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 4 106603899 106603899 + Silent SNP G G C TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chr4:106603899G>C c.1380C>G c.(1378-1380)ctC>ctG p.L460L BLCA 4 106603932 106603932 + Silent SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr4:106603932C>T c.1347G>A c.(1345-1347)caG>caA p.Q449Q BLCA 4 106614616 106614616 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr4:106614616C>G c.337G>C c.(337-339)Gat>Cat p.D113H BLCA 4 106614625 106614625 + Missense_Mutation SNP C C T TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr4:106614625C>T c.328G>A c.(328-330)Gaa>Aaa p.E110K BRCA 4 106604111 106604111 + Missense_Mutation SNP G G A TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr4:106604111G>A c.1168C>T c.(1168-1170)Cca>Tca p.P390S BRCA 4 106604454 106604454 + Silent SNP T T A TCGA-D8-A1JS-01A-11D-A13L-09 TCGA-D8-A1JS-10A-01D-A13O-09 g.chr4:106604454T>A c.825A>T c.(823-825)ggA>ggT p.G275G BRCA 4 106613283 106613283 + Missense_Mutation SNP C C T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 g.chr4:106613283C>T c.507G>A c.(505-507)atG>atA p.M169I BRCA 4 106614625 106614625 + Missense_Mutation SNP C C T TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 g.chr4:106614625C>T c.328G>A c.(328-330)Gaa>Aaa p.E110K BRCA 4 106621097 106621097 + Silent SNP T T C TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr4:106621097T>C c.66A>G c.(64-66)tcA>tcG p.S22S CESC 4 106604362 106604362 + Nonsense_Mutation SNP G G C TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 g.chr4:106604362G>C c.917C>G c.(916-918)tCa>tGa p.S306* CESC 4 106616790 106616791 + Frame_Shift_Ins INS - - T TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 g.chr4:106616790_106616791insT c.191_192insA c.(190-192)aacfs p.N64fs CHOL 4 106604263 106604263 + Nonsense_Mutation SNP G G T TCGA-W5-AA2Q-01A-11D-A417-09 TCGA-W5-AA2Q-10A-01D-A41A-09 g.chr4:106604263G>T c.1016C>A c.(1015-1017)tCa>tAa p.S339* CHOL 4 106614585 106614585 + Missense_Mutation SNP G G T TCGA-W5-AA34-01A-11D-A417-09 TCGA-W5-AA34-10A-01D-A41A-09 g.chr4:106614585G>T c.368C>A c.(367-369)cCa>cAa p.P123Q COAD 4 106604196 106604196 + Missense_Mutation SNP T T G TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr4:106604196T>G c.1083A>C c.(1081-1083)aaA>aaC p.K361N COAD 4 106607849 106607849 + Splice_Site SNP C C A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr4:106607849C>A c.804G>T c.(802-804)aaG>aaT p.K268N COAD 4 106613178 106613178 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:106613178G>A c.612C>T c.(610-612)cgC>cgT p.R204R COADREAD 4 106604196 106604196 + Missense_Mutation SNP T T G TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr4:106604196T>G c.1083A>C c.(1081-1083)aaA>aaC p.K361N COADREAD 4 106607849 106607849 + Splice_Site SNP C C A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr4:106607849C>A c.804G>T c.(802-804)aaG>aaT p.K268N COADREAD 4 106613178 106613178 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:106613178G>A c.612C>T c.(610-612)cgC>cgT p.R204R DLBC 4 106621116 106621116 + Missense_Mutation SNP G G A TCGA-FF-A7CQ-01A-11D-A382-10 TCGA-FF-A7CQ-10A-01D-A385-10 g.chr4:106621116G>A c.47C>T c.(46-48)gCa>gTa p.A16V GBM 4 106604288 106604288 + Missense_Mutation SNP C C T TCGA-28-2502-01B-01D-1494-08 TCGA-28-2502-10A-01D-1494-08 g.chr4:106604288C>T c.991G>A c.(991-993)Gtg>Atg p.V331M GBMLGG 4 106604288 106604288 + Missense_Mutation SNP C C T TCGA-28-2502-01B-01D-1494-08 TCGA-28-2502-10A-01D-1494-08 g.chr4:106604288C>T c.991G>A c.(991-993)Gtg>Atg p.V331M HNSC 4 106604001 106604001 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr4:106604001G>A c.1278C>T c.(1276-1278)agC>agT p.S426S HNSC 4 106604207 106604207 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 g.chr4:106604207C>T c.1072G>A c.(1072-1074)Gta>Ata p.V358I HNSC 4 106604428 106604428 + Frame_Shift_Del DEL G G - TCGA-BA-6872-01A-11D-1870-08 TCGA-BA-6872-10A-01D-1870-08 g.chr4:106604428delG c.851delC c.(850-852)tcgfs p.S285fs HNSC 4 106621141 106621141 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 g.chr4:106621141C>T c.22G>A c.(22-24)Gaa>Aaa p.E8K HNSC 4 106621142 106621142 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 g.chr4:106621142C>A c.21G>T c.(19-21)ttG>ttT p.L7F KIPAN 4 106603970 106603970 + Missense_Mutation SNP A A C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 g.chr4:106603970A>C c.1309T>G c.(1309-1311)Tca>Gca p.S437A KIRC 4 106603970 106603970 + Missense_Mutation SNP A A C TCGA-B4-5844-01A-11D-1669-08 TCGA-B4-5844-10A-01D-1669-08 g.chr4:106603970A>C c.1309T>G c.(1309-1311)Tca>Gca p.S437A LIHC 4 106604433 106604433 + Silent SNP A A T TCGA-DD-AAEE-01A-11D-A40R-10 TCGA-DD-AAEE-10A-01D-A40U-10 g.chr4:106604433A>T c.846T>A c.(844-846)gtT>gtA p.V282V LIHC 4 106614468 106614468 + Missense_Mutation SNP C C T TCGA-ED-A8O5-01A-11D-A35Z-10 TCGA-ED-A8O5-10A-01D-A35Z-10 g.chr4:106614468C>T c.485G>A c.(484-486)tGc>tAc p.C162Y LUAD 4 106603920 106603920 + Missense_Mutation SNP C C A TCGA-97-8174-01A-11D-2284-08 TCGA-97-8174-10A-01D-2284-08 g.chr4:106603920C>A c.1359G>T c.(1357-1359)aaG>aaT p.K453N LUAD 4 106603997 106603997 + Missense_Mutation SNP G G A TCGA-80-5611-01A-01D-1625-08 TCGA-80-5611-10A-01D-1625-08 g.chr4:106603997G>A c.1282C>T c.(1282-1284)Ccc>Tcc p.P428S LUAD 4 106604219 106604219 + Missense_Mutation SNP T T A TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr4:106604219T>A c.1060A>T c.(1060-1062)Act>Tct p.T354S LUAD 4 106604352 106604352 + Silent SNP T T C TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr4:106604352T>C c.927A>G c.(925-927)aaA>aaG p.K309K LUAD 4 106616825 106616825 + Splice_Site SNP C C G TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 g.chr4:106616825C>G c.157G>C c.(157-159)Gat>Cat p.D53H LUAD 4 106621078 106621078 + Missense_Mutation SNP C C T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr4:106621078C>T c.85G>A c.(85-87)Gaa>Aaa p.E29K OV 4 106614528 106614528 + Missense_Mutation SNP T T A TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 g.chr4:106614528T>A c.425A>T c.(424-426)gAc>gTc p.D142V PRAD 4 106607868 106607868 + Missense_Mutation SNP A A G TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 g.chr4:106607868A>G c.785T>C c.(784-786)tTt>tCt p.F262S SKCM 4 106603910 106603910 + Missense_Mutation SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr4:106603910G>T c.1369C>A c.(1369-1371)Caa>Aaa p.Q457K SKCM 4 106604163 106604163 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr4:106604163G>A c.1116C>T c.(1114-1116)ggC>ggT p.G372G SKCM 4 106614568 106614568 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr4:106614568G>A c.385C>T c.(385-387)Ccc>Tcc p.P129S SKCM 4 106621017 106621017 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:106621017G>A c.146C>T c.(145-147)cCa>cTa p.P49L

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 4 106638950 106638950 single base substitution T A intron_variant BLCA-US 4 106603932 106603932 single base substitution C T downstream_gene_variant BLCA-US 4 106603932 106603932 single base substitution C T synonymous_variant Q449Q 1347G>A BLCA-US 4 106614616 106614616 single base substitution C G downstream_gene_variant BLCA-US 4 106614616 106614616 single base substitution C G missense_variant D113H 337G>C BLCA-US 4 106614625 106614625 single base substitution C T downstream_gene_variant BLCA-US 4 106614625 106614625 single base substitution C T missense_variant E110K 328G>A BOCA-UK 4 106604447 106604447 single base substitution A T exon_variant BOCA-UK 4 106604447 106604447 single base substitution A T missense_variant S278T 832T>A BRCA-EU 4 106599888 106599888 single base substitution G C downstream_gene_variant BRCA-EU 4 106600531 106600531 single base substitution C T downstream_gene_variant BRCA-EU 4 106600809 106600809 single base substitution C T downstream_gene_variant BRCA-EU 4 106602109 106602109 single base substitution T C downstream_gene_variant BRCA-EU 4 106602898 106602898 single base substitution C A downstream_gene_variant BRCA-EU 4 106603494 106603494 single base substitution C T downstream_gene_variant BRCA-EU 4 106606966 106606966 single base substitution T G intron_variant BRCA-EU 4 106607230 106607230 deletion of <=200bp T - intron_variant BRCA-EU 4 106612960 106612960 single base substitution G A downstream_gene_variant BRCA-EU 4 106612960 106612960 single base substitution G A intron_variant BRCA-EU 4 106612960 106612960 single base substitution G A upstream_gene_variant BRCA-EU 4 106613142 106613142 single base substitution C T downstream_gene_variant BRCA-EU 4 106613142 106613142 single base substitution C T missense_variant M216I 648G>A BRCA-EU 4 106613142 106613142 single base substitution C T upstream_gene_variant BRCA-EU 4 106614108 106614108 single base substitution A G downstream_gene_variant BRCA-EU 4 106614108 106614108 single base substitution A G intron_variant BRCA-EU 4 106615459 106615459 single base substitution T C downstream_gene_variant BRCA-EU 4 106615459 106615459 single base substitution T C intron_variant BRCA-EU 4 106616863 106616863 single base substitution A T downstream_gene_variant BRCA-EU 4 106616863 106616863 single base substitution A T intron_variant BRCA-EU 4 106617070 106617070 single base substitution G C downstream_gene_variant BRCA-EU 4 106617070 106617070 single base substitution G C intron_variant BRCA-EU 4 106617371 106617371 single base substitution C A downstream_gene_variant BRCA-EU 4 106617371 106617371 single base substitution C A intron_variant BRCA-EU 4 106617533 106617533 single base substitution T C downstream_gene_variant BRCA-EU 4 106617533 106617533 single base substitution T C intron_variant BRCA-EU 4 106619796 106619796 single base substitution G C downstream_gene_variant BRCA-EU 4 106619796 106619796 single base substitution G C intron_variant BRCA-EU 4 106620715 106620715 deletion of <=200bp A - downstream_gene_variant BRCA-EU 4 106620715 106620715 deletion of <=200bp A - intron_variant BRCA-EU 4 106620976 106620976 single base substitution C G downstream_gene_variant BRCA-EU 4 106620976 106620976 single base substitution C G intron_variant BRCA-EU 4 106622163 106622163 single base substitution A G intron_variant BRCA-EU 4 106626681 106626681 single base substitution T G intron_variant BRCA-EU 4 106628289 106628289 single base substitution C G intron_variant BRCA-EU 4 106628540 106628540 single base substitution C G intron_variant BRCA-EU 4 106630606 106630606 single base substitution C A intron_variant BRCA-EU 4 106630606 106630606 single base substitution C A upstream_gene_variant BRCA-EU 4 106631138 106631138 single base substitution T C intron_variant BRCA-EU 4 106631138 106631138 single base substitution T C upstream_gene_variant BRCA-EU 4 106631170 106631170 single base substitution G C intron_variant BRCA-EU 4 106631170 106631170 single base substitution G C upstream_gene_variant BRCA-EU 4 106633750 106633750 single base substitution C T intron_variant BRCA-EU 4 106633750 106633750 single base substitution C T upstream_gene_variant BRCA-EU 4 106634750 106634750 single base substitution A G intron_variant BRCA-EU 4 106634750 106634750 single base substitution A G upstream_gene_variant BRCA-EU 4 106637409 106637409 single base substitution A T intron_variant BRCA-EU 4 106638531 106638531 single base substitution C G intron_variant BRCA-EU 4 106638608 106638608 single base substitution C G intron_variant BRCA-EU 4 106638669 106638669 single base substitution G T intron_variant BRCA-EU 4 106638841 106638841 single base substitution G A intron_variant BRCA-EU 4 106639172 106639172 single base substitution G T intron_variant BRCA-EU 4 106639406 106639406 single base substitution G C intron_variant BRCA-EU 4 106640643 106640643 single base substitution C T intron_variant BRCA-EU 4 106641256 106641258 deletion of <=200bp TTA - intron_variant BRCA-EU 4 106642810 106642810 insertion of <=200bp - T intron_variant BRCA-EU 4 106643545 106643545 single base substitution C T intron_variant BRCA-EU 4 106644305 106644305 single base substitution G A intron_variant BRCA-EU 4 106644451 106644451 deletion of <=200bp T - intron_variant BRCA-EU 4 106645905 106645905 single base substitution G C intron_variant BRCA-EU 4 106646844 106646844 single base substitution G A intron_variant BRCA-EU 4 106648669 106648669 single base substitution G A intron_variant BRCA-EU 4 106648684 106648684 single base substitution A G intron_variant BRCA-EU 4 106649319 106649319 single base substitution G A intron_variant BRCA-EU 4 106649474 106649474 single base substitution G C intron_variant BRCA-EU 4 106649974 106649974 single base substitution G T intron_variant BRCA-EU 4 106651148 106651148 single base substitution G T intron_variant BRCA-EU 4 106651413 106651413 single base substitution C A intron_variant BRCA-EU 4 106651462 106651462 single base substitution G C intron_variant BRCA-EU 4 106652390 106652390 single base substitution T A intron_variant BRCA-EU 4 106652873 106652873 single base substitution C T intron_variant BRCA-EU 4 106652923 106652923 single base substitution G T intron_variant BRCA-EU 4 106653245 106653245 single base substitution G A intron_variant BRCA-EU 4 106653626 106653626 single base substitution T A intron_variant BRCA-EU 4 106653724 106653724 single base substitution T C intron_variant BRCA-EU 4 106654049 106654049 single base substitution C T intron_variant BRCA-EU 4 106654175 106654175 single base substitution G A intron_variant BRCA-EU 4 106656790 106656790 single base substitution G A intron_variant BRCA-EU 4 106656925 106656925 single base substitution C T intron_variant BRCA-EU 4 106657186 106657186 single base substitution A C intron_variant BRCA-EU 4 106659559 106659559 deletion of <=200bp T - intron_variant BRCA-EU 4 106660570 106660570 single base substitution G T intron_variant BRCA-EU 4 106660623 106660623 single base substitution C T intron_variant BRCA-EU 4 106661412 106661416 deletion of <=200bp CACTT - intron_variant BRCA-EU 4 106662168 106662168 single base substitution T C intron_variant BRCA-EU 4 106662764 106662764 single base substitution T C intron_variant BRCA-EU 4 106664878 106664878 single base substitution C T intron_variant BRCA-EU 4 106665212 106665212 single base substitution T C intron_variant BRCA-EU 4 106666280 106666280 single base substitution T A intron_variant BRCA-EU 4 106666569 106666569 single base substitution G C intron_variant BRCA-EU 4 106667774 106667774 single base substitution G A intron_variant BRCA-EU 4 106668374 106668374 single base substitution T G intron_variant BRCA-EU 4 106669178 106669178 single base substitution G A intron_variant BRCA-EU 4 106669887 106669887 single base substitution C T intron_variant BRCA-EU 4 106669933 106669933 single base substitution C G intron_variant BRCA-EU 4 106671556 106671556 single base substitution G A intron_variant BRCA-EU 4 106671604 106671604 single base substitution C T intron_variant BRCA-EU 4 106673757 106673757 single base substitution G T intron_variant BRCA-EU 4 106674989 106674989 single base substitution G C intron_variant BRCA-EU 4 106675802 106675802 single base substitution C T intron_variant BRCA-EU 4 106678006 106678006 single base substitution T G intron_variant BRCA-EU 4 106678767 106678767 single base substitution C T intron_variant BRCA-EU 4 106680518 106680518 single base substitution T C intron_variant BRCA-EU 4 106680688 106680688 single base substitution G A intron_variant BRCA-EU 4 106681425 106681425 single base substitution T C intron_variant BRCA-EU 4 106683133 106683133 single base substitution C T intron_variant BRCA-EU 4 106688237 106688237 single base substitution C G intron_variant BRCA-EU 4 106690224 106690224 single base substitution T C intron_variant BRCA-EU 4 106694471 106694471 single base substitution G C intron_variant BRCA-EU 4 106694479 106694479 single base substitution G A intron_variant BRCA-EU 4 106694481 106694481 insertion of <=200bp - T intron_variant BRCA-EU 4 106694991 106694991 single base substitution G C intron_variant BRCA-EU 4 106697566 106697566 single base substitution T A intron_variant BRCA-EU 4 106697609 106697609 single base substitution C T intron_variant BRCA-EU 4 106698478 106698478 single base substitution A G intron_variant BRCA-EU 4 106699155 106699155 single base substitution T C intron_variant BRCA-EU 4 106699477 106699477 single base substitution G A intron_variant BRCA-EU 4 106702624 106702624 single base substitution G A intron_variant BRCA-EU 4 106702966 106702966 single base substitution T C intron_variant BRCA-EU 4 106703087 106703087 single base substitution G A intron_variant BRCA-EU 4 106705140 106705140 single base substitution G C intron_variant BRCA-EU 4 106705168 106705168 single base substitution T C intron_variant BRCA-EU 4 106707533 106707533 single base substitution G A intron_variant BRCA-EU 4 106707539 106707539 single base substitution C T intron_variant BRCA-EU 4 106708614 106708614 single base substitution G A intron_variant BRCA-EU 4 106709248 106709248 single base substitution G C intron_variant BRCA-EU 4 106711331 106711331 single base substitution T C intron_variant BRCA-EU 4 106711530 106711530 single base substitution G T intron_variant BRCA-EU 4 106712514 106712514 single base substitution C T intron_variant BRCA-EU 4 106713380 106713380 single base substitution G A intron_variant BRCA-EU 4 106713679 106713713 deletion of <=200bp AATACTTAAGAAATCAGAATCCGGGCATATTAAAA - intron_variant BRCA-EU 4 106717374 106717374 single base substitution G A intron_variant BRCA-EU 4 106717812 106717812 single base substitution C T intron_variant BRCA-EU 4 106717985 106717985 deletion of <=200bp A - intron_variant BRCA-EU 4 106718540 106718540 single base substitution A G intron_variant BRCA-EU 4 106719833 106719833 single base substitution G C intron_variant BRCA-EU 4 106729571 106729571 single base substitution C A intron_variant BRCA-EU 4 106729614 106729614 single base substitution C G intron_variant BRCA-EU 4 106733051 106733051 single base substitution G T intron_variant BRCA-EU 4 106733114 106733114 single base substitution A G intron_variant BRCA-EU 4 106734371 106734371 single base substitution A G intron_variant BRCA-EU 4 106734983 106734983 single base substitution A G intron_variant BRCA-EU 4 106735398 106735398 single base substitution T C intron_variant BRCA-EU 4 106735499 106735499 single base substitution G C intron_variant BRCA-EU 4 106736639 106736639 single base substitution C A intron_variant BRCA-EU 4 106736667 106736667 single base substitution C T intron_variant BRCA-EU 4 106739916 106739916 single base substitution G A intron_variant BRCA-EU 4 106742817 106742817 single base substitution C G intron_variant BRCA-EU 4 106742894 106742894 single base substitution C T intron_variant BRCA-EU 4 106743262 106743262 single base substitution T A intron_variant BRCA-EU 4 106744059 106744059 single base substitution G C intron_variant BRCA-EU 4 106744093 106744093 single base substitution A G intron_variant BRCA-EU 4 106744636 106744636 single base substitution C G intron_variant BRCA-EU 4 106744930 106744930 single base substitution G C intron_variant BRCA-EU 4 106746730 106746730 single base substitution C T intron_variant BRCA-EU 4 106746865 106746865 single base substitution C T intron_variant BRCA-EU 4 106747489 106747489 single base substitution C G intron_variant BRCA-EU 4 106749823 106749823 single base substitution G C intron_variant BRCA-EU 4 106751203 106751203 single base substitution C T intron_variant BRCA-EU 4 106752952 106752952 single base substitution G T intron_variant BRCA-EU 4 106753414 106753414 deletion of <=200bp T - intron_variant BRCA-EU 4 106753414 106753414 insertion of <=200bp - T intron_variant BRCA-EU 4 106755165 106755165 single base substitution G A intron_variant BRCA-EU 4 106755587 106755587 single base substitution C G intron_variant BRCA-EU 4 106757036 106757036 single base substitution C A intron_variant BRCA-EU 4 106758046 106758046 single base substitution A T intron_variant BRCA-EU 4 106759454 106759454 single base substitution C G intron_variant BRCA-EU 4 106759520 106759520 single base substitution A T intron_variant BRCA-EU 4 106759923 106759923 single base substitution G A intron_variant BRCA-EU 4 106760795 106760795 single base substitution C A intron_variant BRCA-EU 4 106762716 106762716 single base substitution G A intron_variant BRCA-EU 4 106767605 106767605 single base substitution G T intron_variant BRCA-EU 4 106768531 106768531 single base substitution G C intron_variant BRCA-EU 4 106768759 106768759 single base substitution G A intron_variant BRCA-EU 4 106769215 106769215 single base substitution T A intron_variant BRCA-EU 4 106770739 106770739 deletion of <=200bp T - intron_variant BRCA-EU 4 106770894 106770894 single base substitution C T intron_variant BRCA-EU 4 106771169 106771169 single base substitution C T intron_variant BRCA-EU 4 106776219 106776219 single base substitution G A intron_variant BRCA-EU 4 106777398 106777398 single base substitution C T intron_variant BRCA-EU 4 106777642 106777642 single base substitution G A intron_variant BRCA-EU 4 106778433 106778433 single base substitution G A intron_variant BRCA-EU 4 106781347 106781347 single base substitution G C intron_variant BRCA-EU 4 106783729 106783729 single base substitution A C intron_variant BRCA-EU 4 106784736 106784736 single base substitution C A intron_variant BRCA-EU 4 106784854 106784854 single base substitution G C intron_variant BRCA-EU 4 106787226 106787226 single base substitution T C intron_variant BRCA-EU 4 106789490 106789490 single base substitution G C intron_variant BRCA-EU 4 106789891 106789891 single base substitution G T intron_variant BRCA-EU 4 106790807 106790807 single base substitution C T intron_variant BRCA-EU 4 106791158 106791158 single base substitution C G intron_variant BRCA-EU 4 106791219 106791219 single base substitution T C intron_variant BRCA-EU 4 106791220 106791220 single base substitution C G intron_variant BRCA-EU 4 106791398 106791398 single base substitution C T intron_variant BRCA-EU 4 106792201 106792201 single base substitution C T intron_variant BRCA-EU 4 106792650 106792650 insertion of <=200bp - A intron_variant BRCA-EU 4 106793618 106793618 deletion of <=200bp G - intron_variant BRCA-EU 4 106794263 106794263 single base substitution G C intron_variant BRCA-EU 4 106795511 106795512 deletion of <=200bp TT - intron_variant BRCA-EU 4 106796302 106796302 insertion of <=200bp - A intron_variant BRCA-EU 4 106796745 106796750 deletion of <=200bp AGAAAT - intron_variant BRCA-EU 4 106796844 106796844 single base substitution C G intron_variant BRCA-EU 4 106798132 106798132 single base substitution C G intron_variant BRCA-EU 4 106799598 106799598 single base substitution C A intron_variant BRCA-EU 4 106800235 106800235 single base substitution C A intron_variant BRCA-EU 4 106800967 106800967 single base substitution C G intron_variant BRCA-EU 4 106801095 106801095 single base substitution G C intron_variant BRCA-EU 4 106801978 106801978 single base substitution G C intron_variant BRCA-EU 4 106801987 106801987 single base substitution G A intron_variant BRCA-EU 4 106801988 106801988 single base substitution A C intron_variant BRCA-EU 4 106803607 106803607 single base substitution G A intron_variant BRCA-EU 4 106803672 106803672 single base substitution G C intron_variant BRCA-EU 4 106805811 106805811 single base substitution C T intron_variant BRCA-EU 4 106806784 106806784 single base substitution G A intron_variant BRCA-EU 4 106807023 106807023 single base substitution G A intron_variant BRCA-EU 4 106807109 106807109 single base substitution C T intron_variant BRCA-EU 4 106810518 106810518 single base substitution T A intron_variant BRCA-EU 4 106811328 106811328 single base substitution A C intron_variant BRCA-EU 4 106814552 106814552 single base substitution A C intron_variant BRCA-EU 4 106817290 106817290 single base substitution C T upstream_gene_variant BRCA-EU 4 106819044 106819044 deletion of <=200bp T - upstream_gene_variant BRCA-FR 4 106599286 106599286 single base substitution G C downstream_gene_variant BRCA-FR 4 106599372 106599372 single base substitution G C downstream_gene_variant BRCA-FR 4 106599596 106599596 single base substitution G C downstream_gene_variant BRCA-FR 4 106599888 106599888 single base substitution G C downstream_gene_variant BRCA-FR 4 106613142 106613142 single base substitution C T downstream_gene_variant BRCA-FR 4 106613142 106613142 single base substitution C T missense_variant M216I 648G>A BRCA-FR 4 106613142 106613142 single base substitution C T upstream_gene_variant BRCA-FR 4 106619650 106619650 single base substitution C G downstream_gene_variant BRCA-FR 4 106619650 106619650 single base substitution C G intron_variant BRCA-FR 4 106622502 106622502 single base substitution G A intron_variant BRCA-FR 4 106629945 106629945 single base substitution C T 5_prime_UTR_variant BRCA-FR 4 106629945 106629945 single base substitution C T intron_variant BRCA-FR 4 106629945 106629945 single base substitution C T upstream_gene_variant BRCA-FR 4 106648669 106648669 single base substitution G A intron_variant BRCA-FR 4 106652873 106652873 single base substitution C T intron_variant BRCA-FR 4 106660623 106660623 single base substitution C T intron_variant BRCA-FR 4 106667013 106667013 single base substitution C G intron_variant BRCA-FR 4 106678767 106678767 single base substitution C T intron_variant BRCA-FR 4 106679672 106679672 single base substitution C A intron_variant BRCA-FR 4 106703257 106703257 single base substitution T A intron_variant BRCA-FR 4 106711530 106711530 single base substitution G T intron_variant BRCA-FR 4 106718540 106718540 single base substitution A G intron_variant BRCA-FR 4 106729571 106729571 single base substitution C A intron_variant BRCA-FR 4 106733114 106733114 single base substitution A G intron_variant BRCA-FR 4 106740513 106740513 single base substitution C G intron_variant BRCA-FR 4 106744636 106744636 single base substitution C G intron_variant BRCA-FR 4 106746865 106746865 single base substitution C T intron_variant BRCA-FR 4 106748689 106748689 single base substitution C A intron_variant BRCA-FR 4 106749823 106749823 single base substitution G C intron_variant BRCA-FR 4 106752267 106752267 single base substitution T C intron_variant BRCA-FR 4 106754834 106754834 single base substitution G A intron_variant BRCA-FR 4 106759923 106759923 single base substitution G A intron_variant BRCA-FR 4 106781347 106781347 single base substitution G C intron_variant BRCA-FR 4 106800967 106800967 single base substitution C G intron_variant BRCA-FR 4 106801095 106801095 single base substitution G C intron_variant BRCA-FR 4 106807417 106807417 single base substitution G C intron_variant BRCA-KR 4 106819012 106819012 single base substitution C G upstream_gene_variant BRCA-KR 4 106819206 106819206 single base substitution C T upstream_gene_variant BRCA-UK 4 106620074 106620074 single base substitution G C downstream_gene_variant BRCA-UK 4 106620074 106620074 single base substitution G C intron_variant BRCA-UK 4 106621083 106621083 single base substitution G C downstream_gene_variant BRCA-UK 4 106621083 106621083 single base substitution G C missense_variant S27C 80C>G BRCA-UK 4 106621083 106621083 single base substitution G C missense_variant S40C 119C>G BRCA-UK 4 106639406 106639406 single base substitution G C intron_variant BRCA-UK 4 106659296 106659296 single base substitution C G intron_variant BRCA-UK 4 106662205 106662205 single base substitution C A intron_variant BRCA-UK 4 106668374 106668374 single base substitution T G intron_variant BRCA-UK 4 106675229 106675229 single base substitution G C intron_variant BRCA-UK 4 106675676 106675676 single base substitution G C intron_variant BRCA-UK 4 106688237 106688237 single base substitution C G intron_variant BRCA-UK 4 106693194 106693194 single base substitution C G intron_variant BRCA-UK 4 106755165 106755165 single base substitution G A intron_variant BRCA-UK 4 106762716 106762716 single base substitution G A intron_variant BRCA-UK 4 106768531 106768531 single base substitution G C intron_variant BRCA-UK 4 106773204 106773204 single base substitution G C intron_variant BRCA-UK 4 106776717 106776717 single base substitution G A intron_variant BRCA-UK 4 106790807 106790807 single base substitution C T intron_variant BRCA-UK 4 106791398 106791398 single base substitution C T intron_variant BRCA-UK 4 106792201 106792201 single base substitution C T intron_variant BRCA-US 4 106604111 106604111 single base substitution G A downstream_gene_variant BRCA-US 4 106604111 106604111 single base substitution G A missense_variant P390S 1168C>T BRCA-US 4 106604454 106604454 single base substitution T A exon_variant BRCA-US 4 106604454 106604454 single base substitution T A synonymous_variant G275G 825A>T BRCA-US 4 106613283 106613283 single base substitution C T downstream_gene_variant BRCA-US 4 106613283 106613283 single base substitution C T missense_variant M169I 507G>A BRCA-US 4 106614625 106614625 single base substitution C T downstream_gene_variant BRCA-US 4 106614625 106614625 single base substitution C T missense_variant E110K 328G>A BRCA-US 4 106621097 106621097 single base substitution T C downstream_gene_variant BRCA-US 4 106621097 106621097 single base substitution T C synonymous_variant S22S 66A>G BRCA-US 4 106621097 106621097 single base substitution T C synonymous_variant S35S 105A>G BRCA-US 4 106640362 106640362 single base substitution A C intron_variant BRCA-US 4 106746941 106746941 single base substitution G A intron_variant BRCA-US 4 106819082 106819082 single base substitution G A upstream_gene_variant BTCA-JP 4 106744010 106744010 deletion of <=200bp C - intron_variant BTCA-JP 4 106763146 106763146 insertion of <=200bp - T intron_variant BTCA-JP 4 106763393 106763393 single base substitution A G intron_variant CESC-US 4 106598933 106598933 single base substitution C G downstream_gene_variant CESC-US 4 106604362 106604362 single base substitution G C exon_variant CESC-US 4 106604362 106604362 single base substitution G C stop_gained S306* 917C>G CESC-US 4 106616790 106616790 insertion of <=200bp - T downstream_gene_variant CESC-US 4 106616790 106616790 insertion of <=200bp - T frameshift_variant N64N? CESC-US 4 106630022 106630022 single base substitution C T 5_prime_UTR_variant CESC-US 4 106630022 106630022 single base substitution C T intron_variant CESC-US 4 106630022 106630022 single base substitution C T upstream_gene_variant CESC-US 4 106640343 106640343 single base substitution G A intron_variant CLLE-ES 4 106599672 106599672 single base substitution G A downstream_gene_variant CLLE-ES 4 106630976 106630976 single base substitution T C intron_variant CLLE-ES 4 106630976 106630976 single base substitution T C upstream_gene_variant CLLE-ES 4 106641084 106641084 single base substitution A T intron_variant CLLE-ES 4 106667945 106667945 single base substitution A G intron_variant CLLE-ES 4 106687393 106687393 single base substitution C T intron_variant CLLE-ES 4 106726855 106726855 single base substitution G T intron_variant CLLE-ES 4 106761003 106761003 single base substitution T C intron_variant CLLE-ES 4 106783899 106783899 single base substitution A C intron_variant CLLE-ES 4 106807256 106807256 single base substitution G T intron_variant COAD-US 4 106613178 106613178 single base substitution G A downstream_gene_variant COAD-US 4 106613178 106613178 single base substitution G A synonymous_variant R204R 612C>T COAD-US 4 106613178 106613178 single base substitution G A upstream_gene_variant COAD-US 4 106639136 106639136 single base substitution A C intron_variant COAD-US 4 106650580 106650580 single base substitution G T intron_variant COAD-US 4 106755648 106755648 single base substitution G T intron_variant COAD-US 4 106755689 106755689 single base substitution C T intron_variant COAD-US 4 106766627 106766627 single base substitution G A intron_variant COAD-US 4 106766662 106766662 single base substitution C T intron_variant COCA-CN 4 106640350 106640350 single base substitution T C intron_variant COCA-CN 4 106648021 106648021 single base substitution C A intron_variant COCA-CN 4 106672563 106672563 single base substitution A G intron_variant COCA-CN 4 106691527 106691527 single base substitution T C intron_variant COCA-CN 4 106743994 106743994 single base substitution A G intron_variant COCA-CN 4 106744053 106744053 single base substitution C G intron_variant COCA-CN 4 106744298 106744298 single base substitution T C intron_variant COCA-CN 4 106761245 106761245 single base substitution G A intron_variant EOPC-DE 4 106600679 106600679 single base substitution C T downstream_gene_variant EOPC-DE 4 106654295 106654295 single base substitution G A intron_variant EOPC-DE 4 106691527 106691527 single base substitution T C intron_variant EOPC-DE 4 106795717 106795717 single base substitution T G intron_variant ESAD-UK 4 106599207 106599209 deletion of <=200bp TGA - downstream_gene_variant ESAD-UK 4 106601815 106601815 single base substitution C T downstream_gene_variant ESAD-UK 4 106602320 106602320 single base substitution C G downstream_gene_variant ESAD-UK 4 106605420 106605420 single base substitution T C intron_variant ESAD-UK 4 106607586 106607586 single base substitution C A intron_variant ESAD-UK 4 106608248 106608248 single base substitution C A intron_variant ESAD-UK 4 106608248 106608248 single base substitution C A upstream_gene_variant ESAD-UK 4 106608274 106608274 single base substitution T A intron_variant ESAD-UK 4 106608274 106608274 single base substitution T A upstream_gene_variant ESAD-UK 4 106609632 106609632 single base substitution C A downstream_gene_variant ESAD-UK 4 106609632 106609632 single base substitution C A intron_variant ESAD-UK 4 106609632 106609632 single base substitution C A upstream_gene_variant ESAD-UK 4 106610995 106610995 single base substitution C G downstream_gene_variant ESAD-UK 4 106610995 106610995 single base substitution C G intron_variant ESAD-UK 4 106610995 106610995 single base substitution C G upstream_gene_variant ESAD-UK 4 106614174 106614174 single base substitution C G downstream_gene_variant ESAD-UK 4 106614174 106614174 single base substitution C G intron_variant ESAD-UK 4 106614207 106614207 single base substitution A C downstream_gene_variant ESAD-UK 4 106614207 106614207 single base substitution A C intron_variant ESAD-UK 4 106615026 106615026 single base substitution C G downstream_gene_variant ESAD-UK 4 106615026 106615026 single base substitution C G intron_variant ESAD-UK 4 106617384 106617384 single base substitution C G downstream_gene_variant ESAD-UK 4 106617384 106617384 single base substitution C G intron_variant ESAD-UK 4 106618489 106618489 single base substitution C A downstream_gene_variant ESAD-UK 4 106618489 106618489 single base substitution C A intron_variant ESAD-UK 4 106618567 106618567 single base substitution C G downstream_gene_variant ESAD-UK 4 106618567 106618567 single base substitution C G intron_variant ESAD-UK 4 106619249 106619249 insertion of <=200bp - C downstream_gene_variant ESAD-UK 4 106619249 106619249 insertion of <=200bp - C intron_variant ESAD-UK 4 106622553 106622553 single base substitution C T intron_variant ESAD-UK 4 106622742 106622742 single base substitution A C intron_variant ESAD-UK 4 106622911 106622911 single base substitution T G intron_variant ESAD-UK 4 106623362 106623362 single base substitution G A intron_variant ESAD-UK 4 106623615 106623615 insertion of <=200bp - T intron_variant ESAD-UK 4 106630966 106630966 single base substitution A T intron_variant ESAD-UK 4 106630966 106630966 single base substitution A T upstream_gene_variant ESAD-UK 4 106632444 106632444 insertion of <=200bp - A intron_variant ESAD-UK 4 106632444 106632444 insertion of <=200bp - A upstream_gene_variant ESAD-UK 4 106634068 106634068 single base substitution G A intron_variant ESAD-UK 4 106634068 106634068 single base substitution G A upstream_gene_variant ESAD-UK 4 106635829 106635829 single base substitution T A intron_variant ESAD-UK 4 106637707 106637707 single base substitution G A intron_variant ESAD-UK 4 106642964 106642964 single base substitution C T intron_variant ESAD-UK 4 106644211 106644211 single base substitution A G intron_variant ESAD-UK 4 106645918 106645918 single base substitution G A intron_variant ESAD-UK 4 106649530 106649530 single base substitution G T intron_variant ESAD-UK 4 106649811 106649811 single base substitution G C intron_variant ESAD-UK 4 106649923 106649923 single base substitution G T intron_variant ESAD-UK 4 106651964 106651964 single base substitution A C intron_variant ESAD-UK 4 106655104 106655104 single base substitution G C intron_variant ESAD-UK 4 106655180 106655180 single base substitution C G intron_variant ESAD-UK 4 106655822 106655824 deletion of <=200bp CTT - intron_variant ESAD-UK 4 106657608 106657608 single base substitution T C intron_variant ESAD-UK 4 106659786 106659786 single base substitution T C intron_variant ESAD-UK 4 106659805 106659805 single base substitution G T intron_variant ESAD-UK 4 106665862 106665862 single base substitution C G intron_variant ESAD-UK 4 106668152 106668152 single base substitution G C intron_variant ESAD-UK 4 106669229 106669229 single base substitution A G intron_variant ESAD-UK 4 106672001 106672001 single base substitution A C intron_variant ESAD-UK 4 106674874 106674874 single base substitution G T intron_variant ESAD-UK 4 106677722 106677723 deletion of <=200bp TG - intron_variant ESAD-UK 4 106679065 106679065 single base substitution C T intron_variant ESAD-UK 4 106681867 106681867 single base substitution G A intron_variant ESAD-UK 4 106686076 106686076 single base substitution C T intron_variant ESAD-UK 4 106686107 106686107 single base substitution A G intron_variant ESAD-UK 4 106686353 106686353 single base substitution A G intron_variant ESAD-UK 4 106691527 106691528 deletion of <=200bp TC - intron_variant ESAD-UK 4 106692561 106692561 single base substitution T C intron_variant ESAD-UK 4 106693407 106693407 single base substitution G A intron_variant ESAD-UK 4 106693616 106693616 single base substitution C A intron_variant ESAD-UK 4 106694011 106694011 single base substitution G A intron_variant ESAD-UK 4 106694844 106694844 single base substitution C G intron_variant ESAD-UK 4 106694975 106694975 single base substitution G T intron_variant ESAD-UK 4 106697544 106697544 deletion of <=200bp A - intron_variant ESAD-UK 4 106698804 106698804 single base substitution C G intron_variant ESAD-UK 4 106704152 106704152 single base substitution A T intron_variant ESAD-UK 4 106707926 106707926 single base substitution G T intron_variant ESAD-UK 4 106710853 106710853 single base substitution T A intron_variant ESAD-UK 4 106711993 106711993 single base substitution T A intron_variant ESAD-UK 4 106713507 106713507 deletion of <=200bp T - intron_variant ESAD-UK 4 106714331 106714331 single base substitution G A intron_variant ESAD-UK 4 106716193 106716193 single base substitution A G intron_variant ESAD-UK 4 106716308 106716308 single base substitution C T intron_variant ESAD-UK 4 106723948 106723948 single base substitution C T intron_variant ESAD-UK 4 106724687 106724687 single base substitution A C intron_variant ESAD-UK 4 106727034 106727034 insertion of <=200bp - TT intron_variant ESAD-UK 4 106730618 106730618 single base substitution T C intron_variant ESAD-UK 4 106730761 106730761 single base substitution A T intron_variant ESAD-UK 4 106730872 106730888 deletion of <=200bp TCTTAGTATTCTATTAA - intron_variant ESAD-UK 4 106731447 106731447 single base substitution A T intron_variant ESAD-UK 4 106731705 106731705 single base substitution G C intron_variant ESAD-UK 4 106732821 106732821 single base substitution T C intron_variant ESAD-UK 4 106733410 106733410 single base substitution A G intron_variant ESAD-UK 4 106734255 106734255 single base substitution C T intron_variant ESAD-UK 4 106734772 106734772 single base substitution C A intron_variant ESAD-UK 4 106735358 106735358 single base substitution T A intron_variant ESAD-UK 4 106735886 106735886 single base substitution G A intron_variant ESAD-UK 4 106736543 106736543 single base substitution A G intron_variant ESAD-UK 4 106736763 106736763 single base substitution C T intron_variant ESAD-UK 4 106737157 106737157 single base substitution A T intron_variant ESAD-UK 4 106739067 106739067 single base substitution G A intron_variant ESAD-UK 4 106739247 106739247 single base substitution C G intron_variant ESAD-UK 4 106742862 106742862 single base substitution C T intron_variant ESAD-UK 4 106745054 106745054 single base substitution C T intron_variant ESAD-UK 4 106745404 106745404 single base substitution C T intron_variant ESAD-UK 4 106745599 106745599 single base substitution G C intron_variant ESAD-UK 4 106746309 106746309 single base substitution C A intron_variant ESAD-UK 4 106746422 106746422 single base substitution G A intron_variant ESAD-UK 4 106747532 106747532 single base substitution A C intron_variant ESAD-UK 4 106749139 106749139 single base substitution G T intron_variant ESAD-UK 4 106750318 106750318 single base substitution A G intron_variant ESAD-UK 4 106751079 106751079 deletion of <=200bp T - intron_variant ESAD-UK 4 106752046 106752046 deletion of <=200bp A - intron_variant ESAD-UK 4 106753420 106753420 single base substitution T G intron_variant ESAD-UK 4 106753770 106753770 single base substitution C T intron_variant ESAD-UK 4 106755562 106755562 single base substitution A C intron_variant ESAD-UK 4 106755575 106755575 single base substitution G A intron_variant ESAD-UK 4 106757514 106757514 single base substitution A C intron_variant ESAD-UK 4 106758817 106758817 single base substitution T A intron_variant ESAD-UK 4 106768165 106768165 single base substitution G C intron_variant ESAD-UK 4 106772278 106772278 single base substitution G A intron_variant ESAD-UK 4 106777320 106777320 insertion of <=200bp - T intron_variant ESAD-UK 4 106781650 106781650 single base substitution G C intron_variant ESAD-UK 4 106783587 106783587 deletion of <=200bp A - intron_variant ESAD-UK 4 106791455 106791455 insertion of <=200bp - A intron_variant ESAD-UK 4 106793012 106793012 single base substitution G A intron_variant ESAD-UK 4 106794777 106794777 single base substitution T C intron_variant ESAD-UK 4 106795631 106795631 deletion of <=200bp A - intron_variant ESAD-UK 4 106796312 106796312 insertion of <=200bp - A intron_variant ESAD-UK 4 106797545 106797545 single base substitution G A intron_variant ESAD-UK 4 106799047 106799047 single base substitution C A intron_variant ESAD-UK 4 106802492 106802492 single base substitution T A intron_variant ESAD-UK 4 106802794 106802794 single base substitution A C intron_variant ESAD-UK 4 106803596 106803596 single base substitution G A intron_variant ESAD-UK 4 106807247 106807247 single base substitution G T intron_variant ESAD-UK 4 106808743 106808743 single base substitution T G intron_variant ESAD-UK 4 106810996 106810996 single base substitution C T intron_variant ESAD-UK 4 106811132 106811132 single base substitution A G intron_variant ESAD-UK 4 106812554 106812554 single base substitution A G intron_variant ESAD-UK 4 106815506 106815506 insertion of <=200bp - G intron_variant ESAD-UK 4 106817287 106817287 single base substitution G A upstream_gene_variant ESAD-UK 4 106817294 106817294 single base substitution G T upstream_gene_variant ESAD-UK 4 106817559 106817570 deletion of <=200bp CTCGGGCCGCGT - upstream_gene_variant ESAD-UK 4 106820996 106820996 single base substitution C G upstream_gene_variant GBM-US 4 106604288 106604288 single base substitution C T exon_variant GBM-US 4 106604288 106604288 single base substitution C T missense_variant V331M 991G>A KIRC-US 4 106638847 106638847 single base substitution T G intron_variant KIRC-US 4 106766678 106766678 single base substitution A C intron_variant LAML-KR 4 106616961 106616961 single base substitution G C downstream_gene_variant LAML-KR 4 106616961 106616961 single base substitution G C intron_variant LAML-KR 4 106757149 106757149 single base substitution C T intron_variant LAML-KR 4 106757215 106757215 single base substitution G A intron_variant LAML-KR 4 106757243 106757243 single base substitution T C intron_variant LAML-KR 4 106757296 106757296 single base substitution T C intron_variant LICA-CN 4 106603944 106603944 single base substitution C A downstream_gene_variant LICA-CN 4 106603944 106603944 single base substitution C A missense_variant M445I 1335G>T LICA-FR 4 106611936 106611936 single base substitution T A downstream_gene_variant LICA-FR 4 106611936 106611936 single base substitution T A intron_variant LICA-FR 4 106611936 106611936 single base substitution T A upstream_gene_variant LICA-FR 4 106618363 106618363 single base substitution A T downstream_gene_variant LICA-FR 4 106618363 106618363 single base substitution A T intron_variant LICA-FR 4 106619820 106619820 single base substitution G C downstream_gene_variant LICA-FR 4 106619820 106619820 single base substitution G C intron_variant LICA-FR 4 106621142 106621142 single base substitution C T synonymous_variant L20L 60G>A LICA-FR 4 106621142 106621142 single base substitution C T synonymous_variant L7L 21G>A LICA-FR 4 106627412 106627412 deletion of <=200bp T - intron_variant LICA-FR 4 106628474 106628474 insertion of <=200bp - T intron_variant LICA-FR 4 106637522 106637522 single base substitution G A intron_variant LICA-FR 4 106648470 106648470 single base substitution C G intron_variant LICA-FR 4 106669882 106669882 single base substitution A G intron_variant LICA-FR 4 106672695 106672695 single base substitution C G intron_variant LICA-FR 4 106683616 106683616 single base substitution A G intron_variant LICA-FR 4 106690391 106690400 deletion of <=200bp CACACACACA - intron_variant LICA-FR 4 106690391 106690402 deletion of <=200bp CACACACACACA - intron_variant LICA-FR 4 106714577 106714577 single base substitution A T intron_variant LICA-FR 4 106716665 106716665 single base substitution T G intron_variant LICA-FR 4 106719214 106719214 single base substitution A G intron_variant LICA-FR 4 106723943 106723943 single base substitution T C intron_variant LICA-FR 4 106723966 106723966 single base substitution A C intron_variant LICA-FR 4 106732171 106732171 single base substitution T C intron_variant LICA-FR 4 106744492 106744492 single base substitution A T intron_variant LICA-FR 4 106748329 106748329 single base substitution C A intron_variant LICA-FR 4 106766309 106766309 single base substitution G C intron_variant LICA-FR 4 106774937 106774937 single base substitution C G intron_variant LICA-FR 4 106775877 106775877 single base substitution G T intron_variant LICA-FR 4 106775878 106775878 single base substitution G T intron_variant LICA-FR 4 106778734 106778734 single base substitution G A intron_variant LICA-FR 4 106792232 106792232 single base substitution G T intron_variant LICA-FR 4 106798880 106798880 insertion of <=200bp - G intron_variant LICA-FR 4 106808265 106808265 insertion of <=200bp - A intron_variant LICA-FR 4 106813333 106813333 single base substitution G A intron_variant LICA-FR 4 106816867 106816867 single base substitution G C intron_variant LIHC-US 4 106603913 106603913 single base substitution C A downstream_gene_variant LIHC-US 4 106603913 106603913 single base substitution C A missense_variant A456S 1366G>T LIHC-US 4 106647833 106647833 single base substitution C T intron_variant LIHC-US 4 106650634 106650634 single base substitution T C intron_variant LIHC-US 4 106766665 106766665 single base substitution T C intron_variant LINC-JP 4 106603919 106603919 single base substitution T C downstream_gene_variant LINC-JP 4 106603919 106603919 single base substitution T C missense_variant K454E 1360A>G LINC-JP 4 106605042 106605042 single base substitution A G intron_variant LINC-JP 4 106607986 106607986 single base substitution T C exon_variant LINC-JP 4 106607986 106607986 single base substitution T C missense_variant T223A 667A>G LINC-JP 4 106608048 106608048 single base substitution A T exon_variant LINC-JP 4 106608048 106608048 single base substitution A T intron_variant LINC-JP 4 106608240 106608240 single base substitution T A intron_variant LINC-JP 4 106608240 106608240 single base substitution T A upstream_gene_variant LINC-JP 4 106617272 106617272 single base substitution T C downstream_gene_variant LINC-JP 4 106617272 106617272 single base substitution T C intron_variant LINC-JP 4 106626214 106626214 single base substitution G A intron_variant LINC-JP 4 106628474 106628474 deletion of <=200bp T - intron_variant LINC-JP 4 106638997 106638997 single base substitution T A intron_variant LINC-JP 4 106640660 106640660 single base substitution C T intron_variant LINC-JP 4 106641321 106641324 deletion of <=200bp TCTG - intron_variant LINC-JP 4 106668435 106668435 insertion of <=200bp - AGAT intron_variant LINC-JP 4 106700934 106700934 single base substitution C G intron_variant LINC-JP 4 106705674 106705674 single base substitution A G intron_variant LINC-JP 4 106713958 106713958 single base substitution C A intron_variant LINC-JP 4 106718968 106718968 single base substitution A G intron_variant LINC-JP 4 106724432 106724432 single base substitution T C intron_variant LINC-JP 4 106729721 106729721 single base substitution A G intron_variant LINC-JP 4 106732008 106732008 single base substitution T C intron_variant LINC-JP 4 106738772 106738772 single base substitution A G intron_variant LINC-JP 4 106766870 106766870 single base substitution G A intron_variant LINC-JP 4 106782259 106782259 single base substitution A G intron_variant LINC-JP 4 106784002 106784002 single base substitution A G intron_variant LINC-JP 4 106787896 106787896 single base substitution C G intron_variant LINC-JP 4 106798812 106798812 single base substitution T C intron_variant LINC-JP 4 106815087 106815087 single base substitution T A intron_variant LINC-JP 4 106816630 106816630 single base substitution G A intron_variant LINC-JP 4 106817063 106817063 single base substitution G T 5_prime_UTR_variant LINC-JP 4 106819053 106819053 single base substitution G A upstream_gene_variant LINC-JP 4 106821039 106821039 single base substitution A G upstream_gene_variant LIRI-JP 4 106598987 106598987 single base substitution C T downstream_gene_variant LIRI-JP 4 106600262 106600262 single base substitution G A downstream_gene_variant LIRI-JP 4 106600628 106600628 single base substitution T C downstream_gene_variant LIRI-JP 4 106602297 106602297 single base substitution T C downstream_gene_variant LIRI-JP 4 106602954 106602954 single base substitution T C downstream_gene_variant LIRI-JP 4 106604082 106604082 single base substitution G A downstream_gene_variant LIRI-JP 4 106604082 106604082 single base substitution G A synonymous_variant S399S 1197C>T LIRI-JP 4 106604329 106604329 single base substitution T C exon_variant LIRI-JP 4 106604329 106604329 single base substitution T C missense_variant N317S 950A>G LIRI-JP 4 106604739 106604739 single base substitution T C intron_variant LIRI-JP 4 106604863 106604863 single base substitution C T intron_variant LIRI-JP 4 106606778 106606778 single base substitution T G intron_variant LIRI-JP 4 106607058 106607058 single base substitution T C intron_variant LIRI-JP 4 106607212 106607212 single base substitution A T intron_variant LIRI-JP 4 106607960 106607960 single base substitution G A exon_variant LIRI-JP 4 106607960 106607960 single base substitution G A synonymous_variant A231A 693C>T LIRI-JP 4 106609357 106609357 single base substitution T C intron_variant LIRI-JP 4 106609357 106609357 single base substitution T C upstream_gene_variant LIRI-JP 4 106609755 106609755 single base substitution T G downstream_gene_variant LIRI-JP 4 106609755 106609755 single base substitution T G intron_variant LIRI-JP 4 106609755 106609755 single base substitution T G upstream_gene_variant LIRI-JP 4 106610171 106610171 single base substitution C T downstream_gene_variant LIRI-JP 4 106610171 106610171 single base substitution C T intron_variant LIRI-JP 4 106610171 106610171 single base substitution C T upstream_gene_variant LIRI-JP 4 106611183 106611183 single base substitution T C downstream_gene_variant LIRI-JP 4 106611183 106611183 single base substitution T C intron_variant LIRI-JP 4 106611183 106611183 single base substitution T C upstream_gene_variant LIRI-JP 4 106611357 106611360 deletion of <=200bp GAGA - downstream_gene_variant LIRI-JP 4 106611357 106611360 deletion of <=200bp GAGA - intron_variant LIRI-JP 4 106611357 106611360 deletion of <=200bp GAGA - upstream_gene_variant LIRI-JP 4 106611914 106611914 single base substitution T A downstream_gene_variant LIRI-JP 4 106611914 106611914 single base substitution T A intron_variant LIRI-JP 4 106611914 106611914 single base substitution T A upstream_gene_variant LIRI-JP 4 106613897 106613897 single base substitution A T downstream_gene_variant LIRI-JP 4 106613897 106613897 single base substitution A T intron_variant LIRI-JP 4 106615789 106615789 single base substitution C A downstream_gene_variant LIRI-JP 4 106615789 106615789 single base substitution C A intron_variant LIRI-JP 4 106617830 106617830 single base substitution T C downstream_gene_variant LIRI-JP 4 106617830 106617830 single base substitution T C intron_variant LIRI-JP 4 106619739 106619739 single base substitution C A downstream_gene_variant LIRI-JP 4 106619739 106619739 single base substitution C A intron_variant LIRI-JP 4 106619748 106619748 single base substitution G C downstream_gene_variant LIRI-JP 4 106619748 106619748 single base substitution G C intron_variant LIRI-JP 4 106620896 106620896 single base substitution T A downstream_gene_variant LIRI-JP 4 106620896 106620896 single base substitution T A intron_variant LIRI-JP 4 106623918 106623918 single base substitution C A intron_variant LIRI-JP 4 106624115 106624115 single base substitution A C 5_prime_UTR_variant LIRI-JP 4 106624115 106624115 single base substitution A C intron_variant LIRI-JP 4 106625701 106625701 single base substitution C A intron_variant LIRI-JP 4 106627270 106627270 single base substitution T A intron_variant LIRI-JP 4 106629303 106629303 single base substitution T G 5_prime_UTR_variant LIRI-JP 4 106629303 106629303 single base substitution T G intron_variant LIRI-JP 4 106629303 106629303 single base substitution T G upstream_gene_variant LIRI-JP 4 106630257 106630257 single base substitution G A 5_prime_UTR_variant LIRI-JP 4 106630257 106630257 single base substitution G A intron_variant LIRI-JP 4 106630257 106630257 single base substitution G A upstream_gene_variant LIRI-JP 4 106636609 106636609 deletion of <=200bp T - intron_variant LIRI-JP 4 106638441 106638441 single base substitution A G intron_variant LIRI-JP 4 106641881 106641881 single base substitution A G intron_variant LIRI-JP 4 106644265 106644265 single base substitution A C intron_variant LIRI-JP 4 106644807 106644807 single base substitution G T intron_variant LIRI-JP 4 106645888 106645888 single base substitution A T intron_variant LIRI-JP 4 106650229 106650229 single base substitution T C intron_variant LIRI-JP 4 106652502 106652502 single base substitution G C intron_variant LIRI-JP 4 106654075 106654075 single base substitution A T intron_variant LIRI-JP 4 106655370 106655370 single base substitution C T intron_variant LIRI-JP 4 106657885 106657885 single base substitution C T intron_variant LIRI-JP 4 106658549 106658549 single base substitution G T intron_variant LIRI-JP 4 106661672 106661672 single base substitution A T intron_variant LIRI-JP 4 106662599 106662599 single base substitution G A intron_variant LIRI-JP 4 106663626 106663626 single base substitution A G intron_variant LIRI-JP 4 106664253 106664253 single base substitution C G intron_variant LIRI-JP 4 106664459 106664459 single base substitution A G intron_variant LIRI-JP 4 106665496 106665496 single base substitution A G intron_variant LIRI-JP 4 106666850 106666850 single base substitution T C intron_variant LIRI-JP 4 106673891 106673891 single base substitution A G intron_variant LIRI-JP 4 106674313 106674313 single base substitution G A intron_variant LIRI-JP 4 106675421 106675421 single base substitution T C intron_variant LIRI-JP 4 106676273 106676273 single base substitution T A intron_variant LIRI-JP 4 106677573 106677573 single base substitution A G intron_variant LIRI-JP 4 106677798 106677798 single base substitution C T intron_variant LIRI-JP 4 106677974 106677974 single base substitution G A intron_variant LIRI-JP 4 106679157 106679157 single base substitution G T intron_variant LIRI-JP 4 106679389 106679389 single base substitution A G intron_variant LIRI-JP 4 106679457 106679457 single base substitution A G intron_variant LIRI-JP 4 106681116 106681116 single base substitution C A intron_variant LIRI-JP 4 106686116 106686116 single base substitution A G intron_variant LIRI-JP 4 106689543 106689543 single base substitution A G intron_variant LIRI-JP 4 106690713 106690713 single base substitution G A intron_variant LIRI-JP 4 106695030 106695030 single base substitution G A intron_variant LIRI-JP 4 106695704 106695704 single base substitution T A intron_variant LIRI-JP 4 106697676 106697676 single base substitution A T intron_variant LIRI-JP 4 106700567 106700567 single base substitution A G intron_variant LIRI-JP 4 106701635 106701635 single base substitution C A intron_variant LIRI-JP 4 106706298 106706298 single base substitution T C intron_variant LIRI-JP 4 106708338 106708338 single base substitution G C intron_variant LIRI-JP 4 106709944 106709944 single base substitution T C intron_variant LIRI-JP 4 106715896 106715896 single base substitution G A intron_variant LIRI-JP 4 106720197 106720197 single base substitution C T intron_variant LIRI-JP 4 106723185 106723185 single base substitution A G intron_variant LIRI-JP 4 106723222 106723222 single base substitution A G intron_variant LIRI-JP 4 106723465 106723465 single base substitution G A intron_variant LIRI-JP 4 106724999 106724999 single base substitution A G intron_variant LIRI-JP 4 106726914 106726914 single base substitution A C intron_variant LIRI-JP 4 106730339 106730339 single base substitution A C intron_variant LIRI-JP 4 106730405 106730405 single base substitution A T intron_variant LIRI-JP 4 106731266 106731266 single base substitution C G intron_variant LIRI-JP 4 106732355 106732355 single base substitution A G intron_variant LIRI-JP 4 106732426 106732426 single base substitution C G intron_variant LIRI-JP 4 106735663 106735663 single base substitution G A intron_variant LIRI-JP 4 106735822 106735822 single base substitution T A intron_variant LIRI-JP 4 106737067 106737067 single base substitution A G intron_variant LIRI-JP 4 106740545 106740545 single base substitution A G intron_variant LIRI-JP 4 106741439 106741439 single base substitution C T intron_variant LIRI-JP 4 106752642 106752642 single base substitution A C intron_variant LIRI-JP 4 106754890 106754890 single base substitution A G intron_variant LIRI-JP 4 106757464 106757464 single base substitution A T intron_variant LIRI-JP 4 106758105 106758105 single base substitution A G intron_variant LIRI-JP 4 106760028 106760028 single base substitution A G intron_variant LIRI-JP 4 106762449 106762449 single base substitution G C intron_variant LIRI-JP 4 106763924 106763924 single base substitution A G intron_variant LIRI-JP 4 106764088 106764088 single base substitution T C intron_variant LIRI-JP 4 106764971 106764971 single base substitution G C intron_variant LIRI-JP 4 106764987 106764987 single base substitution G A intron_variant LIRI-JP 4 106765161 106765161 single base substitution A T intron_variant LIRI-JP 4 106765249 106765249 single base substitution A G intron_variant LIRI-JP 4 106767059 106767059 single base substitution A T intron_variant LIRI-JP 4 106768135 106768135 single base substitution A G intron_variant LIRI-JP 4 106769619 106769619 single base substitution T G intron_variant LIRI-JP 4 106773625 106773625 single base substitution T G intron_variant LIRI-JP 4 106775097 106775097 single base substitution G A intron_variant LIRI-JP 4 106778033 106778033 single base substitution A C intron_variant LIRI-JP 4 106780495 106780495 single base substitution T C intron_variant LIRI-JP 4 106781791 106781791 single base substitution G A intron_variant LIRI-JP 4 106782100 106782100 single base substitution C G intron_variant LIRI-JP 4 106783738 106783738 single base substitution A G intron_variant LIRI-JP 4 106785277 106785277 single base substitution A G intron_variant LIRI-JP 4 106786686 106786686 single base substitution A T intron_variant LIRI-JP 4 106790036 106790036 single base substitution A G intron_variant LIRI-JP 4 106790309 106790309 single base substitution T C intron_variant LIRI-JP 4 106791383 106791383 single base substitution C A intron_variant LIRI-JP 4 106792248 106792248 single base substitution C T intron_variant LIRI-JP 4 106792471 106792471 single base substitution T C intron_variant LIRI-JP 4 106793107 106793107 single base substitution C A intron_variant LIRI-JP 4 106795601 106795601 single base substitution A T intron_variant LIRI-JP 4 106797790 106797790 single base substitution A G intron_variant LIRI-JP 4 106799388 106799388 single base substitution A G intron_variant LIRI-JP 4 106799606 106799606 single base substitution C G intron_variant LIRI-JP 4 106800179 106800179 single base substitution T C intron_variant LIRI-JP 4 106800316 106800316 single base substitution G A intron_variant LIRI-JP 4 106801480 106801480 single base substitution G A intron_variant LIRI-JP 4 106803500 106803500 single base substitution A G intron_variant LIRI-JP 4 106803709 106803709 single base substitution G A intron_variant LIRI-JP 4 106804709 106804709 single base substitution A G intron_variant LIRI-JP 4 106806908 106806908 single base substitution A G intron_variant LIRI-JP 4 106808773 106808773 single base substitution A G intron_variant LIRI-JP 4 106810107 106810107 single base substitution T C intron_variant LIRI-JP 4 106810269 106810269 single base substitution A T intron_variant LIRI-JP 4 106811521 106811521 single base substitution T G intron_variant LIRI-JP 4 106811631 106811631 single base substitution G A intron_variant LIRI-JP 4 106812370 106812370 single base substitution A G intron_variant LIRI-JP 4 106812947 106812947 single base substitution T A intron_variant LIRI-JP 4 106813919 106813919 single base substitution T A intron_variant LIRI-JP 4 106814706 106814706 single base substitution C A intron_variant LIRI-JP 4 106818266 106818266 single base substitution A C upstream_gene_variant LIRI-JP 4 106818396 106818396 single base substitution T A upstream_gene_variant LIRI-JP 4 106819336 106819336 single base substitution C T upstream_gene_variant LIRI-JP 4 106821283 106821283 single base substitution T C upstream_gene_variant LUSC-KR 4 106600838 106600838 single base substitution G A downstream_gene_variant LUSC-KR 4 106606312 106606312 single base substitution G A intron_variant LUSC-KR 4 106608239 106608239 single base substitution G A intron_variant LUSC-KR 4 106608239 106608239 single base substitution G A upstream_gene_variant LUSC-KR 4 106612123 106612123 single base substitution G A downstream_gene_variant LUSC-KR 4 106612123 106612123 single base substitution G A intron_variant LUSC-KR 4 106612123 106612123 single base substitution G A upstream_gene_variant LUSC-KR 4 106621169 106621169 single base substitution C T splice_region_variant LUSC-KR 4 106621240 106621240 single base substitution C T intron_variant LUSC-KR 4 106624947 106624947 single base substitution G A 5_prime_UTR_variant LUSC-KR 4 106624947 106624947 single base substitution G A intron_variant LUSC-KR 4 106629057 106629057 single base substitution G T intron_variant LUSC-KR 4 106629950 106629950 single base substitution C G 5_prime_UTR_variant LUSC-KR 4 106629950 106629950 single base substitution C G intron_variant LUSC-KR 4 106629950 106629950 single base substitution C G upstream_gene_variant LUSC-KR 4 106629979 106629979 single base substitution C A 5_prime_UTR_variant LUSC-KR 4 106629979 106629979 single base substitution C A intron_variant LUSC-KR 4 106629979 106629979 single base substitution C A upstream_gene_variant LUSC-KR 4 106630030 106630030 single base substitution G C 5_prime_UTR_variant LUSC-KR 4 106630030 106630030 single base substitution G C intron_variant LUSC-KR 4 106630030 106630030 single base substitution G C upstream_gene_variant LUSC-KR 4 106630179 106630179 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 4 106630179 106630179 single base substitution G C intron_variant LUSC-KR 4 106630179 106630179 single base substitution G C upstream_gene_variant LUSC-KR 4 106638222 106638222 single base substitution G C intron_variant LUSC-KR 4 106640184 106640184 single base substitution C A intron_variant LUSC-KR 4 106647800 106647800 single base substitution A G intron_variant LUSC-KR 4 106652051 106652051 single base substitution C T intron_variant LUSC-KR 4 106653602 106653602 single base substitution T C intron_variant LUSC-KR 4 106656308 106656308 single base substitution C A intron_variant LUSC-KR 4 106657588 106657588 single base substitution C T intron_variant LUSC-KR 4 106659369 106659369 single base substitution C T intron_variant LUSC-KR 4 106661228 106661228 single base substitution A G intron_variant LUSC-KR 4 106662346 106662346 single base substitution C T intron_variant LUSC-KR 4 106665871 106665871 single base substitution C T intron_variant LUSC-KR 4 106668882 106668882 single base substitution A T intron_variant LUSC-KR 4 106674745 106674745 single base substitution T A intron_variant LUSC-KR 4 106674754 106674754 single base substitution G T intron_variant LUSC-KR 4 106678998 106678998 single base substitution C G intron_variant LUSC-KR 4 106680796 106680796 single base substitution G C intron_variant LUSC-KR 4 106693202 106693202 single base substitution C G intron_variant LUSC-KR 4 106693895 106693895 single base substitution G A intron_variant LUSC-KR 4 106694828 106694828 single base substitution G C intron_variant LUSC-KR 4 106707706 106707706 single base substitution G A intron_variant LUSC-KR 4 106713851 106713851 single base substitution C T intron_variant LUSC-KR 4 106716046 106716046 single base substitution A G intron_variant LUSC-KR 4 106720298 106720298 single base substitution T C intron_variant LUSC-KR 4 106740784 106740784 single base substitution G T intron_variant LUSC-KR 4 106742109 106742109 single base substitution A G intron_variant LUSC-KR 4 106744324 106744324 single base substitution G T intron_variant LUSC-KR 4 106747743 106747743 single base substitution G A intron_variant LUSC-KR 4 106757243 106757243 single base substitution T C intron_variant LUSC-KR 4 106765221 106765221 single base substitution G C intron_variant LUSC-KR 4 106770764 106770764 single base substitution G C intron_variant LUSC-KR 4 106772845 106772845 single base substitution T G intron_variant LUSC-KR 4 106774148 106774148 single base substitution G T intron_variant LUSC-KR 4 106775255 106775255 single base substitution T C intron_variant LUSC-KR 4 106775373 106775373 single base substitution A T intron_variant LUSC-KR 4 106776593 106776593 single base substitution A G intron_variant LUSC-KR 4 106777045 106777045 single base substitution A T intron_variant LUSC-KR 4 106783420 106783420 single base substitution G T intron_variant LUSC-KR 4 106785544 106785544 single base substitution A G intron_variant LUSC-KR 4 106785837 106785837 single base substitution G A intron_variant LUSC-KR 4 106790159 106790159 single base substitution T A intron_variant LUSC-KR 4 106798179 106798179 single base substitution G A intron_variant LUSC-KR 4 106802751 106802751 single base substitution A G intron_variant LUSC-KR 4 106809522 106809522 single base substitution G A intron_variant LUSC-KR 4 106810185 106810185 single base substitution C T intron_variant LUSC-KR 4 106822095 106822095 single base substitution C T upstream_gene_variant LUSC-US 4 106647744 106647744 single base substitution C A intron_variant MALY-DE 4 106601830 106601831 deletion of <=200bp TA - downstream_gene_variant MALY-DE 4 106608044 106608044 single base substitution A T exon_variant MALY-DE 4 106608044 106608044 single base substitution A T intron_variant MALY-DE 4 106610770 106610770 single base substitution C T downstream_gene_variant MALY-DE 4 106610770 106610770 single base substitution C T intron_variant MALY-DE 4 106610770 106610770 single base substitution C T upstream_gene_variant MALY-DE 4 106621769 106621769 single base substitution T A intron_variant MALY-DE 4 106621974 106621974 single base substitution T G intron_variant MALY-DE 4 106624162 106624162 single base substitution T C 5_prime_UTR_variant MALY-DE 4 106624162 106624162 single base substitution T C intron_variant MALY-DE 4 106629771 106629771 single base substitution G A 5_prime_UTR_variant MALY-DE 4 106629771 106629771 single base substitution G A intron_variant MALY-DE 4 106629771 106629771 single base substitution G A upstream_gene_variant MALY-DE 4 106637292 106637292 single base substitution T G intron_variant MALY-DE 4 106643335 106643335 insertion of <=200bp - AC intron_variant MALY-DE 4 106643335 106643336 deletion of <=200bp AC - intron_variant MALY-DE 4 106643969 106643969 single base substitution T C intron_variant MALY-DE 4 106650370 106650370 single base substitution A C intron_variant MALY-DE 4 106653971 106653971 single base substitution T C intron_variant MALY-DE 4 106656457 106656457 single base substitution C T intron_variant MALY-DE 4 106666097 106666097 single base substitution C A intron_variant MALY-DE 4 106671633 106671633 single base substitution A G intron_variant MALY-DE 4 106686995 106686995 single base substitution G T intron_variant MALY-DE 4 106688556 106688556 single base substitution A C intron_variant MALY-DE 4 106692026 106692026 single base substitution T G intron_variant MALY-DE 4 106698087 106698087 deletion of <=200bp A - intron_variant MALY-DE 4 106698452 106698453 deletion of <=200bp TA - intron_variant MALY-DE 4 106711802 106711802 single base substitution C T intron_variant MALY-DE 4 106713949 106713949 single base substitution G C intron_variant MALY-DE 4 106716201 106716201 single base substitution T G intron_variant MALY-DE 4 106716781 106716781 single base substitution C T intron_variant MALY-DE 4 106721210 106721210 single base substitution A G intron_variant MALY-DE 4 106722634 106722634 single base substitution A C intron_variant MALY-DE 4 106730268 106730268 single base substitution G T intron_variant MALY-DE 4 106731613 106731613 single base substitution G T intron_variant MALY-DE 4 106731674 106731674 deletion of <=200bp A - intron_variant MALY-DE 4 106732072 106732072 insertion of <=200bp - A intron_variant MALY-DE 4 106739437 106739437 single base substitution T A intron_variant MALY-DE 4 106739511 106739511 single base substitution G T intron_variant MALY-DE 4 106768147 106768147 single base substitution C T intron_variant MALY-DE 4 106770918 106770918 single base substitution G A intron_variant MALY-DE 4 106773076 106773076 single base substitution T C intron_variant MALY-DE 4 106787393 106787393 insertion of <=200bp - AATA intron_variant MALY-DE 4 106788093 106788093 single base substitution G T intron_variant MALY-DE 4 106790128 106790128 single base substitution T C intron_variant MALY-DE 4 106794284 106794284 single base substitution G A intron_variant MALY-DE 4 106800344 106800345 deletion of <=200bp GA - intron_variant MALY-DE 4 106805802 106805805 deletion of <=200bp ACAA - intron_variant MALY-DE 4 106811356 106811356 single base substitution A C intron_variant MALY-DE 4 106817592 106817592 single base substitution C T upstream_gene_variant MALY-DE 4 106819448 106819449 deletion of <=200bp TC - upstream_gene_variant MELA-AU 4 106599671 106599671 single base substitution C T downstream_gene_variant MELA-AU 4 106600087 106600087 single base substitution G A downstream_gene_variant MELA-AU 4 106601192 106601192 single base substitution C T downstream_gene_variant MELA-AU 4 106601616 106601616 single base substitution G A downstream_gene_variant MELA-AU 4 106602213 106602213 single base substitution G A downstream_gene_variant MELA-AU 4 106603715 106603715 single base substitution G A downstream_gene_variant MELA-AU 4 106603999 106603999 single base substitution G A downstream_gene_variant MELA-AU 4 106603999 106603999 single base substitution G A missense_variant S427F 1280C>T MELA-AU 4 106604308 106604308 single base substitution G A exon_variant MELA-AU 4 106604308 106604308 single base substitution G A missense_variant S324L 971C>T MELA-AU 4 106604637 106604637 single base substitution G A intron_variant MELA-AU 4 106604860 106604860 single base substitution G A intron_variant MELA-AU 4 106604923 106604923 single base substitution G A intron_variant MELA-AU 4 106605813 106605813 single base substitution G A intron_variant MELA-AU 4 106605860 106605860 single base substitution G A intron_variant MELA-AU 4 106606011 106606011 single base substitution G A intron_variant MELA-AU 4 106606655 106606655 single base substitution G A intron_variant MELA-AU 4 106606983 106606983 single base substitution G A intron_variant MELA-AU 4 106607547 106607547 single base substitution G A intron_variant MELA-AU 4 106608085 106608085 single base substitution G A exon_variant MELA-AU 4 106608085 106608085 single base substitution G A intron_variant MELA-AU 4 106608250 106608250 deletion of <=200bp T - intron_variant MELA-AU 4 106608250 106608250 deletion of <=200bp T - upstream_gene_variant MELA-AU 4 106609392 106609392 single base substitution A T intron_variant MELA-AU 4 106609392 106609392 single base substitution A T upstream_gene_variant MELA-AU 4 106611230 106611230 single base substitution C T downstream_gene_variant MELA-AU 4 106611230 106611230 single base substitution C T intron_variant MELA-AU 4 106611230 106611230 single base substitution C T upstream_gene_variant MELA-AU 4 106611295 106611295 single base substitution G A downstream_gene_variant MELA-AU 4 106611295 106611295 single base substitution G A intron_variant MELA-AU 4 106611295 106611295 single base substitution G A upstream_gene_variant MELA-AU 4 106612048 106612048 single base substitution C T downstream_gene_variant MELA-AU 4 106612048 106612048 single base substitution C T intron_variant MELA-AU 4 106612048 106612048 single base substitution C T upstream_gene_variant MELA-AU 4 106612446 106612446 single base substitution A G downstream_gene_variant MELA-AU 4 106612446 106612446 single base substitution A G intron_variant MELA-AU 4 106612446 106612446 single base substitution A G upstream_gene_variant MELA-AU 4 106613433 106613433 single base substitution G A downstream_gene_variant MELA-AU 4 106613433 106613433 single base substitution G A intron_variant MELA-AU 4 106613460 106613460 single base substitution G A downstream_gene_variant MELA-AU 4 106613460 106613460 single base substitution G A intron_variant MELA-AU 4 106613576 106613576 single base substitution C T downstream_gene_variant MELA-AU 4 106613576 106613576 single base substitution C T intron_variant MELA-AU 4 106614255 106614256 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 106614255 106614256 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 106615289 106615289 single base substitution T G downstream_gene_variant MELA-AU 4 106615289 106615289 single base substitution T G intron_variant MELA-AU 4 106615360 106615360 single base substitution G A downstream_gene_variant MELA-AU 4 106615360 106615360 single base substitution G A intron_variant MELA-AU 4 106615645 106615645 single base substitution G A downstream_gene_variant MELA-AU 4 106615645 106615645 single base substitution G A intron_variant MELA-AU 4 106615695 106615695 single base substitution G A downstream_gene_variant MELA-AU 4 106615695 106615695 single base substitution G A intron_variant MELA-AU 4 106616248 106616248 single base substitution G A downstream_gene_variant MELA-AU 4 106616248 106616248 single base substitution G A intron_variant MELA-AU 4 106616803 106616803 single base substitution G A downstream_gene_variant MELA-AU 4 106616803 106616803 single base substitution G A missense_variant S60L 179C>T MELA-AU 4 106616835 106616835 single base substitution G A downstream_gene_variant MELA-AU 4 106616835 106616835 single base substitution G A intron_variant MELA-AU 4 106617278 106617278 single base substitution G A downstream_gene_variant MELA-AU 4 106617278 106617278 single base substitution G A intron_variant MELA-AU 4 106617292 106617292 single base substitution A T downstream_gene_variant MELA-AU 4 106617292 106617292 single base substitution A T intron_variant MELA-AU 4 106617879 106617879 single base substitution T A downstream_gene_variant MELA-AU 4 106617879 106617879 single base substitution T A intron_variant MELA-AU 4 106618193 106618193 single base substitution G A downstream_gene_variant MELA-AU 4 106618193 106618193 single base substitution G A intron_variant MELA-AU 4 106618494 106618494 single base substitution T A downstream_gene_variant MELA-AU 4 106618494 106618494 single base substitution T A intron_variant MELA-AU 4 106619071 106619071 single base substitution G A downstream_gene_variant MELA-AU 4 106619071 106619071 single base substitution G A intron_variant MELA-AU 4 106619126 106619126 single base substitution G A downstream_gene_variant MELA-AU 4 106619126 106619126 single base substitution G A intron_variant MELA-AU 4 106619137 106619137 single base substitution G A downstream_gene_variant MELA-AU 4 106619137 106619137 single base substitution G A intron_variant MELA-AU 4 106619831 106619831 single base substitution A G downstream_gene_variant MELA-AU 4 106619831 106619831 single base substitution A G intron_variant MELA-AU 4 106620902 106620902 single base substitution G A downstream_gene_variant MELA-AU 4 106620902 106620902 single base substitution G A intron_variant MELA-AU 4 106621696 106621696 single base substitution T C intron_variant MELA-AU 4 106621838 106621838 single base substitution G A intron_variant MELA-AU 4 106621840 106621840 single base substitution G A intron_variant MELA-AU 4 106621952 106621952 single base substitution G A intron_variant MELA-AU 4 106622643 106622643 single base substitution G A intron_variant MELA-AU 4 106622721 106622721 single base substitution T A intron_variant MELA-AU 4 106622726 106622726 single base substitution A C intron_variant MELA-AU 4 106624378 106624378 single base substitution T G intron_variant MELA-AU 4 106624484 106624484 single base substitution G A intron_variant MELA-AU 4 106624658 106624658 single base substitution C T intron_variant MELA-AU 4 106625106 106625106 single base substitution G A intron_variant MELA-AU 4 106625172 106625172 single base substitution T A intron_variant MELA-AU 4 106626245 106626245 single base substitution A G intron_variant MELA-AU 4 106626418 106626418 single base substitution G A intron_variant MELA-AU 4 106627373 106627374 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 106628356 106628356 single base substitution G A intron_variant MELA-AU 4 106628717 106628717 single base substitution C T intron_variant MELA-AU 4 106629877 106629877 single base substitution G A 5_prime_UTR_variant MELA-AU 4 106629877 106629877 single base substitution G A intron_variant MELA-AU 4 106629877 106629877 single base substitution G A upstream_gene_variant MELA-AU 4 106629907 106629907 single base substitution G A 5_prime_UTR_variant MELA-AU 4 106629907 106629907 single base substitution G A intron_variant MELA-AU 4 106629907 106629907 single base substitution G A upstream_gene_variant MELA-AU 4 106629925 106629925 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 4 106629925 106629925 single base substitution G A intron_variant MELA-AU 4 106629925 106629925 single base substitution G A upstream_gene_variant MELA-AU 4 106629933 106629933 single base substitution G A 5_prime_UTR_variant MELA-AU 4 106629933 106629933 single base substitution G A intron_variant MELA-AU 4 106629933 106629933 single base substitution G A upstream_gene_variant MELA-AU 4 106629948 106629948 single base substitution C T 5_prime_UTR_variant MELA-AU 4 106629948 106629948 single base substitution C T intron_variant MELA-AU 4 106629948 106629948 single base substitution C T upstream_gene_variant MELA-AU 4 106629950 106629950 single base substitution C T 5_prime_UTR_variant MELA-AU 4 106629950 106629950 single base substitution C T intron_variant MELA-AU 4 106629950 106629950 single base substitution C T upstream_gene_variant MELA-AU 4 106629953 106629953 single base substitution T A 5_prime_UTR_variant MELA-AU 4 106629953 106629953 single base substitution T A intron_variant MELA-AU 4 106629953 106629953 single base substitution T A upstream_gene_variant MELA-AU 4 106629953 106629953 single base substitution T C 5_prime_UTR_variant MELA-AU 4 106629953 106629953 single base substitution T C intron_variant MELA-AU 4 106629953 106629953 single base substitution T C upstream_gene_variant MELA-AU 4 106630340 106630340 single base substitution C T intron_variant MELA-AU 4 106630340 106630340 single base substitution C T upstream_gene_variant MELA-AU 4 106631694 106631694 single base substitution T G intron_variant MELA-AU 4 106631694 106631694 single base substitution T G upstream_gene_variant MELA-AU 4 106631978 106631978 single base substitution C T intron_variant MELA-AU 4 106631978 106631978 single base substitution C T upstream_gene_variant MELA-AU 4 106632005 106632005 single base substitution T G intron_variant MELA-AU 4 106632005 106632005 single base substitution T G upstream_gene_variant MELA-AU 4 106632609 106632609 single base substitution C T intron_variant MELA-AU 4 106632609 106632609 single base substitution C T upstream_gene_variant MELA-AU 4 106633005 106633005 single base substitution C T intron_variant MELA-AU 4 106633005 106633005 single base substitution C T upstream_gene_variant MELA-AU 4 106633679 106633679 single base substitution C T intron_variant MELA-AU 4 106633679 106633679 single base substitution C T upstream_gene_variant MELA-AU 4 106633903 106633903 single base substitution G C intron_variant MELA-AU 4 106633903 106633903 single base substitution G C upstream_gene_variant MELA-AU 4 106634346 106634346 single base substitution G T intron_variant MELA-AU 4 106634346 106634346 single base substitution G T upstream_gene_variant MELA-AU 4 106634380 106634380 single base substitution C T intron_variant MELA-AU 4 106634380 106634380 single base substitution C T upstream_gene_variant MELA-AU 4 106634385 106634385 single base substitution G A intron_variant MELA-AU 4 106634385 106634385 single base substitution G A upstream_gene_variant MELA-AU 4 106634537 106634537 single base substitution T A intron_variant MELA-AU 4 106634537 106634537 single base substitution T A upstream_gene_variant MELA-AU 4 106635778 106635778 single base substitution T C intron_variant MELA-AU 4 106636074 106636074 single base substitution G A intron_variant MELA-AU 4 106637031 106637031 single base substitution C T intron_variant MELA-AU 4 106637730 106637730 single base substitution C T intron_variant MELA-AU 4 106637884 106637884 single base substitution C T intron_variant MELA-AU 4 106638064 106638064 single base substitution G T intron_variant MELA-AU 4 106638291 106638293 deletion of <=200bp CTC - intron_variant MELA-AU 4 106638311 106638311 single base substitution C T intron_variant MELA-AU 4 106638378 106638378 single base substitution C T intron_variant MELA-AU 4 106638431 106638431 single base substitution C T intron_variant MELA-AU 4 106638825 106638825 single base substitution T G intron_variant MELA-AU 4 106638853 106638853 single base substitution C T intron_variant MELA-AU 4 106639436 106639436 single base substitution C T intron_variant MELA-AU 4 106639725 106639725 single base substitution C T intron_variant MELA-AU 4 106640143 106640143 single base substitution A C intron_variant MELA-AU 4 106640189 106640189 single base substitution C T intron_variant MELA-AU 4 106640278 106640278 single base substitution G T intron_variant MELA-AU 4 106641528 106641528 single base substitution C T intron_variant MELA-AU 4 106642370 106642370 single base substitution C T intron_variant MELA-AU 4 106642683 106642683 single base substitution T G intron_variant MELA-AU 4 106642899 106642899 single base substitution T C intron_variant MELA-AU 4 106642968 106642968 single base substitution C T intron_variant MELA-AU 4 106644015 106644015 single base substitution C T intron_variant MELA-AU 4 106644226 106644226 single base substitution C T intron_variant MELA-AU 4 106645207 106645207 single base substitution G A intron_variant MELA-AU 4 106645873 106645873 single base substitution C T intron_variant MELA-AU 4 106646364 106646364 single base substitution C T intron_variant MELA-AU 4 106646391 106646391 single base substitution C T intron_variant MELA-AU 4 106646780 106646780 single base substitution C T intron_variant MELA-AU 4 106646853 106646853 single base substitution C T intron_variant MELA-AU 4 106647328 106647328 single base substitution C T intron_variant MELA-AU 4 106647560 106647560 single base substitution C T intron_variant MELA-AU 4 106648273 106648273 single base substitution A T intron_variant MELA-AU 4 106648884 106648884 single base substitution C G intron_variant MELA-AU 4 106648887 106648887 single base substitution C T intron_variant MELA-AU 4 106649106 106649106 single base substitution C T intron_variant MELA-AU 4 106649311 106649311 single base substitution C T intron_variant MELA-AU 4 106649456 106649456 single base substitution A G intron_variant MELA-AU 4 106649684 106649684 single base substitution C T intron_variant MELA-AU 4 106649851 106649851 single base substitution T C intron_variant MELA-AU 4 106649983 106649983 single base substitution C T intron_variant MELA-AU 4 106650661 106650661 single base substitution G T intron_variant MELA-AU 4 106650666 106650666 single base substitution C T intron_variant MELA-AU 4 106650687 106650687 single base substitution C T intron_variant MELA-AU 4 106651030 106651030 single base substitution C T intron_variant MELA-AU 4 106651041 106651041 single base substitution C T intron_variant MELA-AU 4 106651588 106651588 single base substitution C T intron_variant MELA-AU 4 106651911 106651911 single base substitution C T intron_variant MELA-AU 4 106652095 106652095 single base substitution C T intron_variant MELA-AU 4 106652131 106652131 single base substitution C T intron_variant MELA-AU 4 106652493 106652493 single base substitution C T intron_variant MELA-AU 4 106652900 106652900 single base substitution A G intron_variant MELA-AU 4 106653603 106653603 single base substitution C T intron_variant MELA-AU 4 106653621 106653621 single base substitution C T intron_variant MELA-AU 4 106653962 106653962 single base substitution C T intron_variant MELA-AU 4 106653999 106653999 single base substitution C T intron_variant MELA-AU 4 106654397 106654397 single base substitution C T intron_variant MELA-AU 4 106654398 106654398 single base substitution C T intron_variant MELA-AU 4 106655010 106655010 single base substitution C T intron_variant MELA-AU 4 106655234 106655234 single base substitution C T intron_variant MELA-AU 4 106655461 106655461 single base substitution C T intron_variant MELA-AU 4 106655538 106655538 single base substitution C T intron_variant MELA-AU 4 106655742 106655742 single base substitution C T intron_variant MELA-AU 4 106655952 106655952 single base substitution C T intron_variant MELA-AU 4 106656046 106656046 single base substitution C T intron_variant MELA-AU 4 106656074 106656074 single base substitution A G intron_variant MELA-AU 4 106656190 106656190 single base substitution C T intron_variant MELA-AU 4 106656205 106656205 single base substitution C T intron_variant MELA-AU 4 106656275 106656275 insertion of <=200bp - T intron_variant MELA-AU 4 106656561 106656561 single base substitution C T intron_variant MELA-AU 4 106656607 106656607 single base substitution C T intron_variant MELA-AU 4 106656790 106656790 single base substitution G A intron_variant MELA-AU 4 106656967 106656967 single base substitution C T intron_variant MELA-AU 4 106657220 106657220 single base substitution C T intron_variant MELA-AU 4 106657540 106657540 single base substitution C T intron_variant MELA-AU 4 106657869 106657869 single base substitution T C intron_variant MELA-AU 4 106657996 106657996 single base substitution C T intron_variant MELA-AU 4 106658032 106658032 single base substitution C T intron_variant MELA-AU 4 106658711 106658711 single base substitution C G intron_variant MELA-AU 4 106658744 106658744 single base substitution T A intron_variant MELA-AU 4 106659070 106659070 single base substitution T G intron_variant MELA-AU 4 106659426 106659426 single base substitution C T intron_variant MELA-AU 4 106659706 106659706 single base substitution C T intron_variant MELA-AU 4 106659756 106659756 single base substitution C T intron_variant MELA-AU 4 106659874 106659874 single base substitution T C intron_variant MELA-AU 4 106660917 106660917 single base substitution G A intron_variant MELA-AU 4 106660939 106660939 single base substitution T A intron_variant MELA-AU 4 106660958 106660958 single base substitution C T intron_variant MELA-AU 4 106661042 106661042 single base substitution C T intron_variant MELA-AU 4 106661860 106661860 single base substitution C T intron_variant MELA-AU 4 106661865 106661865 single base substitution C T intron_variant MELA-AU 4 106662650 106662650 single base substitution C T intron_variant MELA-AU 4 106662856 106662856 single base substitution A C intron_variant MELA-AU 4 106664630 106664630 single base substitution C T intron_variant MELA-AU 4 106664941 106664941 single base substitution G A intron_variant MELA-AU 4 106665854 106665854 single base substitution A G intron_variant MELA-AU 4 106665981 106665981 single base substitution C A intron_variant MELA-AU 4 106666041 106666041 single base substitution C T intron_variant MELA-AU 4 106666258 106666258 single base substitution C T intron_variant MELA-AU 4 106666891 106666891 single base substitution T C intron_variant MELA-AU 4 106667050 106667050 single base substitution C T intron_variant MELA-AU 4 106667920 106667920 single base substitution G A intron_variant MELA-AU 4 106668801 106668801 single base substitution T A intron_variant MELA-AU 4 106669171 106669171 single base substitution G A intron_variant MELA-AU 4 106669191 106669191 single base substitution C T intron_variant MELA-AU 4 106669349 106669349 single base substitution T C intron_variant MELA-AU 4 106669533 106669533 single base substitution T G intron_variant MELA-AU 4 106669712 106669712 single base substitution A T intron_variant MELA-AU 4 106670068 106670068 single base substitution C T intron_variant MELA-AU 4 106670782 106670782 single base substitution A T intron_variant MELA-AU 4 106672545 106672545 single base substitution C T intron_variant MELA-AU 4 106672599 106672599 single base substitution T A intron_variant MELA-AU 4 106674457 106674457 single base substitution C T intron_variant MELA-AU 4 106675442 106675442 single base substitution T C intron_variant MELA-AU 4 106675987 106675987 single base substitution C T intron_variant MELA-AU 4 106676125 106676125 single base substitution C T intron_variant MELA-AU 4 106676546 106676546 single base substitution C T intron_variant MELA-AU 4 106676560 106676560 single base substitution C T intron_variant MELA-AU 4 106677127 106677127 single base substitution T C intron_variant MELA-AU 4 106677358 106677358 single base substitution C T intron_variant MELA-AU 4 106677395 106677395 single base substitution T A intron_variant MELA-AU 4 106677723 106677723 single base substitution G A intron_variant MELA-AU 4 106678465 106678465 single base substitution C T intron_variant MELA-AU 4 106679648 106679648 single base substitution C T intron_variant MELA-AU 4 106680629 106680629 single base substitution T C intron_variant MELA-AU 4 106681066 106681066 single base substitution C T intron_variant MELA-AU 4 106681886 106681886 single base substitution G T intron_variant MELA-AU 4 106682080 106682080 single base substitution C T intron_variant MELA-AU 4 106682746 106682746 single base substitution C T intron_variant MELA-AU 4 106683081 106683081 single base substitution C T intron_variant MELA-AU 4 106683127 106683127 single base substitution C T intron_variant MELA-AU 4 106683261 106683261 single base substitution A G intron_variant MELA-AU 4 106683466 106683466 single base substitution C T intron_variant MELA-AU 4 106683870 106683870 single base substitution C T intron_variant MELA-AU 4 106684450 106684450 single base substitution G T intron_variant MELA-AU 4 106684973 106684973 single base substitution T A intron_variant MELA-AU 4 106685066 106685066 single base substitution C T intron_variant MELA-AU 4 106685876 106685876 single base substitution C T intron_variant MELA-AU 4 106687069 106687070 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 106688950 106688950 single base substitution C T intron_variant MELA-AU 4 106689598 106689598 single base substitution C T intron_variant MELA-AU 4 106689802 106689802 single base substitution T C intron_variant MELA-AU 4 106690031 106690031 single base substitution A C intron_variant MELA-AU 4 106690200 106690200 single base substitution A T intron_variant MELA-AU 4 106690400 106690400 single base substitution A G intron_variant MELA-AU 4 106691527 106691527 single base substitution T C intron_variant MELA-AU 4 106691606 106691606 single base substitution T G intron_variant MELA-AU 4 106691636 106691636 single base substitution C T intron_variant MELA-AU 4 106692027 106692027 single base substitution C T intron_variant MELA-AU 4 106692138 106692138 single base substitution C T intron_variant MELA-AU 4 106692793 106692793 single base substitution C T intron_variant MELA-AU 4 106692874 106692874 single base substitution C T intron_variant MELA-AU 4 106693011 106693011 single base substitution C T intron_variant MELA-AU 4 106693149 106693149 single base substitution C T intron_variant MELA-AU 4 106693238 106693238 single base substitution C T intron_variant MELA-AU 4 106693583 106693583 single base substitution C T intron_variant MELA-AU 4 106693584 106693584 single base substitution C T intron_variant MELA-AU 4 106694126 106694126 single base substitution T C intron_variant MELA-AU 4 106694275 106694275 single base substitution C T intron_variant MELA-AU 4 106694309 106694309 single base substitution T C intron_variant MELA-AU 4 106694765 106694765 single base substitution C T intron_variant MELA-AU 4 106694774 106694775 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 106694808 106694808 single base substitution C T intron_variant MELA-AU 4 106695037 106695037 single base substitution C T intron_variant MELA-AU 4 106695369 106695369 single base substitution A T intron_variant MELA-AU 4 106695372 106695372 single base substitution C T intron_variant MELA-AU 4 106695674 106695674 single base substitution C T intron_variant MELA-AU 4 106695716 106695716 single base substitution C T intron_variant MELA-AU 4 106696166 106696166 single base substitution C T intron_variant MELA-AU 4 106696282 106696282 single base substitution C T intron_variant MELA-AU 4 106696659 106696659 single base substitution C T intron_variant MELA-AU 4 106696760 106696760 single base substitution C T intron_variant MELA-AU 4 106697013 106697013 single base substitution C T intron_variant MELA-AU 4 106697117 106697118 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 106697142 106697143 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 106697207 106697207 single base substitution G A intron_variant MELA-AU 4 106697437 106697437 single base substitution G A intron_variant MELA-AU 4 106697468 106697468 single base substitution C T intron_variant MELA-AU 4 106697732 106697732 single base substitution C T intron_variant MELA-AU 4 106697818 106697818 single base substitution C T intron_variant MELA-AU 4 106697886 106697886 single base substitution C T intron_variant MELA-AU 4 106698124 106698124 single base substitution C T intron_variant MELA-AU 4 106698555 106698555 single base substitution C T intron_variant MELA-AU 4 106698592 106698592 single base substitution T A intron_variant MELA-AU 4 106698597 106698597 single base substitution C T intron_variant MELA-AU 4 106699144 106699144 single base substitution G A intron_variant MELA-AU 4 106699154 106699154 single base substitution T C intron_variant MELA-AU 4 106699237 106699237 single base substitution C T intron_variant MELA-AU 4 106699722 106699722 single base substitution T A intron_variant MELA-AU 4 106700831 106700831 single base substitution G A intron_variant MELA-AU 4 106701677 106701677 single base substitution G A intron_variant MELA-AU 4 106702546 106702546 single base substitution A T intron_variant MELA-AU 4 106702605 106702605 single base substitution C T intron_variant MELA-AU 4 106702964 106702964 single base substitution T A intron_variant MELA-AU 4 106703027 106703027 single base substitution C T intron_variant MELA-AU 4 106703094 106703094 single base substitution C T intron_variant MELA-AU 4 106703792 106703792 single base substitution G A intron_variant MELA-AU 4 106704608 106704608 single base substitution T C intron_variant MELA-AU 4 106704691 106704691 single base substitution C T intron_variant MELA-AU 4 106704768 106704768 single base substitution C T intron_variant MELA-AU 4 106704992 106704992 single base substitution C T intron_variant MELA-AU 4 106705897 106705897 single base substitution C T intron_variant MELA-AU 4 106706010 106706010 single base substitution C T intron_variant MELA-AU 4 106707566 106707566 single base substitution G A intron_variant MELA-AU 4 106707796 106707796 single base substitution C T intron_variant MELA-AU 4 106707989 106707989 single base substitution C T intron_variant MELA-AU 4 106708095 106708095 single base substitution C T intron_variant MELA-AU 4 106708153 106708153 single base substitution G A intron_variant MELA-AU 4 106708348 106708348 single base substitution C T intron_variant MELA-AU 4 106708789 106708789 single base substitution C T intron_variant MELA-AU 4 106708791 106708791 single base substitution T A intron_variant MELA-AU 4 106708933 106708933 single base substitution C T intron_variant MELA-AU 4 106709405 106709405 single base substitution C T intron_variant MELA-AU 4 106709415 106709415 single base substitution C T intron_variant MELA-AU 4 106710154 106710154 single base substitution G A intron_variant MELA-AU 4 106710236 106710236 single base substitution T G intron_variant MELA-AU 4 106710323 106710323 single base substitution G A intron_variant MELA-AU 4 106710454 106710454 single base substitution G A intron_variant MELA-AU 4 106710936 106710936 single base substitution C T intron_variant MELA-AU 4 106711569 106711569 single base substitution G A intron_variant MELA-AU 4 106711708 106711708 single base substitution G A intron_variant MELA-AU 4 106711815 106711815 single base substitution G A intron_variant MELA-AU 4 106712776 106712776 single base substitution C T intron_variant MELA-AU 4 106712853 106712853 single base substitution C T intron_variant MELA-AU 4 106713017 106713017 single base substitution C T intron_variant MELA-AU 4 106714035 106714035 single base substitution A T intron_variant MELA-AU 4 106714165 106714165 single base substitution C T intron_variant MELA-AU 4 106714471 106714471 single base substitution C T intron_variant MELA-AU 4 106715473 106715473 single base substitution G A intron_variant MELA-AU 4 106715992 106715992 single base substitution C T intron_variant MELA-AU 4 106715996 106715996 single base substitution T C intron_variant MELA-AU 4 106716847 106716847 single base substitution G A intron_variant MELA-AU 4 106717278 106717278 single base substitution C T intron_variant MELA-AU 4 106717491 106717491 single base substitution C T intron_variant MELA-AU 4 106717732 106717732 single base substitution C T intron_variant MELA-AU 4 106717975 106717975 single base substitution G T intron_variant MELA-AU 4 106718447 106718447 single base substitution C T intron_variant MELA-AU 4 106718652 106718652 single base substitution T C intron_variant MELA-AU 4 106718853 106718853 single base substitution C T intron_variant MELA-AU 4 106718972 106718972 single base substitution C T intron_variant MELA-AU 4 106719367 106719367 single base substitution C T intron_variant MELA-AU 4 106719383 106719383 single base substitution C T intron_variant MELA-AU 4 106719444 106719444 single base substitution C T intron_variant MELA-AU 4 106719660 106719660 single base substitution A G intron_variant MELA-AU 4 106719752 106719752 single base substitution C T intron_variant MELA-AU 4 106720348 106720348 single base substitution G A intron_variant MELA-AU 4 106720640 106720640 single base substitution C G intron_variant MELA-AU 4 106721947 106721947 single base substitution C T intron_variant MELA-AU 4 106721988 106721988 single base substitution C T intron_variant MELA-AU 4 106722047 106722047 single base substitution T A intron_variant MELA-AU 4 106722209 106722209 single base substitution A T intron_variant MELA-AU 4 106722349 106722349 single base substitution C T intron_variant MELA-AU 4 106722835 106722835 single base substitution C T intron_variant MELA-AU 4 106723243 106723244 multiple base substitution (>=2bp and <=200bp) GA AG intron_variant MELA-AU 4 106723255 106723255 single base substitution T C intron_variant MELA-AU 4 106723743 106723743 single base substitution C T intron_variant MELA-AU 4 106724398 106724398 single base substitution C T intron_variant MELA-AU 4 106725281 106725281 single base substitution A T intron_variant MELA-AU 4 106725714 106725714 single base substitution A T intron_variant MELA-AU 4 106725968 106725968 single base substitution G A intron_variant MELA-AU 4 106726962 106726962 single base substitution C T intron_variant MELA-AU 4 106726964 106726964 single base substitution A T intron_variant MELA-AU 4 106727096 106727097 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 106727449 106727449 single base substitution C T intron_variant MELA-AU 4 106728439 106728439 single base substitution C T intron_variant MELA-AU 4 106730712 106730712 single base substitution C T intron_variant MELA-AU 4 106731086 106731086 single base substitution T G intron_variant MELA-AU 4 106731393 106731393 single base substitution G A intron_variant MELA-AU 4 106731515 106731515 single base substitution G A intron_variant MELA-AU 4 106731944 106731944 single base substitution C T intron_variant MELA-AU 4 106732298 106732298 single base substitution C T intron_variant MELA-AU 4 106732422 106732422 single base substitution C T intron_variant MELA-AU 4 106732878 106732878 deletion of <=200bp G - intron_variant MELA-AU 4 106733603 106733603 single base substitution C T intron_variant MELA-AU 4 106734685 106734685 single base substitution C T intron_variant MELA-AU 4 106735097 106735097 single base substitution C T intron_variant MELA-AU 4 106736072 106736072 single base substitution G C intron_variant MELA-AU 4 106736074 106736074 single base substitution T C intron_variant MELA-AU 4 106736572 106736572 single base substitution C T intron_variant MELA-AU 4 106736810 106736810 single base substitution C T intron_variant MELA-AU 4 106737749 106737749 single base substitution G A intron_variant MELA-AU 4 106737800 106737800 single base substitution C T intron_variant MELA-AU 4 106737832 106737832 single base substitution C T intron_variant MELA-AU 4 106738074 106738074 single base substitution C T intron_variant MELA-AU 4 106738725 106738725 single base substitution T C intron_variant MELA-AU 4 106739105 106739105 single base substitution G A intron_variant MELA-AU 4 106739248 106739248 single base substitution A G intron_variant MELA-AU 4 106740067 106740067 single base substitution C T intron_variant MELA-AU 4 106740367 106740367 single base substitution C T intron_variant MELA-AU 4 106740437 106740437 single base substitution C T intron_variant MELA-AU 4 106740469 106740469 single base substitution C T intron_variant MELA-AU 4 106740731 106740731 single base substitution C T intron_variant MELA-AU 4 106740870 106740870 single base substitution T C intron_variant MELA-AU 4 106741300 106741300 single base substitution C T intron_variant MELA-AU 4 106741403 106741404 multiple base substitution (>=2bp and <=200bp) AT TG intron_variant MELA-AU 4 106741846 106741846 single base substitution C T intron_variant MELA-AU 4 106742470 106742470 single base substitution T C intron_variant MELA-AU 4 106742483 106742483 single base substitution C T intron_variant MELA-AU 4 106742894 106742894 single base substitution C T intron_variant MELA-AU 4 106743055 106743055 single base substitution C T intron_variant MELA-AU 4 106746002 106746002 single base substitution T C intron_variant MELA-AU 4 106746018 106746018 single base substitution T G intron_variant MELA-AU 4 106746159 106746159 single base substitution C T intron_variant MELA-AU 4 106746198 106746198 single base substitution C T intron_variant MELA-AU 4 106746209 106746209 single base substitution T A intron_variant MELA-AU 4 106746386 106746386 single base substitution A G intron_variant MELA-AU 4 106746409 106746409 single base substitution C T intron_variant MELA-AU 4 106746766 106746766 single base substitution A T intron_variant MELA-AU 4 106746830 106746830 single base substitution T C intron_variant MELA-AU 4 106748154 106748154 single base substitution C T intron_variant MELA-AU 4 106748916 106748916 single base substitution G C intron_variant MELA-AU 4 106749206 106749206 single base substitution C T intron_variant MELA-AU 4 106749356 106749356 single base substitution T C intron_variant MELA-AU 4 106749663 106749663 single base substitution C T intron_variant MELA-AU 4 106749711 106749711 single base substitution C T intron_variant MELA-AU 4 106749977 106749977 single base substitution C T intron_variant MELA-AU 4 106750421 106750421 single base substitution T A intron_variant MELA-AU 4 106750726 106750726 single base substitution C T intron_variant MELA-AU 4 106751238 106751238 single base substitution A T intron_variant MELA-AU 4 106751423 106751423 single base substitution C T intron_variant MELA-AU 4 106751587 106751587 single base substitution C T intron_variant MELA-AU 4 106751625 106751625 single base substitution C T intron_variant MELA-AU 4 106751975 106751975 single base substitution C T intron_variant MELA-AU 4 106752063 106752063 single base substitution C T intron_variant MELA-AU 4 106752262 106752262 single base substitution C T intron_variant MELA-AU 4 106752263 106752263 single base substitution C T intron_variant MELA-AU 4 106752881 106752881 single base substitution T C intron_variant MELA-AU 4 106753129 106753129 single base substitution T C intron_variant MELA-AU 4 106753360 106753360 single base substitution C T intron_variant MELA-AU 4 106753888 106753888 single base substitution C T intron_variant MELA-AU 4 106753890 106753890 single base substitution C T intron_variant MELA-AU 4 106753908 106753908 single base substitution G A intron_variant MELA-AU 4 106753943 106753943 single base substitution C T intron_variant MELA-AU 4 106754918 106754918 single base substitution T G intron_variant MELA-AU 4 106754951 106754951 single base substitution C T intron_variant MELA-AU 4 106754995 106754995 single base substitution T C intron_variant MELA-AU 4 106755022 106755022 single base substitution T A intron_variant MELA-AU 4 106755698 106755698 single base substitution C T intron_variant MELA-AU 4 106756960 106756960 single base substitution G A intron_variant MELA-AU 4 106757029 106757029 single base substitution C T intron_variant MELA-AU 4 106757099 106757099 single base substitution C T intron_variant MELA-AU 4 106757746 106757746 single base substitution C T intron_variant MELA-AU 4 106757791 106757791 single base substitution G A intron_variant MELA-AU 4 106758013 106758013 single base substitution C T intron_variant MELA-AU 4 106758305 106758305 single base substitution C T intron_variant MELA-AU 4 106758325 106758325 single base substitution C T intron_variant MELA-AU 4 106758507 106758507 single base substitution C T intron_variant MELA-AU 4 106758997 106758997 single base substitution C T intron_variant MELA-AU 4 106759108 106759108 single base substitution C T intron_variant MELA-AU 4 106759219 106759219 single base substitution T A intron_variant MELA-AU 4 106759407 106759407 single base substitution C T intron_variant MELA-AU 4 106760274 106760274 single base substitution C T intron_variant MELA-AU 4 106760594 106760594 single base substitution C T intron_variant MELA-AU 4 106760674 106760674 single base substitution C T intron_variant MELA-AU 4 106760915 106760915 single base substitution C T intron_variant MELA-AU 4 106761177 106761177 single base substitution C T intron_variant MELA-AU 4 106761199 106761199 single base substitution C T intron_variant MELA-AU 4 106761459 106761459 single base substitution C T 5_prime_UTR_variant MELA-AU 4 106761796 106761796 single base substitution A C intron_variant MELA-AU 4 106762474 106762474 single base substitution C T intron_variant MELA-AU 4 106762929 106762929 single base substitution G A intron_variant MELA-AU 4 106763203 106763203 single base substitution C T intron_variant MELA-AU 4 106763221 106763221 single base substitution G A intron_variant MELA-AU 4 106764082 106764082 single base substitution C T intron_variant MELA-AU 4 106764172 106764172 single base substitution C T intron_variant MELA-AU 4 106764293 106764293 single base substitution A G intron_variant MELA-AU 4 106764310 106764310 single base substitution C T intron_variant MELA-AU 4 106765340 106765340 single base substitution C T intron_variant MELA-AU 4 106765464 106765464 single base substitution G A intron_variant MELA-AU 4 106765559 106765559 single base substitution G T intron_variant MELA-AU 4 106765901 106765901 single base substitution C T intron_variant MELA-AU 4 106765956 106765956 single base substitution C T intron_variant MELA-AU 4 106766091 106766091 single base substitution G A intron_variant MELA-AU 4 106766494 106766494 single base substitution C T intron_variant MELA-AU 4 106766662 106766662 single base substitution C T intron_variant MELA-AU 4 106766726 106766726 single base substitution C G intron_variant MELA-AU 4 106766766 106766766 single base substitution C T intron_variant MELA-AU 4 106767324 106767324 single base substitution C T intron_variant MELA-AU 4 106767555 106767555 single base substitution C T intron_variant MELA-AU 4 106767616 106767616 single base substitution C T intron_variant MELA-AU 4 106767835 106767835 single base substitution T G intron_variant MELA-AU 4 106768174 106768174 single base substitution C T intron_variant MELA-AU 4 106768741 106768741 single base substitution G A intron_variant MELA-AU 4 106769204 106769204 single base substitution C T intron_variant MELA-AU 4 106769289 106769289 single base substitution T A intron_variant MELA-AU 4 106769293 106769293 single base substitution C T intron_variant MELA-AU 4 106769354 106769354 single base substitution G A intron_variant MELA-AU 4 106769358 106769358 single base substitution G T intron_variant MELA-AU 4 106769933 106769933 single base substitution C T intron_variant MELA-AU 4 106770193 106770193 single base substitution C T intron_variant MELA-AU 4 106770574 106770574 single base substitution C T intron_variant MELA-AU 4 106770770 106770770 single base substitution G A intron_variant MELA-AU 4 106771443 106771443 single base substitution G A intron_variant MELA-AU 4 106771631 106771631 single base substitution G A intron_variant MELA-AU 4 106772796 106772796 single base substitution G A intron_variant MELA-AU 4 106773019 106773019 single base substitution C T intron_variant MELA-AU 4 106773209 106773209 single base substitution A C intron_variant MELA-AU 4 106773402 106773402 single base substitution C T intron_variant MELA-AU 4 106773419 106773419 single base substitution C T intron_variant MELA-AU 4 106773527 106773527 single base substitution T C intron_variant MELA-AU 4 106774033 106774033 single base substitution C T intron_variant MELA-AU 4 106774144 106774144 single base substitution C T intron_variant MELA-AU 4 106774375 106774375 single base substitution C T intron_variant MELA-AU 4 106774399 106774399 single base substitution G T intron_variant MELA-AU 4 106774422 106774422 single base substitution C T intron_variant MELA-AU 4 106774569 106774569 single base substitution T C intron_variant MELA-AU 4 106774757 106774757 single base substitution A G intron_variant MELA-AU 4 106774868 106774868 single base substitution C T intron_variant MELA-AU 4 106774911 106774911 single base substitution C T intron_variant MELA-AU 4 106775114 106775114 single base substitution C T intron_variant MELA-AU 4 106775196 106775196 single base substitution C T intron_variant MELA-AU 4 106775454 106775454 single base substitution C T intron_variant MELA-AU 4 106775484 106775484 single base substitution G A intron_variant MELA-AU 4 106775712 106775712 single base substitution T A intron_variant MELA-AU 4 106775714 106775714 single base substitution C T intron_variant MELA-AU 4 106776100 106776100 single base substitution C T intron_variant MELA-AU 4 106776267 106776267 single base substitution G A intron_variant MELA-AU 4 106776301 106776301 single base substitution G A intron_variant MELA-AU 4 106776405 106776405 single base substitution C T intron_variant MELA-AU 4 106776406 106776406 single base substitution C T intron_variant MELA-AU 4 106776619 106776619 single base substitution C T intron_variant MELA-AU 4 106777092 106777092 single base substitution C T intron_variant MELA-AU 4 106777549 106777549 single base substitution C T intron_variant MELA-AU 4 106777556 106777556 single base substitution C T intron_variant MELA-AU 4 106777903 106777903 single base substitution C T intron_variant MELA-AU 4 106777932 106777932 single base substitution C T intron_variant MELA-AU 4 106777995 106777995 single base substitution C T intron_variant MELA-AU 4 106778042 106778042 single base substitution C T intron_variant MELA-AU 4 106778299 106778299 single base substitution T A intron_variant MELA-AU 4 106778709 106778709 single base substitution G A intron_variant MELA-AU 4 106778771 106778771 single base substitution C T intron_variant MELA-AU 4 106778920 106778920 single base substitution C T intron_variant MELA-AU 4 106779031 106779031 single base substitution G T intron_variant MELA-AU 4 106779177 106779177 single base substitution C T intron_variant MELA-AU 4 106779345 106779345 single base substitution C T intron_variant MELA-AU 4 106779520 106779520 single base substitution C T intron_variant MELA-AU 4 106779753 106779753 single base substitution C T intron_variant MELA-AU 4 106779779 106779779 insertion of <=200bp - T intron_variant MELA-AU 4 106779975 106779975 single base substitution C T intron_variant MELA-AU 4 106780216 106780216 single base substitution C T intron_variant MELA-AU 4 106780413 106780413 single base substitution C T intron_variant MELA-AU 4 106780598 106780598 single base substitution C T intron_variant MELA-AU 4 106780670 106780670 single base substitution C T intron_variant MELA-AU 4 106780816 106780816 single base substitution C T intron_variant MELA-AU 4 106780854 106780854 single base substitution C T intron_variant MELA-AU 4 106781013 106781013 single base substitution C T intron_variant MELA-AU 4 106781038 106781039 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 106781062 106781062 single base substitution C T intron_variant MELA-AU 4 106781298 106781298 single base substitution C T intron_variant MELA-AU 4 106781537 106781537 single base substitution C T intron_variant MELA-AU 4 106781554 106781554 single base substitution C T intron_variant MELA-AU 4 106781639 106781639 single base substitution C T intron_variant MELA-AU 4 106781836 106781836 single base substitution G A intron_variant MELA-AU 4 106782041 106782041 single base substitution G A intron_variant MELA-AU 4 106782204 106782204 single base substitution T G intron_variant MELA-AU 4 106782249 106782249 single base substitution C T intron_variant MELA-AU 4 106782459 106782459 single base substitution C T intron_variant MELA-AU 4 106782608 106782608 single base substitution G A intron_variant MELA-AU 4 106782651 106782651 single base substitution G A intron_variant MELA-AU 4 106782680 106782680 single base substitution G A intron_variant MELA-AU 4 106782751 106782751 single base substitution C T intron_variant MELA-AU 4 106782848 106782848 single base substitution C T intron_variant MELA-AU 4 106782862 106782862 single base substitution C T intron_variant MELA-AU 4 106783349 106783349 single base substitution C T intron_variant MELA-AU 4 106783986 106783986 single base substitution C T intron_variant MELA-AU 4 106784452 106784452 single base substitution C T intron_variant MELA-AU 4 106784705 106784705 single base substitution G A intron_variant MELA-AU 4 106784882 106784882 single base substitution G A intron_variant MELA-AU 4 106785075 106785075 single base substitution C T intron_variant MELA-AU 4 106785396 106785396 single base substitution C T intron_variant MELA-AU 4 106785438 106785438 single base substitution C T intron_variant MELA-AU 4 106785506 106785506 single base substitution C T intron_variant MELA-AU 4 106785811 106785811 single base substitution A G intron_variant MELA-AU 4 106785940 106785940 single base substitution C T intron_variant MELA-AU 4 106786590 106786590 single base substitution G A intron_variant MELA-AU 4 106786660 106786660 single base substitution C T intron_variant MELA-AU 4 106786827 106786827 single base substitution A G intron_variant MELA-AU 4 106787098 106787098 single base substitution G A intron_variant MELA-AU 4 106787268 106787268 single base substitution G A intron_variant MELA-AU 4 106787423 106787423 single base substitution A G intron_variant MELA-AU 4 106787810 106787810 single base substitution G A intron_variant MELA-AU 4 106787853 106787853 single base substitution C T intron_variant MELA-AU 4 106787956 106787956 single base substitution C T intron_variant MELA-AU 4 106788107 106788107 single base substitution G A intron_variant MELA-AU 4 106788132 106788132 single base substitution T C intron_variant MELA-AU 4 106788192 106788192 single base substitution C T intron_variant MELA-AU 4 106788231 106788231 single base substitution C T intron_variant MELA-AU 4 106788263 106788263 single base substitution A G intron_variant MELA-AU 4 106788390 106788390 single base substitution C T intron_variant MELA-AU 4 106788406 106788406 single base substitution G A intron_variant MELA-AU 4 106788804 106788804 single base substitution T A intron_variant MELA-AU 4 106789365 106789365 single base substitution C T intron_variant MELA-AU 4 106789688 106789688 single base substitution G A intron_variant MELA-AU 4 106789714 106789714 single base substitution G A intron_variant MELA-AU 4 106789830 106789830 single base substitution C T intron_variant MELA-AU 4 106789886 106789886 single base substitution G A intron_variant MELA-AU 4 106789897 106789897 single base substitution C T intron_variant MELA-AU 4 106789973 106789973 single base substitution C T intron_variant MELA-AU 4 106789999 106789999 single base substitution G A intron_variant MELA-AU 4 106790080 106790080 single base substitution T A intron_variant MELA-AU 4 106790100 106790100 single base substitution C T intron_variant MELA-AU 4 106790401 106790401 single base substitution C T intron_variant MELA-AU 4 106790561 106790561 single base substitution T A intron_variant MELA-AU 4 106790655 106790655 single base substitution A T intron_variant MELA-AU 4 106790771 106790771 single base substitution C T intron_variant MELA-AU 4 106790917 106790917 single base substitution G A intron_variant MELA-AU 4 106791119 106791119 single base substitution C T intron_variant MELA-AU 4 106791497 106791497 single base substitution G A intron_variant MELA-AU 4 106791712 106791712 single base substitution C T intron_variant MELA-AU 4 106791854 106791854 single base substitution A C intron_variant MELA-AU 4 106791862 106791862 single base substitution C T intron_variant MELA-AU 4 106791941 106791941 single base substitution G A intron_variant MELA-AU 4 106792215 106792215 single base substitution C T intron_variant MELA-AU 4 106792450 106792450 single base substitution C T intron_variant MELA-AU 4 106792467 106792467 single base substitution C T intron_variant MELA-AU 4 106792468 106792468 single base substitution G A intron_variant MELA-AU 4 106792508 106792508 single base substitution C T intron_variant MELA-AU 4 106792616 106792616 single base substitution G A intron_variant MELA-AU 4 106792757 106792757 single base substitution G A intron_variant MELA-AU 4 106792964 106792964 single base substitution G A intron_variant MELA-AU 4 106793000 106793011 deletion of <=200bp GTCAGGGGCTGC - intron_variant MELA-AU 4 106793187 106793187 single base substitution A T intron_variant MELA-AU 4 106793197 106793197 single base substitution G A intron_variant MELA-AU 4 106793231 106793231 single base substitution G A intron_variant MELA-AU 4 106793321 106793321 single base substitution C T intron_variant MELA-AU 4 106793578 106793578 single base substitution C T intron_variant MELA-AU 4 106793617 106793617 single base substitution T A intron_variant MELA-AU 4 106793973 106793973 single base substitution C T intron_variant MELA-AU 4 106794382 106794382 single base substitution C T intron_variant MELA-AU 4 106794590 106794590 single base substitution C T intron_variant MELA-AU 4 106794874 106794874 single base substitution G A intron_variant MELA-AU 4 106794908 106794908 single base substitution G A intron_variant MELA-AU 4 106794919 106794919 single base substitution G A intron_variant MELA-AU 4 106795031 106795031 single base substitution C T intron_variant MELA-AU 4 106795050 106795050 single base substitution G A intron_variant MELA-AU 4 106795153 106795153 single base substitution C T intron_variant MELA-AU 4 106795358 106795358 single base substitution G A intron_variant MELA-AU 4 106795600 106795600 single base substitution G A intron_variant MELA-AU 4 106795822 106795822 single base substitution C T intron_variant MELA-AU 4 106795959 106795959 single base substitution C T intron_variant MELA-AU 4 106796234 106796234 single base substitution G A intron_variant MELA-AU 4 106796999 106796999 single base substitution G A intron_variant MELA-AU 4 106797314 106797314 single base substitution C T intron_variant MELA-AU 4 106797443 106797443 single base substitution G A intron_variant MELA-AU 4 106797642 106797642 single base substitution C T intron_variant MELA-AU 4 106797643 106797643 single base substitution G A intron_variant MELA-AU 4 106797795 106797795 single base substitution G A intron_variant MELA-AU 4 106797851 106797851 single base substitution C T intron_variant MELA-AU 4 106798018 106798018 single base substitution G A intron_variant MELA-AU 4 106798091 106798091 single base substitution G A intron_variant MELA-AU 4 106798144 106798144 single base substitution G A intron_variant MELA-AU 4 106798422 106798422 single base substitution T C intron_variant MELA-AU 4 106798434 106798434 single base substitution C T intron_variant MELA-AU 4 106798629 106798629 single base substitution C T intron_variant MELA-AU 4 106798630 106798630 single base substitution C T intron_variant MELA-AU 4 106798713 106798713 single base substitution G A intron_variant MELA-AU 4 106799033 106799033 single base substitution G A intron_variant MELA-AU 4 106799091 106799091 single base substitution T C intron_variant MELA-AU 4 106799186 106799186 single base substitution C T intron_variant MELA-AU 4 106799390 106799390 single base substitution G A intron_variant MELA-AU 4 106799444 106799444 single base substitution C T intron_variant MELA-AU 4 106799709 106799709 single base substitution G A intron_variant MELA-AU 4 106799717 106799717 single base substitution C T intron_variant MELA-AU 4 106799819 106799819 single base substitution C T intron_variant MELA-AU 4 106799895 106799895 single base substitution C T intron_variant MELA-AU 4 106799954 106799954 single base substitution G A intron_variant MELA-AU 4 106799968 106799968 single base substitution C T intron_variant MELA-AU 4 106800080 106800080 single base substitution G A intron_variant MELA-AU 4 106800150 106800150 single base substitution C T intron_variant MELA-AU 4 106800213 106800213 single base substitution C T intron_variant MELA-AU 4 106800249 106800249 single base substitution C T intron_variant MELA-AU 4 106800283 106800283 single base substitution C T intron_variant MELA-AU 4 106800390 106800390 single base substitution C T intron_variant MELA-AU 4 106800505 106800505 single base substitution C T intron_variant MELA-AU 4 106800564 106800564 single base substitution G A intron_variant MELA-AU 4 106800642 106800642 single base substitution G A intron_variant MELA-AU 4 106800752 106800752 single base substitution T A intron_variant MELA-AU 4 106800847 106800847 single base substitution G A intron_variant MELA-AU 4 106800887 106800887 single base substitution C T intron_variant MELA-AU 4 106800932 106800932 single base substitution C T intron_variant MELA-AU 4 106801053 106801053 single base substitution C T intron_variant MELA-AU 4 106801067 106801067 single base substitution A G intron_variant MELA-AU 4 106801260 106801260 single base substitution G A intron_variant MELA-AU 4 106801325 106801325 single base substitution G A intron_variant MELA-AU 4 106801421 106801421 single base substitution C T intron_variant MELA-AU 4 106801508 106801508 single base substitution C T intron_variant MELA-AU 4 106801545 106801545 single base substitution C T intron_variant MELA-AU 4 106801583 106801583 single base substitution G A intron_variant MELA-AU 4 106801589 106801589 single base substitution C T intron_variant MELA-AU 4 106801600 106801600 single base substitution C T intron_variant MELA-AU 4 106801675 106801675 single base substitution G A intron_variant MELA-AU 4 106801856 106801856 single base substitution C T intron_variant MELA-AU 4 106801928 106801928 single base substitution C T intron_variant MELA-AU 4 106802004 106802004 single base substitution C T intron_variant MELA-AU 4 106802040 106802040 single base substitution G T intron_variant MELA-AU 4 106802052 106802052 single base substitution C T intron_variant MELA-AU 4 106802198 106802198 single base substitution G A intron_variant MELA-AU 4 106802349 106802350 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 106802411 106802411 single base substitution G A intron_variant MELA-AU 4 106802519 106802519 single base substitution A G intron_variant MELA-AU 4 106802521 106802521 single base substitution G A intron_variant MELA-AU 4 106802524 106802524 single base substitution G A intron_variant MELA-AU 4 106802562 106802562 single base substitution A T intron_variant MELA-AU 4 106802576 106802576 single base substitution G A intron_variant MELA-AU 4 106802627 106802627 single base substitution G A intron_variant MELA-AU 4 106802773 106802773 single base substitution A T intron_variant MELA-AU 4 106802795 106802795 single base substitution G A intron_variant MELA-AU 4 106802917 106802918 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 106803059 106803059 single base substitution G A intron_variant MELA-AU 4 106803072 106803072 single base substitution T C intron_variant MELA-AU 4 106803190 106803190 single base substitution C T intron_variant MELA-AU 4 106803235 106803235 single base substitution C T intron_variant MELA-AU 4 106803302 106803302 single base substitution G A intron_variant MELA-AU 4 106803430 106803430 single base substitution T A intron_variant MELA-AU 4 106803505 106803505 single base substitution G A intron_variant MELA-AU 4 106803597 106803597 single base substitution G A intron_variant MELA-AU 4 106803603 106803603 single base substitution G A intron_variant MELA-AU 4 106803604 106803604 single base substitution G A intron_variant MELA-AU 4 106803826 106803826 single base substitution G T intron_variant MELA-AU 4 106803982 106803983 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 106804399 106804399 single base substitution G A intron_variant MELA-AU 4 106804469 106804469 single base substitution G A intron_variant MELA-AU 4 106804544 106804544 single base substitution G A intron_variant MELA-AU 4 106804573 106804573 single base substitution G A intron_variant MELA-AU 4 106804624 106804624 single base substitution C T intron_variant MELA-AU 4 106804631 106804631 single base substitution G A intron_variant MELA-AU 4 106804735 106804735 single base substitution C T intron_variant MELA-AU 4 106805039 106805039 single base substitution G A intron_variant MELA-AU 4 106805050 106805050 single base substitution C T intron_variant MELA-AU 4 106805357 106805357 single base substitution G A intron_variant MELA-AU 4 106805554 106805555 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 106805560 106805560 single base substitution C T intron_variant MELA-AU 4 106805578 106805578 single base substitution C T intron_variant MELA-AU 4 106805599 106805599 single base substitution C T intron_variant MELA-AU 4 106805661 106805661 insertion of <=200bp - ACAG intron_variant MELA-AU 4 106805839 106805839 single base substitution G A intron_variant MELA-AU 4 106805852 106805852 single base substitution C T intron_variant MELA-AU 4 106806148 106806148 single base substitution T A intron_variant MELA-AU 4 106806315 106806315 single base substitution T C intron_variant MELA-AU 4 106806769 106806769 single base substitution G A intron_variant MELA-AU 4 106806922 106806922 single base substitution G A intron_variant MELA-AU 4 106806923 106806923 single base substitution A G intron_variant MELA-AU 4 106806971 106806971 single base substitution G A intron_variant MELA-AU 4 106806972 106806972 single base substitution G A intron_variant MELA-AU 4 106807028 106807028 single base substitution C T intron_variant MELA-AU 4 106807043 106807043 single base substitution G A intron_variant MELA-AU 4 106807089 106807089 single base substitution G A intron_variant MELA-AU 4 106807362 106807362 single base substitution G A intron_variant MELA-AU 4 106807383 106807383 single base substitution G A intron_variant MELA-AU 4 106807475 106807475 single base substitution T C intron_variant MELA-AU 4 106807957 106807957 single base substitution G A intron_variant MELA-AU 4 106808057 106808057 single base substitution G A intron_variant MELA-AU 4 106808145 106808145 single base substitution C T intron_variant MELA-AU 4 106808395 106808395 single base substitution T C intron_variant MELA-AU 4 106808824 106808824 single base substitution T A intron_variant MELA-AU 4 106809039 106809039 deletion of <=200bp T - intron_variant MELA-AU 4 106809518 106809518 single base substitution A T intron_variant MELA-AU 4 106809527 106809527 deletion of <=200bp T - intron_variant MELA-AU 4 106809645 106809645 single base substitution C T intron_variant MELA-AU 4 106809741 106809741 single base substitution C T intron_variant MELA-AU 4 106809840 106809840 single base substitution A T intron_variant MELA-AU 4 106809937 106809937 single base substitution A C intron_variant MELA-AU 4 106810090 106810090 single base substitution C T intron_variant MELA-AU 4 106810100 106810100 single base substitution C T intron_variant MELA-AU 4 106810163 106810163 single base substitution G A intron_variant MELA-AU 4 106810266 106810266 single base substitution C T intron_variant MELA-AU 4 106810334 106810334 single base substitution T C intron_variant MELA-AU 4 106810590 106810590 single base substitution G A intron_variant MELA-AU 4 106810615 106810615 single base substitution C G intron_variant MELA-AU 4 106810671 106810671 single base substitution G A intron_variant MELA-AU 4 106810890 106810890 single base substitution G A intron_variant MELA-AU 4 106810925 106810925 single base substitution G A intron_variant MELA-AU 4 106810969 106810969 single base substitution C T intron_variant MELA-AU 4 106810978 106810978 single base substitution G A intron_variant MELA-AU 4 106811141 106811141 single base substitution C T intron_variant MELA-AU 4 106811458 106811458 single base substitution C T intron_variant MELA-AU 4 106811629 106811629 single base substitution G T intron_variant MELA-AU 4 106811846 106811846 single base substitution C T intron_variant MELA-AU 4 106811847 106811847 single base substitution C T intron_variant MELA-AU 4 106812059 106812059 single base substitution G A intron_variant MELA-AU 4 106812132 106812132 single base substitution G A intron_variant MELA-AU 4 106812323 106812323 single base substitution G A intron_variant MELA-AU 4 106812337 106812337 single base substitution G A intron_variant MELA-AU 4 106812599 106812599 single base substitution G A intron_variant MELA-AU 4 106812674 106812674 single base substitution A G intron_variant MELA-AU 4 106812705 106812705 single base substitution G A intron_variant MELA-AU 4 106812862 106812862 single base substitution C T intron_variant MELA-AU 4 106812906 106812906 single base substitution G A intron_variant MELA-AU 4 106812915 106812915 single base substitution G A intron_variant MELA-AU 4 106812936 106812936 single base substitution C T intron_variant MELA-AU 4 106812987 106812987 single base substitution C T intron_variant MELA-AU 4 106813037 106813037 single base substitution C T intron_variant MELA-AU 4 106813066 106813066 single base substitution G A intron_variant MELA-AU 4 106813086 106813086 single base substitution T C intron_variant MELA-AU 4 106813238 106813238 single base substitution A T intron_variant MELA-AU 4 106813284 106813284 single base substitution G A intron_variant MELA-AU 4 106813538 106813538 single base substitution C T intron_variant MELA-AU 4 106813555 106813555 single base substitution C T intron_variant MELA-AU 4 106813597 106813597 single base substitution C T intron_variant MELA-AU 4 106813855 106813855 single base substitution G A intron_variant MELA-AU 4 106814275 106814275 single base substitution G A intron_variant MELA-AU 4 106814375 106814375 single base substitution A G intron_variant MELA-AU 4 106814460 106814460 single base substitution G A intron_variant MELA-AU 4 106814539 106814539 single base substitution G A intron_variant MELA-AU 4 106814748 106814748 single base substitution A G intron_variant MELA-AU 4 106814766 106814766 single base substitution G A intron_variant MELA-AU 4 106814846 106814846 single base substitution G A intron_variant MELA-AU 4 106815083 106815083 single base substitution A T intron_variant MELA-AU 4 106815118 106815118 single base substitution G A intron_variant MELA-AU 4 106815123 106815123 single base substitution T G intron_variant MELA-AU 4 106815129 106815129 single base substitution G A intron_variant MELA-AU 4 106815163 106815163 single base substitution A G intron_variant MELA-AU 4 106815205 106815205 single base substitution T G intron_variant MELA-AU 4 106815426 106815426 single base substitution G A intron_variant MELA-AU 4 106815873 106815873 single base substitution C T intron_variant MELA-AU 4 106816126 106816126 single base substitution T A intron_variant MELA-AU 4 106816256 106816256 single base substitution C T intron_variant MELA-AU 4 106816361 106816361 single base substitution A G intron_variant MELA-AU 4 106816910 106816911 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 106816989 106816989 single base substitution C T 5_prime_UTR_variant MELA-AU 4 106817228 106817228 single base substitution C T upstream_gene_variant MELA-AU 4 106817381 106817381 single base substitution T C upstream_gene_variant MELA-AU 4 106817438 106817438 single base substitution G A upstream_gene_variant MELA-AU 4 106817853 106817853 single base substitution G A upstream_gene_variant MELA-AU 4 106818025 106818025 single base substitution G A upstream_gene_variant MELA-AU 4 106818028 106818028 single base substitution G A upstream_gene_variant MELA-AU 4 106818885 106818885 single base substitution C T upstream_gene_variant MELA-AU 4 106819188 106819188 single base substitution C T upstream_gene_variant MELA-AU 4 106819561 106819561 single base substitution G A upstream_gene_variant MELA-AU 4 106819606 106819606 single base substitution G A upstream_gene_variant MELA-AU 4 106819722 106819722 single base substitution G A upstream_gene_variant MELA-AU 4 106819932 106819932 single base substitution G A upstream_gene_variant MELA-AU 4 106819958 106819958 single base substitution G A upstream_gene_variant MELA-AU 4 106820104 106820104 single base substitution G A upstream_gene_variant MELA-AU 4 106820133 106820133 single base substitution G C upstream_gene_variant MELA-AU 4 106820142 106820142 single base substitution G A upstream_gene_variant MELA-AU 4 106820234 106820234 single base substitution A G upstream_gene_variant MELA-AU 4 106820417 106820417 single base substitution G A upstream_gene_variant MELA-AU 4 106820507 106820507 single base substitution G A upstream_gene_variant MELA-AU 4 106820642 106820642 single base substitution G A upstream_gene_variant MELA-AU 4 106820741 106820741 single base substitution G T upstream_gene_variant MELA-AU 4 106820752 106820752 single base substitution C A upstream_gene_variant MELA-AU 4 106820919 106820919 single base substitution T G upstream_gene_variant MELA-AU 4 106820937 106820937 single base substitution G A upstream_gene_variant MELA-AU 4 106821046 106821047 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 106821324 106821324 single base substitution C T upstream_gene_variant MELA-AU 4 106821499 106821499 single base substitution G A upstream_gene_variant MELA-AU 4 106821686 106821686 single base substitution C T upstream_gene_variant MELA-AU 4 106821706 106821706 single base substitution C T upstream_gene_variant ORCA-IN 4 106599511 106599511 single base substitution T C downstream_gene_variant ORCA-IN 4 106616693 106616693 single base substitution C A downstream_gene_variant ORCA-IN 4 106616693 106616693 single base substitution C A stop_gained E97* 289G>T ORCA-IN 4 106618836 106618836 single base substitution C T downstream_gene_variant ORCA-IN 4 106618836 106618836 single base substitution C T intron_variant ORCA-IN 4 106623709 106623709 single base substitution G A intron_variant ORCA-IN 4 106645763 106645763 single base substitution C A intron_variant ORCA-IN 4 106655837 106655837 single base substitution C T intron_variant ORCA-IN 4 106661821 106661821 single base substitution C T intron_variant ORCA-IN 4 106679693 106679693 single base substitution T C intron_variant ORCA-IN 4 106727443 106727443 single base substitution G C intron_variant ORCA-IN 4 106750607 106750607 single base substitution G T intron_variant ORCA-IN 4 106756836 106756836 single base substitution G C intron_variant ORCA-IN 4 106777920 106777920 single base substitution C T intron_variant OV-AU 4 106602732 106602732 single base substitution T C downstream_gene_variant OV-AU 4 106604427 106604427 single base substitution C G exon_variant OV-AU 4 106604427 106604427 single base substitution C G synonymous_variant S284S 852G>C OV-AU 4 106615829 106615829 single base substitution G C downstream_gene_variant OV-AU 4 106615829 106615829 single base substitution G C intron_variant OV-AU 4 106636987 106636987 single base substitution A G intron_variant OV-AU 4 106643332 106643332 single base substitution C A intron_variant OV-AU 4 106647795 106647795 single base substitution G T intron_variant OV-AU 4 106648535 106648535 single base substitution G T intron_variant OV-AU 4 106648537 106648537 single base substitution T C intron_variant OV-AU 4 106684289 106684289 single base substitution T A intron_variant OV-AU 4 106685944 106685944 single base substitution T C intron_variant OV-AU 4 106690363 106690363 single base substitution A G intron_variant OV-AU 4 106692152 106692152 single base substitution A G intron_variant OV-AU 4 106697553 106697553 single base substitution T A intron_variant OV-AU 4 106698915 106698915 single base substitution G C intron_variant OV-AU 4 106702931 106702931 single base substitution A C intron_variant OV-AU 4 106718620 106718620 single base substitution C A intron_variant OV-AU 4 106734168 106734168 single base substitution G A intron_variant OV-AU 4 106740389 106740389 single base substitution A C intron_variant OV-AU 4 106746292 106746292 single base substitution T G intron_variant OV-AU 4 106746412 106746412 single base substitution G A intron_variant OV-AU 4 106747630 106747630 single base substitution A G intron_variant OV-AU 4 106750009 106750009 single base substitution G T intron_variant OV-AU 4 106766010 106766010 single base substitution A C intron_variant OV-AU 4 106768614 106768614 single base substitution A C intron_variant OV-AU 4 106784078 106784078 single base substitution C G intron_variant OV-AU 4 106791189 106791189 single base substitution A G intron_variant OV-AU 4 106791789 106791789 single base substitution C G intron_variant OV-AU 4 106793286 106793286 single base substitution A C intron_variant OV-AU 4 106793603 106793603 single base substitution T C intron_variant OV-AU 4 106806599 106806599 single base substitution G A intron_variant OV-AU 4 106814411 106814411 single base substitution G A intron_variant OV-AU 4 106822069 106822069 single base substitution A G upstream_gene_variant PACA-AU 4 106599458 106599458 single base substitution C T downstream_gene_variant PACA-AU 4 106600519 106600519 single base substitution A C downstream_gene_variant PACA-AU 4 106600966 106600966 single base substitution A T downstream_gene_variant PACA-AU 4 106608506 106608506 single base substitution T G intron_variant PACA-AU 4 106608506 106608506 single base substitution T G upstream_gene_variant PACA-AU 4 106613268 106613268 single base substitution A C downstream_gene_variant PACA-AU 4 106613268 106613268 single base substitution A C missense_variant N174K 522T>G PACA-AU 4 106620868 106620868 single base substitution G A downstream_gene_variant PACA-AU 4 106620868 106620868 single base substitution G A intron_variant PACA-AU 4 106621074 106621074 insertion of <=200bp - T downstream_gene_variant PACA-AU 4 106621074 106621074 insertion of <=200bp - T frameshift_variant K30K? PACA-AU 4 106621074 106621074 insertion of <=200bp - T frameshift_variant K43K? PACA-AU 4 106626298 106626298 single base substitution T C intron_variant PACA-AU 4 106631677 106631677 single base substitution C T intron_variant PACA-AU 4 106631677 106631677 single base substitution C T upstream_gene_variant PACA-AU 4 106633542 106633542 single base substitution A C intron_variant PACA-AU 4 106633542 106633542 single base substitution A C upstream_gene_variant PACA-AU 4 106645749 106645749 single base substitution A G intron_variant PACA-AU 4 106648179 106648179 single base substitution A G intron_variant PACA-AU 4 106656186 106656186 single base substitution A T intron_variant PACA-AU 4 106657594 106657594 single base substitution A C intron_variant PACA-AU 4 106666525 106666525 single base substitution C T intron_variant PACA-AU 4 106677125 106677125 single base substitution G A intron_variant PACA-AU 4 106687488 106687489 deletion of <=200bp AG - intron_variant PACA-AU 4 106691348 106691348 single base substitution C T intron_variant PACA-AU 4 106695020 106695020 single base substitution T C intron_variant PACA-AU 4 106696522 106696522 single base substitution C T intron_variant PACA-AU 4 106709483 106709486 deletion of <=200bp TAGT - intron_variant PACA-AU 4 106710600 106710600 single base substitution C G intron_variant PACA-AU 4 106712562 106712562 single base substitution A G intron_variant PACA-AU 4 106714451 106714451 single base substitution G C intron_variant PACA-AU 4 106720117 106720117 single base substitution G A intron_variant PACA-AU 4 106722827 106722827 single base substitution A G intron_variant PACA-AU 4 106734271 106734271 single base substitution A G intron_variant PACA-AU 4 106739450 106739450 single base substitution A T intron_variant PACA-AU 4 106740243 106740243 single base substitution G A intron_variant PACA-AU 4 106744624 106744624 single base substitution T C intron_variant PACA-AU 4 106745354 106745354 single base substitution G A intron_variant PACA-AU 4 106750708 106750708 insertion of <=200bp - GT intron_variant PACA-AU 4 106751226 106751226 single base substitution G A intron_variant PACA-AU 4 106762476 106762476 single base substitution G A intron_variant PACA-AU 4 106765916 106765916 single base substitution A G intron_variant PACA-AU 4 106768485 106768485 single base substitution G A intron_variant PACA-AU 4 106772121 106772121 single base substitution G T intron_variant PACA-AU 4 106781681 106781681 single base substitution G C intron_variant PACA-AU 4 106783113 106783113 single base substitution C G intron_variant PACA-AU 4 106786391 106786391 single base substitution T C intron_variant PACA-AU 4 106789597 106789597 single base substitution G A intron_variant PACA-AU 4 106801508 106801508 single base substitution C T intron_variant PACA-AU 4 106804826 106804826 single base substitution A T intron_variant PACA-AU 4 106805661 106805661 insertion of <=200bp - ACAG intron_variant PACA-AU 4 106806318 106806318 single base substitution A C intron_variant PACA-AU 4 106809456 106809456 single base substitution T G intron_variant PACA-AU 4 106819310 106819310 single base substitution T C upstream_gene_variant PACA-AU 4 106819501 106819501 single base substitution C G upstream_gene_variant PACA-CA 4 106601162 106601162 single base substitution C T downstream_gene_variant PACA-CA 4 106601718 106601718 deletion of <=200bp T - downstream_gene_variant PACA-CA 4 106602527 106602527 single base substitution T C downstream_gene_variant PACA-CA 4 106606368 106606368 single base substitution T C intron_variant PACA-CA 4 106608811 106608811 single base substitution C T intron_variant PACA-CA 4 106608811 106608811 single base substitution C T upstream_gene_variant PACA-CA 4 106611264 106611264 single base substitution T C downstream_gene_variant PACA-CA 4 106611264 106611264 single base substitution T C intron_variant PACA-CA 4 106611264 106611264 single base substitution T C upstream_gene_variant PACA-CA 4 106613455 106613455 single base substitution A T downstream_gene_variant PACA-CA 4 106613455 106613455 single base substitution A T intron_variant PACA-CA 4 106621459 106621462 deletion of <=200bp CTAA - intron_variant PACA-CA 4 106621584 106621584 single base substitution T C intron_variant PACA-CA 4 106622919 106622919 single base substitution T A intron_variant PACA-CA 4 106628790 106628790 single base substitution T G intron_variant PACA-CA 4 106632766 106632766 single base substitution T C intron_variant PACA-CA 4 106632766 106632766 single base substitution T C upstream_gene_variant PACA-CA 4 106635125 106635125 single base substitution T C intron_variant PACA-CA 4 106635125 106635125 single base substitution T C upstream_gene_variant PACA-CA 4 106639534 106639534 single base substitution C T intron_variant PACA-CA 4 106640658 106640658 single base substitution C T intron_variant PACA-CA 4 106642414 106642414 single base substitution C A intron_variant PACA-CA 4 106646703 106646703 single base substitution C G intron_variant PACA-CA 4 106647469 106647469 single base substitution G T intron_variant PACA-CA 4 106650221 106650221 single base substitution G A intron_variant PACA-CA 4 106657189 106657189 single base substitution G C intron_variant PACA-CA 4 106657448 106657448 single base substitution G C intron_variant PACA-CA 4 106660702 106660702 single base substitution T C intron_variant PACA-CA 4 106664455 106664455 single base substitution C T intron_variant PACA-CA 4 106664478 106664478 deletion of <=200bp T - intron_variant PACA-CA 4 106665924 106665924 single base substitution G C intron_variant PACA-CA 4 106666525 106666525 single base substitution C T intron_variant PACA-CA 4 106669140 106669140 single base substitution G T intron_variant PACA-CA 4 106671632 106671632 single base substitution A G intron_variant PACA-CA 4 106672502 106672502 single base substitution C T intron_variant PACA-CA 4 106672539 106672539 single base substitution G A intron_variant PACA-CA 4 106672823 106672823 single base substitution C G intron_variant PACA-CA 4 106673763 106673763 single base substitution G T intron_variant PACA-CA 4 106684235 106684235 single base substitution C T intron_variant PACA-CA 4 106692643 106692643 single base substitution A G intron_variant PACA-CA 4 106692657 106692657 single base substitution T C intron_variant PACA-CA 4 106693892 106693892 single base substitution G A intron_variant PACA-CA 4 106696449 106696449 single base substitution T G intron_variant PACA-CA 4 106696638 106696638 single base substitution G T intron_variant PACA-CA 4 106699228 106699228 single base substitution G A intron_variant PACA-CA 4 106702692 106702692 single base substitution C T intron_variant PACA-CA 4 106706021 106706021 single base substitution G A intron_variant PACA-CA 4 106708931 106708931 insertion of <=200bp - C intron_variant PACA-CA 4 106713217 106713217 single base substitution A G intron_variant PACA-CA 4 106713588 106713588 single base substitution C G intron_variant PACA-CA 4 106716538 106716548 deletion of <=200bp AGTATTTATGA - intron_variant PACA-CA 4 106716796 106716796 single base substitution G A intron_variant PACA-CA 4 106718791 106718791 single base substitution G A intron_variant PACA-CA 4 106720571 106720571 single base substitution G T intron_variant PACA-CA 4 106727168 106727168 single base substitution G A intron_variant PACA-CA 4 106734353 106734353 single base substitution G T intron_variant PACA-CA 4 106739587 106739587 single base substitution G A intron_variant PACA-CA 4 106751685 106751685 single base substitution A G intron_variant PACA-CA 4 106753643 106753643 single base substitution A G intron_variant PACA-CA 4 106754923 106754923 single base substitution G T intron_variant PACA-CA 4 106755264 106755264 single base substitution A C intron_variant PACA-CA 4 106755326 106755326 single base substitution C G intron_variant PACA-CA 4 106756571 106756571 single base substitution G C intron_variant PACA-CA 4 106757149 106757149 single base substitution C T intron_variant PACA-CA 4 106758208 106758208 single base substitution C G intron_variant PACA-CA 4 106761358 106761358 single base substitution G A missense_variant S7L 20C>T PACA-CA 4 106763426 106763426 single base substitution A C intron_variant PACA-CA 4 106765431 106765431 deletion of <=200bp A - intron_variant PACA-CA 4 106768899 106768899 insertion of <=200bp - T intron_variant PACA-CA 4 106769824 106769824 single base substitution G A intron_variant PACA-CA 4 106772106 106772106 single base substitution A G intron_variant PACA-CA 4 106772569 106772569 single base substitution A C intron_variant PACA-CA 4 106773272 106773272 insertion of <=200bp - TTA intron_variant PACA-CA 4 106779853 106779853 single base substitution C T intron_variant PACA-CA 4 106782494 106782494 single base substitution G A intron_variant PACA-CA 4 106786352 106786352 single base substitution T G intron_variant PACA-CA 4 106786927 106786927 single base substitution C T intron_variant PACA-CA 4 106787392 106787392 insertion of <=200bp - AATA intron_variant PACA-CA 4 106788843 106788843 single base substitution C T intron_variant PACA-CA 4 106789714 106789714 single base substitution G C intron_variant PACA-CA 4 106795099 106795099 single base substitution A G intron_variant PACA-CA 4 106796809 106796809 single base substitution T G intron_variant PACA-CA 4 106797282 106797282 single base substitution G A intron_variant PACA-CA 4 106799155 106799155 single base substitution G C intron_variant PACA-CA 4 106800367 106800367 single base substitution G C intron_variant PACA-CA 4 106803226 106803226 deletion of <=200bp A - intron_variant PACA-CA 4 106807853 106807853 single base substitution C A intron_variant PACA-CA 4 106808096 106808096 single base substitution T C intron_variant PACA-CA 4 106813066 106813066 single base substitution G T intron_variant PACA-CA 4 106816554 106816554 single base substitution T A intron_variant PACA-CA 4 106818507 106818507 single base substitution T G upstream_gene_variant PACA-CA 4 106819296 106819296 single base substitution A G upstream_gene_variant PACA-CA 4 106819854 106819854 single base substitution T G upstream_gene_variant PAEN-AU 4 106656820 106656820 single base substitution A G intron_variant PAEN-AU 4 106669442 106669442 single base substitution A G intron_variant PAEN-AU 4 106709834 106709834 single base substitution A G intron_variant PAEN-AU 4 106728883 106728883 single base substitution C G intron_variant PAEN-AU 4 106754592 106754592 single base substitution C T intron_variant PAEN-AU 4 106755445 106755445 single base substitution T G intron_variant PAEN-AU 4 106763888 106763888 single base substitution C G intron_variant PAEN-AU 4 106786744 106786744 single base substitution C A intron_variant PAEN-AU 4 106786746 106786746 single base substitution A G intron_variant PAEN-AU 4 106786752 106786752 single base substitution G A intron_variant PAEN-IT 4 106630004 106630004 single base substitution A G 5_prime_UTR_variant PAEN-IT 4 106630004 106630004 single base substitution A G intron_variant PAEN-IT 4 106630004 106630004 single base substitution A G upstream_gene_variant PAEN-IT 4 106636648 106636648 single base substitution G A intron_variant PAEN-IT 4 106682254 106682254 single base substitution G C intron_variant PAEN-IT 4 106696475 106696475 single base substitution C T intron_variant PAEN-IT 4 106744092 106744092 single base substitution C A intron_variant PBCA-DE 4 106599085 106599086 deletion of <=200bp TT - downstream_gene_variant PBCA-DE 4 106599849 106599849 single base substitution T G downstream_gene_variant PBCA-DE 4 106601662 106601665 deletion of <=200bp AATA - downstream_gene_variant PBCA-DE 4 106601869 106601869 single base substitution C T downstream_gene_variant PBCA-DE 4 106604786 106604786 single base substitution G C intron_variant PBCA-DE 4 106618779 106618779 single base substitution A T downstream_gene_variant PBCA-DE 4 106618779 106618779 single base substitution A T intron_variant PBCA-DE 4 106619233 106619233 single base substitution C T downstream_gene_variant PBCA-DE 4 106619233 106619233 single base substitution C T intron_variant PBCA-DE 4 106621864 106621865 deletion of <=200bp AC - intron_variant PBCA-DE 4 106623252 106623252 deletion of <=200bp G - intron_variant PBCA-DE 4 106624045 106624045 single base substitution T G intron_variant PBCA-DE 4 106624045 106624045 single base substitution T G splice_region_variant PBCA-DE 4 106629925 106629925 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PBCA-DE 4 106629925 106629925 single base substitution G A intron_variant PBCA-DE 4 106629925 106629925 single base substitution G A upstream_gene_variant PBCA-DE 4 106643539 106643539 single base substitution T C intron_variant PBCA-DE 4 106652843 106652843 insertion of <=200bp - GA intron_variant PBCA-DE 4 106652845 106652847 deletion of <=200bp TTC - intron_variant PBCA-DE 4 106665471 106665471 single base substitution G T intron_variant PBCA-DE 4 106671171 106671171 single base substitution A G intron_variant PBCA-DE 4 106672547 106672547 single base substitution A G intron_variant PBCA-DE 4 106675941 106675941 single base substitution G A intron_variant PBCA-DE 4 106687708 106687708 insertion of <=200bp - T intron_variant PBCA-DE 4 106701805 106701805 single base substitution A G intron_variant PBCA-DE 4 106713582 106713582 single base substitution G A intron_variant PBCA-DE 4 106714050 106714050 deletion of <=200bp C - intron_variant PBCA-DE 4 106714575 106714575 single base substitution T A intron_variant PBCA-DE 4 106720770 106720770 single base substitution G A intron_variant PBCA-DE 4 106721632 106721632 single base substitution G T intron_variant PBCA-DE 4 106724254 106724254 single base substitution T A intron_variant PBCA-DE 4 106728716 106728716 single base substitution T G intron_variant PBCA-DE 4 106741039 106741039 insertion of <=200bp - A intron_variant PBCA-DE 4 106742277 106742277 single base substitution T C intron_variant PBCA-DE 4 106744643 106744643 single base substitution T A intron_variant PBCA-DE 4 106746085 106746085 single base substitution G A intron_variant PBCA-DE 4 106754952 106754952 single base substitution G A intron_variant PBCA-DE 4 106774352 106774352 single base substitution G A intron_variant PBCA-DE 4 106777903 106777903 single base substitution C A intron_variant PBCA-DE 4 106795680 106795680 insertion of <=200bp - TA intron_variant PBCA-DE 4 106798869 106798869 insertion of <=200bp - A intron_variant PBCA-DE 4 106805661 106805661 insertion of <=200bp - ACAG intron_variant PBCA-DE 4 106810048 106810048 single base substitution G A intron_variant PBCA-DE 4 106818507 106818507 insertion of <=200bp - T upstream_gene_variant PBCA-DE 4 106820302 106820302 single base substitution T G upstream_gene_variant PRAD-CA 4 106602625 106602625 single base substitution T C downstream_gene_variant PRAD-CA 4 106615332 106615332 single base substitution G A downstream_gene_variant PRAD-CA 4 106615332 106615332 single base substitution G A intron_variant PRAD-CA 4 106649178 106649178 single base substitution T G intron_variant PRAD-CA 4 106667704 106667704 single base substitution T G intron_variant PRAD-CA 4 106691527 106691527 single base substitution T C intron_variant PRAD-CA 4 106691529 106691529 single base substitution C T intron_variant PRAD-CA 4 106708342 106708342 single base substitution T C intron_variant PRAD-CA 4 106718237 106718237 single base substitution A G intron_variant PRAD-CA 4 106728083 106728083 single base substitution C A intron_variant PRAD-CA 4 106744847 106744847 single base substitution C A intron_variant PRAD-CA 4 106753726 106753726 single base substitution G A intron_variant PRAD-CA 4 106769997 106769997 single base substitution G A intron_variant PRAD-CA 4 106798879 106798879 single base substitution A G intron_variant PRAD-CA 4 106819469 106819469 single base substitution G C upstream_gene_variant PRAD-UK 4 106615592 106615592 single base substitution C T downstream_gene_variant PRAD-UK 4 106615592 106615592 single base substitution C T intron_variant PRAD-UK 4 106621601 106621601 deletion of <=200bp T - intron_variant PRAD-UK 4 106630385 106630385 deletion of <=200bp C - intron_variant PRAD-UK 4 106630385 106630385 deletion of <=200bp C - upstream_gene_variant PRAD-UK 4 106637834 106637834 single base substitution C T intron_variant PRAD-UK 4 106643498 106643498 single base substitution T C intron_variant PRAD-UK 4 106654218 106654218 single base substitution T G intron_variant PRAD-UK 4 106658332 106658332 single base substitution A T intron_variant PRAD-UK 4 106719433 106719468 deletion of <=200bp TCTTCTGAAGTCTTAAACCCCTCAAAATGTCATCCA - intron_variant PRAD-UK 4 106720755 106720755 single base substitution T C intron_variant PRAD-UK 4 106722031 106722031 single base substitution T A intron_variant PRAD-UK 4 106736802 106736802 single base substitution C T intron_variant PRAD-UK 4 106766931 106766931 single base substitution A G intron_variant PRAD-UK 4 106783848 106783848 single base substitution C G intron_variant PRAD-UK 4 106789423 106789423 single base substitution T A intron_variant PRAD-UK 4 106789424 106789424 single base substitution T G intron_variant PRAD-UK 4 106789647 106789647 deletion of <=200bp A - intron_variant PRAD-UK 4 106793142 106793142 single base substitution G C intron_variant PRAD-UK 4 106795196 106795196 single base substitution A T intron_variant PRAD-UK 4 106796382 106796382 single base substitution G A intron_variant PRAD-UK 4 106799654 106799654 insertion of <=200bp - A intron_variant PRAD-UK 4 106802575 106802575 single base substitution C T intron_variant PRAD-UK 4 106809641 106809641 single base substitution A G intron_variant PRAD-UK 4 106814877 106814877 single base substitution C T intron_variant PRAD-UK 4 106820311 106820312 deletion of <=200bp AG - upstream_gene_variant PRAD-US 4 106607868 106607868 single base substitution A G exon_variant PRAD-US 4 106607868 106607868 single base substitution A G missense_variant F262S 785T>C READ-US 4 106746854 106746854 single base substitution T G intron_variant READ-US 4 106746865 106746865 single base substitution C T intron_variant RECA-EU 4 106599599 106599599 single base substitution T C downstream_gene_variant RECA-EU 4 106600454 106600454 single base substitution C A downstream_gene_variant RECA-EU 4 106603582 106603582 single base substitution A G downstream_gene_variant RECA-EU 4 106607100 106607100 single base substitution A G intron_variant RECA-EU 4 106614212 106614212 single base substitution T C downstream_gene_variant RECA-EU 4 106614212 106614212 single base substitution T C intron_variant RECA-EU 4 106637524 106637524 single base substitution A G intron_variant RECA-EU 4 106651462 106651462 single base substitution G C intron_variant RECA-EU 4 106655610 106655610 single base substitution A G intron_variant RECA-EU 4 106656318 106656318 single base substitution T A intron_variant RECA-EU 4 106661357 106661357 single base substitution A T intron_variant RECA-EU 4 106661550 106661550 single base substitution C T intron_variant RECA-EU 4 106665408 106665408 single base substitution T G intron_variant RECA-EU 4 106680316 106680316 single base substitution A T intron_variant RECA-EU 4 106710339 106710339 single base substitution G A intron_variant RECA-EU 4 106714480 106714480 single base substitution C A intron_variant RECA-EU 4 106739898 106739898 single base substitution A T intron_variant RECA-EU 4 106753612 106753612 single base substitution C T intron_variant RECA-EU 4 106771197 106771197 single base substitution A G intron_variant RECA-EU 4 106783134 106783134 single base substitution C G intron_variant RECA-EU 4 106820782 106820782 single base substitution C A upstream_gene_variant SKCA-BR 4 106598857 106598857 single base substitution C T downstream_gene_variant SKCA-BR 4 106604954 106604954 single base substitution T C intron_variant SKCA-BR 4 106610205 106610205 single base substitution A C downstream_gene_variant SKCA-BR 4 106610205 106610205 single base substitution A C intron_variant SKCA-BR 4 106610205 106610205 single base substitution A C upstream_gene_variant SKCA-BR 4 106611260 106611260 single base substitution A C downstream_gene_variant SKCA-BR 4 106611260 106611260 single base substitution A C intron_variant SKCA-BR 4 106611260 106611260 single base substitution A C upstream_gene_variant SKCA-BR 4 106611615 106611617 deletion of <=200bp CAT - downstream_gene_variant SKCA-BR 4 106611615 106611617 deletion of <=200bp CAT - intron_variant SKCA-BR 4 106611615 106611617 deletion of <=200bp CAT - upstream_gene_variant SKCA-BR 4 106611617 106611617 single base substitution T C downstream_gene_variant SKCA-BR 4 106611617 106611617 single base substitution T C intron_variant SKCA-BR 4 106611617 106611617 single base substitution T C upstream_gene_variant SKCA-BR 4 106615490 106615490 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 4 106615490 106615490 insertion of <=200bp - AT intron_variant SKCA-BR 4 106623195 106623195 single base substitution T C intron_variant SKCA-BR 4 106624463 106624463 single base substitution T C intron_variant SKCA-BR 4 106628264 106628264 single base substitution A C intron_variant SKCA-BR 4 106628473 106628473 insertion of <=200bp - AT intron_variant SKCA-BR 4 106629009 106629009 single base substitution G A intron_variant SKCA-BR 4 106629905 106629905 single base substitution G A 5_prime_UTR_variant SKCA-BR 4 106629905 106629905 single base substitution G A intron_variant SKCA-BR 4 106629905 106629905 single base substitution G A upstream_gene_variant SKCA-BR 4 106629909 106629909 single base substitution A G 5_prime_UTR_variant SKCA-BR 4 106629909 106629909 single base substitution A G intron_variant SKCA-BR 4 106629909 106629909 single base substitution A G upstream_gene_variant SKCA-BR 4 106629949 106629949 single base substitution C T 5_prime_UTR_variant SKCA-BR 4 106629949 106629949 single base substitution C T intron_variant SKCA-BR 4 106629949 106629949 single base substitution C T upstream_gene_variant SKCA-BR 4 106629952 106629952 single base substitution T G 5_prime_UTR_variant SKCA-BR 4 106629952 106629952 single base substitution T G intron_variant SKCA-BR 4 106629952 106629952 single base substitution T G upstream_gene_variant SKCA-BR 4 106631393 106631393 single base substitution T A intron_variant SKCA-BR 4 106631393 106631393 single base substitution T A upstream_gene_variant SKCA-BR 4 106632561 106632561 insertion of <=200bp - GT intron_variant SKCA-BR 4 106632561 106632561 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 4 106635620 106635620 insertion of <=200bp - AT intron_variant SKCA-BR 4 106637660 106637660 single base substitution T G intron_variant SKCA-BR 4 106645576 106645576 single base substitution C T intron_variant SKCA-BR 4 106649835 106649837 deletion of <=200bp GAT - intron_variant SKCA-BR 4 106650957 106650957 single base substitution T A intron_variant SKCA-BR 4 106651041 106651041 single base substitution C T intron_variant SKCA-BR 4 106651937 106651937 single base substitution C T intron_variant SKCA-BR 4 106654990 106654990 single base substitution C T intron_variant SKCA-BR 4 106655472 106655472 single base substitution C T intron_variant SKCA-BR 4 106658519 106658519 single base substitution C T intron_variant SKCA-BR 4 106660955 106660955 single base substitution T A intron_variant SKCA-BR 4 106662052 106662052 single base substitution T C intron_variant SKCA-BR 4 106662071 106662071 single base substitution C T intron_variant SKCA-BR 4 106670207 106670207 single base substitution A G intron_variant SKCA-BR 4 106676243 106676243 single base substitution A T intron_variant SKCA-BR 4 106678930 106678930 single base substitution C T intron_variant SKCA-BR 4 106686861 106686861 single base substitution T C intron_variant SKCA-BR 4 106686976 106686976 single base substitution C G intron_variant SKCA-BR 4 106689418 106689418 single base substitution A C intron_variant SKCA-BR 4 106689444 106689444 single base substitution C T intron_variant SKCA-BR 4 106690390 106690398 deletion of <=200bp GCACACACA - intron_variant SKCA-BR 4 106693022 106693022 single base substitution T C intron_variant SKCA-BR 4 106696869 106696869 single base substitution C T intron_variant SKCA-BR 4 106697077 106697077 single base substitution T A intron_variant SKCA-BR 4 106697179 106697179 single base substitution T A intron_variant SKCA-BR 4 106701386 106701386 single base substitution C T intron_variant SKCA-BR 4 106705156 106705156 single base substitution G A intron_variant SKCA-BR 4 106712346 106712346 single base substitution C T intron_variant SKCA-BR 4 106714565 106714565 insertion of <=200bp - GT intron_variant SKCA-BR 4 106715195 106715195 single base substitution C T intron_variant SKCA-BR 4 106715996 106716004 deletion of <=200bp TTATCTATC - intron_variant SKCA-BR 4 106718202 106718202 insertion of <=200bp - CGTGT intron_variant SKCA-BR 4 106718654 106718654 single base substitution T C intron_variant SKCA-BR 4 106720971 106720971 insertion of <=200bp - CA intron_variant SKCA-BR 4 106726604 106726604 single base substitution C T intron_variant SKCA-BR 4 106728199 106728199 single base substitution C T intron_variant SKCA-BR 4 106734827 106734827 single base substitution C T intron_variant SKCA-BR 4 106739247 106739247 single base substitution C T intron_variant SKCA-BR 4 106739431 106739431 single base substitution C T intron_variant SKCA-BR 4 106739942 106739942 single base substitution G A intron_variant SKCA-BR 4 106741288 106741289 deletion of <=200bp AT - intron_variant SKCA-BR 4 106741985 106741985 single base substitution C G intron_variant SKCA-BR 4 106743221 106743221 single base substitution C T intron_variant SKCA-BR 4 106744249 106744249 single base substitution C T intron_variant SKCA-BR 4 106746545 106746545 single base substitution C T intron_variant SKCA-BR 4 106754055 106754055 single base substitution G A intron_variant SKCA-BR 4 106756107 106756107 single base substitution G A intron_variant SKCA-BR 4 106758433 106758433 single base substitution C T intron_variant SKCA-BR 4 106763650 106763650 single base substitution T C intron_variant SKCA-BR 4 106765425 106765426 deletion of <=200bp TA - intron_variant SKCA-BR 4 106765430 106765430 insertion of <=200bp - GA intron_variant SKCA-BR 4 106765818 106765818 single base substitution G A intron_variant SKCA-BR 4 106767555 106767555 single base substitution C T intron_variant SKCA-BR 4 106769235 106769235 single base substitution C T intron_variant SKCA-BR 4 106769311 106769311 single base substitution T G intron_variant SKCA-BR 4 106771376 106771376 single base substitution A C intron_variant SKCA-BR 4 106773109 106773109 single base substitution T C intron_variant SKCA-BR 4 106773413 106773413 single base substitution C T intron_variant SKCA-BR 4 106775711 106775711 insertion of <=200bp - AT intron_variant SKCA-BR 4 106775714 106775714 single base substitution C T intron_variant SKCA-BR 4 106777505 106777505 single base substitution G A intron_variant SKCA-BR 4 106780743 106780743 single base substitution G C intron_variant SKCA-BR 4 106781859 106781859 single base substitution G A intron_variant SKCA-BR 4 106782329 106782329 single base substitution G A intron_variant SKCA-BR 4 106785586 106785586 single base substitution C T intron_variant SKCA-BR 4 106786181 106786181 single base substitution G A intron_variant SKCA-BR 4 106788205 106788205 single base substitution C T intron_variant SKCA-BR 4 106789115 106789115 single base substitution A G intron_variant SKCA-BR 4 106790693 106790693 single base substitution G T intron_variant SKCA-BR 4 106790912 106790912 single base substitution C T intron_variant SKCA-BR 4 106790938 106790939 deletion of <=200bp TC - intron_variant SKCA-BR 4 106791046 106791046 single base substitution C T intron_variant SKCA-BR 4 106793800 106793800 single base substitution G A intron_variant SKCA-BR 4 106795153 106795153 single base substitution C T intron_variant SKCA-BR 4 106796829 106796829 single base substitution C G intron_variant SKCA-BR 4 106797256 106797256 single base substitution G A intron_variant SKCA-BR 4 106797627 106797627 single base substitution C G intron_variant SKCA-BR 4 106799487 106799487 single base substitution A G intron_variant SKCA-BR 4 106801040 106801040 single base substitution T C intron_variant SKCA-BR 4 106801193 106801193 single base substitution G A intron_variant SKCA-BR 4 106801543 106801543 single base substitution C T intron_variant SKCA-BR 4 106803190 106803190 single base substitution C T intron_variant SKCA-BR 4 106803334 106803334 single base substitution A C intron_variant SKCA-BR 4 106803644 106803644 single base substitution G A intron_variant SKCA-BR 4 106804131 106804131 single base substitution G A intron_variant SKCA-BR 4 106804782 106804783 deletion of <=200bp TA - intron_variant SKCA-BR 4 106805839 106805839 single base substitution G A intron_variant SKCA-BR 4 106810224 106810224 single base substitution C T intron_variant SKCA-BR 4 106810398 106810398 single base substitution G A intron_variant SKCA-BR 4 106810812 106810812 single base substitution C T intron_variant SKCA-BR 4 106811446 106811446 single base substitution C T intron_variant SKCA-BR 4 106812681 106812681 single base substitution C A intron_variant SKCA-BR 4 106814206 106814206 single base substitution G A intron_variant SKCA-BR 4 106814364 106814364 single base substitution A G intron_variant SKCA-BR 4 106816529 106816529 single base substitution A C intron_variant SKCA-BR 4 106817120 106817120 single base substitution C T 5_prime_UTR_variant SKCA-BR 4 106819397 106819398 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 4 106819451 106819485 deletion of <=200bp CTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTG - upstream_gene_variant SKCA-BR 4 106819485 106819485 single base substitution G C upstream_gene_variant SKCA-BR 4 106820053 106820053 single base substitution T G upstream_gene_variant SKCA-BR 4 106820948 106820948 single base substitution C T upstream_gene_variant SKCM-US 4 106604163 106604163 single base substitution G A downstream_gene_variant SKCM-US 4 106604163 106604163 single base substitution G A synonymous_variant G372G 1116C>T SKCM-US 4 106614568 106614568 single base substitution G A downstream_gene_variant SKCM-US 4 106614568 106614568 single base substitution G A missense_variant P129S 385C>T SKCM-US 4 106621017 106621017 single base substitution G A downstream_gene_variant SKCM-US 4 106621017 106621017 single base substitution G A missense_variant P49L 146C>T SKCM-US 4 106638778 106638778 single base substitution C T intron_variant SKCM-US 4 106640287 106640287 single base substitution C T intron_variant SKCM-US 4 106640409 106640409 single base substitution G A intron_variant SKCM-US 4 106640672 106640672 single base substitution C T intron_variant SKCM-US 4 106647957 106647957 single base substitution A G intron_variant SKCM-US 4 106755689 106755689 single base substitution C T intron_variant SKCM-US 4 106755698 106755698 single base substitution C T intron_variant SKCM-US 4 106766630 106766630 single base substitution C T intron_variant SKCM-US 4 106766676 106766676 single base substitution C T intron_variant SKCM-US 4 106766726 106766726 single base substitution C G intron_variant SKCM-US 4 106819106 106819106 single base substitution G A upstream_gene_variant STAD-US 4 106613138 106613138 deletion of <=200bp T - downstream_gene_variant STAD-US 4 106613138 106613138 deletion of <=200bp T - frameshift_variant R218 STAD-US 4 106613138 106613138 deletion of <=200bp T - upstream_gene_variant STAD-US 4 106614632 106614632 single base substitution G A downstream_gene_variant STAD-US 4 106614632 106614632 single base substitution G A synonymous_variant D107D 321C>T STAD-US 4 106616707 106616707 single base substitution A C downstream_gene_variant STAD-US 4 106616707 106616707 single base substitution A C missense_variant V92G 275T>G STAD-US 4 106621122 106621122 deletion of <=200bp A - frameshift_variant L14 STAD-US 4 106621122 106621122 deletion of <=200bp A - frameshift_variant L27 STAD-US 4 106621122 106621122 insertion of <=200bp - A frameshift_variant L14F? STAD-US 4 106621122 106621122 insertion of <=200bp - A frameshift_variant L27F? STAD-US 4 106638749 106638749 single base substitution G A intron_variant STAD-US 4 106639056 106639056 single base substitution C T intron_variant STAD-US 4 106640591 106640591 single base substitution C A intron_variant STAD-US 4 106744429 106744429 single base substitution T A intron_variant STAD-US 4 106746920 106746920 single base substitution C T intron_variant STAD-US 4 106755632 106755632 single base substitution T C intron_variant STAD-US 4 106819158 106819158 single base substitution C T upstream_gene_variant THCA-SA 4 106604191 106604191 single base substitution G A downstream_gene_variant THCA-SA 4 106604191 106604191 single base substitution G A missense_variant P363L 1088C>T UCEC-US 4 106604429 106604429 single base substitution A T exon_variant UCEC-US 4 106604429 106604429 single base substitution A T missense_variant S284T 850T>A UCEC-US 4 106607862 106607862 single base substitution C A exon_variant UCEC-US 4 106607862 106607862 single base substitution C A missense_variant R264I 791G>T UCEC-US 4 106613190 106613190 single base substitution C T downstream_gene_variant UCEC-US 4 106613190 106613190 single base substitution C T synonymous_variant A200A 600G>A UCEC-US 4 106613190 106613190 single base substitution C T upstream_gene_variant UCEC-US 4 106614540 106614540 single base substitution A C downstream_gene_variant UCEC-US 4 106614540 106614540 single base substitution A C stop_gained L138* 413T>G UCEC-US 4 106616710 106616710 single base substitution T C downstream_gene_variant UCEC-US 4 106616710 106616710 single base substitution T C missense_variant K91R 272A>G UCEC-US 4 106639142 106639142 single base substitution G T intron_variant UCEC-US 4 106640256 106640256 single base substitution T C intron_variant UCEC-US 4 106640293 106640293 single base substitution A G intron_variant UCEC-US 4 106640330 106640330 single base substitution G T intron_variant UCEC-US 4 106640438 106640438 single base substitution G T intron_variant UCEC-US 4 106647940 106647940 single base substitution G A intron_variant UCEC-US 4 106746865 106746865 single base substitution C T intron_variant UCEC-US 4 106746946 106746946 single base substitution T C intron_variant UCEC-US 4 106759038 106759038 single base substitution T G intron_variant UCEC-US 4 106763261 106763261 single base substitution G A intron_variant UCEC-US 4 106763287 106763287 single base substitution C T intron_variant UCEC-US 4 106819082 106819082 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T3049 COSM4692730 c.41_42insT p.L14fs*12 Insertion - Frameshift 4:105699964-105699965 - TCGA-D8-A27G-01 COSM3824904 c.1168C>T p.P390S Substitution - Missense 4:105682954-105682954 - TCGA-EE-A3AG-06 COSM3598880 c.385C>T p.P129S Substitution - Missense 4:105693411-105693411 - 8015553 COSM1159115 c.705_712delTTCTGTAA p.V237fs*8 Deletion - Frameshift 4:105686784-105686791 - TCGA-AX-A05Z-01 COSM1049787 c.791G>T p.R264I Substitution - Missense 4:105686705-105686705 - SJMB008 COSM255465 c.1064C>T p.T355M Substitution - Missense 4:105683058-105683058 - C086 COSM5532761 c.134C>T p.S45F Substitution - Missense 4:105699872-105699872 - TCGA-CH-5764-01 COSM1131311 c.785T>C p.F262S Substitution - Missense 4:105686711-105686711 - H1299 COSM1193463 c.1324C>G p.L442V Substitution - Missense 4:105682798-105682798 - CHC703T COSM4957471 c.21G>A p.L7L Substitution - coding silent 4:105699985-105699985 - TCGA-AA-3672-01 COSM266713 c.804G>T p.K268N Substitution - Missense 4:105686692-105686692 - OSCC-GB_00320111 COSM3714790 c.289G>T p.E97* Substitution - Nonsense 4:105695536-105695536 - Pat_46_B COSM5865532 c.1127C>T p.S376L Substitution - Missense 4:105682995-105682995 - UM-SCC-17B COSM4598772 c.1366G>A p.A456T Substitution - Missense 4:105682756-105682756 - SJMB008 COSM255465 c.1064C>T p.T355M Substitution - Missense 4:105683058-105683058 - TCGA-BT-A20J-01 COSM404733 c.337G>C p.D113H Substitution - Missense 4:105693459-105693459 - RK212_C01 COSM3767636 c.693C>T p.A231A Substitution - coding silent 4:105686803-105686803 - YUGASP COSM1686463 c.657+1G>C p.? Unknown 4:105691975-105691975 - TCGA-D1-A17U-01 COSM1049786 c.850T>A p.S284T Substitution - Missense 4:105683272-105683272 - HCC40 COSM1618229 c.667A>G p.T223A Substitution - Missense 4:105686829-105686829 - Pat_41_A COSM2952950 c.41delT p.L14fs*1 Deletion - Frameshift 4:105699965-105699965 - 8047893 COSM3392650 c.522T>G p.N174K Substitution - Missense 4:105692111-105692111 - pfg062T COSM4759865 c.1171A>C p.S391R Substitution - Missense 4:105682951-105682951 - TCGA-FW-A3TU-06 COSM3598879 c.1116C>T p.G372G Substitution - coding silent 4:105683006-105683006 - RKO COSM2952950 c.41delT p.L14fs*1 Deletion - Frameshift 4:105699965-105699965 - T276 COSM2952950 c.41delT p.L14fs*1 Deletion - Frameshift 4:105699965-105699965 - TCGA-BR-8059-01 COSM4121157 c.275T>G p.V92G Substitution - Missense 4:105695550-105695550 - PD6755a COSM1637879 c.832T>A p.S278T Substitution - Missense 4:105683290-105683290 - PTC_441 COSM5957487 c.1088C>T p.P363L Substitution - Missense 4:105683034-105683034 - TCGA-GD-A3OP-01 COSM1309600 c.328G>A p.E110K Substitution - Missense 4:105693468-105693468 - C135 COSM4611131 c.217delA p.I73fs*20 Deletion - Frameshift 4:105695608-105695608 - HCC141 COSM1618228 c.1360A>G p.K454E Substitution - Missense 4:105682762-105682762 - TCGA-Q1-A5R2-01 COSM4850218 c.917C>G p.S306* Substitution - Nonsense 4:105683205-105683205 - CSCC-47-T COSM4514820 c.989C>T p.P330L Substitution - Missense 4:105683133-105683133 - LOVO COSM2952950 c.41delT p.L14fs*1 Deletion - Frameshift 4:105699965-105699965 - TCGA-B4-5844-01 COSM1495692 c.1309T>G p.S437A Substitution - Missense 4:105682813-105682813 - LUAD-D01382 COSM337121 c.1282C>T p.P428S Substitution - Missense 4:105682840-105682840 - TCGA-E9-A22E-01 COSM1309600 c.328G>A p.E110K Substitution - Missense 4:105693468-105693468 - 520 COSM5612139 c.116T>A p.L39* Substitution - Nonsense 4:105699890-105699890 - HCC141T COSM1618228 c.1360A>G p.K454E Substitution - Missense 4:105682762-105682762 - RK308_C01 COSM3767634 c.1197C>T p.S399S Substitution - coding silent 4:105682925-105682925 - TCGA-AN-A0AK-01 COSM3824905 c.66A>G p.S22S Substitution - coding silent 4:105699940-105699940 - TCGA-BR-7715-01 COSM4121156 c.321C>T p.D107D Substitution - coding silent 4:105693475-105693475 - 3844_T COSM3945854 c.1336A>T p.K446* Substitution - Nonsense 4:105682786-105682786 - HCC090T COSM5810714 c.1335G>T p.M445I Substitution - Missense 4:105682787-105682787 - TCGA-28-2502-01 COSM3408970 c.991G>A p.V331M Substitution - Missense 4:105683131-105683131 - Pat_41_B COSM5865533 c.53G>A p.G18D Substitution - Missense 4:105699953-105699953 - TCGA-AX-A0J0-01 COSM1049789 c.413T>G p.L138* Substitution - Nonsense 4:105693383-105693383 - PGBM05PT COSM1580077 c.41T>G p.L14W Substitution - Missense 4:105699965-105699965 - 462 COSM4436870 c.938C>A p.T313K Substitution - Missense 4:105683184-105683184 - LUAD-S01478 COSM404733 c.337G>C p.D113H Substitution - Missense 4:105693459-105693459 - PD11347a COSM5798727 c.648G>A p.M216I Substitution - Missense 4:105691985-105691985 - E12 COSM1666371 c.1202T>C p.L401P Substitution - Missense 4:105682920-105682920 - AOCS-139-1-5 COSM4150403 c.852G>C p.S284S Substitution - coding silent 4:105683270-105683270 - 2492725 COSM5724742 c.1310C>T p.S437L Substitution - Missense 4:105682812-105682812 - TCGA-42-2587-01 COSM1327996 c.425A>T p.D142V Substitution - Missense 4:105693371-105693371 - 32T COSM3714790 c.289G>T p.E97* Substitution - Nonsense 4:105695536-105695536 - 234 COSM3730910 c.409G>C p.D137H Substitution - Missense 4:105693387-105693387 - CHC703T COSM4957471 c.21G>A p.L7L Substitution - coding silent 4:105699985-105699985 - RK190_C01 COSM3767635 c.950A>G p.N317S Substitution - Missense 4:105683172-105683172 - TCGA-FW-A3R5-06 COSM3916917 c.146C>T p.P49L Substitution - Missense 4:105699860-105699860 - 2492724 COSM5724742 c.1310C>T p.S437L Substitution - Missense 4:105682812-105682812 - TCGA-DK-A3IS-01 COSM1309599 c.1347G>A p.Q449Q Substitution - coding silent 4:105682775-105682775 - TCGA-D8-A1JS-01 COSM1485579 c.825A>T p.G275G Substitution - coding silent 4:105683297-105683297 - C32 COSM4619227 c.983A>G p.Q328R Substitution - Missense 4:105683139-105683139 - DN1205A COSM5798727 c.648G>A p.M216I Substitution - Missense 4:105691985-105691985 - TCGA-AZ-4315-01 COSM1426232 c.612C>T p.R204R Substitution - coding silent 4:105692021-105692021 - ICGC_0043 COSM1159115 c.705_712delTTCTGTAA p.V237fs*8 Deletion - Frameshift 4:105686784-105686791 - TCGA-KR-A7K2-01 COSM4909559 c.1366G>T p.A456S Substitution - Missense 4:105682756-105682756 - ESCC_152 COSM5645484 c.137G>A p.S46N Substitution - Missense 4:105699869-105699869 - 2492726 COSM5724742 c.1310C>T p.S437L Substitution - Missense 4:105682812-105682812 - S00936 COSM312013 c.191delA p.N64fs*29 Deletion - Frameshift 4:105695634-105695634 - TCGA-BS-A0UF-01 COSM1049788 c.600G>A p.A200A Substitution - coding silent 4:105692033-105692033 - TCGA-A8-A07L-01 COSM447199 c.507G>A p.M169I Substitution - Missense 4:105692126-105692126 - T3064 COSM4692729 c.191_192insA p.N64fs*5 Insertion - Frameshift 4:105695633-105695634 - TCGA-D1-A160-01 COSM1049790 c.272A>G p.K91R Substitution - Missense 4:105695553-105695553 - HCC40T COSM1618229 c.667A>G p.T223A Substitution - Missense 4:105686829-105686829 - T3724 COSM2952950 c.41delT p.L14fs*1 Deletion - Frameshift 4:105699965-105699965 - 2492729 COSM5727426 c.273G>T p.K91N Substitution - Missense 4:105695552-105695552 - cSCCP7 COSM139533 c.1244G>A p.S415N Substitution - Missense 4:105682878-105682878 - PM-3 COSM5619989 c.572A>C p.H191P Substitution - Missense 4:105692061-105692061 - PD4120a COSM161747 c.80C>G p.S27C Substitution - Missense 4:105699926-105699926 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.480419;Hs.480435;Hs.480452;Hs.480454 4q24 611355

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.F262S c.785T>C 4 106607868 PRAD A G Missense p.M1T c.2T>C 4 106621161 LUAD A T Missense p.S284T c.850T>A 4 106604429 UCEC A T Synonymous p.G304G c.912T>A 4 106604367 BRCA C A Missense p.L7F c.21G>T 4 106621142 HNSC C G Missense p.D113H c.337G>C 4 106614616 BLCA C G Missense p.D53H c.157G>C 4 106616825 LUAD C T Missense p.E110K c.328G>A 4 106614625 BLCA C T Missense p.E110K c.328G>A 4 106614625 BRCA C T Missense p.E8K c.22G>A 4 106621141 HNSC C T Missense p.M169I c.507G>A 4 106613283 BRCA C T Missense p.S399N c.1196G>A 4 106604083 MM C T Missense p.V331M c.991G>A 4 106604288 GBM C T Missense p.V358I c.1072G>A 4 106604207 HNSC C T Synonymous p.Q449Q c.1347G>A 4 106603932 BLCA G A IntronicSNV . c.1-8609C>T 4 106629771 DLBCL G A Missense p.P129S c.385C>T 4 106614568 CM G A Missense p.P428S c.1282C>T 4 106603997 LUAD G C Missense p.S27C c.80C>G 4 106621083 BRCA G - Frameshift p.S284Cfs*3 c.851delC 4 106604428 HNSC G T Missense p.Q457K c.1369C>A 4 106603910 CM T A Synonymous p.G275G c.825A>T 4 106604454 BRCA T C Missense p.K91R c.272A>G 4 106616710 UCEC T - Frameshift p.N64Tfs*29 c.191delA 4 106616791 SCLC T G Missense p.K361N c.1083A>C 4 106604196 COREAD T G Missense p.S413R c.1237A>C 4 106604042 HNSC T G Missense p.T307P c.919A>C 4 106604360 BRCA