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 ACC 18 44013156 44013156 + Missense_Mutation SNP C C T TCGA-OR-A5LD-01A-11D-A29I-10 TCGA-OR-A5LD-10A-01D-A29L-10 g.chr18:44013156C>T c.65C>T c.(64-66)gCc>gTc p.A22V BLCA 18 44030341 44030341 + Missense_Mutation SNP C C T TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr18:44030341C>T c.698C>T c.(697-699)tCc>tTc p.S233F BLCA 18 44035973 44035973 + Missense_Mutation SNP G G A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr18:44035973G>A c.853G>A c.(853-855)Ggg>Agg p.G285R CESC 18 43914264 43914264 + Silent SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 g.chr18:43914264C>T c.27C>T c.(25-27)ctC>ctT p.L9L CHOL 18 44015312 44015312 + Silent SNP C C T TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr18:44015312C>T c.438C>T c.(436-438)ggC>ggT p.G146G COAD 18 44013334 44013334 + Silent SNP G G A TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr18:44013334G>A c.243G>A c.(241-243)tcG>tcA p.S81S COAD 18 44015304 44015304 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr18:44015304G>A c.430G>A c.(430-432)Gac>Aac p.D144N COAD 18 44035972 44035972 + Frame_Shift_Del DEL G G - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr18:44035972delG c.852delG c.(850-852)gagfs p.E284fs COAD 18 44036035 44036035 + Missense_Mutation SNP A A C TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr18:44036035A>C c.915A>C c.(913-915)gaA>gaC p.E305D COAD 18 44036534 44036534 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:44036534G>A c.976G>A c.(976-978)Gcc>Acc p.A326T COAD 18 44036553 44036553 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr18:44036553C>T c.995C>T c.(994-996)cCc>cTc p.P332L COAD 18 44036579 44036579 + Missense_Mutation SNP C C A TCGA-AA-3975-01A-01W-0995-10 TCGA-AA-3975-10A-01W-0999-10 g.chr18:44036579C>A c.1021C>A c.(1021-1023)Caa>Aaa p.Q341K COADREAD 18 44013334 44013334 + Silent SNP G G A TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr18:44013334G>A c.243G>A c.(241-243)tcG>tcA p.S81S COADREAD 18 44015304 44015304 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr18:44015304G>A c.430G>A c.(430-432)Gac>Aac p.D144N COADREAD 18 44027527 44027527 + Splice_Site SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:44027527G>A c.487G>A c.(487-489)Gat>Aat p.D163N COADREAD 18 44035972 44035972 + Frame_Shift_Del DEL G G - TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr18:44035972delG c.852delG c.(850-852)gagfs p.E284fs COADREAD 18 44036015 44036015 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:44036015T>C c.895T>C c.(895-897)Tct>Cct p.S299P COADREAD 18 44036035 44036035 + Missense_Mutation SNP A A C TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr18:44036035A>C c.915A>C c.(913-915)gaA>gaC p.E305D COADREAD 18 44036534 44036534 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:44036534G>A c.976G>A c.(976-978)Gcc>Acc p.A326T COADREAD 18 44036553 44036553 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr18:44036553C>T c.995C>T c.(994-996)cCc>cTc p.P332L COADREAD 18 44036579 44036579 + Missense_Mutation SNP C C A TCGA-AA-3975-01A-01W-0995-10 TCGA-AA-3975-10A-01W-0999-10 g.chr18:44036579C>A c.1021C>A c.(1021-1023)Caa>Aaa p.Q341K DLBC 18 44015315 44015315 + Silent SNP A A G TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr18:44015315A>G c.441A>G c.(439-441)caA>caG p.Q147Q ESCA 18 44036483 44036483 + Splice_Site SNP C C T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 g.chr18:44036483C>T c.925C>T c.(925-927)Cgc>Tgc p.R309C GBM 18 44036518 44036518 + Silent SNP C C T TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr18:44036518C>T c.960C>T c.(958-960)tgC>tgT p.C320C GBMLGG 18 44027530 44027530 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:44027530C>A c.490C>A c.(490-492)Ctc>Atc p.L164I GBMLGG 18 44027652 44027652 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:44027652G>T c.612G>T c.(610-612)caG>caT p.Q204H GBMLGG 18 44036518 44036518 + Silent SNP C C T TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr18:44036518C>T c.960C>T c.(958-960)tgC>tgT p.C320C HNSC 18 44015328 44015328 + Missense_Mutation SNP C C G TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr18:44015328C>G c.454C>G c.(454-456)Cag>Gag p.Q152E KIPAN 18 44013351 44013353 + In_Frame_Del DEL CCC CCC - TCGA-A4-7583-01A-11D-2136-08 TCGA-A4-7583-10A-01D-2136-08 g.chr18:44013351_44013353delCCC c.260_262delCCC c.(259-264)accctg>atg p.87_88TL>M KIPAN 18 44013357 44013357 + Missense_Mutation SNP A A G TCGA-A4-7583-01A-11D-2136-08 TCGA-A4-7583-10A-01D-2136-08 g.chr18:44013357A>G c.266A>G c.(265-267)cAg>cGg p.Q89R KIRP 18 44013351 44013353 + In_Frame_Del DEL CCC CCC - TCGA-A4-7583-01A-11D-2136-08 TCGA-A4-7583-10A-01D-2136-08 g.chr18:44013351_44013353delCCC c.260_262delCCC c.(259-264)accctg>atg p.87_88TL>M KIRP 18 44013357 44013357 + Missense_Mutation SNP A A G TCGA-A4-7583-01A-11D-2136-08 TCGA-A4-7583-10A-01D-2136-08 g.chr18:44013357A>G c.266A>G c.(265-267)cAg>cGg p.Q89R LGG 18 44027530 44027530 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:44027530C>A c.490C>A c.(490-492)Ctc>Atc p.L164I LGG 18 44027652 44027652 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:44027652G>T c.612G>T c.(610-612)caG>caT p.Q204H LUAD 18 44013218 44013218 + Missense_Mutation SNP C C A TCGA-86-8056-01A-11D-2238-08 TCGA-86-8056-10A-01D-2238-08 g.chr18:44013218C>A c.127C>A c.(127-129)Ccg>Acg p.P43T LUAD 18 44013278 44013278 + Missense_Mutation SNP G G T TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr18:44013278G>T c.187G>T c.(187-189)Ggc>Tgc p.G63C LUAD 18 44013280 44013280 + Silent SNP C C A TCGA-44-A479-01A-31D-A24D-08 TCGA-44-A479-10A-01D-A24F-08 g.chr18:44013280C>A c.189C>A c.(187-189)ggC>ggA p.G63G LUAD 18 44013365 44013365 + Missense_Mutation SNP G G T TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr18:44013365G>T c.274G>T c.(274-276)Gac>Tac p.D92Y LUAD 18 44027602 44027602 + Missense_Mutation SNP C C A TCGA-49-4494-01A-01D-1265-08 TCGA-49-4494-11A-01D-1265-08 g.chr18:44027602C>A c.562C>A c.(562-564)Cta>Ata p.L188I LUAD 18 44030290 44030290 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr18:44030290C>G c.647C>G c.(646-648)cCt>cGt p.P216R LUAD 18 44030317 44030317 + Missense_Mutation SNP G G A TCGA-J2-A4AE-01A-21D-A24D-08 TCGA-J2-A4AE-10A-01D-A24F-08 g.chr18:44030317G>A c.674G>A c.(673-675)gGa>gAa p.G225E LUAD 18 44030343 44030343 + Missense_Mutation SNP G G C TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr18:44030343G>C c.700G>C c.(700-702)Gcc>Ccc p.A234P LUAD 18 44030685 44030685 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr18:44030685G>T c.739G>T c.(739-741)Gac>Tac p.D247Y LUAD 18 44030744 44030744 + Frame_Shift_Del DEL C C - TCGA-55-8615-01A-11D-2393-08 TCGA-55-8615-10A-01D-2393-08 g.chr18:44030744delC c.798delC c.(796-798)ttcfs p.F266fs LUAD 18 44036010 44036010 + Missense_Mutation SNP G G T TCGA-05-4250-01A-01D-1105-08 TCGA-05-4250-10A-01D-1105-08 g.chr18:44036010G>T c.890G>T c.(889-891)tGt>tTt p.C297F LUSC 18 44027630 44027630 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr18:44027630C>T c.590C>T c.(589-591)cCc>cTc p.P197L OV 18 44030700 44030700 + Missense_Mutation SNP G G A TCGA-61-1733-01A-01W-0639-09 TCGA-61-1733-11A-01W-0639-09 g.chr18:44030700G>A c.754G>A c.(754-756)Gtg>Atg p.V252M PAAD 18 44030346 44030346 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 g.chr18:44030346G>A c.703G>A c.(703-705)Gta>Ata p.V235I PAAD 18 44035936 44035936 + Splice_Site SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:44035936G>T c.e7-1 PRAD 18 44013447 44013447 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr18:44013447G>A c.356G>A c.(355-357)cGc>cAc p.R119H READ 18 44027527 44027527 + Splice_Site SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:44027527G>A c.487G>A c.(487-489)Gat>Aat p.D163N READ 18 44036015 44036015 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:44036015T>C c.895T>C c.(895-897)Tct>Cct p.S299P SARC 18 44030349 44030349 + Missense_Mutation SNP C C T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 g.chr18:44030349C>T c.706C>T c.(706-708)Cgg>Tgg p.R236W SKCM 18 44013158 44013158 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:44013158C>T c.67C>T c.(67-69)Ccc>Tcc p.P23S SKCM 18 44013175 44013175 + Silent SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 g.chr18:44013175G>A c.84G>A c.(82-84)caG>caA p.Q28Q SKCM 18 44013247 44013247 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr18:44013247C>T c.156C>T c.(154-156)ttC>ttT p.F52F SKCM 18 44013377 44013377 + Missense_Mutation SNP C C T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr18:44013377C>T c.286C>T c.(286-288)Ccc>Tcc p.P96S SKCM 18 44013385 44013385 + Silent SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr18:44013385C>T c.294C>T c.(292-294)ttC>ttT p.F98F SKCM 18 44013470 44013470 + Splice_Site SNP T T G TCGA-FS-A1ZF-06A-12D-A197-08 TCGA-FS-A1ZF-10A-01D-A199-08 g.chr18:44013470T>G c.e2+2 SKCM 18 44015303 44015303 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr18:44015303C>T c.429C>T c.(427-429)ttC>ttT p.F143F SKCM 18 44015303 44015303 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:44015303C>T c.429C>T c.(427-429)ttC>ttT p.F143F SKCM 18 44027629 44027629 + Missense_Mutation SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr18:44027629C>T c.589C>T c.(589-591)Ccc>Tcc p.P197S SKCM 18 44030268 44030268 + Missense_Mutation SNP G G A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 g.chr18:44030268G>A c.625G>A c.(625-627)Gaa>Aaa p.E209K SKCM 18 44030274 44030274 + Nonsense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr18:44030274C>T c.631C>T c.(631-633)Cga>Tga p.R211* SKCM 18 44030298 44030298 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr18:44030298C>T c.655C>T c.(655-657)Cac>Tac p.H219Y SKCM 18 44030303 44030303 + Silent SNP C C T TCGA-EE-A3AH-06A-11D-A196-08 TCGA-EE-A3AH-10A-01D-A198-08 g.chr18:44030303C>T c.660C>T c.(658-660)ttC>ttT p.F220F SKCM 18 44030306 44030306 + Silent SNP T T C TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr18:44030306T>C c.663T>C c.(661-663)ctT>ctC p.L221L SKCM 18 44030681 44030681 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr18:44030681C>T c.735C>T c.(733-735)ctC>ctT p.L245L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 18 44030341 44030341 single base substitution C T 3_prime_UTR_variant BLCA-US 18 44030341 44030341 single base substitution C T downstream_gene_variant BLCA-US 18 44030341 44030341 single base substitution C T exon_variant BLCA-US 18 44030341 44030341 single base substitution C T missense_variant S233F 698C>T BLCA-US 18 44030341 44030341 single base substitution C T missense_variant S41F 122C>T BLCA-US 18 44035973 44035973 single base substitution G A 3_prime_UTR_variant BLCA-US 18 44035973 44035973 single base substitution G A exon_variant BLCA-US 18 44035973 44035973 single base substitution G A missense_variant G285R 853G>A BLCA-US 18 44035973 44035973 single base substitution G A missense_variant G93R 277G>A BOCA-FR 18 43936693 43936693 single base substitution C T intron_variant BOCA-FR 18 44045686 44045686 single base substitution G A downstream_gene_variant BRCA-EU 18 43902625 43902625 single base substitution C A upstream_gene_variant BRCA-EU 18 43902862 43902862 single base substitution G C upstream_gene_variant BRCA-EU 18 43902982 43902982 single base substitution C T upstream_gene_variant BRCA-EU 18 43905622 43905622 single base substitution C A upstream_gene_variant BRCA-EU 18 43907780 43907780 insertion of <=200bp - T intron_variant BRCA-EU 18 43907991 43907991 single base substitution G T intron_variant BRCA-EU 18 43908006 43908006 single base substitution C T intron_variant BRCA-EU 18 43908524 43908524 single base substitution C T intron_variant BRCA-EU 18 43909214 43909214 single base substitution T C intron_variant BRCA-EU 18 43909214 43909214 single base substitution T C upstream_gene_variant BRCA-EU 18 43909398 43909398 single base substitution C A intron_variant BRCA-EU 18 43909398 43909398 single base substitution C A upstream_gene_variant BRCA-EU 18 43909897 43909897 single base substitution G A intron_variant BRCA-EU 18 43909897 43909897 single base substitution G A upstream_gene_variant BRCA-EU 18 43910110 43910110 single base substitution T A intron_variant BRCA-EU 18 43910110 43910110 single base substitution T A upstream_gene_variant BRCA-EU 18 43912108 43912108 single base substitution A G intron_variant BRCA-EU 18 43912108 43912108 single base substitution A G upstream_gene_variant BRCA-EU 18 43912182 43912182 single base substitution A T intron_variant BRCA-EU 18 43912182 43912182 single base substitution A T upstream_gene_variant BRCA-EU 18 43912546 43912546 single base substitution T A intron_variant BRCA-EU 18 43912546 43912546 single base substitution T A upstream_gene_variant BRCA-EU 18 43913780 43913780 single base substitution C G intron_variant BRCA-EU 18 43913780 43913780 single base substitution C G upstream_gene_variant BRCA-EU 18 43914089 43914089 single base substitution C T 5_prime_UTR_variant BRCA-EU 18 43914089 43914089 single base substitution C T intron_variant BRCA-EU 18 43914089 43914089 single base substitution C T upstream_gene_variant BRCA-EU 18 43914690 43914690 single base substitution A C 3_prime_UTR_variant BRCA-EU 18 43914690 43914690 single base substitution A C intron_variant BRCA-EU 18 43914976 43914976 single base substitution A G 3_prime_UTR_variant BRCA-EU 18 43914976 43914976 single base substitution A G intron_variant BRCA-EU 18 43918069 43918069 single base substitution G A downstream_gene_variant BRCA-EU 18 43918069 43918069 single base substitution G A intron_variant BRCA-EU 18 43918623 43918623 deletion of <=200bp T - downstream_gene_variant BRCA-EU 18 43918623 43918623 deletion of <=200bp T - intron_variant BRCA-EU 18 43920108 43920108 single base substitution T C downstream_gene_variant BRCA-EU 18 43920108 43920108 single base substitution T C intron_variant BRCA-EU 18 43922968 43922968 single base substitution C T intron_variant BRCA-EU 18 43923365 43923365 single base substitution C A intron_variant BRCA-EU 18 43925686 43925686 single base substitution C G intron_variant BRCA-EU 18 43926788 43926788 single base substitution G C intron_variant BRCA-EU 18 43929623 43929623 single base substitution T G intron_variant BRCA-EU 18 43929739 43929739 single base substitution C A intron_variant BRCA-EU 18 43931279 43931279 single base substitution G C intron_variant BRCA-EU 18 43931927 43931927 single base substitution G A intron_variant BRCA-EU 18 43932941 43932941 single base substitution G A intron_variant BRCA-EU 18 43933610 43933610 single base substitution C T intron_variant BRCA-EU 18 43935367 43935367 single base substitution G T intron_variant BRCA-EU 18 43936456 43936456 single base substitution G A intron_variant BRCA-EU 18 43936840 43936840 single base substitution C T intron_variant BRCA-EU 18 43936847 43936847 single base substitution T G intron_variant BRCA-EU 18 43937854 43937854 single base substitution A T intron_variant BRCA-EU 18 43941345 43941345 single base substitution A G intron_variant BRCA-EU 18 43941886 43941892 deletion of <=200bp TGCCCCG - intron_variant BRCA-EU 18 43943746 43943746 single base substitution C G intron_variant BRCA-EU 18 43944561 43944561 single base substitution A G intron_variant BRCA-EU 18 43944762 43944762 single base substitution A G intron_variant BRCA-EU 18 43945516 43945516 single base substitution G T intron_variant BRCA-EU 18 43948781 43948781 single base substitution C T intron_variant BRCA-EU 18 43948895 43948895 single base substitution T A intron_variant BRCA-EU 18 43950889 43950889 single base substitution G T intron_variant BRCA-EU 18 43951175 43951175 single base substitution C G intron_variant BRCA-EU 18 43951605 43951605 single base substitution T A intron_variant BRCA-EU 18 43952630 43952630 single base substitution C T intron_variant BRCA-EU 18 43955145 43955145 single base substitution C G intron_variant BRCA-EU 18 43956183 43956183 single base substitution C G intron_variant BRCA-EU 18 43956990 43956990 single base substitution C G intron_variant BRCA-EU 18 43957235 43957235 single base substitution G C intron_variant BRCA-EU 18 43958194 43958194 single base substitution A G intron_variant BRCA-EU 18 43958524 43958524 single base substitution G C intron_variant BRCA-EU 18 43959512 43959512 single base substitution C G intron_variant BRCA-EU 18 43960170 43960170 single base substitution G A intron_variant BRCA-EU 18 43962388 43962388 single base substitution T C intron_variant BRCA-EU 18 43962638 43962638 single base substitution C T intron_variant BRCA-EU 18 43962718 43962718 single base substitution G T intron_variant BRCA-EU 18 43966774 43966774 single base substitution C T intron_variant BRCA-EU 18 43966834 43966834 single base substitution C A intron_variant BRCA-EU 18 43968958 43968958 single base substitution G A intron_variant BRCA-EU 18 43969519 43969519 single base substitution C T intron_variant BRCA-EU 18 43969980 43969980 single base substitution C G intron_variant BRCA-EU 18 43970320 43970320 single base substitution G A intron_variant BRCA-EU 18 43970748 43970748 single base substitution C T intron_variant BRCA-EU 18 43970861 43970861 single base substitution C G intron_variant BRCA-EU 18 43971059 43971059 single base substitution C A intron_variant BRCA-EU 18 43971805 43971818 deletion of <=200bp ACCCTGCACAATAC - intron_variant BRCA-EU 18 43974225 43974225 single base substitution C T intron_variant BRCA-EU 18 43978986 43978986 single base substitution C T intron_variant BRCA-EU 18 43979388 43979388 single base substitution G A intron_variant BRCA-EU 18 43979536 43979536 single base substitution C T intron_variant BRCA-EU 18 43980313 43980313 single base substitution G A intron_variant BRCA-EU 18 43985056 43985056 single base substitution G A intron_variant BRCA-EU 18 43985977 43985977 single base substitution A G intron_variant BRCA-EU 18 43987739 43987739 single base substitution G A intron_variant BRCA-EU 18 43989158 43989158 single base substitution G C intron_variant BRCA-EU 18 43990787 43990787 single base substitution G C intron_variant BRCA-EU 18 43992844 43992844 single base substitution T A intron_variant BRCA-EU 18 43993161 43993161 single base substitution G C intron_variant BRCA-EU 18 43993162 43993162 single base substitution A T intron_variant BRCA-EU 18 43995333 43995333 single base substitution A T intron_variant BRCA-EU 18 43996441 43996441 single base substitution T A intron_variant BRCA-EU 18 43996589 43996589 single base substitution C G intron_variant BRCA-EU 18 43996652 43996652 single base substitution T G intron_variant BRCA-EU 18 43997469 43997469 single base substitution G C intron_variant BRCA-EU 18 43999156 43999156 single base substitution C A intron_variant BRCA-EU 18 44000182 44000182 single base substitution T C intron_variant BRCA-EU 18 44000888 44000888 single base substitution T A intron_variant BRCA-EU 18 44001919 44001919 single base substitution T G intron_variant BRCA-EU 18 44002157 44002157 single base substitution C T intron_variant BRCA-EU 18 44002586 44002586 single base substitution C G intron_variant BRCA-EU 18 44004842 44004844 deletion of <=200bp TCT - intron_variant BRCA-EU 18 44005510 44005510 single base substitution G C intron_variant BRCA-EU 18 44006507 44006507 single base substitution C A intron_variant BRCA-EU 18 44006582 44006582 single base substitution T C intron_variant BRCA-EU 18 44007032 44007032 single base substitution G A intron_variant BRCA-EU 18 44008662 44008662 single base substitution G C intron_variant BRCA-EU 18 44012085 44012085 single base substitution T A intron_variant BRCA-EU 18 44013182 44013182 single base substitution C T 5_prime_UTR_variant BRCA-EU 18 44013182 44013182 single base substitution C T intron_variant BRCA-EU 18 44013182 44013182 single base substitution C T missense_variant H31Y 91C>T BRCA-EU 18 44014511 44014511 single base substitution C G intron_variant BRCA-EU 18 44014659 44014659 single base substitution C G intron_variant BRCA-EU 18 44015662 44015662 single base substitution G T intron_variant BRCA-EU 18 44015691 44015691 single base substitution G A intron_variant BRCA-EU 18 44019829 44019829 single base substitution C G intron_variant BRCA-EU 18 44020562 44020562 single base substitution T C intron_variant BRCA-EU 18 44020685 44020685 single base substitution T G intron_variant BRCA-EU 18 44022776 44022776 single base substitution A C intron_variant BRCA-EU 18 44022776 44022776 single base substitution A C upstream_gene_variant BRCA-EU 18 44022792 44022792 single base substitution A C intron_variant BRCA-EU 18 44022792 44022792 single base substitution A C upstream_gene_variant BRCA-EU 18 44023890 44023890 single base substitution G T intron_variant BRCA-EU 18 44023890 44023890 single base substitution G T upstream_gene_variant BRCA-EU 18 44024005 44024005 deletion of <=200bp T - intron_variant BRCA-EU 18 44024005 44024005 deletion of <=200bp T - upstream_gene_variant BRCA-EU 18 44027979 44027979 single base substitution C T intron_variant BRCA-EU 18 44028270 44028310 deletion of <=200bp CCTGGCAGATCAACAGCTCCCCTCTCTTCGCAGCTCCTATT - intron_variant BRCA-EU 18 44029202 44029202 single base substitution C T intron_variant BRCA-EU 18 44029304 44029304 deletion of <=200bp T - intron_variant BRCA-EU 18 44029376 44029376 single base substitution G C intron_variant BRCA-EU 18 44032562 44032562 single base substitution G C downstream_gene_variant BRCA-EU 18 44032562 44032562 single base substitution G C intron_variant BRCA-EU 18 44032979 44032979 single base substitution C G downstream_gene_variant BRCA-EU 18 44032979 44032979 single base substitution C G intron_variant BRCA-EU 18 44033518 44033518 single base substitution G T downstream_gene_variant BRCA-EU 18 44033518 44033518 single base substitution G T intron_variant BRCA-EU 18 44033531 44033531 single base substitution G T downstream_gene_variant BRCA-EU 18 44033531 44033531 single base substitution G T intron_variant BRCA-EU 18 44033637 44033637 single base substitution G C downstream_gene_variant BRCA-EU 18 44033637 44033637 single base substitution G C intron_variant BRCA-EU 18 44037177 44037177 single base substitution G A 3_prime_UTR_variant BRCA-EU 18 44037177 44037177 single base substitution G A downstream_gene_variant BRCA-EU 18 44037576 44037576 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU 18 44037576 44037576 deletion of <=200bp G - downstream_gene_variant BRCA-EU 18 44041293 44041293 single base substitution C G 3_prime_UTR_variant BRCA-EU 18 44041293 44041293 single base substitution C G downstream_gene_variant BRCA-EU 18 44042040 44042040 single base substitution G A 3_prime_UTR_variant BRCA-EU 18 44042040 44042040 single base substitution G A downstream_gene_variant BRCA-EU 18 44042423 44042423 single base substitution T A 3_prime_UTR_variant BRCA-EU 18 44042423 44042423 single base substitution T A downstream_gene_variant BRCA-EU 18 44042551 44042551 single base substitution C G 3_prime_UTR_variant BRCA-EU 18 44042551 44042551 single base substitution C G downstream_gene_variant BRCA-EU 18 44043469 44043469 single base substitution C G downstream_gene_variant BRCA-EU 18 44043875 44043875 single base substitution G A downstream_gene_variant BRCA-EU 18 44044161 44044161 single base substitution C T downstream_gene_variant BRCA-EU 18 44045043 44045043 single base substitution C T downstream_gene_variant BRCA-EU 18 44047374 44047374 single base substitution C T downstream_gene_variant BRCA-FR 18 43931279 43931279 single base substitution G C intron_variant BRCA-FR 18 43941345 43941345 single base substitution A G intron_variant BRCA-FR 18 43957235 43957235 single base substitution G C intron_variant BRCA-FR 18 43959512 43959512 single base substitution C G intron_variant BRCA-FR 18 43974225 43974225 single base substitution C T intron_variant BRCA-FR 18 43987739 43987739 single base substitution G A intron_variant BRCA-FR 18 44000888 44000888 single base substitution T A intron_variant BRCA-FR 18 44006582 44006582 single base substitution T C intron_variant BRCA-FR 18 44014659 44014659 single base substitution C G intron_variant BRCA-FR 18 44032979 44032979 single base substitution C G downstream_gene_variant BRCA-FR 18 44032979 44032979 single base substitution C G intron_variant BRCA-FR 18 44033518 44033518 single base substitution G T downstream_gene_variant BRCA-FR 18 44033518 44033518 single base substitution G T intron_variant BRCA-FR 18 44033531 44033531 single base substitution G T downstream_gene_variant BRCA-FR 18 44033531 44033531 single base substitution G T intron_variant BRCA-FR 18 44033637 44033637 single base substitution G C downstream_gene_variant BRCA-FR 18 44033637 44033637 single base substitution G C intron_variant BRCA-FR 18 44037177 44037177 single base substitution G A 3_prime_UTR_variant BRCA-FR 18 44037177 44037177 single base substitution G A downstream_gene_variant BRCA-FR 18 44047374 44047374 single base substitution C T downstream_gene_variant BRCA-UK 18 43925003 43925003 single base substitution C G intron_variant BRCA-UK 18 43948895 43948895 single base substitution T A intron_variant BRCA-UK 18 43957462 43957462 single base substitution A G intron_variant BRCA-UK 18 43962388 43962388 single base substitution T C intron_variant BRCA-UK 18 43996652 43996652 single base substitution T G intron_variant BRCA-UK 18 44001182 44001182 single base substitution C T intron_variant BRCA-UK 18 44003928 44003928 single base substitution C T intron_variant BRCA-UK 18 44030753 44030753 single base substitution G T 3_prime_UTR_variant BRCA-UK 18 44030753 44030753 single base substitution G T downstream_gene_variant BRCA-UK 18 44030753 44030753 single base substitution G T exon_variant BRCA-UK 18 44030753 44030753 single base substitution G T missense_variant K269N 807G>T BRCA-UK 18 44030753 44030753 single base substitution G T missense_variant K77N 231G>T BRCA-UK 18 44046890 44046890 single base substitution C G downstream_gene_variant BTCA-JP 18 43914407 43914407 single base substitution C T intron_variant BTCA-JP 18 43914407 43914407 single base substitution C T missense_variant T57M 170C>T BTCA-JP 18 44013368 44013368 single base substitution G A intron_variant BTCA-JP 18 44013368 44013368 single base substitution G A missense_variant V26I 76G>A BTCA-JP 18 44013368 44013368 single base substitution G A missense_variant V93I 277G>A CESC-US 18 43914264 43914264 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant CESC-US 18 43914264 43914264 single base substitution C T exon_variant CESC-US 18 43914264 43914264 single base substitution C T intron_variant CESC-US 18 43914264 43914264 single base substitution C T synonymous_variant L9L 27C>T CLLE-ES 18 43908552 43908552 single base substitution C G intron_variant CLLE-ES 18 43942934 43942934 single base substitution A T intron_variant CLLE-ES 18 43964391 43964391 single base substitution G A intron_variant CLLE-ES 18 43967111 43967111 single base substitution A T intron_variant CLLE-ES 18 43973901 43973901 single base substitution G C intron_variant CLLE-ES 18 43976707 43976707 single base substitution C T intron_variant CLLE-ES 18 43977538 43977538 single base substitution T G intron_variant CLLE-ES 18 43983230 43983230 single base substitution C A intron_variant CLLE-ES 18 43996313 43996313 single base substitution G A intron_variant CLLE-ES 18 44024766 44024766 single base substitution A T intron_variant CLLE-ES 18 44024766 44024766 single base substitution A T upstream_gene_variant CLLE-ES 18 44025913 44025913 single base substitution T C intron_variant CLLE-ES 18 44025913 44025913 single base substitution T C upstream_gene_variant CLLE-ES 18 44034869 44034869 single base substitution T C downstream_gene_variant CLLE-ES 18 44034869 44034869 single base substitution T C intron_variant CLLE-ES 18 44038299 44038299 single base substitution G A 3_prime_UTR_variant CLLE-ES 18 44038299 44038299 single base substitution G A downstream_gene_variant CLLE-ES 18 44043234 44043234 single base substitution G T downstream_gene_variant CLLE-ES 18 44043639 44043639 single base substitution T C downstream_gene_variant COAD-US 18 44013334 44013334 single base substitution G A intron_variant COAD-US 18 44013334 44013334 single base substitution G A synonymous_variant S14S 42G>A COAD-US 18 44013334 44013334 single base substitution G A synonymous_variant S81S 243G>A COAD-US 18 44013368 44013368 single base substitution G A intron_variant COAD-US 18 44013368 44013368 single base substitution G A missense_variant V26I 76G>A COAD-US 18 44013368 44013368 single base substitution G A missense_variant V93I 277G>A COAD-US 18 44015304 44015304 single base substitution G A intron_variant COAD-US 18 44015304 44015304 single base substitution G A missense_variant D144N 430G>A COAD-US 18 44015304 44015304 single base substitution G A missense_variant D77N 229G>A COAD-US 18 44035972 44035972 deletion of <=200bp G - 3_prime_UTR_variant COAD-US 18 44035972 44035972 deletion of <=200bp G - exon_variant COAD-US 18 44035972 44035972 deletion of <=200bp G - frameshift_variant E284 COAD-US 18 44035972 44035972 deletion of <=200bp G - frameshift_variant E92 COAD-US 18 44036035 44036035 single base substitution A C 3_prime_UTR_variant COAD-US 18 44036035 44036035 single base substitution A C downstream_gene_variant COAD-US 18 44036035 44036035 single base substitution A C missense_variant E113D 339A>C COAD-US 18 44036035 44036035 single base substitution A C missense_variant E305D 915A>C COAD-US 18 44036553 44036553 single base substitution C T 3_prime_UTR_variant COAD-US 18 44036553 44036553 single base substitution C T downstream_gene_variant COAD-US 18 44036553 44036553 single base substitution C T missense_variant P140L 419C>T COAD-US 18 44036553 44036553 single base substitution C T missense_variant P332L 995C>T COCA-CN 18 44013188 44013188 single base substitution A C 5_prime_UTR_variant COCA-CN 18 44013188 44013188 single base substitution A C intron_variant COCA-CN 18 44013188 44013188 single base substitution A C missense_variant T33P 97A>C COCA-CN 18 44013362 44013362 single base substitution C T intron_variant COCA-CN 18 44013362 44013362 single base substitution C T stop_gained Q24* 70C>T COCA-CN 18 44013362 44013362 single base substitution C T stop_gained Q91* 271C>T COCA-CN 18 44015304 44015304 single base substitution G A intron_variant COCA-CN 18 44015304 44015304 single base substitution G A missense_variant D144N 430G>A COCA-CN 18 44015304 44015304 single base substitution G A missense_variant D77N 229G>A COCA-CN 18 44027717 44027717 single base substitution C T intron_variant COCA-CN 18 44030304 44030304 single base substitution C T 3_prime_UTR_variant COCA-CN 18 44030304 44030304 single base substitution C T exon_variant COCA-CN 18 44030304 44030304 single base substitution C T missense_variant L154F 460C>T COCA-CN 18 44030304 44030304 single base substitution C T missense_variant L221F 661C>T COCA-CN 18 44030304 44030304 single base substitution C T missense_variant L29F 85C>T COCA-CN 18 44030617 44030617 single base substitution T C downstream_gene_variant COCA-CN 18 44030617 44030617 single base substitution T C intron_variant COCA-CN 18 44035911 44035911 single base substitution A G intron_variant COCA-CN 18 44036068 44036068 single base substitution C A downstream_gene_variant COCA-CN 18 44036068 44036068 single base substitution C A intron_variant COCA-CN 18 44036485 44036485 single base substitution C T 3_prime_UTR_variant COCA-CN 18 44036485 44036485 single base substitution C T downstream_gene_variant COCA-CN 18 44036485 44036485 single base substitution C T synonymous_variant R117R 351C>T COCA-CN 18 44036485 44036485 single base substitution C T synonymous_variant R309R 927C>T EOPC-DE 18 43917722 43917722 single base substitution A C downstream_gene_variant EOPC-DE 18 43917722 43917722 single base substitution A C intron_variant EOPC-DE 18 43989405 43989405 single base substitution G C intron_variant EOPC-DE 18 44024518 44024518 single base substitution C A intron_variant EOPC-DE 18 44024518 44024518 single base substitution C A upstream_gene_variant EOPC-DE 18 44027790 44027790 single base substitution C T intron_variant EOPC-DE 18 44035417 44035417 single base substitution G A intron_variant ESAD-UK 18 43902532 43902532 single base substitution T C upstream_gene_variant ESAD-UK 18 43905536 43905536 single base substitution A C upstream_gene_variant ESAD-UK 18 43907481 43907481 single base substitution A G intron_variant ESAD-UK 18 43908087 43908087 single base substitution C T intron_variant ESAD-UK 18 43908755 43908755 single base substitution C T intron_variant ESAD-UK 18 43909246 43909246 single base substitution C G intron_variant ESAD-UK 18 43909246 43909246 single base substitution C G upstream_gene_variant ESAD-UK 18 43909539 43909539 single base substitution C T intron_variant ESAD-UK 18 43909539 43909539 single base substitution C T upstream_gene_variant ESAD-UK 18 43913456 43913456 single base substitution C G intron_variant ESAD-UK 18 43913456 43913456 single base substitution C G upstream_gene_variant ESAD-UK 18 43914190 43914190 single base substitution A G 5_prime_UTR_variant ESAD-UK 18 43914190 43914190 single base substitution A G intron_variant ESAD-UK 18 43914190 43914190 single base substitution A G splice_region_variant ESAD-UK 18 43914203 43914203 single base substitution C G 5_prime_UTR_variant ESAD-UK 18 43914203 43914203 single base substitution C G intron_variant ESAD-UK 18 43916337 43916337 deletion of <=200bp C - 3_prime_UTR_variant ESAD-UK 18 43916337 43916337 deletion of <=200bp C - intron_variant ESAD-UK 18 43916418 43916418 single base substitution G A 3_prime_UTR_variant ESAD-UK 18 43916418 43916418 single base substitution G A intron_variant ESAD-UK 18 43917287 43917287 single base substitution G T 3_prime_UTR_variant ESAD-UK 18 43917287 43917287 single base substitution G T downstream_gene_variant ESAD-UK 18 43917287 43917287 single base substitution G T intron_variant ESAD-UK 18 43919130 43919130 single base substitution T G downstream_gene_variant ESAD-UK 18 43919130 43919130 single base substitution T G intron_variant ESAD-UK 18 43920581 43920581 single base substitution C A downstream_gene_variant ESAD-UK 18 43920581 43920581 single base substitution C A intron_variant ESAD-UK 18 43921373 43921373 single base substitution T C downstream_gene_variant ESAD-UK 18 43921373 43921373 single base substitution T C intron_variant ESAD-UK 18 43921610 43921610 single base substitution A C downstream_gene_variant ESAD-UK 18 43921610 43921610 single base substitution A C intron_variant ESAD-UK 18 43922034 43922034 single base substitution C T downstream_gene_variant ESAD-UK 18 43922034 43922034 single base substitution C T intron_variant ESAD-UK 18 43923570 43923570 single base substitution C T intron_variant ESAD-UK 18 43925703 43925703 single base substitution A G intron_variant ESAD-UK 18 43926579 43926579 insertion of <=200bp - A intron_variant ESAD-UK 18 43928014 43928014 single base substitution C T intron_variant ESAD-UK 18 43928082 43928082 single base substitution G A intron_variant ESAD-UK 18 43929232 43929232 single base substitution A C intron_variant ESAD-UK 18 43931790 43931790 single base substitution G A intron_variant ESAD-UK 18 43932440 43932440 single base substitution A C intron_variant ESAD-UK 18 43935231 43935231 single base substitution T A intron_variant ESAD-UK 18 43936529 43936529 single base substitution C T intron_variant ESAD-UK 18 43936692 43936692 single base substitution C T intron_variant ESAD-UK 18 43937081 43937081 single base substitution G A intron_variant ESAD-UK 18 43937916 43937916 single base substitution C T intron_variant ESAD-UK 18 43943473 43943473 single base substitution A C intron_variant ESAD-UK 18 43944315 43944315 single base substitution C A intron_variant ESAD-UK 18 43944321 43944321 single base substitution A C intron_variant ESAD-UK 18 43948159 43948159 single base substitution A C intron_variant ESAD-UK 18 43948162 43948162 single base substitution T G intron_variant ESAD-UK 18 43948170 43948170 single base substitution A C intron_variant ESAD-UK 18 43948672 43948672 single base substitution A C intron_variant ESAD-UK 18 43951298 43951298 single base substitution C T intron_variant ESAD-UK 18 43952004 43952004 single base substitution A C intron_variant ESAD-UK 18 43953187 43953187 single base substitution T G intron_variant ESAD-UK 18 43955693 43955693 single base substitution C A intron_variant ESAD-UK 18 43956896 43956896 single base substitution G T intron_variant ESAD-UK 18 43957356 43957356 single base substitution A C intron_variant ESAD-UK 18 43958242 43958242 single base substitution C T intron_variant ESAD-UK 18 43958290 43958290 single base substitution G C intron_variant ESAD-UK 18 43958321 43958321 single base substitution T G intron_variant ESAD-UK 18 43959688 43959688 single base substitution T G intron_variant ESAD-UK 18 43960042 43960042 single base substitution T G intron_variant ESAD-UK 18 43960766 43960766 single base substitution C T intron_variant ESAD-UK 18 43962115 43962115 single base substitution T G intron_variant ESAD-UK 18 43962905 43962905 single base substitution A G intron_variant ESAD-UK 18 43963069 43963069 single base substitution G A intron_variant ESAD-UK 18 43965897 43965897 single base substitution G T intron_variant ESAD-UK 18 43967412 43967412 single base substitution A T intron_variant ESAD-UK 18 43967466 43967466 single base substitution A C intron_variant ESAD-UK 18 43968281 43968281 single base substitution G A intron_variant ESAD-UK 18 43969041 43969041 single base substitution A C intron_variant ESAD-UK 18 43969425 43969425 single base substitution A C intron_variant ESAD-UK 18 43970537 43970537 deletion of <=200bp A - intron_variant ESAD-UK 18 43971594 43971594 single base substitution T A intron_variant ESAD-UK 18 43972811 43972811 single base substitution T G intron_variant ESAD-UK 18 43973741 43973741 single base substitution C G intron_variant ESAD-UK 18 43974152 43974152 single base substitution A C intron_variant ESAD-UK 18 43974968 43974968 single base substitution T G intron_variant ESAD-UK 18 43975415 43975415 single base substitution G A intron_variant ESAD-UK 18 43976430 43976430 single base substitution T G intron_variant ESAD-UK 18 43976827 43976827 single base substitution G A intron_variant ESAD-UK 18 43980136 43980136 single base substitution G T intron_variant ESAD-UK 18 43981404 43981404 single base substitution A G intron_variant ESAD-UK 18 43981752 43981752 single base substitution C A intron_variant ESAD-UK 18 43983183 43983183 single base substitution C A intron_variant ESAD-UK 18 43983483 43983483 single base substitution G T intron_variant ESAD-UK 18 43983611 43983611 single base substitution C T intron_variant ESAD-UK 18 43984672 43984672 single base substitution C T intron_variant ESAD-UK 18 43984760 43984760 single base substitution C A intron_variant ESAD-UK 18 43985631 43985631 single base substitution G T intron_variant ESAD-UK 18 43987340 43987340 single base substitution T A intron_variant ESAD-UK 18 43987785 43987785 single base substitution A C intron_variant ESAD-UK 18 43987824 43987824 single base substitution C T intron_variant ESAD-UK 18 43989303 43989303 single base substitution T G intron_variant ESAD-UK 18 43991703 43991703 single base substitution T C intron_variant ESAD-UK 18 43992246 43992246 single base substitution G C intron_variant ESAD-UK 18 43993226 43993226 single base substitution G A intron_variant ESAD-UK 18 43994310 43994310 single base substitution C A intron_variant ESAD-UK 18 43994311 43994311 single base substitution T A intron_variant ESAD-UK 18 43995651 43995651 single base substitution A C intron_variant ESAD-UK 18 43996000 43996000 single base substitution G A intron_variant ESAD-UK 18 43996125 43996125 single base substitution A C intron_variant ESAD-UK 18 43997693 43997693 single base substitution C T intron_variant ESAD-UK 18 43997694 43997694 single base substitution G A intron_variant ESAD-UK 18 43998482 43998482 single base substitution A T intron_variant ESAD-UK 18 43999185 43999185 single base substitution G T intron_variant ESAD-UK 18 44000477 44000477 single base substitution C T intron_variant ESAD-UK 18 44001419 44001419 single base substitution C A intron_variant ESAD-UK 18 44001515 44001515 single base substitution A T intron_variant ESAD-UK 18 44001519 44001519 single base substitution T A intron_variant ESAD-UK 18 44001572 44001572 single base substitution T A intron_variant ESAD-UK 18 44005429 44005429 single base substitution T C intron_variant ESAD-UK 18 44006257 44006257 single base substitution A T intron_variant ESAD-UK 18 44007098 44007098 single base substitution A G intron_variant ESAD-UK 18 44007536 44007536 single base substitution T C intron_variant ESAD-UK 18 44008027 44008027 single base substitution G A intron_variant ESAD-UK 18 44008095 44008095 single base substitution C T intron_variant ESAD-UK 18 44008442 44008442 single base substitution A G intron_variant ESAD-UK 18 44008635 44008635 single base substitution T G intron_variant ESAD-UK 18 44012576 44012576 single base substitution T G intron_variant ESAD-UK 18 44012944 44012944 single base substitution A G intron_variant ESAD-UK 18 44013027 44013027 single base substitution C T intron_variant ESAD-UK 18 44013078 44013078 single base substitution C T intron_variant ESAD-UK 18 44013286 44013286 single base substitution C T 5_prime_UTR_variant ESAD-UK 18 44013286 44013286 single base substitution C T intron_variant ESAD-UK 18 44013286 44013286 single base substitution C T synonymous_variant S65S 195C>T ESAD-UK 18 44013488 44013488 single base substitution G T intron_variant ESAD-UK 18 44014056 44014056 single base substitution T G intron_variant ESAD-UK 18 44015267 44015267 single base substitution T G intron_variant ESAD-UK 18 44015267 44015267 single base substitution T G synonymous_variant R131R 393T>G ESAD-UK 18 44015267 44015267 single base substitution T G synonymous_variant R64R 192T>G ESAD-UK 18 44016617 44016617 single base substitution G A intron_variant ESAD-UK 18 44017108 44017108 single base substitution C G intron_variant ESAD-UK 18 44017195 44017195 single base substitution A G intron_variant ESAD-UK 18 44017573 44017573 single base substitution A C intron_variant ESAD-UK 18 44017630 44017630 single base substitution C T intron_variant ESAD-UK 18 44019474 44019474 single base substitution G A intron_variant ESAD-UK 18 44019706 44019706 deletion of <=200bp A - intron_variant ESAD-UK 18 44022150 44022150 single base substitution A T intron_variant ESAD-UK 18 44023519 44023519 single base substitution C T intron_variant ESAD-UK 18 44023519 44023519 single base substitution C T upstream_gene_variant ESAD-UK 18 44023923 44023923 single base substitution T G intron_variant ESAD-UK 18 44023923 44023923 single base substitution T G upstream_gene_variant ESAD-UK 18 44023934 44023934 single base substitution T G intron_variant ESAD-UK 18 44023934 44023934 single base substitution T G upstream_gene_variant ESAD-UK 18 44024005 44024005 insertion of <=200bp - T intron_variant ESAD-UK 18 44024005 44024005 insertion of <=200bp - T upstream_gene_variant ESAD-UK 18 44026459 44026459 single base substitution C A intron_variant ESAD-UK 18 44026459 44026459 single base substitution C A upstream_gene_variant ESAD-UK 18 44027200 44027200 single base substitution C T intron_variant ESAD-UK 18 44027200 44027200 single base substitution C T upstream_gene_variant ESAD-UK 18 44028334 44028334 single base substitution G T intron_variant ESAD-UK 18 44028568 44028568 single base substitution G A intron_variant ESAD-UK 18 44028612 44028612 single base substitution G T intron_variant ESAD-UK 18 44028613 44028613 single base substitution G T intron_variant ESAD-UK 18 44029765 44029765 deletion of <=200bp T - intron_variant ESAD-UK 18 44029987 44029987 single base substitution G A intron_variant ESAD-UK 18 44030438 44030438 single base substitution C A downstream_gene_variant ESAD-UK 18 44030438 44030438 single base substitution C A intron_variant ESAD-UK 18 44032369 44032369 single base substitution A T downstream_gene_variant ESAD-UK 18 44032369 44032369 single base substitution A T intron_variant ESAD-UK 18 44032505 44032505 single base substitution A C downstream_gene_variant ESAD-UK 18 44032505 44032505 single base substitution A C intron_variant ESAD-UK 18 44033542 44033542 single base substitution A C downstream_gene_variant ESAD-UK 18 44033542 44033542 single base substitution A C intron_variant ESAD-UK 18 44033732 44033732 single base substitution G A downstream_gene_variant ESAD-UK 18 44033732 44033732 single base substitution G A intron_variant ESAD-UK 18 44034901 44034901 single base substitution A C downstream_gene_variant ESAD-UK 18 44034901 44034901 single base substitution A C intron_variant ESAD-UK 18 44036109 44036109 single base substitution C T downstream_gene_variant ESAD-UK 18 44036109 44036109 single base substitution C T intron_variant ESAD-UK 18 44036281 44036281 single base substitution G A downstream_gene_variant ESAD-UK 18 44036281 44036281 single base substitution G A intron_variant ESAD-UK 18 44040699 44040699 single base substitution G A 3_prime_UTR_variant ESAD-UK 18 44040699 44040699 single base substitution G A downstream_gene_variant ESAD-UK 18 44042040 44042040 single base substitution G A 3_prime_UTR_variant ESAD-UK 18 44042040 44042040 single base substitution G A downstream_gene_variant ESAD-UK 18 44042046 44042046 single base substitution C T 3_prime_UTR_variant ESAD-UK 18 44042046 44042046 single base substitution C T downstream_gene_variant ESAD-UK 18 44043296 44043296 insertion of <=200bp - C downstream_gene_variant ESAD-UK 18 44043575 44043575 insertion of <=200bp - T downstream_gene_variant ESAD-UK 18 44044916 44044916 single base substitution T C downstream_gene_variant ESAD-UK 18 44045918 44045918 single base substitution C T downstream_gene_variant ESAD-UK 18 44046153 44046153 single base substitution G A downstream_gene_variant ESAD-UK 18 44047769 44047769 single base substitution C A downstream_gene_variant ESAD-UK 18 44047912 44047912 single base substitution T G downstream_gene_variant ESAD-UK 18 44048031 44048031 single base substitution C T downstream_gene_variant ESCA-CN 18 44013446 44013446 single base substitution C T intron_variant ESCA-CN 18 44013446 44013446 single base substitution C T missense_variant R119C 355C>T ESCA-CN 18 44013446 44013446 single base substitution C T missense_variant R52C 154C>T GBM-US 18 44036518 44036518 single base substitution C T 3_prime_UTR_variant GBM-US 18 44036518 44036518 single base substitution C T downstream_gene_variant GBM-US 18 44036518 44036518 single base substitution C T synonymous_variant C128C 384C>T GBM-US 18 44036518 44036518 single base substitution C T synonymous_variant C320C 960C>T KIRP-US 18 44013351 44013353 deletion of <=200bp CCC - disruptive_inframe_deletion TL20M KIRP-US 18 44013351 44013353 deletion of <=200bp CCC - disruptive_inframe_deletion TL87M KIRP-US 18 44013351 44013353 deletion of <=200bp CCC - intron_variant LAML-KR 18 44011979 44011979 single base substitution T C intron_variant LAML-KR 18 44021865 44021865 single base substitution C T intron_variant LAML-KR 18 44027790 44027790 single base substitution C T intron_variant LICA-FR 18 43909050 43909050 single base substitution G T intron_variant LICA-FR 18 43909050 43909050 single base substitution G T upstream_gene_variant LICA-FR 18 43909298 43909298 single base substitution A C intron_variant LICA-FR 18 43909298 43909298 single base substitution A C upstream_gene_variant LICA-FR 18 43910525 43910525 single base substitution A G intron_variant LICA-FR 18 43910525 43910525 single base substitution A G upstream_gene_variant LICA-FR 18 43921875 43921875 single base substitution A G downstream_gene_variant LICA-FR 18 43921875 43921875 single base substitution A G intron_variant LICA-FR 18 43966538 43966538 insertion of <=200bp - CCACCCAT intron_variant LICA-FR 18 43999036 43999036 single base substitution T C intron_variant LICA-FR 18 43999041 43999041 single base substitution T C intron_variant LICA-FR 18 44001066 44001066 single base substitution A G intron_variant LICA-FR 18 44018651 44018651 single base substitution A T intron_variant LICA-FR 18 44030312 44030312 single base substitution C G 3_prime_UTR_variant LICA-FR 18 44030312 44030312 single base substitution C G exon_variant LICA-FR 18 44030312 44030312 single base substitution C G synonymous_variant L156L 468C>G LICA-FR 18 44030312 44030312 single base substitution C G synonymous_variant L223L 669C>G LICA-FR 18 44030312 44030312 single base substitution C G synonymous_variant L31L 93C>G LICA-FR 18 44032778 44032778 single base substitution T C downstream_gene_variant LICA-FR 18 44032778 44032778 single base substitution T C intron_variant LICA-FR 18 44041941 44041941 single base substitution A T 3_prime_UTR_variant LICA-FR 18 44041941 44041941 single base substitution A T downstream_gene_variant LINC-JP 18 43939742 43939742 single base substitution A G intron_variant LINC-JP 18 43941986 43941986 single base substitution A G intron_variant LINC-JP 18 43963513 43963513 single base substitution G T intron_variant LINC-JP 18 43964746 43964746 single base substitution G A intron_variant LINC-JP 18 43965647 43965647 single base substitution C G intron_variant LINC-JP 18 44021020 44021020 single base substitution C T intron_variant LINC-JP 18 44030626 44030626 single base substitution A G downstream_gene_variant LINC-JP 18 44030626 44030626 single base substitution A G intron_variant LIRI-JP 18 43904092 43904092 single base substitution G A upstream_gene_variant LIRI-JP 18 43906280 43906280 single base substitution C T upstream_gene_variant LIRI-JP 18 43916416 43916416 single base substitution A G 3_prime_UTR_variant LIRI-JP 18 43916416 43916416 single base substitution A G intron_variant LIRI-JP 18 43917935 43917935 deletion of <=200bp T - downstream_gene_variant LIRI-JP 18 43917935 43917935 deletion of <=200bp T - intron_variant LIRI-JP 18 43918848 43918848 single base substitution C A downstream_gene_variant LIRI-JP 18 43918848 43918848 single base substitution C A intron_variant LIRI-JP 18 43918987 43918987 single base substitution G T downstream_gene_variant LIRI-JP 18 43918987 43918987 single base substitution G T intron_variant LIRI-JP 18 43920773 43920773 single base substitution A G downstream_gene_variant LIRI-JP 18 43920773 43920773 single base substitution A G intron_variant LIRI-JP 18 43921530 43921530 single base substitution T C downstream_gene_variant LIRI-JP 18 43921530 43921530 single base substitution T C intron_variant LIRI-JP 18 43921925 43921925 single base substitution G A downstream_gene_variant LIRI-JP 18 43921925 43921925 single base substitution G A intron_variant LIRI-JP 18 43922482 43922482 single base substitution C A downstream_gene_variant LIRI-JP 18 43922482 43922482 single base substitution C A intron_variant LIRI-JP 18 43924397 43924397 single base substitution C T intron_variant LIRI-JP 18 43924414 43924414 deletion of <=200bp G - intron_variant LIRI-JP 18 43927479 43927479 single base substitution A T intron_variant LIRI-JP 18 43927520 43927520 single base substitution A C intron_variant LIRI-JP 18 43930959 43930959 single base substitution C T intron_variant LIRI-JP 18 43932102 43932102 single base substitution C A intron_variant LIRI-JP 18 43933335 43933335 single base substitution A C intron_variant LIRI-JP 18 43934369 43934369 single base substitution G T intron_variant LIRI-JP 18 43936404 43936404 single base substitution C T intron_variant LIRI-JP 18 43937955 43937955 single base substitution C T intron_variant LIRI-JP 18 43938444 43938444 single base substitution G A intron_variant LIRI-JP 18 43938450 43938450 single base substitution G A intron_variant LIRI-JP 18 43941129 43941129 single base substitution A C intron_variant LIRI-JP 18 43941669 43941669 single base substitution G A intron_variant LIRI-JP 18 43942265 43942271 deletion of <=200bp CTCTTAG - intron_variant LIRI-JP 18 43943930 43943930 single base substitution A G intron_variant LIRI-JP 18 43945631 43945631 single base substitution T A intron_variant LIRI-JP 18 43946293 43946293 single base substitution G T intron_variant LIRI-JP 18 43946314 43946314 single base substitution C T intron_variant LIRI-JP 18 43950206 43950206 single base substitution A G intron_variant LIRI-JP 18 43953108 43953108 single base substitution T A intron_variant LIRI-JP 18 43954391 43954391 single base substitution C T intron_variant LIRI-JP 18 43957913 43957913 single base substitution A T intron_variant LIRI-JP 18 43960032 43960032 single base substitution C T intron_variant LIRI-JP 18 43960303 43960303 single base substitution G T intron_variant LIRI-JP 18 43963037 43963037 single base substitution C T intron_variant LIRI-JP 18 43965230 43965230 single base substitution A G intron_variant LIRI-JP 18 43965841 43965841 deletion of <=200bp T - intron_variant LIRI-JP 18 43967536 43967536 single base substitution G T intron_variant LIRI-JP 18 43974320 43974320 single base substitution T G intron_variant LIRI-JP 18 43975370 43975370 single base substitution G T intron_variant LIRI-JP 18 43978272 43978272 single base substitution G A intron_variant LIRI-JP 18 43980170 43980170 single base substitution A C intron_variant LIRI-JP 18 43982840 43982840 single base substitution C G intron_variant LIRI-JP 18 43983511 43983511 single base substitution G A intron_variant LIRI-JP 18 43983877 43983877 single base substitution G T intron_variant LIRI-JP 18 43987373 43987373 single base substitution C T intron_variant LIRI-JP 18 43988733 43988733 single base substitution C G intron_variant LIRI-JP 18 43989866 43989866 single base substitution A G intron_variant LIRI-JP 18 43994574 43994574 single base substitution A G intron_variant LIRI-JP 18 43994852 43994852 single base substitution T C intron_variant LIRI-JP 18 43994887 43994900 deletion of <=200bp GGAGGATGTGTGAG - intron_variant LIRI-JP 18 43995425 43995425 single base substitution C T intron_variant LIRI-JP 18 43995978 43995978 single base substitution C G intron_variant LIRI-JP 18 43997613 43997613 single base substitution A G intron_variant LIRI-JP 18 43998191 43998191 single base substitution A T intron_variant LIRI-JP 18 43998601 43998601 single base substitution C T intron_variant LIRI-JP 18 43999168 43999168 single base substitution C A intron_variant LIRI-JP 18 44001785 44001785 single base substitution A T intron_variant LIRI-JP 18 44003009 44003009 single base substitution A G intron_variant LIRI-JP 18 44003363 44003363 single base substitution T C intron_variant LIRI-JP 18 44004120 44004120 single base substitution G T intron_variant LIRI-JP 18 44005631 44005631 single base substitution C G intron_variant LIRI-JP 18 44006171 44006171 single base substitution T G intron_variant LIRI-JP 18 44006182 44006182 single base substitution A G intron_variant LIRI-JP 18 44008824 44008824 single base substitution A C intron_variant LIRI-JP 18 44009046 44009046 single base substitution G A intron_variant LIRI-JP 18 44011523 44011523 single base substitution G T intron_variant LIRI-JP 18 44012241 44012241 single base substitution G A intron_variant LIRI-JP 18 44015040 44015040 single base substitution G T intron_variant LIRI-JP 18 44019560 44019560 single base substitution G A intron_variant LIRI-JP 18 44020216 44020216 single base substitution A G intron_variant LIRI-JP 18 44023694 44023694 single base substitution T A intron_variant LIRI-JP 18 44023694 44023694 single base substitution T A upstream_gene_variant LIRI-JP 18 44025260 44025260 single base substitution G T intron_variant LIRI-JP 18 44025260 44025260 single base substitution G T upstream_gene_variant LIRI-JP 18 44025341 44025341 single base substitution T C intron_variant LIRI-JP 18 44025341 44025341 single base substitution T C upstream_gene_variant LIRI-JP 18 44029269 44029269 single base substitution T C intron_variant LIRI-JP 18 44032755 44032755 single base substitution A T downstream_gene_variant LIRI-JP 18 44032755 44032755 single base substitution A T intron_variant LIRI-JP 18 44034338 44034338 single base substitution C A downstream_gene_variant LIRI-JP 18 44034338 44034338 single base substitution C A intron_variant LIRI-JP 18 44035693 44035693 single base substitution G A intron_variant LIRI-JP 18 44037834 44037834 single base substitution C T 3_prime_UTR_variant LIRI-JP 18 44037834 44037834 single base substitution C T downstream_gene_variant LIRI-JP 18 44042295 44042295 single base substitution C G 3_prime_UTR_variant LIRI-JP 18 44042295 44042295 single base substitution C G downstream_gene_variant LUSC-KR 18 43905318 43905318 single base substitution C A upstream_gene_variant LUSC-KR 18 43905361 43905361 single base substitution G A upstream_gene_variant LUSC-KR 18 43911325 43911325 single base substitution C G intron_variant LUSC-KR 18 43911325 43911325 single base substitution C G upstream_gene_variant LUSC-KR 18 43914453 43914453 single base substitution C T 3_prime_UTR_variant LUSC-KR 18 43914453 43914453 single base substitution C T intron_variant LUSC-KR 18 43918838 43918838 single base substitution C A downstream_gene_variant LUSC-KR 18 43918838 43918838 single base substitution C A intron_variant LUSC-KR 18 43926334 43926334 single base substitution C T intron_variant LUSC-KR 18 43927125 43927125 single base substitution T C intron_variant LUSC-KR 18 43939426 43939426 single base substitution T G intron_variant LUSC-KR 18 43941955 43941955 single base substitution C A intron_variant LUSC-KR 18 43943192 43943192 single base substitution C T intron_variant LUSC-KR 18 43943925 43943925 single base substitution G T intron_variant LUSC-KR 18 43948932 43948932 single base substitution C T intron_variant LUSC-KR 18 43949801 43949801 single base substitution C A intron_variant LUSC-KR 18 43952061 43952061 single base substitution T G intron_variant LUSC-KR 18 43953285 43953285 single base substitution G T intron_variant LUSC-KR 18 43959879 43959879 single base substitution G A intron_variant LUSC-KR 18 43962073 43962073 single base substitution G C intron_variant LUSC-KR 18 43971041 43971041 single base substitution G T intron_variant LUSC-KR 18 43972519 43972519 single base substitution C A intron_variant LUSC-KR 18 43972520 43972520 single base substitution A T intron_variant LUSC-KR 18 43973333 43973333 single base substitution G C intron_variant LUSC-KR 18 43974761 43974761 single base substitution G A intron_variant LUSC-KR 18 43977513 43977513 single base substitution G A intron_variant LUSC-KR 18 43978012 43978012 single base substitution A G intron_variant LUSC-KR 18 43978042 43978042 single base substitution C G intron_variant LUSC-KR 18 43989506 43989506 single base substitution G A intron_variant LUSC-KR 18 43990288 43990288 single base substitution G C intron_variant LUSC-KR 18 43990639 43990639 single base substitution G C intron_variant LUSC-KR 18 43996325 43996325 single base substitution C G intron_variant LUSC-KR 18 43999101 43999101 single base substitution C G intron_variant LUSC-KR 18 44006009 44006009 single base substitution A T intron_variant LUSC-KR 18 44012010 44012010 single base substitution T C intron_variant LUSC-KR 18 44017816 44017816 single base substitution C A intron_variant LUSC-KR 18 44021524 44021524 single base substitution G C intron_variant LUSC-KR 18 44027632 44027632 single base substitution A T 3_prime_UTR_variant LUSC-KR 18 44027632 44027632 single base substitution A T exon_variant LUSC-KR 18 44027632 44027632 single base substitution A T stop_gained R131* 391A>T LUSC-KR 18 44027632 44027632 single base substitution A T stop_gained R198* 592A>T LUSC-KR 18 44027632 44027632 single base substitution A T stop_gained R6* 16A>T LUSC-KR 18 44033479 44033479 single base substitution G A downstream_gene_variant LUSC-KR 18 44033479 44033479 single base substitution G A intron_variant LUSC-KR 18 44035349 44035349 single base substitution C T intron_variant LUSC-KR 18 44036654 44036654 single base substitution A T 3_prime_UTR_variant LUSC-KR 18 44036654 44036654 single base substitution A T downstream_gene_variant LUSC-KR 18 44037098 44037098 single base substitution C T 3_prime_UTR_variant LUSC-KR 18 44037098 44037098 single base substitution C T downstream_gene_variant LUSC-KR 18 44042857 44042857 single base substitution C A 3_prime_UTR_variant LUSC-KR 18 44042857 44042857 single base substitution C A downstream_gene_variant LUSC-KR 18 44044192 44044192 single base substitution C G downstream_gene_variant LUSC-US 18 44027630 44027630 single base substitution C T 3_prime_UTR_variant LUSC-US 18 44027630 44027630 single base substitution C T exon_variant LUSC-US 18 44027630 44027630 single base substitution C T missense_variant P130L 389C>T LUSC-US 18 44027630 44027630 single base substitution C T missense_variant P197L 590C>T LUSC-US 18 44027630 44027630 single base substitution C T missense_variant P5L 14C>T MALY-DE 18 43903325 43903328 deletion of <=200bp ATTT - upstream_gene_variant MALY-DE 18 43907482 43907482 single base substitution G A intron_variant MALY-DE 18 43910182 43910182 single base substitution A C intron_variant MALY-DE 18 43910182 43910182 single base substitution A C upstream_gene_variant MALY-DE 18 43913704 43913704 single base substitution C T intron_variant MALY-DE 18 43913704 43913704 single base substitution C T upstream_gene_variant MALY-DE 18 43915808 43915808 single base substitution A C 3_prime_UTR_variant MALY-DE 18 43915808 43915808 single base substitution A C intron_variant MALY-DE 18 43916610 43916610 single base substitution G T 3_prime_UTR_variant MALY-DE 18 43916610 43916610 single base substitution G T downstream_gene_variant MALY-DE 18 43916610 43916610 single base substitution G T intron_variant MALY-DE 18 43917565 43917565 single base substitution C T 3_prime_UTR_variant MALY-DE 18 43917565 43917565 single base substitution C T downstream_gene_variant MALY-DE 18 43917565 43917565 single base substitution C T intron_variant MALY-DE 18 43918588 43918588 single base substitution T C downstream_gene_variant MALY-DE 18 43918588 43918588 single base substitution T C intron_variant MALY-DE 18 43920497 43920497 single base substitution C A downstream_gene_variant MALY-DE 18 43920497 43920497 single base substitution C A intron_variant MALY-DE 18 43921306 43921306 single base substitution G T downstream_gene_variant MALY-DE 18 43921306 43921306 single base substitution G T intron_variant MALY-DE 18 43926600 43926600 single base substitution G C intron_variant MALY-DE 18 43929576 43929576 single base substitution G T intron_variant MALY-DE 18 43930638 43930638 single base substitution T A intron_variant MALY-DE 18 43934279 43934279 single base substitution T C intron_variant MALY-DE 18 43935871 43935873 deletion of <=200bp TGA - intron_variant MALY-DE 18 43942526 43942526 single base substitution C T intron_variant MALY-DE 18 43948586 43948586 single base substitution T C intron_variant MALY-DE 18 43950483 43950483 single base substitution C T intron_variant MALY-DE 18 43959603 43959603 single base substitution C T intron_variant MALY-DE 18 43964101 43964101 single base substitution G A intron_variant MALY-DE 18 43965545 43965548 deletion of <=200bp ACTT - intron_variant MALY-DE 18 43973571 43973571 single base substitution C T intron_variant MALY-DE 18 43976775 43976775 single base substitution G A intron_variant MALY-DE 18 43977453 43977454 deletion of <=200bp GT - intron_variant MALY-DE 18 43980604 43980604 single base substitution T G intron_variant MALY-DE 18 43982661 43982661 single base substitution G A intron_variant MALY-DE 18 43984894 43984894 single base substitution C T intron_variant MALY-DE 18 43990846 43990846 single base substitution C T intron_variant MALY-DE 18 44000092 44000092 single base substitution T C intron_variant MALY-DE 18 44001385 44001385 single base substitution C A intron_variant MALY-DE 18 44004022 44004022 single base substitution C T intron_variant MALY-DE 18 44004606 44004606 single base substitution G T intron_variant MALY-DE 18 44012277 44012277 single base substitution T C intron_variant MALY-DE 18 44016175 44016175 single base substitution A G intron_variant MALY-DE 18 44020237 44020238 deletion of <=200bp GA - intron_variant MALY-DE 18 44022424 44022424 single base substitution G T intron_variant MALY-DE 18 44022424 44022424 single base substitution G T upstream_gene_variant MALY-DE 18 44025519 44025519 single base substitution C T intron_variant MALY-DE 18 44025519 44025519 single base substitution C T upstream_gene_variant MALY-DE 18 44031626 44031626 single base substitution T G downstream_gene_variant MALY-DE 18 44031626 44031626 single base substitution T G intron_variant MALY-DE 18 44033108 44033108 single base substitution G A downstream_gene_variant MALY-DE 18 44033108 44033108 single base substitution G A intron_variant MALY-DE 18 44036459 44036459 single base substitution T G downstream_gene_variant MALY-DE 18 44036459 44036459 single base substitution T G intron_variant MALY-DE 18 44037278 44037278 deletion of <=200bp G - 3_prime_UTR_variant MALY-DE 18 44037278 44037278 deletion of <=200bp G - downstream_gene_variant MALY-DE 18 44040337 44040337 deletion of <=200bp G - 3_prime_UTR_variant MALY-DE 18 44040337 44040337 deletion of <=200bp G - downstream_gene_variant MALY-DE 18 44040620 44040620 insertion of <=200bp - A 3_prime_UTR_variant MALY-DE 18 44040620 44040620 insertion of <=200bp - A downstream_gene_variant MALY-DE 18 44046994 44046994 deletion of <=200bp T - downstream_gene_variant MELA-AU 18 43902264 43902264 single base substitution C T upstream_gene_variant MELA-AU 18 43902637 43902637 single base substitution C T upstream_gene_variant MELA-AU 18 43902752 43902752 single base substitution C T upstream_gene_variant MELA-AU 18 43902781 43902781 single base substitution C T upstream_gene_variant MELA-AU 18 43902828 43902828 single base substitution C T upstream_gene_variant MELA-AU 18 43902970 43902970 single base substitution C T upstream_gene_variant MELA-AU 18 43903188 43903188 single base substitution T A upstream_gene_variant MELA-AU 18 43903708 43903708 single base substitution G A upstream_gene_variant MELA-AU 18 43904139 43904139 single base substitution C T upstream_gene_variant MELA-AU 18 43905361 43905361 single base substitution G A upstream_gene_variant MELA-AU 18 43905715 43905715 single base substitution C T upstream_gene_variant MELA-AU 18 43906156 43906156 single base substitution C T upstream_gene_variant MELA-AU 18 43906719 43906719 single base substitution G A upstream_gene_variant MELA-AU 18 43906813 43906813 single base substitution C A 5_prime_UTR_variant MELA-AU 18 43907253 43907253 single base substitution G A intron_variant MELA-AU 18 43907380 43907380 single base substitution A G intron_variant MELA-AU 18 43907443 43907443 single base substitution C T intron_variant MELA-AU 18 43907486 43907486 single base substitution G A intron_variant MELA-AU 18 43907863 43907863 single base substitution G A intron_variant MELA-AU 18 43907864 43907864 single base substitution G A intron_variant MELA-AU 18 43907923 43907923 single base substitution C T intron_variant MELA-AU 18 43908273 43908273 single base substitution C T intron_variant MELA-AU 18 43908384 43908384 single base substitution G A intron_variant MELA-AU 18 43908856 43908856 single base substitution C T intron_variant MELA-AU 18 43908926 43908926 single base substitution C T intron_variant MELA-AU 18 43909306 43909306 single base substitution C T intron_variant MELA-AU 18 43909306 43909306 single base substitution C T upstream_gene_variant MELA-AU 18 43909422 43909422 single base substitution G T intron_variant MELA-AU 18 43909422 43909422 single base substitution G T upstream_gene_variant MELA-AU 18 43909741 43909741 single base substitution A C intron_variant MELA-AU 18 43909741 43909741 single base substitution A C upstream_gene_variant MELA-AU 18 43909749 43909749 single base substitution T G intron_variant MELA-AU 18 43909749 43909749 single base substitution T G upstream_gene_variant MELA-AU 18 43909934 43909934 single base substitution C T intron_variant MELA-AU 18 43909934 43909934 single base substitution C T upstream_gene_variant MELA-AU 18 43909984 43909984 single base substitution C T intron_variant MELA-AU 18 43909984 43909984 single base substitution C T upstream_gene_variant MELA-AU 18 43910279 43910279 single base substitution G A intron_variant MELA-AU 18 43910279 43910279 single base substitution G A upstream_gene_variant MELA-AU 18 43910323 43910323 single base substitution C T intron_variant MELA-AU 18 43910323 43910323 single base substitution C T upstream_gene_variant MELA-AU 18 43910326 43910326 single base substitution C T intron_variant MELA-AU 18 43910326 43910326 single base substitution C T upstream_gene_variant MELA-AU 18 43910419 43910419 single base substitution C G intron_variant MELA-AU 18 43910419 43910419 single base substitution C G upstream_gene_variant MELA-AU 18 43910643 43910643 single base substitution G A intron_variant MELA-AU 18 43910643 43910643 single base substitution G A upstream_gene_variant MELA-AU 18 43910777 43910777 single base substitution T G intron_variant MELA-AU 18 43910777 43910777 single base substitution T G upstream_gene_variant MELA-AU 18 43910838 43910838 single base substitution C T intron_variant MELA-AU 18 43910838 43910838 single base substitution C T upstream_gene_variant MELA-AU 18 43911001 43911001 single base substitution C T intron_variant MELA-AU 18 43911001 43911001 single base substitution C T upstream_gene_variant MELA-AU 18 43911412 43911412 single base substitution G A intron_variant MELA-AU 18 43911412 43911412 single base substitution G A upstream_gene_variant MELA-AU 18 43911818 43911818 single base substitution A T intron_variant MELA-AU 18 43911818 43911818 single base substitution A T upstream_gene_variant MELA-AU 18 43912559 43912560 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 43912559 43912560 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 18 43913642 43913642 single base substitution G A intron_variant MELA-AU 18 43913642 43913642 single base substitution G A upstream_gene_variant MELA-AU 18 43913867 43913867 single base substitution G A intron_variant MELA-AU 18 43913867 43913867 single base substitution G A upstream_gene_variant MELA-AU 18 43913877 43913877 single base substitution C T intron_variant MELA-AU 18 43913877 43913877 single base substitution C T upstream_gene_variant MELA-AU 18 43914617 43914617 single base substitution G A 3_prime_UTR_variant MELA-AU 18 43914617 43914617 single base substitution G A intron_variant MELA-AU 18 43914683 43914683 single base substitution G A 3_prime_UTR_variant MELA-AU 18 43914683 43914683 single base substitution G A intron_variant MELA-AU 18 43914692 43914692 single base substitution A C 3_prime_UTR_variant MELA-AU 18 43914692 43914692 single base substitution A C intron_variant MELA-AU 18 43915234 43915234 single base substitution C T 3_prime_UTR_variant MELA-AU 18 43915234 43915234 single base substitution C T intron_variant MELA-AU 18 43915534 43915534 single base substitution C T 3_prime_UTR_variant MELA-AU 18 43915534 43915534 single base substitution C T intron_variant MELA-AU 18 43915657 43915657 single base substitution G A 3_prime_UTR_variant MELA-AU 18 43915657 43915657 single base substitution G A intron_variant MELA-AU 18 43915759 43915759 single base substitution C T 3_prime_UTR_variant MELA-AU 18 43915759 43915759 single base substitution C T intron_variant MELA-AU 18 43916046 43916047 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 18 43916046 43916047 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 43917442 43917442 single base substitution C T 3_prime_UTR_variant MELA-AU 18 43917442 43917442 single base substitution C T downstream_gene_variant MELA-AU 18 43917442 43917442 single base substitution C T intron_variant MELA-AU 18 43917569 43917569 single base substitution T A 3_prime_UTR_variant MELA-AU 18 43917569 43917569 single base substitution T A downstream_gene_variant MELA-AU 18 43917569 43917569 single base substitution T A intron_variant MELA-AU 18 43917903 43917903 single base substitution C T downstream_gene_variant MELA-AU 18 43917903 43917903 single base substitution C T intron_variant MELA-AU 18 43918132 43918132 single base substitution C T downstream_gene_variant MELA-AU 18 43918132 43918132 single base substitution C T intron_variant MELA-AU 18 43918750 43918750 single base substitution C T downstream_gene_variant MELA-AU 18 43918750 43918750 single base substitution C T intron_variant MELA-AU 18 43918854 43918854 single base substitution C T downstream_gene_variant MELA-AU 18 43918854 43918854 single base substitution C T intron_variant MELA-AU 18 43918960 43918960 single base substitution C T downstream_gene_variant MELA-AU 18 43918960 43918960 single base substitution C T intron_variant MELA-AU 18 43919432 43919432 single base substitution G A downstream_gene_variant MELA-AU 18 43919432 43919432 single base substitution G A intron_variant MELA-AU 18 43919496 43919496 single base substitution C T downstream_gene_variant MELA-AU 18 43919496 43919496 single base substitution C T intron_variant MELA-AU 18 43919978 43919978 single base substitution G A downstream_gene_variant MELA-AU 18 43919978 43919978 single base substitution G A intron_variant MELA-AU 18 43920440 43920441 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 18 43920440 43920441 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 43920761 43920761 single base substitution C T downstream_gene_variant MELA-AU 18 43920761 43920761 single base substitution C T intron_variant MELA-AU 18 43920765 43920765 single base substitution C T downstream_gene_variant MELA-AU 18 43920765 43920765 single base substitution C T intron_variant MELA-AU 18 43920892 43920892 single base substitution G A downstream_gene_variant MELA-AU 18 43920892 43920892 single base substitution G A intron_variant MELA-AU 18 43920901 43920901 single base substitution C T downstream_gene_variant MELA-AU 18 43920901 43920901 single base substitution C T intron_variant MELA-AU 18 43920907 43920907 single base substitution G A downstream_gene_variant MELA-AU 18 43920907 43920907 single base substitution G A intron_variant MELA-AU 18 43921431 43921431 single base substitution G A downstream_gene_variant MELA-AU 18 43921431 43921431 single base substitution G A intron_variant MELA-AU 18 43921455 43921455 single base substitution G A downstream_gene_variant MELA-AU 18 43921455 43921455 single base substitution G A intron_variant MELA-AU 18 43921649 43921649 single base substitution C T downstream_gene_variant MELA-AU 18 43921649 43921649 single base substitution C T intron_variant MELA-AU 18 43921655 43921655 single base substitution C T downstream_gene_variant MELA-AU 18 43921655 43921655 single base substitution C T intron_variant MELA-AU 18 43921826 43921826 single base substitution G T downstream_gene_variant MELA-AU 18 43921826 43921826 single base substitution G T intron_variant MELA-AU 18 43921861 43921861 single base substitution G A downstream_gene_variant MELA-AU 18 43921861 43921861 single base substitution G A intron_variant MELA-AU 18 43921893 43921893 single base substitution C T downstream_gene_variant MELA-AU 18 43921893 43921893 single base substitution C T intron_variant MELA-AU 18 43921895 43921895 single base substitution T A downstream_gene_variant MELA-AU 18 43921895 43921895 single base substitution T A intron_variant MELA-AU 18 43922288 43922288 single base substitution G A downstream_gene_variant MELA-AU 18 43922288 43922288 single base substitution G A intron_variant MELA-AU 18 43922380 43922380 single base substitution C T downstream_gene_variant MELA-AU 18 43922380 43922380 single base substitution C T intron_variant MELA-AU 18 43922437 43922438 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 18 43922437 43922438 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 43922578 43922578 single base substitution G A downstream_gene_variant MELA-AU 18 43922578 43922578 single base substitution G A intron_variant MELA-AU 18 43922875 43922875 single base substitution G A intron_variant MELA-AU 18 43923113 43923113 single base substitution C T intron_variant MELA-AU 18 43923324 43923324 single base substitution C T intron_variant MELA-AU 18 43923471 43923471 single base substitution C T intron_variant MELA-AU 18 43924027 43924028 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 43924265 43924265 single base substitution C T intron_variant MELA-AU 18 43924290 43924290 single base substitution G A intron_variant MELA-AU 18 43924352 43924353 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 43924365 43924365 single base substitution C T intron_variant MELA-AU 18 43924400 43924400 single base substitution C T intron_variant MELA-AU 18 43924602 43924602 single base substitution C T intron_variant MELA-AU 18 43924913 43924913 single base substitution G A intron_variant MELA-AU 18 43925087 43925087 single base substitution G A intron_variant MELA-AU 18 43925226 43925226 single base substitution G A intron_variant MELA-AU 18 43925473 43925473 single base substitution C T intron_variant MELA-AU 18 43925606 43925606 single base substitution G A intron_variant MELA-AU 18 43925680 43925680 single base substitution C T intron_variant MELA-AU 18 43926099 43926100 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 43926180 43926180 single base substitution G A intron_variant MELA-AU 18 43926209 43926209 single base substitution G A intron_variant MELA-AU 18 43926252 43926252 single base substitution A G intron_variant MELA-AU 18 43926471 43926471 single base substitution G A intron_variant MELA-AU 18 43926660 43926660 single base substitution G A intron_variant MELA-AU 18 43926734 43926735 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 43927104 43927104 single base substitution A T intron_variant MELA-AU 18 43927154 43927154 single base substitution C T intron_variant MELA-AU 18 43927700 43927700 single base substitution G A intron_variant MELA-AU 18 43927795 43927795 single base substitution C T intron_variant MELA-AU 18 43928036 43928036 single base substitution G A intron_variant MELA-AU 18 43928161 43928161 single base substitution G A intron_variant MELA-AU 18 43928287 43928287 single base substitution G A intron_variant MELA-AU 18 43928435 43928435 single base substitution G A intron_variant MELA-AU 18 43928799 43928799 single base substitution C A intron_variant MELA-AU 18 43928874 43928874 single base substitution T C intron_variant MELA-AU 18 43928967 43928967 single base substitution G A intron_variant MELA-AU 18 43929025 43929025 single base substitution G A intron_variant MELA-AU 18 43929109 43929110 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 18 43929230 43929230 single base substitution C T intron_variant MELA-AU 18 43929543 43929543 single base substitution A T intron_variant MELA-AU 18 43929618 43929618 single base substitution G A intron_variant MELA-AU 18 43929624 43929624 single base substitution G A intron_variant MELA-AU 18 43929738 43929738 single base substitution C T intron_variant MELA-AU 18 43930106 43930106 single base substitution C T intron_variant MELA-AU 18 43930363 43930364 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 43930456 43930456 single base substitution G A intron_variant MELA-AU 18 43930634 43930634 single base substitution G A intron_variant MELA-AU 18 43930913 43930913 single base substitution C T intron_variant MELA-AU 18 43930921 43930921 single base substitution C T intron_variant MELA-AU 18 43931343 43931343 single base substitution C T intron_variant MELA-AU 18 43931344 43931344 single base substitution C T intron_variant MELA-AU 18 43931517 43931517 single base substitution C T intron_variant MELA-AU 18 43931891 43931891 single base substitution C T intron_variant MELA-AU 18 43931939 43931939 single base substitution C T intron_variant MELA-AU 18 43931978 43931978 single base substitution G A intron_variant MELA-AU 18 43931989 43931989 single base substitution G T intron_variant MELA-AU 18 43932228 43932229 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 43932608 43932608 single base substitution C T intron_variant MELA-AU 18 43932700 43932700 single base substitution T G intron_variant MELA-AU 18 43933300 43933300 single base substitution G A intron_variant MELA-AU 18 43933300 43933300 single base substitution G T intron_variant MELA-AU 18 43933328 43933328 single base substitution C T intron_variant MELA-AU 18 43933436 43933436 single base substitution C T intron_variant MELA-AU 18 43933546 43933546 single base substitution C T intron_variant MELA-AU 18 43933556 43933556 single base substitution C T intron_variant MELA-AU 18 43933663 43933663 single base substitution C T intron_variant MELA-AU 18 43933997 43933997 single base substitution C T intron_variant MELA-AU 18 43934120 43934120 single base substitution C T intron_variant MELA-AU 18 43934276 43934276 single base substitution G A intron_variant MELA-AU 18 43934319 43934319 single base substitution G A intron_variant MELA-AU 18 43934363 43934363 single base substitution G A intron_variant MELA-AU 18 43934407 43934407 single base substitution G T intron_variant MELA-AU 18 43935374 43935374 single base substitution C T intron_variant MELA-AU 18 43935498 43935498 single base substitution C T intron_variant MELA-AU 18 43935528 43935528 single base substitution C T intron_variant MELA-AU 18 43935769 43935769 single base substitution C T intron_variant MELA-AU 18 43935931 43935931 single base substitution G A intron_variant MELA-AU 18 43935939 43935939 single base substitution C A intron_variant MELA-AU 18 43936006 43936006 single base substitution G A intron_variant MELA-AU 18 43936041 43936041 single base substitution C T intron_variant MELA-AU 18 43936085 43936085 single base substitution T A intron_variant MELA-AU 18 43936194 43936194 single base substitution C T intron_variant MELA-AU 18 43936455 43936455 single base substitution G A intron_variant MELA-AU 18 43936686 43936686 single base substitution C T intron_variant MELA-AU 18 43936813 43936813 single base substitution C T intron_variant MELA-AU 18 43936954 43936954 single base substitution C T intron_variant MELA-AU 18 43936960 43936960 single base substitution C T intron_variant MELA-AU 18 43937526 43937526 single base substitution G A intron_variant MELA-AU 18 43937526 43937526 single base substitution G C intron_variant MELA-AU 18 43937686 43937686 single base substitution G A intron_variant MELA-AU 18 43937761 43937761 single base substitution T C intron_variant MELA-AU 18 43937804 43937804 single base substitution C T intron_variant MELA-AU 18 43937839 43937839 single base substitution G A intron_variant MELA-AU 18 43937846 43937846 single base substitution C T intron_variant MELA-AU 18 43937860 43937860 single base substitution C T intron_variant MELA-AU 18 43938073 43938073 single base substitution G A intron_variant MELA-AU 18 43938196 43938196 single base substitution G A intron_variant MELA-AU 18 43938255 43938255 single base substitution C T intron_variant MELA-AU 18 43938366 43938366 single base substitution G A intron_variant MELA-AU 18 43938369 43938369 single base substitution C T intron_variant MELA-AU 18 43938417 43938417 single base substitution G A intron_variant MELA-AU 18 43938470 43938470 single base substitution C T intron_variant MELA-AU 18 43938472 43938472 single base substitution C T intron_variant MELA-AU 18 43938475 43938475 single base substitution C T intron_variant MELA-AU 18 43938697 43938697 single base substitution C T intron_variant MELA-AU 18 43938900 43938900 single base substitution C T intron_variant MELA-AU 18 43938906 43938906 single base substitution G A intron_variant MELA-AU 18 43938923 43938923 single base substitution C T intron_variant MELA-AU 18 43939011 43939011 single base substitution C T intron_variant MELA-AU 18 43939066 43939066 single base substitution C T intron_variant MELA-AU 18 43939124 43939124 single base substitution C T intron_variant MELA-AU 18 43939217 43939221 deletion of <=200bp GGGTT - intron_variant MELA-AU 18 43939237 43939237 single base substitution G A intron_variant MELA-AU 18 43939323 43939323 single base substitution G A intron_variant MELA-AU 18 43939765 43939765 single base substitution C T intron_variant MELA-AU 18 43939834 43939834 single base substitution C T intron_variant MELA-AU 18 43939943 43939943 single base substitution C T intron_variant MELA-AU 18 43939973 43939973 single base substitution G A intron_variant MELA-AU 18 43940465 43940465 single base substitution G A intron_variant MELA-AU 18 43940473 43940473 single base substitution T C intron_variant MELA-AU 18 43940502 43940502 single base substitution C T intron_variant MELA-AU 18 43940512 43940512 single base substitution C T intron_variant MELA-AU 18 43940577 43940577 single base substitution C T intron_variant MELA-AU 18 43940849 43940849 single base substitution G A intron_variant MELA-AU 18 43941070 43941070 single base substitution C T intron_variant MELA-AU 18 43941197 43941197 single base substitution G A intron_variant MELA-AU 18 43941475 43941475 single base substitution C T intron_variant MELA-AU 18 43941499 43941499 single base substitution C T intron_variant MELA-AU 18 43941748 43941748 single base substitution T G intron_variant MELA-AU 18 43941783 43941783 single base substitution C T intron_variant MELA-AU 18 43941856 43941856 single base substitution C T intron_variant MELA-AU 18 43942225 43942225 single base substitution C T intron_variant MELA-AU 18 43942320 43942321 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 43942481 43942481 single base substitution G A intron_variant MELA-AU 18 43942594 43942594 single base substitution C T intron_variant MELA-AU 18 43942712 43942712 single base substitution A C intron_variant MELA-AU 18 43943152 43943152 single base substitution G A intron_variant MELA-AU 18 43943388 43943388 single base substitution C T intron_variant MELA-AU 18 43943421 43943421 single base substitution C T intron_variant MELA-AU 18 43943452 43943452 single base substitution C T intron_variant MELA-AU 18 43943526 43943526 single base substitution C T intron_variant MELA-AU 18 43943572 43943572 single base substitution G A intron_variant MELA-AU 18 43943597 43943597 single base substitution A C intron_variant MELA-AU 18 43943759 43943759 single base substitution C T intron_variant MELA-AU 18 43944168 43944169 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 43944315 43944315 single base substitution C T intron_variant MELA-AU 18 43944444 43944444 single base substitution C T intron_variant MELA-AU 18 43944454 43944454 single base substitution C T intron_variant MELA-AU 18 43944493 43944493 single base substitution C T intron_variant MELA-AU 18 43944513 43944513 single base substitution C T intron_variant MELA-AU 18 43944764 43944764 single base substitution G A intron_variant MELA-AU 18 43944786 43944786 single base substitution C T intron_variant MELA-AU 18 43944793 43944793 single base substitution C T intron_variant MELA-AU 18 43945132 43945132 single base substitution C G intron_variant MELA-AU 18 43945206 43945206 single base substitution C T intron_variant MELA-AU 18 43945249 43945249 single base substitution C T intron_variant MELA-AU 18 43945883 43945883 single base substitution G A intron_variant MELA-AU 18 43945961 43945961 single base substitution A G intron_variant MELA-AU 18 43946635 43946635 single base substitution G A intron_variant MELA-AU 18 43946707 43946707 single base substitution C T intron_variant MELA-AU 18 43947097 43947097 single base substitution G A intron_variant MELA-AU 18 43947464 43947464 single base substitution C T intron_variant MELA-AU 18 43947822 43947822 single base substitution T A intron_variant MELA-AU 18 43947901 43947901 single base substitution G A intron_variant MELA-AU 18 43948438 43948438 single base substitution C T intron_variant MELA-AU 18 43948702 43948702 single base substitution G A intron_variant MELA-AU 18 43948713 43948713 single base substitution T C intron_variant MELA-AU 18 43949121 43949121 single base substitution C T intron_variant MELA-AU 18 43949430 43949430 single base substitution G A intron_variant MELA-AU 18 43949669 43949669 single base substitution C T intron_variant MELA-AU 18 43949769 43949769 single base substitution A C intron_variant MELA-AU 18 43949798 43949798 single base substitution C T intron_variant MELA-AU 18 43949801 43949801 single base substitution C T intron_variant MELA-AU 18 43949953 43949953 single base substitution G A intron_variant MELA-AU 18 43950234 43950234 single base substitution C T intron_variant MELA-AU 18 43950473 43950473 single base substitution C T intron_variant MELA-AU 18 43950607 43950607 single base substitution C T intron_variant MELA-AU 18 43950644 43950644 single base substitution G A intron_variant MELA-AU 18 43950773 43950773 single base substitution G A intron_variant MELA-AU 18 43950841 43950841 single base substitution G A intron_variant MELA-AU 18 43950978 43950978 single base substitution C T intron_variant MELA-AU 18 43950993 43950993 single base substitution G A intron_variant MELA-AU 18 43951073 43951073 single base substitution G T intron_variant MELA-AU 18 43951157 43951157 single base substitution C T intron_variant MELA-AU 18 43951240 43951240 single base substitution C T intron_variant MELA-AU 18 43951415 43951415 single base substitution C T intron_variant MELA-AU 18 43951552 43951552 single base substitution G A intron_variant MELA-AU 18 43951584 43951584 single base substitution G A intron_variant MELA-AU 18 43951676 43951676 single base substitution C T intron_variant MELA-AU 18 43951734 43951734 single base substitution G A intron_variant MELA-AU 18 43951800 43951800 single base substitution C T intron_variant MELA-AU 18 43951866 43951866 single base substitution G A intron_variant MELA-AU 18 43951977 43951977 single base substitution G A intron_variant MELA-AU 18 43952193 43952193 single base substitution C T intron_variant MELA-AU 18 43952358 43952359 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 43952405 43952405 single base substitution G A intron_variant MELA-AU 18 43952478 43952479 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 43952482 43952482 single base substitution C T intron_variant MELA-AU 18 43952539 43952539 single base substitution G A intron_variant MELA-AU 18 43952770 43952770 single base substitution C T intron_variant MELA-AU 18 43952901 43952901 single base substitution C T intron_variant MELA-AU 18 43952950 43952950 single base substitution G A intron_variant MELA-AU 18 43952959 43952959 single base substitution G A intron_variant MELA-AU 18 43953192 43953192 single base substitution C T intron_variant MELA-AU 18 43953265 43953265 single base substitution G A intron_variant MELA-AU 18 43953821 43953821 single base substitution C T intron_variant MELA-AU 18 43953907 43953907 single base substitution C T intron_variant MELA-AU 18 43953943 43953943 single base substitution C T intron_variant MELA-AU 18 43953944 43953944 single base substitution C T intron_variant MELA-AU 18 43954110 43954110 single base substitution C T intron_variant MELA-AU 18 43954324 43954324 single base substitution C T intron_variant MELA-AU 18 43954455 43954455 single base substitution C T intron_variant MELA-AU 18 43954675 43954675 single base substitution C T intron_variant MELA-AU 18 43954823 43954823 single base substitution G A intron_variant MELA-AU 18 43954857 43954857 single base substitution C T intron_variant MELA-AU 18 43955053 43955053 single base substitution C T intron_variant MELA-AU 18 43955109 43955109 single base substitution C T intron_variant MELA-AU 18 43955282 43955282 single base substitution G A intron_variant MELA-AU 18 43955823 43955823 single base substitution T A intron_variant MELA-AU 18 43955848 43955848 single base substitution G A intron_variant MELA-AU 18 43956528 43956528 single base substitution G A intron_variant MELA-AU 18 43956849 43956849 single base substitution G A intron_variant MELA-AU 18 43957128 43957128 single base substitution C T intron_variant MELA-AU 18 43957293 43957293 single base substitution G A intron_variant MELA-AU 18 43957345 43957345 single base substitution C T intron_variant MELA-AU 18 43957426 43957426 single base substitution G A intron_variant MELA-AU 18 43957472 43957472 deletion of <=200bp C - intron_variant MELA-AU 18 43957505 43957505 single base substitution A G intron_variant MELA-AU 18 43957588 43957588 single base substitution G A intron_variant MELA-AU 18 43957769 43957769 single base substitution G A intron_variant MELA-AU 18 43958105 43958105 single base substitution A T intron_variant MELA-AU 18 43958172 43958172 single base substitution C T intron_variant MELA-AU 18 43958340 43958340 single base substitution C T intron_variant MELA-AU 18 43958515 43958515 single base substitution C T intron_variant MELA-AU 18 43958713 43958713 single base substitution G T intron_variant MELA-AU 18 43959056 43959056 single base substitution G A intron_variant MELA-AU 18 43959084 43959084 single base substitution C T intron_variant MELA-AU 18 43959147 43959147 single base substitution G A intron_variant MELA-AU 18 43959197 43959197 single base substitution C T intron_variant MELA-AU 18 43959418 43959418 single base substitution C T intron_variant MELA-AU 18 43959431 43959431 single base substitution G A intron_variant MELA-AU 18 43959435 43959435 single base substitution G A intron_variant MELA-AU 18 43959586 43959586 single base substitution G A intron_variant MELA-AU 18 43959795 43959796 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 43960034 43960034 single base substitution G A intron_variant MELA-AU 18 43960131 43960131 single base substitution C T intron_variant MELA-AU 18 43960273 43960273 single base substitution G A intron_variant MELA-AU 18 43960283 43960283 single base substitution C T intron_variant MELA-AU 18 43960790 43960790 single base substitution T G intron_variant MELA-AU 18 43961064 43961064 single base substitution G A intron_variant MELA-AU 18 43961103 43961103 single base substitution G A intron_variant MELA-AU 18 43961221 43961221 single base substitution C T intron_variant MELA-AU 18 43961329 43961329 single base substitution C T intron_variant MELA-AU 18 43961366 43961366 single base substitution G A intron_variant MELA-AU 18 43961385 43961385 single base substitution G A intron_variant MELA-AU 18 43961438 43961438 single base substitution T C intron_variant MELA-AU 18 43961486 43961486 single base substitution G A intron_variant MELA-AU 18 43961567 43961567 single base substitution G A intron_variant MELA-AU 18 43961717 43961717 single base substitution C T intron_variant MELA-AU 18 43961867 43961868 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 43961872 43961872 single base substitution G A intron_variant MELA-AU 18 43962020 43962020 single base substitution C T intron_variant MELA-AU 18 43962242 43962242 single base substitution C T intron_variant MELA-AU 18 43962681 43962682 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 18 43962831 43962831 single base substitution C T intron_variant MELA-AU 18 43963326 43963326 single base substitution C T intron_variant MELA-AU 18 43963333 43963333 single base substitution G A intron_variant MELA-AU 18 43963947 43963947 single base substitution C T intron_variant MELA-AU 18 43963978 43963978 single base substitution C T intron_variant MELA-AU 18 43964140 43964140 single base substitution C T intron_variant MELA-AU 18 43964172 43964172 single base substitution C T intron_variant MELA-AU 18 43964214 43964214 single base substitution G A intron_variant MELA-AU 18 43964286 43964286 single base substitution G A intron_variant MELA-AU 18 43964343 43964343 single base substitution C T intron_variant MELA-AU 18 43964358 43964358 single base substitution G A intron_variant MELA-AU 18 43964528 43964528 single base substitution G A intron_variant MELA-AU 18 43964602 43964602 single base substitution G A intron_variant MELA-AU 18 43964617 43964617 single base substitution C T intron_variant MELA-AU 18 43965050 43965050 single base substitution G A intron_variant MELA-AU 18 43965084 43965084 single base substitution G A intron_variant MELA-AU 18 43965276 43965276 single base substitution G A intron_variant MELA-AU 18 43965768 43965768 single base substitution G A intron_variant MELA-AU 18 43965816 43965816 single base substitution A G intron_variant MELA-AU 18 43965857 43965857 single base substitution C T intron_variant MELA-AU 18 43965931 43965931 single base substitution C T intron_variant MELA-AU 18 43966084 43966084 single base substitution C T intron_variant MELA-AU 18 43966223 43966223 single base substitution G A intron_variant MELA-AU 18 43966415 43966428 deletion of <=200bp TATCAATTTTTTTT - intron_variant MELA-AU 18 43966513 43966513 single base substitution C T intron_variant MELA-AU 18 43966586 43966586 single base substitution A G intron_variant MELA-AU 18 43966668 43966668 single base substitution C T intron_variant MELA-AU 18 43966789 43966789 single base substitution C T intron_variant MELA-AU 18 43967292 43967292 single base substitution C T intron_variant MELA-AU 18 43968151 43968152 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 43968399 43968399 single base substitution C T intron_variant MELA-AU 18 43968430 43968430 single base substitution T C intron_variant MELA-AU 18 43968628 43968628 single base substitution G A intron_variant MELA-AU 18 43968756 43968756 single base substitution T A intron_variant MELA-AU 18 43968822 43968822 single base substitution G A intron_variant MELA-AU 18 43968827 43968827 single base substitution G A intron_variant MELA-AU 18 43968982 43968982 single base substitution T A intron_variant MELA-AU 18 43969029 43969029 single base substitution A G intron_variant MELA-AU 18 43969697 43969697 single base substitution C T intron_variant MELA-AU 18 43969814 43969814 single base substitution C T intron_variant MELA-AU 18 43969844 43969844 single base substitution A G intron_variant MELA-AU 18 43970095 43970095 single base substitution C T intron_variant MELA-AU 18 43970214 43970214 single base substitution C G intron_variant MELA-AU 18 43970220 43970220 single base substitution C T intron_variant MELA-AU 18 43970613 43970613 single base substitution C T intron_variant MELA-AU 18 43970663 43970663 single base substitution G A intron_variant MELA-AU 18 43970675 43970675 single base substitution G A intron_variant MELA-AU 18 43970697 43970697 single base substitution C T intron_variant MELA-AU 18 43970755 43970755 single base substitution C T intron_variant MELA-AU 18 43971122 43971122 single base substitution C T intron_variant MELA-AU 18 43971294 43971294 single base substitution C T intron_variant MELA-AU 18 43971575 43971575 single base substitution C T intron_variant MELA-AU 18 43971679 43971679 single base substitution C T intron_variant MELA-AU 18 43971859 43971859 single base substitution C T intron_variant MELA-AU 18 43972088 43972088 single base substitution C G intron_variant MELA-AU 18 43972160 43972160 single base substitution C T intron_variant MELA-AU 18 43972393 43972393 single base substitution G A intron_variant MELA-AU 18 43972423 43972423 single base substitution G T intron_variant MELA-AU 18 43972875 43972876 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 43972962 43972962 single base substitution C T intron_variant MELA-AU 18 43973292 43973292 single base substitution G A intron_variant MELA-AU 18 43973329 43973329 single base substitution G A intron_variant MELA-AU 18 43973407 43973407 single base substitution C T intron_variant MELA-AU 18 43973733 43973733 single base substitution G A intron_variant MELA-AU 18 43973835 43973835 single base substitution C T intron_variant MELA-AU 18 43973953 43973953 single base substitution C T intron_variant MELA-AU 18 43974138 43974138 single base substitution G A intron_variant MELA-AU 18 43974335 43974335 single base substitution G A intron_variant MELA-AU 18 43974364 43974365 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 43974476 43974476 single base substitution C T intron_variant MELA-AU 18 43974918 43974918 single base substitution G A intron_variant MELA-AU 18 43975051 43975051 single base substitution G A intron_variant MELA-AU 18 43975077 43975077 single base substitution C T intron_variant MELA-AU 18 43975164 43975165 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 43975338 43975338 single base substitution C T intron_variant MELA-AU 18 43975399 43975400 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 43975574 43975574 single base substitution T G intron_variant MELA-AU 18 43975606 43975606 single base substitution C T intron_variant MELA-AU 18 43975649 43975649 single base substitution G A intron_variant MELA-AU 18 43975795 43975795 single base substitution G A intron_variant MELA-AU 18 43976116 43976116 single base substitution C T intron_variant MELA-AU 18 43976189 43976189 single base substitution C T intron_variant MELA-AU 18 43976264 43976266 deletion of <=200bp GTT - intron_variant MELA-AU 18 43976333 43976333 single base substitution G A intron_variant MELA-AU 18 43976401 43976401 single base substitution G C intron_variant MELA-AU 18 43976613 43976613 single base substitution G A intron_variant MELA-AU 18 43976614 43976614 single base substitution G A intron_variant MELA-AU 18 43976856 43976856 single base substitution C T intron_variant MELA-AU 18 43976916 43976916 single base substitution C T intron_variant MELA-AU 18 43976917 43976917 single base substitution C T intron_variant MELA-AU 18 43976928 43976928 single base substitution C T intron_variant MELA-AU 18 43976932 43976932 single base substitution C T intron_variant MELA-AU 18 43977127 43977127 single base substitution A G intron_variant MELA-AU 18 43977138 43977138 single base substitution G A intron_variant MELA-AU 18 43977198 43977199 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 43977200 43977200 single base substitution T C intron_variant MELA-AU 18 43977472 43977472 single base substitution C T intron_variant MELA-AU 18 43977888 43977888 single base substitution G A intron_variant MELA-AU 18 43978303 43978304 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 43978516 43978516 single base substitution G A intron_variant MELA-AU 18 43978555 43978555 single base substitution G A intron_variant MELA-AU 18 43978707 43978707 single base substitution G A intron_variant MELA-AU 18 43979387 43979387 single base substitution G A intron_variant MELA-AU 18 43979774 43979774 single base substitution C T intron_variant MELA-AU 18 43980048 43980048 single base substitution C T intron_variant MELA-AU 18 43980200 43980200 single base substitution C A intron_variant MELA-AU 18 43980374 43980374 single base substitution C T intron_variant MELA-AU 18 43980463 43980463 single base substitution C T intron_variant MELA-AU 18 43980519 43980519 single base substitution G A intron_variant MELA-AU 18 43980562 43980562 single base substitution C T intron_variant MELA-AU 18 43980690 43980690 single base substitution C T intron_variant MELA-AU 18 43981051 43981051 single base substitution G A intron_variant MELA-AU 18 43981324 43981324 single base substitution C T intron_variant MELA-AU 18 43981496 43981496 single base substitution C T intron_variant MELA-AU 18 43981590 43981590 single base substitution C T intron_variant MELA-AU 18 43981700 43981700 single base substitution G A intron_variant MELA-AU 18 43981752 43981752 single base substitution C T intron_variant MELA-AU 18 43981925 43981925 single base substitution C T intron_variant MELA-AU 18 43982022 43982022 single base substitution T A intron_variant MELA-AU 18 43982051 43982051 single base substitution C T intron_variant MELA-AU 18 43982250 43982250 single base substitution T G intron_variant MELA-AU 18 43982299 43982299 single base substitution C T intron_variant MELA-AU 18 43982311 43982311 single base substitution C T intron_variant MELA-AU 18 43982363 43982363 single base substitution G A intron_variant MELA-AU 18 43982583 43982583 single base substitution A G intron_variant MELA-AU 18 43982769 43982769 deletion of <=200bp C - intron_variant MELA-AU 18 43982823 43982823 single base substitution G A intron_variant MELA-AU 18 43983095 43983095 single base substitution C T intron_variant MELA-AU 18 43983099 43983099 single base substitution G A intron_variant MELA-AU 18 43983155 43983155 single base substitution C T intron_variant MELA-AU 18 43983192 43983192 single base substitution C T intron_variant MELA-AU 18 43983217 43983217 single base substitution C T intron_variant MELA-AU 18 43983287 43983287 single base substitution A T intron_variant MELA-AU 18 43983314 43983314 single base substitution A G intron_variant MELA-AU 18 43983341 43983341 single base substitution G A intron_variant MELA-AU 18 43983557 43983557 single base substitution C T intron_variant MELA-AU 18 43983725 43983725 single base substitution C A intron_variant MELA-AU 18 43983848 43983848 single base substitution A T intron_variant MELA-AU 18 43983872 43983872 single base substitution C T intron_variant MELA-AU 18 43983940 43983940 single base substitution G A intron_variant MELA-AU 18 43983977 43983977 single base substitution C T intron_variant MELA-AU 18 43983978 43983978 single base substitution C T intron_variant MELA-AU 18 43983980 43983980 single base substitution C T intron_variant MELA-AU 18 43984072 43984072 single base substitution C T intron_variant MELA-AU 18 43984365 43984365 single base substitution C T intron_variant MELA-AU 18 43984651 43984651 single base substitution G A intron_variant MELA-AU 18 43984822 43984822 single base substitution C T intron_variant MELA-AU 18 43984965 43984965 single base substitution G A intron_variant MELA-AU 18 43985035 43985035 single base substitution C T intron_variant MELA-AU 18 43985517 43985517 single base substitution G A intron_variant MELA-AU 18 43985519 43985519 single base substitution G A intron_variant MELA-AU 18 43985563 43985563 single base substitution C T intron_variant MELA-AU 18 43985828 43985828 single base substitution G A intron_variant MELA-AU 18 43985836 43985836 single base substitution C T intron_variant MELA-AU 18 43986551 43986551 single base substitution C T intron_variant MELA-AU 18 43986561 43986561 single base substitution A G intron_variant MELA-AU 18 43986705 43986705 single base substitution C T intron_variant MELA-AU 18 43986762 43986762 single base substitution C T intron_variant MELA-AU 18 43986886 43986886 single base substitution G A intron_variant MELA-AU 18 43986890 43986890 single base substitution G A intron_variant MELA-AU 18 43986912 43986912 single base substitution C T intron_variant MELA-AU 18 43987315 43987315 single base substitution G A intron_variant MELA-AU 18 43987326 43987326 single base substitution G A intron_variant MELA-AU 18 43987381 43987381 single base substitution C T intron_variant MELA-AU 18 43987837 43987837 single base substitution G A intron_variant MELA-AU 18 43987889 43987889 single base substitution C T intron_variant MELA-AU 18 43987983 43987983 single base substitution C T intron_variant MELA-AU 18 43988139 43988139 single base substitution G A intron_variant MELA-AU 18 43988379 43988379 single base substitution G A intron_variant MELA-AU 18 43988391 43988391 single base substitution G A intron_variant MELA-AU 18 43988442 43988442 single base substitution C T intron_variant MELA-AU 18 43988651 43988651 single base substitution G A intron_variant MELA-AU 18 43988811 43988811 single base substitution C T intron_variant MELA-AU 18 43988972 43988972 single base substitution C T intron_variant MELA-AU 18 43989054 43989054 single base substitution G A intron_variant MELA-AU 18 43989169 43989169 single base substitution C T intron_variant MELA-AU 18 43989389 43989389 single base substitution C T intron_variant MELA-AU 18 43989661 43989661 single base substitution A C intron_variant MELA-AU 18 43989792 43989792 single base substitution C T intron_variant MELA-AU 18 43990113 43990113 single base substitution C T intron_variant MELA-AU 18 43990529 43990529 single base substitution C T intron_variant MELA-AU 18 43990758 43990758 single base substitution C T intron_variant MELA-AU 18 43990814 43990814 single base substitution C T intron_variant MELA-AU 18 43991039 43991039 single base substitution G A intron_variant MELA-AU 18 43991138 43991138 single base substitution G A intron_variant MELA-AU 18 43991242 43991242 single base substitution G T intron_variant MELA-AU 18 43991461 43991461 single base substitution C T intron_variant MELA-AU 18 43991543 43991543 single base substitution G A intron_variant MELA-AU 18 43991554 43991554 single base substitution C T intron_variant MELA-AU 18 43991851 43991851 single base substitution G A intron_variant MELA-AU 18 43992127 43992127 single base substitution C T intron_variant MELA-AU 18 43992200 43992200 single base substitution C T intron_variant MELA-AU 18 43992381 43992381 single base substitution G C intron_variant MELA-AU 18 43992680 43992681 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 43992869 43992869 single base substitution C T intron_variant MELA-AU 18 43992901 43992901 single base substitution C T intron_variant MELA-AU 18 43992991 43992991 single base substitution C T intron_variant MELA-AU 18 43993293 43993293 single base substitution C T intron_variant MELA-AU 18 43993328 43993328 single base substitution C T intron_variant MELA-AU 18 43993346 43993346 single base substitution C T intron_variant MELA-AU 18 43993418 43993418 single base substitution C T intron_variant MELA-AU 18 43993596 43993596 single base substitution C T intron_variant MELA-AU 18 43993657 43993657 single base substitution C T intron_variant MELA-AU 18 43993790 43993790 single base substitution C T intron_variant MELA-AU 18 43993829 43993829 single base substitution G A intron_variant MELA-AU 18 43994373 43994373 single base substitution G A intron_variant MELA-AU 18 43994460 43994460 single base substitution A G intron_variant MELA-AU 18 43994483 43994483 single base substitution C T intron_variant MELA-AU 18 43994615 43994615 single base substitution C T intron_variant MELA-AU 18 43995546 43995546 single base substitution C T intron_variant MELA-AU 18 43995547 43995547 single base substitution C T intron_variant MELA-AU 18 43995736 43995736 single base substitution C T intron_variant MELA-AU 18 43995806 43995806 single base substitution G A intron_variant MELA-AU 18 43996038 43996038 single base substitution G T intron_variant MELA-AU 18 43996777 43996777 single base substitution G A intron_variant MELA-AU 18 43997043 43997043 single base substitution C T intron_variant MELA-AU 18 43997144 43997144 single base substitution G A intron_variant MELA-AU 18 43997284 43997284 single base substitution A G intron_variant MELA-AU 18 43997362 43997362 single base substitution C T intron_variant MELA-AU 18 43997762 43997762 single base substitution T A intron_variant MELA-AU 18 43998234 43998234 single base substitution C T intron_variant MELA-AU 18 43998680 43998680 single base substitution C T intron_variant MELA-AU 18 43998933 43998933 single base substitution A G intron_variant MELA-AU 18 43998981 43998981 single base substitution C T intron_variant MELA-AU 18 43999368 43999368 single base substitution C T intron_variant MELA-AU 18 44000715 44000715 single base substitution G A intron_variant MELA-AU 18 44000995 44000995 single base substitution G A intron_variant MELA-AU 18 44001098 44001098 single base substitution C T intron_variant MELA-AU 18 44001217 44001217 single base substitution C T intron_variant MELA-AU 18 44002015 44002015 single base substitution G A intron_variant MELA-AU 18 44002122 44002122 single base substitution C T intron_variant MELA-AU 18 44002170 44002170 single base substitution T C intron_variant MELA-AU 18 44002182 44002182 single base substitution C T intron_variant MELA-AU 18 44002241 44002241 single base substitution C T intron_variant MELA-AU 18 44002365 44002365 single base substitution G A intron_variant MELA-AU 18 44002405 44002405 single base substitution G A intron_variant MELA-AU 18 44002485 44002485 single base substitution C T intron_variant MELA-AU 18 44002519 44002519 single base substitution C T intron_variant MELA-AU 18 44002698 44002698 single base substitution G A intron_variant MELA-AU 18 44002834 44002834 single base substitution C G intron_variant MELA-AU 18 44003049 44003049 single base substitution C T intron_variant MELA-AU 18 44003054 44003054 single base substitution C T intron_variant MELA-AU 18 44003308 44003308 single base substitution C T intron_variant MELA-AU 18 44003325 44003325 single base substitution G A intron_variant MELA-AU 18 44003487 44003487 single base substitution C T intron_variant MELA-AU 18 44003573 44003573 single base substitution C T intron_variant MELA-AU 18 44003689 44003689 single base substitution C T intron_variant MELA-AU 18 44003909 44003909 single base substitution C T intron_variant MELA-AU 18 44004003 44004003 single base substitution C T intron_variant MELA-AU 18 44004097 44004097 single base substitution G A intron_variant MELA-AU 18 44004114 44004114 single base substitution C T intron_variant MELA-AU 18 44004217 44004217 single base substitution C T intron_variant MELA-AU 18 44004369 44004369 single base substitution G A intron_variant MELA-AU 18 44004563 44004563 single base substitution C G intron_variant MELA-AU 18 44004768 44004768 single base substitution G A intron_variant MELA-AU 18 44004897 44004897 single base substitution G A intron_variant MELA-AU 18 44004903 44004903 single base substitution C T intron_variant MELA-AU 18 44005032 44005032 single base substitution C T intron_variant MELA-AU 18 44005051 44005051 single base substitution C T intron_variant MELA-AU 18 44005177 44005177 single base substitution C T intron_variant MELA-AU 18 44005218 44005218 single base substitution C T intron_variant MELA-AU 18 44005391 44005391 single base substitution C T intron_variant MELA-AU 18 44005430 44005430 single base substitution C T intron_variant MELA-AU 18 44005442 44005442 single base substitution C T intron_variant MELA-AU 18 44006066 44006066 single base substitution G A intron_variant MELA-AU 18 44006367 44006367 single base substitution C T intron_variant MELA-AU 18 44006372 44006372 single base substitution C T intron_variant MELA-AU 18 44006505 44006505 single base substitution C T intron_variant MELA-AU 18 44006524 44006524 single base substitution C T intron_variant MELA-AU 18 44006540 44006540 single base substitution C T intron_variant MELA-AU 18 44007072 44007072 single base substitution C T intron_variant MELA-AU 18 44007141 44007141 single base substitution C G intron_variant MELA-AU 18 44007312 44007312 single base substitution C T intron_variant MELA-AU 18 44007400 44007400 single base substitution G A intron_variant MELA-AU 18 44007567 44007567 single base substitution C T intron_variant MELA-AU 18 44007774 44007774 single base substitution G A intron_variant MELA-AU 18 44007793 44007793 single base substitution G A intron_variant MELA-AU 18 44007831 44007831 single base substitution G A intron_variant MELA-AU 18 44008060 44008060 single base substitution G A intron_variant MELA-AU 18 44008070 44008070 single base substitution C T intron_variant MELA-AU 18 44008156 44008156 single base substitution G A intron_variant MELA-AU 18 44008521 44008521 single base substitution C T intron_variant MELA-AU 18 44008597 44008597 single base substitution G A intron_variant MELA-AU 18 44008658 44008658 single base substitution G A intron_variant MELA-AU 18 44008798 44008798 single base substitution G A intron_variant MELA-AU 18 44008840 44008840 single base substitution G T intron_variant MELA-AU 18 44008991 44008991 single base substitution C T intron_variant MELA-AU 18 44008992 44008992 single base substitution C T intron_variant MELA-AU 18 44009120 44009120 single base substitution C T intron_variant MELA-AU 18 44009332 44009332 single base substitution C T intron_variant MELA-AU 18 44009385 44009385 single base substitution A T intron_variant MELA-AU 18 44009559 44009574 deletion of <=200bp GTATAACATCATACAG - intron_variant MELA-AU 18 44009741 44009741 single base substitution C T intron_variant MELA-AU 18 44009914 44009914 single base substitution C T intron_variant MELA-AU 18 44010449 44010449 single base substitution C T intron_variant MELA-AU 18 44011070 44011070 single base substitution T A intron_variant MELA-AU 18 44011408 44011408 single base substitution C A intron_variant MELA-AU 18 44011879 44011879 single base substitution G A intron_variant MELA-AU 18 44012153 44012153 single base substitution G A intron_variant MELA-AU 18 44012336 44012336 single base substitution C T intron_variant MELA-AU 18 44012422 44012422 single base substitution G A intron_variant MELA-AU 18 44012669 44012669 single base substitution C T intron_variant MELA-AU 18 44012694 44012694 single base substitution G A intron_variant MELA-AU 18 44012862 44012862 single base substitution C T intron_variant MELA-AU 18 44012895 44012895 single base substitution G A intron_variant MELA-AU 18 44012958 44012958 single base substitution C T intron_variant MELA-AU 18 44013022 44013022 single base substitution G A intron_variant MELA-AU 18 44013083 44013083 single base substitution G A intron_variant MELA-AU 18 44013303 44013304 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 44013303 44013304 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A4V 11CC>TT MELA-AU 18 44013303 44013304 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant A71V 212CC>TT MELA-AU 18 44013404 44013404 single base substitution C T intron_variant MELA-AU 18 44013404 44013404 single base substitution C T stop_gained Q105* 313C>T MELA-AU 18 44013404 44013404 single base substitution C T stop_gained Q38* 112C>T MELA-AU 18 44013434 44013434 single base substitution G A intron_variant MELA-AU 18 44013434 44013434 single base substitution G A missense_variant E115K 343G>A MELA-AU 18 44013434 44013434 single base substitution G A missense_variant E48K 142G>A MELA-AU 18 44014176 44014176 single base substitution G A intron_variant MELA-AU 18 44014298 44014298 single base substitution C T intron_variant MELA-AU 18 44014501 44014501 single base substitution G A intron_variant MELA-AU 18 44014527 44014527 single base substitution G A intron_variant MELA-AU 18 44014568 44014568 single base substitution G A intron_variant MELA-AU 18 44015081 44015081 single base substitution C G intron_variant MELA-AU 18 44015296 44015296 single base substitution C T intron_variant MELA-AU 18 44015296 44015296 single base substitution C T missense_variant P141L 422C>T MELA-AU 18 44015296 44015296 single base substitution C T missense_variant P74L 221C>T MELA-AU 18 44015443 44015443 single base substitution C T intron_variant MELA-AU 18 44015482 44015482 single base substitution C T intron_variant MELA-AU 18 44015502 44015502 single base substitution C T intron_variant MELA-AU 18 44015510 44015510 single base substitution C T intron_variant MELA-AU 18 44015682 44015682 single base substitution C T intron_variant MELA-AU 18 44015762 44015762 single base substitution C T intron_variant MELA-AU 18 44015896 44015896 single base substitution G A intron_variant MELA-AU 18 44015988 44015988 single base substitution A G intron_variant MELA-AU 18 44016022 44016022 single base substitution G A intron_variant MELA-AU 18 44016500 44016500 single base substitution C T intron_variant MELA-AU 18 44016539 44016539 single base substitution C T intron_variant MELA-AU 18 44016631 44016631 single base substitution C T intron_variant MELA-AU 18 44016794 44016794 single base substitution C T intron_variant MELA-AU 18 44017049 44017049 single base substitution C T intron_variant MELA-AU 18 44017437 44017437 single base substitution C T intron_variant MELA-AU 18 44017529 44017529 single base substitution C T intron_variant MELA-AU 18 44017837 44017837 single base substitution C A intron_variant MELA-AU 18 44017840 44017840 single base substitution G A intron_variant MELA-AU 18 44017880 44017880 single base substitution C T intron_variant MELA-AU 18 44017897 44017897 single base substitution C T intron_variant MELA-AU 18 44018290 44018290 single base substitution C T intron_variant MELA-AU 18 44018304 44018305 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 44018598 44018598 single base substitution C T intron_variant MELA-AU 18 44018705 44018705 single base substitution A G intron_variant MELA-AU 18 44018727 44018727 single base substitution C T intron_variant MELA-AU 18 44018732 44018732 single base substitution C T intron_variant MELA-AU 18 44018770 44018770 single base substitution C T intron_variant MELA-AU 18 44019027 44019028 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 44019208 44019208 single base substitution C T intron_variant MELA-AU 18 44019675 44019675 single base substitution A C intron_variant MELA-AU 18 44019826 44019826 single base substitution G C intron_variant MELA-AU 18 44019857 44019857 single base substitution G A intron_variant MELA-AU 18 44020029 44020029 single base substitution G A intron_variant MELA-AU 18 44020447 44020447 single base substitution T A intron_variant MELA-AU 18 44020548 44020548 single base substitution C T intron_variant MELA-AU 18 44020936 44020936 single base substitution G A intron_variant MELA-AU 18 44021040 44021040 single base substitution C T intron_variant MELA-AU 18 44021115 44021115 single base substitution A G intron_variant MELA-AU 18 44021224 44021224 single base substitution G A intron_variant MELA-AU 18 44021647 44021647 single base substitution C T intron_variant MELA-AU 18 44022265 44022265 single base substitution G A intron_variant MELA-AU 18 44022287 44022287 single base substitution G A intron_variant MELA-AU 18 44022584 44022584 single base substitution T G intron_variant MELA-AU 18 44022584 44022584 single base substitution T G upstream_gene_variant MELA-AU 18 44022637 44022637 single base substitution C T intron_variant MELA-AU 18 44022637 44022637 single base substitution C T upstream_gene_variant MELA-AU 18 44022796 44022796 single base substitution G A intron_variant MELA-AU 18 44022796 44022796 single base substitution G A upstream_gene_variant MELA-AU 18 44022861 44022861 single base substitution C T intron_variant MELA-AU 18 44022861 44022861 single base substitution C T upstream_gene_variant MELA-AU 18 44023048 44023048 single base substitution C T intron_variant MELA-AU 18 44023048 44023048 single base substitution C T upstream_gene_variant MELA-AU 18 44023704 44023704 single base substitution A C intron_variant MELA-AU 18 44023704 44023704 single base substitution A C upstream_gene_variant MELA-AU 18 44024013 44024013 single base substitution C T intron_variant MELA-AU 18 44024013 44024013 single base substitution C T upstream_gene_variant MELA-AU 18 44024072 44024072 single base substitution G A intron_variant MELA-AU 18 44024072 44024072 single base substitution G A upstream_gene_variant MELA-AU 18 44024330 44024330 single base substitution C T intron_variant MELA-AU 18 44024330 44024330 single base substitution C T upstream_gene_variant MELA-AU 18 44024342 44024342 single base substitution C T intron_variant MELA-AU 18 44024342 44024342 single base substitution C T upstream_gene_variant MELA-AU 18 44024408 44024408 single base substitution T G intron_variant MELA-AU 18 44024408 44024408 single base substitution T G upstream_gene_variant MELA-AU 18 44024752 44024752 single base substitution T C intron_variant MELA-AU 18 44024752 44024752 single base substitution T C upstream_gene_variant MELA-AU 18 44024783 44024783 single base substitution C T intron_variant MELA-AU 18 44024783 44024783 single base substitution C T upstream_gene_variant MELA-AU 18 44024907 44024907 single base substitution C G intron_variant MELA-AU 18 44024907 44024907 single base substitution C G upstream_gene_variant MELA-AU 18 44024997 44024997 single base substitution C T intron_variant MELA-AU 18 44024997 44024997 single base substitution C T upstream_gene_variant MELA-AU 18 44025036 44025036 single base substitution C T intron_variant MELA-AU 18 44025036 44025036 single base substitution C T upstream_gene_variant MELA-AU 18 44025182 44025182 single base substitution C T intron_variant MELA-AU 18 44025182 44025182 single base substitution C T upstream_gene_variant MELA-AU 18 44025220 44025220 single base substitution C T intron_variant MELA-AU 18 44025220 44025220 single base substitution C T upstream_gene_variant MELA-AU 18 44025257 44025257 single base substitution C T intron_variant MELA-AU 18 44025257 44025257 single base substitution C T upstream_gene_variant MELA-AU 18 44025400 44025400 single base substitution C T intron_variant MELA-AU 18 44025400 44025400 single base substitution C T upstream_gene_variant MELA-AU 18 44025480 44025480 single base substitution C T intron_variant MELA-AU 18 44025480 44025480 single base substitution C T upstream_gene_variant MELA-AU 18 44025504 44025504 single base substitution C T intron_variant MELA-AU 18 44025504 44025504 single base substitution C T upstream_gene_variant MELA-AU 18 44025508 44025508 single base substitution C T intron_variant MELA-AU 18 44025508 44025508 single base substitution C T upstream_gene_variant MELA-AU 18 44025556 44025556 single base substitution G A intron_variant MELA-AU 18 44025556 44025556 single base substitution G A upstream_gene_variant MELA-AU 18 44025757 44025757 single base substitution T C intron_variant MELA-AU 18 44025757 44025757 single base substitution T C upstream_gene_variant MELA-AU 18 44025844 44025844 single base substitution C T intron_variant MELA-AU 18 44025844 44025844 single base substitution C T upstream_gene_variant MELA-AU 18 44025914 44025914 single base substitution C T intron_variant MELA-AU 18 44025914 44025914 single base substitution C T upstream_gene_variant MELA-AU 18 44025974 44025974 single base substitution T C intron_variant MELA-AU 18 44025974 44025974 single base substitution T C upstream_gene_variant MELA-AU 18 44026120 44026120 single base substitution C T intron_variant MELA-AU 18 44026120 44026120 single base substitution C T upstream_gene_variant MELA-AU 18 44026227 44026227 single base substitution C T intron_variant MELA-AU 18 44026227 44026227 single base substitution C T upstream_gene_variant MELA-AU 18 44026293 44026293 single base substitution A G intron_variant MELA-AU 18 44026293 44026293 single base substitution A G upstream_gene_variant MELA-AU 18 44026738 44026738 single base substitution C T intron_variant MELA-AU 18 44026738 44026738 single base substitution C T upstream_gene_variant MELA-AU 18 44026776 44026776 single base substitution C T intron_variant MELA-AU 18 44026776 44026776 single base substitution C T upstream_gene_variant MELA-AU 18 44027091 44027091 single base substitution G A intron_variant MELA-AU 18 44027091 44027091 single base substitution G A upstream_gene_variant MELA-AU 18 44027180 44027180 single base substitution C T intron_variant MELA-AU 18 44027180 44027180 single base substitution C T upstream_gene_variant MELA-AU 18 44027190 44027190 single base substitution C T intron_variant MELA-AU 18 44027190 44027190 single base substitution C T upstream_gene_variant MELA-AU 18 44027232 44027232 single base substitution A C intron_variant MELA-AU 18 44027232 44027232 single base substitution A C upstream_gene_variant MELA-AU 18 44027368 44027368 single base substitution C T intron_variant MELA-AU 18 44027368 44027368 single base substitution C T upstream_gene_variant MELA-AU 18 44027395 44027395 single base substitution G A intron_variant MELA-AU 18 44027395 44027395 single base substitution G A upstream_gene_variant MELA-AU 18 44027406 44027406 single base substitution C T intron_variant MELA-AU 18 44027406 44027406 single base substitution C T upstream_gene_variant MELA-AU 18 44027491 44027492 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 18 44027491 44027492 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 44027555 44027555 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44027555 44027555 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 18 44027555 44027555 single base substitution C T exon_variant MELA-AU 18 44027555 44027555 single base substitution C T missense_variant P105L 314C>T MELA-AU 18 44027555 44027555 single base substitution C T missense_variant P172L 515C>T MELA-AU 18 44027845 44027845 single base substitution G A intron_variant MELA-AU 18 44028002 44028002 single base substitution C T intron_variant MELA-AU 18 44028035 44028035 single base substitution C T intron_variant MELA-AU 18 44028077 44028077 single base substitution G A intron_variant MELA-AU 18 44028176 44028176 single base substitution C T intron_variant MELA-AU 18 44028181 44028181 single base substitution G A intron_variant MELA-AU 18 44028249 44028250 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 44028456 44028456 single base substitution C T intron_variant MELA-AU 18 44028576 44028576 single base substitution C T intron_variant MELA-AU 18 44028798 44028798 single base substitution C T intron_variant MELA-AU 18 44028842 44028842 single base substitution C T intron_variant MELA-AU 18 44028934 44028934 single base substitution C T intron_variant MELA-AU 18 44028980 44028980 single base substitution C T intron_variant MELA-AU 18 44029187 44029187 single base substitution G A intron_variant MELA-AU 18 44029193 44029193 single base substitution C T intron_variant MELA-AU 18 44029209 44029209 single base substitution C G intron_variant MELA-AU 18 44029350 44029350 single base substitution C T intron_variant MELA-AU 18 44029484 44029484 single base substitution C T intron_variant MELA-AU 18 44029486 44029486 single base substitution C T intron_variant MELA-AU 18 44029887 44029887 single base substitution C T intron_variant MELA-AU 18 44030131 44030131 single base substitution G A intron_variant MELA-AU 18 44030193 44030193 single base substitution T C intron_variant MELA-AU 18 44030303 44030303 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44030303 44030303 single base substitution C T exon_variant MELA-AU 18 44030303 44030303 single base substitution C T synonymous_variant F153F 459C>T MELA-AU 18 44030303 44030303 single base substitution C T synonymous_variant F220F 660C>T MELA-AU 18 44030303 44030303 single base substitution C T synonymous_variant F28F 84C>T MELA-AU 18 44030304 44030304 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44030304 44030304 single base substitution C T exon_variant MELA-AU 18 44030304 44030304 single base substitution C T missense_variant L154F 460C>T MELA-AU 18 44030304 44030304 single base substitution C T missense_variant L221F 661C>T MELA-AU 18 44030304 44030304 single base substitution C T missense_variant L29F 85C>T MELA-AU 18 44030803 44030803 single base substitution G A downstream_gene_variant MELA-AU 18 44030803 44030803 single base substitution G A intron_variant MELA-AU 18 44030911 44030911 single base substitution C T downstream_gene_variant MELA-AU 18 44030911 44030911 single base substitution C T intron_variant MELA-AU 18 44030954 44030954 single base substitution G A downstream_gene_variant MELA-AU 18 44030954 44030954 single base substitution G A intron_variant MELA-AU 18 44031222 44031222 single base substitution C T downstream_gene_variant MELA-AU 18 44031222 44031222 single base substitution C T intron_variant MELA-AU 18 44031330 44031330 single base substitution G A downstream_gene_variant MELA-AU 18 44031330 44031330 single base substitution G A intron_variant MELA-AU 18 44031537 44031537 single base substitution C T downstream_gene_variant MELA-AU 18 44031537 44031537 single base substitution C T intron_variant MELA-AU 18 44031549 44031549 single base substitution G A downstream_gene_variant MELA-AU 18 44031549 44031549 single base substitution G A intron_variant MELA-AU 18 44031628 44031628 single base substitution C T downstream_gene_variant MELA-AU 18 44031628 44031628 single base substitution C T intron_variant MELA-AU 18 44031639 44031639 single base substitution G A downstream_gene_variant MELA-AU 18 44031639 44031639 single base substitution G A intron_variant MELA-AU 18 44031690 44031690 single base substitution C T downstream_gene_variant MELA-AU 18 44031690 44031690 single base substitution C T intron_variant MELA-AU 18 44031751 44031751 single base substitution G A downstream_gene_variant MELA-AU 18 44031751 44031751 single base substitution G A intron_variant MELA-AU 18 44031784 44031784 single base substitution A C downstream_gene_variant MELA-AU 18 44031784 44031784 single base substitution A C intron_variant MELA-AU 18 44031965 44031965 single base substitution G A downstream_gene_variant MELA-AU 18 44031965 44031965 single base substitution G A intron_variant MELA-AU 18 44032066 44032066 single base substitution G A downstream_gene_variant MELA-AU 18 44032066 44032066 single base substitution G A intron_variant MELA-AU 18 44032203 44032203 single base substitution G A downstream_gene_variant MELA-AU 18 44032203 44032203 single base substitution G A intron_variant MELA-AU 18 44032261 44032261 single base substitution G A downstream_gene_variant MELA-AU 18 44032261 44032261 single base substitution G A intron_variant MELA-AU 18 44032484 44032484 single base substitution C T downstream_gene_variant MELA-AU 18 44032484 44032484 single base substitution C T intron_variant MELA-AU 18 44032642 44032642 single base substitution C T downstream_gene_variant MELA-AU 18 44032642 44032642 single base substitution C T intron_variant MELA-AU 18 44032653 44032653 single base substitution G A downstream_gene_variant MELA-AU 18 44032653 44032653 single base substitution G A intron_variant MELA-AU 18 44032734 44032734 single base substitution C T downstream_gene_variant MELA-AU 18 44032734 44032734 single base substitution C T intron_variant MELA-AU 18 44032762 44032762 single base substitution G A downstream_gene_variant MELA-AU 18 44032762 44032762 single base substitution G A intron_variant MELA-AU 18 44032903 44032903 single base substitution T A downstream_gene_variant MELA-AU 18 44032903 44032903 single base substitution T A intron_variant MELA-AU 18 44032921 44032921 single base substitution G A downstream_gene_variant MELA-AU 18 44032921 44032921 single base substitution G A intron_variant MELA-AU 18 44033224 44033224 single base substitution T G downstream_gene_variant MELA-AU 18 44033224 44033224 single base substitution T G intron_variant MELA-AU 18 44033225 44033225 single base substitution G A downstream_gene_variant MELA-AU 18 44033225 44033225 single base substitution G A intron_variant MELA-AU 18 44033375 44033375 single base substitution C T downstream_gene_variant MELA-AU 18 44033375 44033375 single base substitution C T intron_variant MELA-AU 18 44033429 44033429 single base substitution A T downstream_gene_variant MELA-AU 18 44033429 44033429 single base substitution A T intron_variant MELA-AU 18 44033479 44033479 single base substitution G A downstream_gene_variant MELA-AU 18 44033479 44033479 single base substitution G A intron_variant MELA-AU 18 44033519 44033519 single base substitution A G downstream_gene_variant MELA-AU 18 44033519 44033519 single base substitution A G intron_variant MELA-AU 18 44033531 44033531 single base substitution G A downstream_gene_variant MELA-AU 18 44033531 44033531 single base substitution G A intron_variant MELA-AU 18 44033793 44033793 single base substitution C T downstream_gene_variant MELA-AU 18 44033793 44033793 single base substitution C T intron_variant MELA-AU 18 44033854 44033855 multiple base substitution (>=2bp and <=200bp) TA AT downstream_gene_variant MELA-AU 18 44033854 44033855 multiple base substitution (>=2bp and <=200bp) TA AT intron_variant MELA-AU 18 44034189 44034189 single base substitution G A downstream_gene_variant MELA-AU 18 44034189 44034189 single base substitution G A intron_variant MELA-AU 18 44034196 44034196 single base substitution C T downstream_gene_variant MELA-AU 18 44034196 44034196 single base substitution C T intron_variant MELA-AU 18 44034217 44034217 single base substitution A C downstream_gene_variant MELA-AU 18 44034217 44034217 single base substitution A C intron_variant MELA-AU 18 44034315 44034315 single base substitution C T downstream_gene_variant MELA-AU 18 44034315 44034315 single base substitution C T intron_variant MELA-AU 18 44034368 44034368 single base substitution C T downstream_gene_variant MELA-AU 18 44034368 44034368 single base substitution C T intron_variant MELA-AU 18 44034438 44034438 single base substitution G A downstream_gene_variant MELA-AU 18 44034438 44034438 single base substitution G A intron_variant MELA-AU 18 44034680 44034680 single base substitution C T downstream_gene_variant MELA-AU 18 44034680 44034680 single base substitution C T intron_variant MELA-AU 18 44034693 44034693 single base substitution G A downstream_gene_variant MELA-AU 18 44034693 44034693 single base substitution G A intron_variant MELA-AU 18 44035164 44035164 single base substitution G A downstream_gene_variant MELA-AU 18 44035164 44035164 single base substitution G A intron_variant MELA-AU 18 44035327 44035327 single base substitution G A intron_variant MELA-AU 18 44035367 44035367 single base substitution C T intron_variant MELA-AU 18 44035692 44035692 single base substitution G A intron_variant MELA-AU 18 44035693 44035693 single base substitution G A intron_variant MELA-AU 18 44035862 44035862 single base substitution G A intron_variant MELA-AU 18 44035910 44035910 single base substitution G A intron_variant MELA-AU 18 44035949 44035949 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44035949 44035949 single base substitution G A exon_variant MELA-AU 18 44035949 44035949 single base substitution G A missense_variant D277N 829G>A MELA-AU 18 44035949 44035949 single base substitution G A missense_variant D85N 253G>A MELA-AU 18 44035974 44035974 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44035974 44035974 single base substitution G A exon_variant MELA-AU 18 44035974 44035974 single base substitution G A missense_variant G285E 854G>A MELA-AU 18 44035974 44035974 single base substitution G A missense_variant G93E 278G>A MELA-AU 18 44035975 44035975 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44035975 44035975 single base substitution G A exon_variant MELA-AU 18 44035975 44035975 single base substitution G A synonymous_variant G285G 855G>A MELA-AU 18 44035975 44035975 single base substitution G A synonymous_variant G93G 279G>A MELA-AU 18 44036073 44036073 single base substitution C T downstream_gene_variant MELA-AU 18 44036073 44036073 single base substitution C T intron_variant MELA-AU 18 44036204 44036204 single base substitution G A downstream_gene_variant MELA-AU 18 44036204 44036204 single base substitution G A intron_variant MELA-AU 18 44036275 44036275 single base substitution C T downstream_gene_variant MELA-AU 18 44036275 44036275 single base substitution C T intron_variant MELA-AU 18 44036335 44036335 single base substitution C T downstream_gene_variant MELA-AU 18 44036335 44036335 single base substitution C T intron_variant MELA-AU 18 44036357 44036357 single base substitution C T downstream_gene_variant MELA-AU 18 44036357 44036357 single base substitution C T intron_variant MELA-AU 18 44036390 44036390 single base substitution G A downstream_gene_variant MELA-AU 18 44036390 44036390 single base substitution G A intron_variant MELA-AU 18 44036398 44036398 single base substitution C T downstream_gene_variant MELA-AU 18 44036398 44036398 single base substitution C T intron_variant MELA-AU 18 44036746 44036746 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44036746 44036746 single base substitution C T downstream_gene_variant MELA-AU 18 44036769 44036769 single base substitution T C 3_prime_UTR_variant MELA-AU 18 44036769 44036769 single base substitution T C downstream_gene_variant MELA-AU 18 44036862 44036862 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44036862 44036862 single base substitution G A downstream_gene_variant MELA-AU 18 44036865 44036865 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44036865 44036865 single base substitution G A downstream_gene_variant MELA-AU 18 44036935 44036935 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44036935 44036935 single base substitution C T downstream_gene_variant MELA-AU 18 44037206 44037206 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44037206 44037206 single base substitution G A downstream_gene_variant MELA-AU 18 44037245 44037245 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44037245 44037245 single base substitution G A downstream_gene_variant MELA-AU 18 44037386 44037386 single base substitution A G 3_prime_UTR_variant MELA-AU 18 44037386 44037386 single base substitution A G downstream_gene_variant MELA-AU 18 44037455 44037455 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44037455 44037455 single base substitution C T downstream_gene_variant MELA-AU 18 44037512 44037512 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44037512 44037512 single base substitution C T downstream_gene_variant MELA-AU 18 44037529 44037529 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44037529 44037529 single base substitution C T downstream_gene_variant MELA-AU 18 44037815 44037815 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44037815 44037815 single base substitution C T downstream_gene_variant MELA-AU 18 44038015 44038015 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44038015 44038015 single base substitution G A downstream_gene_variant MELA-AU 18 44038288 44038288 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44038288 44038288 single base substitution C T downstream_gene_variant MELA-AU 18 44038318 44038318 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44038318 44038318 single base substitution G A downstream_gene_variant MELA-AU 18 44038401 44038401 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44038401 44038401 single base substitution C T downstream_gene_variant MELA-AU 18 44038439 44038439 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44038439 44038439 single base substitution G A downstream_gene_variant MELA-AU 18 44038454 44038454 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44038454 44038454 single base substitution G A downstream_gene_variant MELA-AU 18 44038482 44038482 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44038482 44038482 single base substitution C T downstream_gene_variant MELA-AU 18 44038494 44038494 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44038494 44038494 single base substitution G A downstream_gene_variant MELA-AU 18 44038857 44038857 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44038857 44038857 single base substitution C T downstream_gene_variant MELA-AU 18 44039028 44039028 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44039028 44039028 single base substitution C T downstream_gene_variant MELA-AU 18 44039045 44039045 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44039045 44039045 single base substitution C T downstream_gene_variant MELA-AU 18 44039237 44039237 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44039237 44039237 single base substitution C T downstream_gene_variant MELA-AU 18 44039287 44039287 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44039287 44039287 single base substitution G A downstream_gene_variant MELA-AU 18 44039327 44039327 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44039327 44039327 single base substitution C T downstream_gene_variant MELA-AU 18 44039480 44039480 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44039480 44039480 single base substitution C T downstream_gene_variant MELA-AU 18 44039574 44039574 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44039574 44039574 single base substitution C T downstream_gene_variant MELA-AU 18 44039597 44039597 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44039597 44039597 single base substitution G A downstream_gene_variant MELA-AU 18 44039993 44039993 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44039993 44039993 single base substitution G A downstream_gene_variant MELA-AU 18 44040054 44040055 multiple base substitution (>=2bp and <=200bp) GG TA 3_prime_UTR_variant MELA-AU 18 44040054 44040055 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU 18 44040094 44040094 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44040094 44040094 single base substitution C T downstream_gene_variant MELA-AU 18 44040196 44040196 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44040196 44040196 single base substitution C T downstream_gene_variant MELA-AU 18 44040233 44040233 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44040233 44040233 single base substitution C T downstream_gene_variant MELA-AU 18 44040566 44040566 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44040566 44040566 single base substitution C T downstream_gene_variant MELA-AU 18 44040598 44040598 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44040598 44040598 single base substitution G A downstream_gene_variant MELA-AU 18 44040658 44040658 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44040658 44040658 single base substitution C T downstream_gene_variant MELA-AU 18 44040672 44040672 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44040672 44040672 single base substitution G A downstream_gene_variant MELA-AU 18 44040673 44040674 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 18 44040673 44040674 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 18 44040887 44040887 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44040887 44040887 single base substitution C T downstream_gene_variant MELA-AU 18 44040917 44040917 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44040917 44040917 single base substitution C T downstream_gene_variant MELA-AU 18 44041107 44041107 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44041107 44041107 single base substitution G A downstream_gene_variant MELA-AU 18 44041242 44041242 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44041242 44041242 single base substitution C T downstream_gene_variant MELA-AU 18 44041264 44041264 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44041264 44041264 single base substitution C T downstream_gene_variant MELA-AU 18 44041375 44041375 single base substitution A T 3_prime_UTR_variant MELA-AU 18 44041375 44041375 single base substitution A T downstream_gene_variant MELA-AU 18 44041384 44041384 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44041384 44041384 single base substitution G A downstream_gene_variant MELA-AU 18 44041518 44041518 single base substitution G C 3_prime_UTR_variant MELA-AU 18 44041518 44041518 single base substitution G C downstream_gene_variant MELA-AU 18 44041559 44041559 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44041559 44041559 single base substitution G A downstream_gene_variant MELA-AU 18 44041737 44041737 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44041737 44041737 single base substitution G A downstream_gene_variant MELA-AU 18 44041880 44041880 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44041880 44041880 single base substitution G A downstream_gene_variant MELA-AU 18 44042021 44042021 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44042021 44042021 single base substitution C T downstream_gene_variant MELA-AU 18 44042027 44042027 single base substitution A C 3_prime_UTR_variant MELA-AU 18 44042027 44042027 single base substitution A C downstream_gene_variant MELA-AU 18 44042063 44042063 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44042063 44042063 single base substitution G A downstream_gene_variant MELA-AU 18 44042081 44042081 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44042081 44042081 single base substitution G A downstream_gene_variant MELA-AU 18 44042105 44042105 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44042105 44042105 single base substitution G A downstream_gene_variant MELA-AU 18 44042171 44042171 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44042171 44042171 single base substitution G A downstream_gene_variant MELA-AU 18 44042232 44042232 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44042232 44042232 single base substitution C T downstream_gene_variant MELA-AU 18 44042263 44042263 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44042263 44042263 single base substitution C T downstream_gene_variant MELA-AU 18 44042295 44042295 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44042295 44042295 single base substitution C T downstream_gene_variant MELA-AU 18 44042317 44042317 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44042317 44042317 single base substitution C T downstream_gene_variant MELA-AU 18 44042331 44042331 single base substitution C T 3_prime_UTR_variant MELA-AU 18 44042331 44042331 single base substitution C T downstream_gene_variant MELA-AU 18 44042581 44042581 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44042581 44042581 single base substitution G A downstream_gene_variant MELA-AU 18 44042688 44042688 single base substitution G A 3_prime_UTR_variant MELA-AU 18 44042688 44042688 single base substitution G A downstream_gene_variant MELA-AU 18 44042933 44042933 single base substitution G T 3_prime_UTR_variant MELA-AU 18 44042933 44042933 single base substitution G T downstream_gene_variant MELA-AU 18 44042951 44042951 single base substitution A T 3_prime_UTR_variant MELA-AU 18 44042951 44042951 single base substitution A T downstream_gene_variant MELA-AU 18 44043289 44043289 single base substitution T G downstream_gene_variant MELA-AU 18 44043396 44043396 single base substitution C T downstream_gene_variant MELA-AU 18 44043559 44043559 single base substitution C G downstream_gene_variant MELA-AU 18 44043586 44043586 single base substitution G A downstream_gene_variant MELA-AU 18 44043812 44043812 single base substitution C T downstream_gene_variant MELA-AU 18 44043853 44043853 single base substitution G A downstream_gene_variant MELA-AU 18 44043862 44043862 single base substitution C A downstream_gene_variant MELA-AU 18 44044074 44044074 single base substitution G A downstream_gene_variant MELA-AU 18 44044178 44044178 single base substitution C T downstream_gene_variant MELA-AU 18 44044605 44044605 single base substitution G A downstream_gene_variant MELA-AU 18 44044699 44044699 single base substitution C T downstream_gene_variant MELA-AU 18 44044739 44044739 single base substitution C T downstream_gene_variant MELA-AU 18 44044814 44044814 single base substitution C T downstream_gene_variant MELA-AU 18 44045004 44045004 single base substitution T G downstream_gene_variant MELA-AU 18 44045143 44045143 single base substitution C T downstream_gene_variant MELA-AU 18 44045521 44045521 single base substitution G A downstream_gene_variant MELA-AU 18 44045633 44045633 single base substitution G A downstream_gene_variant MELA-AU 18 44045648 44045648 single base substitution C T downstream_gene_variant MELA-AU 18 44045669 44045669 single base substitution A G downstream_gene_variant MELA-AU 18 44045676 44045676 single base substitution C T downstream_gene_variant MELA-AU 18 44045734 44045734 single base substitution C T downstream_gene_variant MELA-AU 18 44045774 44045774 single base substitution G A downstream_gene_variant MELA-AU 18 44046012 44046012 single base substitution C T downstream_gene_variant MELA-AU 18 44046260 44046260 single base substitution G A downstream_gene_variant MELA-AU 18 44046479 44046479 single base substitution G A downstream_gene_variant MELA-AU 18 44046483 44046483 single base substitution G A downstream_gene_variant MELA-AU 18 44046699 44046699 single base substitution G A downstream_gene_variant MELA-AU 18 44046840 44046840 single base substitution A G downstream_gene_variant MELA-AU 18 44046866 44046866 single base substitution C T downstream_gene_variant MELA-AU 18 44046907 44046907 single base substitution G A downstream_gene_variant MELA-AU 18 44047274 44047274 single base substitution G A downstream_gene_variant MELA-AU 18 44047366 44047366 single base substitution G A downstream_gene_variant MELA-AU 18 44047393 44047393 single base substitution G A downstream_gene_variant MELA-AU 18 44047492 44047492 single base substitution C T downstream_gene_variant MELA-AU 18 44047587 44047587 single base substitution G A downstream_gene_variant MELA-AU 18 44047889 44047889 single base substitution C T downstream_gene_variant MELA-AU 18 44047928 44047928 single base substitution C T downstream_gene_variant MELA-AU 18 44047942 44047942 single base substitution C A downstream_gene_variant MELA-AU 18 44047968 44047968 single base substitution G A downstream_gene_variant MELA-AU 18 44048056 44048056 single base substitution C T downstream_gene_variant ORCA-IN 18 43912751 43912751 single base substitution G C intron_variant ORCA-IN 18 43912751 43912751 single base substitution G C upstream_gene_variant ORCA-IN 18 43915008 43915008 single base substitution C T 3_prime_UTR_variant ORCA-IN 18 43915008 43915008 single base substitution C T intron_variant ORCA-IN 18 43920538 43920538 single base substitution G A downstream_gene_variant ORCA-IN 18 43920538 43920538 single base substitution G A intron_variant ORCA-IN 18 43965810 43965810 single base substitution C T intron_variant ORCA-IN 18 43974209 43974209 single base substitution A G intron_variant ORCA-IN 18 43990645 43990645 single base substitution C A intron_variant ORCA-IN 18 44038271 44038271 single base substitution C G 3_prime_UTR_variant ORCA-IN 18 44038271 44038271 single base substitution C G downstream_gene_variant ORCA-IN 18 44044840 44044840 single base substitution G A downstream_gene_variant OV-AU 18 43901958 43901958 single base substitution C T upstream_gene_variant OV-AU 18 43902652 43902652 single base substitution A T upstream_gene_variant OV-AU 18 43913891 43913891 single base substitution A C intron_variant OV-AU 18 43913891 43913891 single base substitution A C upstream_gene_variant OV-AU 18 43918866 43918866 single base substitution T G downstream_gene_variant OV-AU 18 43918866 43918866 single base substitution T G intron_variant OV-AU 18 43926341 43926341 single base substitution C G intron_variant OV-AU 18 43934467 43934467 single base substitution C T intron_variant OV-AU 18 43935192 43935192 single base substitution A T intron_variant OV-AU 18 43937654 43937654 single base substitution A T intron_variant OV-AU 18 43945767 43945767 single base substitution C T intron_variant OV-AU 18 43946643 43946643 single base substitution T C intron_variant OV-AU 18 43950838 43950838 single base substitution T C intron_variant OV-AU 18 43953441 43953441 single base substitution C T intron_variant OV-AU 18 43953794 43953794 single base substitution G A intron_variant OV-AU 18 43966880 43966880 single base substitution G T intron_variant OV-AU 18 43972083 43972083 single base substitution G A intron_variant OV-AU 18 43972324 43972324 single base substitution G C intron_variant OV-AU 18 43973452 43973452 single base substitution T C intron_variant OV-AU 18 43986289 43986289 single base substitution G A intron_variant OV-AU 18 43993305 43993305 single base substitution C T intron_variant OV-AU 18 43995089 43995089 single base substitution G T intron_variant OV-AU 18 43996447 43996447 single base substitution T A intron_variant OV-AU 18 44001275 44001275 single base substitution C T intron_variant OV-AU 18 44009965 44009965 single base substitution G A intron_variant OV-AU 18 44023076 44023076 single base substitution C A intron_variant OV-AU 18 44023076 44023076 single base substitution C A upstream_gene_variant OV-AU 18 44032168 44032168 single base substitution A G downstream_gene_variant OV-AU 18 44032168 44032168 single base substitution A G intron_variant OV-AU 18 44034898 44034898 single base substitution A G downstream_gene_variant OV-AU 18 44034898 44034898 single base substitution A G intron_variant OV-AU 18 44038292 44038292 single base substitution C T 3_prime_UTR_variant OV-AU 18 44038292 44038292 single base substitution C T downstream_gene_variant OV-AU 18 44040898 44040898 single base substitution C T 3_prime_UTR_variant OV-AU 18 44040898 44040898 single base substitution C T downstream_gene_variant OV-AU 18 44043754 44043754 single base substitution C T downstream_gene_variant OV-AU 18 44046694 44046694 single base substitution G T downstream_gene_variant OV-AU 18 44046798 44046798 single base substitution A G downstream_gene_variant OV-AU 18 44047008 44047008 single base substitution A T downstream_gene_variant PACA-AU 18 43911312 43911312 single base substitution G A intron_variant PACA-AU 18 43911312 43911312 single base substitution G A upstream_gene_variant PACA-AU 18 43917673 43917673 single base substitution T A downstream_gene_variant PACA-AU 18 43917673 43917673 single base substitution T A intron_variant PACA-AU 18 43925283 43925283 single base substitution G A intron_variant PACA-AU 18 43927891 43927891 single base substitution C A intron_variant PACA-AU 18 43931114 43931114 single base substitution C A intron_variant PACA-AU 18 43936712 43936712 single base substitution G A intron_variant PACA-AU 18 43942532 43942532 single base substitution G A intron_variant PACA-AU 18 43945982 43945982 single base substitution G A intron_variant PACA-AU 18 43946680 43946680 single base substitution C T intron_variant PACA-AU 18 43948078 43948078 single base substitution A C intron_variant PACA-AU 18 43948080 43948080 single base substitution A T intron_variant PACA-AU 18 43956423 43956423 single base substitution G T intron_variant PACA-AU 18 43960834 43960834 single base substitution G A intron_variant PACA-AU 18 43963540 43963540 single base substitution C T intron_variant PACA-AU 18 43963708 43963708 single base substitution G A intron_variant PACA-AU 18 43964134 43964134 single base substitution G A intron_variant PACA-AU 18 43967245 43967245 single base substitution A G intron_variant PACA-AU 18 43969547 43969547 single base substitution C T intron_variant PACA-AU 18 43977645 43977645 single base substitution G A intron_variant PACA-AU 18 43983191 43983191 single base substitution C A intron_variant PACA-AU 18 43983192 43983192 single base substitution C G intron_variant PACA-AU 18 43986160 43986160 single base substitution G A intron_variant PACA-AU 18 43987265 43987265 single base substitution C T intron_variant PACA-AU 18 43996031 43996031 single base substitution G C intron_variant PACA-AU 18 44000583 44000583 single base substitution G A intron_variant PACA-AU 18 44004611 44004611 single base substitution G T intron_variant PACA-AU 18 44004978 44004978 single base substitution T C intron_variant PACA-AU 18 44006317 44006317 single base substitution G A intron_variant PACA-AU 18 44013117 44013117 single base substitution G T intron_variant PACA-AU 18 44015685 44015685 single base substitution G A intron_variant PACA-AU 18 44016175 44016175 deletion of <=200bp A - intron_variant PACA-AU 18 44019854 44019854 single base substitution C T intron_variant PACA-AU 18 44032724 44032724 single base substitution G A downstream_gene_variant PACA-AU 18 44032724 44032724 single base substitution G A intron_variant PACA-AU 18 44034493 44034493 single base substitution G A downstream_gene_variant PACA-AU 18 44034493 44034493 single base substitution G A intron_variant PACA-AU 18 44036762 44036762 single base substitution G C 3_prime_UTR_variant PACA-AU 18 44036762 44036762 single base substitution G C downstream_gene_variant PACA-AU 18 44037274 44037274 single base substitution G A 3_prime_UTR_variant PACA-AU 18 44037274 44037274 single base substitution G A downstream_gene_variant PACA-AU 18 44038364 44038364 single base substitution T C 3_prime_UTR_variant PACA-AU 18 44038364 44038364 single base substitution T C downstream_gene_variant PACA-AU 18 44040730 44040730 single base substitution C T 3_prime_UTR_variant PACA-AU 18 44040730 44040730 single base substitution C T downstream_gene_variant PACA-AU 18 44041802 44041802 single base substitution G A 3_prime_UTR_variant PACA-AU 18 44041802 44041802 single base substitution G A downstream_gene_variant PACA-CA 18 43903770 43903770 single base substitution G T upstream_gene_variant PACA-CA 18 43906378 43906378 single base substitution G A upstream_gene_variant PACA-CA 18 43909590 43909590 single base substitution G A intron_variant PACA-CA 18 43909590 43909590 single base substitution G A upstream_gene_variant PACA-CA 18 43909737 43909737 single base substitution C G intron_variant PACA-CA 18 43909737 43909737 single base substitution C G upstream_gene_variant PACA-CA 18 43912328 43912328 single base substitution G T intron_variant PACA-CA 18 43912328 43912328 single base substitution G T upstream_gene_variant PACA-CA 18 43913580 43913580 single base substitution G A intron_variant PACA-CA 18 43913580 43913580 single base substitution G A upstream_gene_variant PACA-CA 18 43916337 43916337 deletion of <=200bp C - 3_prime_UTR_variant PACA-CA 18 43916337 43916337 deletion of <=200bp C - intron_variant PACA-CA 18 43920480 43920480 single base substitution G T downstream_gene_variant PACA-CA 18 43920480 43920480 single base substitution G T intron_variant PACA-CA 18 43922776 43922776 insertion of <=200bp - A intron_variant PACA-CA 18 43923653 43923653 single base substitution T G intron_variant PACA-CA 18 43925343 43925343 single base substitution T C intron_variant PACA-CA 18 43928667 43928667 single base substitution A T intron_variant PACA-CA 18 43928874 43928874 single base substitution T C intron_variant PACA-CA 18 43930344 43930344 single base substitution A T intron_variant PACA-CA 18 43930593 43930593 single base substitution G A intron_variant PACA-CA 18 43931458 43931458 single base substitution G T intron_variant PACA-CA 18 43937685 43937685 single base substitution C T intron_variant PACA-CA 18 43940731 43940731 single base substitution G A intron_variant PACA-CA 18 43941870 43941870 single base substitution C A intron_variant PACA-CA 18 43941892 43941892 single base substitution G A intron_variant PACA-CA 18 43942487 43942487 single base substitution C T intron_variant PACA-CA 18 43943571 43943571 single base substitution C T intron_variant PACA-CA 18 43946370 43946370 single base substitution C T intron_variant PACA-CA 18 43951705 43951705 single base substitution A C intron_variant PACA-CA 18 43961101 43961101 single base substitution C T intron_variant PACA-CA 18 43962406 43962406 single base substitution C A intron_variant PACA-CA 18 43963149 43963149 single base substitution G A intron_variant PACA-CA 18 43967432 43967432 single base substitution C A intron_variant PACA-CA 18 43968442 43968442 single base substitution C T intron_variant PACA-CA 18 43971241 43971241 single base substitution C A intron_variant PACA-CA 18 43972417 43972417 single base substitution G A intron_variant PACA-CA 18 43979267 43979267 single base substitution G A intron_variant PACA-CA 18 43980020 43980020 single base substitution C T intron_variant PACA-CA 18 43984733 43984734 deletion of <=200bp AC - intron_variant PACA-CA 18 43985536 43985536 single base substitution C T intron_variant PACA-CA 18 43987087 43987087 single base substitution C T intron_variant PACA-CA 18 43990827 43990827 single base substitution C T intron_variant PACA-CA 18 43993226 43993226 single base substitution G A intron_variant PACA-CA 18 43997881 43997881 single base substitution C T intron_variant PACA-CA 18 43997890 43997890 single base substitution C A intron_variant PACA-CA 18 43998797 43998797 single base substitution C T intron_variant PACA-CA 18 43999059 43999059 single base substitution A G intron_variant PACA-CA 18 43999602 43999602 single base substitution G A intron_variant PACA-CA 18 44002113 44002113 single base substitution G A intron_variant PACA-CA 18 44002119 44002119 single base substitution T G intron_variant PACA-CA 18 44003049 44003049 single base substitution C T intron_variant PACA-CA 18 44003701 44003701 single base substitution C T intron_variant PACA-CA 18 44003758 44003758 single base substitution A T intron_variant PACA-CA 18 44007948 44007948 single base substitution G A intron_variant PACA-CA 18 44008679 44008679 single base substitution A G intron_variant PACA-CA 18 44009930 44009930 single base substitution C A intron_variant PACA-CA 18 44013027 44013027 single base substitution C T intron_variant PACA-CA 18 44017146 44017146 single base substitution G A intron_variant PACA-CA 18 44028245 44028245 single base substitution C A intron_variant PACA-CA 18 44028458 44028458 single base substitution G A intron_variant PACA-CA 18 44029694 44029694 single base substitution T C intron_variant PACA-CA 18 44029765 44029765 deletion of <=200bp T - intron_variant PACA-CA 18 44031345 44031345 single base substitution A T downstream_gene_variant PACA-CA 18 44031345 44031345 single base substitution A T intron_variant PACA-CA 18 44032032 44032032 single base substitution G A downstream_gene_variant PACA-CA 18 44032032 44032032 single base substitution G A intron_variant PACA-CA 18 44034858 44034858 single base substitution A T downstream_gene_variant PACA-CA 18 44034858 44034858 single base substitution A T intron_variant PACA-CA 18 44035734 44035734 single base substitution G A intron_variant PACA-CA 18 44036452 44036452 single base substitution G A downstream_gene_variant PACA-CA 18 44036452 44036452 single base substitution G A intron_variant PACA-CA 18 44037277 44037277 insertion of <=200bp - G 3_prime_UTR_variant PACA-CA 18 44037277 44037277 insertion of <=200bp - G downstream_gene_variant PACA-CA 18 44037483 44037483 single base substitution C T 3_prime_UTR_variant PACA-CA 18 44037483 44037483 single base substitution C T downstream_gene_variant PACA-CA 18 44037898 44037898 single base substitution C A 3_prime_UTR_variant PACA-CA 18 44037898 44037898 single base substitution C A downstream_gene_variant PACA-CA 18 44040407 44040407 single base substitution C A 3_prime_UTR_variant PACA-CA 18 44040407 44040407 single base substitution C A downstream_gene_variant PACA-CA 18 44044980 44044980 single base substitution T G downstream_gene_variant PAEN-AU 18 43927567 43927567 single base substitution G A intron_variant PAEN-AU 18 43939816 43939816 single base substitution A T intron_variant PAEN-AU 18 44002565 44002565 single base substitution C T intron_variant PAEN-AU 18 44028071 44028071 single base substitution G A intron_variant PAEN-IT 18 43934479 43934479 single base substitution G T intron_variant PAEN-IT 18 43978761 43978761 single base substitution G A intron_variant PAEN-IT 18 43993481 43993481 single base substitution G T intron_variant PAEN-IT 18 44037028 44037028 single base substitution T A 3_prime_UTR_variant PAEN-IT 18 44037028 44037028 single base substitution T A downstream_gene_variant PAEN-IT 18 44041144 44041144 single base substitution G A 3_prime_UTR_variant PAEN-IT 18 44041144 44041144 single base substitution G A downstream_gene_variant PBCA-DE 18 43902761 43902761 single base substitution C T upstream_gene_variant PBCA-DE 18 43902918 43902918 single base substitution T A upstream_gene_variant PBCA-DE 18 43908003 43908006 deletion of <=200bp GCTC - intron_variant PBCA-DE 18 43908003 43908007 deletion of <=200bp GCTCA - intron_variant PBCA-DE 18 43908008 43908008 deletion of <=200bp C - intron_variant PBCA-DE 18 43915009 43915010 deletion of <=200bp GT - 3_prime_UTR_variant PBCA-DE 18 43915009 43915010 deletion of <=200bp GT - intron_variant PBCA-DE 18 43924244 43924244 single base substitution G A intron_variant PBCA-DE 18 43924329 43924329 single base substitution G C intron_variant PBCA-DE 18 43937257 43937257 single base substitution G A intron_variant PBCA-DE 18 43951316 43951316 single base substitution G A intron_variant PBCA-DE 18 43953908 43953908 single base substitution G A intron_variant PBCA-DE 18 43966067 43966067 single base substitution G T intron_variant PBCA-DE 18 43967603 43967603 single base substitution A G intron_variant PBCA-DE 18 43973486 43973486 single base substitution C T intron_variant PBCA-DE 18 43974662 43974662 single base substitution C A intron_variant PBCA-DE 18 43978209 43978209 single base substitution C T intron_variant PBCA-DE 18 43984192 43984192 single base substitution T A intron_variant PBCA-DE 18 44005881 44005881 single base substitution G C intron_variant PBCA-DE 18 44007437 44007437 single base substitution G T intron_variant PBCA-DE 18 44016240 44016241 deletion of <=200bp TG - intron_variant PBCA-DE 18 44020237 44020238 deletion of <=200bp GA - intron_variant PBCA-DE 18 44024430 44024430 deletion of <=200bp G - intron_variant PBCA-DE 18 44024430 44024430 deletion of <=200bp G - upstream_gene_variant PBCA-DE 18 44034572 44034572 single base substitution G A downstream_gene_variant PBCA-DE 18 44034572 44034572 single base substitution G A intron_variant PBCA-DE 18 44037278 44037278 deletion of <=200bp G - 3_prime_UTR_variant PBCA-DE 18 44037278 44037278 deletion of <=200bp G - downstream_gene_variant PRAD-CA 18 43906491 43906491 single base substitution G T upstream_gene_variant PRAD-CA 18 43908604 43908604 single base substitution A G intron_variant PRAD-CA 18 43951625 43951625 single base substitution T C intron_variant PRAD-CA 18 43977744 43977744 single base substitution A G intron_variant PRAD-CA 18 43997293 43997293 single base substitution C A intron_variant PRAD-UK 18 43922690 43922690 single base substitution T C intron_variant PRAD-UK 18 43925369 43925369 single base substitution T C intron_variant PRAD-UK 18 43931335 43931335 single base substitution A C intron_variant PRAD-UK 18 43940567 43940567 single base substitution A G intron_variant PRAD-UK 18 43998676 43998676 deletion of <=200bp G - intron_variant PRAD-UK 18 44010862 44010862 single base substitution G T intron_variant PRAD-UK 18 44028079 44028079 single base substitution T G intron_variant PRAD-UK 18 44028326 44028326 single base substitution T C intron_variant PRAD-UK 18 44040730 44040730 single base substitution C T 3_prime_UTR_variant PRAD-UK 18 44040730 44040730 single base substitution C T downstream_gene_variant READ-US 18 44036006 44036006 single base substitution A C 3_prime_UTR_variant READ-US 18 44036006 44036006 single base substitution A C exon_variant READ-US 18 44036006 44036006 single base substitution A C missense_variant I104L 310A>C READ-US 18 44036006 44036006 single base substitution A C missense_variant I296L 886A>C RECA-EU 18 43909380 43909380 single base substitution C A intron_variant RECA-EU 18 43909380 43909380 single base substitution C A upstream_gene_variant RECA-EU 18 43913322 43913322 single base substitution G A intron_variant RECA-EU 18 43913322 43913322 single base substitution G A upstream_gene_variant RECA-EU 18 43930436 43930436 single base substitution C T intron_variant RECA-EU 18 43937411 43937411 single base substitution G A intron_variant RECA-EU 18 43938119 43938119 single base substitution T A intron_variant RECA-EU 18 43949084 43949084 single base substitution T A intron_variant RECA-EU 18 43950478 43950478 single base substitution C T intron_variant RECA-EU 18 43956975 43956975 single base substitution A T intron_variant RECA-EU 18 43961334 43961334 single base substitution C G intron_variant RECA-EU 18 43963936 43963936 single base substitution C T intron_variant RECA-EU 18 43966370 43966370 single base substitution G A intron_variant RECA-EU 18 43966700 43966700 single base substitution T C intron_variant RECA-EU 18 43968133 43968133 single base substitution T A intron_variant RECA-EU 18 43968135 43968135 single base substitution A T intron_variant RECA-EU 18 43977443 43977443 single base substitution A G intron_variant RECA-EU 18 43978045 43978045 single base substitution G C intron_variant RECA-EU 18 43981762 43981762 single base substitution G A intron_variant RECA-EU 18 43995441 43995441 single base substitution A G intron_variant RECA-EU 18 43997257 43997257 single base substitution C T intron_variant RECA-EU 18 44004429 44004429 single base substitution T C intron_variant RECA-EU 18 44006212 44006212 single base substitution A C intron_variant RECA-EU 18 44017364 44017364 single base substitution T G intron_variant RECA-EU 18 44020307 44020307 single base substitution A T intron_variant RECA-EU 18 44022301 44022301 single base substitution T G intron_variant RECA-EU 18 44028143 44028143 single base substitution C T intron_variant RECA-EU 18 44029118 44029118 single base substitution A T intron_variant RECA-EU 18 44031437 44031437 single base substitution C G downstream_gene_variant RECA-EU 18 44031437 44031437 single base substitution C G intron_variant SKCA-BR 18 43902620 43902620 single base substitution C T upstream_gene_variant SKCA-BR 18 43902735 43902735 single base substitution G A upstream_gene_variant SKCA-BR 18 43903259 43903259 single base substitution T C upstream_gene_variant SKCA-BR 18 43903617 43903617 single base substitution A C upstream_gene_variant SKCA-BR 18 43904504 43904504 single base substitution A G upstream_gene_variant SKCA-BR 18 43907467 43907467 single base substitution C T intron_variant SKCA-BR 18 43907991 43907991 single base substitution G A intron_variant SKCA-BR 18 43909430 43909430 single base substitution C T intron_variant SKCA-BR 18 43909430 43909430 single base substitution C T upstream_gene_variant SKCA-BR 18 43910104 43910104 single base substitution C T intron_variant SKCA-BR 18 43910104 43910104 single base substitution C T upstream_gene_variant SKCA-BR 18 43910139 43910139 single base substitution A C intron_variant SKCA-BR 18 43910139 43910139 single base substitution A C upstream_gene_variant SKCA-BR 18 43910577 43910577 single base substitution G A intron_variant SKCA-BR 18 43910577 43910577 single base substitution G A upstream_gene_variant SKCA-BR 18 43911865 43911865 single base substitution G A intron_variant SKCA-BR 18 43911865 43911865 single base substitution G A upstream_gene_variant SKCA-BR 18 43912742 43912742 single base substitution G A intron_variant SKCA-BR 18 43912742 43912742 single base substitution G A upstream_gene_variant SKCA-BR 18 43914672 43914680 deletion of <=200bp TGTGTGTGA - 3_prime_UTR_variant SKCA-BR 18 43914672 43914680 deletion of <=200bp TGTGTGTGA - intron_variant SKCA-BR 18 43917286 43917286 single base substitution G A 3_prime_UTR_variant SKCA-BR 18 43917286 43917286 single base substitution G A downstream_gene_variant SKCA-BR 18 43917286 43917286 single base substitution G A intron_variant SKCA-BR 18 43917886 43917886 single base substitution A C downstream_gene_variant SKCA-BR 18 43917886 43917886 single base substitution A C intron_variant SKCA-BR 18 43918874 43918874 single base substitution T C downstream_gene_variant SKCA-BR 18 43918874 43918874 single base substitution T C intron_variant SKCA-BR 18 43919106 43919106 single base substitution G A downstream_gene_variant SKCA-BR 18 43919106 43919106 single base substitution G A intron_variant SKCA-BR 18 43921299 43921299 single base substitution G T downstream_gene_variant SKCA-BR 18 43921299 43921299 single base substitution G T intron_variant SKCA-BR 18 43922361 43922361 single base substitution G A downstream_gene_variant SKCA-BR 18 43922361 43922361 single base substitution G A intron_variant SKCA-BR 18 43922645 43922645 single base substitution C T intron_variant SKCA-BR 18 43923378 43923378 single base substitution G T intron_variant SKCA-BR 18 43924524 43924524 single base substitution C T intron_variant SKCA-BR 18 43927531 43927531 single base substitution C T intron_variant SKCA-BR 18 43928878 43928878 single base substitution T C intron_variant SKCA-BR 18 43929568 43929568 single base substitution G A intron_variant SKCA-BR 18 43929569 43929569 single base substitution G A intron_variant SKCA-BR 18 43930475 43930475 single base substitution A G intron_variant SKCA-BR 18 43931300 43931300 single base substitution G A intron_variant SKCA-BR 18 43931301 43931301 single base substitution G A intron_variant SKCA-BR 18 43931942 43931942 single base substitution G T intron_variant SKCA-BR 18 43934475 43934475 single base substitution G A intron_variant SKCA-BR 18 43935081 43935081 single base substitution T A intron_variant SKCA-BR 18 43935374 43935374 single base substitution C G intron_variant SKCA-BR 18 43938659 43938659 single base substitution C T intron_variant SKCA-BR 18 43940199 43940199 single base substitution C T intron_variant SKCA-BR 18 43940447 43940447 single base substitution T A intron_variant SKCA-BR 18 43940619 43940619 single base substitution C T intron_variant SKCA-BR 18 43940620 43940620 single base substitution C T intron_variant SKCA-BR 18 43942378 43942378 single base substitution G A intron_variant SKCA-BR 18 43943711 43943711 single base substitution C T intron_variant SKCA-BR 18 43945034 43945034 single base substitution C T intron_variant SKCA-BR 18 43945043 43945043 single base substitution C T intron_variant SKCA-BR 18 43945255 43945255 single base substitution C T intron_variant SKCA-BR 18 43946323 43946323 single base substitution C T intron_variant SKCA-BR 18 43946464 43946464 single base substitution C T intron_variant SKCA-BR 18 43948378 43948378 single base substitution C T intron_variant SKCA-BR 18 43950051 43950051 single base substitution C T intron_variant SKCA-BR 18 43950782 43950782 single base substitution C T intron_variant SKCA-BR 18 43951584 43951584 single base substitution G A intron_variant SKCA-BR 18 43951777 43951777 single base substitution T G intron_variant SKCA-BR 18 43952193 43952193 single base substitution C T intron_variant SKCA-BR 18 43952308 43952308 single base substitution C T intron_variant SKCA-BR 18 43959219 43959219 single base substitution C T intron_variant SKCA-BR 18 43963673 43963673 single base substitution G C intron_variant SKCA-BR 18 43964177 43964177 single base substitution C T intron_variant SKCA-BR 18 43965002 43965002 single base substitution G A intron_variant SKCA-BR 18 43965574 43965574 single base substitution C T intron_variant SKCA-BR 18 43965895 43965895 single base substitution T A intron_variant SKCA-BR 18 43966914 43966914 single base substitution A G intron_variant SKCA-BR 18 43969019 43969019 single base substitution G A intron_variant SKCA-BR 18 43969697 43969697 single base substitution C T intron_variant SKCA-BR 18 43969698 43969698 single base substitution C T intron_variant SKCA-BR 18 43970870 43970870 single base substitution G A intron_variant SKCA-BR 18 43973035 43973035 single base substitution A G intron_variant SKCA-BR 18 43974818 43974818 single base substitution G C intron_variant SKCA-BR 18 43975871 43975871 single base substitution G A intron_variant SKCA-BR 18 43977974 43977974 single base substitution A G intron_variant SKCA-BR 18 43980441 43980441 single base substitution C T intron_variant SKCA-BR 18 43980955 43980955 single base substitution C T intron_variant SKCA-BR 18 43983039 43983039 single base substitution C T intron_variant SKCA-BR 18 43983086 43983086 single base substitution C T intron_variant SKCA-BR 18 43983625 43983625 single base substitution G T intron_variant SKCA-BR 18 43984365 43984365 single base substitution C T intron_variant SKCA-BR 18 43984738 43984738 single base substitution C T intron_variant SKCA-BR 18 43985503 43985503 single base substitution T G intron_variant SKCA-BR 18 43986023 43986023 single base substitution C T intron_variant SKCA-BR 18 43986362 43986362 single base substitution G A intron_variant SKCA-BR 18 43989855 43989855 single base substitution A C intron_variant SKCA-BR 18 43991111 43991111 single base substitution A G intron_variant SKCA-BR 18 43991821 43991821 single base substitution C T intron_variant SKCA-BR 18 43991872 43991872 single base substitution G A intron_variant SKCA-BR 18 43993035 43993035 single base substitution C T intron_variant SKCA-BR 18 43993442 43993442 single base substitution G A intron_variant SKCA-BR 18 43995098 43995098 single base substitution C T intron_variant SKCA-BR 18 43995438 43995438 single base substitution G A intron_variant SKCA-BR 18 43997330 43997330 single base substitution C T intron_variant SKCA-BR 18 43997594 43997594 single base substitution C T intron_variant SKCA-BR 18 43997684 43997684 single base substitution G A intron_variant SKCA-BR 18 43999560 43999560 single base substitution G A intron_variant SKCA-BR 18 44000115 44000115 single base substitution A C intron_variant SKCA-BR 18 44000238 44000238 single base substitution G T intron_variant SKCA-BR 18 44002689 44002689 single base substitution C T intron_variant SKCA-BR 18 44002837 44002837 single base substitution C T intron_variant SKCA-BR 18 44003119 44003119 single base substitution C G intron_variant SKCA-BR 18 44003886 44003886 single base substitution C T intron_variant SKCA-BR 18 44004271 44004271 single base substitution T G intron_variant SKCA-BR 18 44005443 44005443 single base substitution C T intron_variant SKCA-BR 18 44005656 44005656 single base substitution C T intron_variant SKCA-BR 18 44005738 44005738 single base substitution C T intron_variant SKCA-BR 18 44006168 44006168 single base substitution C T intron_variant SKCA-BR 18 44006504 44006504 single base substitution C T intron_variant SKCA-BR 18 44006868 44006868 single base substitution T G intron_variant SKCA-BR 18 44007630 44007630 single base substitution C T intron_variant SKCA-BR 18 44009937 44009937 single base substitution C T intron_variant SKCA-BR 18 44011020 44011020 single base substitution G A intron_variant SKCA-BR 18 44015238 44015238 single base substitution C T intron_variant SKCA-BR 18 44015255 44015255 single base substitution G A intron_variant SKCA-BR 18 44015255 44015255 single base substitution G A synonymous_variant R127R 381G>A SKCA-BR 18 44015255 44015255 single base substitution G A synonymous_variant R60R 180G>A SKCA-BR 18 44016684 44016684 single base substitution A G intron_variant SKCA-BR 18 44017773 44017773 single base substitution C T intron_variant SKCA-BR 18 44018501 44018501 single base substitution C T intron_variant SKCA-BR 18 44019191 44019191 single base substitution G A intron_variant SKCA-BR 18 44019300 44019300 single base substitution G A intron_variant SKCA-BR 18 44019463 44019463 single base substitution C T intron_variant SKCA-BR 18 44019465 44019465 single base substitution C T intron_variant SKCA-BR 18 44020022 44020022 single base substitution A C intron_variant SKCA-BR 18 44020170 44020170 single base substitution C T intron_variant SKCA-BR 18 44020180 44020180 single base substitution G A intron_variant SKCA-BR 18 44021824 44021833 deletion of <=200bp CAAAAAAAAA - intron_variant SKCA-BR 18 44024272 44024272 single base substitution G A intron_variant SKCA-BR 18 44024272 44024272 single base substitution G A upstream_gene_variant SKCA-BR 18 44024522 44024522 single base substitution G A intron_variant SKCA-BR 18 44024522 44024522 single base substitution G A upstream_gene_variant SKCA-BR 18 44024535 44024535 single base substitution C T intron_variant SKCA-BR 18 44024535 44024535 single base substitution C T upstream_gene_variant SKCA-BR 18 44026664 44026664 single base substitution G A intron_variant SKCA-BR 18 44026664 44026664 single base substitution G A upstream_gene_variant SKCA-BR 18 44027071 44027071 single base substitution G A intron_variant SKCA-BR 18 44027071 44027071 single base substitution G A upstream_gene_variant SKCA-BR 18 44027834 44027834 single base substitution C T intron_variant SKCA-BR 18 44028340 44028340 single base substitution G A intron_variant SKCA-BR 18 44028499 44028499 single base substitution C T intron_variant SKCA-BR 18 44031199 44031199 single base substitution C A downstream_gene_variant SKCA-BR 18 44031199 44031199 single base substitution C A intron_variant SKCA-BR 18 44033483 44033483 single base substitution T A downstream_gene_variant SKCA-BR 18 44033483 44033483 single base substitution T A intron_variant SKCA-BR 18 44034208 44034208 single base substitution T G downstream_gene_variant SKCA-BR 18 44034208 44034208 single base substitution T G intron_variant SKCA-BR 18 44035078 44035078 single base substitution G A downstream_gene_variant SKCA-BR 18 44035078 44035078 single base substitution G A intron_variant SKCA-BR 18 44035367 44035367 single base substitution C T intron_variant SKCA-BR 18 44036126 44036126 single base substitution G A downstream_gene_variant SKCA-BR 18 44036126 44036126 single base substitution G A intron_variant SKCA-BR 18 44036810 44036810 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 44036810 44036810 single base substitution C T downstream_gene_variant SKCA-BR 18 44038249 44038249 single base substitution G A 3_prime_UTR_variant SKCA-BR 18 44038249 44038249 single base substitution G A downstream_gene_variant SKCA-BR 18 44038533 44038533 single base substitution G A 3_prime_UTR_variant SKCA-BR 18 44038533 44038533 single base substitution G A downstream_gene_variant SKCA-BR 18 44038557 44038557 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 44038557 44038557 single base substitution C T downstream_gene_variant SKCA-BR 18 44039281 44039281 single base substitution G A 3_prime_UTR_variant SKCA-BR 18 44039281 44039281 single base substitution G A downstream_gene_variant SKCA-BR 18 44040874 44040874 single base substitution G C 3_prime_UTR_variant SKCA-BR 18 44040874 44040874 single base substitution G C downstream_gene_variant SKCA-BR 18 44041880 44041880 single base substitution G A 3_prime_UTR_variant SKCA-BR 18 44041880 44041880 single base substitution G A downstream_gene_variant SKCA-BR 18 44042309 44042309 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 44042309 44042309 single base substitution C T downstream_gene_variant SKCA-BR 18 44045268 44045268 single base substitution A G downstream_gene_variant SKCA-BR 18 44047457 44047457 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 18 44047691 44047691 single base substitution C T downstream_gene_variant SKCA-BR 18 44047914 44047914 single base substitution C T downstream_gene_variant SKCM-US 18 44013158 44013158 single base substitution C T 5_prime_UTR_variant SKCM-US 18 44013158 44013158 single base substitution C T intron_variant SKCM-US 18 44013158 44013158 single base substitution C T missense_variant P23S 67C>T SKCM-US 18 44013175 44013175 single base substitution G A 5_prime_UTR_variant SKCM-US 18 44013175 44013175 single base substitution G A intron_variant SKCM-US 18 44013175 44013175 single base substitution G A synonymous_variant Q28Q 84G>A SKCM-US 18 44013205 44013205 single base substitution C T 5_prime_UTR_variant SKCM-US 18 44013205 44013205 single base substitution C T intron_variant SKCM-US 18 44013205 44013205 single base substitution C T synonymous_variant F38F 114C>T SKCM-US 18 44013247 44013247 single base substitution C T 5_prime_UTR_variant SKCM-US 18 44013247 44013247 single base substitution C T intron_variant SKCM-US 18 44013247 44013247 single base substitution C T synonymous_variant F52F 156C>T SKCM-US 18 44013377 44013377 single base substitution C T intron_variant SKCM-US 18 44013377 44013377 single base substitution C T missense_variant P29S 85C>T SKCM-US 18 44013377 44013377 single base substitution C T missense_variant P96S 286C>T SKCM-US 18 44013385 44013385 single base substitution C T intron_variant SKCM-US 18 44013385 44013385 single base substitution C T synonymous_variant F31F 93C>T SKCM-US 18 44013385 44013385 single base substitution C T synonymous_variant F98F 294C>T SKCM-US 18 44013470 44013470 single base substitution T G intron_variant SKCM-US 18 44013470 44013470 single base substitution T G splice_donor_variant SKCM-US 18 44015303 44015303 single base substitution C T intron_variant SKCM-US 18 44015303 44015303 single base substitution C T synonymous_variant F143F 429C>T SKCM-US 18 44015303 44015303 single base substitution C T synonymous_variant F76F 228C>T SKCM-US 18 44015333 44015333 single base substitution C A intron_variant SKCM-US 18 44015333 44015333 single base substitution C A synonymous_variant P153P 459C>A SKCM-US 18 44015333 44015333 single base substitution C A synonymous_variant P86P 258C>A SKCM-US 18 44027629 44027629 single base substitution C T 3_prime_UTR_variant SKCM-US 18 44027629 44027629 single base substitution C T exon_variant SKCM-US 18 44027629 44027629 single base substitution C T missense_variant P130S 388C>T SKCM-US 18 44027629 44027629 single base substitution C T missense_variant P197S 589C>T SKCM-US 18 44027629 44027629 single base substitution C T missense_variant P5S 13C>T SKCM-US 18 44030261 44030261 single base substitution C G splice_region_variant SKCM-US 18 44030264 44030264 single base substitution C T 3_prime_UTR_variant SKCM-US 18 44030264 44030264 single base substitution C T exon_variant SKCM-US 18 44030264 44030264 single base substitution C T synonymous_variant V140V 420C>T SKCM-US 18 44030264 44030264 single base substitution C T synonymous_variant V15V 45C>T SKCM-US 18 44030264 44030264 single base substitution C T synonymous_variant V207V 621C>T SKCM-US 18 44030268 44030268 single base substitution G A 3_prime_UTR_variant SKCM-US 18 44030268 44030268 single base substitution G A exon_variant SKCM-US 18 44030268 44030268 single base substitution G A missense_variant E142K 424G>A SKCM-US 18 44030268 44030268 single base substitution G A missense_variant E17K 49G>A SKCM-US 18 44030268 44030268 single base substitution G A missense_variant E209K 625G>A SKCM-US 18 44030274 44030274 single base substitution C T 3_prime_UTR_variant SKCM-US 18 44030274 44030274 single base substitution C T exon_variant SKCM-US 18 44030274 44030274 single base substitution C T stop_gained R144* 430C>T SKCM-US 18 44030274 44030274 single base substitution C T stop_gained R19* 55C>T SKCM-US 18 44030274 44030274 single base substitution C T stop_gained R211* 631C>T SKCM-US 18 44030289 44030289 single base substitution C T 3_prime_UTR_variant SKCM-US 18 44030289 44030289 single base substitution C T exon_variant SKCM-US 18 44030289 44030289 single base substitution C T missense_variant P149S 445C>T SKCM-US 18 44030289 44030289 single base substitution C T missense_variant P216S 646C>T SKCM-US 18 44030289 44030289 single base substitution C T missense_variant P24S 70C>T SKCM-US 18 44030298 44030298 single base substitution C T 3_prime_UTR_variant SKCM-US 18 44030298 44030298 single base substitution C T exon_variant SKCM-US 18 44030298 44030298 single base substitution C T missense_variant H152Y 454C>T SKCM-US 18 44030298 44030298 single base substitution C T missense_variant H219Y 655C>T SKCM-US 18 44030298 44030298 single base substitution C T missense_variant H27Y 79C>T SKCM-US 18 44030303 44030303 single base substitution C T 3_prime_UTR_variant SKCM-US 18 44030303 44030303 single base substitution C T exon_variant SKCM-US 18 44030303 44030303 single base substitution C T synonymous_variant F153F 459C>T SKCM-US 18 44030303 44030303 single base substitution C T synonymous_variant F220F 660C>T SKCM-US 18 44030303 44030303 single base substitution C T synonymous_variant F28F 84C>T SKCM-US 18 44030306 44030306 single base substitution T C 3_prime_UTR_variant SKCM-US 18 44030306 44030306 single base substitution T C exon_variant SKCM-US 18 44030306 44030306 single base substitution T C synonymous_variant L154L 462T>C SKCM-US 18 44030306 44030306 single base substitution T C synonymous_variant L221L 663T>C SKCM-US 18 44030306 44030306 single base substitution T C synonymous_variant L29L 87T>C SKCM-US 18 44030317 44030317 single base substitution G A 3_prime_UTR_variant SKCM-US 18 44030317 44030317 single base substitution G A downstream_gene_variant SKCM-US 18 44030317 44030317 single base substitution G A exon_variant SKCM-US 18 44030317 44030317 single base substitution G A missense_variant G225E 674G>A SKCM-US 18 44030317 44030317 single base substitution G A missense_variant G33E 98G>A SKCM-US 18 44030681 44030681 single base substitution C T 3_prime_UTR_variant SKCM-US 18 44030681 44030681 single base substitution C T downstream_gene_variant SKCM-US 18 44030681 44030681 single base substitution C T exon_variant SKCM-US 18 44030681 44030681 single base substitution C T synonymous_variant L245L 735C>T SKCM-US 18 44030681 44030681 single base substitution C T synonymous_variant L53L 159C>T STAD-US 18 44013214 44013214 deletion of <=200bp C - 5_prime_UTR_variant STAD-US 18 44013214 44013214 deletion of <=200bp C - frameshift_variant G41 STAD-US 18 44013214 44013214 deletion of <=200bp C - intron_variant STAD-US 18 44013236 44013236 single base substitution G A 5_prime_UTR_variant STAD-US 18 44013236 44013236 single base substitution G A intron_variant STAD-US 18 44013236 44013236 single base substitution G A missense_variant A49T 145G>A STAD-US 18 44013421 44013421 single base substitution G C intron_variant STAD-US 18 44013421 44013421 single base substitution G C missense_variant Q110H 330G>C STAD-US 18 44013421 44013421 single base substitution G C missense_variant Q43H 129G>C STAD-US 18 44015310 44015310 single base substitution G A intron_variant STAD-US 18 44015310 44015310 single base substitution G A missense_variant G146S 436G>A STAD-US 18 44015310 44015310 single base substitution G A missense_variant G79S 235G>A STAD-US 18 44036544 44036544 single base substitution A C 3_prime_UTR_variant STAD-US 18 44036544 44036544 single base substitution A C downstream_gene_variant STAD-US 18 44036544 44036544 single base substitution A C missense_variant K137T 410A>C STAD-US 18 44036544 44036544 single base substitution A C missense_variant K329T 986A>C THCA-SA 18 44038443 44038443 single base substitution A G 3_prime_UTR_variant THCA-SA 18 44038443 44038443 single base substitution A G downstream_gene_variant THCA-SA 18 44038557 44038557 single base substitution C T 3_prime_UTR_variant THCA-SA 18 44038557 44038557 single base substitution C T downstream_gene_variant THCA-SA 18 44040660 44040660 single base substitution T C 3_prime_UTR_variant THCA-SA 18 44040660 44040660 single base substitution T C downstream_gene_variant UCEC-US 18 43914289 43914289 single base substitution C T 5_prime_UTR_variant UCEC-US 18 43914289 43914289 single base substitution C T exon_variant UCEC-US 18 43914289 43914289 single base substitution C T intron_variant UCEC-US 18 43914289 43914289 single base substitution C T stop_gained R18* 52C>T UCEC-US 18 44013185 44013185 single base substitution G A 5_prime_UTR_variant UCEC-US 18 44013185 44013185 single base substitution G A intron_variant UCEC-US 18 44013185 44013185 single base substitution G A missense_variant A32T 94G>A UCEC-US 18 44013367 44013367 single base substitution C T intron_variant UCEC-US 18 44013367 44013367 single base substitution C T synonymous_variant D25D 75C>T UCEC-US 18 44013367 44013367 single base substitution C T synonymous_variant D92D 276C>T UCEC-US 18 44015316 44015316 single base substitution C G intron_variant UCEC-US 18 44015316 44015316 single base substitution C G missense_variant L148V 442C>G UCEC-US 18 44015316 44015316 single base substitution C G missense_variant L81V 241C>G UCEC-US 18 44027525 44027525 single base substitution G T exon_variant UCEC-US 18 44027525 44027525 single base substitution G T splice_acceptor_variant UCEC-US 18 44030343 44030343 single base substitution G A 3_prime_UTR_variant UCEC-US 18 44030343 44030343 single base substitution G A downstream_gene_variant UCEC-US 18 44030343 44030343 single base substitution G A exon_variant UCEC-US 18 44030343 44030343 single base substitution G A missense_variant A234T 700G>A UCEC-US 18 44030343 44030343 single base substitution G A missense_variant A42T 124G>A UCEC-US 18 44035937 44035937 single base substitution C T splice_region_variant UCEC-US 18 44035937 44035937 single base substitution C T stop_gained R273* 817C>T UCEC-US 18 44035937 44035937 single base substitution C T stop_gained R81* 241C>T UCEC-US 18 44036036 44036036 single base substitution G T 3_prime_UTR_variant UCEC-US 18 44036036 44036036 single base substitution G T downstream_gene_variant UCEC-US 18 44036036 44036036 single base substitution G T missense_variant D114Y 340G>T UCEC-US 18 44036036 44036036 single base substitution G T missense_variant D306Y 916G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ccRCC-76 COSM1665725 c.675delA p.L226fs*1 Deletion - Frameshift 18:46450355-46450355 + TCGA-BS-A0UF-01 COSM988496 c.486-1G>T p.? Unknown 18:46447562-46447562 + TCGA-HU-A4GQ-01 COSM2877797 c.436G>A p.G146S Substitution - Missense 18:46435347-46435347 + 2492729 COSM5726572 c.1019C>T p.T340I Substitution - Missense 18:46456614-46456614 + 01-P1216 COSM4580424 c.676C>T p.L226L Substitution - coding silent 18:46450356-46450356 + ESCC_11 COSM5624373 c.873T>G p.D291E Substitution - Missense 18:46456030-46456030 + TCGA-A6-5665-01 COSM1388799 c.995C>T p.P332L Substitution - Missense 18:46456590-46456590 + 19M COSM5579466 c.630C>T p.I210I Substitution - coding silent 18:46450310-46450310 + TCGA-GN-A266-06 COSM2877805 c.735C>T p.L245L Substitution - coding silent 18:46450718-46450718 + DLD1 COSM2877780 c.196G>A p.A66T Substitution - Missense 18:46433324-46433324 + TCGA-D9-A4Z3-01 COSM3525990 c.618C>G p.V206V Substitution - coding silent 18:46450298-46450298 + TCGA-D3-A2JF-06 COSM3525989 c.589C>T p.P197S Substitution - Missense 18:46447666-46447666 + PT48 COSM5933740 c.486-7C>T p.? Unknown 18:46447556-46447556 + YUCHIME COSM1711263 c.751A>G p.N251D Substitution - Missense 18:46450734-46450734 + SNUH_G40_S1 COSM4000406 c.404A>C p.H135P Substitution - Missense 18:46435315-46435315 + SW948 COSM2877806 c.760C>T p.R254W Substitution - Missense 18:46450743-46450743 + TCGA-AP-A051-01 COSM988493 c.94G>A p.A32T Substitution - Missense 18:46433222-46433222 + TCGA-ER-A194-01 COSM3525993 c.646C>T p.P216S Substitution - Missense 18:46450326-46450326 + TCGA-AZ-4615-01 COSM3692122 c.277G>A p.V93I Substitution - Missense 18:46433405-46433405 + TCGA-FW-A3R5-06 COSM3891064 c.67C>T p.P23S Substitution - Missense 18:46433195-46433195 + TCGA-D9-A4Z3-01 COSM3525991 c.621C>T p.V207V Substitution - coding silent 18:46450301-46450301 + TCGA-EB-A431-01 COSM3525985 c.114C>T p.F38F Substitution - coding silent 18:46433242-46433242 + LUAD_E00522 COSM352700 c.171C>A p.P57P Substitution - coding silent 18:46433299-46433299 + PD18022a COSM5770800 c.91C>T p.H31Y Substitution - Missense 18:46433219-46433219 + sysucc-1317T COSM5449128 c.927C>T p.R309R Substitution - coding silent 18:46456522-46456522 + CRC-01T COSM5468376 c.97A>C p.T33P Substitution - Missense 18:46433225-46433225 + TCGA-61-1733-01 COSM1324582 c.754G>A p.V252M Substitution - Missense 18:46450737-46450737 + CLL136 COSM1290833 c.430G>T p.D144Y Substitution - Missense 18:46435341-46435341 + Pat_15_B COSM5854206 c.1004G>A p.R335Q Substitution - Missense 18:46456599-46456599 + TCGA-B5-A11W-01 COSM988495 c.442C>G p.L148V Substitution - Missense 18:46435353-46435353 + TCGA-BS-A0UF-01 COSM988492 c.52C>T p.R18* Substitution - Nonsense 18:46334326-46334326 + EW8 COSM2877797 c.436G>A p.G146S Substitution - Missense 18:46435347-46435347 + TCGA-AA-3977-01 COSM5118499 c.627A>C p.E209D Substitution - Missense 18:46450307-46450307 + TCGA-FS-A1ZF-06 COSM3891065 c.377+2T>G p.? Unknown 18:46433507-46433507 + S02299 COSM5690373 c.422C>A p.P141H Substitution - Missense 18:46435333-46435333 + TCGA-C5-A1M8-01 COSM4837254 c.27C>T p.L9L Substitution - coding silent 18:46334301-46334301 + TCGA-BR-4362-01 COSM4072313 c.986A>C p.K329T Substitution - Missense 18:46456581-46456581 + TCGA-A6-6781-01 COSM5093839 c.1003C>T p.R335* Substitution - Nonsense 18:46456598-46456598 + MS2 COSM1165323 c.7C>T p.L3L Substitution - coding silent 18:46334281-46334281 + TCGA-GN-A26C-01 COSM3525989 c.589C>T p.P197S Substitution - Missense 18:46447666-46447666 + TCGA-AX-A0J0-01 COSM988498 c.817C>T p.R273* Substitution - Nonsense 18:46455974-46455974 + HCT8 COSM2877780 c.196G>A p.A66T Substitution - Missense 18:46433324-46433324 + YUKAT COSM5388140 c.993C>T p.C331C Substitution - coding silent 18:46456588-46456588 + HCT15 COSM2877780 c.196G>A p.A66T Substitution - Missense 18:46433324-46433324 + J87_T COSM3959208 c.592A>T p.R198* Substitution - Nonsense 18:46447669-46447669 + Au10 COSM5598733 c.585C>T p.H195H Substitution - coding silent 18:46447662-46447662 + TCGA-D1-A15X-01 COSM988494 c.276C>T p.D92D Substitution - coding silent 18:46433404-46433404 + TCGA-GF-A6C8-06 COSM2877800 c.625G>A p.E209K Substitution - Missense 18:46450305-46450305 + YUHAMA COSM5388139 c.618C>T p.V206V Substitution - coding silent 18:46450298-46450298 + TCGA-AZ-4315-01 COSM1388796 c.430G>A p.D144N Substitution - Missense 18:46435341-46435341 + TCGA-AA-A010-01 COSM284620 c.976G>A p.A326T Substitution - Missense 18:46456571-46456571 + T578 COSM4722026 c.77G>T p.R26M Substitution - Missense 18:46433205-46433205 + SNU-C2B COSM2877786 c.232C>A p.L78M Substitution - Missense 18:46433360-46433360 + TCGA-AM-5821-01 COSM5134936 c.143T>G p.L48R Substitution - Missense 18:46433271-46433271 + TCGA-GV-A3QI-01 COSM1303749 c.853G>A p.G285R Substitution - Missense 18:46456010-46456010 + TCGA-D3-A3C1-06 COSM3525984 c.84G>A p.Q28Q Substitution - coding silent 18:46433212-46433212 + TCGA-D3-A3MV-06 COSM3525992 c.631C>T p.R211* Substitution - Nonsense 18:46450311-46450311 + 522_T COSM1388798 c.915A>C p.E305D Substitution - Missense 18:46456072-46456072 + DLD1 COSM4623774 c.947T>C p.F316S Substitution - Missense 18:46456542-46456542 + TCGA-EE-A29N-06 COSM3525995 c.663T>C p.L221L Substitution - coding silent 18:46450343-46450343 + Pat_26_A COSM5854205 c.818G>A p.R273Q Substitution - Missense 18:46455975-46455975 + TCGA-FJ-A3Z7-01 COSM3796425 c.698C>T p.S233F Substitution - Missense 18:46450378-46450378 + TCGA-18-3409-01 COSM709478 c.590C>T p.P197L Substitution - Missense 18:46447667-46447667 + CHC1744T COSM4792350 c.669C>G p.L223L Substitution - coding silent 18:46450349-46450349 + P147 COSM1737240 c.251C>T p.P84L Substitution - Missense 18:46433379-46433379 + HT115 COSM988497 c.700G>A p.A234T Substitution - Missense 18:46450380-46450380 + 587246 COSM1223929 c.968A>G p.Q323R Substitution - Missense 18:46456563-46456563 + TCGA-EB-A3Y7-01 COSM3525988 c.459C>A p.P153P Substitution - coding silent 18:46435370-46435370 + Pat_26_B COSM5854205 c.818G>A p.R273Q Substitution - Missense 18:46455975-46455975 + PD4844a COSM164046 c.807G>T p.K269N Substitution - Missense 18:46450790-46450790 + LOVO COSM2877792 c.341T>C p.L114P Substitution - Missense 18:46433469-46433469 + TCGA-HU-8610-01 COSM4072311 c.145G>A p.A49T Substitution - Missense 18:46433273-46433273 + TCGA-G4-6586-01 COSM1388797 c.852delG p.E286fs*22 Deletion - Frameshift 18:46456009-46456009 + TCGA-D3-A2JF-06 COSM3525987 c.294C>T p.F98F Substitution - coding silent 18:46433422-46433422 + TCGA-FW-A3R5-06 COSM3891066 c.655C>T p.H219Y Substitution - Missense 18:46450335-46450335 + pfg212T COSM4754015 c.980T>C p.M327T Substitution - Missense 18:46456575-46456575 + CSCC-44-T COSM4474561 c.192C>A p.L64L Substitution - coding silent 18:46433320-46433320 + Gp2D COSM2877811 c.948T>C p.F316F Substitution - coding silent 18:46456543-46456543 + TCGA-BR-8361-01 COSM4072312 c.330G>C p.Q110H Substitution - Missense 18:46433458-46433458 + PTC-14C COSM4130989 c.259A>C p.T87P Substitution - Missense 18:46433387-46433387 + SJRHB036A COSM3738013 c.533G>A p.R178Q Substitution - Missense 18:46447610-46447610 + 50 COSM5734554 c.160C>A p.L54M Substitution - Missense 18:46433288-46433288 + sysucc-880T COSM5462763 c.271C>T p.Q91* Substitution - Nonsense 18:46433399-46433399 + TCGA-EE-A29E-06 COSM2877796 c.429C>T p.F143F Substitution - coding silent 18:46435340-46435340 + CSCC-30-T COSM4485679 c.295C>T p.L99L Substitution - coding silent 18:46433423-46433423 + TCGA-D1-A17Q-01 COSM988499 c.916G>T p.D306Y Substitution - Missense 18:46456073-46456073 + TCGA-F4-6807-01 COSM1388795 c.243G>A p.S81S Substitution - coding silent 18:46433371-46433371 + LUAD-B02216 COSM335458 c.983G>T p.S328I Substitution - Missense 18:46456578-46456578 + SS6003320 COSM3980322 c.393T>G p.R131R Substitution - coding silent 18:46435304-46435304 + TCGA-CK-4952-01 COSM1388798 c.915A>C p.E305D Substitution - Missense 18:46456072-46456072 + Pat_15_A COSM5854206 c.1004G>A p.R335Q Substitution - Missense 18:46456599-46456599 + CHC1744T COSM4792350 c.669C>G p.L223L Substitution - coding silent 18:46450349-46450349 + CSCC-31-T COSM4471465 c.171C>T p.P57P Substitution - coding silent 18:46433299-46433299 + EGC8 COSM5056043 c.444G>A p.L148L Substitution - coding silent 18:46435355-46435355 + ZZUFHECRKL-G011T COSM5445244 c.355C>T p.R119C Substitution - Missense 18:46433483-46433483 + TCGA-F5-6814-01 COSM3422197 c.886A>C p.I296L Substitution - Missense 18:46456043-46456043 + LUAD-NYU263 COSM372192 c.159G>C p.P53P Substitution - coding silent 18:46433287-46433287 + TCGA-FW-A3R5-06 COSM2877796 c.429C>T p.F143F Substitution - coding silent 18:46435340-46435340 + CSCC-49-T COSM2877788 c.286C>T p.P96S Substitution - Missense 18:46433414-46433414 + CSCC-32-T COSM4567554 c.762_763GG>AA p.G255R Substitution - Missense 18:46450745-46450746 + TCGA-EE-A29S-06 COSM2877788 c.286C>T p.P96S Substitution - Missense 18:46433414-46433414 + SNUH_G16_S1 COSM2877791 c.340C>A p.L114M Substitution - Missense 18:46433468-46433468 + CSCC-7-T COSM4466735 c.144C>T p.L48L Substitution - coding silent 18:46433272-46433272 + TCGA-EE-A29D-06 COSM3525986 c.156C>T p.F52F Substitution - coding silent 18:46433284-46433284 + TCGA-BS-A0UF-01 COSM988497 c.700G>A p.A234T Substitution - Missense 18:46450380-46450380 + TCGA-06-5858-01 COSM2877813 c.960C>T p.C320C Substitution - coding silent 18:46456555-46456555 + TCGA-AA-3975-01 COSM297458 c.1021C>A p.Q341K Substitution - Missense 18:46456616-46456616 + TCGA-EE-A3AH-06 COSM3525994 c.660C>T p.F220F Substitution - coding silent 18:46450340-46450340 + TCGA-EB-A431-01 COSM3891067 c.674G>A p.G225E Substitution - Missense 18:46450354-46450354 + sysucc-783T COSM5484199 c.661C>T p.L221F Substitution - Missense 18:46450341-46450341 + Au10 COSM2877800 c.625G>A p.E209K Substitution - Missense 18:46450305-46450305 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.501114 18q21.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T IntronicSNV . c.61+28636A>T 18 43942934 CLL C A Missense p.A157D c.470C>A 18 44015344 CM C A Missense p.L188I c.562C>A 18 44027602 LUAD C A Missense p.L243M c.727C>A 18 44030673 LUAD C A Missense p.Q341K c.1021C>A 18 44036579 COREAD C G Missense p.L148V c.442C>G 18 44015316 UCEC C T 3-UTRSNV . c.1038+34C>T 18 44036630 CM C T IntronicSNV . c.61+23165C>T 18 43937463 PIA C T Missense p.P197S c.589C>T 18 44027629 CM C T Missense p.P216S c.646C>T 18 44030289 CM C T Missense p.P228S c.682C>T 18 44030325 CM C T Missense p.P96S c.286C>T 18 44013377 CM C T Missense p.S97F c.290C>T 18 44013381 BRCA C T Nonsense p.R211* c.631C>T 18 44030274 CM C T Synonymous p.F220F c.660C>T 18 44030303 CM C T Synonymous p.F98F c.294C>T 18 44013385 CM C T Synonymous p.S202S c.606C>T 18 44027646 CM C T Synonymous p.S233S c.699C>T 18 44030342 LUAD G A 3-UTRSNV . c.1038+6G>A 18 44036602 CM G A Missense p.G285R c.853G>A 18 44035973 BLCA G A Synonymous p.P53P c.159G>A 18 44013250 CM G A Synonymous p.Q28Q c.84G>A 18 44013175 CM G C Missense p.A234P c.700G>C 18 44030343 LUAD G C Missense p.E262Q c.784G>C 18 44030730 BRCA G T Missense p.C297F c.890G>T 18 44036010 LUAD G T Missense p.D144Y c.430G>T 18 44015304 CLL G T Missense p.K269N c.807G>T 18 44030753 BRCA T C Synonymous p.L221L c.663T>C 18 44030306 CM T G SpliceDonorSNV . c.377+2T>G 18 44013470 CM