Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 16 66839882 66839882 + Missense_Mutation SNP A A G TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr16:66839882A>G c.1378T>C c.(1378-1380)Tgt>Cgt p.C460R BLCA 16 66847711 66847711 + Silent SNP G G C TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 g.chr16:66847711G>C c.879C>G c.(877-879)cgC>cgG p.R293R BLCA 16 66850901 66850901 + Missense_Mutation SNP C C G TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr16:66850901C>G c.715G>C c.(715-717)Gaa>Caa p.E239Q BLCA 16 66860670 66860670 + Missense_Mutation SNP G G A TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 g.chr16:66860670G>A c.67C>T c.(67-69)Cat>Tat p.H23Y BRCA 16 66839867 66839867 + Frame_Shift_Del DEL G G - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 g.chr16:66839867delG c.1393delC c.(1393-1395)cttfs p.L465fs BRCA 16 66842961 66842961 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr16:66842961G>C c.1168C>G c.(1168-1170)Ctt>Gtt p.L390V CHOL 16 66839907 66839907 + Missense_Mutation SNP T T A TCGA-3X-AAVC-01A-21D-A417-09 TCGA-3X-AAVC-10A-01D-A41A-09 g.chr16:66839907T>A c.1353A>T c.(1351-1353)gaA>gaT p.E451D COAD 16 66839713 66839713 + Missense_Mutation SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr16:66839713C>T c.1462G>A c.(1462-1464)Gct>Act p.A488T COAD 16 66842914 66842914 + Silent SNP A A G TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr16:66842914A>G c.1215T>C c.(1213-1215)gaT>gaC p.D405D COAD 16 66842915 66842915 + Missense_Mutation SNP T T C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr16:66842915T>C c.1214A>G c.(1213-1215)gAt>gGt p.D405G COAD 16 66842915 66842915 + Missense_Mutation SNP T T C TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr16:66842915T>C c.1214A>G c.(1213-1215)gAt>gGt p.D405G COAD 16 66844645 66844645 + Silent SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr16:66844645G>A c.1065C>T c.(1063-1065)gcC>gcT p.A355A COAD 16 66860487 66860487 + Splice_Site SNP C C A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr16:66860487C>A c.e3-1 COAD 16 66860652 66860652 + Nonsense_Mutation SNP C C A TCGA-AA-3994-01A-01W-1073-09 TCGA-AA-3994-10A-01W-1073-09 g.chr16:66860652C>A c.85G>T c.(85-87)Gaa>Taa p.E29* COADREAD 16 66839713 66839713 + Missense_Mutation SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr16:66839713C>T c.1462G>A c.(1462-1464)Gct>Act p.A488T COADREAD 16 66842914 66842914 + Silent SNP A A G TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr16:66842914A>G c.1215T>C c.(1213-1215)gaT>gaC p.D405D COADREAD 16 66842914 66842914 + Silent SNP A A G TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr16:66842914A>G c.1215T>C c.(1213-1215)gaT>gaC p.D405D COADREAD 16 66842915 66842915 + Missense_Mutation SNP T T C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr16:66842915T>C c.1214A>G c.(1213-1215)gAt>gGt p.D405G COADREAD 16 66842915 66842915 + Missense_Mutation SNP T T C TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr16:66842915T>C c.1214A>G c.(1213-1215)gAt>gGt p.D405G COADREAD 16 66842915 66842915 + Missense_Mutation SNP T T C TCGA-F5-6813-01A-11D-1826-10 TCGA-F5-6813-10A-01D-1826-10 g.chr16:66842915T>C c.1214A>G c.(1213-1215)gAt>gGt p.D405G COADREAD 16 66842916 66842916 + Missense_Mutation SNP C C T TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr16:66842916C>T c.1213G>A c.(1213-1215)Gat>Aat p.D405N COADREAD 16 66844645 66844645 + Silent SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr16:66844645G>A c.1065C>T c.(1063-1065)gcC>gcT p.A355A COADREAD 16 66855428 66855428 + Missense_Mutation SNP A A G TCGA-AG-A00Y-01A-02W-A005-10 TCGA-AG-A00Y-10A-01W-A005-10 g.chr16:66855428A>G c.436T>C c.(436-438)Tcc>Ccc p.S146P COADREAD 16 66857470 66857470 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:66857470C>A c.283G>T c.(283-285)Gaa>Taa p.E95* COADREAD 16 66860487 66860487 + Splice_Site SNP C C A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr16:66860487C>A c.e3-1 COADREAD 16 66860652 66860652 + Nonsense_Mutation SNP C C A TCGA-AA-3994-01A-01W-1073-09 TCGA-AA-3994-10A-01W-1073-09 g.chr16:66860652C>A c.85G>T c.(85-87)Gaa>Taa p.E29* ESCA 16 66847533 66847533 + Nonsense_Mutation SNP A A C TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 g.chr16:66847533A>C c.968T>G c.(967-969)tTa>tGa p.L323* ESCA 16 66850909 66850909 + Missense_Mutation SNP G G T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 g.chr16:66850909G>T c.707C>A c.(706-708)aCg>aAg p.T236K GBMLGG 16 66842453 66842453 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:66842453C>A c.1301G>T c.(1300-1302)aGa>aTa p.R434I GBMLGG 16 66842495 66842495 + Missense_Mutation SNP T T A TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 g.chr16:66842495T>A c.1259A>T c.(1258-1260)gAt>gTt p.D420V GBMLGG 16 66851378 66851379 + In_Frame_Ins INS - - ATG TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 g.chr16:66851378_66851379insATG c.633_634insCAT c.(631-636)catact>catCATact p.211_212insH HNSC 16 66837006 66837006 + Missense_Mutation SNP T T C TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 g.chr16:66837006T>C c.1511A>G c.(1510-1512)gAg>gGg p.E504G HNSC 16 66839679 66839679 + Splice_Site DEL C C - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 g.chr16:66839679delC c.e19+1 HNSC 16 66839718 66839718 + Missense_Mutation SNP C C G TCGA-QK-A8ZA-01A-11D-A391-08 TCGA-QK-A8ZA-10A-01D-A394-08 g.chr16:66839718C>G c.1457G>C c.(1456-1458)gGa>gCa p.G486A HNSC 16 66847750 66847750 + Splice_Site SNP C C A TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 g.chr16:66847750C>A c.e12-1 HNSC 16 66850564 66850564 + Missense_Mutation SNP T T A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 g.chr16:66850564T>A c.760A>T c.(760-762)Aat>Tat p.N254Y LAML 16 66857169 66857169 + Missense_Mutation SNP C C T TCGA-AB-2986-03A-01D-0739-09 TCGA-AB-2986-11A-01D-0739-09 g.chr16:66857169C>T c.362G>A c.(361-363)tGt>tAt p.C121Y LGG 16 66842453 66842453 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:66842453C>A c.1301G>T c.(1300-1302)aGa>aTa p.R434I LGG 16 66842495 66842495 + Missense_Mutation SNP T T A TCGA-VM-A8CE-01A-11D-A36O-08 TCGA-VM-A8CE-10A-01D-A367-08 g.chr16:66842495T>A c.1259A>T c.(1258-1260)gAt>gTt p.D420V LGG 16 66851378 66851379 + In_Frame_Ins INS - - ATG TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 g.chr16:66851378_66851379insATG c.633_634insCAT c.(631-636)catact>catCATact p.211_212insH LUAD 16 66837013 66837013 + Missense_Mutation SNP C C A TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr16:66837013C>A c.1504G>T c.(1504-1506)Gct>Tct p.A502S LUAD 16 66842457 66842457 + Missense_Mutation SNP C C G TCGA-05-5425-01A-02D-1625-08 TCGA-05-5425-10A-01D-1625-08 g.chr16:66842457C>G c.1297G>C c.(1297-1299)Gat>Cat p.D433H LUAD 16 66842900 66842900 + Missense_Mutation SNP T T A TCGA-50-5051-01A-21D-1855-08 TCGA-50-5051-10A-01D-1855-08 g.chr16:66842900T>A c.1229A>T c.(1228-1230)gAt>gTt p.D410V LUAD 16 66842948 66842948 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr16:66842948C>T c.1181G>A c.(1180-1182)aGa>aAa p.R394K LUAD 16 66844652 66844652 + Missense_Mutation SNP T T C TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr16:66844652T>C c.1058A>G c.(1057-1059)gAt>gGt p.D353G LUAD 16 66847735 66847735 + Silent SNP A A T TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 g.chr16:66847735A>T c.855T>A c.(853-855)atT>atA p.I285I LUAD 16 66850922 66850922 + Nonsense_Mutation SNP G G A TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 g.chr16:66850922G>A c.694C>T c.(694-696)Cga>Tga p.R232* OV 16 66839822 66839822 + Missense_Mutation SNP G G C TCGA-36-2534-01A-01D-1526-09 TCGA-36-2534-10A-01D-1526-09 g.chr16:66839822G>C c.1438C>G c.(1438-1440)Cac>Gac p.H480D OV 16 66842915 66842915 + Missense_Mutation SNP T T G TCGA-25-1625-01A-01W-0615-10 TCGA-25-1625-10A-01W-0615-10 g.chr16:66842915T>G c.1214A>C c.(1213-1215)gAt>gCt p.D405A PAAD 16 66842917 66842917 + Missense_Mutation SNP C C A TCGA-YB-A89D-01A-12D-A36O-08 TCGA-YB-A89D-10A-01D-A367-08 g.chr16:66842917C>A c.1212G>T c.(1210-1212)ttG>ttT p.L404F PRAD 16 66852502 66852502 + Nonsense_Mutation SNP G G A TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr16:66852502G>A c.550C>T c.(550-552)Cga>Tga p.R184* READ 16 66842914 66842914 + Silent SNP A A G TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr16:66842914A>G c.1215T>C c.(1213-1215)gaT>gaC p.D405D READ 16 66842915 66842915 + Missense_Mutation SNP T T C TCGA-F5-6813-01A-11D-1826-10 TCGA-F5-6813-10A-01D-1826-10 g.chr16:66842915T>C c.1214A>G c.(1213-1215)gAt>gGt p.D405G READ 16 66842916 66842916 + Missense_Mutation SNP C C T TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr16:66842916C>T c.1213G>A c.(1213-1215)Gat>Aat p.D405N READ 16 66855428 66855428 + Missense_Mutation SNP A A G TCGA-AG-A00Y-01A-02W-A005-10 TCGA-AG-A00Y-10A-01W-A005-10 g.chr16:66855428A>G c.436T>C c.(436-438)Tcc>Ccc p.S146P READ 16 66857470 66857470 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:66857470C>A c.283G>T c.(283-285)Gaa>Taa p.E95* SKCM 16 66839687 66839687 + Silent SNP G G A TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr16:66839687G>A c.1488C>T c.(1486-1488)ttC>ttT p.F496F SKCM 16 66842427 66842427 + Missense_Mutation SNP G G A TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr16:66842427G>A c.1327C>T c.(1327-1329)Cca>Tca p.P443S SKCM 16 66844305 66844305 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr16:66844305G>A c.1122C>T c.(1120-1122)tcC>tcT p.S374S SKCM 16 66844668 66844668 + Missense_Mutation SNP C C T TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr16:66844668C>T c.1042G>A c.(1042-1044)Gaa>Aaa p.E348K SKCM 16 66858781 66858781 + Missense_Mutation SNP G G C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr16:66858781G>C c.226C>G c.(226-228)Ctt>Gtt p.L76V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 16 66842898 66842898 single base substitution C T downstream_gene_variant BLCA-CN 16 66842898 66842898 single base substitution C T missense_variant E322K 964G>A BLCA-CN 16 66842898 66842898 single base substitution C T missense_variant E405K 1213G>A BLCA-CN 16 66842898 66842898 single base substitution C T missense_variant E411K 1231G>A BLCA-CN 16 66842898 66842898 single base substitution C T missense_variant E414K 1240G>A BLCA-CN 16 66842898 66842898 single base substitution C T missense_variant E42K 124G>A BLCA-CN 16 66842898 66842898 single base substitution C T upstream_gene_variant BLCA-US 16 66847711 66847711 single base substitution G C downstream_gene_variant BLCA-US 16 66847711 66847711 single base substitution G C exon_variant BLCA-US 16 66847711 66847711 single base substitution G C synonymous_variant R204R 612C>G BLCA-US 16 66847711 66847711 single base substitution G C synonymous_variant R287R 861C>G BLCA-US 16 66847711 66847711 single base substitution G C synonymous_variant R293R 879C>G BLCA-US 16 66847711 66847711 single base substitution G C synonymous_variant R296R 888C>G BLCA-US 16 66847711 66847711 single base substitution G C upstream_gene_variant BLCA-US 16 66860670 66860670 single base substitution G A 3_prime_UTR_variant BLCA-US 16 66860670 66860670 single base substitution G A 5_prime_UTR_variant BLCA-US 16 66860670 66860670 single base substitution G A exon_variant BLCA-US 16 66860670 66860670 single base substitution G A intron_variant BLCA-US 16 66860670 66860670 single base substitution G A missense_variant H17Y 49C>T BLCA-US 16 66860670 66860670 single base substitution G A missense_variant H23Y 67C>T BLCA-US 16 66860670 66860670 single base substitution G A missense_variant H58Y 172C>T BLCA-US 16 66881069 66881069 single base substitution C T intron_variant BOCA-FR 16 66903460 66903460 single base substitution T C intron_variant BRCA-EU 16 66833032 66833032 single base substitution G C downstream_gene_variant BRCA-EU 16 66834463 66834463 single base substitution G A downstream_gene_variant BRCA-EU 16 66837179 66837179 single base substitution G C downstream_gene_variant BRCA-EU 16 66837179 66837179 single base substitution G C intron_variant BRCA-EU 16 66838020 66838020 single base substitution G A downstream_gene_variant BRCA-EU 16 66838020 66838020 single base substitution G A intron_variant BRCA-EU 16 66839790 66839790 single base substitution C G exon_variant BRCA-EU 16 66839790 66839790 single base substitution C G intron_variant BRCA-EU 16 66842589 66842589 single base substitution T A downstream_gene_variant BRCA-EU 16 66842589 66842589 single base substitution T A exon_variant BRCA-EU 16 66842589 66842589 single base substitution T A intron_variant BRCA-EU 16 66842589 66842589 single base substitution T A upstream_gene_variant BRCA-EU 16 66842684 66842684 single base substitution C G downstream_gene_variant BRCA-EU 16 66842684 66842684 single base substitution C G intron_variant BRCA-EU 16 66842684 66842684 single base substitution C G upstream_gene_variant BRCA-EU 16 66845431 66845431 deletion of <=200bp A - downstream_gene_variant BRCA-EU 16 66845431 66845431 deletion of <=200bp A - intron_variant BRCA-EU 16 66845431 66845431 deletion of <=200bp A - upstream_gene_variant BRCA-EU 16 66845702 66845702 single base substitution C G downstream_gene_variant BRCA-EU 16 66845702 66845702 single base substitution C G intron_variant BRCA-EU 16 66845702 66845702 single base substitution C G upstream_gene_variant BRCA-EU 16 66846585 66846585 single base substitution T A downstream_gene_variant BRCA-EU 16 66846585 66846585 single base substitution T A intron_variant BRCA-EU 16 66846585 66846585 single base substitution T A upstream_gene_variant BRCA-EU 16 66846956 66846956 single base substitution G A downstream_gene_variant BRCA-EU 16 66846956 66846956 single base substitution G A intron_variant BRCA-EU 16 66846956 66846956 single base substitution G A upstream_gene_variant BRCA-EU 16 66848420 66848420 single base substitution C A downstream_gene_variant BRCA-EU 16 66848420 66848420 single base substitution C A intron_variant BRCA-EU 16 66848420 66848420 single base substitution C A upstream_gene_variant BRCA-EU 16 66852598 66852598 single base substitution G C downstream_gene_variant BRCA-EU 16 66852598 66852598 single base substitution G C intron_variant BRCA-EU 16 66852598 66852598 single base substitution G C upstream_gene_variant BRCA-EU 16 66853233 66853233 single base substitution C T downstream_gene_variant BRCA-EU 16 66853233 66853233 single base substitution C T intron_variant BRCA-EU 16 66853233 66853233 single base substitution C T upstream_gene_variant BRCA-EU 16 66853439 66853439 single base substitution C G downstream_gene_variant BRCA-EU 16 66853439 66853439 single base substitution C G intron_variant BRCA-EU 16 66853439 66853439 single base substitution C G upstream_gene_variant BRCA-EU 16 66856666 66856666 single base substitution T G downstream_gene_variant BRCA-EU 16 66856666 66856666 single base substitution T G intron_variant BRCA-EU 16 66860045 66860045 single base substitution T C exon_variant BRCA-EU 16 66860045 66860045 single base substitution T C intron_variant BRCA-EU 16 66860964 66860964 single base substitution C G intron_variant BRCA-EU 16 66865143 66865143 single base substitution T C intron_variant BRCA-EU 16 66865143 66865143 single base substitution T C upstream_gene_variant BRCA-EU 16 66867202 66867202 deletion of <=200bp T - intron_variant BRCA-EU 16 66867202 66867202 deletion of <=200bp T - upstream_gene_variant BRCA-EU 16 66868545 66868545 single base substitution C A intron_variant BRCA-EU 16 66868545 66868545 single base substitution C A upstream_gene_variant BRCA-EU 16 66869073 66869073 single base substitution T G intron_variant BRCA-EU 16 66869073 66869073 single base substitution T G upstream_gene_variant BRCA-EU 16 66870690 66870690 deletion of <=200bp A - intron_variant BRCA-EU 16 66870788 66870788 single base substitution G C intron_variant BRCA-EU 16 66871259 66871259 single base substitution C A intron_variant BRCA-EU 16 66871351 66871351 single base substitution C A intron_variant BRCA-EU 16 66871399 66871399 single base substitution C G intron_variant BRCA-EU 16 66873714 66873714 single base substitution G T intron_variant BRCA-EU 16 66877385 66877385 single base substitution T G intron_variant BRCA-EU 16 66878340 66878340 single base substitution G A intron_variant BRCA-EU 16 66879880 66879880 single base substitution G A intron_variant BRCA-EU 16 66882558 66882558 single base substitution G T intron_variant BRCA-EU 16 66882820 66882820 single base substitution C G intron_variant BRCA-EU 16 66883252 66883252 single base substitution G C intron_variant BRCA-EU 16 66884164 66884164 single base substitution G A intron_variant BRCA-EU 16 66885663 66885663 single base substitution T C intron_variant BRCA-EU 16 66885941 66885941 single base substitution C A intron_variant BRCA-EU 16 66887607 66887607 single base substitution G T intron_variant BRCA-EU 16 66887780 66887780 single base substitution C G intron_variant BRCA-EU 16 66888617 66888617 single base substitution G T intron_variant BRCA-EU 16 66889639 66889639 single base substitution G C intron_variant BRCA-EU 16 66890043 66890043 single base substitution A C intron_variant BRCA-EU 16 66890474 66890474 single base substitution C G intron_variant BRCA-EU 16 66890721 66890721 single base substitution C T intron_variant BRCA-EU 16 66891557 66891557 single base substitution C A intron_variant BRCA-EU 16 66891564 66891564 single base substitution C T intron_variant BRCA-EU 16 66891969 66891969 single base substitution C G intron_variant BRCA-EU 16 66892415 66892415 single base substitution T G intron_variant BRCA-EU 16 66892933 66892933 single base substitution A G intron_variant BRCA-EU 16 66893570 66893570 single base substitution T C intron_variant BRCA-EU 16 66893652 66893652 single base substitution G C intron_variant BRCA-EU 16 66893977 66893977 single base substitution C T intron_variant BRCA-EU 16 66894001 66894001 single base substitution G C intron_variant BRCA-EU 16 66896265 66896265 single base substitution C A intron_variant BRCA-EU 16 66897453 66897453 single base substitution C T intron_variant BRCA-EU 16 66898899 66898899 single base substitution C T intron_variant BRCA-EU 16 66899721 66899721 single base substitution G T intron_variant BRCA-EU 16 66901414 66901414 single base substitution G T intron_variant BRCA-EU 16 66901592 66901592 single base substitution A G intron_variant BRCA-EU 16 66902419 66902419 single base substitution C T intron_variant BRCA-EU 16 66903261 66903261 single base substitution T A intron_variant BRCA-EU 16 66904733 66904733 single base substitution T A intron_variant BRCA-EU 16 66906451 66906451 single base substitution T A intron_variant BRCA-EU 16 66907359 66907359 single base substitution G T upstream_gene_variant BRCA-EU 16 66911416 66911417 deletion of <=200bp GT - upstream_gene_variant BRCA-EU 16 66911979 66911979 single base substitution C T upstream_gene_variant BRCA-FR 16 66844040 66844040 single base substitution G A downstream_gene_variant BRCA-FR 16 66844040 66844040 single base substitution G A intron_variant BRCA-FR 16 66844040 66844040 single base substitution G A upstream_gene_variant BRCA-FR 16 66852598 66852598 single base substitution G C downstream_gene_variant BRCA-FR 16 66852598 66852598 single base substitution G C intron_variant BRCA-FR 16 66852598 66852598 single base substitution G C upstream_gene_variant BRCA-FR 16 66871259 66871259 single base substitution C A intron_variant BRCA-FR 16 66875326 66875326 single base substitution G A intron_variant BRCA-FR 16 66877717 66877717 single base substitution G T intron_variant BRCA-FR 16 66884164 66884164 single base substitution G A intron_variant BRCA-FR 16 66889639 66889639 single base substitution G C intron_variant BRCA-FR 16 66891557 66891557 single base substitution C A intron_variant BRCA-FR 16 66891564 66891564 single base substitution C T intron_variant BRCA-UK 16 66860045 66860045 single base substitution T C exon_variant BRCA-UK 16 66860045 66860045 single base substitution T C intron_variant BRCA-UK 16 66890474 66890474 single base substitution C G intron_variant BRCA-US 16 66839867 66839867 deletion of <=200bp G - exon_variant BRCA-US 16 66839867 66839867 deletion of <=200bp G - frameshift_variant L31 BRCA-US 16 66839867 66839867 deletion of <=200bp G - frameshift_variant L376 BRCA-US 16 66839867 66839867 deletion of <=200bp G - frameshift_variant L459 BRCA-US 16 66839867 66839867 deletion of <=200bp G - frameshift_variant L465 BRCA-US 16 66839867 66839867 deletion of <=200bp G - frameshift_variant L468 BRCA-US 16 66839867 66839867 deletion of <=200bp G - frameshift_variant L96 BRCA-US 16 66842961 66842961 single base substitution G C downstream_gene_variant BRCA-US 16 66842961 66842961 single base substitution G C missense_variant L21V 61C>G BRCA-US 16 66842961 66842961 single base substitution G C missense_variant L301V 901C>G BRCA-US 16 66842961 66842961 single base substitution G C missense_variant L384V 1150C>G BRCA-US 16 66842961 66842961 single base substitution G C missense_variant L390V 1168C>G BRCA-US 16 66842961 66842961 single base substitution G C missense_variant L393V 1177C>G BRCA-US 16 66842961 66842961 single base substitution G C upstream_gene_variant BRCA-US 16 66884454 66884454 single base substitution G A intron_variant BTCA-JP 16 66842525 66842525 deletion of <=200bp A - downstream_gene_variant BTCA-JP 16 66842525 66842525 deletion of <=200bp A - exon_variant BTCA-JP 16 66842525 66842525 deletion of <=200bp A - intron_variant BTCA-JP 16 66842525 66842525 deletion of <=200bp A - upstream_gene_variant BTCA-JP 16 66857240 66857240 insertion of <=200bp - A downstream_gene_variant BTCA-JP 16 66857240 66857240 insertion of <=200bp - A intron_variant BTCA-JP 16 66864744 66864744 single base substitution G A intron_variant BTCA-JP 16 66878633 66878633 single base substitution G T intron_variant BTCA-JP 16 66885595 66885595 single base substitution G A intron_variant BTCA-JP 16 66887374 66887374 single base substitution C T intron_variant BTCA-JP 16 66887414 66887414 single base substitution C T intron_variant CESC-US 16 66881082 66881082 single base substitution A G intron_variant CLLE-ES 16 66834621 66834621 single base substitution C T downstream_gene_variant CLLE-ES 16 66850807 66850807 single base substitution A C 3_prime_UTR_variant CLLE-ES 16 66850807 66850807 single base substitution A C downstream_gene_variant CLLE-ES 16 66850807 66850807 single base substitution A C intron_variant CLLE-ES 16 66850807 66850807 single base substitution A C upstream_gene_variant CLLE-ES 16 66893961 66893961 single base substitution G T intron_variant CLLE-ES 16 66901793 66901793 single base substitution A G intron_variant COAD-US 16 66844296 66844296 single base substitution C A downstream_gene_variant COAD-US 16 66844296 66844296 single base substitution C A missense_variant E288D 864G>T COAD-US 16 66844296 66844296 single base substitution C A missense_variant E371D 1113G>T COAD-US 16 66844296 66844296 single base substitution C A missense_variant E377D 1131G>T COAD-US 16 66844296 66844296 single base substitution C A missense_variant E380D 1140G>T COAD-US 16 66844296 66844296 single base substitution C A missense_variant E8D 24G>T COAD-US 16 66844296 66844296 single base substitution C A upstream_gene_variant COAD-US 16 66844645 66844645 single base substitution G A downstream_gene_variant COAD-US 16 66844645 66844645 single base substitution G A synonymous_variant A266A 798C>T COAD-US 16 66844645 66844645 single base substitution G A synonymous_variant A349A 1047C>T COAD-US 16 66844645 66844645 single base substitution G A synonymous_variant A355A 1065C>T COAD-US 16 66844645 66844645 single base substitution G A synonymous_variant A358A 1074C>T COAD-US 16 66844645 66844645 single base substitution G A upstream_gene_variant COAD-US 16 66860487 66860487 single base substitution C A intron_variant COAD-US 16 66860487 66860487 single base substitution C A splice_acceptor_variant COAD-US 16 66885450 66885450 insertion of <=200bp - T intron_variant COCA-CN 16 66839553 66839553 single base substitution A G exon_variant COCA-CN 16 66839553 66839553 single base substitution A G intron_variant COCA-CN 16 66847525 66847525 single base substitution G A downstream_gene_variant COCA-CN 16 66847525 66847525 single base substitution G A exon_variant COCA-CN 16 66847525 66847525 single base substitution G A stop_gained R237* 709C>T COCA-CN 16 66847525 66847525 single base substitution G A stop_gained R320* 958C>T COCA-CN 16 66847525 66847525 single base substitution G A stop_gained R326* 976C>T COCA-CN 16 66847525 66847525 single base substitution G A stop_gained R329* 985C>T COCA-CN 16 66847525 66847525 single base substitution G A upstream_gene_variant COCA-CN 16 66850535 66850535 single base substitution C A 3_prime_UTR_variant COCA-CN 16 66850535 66850535 single base substitution C A downstream_gene_variant COCA-CN 16 66850535 66850535 single base substitution C A exon_variant COCA-CN 16 66850535 66850535 single base substitution C A missense_variant E174D 522G>T COCA-CN 16 66850535 66850535 single base substitution C A missense_variant E257D 771G>T COCA-CN 16 66850535 66850535 single base substitution C A missense_variant E263D 789G>T COCA-CN 16 66850535 66850535 single base substitution C A missense_variant E266D 798G>T COCA-CN 16 66850690 66850690 single base substitution C T 3_prime_UTR_variant COCA-CN 16 66850690 66850690 single base substitution C T downstream_gene_variant COCA-CN 16 66850690 66850690 single base substitution C T intron_variant COCA-CN 16 66850690 66850690 single base substitution C T upstream_gene_variant COCA-CN 16 66852590 66852590 single base substitution A G downstream_gene_variant COCA-CN 16 66852590 66852590 single base substitution A G intron_variant COCA-CN 16 66852590 66852590 single base substitution A G upstream_gene_variant COCA-CN 16 66858857 66858857 single base substitution A G downstream_gene_variant COCA-CN 16 66858857 66858857 single base substitution A G intron_variant COCA-CN 16 66884610 66884610 single base substitution G A intron_variant COCA-CN 16 66886510 66886510 single base substitution G A intron_variant COCA-CN 16 66886512 66886512 single base substitution A G intron_variant EOPC-DE 16 66847907 66847907 single base substitution A G downstream_gene_variant EOPC-DE 16 66847907 66847907 single base substitution A G intron_variant EOPC-DE 16 66847907 66847907 single base substitution A G upstream_gene_variant EOPC-DE 16 66887931 66887931 single base substitution C T intron_variant EOPC-DE 16 66890637 66890637 single base substitution C T intron_variant ESAD-UK 16 66835218 66835218 single base substitution C T downstream_gene_variant ESAD-UK 16 66835365 66835365 single base substitution A G downstream_gene_variant ESAD-UK 16 66836170 66836170 single base substitution T A downstream_gene_variant ESAD-UK 16 66836646 66836646 single base substitution A T downstream_gene_variant ESAD-UK 16 66836651 66836651 single base substitution A T downstream_gene_variant ESAD-UK 16 66837618 66837618 single base substitution C G downstream_gene_variant ESAD-UK 16 66837618 66837618 single base substitution C G intron_variant ESAD-UK 16 66838052 66838052 single base substitution G A downstream_gene_variant ESAD-UK 16 66838052 66838052 single base substitution G A intron_variant ESAD-UK 16 66840563 66840563 single base substitution G A intron_variant ESAD-UK 16 66840563 66840563 single base substitution G A upstream_gene_variant ESAD-UK 16 66855504 66855504 single base substitution G A downstream_gene_variant ESAD-UK 16 66855504 66855504 single base substitution G A intron_variant ESAD-UK 16 66855504 66855504 single base substitution G A upstream_gene_variant ESAD-UK 16 66859698 66859698 single base substitution A C downstream_gene_variant ESAD-UK 16 66859698 66859698 single base substitution A C intron_variant ESAD-UK 16 66860165 66860165 single base substitution C T exon_variant ESAD-UK 16 66860165 66860165 single base substitution C T intron_variant ESAD-UK 16 66861254 66861254 single base substitution G A intron_variant ESAD-UK 16 66863467 66863467 single base substitution G A intron_variant ESAD-UK 16 66863489 66863490 deletion of <=200bp AG - intron_variant ESAD-UK 16 66865015 66865015 single base substitution C T intron_variant ESAD-UK 16 66865015 66865015 single base substitution C T upstream_gene_variant ESAD-UK 16 66866158 66866158 deletion of <=200bp G - intron_variant ESAD-UK 16 66866158 66866158 deletion of <=200bp G - upstream_gene_variant ESAD-UK 16 66869726 66869726 single base substitution G A intron_variant ESAD-UK 16 66869726 66869726 single base substitution G A upstream_gene_variant ESAD-UK 16 66870817 66870817 single base substitution G A intron_variant ESAD-UK 16 66874332 66874332 single base substitution C T intron_variant ESAD-UK 16 66874385 66874385 single base substitution A C intron_variant ESAD-UK 16 66879308 66879308 single base substitution C T intron_variant ESAD-UK 16 66879371 66879371 single base substitution G A intron_variant ESAD-UK 16 66879374 66879374 deletion of <=200bp A - intron_variant ESAD-UK 16 66880620 66880620 single base substitution C T intron_variant ESAD-UK 16 66881792 66881792 single base substitution G T intron_variant ESAD-UK 16 66883599 66883599 single base substitution G A intron_variant ESAD-UK 16 66889489 66889489 single base substitution T A intron_variant ESAD-UK 16 66890375 66890375 single base substitution A G intron_variant ESAD-UK 16 66893385 66893385 single base substitution G A intron_variant ESAD-UK 16 66894902 66894902 single base substitution G A intron_variant ESAD-UK 16 66896794 66896794 single base substitution A T intron_variant ESAD-UK 16 66896945 66896945 single base substitution C T intron_variant ESAD-UK 16 66898157 66898157 single base substitution G A intron_variant ESAD-UK 16 66900991 66900991 single base substitution A G intron_variant ESAD-UK 16 66901303 66901303 single base substitution G A intron_variant ESAD-UK 16 66901865 66901865 single base substitution G A intron_variant ESAD-UK 16 66902219 66902219 single base substitution G T intron_variant ESAD-UK 16 66905519 66905519 deletion of <=200bp A - intron_variant ESAD-UK 16 66909987 66909987 single base substitution T C upstream_gene_variant ESAD-UK 16 66910044 66910044 single base substitution A T upstream_gene_variant ESAD-UK 16 66910286 66910286 single base substitution G A upstream_gene_variant ESAD-UK 16 66910302 66910302 single base substitution C T upstream_gene_variant ESAD-UK 16 66910572 66910572 deletion of <=200bp T - upstream_gene_variant ESAD-UK 16 66910979 66910979 single base substitution A G upstream_gene_variant ESAD-UK 16 66911847 66911847 deletion of <=200bp A - upstream_gene_variant ESAD-UK 16 66912007 66912007 single base substitution T C upstream_gene_variant ESCA-CN 16 66847701 66847701 single base substitution T C downstream_gene_variant ESCA-CN 16 66847701 66847701 single base substitution T C exon_variant ESCA-CN 16 66847701 66847701 single base substitution T C missense_variant I208V 622A>G ESCA-CN 16 66847701 66847701 single base substitution T C missense_variant I291V 871A>G ESCA-CN 16 66847701 66847701 single base substitution T C missense_variant I297V 889A>G ESCA-CN 16 66847701 66847701 single base substitution T C missense_variant I300V 898A>G ESCA-CN 16 66847701 66847701 single base substitution T C upstream_gene_variant ESCA-CN 16 66850535 66850535 single base substitution C G 3_prime_UTR_variant ESCA-CN 16 66850535 66850535 single base substitution C G downstream_gene_variant ESCA-CN 16 66850535 66850535 single base substitution C G exon_variant ESCA-CN 16 66850535 66850535 single base substitution C G missense_variant E174D 522G>C ESCA-CN 16 66850535 66850535 single base substitution C G missense_variant E257D 771G>C ESCA-CN 16 66850535 66850535 single base substitution C G missense_variant E263D 789G>C ESCA-CN 16 66850535 66850535 single base substitution C G missense_variant E266D 798G>C ESCA-CN 16 66852502 66852502 single base substitution G A 3_prime_UTR_variant ESCA-CN 16 66852502 66852502 single base substitution G A downstream_gene_variant ESCA-CN 16 66852502 66852502 single base substitution G A stop_gained R178* 532C>T ESCA-CN 16 66852502 66852502 single base substitution G A stop_gained R184* 550C>T ESCA-CN 16 66852502 66852502 single base substitution G A stop_gained R187* 559C>T ESCA-CN 16 66852502 66852502 single base substitution G A stop_gained R68* 202C>T ESCA-CN 16 66852502 66852502 single base substitution G A stop_gained R95* 283C>T ESCA-CN 16 66852502 66852502 single base substitution G A upstream_gene_variant KIRC-US 16 66887326 66887326 single base substitution G A intron_variant KIRC-US 16 66887326 66887326 single base substitution G T intron_variant LAML-KR 16 66860363 66860363 single base substitution T G exon_variant LAML-KR 16 66860363 66860363 single base substitution T G intron_variant LAML-KR 16 66868264 66868264 single base substitution G A intron_variant LAML-KR 16 66868264 66868264 single base substitution G A upstream_gene_variant LAML-KR 16 66868272 66868272 single base substitution G A intron_variant LAML-KR 16 66868272 66868272 single base substitution G A upstream_gene_variant LAML-KR 16 66880884 66880884 single base substitution C A intron_variant LAML-KR 16 66886559 66886559 single base substitution G A intron_variant LAML-KR 16 66904117 66904117 single base substitution C T intron_variant LAML-KR 16 66904118 66904118 single base substitution A G intron_variant LIAD-FR 16 66852444 66852444 single base substitution T G 3_prime_UTR_variant LIAD-FR 16 66852444 66852444 single base substitution T G downstream_gene_variant LIAD-FR 16 66852444 66852444 single base substitution T G missense_variant H114P 341A>C LIAD-FR 16 66852444 66852444 single base substitution T G missense_variant H197P 590A>C LIAD-FR 16 66852444 66852444 single base substitution T G missense_variant H203P 608A>C LIAD-FR 16 66852444 66852444 single base substitution T G missense_variant H206P 617A>C LIAD-FR 16 66852444 66852444 single base substitution T G missense_variant H87P 260A>C LIAD-FR 16 66852444 66852444 single base substitution T G upstream_gene_variant LICA-FR 16 66834088 66834088 single base substitution G T downstream_gene_variant LICA-FR 16 66839485 66839485 single base substitution G A downstream_gene_variant LICA-FR 16 66839485 66839485 single base substitution G A intron_variant LICA-FR 16 66849422 66849422 single base substitution T C downstream_gene_variant LICA-FR 16 66849422 66849422 single base substitution T C intron_variant LICA-FR 16 66849422 66849422 single base substitution T C upstream_gene_variant LICA-FR 16 66850892 66850892 single base substitution C T 3_prime_UTR_variant LICA-FR 16 66850892 66850892 single base substitution C T downstream_gene_variant LICA-FR 16 66850892 66850892 single base substitution C T missense_variant D153N 457G>A LICA-FR 16 66850892 66850892 single base substitution C T missense_variant D236N 706G>A LICA-FR 16 66850892 66850892 single base substitution C T missense_variant D242N 724G>A LICA-FR 16 66850892 66850892 single base substitution C T missense_variant D245N 733G>A LICA-FR 16 66850892 66850892 single base substitution C T upstream_gene_variant LICA-FR 16 66892399 66892399 insertion of <=200bp - T intron_variant LICA-FR 16 66895191 66895191 single base substitution G A intron_variant LINC-JP 16 66834392 66834392 single base substitution C A downstream_gene_variant LINC-JP 16 66834393 66834393 single base substitution A G downstream_gene_variant LINC-JP 16 66834403 66834403 single base substitution C T downstream_gene_variant LINC-JP 16 66834404 66834404 single base substitution C G downstream_gene_variant LINC-JP 16 66845028 66845028 single base substitution G C downstream_gene_variant LINC-JP 16 66845028 66845028 single base substitution G C intron_variant LINC-JP 16 66845028 66845028 single base substitution G C upstream_gene_variant LINC-JP 16 66852446 66852446 single base substitution A T 3_prime_UTR_variant LINC-JP 16 66852446 66852446 single base substitution A T downstream_gene_variant LINC-JP 16 66852446 66852446 single base substitution A T missense_variant D113E 339T>A LINC-JP 16 66852446 66852446 single base substitution A T missense_variant D196E 588T>A LINC-JP 16 66852446 66852446 single base substitution A T missense_variant D202E 606T>A LINC-JP 16 66852446 66852446 single base substitution A T missense_variant D205E 615T>A LINC-JP 16 66852446 66852446 single base substitution A T missense_variant D86E 258T>A LINC-JP 16 66852446 66852446 single base substitution A T upstream_gene_variant LINC-JP 16 66852994 66852994 single base substitution T A downstream_gene_variant LINC-JP 16 66852994 66852994 single base substitution T A intron_variant LINC-JP 16 66852994 66852994 single base substitution T A upstream_gene_variant LINC-JP 16 66857282 66857295 deletion of <=200bp AGTTAAGCTATTTT - downstream_gene_variant LINC-JP 16 66857282 66857295 deletion of <=200bp AGTTAAGCTATTTT - exon_variant LINC-JP 16 66857282 66857295 deletion of <=200bp AGTTAAGCTATTTT - intron_variant LINC-JP 16 66860833 66860833 single base substitution T C intron_variant LINC-JP 16 66875886 66875886 single base substitution C T intron_variant LINC-JP 16 66884378 66884378 single base substitution C T intron_variant LINC-JP 16 66884803 66884803 single base substitution T C intron_variant LINC-JP 16 66901426 66901426 single base substitution A C intron_variant LINC-JP 16 66903173 66903173 single base substitution G A intron_variant LIRI-JP 16 66835085 66835085 single base substitution C T downstream_gene_variant LIRI-JP 16 66836360 66836360 single base substitution T C downstream_gene_variant LIRI-JP 16 66837174 66837174 single base substitution T C downstream_gene_variant LIRI-JP 16 66837174 66837174 single base substitution T C intron_variant LIRI-JP 16 66838683 66838683 single base substitution C T downstream_gene_variant LIRI-JP 16 66838683 66838683 single base substitution C T intron_variant LIRI-JP 16 66842380 66842380 single base substitution A T downstream_gene_variant LIRI-JP 16 66842380 66842380 single base substitution A T intron_variant LIRI-JP 16 66842380 66842380 single base substitution A T upstream_gene_variant LIRI-JP 16 66844040 66844040 single base substitution G A downstream_gene_variant LIRI-JP 16 66844040 66844040 single base substitution G A intron_variant LIRI-JP 16 66844040 66844040 single base substitution G A upstream_gene_variant LIRI-JP 16 66844857 66844857 single base substitution G A downstream_gene_variant LIRI-JP 16 66844857 66844857 single base substitution G A intron_variant LIRI-JP 16 66844857 66844857 single base substitution G A upstream_gene_variant LIRI-JP 16 66845117 66845117 single base substitution G A downstream_gene_variant LIRI-JP 16 66845117 66845117 single base substitution G A intron_variant LIRI-JP 16 66845117 66845117 single base substitution G A upstream_gene_variant LIRI-JP 16 66847795 66847795 single base substitution C T downstream_gene_variant LIRI-JP 16 66847795 66847795 single base substitution C T intron_variant LIRI-JP 16 66847795 66847795 single base substitution C T upstream_gene_variant LIRI-JP 16 66848733 66848733 single base substitution T C downstream_gene_variant LIRI-JP 16 66848733 66848733 single base substitution T C intron_variant LIRI-JP 16 66848733 66848733 single base substitution T C upstream_gene_variant LIRI-JP 16 66849229 66849229 single base substitution G A downstream_gene_variant LIRI-JP 16 66849229 66849229 single base substitution G A intron_variant LIRI-JP 16 66849229 66849229 single base substitution G A upstream_gene_variant LIRI-JP 16 66850688 66850688 single base substitution T C 3_prime_UTR_variant LIRI-JP 16 66850688 66850688 single base substitution T C downstream_gene_variant LIRI-JP 16 66850688 66850688 single base substitution T C intron_variant LIRI-JP 16 66850688 66850688 single base substitution T C upstream_gene_variant LIRI-JP 16 66852311 66852311 single base substitution T C downstream_gene_variant LIRI-JP 16 66852311 66852311 single base substitution T C intron_variant LIRI-JP 16 66852311 66852311 single base substitution T C upstream_gene_variant LIRI-JP 16 66853196 66853196 single base substitution C T downstream_gene_variant LIRI-JP 16 66853196 66853196 single base substitution C T intron_variant LIRI-JP 16 66853196 66853196 single base substitution C T upstream_gene_variant LIRI-JP 16 66858166 66858166 insertion of <=200bp - A downstream_gene_variant LIRI-JP 16 66858166 66858166 insertion of <=200bp - A intron_variant LIRI-JP 16 66858171 66858171 single base substitution T C downstream_gene_variant LIRI-JP 16 66858171 66858171 single base substitution T C intron_variant LIRI-JP 16 66858370 66858370 single base substitution C A downstream_gene_variant LIRI-JP 16 66858370 66858370 single base substitution C A intron_variant LIRI-JP 16 66860205 66860205 single base substitution T C exon_variant LIRI-JP 16 66860205 66860205 single base substitution T C intron_variant LIRI-JP 16 66862214 66862214 single base substitution T C intron_variant LIRI-JP 16 66866736 66866736 single base substitution G C intron_variant LIRI-JP 16 66866736 66866736 single base substitution G C upstream_gene_variant LIRI-JP 16 66866929 66866929 single base substitution G A intron_variant LIRI-JP 16 66866929 66866929 single base substitution G A upstream_gene_variant LIRI-JP 16 66870643 66870643 single base substitution G A intron_variant LIRI-JP 16 66871343 66871343 single base substitution T C intron_variant LIRI-JP 16 66871378 66871378 single base substitution T C intron_variant LIRI-JP 16 66871637 66871637 single base substitution A G intron_variant LIRI-JP 16 66873223 66873223 single base substitution A G intron_variant LIRI-JP 16 66876509 66876509 single base substitution C T intron_variant LIRI-JP 16 66880161 66880161 single base substitution G A intron_variant LIRI-JP 16 66881128 66881128 deletion of <=200bp C - intron_variant LIRI-JP 16 66882651 66882651 single base substitution C A intron_variant LIRI-JP 16 66884424 66884424 single base substitution C T intron_variant LIRI-JP 16 66886967 66886967 single base substitution A G intron_variant LIRI-JP 16 66887003 66887003 single base substitution C A intron_variant LIRI-JP 16 66890212 66890212 single base substitution G T intron_variant LIRI-JP 16 66890875 66890875 single base substitution G T intron_variant LIRI-JP 16 66891117 66891117 single base substitution C A intron_variant LIRI-JP 16 66891990 66891990 single base substitution T C intron_variant LIRI-JP 16 66893009 66893009 single base substitution G C intron_variant LIRI-JP 16 66894520 66894520 single base substitution T C intron_variant LIRI-JP 16 66899174 66899174 single base substitution C A intron_variant LIRI-JP 16 66902580 66902580 single base substitution G C intron_variant LIRI-JP 16 66903888 66903888 single base substitution G C intron_variant LIRI-JP 16 66908531 66908531 single base substitution A C upstream_gene_variant LIRI-JP 16 66911898 66911898 single base substitution A G upstream_gene_variant LUSC-KR 16 66833982 66833982 single base substitution G A downstream_gene_variant LUSC-KR 16 66834314 66834314 single base substitution G T downstream_gene_variant LUSC-KR 16 66846644 66846644 single base substitution G C downstream_gene_variant LUSC-KR 16 66846644 66846644 single base substitution G C intron_variant LUSC-KR 16 66846644 66846644 single base substitution G C upstream_gene_variant LUSC-KR 16 66850935 66850935 single base substitution A C 3_prime_UTR_variant LUSC-KR 16 66850935 66850935 single base substitution A C downstream_gene_variant LUSC-KR 16 66850935 66850935 single base substitution A C splice_region_variant LUSC-KR 16 66850935 66850935 single base substitution A C upstream_gene_variant LUSC-KR 16 66862019 66862019 single base substitution C G 5_prime_UTR_variant LUSC-KR 16 66862019 66862019 single base substitution C G intron_variant LUSC-KR 16 66865680 66865680 single base substitution C A intron_variant LUSC-KR 16 66865680 66865680 single base substitution C A upstream_gene_variant LUSC-KR 16 66866887 66866887 single base substitution T G intron_variant LUSC-KR 16 66866887 66866887 single base substitution T G upstream_gene_variant LUSC-KR 16 66873888 66873888 single base substitution C T intron_variant LUSC-KR 16 66875410 66875410 single base substitution G A intron_variant LUSC-KR 16 66885405 66885405 single base substitution T C intron_variant LUSC-KR 16 66886581 66886581 single base substitution A G intron_variant LUSC-KR 16 66895119 66895119 single base substitution G A intron_variant LUSC-KR 16 66896227 66896227 single base substitution G C intron_variant LUSC-US 16 66881002 66881002 single base substitution C A intron_variant LUSC-US 16 66881131 66881131 single base substitution G A intron_variant LUSC-US 16 66887337 66887337 single base substitution T A intron_variant MALY-DE 16 66832902 66832902 single base substitution T C downstream_gene_variant MALY-DE 16 66833993 66833993 single base substitution G C downstream_gene_variant MALY-DE 16 66834105 66834109 deletion of <=200bp AAAGA - downstream_gene_variant MALY-DE 16 66835765 66835765 single base substitution C T downstream_gene_variant MALY-DE 16 66850846 66850846 single base substitution A T 3_prime_UTR_variant MALY-DE 16 66850846 66850846 single base substitution A T downstream_gene_variant MALY-DE 16 66850846 66850846 single base substitution A T intron_variant MALY-DE 16 66850846 66850846 single base substitution A T upstream_gene_variant MALY-DE 16 66850856 66850856 single base substitution A G 3_prime_UTR_variant MALY-DE 16 66850856 66850856 single base substitution A G downstream_gene_variant MALY-DE 16 66850856 66850856 single base substitution A G intron_variant MALY-DE 16 66850856 66850856 single base substitution A G upstream_gene_variant MALY-DE 16 66850918 66850918 single base substitution A C 3_prime_UTR_variant MALY-DE 16 66850918 66850918 single base substitution A C downstream_gene_variant MALY-DE 16 66850918 66850918 single base substitution A C missense_variant I144R 431T>G MALY-DE 16 66850918 66850918 single base substitution A C missense_variant I227R 680T>G MALY-DE 16 66850918 66850918 single base substitution A C missense_variant I233R 698T>G MALY-DE 16 66850918 66850918 single base substitution A C missense_variant I236R 707T>G MALY-DE 16 66850918 66850918 single base substitution A C upstream_gene_variant MALY-DE 16 66850998 66850998 single base substitution A T 3_prime_UTR_variant MALY-DE 16 66850998 66850998 single base substitution A T downstream_gene_variant MALY-DE 16 66850998 66850998 single base substitution A T intron_variant MALY-DE 16 66850998 66850998 single base substitution A T upstream_gene_variant MALY-DE 16 66858495 66858495 insertion of <=200bp - A downstream_gene_variant MALY-DE 16 66858495 66858495 insertion of <=200bp - A exon_variant MALY-DE 16 66858495 66858495 insertion of <=200bp - A intron_variant MALY-DE 16 66880078 66880079 deletion of <=200bp GT - intron_variant MALY-DE 16 66886665 66886665 single base substitution C T intron_variant MALY-DE 16 66893787 66893787 single base substitution G T intron_variant MALY-DE 16 66895119 66895119 single base substitution G A intron_variant MALY-DE 16 66903269 66903269 single base substitution T A intron_variant MALY-DE 16 66911993 66911993 single base substitution G A upstream_gene_variant MELA-AU 16 66831878 66831878 single base substitution G A downstream_gene_variant MELA-AU 16 66832310 66832311 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 66832313 66832314 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 66833139 66833139 single base substitution C T downstream_gene_variant MELA-AU 16 66833823 66833823 single base substitution G A downstream_gene_variant MELA-AU 16 66834509 66834509 single base substitution G A downstream_gene_variant MELA-AU 16 66834644 66834644 single base substitution T A downstream_gene_variant MELA-AU 16 66834825 66834825 single base substitution G A downstream_gene_variant MELA-AU 16 66834828 66834828 single base substitution G A downstream_gene_variant MELA-AU 16 66834964 66834964 single base substitution G A downstream_gene_variant MELA-AU 16 66834978 66834978 single base substitution G A downstream_gene_variant MELA-AU 16 66835050 66835050 single base substitution T C downstream_gene_variant MELA-AU 16 66835220 66835220 single base substitution C T downstream_gene_variant MELA-AU 16 66835276 66835276 single base substitution C T downstream_gene_variant MELA-AU 16 66835682 66835682 single base substitution G A downstream_gene_variant MELA-AU 16 66835906 66835906 single base substitution G A downstream_gene_variant MELA-AU 16 66835955 66835955 single base substitution G A downstream_gene_variant MELA-AU 16 66836014 66836014 single base substitution G A downstream_gene_variant MELA-AU 16 66837707 66837707 single base substitution G A downstream_gene_variant MELA-AU 16 66837707 66837707 single base substitution G A intron_variant MELA-AU 16 66837860 66837860 single base substitution G A downstream_gene_variant MELA-AU 16 66837860 66837860 single base substitution G A intron_variant MELA-AU 16 66837974 66837974 single base substitution G A downstream_gene_variant MELA-AU 16 66837974 66837974 single base substitution G A intron_variant MELA-AU 16 66838042 66838042 single base substitution G A downstream_gene_variant MELA-AU 16 66838042 66838042 single base substitution G A intron_variant MELA-AU 16 66838318 66838318 single base substitution G A downstream_gene_variant MELA-AU 16 66838318 66838318 single base substitution G A intron_variant MELA-AU 16 66838331 66838331 single base substitution T A downstream_gene_variant MELA-AU 16 66838331 66838331 single base substitution T A intron_variant MELA-AU 16 66838654 66838654 single base substitution G A downstream_gene_variant MELA-AU 16 66838654 66838654 single base substitution G A intron_variant MELA-AU 16 66839387 66839387 single base substitution G A downstream_gene_variant MELA-AU 16 66839387 66839387 single base substitution G A intron_variant MELA-AU 16 66839547 66839547 single base substitution A G exon_variant MELA-AU 16 66839547 66839547 single base substitution A G intron_variant MELA-AU 16 66839671 66839671 single base substitution G A exon_variant MELA-AU 16 66839671 66839671 single base substitution G A intron_variant MELA-AU 16 66839724 66839724 single base substitution C A exon_variant MELA-AU 16 66839724 66839724 single base substitution C A intron_variant MELA-AU 16 66839724 66839724 single base substitution C A missense_variant R395L 1184G>T MELA-AU 16 66839724 66839724 single base substitution C A missense_variant R478L 1433G>T MELA-AU 16 66839724 66839724 single base substitution C A missense_variant R484L 1451G>T MELA-AU 16 66839724 66839724 single base substitution C A missense_variant R487L 1460G>T MELA-AU 16 66839724 66839724 single base substitution C A missense_variant R62L 185G>T MELA-AU 16 66840098 66840098 single base substitution G A intron_variant MELA-AU 16 66840098 66840098 single base substitution G A upstream_gene_variant MELA-AU 16 66840289 66840289 single base substitution G A intron_variant MELA-AU 16 66840289 66840289 single base substitution G A upstream_gene_variant MELA-AU 16 66840408 66840408 single base substitution A T intron_variant MELA-AU 16 66840408 66840408 single base substitution A T upstream_gene_variant MELA-AU 16 66840514 66840514 single base substitution C T intron_variant MELA-AU 16 66840514 66840514 single base substitution C T upstream_gene_variant MELA-AU 16 66840584 66840584 single base substitution G A intron_variant MELA-AU 16 66840584 66840584 single base substitution G A upstream_gene_variant MELA-AU 16 66841855 66841855 single base substitution G A intron_variant MELA-AU 16 66841855 66841855 single base substitution G A upstream_gene_variant MELA-AU 16 66842210 66842210 single base substitution A G downstream_gene_variant MELA-AU 16 66842210 66842210 single base substitution A G intron_variant MELA-AU 16 66842210 66842210 single base substitution A G upstream_gene_variant MELA-AU 16 66842448 66842448 single base substitution G A downstream_gene_variant MELA-AU 16 66842448 66842448 single base substitution G A exon_variant MELA-AU 16 66842448 66842448 single base substitution G A missense_variant H2Y 4C>T MELA-AU 16 66842448 66842448 single base substitution G A missense_variant H347Y 1039C>T MELA-AU 16 66842448 66842448 single base substitution G A missense_variant H430Y 1288C>T MELA-AU 16 66842448 66842448 single base substitution G A missense_variant H436Y 1306C>T MELA-AU 16 66842448 66842448 single base substitution G A missense_variant H439Y 1315C>T MELA-AU 16 66842448 66842448 single base substitution G A missense_variant H67Y 199C>T MELA-AU 16 66842448 66842448 single base substitution G A upstream_gene_variant MELA-AU 16 66842868 66842868 single base substitution G A downstream_gene_variant MELA-AU 16 66842868 66842868 single base substitution G A intron_variant MELA-AU 16 66842868 66842868 single base substitution G A upstream_gene_variant MELA-AU 16 66843398 66843398 single base substitution T C downstream_gene_variant MELA-AU 16 66843398 66843398 single base substitution T C intron_variant MELA-AU 16 66843398 66843398 single base substitution T C upstream_gene_variant MELA-AU 16 66844254 66844254 single base substitution G A downstream_gene_variant MELA-AU 16 66844254 66844254 single base substitution G A intron_variant MELA-AU 16 66844254 66844254 single base substitution G A upstream_gene_variant MELA-AU 16 66844324 66844324 single base substitution G A downstream_gene_variant MELA-AU 16 66844324 66844324 single base substitution G A splice_region_variant MELA-AU 16 66844324 66844324 single base substitution G A upstream_gene_variant MELA-AU 16 66845058 66845058 single base substitution T A downstream_gene_variant MELA-AU 16 66845058 66845058 single base substitution T A intron_variant MELA-AU 16 66845058 66845058 single base substitution T A upstream_gene_variant MELA-AU 16 66845853 66845853 single base substitution G A downstream_gene_variant MELA-AU 16 66845853 66845853 single base substitution G A intron_variant MELA-AU 16 66845853 66845853 single base substitution G A upstream_gene_variant MELA-AU 16 66847160 66847160 single base substitution C T downstream_gene_variant MELA-AU 16 66847160 66847160 single base substitution C T exon_variant MELA-AU 16 66847160 66847160 single base substitution C T intron_variant MELA-AU 16 66847160 66847160 single base substitution C T upstream_gene_variant MELA-AU 16 66847758 66847758 single base substitution G A downstream_gene_variant MELA-AU 16 66847758 66847758 single base substitution G A intron_variant MELA-AU 16 66847758 66847758 single base substitution G A upstream_gene_variant MELA-AU 16 66849157 66849157 single base substitution A G downstream_gene_variant MELA-AU 16 66849157 66849157 single base substitution A G intron_variant MELA-AU 16 66849157 66849157 single base substitution A G upstream_gene_variant MELA-AU 16 66849243 66849243 single base substitution A T downstream_gene_variant MELA-AU 16 66849243 66849243 single base substitution A T intron_variant MELA-AU 16 66849243 66849243 single base substitution A T upstream_gene_variant MELA-AU 16 66850288 66850288 single base substitution G A downstream_gene_variant MELA-AU 16 66850288 66850288 single base substitution G A intron_variant MELA-AU 16 66850303 66850303 single base substitution G A downstream_gene_variant MELA-AU 16 66850303 66850303 single base substitution G A intron_variant MELA-AU 16 66850815 66850815 single base substitution C T 3_prime_UTR_variant MELA-AU 16 66850815 66850815 single base substitution C T downstream_gene_variant MELA-AU 16 66850815 66850815 single base substitution C T intron_variant MELA-AU 16 66850815 66850815 single base substitution C T upstream_gene_variant MELA-AU 16 66851041 66851041 single base substitution T G 3_prime_UTR_variant MELA-AU 16 66851041 66851041 single base substitution T G downstream_gene_variant MELA-AU 16 66851041 66851041 single base substitution T G intron_variant MELA-AU 16 66851041 66851041 single base substitution T G upstream_gene_variant MELA-AU 16 66851231 66851231 single base substitution G A 3_prime_UTR_variant MELA-AU 16 66851231 66851231 single base substitution G A downstream_gene_variant MELA-AU 16 66851231 66851231 single base substitution G A intron_variant MELA-AU 16 66851231 66851231 single base substitution G A upstream_gene_variant MELA-AU 16 66852198 66852198 single base substitution G A downstream_gene_variant MELA-AU 16 66852198 66852198 single base substitution G A intron_variant MELA-AU 16 66852198 66852198 single base substitution G A upstream_gene_variant MELA-AU 16 66852306 66852306 single base substitution G A downstream_gene_variant MELA-AU 16 66852306 66852306 single base substitution G A intron_variant MELA-AU 16 66852306 66852306 single base substitution G A upstream_gene_variant MELA-AU 16 66852564 66852564 single base substitution G A downstream_gene_variant MELA-AU 16 66852564 66852564 single base substitution G A intron_variant MELA-AU 16 66852564 66852564 single base substitution G A upstream_gene_variant MELA-AU 16 66852708 66852708 single base substitution G A downstream_gene_variant MELA-AU 16 66852708 66852708 single base substitution G A intron_variant MELA-AU 16 66852708 66852708 single base substitution G A upstream_gene_variant MELA-AU 16 66854255 66854255 single base substitution G A downstream_gene_variant MELA-AU 16 66854255 66854255 single base substitution G A intron_variant MELA-AU 16 66854255 66854255 single base substitution G A upstream_gene_variant MELA-AU 16 66854712 66854712 single base substitution G A downstream_gene_variant MELA-AU 16 66854712 66854712 single base substitution G A intron_variant MELA-AU 16 66854712 66854712 single base substitution G A upstream_gene_variant MELA-AU 16 66854876 66854876 single base substitution G T downstream_gene_variant MELA-AU 16 66854876 66854876 single base substitution G T intron_variant MELA-AU 16 66854876 66854876 single base substitution G T upstream_gene_variant MELA-AU 16 66855421 66855421 single base substitution A C 3_prime_UTR_variant MELA-AU 16 66855421 66855421 single base substitution A C downstream_gene_variant MELA-AU 16 66855421 66855421 single base substitution A C exon_variant MELA-AU 16 66855421 66855421 single base substitution A C missense_variant I142S 425T>G MELA-AU 16 66855421 66855421 single base substitution A C missense_variant I148S 443T>G MELA-AU 16 66855421 66855421 single base substitution A C missense_variant I151S 452T>G MELA-AU 16 66855421 66855421 single base substitution A C missense_variant I32S 95T>G MELA-AU 16 66855421 66855421 single base substitution A C missense_variant I59S 176T>G MELA-AU 16 66855421 66855421 single base substitution A C upstream_gene_variant MELA-AU 16 66855537 66855537 single base substitution G A downstream_gene_variant MELA-AU 16 66855537 66855537 single base substitution G A intron_variant MELA-AU 16 66855537 66855537 single base substitution G A upstream_gene_variant MELA-AU 16 66855729 66855729 single base substitution T C downstream_gene_variant MELA-AU 16 66855729 66855729 single base substitution T C intron_variant MELA-AU 16 66855822 66855822 single base substitution G A downstream_gene_variant MELA-AU 16 66855822 66855822 single base substitution G A intron_variant MELA-AU 16 66855940 66855940 single base substitution T C downstream_gene_variant MELA-AU 16 66855940 66855940 single base substitution T C intron_variant MELA-AU 16 66856328 66856328 single base substitution G C downstream_gene_variant MELA-AU 16 66856328 66856328 single base substitution G C intron_variant MELA-AU 16 66857321 66857321 single base substitution T C downstream_gene_variant MELA-AU 16 66857321 66857321 single base substitution T C exon_variant MELA-AU 16 66857321 66857321 single base substitution T C intron_variant MELA-AU 16 66857394 66857394 single base substitution A T downstream_gene_variant MELA-AU 16 66857394 66857394 single base substitution A T exon_variant MELA-AU 16 66857394 66857394 single base substitution A T intron_variant MELA-AU 16 66858082 66858082 single base substitution G A downstream_gene_variant MELA-AU 16 66858082 66858082 single base substitution G A intron_variant MELA-AU 16 66858473 66858473 single base substitution G A downstream_gene_variant MELA-AU 16 66858473 66858473 single base substitution G A exon_variant MELA-AU 16 66858473 66858473 single base substitution G A intron_variant MELA-AU 16 66859028 66859028 single base substitution G A downstream_gene_variant MELA-AU 16 66859028 66859028 single base substitution G A intron_variant MELA-AU 16 66859834 66859834 single base substitution G A downstream_gene_variant MELA-AU 16 66859834 66859834 single base substitution G A intron_variant MELA-AU 16 66860999 66860999 single base substitution G A intron_variant MELA-AU 16 66861273 66861273 single base substitution C T intron_variant MELA-AU 16 66862248 66862248 single base substitution A C intron_variant MELA-AU 16 66862321 66862321 single base substitution G A intron_variant MELA-AU 16 66862914 66862914 single base substitution C T intron_variant MELA-AU 16 66863537 66863537 single base substitution C T intron_variant MELA-AU 16 66865060 66865060 single base substitution C T intron_variant MELA-AU 16 66865060 66865060 single base substitution C T upstream_gene_variant MELA-AU 16 66865298 66865298 single base substitution A T intron_variant MELA-AU 16 66865298 66865298 single base substitution A T upstream_gene_variant MELA-AU 16 66865662 66865663 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 66865662 66865663 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 66865753 66865753 single base substitution T A intron_variant MELA-AU 16 66865753 66865753 single base substitution T A upstream_gene_variant MELA-AU 16 66866211 66866212 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 66866211 66866212 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 66866291 66866291 single base substitution C T intron_variant MELA-AU 16 66866291 66866291 single base substitution C T upstream_gene_variant MELA-AU 16 66866303 66866303 single base substitution C T intron_variant MELA-AU 16 66866303 66866303 single base substitution C T upstream_gene_variant MELA-AU 16 66866389 66866389 single base substitution C T intron_variant MELA-AU 16 66866389 66866389 single base substitution C T upstream_gene_variant MELA-AU 16 66866643 66866643 single base substitution G A intron_variant MELA-AU 16 66866643 66866643 single base substitution G A upstream_gene_variant MELA-AU 16 66867787 66867787 single base substitution C T intron_variant MELA-AU 16 66867787 66867787 single base substitution C T upstream_gene_variant MELA-AU 16 66867971 66867971 single base substitution C T intron_variant MELA-AU 16 66867971 66867971 single base substitution C T upstream_gene_variant MELA-AU 16 66868370 66868370 single base substitution T C intron_variant MELA-AU 16 66868370 66868370 single base substitution T C upstream_gene_variant MELA-AU 16 66868761 66868761 single base substitution G A intron_variant MELA-AU 16 66868761 66868761 single base substitution G A upstream_gene_variant MELA-AU 16 66868960 66868960 single base substitution A C intron_variant MELA-AU 16 66868960 66868960 single base substitution A C upstream_gene_variant MELA-AU 16 66869258 66869258 single base substitution G A intron_variant MELA-AU 16 66869258 66869258 single base substitution G A upstream_gene_variant MELA-AU 16 66869589 66869589 single base substitution G A intron_variant MELA-AU 16 66869589 66869589 single base substitution G A upstream_gene_variant MELA-AU 16 66869673 66869673 single base substitution C G intron_variant MELA-AU 16 66869673 66869673 single base substitution C G upstream_gene_variant MELA-AU 16 66869722 66869722 single base substitution C T intron_variant MELA-AU 16 66869722 66869722 single base substitution C T upstream_gene_variant MELA-AU 16 66869768 66869768 single base substitution G A intron_variant MELA-AU 16 66869768 66869768 single base substitution G A upstream_gene_variant MELA-AU 16 66869931 66869931 single base substitution C T intron_variant MELA-AU 16 66871027 66871027 single base substitution G A intron_variant MELA-AU 16 66871134 66871135 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 16 66871142 66871142 single base substitution C T intron_variant MELA-AU 16 66871399 66871399 single base substitution C T intron_variant MELA-AU 16 66871804 66871804 single base substitution G A intron_variant MELA-AU 16 66872202 66872202 single base substitution G A intron_variant MELA-AU 16 66872541 66872541 single base substitution C T intron_variant MELA-AU 16 66872662 66872662 single base substitution G A intron_variant MELA-AU 16 66872885 66872885 single base substitution G A intron_variant MELA-AU 16 66872959 66872959 single base substitution A T intron_variant MELA-AU 16 66872998 66872998 single base substitution G A intron_variant MELA-AU 16 66873040 66873040 single base substitution G A intron_variant MELA-AU 16 66873475 66873475 single base substitution A C intron_variant MELA-AU 16 66873628 66873628 single base substitution C T intron_variant MELA-AU 16 66873769 66873769 single base substitution G A intron_variant MELA-AU 16 66874165 66874165 single base substitution G A intron_variant MELA-AU 16 66874419 66874419 single base substitution G A intron_variant MELA-AU 16 66874509 66874509 single base substitution G A intron_variant MELA-AU 16 66874674 66874674 single base substitution T G intron_variant MELA-AU 16 66874847 66874847 single base substitution C T intron_variant MELA-AU 16 66874873 66874873 single base substitution G A intron_variant MELA-AU 16 66874989 66874989 single base substitution C T intron_variant MELA-AU 16 66875862 66875862 single base substitution G A intron_variant MELA-AU 16 66876153 66876153 single base substitution C T intron_variant MELA-AU 16 66876445 66876445 single base substitution C T intron_variant MELA-AU 16 66876604 66876604 single base substitution G A intron_variant MELA-AU 16 66876633 66876633 single base substitution C T intron_variant MELA-AU 16 66876808 66876808 single base substitution G T intron_variant MELA-AU 16 66876831 66876831 single base substitution C T intron_variant MELA-AU 16 66877153 66877153 single base substitution C T intron_variant MELA-AU 16 66877242 66877242 single base substitution C T intron_variant MELA-AU 16 66877442 66877442 single base substitution T C intron_variant MELA-AU 16 66877510 66877510 single base substitution T G intron_variant MELA-AU 16 66878094 66878094 single base substitution G A intron_variant MELA-AU 16 66879229 66879229 single base substitution G A intron_variant MELA-AU 16 66879243 66879243 single base substitution C T intron_variant MELA-AU 16 66879434 66879435 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 66880542 66880542 single base substitution C A intron_variant MELA-AU 16 66880860 66880860 single base substitution C T intron_variant MELA-AU 16 66881519 66881519 single base substitution G A intron_variant MELA-AU 16 66881659 66881659 single base substitution C T intron_variant MELA-AU 16 66881740 66881740 single base substitution G T intron_variant MELA-AU 16 66882242 66882242 single base substitution C T intron_variant MELA-AU 16 66882693 66882694 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 66882792 66882792 single base substitution G A intron_variant MELA-AU 16 66882793 66882793 single base substitution G A intron_variant MELA-AU 16 66882843 66882843 single base substitution C G intron_variant MELA-AU 16 66883068 66883068 single base substitution G A intron_variant MELA-AU 16 66883244 66883244 single base substitution C T intron_variant MELA-AU 16 66883608 66883608 single base substitution A T intron_variant MELA-AU 16 66883660 66883661 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 66883753 66883753 single base substitution C T intron_variant MELA-AU 16 66884600 66884600 single base substitution G A intron_variant MELA-AU 16 66884606 66884606 single base substitution G A intron_variant MELA-AU 16 66884666 66884666 single base substitution G A intron_variant MELA-AU 16 66884693 66884693 single base substitution G A intron_variant MELA-AU 16 66884742 66884742 single base substitution C T intron_variant MELA-AU 16 66884795 66884795 single base substitution A C intron_variant MELA-AU 16 66885008 66885008 single base substitution C T intron_variant MELA-AU 16 66885147 66885147 single base substitution C T intron_variant MELA-AU 16 66885177 66885177 single base substitution G A intron_variant MELA-AU 16 66885290 66885290 single base substitution G A intron_variant MELA-AU 16 66885291 66885291 single base substitution G A intron_variant MELA-AU 16 66885330 66885330 single base substitution G A intron_variant MELA-AU 16 66885338 66885338 single base substitution G A intron_variant MELA-AU 16 66885433 66885433 single base substitution G A intron_variant MELA-AU 16 66885651 66885651 single base substitution C A intron_variant MELA-AU 16 66885831 66885831 single base substitution G A intron_variant MELA-AU 16 66885902 66885902 single base substitution G A intron_variant MELA-AU 16 66885934 66885934 single base substitution C T intron_variant MELA-AU 16 66886260 66886260 single base substitution G A intron_variant MELA-AU 16 66886261 66886261 single base substitution G A intron_variant MELA-AU 16 66886343 66886343 single base substitution G A intron_variant MELA-AU 16 66886438 66886438 single base substitution G A intron_variant MELA-AU 16 66886469 66886469 single base substitution G A intron_variant MELA-AU 16 66886471 66886471 single base substitution A G intron_variant MELA-AU 16 66886475 66886475 single base substitution G A intron_variant MELA-AU 16 66886574 66886574 single base substitution G A intron_variant MELA-AU 16 66886611 66886611 single base substitution C T intron_variant MELA-AU 16 66886815 66886815 single base substitution G A intron_variant MELA-AU 16 66886984 66886984 single base substitution C T intron_variant MELA-AU 16 66886985 66886985 single base substitution C T intron_variant MELA-AU 16 66886997 66886997 single base substitution C T intron_variant MELA-AU 16 66887149 66887149 single base substitution G A intron_variant MELA-AU 16 66887599 66887599 single base substitution G A intron_variant MELA-AU 16 66887799 66887799 single base substitution G A intron_variant MELA-AU 16 66887817 66887817 single base substitution G A intron_variant MELA-AU 16 66888320 66888320 single base substitution C G intron_variant MELA-AU 16 66888450 66888450 single base substitution G A intron_variant MELA-AU 16 66888543 66888543 single base substitution G A intron_variant MELA-AU 16 66888779 66888779 single base substitution C T intron_variant MELA-AU 16 66888786 66888786 single base substitution G A intron_variant MELA-AU 16 66888852 66888852 single base substitution G A intron_variant MELA-AU 16 66888938 66888938 single base substitution G A intron_variant MELA-AU 16 66888971 66888971 single base substitution G A intron_variant MELA-AU 16 66889052 66889052 single base substitution G A intron_variant MELA-AU 16 66889236 66889236 single base substitution G A intron_variant MELA-AU 16 66889442 66889442 single base substitution G A intron_variant MELA-AU 16 66889553 66889553 single base substitution A C intron_variant MELA-AU 16 66889641 66889641 single base substitution G A intron_variant MELA-AU 16 66889689 66889690 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 66889771 66889771 single base substitution G A intron_variant MELA-AU 16 66889849 66889849 single base substitution C T intron_variant MELA-AU 16 66890038 66890038 single base substitution G A intron_variant MELA-AU 16 66890092 66890092 single base substitution G A intron_variant MELA-AU 16 66890154 66890154 single base substitution G A intron_variant MELA-AU 16 66890298 66890298 single base substitution G A intron_variant MELA-AU 16 66890437 66890438 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 66890438 66890438 single base substitution G A intron_variant MELA-AU 16 66890481 66890481 single base substitution G A intron_variant MELA-AU 16 66890704 66890704 single base substitution G A intron_variant MELA-AU 16 66890748 66890748 single base substitution C T intron_variant MELA-AU 16 66890767 66890767 single base substitution G A intron_variant MELA-AU 16 66890896 66890896 single base substitution G A intron_variant MELA-AU 16 66891121 66891121 single base substitution G A intron_variant MELA-AU 16 66891569 66891570 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 66891636 66891636 single base substitution C T intron_variant MELA-AU 16 66891841 66891841 single base substitution C T intron_variant MELA-AU 16 66892524 66892524 single base substitution G T intron_variant MELA-AU 16 66892526 66892526 single base substitution G A intron_variant MELA-AU 16 66892541 66892541 single base substitution G A intron_variant MELA-AU 16 66892549 66892549 single base substitution C T intron_variant MELA-AU 16 66893555 66893555 single base substitution G A intron_variant MELA-AU 16 66893973 66893973 single base substitution C T intron_variant MELA-AU 16 66894005 66894005 single base substitution G A intron_variant MELA-AU 16 66894044 66894044 single base substitution C T intron_variant MELA-AU 16 66894103 66894103 single base substitution G A intron_variant MELA-AU 16 66894223 66894223 single base substitution C G intron_variant MELA-AU 16 66894245 66894245 single base substitution G A intron_variant MELA-AU 16 66894598 66894598 single base substitution G A intron_variant MELA-AU 16 66894769 66894769 single base substitution G A intron_variant MELA-AU 16 66895022 66895022 single base substitution G A intron_variant MELA-AU 16 66895209 66895209 single base substitution C T intron_variant MELA-AU 16 66895500 66895500 single base substitution G A intron_variant MELA-AU 16 66895612 66895612 single base substitution C T intron_variant MELA-AU 16 66895786 66895786 single base substitution C T intron_variant MELA-AU 16 66895842 66895842 single base substitution G A intron_variant MELA-AU 16 66895962 66895962 single base substitution C T intron_variant MELA-AU 16 66896006 66896006 single base substitution G A intron_variant MELA-AU 16 66896013 66896013 single base substitution C T intron_variant MELA-AU 16 66897320 66897320 single base substitution C T intron_variant MELA-AU 16 66897403 66897403 single base substitution G A intron_variant MELA-AU 16 66897857 66897857 single base substitution C T intron_variant MELA-AU 16 66897974 66897974 single base substitution C T intron_variant MELA-AU 16 66898511 66898511 single base substitution G A intron_variant MELA-AU 16 66898518 66898518 single base substitution C T intron_variant MELA-AU 16 66898756 66898756 single base substitution G C intron_variant MELA-AU 16 66898941 66898941 single base substitution G A intron_variant MELA-AU 16 66898981 66898981 single base substitution C T intron_variant MELA-AU 16 66899288 66899288 single base substitution G A intron_variant MELA-AU 16 66899292 66899292 single base substitution C T intron_variant MELA-AU 16 66899829 66899829 single base substitution A C intron_variant MELA-AU 16 66900726 66900726 single base substitution G A intron_variant MELA-AU 16 66901053 66901053 single base substitution G A intron_variant MELA-AU 16 66901111 66901111 single base substitution T C intron_variant MELA-AU 16 66901224 66901224 single base substitution G A intron_variant MELA-AU 16 66901416 66901416 single base substitution G A intron_variant MELA-AU 16 66901737 66901737 single base substitution C T intron_variant MELA-AU 16 66902194 66902194 single base substitution G A intron_variant MELA-AU 16 66903191 66903191 single base substitution T C intron_variant MELA-AU 16 66903418 66903418 single base substitution C T intron_variant MELA-AU 16 66903991 66903991 single base substitution T C intron_variant MELA-AU 16 66904489 66904489 single base substitution G A intron_variant MELA-AU 16 66904498 66904498 single base substitution A T intron_variant MELA-AU 16 66905225 66905225 single base substitution C T intron_variant MELA-AU 16 66905752 66905752 single base substitution G A intron_variant MELA-AU 16 66905813 66905813 single base substitution C T intron_variant MELA-AU 16 66905889 66905889 single base substitution G A intron_variant MELA-AU 16 66905943 66905943 single base substitution C T intron_variant MELA-AU 16 66906077 66906077 single base substitution C T intron_variant MELA-AU 16 66906200 66906200 single base substitution C T intron_variant MELA-AU 16 66906498 66906498 single base substitution G A intron_variant MELA-AU 16 66906499 66906499 single base substitution G A intron_variant MELA-AU 16 66906789 66906789 single base substitution G A intron_variant MELA-AU 16 66908497 66908497 single base substitution A T upstream_gene_variant MELA-AU 16 66908822 66908822 single base substitution T C upstream_gene_variant MELA-AU 16 66909368 66909368 single base substitution G A upstream_gene_variant MELA-AU 16 66909785 66909785 single base substitution A G upstream_gene_variant MELA-AU 16 66909876 66909876 single base substitution T C upstream_gene_variant MELA-AU 16 66910251 66910251 single base substitution A G upstream_gene_variant MELA-AU 16 66910401 66910401 single base substitution C T upstream_gene_variant MELA-AU 16 66910687 66910687 single base substitution G A upstream_gene_variant MELA-AU 16 66910691 66910691 single base substitution G A upstream_gene_variant MELA-AU 16 66911017 66911017 single base substitution G T upstream_gene_variant MELA-AU 16 66911174 66911174 single base substitution G A upstream_gene_variant MELA-AU 16 66911258 66911258 single base substitution C T upstream_gene_variant MELA-AU 16 66911336 66911336 single base substitution C T upstream_gene_variant MELA-AU 16 66911449 66911449 single base substitution G A upstream_gene_variant MELA-AU 16 66912082 66912082 single base substitution T A upstream_gene_variant ORCA-IN 16 66844292 66844292 single base substitution C A downstream_gene_variant ORCA-IN 16 66844292 66844292 single base substitution C A stop_gained E10* 28G>T ORCA-IN 16 66844292 66844292 single base substitution C A stop_gained E290* 868G>T ORCA-IN 16 66844292 66844292 single base substitution C A stop_gained E373* 1117G>T ORCA-IN 16 66844292 66844292 single base substitution C A stop_gained E379* 1135G>T ORCA-IN 16 66844292 66844292 single base substitution C A stop_gained E382* 1144G>T ORCA-IN 16 66844292 66844292 single base substitution C A upstream_gene_variant ORCA-IN 16 66857477 66857477 single base substitution G A 3_prime_UTR_variant ORCA-IN 16 66857477 66857477 single base substitution G A downstream_gene_variant ORCA-IN 16 66857477 66857477 single base substitution G A exon_variant ORCA-IN 16 66857477 66857477 single base substitution G A intron_variant ORCA-IN 16 66857477 66857477 single base substitution G A synonymous_variant F127F 381C>T ORCA-IN 16 66857477 66857477 single base substitution G A synonymous_variant F3F 9C>T ORCA-IN 16 66857477 66857477 single base substitution G A synonymous_variant F86F 258C>T ORCA-IN 16 66857477 66857477 single base substitution G A synonymous_variant F92F 276C>T ORCA-IN 16 66857477 66857477 single base substitution G A synonymous_variant F95F 285C>T ORCA-IN 16 66884460 66884460 single base substitution C A intron_variant ORCA-IN 16 66895551 66895551 single base substitution C T intron_variant ORCA-IN 16 66901776 66901776 single base substitution C G intron_variant OV-AU 16 66832223 66832223 single base substitution C T downstream_gene_variant OV-AU 16 66834870 66834870 single base substitution G C downstream_gene_variant OV-AU 16 66853223 66853223 single base substitution C T downstream_gene_variant OV-AU 16 66853223 66853223 single base substitution C T intron_variant OV-AU 16 66853223 66853223 single base substitution C T upstream_gene_variant OV-AU 16 66855613 66855613 single base substitution G C downstream_gene_variant OV-AU 16 66855613 66855613 single base substitution G C intron_variant OV-AU 16 66855613 66855613 single base substitution G C upstream_gene_variant OV-AU 16 66870016 66870016 single base substitution G A intron_variant OV-AU 16 66870656 66870656 single base substitution C A intron_variant OV-AU 16 66872337 66872337 single base substitution A G intron_variant OV-AU 16 66876037 66876037 single base substitution C T intron_variant OV-AU 16 66877753 66877753 single base substitution G C intron_variant OV-AU 16 66879595 66879595 single base substitution C G intron_variant OV-AU 16 66882819 66882819 single base substitution C A intron_variant OV-AU 16 66883023 66883023 single base substitution C G intron_variant OV-AU 16 66883906 66883906 single base substitution C T intron_variant OV-AU 16 66886454 66886454 single base substitution A G intron_variant OV-AU 16 66886663 66886663 single base substitution G C intron_variant OV-AU 16 66892101 66892101 single base substitution G A intron_variant OV-AU 16 66901147 66901147 single base substitution G T intron_variant OV-AU 16 66903668 66903668 single base substitution G T intron_variant OV-AU 16 66905789 66905789 single base substitution G A intron_variant OV-AU 16 66907572 66907572 single base substitution C A upstream_gene_variant OV-AU 16 66909603 66909603 single base substitution G C upstream_gene_variant OV-AU 16 66909621 66909621 single base substitution G T upstream_gene_variant PACA-AU 16 66838272 66838272 single base substitution C A downstream_gene_variant PACA-AU 16 66838272 66838272 single base substitution C A intron_variant PACA-AU 16 66839643 66839643 single base substitution G A exon_variant PACA-AU 16 66839643 66839643 single base substitution G A intron_variant PACA-AU 16 66840332 66840332 single base substitution T A intron_variant PACA-AU 16 66840332 66840332 single base substitution T A upstream_gene_variant PACA-AU 16 66844990 66844990 single base substitution G C downstream_gene_variant PACA-AU 16 66844990 66844990 single base substitution G C intron_variant PACA-AU 16 66844990 66844990 single base substitution G C upstream_gene_variant PACA-AU 16 66845194 66845194 single base substitution G A downstream_gene_variant PACA-AU 16 66845194 66845194 single base substitution G A intron_variant PACA-AU 16 66845194 66845194 single base substitution G A upstream_gene_variant PACA-AU 16 66849374 66849374 single base substitution C A downstream_gene_variant PACA-AU 16 66849374 66849374 single base substitution C A intron_variant PACA-AU 16 66849374 66849374 single base substitution C A upstream_gene_variant PACA-AU 16 66849898 66849898 single base substitution A G downstream_gene_variant PACA-AU 16 66849898 66849898 single base substitution A G intron_variant PACA-AU 16 66850359 66850359 single base substitution C T downstream_gene_variant PACA-AU 16 66850359 66850359 single base substitution C T intron_variant PACA-AU 16 66852577 66852577 single base substitution C G downstream_gene_variant PACA-AU 16 66852577 66852577 single base substitution C G intron_variant PACA-AU 16 66852577 66852577 single base substitution C G upstream_gene_variant PACA-AU 16 66852859 66852859 single base substitution G A downstream_gene_variant PACA-AU 16 66852859 66852859 single base substitution G A intron_variant PACA-AU 16 66852859 66852859 single base substitution G A upstream_gene_variant PACA-AU 16 66853536 66853536 single base substitution A G downstream_gene_variant PACA-AU 16 66853536 66853536 single base substitution A G intron_variant PACA-AU 16 66853536 66853536 single base substitution A G upstream_gene_variant PACA-AU 16 66861735 66861735 single base substitution C T intron_variant PACA-AU 16 66868740 66868740 single base substitution A C intron_variant PACA-AU 16 66868740 66868740 single base substitution A C upstream_gene_variant PACA-AU 16 66872094 66872119 deletion of <=200bp CAGCATCCCTTTATGATTCAAACTCT - intron_variant PACA-AU 16 66872546 66872546 single base substitution T C intron_variant PACA-AU 16 66876172 66876172 single base substitution T G intron_variant PACA-AU 16 66878548 66878548 single base substitution C T intron_variant PACA-AU 16 66882645 66882645 single base substitution G C intron_variant PACA-AU 16 66882646 66882646 single base substitution G T intron_variant PACA-AU 16 66883220 66883220 single base substitution T G intron_variant PACA-AU 16 66887002 66887002 single base substitution G A intron_variant PACA-AU 16 66887311 66887311 single base substitution G A intron_variant PACA-AU 16 66887374 66887374 single base substitution C T intron_variant PACA-AU 16 66888186 66888186 single base substitution T A intron_variant PACA-AU 16 66888509 66888509 single base substitution C T intron_variant PACA-AU 16 66889195 66889195 single base substitution A G intron_variant PACA-AU 16 66892964 66892964 single base substitution G A intron_variant PACA-AU 16 66895123 66895123 single base substitution A G intron_variant PACA-AU 16 66898369 66898369 deletion of <=200bp A - intron_variant PACA-AU 16 66900299 66900299 single base substitution C T intron_variant PACA-AU 16 66901515 66901515 single base substitution C G intron_variant PACA-AU 16 66903134 66903134 single base substitution T C intron_variant PACA-AU 16 66903269 66903269 single base substitution T A intron_variant PACA-AU 16 66906451 66906451 single base substitution T A intron_variant PACA-AU 16 66906731 66906731 insertion of <=200bp - TG intron_variant PACA-AU 16 66907259 66907259 single base substitution G C upstream_gene_variant PACA-CA 16 66834033 66834033 single base substitution G A downstream_gene_variant PACA-CA 16 66835984 66835984 single base substitution G A downstream_gene_variant PACA-CA 16 66836222 66836222 deletion of <=200bp T - downstream_gene_variant PACA-CA 16 66843144 66843144 single base substitution G A downstream_gene_variant PACA-CA 16 66843144 66843144 single base substitution G A intron_variant PACA-CA 16 66843144 66843144 single base substitution G A upstream_gene_variant PACA-CA 16 66843433 66843433 single base substitution T C downstream_gene_variant PACA-CA 16 66843433 66843433 single base substitution T C intron_variant PACA-CA 16 66843433 66843433 single base substitution T C upstream_gene_variant PACA-CA 16 66845706 66845706 single base substitution A G downstream_gene_variant PACA-CA 16 66845706 66845706 single base substitution A G intron_variant PACA-CA 16 66845706 66845706 single base substitution A G upstream_gene_variant PACA-CA 16 66846882 66846882 single base substitution C T downstream_gene_variant PACA-CA 16 66846882 66846882 single base substitution C T intron_variant PACA-CA 16 66846882 66846882 single base substitution C T upstream_gene_variant PACA-CA 16 66848065 66848065 single base substitution G A downstream_gene_variant PACA-CA 16 66848065 66848065 single base substitution G A intron_variant PACA-CA 16 66848065 66848065 single base substitution G A upstream_gene_variant PACA-CA 16 66851314 66851314 single base substitution A T 3_prime_UTR_variant PACA-CA 16 66851314 66851314 single base substitution A T downstream_gene_variant PACA-CA 16 66851314 66851314 single base substitution A T intron_variant PACA-CA 16 66851314 66851314 single base substitution A T upstream_gene_variant PACA-CA 16 66856581 66856581 single base substitution T A downstream_gene_variant PACA-CA 16 66856581 66856581 single base substitution T A intron_variant PACA-CA 16 66859537 66859537 single base substitution G C downstream_gene_variant PACA-CA 16 66859537 66859537 single base substitution G C intron_variant PACA-CA 16 66859566 66859566 single base substitution G A downstream_gene_variant PACA-CA 16 66859566 66859566 single base substitution G A intron_variant PACA-CA 16 66862641 66862641 single base substitution T A intron_variant PACA-CA 16 66865039 66865039 single base substitution C T intron_variant PACA-CA 16 66865039 66865039 single base substitution C T upstream_gene_variant PACA-CA 16 66865385 66865385 single base substitution G A intron_variant PACA-CA 16 66865385 66865385 single base substitution G A upstream_gene_variant PACA-CA 16 66867108 66867108 single base substitution A C intron_variant PACA-CA 16 66867108 66867108 single base substitution A C upstream_gene_variant PACA-CA 16 66869012 66869012 single base substitution C T intron_variant PACA-CA 16 66869012 66869012 single base substitution C T upstream_gene_variant PACA-CA 16 66869332 66869332 single base substitution T C intron_variant PACA-CA 16 66869332 66869332 single base substitution T C upstream_gene_variant PACA-CA 16 66870504 66870504 single base substitution A T intron_variant PACA-CA 16 66873187 66873187 single base substitution C G intron_variant PACA-CA 16 66875035 66875035 deletion of <=200bp C - intron_variant PACA-CA 16 66875355 66875355 single base substitution G T intron_variant PACA-CA 16 66875774 66875774 single base substitution T C intron_variant PACA-CA 16 66876370 66876370 single base substitution C A intron_variant PACA-CA 16 66885239 66885239 single base substitution C A intron_variant PACA-CA 16 66886115 66886115 single base substitution C T intron_variant PACA-CA 16 66886508 66886517 deletion of <=200bp AAGAAAAAAG - intron_variant PACA-CA 16 66887227 66887227 single base substitution G A intron_variant PACA-CA 16 66897342 66897342 single base substitution C T intron_variant PACA-CA 16 66899273 66899273 single base substitution C T intron_variant PACA-CA 16 66899515 66899515 single base substitution C T intron_variant PACA-CA 16 66906450 66906450 insertion of <=200bp - T intron_variant PACA-CA 16 66906450 66906450 single base substitution A T intron_variant PACA-CA 16 66908785 66908785 single base substitution C T upstream_gene_variant PACA-CA 16 66910606 66910606 single base substitution A G upstream_gene_variant PAEN-AU 16 66867855 66867855 single base substitution G T intron_variant PAEN-AU 16 66867855 66867855 single base substitution G T upstream_gene_variant PAEN-AU 16 66884414 66884414 single base substitution C A intron_variant PAEN-AU 16 66886454 66886454 single base substitution A G intron_variant PAEN-AU 16 66895116 66895116 single base substitution G A intron_variant PAEN-IT 16 66832376 66832376 single base substitution T C downstream_gene_variant PAEN-IT 16 66871032 66871032 single base substitution T G intron_variant PBCA-DE 16 66836625 66836625 single base substitution T A downstream_gene_variant PBCA-DE 16 66870666 66870666 deletion of <=200bp A - intron_variant PBCA-DE 16 66873737 66873737 single base substitution C T intron_variant PBCA-DE 16 66874554 66874554 single base substitution G A intron_variant PBCA-DE 16 66877874 66877874 single base substitution G A intron_variant PBCA-DE 16 66881606 66881606 single base substitution A G intron_variant PBCA-DE 16 66895416 66895416 single base substitution C T intron_variant PBCA-DE 16 66905177 66905177 single base substitution A G intron_variant PRAD-CA 16 66838145 66838145 single base substitution C A downstream_gene_variant PRAD-CA 16 66838145 66838145 single base substitution C A intron_variant PRAD-CA 16 66874574 66874574 single base substitution A C intron_variant PRAD-CA 16 66875627 66875627 single base substitution C A intron_variant PRAD-CA 16 66895119 66895119 single base substitution G A intron_variant PRAD-UK 16 66850705 66850705 single base substitution C A 3_prime_UTR_variant PRAD-UK 16 66850705 66850705 single base substitution C A downstream_gene_variant PRAD-UK 16 66850705 66850705 single base substitution C A intron_variant PRAD-UK 16 66850705 66850705 single base substitution C A upstream_gene_variant PRAD-UK 16 66866904 66866904 single base substitution G A intron_variant PRAD-UK 16 66866904 66866904 single base substitution G A upstream_gene_variant PRAD-UK 16 66875028 66875028 single base substitution C T intron_variant PRAD-UK 16 66886265 66886265 single base substitution C T intron_variant PRAD-UK 16 66886366 66886366 insertion of <=200bp - A intron_variant PRAD-UK 16 66888402 66888415 multiple base substitution (>=2bp and <=200bp) AATCCCAGCTGCTC ACACCTG intron_variant PRAD-UK 16 66889028 66889028 single base substitution C T intron_variant PRAD-UK 16 66895864 66895864 single base substitution G C intron_variant PRAD-UK 16 66909863 66909863 single base substitution C T upstream_gene_variant PRAD-US 16 66852502 66852502 single base substitution G A 3_prime_UTR_variant PRAD-US 16 66852502 66852502 single base substitution G A downstream_gene_variant PRAD-US 16 66852502 66852502 single base substitution G A stop_gained R178* 532C>T PRAD-US 16 66852502 66852502 single base substitution G A stop_gained R184* 550C>T PRAD-US 16 66852502 66852502 single base substitution G A stop_gained R187* 559C>T PRAD-US 16 66852502 66852502 single base substitution G A stop_gained R68* 202C>T PRAD-US 16 66852502 66852502 single base substitution G A stop_gained R95* 283C>T PRAD-US 16 66852502 66852502 single base substitution G A upstream_gene_variant READ-US 16 66852454 66852454 single base substitution C A 3_prime_UTR_variant READ-US 16 66852454 66852454 single base substitution C A downstream_gene_variant READ-US 16 66852454 66852454 single base substitution C A missense_variant D111Y 331G>T READ-US 16 66852454 66852454 single base substitution C A missense_variant D194Y 580G>T READ-US 16 66852454 66852454 single base substitution C A missense_variant D200Y 598G>T READ-US 16 66852454 66852454 single base substitution C A missense_variant D203Y 607G>T READ-US 16 66852454 66852454 single base substitution C A missense_variant D84Y 250G>T READ-US 16 66852454 66852454 single base substitution C A upstream_gene_variant READ-US 16 66857504 66857504 single base substitution C A downstream_gene_variant READ-US 16 66857504 66857504 single base substitution C A intron_variant READ-US 16 66857504 66857504 single base substitution C A splice_acceptor_variant RECA-EU 16 66832134 66832134 single base substitution G A downstream_gene_variant RECA-EU 16 66867368 66867368 single base substitution C T intron_variant RECA-EU 16 66867368 66867368 single base substitution C T upstream_gene_variant RECA-EU 16 66867497 66867497 single base substitution G A intron_variant RECA-EU 16 66867497 66867497 single base substitution G A upstream_gene_variant RECA-EU 16 66869400 66869400 single base substitution T A intron_variant RECA-EU 16 66869400 66869400 single base substitution T A upstream_gene_variant RECA-EU 16 66872012 66872012 single base substitution C A intron_variant RECA-EU 16 66873318 66873318 single base substitution C A intron_variant RECA-EU 16 66882125 66882125 single base substitution A G intron_variant RECA-EU 16 66890372 66890372 single base substitution G A intron_variant RECA-EU 16 66891117 66891117 single base substitution C T intron_variant RECA-EU 16 66895103 66895103 single base substitution G A intron_variant RECA-EU 16 66899054 66899054 single base substitution T A intron_variant RECA-EU 16 66899612 66899612 single base substitution C T intron_variant RECA-EU 16 66907231 66907231 single base substitution G T upstream_gene_variant RECA-EU 16 66910965 66910965 single base substitution C A upstream_gene_variant SKCA-BR 16 66832085 66832085 insertion of <=200bp - CTT downstream_gene_variant SKCA-BR 16 66833528 66833528 single base substitution T A downstream_gene_variant SKCA-BR 16 66833825 66833825 single base substitution T G downstream_gene_variant SKCA-BR 16 66835370 66835372 deletion of <=200bp CAG - downstream_gene_variant SKCA-BR 16 66835762 66835762 single base substitution G A downstream_gene_variant SKCA-BR 16 66836094 66836094 single base substitution G A downstream_gene_variant SKCA-BR 16 66836476 66836476 single base substitution G A downstream_gene_variant SKCA-BR 16 66838085 66838085 single base substitution G A downstream_gene_variant SKCA-BR 16 66838085 66838085 single base substitution G A intron_variant SKCA-BR 16 66839049 66839049 single base substitution G A downstream_gene_variant SKCA-BR 16 66839049 66839049 single base substitution G A intron_variant SKCA-BR 16 66839823 66839823 single base substitution G A exon_variant SKCA-BR 16 66839823 66839823 single base substitution G A synonymous_variant V110V 330C>T SKCA-BR 16 66839823 66839823 single base substitution G A synonymous_variant V390V 1170C>T SKCA-BR 16 66839823 66839823 single base substitution G A synonymous_variant V45V 135C>T SKCA-BR 16 66839823 66839823 single base substitution G A synonymous_variant V473V 1419C>T SKCA-BR 16 66839823 66839823 single base substitution G A synonymous_variant V479V 1437C>T SKCA-BR 16 66839823 66839823 single base substitution G A synonymous_variant V482V 1446C>T SKCA-BR 16 66841451 66841451 single base substitution G A intron_variant SKCA-BR 16 66841451 66841451 single base substitution G A upstream_gene_variant SKCA-BR 16 66841547 66841547 insertion of <=200bp - GA intron_variant SKCA-BR 16 66841547 66841547 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 16 66842419 66842419 single base substitution C T downstream_gene_variant SKCA-BR 16 66842419 66842419 single base substitution C T intron_variant SKCA-BR 16 66842419 66842419 single base substitution C T splice_region_variant SKCA-BR 16 66842419 66842419 single base substitution C T upstream_gene_variant SKCA-BR 16 66846834 66846834 single base substitution T C downstream_gene_variant SKCA-BR 16 66846834 66846834 single base substitution T C intron_variant SKCA-BR 16 66846834 66846834 single base substitution T C upstream_gene_variant SKCA-BR 16 66848511 66848511 insertion of <=200bp - AAAATAC downstream_gene_variant SKCA-BR 16 66848511 66848511 insertion of <=200bp - AAAATAC intron_variant SKCA-BR 16 66848511 66848511 insertion of <=200bp - AAAATAC upstream_gene_variant SKCA-BR 16 66849997 66849997 single base substitution A G downstream_gene_variant SKCA-BR 16 66849997 66849997 single base substitution A G intron_variant SKCA-BR 16 66850807 66850807 single base substitution A C 3_prime_UTR_variant SKCA-BR 16 66850807 66850807 single base substitution A C downstream_gene_variant SKCA-BR 16 66850807 66850807 single base substitution A C intron_variant SKCA-BR 16 66850807 66850807 single base substitution A C upstream_gene_variant SKCA-BR 16 66853212 66853212 single base substitution G A downstream_gene_variant SKCA-BR 16 66853212 66853212 single base substitution G A intron_variant SKCA-BR 16 66853212 66853212 single base substitution G A upstream_gene_variant SKCA-BR 16 66856572 66856573 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 16 66856572 66856573 deletion of <=200bp TA - intron_variant SKCA-BR 16 66860622 66860622 single base substitution T G 3_prime_UTR_variant SKCA-BR 16 66860622 66860622 single base substitution T G 5_prime_UTR_variant SKCA-BR 16 66860622 66860622 single base substitution T G exon_variant SKCA-BR 16 66860622 66860622 single base substitution T G intron_variant SKCA-BR 16 66860622 66860622 single base substitution T G missense_variant T33P 97A>C SKCA-BR 16 66860622 66860622 single base substitution T G missense_variant T39P 115A>C SKCA-BR 16 66860622 66860622 single base substitution T G missense_variant T74P 220A>C SKCA-BR 16 66863295 66863295 single base substitution G T intron_variant SKCA-BR 16 66864553 66864553 single base substitution A G intron_variant SKCA-BR 16 66865559 66865574 deletion of <=200bp GTGTTTTGTTTTGTTT - intron_variant SKCA-BR 16 66865559 66865574 deletion of <=200bp GTGTTTTGTTTTGTTT - upstream_gene_variant SKCA-BR 16 66867015 66867015 single base substitution C T intron_variant SKCA-BR 16 66867015 66867015 single base substitution C T upstream_gene_variant SKCA-BR 16 66871515 66871515 single base substitution G A intron_variant SKCA-BR 16 66873061 66873061 single base substitution G A intron_variant SKCA-BR 16 66874190 66874190 single base substitution G A intron_variant SKCA-BR 16 66874986 66874986 single base substitution G A intron_variant SKCA-BR 16 66874987 66874987 single base substitution G A intron_variant SKCA-BR 16 66878244 66878244 single base substitution T G intron_variant SKCA-BR 16 66878685 66878685 single base substitution C T intron_variant SKCA-BR 16 66882483 66882483 single base substitution G A intron_variant SKCA-BR 16 66882632 66882632 single base substitution G A intron_variant SKCA-BR 16 66883669 66883669 single base substitution G A intron_variant SKCA-BR 16 66884451 66884451 single base substitution T G intron_variant SKCA-BR 16 66885173 66885173 single base substitution C T intron_variant SKCA-BR 16 66885443 66885443 single base substitution G A intron_variant SKCA-BR 16 66885801 66885801 single base substitution C T intron_variant SKCA-BR 16 66886450 66886454 deletion of <=200bp GAAGA - intron_variant SKCA-BR 16 66886499 66886510 deletion of <=200bp AGAAAAGAAAAG - intron_variant SKCA-BR 16 66887290 66887290 single base substitution C T intron_variant SKCA-BR 16 66888771 66888771 single base substitution G A intron_variant SKCA-BR 16 66889133 66889133 single base substitution T A intron_variant SKCA-BR 16 66889143 66889143 insertion of <=200bp - CTTATTTAT intron_variant SKCA-BR 16 66890969 66890969 single base substitution C T intron_variant SKCA-BR 16 66892004 66892004 single base substitution G A intron_variant SKCA-BR 16 66895088 66895088 insertion of <=200bp - GA intron_variant SKCA-BR 16 66895132 66895156 deletion of <=200bp GAAAGGAAAGAAAGAAAGAAAGAAA - intron_variant SKCA-BR 16 66895135 66895136 deletion of <=200bp AG - intron_variant SKCA-BR 16 66895991 66895991 single base substitution G A intron_variant SKCA-BR 16 66896821 66896821 single base substitution G A intron_variant SKCA-BR 16 66897167 66897167 single base substitution G A intron_variant SKCA-BR 16 66897264 66897264 insertion of <=200bp - CA intron_variant SKCA-BR 16 66898805 66898805 single base substitution A G intron_variant SKCA-BR 16 66902365 66902366 deletion of <=200bp AG - intron_variant SKCA-BR 16 66902767 66902767 insertion of <=200bp - TA intron_variant SKCA-BR 16 66905791 66905791 single base substitution G A intron_variant SKCA-BR 16 66906186 66906186 single base substitution C G intron_variant SKCA-BR 16 66908712 66908712 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 16 66910722 66910722 single base substitution G T upstream_gene_variant SKCM-US 16 66839687 66839687 single base substitution G A exon_variant SKCM-US 16 66839687 66839687 single base substitution G A intron_variant SKCM-US 16 66839687 66839687 single base substitution G A synonymous_variant F407F 1221C>T SKCM-US 16 66839687 66839687 single base substitution G A synonymous_variant F490F 1470C>T SKCM-US 16 66839687 66839687 single base substitution G A synonymous_variant F496F 1488C>T SKCM-US 16 66839687 66839687 single base substitution G A synonymous_variant F499F 1497C>T SKCM-US 16 66839687 66839687 single base substitution G A synonymous_variant F74F 222C>T SKCM-US 16 66842427 66842427 single base substitution G A downstream_gene_variant SKCM-US 16 66842427 66842427 single base substitution G A exon_variant SKCM-US 16 66842427 66842427 single base substitution G A missense_variant P354S 1060C>T SKCM-US 16 66842427 66842427 single base substitution G A missense_variant P437S 1309C>T SKCM-US 16 66842427 66842427 single base substitution G A missense_variant P443S 1327C>T SKCM-US 16 66842427 66842427 single base substitution G A missense_variant P446S 1336C>T SKCM-US 16 66842427 66842427 single base substitution G A missense_variant P74S 220C>T SKCM-US 16 66842427 66842427 single base substitution G A missense_variant P9S 25C>T SKCM-US 16 66842427 66842427 single base substitution G A upstream_gene_variant SKCM-US 16 66844305 66844305 single base substitution G A downstream_gene_variant SKCM-US 16 66844305 66844305 single base substitution G A synonymous_variant S285S 855C>T SKCM-US 16 66844305 66844305 single base substitution G A synonymous_variant S368S 1104C>T SKCM-US 16 66844305 66844305 single base substitution G A synonymous_variant S374S 1122C>T SKCM-US 16 66844305 66844305 single base substitution G A synonymous_variant S377S 1131C>T SKCM-US 16 66844305 66844305 single base substitution G A synonymous_variant S5S 15C>T SKCM-US 16 66844305 66844305 single base substitution G A upstream_gene_variant SKCM-US 16 66844668 66844668 single base substitution C T downstream_gene_variant SKCM-US 16 66844668 66844668 single base substitution C T missense_variant E259K 775G>A SKCM-US 16 66844668 66844668 single base substitution C T missense_variant E342K 1024G>A SKCM-US 16 66844668 66844668 single base substitution C T missense_variant E348K 1042G>A SKCM-US 16 66844668 66844668 single base substitution C T missense_variant E351K 1051G>A SKCM-US 16 66844668 66844668 single base substitution C T upstream_gene_variant SKCM-US 16 66885423 66885423 single base substitution G A intron_variant SKCM-US 16 66886680 66886680 single base substitution G A intron_variant STAD-US 16 66842448 66842448 single base substitution G T downstream_gene_variant STAD-US 16 66842448 66842448 single base substitution G T exon_variant STAD-US 16 66842448 66842448 single base substitution G T missense_variant H2N 4C>A STAD-US 16 66842448 66842448 single base substitution G T missense_variant H347N 1039C>A STAD-US 16 66842448 66842448 single base substitution G T missense_variant H430N 1288C>A STAD-US 16 66842448 66842448 single base substitution G T missense_variant H436N 1306C>A STAD-US 16 66842448 66842448 single base substitution G T missense_variant H439N 1315C>A STAD-US 16 66842448 66842448 single base substitution G T missense_variant H67N 199C>A STAD-US 16 66842448 66842448 single base substitution G T upstream_gene_variant STAD-US 16 66844292 66844292 single base substitution C A downstream_gene_variant STAD-US 16 66844292 66844292 single base substitution C A stop_gained E10* 28G>T STAD-US 16 66844292 66844292 single base substitution C A stop_gained E290* 868G>T STAD-US 16 66844292 66844292 single base substitution C A stop_gained E373* 1117G>T STAD-US 16 66844292 66844292 single base substitution C A stop_gained E379* 1135G>T STAD-US 16 66844292 66844292 single base substitution C A stop_gained E382* 1144G>T STAD-US 16 66844292 66844292 single base substitution C A upstream_gene_variant STAD-US 16 66847501 66847501 single base substitution C T downstream_gene_variant STAD-US 16 66847501 66847501 single base substitution C T exon_variant STAD-US 16 66847501 66847501 single base substitution C T missense_variant A245T 733G>A STAD-US 16 66847501 66847501 single base substitution C T missense_variant A328T 982G>A STAD-US 16 66847501 66847501 single base substitution C T missense_variant A334T 1000G>A STAD-US 16 66847501 66847501 single base substitution C T missense_variant A337T 1009G>A STAD-US 16 66847501 66847501 single base substitution C T upstream_gene_variant STAD-US 16 66852491 66852491 single base substitution C T 3_prime_UTR_variant STAD-US 16 66852491 66852491 single base substitution C T downstream_gene_variant STAD-US 16 66852491 66852491 single base substitution C T synonymous_variant K181K 543G>A STAD-US 16 66852491 66852491 single base substitution C T synonymous_variant K187K 561G>A STAD-US 16 66852491 66852491 single base substitution C T synonymous_variant K190K 570G>A STAD-US 16 66852491 66852491 single base substitution C T synonymous_variant K71K 213G>A STAD-US 16 66852491 66852491 single base substitution C T synonymous_variant K98K 294G>A STAD-US 16 66852491 66852491 single base substitution C T upstream_gene_variant STAD-US 16 66880978 66880978 single base substitution G A intron_variant STAD-US 16 66881124 66881124 single base substitution C T intron_variant STAD-US 16 66885451 66885451 insertion of <=200bp - T intron_variant STAD-US 16 66886682 66886682 single base substitution C T intron_variant UCEC-US 16 66839818 66839818 single base substitution T C exon_variant UCEC-US 16 66839818 66839818 single base substitution T C missense_variant E112G 335A>G UCEC-US 16 66839818 66839818 single base substitution T C missense_variant E392G 1175A>G UCEC-US 16 66839818 66839818 single base substitution T C missense_variant E475G 1424A>G UCEC-US 16 66839818 66839818 single base substitution T C missense_variant E47G 140A>G UCEC-US 16 66839818 66839818 single base substitution T C missense_variant E481G 1442A>G UCEC-US 16 66839818 66839818 single base substitution T C missense_variant E484G 1451A>G UCEC-US 16 66839819 66839819 single base substitution C A exon_variant UCEC-US 16 66839819 66839819 single base substitution C A stop_gained E112* 334G>T UCEC-US 16 66839819 66839819 single base substitution C A stop_gained E392* 1174G>T UCEC-US 16 66839819 66839819 single base substitution C A stop_gained E47* 139G>T UCEC-US 16 66839819 66839819 single base substitution C A stop_gained E475* 1423G>T UCEC-US 16 66839819 66839819 single base substitution C A stop_gained E481* 1441G>T UCEC-US 16 66839819 66839819 single base substitution C A stop_gained E484* 1450G>T UCEC-US 16 66842482 66842482 single base substitution C T downstream_gene_variant UCEC-US 16 66842482 66842482 single base substitution C T exon_variant UCEC-US 16 66842482 66842482 single base substitution C T synonymous_variant V335V 1005G>A UCEC-US 16 66842482 66842482 single base substitution C T synonymous_variant V418V 1254G>A UCEC-US 16 66842482 66842482 single base substitution C T synonymous_variant V424V 1272G>A UCEC-US 16 66842482 66842482 single base substitution C T synonymous_variant V427V 1281G>A UCEC-US 16 66842482 66842482 single base substitution C T synonymous_variant V55V 165G>A UCEC-US 16 66842482 66842482 single base substitution C T upstream_gene_variant UCEC-US 16 66842942 66842942 single base substitution C T downstream_gene_variant UCEC-US 16 66842942 66842942 single base substitution C T missense_variant R27Q 80G>A UCEC-US 16 66842942 66842942 single base substitution C T missense_variant R307Q 920G>A UCEC-US 16 66842942 66842942 single base substitution C T missense_variant R390Q 1169G>A UCEC-US 16 66842942 66842942 single base substitution C T missense_variant R396Q 1187G>A UCEC-US 16 66842942 66842942 single base substitution C T missense_variant R399Q 1196G>A UCEC-US 16 66842942 66842942 single base substitution C T upstream_gene_variant UCEC-US 16 66847725 66847725 single base substitution A G downstream_gene_variant UCEC-US 16 66847725 66847725 single base substitution A G exon_variant UCEC-US 16 66847725 66847725 single base substitution A G missense_variant F200L 598T>C UCEC-US 16 66847725 66847725 single base substitution A G missense_variant F283L 847T>C UCEC-US 16 66847725 66847725 single base substitution A G missense_variant F289L 865T>C UCEC-US 16 66847725 66847725 single base substitution A G missense_variant F292L 874T>C UCEC-US 16 66847725 66847725 single base substitution A G upstream_gene_variant UCEC-US 16 66850556 66850556 single base substitution A G 3_prime_UTR_variant UCEC-US 16 66850556 66850556 single base substitution A G downstream_gene_variant UCEC-US 16 66850556 66850556 single base substitution A G exon_variant UCEC-US 16 66850556 66850556 single base substitution A G synonymous_variant N167N 501T>C UCEC-US 16 66850556 66850556 single base substitution A G synonymous_variant N250N 750T>C UCEC-US 16 66850556 66850556 single base substitution A G synonymous_variant N256N 768T>C UCEC-US 16 66850556 66850556 single base substitution A G synonymous_variant N259N 777T>C UCEC-US 16 66857470 66857470 single base substitution C A 3_prime_UTR_variant UCEC-US 16 66857470 66857470 single base substitution C A downstream_gene_variant UCEC-US 16 66857470 66857470 single base substitution C A exon_variant UCEC-US 16 66857470 66857470 single base substitution C A intron_variant UCEC-US 16 66857470 66857470 single base substitution C A stop_gained E130* 388G>T UCEC-US 16 66857470 66857470 single base substitution C A stop_gained E6* 16G>T UCEC-US 16 66857470 66857470 single base substitution C A stop_gained E89* 265G>T UCEC-US 16 66857470 66857470 single base substitution C A stop_gained E95* 283G>T UCEC-US 16 66857470 66857470 single base substitution C A stop_gained E98* 292G>T UCEC-US 16 66880978 66880978 single base substitution G A intron_variant UCEC-US 16 66881124 66881124 single base substitution C T intron_variant UCEC-US 16 66885582 66885582 single base substitution C T intron_variant UCEC-US 16 66885594 66885594 single base substitution C T intron_variant UCEC-US 16 66885607 66885607 single base substitution C T intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand pfg016T COSM1640518 c.1238-8_1238-7insT p.? Unknown 16:66808620-66808621 - HX12T COSM1609496 c.606T>A p.D202E Substitution - Missense 16:66818543-66818543 - B90 COSM1749686 c.1231G>A p.E411K Substitution - Missense 16:66808995-66808995 - 8665_PT COSM5754886 c.613G>A p.E205K Substitution - Missense 16:66818536-66818536 - TCGA-AA-3994-01 COSM298123 c.85G>T p.E29* Substitution - Nonsense 16:66826749-66826749 - TCGA-K4-A3WU-01 COSM3794970 c.67C>T p.H23Y Substitution - Missense 16:66826767-66826767 - 61 COSM3937114 c.550C>T p.R184* Substitution - Nonsense 16:66818599-66818599 - HT29 COSM1679162 c.71G>A p.G24E Substitution - Missense 16:66826763-66826763 - RKO COSM2993789 c.617A>G p.K206R Substitution - Missense 16:66818532-66818532 - TCGA-CF-A1HS-01 COSM417337 c.879C>G p.R293R Substitution - coding silent 16:66813808-66813808 - CSCC-20-T COSM4451967 c.1509A>G p.Q503Q Substitution - coding silent 16:66803105-66803105 - NCI-H835 COSM2993773 c.1127C>T p.S376L Substitution - Missense 16:66810397-66810397 - RKO COSM2993775 c.1102A>G p.I368V Substitution - Missense 16:66810705-66810705 - TCGA-EI-6917-01 COSM3421082 c.598G>T p.D200Y Substitution - Missense 16:66818551-66818551 - 587284 COSM1216597 c.118G>A p.A40T Substitution - Missense 16:66826716-66826716 - CSCC-56-T COSM4568663 c.1268T>C p.I423T Substitution - Missense 16:66808583-66808583 - TCGA-25-1625-01 COSM78140 c.1214A>C p.D405A Substitution - Missense 16:66809012-66809012 - 78 COSM5015383 c.232A>T p.R78* Substitution - Nonsense 16:66824872-66824872 - BD239T COSM5497274 c.53+6C>T p.? Unknown 16:66830841-66830841 - TCGA-BR-4184-01 COSM4061693 c.561G>A p.K187K Substitution - coding silent 16:66818588-66818588 - TCGA-FS-A1ZK-06 COSM3510825 c.1122C>T p.S374S Substitution - coding silent 16:66810402-66810402 - TCGA-D3-A3MU-06 COSM3510826 c.1042G>A p.E348K Substitution - Missense 16:66810765-66810765 - MEL-JWCI-WGS-7 COSM1167635 c.1177delG p.V393fs*1 Deletion - Frameshift 16:66809049-66809049 - TCGA-B5-A11E-01 COSM972218 c.1442A>G p.E481G Substitution - Missense 16:66805915-66805915 - YUKAE COSM5385132 c.1343A>G p.Y448C Substitution - Missense 16:66806014-66806014 - ESCC-060T COSM3937113 c.789G>C p.E263D Substitution - Missense 16:66816632-66816632 - S02120 COSM5673536 c.980G>T p.G327V Substitution - Missense 16:66813618-66813618 - LN229 COSM2993781 c.867T>G p.F289L Substitution - Missense 16:66813820-66813820 - PT48 COSM5933468 c.951A>T p.K317N Substitution - Missense 16:66813647-66813647 - CHC892T COSM4961157 c.724G>A p.D242N Substitution - Missense 16:66816989-66816989 - 7T COSM3712165 c.276C>T p.F92F Substitution - coding silent 16:66823574-66823574 - TCGA-D1-A103-01 COSM972222 c.865T>C p.F289L Substitution - Missense 16:66813822-66813822 - TCGA-EE-A29P-06 COSM3510823 c.1488C>T p.F496F Substitution - coding silent 16:66805784-66805784 - pfg008T COSM1640519 c.748+2T>C p.? Unknown 16:66816963-66816963 - GB16 COSM1743856 c.418G>A p.A140T Substitution - Missense 16:66821543-66821543 - CSCC-38-T COSM4503371 c.638C>T p.P213L Substitution - Missense 16:66817471-66817471 - TCGA-A6-6141-01 COSM3691088 c.1131G>T p.E377D Substitution - Missense 16:66810393-66810393 - TCGA-F5-6814-01 COSM3421083 c.250-1G>T p.? Unknown 16:66823601-66823601 - TCGA-EE-A180-06 COSM3510824 c.1327C>T p.P443S Substitution - Missense 16:66808524-66808524 - ESCC-017T COSM3937114 c.550C>T p.R184* Substitution - Nonsense 16:66818599-66818599 - TCGA-BR-4292-01 COSM4061692 c.1000G>A p.A334T Substitution - Missense 16:66813598-66813598 - CHC361TB COSM3667876 c.608A>C p.H203P Substitution - Missense 16:66818541-66818541 - 19 COSM2993783 c.761delA p.N254fs*19 Deletion - Frameshift 16:66816660-66816660 - SC_9107 COSM5571363 c.1174G>T p.V392L Substitution - Missense 16:66809052-66809052 - PT41 COSM5943860 c.402-7delT p.? Unknown 16:66821566-66821566 - TCGA-BH-A1F6-01 COSM5833112 c.1393delC p.L465fs*8 Deletion - Frameshift 16:66805964-66805964 - TCGA-AP-A056-01 COSM972219 c.1441G>T p.E481* Substitution - Nonsense 16:66805916-66805916 - PT42 COSM5925870 c.1496-7C>T p.? Unknown 16:66803125-66803125 - pfg016T COSM313102 c.620delA p.K207fs*10 Deletion - Frameshift 16:66818529-66818529 - J33_T COSM3957706 c.685-4T>G p.? Unknown 16:66817032-66817032 - 1517_CLM COSM5754886 c.613G>A p.E205K Substitution - Missense 16:66818536-66818536 - CSCC-20-T COSM4451991 c.1525A>T p.I509F Substitution - Missense 16:66803089-66803089 - TCGA-D5-6930-01 COSM1378799 c.1065C>T p.A355A Substitution - coding silent 16:66810742-66810742 - TCGA-AK-3427-01 COSM1493713 c.1035-2A>T p.? Unknown 16:66810774-66810774 - pfg008T COSM1640519 c.748+2T>C p.? Unknown 16:66816963-66816963 - TCGA-AB-2986-03 COSM166686 c.362G>A p.C121Y Substitution - Missense 16:66823266-66823266 - T2269 COSM4705424 c.977G>A p.R326Q Substitution - Missense 16:66813621-66813621 - TCGA-AX-A0J0-01 COSM170450 c.283G>T p.E95* Substitution - Nonsense 16:66823567-66823567 - S00936 COSM313102 c.620delA p.K207fs*10 Deletion - Frameshift 16:66818529-66818529 - TCGA-J9-A52C-01 COSM3937114 c.550C>T p.R184* Substitution - Nonsense 16:66818599-66818599 - RH30SJ_ COSM2993780 c.869A>C p.N290T Substitution - Missense 16:66813818-66813818 - TCGA-AC-A23H-01 COSM3818224 c.1168C>G p.L390V Substitution - Missense 16:66809058-66809058 - TCGA-AU-6004-01 COSM1378800 c.158-1G>T p.? Unknown 16:66826584-66826584 - LUAD-S01357 COSM386742 c.883A>T p.I295L Substitution - Missense 16:66813804-66813804 - H1299 COSM1193498 c.560A>G p.K187R Substitution - Missense 16:66818589-66818589 - TCGA-BS-A0UV-01 COSM972221 c.1187G>A p.R396Q Substitution - Missense 16:66809039-66809039 - CHC892T COSM4961157 c.724G>A p.D242N Substitution - Missense 16:66816989-66816989 - TCGA-AP-A0LD-01 COSM972223 c.768T>C p.N256N Substitution - coding silent 16:66816653-66816653 - TCGA-BR-8680-01 COSM3712164 c.1135G>T p.E379* Substitution - Nonsense 16:66810389-66810389 - PT42 COSM5925871 c.1496-8C>T p.? Unknown 16:66803126-66803126 - 46M COSM5588406 c.966T>A p.N322K Substitution - Missense 16:66813632-66813632 - HN_62995 COSM124659 c.760A>T p.N254Y Substitution - Missense 16:66816661-66816661 - S01453 COSM313103 c.1496G>T p.G499V Substitution - Missense 16:66803118-66803118 - CSCC-45-T COSM4546331 c.397G>C p.E133Q Substitution - Missense 16:66823231-66823231 - 32T COSM3712164 c.1135G>T p.E379* Substitution - Nonsense 16:66810389-66810389 - HT-29 COSM1679162 c.71G>A p.G24E Substitution - Missense 16:66826763-66826763 - PTC-14C COSM4129174 c.1527C>A p.I509I Substitution - coding silent 16:66803087-66803087 - ESCC-184T COSM3937112 c.889A>G p.I297V Substitution - Missense 16:66813798-66813798 - LUAD-RT-S01702 COSM379106 c.1289G>A p.R430Q Substitution - Missense 16:66808562-66808562 - TCGA-BR-8680-01 COSM4061691 c.1306C>A p.H436N Substitution - Missense 16:66808545-66808545 - TCGA-36-2534-01 COSM1324368 c.1438C>G p.H480D Substitution - Missense 16:66805919-66805919 - B90-Tumor COSM1749686 c.1231G>A p.E411K Substitution - Missense 16:66808995-66808995 - OSCC-GB_00070111 COSM3712165 c.276C>T p.F92F Substitution - coding silent 16:66823574-66823574 - STC263 COSM5054977 c.253C>T p.R85* Substitution - Nonsense 16:66823597-66823597 - S01453 COSM313103 c.1496G>T p.G499V Substitution - Missense 16:66803118-66803118 - KM12 COSM2993779 c.930C>T p.A310A Substitution - coding silent 16:66813668-66813668 - TC71 COSM2993766 c.1512G>A p.E504E Substitution - coding silent 16:66803102-66803102 - MDA-N COSM1679161 c.979G>A p.G327S Substitution - Missense 16:66813619-66813619 - BD72T COSM5513205 c.1238-9delT p.? Unknown 16:66808622-66808622 - 2521243 COSM5886927 c.1393C>T p.L465F Substitution - Missense 16:66805964-66805964 - TCGA-BS-A0UJ-01 COSM972220 c.1272G>A p.V424V Substitution - coding silent 16:66808579-66808579 - tumor_4121361 COSM3356846 c.698T>G p.I233R Substitution - Missense 16:66817015-66817015 - OSCC-GB_00320111 COSM3712164 c.1135G>T p.E379* Substitution - Nonsense 16:66810389-66810389 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.460978 16q22 603385

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I233R c.698T>G 16 66850918 DLBCL A G IntronicSNV . c.748+12T>C 16 66850856 DLBCL A G Missense p.S146P c.436T>C 16 66855428 COREAD A G SpliceDonorSNV . c.748+2T>C 16 66850866 STAD A G Synonymous p.N256N c.768T>C 16 66850556 UCEC - A IntronicInsertion . c.1238-9dupT 16 66842526 STAD A T IntronicSNV . c.685-67T>A 16 66850998 DLBCL A T IntronicSNV . c.748+22T>A 16 66850846 DLBCL A T Synonymous p.I285I c.855T>A 16 66847735 LUAD C A Missense p.A502S c.1504G>T 16 66837013 LUAD C A Missense p.G499V c.1496G>T 16 66837021 SCLC C A Nonsense p.E29* c.85G>T 16 66860652 COREAD C - Frameshift p.V393*fs*1 c.1177delG 16 66842952 CM C G Missense p.E401Q c.1201G>C 16 66842928 BRCA C T Missense p.A334T c.1000G>A 16 66847501 STAD C T Missense p.C121Y c.362G>A 16 66857169 AML C T Missense p.E348K c.1042G>A 16 66844668 CM G A Missense p.P443S c.1327C>T 16 66842427 CM G A Nonsense p.R232* c.694C>T 16 66850922 LUAD G A Synonymous p.F496F c.1488C>T 16 66839687 CM G A Synonymous p.I297I c.891C>T 16 66847699 CM G A Synonymous p.S374S c.1122C>T 16 66844305 CM G C Missense p.L76V c.226C>G 16 66858781 CM G C Synonymous p.R293R c.879C>G 16 66847711 BLCA T A Missense p.D410V c.1229A>T 16 66842900 LUAD T A Missense p.N254Y c.760A>T 16 66850564 HNSC T C Missense p.E504G c.1511A>G 16 66837006 HNSC T C Missense p.N386D c.1156A>G 16 66842973 STAD T - Frameshift p.K207Rfs*10 c.620delA 16 66852432 SCLC T - Frameshift p.K207Rfs*10 c.620delA 16 66852432 STAD T G Missense p.D405A c.1214A>C 16 66842915 OV