substitution C G downstream_gene_variant BRCA-EU 2 252690 252690 single base substitution C G intron_variant BRCA-EU 2 252690 252690 single base substitution C G upstream_gene_variant BRCA-EU 2 253329 253329 single base substitution C G downstream_gene_variant BRCA-EU 2 253329 253329 single base substitution C G intron_variant BRCA-EU 2 253329 253329 single base substitution C G upstream_gene_variant BRCA-EU 2 253944 253944 single base substitution C G downstream_gene_variant BRCA-EU 2 253944 253944 single base substitution C G intron_variant BRCA-EU 2 253944 253944 single base substitution C G upstream_gene_variant BRCA-EU 2 256485 256485 single base substitution A G 5_prime_UTR_variant BRCA-EU 2 256485 256485 single base substitution A G downstream_gene_variant BRCA-EU 2 256485 256485 single base substitution A G intron_variant BRCA-EU 2 256485 256485 single base substitution A G upstream_gene_variant BRCA-EU 2 259411 259411 single base substitution A C downstream_gene_variant BRCA-EU 2 259411 259411 single base substitution A C intron_variant BRCA-EU 2 259411 259411 single base substitution A C upstream_gene_variant BRCA-EU 2 260980 260980 single base substitution C A 5_prime_UTR_variant BRCA-EU 2 260980 260980 single base substitution C A exon_variant BRCA-EU 2 260980 260980 single base substitution C A intron_variant BRCA-EU 2 260980 260980 single base substitution C A upstream_gene_variant BRCA-EU 2 261383 261383 single base substitution G C intron_variant BRCA-EU 2 261383 261383 single base substitution G C upstream_gene_variant BRCA-EU 2 261705 261705 single base substitution G C intron_variant BRCA-EU 2 261705 261705 single base substitution G C upstream_gene_variant BRCA-EU 2 263265 263265 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 2 263265 263265 single base substitution G C exon_variant BRCA-EU 2 263265 263265 single base substitution G C intron_variant BRCA-EU 2 263265 263265 single base substitution G C upstream_gene_variant BRCA-EU 2 263559 263559 single base substitution C G exon_variant BRCA-EU 2 263559 263559 single base substitution C G intron_variant BRCA-EU 2 263559 263559 single base substitution C G splice_region_variant BRCA-EU 2 263559 263559 single base substitution C G upstream_gene_variant BRCA-EU 2 263981 263981 single base substitution C T exon_variant BRCA-EU 2 263981 263981 single base substitution C T intron_variant BRCA-EU 2 263981 263981 single base substitution C T upstream_gene_variant BRCA-EU 2 264124 264124 single base substitution G C 5_prime_UTR_variant BRCA-EU 2 264124 264124 single base substitution G C exon_variant BRCA-EU 2 264124 264124 single base substitution G C intron_variant BRCA-EU 2 264124 264124 single base substitution G C upstream_gene_variant BRCA-EU 2 264159 264159 single base substitution C T 5_prime_UTR_variant BRCA-EU 2 264159 264159 single base substitution C T exon_variant BRCA-EU 2 264159 264159 single base substitution C T intron_variant BRCA-EU 2 264159 264159 single base substitution C T upstream_gene_variant BRCA-EU 2 264325 264325 single base substitution C G exon_variant BRCA-EU 2 264325 264325 single base substitution C G intron_variant BRCA-EU 2 264325 264325 single base substitution C G upstream_gene_variant BRCA-EU 2 264406 264406 single base substitution G C intron_variant BRCA-EU 2 264406 264406 single base substitution G C upstream_gene_variant BRCA-EU 2 264929 264929 single base substitution A C intron_variant BRCA-EU 2 264929 264929 single base substitution A C upstream_gene_variant BRCA-EU 2 267111 267111 single base substitution G A upstream_gene_variant BRCA-EU 2 268164 268164 single base substitution G T upstream_gene_variant BRCA-EU 2 268712 268712 single base substitution G A upstream_gene_variant BRCA-EU 2 268733 268733 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 268814 268814 single base substitution C T upstream_gene_variant BRCA-EU 2 269957 269957 single base substitution T G upstream_gene_variant BRCA-FR 2 219069 219069 single base substitution G C downstream_gene_variant BRCA-FR 2 219069 219069 single base substitution G C intron_variant BRCA-FR 2 219069 219069 single base substitution G C upstream_gene_variant BRCA-FR 2 223558 223558 single base substitution C G intron_variant BRCA-FR 2 223558 223558 single base substitution C G upstream_gene_variant BRCA-FR 2 224182 224182 single base substitution C G intron_variant BRCA-FR 2 228720 228720 single base substitution C G downstream_gene_variant BRCA-FR 2 228720 228720 single base substitution C G intron_variant BRCA-FR 2 231241 231241 single base substitution C G downstream_gene_variant BRCA-FR 2 231241 231241 single base substitution C G intron_variant BRCA-FR 2 231241 231241 single base substitution C G upstream_gene_variant BRCA-FR 2 239332 239332 single base substitution G T downstream_gene_variant BRCA-FR 2 239332 239332 single base substitution G T intron_variant BRCA-FR 2 243158 243158 single base substitution A G intron_variant BRCA-FR 2 243158 243158 single base substitution A G upstream_gene_variant BRCA-FR 2 243418 243418 single base substitution C G intron_variant BRCA-FR 2 243418 243418 single base substitution C G upstream_gene_variant BRCA-FR 2 252439 252439 single base substitution C A downstream_gene_variant BRCA-FR 2 252439 252439 single base substitution C A intron_variant BRCA-FR 2 252439 252439 single base substitution C A upstream_gene_variant BRCA-FR 2 253944 253944 single base substitution C G downstream_gene_variant BRCA-FR 2 253944 253944 single base substitution C G intron_variant BRCA-FR 2 253944 253944 single base substitution C G upstream_gene_variant BRCA-FR 2 268712 268712 single base substitution G A upstream_gene_variant BRCA-UK 2 219069 219069 single base substitution G A downstream_gene_variant BRCA-UK 2 219069 219069 single base substitution G A intron_variant BRCA-UK 2 219069 219069 single base substitution G A upstream_gene_variant BRCA-UK 2 227407 227407 single base substitution G A downstream_gene_variant BRCA-UK 2 227407 227407 single base substitution G A intron_variant BRCA-UK 2 230370 230370 single base substitution G A downstream_gene_variant BRCA-UK 2 230370 230370 single base substitution G A intron_variant BRCA-UK 2 253329 253329 single base substitution C G downstream_gene_variant BRCA-UK 2 253329 253329 single base substitution C G intron_variant BRCA-UK 2 253329 253329 single base substitution C G upstream_gene_variant BRCA-US 2 230038 230038 single base substitution C G 3_prime_UTR_variant BRCA-US 2 230038 230038 single base substitution C G downstream_gene_variant BRCA-US 2 230038 230038 single base substitution C G exon_variant BRCA-US 2 230038 230038 single base substitution C G missense_variant E141Q 421G>C BRCA-US 2 230038 230038 single base substitution C G missense_variant E169Q 505G>C BRCA-US 2 230038 230038 single base substitution C G missense_variant E193Q 577G>C BRCA-US 2 230038 230038 single base substitution C G missense_variant E237Q 709G>C BRCA-US 2 262335 262335 single base substitution A G exon_variant BRCA-US 2 262335 262335 single base substitution A G intron_variant BRCA-US 2 262335 262335 single base substitution A G upstream_gene_variant BTCA-JP 2 234208 234208 single base substitution T A exon_variant BTCA-JP 2 234208 234208 single base substitution T A missense_variant N118I 353A>T BTCA-JP 2 234208 234208 single base substitution T A missense_variant N119I 356A>T BTCA-JP 2 234208 234208 single base substitution T A missense_variant N23I 68A>T BTCA-JP 2 234208 234208 single base substitution T A missense_variant N8I 23A>T BTCA-JP 2 234208 234208 single base substitution T A missense_variant N94I 281A>T BTCA-JP 2 234208 234208 single base substitution T A upstream_gene_variant BTCA-JP 2 247521 247521 single base substitution G A downstream_gene_variant BTCA-JP 2 247521 247521 single base substitution G A intron_variant BTCA-JP 2 247521 247521 single base substitution G A upstream_gene_variant CLLE-ES 2 220601 220601 single base substitution C T downstream_gene_variant CLLE-ES 2 220601 220601 single base substitution C T intron_variant CLLE-ES 2 220601 220601 single base substitution C T upstream_gene_variant CLLE-ES 2 247607 247607 single base substitution T A downstream_gene_variant CLLE-ES 2 247607 247607 single base substitution T A splice_region_variant CLLE-ES 2 247607 247607 single base substitution T A upstream_gene_variant CLLE-ES 2 255890 255890 single base substitution T C downstream_gene_variant CLLE-ES 2 255890 255890 single base substitution T C exon_variant CLLE-ES 2 255890 255890 single base substitution T C intron_variant CLLE-ES 2 255890 255890 single base substitution T C upstream_gene_variant CLLE-ES 2 256359 256359 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant CLLE-ES 2 256359 256359 single base substitution A C downstream_gene_variant CLLE-ES 2 256359 256359 single base substitution A C exon_variant CLLE-ES 2 256359 256359 single base substitution A C intron_variant CLLE-ES 2 256359 256359 single base substitution A C upstream_gene_variant CLLE-ES 2 257969 257969 single base substitution T C downstream_gene_variant CLLE-ES 2 257969 257969 single base substitution T C intron_variant CLLE-ES 2 257969 257969 single base substitution T C upstream_gene_variant CLLE-ES 2 267248 267248 single base substitution T C upstream_gene_variant COAD-US 2 218858 218858 single base substitution G A 3_prime_UTR_variant COAD-US 2 218858 218858 single base substitution G A downstream_gene_variant COAD-US 2 218858 218858 single base substitution G A exon_variant COAD-US 2 218858 218858 single base substitution G A stop_gained R213* 637C>T COAD-US 2 218858 218858 single base substitution G A stop_gained R232* 694C>T COAD-US 2 218858 218858 single base substitution G A stop_gained R241* 721C>T COAD-US 2 218858 218858 single base substitution G A stop_gained R309* 925C>T COAD-US 2 218858 218858 single base substitution G A stop_gained R328* 982C>T COAD-US 2 249813 249813 single base substitution T C 5_prime_UTR_variant COAD-US 2 249813 249813 single base substitution T C exon_variant COAD-US 2 249813 249813 single base substitution T C synonymous_variant A23A 69A>G COAD-US 2 249813 249813 single base substitution T C synonymous_variant A47A 141A>G COAD-US 2 249813 249813 single base substitution T C synonymous_variant A48A 144A>G COAD-US 2 249813 249813 single base substitution T C upstream_gene_variant COAD-US 2 249832 249832 single base substitution G A 5_prime_UTR_variant COAD-US 2 249832 249832 single base substitution G A exon_variant COAD-US 2 249832 249832 single base substitution G A missense_variant A17V 50C>T COAD-US 2 249832 249832 single base substitution G A missense_variant A41V 122C>T COAD-US 2 249832 249832 single base substitution G A missense_variant A42V 125C>T COAD-US 2 249832 249832 single base substitution G A upstream_gene_variant COAD-US 2 253085 253085 single base substitution G A 5_prime_UTR_variant COAD-US 2 253085 253085 single base substitution G A downstream_gene_variant COAD-US 2 253085 253085 single base substitution G A exon_variant COAD-US 2 253085 253085 single base substitution G A missense_variant S10L 29C>T COAD-US 2 253085 253085 single base substitution G A missense_variant S11L 32C>T COAD-US 2 253085 253085 single base substitution G A upstream_gene_variant COCA-CN 2 214564 214564 single base substitution A G downstream_gene_variant COCA-CN 2 218852 218852 single base substitution G T 3_prime_UTR_variant COCA-CN 2 218852 218852 single base substitution G T downstream_gene_variant COCA-CN 2 218852 218852 single base substitution G T exon_variant COCA-CN 2 218852 218852 single base substitution G T missense_variant Q215K 643C>A COCA-CN 2 218852 218852 single base substitution G T missense_variant Q234K 700C>A COCA-CN 2 218852 218852 single base substitution G T missense_variant Q243K 727C>A COCA-CN 2 218852 218852 single base substitution G T missense_variant Q311K 931C>A COCA-CN 2 218852 218852 single base substitution G T missense_variant Q330K 988C>A COCA-CN 2 227019 227019 single base substitution C T downstream_gene_variant COCA-CN 2 227019 227019 single base substitution C T intron_variant COCA-CN 2 230599 230599 single base substitution T C 3_prime_UTR_variant COCA-CN 2 230599 230599 single base substitution T C downstream_gene_variant COCA-CN 2 230599 230599 single base substitution T C exon_variant COCA-CN 2 230599 230599 single base substitution T C intron_variant COCA-CN 2 243586 243586 single base substitution G A intron_variant COCA-CN 2 243586 243586 single base substitution G A upstream_gene_variant COCA-CN 2 247319 247319 single base substitution G A downstream_gene_variant COCA-CN 2 247319 247319 single base substitution G A intron_variant COCA-CN 2 247319 247319 single base substitution G A upstream_gene_variant COCA-CN 2 247548 247548 single base substitution A G 5_prime_UTR_variant COCA-CN 2 247548 247548 single base substitution A G downstream_gene_variant COCA-CN 2 247548 247548 single base substitution A G exon_variant COCA-CN 2 247548 247548 single base substitution A G missense_variant I69T 206T>C COCA-CN 2 247548 247548 single base substitution A G missense_variant I93T 278T>C COCA-CN 2 247548 247548 single base substitution A G missense_variant I94T 281T>C COCA-CN 2 247548 247548 single base substitution A G upstream_gene_variant COCA-CN 2 249721 249721 single base substitution G A downstream_gene_variant COCA-CN 2 249721 249721 single base substitution G A intron_variant COCA-CN 2 262755 262755 single base substitution G T 5_prime_UTR_variant COCA-CN 2 262755 262755 single base substitution G T exon_variant COCA-CN 2 262755 262755 single base substitution G T intron_variant COCA-CN 2 262755 262755 single base substitution G T splice_region_variant COCA-CN 2 262755 262755 single base substitution G T upstream_gene_variant EOPC-DE 2 214625 214625 single base substitution G C downstream_gene_variant EOPC-DE 2 233517 233517 single base substitution T C intron_variant EOPC-DE 2 233517 233517 single base substitution T C upstream_gene_variant EOPC-DE 2 245441 245441 single base substitution T C downstream_gene_variant EOPC-DE 2 245441 245441 single base substitution T C intron_variant EOPC-DE 2 245441 245441 single base substitution T C upstream_gene_variant EOPC-DE 2 268191 268191 single base substitution G T upstream_gene_variant ESAD-UK 2 212824 212824 single base substitution T G downstream_gene_variant ESAD-UK 2 213427 213427 single base substitution A C downstream_gene_variant ESAD-UK 2 213951 213951 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 216322 216322 single base substitution C T downstream_gene_variant ESAD-UK 2 216566 216566 single base substitution C G downstream_gene_variant ESAD-UK 2 216815 216832 deletion of <=200bp TATTCTGCTTGTTCATAG - downstream_gene_variant ESAD-UK 2 221007 221007 single base substitution G A downstream_gene_variant ESAD-UK 2 221007 221007 single base substitution G A intron_variant ESAD-UK 2 221007 221007 single base substitution G A upstream_gene_variant ESAD-UK 2 222578 222578 single base substitution C T exon_variant ESAD-UK 2 222578 222578 single base substitution C T intron_variant ESAD-UK 2 222578 222578 single base substitution C T upstream_gene_variant ESAD-UK 2 223437 223437 single base substitution A G intron_variant ESAD-UK 2 223437 223437 single base substitution A G upstream_gene_variant ESAD-UK 2 224492 224492 single base substitution G C intron_variant ESAD-UK 2 231568 231568 insertion of <=200bp - T downstream_gene_variant ESAD-UK 2 231568 231568 insertion of <=200bp - T intron_variant ESAD-UK 2 231568 231568 insertion of <=200bp - T upstream_gene_variant ESAD-UK 2 232898 232898 deletion of <=200bp T - downstream_gene_variant ESAD-UK 2 232898 232898 deletion of <=200bp T - intron_variant ESAD-UK 2 232898 232898 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 234304 234304 single base substitution C T intron_variant ESAD-UK 2 234304 234304 single base substitution C T upstream_gene_variant ESAD-UK 2 234884 234884 single base substitution T C downstream_gene_variant ESAD-UK 2 234884 234884 single base substitution T C intron_variant ESAD-UK 2 234884 234884 single base substitution T C upstream_gene_variant ESAD-UK 2 236755 236755 single base substitution G A downstream_gene_variant ESAD-UK 2 236755 236755 single base substitution G A intron_variant ESAD-UK 2 236755 236755 single base substitution G A upstream_gene_variant ESAD-UK 2 237651 237651 single base substitution C A downstream_gene_variant ESAD-UK 2 237651 237651 single base substitution C A intron_variant ESAD-UK 2 237651 237651 single base substitution C A upstream_gene_variant ESAD-UK 2 238708 238708 single base substitution G A downstream_gene_variant ESAD-UK 2 238708 238708 single base substitution G A intron_variant ESAD-UK 2 238708 238708 single base substitution G A upstream_gene_variant ESAD-UK 2 239832 239832 single base substitution A C 3_prime_UTR_variant ESAD-UK 2 239832 239832 single base substitution A C intron_variant ESAD-UK 2 243636 243636 single base substitution A G intron_variant ESAD-UK 2 243636 243636 single base substitution A G upstream_gene_variant ESAD-UK 2 246360 246360 single base substitution T G downstream_gene_variant ESAD-UK 2 246360 246360 single base substitution T G intron_variant ESAD-UK 2 246360 246360 single base substitution T G upstream_gene_variant ESAD-UK 2 246715 246715 single base substitution G T downstream_gene_variant ESAD-UK 2 246715 246715 single base substitution G T intron_variant ESAD-UK 2 246715 246715 single base substitution G T upstream_gene_variant ESAD-UK 2 247219 247219 single base substitution C G downstream_gene_variant ESAD-UK 2 247219 247219 single base substitution C G intron_variant ESAD-UK 2 247219 247219 single base substitution C G upstream_gene_variant ESAD-UK 2 247308 247308 single base substitution G C downstream_gene_variant ESAD-UK 2 247308 247308 single base substitution G C intron_variant ESAD-UK 2 247308 247308 single base substitution G C upstream_gene_variant ESAD-UK 2 248897 248897 deletion of <=200bp T - downstream_gene_variant ESAD-UK 2 248897 248897 deletion of <=200bp T - intron_variant ESAD-UK 2 250465 250465 single base substitution T G intron_variant ESAD-UK 2 250465 250465 single base substitution T G upstream_gene_variant ESAD-UK 2 251246 251246 single base substitution C T downstream_gene_variant ESAD-UK 2 251246 251246 single base substitution C T intron_variant ESAD-UK 2 251246 251246 single base substitution C T upstream_gene_variant ESAD-UK 2 252446 252446 single base substitution G A downstream_gene_variant ESAD-UK 2 252446 252446 single base substitution G A intron_variant ESAD-UK 2 252446 252446 single base substitution G A upstream_gene_variant ESAD-UK 2 252868 252868 single base substitution G T downstream_gene_variant ESAD-UK 2 252868 252868 single base substitution G T intron_variant ESAD-UK 2 252868 252868 single base substitution G T upstream_gene_variant ESAD-UK 2 254541 254541 single base substitution G A downstream_gene_variant ESAD-UK 2 254541 254541 single base substitution G A intron_variant ESAD-UK 2 254541 254541 single base substitution G A upstream_gene_variant ESAD-UK 2 256906 256906 single base substitution A C downstream_gene_variant ESAD-UK 2 256906 256906 single base substitution A C intron_variant ESAD-UK 2 256906 256906 single base substitution A C upstream_gene_variant ESAD-UK 2 258981 258981 single base substitution C A downstream_gene_variant ESAD-UK 2 258981 258981 single base substitution C A intron_variant ESAD-UK 2 258981 258981 single base substitution C A upstream_gene_variant ESAD-UK 2 259930 259930 single base substitution A G downstream_gene_variant ESAD-UK 2 259930 259930 single base substitution A G exon_variant ESAD-UK 2 259930 259930 single base substitution A G intron_variant ESAD-UK 2 259930 259930 single base substitution A G upstream_gene_variant ESAD-UK 2 260023 260023 single base substitution C A downstream_gene_variant ESAD-UK 2 260023 260023 single base substitution C A exon_variant ESAD-UK 2 260023 260023 single base substitution C A intron_variant ESAD-UK 2 260023 260023 single base substitution C A upstream_gene_variant ESAD-UK 2 260133 260133 single base substitution C T 5_prime_UTR_variant ESAD-UK 2 260133 260133 single base substitution C T downstream_gene_variant ESAD-UK 2 260133 260133 single base substitution C T exon_variant ESAD-UK 2 260133 260133 single base substitution C T intron_variant ESAD-UK 2 260133 260133 single base substitution C T upstream_gene_variant ESAD-UK 2 261523 261523 single base substitution T A intron_variant ESAD-UK 2 261523 261523 single base substitution T A upstream_gene_variant ESAD-UK 2 261603 261603 single base substitution G A intron_variant ESAD-UK 2 261603 261603 single base substitution G A upstream_gene_variant ESAD-UK 2 261682 261682 single base substitution C T intron_variant ESAD-UK 2 261682 261682 single base substitution C T upstream_gene_variant ESAD-UK 2 263193 263193 single base substitution A C intron_variant ESAD-UK 2 263193 263193 single base substitution A C upstream_gene_variant ESAD-UK 2 266385 266385 single base substitution G A exon_variant ESAD-UK 2 266385 266385 single base substitution G A upstream_gene_variant ESAD-UK 2 266870 266870 single base substitution C T upstream_gene_variant ESAD-UK 2 269663 269663 single base substitution C T upstream_gene_variant ESCA-CN 2 218970 218970 single base substitution C T 3_prime_UTR_variant ESCA-CN 2 218970 218970 single base substitution C T downstream_gene_variant ESCA-CN 2 218970 218970 single base substitution C T exon_variant ESCA-CN 2 218970 218970 single base substitution C T synonymous_variant A175A 525G>A ESCA-CN 2 218970 218970 single base substitution C T synonymous_variant A194A 582G>A ESCA-CN 2 218970 218970 single base substitution C T synonymous_variant A203A 609G>A ESCA-CN 2 218970 218970 single base substitution C T synonymous_variant A271A 813G>A ESCA-CN 2 218970 218970 single base substitution C T synonymous_variant A290A 870G>A ESCA-CN 2 218970 218970 single base substitution C T upstream_gene_variant KIRC-US 2 265004 265004 single base substitution C G intron_variant KIRC-US 2 265004 265004 single base substitution C G upstream_gene_variant LAML-KR 2 214540 214540 single base substitution G A downstream_gene_variant LAML-KR 2 214552 214552 single base substitution C T downstream_gene_variant LAML-KR 2 235627 235627 single base substitution T C downstream_gene_variant LAML-KR 2 235627 235627 single base substitution T C intron_variant LAML-KR 2 235627 235627 single base substitution T C upstream_gene_variant LAML-KR 2 236040 236040 single base substitution T C downstream_gene_variant LAML-KR 2 236040 236040 single base substitution T C intron_variant LAML-KR 2 236040 236040 single base substitution T C upstream_gene_variant LICA-FR 2 231129 231129 single base substitution T C downstream_gene_variant LICA-FR 2 231129 231129 single base substitution T C exon_variant LICA-FR 2 231129 231129 single base substitution T C missense_variant Q103R 308A>G LICA-FR 2 231129 231129 single base substitution T C missense_variant Q131R 392A>G LICA-FR 2 231129 231129 single base substitution T C missense_variant Q155R 464A>G LICA-FR 2 231129 231129 single base substitution T C missense_variant Q199R 596A>G LICA-FR 2 231129 231129 single base substitution T C missense_variant Q45R 134A>G LICA-FR 2 261959 261959 single base substitution T C intron_variant LICA-FR 2 261959 261959 single base substitution T C upstream_gene_variant LIHC-US 2 218860 218860 single base substitution A C 3_prime_UTR_variant LIHC-US 2 218860 218860 single base substitution A C downstream_gene_variant LIHC-US 2 218860 218860 single base substitution A C exon_variant LIHC-US 2 218860 218860 single base substitution A C missense_variant L212R 635T>G LIHC-US 2 218860 218860 single base substitution A C missense_variant L231R 692T>G LIHC-US 2 218860 218860 single base substitution A C missense_variant L240R 719T>G LIHC-US 2 218860 218860 single base substitution A C missense_variant L308R 923T>G LIHC-US 2 218860 218860 single base substitution A C missense_variant L327R 980T>G LIHC-US 2 234273 234273 single base substitution C T splice_acceptor_variant LIHC-US 2 234273 234273 single base substitution C T upstream_gene_variant LINC-JP 2 220928 220928 single base substitution T C downstream_gene_variant LINC-JP 2 220928 220928 single base substitution T C intron_variant LINC-JP 2 220928 220928 single base substitution T C upstream_gene_variant LINC-JP 2 230080 230080 single base substitution A G downstream_gene_variant LINC-JP 2 230080 230080 single base substitution A G intron_variant LINC-JP 2 231006 231007 deletion of <=200bp AT - downstream_gene_variant LINC-JP 2 231006 231007 deletion of <=200bp AT - exon_variant LINC-JP 2 231006 231007 deletion of <=200bp AT - frameshift_variant M86 LINC-JP 2 231006 231007 deletion of <=200bp AT - intron_variant LINC-JP 2 244585 244585 single base substitution G A intron_variant LINC-JP 2 244585 244585 single base substitution G A upstream_gene_variant LINC-JP 2 244586 244586 single base substitution C A intron_variant LINC-JP 2 244586 244586 single base substitution C A upstream_gene_variant LINC-JP 2 249654 249654 single base substitution T A downstream_gene_variant LINC-JP 2 249654 249654 single base substitution T A intron_variant LINC-JP 2 252743 252743 single base substitution A C downstream_gene_variant LINC-JP 2 252743 252743 single base substitution A C intron_variant LINC-JP 2 252743 252743 single base substitution A C upstream_gene_variant LINC-JP 2 252853 252853 single base substitution G C downstream_gene_variant LINC-JP 2 252853 252853 single base substitution G C intron_variant LINC-JP 2 252853 252853 single base substitution G C upstream_gene_variant LIRI-JP 2 214022 214022 single base substitution C T downstream_gene_variant LIRI-JP 2 219718 219718 single base substitution T A downstream_gene_variant LIRI-JP 2 219718 219718 single base substitution T A intron_variant LIRI-JP 2 219718 219718 single base substitution T A upstream_gene_variant LIRI-JP 2 219773 219773 single base substitution T C downstream_gene_variant LIRI-JP 2 219773 219773 single base substitution T C intron_variant LIRI-JP 2 219773 219773 single base substitution T C upstream_gene_variant LIRI-JP 2 221280 221280 single base substitution A C downstream_gene_variant LIRI-JP 2 221280 221280 single base substitution A C intron_variant LIRI-JP 2 221280 221280 single base substitution A C upstream_gene_variant LIRI-JP 2 224432 224432 single base substitution A G intron_variant LIRI-JP 2 226707 226707 single base substitution T A downstream_gene_variant LIRI-JP 2 226707 226707 single base substitution T A intron_variant LIRI-JP 2 228519 228519 single base substitution C T downstream_gene_variant LIRI-JP 2 228519 228519 single base substitution C T intron_variant LIRI-JP 2 229961 229961 single base substitution T G downstream_gene_variant LIRI-JP 2 229961 229961 single base substitution T G missense_variant K218N 654A>C LIRI-JP 2 229961 229961 single base substitution T G splice_region_variant LIRI-JP 2 230296 230296 single base substitution T C downstream_gene_variant LIRI-JP 2 230296 230296 single base substitution T C intron_variant LIRI-JP 2 230772 230774 deletion of <=200bp TAT - 3_prime_UTR_variant LIRI-JP 2 230772 230774 deletion of <=200bp TAT - downstream_gene_variant LIRI-JP 2 230772 230774 deletion of <=200bp TAT - exon_variant LIRI-JP 2 230772 230774 deletion of <=200bp TAT - intron_variant LIRI-JP 2 231171 231171 single base substitution C T downstream_gene_variant LIRI-JP 2 231171 231171 single base substitution C T exon_variant LIRI-JP 2 231171 231171 single base substitution C T missense_variant R117Q 350G>A LIRI-JP 2 231171 231171 single base substitution C T missense_variant R141Q 422G>A LIRI-JP 2 231171 231171 single base substitution C T missense_variant R185Q 554G>A LIRI-JP 2 231171 231171 single base substitution C T missense_variant R31Q 92G>A LIRI-JP 2 231171 231171 single base substitution C T missense_variant R89Q 266G>A LIRI-JP 2 231171 231171 single base substitution C T upstream_gene_variant LIRI-JP 2 231298 231298 single base substitution T C downstream_gene_variant LIRI-JP 2 231298 231298 single base substitution T C intron_variant LIRI-JP 2 231298 231298 single base substitution T C upstream_gene_variant LIRI-JP 2 233345 233345 single base substitution G A intron_variant LIRI-JP 2 233345 233345 single base substitution G A upstream_gene_variant LIRI-JP 2 233433 233433 single base substitution G T intron_variant LIRI-JP 2 233433 233433 single base substitution G T upstream_gene_variant LIRI-JP 2 245736 245736 single base substitution A T downstream_gene_variant LIRI-JP 2 245736 245736 single base substitution A T intron_variant LIRI-JP 2 245736 245736 single base substitution A T upstream_gene_variant LIRI-JP 2 246888 246888 single base substitution G A downstream_gene_variant LIRI-JP 2 246888 246888 single base substitution G A intron_variant LIRI-JP 2 246888 246888 single base substitution G A upstream_gene_variant LIRI-JP 2 250202 250202 single base substitution T C intron_variant LIRI-JP 2 250202 250202 single base substitution T C upstream_gene_variant LIRI-JP 2 251004 251004 single base substitution C T downstream_gene_variant LIRI-JP 2 251004 251004 single base substitution C T intron_variant LIRI-JP 2 251004 251004 single base substitution C T upstream_gene_variant LIRI-JP 2 251537 251537 single base substitution G C downstream_gene_variant LIRI-JP 2 251537 251537 single base substitution G C intron_variant LIRI-JP 2 251537 251537 single base substitution G C upstream_gene_variant LIRI-JP 2 260133 260133 single base substitution C T 5_prime_UTR_variant LIRI-JP 2 260133 260133 single base substitution C T downstream_gene_variant LIRI-JP 2 260133 260133 single base substitution C T exon_variant LIRI-JP 2 260133 260133 single base substitution C T intron_variant LIRI-JP 2 260133 260133 single base substitution C T upstream_gene_variant LIRI-JP 2 260952 260952 single base substitution G T 5_prime_UTR_variant LIRI-JP 2 260952 260952 single base substitution G T exon_variant LIRI-JP 2 260952 260952 single base substitution G T intron_variant LIRI-JP 2 260952 260952 single base substitution G T upstream_gene_variant LIRI-JP 2 262630 262630 single base substitution C A exon_variant LIRI-JP 2 262630 262630 single base substitution C A intron_variant LIRI-JP 2 262630 262630 single base substitution C A splice_donor_variant LIRI-JP 2 262630 262630 single base substitution C A upstream_gene_variant LIRI-JP 2 265397 265397 single base substitution G C intron_variant LIRI-JP 2 265397 265397 single base substitution G C upstream_gene_variant LIRI-JP 2 265861 265861 single base substitution C T intron_variant LIRI-JP 2 265861 265861 single base substitution C T upstream_gene_variant LIRI-JP 2 268327 268327 single base substitution A C upstream_gene_variant LIRI-JP 2 268417 268417 single base substitution T A upstream_gene_variant LIRI-JP 2 268465 268465 single base substitution A G upstream_gene_variant LIRI-JP 2 270348 270348 single base substitution G T upstream_gene_variant LUSC-KR 2 213300 213300 single base substitution C G downstream_gene_variant LUSC-KR 2 214444 214444 single base substitution G A downstream_gene_variant LUSC-KR 2 214504 214504 single base substitution C T downstream_gene_variant LUSC-KR 2 214540 214540 single base substitution G A downstream_gene_variant LUSC-KR 2 214552 214552 single base substitution C T downstream_gene_variant LUSC-KR 2 215863 215863 single base substitution C G downstream_gene_variant LUSC-KR 2 218386 218386 single base substitution G A 3_prime_UTR_variant LUSC-KR 2 218386 218386 single base substitution G A downstream_gene_variant LUSC-KR 2 218386 218386 single base substitution G A exon_variant LUSC-KR 2 218386 218386 single base substitution G A intron_variant LUSC-KR 2 220575 220575 single base substitution C T downstream_gene_variant LUSC-KR 2 220575 220575 single base substitution C T intron_variant LUSC-KR 2 220575 220575 single base substitution C T upstream_gene_variant LUSC-KR 2 221669 221669 single base substitution T A downstream_gene_variant LUSC-KR 2 221669 221669 single base substitution T A intron_variant LUSC-KR 2 221669 221669 single base substitution T A upstream_gene_variant LUSC-KR 2 224919 224919 single base substitution A G downstream_gene_variant LUSC-KR 2 224919 224919 single base substitution A G intron_variant LUSC-KR 2 224919 224919 single base substitution A G splice_region_variant LUSC-KR 2 225425 225425 single base substitution C A downstream_gene_variant LUSC-KR 2 225425 225425 single base substitution C A intron_variant LUSC-KR 2 225636 225636 single base substitution A C downstream_gene_variant LUSC-KR 2 225636 225636 single base substitution A C intron_variant LUSC-KR 2 225833 225833 single base substitution C A downstream_gene_variant LUSC-KR 2 225833 225833 single base substitution C A intron_variant LUSC-KR 2 226991 226991 single base substitution T C downstream_gene_variant LUSC-KR 2 226991 226991 single base substitution T C intron_variant LUSC-KR 2 228507 228507 single base substitution T C downstream_gene_variant LUSC-KR 2 228507 228507 single base substitution T C intron_variant LUSC-KR 2 229928 229928 single base substitution A C downstream_gene_variant LUSC-KR 2 229928 229928 single base substitution A C intron_variant LUSC-KR 2 229928 229928 single base substitution A C missense_variant I229M 687T>G LUSC-KR 2 232827 232827 single base substitution T A downstream_gene_variant LUSC-KR 2 232827 232827 single base substitution T A intron_variant LUSC-KR 2 232827 232827 single base substitution T A upstream_gene_variant LUSC-KR 2 233502 233502 single base substitution T C intron_variant LUSC-KR 2 233502 233502 single base substitution T C upstream_gene_variant LUSC-KR 2 235425 235425 single base substitution T C downstream_gene_variant LUSC-KR 2 235425 235425 single base substitution T C intron_variant LUSC-KR 2 235425 235425 single base substitution T C upstream_gene_variant LUSC-KR 2 235585 235585 single base substitution C T downstream_gene_variant LUSC-KR 2 235585 235585 single base substitution C T intron_variant LUSC-KR 2 235585 235585 single base substitution C T upstream_gene_variant LUSC-KR 2 235898 235898 single base substitution T C downstream_gene_variant LUSC-KR 2 235898 235898 single base substitution T C intron_variant LUSC-KR 2 235898 235898 single base substitution T C upstream_gene_variant LUSC-KR 2 236229 236229 single base substitution C T downstream_gene_variant LUSC-KR 2 236229 236229 single base substitution C T intron_variant LUSC-KR 2 236229 236229 single base substitution C T upstream_gene_variant LUSC-KR 2 238604 238604 single base substitution T A downstream_gene_variant LUSC-KR 2 238604 238604 single base substitution T A intron_variant LUSC-KR 2 238604 238604 single base substitution T A upstream_gene_variant LUSC-KR 2 241703 241703 single base substitution C G 3_prime_UTR_variant LUSC-KR 2 241703 241703 single base substitution C G intron_variant LUSC-KR 2 247739 247739 single base substitution T A downstream_gene_variant LUSC-KR 2 247739 247739 single base substitution T A intron_variant LUSC-KR 2 247739 247739 single base substitution T A upstream_gene_variant LUSC-KR 2 254838 254838 single base substitution T C downstream_gene_variant LUSC-KR 2 254838 254838 single base substitution T C intron_variant LUSC-KR 2 254838 254838 single base substitution T C upstream_gene_variant LUSC-KR 2 259644 259644 single base substitution T C downstream_gene_variant LUSC-KR 2 259644 259644 single base substitution T C exon_variant LUSC-KR 2 259644 259644 single base substitution T C intron_variant LUSC-KR 2 259644 259644 single base substitution T C upstream_gene_variant LUSC-KR 2 259812 259812 single base substitution C A downstream_gene_variant LUSC-KR 2 259812 259812 single base substitution C A exon_variant LUSC-KR 2 259812 259812 single base substitution C A intron_variant LUSC-KR 2 259812 259812 single base substitution C A upstream_gene_variant LUSC-KR 2 264426 264426 single base substitution C A intron_variant LUSC-KR 2 264426 264426 single base substitution C A upstream_gene_variant LUSC-KR 2 264856 264856 single base substitution G T exon_variant LUSC-KR 2 264856 264856 single base substitution G T intron_variant LUSC-KR 2 264856 264856 single base substitution G T upstream_gene_variant LUSC-KR 2 264978 264978 single base substitution C T intron_variant LUSC-KR 2 264978 264978 single base substitution C T upstream_gene_variant LUSC-KR 2 269316 269316 single base substitution G T upstream_gene_variant LUSC-US 2 229996 229996 single base substitution C A 3_prime_UTR_variant LUSC-US 2 229996 229996 single base substitution C A downstream_gene_variant LUSC-US 2 229996 229996 single base substitution C A exon_variant LUSC-US 2 229996 229996 single base substitution C A missense_variant A155S 463G>T LUSC-US 2 229996 229996 single base substitution C A missense_variant A183S 547G>T LUSC-US 2 229996 229996 single base substitution C A missense_variant A207S 619G>T LUSC-US 2 229996 229996 single base substitution C A missense_variant A251S 751G>T LUSC-US 2 233210 233210 single base substitution C A exon_variant LUSC-US 2 233210 233210 single base substitution C A intron_variant LUSC-US 2 233210 233210 single base substitution C A missense_variant A142S 424G>T LUSC-US 2 233210 233210 single base substitution C A missense_variant A46S 136G>T LUSC-US 2 233210 233210 single base substitution C A upstream_gene_variant MALY-DE 2 213895 213895 single base substitution G A downstream_gene_variant MALY-DE 2 213951 213951 insertion of <=200bp - A downstream_gene_variant MALY-DE 2 214540 214540 single base substitution G A downstream_gene_variant MALY-DE 2 219833 219833 single base substitution C A downstream_gene_variant MALY-DE 2 219833 219833 single base substitution C A intron_variant MALY-DE 2 219833 219833 single base substitution C A upstream_gene_variant MALY-DE 2 220130 220130 single base substitution C A downstream_gene_variant MALY-DE 2 220130 220130 single base substitution C A intron_variant MALY-DE 2 220130 220130 single base substitution C A upstream_gene_variant MALY-DE 2 223120 223120 single base substitution C T intron_variant MALY-DE 2 223120 223120 single base substitution C T upstream_gene_variant MALY-DE 2 227524 227524 single base substitution G T downstream_gene_variant MALY-DE 2 227524 227524 single base substitution G T intron_variant MALY-DE 2 230348 230348 single base substitution G T downstream_gene_variant MALY-DE 2 230348 230348 single base substitution G T intron_variant MALY-DE 2 233279 233279 single base substitution G A intron_variant MALY-DE 2 233279 233279 single base substitution G A upstream_gene_variant MALY-DE 2 234233 234233 single base substitution C T exon_variant MALY-DE 2 234233 234233 single base substitution C T missense_variant V110I 328G>A MALY-DE 2 234233 234233 single base substitution C T missense_variant V111I 331G>A MALY-DE 2 234233 234233 single base substitution C T missense_variant V15I 43G>A MALY-DE 2 234233 234233 single base substitution C T missense_variant V86I 256G>A MALY-DE 2 234233 234233 single base substitution C T upstream_gene_variant MALY-DE 2 237932 237932 single base substitution G T downstream_gene_variant MALY-DE 2 237932 237932 single base substitution G T intron_variant MALY-DE 2 237932 237932 single base substitution G T upstream_gene_variant MALY-DE 2 239612 239612 single base substitution C T 3_prime_UTR_variant MALY-DE 2 239612 239612 single base substitution C T intron_variant MALY-DE 2 243001 243001 single base substitution T G intron_variant MALY-DE 2 243001 243001 single base substitution T G upstream_gene_variant MALY-DE 2 244461 244461 single base substitution A T intron_variant MALY-DE 2 244461 244461 single base substitution A T upstream_gene_variant MALY-DE 2 247701 247701 single base substitution G T downstream_gene_variant MALY-DE 2 247701 247701 single base substitution G T intron_variant MALY-DE 2 247701 247701 single base substitution G T upstream_gene_variant MALY-DE 2 252806 252806 single base substitution A G downstream_gene_variant MALY-DE 2 252806 252806 single base substitution A G intron_variant MALY-DE 2 252806 252806 single base substitution A G upstream_gene_variant MALY-DE 2 253064 253064 single base substitution T G 5_prime_UTR_variant MALY-DE 2 253064 253064 single base substitution T G downstream_gene_variant MALY-DE 2 253064 253064 single base substitution T G exon_variant MALY-DE 2 253064 253064 single base substitution T G missense_variant K17T 50A>C MALY-DE 2 253064 253064 single base substitution T G missense_variant K18T 53A>C MALY-DE 2 253064 253064 single base substitution T G upstream_gene_variant MALY-DE 2 255481 255481 single base substitution T C downstream_gene_variant MALY-DE 2 255481 255481 single base substitution T C intron_variant MALY-DE 2 255481 255481 single base substitution T C upstream_gene_variant MALY-DE 2 256395 256395 insertion of <=200bp - A 5_prime_UTR_variant MALY-DE 2 256395 256395 insertion of <=200bp - A downstream_gene_variant MALY-DE 2 256395 256395 insertion of <=200bp - A intron_variant MALY-DE 2 256395 256395 insertion of <=200bp - A upstream_gene_variant MALY-DE 2 257595 257595 single base substitution C G downstream_gene_variant MALY-DE 2 257595 257595 single base substitution C G intron_variant MALY-DE 2 257595 257595 single base substitution C G upstream_gene_variant MALY-DE 2 261820 261820 single base substitution C T intron_variant MALY-DE 2 261820 261820 single base substitution C T upstream_gene_variant MALY-DE 2 268942 268942 single base substitution A C upstream_gene_variant MELA-AU 2 212784 212784 single base substitution C T downstream_gene_variant MELA-AU 2 212951 212951 single base substitution C T downstream_gene_variant MELA-AU 2 213223 213223 single base substitution G A downstream_gene_variant MELA-AU 2 213254 213254 single base substitution G A downstream_gene_variant MELA-AU 2 213432 213432 single base substitution G A downstream_gene_variant MELA-AU 2 213532 213532 single base substitution C T downstream_gene_variant MELA-AU 2 213539 213539 single base substitution T A downstream_gene_variant MELA-AU 2 213545 213545 single base substitution T A downstream_gene_variant MELA-AU 2 213664 213664 single base substitution C T downstream_gene_variant MELA-AU 2 213728 213728 single base substitution C T downstream_gene_variant MELA-AU 2 213746 213746 single base substitution C T downstream_gene_variant MELA-AU 2 213787 213787 single base substitution C T downstream_gene_variant MELA-AU 2 213906 213906 single base substitution C T downstream_gene_variant MELA-AU 2 213921 213921 single base substitution G A downstream_gene_variant MELA-AU 2 214082 214082 single base substitution T C downstream_gene_variant MELA-AU 2 214193 214193 single base substitution C T downstream_gene_variant MELA-AU 2 214686 214686 single base substitution C T downstream_gene_variant MELA-AU 2 214724 214724 single base substitution G A downstream_gene_variant MELA-AU 2 215083 215083 single base substitution G A downstream_gene_variant MELA-AU 2 215156 215156 single base substitution C T downstream_gene_variant MELA-AU 2 215232 215232 single base substitution G A downstream_gene_variant MELA-AU 2 215450 215450 single base substitution C T downstream_gene_variant MELA-AU 2 216243 216243 single base substitution C T downstream_gene_variant MELA-AU 2 216409 216409 single base substitution G A downstream_gene_variant MELA-AU 2 217137 217137 single base substitution C T downstream_gene_variant MELA-AU 2 217489 217489 single base substitution G A downstream_gene_variant MELA-AU 2 217822 217822 single base substitution A C downstream_gene_variant MELA-AU 2 217822 217822 single base substitution A C exon_variant MELA-AU 2 217837 217837 single base substitution G A downstream_gene_variant MELA-AU 2 217837 217837 single base substitution G A exon_variant MELA-AU 2 217837 217837 single base substitution G C downstream_gene_variant MELA-AU 2 217837 217837 single base substitution G C exon_variant MELA-AU 2 217871 217871 single base substitution G A downstream_gene_variant MELA-AU 2 217871 217871 single base substitution G A exon_variant MELA-AU 2 217936 217936 single base substitution G A downstream_gene_variant MELA-AU 2 217936 217936 single base substitution G A exon_variant MELA-AU 2 218125 218125 single base substitution G A downstream_gene_variant MELA-AU 2 218125 218125 single base substitution G A intron_variant MELA-AU 2 218451 218451 single base substitution G A 3_prime_UTR_variant MELA-AU 2 218451 218451 single base substitution G A downstream_gene_variant MELA-AU 2 218451 218451 single base substitution G A exon_variant MELA-AU 2 218451 218451 single base substitution G A intron_variant MELA-AU 2 218694 218694 single base substitution G A 3_prime_UTR_variant MELA-AU 2 218694 218694 single base substitution G A downstream_gene_variant MELA-AU 2 218694 218694 single base substitution G A exon_variant MELA-AU 2 218694 218694 single base substitution G A intron_variant MELA-AU 2 218730 218730 single base substitution T A 3_prime_UTR_variant MELA-AU 2 218730 218730 single base substitution T A downstream_gene_variant MELA-AU 2 218730 218730 single base substitution T A exon_variant MELA-AU 2 218730 218730 single base substitution T A intron_variant MELA-AU 2 218732 218732 single base substitution A T 3_prime_UTR_variant MELA-AU 2 218732 218732 single base substitution A T downstream_gene_variant MELA-AU 2 218732 218732 single base substitution A T exon_variant MELA-AU 2 218732 218732 single base substitution A T intron_variant MELA-AU 2 219191 219191 single base substitution A C downstream_gene_variant MELA-AU 2 219191 219191 single base substitution A C intron_variant MELA-AU 2 219191 219191 single base substitution A C upstream_gene_variant MELA-AU 2 219661 219661 single base substitution G A downstream_gene_variant MELA-AU 2 219661 219661 single base substitution G A intron_variant MELA-AU 2 219661 219661 single base substitution G A upstream_gene_variant MELA-AU 2 220193 220193 single base substitution A T downstream_gene_variant MELA-AU 2 220193 220193 single base substitution A T intron_variant MELA-AU 2 220193 220193 single base substitution A T upstream_gene_variant MELA-AU 2 220383 220383 single base substitution G A downstream_gene_variant MELA-AU 2 220383 220383 single base substitution G A intron_variant MELA-AU 2 220383 220383 single base substitution G A upstream_gene_variant MELA-AU 2 220476 220476 single base substitution G A downstream_gene_variant MELA-AU 2 220476 220476 single base substitution G A intron_variant MELA-AU 2 220476 220476 single base substitution G A upstream_gene_variant MELA-AU 2 220482 220482 single base substitution G A downstream_gene_variant MELA-AU 2 220482 220482 single base substitution G A intron_variant MELA-AU 2 220482 220482 single base substitution G A upstream_gene_variant MELA-AU 2 220848 220848 single base substitution G A downstream_gene_variant MELA-AU 2 220848 220848 single base substitution G A intron_variant MELA-AU 2 220848 220848 single base substitution G A upstream_gene_variant MELA-AU 2 220966 220966 single base substitution A T downstream_gene_variant MELA-AU 2 220966 220966 single base substitution A T intron_variant MELA-AU 2 220966 220966 single base substitution A T upstream_gene_variant MELA-AU 2 220969 220969 single base substitution A G downstream_gene_variant MELA-AU 2 220969 220969 single base substitution A G intron_variant MELA-AU 2 220969 220969 single base substitution A G upstream_gene_variant MELA-AU 2 220974 220974 single base substitution G A downstream_gene_variant MELA-AU 2 220974 220974 single base substitution G A intron_variant MELA-AU 2 220974 220974 single base substitution G A upstream_gene_variant MELA-AU 2 221009 221009 single base substitution G A downstream_gene_variant MELA-AU 2 221009 221009 single base substitution G A intron_variant MELA-AU 2 221009 221009 single base substitution G A upstream_gene_variant MELA-AU 2 221185 221185 single base substitution C T downstream_gene_variant MELA-AU 2 221185 221185 single base substitution C T intron_variant MELA-AU 2 221185 221185 single base substitution C T upstream_gene_variant MELA-AU 2 221187 221187 single base substitution A C downstream_gene_variant MELA-AU 2 221187 221187 single base substitution A C intron_variant MELA-AU 2 221187 221187 single base substitution A C upstream_gene_variant MELA-AU 2 221635 221635 single base substitution G A downstream_gene_variant MELA-AU 2 221635 221635 single base substitution G A intron_variant MELA-AU 2 221635 221635 single base substitution G A upstream_gene_variant MELA-AU 2 222560 222560 single base substitution G A exon_variant MELA-AU 2 222560 222560 single base substitution G A intron_variant MELA-AU 2 222560 222560 single base substitution G A upstream_gene_variant MELA-AU 2 222922 222922 single base substitution G A exon_variant MELA-AU 2 222922 222922 single base substitution G A intron_variant MELA-AU 2 222922 222922 single base substitution G A upstream_gene_variant MELA-AU 2 223558 223558 single base substitution C G intron_variant MELA-AU 2 223558 223558 single base substitution C G upstream_gene_variant MELA-AU 2 223644 223644 single base substitution G A intron_variant MELA-AU 2 223644 223644 single base substitution G A upstream_gene_variant MELA-AU 2 223866 223866 single base substitution G A intron_variant MELA-AU 2 223866 223866 single base substitution G A upstream_gene_variant MELA-AU 2 223913 223913 single base substitution G A intron_variant MELA-AU 2 224804 224804 single base substitution G A intron_variant MELA-AU 2 225190 225190 single base substitution C T downstream_gene_variant MELA-AU 2 225190 225190 single base substitution C T intron_variant MELA-AU 2 226031 226031 single base substitution G A downstream_gene_variant MELA-AU 2 226031 226031 single base substitution G A intron_variant MELA-AU 2 226232 226232 single base substitution G A downstream_gene_variant MELA-AU 2 226232 226232 single base substitution G A intron_variant MELA-AU 2 226253 226253 single base substitution G A downstream_gene_variant MELA-AU 2 226253 226253 single base substitution G A intron_variant MELA-AU 2 226605 226605 single base substitution G A downstream_gene_variant MELA-AU 2 226605 226605 single base substitution G A intron_variant MELA-AU 2 226612 226612 single base substitution G A downstream_gene_variant MELA-AU 2 226612 226612 single base substitution G A intron_variant MELA-AU 2 227068 227068 single base substitution G A downstream_gene_variant MELA-AU 2 227068 227068 single base substitution G A intron_variant MELA-AU 2 227085 227085 single base substitution G A downstream_gene_variant MELA-AU 2 227085 227085 single base substitution G A intron_variant MELA-AU 2 227144 227144 single base substitution G A downstream_gene_variant MELA-AU 2 227144 227144 single base substitution G A intron_variant MELA-AU 2 227207 227207 single base substitution G A downstream_gene_variant MELA-AU 2 227207 227207 single base substitution G A intron_variant MELA-AU 2 227226 227226 single base substitution C T downstream_gene_variant MELA-AU 2 227226 227226 single base substitution C T intron_variant MELA-AU 2 227616 227616 single base substitution G A downstream_gene_variant MELA-AU 2 227616 227616 single base substitution G A intron_variant MELA-AU 2 227695 227695 single base substitution G A downstream_gene_variant MELA-AU 2 227695 227695 single base substitution G A intron_variant MELA-AU 2 227742 227742 single base substitution G A downstream_gene_variant MELA-AU 2 227742 227742 single base substitution G A intron_variant MELA-AU 2 227824 227824 single base substitution G A downstream_gene_variant MELA-AU 2 227824 227824 single base substitution G A intron_variant MELA-AU 2 227914 227914 single base substitution G A downstream_gene_variant MELA-AU 2 227914 227914 single base substitution G A intron_variant MELA-AU 2 228116 228116 single base substitution G A downstream_gene_variant MELA-AU 2 228116 228116 single base substitution G A intron_variant MELA-AU 2 228241 228241 single base substitution G A downstream_gene_variant MELA-AU 2 228241 228241 single base substitution G A intron_variant MELA-AU 2 228410 228410 single base substitution G A downstream_gene_variant MELA-AU 2 228410 228410 single base substitution G A intron_variant MELA-AU 2 228716 228716 single base substitution G A downstream_gene_variant MELA-AU 2 228716 228716 single base substitution G A intron_variant MELA-AU 2 228839 228839 single base substitution G A downstream_gene_variant MELA-AU 2 228839 228839 single base substitution G A intron_variant MELA-AU 2 228969 228969 single base substitution T G downstream_gene_variant MELA-AU 2 228969 228969 single base substitution T G intron_variant MELA-AU 2 229238 229238 single base substitution A C downstream_gene_variant MELA-AU 2 229238 229238 single base substitution A C intron_variant MELA-AU 2 229927 229927 single base substitution T C downstream_gene_variant MELA-AU 2 229927 229927 single base substitution T C intron_variant MELA-AU 2 229927 229927 single base substitution T C missense_variant K230E 688A>G MELA-AU 2 229987 229987 single base substitution G A 3_prime_UTR_variant MELA-AU 2 229987 229987 single base substitution G A downstream_gene_variant MELA-AU 2 229987 229987 single base substitution G A exon_variant MELA-AU 2 229987 229987 single base substitution G A stop_gained Q158* 472C>T MELA-AU 2 229987 229987 single base substitution G A stop_gained Q186* 556C>T MELA-AU 2 229987 229987 single base substitution G A stop_gained Q210* 628C>T MELA-AU 2 229987 229987 single base substitution G A stop_gained Q254* 760C>T MELA-AU 2 230992 230992 single base substitution A T downstream_gene_variant MELA-AU 2 230992 230992 single base substitution A T exon_variant MELA-AU 2 230992 230992 single base substitution A T intron_variant MELA-AU 2 230992 230992 single base substitution A T missense_variant F91I 271T>A MELA-AU 2 232844 232844 single base substitution T C downstream_gene_variant MELA-AU 2 232844 232844 single base substitution T C intron_variant MELA-AU 2 232844 232844 single base substitution T C upstream_gene_variant MELA-AU 2 233318 233318 single base substitution G A intron_variant MELA-AU 2 233318 233318 single base substitution G A upstream_gene_variant MELA-AU 2 234433 234433 single base substitution G A intron_variant MELA-AU 2 234433 234433 single base substitution G A upstream_gene_variant MELA-AU 2 235191 235191 single base substitution T C downstream_gene_variant MELA-AU 2 235191 235191 single base substitution T C intron_variant MELA-AU 2 235191 235191 single base substitution T C upstream_gene_variant MELA-AU 2 236275 236275 single base substitution G A downstream_gene_variant MELA-AU 2 236275 236275 single base substitution G A intron_variant MELA-AU 2 236275 236275 single base substitution G A upstream_gene_variant MELA-AU 2 237021 237021 single base substitution G A downstream_gene_variant MELA-AU 2 237021 237021 single base substitution G A intron_variant MELA-AU 2 237021 237021 single base substitution G A upstream_gene_variant MELA-AU 2 237188 237188 single base substitution G A downstream_gene_variant MELA-AU 2 237188 237188 single base substitution G A intron_variant MELA-AU 2 237188 237188 single base substitution G A upstream_gene_variant MELA-AU 2 237263 237263 single base substitution G A downstream_gene_variant MELA-AU 2 237263 237263 single base substitution G A intron_variant MELA-AU 2 237263 237263 single base substitution G A upstream_gene_variant MELA-AU 2 237290 237290 single base substitution G A downstream_gene_variant MELA-AU 2 237290 237290 single base substitution G A intron_variant MELA-AU 2 237290 237290 single base substitution G A upstream_gene_variant MELA-AU 2 237420 237420 single base substitution G A downstream_gene_variant MELA-AU 2 237420 237420 single base substitution G A intron_variant MELA-AU 2 237420 237420 single base substitution G A upstream_gene_variant MELA-AU 2 237475 237475 single base substitution G A downstream_gene_variant MELA-AU 2 237475 237475 single base substitution G A intron_variant MELA-AU 2 237475 237475 single base substitution G A upstream_gene_variant MELA-AU 2 238078 238078 single base substitution C T downstream_gene_variant MELA-AU 2 238078 238078 single base substitution C T intron_variant MELA-AU 2 238078 238078 single base substitution C T upstream_gene_variant MELA-AU 2 238520 238520 single base substitution G A downstream_gene_variant MELA-AU 2 238520 238520 single base substitution G A intron_variant MELA-AU 2 238520 238520 single base substitution G A upstream_gene_variant MELA-AU 2 238833 238833 deletion of <=200bp C - downstream_gene_variant MELA-AU 2 238833 238833 deletion of <=200bp C - intron_variant MELA-AU 2 238833 238833 deletion of <=200bp C - upstream_gene_variant MELA-AU 2 238983 238983 single base substitution C T downstream_gene_variant MELA-AU 2 238983 238983 single base substitution C T intron_variant MELA-AU 2 238983 238983 single base substitution C T upstream_gene_variant MELA-AU 2 239164 239164 single base substitution C T downstream_gene_variant MELA-AU 2 239164 239164 single base substitution C T intron_variant MELA-AU 2 239164 239164 single base substitution C T upstream_gene_variant MELA-AU 2 239237 239237 single base substitution G A downstream_gene_variant MELA-AU 2 239237 239237 single base substitution G A intron_variant MELA-AU 2 239489 239489 single base substitution G A downstream_gene_variant MELA-AU 2 239489 239489 single base substitution G A intron_variant MELA-AU 2 239541 239541 single base substitution G A downstream_gene_variant MELA-AU 2 239541 239541 single base substitution G A intron_variant MELA-AU 2 239625 239625 single base substitution T C 3_prime_UTR_variant MELA-AU 2 239625 239625 single base substitution T C intron_variant MELA-AU 2 240069 240069 single base substitution G A 3_prime_UTR_variant MELA-AU 2 240069 240069 single base substitution G A intron_variant MELA-AU 2 240327 240327 single base substitution G A 3_prime_UTR_variant MELA-AU 2 240327 240327 single base substitution G A intron_variant MELA-AU 2 240712 240712 single base substitution A C 3_prime_UTR_variant MELA-AU 2 240712 240712 single base substitution A C intron_variant MELA-AU 2 241041 241041 single base substitution G A 3_prime_UTR_variant MELA-AU 2 241041 241041 single base substitution G A intron_variant MELA-AU 2 241329 241329 single base substitution G A 3_prime_UTR_variant MELA-AU 2 241329 241329 single base substitution G A intron_variant MELA-AU 2 241628 241628 single base substitution G A 3_prime_UTR_variant MELA-AU 2 241628 241628 single base substitution G A intron_variant MELA-AU 2 241841 241841 single base substitution A T 3_prime_UTR_variant MELA-AU 2 241841 241841 single base substitution A T intron_variant MELA-AU 2 241936 241936 single base substitution G A 3_prime_UTR_variant MELA-AU 2 241936 241936 single base substitution G A intron_variant MELA-AU 2 242386 242386 single base substitution G A intron_variant MELA-AU 2 242818 242818 single base substitution G A 5_prime_UTR_variant MELA-AU 2 242818 242818 single base substitution G A intron_variant MELA-AU 2 242818 242818 single base substitution G A upstream_gene_variant MELA-AU 2 242900 242900 single base substitution T C intron_variant MELA-AU 2 242900 242900 single base substitution T C upstream_gene_variant MELA-AU 2 243049 243049 single base substitution G A intron_variant MELA-AU 2 243049 243049 single base substitution G A upstream_gene_variant MELA-AU 2 243350 243350 single base substitution G A intron_variant MELA-AU 2 243350 243350 single base substitution G A upstream_gene_variant MELA-AU 2 244126 244126 single base substitution G A intron_variant MELA-AU 2 244126 244126 single base substitution G A upstream_gene_variant MELA-AU 2 244140 244140 single base substitution G A intron_variant MELA-AU 2 244140 244140 single base substitution G A upstream_gene_variant MELA-AU 2 244292 244292 single base substitution C T intron_variant MELA-AU 2 244292 244292 single base substitution C T upstream_gene_variant MELA-AU 2 244512 244512 single base substitution G A intron_variant MELA-AU 2 244512 244512 single base substitution G A upstream_gene_variant MELA-AU 2 244568 244568 single base substitution A G intron_variant MELA-AU 2 244568 244568 single base substitution A G upstream_gene_variant MELA-AU 2 245092 245092 single base substitution G A downstream_gene_variant MELA-AU 2 245092 245092 single base substitution G A intron_variant MELA-AU 2 245092 245092 single base substitution G A upstream_gene_variant MELA-AU 2 245421 245421 single base substitution A G downstream_gene_variant MELA-AU 2 245421 245421 single base substitution A G intron_variant MELA-AU 2 245421 245421 single base substitution A G upstream_gene_variant MELA-AU 2 245860 245860 single base substitution C T downstream_gene_variant MELA-AU 2 245860 245860 single base substitution C T intron_variant MELA-AU 2 245860 245860 single base substitution C T upstream_gene_variant MELA-AU 2 245870 245870 single base substitution A G downstream_gene_variant MELA-AU 2 245870 245870 single base substitution A G intron_variant MELA-AU 2 245870 245870 single base substitution A G upstream_gene_variant MELA-AU 2 246020 246020 single base substitution A G downstream_gene_variant MELA-AU 2 246020 246020 single base substitution A G intron_variant MELA-AU 2 246020 246020 single base substitution A G upstream_gene_variant MELA-AU 2 246209 246209 single base substitution G A downstream_gene_variant MELA-AU 2 246209 246209 single base substitution G A intron_variant MELA-AU 2 246209 246209 single base substitution G A upstream_gene_variant MELA-AU 2 246478 246478 single base substitution G A downstream_gene_variant MELA-AU 2 246478 246478 single base substitution G A intron_variant MELA-AU 2 246478 246478 single base substitution G A upstream_gene_variant MELA-AU 2 246639 246639 single base substitution G A downstream_gene_variant MELA-AU 2 246639 246639 single base substitution G A intron_variant MELA-AU 2 246639 246639 single base substitution G A upstream_gene_variant MELA-AU 2 246851 246851 single base substitution G A downstream_gene_variant MELA-AU 2 246851 246851 single base substitution G A intron_variant MELA-AU 2 246851 246851 single base substitution G A upstream_gene_variant MELA-AU 2 247112 247112 single base substitution A G downstream_gene_variant MELA-AU 2 247112 247112 single base substitution A G intron_variant MELA-AU 2 247112 247112 single base substitution A G upstream_gene_variant MELA-AU 2 247169 247169 single base substitution G A downstream_gene_variant MELA-AU 2 247169 247169 single base substitution G A intron_variant MELA-AU 2 247169 247169 single base substitution G A upstream_gene_variant MELA-AU 2 247319 247319 single base substitution G A downstream_gene_variant MELA-AU 2 247319 247319 single base substitution G A intron_variant MELA-AU 2 247319 247319 single base substitution G A upstream_gene_variant MELA-AU 2 248065 248065 single base substitution G A downstream_gene_variant MELA-AU 2 248065 248065 single base substitution G A intron_variant MELA-AU 2 248125 248125 single base substitution G A downstream_gene_variant MELA-AU 2 248125 248125 single base substitution G A intron_variant MELA-AU 2 248311 248311 single base substitution G A downstream_gene_variant MELA-AU 2 248311 248311 single base substitution G A intron_variant MELA-AU 2 248479 248479 single base substitution G A downstream_gene_variant MELA-AU 2 248479 248479 single base substitution G A intron_variant MELA-AU 2 248572 248572 single base substitution G T downstream_gene_variant MELA-AU 2 248572 248572 single base substitution G T intron_variant MELA-AU 2 248686 248686 single base substitution G A downstream_gene_variant MELA-AU 2 248686 248686 single base substitution G A intron_variant MELA-AU 2 249465 249465 single base substitution G A downstream_gene_variant MELA-AU 2 249465 249465 single base substitution G A intron_variant MELA-AU 2 249942 249942 single base substitution C T intron_variant MELA-AU 2 249942 249942 single base substitution C T upstream_gene_variant MELA-AU 2 250555 250555 single base substitution G A intron_variant MELA-AU 2 250555 250555 single base substitution G A upstream_gene_variant MELA-AU 2 251640 251641 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 251640 251641 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 251640 251641 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 251759 251759 single base substitution C T downstream_gene_variant MELA-AU 2 251759 251759 single base substitution C T intron_variant MELA-AU 2 251759 251759 single base substitution C T upstream_gene_variant MELA-AU 2 252017 252017 single base substitution G A downstream_gene_variant MELA-AU 2 252017 252017 single base substitution G A intron_variant MELA-AU 2 252017 252017 single base substitution G A upstream_gene_variant MELA-AU 2 252160 252160 single base substitution G A downstream_gene_variant MELA-AU 2 252160 252160 single base substitution G A intron_variant MELA-AU 2 252160 252160 single base substitution G A upstream_gene_variant MELA-AU 2 252290 252290 single base substitution G A downstream_gene_variant MELA-AU 2 252290 252290 single base substitution G A intron_variant MELA-AU 2 252290 252290 single base substitution G A upstream_gene_variant MELA-AU 2 252294 252294 single base substitution G A downstream_gene_variant MELA-AU 2 252294 252294 single base substitution G A intron_variant MELA-AU 2 252294 252294 single base substitution G A upstream_gene_variant MELA-AU 2 252451 252451 single base substitution G A downstream_gene_variant MELA-AU 2 252451 252451 single base substitution G A intron_variant MELA-AU 2 252451 252451 single base substitution G A upstream_gene_variant MELA-AU 2 253611 253611 single base substitution G A downstream_gene_variant MELA-AU 2 253611 253611 single base substitution G A intron_variant MELA-AU 2 253611 253611 single base substitution G A upstream_gene_variant MELA-AU 2 253799 253799 single base substitution G A downstream_gene_variant MELA-AU 2 253799 253799 single base substitution G A intron_variant MELA-AU 2 253799 253799 single base substitution G A upstream_gene_variant MELA-AU 2 255986 255986 single base substitution G A downstream_gene_variant MELA-AU 2 255986 255986 single base substitution G A exon_variant MELA-AU 2 255986 255986 single base substitution G A intron_variant MELA-AU 2 255986 255986 single base substitution G A upstream_gene_variant MELA-AU 2 256200 256200 single base substitution T A downstream_gene_variant MELA-AU 2 256200 256200 single base substitution T A exon_variant MELA-AU 2 256200 256200 single base substitution T A intron_variant MELA-AU 2 256200 256200 single base substitution T A splice_region_variant MELA-AU 2 256200 256200 single base substitution T A upstream_gene_variant MELA-AU 2 256612 256612 single base substitution G A 5_prime_UTR_variant MELA-AU 2 256612 256612 single base substitution G A downstream_gene_variant MELA-AU 2 256612 256612 single base substitution G A intron_variant MELA-AU 2 256612 256612 single base substitution G A upstream_gene_variant MELA-AU 2 257404 257404 single base substitution G A downstream_gene_variant MELA-AU 2 257404 257404 single base substitution G A intron_variant MELA-AU 2 257404 257404 single base substitution G A upstream_gene_variant MELA-AU 2 258768 258768 single base substitution G A downstream_gene_variant MELA-AU 2 258768 258768 single base substitution G A intron_variant MELA-AU 2 258768 258768 single base substitution G A upstream_gene_variant MELA-AU 2 258942 258942 single base substitution C T downstream_gene_variant MELA-AU 2 258942 258942 single base substitution C T intron_variant MELA-AU 2 258942 258942 single base substitution C T upstream_gene_variant MELA-AU 2 259412 259412 single base substitution C T downstream_gene_variant MELA-AU 2 259412 259412 single base substitution C T intron_variant MELA-AU 2 259412 259412 single base substitution C T upstream_gene_variant MELA-AU 2 259493 259493 single base substitution G A downstream_gene_variant MELA-AU 2 259493 259493 single base substitution G A exon_variant MELA-AU 2 259493 259493 single base substitution G A intron_variant MELA-AU 2 259493 259493 single base substitution G A upstream_gene_variant MELA-AU 2 259558 259558 single base substitution G A downstream_gene_variant MELA-AU 2 259558 259558 single base substitution G A exon_variant MELA-AU 2 259558 259558 single base substitution G A intron_variant MELA-AU 2 259558 259558 single base substitution G A upstream_gene_variant MELA-AU 2 259980 259980 single base substitution G A downstream_gene_variant MELA-AU 2 259980 259980 single base substitution G A exon_variant MELA-AU 2 259980 259980 single base substitution G A intron_variant MELA-AU 2 259980 259980 single base substitution G A upstream_gene_variant MELA-AU 2 260550 260550 single base substitution G A 5_prime_UTR_variant MELA-AU 2 260550 260550 single base substitution G A downstream_gene_variant MELA-AU 2 260550 260550 single base substitution G A exon_variant MELA-AU 2 260550 260550 single base substitution G A intron_variant MELA-AU 2 260550 260550 single base substitution G A upstream_gene_variant MELA-AU 2 260674 260674 single base substitution T C 5_prime_UTR_variant MELA-AU 2 260674 260674 single base substitution T C downstream_gene_variant MELA-AU 2 260674 260674 single base substitution T C exon_variant MELA-AU 2 260674 260674 single base substitution T C intron_variant MELA-AU 2 260674 260674 single base substitution T C upstream_gene_variant MELA-AU 2 260785 260785 single base substitution G A 5_prime_UTR_variant MELA-AU 2 260785 260785 single base substitution G A downstream_gene_variant MELA-AU 2 260785 260785 single base substitution G A exon_variant MELA-AU 2 260785 260785 single base substitution G A intron_variant MELA-AU 2 260785 260785 single base substitution G A upstream_gene_variant MELA-AU 2 261381 261381 single base substitution C T intron_variant MELA-AU 2 261381 261381 single base substitution C T upstream_gene_variant MELA-AU 2 261868 261868 single base substitution G A intron_variant MELA-AU 2 261868 261868 single base substitution G A upstream_gene_variant MELA-AU 2 263033 263034 multiple base substitution (>=2bp and <=200bp) AA GC intron_variant MELA-AU 2 263033 263034 multiple base substitution (>=2bp and <=200bp) AA GC upstream_gene_variant MELA-AU 2 263271 263271 single base substitution G A 5_prime_UTR_variant MELA-AU 2 263271 263271 single base substitution G A exon_variant MELA-AU 2 263271 263271 single base substitution G A intron_variant MELA-AU 2 263271 263271 single base substitution G A upstream_gene_variant MELA-AU 2 265973 265973 single base substitution A T intron_variant MELA-AU 2 265973 265973 single base substitution A T upstream_gene_variant MELA-AU 2 266728 266728 single base substitution C T upstream_gene_variant MELA-AU 2 267250 267255 deletion of <=200bp TACTAT - upstream_gene_variant MELA-AU 2 267583 267583 single base substitution A T upstream_gene_variant MELA-AU 2 267750 267750 single base substitution C T upstream_gene_variant MELA-AU 2 269285 269285 single base substitution C T upstream_gene_variant MELA-AU 2 269937 269937 single base substitution T C upstream_gene_variant MELA-AU 2 270308 270308 single base substitution T C upstream_gene_variant MELA-AU 2 270587 270587 single base substitution C T upstream_gene_variant MELA-AU 2 271137 271137 single base substitution C T upstream_gene_variant ORCA-IN 2 220188 220188 single base substitution C T downstream_gene_variant ORCA-IN 2 220188 220188 single base substitution C T intron_variant ORCA-IN 2 220188 220188 single base substitution C T upstream_gene_variant ORCA-IN 2 240034 240034 single base substitution C T 3_prime_UTR_variant ORCA-IN 2 240034 240034 single base substitution C T intron_variant ORCA-IN 2 240851 240851 single base substitution G T 3_prime_UTR_variant ORCA-IN 2 240851 240851 single base substitution G T intron_variant ORCA-IN 2 258239 258239 single base substitution C G downstream_gene_variant ORCA-IN 2 258239 258239 single base substitution C G intron_variant ORCA-IN 2 258239 258239 single base substitution C G upstream_gene_variant ORCA-IN 2 260978 260978 single base substitution G C 5_prime_UTR_variant ORCA-IN 2 260978 260978 single base substitution G C exon_variant ORCA-IN 2 260978 260978 single base substitution G C intron_variant ORCA-IN 2 260978 260978 single base substitution G C upstream_gene_variant OV-AU 2 223559 223559 single base substitution T A intron_variant OV-AU 2 223559 223559 single base substitution T A upstream_gene_variant OV-AU 2 223768 223768 single base substitution C G intron_variant OV-AU 2 223768 223768 single base substitution C G upstream_gene_variant OV-AU 2 231172 231172 single base substitution G C downstream_gene_variant OV-AU 2 231172 231172 single base substitution G C exon_variant OV-AU 2 231172 231172 single base substitution G C missense_variant R117G 349C>G OV-AU 2 231172 231172 single base substitution G C missense_variant R141G 421C>G OV-AU 2 231172 231172 single base substitution G C missense_variant R185G 553C>G OV-AU 2 231172 231172 single base substitution G C missense_variant R31G 91C>G OV-AU 2 231172 231172 single base substitution G C missense_variant R89G 265C>G OV-AU 2 231172 231172 single base substitution G C upstream_gene_variant OV-AU 2 237037 237037 single base substitution C T downstream_gene_variant OV-AU 2 237037 237037 single base substitution C T intron_variant OV-AU 2 237037 237037 single base substitution C T upstream_gene_variant OV-AU 2 241542 241542 single base substitution C A 3_prime_UTR_variant OV-AU 2 241542 241542 single base substitution C A intron_variant OV-AU 2 245876 245876 single base substitution T A downstream_gene_variant OV-AU 2 245876 245876 single base substitution T A intron_variant OV-AU 2 245876 245876 single base substitution T A upstream_gene_variant OV-AU 2 247598 247598 single base substitution C A 5_prime_UTR_variant OV-AU 2 247598 247598 single base substitution C A downstream_gene_variant OV-AU 2 247598 247598 single base substitution C A exon_variant OV-AU 2 247598 247598 single base substitution C A missense_variant W52C 156G>T OV-AU 2 247598 247598 single base substitution C A missense_variant W76C 228G>T OV-AU 2 247598 247598 single base substitution C A missense_variant W77C 231G>T OV-AU 2 247598 247598 single base substitution C A upstream_gene_variant OV-AU 2 251449 251449 single base substitution G A downstream_gene_variant OV-AU 2 251449 251449 single base substitution G A intron_variant OV-AU 2 251449 251449 single base substitution G A upstream_gene_variant OV-AU 2 256680 256680 single base substitution C T 5_prime_UTR_variant OV-AU 2 256680 256680 single base substitution C T downstream_gene_variant OV-AU 2 256680 256680 single base substitution C T intron_variant OV-AU 2 256680 256680 single base substitution C T upstream_gene_variant OV-AU 2 257758 257758 single base substitution C A downstream_gene_variant OV-AU 2 257758 257758 single base substitution C A intron_variant OV-AU 2 257758 257758 single base substitution C A upstream_gene_variant OV-AU 2 263408 263408 single base substitution G A exon_variant OV-AU 2 263408 263408 single base substitution G A intron_variant OV-AU 2 263408 263408 single base substitution G A upstream_gene_variant OV-US 2 231084 231084 single base substitution T C downstream_gene_variant OV-US 2 231084 231084 single base substitution T C exon_variant OV-US 2 231084 231084 single base substitution T C missense_variant Y118C 353A>G OV-US 2 231084 231084 single base substitution T C missense_variant Y146C 437A>G OV-US 2 231084 231084 single base substitution T C missense_variant Y170C 509A>G OV-US 2 231084 231084 single base substitution T C missense_variant Y214C 641A>G OV-US 2 231084 231084 single base substitution T C missense_variant Y60C 179A>G PACA-AU 2 214098 214098 single base substitution G T downstream_gene_variant PACA-AU 2 243269 243269 single base substitution T C intron_variant PACA-AU 2 243269 243269 single base substitution T C upstream_gene_variant PACA-AU 2 245199 245199 single base substitution C T downstream_gene_variant PACA-AU 2 245199 245199 single base substitution C T intron_variant PACA-AU 2 245199 245199 single base substitution C T upstream_gene_variant PACA-AU 2 245970 245970 single base substitution C T downstream_gene_variant PACA-AU 2 245970 245970 single base substitution C T intron_variant PACA-AU 2 245970 245970 single base substitution C T upstream_gene_variant PACA-AU 2 250118 250118 single base substitution A G intron_variant PACA-AU 2 250118 250118 single base substitution A G upstream_gene_variant PACA-AU 2 257641 257641 single base substitution T A downstream_gene_variant PACA-AU 2 257641 257641 single base substitution T A intron_variant PACA-AU 2 257641 257641 single base substitution T A upstream_gene_variant PACA-AU 2 257821 257821 deletion of <=200bp T - downstream_gene_variant PACA-AU 2 257821 257821 deletion of <=200bp T - intron_variant PACA-AU 2 257821 257821 deletion of <=200bp T - upstream_gene_variant PACA-AU 2 258397 258397 single base substitution T G downstream_gene_variant PACA-AU 2 258397 258397 single base substitution T G intron_variant PACA-AU 2 258397 258397 single base substitution T G upstream_gene_variant PACA-AU 2 263543 263543 deletion of <=200bp G - exon_variant PACA-AU 2 263543 263543 deletion of <=200bp G - intron_variant PACA-AU 2 263543 263543 deletion of <=200bp G - upstream_gene_variant PACA-AU 2 270512 270512 single base substitution A G upstream_gene_variant PACA-CA 2 213888 213888 single base substitution G A downstream_gene_variant PACA-CA 2 214104 214104 single base substitution C T downstream_gene_variant PACA-CA 2 214505 214505 single base substitution C T downstream_gene_variant PACA-CA 2 214553 214553 single base substitution C T downstream_gene_variant PACA-CA 2 216432 216434 deletion of <=200bp TTG - downstream_gene_variant PACA-CA 2 217281 217281 single base substitution T C downstream_gene_variant PACA-CA 2 218463 218463 deletion of <=200bp T - 3_prime_UTR_variant PACA-CA 2 218463 218463 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 218463 218463 deletion of <=200bp T - exon_variant PACA-CA 2 218463 218463 deletion of <=200bp T - intron_variant PACA-CA 2 219591 219591 single base substitution T G downstream_gene_variant PACA-CA 2 219591 219591 single base substitution T G intron_variant PACA-CA 2 219591 219591 single base substitution T G upstream_gene_variant PACA-CA 2 221402 221402 single base substitution G T downstream_gene_variant PACA-CA 2 221402 221402 single base substitution G T intron_variant PACA-CA 2 221402 221402 single base substitution G T upstream_gene_variant PACA-CA 2 224926 224926 deletion of <=200bp A - downstream_gene_variant PACA-CA 2 224926 224926 deletion of <=200bp A - intron_variant PACA-CA 2 224926 224926 deletion of <=200bp A - splice_region_variant PACA-CA 2 226655 226655 single base substitution A T downstream_gene_variant PACA-CA 2 226655 226655 single base substitution A T intron_variant PACA-CA 2 227710 227710 single base substitution C T downstream_gene_variant PACA-CA 2 227710 227710 single base substitution C T intron_variant PACA-CA 2 229131 229131 single base substitution T C downstream_gene_variant PACA-CA 2 229131 229131 single base substitution T C intron_variant PACA-CA 2 229332 229332 single base substitution A T downstream_gene_variant PACA-CA 2 229332 229332 single base substitution A T intron_variant PACA-CA 2 231057 231057 single base substitution G A downstream_gene_variant PACA-CA 2 231057 231057 single base substitution G A exon_variant PACA-CA 2 231057 231057 single base substitution G A missense_variant A127V 380C>T PACA-CA 2 231057 231057 single base substitution G A missense_variant A155V 464C>T PACA-CA 2 231057 231057 single base substitution G A missense_variant A179V 536C>T PACA-CA 2 231057 231057 single base substitution G A missense_variant A223V 668C>T PACA-CA 2 231057 231057 single base substitution G A missense_variant A69V 206C>T PACA-CA 2 231741 231741 single base substitution C T downstream_gene_variant PACA-CA 2 231741 231741 single base substitution C T intron_variant PACA-CA 2 231741 231741 single base substitution C T upstream_gene_variant PACA-CA 2 233151 233151 single base substitution G A downstream_gene_variant PACA-CA 2 233151 233151 single base substitution G A exon_variant PACA-CA 2 233151 233151 single base substitution G A intron_variant PACA-CA 2 233151 233151 single base substitution G A synonymous_variant G161G 483C>T PACA-CA 2 233151 233151 single base substitution G A synonymous_variant G65G 195C>T PACA-CA 2 233151 233151 single base substitution G A upstream_gene_variant PACA-CA 2 233181 233181 single base substitution C T exon_variant PACA-CA 2 233181 233181 single base substitution C T intron_variant PACA-CA 2 233181 233181 single base substitution C T synonymous_variant T151T 453G>A PACA-CA 2 233181 233181 single base substitution C T synonymous_variant T55T 165G>A PACA-CA 2 233181 233181 single base substitution C T upstream_gene_variant PACA-CA 2 233719 233719 single base substitution A G intron_variant PACA-CA 2 233719 233719 single base substitution A G upstream_gene_variant PACA-CA 2 233769 233769 insertion of <=200bp - A intron_variant PACA-CA 2 233769 233769 insertion of <=200bp - A upstream_gene_variant PACA-CA 2 239448 239448 single base substitution C T downstream_gene_variant PACA-CA 2 239448 239448 single base substitution C T intron_variant PACA-CA 2 240824 240824 single base substitution T C 3_prime_UTR_variant PACA-CA 2 240824 240824 single base substitution T C intron_variant PACA-CA 2 249101 249101 deletion of <=200bp A - downstream_gene_variant PACA-CA 2 249101 249101 deletion of <=200bp A - intron_variant PACA-CA 2 257469 257469 single base substitution G A downstream_gene_variant PACA-CA 2 257469 257469 single base substitution G A intron_variant PACA-CA 2 257469 257469 single base substitution G A upstream_gene_variant PACA-CA 2 260208 260208 single base substitution C T 5_prime_UTR_variant PACA-CA 2 260208 260208 single base substitution C T downstream_gene_variant PACA-CA 2 260208 260208 single base substitution C T exon_variant PACA-CA 2 260208 260208 single base substitution C T intron_variant PACA-CA 2 260208 260208 single base substitution C T upstream_gene_variant PACA-CA 2 262562 262562 insertion of <=200bp - T exon_variant PACA-CA 2 262562 262562 insertion of <=200bp - T intron_variant PACA-CA 2 262562 262562 insertion of <=200bp - T upstream_gene_variant PACA-CA 2 262862 262862 single base substitution T A intron_variant PACA-CA 2 262862 262862 single base substitution T A upstream_gene_variant PACA-CA 2 263971 263971 single base substitution C G exon_variant PACA-CA 2 263971 263971 single base substitution C G intron_variant PACA-CA 2 263971 263971 single base substitution C G upstream_gene_variant PACA-CA 2 267344 267344 single base substitution A G upstream_gene_variant PACA-CA 2 269009 269009 single base substitution T A upstream_gene_variant PACA-CA 2 269679 269679 single base substitution C T upstream_gene_variant PACA-CA 2 271080 271080 single base substitution T A upstream_gene_variant PAEN-AU 2 214457 214457 single base substitution C T downstream_gene_variant PAEN-AU 2 224571 224571 single base substitution A C intron_variant PAEN-IT 2 213696 213696 single base substitution T A downstream_gene_variant PAEN-IT 2 224133 224133 single base substitution C T intron_variant PBCA-DE 2 218050 218050 single base substitution G C downstream_gene_variant PBCA-DE 2 218050 218050 single base substitution G C exon_variant PBCA-DE 2 234990 234990 single base substitution G T downstream_gene_variant PBCA-DE 2 234990 234990 single base substitution G T intron_variant PBCA-DE 2 234990 234990 single base substitution G T upstream_gene_variant PBCA-DE 2 235396 235396 insertion of <=200bp - GCA downstream_gene_variant PBCA-DE 2 235396 235396 insertion of <=200bp - GCA intron_variant PBCA-DE 2 235396 235396 insertion of <=200bp - GCA upstream_gene_variant PBCA-DE 2 235415 235415 insertion of <=200bp - GCA downstream_gene_variant PBCA-DE 2 235415 235415 insertion of <=200bp - GCA intron_variant PBCA-DE 2 235415 235415 insertion of <=200bp - GCA upstream_gene_variant PBCA-DE 2 236181 236181 single base substitution C T downstream_gene_variant PBCA-DE 2 236181 236181 single base substitution C T intron_variant PBCA-DE 2 236181 236181 single base substitution C T upstream_gene_variant PBCA-DE 2 238260 238261 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 2 238260 238261 deletion of <=200bp TG - intron_variant PBCA-DE 2 238260 238261 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 2 250431 250431 single base substitution T C intron_variant PBCA-DE 2 250431 250431 single base substitution T C upstream_gene_variant PBCA-DE 2 256538 256538 insertion of <=200bp - A 5_prime_UTR_variant PBCA-DE 2 256538 256538 insertion of <=200bp - A downstream_gene_variant PBCA-DE 2 256538 256538 insertion of <=200bp - A intron_variant PBCA-DE 2 256538 256538 insertion of <=200bp - A upstream_gene_variant PBCA-DE 2 258190 258190 single base substitution G T downstream_gene_variant PBCA-DE 2 258190 258190 single base substitution G T intron_variant PBCA-DE 2 258190 258190 single base substitution G T upstream_gene_variant PRAD-CA 2 212785 212785 single base substitution C T downstream_gene_variant PRAD-CA 2 214510 214510 single base substitution C G downstream_gene_variant PRAD-CA 2 214534 214534 single base substitution C G downstream_gene_variant PRAD-CA 2 214540 214540 single base substitution G A downstream_gene_variant PRAD-CA 2 224542 224542 single base substitution G A intron_variant PRAD-CA 2 259564 259564 single base substitution A C downstream_gene_variant PRAD-CA 2 259564 259564 single base substitution A C exon_variant PRAD-CA 2 259564 259564 single base substitution A C intron_variant PRAD-CA 2 259564 259564 single base substitution A C upstream_gene_variant PRAD-CA 2 268340 268340 single base substitution G T upstream_gene_variant PRAD-UK 2 231704 231704 single base substitution C G downstream_gene_variant PRAD-UK 2 231704 231704 single base substitution C G intron_variant PRAD-UK 2 231704 231704 single base substitution C G upstream_gene_variant PRAD-UK 2 235894 235894 single base substitution T C downstream_gene_variant PRAD-UK 2 235894 235894 single base substitution T C intron_variant PRAD-UK 2 235894 235894 single base substitution T C upstream_gene_variant PRAD-UK 2 252045 252045 single base substitution T C downstream_gene_variant PRAD-UK 2 252045 252045 single base substitution T C intron_variant PRAD-UK 2 252045 252045 single base substitution T C upstream_gene_variant PRAD-UK 2 258221 258221 single base substitution T C downstream_gene_variant PRAD-UK 2 258221 258221 single base substitution T C intron_variant PRAD-UK 2 258221 258221 single base substitution T C upstream_gene_variant READ-US 2 224876 224876 single base substitution G T exon_variant READ-US 2 224876 224876 single base substitution G T intron_variant READ-US 2 224876 224876 single base substitution G T missense_variant H180N 538C>A READ-US 2 224876 224876 single base substitution G T missense_variant H276N 826C>A READ-US 2 231188 231188 single base substitution A C downstream_gene_variant READ-US 2 231188 231188 single base substitution A C exon_variant READ-US 2 231188 231188 single base substitution A C missense_variant F111L 333T>G READ-US 2 231188 231188 single base substitution A C missense_variant F135L 405T>G READ-US 2 231188 231188 single base substitution A C missense_variant F179L 537T>G READ-US 2 231188 231188 single base substitution A C missense_variant F25L 75T>G READ-US 2 231188 231188 single base substitution A C missense_variant F83L 249T>G READ-US 2 231188 231188 single base substitution A C upstream_gene_variant READ-US 2 233164 233164 single base substitution C T downstream_gene_variant READ-US 2 233164 233164 single base substitution C T exon_variant READ-US 2 233164 233164 single base substitution C T intron_variant READ-US 2 233164 233164 single base substitution C T missense_variant G157E 470G>A READ-US 2 233164 233164 single base substitution C T missense_variant G61E 182G>A READ-US 2 233164 233164 single base substitution C T upstream_gene_variant RECA-EU 2 213641 213641 single base substitution A T downstream_gene_variant RECA-EU 2 213815 213815 single base substitution A C downstream_gene_variant RECA-EU 2 221759 221759 single base substitution G A downstream_gene_variant RECA-EU 2 221759 221759 single base substitution G A intron_variant RECA-EU 2 221759 221759 single base substitution G A upstream_gene_variant RECA-EU 2 223147 223147 single base substitution C T intron_variant RECA-EU 2 223147 223147 single base substitution C T upstream_gene_variant RECA-EU 2 230632 230632 single base substitution G A 3_prime_UTR_variant RECA-EU 2 230632 230632 single base substitution G A downstream_gene_variant RECA-EU 2 230632 230632 single base substitution G A exon_variant RECA-EU 2 230632 230632 single base substitution G A intron_variant RECA-EU 2 232925 232925 single base substitution T A downstream_gene_variant RECA-EU 2 232925 232925 single base substitution T A exon_variant RECA-EU 2 232925 232925 single base substitution T A intron_variant RECA-EU 2 232925 232925 single base substitution T A upstream_gene_variant RECA-EU 2 234099 234099 single base substitution T C intron_variant RECA-EU 2 234099 234099 single base substitution T C upstream_gene_variant RECA-EU 2 234623 234623 single base substitution G T downstream_gene_variant RECA-EU 2 234623 234623 single base substitution G T intron_variant RECA-EU 2 234623 234623 single base substitution G T upstream_gene_variant RECA-EU 2 239524 239524 single base substitution T G downstream_gene_variant RECA-EU 2 239524 239524 single base substitution T G intron_variant RECA-EU 2 241020 241020 single base substitution A G 3_prime_UTR_variant RECA-EU 2 241020 241020 single base substitution A G intron_variant RECA-EU 2 248752 248752 single base substitution T G downstream_gene_variant RECA-EU 2 248752 248752 single base substitution T G intron_variant RECA-EU 2 248819 248819 single base substitution A T downstream_gene_variant RECA-EU 2 248819 248819 single base substitution A T intron_variant RECA-EU 2 254479 254479 single base substitution T C downstream_gene_variant RECA-EU 2 254479 254479 single base substitution T C intron_variant RECA-EU 2 254479 254479 single base substitution T C upstream_gene_variant RECA-EU 2 261486 261486 single base substitution A T intron_variant RECA-EU 2 261486 261486 single base substitution A T upstream_gene_variant SKCA-BR 2 212836 212836 single base substitution G A downstream_gene_variant SKCA-BR 2 212964 212964 single base substitution G A downstream_gene_variant SKCA-BR 2 213144 213144 single base substitution C T downstream_gene_variant SKCA-BR 2 213270 213270 single base substitution T G downstream_gene_variant SKCA-BR 2 214481 214481 single base substitution C T downstream_gene_variant SKCA-BR 2 214540 214540 single base substitution G A downstream_gene_variant SKCA-BR 2 214889 214889 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 2 216292 216292 single base substitution G A downstream_gene_variant SKCA-BR 2 220255 220255 single base substitution A G downstream_gene_variant SKCA-BR 2 220255 220255 single base substitution A G intron_variant SKCA-BR 2 220255 220255 single base substitution A G upstream_gene_variant SKCA-BR 2 222632 222632 single base substitution G A exon_variant SKCA-BR 2 222632 222632 single base substitution G A intron_variant SKCA-BR 2 222632 222632 single base substitution G A upstream_gene_variant SKCA-BR 2 224192 224192 single base substitution A C intron_variant SKCA-BR 2 224804 224804 single base substitution G A intron_variant SKCA-BR 2 225345 225345 single base substitution G A downstream_gene_variant SKCA-BR 2 225345 225345 single base substitution G A intron_variant SKCA-BR 2 226020 226020 single base substitution G A downstream_gene_variant SKCA-BR 2 226020 226020 single base substitution G A intron_variant SKCA-BR 2 227100 227100 single base substitution A G downstream_gene_variant SKCA-BR 2 227100 227100 single base substitution A G intron_variant SKCA-BR 2 227130 227130 single base substitution A G downstream_gene_variant SKCA-BR 2 227130 227130 single base substitution A G intron_variant SKCA-BR 2 227747 227747 single base substitution C A downstream_gene_variant SKCA-BR 2 227747 227747 single base substitution C A intron_variant SKCA-BR 2 228217 228217 single base substitution A G downstream_gene_variant SKCA-BR 2 228217 228217 single base substitution A G intron_variant SKCA-BR 2 228845 228845 single base substitution A G downstream_gene_variant SKCA-BR 2 228845 228845 single base substitution A G intron_variant SKCA-BR 2 229390 229390 single base substitution A T downstream_gene_variant SKCA-BR 2 229390 229390 single base substitution A T intron_variant SKCA-BR 2 231086 231086 single base substitution C T downstream_gene_variant SKCA-BR 2 231086 231086 single base substitution C T exon_variant SKCA-BR 2 231086 231086 single base substitution C T synonymous_variant K117K 351G>A SKCA-BR 2 231086 231086 single base substitution C T synonymous_variant K145K 435G>A SKCA-BR 2 231086 231086 single base substitution C T synonymous_variant K169K 507G>A SKCA-BR 2 231086 231086 single base substitution C T synonymous_variant K213K 639G>A SKCA-BR 2 231086 231086 single base substitution C T synonymous_variant K59K 177G>A SKCA-BR 2 232890 232890 single base substitution G A downstream_gene_variant SKCA-BR 2 232890 232890 single base substitution G A intron_variant SKCA-BR 2 232890 232890 single base substitution G A upstream_gene_variant SKCA-BR 2 233147 233147 single base substitution A G downstream_gene_variant SKCA-BR 2 233147 233147 single base substitution A G exon_variant SKCA-BR 2 233147 233147 single base substitution A G intron_variant SKCA-BR 2 233147 233147 single base substitution A G missense_variant S163P 487T>C SKCA-BR 2 233147 233147 single base substitution A G missense_variant S67P 199T>C SKCA-BR 2 233147 233147 single base substitution A G upstream_gene_variant SKCA-BR 2 233433 233433 single base substitution G A intron_variant SKCA-BR 2 233433 233433 single base substitution G A upstream_gene_variant SKCA-BR 2 236950 236950 single base substitution C A downstream_gene_variant SKCA-BR 2 236950 236950 single base substitution C A intron_variant SKCA-BR 2 236950 236950 single base substitution C A upstream_gene_variant SKCA-BR 2 238076 238076 single base substitution A C downstream_gene_variant SKCA-BR 2 238076 238076 single base substitution A C intron_variant SKCA-BR 2 238076 238076 single base substitution A C upstream_gene_variant SKCA-BR 2 239202 239202 single base substitution A G downstream_gene_variant SKCA-BR 2 239202 239202 single base substitution A G intron_variant SKCA-BR 2 239202 239202 single base substitution A G upstream_gene_variant SKCA-BR 2 240682 240682 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 240682 240682 single base substitution G A intron_variant SKCA-BR 2 242387 242387 insertion of <=200bp - AG intron_variant SKCA-BR 2 242497 242497 single base substitution G A intron_variant SKCA-BR 2 246364 246364 single base substitution C T downstream_gene_variant SKCA-BR 2 246364 246364 single base substitution C T intron_variant SKCA-BR 2 246364 246364 single base substitution C T upstream_gene_variant SKCA-BR 2 248890 248890 single base substitution G A downstream_gene_variant SKCA-BR 2 248890 248890 single base substitution G A intron_variant SKCA-BR 2 251055 251055 single base substitution G A downstream_gene_variant SKCA-BR 2 251055 251055 single base substitution G A intron_variant SKCA-BR 2 251055 251055 single base substitution G A upstream_gene_variant SKCA-BR 2 262655 262655 single base substitution G A 5_prime_UTR_variant SKCA-BR 2 262655 262655 single base substitution G A exon_variant SKCA-BR 2 262655 262655 single base substitution G A intron_variant SKCA-BR 2 262655 262655 single base substitution G A upstream_gene_variant SKCA-BR 2 264581 264581 single base substitution G C intron_variant SKCA-BR 2 264581 264581 single base substitution G C upstream_gene_variant SKCA-BR 2 270011 270011 single base substitution G A upstream_gene_variant SKCA-BR 2 271332 271332 single base substitution C A upstream_gene_variant SKCM-US 2 218837 218837 single base substitution G A 3_prime_UTR_variant SKCM-US 2 218837 218837 single base substitution G A downstream_gene_variant SKCM-US 2 218837 218837 single base substitution G A exon_variant SKCM-US 2 218837 218837 single base substitution G A missense_variant P220S 658C>T SKCM-US 2 218837 218837 single base substitution G A missense_variant P239S 715C>T SKCM-US 2 218837 218837 single base substitution G A missense_variant P248S 742C>T SKCM-US 2 218837 218837 single base substitution G A missense_variant P316S 946C>T SKCM-US 2 218837 218837 single base substitution G A missense_variant P335S 1003C>T SKCM-US 2 229993 229993 single base substitution G A 3_prime_UTR_variant SKCM-US 2 229993 229993 single base substitution G A downstream_gene_variant SKCM-US 2 229993 229993 single base substitution G A exon_variant SKCM-US 2 229993 229993 single base substitution G A missense_variant P156S 466C>T SKCM-US 2 229993 229993 single base substitution G A missense_variant P184S 550C>T SKCM-US 2 229993 229993 single base substitution G A missense_variant P208S 622C>T SKCM-US 2 229993 229993 single base substitution G A missense_variant P252S 754C>T STAD-US 2 231124 231124 single base substitution C T downstream_gene_variant STAD-US 2 231124 231124 single base substitution C T exon_variant STAD-US 2 231124 231124 single base substitution C T missense_variant E105K 313G>A STAD-US 2 231124 231124 single base substitution C T missense_variant E133K 397G>A STAD-US 2 231124 231124 single base substitution C T missense_variant E157K 469G>A STAD-US 2 231124 231124 single base substitution C T missense_variant E201K 601G>A STAD-US 2 231124 231124 single base substitution C T missense_variant E47K 139G>A STAD-US 2 234203 234203 single base substitution T C exon_variant STAD-US 2 234203 234203 single base substitution T C missense_variant T10A 28A>G STAD-US 2 234203 234203 single base substitution T C missense_variant T120A 358A>G STAD-US 2 234203 234203 single base substitution T C missense_variant T121A 361A>G STAD-US 2 234203 234203 single base substitution T C missense_variant T25A 73A>G STAD-US 2 234203 234203 single base substitution T C missense_variant T96A 286A>G STAD-US 2 234203 234203 single base substitution T C upstream_gene_variant THCA-SA 2 218386 218386 single base substitution G A 3_prime_UTR_variant THCA-SA 2 218386 218386 single base substitution G A downstream_gene_variant THCA-SA 2 218386 218386 single base substitution G A exon_variant THCA-SA 2 218386 218386 single base substitution G A intron_variant THCA-SA 2 224919 224919 single base substitution A G downstream_gene_variant THCA-SA 2 224919 224919 single base substitution A G intron_variant THCA-SA 2 224919 224919 single base substitution A G splice_region_variant THCA-SA 2 234231 234231 single base substitution T C 5_prime_UTR_variant THCA-SA 2 234231 234231 single base substitution T C exon_variant THCA-SA 2 234231 234231 single base substitution T C synonymous_variant V110V 330A>G THCA-SA 2 234231 234231 single base substitution T C synonymous_variant V111V 333A>G THCA-SA 2 234231 234231 single base substitution T C synonymous_variant V15V 45A>G THCA-SA 2 234231 234231 single base substitution T C synonymous_variant V86V 258A>G THCA-SA 2 234231 234231 single base substitution T C upstream_gene_variant UCEC-US 2 229928 229928 single base substitution A C downstream_gene_variant UCEC-US 2 229928 229928 single base substitution A C intron_variant UCEC-US 2 229928 229928 single base substitution A C missense_variant I229M 687T>G UCEC-US 2 231054 231054 single base substitution C T downstream_gene_variant UCEC-US 2 231054 231054 single base substitution C T exon_variant UCEC-US 2 231054 231054 single base substitution C T missense_variant R128K 383G>A UCEC-US 2 231054 231054 single base substitution C T missense_variant R156K 467G>A UCEC-US 2 231054 231054 single base substitution C T missense_variant R180K 539G>A UCEC-US 2 231054 231054 single base substitution C T missense_variant R224K 671G>A UCEC-US 2 231054 231054 single base substitution C T missense_variant R70K 209G>A UCEC-US 2 231121 231121 single base substitution C A downstream_gene_variant UCEC-US 2 231121 231121 single base substitution C A exon_variant UCEC-US 2 231121 231121 single base substitution C A missense_variant D106Y 316G>T UCEC-US 2 231121 231121 single base substitution C A missense_variant D134Y 400G>T UCEC-US 2 231121 231121 single base substitution C A missense_variant D158Y 472G>T UCEC-US 2 231121 231121 single base substitution C A missense_variant D202Y 604G>T UCEC-US 2 231121 231121 single base substitution C A missense_variant D48Y 142G>T UCEC-US 2 233195 233195 single base substitution C T exon_variant UCEC-US 2 233195 233195 single base substitution C T intron_variant UCEC-US 2 233195 233195 single base substitution C T missense_variant A147T 439G>A UCEC-US 2 233195 233195 single base substitution C T missense_variant A51T 151G>A UCEC-US 2 233195 233195 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-F5-6814-01 COSM3426179 c.537T>G p.F179L Substitution - Missense 2:231188-231188 - SNU-C4 COSM4653478 c.64G>A p.G22R Substitution - Missense 2:234212-234212 - TCGA-AP-A059-01 COSM4866491 c.439G>A p.A147T Substitution - Missense 2:233195-233195 - ESCC-D4 COSM5046188 c.634G>A p.E212K Substitution - Missense 2:231091-231091 - 16 COSM3735566 c.970G>A p.E324K Substitution - Missense 2:218870-218870 - TCGA-FS-A4FD-06 COSM3577605 c.1003C>T p.P335S Substitution - Missense 2:218837-218837 - ESCC-216T COSM3938913 c.870G>A p.A290A Substitution - coding silent 2:218970-218970 - AOCS-092-3-3 COSM4128201 c.553C>G p.R185G Substitution - Missense 2:231172-231172 - TCGA-QB-A6FS-06 COSM3909788 c.466C>T p.P156S Substitution - Missense 2:229993-229993 - HCT15 COSM2911478 c.203T>C p.V68A Substitution - Missense 2:249754-249754 - 2492722 COSM5723554 c.647T>G p.V216G Substitution - Missense 2:218905-218905 - S02290 COSM5686643 c.14T>C p.L5S Substitution - Missense 2:234262-234262 - CHC1207T COSM4800147 c.596A>G p.Q199R Substitution - Missense 2:231129-231129 - WA32 COSM241593 c.551G>T p.G184V Substitution - Missense 2:219001-219001 - S02290 COSM5686644 c.302T>C p.L101S Substitution - Missense 2:234262-234262 - PTC-14C COSM4133535 c.564C>G p.D188E Substitution - Missense 2:231161-231161 - Pat_45_B COSM5861752 c.941C>T p.S314L Substitution - Missense 2:218899-218899 - TCGA-D1-A17Q-01 COSM4865492 c.671G>A p.R224K Substitution - Missense 2:231054-231054 - PCSI_0334_Pa_P_526 COSM4807848 c.668C>T p.A223V Substitution - Missense 2:231057-231057 - TCGA-13-1499-01 COSM76412 c.353A>G p.Y118C Substitution - Missense 2:231084-231084 - 2492720 COSM5723555 c.935T>G p.V312G Substitution - Missense 2:218905-218905 - 4_RESISTANT COSM1724651 c.393_394insG p.P132fs*40 Insertion - Frameshift 2:234170-234171 - B57 COSM1752379 c.511G>C p.E171Q Substitution - Missense 2:233123-233123 - TCGA-EI-6917-01 COSM3426142 c.538C>A p.H180N Substitution - Missense 2:224876-224876 - ESO-859 COSM1240184 c.292A>G p.T98A Substitution - Missense 2:231145-231145 - B57-Tumor COSM1752379 c.511G>C p.E171Q Substitution - Missense 2:233123-233123 - TCGA-AP-A0LM-01 COSM1017603 c.316G>T p.D106Y Substitution - Missense 2:231121-231121 - SW403 COSM4310829 c.150C>T p.S50S Substitution - coding silent 2:233196-233196 - 49M COSM3577605 c.1003C>T p.P335S Substitution - Missense 2:218837-218837 - TCGA-AD-6889-01 COSM4948929 c.144A>G p.A48A Substitution - coding silent 2:249813-249813 - ATL060 COSM5708072 c.854C>A p.P285H Substitution - Missense 2:218986-218986 - CDGLIV0707A0251_T COSM5040050 c.449C>T p.P150L Substitution - Missense 2:230010-230010 - TCGA-E2-A10C-01 COSM4814792 c.709G>C p.E237Q Substitution - Missense 2:230038-230038 - sysucc-311T COSM5465509 c.281T>C p.I94T Substitution - Missense 2:247548-247548 - EGC15 COSM5058818 c.49G>A p.A17T Substitution - Missense 2:253068-253068 - TCGA-EI-6917-01 COSM3426143 c.826C>A p.H276N Substitution - Missense 2:224876-224876 - CH-56-T2 COSM5651083 c.703G>A p.A235T Substitution - Missense 2:230044-230044 - 2492723 COSM5723554 c.647T>G p.V216G Substitution - Missense 2:218905-218905 - TCGA-CD-A4MI-01 COSM4092256 c.313G>A p.E105K Substitution - Missense 2:231124-231124 - ESO-083 COSM1265514 c.79G>A p.G27R Substitution - Missense 2:234197-234197 - SW403 COSM4310830 c.438C>T p.S146S Substitution - coding silent 2:233196-233196 - ESCC-F19 COSM5047258 c.692T>A p.L231H Substitution - Missense 2:218860-218860 - TCGA-DS-A0VK-01 COSM1293977 c.371G>C p.R124P Substitution - Missense 2:231066-231066 - CHC1207T COSM4800146 c.308A>G p.Q103R Substitution - Missense 2:231129-231129 - TCGA-60-2719-01 COSM4861740 c.751G>T p.A251S Substitution - Missense 2:229996-229996 - AOCS-092-1-6 COSM4128200 c.265C>G p.R89G Substitution - Missense 2:231172-231172 - Pat_41_B COSM5861970 c.268G>A p.A90T Substitution - Missense 2:231169-231169 - TCGA-60-2719-01 COSM720320 c.463G>T p.A155S Substitution - Missense 2:229996-229996 - 2492720 COSM5723554 c.647T>G p.V216G Substitution - Missense 2:218905-218905 - 2492722 COSM5723555 c.935T>G p.V312G Substitution - Missense 2:218905-218905 - Patient_1 COSM5044563 c.461_462insATC p.S154_A155insS Insertion - In frame 2:229997-229998 - TCGA-AP-A0LM-01 COSM4873125 c.604G>T p.D202Y Substitution - Missense 2:231121-231121 - Pat_41_B COSM5861971 c.556G>A p.A186T Substitution - Missense 2:231169-231169 - TCGA-34-5234-01 COSM4860238 c.424G>T p.A142S Substitution - Missense 2:233210-233210 - TCGA-CD-A4MI-01 COSM4092465 c.73A>G p.T25A Substitution - Missense 2:234203-234203 - 2492721 COSM5723554 c.647T>G p.V216G Substitution - Missense 2:218905-218905 - Patient_1 COSM5044564 c.749_750insATC p.S250_A251insS Insertion - In frame 2:229997-229998 - Gp5D COSM3049076 c.496G>A p.G166R Substitution - Missense 2:233138-233138 - TCGA-AA-A03J-01 COSM301214 c.114A>G p.G38G Substitution - coding silent 2:234162-234162 - RK060_C01 COSM3702153 c.266G>A p.R89Q Substitution - Missense 2:231171-231171 - Pat_45_B COSM5861751 c.653C>T p.S218L Substitution - Missense 2:218899-218899 - AOCS-092-3-3 COSM4128200 c.265C>G p.R89G Substitution - Missense 2:231172-231172 - TCGA-BG-A0VZ-01 COSM1651339 c.21C>A p.S7S Substitution - coding silent 2:253096-253096 - 2492723 COSM5723555 c.935T>G p.V312G Substitution - Missense 2:218905-218905 - TCGA-CD-A4MI-01 COSM4092466 c.361A>G p.T121A Substitution - Missense 2:234203-234203 - SNU-175 COSM3049084 c.462G>C p.K154N Substitution - Missense 2:233172-233172 - SNU-C4 COSM4653479 c.352G>A p.G118R Substitution - Missense 2:234212-234212 - RK088_C01 COSM3702147 c.781+5A>C p.? Unknown 2:229961-229961 - PCSI_0334_Pa_P_526 COSM4807847 c.380C>T p.A127V Substitution - Missense 2:231057-231057 - ESCC-D4 COSM5046187 c.346G>A p.E116K Substitution - Missense 2:231091-231091 - Gp5D COSM3049075 c.208G>A p.G70R Substitution - Missense 2:233138-233138 - 07-058 COSM3736242 c.355G>A p.E119K Substitution - Missense 2:231082-231082 - CHC1207T COSM4800147 c.596A>G p.Q199R Substitution - Missense 2:231129-231129 - 003-0005-10TD COSM5416229 c.227-5A>T p.? Unknown 2:247607-247607 - TCGA-34-5234-01 COSM720254 c.136G>T p.A46S Substitution - Missense 2:233210-233210 - 07-058 COSM3736243 c.643G>A p.E215K Substitution - Missense 2:231082-231082 - TCGA-DC-4749-01 COSM3426205 c.470G>A p.G157E Substitution - Missense 2:233164-233164 - SH-0622 COSM5017301 c.103_104insT p.G35fs*41 Insertion - Frameshift 2:234172-234173 - TCGA-DC-4749-01 COSM3426204 c.182G>A p.G61E Substitution - Missense 2:233164-233164 - 16 COSM3735565 c.682G>A p.E228K Substitution - Missense 2:218870-218870 - ATL060 COSM5708071 c.566C>A p.P189H Substitution - Missense 2:218986-218986 - sysucc-274T COSM5476360 c.226+10C>T p.? Unknown 2:249721-249721 - TCGA-CD-A4MI-01 COSM4092257 c.601G>A p.E201K Substitution - Missense 2:231124-231124 - TCGA-AP-A059-01 COSM1017788 c.151G>A p.A51T Substitution - Missense 2:233195-233195 - ESCC-216T COSM3938912 c.582G>A p.A194A Substitution - coding silent 2:218970-218970 - TCGA-UB-A7ME-01 COSM4910141 c.4-1G>A p.? Unknown 2:234273-234273 - TCGA-DK-A3IK-01 COSM4810752 c.351C>G p.G117G Substitution - coding silent 2:234213-234213 - CHC1207T COSM4800146 c.308A>G p.Q103R Substitution - Missense 2:231129-231129 - CDGLIV0707A0251_T COSM5040051 c.737C>T p.P246L Substitution - Missense 2:230010-230010 - TCGA-CK-4951-01 COSM3938912 c.582G>A p.A194A Substitution - coding silent 2:218970-218970 - PTC-14C COSM4133534 c.276C>G p.D92E Substitution - Missense 2:231161-231161 - TCGA-DK-A3IK-01 COSM1306553 c.63C>G p.G21G Substitution - coding silent 2:234213-234213 - LUAD-FH5PJ COSM394495 c.6A>G p.V2V Substitution - coding silent 2:234270-234270 - RK088_C01 COSM3702146 c.493+5A>C p.? Unknown 2:229961-229961 - MO_1219 COSM5573003 c.113-8G>A p.? Unknown 2:249852-249852 - RK060_C01 COSM3702154 c.554G>A p.R185Q Substitution - Missense 2:231171-231171 - TCGA-BC-A10U-01 COSM4942466 c.692T>G p.L231R Substitution - Missense 2:218860-218860 - TCGA-F5-6814-01 COSM3426178 c.249T>G p.F83L Substitution - Missense 2:231188-231188 - ESCC_107 COSM5638505 c.429G>C p.L143L Substitution - coding silent 2:233205-233205 - SH-0622 COSM5017302 c.391_392insT p.G131fs*41 Insertion - Frameshift 2:234172-234173 - TCGA-CA-6717-01 COSM1404911 c.694C>T p.R232* Substitution - Nonsense 2:218858-218858 - TCGA-D1-A17Q-01 COSM1017585 c.383G>A p.R128K Substitution - Missense 2:231054-231054 - STC232 COSM5058820 c.34G>A p.E12K Substitution - Missense 2:253083-253083 - TCGA-AA-3697-01 COSM4784609 c.125C>T p.A42V Substitution - Missense 2:249832-249832 - TCGA-CA-6717-01 COSM2717925 c.982C>T p.R328* Substitution - Nonsense 2:218858-218858 - B57 COSM1752378 c.223G>C p.E75Q Substitution - Missense 2:233123-233123 - ccRCC-62 COSM1664155 c.128A>G p.K43R Substitution - Missense 2:249829-249829 - RK002_C COSM1631939 c.1G>T p.? Unknown 2:262630-262630 - TCGA-AA-3715-01 COSM270138 c.98C>T p.A33V Substitution - Missense 2:234178-234178 - CSCC-10-T COSM4545506 c.37G>A p.A13T Substitution - Missense 2:253080-253080 - ME032T COSM227213 c.661G>C p.D221H Substitution - Missense 2:218891-218891 - TCGA-13-1499-01 COSM4946869 c.641A>G p.Y214C Substitution - Missense 2:231084-231084 - TCGA-FS-A4FD-06 COSM3577604 c.715C>T p.P239S Substitution - Missense 2:218837-218837 - ESCC-F19 COSM5047259 c.980T>A p.L327H Substitution - Missense 2:218860-218860 - AOCS-092-1-6 COSM4128201 c.553C>G p.R185G Substitution - Missense 2:231172-231172 - 4_RESISTANT COSM1724650 c.105_106insG p.P36fs*40 Insertion - Frameshift 2:234170-234171 - 07-057 COSM3736242 c.355G>A p.E119K Substitution - Missense 2:231082-231082 - 49M COSM3577604 c.715C>T p.P239S Substitution - Missense 2:218837-218837 - TCGA-E2-A10C-01 COSM442443 c.421G>C p.E141Q Substitution - Missense 2:230038-230038 - ESCC_107 COSM5638504 c.141G>C p.L47L Substitution - coding silent 2:233205-233205 - SNUH_G76_S1 COSM3046423 c.529T>C p.S177P Substitution - Missense 2:224885-224885 - ESCC-F13 COSM5047139 c.91G>A p.G31R Substitution - Missense 2:253026-253026 - TCGA-DM-A1D9-01 COSM5167619 c.317A>T p.D106V Substitution - Missense 2:231120-231120 - SNU-175 COSM3049083 c.174G>C p.K58N Substitution - Missense 2:233172-233172 - TCGA-QB-A6FS-06 COSM3909789 c.754C>T p.P252S Substitution - Missense 2:229993-229993 - TCGA-BC-A10U-01 COSM4942467 c.980T>G p.L327R Substitution - Missense 2:218860-218860 - SNUH_G76_S1 COSM3046424 c.817T>C p.S273P Substitution - Missense 2:224885-224885 - DLD1 COSM2911478 c.203T>C p.V68A Substitution - Missense 2:249754-249754 - CH-56-T2 COSM5651082 c.415G>A p.A139T Substitution - Missense 2:230044-230044 - RK002_C01 COSM1631939 c.1G>T p.? Unknown 2:262630-262630 - 07-057 COSM3736243 c.643G>A p.E215K Substitution - Missense 2:231082-231082 - MO_1184 COSM5557246 c.122T>C p.I41T Substitution - Missense 2:249835-249835 - TCGA-UB-A7ME-01 COSM4910142 c.292-1G>A p.? Unknown 2:234273-234273 - AOCS-076-1-3 COSM4140994 c.231G>T p.W77C Substitution - Missense 2:247598-247598 - B57-Tumor COSM1752378 c.223G>C p.E75Q Substitution - Missense 2:233123-233123 - HCT8 COSM2911478 c.203T>C p.V68A Substitution - Missense 2:249754-249754 - 2492721 COSM5723555 c.935T>G p.V312G Substitution - Missense 2:218905-218905 - TCGA-CA-6718-01 COSM4787013 c.32C>T p.S11L Substitution - Missense 2:253085-253085 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.515949;Hs.515951 2p25.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.2-3244T>G 2 256359 CLL C A IntronicSNV . c.1+1354G>T 2 262630 HC C A Missense p.A142S c.424G>T 2 233210 LUSC C A Missense p.A251S c.751G>T 2 229996 LUSC C G Missense p.D317H c.949G>C 2 218891 CM C T Missense p.G123R c.367G>A 2 234197 ESCA G C IntronicSNV . c.702+45C>G 2 230978 CM G C Synonymous p.G117G c.351C>G 2 234213 BLCA G C Synonymous p.R71R c.213C>G 2 249744 RCCC G T IntronicSNV . c.1+3032C>A 2 260952 HC TAT - IntronicDeletion . c.702+250_702+252delTAT 2 230771 HC T C Missense p.T194A c.580A>G 2 231145 ESCA T C Missense p.Y214C c.641A>G 2 231084 OV T C Synonymous p.G134G c.402A>G 2 234162 COREAD