Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 5 43161449 43161449 + Missense_Mutation SNP C C T TCGA-OR-A5JI-01A-11D-A29I-10 TCGA-OR-A5JI-10A-01D-A29L-10 g.chr5:43161449C>T c.470C>T c.(469-471)tCa>tTa p.S157L ACC 5 43161463 43161463 + Missense_Mutation SNP G G C TCGA-OR-A5K5-01A-11D-A29I-10 TCGA-OR-A5K5-10A-01D-A29L-10 g.chr5:43161463G>C c.484G>C c.(484-486)Gaa>Caa p.E162Q BLCA 5 43122225 43122225 + Silent SNP T T C TCGA-K4-A4AB-01B-12D-A289-08 TCGA-K4-A4AB-10A-01D-A289-08 g.chr5:43122225T>C c.70T>C c.(70-72)Ttg>Ctg p.L24L BLCA 5 43122240 43122240 + Missense_Mutation SNP G G C TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 g.chr5:43122240G>C c.85G>C c.(85-87)Gag>Cag p.E29Q BLCA 5 43161417 43161417 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr5:43161417G>C c.438G>C c.(436-438)aaG>aaC p.K146N BLCA 5 43161484 43161484 + Nonsense_Mutation SNP G G T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr5:43161484G>T c.505G>T c.(505-507)Gag>Tag p.E169* BLCA 5 43161885 43161885 + Silent SNP A A G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr5:43161885A>G c.906A>G c.(904-906)gcA>gcG p.A302A BLCA 5 43174936 43174936 + Missense_Mutation SNP C C G TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr5:43174936C>G c.1573C>G c.(1573-1575)Cta>Gta p.L525V BLCA 5 43175134 43175134 + Missense_Mutation SNP G G A TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr5:43175134G>A c.1771G>A c.(1771-1773)Gat>Aat p.D591N BLCA 5 43175157 43175157 + Missense_Mutation SNP A A C TCGA-FD-A5BV-01A-11D-A26M-08 TCGA-FD-A5BV-10A-01D-A26K-08 g.chr5:43175157A>C c.1794A>C c.(1792-1794)ttA>ttC p.L598F BLCA 5 43175204 43175204 + Missense_Mutation SNP A A G TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 g.chr5:43175204A>G c.1841A>G c.(1840-1842)gAg>gGg p.E614G BRCA 5 43161487 43161487 + Missense_Mutation SNP G G A TCGA-AN-A0FD-01A-11W-A050-09 TCGA-AN-A0FD-10A-01W-A055-09 g.chr5:43161487G>A c.508G>A c.(508-510)Gta>Ata p.V170I BRCA 5 43161509 43161509 + Missense_Mutation SNP T T C TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 g.chr5:43161509T>C c.530T>C c.(529-531)aTt>aCt p.I177T BRCA 5 43161888 43161888 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 g.chr5:43161888G>C c.909G>C c.(907-909)tgG>tgC p.W303C BRCA 5 43161931 43161931 + Missense_Mutation SNP A A G TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr5:43161931A>G c.952A>G c.(952-954)Agt>Ggt p.S318G BRCA 5 43174618 43174618 + Missense_Mutation SNP C C A TCGA-AN-A0XN-01A-21D-A10G-09 TCGA-AN-A0XN-10A-01D-A10G-09 g.chr5:43174618C>A c.1255C>A c.(1255-1257)Ccc>Acc p.P419T BRCA 5 43174806 43174806 + Silent SNP A A G TCGA-BH-A0E7-01A-11W-A050-09 TCGA-BH-A0E7-10A-01W-A055-09 g.chr5:43174806A>G c.1443A>G c.(1441-1443)ctA>ctG p.L481L BRCA 5 43175004 43175004 + Silent SNP G G A TCGA-AR-A1AK-01A-21D-A12Q-09 TCGA-AR-A1AK-10A-01D-A12Q-09 g.chr5:43175004G>A c.1641G>A c.(1639-1641)cgG>cgA p.R547R BRCA 5 43175143 43175143 + Missense_Mutation SNP G G C TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 g.chr5:43175143G>C c.1780G>C c.(1780-1782)Gat>Cat p.D594H CESC 5 43161601 43161601 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr5:43161601G>A c.622G>A c.(622-624)Gat>Aat p.D208N CESC 5 43174963 43174963 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr5:43174963G>C c.1600G>C c.(1600-1602)Gaa>Caa p.E534Q COAD 5 43123334 43123334 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr5:43123334G>A c.148G>A c.(148-150)Gct>Act p.A50T COAD 5 43161406 43161406 + Frame_Shift_Del DEL A A - TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr5:43161406delA c.427delA c.(427-429)aaafs p.K144fs COAD 5 43161584 43161584 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr5:43161584G>A c.605G>A c.(604-606)aGc>aAc p.S202N COAD 5 43161871 43161871 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:43161871C>A c.892C>A c.(892-894)Ctt>Att p.L298I COADREAD 5 43123334 43123334 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr5:43123334G>A c.148G>A c.(148-150)Gct>Act p.A50T COADREAD 5 43161406 43161406 + Frame_Shift_Del DEL A A - TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr5:43161406delA c.427delA c.(427-429)aaafs p.K144fs COADREAD 5 43161584 43161584 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr5:43161584G>A c.605G>A c.(604-606)aGc>aAc p.S202N COADREAD 5 43161871 43161871 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:43161871C>A c.892C>A c.(892-894)Ctt>Att p.L298I DLBC 5 43173541 43173541 + Silent SNP C C T TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr5:43173541C>T c.1176C>T c.(1174-1176)taC>taT p.Y392Y ESCA 5 43173515 43173515 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 g.chr5:43173515G>A c.1150G>A c.(1150-1152)Gca>Aca p.A384T ESCA 5 43175102 43175102 + Missense_Mutation SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 g.chr5:43175102G>A c.1739G>A c.(1738-1740)aGc>aAc p.S580N GBMLGG 5 43161369 43161369 + Silent SNP T T C TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 g.chr5:43161369T>C c.390T>C c.(388-390)gcT>gcC p.A130A HNSC 5 43139394 43139394 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 g.chr5:43139394C>G c.354C>G c.(352-354)atC>atG p.I118M HNSC 5 43161390 43161390 + Silent SNP A A T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 g.chr5:43161390A>T c.411A>T c.(409-411)acA>acT p.T137T HNSC 5 43174753 43174753 + Missense_Mutation SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 g.chr5:43174753G>A c.1390G>A c.(1390-1392)Gaa>Aaa p.E464K KIPAN 5 43161423 43161423 + Silent SNP A A G TCGA-CW-6093-01A-11D-1669-08 TCGA-CW-6093-11A-01D-1669-08 g.chr5:43161423A>G c.444A>G c.(442-444)gcA>gcG p.A148A KIPAN 5 43175076 43175076 + Missense_Mutation SNP C C G TCGA-BP-4775-01A-01D-1366-10 TCGA-BP-4775-11A-01D-1367-10 g.chr5:43175076C>G c.1713C>G c.(1711-1713)atC>atG p.I571M KIRC 5 43161423 43161423 + Silent SNP A A G TCGA-CW-6093-01A-11D-1669-08 TCGA-CW-6093-11A-01D-1669-08 g.chr5:43161423A>G c.444A>G c.(442-444)gcA>gcG p.A148A KIRC 5 43175076 43175076 + Missense_Mutation SNP C C G TCGA-BP-4775-01A-01D-1366-10 TCGA-BP-4775-11A-01D-1367-10 g.chr5:43175076C>G c.1713C>G c.(1711-1713)atC>atG p.I571M LGG 5 43161369 43161369 + Silent SNP T T C TCGA-E1-A7YO-01A-11D-A34A-08 TCGA-E1-A7YO-10A-01D-A34A-08 g.chr5:43161369T>C c.390T>C c.(388-390)gcT>gcC p.A130A LIHC 5 43139306 43139306 + Missense_Mutation SNP C C T TCGA-DD-AADI-01A-11D-A40R-10 TCGA-DD-AADI-10A-01D-A40U-10 g.chr5:43139306C>T c.266C>T c.(265-267)aCa>aTa p.T89I LIHC 5 43161821 43161821 + Missense_Mutation SNP A A G TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr5:43161821A>G c.842A>G c.(841-843)aAa>aGa p.K281R LIHC 5 43161948 43161948 + Silent SNP T T C TCGA-G3-A25S-01A-11D-A16V-10 TCGA-G3-A25S-10A-01D-A16V-10 g.chr5:43161948T>C c.969T>C c.(967-969)acT>acC p.T323T LUAD 5 43122172 43122172 + Missense_Mutation SNP C C G TCGA-55-7913-01B-11D-2238-08 TCGA-55-7913-10A-01D-2238-08 g.chr5:43122172C>G c.17C>G c.(16-18)aCg>aGg p.T6R LUAD 5 43139296 43139296 + Missense_Mutation SNP A A C TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 g.chr5:43139296A>C c.256A>C c.(256-258)Att>Ctt p.I86L LUAD 5 43161516 43161516 + Silent SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 g.chr5:43161516G>T c.537G>T c.(535-537)gtG>gtT p.V179V LUAD 5 43161541 43161541 + Missense_Mutation SNP G G C TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr5:43161541G>C c.562G>C c.(562-564)Gag>Cag p.E188Q LUAD 5 43161564 43161564 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr5:43161564G>T c.585G>T c.(583-585)caG>caT p.Q195H LUAD 5 43161568 43161568 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr5:43161568G>T c.589G>T c.(589-591)Gta>Tta p.V197L LUAD 5 43174673 43174673 + Missense_Mutation SNP G G T TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 g.chr5:43174673G>T c.1310G>T c.(1309-1311)aGg>aTg p.R437M LUAD 5 43174701 43174701 + Silent SNP A A T TCGA-69-7764-01A-11D-2167-08 TCGA-69-7764-10A-01D-2167-08 g.chr5:43174701A>T c.1338A>T c.(1336-1338)tcA>tcT p.S446S LUAD 5 43174846 43174846 + Missense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr5:43174846G>T c.1483G>T c.(1483-1485)Gtg>Ttg p.V495L LUAD 5 43174960 43174960 + Missense_Mutation SNP G G A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr5:43174960G>A c.1597G>A c.(1597-1599)Gaa>Aaa p.E533K LUAD 5 43175089 43175089 + Nonsense_Mutation SNP G G T TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 g.chr5:43175089G>T c.1726G>T c.(1726-1728)Gag>Tag p.E576* LUAD 5 43175188 43175188 + Missense_Mutation SNP G G C TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr5:43175188G>C c.1825G>C c.(1825-1827)Gaa>Caa p.E609Q LUSC 5 43122223 43122223 + Missense_Mutation SNP G G T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 g.chr5:43122223G>T c.68G>T c.(67-69)cGa>cTa p.R23L LUSC 5 43139363 43139363 + Missense_Mutation SNP C C T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 g.chr5:43139363C>T c.323C>T c.(322-324)gCa>gTa p.A108V LUSC 5 43175067 43175067 + Silent SNP C C A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr5:43175067C>A c.1704C>A c.(1702-1704)acC>acA p.T568T PAAD 5 43161449 43161449 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:43161449C>T c.470C>T c.(469-471)tCa>tTa p.S157L PAAD 5 43161521 43161521 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:43161521A>G c.542A>G c.(541-543)gAt>gGt p.D181G PCPG 5 43174694 43174694 + Missense_Mutation SNP A A G TCGA-QR-A702-01A-11D-A35D-08 TCGA-QR-A702-10A-01D-A35B-08 g.chr5:43174694A>G c.1331A>G c.(1330-1332)aAt>aGt p.N444S PRAD 5 43139402 43139402 + Missense_Mutation SNP T T G TCGA-G9-6371-01A-11D-1786-08 TCGA-G9-6371-10A-01D-1786-08 g.chr5:43139402T>G c.362T>G c.(361-363)cTt>cGt p.L121R PRAD 5 43174661 43174661 + Missense_Mutation SNP A A G TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 g.chr5:43174661A>G c.1298A>G c.(1297-1299)aAt>aGt p.N433S PRAD 5 43175082 43175082 + Silent SNP C C T TCGA-VN-A88K-01A-11D-A34U-08 TCGA-VN-A88K-10A-01D-A34X-08 g.chr5:43175082C>T c.1719C>T c.(1717-1719)aaC>aaT p.N573N SARC 5 43161952 43161952 + Frame_Shift_Del DEL A A - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr5:43161952delA c.973delA c.(973-975)aaafs p.K326fs SKCM 5 43161823 43161823 + Missense_Mutation SNP T T G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr5:43161823T>G c.844T>G c.(844-846)Tca>Gca p.S282A SKCM 5 43161961 43161961 + Missense_Mutation SNP C C T TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr5:43161961C>T c.982C>T c.(982-984)Cat>Tat p.H328Y SKCM 5 43174766 43174766 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr5:43174766C>T c.1403C>T c.(1402-1404)tCa>tTa p.S468L SKCM 5 43174852 43174852 + Missense_Mutation SNP C C A TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 g.chr5:43174852C>A c.1489C>A c.(1489-1491)Caa>Aaa p.Q497K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 5 43122240 43122240 single base substitution G C exon_variant BLCA-US 5 43122240 43122240 single base substitution G C missense_variant E29Q 85G>C BLCA-US 5 43122240 43122240 single base substitution G C missense_variant E77Q 229G>C BLCA-US 5 43161885 43161885 single base substitution A G 3_prime_UTR_variant BLCA-US 5 43161885 43161885 single base substitution A G downstream_gene_variant BLCA-US 5 43161885 43161885 single base substitution A G intron_variant BLCA-US 5 43161885 43161885 single base substitution A G synonymous_variant A268A 804A>G BLCA-US 5 43161885 43161885 single base substitution A G synonymous_variant A302A 906A>G BLCA-US 5 43161885 43161885 single base substitution A G upstream_gene_variant BRCA-EU 5 43060368 43060368 single base substitution C T upstream_gene_variant BRCA-EU 5 43061101 43061101 single base substitution C T upstream_gene_variant BRCA-EU 5 43063731 43063731 single base substitution T A upstream_gene_variant BRCA-EU 5 43065425 43065425 single base substitution C T intron_variant BRCA-EU 5 43065425 43065425 single base substitution C T upstream_gene_variant BRCA-EU 5 43066495 43066495 single base substitution G A intron_variant BRCA-EU 5 43066495 43066495 single base substitution G A upstream_gene_variant BRCA-EU 5 43067209 43067209 single base substitution G C intron_variant BRCA-EU 5 43067209 43067209 single base substitution G C upstream_gene_variant BRCA-EU 5 43067302 43067302 single base substitution C T intron_variant BRCA-EU 5 43067302 43067302 single base substitution C T upstream_gene_variant BRCA-EU 5 43069065 43069065 single base substitution C A intron_variant BRCA-EU 5 43069067 43069067 single base substitution G A intron_variant BRCA-EU 5 43069094 43069094 single base substitution A C intron_variant BRCA-EU 5 43069677 43069677 single base substitution A G intron_variant BRCA-EU 5 43070984 43070984 single base substitution C T intron_variant BRCA-EU 5 43071698 43071698 single base substitution C T intron_variant BRCA-EU 5 43074543 43074543 single base substitution G A intron_variant BRCA-EU 5 43075351 43075351 single base substitution C T intron_variant BRCA-EU 5 43076255 43076255 single base substitution G C intron_variant BRCA-EU 5 43076385 43076385 single base substitution G A intron_variant BRCA-EU 5 43076624 43076624 single base substitution G C intron_variant BRCA-EU 5 43076962 43076962 single base substitution G C intron_variant BRCA-EU 5 43077307 43077307 single base substitution C G intron_variant BRCA-EU 5 43079075 43079075 single base substitution C T intron_variant BRCA-EU 5 43079914 43079914 single base substitution A G intron_variant BRCA-EU 5 43080210 43080210 single base substitution G A exon_variant BRCA-EU 5 43080210 43080210 single base substitution G A intron_variant BRCA-EU 5 43080469 43080469 single base substitution T A downstream_gene_variant BRCA-EU 5 43080469 43080469 single base substitution T A exon_variant BRCA-EU 5 43080469 43080469 single base substitution T A intron_variant BRCA-EU 5 43080503 43080503 single base substitution C A downstream_gene_variant BRCA-EU 5 43080503 43080503 single base substitution C A exon_variant BRCA-EU 5 43080503 43080503 single base substitution C A intron_variant BRCA-EU 5 43080636 43080636 single base substitution G A downstream_gene_variant BRCA-EU 5 43080636 43080636 single base substitution G A intron_variant BRCA-EU 5 43080640 43080640 single base substitution T C downstream_gene_variant BRCA-EU 5 43080640 43080640 single base substitution T C intron_variant BRCA-EU 5 43080662 43080662 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 43080662 43080662 deletion of <=200bp T - intron_variant BRCA-EU 5 43080855 43080855 single base substitution G C downstream_gene_variant BRCA-EU 5 43080855 43080855 single base substitution G C intron_variant BRCA-EU 5 43081509 43081509 single base substitution C T downstream_gene_variant BRCA-EU 5 43081509 43081509 single base substitution C T intron_variant BRCA-EU 5 43082407 43082407 single base substitution T C downstream_gene_variant BRCA-EU 5 43082407 43082407 single base substitution T C intron_variant BRCA-EU 5 43082646 43082646 single base substitution G C downstream_gene_variant BRCA-EU 5 43082646 43082646 single base substitution G C intron_variant BRCA-EU 5 43083933 43083933 single base substitution G C downstream_gene_variant BRCA-EU 5 43083933 43083933 single base substitution G C intron_variant BRCA-EU 5 43084816 43084816 single base substitution C G downstream_gene_variant BRCA-EU 5 43084816 43084816 single base substitution C G intron_variant BRCA-EU 5 43086635 43086635 single base substitution T G intron_variant BRCA-EU 5 43087694 43087694 single base substitution G A intron_variant BRCA-EU 5 43089057 43089057 single base substitution A G intron_variant BRCA-EU 5 43089653 43089653 insertion of <=200bp - A intron_variant BRCA-EU 5 43093269 43093269 single base substitution G A exon_variant BRCA-EU 5 43093269 43093269 single base substitution G A intron_variant BRCA-EU 5 43093858 43093858 single base substitution C G downstream_gene_variant BRCA-EU 5 43093858 43093858 single base substitution C G intron_variant BRCA-EU 5 43094012 43094012 single base substitution G A downstream_gene_variant BRCA-EU 5 43094012 43094012 single base substitution G A intron_variant BRCA-EU 5 43095192 43095192 single base substitution G A downstream_gene_variant BRCA-EU 5 43095192 43095192 single base substitution G A intron_variant BRCA-EU 5 43096512 43096512 single base substitution G T downstream_gene_variant BRCA-EU 5 43096512 43096512 single base substitution G T intron_variant BRCA-EU 5 43096975 43096975 single base substitution G C downstream_gene_variant BRCA-EU 5 43096975 43096975 single base substitution G C intron_variant BRCA-EU 5 43099349 43099349 single base substitution G A exon_variant BRCA-EU 5 43099349 43099349 single base substitution G A intron_variant BRCA-EU 5 43101323 43101323 single base substitution G A downstream_gene_variant BRCA-EU 5 43101323 43101323 single base substitution G A intron_variant BRCA-EU 5 43101721 43101721 single base substitution G A downstream_gene_variant BRCA-EU 5 43101721 43101721 single base substitution G A intron_variant BRCA-EU 5 43102768 43102768 single base substitution C G downstream_gene_variant BRCA-EU 5 43102768 43102768 single base substitution C G intron_variant BRCA-EU 5 43103384 43103384 single base substitution G C downstream_gene_variant BRCA-EU 5 43103384 43103384 single base substitution G C intron_variant BRCA-EU 5 43103683 43103683 single base substitution G C downstream_gene_variant BRCA-EU 5 43103683 43103683 single base substitution G C intron_variant BRCA-EU 5 43104083 43104086 deletion of <=200bp TGTG - downstream_gene_variant BRCA-EU 5 43104083 43104086 deletion of <=200bp TGTG - intron_variant BRCA-EU 5 43104107 43104107 single base substitution C T downstream_gene_variant BRCA-EU 5 43104107 43104107 single base substitution C T intron_variant BRCA-EU 5 43104116 43104116 single base substitution G T downstream_gene_variant BRCA-EU 5 43104116 43104116 single base substitution G T intron_variant BRCA-EU 5 43105024 43105024 single base substitution C T intron_variant BRCA-EU 5 43105094 43105094 single base substitution C A intron_variant BRCA-EU 5 43105881 43105892 deletion of <=200bp GGACTTGGCTGG - intron_variant BRCA-EU 5 43107468 43107468 deletion of <=200bp T - intron_variant BRCA-EU 5 43108483 43108483 single base substitution A G intron_variant BRCA-EU 5 43108750 43108750 single base substitution G A intron_variant BRCA-EU 5 43109893 43109893 single base substitution C T intron_variant BRCA-EU 5 43110893 43110893 single base substitution G T intron_variant BRCA-EU 5 43112754 43112754 single base substitution G C intron_variant BRCA-EU 5 43113450 43113450 single base substitution G A intron_variant BRCA-EU 5 43115342 43115342 single base substitution G A intron_variant BRCA-EU 5 43115401 43115401 deletion of <=200bp T - intron_variant BRCA-EU 5 43116242 43116242 single base substitution A T intron_variant BRCA-EU 5 43116242 43116242 single base substitution A T upstream_gene_variant BRCA-EU 5 43116868 43116873 deletion of <=200bp CAGTCT - intron_variant BRCA-EU 5 43116868 43116873 deletion of <=200bp CAGTCT - upstream_gene_variant BRCA-EU 5 43117100 43117100 single base substitution C T intron_variant BRCA-EU 5 43117100 43117100 single base substitution C T upstream_gene_variant BRCA-EU 5 43117519 43117519 single base substitution C T intron_variant BRCA-EU 5 43117519 43117519 single base substitution C T upstream_gene_variant BRCA-EU 5 43117654 43117654 single base substitution T C intron_variant BRCA-EU 5 43117654 43117654 single base substitution T C upstream_gene_variant BRCA-EU 5 43118043 43118043 single base substitution C T intron_variant BRCA-EU 5 43118043 43118043 single base substitution C T upstream_gene_variant BRCA-EU 5 43118065 43118065 single base substitution A G intron_variant BRCA-EU 5 43118065 43118065 single base substitution A G upstream_gene_variant BRCA-EU 5 43118208 43118208 single base substitution G A intron_variant BRCA-EU 5 43118208 43118208 single base substitution G A upstream_gene_variant BRCA-EU 5 43119109 43119109 single base substitution A G intron_variant BRCA-EU 5 43119109 43119109 single base substitution A G upstream_gene_variant BRCA-EU 5 43119297 43119297 single base substitution A G intron_variant BRCA-EU 5 43119297 43119297 single base substitution A G upstream_gene_variant BRCA-EU 5 43119554 43119554 single base substitution C A intron_variant BRCA-EU 5 43119554 43119554 single base substitution C A upstream_gene_variant BRCA-EU 5 43119696 43119696 single base substitution C G intron_variant BRCA-EU 5 43119696 43119696 single base substitution C G upstream_gene_variant BRCA-EU 5 43120040 43120040 single base substitution G T missense_variant V6L 16G>T BRCA-EU 5 43120040 43120040 single base substitution G T upstream_gene_variant BRCA-EU 5 43120372 43120372 single base substitution T C intron_variant BRCA-EU 5 43120372 43120372 single base substitution T C upstream_gene_variant BRCA-EU 5 43123288 43123288 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 43123288 43123288 deletion of <=200bp T - intron_variant BRCA-EU 5 43124632 43124632 single base substitution A T downstream_gene_variant BRCA-EU 5 43124632 43124632 single base substitution A T exon_variant BRCA-EU 5 43124632 43124632 single base substitution A T intron_variant BRCA-EU 5 43124634 43124634 single base substitution C T downstream_gene_variant BRCA-EU 5 43124634 43124634 single base substitution C T exon_variant BRCA-EU 5 43124634 43124634 single base substitution C T intron_variant BRCA-EU 5 43125036 43125036 single base substitution G T downstream_gene_variant BRCA-EU 5 43125036 43125036 single base substitution G T exon_variant BRCA-EU 5 43125036 43125036 single base substitution G T intron_variant BRCA-EU 5 43126020 43126020 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 43126020 43126020 deletion of <=200bp A - intron_variant BRCA-EU 5 43126413 43126413 single base substitution G A downstream_gene_variant BRCA-EU 5 43126413 43126413 single base substitution G A intron_variant BRCA-EU 5 43127624 43127624 single base substitution C G downstream_gene_variant BRCA-EU 5 43127624 43127624 single base substitution C G intron_variant BRCA-EU 5 43127814 43127814 single base substitution G C downstream_gene_variant BRCA-EU 5 43127814 43127814 single base substitution G C intron_variant BRCA-EU 5 43131675 43131675 single base substitution G C intron_variant BRCA-EU 5 43132749 43132749 single base substitution A T intron_variant BRCA-EU 5 43132843 43132843 single base substitution G T intron_variant BRCA-EU 5 43132883 43132883 single base substitution G A intron_variant BRCA-EU 5 43133710 43133710 single base substitution G A intron_variant BRCA-EU 5 43134581 43134581 single base substitution A G intron_variant BRCA-EU 5 43135109 43135109 deletion of <=200bp T - intron_variant BRCA-EU 5 43135632 43135632 single base substitution C T intron_variant BRCA-EU 5 43136106 43136106 single base substitution A G intron_variant BRCA-EU 5 43137120 43137120 single base substitution G A intron_variant BRCA-EU 5 43137234 43137234 single base substitution G C intron_variant BRCA-EU 5 43137604 43137604 single base substitution C T intron_variant BRCA-EU 5 43138416 43138416 single base substitution T C intron_variant BRCA-EU 5 43138894 43138894 single base substitution G A intron_variant BRCA-EU 5 43139500 43139500 single base substitution G A intron_variant BRCA-EU 5 43142986 43142986 single base substitution G T intron_variant BRCA-EU 5 43143094 43143094 single base substitution G C intron_variant BRCA-EU 5 43143194 43143194 single base substitution G A intron_variant BRCA-EU 5 43147836 43147836 single base substitution A T intron_variant BRCA-EU 5 43149681 43149681 single base substitution G C intron_variant BRCA-EU 5 43149815 43149815 deletion of <=200bp T - intron_variant BRCA-EU 5 43150038 43150038 single base substitution T C intron_variant BRCA-EU 5 43150833 43150833 single base substitution C G intron_variant BRCA-EU 5 43151049 43151049 single base substitution C T intron_variant BRCA-EU 5 43151597 43151597 single base substitution C T intron_variant BRCA-EU 5 43151773 43151773 single base substitution G A intron_variant BRCA-EU 5 43152825 43152825 single base substitution C A intron_variant BRCA-EU 5 43153411 43153411 single base substitution G T intron_variant BRCA-EU 5 43153447 43153447 single base substitution C T intron_variant BRCA-EU 5 43153453 43153453 single base substitution G A intron_variant BRCA-EU 5 43155107 43155107 single base substitution G A intron_variant BRCA-EU 5 43155635 43155635 single base substitution G A intron_variant BRCA-EU 5 43156266 43156266 single base substitution C G intron_variant BRCA-EU 5 43158978 43158978 single base substitution C G intron_variant BRCA-EU 5 43158978 43158978 single base substitution C G upstream_gene_variant BRCA-EU 5 43160233 43160233 single base substitution A G intron_variant BRCA-EU 5 43160233 43160233 single base substitution A G upstream_gene_variant BRCA-EU 5 43160848 43160848 single base substitution C T intron_variant BRCA-EU 5 43160848 43160848 single base substitution C T upstream_gene_variant BRCA-EU 5 43161065 43161065 single base substitution G A intron_variant BRCA-EU 5 43161065 43161065 single base substitution G A upstream_gene_variant BRCA-EU 5 43161281 43161281 single base substitution T A intron_variant BRCA-EU 5 43161281 43161281 single base substitution T A upstream_gene_variant BRCA-EU 5 43162059 43162059 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 43162059 43162059 deletion of <=200bp T - intron_variant BRCA-EU 5 43162204 43162204 single base substitution T A downstream_gene_variant BRCA-EU 5 43162204 43162204 single base substitution T A intron_variant BRCA-EU 5 43163845 43163845 single base substitution T G downstream_gene_variant BRCA-EU 5 43163845 43163845 single base substitution T G intron_variant BRCA-EU 5 43163921 43163921 single base substitution C G downstream_gene_variant BRCA-EU 5 43163921 43163921 single base substitution C G intron_variant BRCA-EU 5 43166553 43166553 single base substitution C A downstream_gene_variant BRCA-EU 5 43166553 43166553 single base substitution C A intron_variant BRCA-EU 5 43166643 43166643 single base substitution T A downstream_gene_variant BRCA-EU 5 43166643 43166643 single base substitution T A intron_variant BRCA-EU 5 43166792 43166792 single base substitution C G downstream_gene_variant BRCA-EU 5 43166792 43166792 single base substitution C G intron_variant BRCA-EU 5 43167185 43167185 single base substitution C T intron_variant BRCA-EU 5 43167410 43167410 single base substitution G A intron_variant BRCA-EU 5 43168671 43168671 single base substitution G A intron_variant BRCA-EU 5 43168671 43168671 single base substitution G A upstream_gene_variant BRCA-EU 5 43168726 43168726 single base substitution G A intron_variant BRCA-EU 5 43168726 43168726 single base substitution G A upstream_gene_variant BRCA-EU 5 43169405 43169406 deletion of <=200bp AT - intron_variant BRCA-EU 5 43169405 43169406 deletion of <=200bp AT - upstream_gene_variant BRCA-EU 5 43170655 43170655 single base substitution G C intron_variant BRCA-EU 5 43170655 43170655 single base substitution G C upstream_gene_variant BRCA-EU 5 43171213 43171213 single base substitution A C intron_variant BRCA-EU 5 43171213 43171213 single base substitution A C upstream_gene_variant BRCA-EU 5 43171695 43171695 single base substitution C A intron_variant BRCA-EU 5 43171695 43171695 single base substitution C A upstream_gene_variant BRCA-EU 5 43171817 43171817 single base substitution C G intron_variant BRCA-EU 5 43171817 43171817 single base substitution C G upstream_gene_variant BRCA-EU 5 43172613 43172613 single base substitution A G intron_variant BRCA-EU 5 43172613 43172613 single base substitution A G upstream_gene_variant BRCA-EU 5 43174413 43174413 single base substitution G C intron_variant BRCA-EU 5 43177013 43177013 insertion of <=200bp - A downstream_gene_variant BRCA-EU 5 43177013 43177013 insertion of <=200bp - A intron_variant BRCA-EU 5 43178199 43178201 deletion of <=200bp GTC - downstream_gene_variant BRCA-EU 5 43178199 43178201 deletion of <=200bp GTC - intron_variant BRCA-EU 5 43180216 43180216 single base substitution C G downstream_gene_variant BRCA-EU 5 43180216 43180216 single base substitution C G intron_variant BRCA-EU 5 43181784 43181784 single base substitution C T intron_variant BRCA-EU 5 43182243 43182243 single base substitution G C intron_variant BRCA-EU 5 43183234 43183234 single base substitution C G intron_variant BRCA-EU 5 43183877 43183877 single base substitution T G intron_variant BRCA-EU 5 43185090 43185090 single base substitution G C intron_variant BRCA-EU 5 43185493 43185493 single base substitution G A intron_variant BRCA-EU 5 43185870 43185870 single base substitution G C intron_variant BRCA-EU 5 43186366 43186366 single base substitution A C intron_variant BRCA-EU 5 43186864 43186864 single base substitution G A intron_variant BRCA-EU 5 43188122 43188122 single base substitution T C intron_variant BRCA-EU 5 43189064 43189064 single base substitution A G intron_variant BRCA-EU 5 43189887 43189887 single base substitution C G intron_variant BRCA-EU 5 43190339 43190339 single base substitution G C intron_variant BRCA-EU 5 43191357 43191357 single base substitution G T intron_variant BRCA-EU 5 43191441 43191441 single base substitution C T intron_variant BRCA-EU 5 43192219 43192219 single base substitution C A downstream_gene_variant BRCA-EU 5 43194085 43194085 insertion of <=200bp - T downstream_gene_variant BRCA-EU 5 43194356 43194356 deletion of <=200bp G - downstream_gene_variant BRCA-EU 5 43196389 43196389 single base substitution A G downstream_gene_variant BRCA-EU 5 43196392 43196392 single base substitution G A downstream_gene_variant BRCA-EU 5 43196692 43196692 single base substitution G A downstream_gene_variant BRCA-FR 5 43068034 43068034 single base substitution T A intron_variant BRCA-FR 5 43068034 43068034 single base substitution T A upstream_gene_variant BRCA-FR 5 43069067 43069067 single base substitution G A intron_variant BRCA-FR 5 43069094 43069094 single base substitution A C intron_variant BRCA-FR 5 43069677 43069677 single base substitution A G intron_variant BRCA-FR 5 43070984 43070984 single base substitution C T intron_variant BRCA-FR 5 43076624 43076624 single base substitution G C intron_variant BRCA-FR 5 43076962 43076962 single base substitution G C intron_variant BRCA-FR 5 43079075 43079075 single base substitution C T intron_variant BRCA-FR 5 43079433 43079433 single base substitution G T intron_variant BRCA-FR 5 43079462 43079462 single base substitution G A intron_variant BRCA-FR 5 43080210 43080210 single base substitution G A exon_variant BRCA-FR 5 43080210 43080210 single base substitution G A intron_variant BRCA-FR 5 43080636 43080636 single base substitution G A downstream_gene_variant BRCA-FR 5 43080636 43080636 single base substitution G A intron_variant BRCA-FR 5 43092569 43092569 single base substitution C A intron_variant BRCA-FR 5 43100253 43100253 single base substitution C A downstream_gene_variant BRCA-FR 5 43100253 43100253 single base substitution C A intron_variant BRCA-FR 5 43101721 43101721 single base substitution G A downstream_gene_variant BRCA-FR 5 43101721 43101721 single base substitution G A intron_variant BRCA-FR 5 43109383 43109383 single base substitution C T intron_variant BRCA-FR 5 43127814 43127814 single base substitution G C downstream_gene_variant BRCA-FR 5 43127814 43127814 single base substitution G C intron_variant BRCA-FR 5 43136106 43136106 single base substitution A G intron_variant BRCA-FR 5 43138539 43138539 single base substitution G T intron_variant BRCA-FR 5 43139500 43139500 single base substitution G A intron_variant BRCA-FR 5 43151597 43151597 single base substitution C T intron_variant BRCA-FR 5 43158978 43158978 single base substitution C G intron_variant BRCA-FR 5 43158978 43158978 single base substitution C G upstream_gene_variant BRCA-FR 5 43170869 43170869 single base substitution G T intron_variant BRCA-FR 5 43170869 43170869 single base substitution G T upstream_gene_variant BRCA-FR 5 43185090 43185090 single base substitution G C intron_variant BRCA-FR 5 43186864 43186864 single base substitution G A intron_variant BRCA-FR 5 43196692 43196692 single base substitution G A downstream_gene_variant BRCA-UK 5 43069611 43069611 single base substitution C G intron_variant BRCA-UK 5 43127624 43127624 single base substitution C G downstream_gene_variant BRCA-UK 5 43127624 43127624 single base substitution C G intron_variant BRCA-UK 5 43166555 43166555 single base substitution T C downstream_gene_variant BRCA-UK 5 43166555 43166555 single base substitution T C intron_variant BRCA-UK 5 43168671 43168671 single base substitution G A intron_variant BRCA-UK 5 43168671 43168671 single base substitution G A upstream_gene_variant BRCA-UK 5 43196991 43196991 single base substitution C T downstream_gene_variant BRCA-US 5 43161487 43161487 single base substitution G A 3_prime_UTR_variant BRCA-US 5 43161487 43161487 single base substitution G A downstream_gene_variant BRCA-US 5 43161487 43161487 single base substitution G A exon_variant BRCA-US 5 43161487 43161487 single base substitution G A intron_variant BRCA-US 5 43161487 43161487 single base substitution G A missense_variant V170I 508G>A BRCA-US 5 43161487 43161487 single base substitution G A upstream_gene_variant BRCA-US 5 43161509 43161509 single base substitution T C 3_prime_UTR_variant BRCA-US 5 43161509 43161509 single base substitution T C downstream_gene_variant BRCA-US 5 43161509 43161509 single base substitution T C exon_variant BRCA-US 5 43161509 43161509 single base substitution T C intron_variant BRCA-US 5 43161509 43161509 single base substitution T C missense_variant I177T 530T>C BRCA-US 5 43161509 43161509 single base substitution T C upstream_gene_variant BRCA-US 5 43161888 43161888 single base substitution G C 3_prime_UTR_variant BRCA-US 5 43161888 43161888 single base substitution G C downstream_gene_variant BRCA-US 5 43161888 43161888 single base substitution G C intron_variant BRCA-US 5 43161888 43161888 single base substitution G C missense_variant W269C 807G>C BRCA-US 5 43161888 43161888 single base substitution G C missense_variant W303C 909G>C BRCA-US 5 43161888 43161888 single base substitution G C upstream_gene_variant BRCA-US 5 43161931 43161931 single base substitution A G 3_prime_UTR_variant BRCA-US 5 43161931 43161931 single base substitution A G downstream_gene_variant BRCA-US 5 43161931 43161931 single base substitution A G intron_variant BRCA-US 5 43161931 43161931 single base substitution A G missense_variant S284G 850A>G BRCA-US 5 43161931 43161931 single base substitution A G missense_variant S318G 952A>G BRCA-US 5 43161931 43161931 single base substitution A G upstream_gene_variant BRCA-US 5 43174618 43174618 single base substitution C A 3_prime_UTR_variant BRCA-US 5 43174618 43174618 single base substitution C A exon_variant BRCA-US 5 43174618 43174618 single base substitution C A intron_variant BRCA-US 5 43174618 43174618 single base substitution C A missense_variant P385T 1153C>A BRCA-US 5 43174618 43174618 single base substitution C A missense_variant P419T 1255C>A BRCA-US 5 43174806 43174806 single base substitution A G 3_prime_UTR_variant BRCA-US 5 43174806 43174806 single base substitution A G downstream_gene_variant BRCA-US 5 43174806 43174806 single base substitution A G intron_variant BRCA-US 5 43174806 43174806 single base substitution A G synonymous_variant L447L 1341A>G BRCA-US 5 43174806 43174806 single base substitution A G synonymous_variant L481L 1443A>G BRCA-US 5 43175004 43175004 single base substitution G A 3_prime_UTR_variant BRCA-US 5 43175004 43175004 single base substitution G A downstream_gene_variant BRCA-US 5 43175004 43175004 single base substitution G A intron_variant BRCA-US 5 43175004 43175004 single base substitution G A synonymous_variant R513R 1539G>A BRCA-US 5 43175004 43175004 single base substitution G A synonymous_variant R547R 1641G>A BRCA-US 5 43175143 43175143 single base substitution G C 3_prime_UTR_variant BRCA-US 5 43175143 43175143 single base substitution G C downstream_gene_variant BRCA-US 5 43175143 43175143 single base substitution G C intron_variant BRCA-US 5 43175143 43175143 single base substitution G C missense_variant D560H 1678G>C BRCA-US 5 43175143 43175143 single base substitution G C missense_variant D594H 1780G>C BTCA-JP 5 43123288 43123288 deletion of <=200bp T - downstream_gene_variant BTCA-JP 5 43123288 43123288 deletion of <=200bp T - intron_variant BTCA-JP 5 43161801 43161801 single base substitution C G 3_prime_UTR_variant BTCA-JP 5 43161801 43161801 single base substitution C G downstream_gene_variant BTCA-JP 5 43161801 43161801 single base substitution C G intron_variant BTCA-JP 5 43161801 43161801 single base substitution C G stop_gained Y274* 822C>G BTCA-JP 5 43161801 43161801 single base substitution C G upstream_gene_variant BTCA-JP 5 43175121 43175121 single base substitution G T 3_prime_UTR_variant BTCA-JP 5 43175121 43175121 single base substitution G T downstream_gene_variant BTCA-JP 5 43175121 43175121 single base substitution G T intron_variant BTCA-JP 5 43175121 43175121 single base substitution G T missense_variant E552D 1656G>T BTCA-JP 5 43175121 43175121 single base substitution G T missense_variant E586D 1758G>T CESC-US 5 43161601 43161601 single base substitution G A 3_prime_UTR_variant CESC-US 5 43161601 43161601 single base substitution G A downstream_gene_variant CESC-US 5 43161601 43161601 single base substitution G A exon_variant CESC-US 5 43161601 43161601 single base substitution G A intron_variant CESC-US 5 43161601 43161601 single base substitution G A missense_variant D208N 622G>A CESC-US 5 43161601 43161601 single base substitution G A upstream_gene_variant CESC-US 5 43174963 43174963 single base substitution G C 3_prime_UTR_variant CESC-US 5 43174963 43174963 single base substitution G C downstream_gene_variant CESC-US 5 43174963 43174963 single base substitution G C intron_variant CESC-US 5 43174963 43174963 single base substitution G C missense_variant E500Q 1498G>C CESC-US 5 43174963 43174963 single base substitution G C missense_variant E534Q 1600G>C CLLE-ES 5 43070802 43070802 single base substitution C T intron_variant COAD-US 5 43161351 43161351 single base substitution G A intron_variant COAD-US 5 43161351 43161351 single base substitution G A splice_region_variant COAD-US 5 43161351 43161351 single base substitution G A upstream_gene_variant COAD-US 5 43161406 43161406 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 5 43161406 43161406 deletion of <=200bp A - downstream_gene_variant COAD-US 5 43161406 43161406 deletion of <=200bp A - exon_variant COAD-US 5 43161406 43161406 deletion of <=200bp A - frameshift_variant K143 COAD-US 5 43161406 43161406 deletion of <=200bp A - intron_variant COAD-US 5 43161406 43161406 deletion of <=200bp A - upstream_gene_variant COAD-US 5 43161584 43161584 single base substitution G A 3_prime_UTR_variant COAD-US 5 43161584 43161584 single base substitution G A downstream_gene_variant COAD-US 5 43161584 43161584 single base substitution G A exon_variant COAD-US 5 43161584 43161584 single base substitution G A intron_variant COAD-US 5 43161584 43161584 single base substitution G A missense_variant S202N 605G>A COAD-US 5 43161584 43161584 single base substitution G A upstream_gene_variant COAD-US 5 43161871 43161871 single base substitution C A 3_prime_UTR_variant COAD-US 5 43161871 43161871 single base substitution C A downstream_gene_variant COAD-US 5 43161871 43161871 single base substitution C A intron_variant COAD-US 5 43161871 43161871 single base substitution C A missense_variant L264I 790C>A COAD-US 5 43161871 43161871 single base substitution C A missense_variant L298I 892C>A COAD-US 5 43161871 43161871 single base substitution C A upstream_gene_variant COAD-US 5 43173517 43173517 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 5 43173517 43173517 deletion of <=200bp A - exon_variant COAD-US 5 43173517 43173517 deletion of <=200bp A - frameshift_variant A350 COAD-US 5 43173517 43173517 deletion of <=200bp A - frameshift_variant A384 COAD-US 5 43173517 43173517 deletion of <=200bp A - intron_variant COAD-US 5 43174994 43174994 single base substitution A G 3_prime_UTR_variant COAD-US 5 43174994 43174994 single base substitution A G downstream_gene_variant COAD-US 5 43174994 43174994 single base substitution A G intron_variant COAD-US 5 43174994 43174994 single base substitution A G missense_variant H510R 1529A>G COAD-US 5 43174994 43174994 single base substitution A G missense_variant H544R 1631A>G COCA-CN 5 43065456 43065456 single base substitution T A intron_variant COCA-CN 5 43065456 43065456 single base substitution T A upstream_gene_variant COCA-CN 5 43075250 43075250 single base substitution A G intron_variant COCA-CN 5 43088895 43088895 single base substitution C T intron_variant COCA-CN 5 43105856 43105856 single base substitution T A intron_variant COCA-CN 5 43122346 43122346 single base substitution G C downstream_gene_variant COCA-CN 5 43122346 43122346 single base substitution G C intron_variant COCA-CN 5 43123360 43123360 single base substitution C A downstream_gene_variant COCA-CN 5 43123360 43123360 single base substitution C A exon_variant COCA-CN 5 43123360 43123360 single base substitution C A missense_variant F58L 174C>A COCA-CN 5 43123360 43123360 single base substitution C A splice_region_variant COCA-CN 5 43158962 43158962 single base substitution C T intron_variant COCA-CN 5 43158962 43158962 single base substitution C T upstream_gene_variant COCA-CN 5 43161263 43161263 single base substitution A C intron_variant COCA-CN 5 43161263 43161263 single base substitution A C upstream_gene_variant COCA-CN 5 43161301 43161301 single base substitution T C intron_variant COCA-CN 5 43161301 43161301 single base substitution T C upstream_gene_variant COCA-CN 5 43166364 43166364 single base substitution C T downstream_gene_variant COCA-CN 5 43166364 43166364 single base substitution C T intron_variant COCA-CN 5 43175744 43175744 single base substitution C T 3_prime_UTR_variant COCA-CN 5 43175744 43175744 single base substitution C T downstream_gene_variant COCA-CN 5 43175744 43175744 single base substitution C T intron_variant COCA-CN 5 43187195 43187195 single base substitution T A intron_variant EOPC-DE 5 43125860 43125860 single base substitution C A downstream_gene_variant EOPC-DE 5 43125860 43125860 single base substitution C A intron_variant EOPC-DE 5 43158678 43158678 single base substitution C T intron_variant EOPC-DE 5 43158678 43158678 single base substitution C T upstream_gene_variant ESAD-UK 5 43060284 43060284 single base substitution C T upstream_gene_variant ESAD-UK 5 43060359 43060359 single base substitution A C upstream_gene_variant ESAD-UK 5 43061373 43061373 single base substitution A G upstream_gene_variant ESAD-UK 5 43064173 43064173 single base substitution G T upstream_gene_variant ESAD-UK 5 43065457 43065457 single base substitution T A intron_variant ESAD-UK 5 43065457 43065457 single base substitution T A upstream_gene_variant ESAD-UK 5 43070508 43070508 single base substitution C G intron_variant ESAD-UK 5 43072860 43072860 single base substitution T C intron_variant ESAD-UK 5 43073388 43073388 single base substitution G A intron_variant ESAD-UK 5 43073706 43073706 single base substitution G A intron_variant ESAD-UK 5 43074559 43074559 single base substitution G A intron_variant ESAD-UK 5 43076998 43076998 single base substitution T A intron_variant ESAD-UK 5 43077176 43077176 single base substitution G A intron_variant ESAD-UK 5 43077706 43077706 single base substitution G A intron_variant ESAD-UK 5 43078464 43078464 single base substitution G A intron_variant ESAD-UK 5 43080944 43080944 single base substitution G A downstream_gene_variant ESAD-UK 5 43080944 43080944 single base substitution G A intron_variant ESAD-UK 5 43082499 43082499 single base substitution C A downstream_gene_variant ESAD-UK 5 43082499 43082499 single base substitution C A intron_variant ESAD-UK 5 43090701 43090701 single base substitution G T intron_variant ESAD-UK 5 43092757 43092757 single base substitution T G intron_variant ESAD-UK 5 43093318 43093318 single base substitution G C exon_variant ESAD-UK 5 43093318 43093318 single base substitution G C intron_variant ESAD-UK 5 43095342 43095342 single base substitution T A downstream_gene_variant ESAD-UK 5 43095342 43095342 single base substitution T A intron_variant ESAD-UK 5 43096506 43096506 single base substitution G C downstream_gene_variant ESAD-UK 5 43096506 43096506 single base substitution G C intron_variant ESAD-UK 5 43096668 43096668 single base substitution G T downstream_gene_variant ESAD-UK 5 43096668 43096668 single base substitution G T intron_variant ESAD-UK 5 43099118 43099118 single base substitution C G intron_variant ESAD-UK 5 43099710 43099710 single base substitution A G downstream_gene_variant ESAD-UK 5 43099710 43099710 single base substitution A G intron_variant ESAD-UK 5 43100474 43100474 insertion of <=200bp - TTATTTATTTA downstream_gene_variant ESAD-UK 5 43100474 43100474 insertion of <=200bp - TTATTTATTTA intron_variant ESAD-UK 5 43100660 43100660 single base substitution T A downstream_gene_variant ESAD-UK 5 43100660 43100660 single base substitution T A intron_variant ESAD-UK 5 43101530 43101530 single base substitution A C downstream_gene_variant ESAD-UK 5 43101530 43101530 single base substitution A C intron_variant ESAD-UK 5 43102647 43102647 single base substitution C T downstream_gene_variant ESAD-UK 5 43102647 43102647 single base substitution C T intron_variant ESAD-UK 5 43105875 43105875 single base substitution G A intron_variant ESAD-UK 5 43106696 43106696 single base substitution C G intron_variant ESAD-UK 5 43106833 43106833 single base substitution G T intron_variant ESAD-UK 5 43106889 43106889 insertion of <=200bp - G intron_variant ESAD-UK 5 43106964 43106964 single base substitution C T intron_variant ESAD-UK 5 43108452 43108452 single base substitution G T intron_variant ESAD-UK 5 43108782 43108782 single base substitution C T intron_variant ESAD-UK 5 43109039 43109039 single base substitution G C intron_variant ESAD-UK 5 43111939 43111939 single base substitution C A intron_variant ESAD-UK 5 43115886 43115886 single base substitution A T intron_variant ESAD-UK 5 43115894 43115894 single base substitution A C intron_variant ESAD-UK 5 43119157 43119157 single base substitution T G intron_variant ESAD-UK 5 43119157 43119157 single base substitution T G upstream_gene_variant ESAD-UK 5 43120990 43120990 single base substitution T G 5_prime_UTR_variant ESAD-UK 5 43120990 43120990 single base substitution T G intron_variant ESAD-UK 5 43120990 43120990 single base substitution T G upstream_gene_variant ESAD-UK 5 43121091 43121091 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 5 43121091 43121091 single base substitution C G exon_variant ESAD-UK 5 43121091 43121091 single base substitution C G intron_variant ESAD-UK 5 43121091 43121091 single base substitution C G upstream_gene_variant ESAD-UK 5 43121985 43121985 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 5 43121985 43121985 single base substitution C T intron_variant ESAD-UK 5 43121985 43121985 single base substitution C T upstream_gene_variant ESAD-UK 5 43122952 43122952 single base substitution C G downstream_gene_variant ESAD-UK 5 43122952 43122952 single base substitution C G intron_variant ESAD-UK 5 43123163 43123164 deletion of <=200bp AT - downstream_gene_variant ESAD-UK 5 43123163 43123164 deletion of <=200bp AT - intron_variant ESAD-UK 5 43124630 43124630 single base substitution G C downstream_gene_variant ESAD-UK 5 43124630 43124630 single base substitution G C exon_variant ESAD-UK 5 43124630 43124630 single base substitution G C intron_variant ESAD-UK 5 43128118 43128118 single base substitution C A downstream_gene_variant ESAD-UK 5 43128118 43128118 single base substitution C A intron_variant ESAD-UK 5 43137587 43137587 deletion of <=200bp A - intron_variant ESAD-UK 5 43138503 43138503 single base substitution C T intron_variant ESAD-UK 5 43138783 43138786 deletion of <=200bp AGAA - intron_variant ESAD-UK 5 43142073 43142073 single base substitution T C intron_variant ESAD-UK 5 43142442 43142442 single base substitution G A intron_variant ESAD-UK 5 43142589 43142589 single base substitution A G intron_variant ESAD-UK 5 43144877 43144877 single base substitution C G intron_variant ESAD-UK 5 43145090 43145090 single base substitution G A intron_variant ESAD-UK 5 43145333 43145333 single base substitution C T intron_variant ESAD-UK 5 43145579 43145579 single base substitution A G intron_variant ESAD-UK 5 43145586 43145586 single base substitution C T intron_variant ESAD-UK 5 43146695 43146695 single base substitution T C intron_variant ESAD-UK 5 43149427 43149427 single base substitution C T intron_variant ESAD-UK 5 43150837 43150837 single base substitution C T intron_variant ESAD-UK 5 43151683 43151683 single base substitution C T intron_variant ESAD-UK 5 43158256 43158256 single base substitution G A intron_variant ESAD-UK 5 43158256 43158256 single base substitution G A upstream_gene_variant ESAD-UK 5 43158257 43158257 single base substitution A T intron_variant ESAD-UK 5 43158257 43158257 single base substitution A T upstream_gene_variant ESAD-UK 5 43158638 43158638 single base substitution C T intron_variant ESAD-UK 5 43158638 43158638 single base substitution C T upstream_gene_variant ESAD-UK 5 43158982 43158982 single base substitution G C intron_variant ESAD-UK 5 43158982 43158982 single base substitution G C upstream_gene_variant ESAD-UK 5 43161244 43161244 insertion of <=200bp - T intron_variant ESAD-UK 5 43161244 43161244 insertion of <=200bp - T upstream_gene_variant ESAD-UK 5 43161610 43161610 single base substitution C G 3_prime_UTR_variant ESAD-UK 5 43161610 43161610 single base substitution C G downstream_gene_variant ESAD-UK 5 43161610 43161610 single base substitution C G exon_variant ESAD-UK 5 43161610 43161610 single base substitution C G intron_variant ESAD-UK 5 43161610 43161610 single base substitution C G missense_variant L211V 631C>G ESAD-UK 5 43161610 43161610 single base substitution C G upstream_gene_variant ESAD-UK 5 43161833 43161833 single base substitution C G 3_prime_UTR_variant ESAD-UK 5 43161833 43161833 single base substitution C G downstream_gene_variant ESAD-UK 5 43161833 43161833 single base substitution C G exon_variant ESAD-UK 5 43161833 43161833 single base substitution C G intron_variant ESAD-UK 5 43161833 43161833 single base substitution C G missense_variant T251S 752C>G ESAD-UK 5 43161833 43161833 single base substitution C G missense_variant T285S 854C>G ESAD-UK 5 43161833 43161833 single base substitution C G upstream_gene_variant ESAD-UK 5 43166312 43166313 deletion of <=200bp TT - downstream_gene_variant ESAD-UK 5 43166312 43166313 deletion of <=200bp TT - intron_variant ESAD-UK 5 43167250 43167250 single base substitution G C intron_variant ESAD-UK 5 43167269 43167269 single base substitution A C intron_variant ESAD-UK 5 43170804 43170804 single base substitution G A intron_variant ESAD-UK 5 43170804 43170804 single base substitution G A upstream_gene_variant ESAD-UK 5 43173354 43173354 single base substitution G A exon_variant ESAD-UK 5 43173354 43173354 single base substitution G A intron_variant ESAD-UK 5 43173793 43173793 single base substitution G A intron_variant ESAD-UK 5 43174842 43174842 single base substitution G T 3_prime_UTR_variant ESAD-UK 5 43174842 43174842 single base substitution G T downstream_gene_variant ESAD-UK 5 43174842 43174842 single base substitution G T intron_variant ESAD-UK 5 43174842 43174842 single base substitution G T synonymous_variant V459V 1377G>T ESAD-UK 5 43174842 43174842 single base substitution G T synonymous_variant V493V 1479G>T ESAD-UK 5 43177000 43177000 single base substitution T C downstream_gene_variant ESAD-UK 5 43177000 43177000 single base substitution T C intron_variant ESAD-UK 5 43177633 43177633 single base substitution T G downstream_gene_variant ESAD-UK 5 43177633 43177633 single base substitution T G intron_variant ESAD-UK 5 43178977 43178977 single base substitution G A downstream_gene_variant ESAD-UK 5 43178977 43178977 single base substitution G A intron_variant ESAD-UK 5 43181360 43181360 single base substitution G T downstream_gene_variant ESAD-UK 5 43181360 43181360 single base substitution G T intron_variant ESAD-UK 5 43183600 43183600 single base substitution C T intron_variant ESAD-UK 5 43186559 43186559 single base substitution T A intron_variant ESAD-UK 5 43190871 43190871 single base substitution A C intron_variant ESAD-UK 5 43192422 43192422 single base substitution A G downstream_gene_variant ESAD-UK 5 43194137 43194137 single base substitution G A downstream_gene_variant ESAD-UK 5 43195437 43195437 single base substitution A G downstream_gene_variant ESAD-UK 5 43195601 43195601 single base substitution A T downstream_gene_variant ESCA-CN 5 43161593 43161593 single base substitution C T 3_prime_UTR_variant ESCA-CN 5 43161593 43161593 single base substitution C T downstream_gene_variant ESCA-CN 5 43161593 43161593 single base substitution C T exon_variant ESCA-CN 5 43161593 43161593 single base substitution C T intron_variant ESCA-CN 5 43161593 43161593 single base substitution C T missense_variant S205F 614C>T ESCA-CN 5 43161593 43161593 single base substitution C T upstream_gene_variant ESCA-CN 5 43173500 43173500 single base substitution C T 3_prime_UTR_variant ESCA-CN 5 43173500 43173500 single base substitution C T exon_variant ESCA-CN 5 43173500 43173500 single base substitution C T intron_variant ESCA-CN 5 43173500 43173500 single base substitution C T stop_gained Q345* 1033C>T ESCA-CN 5 43173500 43173500 single base substitution C T stop_gained Q379* 1135C>T KIRC-US 5 43161423 43161423 single base substitution A G 3_prime_UTR_variant KIRC-US 5 43161423 43161423 single base substitution A G downstream_gene_variant KIRC-US 5 43161423 43161423 single base substitution A G exon_variant KIRC-US 5 43161423 43161423 single base substitution A G intron_variant KIRC-US 5 43161423 43161423 single base substitution A G synonymous_variant A148A 444A>G KIRC-US 5 43161423 43161423 single base substitution A G upstream_gene_variant KIRC-US 5 43173498 43173498 single base substitution G A 3_prime_UTR_variant KIRC-US 5 43173498 43173498 single base substitution G A exon_variant KIRC-US 5 43173498 43173498 single base substitution G A intron_variant KIRC-US 5 43173498 43173498 single base substitution G A missense_variant C344Y 1031G>A KIRC-US 5 43173498 43173498 single base substitution G A missense_variant C378Y 1133G>A KIRC-US 5 43175076 43175076 single base substitution C G 3_prime_UTR_variant KIRC-US 5 43175076 43175076 single base substitution C G downstream_gene_variant KIRC-US 5 43175076 43175076 single base substitution C G intron_variant KIRC-US 5 43175076 43175076 single base substitution C G missense_variant I537M 1611C>G KIRC-US 5 43175076 43175076 single base substitution C G missense_variant I571M 1713C>G LAML-KR 5 43063300 43063300 single base substitution A G upstream_gene_variant LAML-KR 5 43069816 43069816 single base substitution T A intron_variant LAML-KR 5 43073433 43073433 single base substitution G T intron_variant LAML-KR 5 43078522 43078522 single base substitution A G intron_variant LAML-KR 5 43087297 43087297 single base substitution A G intron_variant LAML-KR 5 43088678 43088678 single base substitution T A intron_variant LAML-KR 5 43136769 43136769 single base substitution A T intron_variant LAML-KR 5 43158428 43158428 single base substitution G A intron_variant LAML-KR 5 43158428 43158428 single base substitution G A upstream_gene_variant LAML-KR 5 43160559 43160559 single base substitution A G intron_variant LAML-KR 5 43160559 43160559 single base substitution A G upstream_gene_variant LAML-KR 5 43162743 43162743 single base substitution C T downstream_gene_variant LAML-KR 5 43162743 43162743 single base substitution C T intron_variant LAML-KR 5 43188043 43188043 single base substitution T C intron_variant LICA-CN 5 43174900 43174900 single base substitution A T 3_prime_UTR_variant LICA-CN 5 43174900 43174900 single base substitution A T downstream_gene_variant LICA-CN 5 43174900 43174900 single base substitution A T intron_variant LICA-CN 5 43174900 43174900 single base substitution A T missense_variant M479L 1435A>T LICA-CN 5 43174900 43174900 single base substitution A T missense_variant M513L 1537A>T LICA-FR 5 43060829 43060829 single base substitution A C upstream_gene_variant LICA-FR 5 43065645 43065645 single base substitution T G intron_variant LICA-FR 5 43065645 43065645 single base substitution T G upstream_gene_variant LICA-FR 5 43070143 43070144 deletion of <=200bp AA - intron_variant LICA-FR 5 43076602 43076602 single base substitution A G intron_variant LICA-FR 5 43107083 43107083 single base substitution T C intron_variant LICA-FR 5 43122133 43122133 deletion of <=200bp T - 5_prime_UTR_variant LICA-FR 5 43122133 43122133 deletion of <=200bp T - intron_variant LICA-FR 5 43122133 43122133 deletion of <=200bp T - splice_region_variant LICA-FR 5 43122133 43122133 deletion of <=200bp T - upstream_gene_variant LICA-FR 5 43125132 43125132 insertion of <=200bp - A downstream_gene_variant LICA-FR 5 43125132 43125132 insertion of <=200bp - A exon_variant LICA-FR 5 43125132 43125132 insertion of <=200bp - A intron_variant LICA-FR 5 43128809 43128809 single base substitution C A downstream_gene_variant LICA-FR 5 43128809 43128809 single base substitution C A intron_variant LICA-FR 5 43143174 43143174 single base substitution G A intron_variant LICA-FR 5 43166159 43166159 single base substitution A G downstream_gene_variant LICA-FR 5 43166159 43166159 single base substitution A G intron_variant LICA-FR 5 43174622 43174622 single base substitution A T 3_prime_UTR_variant LICA-FR 5 43174622 43174622 single base substitution A T exon_variant LICA-FR 5 43174622 43174622 single base substitution A T intron_variant LICA-FR 5 43174622 43174622 single base substitution A T missense_variant N386I 1157A>T LICA-FR 5 43174622 43174622 single base substitution A T missense_variant N420I 1259A>T LICA-FR 5 43174790 43174790 single base substitution G A 3_prime_UTR_variant LICA-FR 5 43174790 43174790 single base substitution G A downstream_gene_variant LICA-FR 5 43174790 43174790 single base substitution G A intron_variant LICA-FR 5 43174790 43174790 single base substitution G A missense_variant G442E 1325G>A LICA-FR 5 43174790 43174790 single base substitution G A missense_variant G476E 1427G>A LICA-FR 5 43174803 43174803 single base substitution G A 3_prime_UTR_variant LICA-FR 5 43174803 43174803 single base substitution G A downstream_gene_variant LICA-FR 5 43174803 43174803 single base substitution G A intron_variant LICA-FR 5 43174803 43174803 single base substitution G A synonymous_variant V446V 1338G>A LICA-FR 5 43174803 43174803 single base substitution G A synonymous_variant V480V 1440G>A LICA-FR 5 43195764 43195764 deletion of <=200bp A - downstream_gene_variant LICA-FR 5 43196898 43196898 single base substitution A T downstream_gene_variant LIHC-US 5 43161948 43161948 single base substitution T C 3_prime_UTR_variant LIHC-US 5 43161948 43161948 single base substitution T C downstream_gene_variant LIHC-US 5 43161948 43161948 single base substitution T C exon_variant LIHC-US 5 43161948 43161948 single base substitution T C intron_variant LIHC-US 5 43161948 43161948 single base substitution T C synonymous_variant T289T 867T>C LIHC-US 5 43161948 43161948 single base substitution T C synonymous_variant T323T 969T>C LINC-JP 5 43068630 43068630 single base substitution G A intron_variant LINC-JP 5 43071446 43071446 single base substitution A G intron_variant LINC-JP 5 43100658 43100658 single base substitution A G downstream_gene_variant LINC-JP 5 43100658 43100658 single base substitution A G intron_variant LINC-JP 5 43115415 43115415 single base substitution G A intron_variant LINC-JP 5 43122016 43122016 single base substitution C T 5_prime_UTR_variant LINC-JP 5 43122016 43122016 single base substitution C T intron_variant LINC-JP 5 43122016 43122016 single base substitution C T upstream_gene_variant LINC-JP 5 43144712 43144712 single base substitution C T intron_variant LINC-JP 5 43145719 43145719 single base substitution C T intron_variant LINC-JP 5 43147431 43147431 single base substitution A G intron_variant LINC-JP 5 43148466 43148466 single base substitution A G intron_variant LINC-JP 5 43153592 43153592 single base substitution G A intron_variant LINC-JP 5 43153593 43153593 single base substitution C A intron_variant LINC-JP 5 43163613 43163613 single base substitution C A downstream_gene_variant LINC-JP 5 43163613 43163613 single base substitution C A intron_variant LINC-JP 5 43166031 43166031 single base substitution G A downstream_gene_variant LINC-JP 5 43166031 43166031 single base substitution G A intron_variant LINC-JP 5 43169970 43169970 single base substitution G A intron_variant LINC-JP 5 43169970 43169970 single base substitution G A upstream_gene_variant LINC-JP 5 43175139 43175139 single base substitution C T 3_prime_UTR_variant LINC-JP 5 43175139 43175139 single base substitution C T downstream_gene_variant LINC-JP 5 43175139 43175139 single base substitution C T intron_variant LINC-JP 5 43175139 43175139 single base substitution C T synonymous_variant H558H 1674C>T LINC-JP 5 43175139 43175139 single base substitution C T synonymous_variant H592H 1776C>T LINC-JP 5 43175837 43175837 single base substitution T A 3_prime_UTR_variant LINC-JP 5 43175837 43175837 single base substitution T A downstream_gene_variant LINC-JP 5 43175837 43175837 single base substitution T A intron_variant LINC-JP 5 43189517 43189517 single base substitution C T intron_variant LINC-JP 5 43191413 43191413 single base substitution A G intron_variant LINC-JP 5 43192342 43192342 insertion of <=200bp - C downstream_gene_variant LIRI-JP 5 43060490 43060490 single base substitution C T upstream_gene_variant LIRI-JP 5 43060731 43060731 single base substitution C T upstream_gene_variant LIRI-JP 5 43063839 43063839 single base substitution G A upstream_gene_variant LIRI-JP 5 43066847 43066847 single base substitution G A intron_variant LIRI-JP 5 43066847 43066847 single base substitution G A upstream_gene_variant LIRI-JP 5 43068213 43068213 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 5 43068213 43068213 single base substitution G A exon_variant LIRI-JP 5 43068213 43068213 single base substitution G A upstream_gene_variant LIRI-JP 5 43068214 43068214 single base substitution T G 5_prime_UTR_variant LIRI-JP 5 43068214 43068214 single base substitution T G exon_variant LIRI-JP 5 43068214 43068214 single base substitution T G upstream_gene_variant LIRI-JP 5 43068538 43068551 deletion of <=200bp TGCAGAGCCTTTGA - intron_variant LIRI-JP 5 43069172 43069172 single base substitution A G intron_variant LIRI-JP 5 43072903 43072903 single base substitution C T intron_variant LIRI-JP 5 43073581 43073581 single base substitution A G intron_variant LIRI-JP 5 43074932 43074932 single base substitution C T intron_variant LIRI-JP 5 43075250 43075250 single base substitution A G intron_variant LIRI-JP 5 43079042 43079042 single base substitution G A intron_variant LIRI-JP 5 43079675 43079675 single base substitution G A intron_variant LIRI-JP 5 43083133 43083133 single base substitution A G downstream_gene_variant LIRI-JP 5 43083133 43083133 single base substitution A G intron_variant LIRI-JP 5 43083391 43083391 single base substitution A G downstream_gene_variant LIRI-JP 5 43083391 43083391 single base substitution A G intron_variant LIRI-JP 5 43084291 43084291 single base substitution A G downstream_gene_variant LIRI-JP 5 43084291 43084291 single base substitution A G intron_variant LIRI-JP 5 43085346 43085346 single base substitution T C downstream_gene_variant LIRI-JP 5 43085346 43085346 single base substitution T C intron_variant LIRI-JP 5 43086481 43086481 single base substitution A G intron_variant LIRI-JP 5 43089548 43089548 single base substitution G A intron_variant LIRI-JP 5 43090587 43090587 single base substitution G A intron_variant LIRI-JP 5 43095149 43095149 single base substitution C A downstream_gene_variant LIRI-JP 5 43095149 43095149 single base substitution C A intron_variant LIRI-JP 5 43102925 43102925 single base substitution T C downstream_gene_variant LIRI-JP 5 43102925 43102925 single base substitution T C intron_variant LIRI-JP 5 43102936 43102936 single base substitution C T downstream_gene_variant LIRI-JP 5 43102936 43102936 single base substitution C T intron_variant LIRI-JP 5 43103052 43103052 single base substitution C T downstream_gene_variant LIRI-JP 5 43103052 43103052 single base substitution C T intron_variant LIRI-JP 5 43103932 43103932 single base substitution A G downstream_gene_variant LIRI-JP 5 43103932 43103932 single base substitution A G intron_variant LIRI-JP 5 43104301 43104301 single base substitution T C downstream_gene_variant LIRI-JP 5 43104301 43104301 single base substitution T C intron_variant LIRI-JP 5 43105563 43105563 single base substitution A G intron_variant LIRI-JP 5 43111475 43111475 single base substitution A G intron_variant LIRI-JP 5 43111991 43111991 single base substitution C T intron_variant LIRI-JP 5 43112441 43112441 single base substitution C A intron_variant LIRI-JP 5 43114048 43114048 single base substitution A T intron_variant LIRI-JP 5 43115205 43115205 single base substitution A T intron_variant LIRI-JP 5 43116549 43116549 single base substitution C T splice_region_variant LIRI-JP 5 43116549 43116549 single base substitution C T upstream_gene_variant LIRI-JP 5 43120626 43120626 single base substitution C T intron_variant LIRI-JP 5 43120626 43120626 single base substitution C T upstream_gene_variant LIRI-JP 5 43120636 43120636 single base substitution C T intron_variant LIRI-JP 5 43120636 43120636 single base substitution C T upstream_gene_variant LIRI-JP 5 43122622 43122622 single base substitution T G downstream_gene_variant LIRI-JP 5 43122622 43122622 single base substitution T G intron_variant LIRI-JP 5 43123648 43123648 single base substitution A G downstream_gene_variant LIRI-JP 5 43123648 43123648 single base substitution A G exon_variant LIRI-JP 5 43123648 43123648 single base substitution A G intron_variant LIRI-JP 5 43124350 43124350 single base substitution G A downstream_gene_variant LIRI-JP 5 43124350 43124350 single base substitution G A exon_variant LIRI-JP 5 43124350 43124350 single base substitution G A intron_variant LIRI-JP 5 43126371 43126371 single base substitution T A downstream_gene_variant LIRI-JP 5 43126371 43126371 single base substitution T A intron_variant LIRI-JP 5 43127676 43127676 single base substitution A G downstream_gene_variant LIRI-JP 5 43127676 43127676 single base substitution A G intron_variant LIRI-JP 5 43128246 43128246 single base substitution A G downstream_gene_variant LIRI-JP 5 43128246 43128246 single base substitution A G intron_variant LIRI-JP 5 43131987 43131987 single base substitution T G intron_variant LIRI-JP 5 43132025 43132025 single base substitution T C intron_variant LIRI-JP 5 43132495 43132495 single base substitution C T intron_variant LIRI-JP 5 43132861 43132861 single base substitution C T intron_variant LIRI-JP 5 43136996 43136996 single base substitution C T intron_variant LIRI-JP 5 43137376 43137376 single base substitution G A intron_variant LIRI-JP 5 43138374 43138374 single base substitution C A intron_variant LIRI-JP 5 43139942 43139942 single base substitution T G intron_variant LIRI-JP 5 43143562 43143562 single base substitution G A intron_variant LIRI-JP 5 43144529 43144529 single base substitution A C intron_variant LIRI-JP 5 43145293 43145293 single base substitution T G intron_variant LIRI-JP 5 43149233 43149233 single base substitution C T intron_variant LIRI-JP 5 43149740 43149740 single base substitution C T intron_variant LIRI-JP 5 43150619 43150619 single base substitution C T intron_variant LIRI-JP 5 43151524 43151524 single base substitution C T intron_variant LIRI-JP 5 43151822 43151822 single base substitution C T intron_variant LIRI-JP 5 43153467 43153467 single base substitution C A intron_variant LIRI-JP 5 43154639 43154639 single base substitution A G intron_variant LIRI-JP 5 43155016 43155016 single base substitution G A intron_variant LIRI-JP 5 43156778 43156778 single base substitution A G intron_variant LIRI-JP 5 43158138 43158138 single base substitution T G intron_variant LIRI-JP 5 43158138 43158138 single base substitution T G upstream_gene_variant LIRI-JP 5 43158172 43158172 single base substitution G A intron_variant LIRI-JP 5 43158172 43158172 single base substitution G A upstream_gene_variant LIRI-JP 5 43158508 43158508 single base substitution C T intron_variant LIRI-JP 5 43158508 43158508 single base substitution C T upstream_gene_variant LIRI-JP 5 43160352 43160352 single base substitution C G intron_variant LIRI-JP 5 43160352 43160352 single base substitution C G upstream_gene_variant LIRI-JP 5 43161203 43161203 single base substitution T G intron_variant LIRI-JP 5 43161203 43161203 single base substitution T G upstream_gene_variant LIRI-JP 5 43161379 43161379 single base substitution G A 3_prime_UTR_variant LIRI-JP 5 43161379 43161379 single base substitution G A exon_variant LIRI-JP 5 43161379 43161379 single base substitution G A intron_variant LIRI-JP 5 43161379 43161379 single base substitution G A missense_variant E134K 400G>A LIRI-JP 5 43161379 43161379 single base substitution G A upstream_gene_variant LIRI-JP 5 43161970 43161970 single base substitution C T 3_prime_UTR_variant LIRI-JP 5 43161970 43161970 single base substitution C T downstream_gene_variant LIRI-JP 5 43161970 43161970 single base substitution C T exon_variant LIRI-JP 5 43161970 43161970 single base substitution C T intron_variant LIRI-JP 5 43161970 43161970 single base substitution C T stop_gained Q297* 889C>T LIRI-JP 5 43161970 43161970 single base substitution C T stop_gained Q331* 991C>T LIRI-JP 5 43166009 43166009 single base substitution A T downstream_gene_variant LIRI-JP 5 43166009 43166009 single base substitution A T intron_variant LIRI-JP 5 43166055 43166055 single base substitution G C downstream_gene_variant LIRI-JP 5 43166055 43166055 single base substitution G C intron_variant LIRI-JP 5 43168016 43168016 single base substitution A T intron_variant LIRI-JP 5 43168660 43168660 single base substitution G A intron_variant LIRI-JP 5 43168660 43168660 single base substitution G A upstream_gene_variant LIRI-JP 5 43169195 43169195 single base substitution T C intron_variant LIRI-JP 5 43169195 43169195 single base substitution T C upstream_gene_variant LIRI-JP 5 43170761 43170761 single base substitution G A intron_variant LIRI-JP 5 43170761 43170761 single base substitution G A upstream_gene_variant LIRI-JP 5 43173805 43173805 single base substitution A C intron_variant LIRI-JP 5 43173864 43173864 single base substitution A G intron_variant LIRI-JP 5 43174417 43174417 single base substitution C G intron_variant LIRI-JP 5 43174857 43174857 single base substitution C T 3_prime_UTR_variant LIRI-JP 5 43174857 43174857 single base substitution C T downstream_gene_variant LIRI-JP 5 43174857 43174857 single base substitution C T intron_variant LIRI-JP 5 43174857 43174857 single base substitution C T synonymous_variant V464V 1392C>T LIRI-JP 5 43174857 43174857 single base substitution C T synonymous_variant V498V 1494C>T LIRI-JP 5 43176038 43176038 single base substitution G A 3_prime_UTR_variant LIRI-JP 5 43176038 43176038 single base substitution G A downstream_gene_variant LIRI-JP 5 43176038 43176038 single base substitution G A intron_variant LIRI-JP 5 43176848 43176848 single base substitution G C downstream_gene_variant LIRI-JP 5 43176848 43176848 single base substitution G C intron_variant LIRI-JP 5 43177487 43177487 single base substitution A G downstream_gene_variant LIRI-JP 5 43177487 43177487 single base substitution A G intron_variant LIRI-JP 5 43178667 43178667 single base substitution T C downstream_gene_variant LIRI-JP 5 43178667 43178667 single base substitution T C intron_variant LIRI-JP 5 43179094 43179094 single base substitution A T downstream_gene_variant LIRI-JP 5 43179094 43179094 single base substitution A T intron_variant LIRI-JP 5 43181197 43181197 single base substitution C T downstream_gene_variant LIRI-JP 5 43181197 43181197 single base substitution C T intron_variant LIRI-JP 5 43181241 43181241 single base substitution C G downstream_gene_variant LIRI-JP 5 43181241 43181241 single base substitution C G intron_variant LIRI-JP 5 43182791 43182791 single base substitution A T intron_variant LIRI-JP 5 43185452 43185452 single base substitution T A intron_variant LIRI-JP 5 43185456 43185456 single base substitution T G intron_variant LIRI-JP 5 43185476 43185476 single base substitution A G intron_variant LIRI-JP 5 43186119 43186119 single base substitution G T intron_variant LIRI-JP 5 43187151 43187151 single base substitution T A intron_variant LIRI-JP 5 43187166 43187166 single base substitution A G intron_variant LIRI-JP 5 43188703 43188703 single base substitution A G intron_variant LIRI-JP 5 43189075 43189075 single base substitution C T intron_variant LIRI-JP 5 43189124 43189124 single base substitution G T intron_variant LIRI-JP 5 43194544 43194544 single base substitution T C downstream_gene_variant LIRI-JP 5 43194799 43194799 insertion of <=200bp - TTCA downstream_gene_variant LIRI-JP 5 43195793 43195793 single base substitution C G downstream_gene_variant LIRI-JP 5 43196439 43196439 single base substitution G A downstream_gene_variant LUSC-KR 5 43063369 43063369 single base substitution G A upstream_gene_variant LUSC-KR 5 43064207 43064207 single base substitution G C upstream_gene_variant LUSC-KR 5 43072794 43072794 single base substitution G T intron_variant LUSC-KR 5 43075396 43075396 single base substitution G C intron_variant LUSC-KR 5 43078481 43078481 single base substitution G C intron_variant LUSC-KR 5 43080381 43080381 single base substitution C T exon_variant LUSC-KR 5 43080381 43080381 single base substitution C T intron_variant LUSC-KR 5 43080946 43080946 single base substitution A G downstream_gene_variant LUSC-KR 5 43080946 43080946 single base substitution A G intron_variant LUSC-KR 5 43081616 43081616 single base substitution G A downstream_gene_variant LUSC-KR 5 43081616 43081616 single base substitution G A intron_variant LUSC-KR 5 43082565 43082565 single base substitution G A downstream_gene_variant LUSC-KR 5 43082565 43082565 single base substitution G A intron_variant LUSC-KR 5 43087045 43087045 single base substitution G A intron_variant LUSC-KR 5 43087393 43087393 single base substitution T C intron_variant LUSC-KR 5 43088236 43088236 single base substitution T C intron_variant LUSC-KR 5 43088285 43088285 single base substitution A C intron_variant LUSC-KR 5 43088350 43088350 single base substitution G A intron_variant LUSC-KR 5 43088677 43088677 single base substitution G T intron_variant LUSC-KR 5 43088678 43088678 single base substitution T A intron_variant LUSC-KR 5 43089113 43089113 single base substitution C A intron_variant LUSC-KR 5 43092569 43092569 single base substitution C T intron_variant LUSC-KR 5 43094229 43094229 single base substitution G T downstream_gene_variant LUSC-KR 5 43094229 43094229 single base substitution G T intron_variant LUSC-KR 5 43094577 43094577 single base substitution C T downstream_gene_variant LUSC-KR 5 43094577 43094577 single base substitution C T intron_variant LUSC-KR 5 43096765 43096765 single base substitution G C downstream_gene_variant LUSC-KR 5 43096765 43096765 single base substitution G C intron_variant LUSC-KR 5 43099126 43099126 single base substitution G A exon_variant LUSC-KR 5 43099126 43099126 single base substitution G A intron_variant LUSC-KR 5 43099515 43099515 single base substitution G C downstream_gene_variant LUSC-KR 5 43099515 43099515 single base substitution G C intron_variant LUSC-KR 5 43099633 43099633 single base substitution G A downstream_gene_variant LUSC-KR 5 43099633 43099633 single base substitution G A intron_variant LUSC-KR 5 43100479 43100479 single base substitution G C downstream_gene_variant LUSC-KR 5 43100479 43100479 single base substitution G C intron_variant LUSC-KR 5 43101911 43101911 single base substitution G C downstream_gene_variant LUSC-KR 5 43101911 43101911 single base substitution G C intron_variant LUSC-KR 5 43102212 43102212 single base substitution G A downstream_gene_variant LUSC-KR 5 43102212 43102212 single base substitution G A intron_variant LUSC-KR 5 43105001 43105001 single base substitution C G intron_variant LUSC-KR 5 43107490 43107490 single base substitution G C intron_variant LUSC-KR 5 43110856 43110856 single base substitution A G intron_variant LUSC-KR 5 43114497 43114497 single base substitution G T intron_variant LUSC-KR 5 43116206 43116206 single base substitution G A intron_variant LUSC-KR 5 43116206 43116206 single base substitution G A upstream_gene_variant LUSC-KR 5 43134331 43134331 single base substitution A G intron_variant LUSC-KR 5 43134818 43134818 single base substitution G T intron_variant LUSC-KR 5 43135469 43135469 single base substitution G T intron_variant LUSC-KR 5 43142210 43142210 single base substitution G A intron_variant LUSC-KR 5 43144339 43144339 single base substitution C T intron_variant LUSC-KR 5 43156586 43156586 single base substitution G C intron_variant LUSC-KR 5 43163007 43163007 single base substitution C A downstream_gene_variant LUSC-KR 5 43163007 43163007 single base substitution C A intron_variant LUSC-KR 5 43170753 43170753 single base substitution G T intron_variant LUSC-KR 5 43170753 43170753 single base substitution G T upstream_gene_variant LUSC-KR 5 43173567 43173567 single base substitution A G intron_variant LUSC-KR 5 43175103 43175103 single base substitution C T 3_prime_UTR_variant LUSC-KR 5 43175103 43175103 single base substitution C T downstream_gene_variant LUSC-KR 5 43175103 43175103 single base substitution C T intron_variant LUSC-KR 5 43175103 43175103 single base substitution C T synonymous_variant S546S 1638C>T LUSC-KR 5 43175103 43175103 single base substitution C T synonymous_variant S580S 1740C>T LUSC-KR 5 43175369 43175369 single base substitution G T 3_prime_UTR_variant LUSC-KR 5 43175369 43175369 single base substitution G T downstream_gene_variant LUSC-KR 5 43175369 43175369 single base substitution G T intron_variant LUSC-KR 5 43179935 43179935 single base substitution G T 3_prime_UTR_variant LUSC-KR 5 43179935 43179935 single base substitution G T downstream_gene_variant LUSC-KR 5 43180605 43180605 single base substitution A G downstream_gene_variant LUSC-KR 5 43180605 43180605 single base substitution A G intron_variant LUSC-KR 5 43180757 43180757 single base substitution G C downstream_gene_variant LUSC-KR 5 43180757 43180757 single base substitution G C intron_variant LUSC-KR 5 43183361 43183361 single base substitution C T intron_variant LUSC-KR 5 43186991 43186991 single base substitution A G intron_variant LUSC-KR 5 43188742 43188742 single base substitution A G intron_variant LUSC-KR 5 43188891 43188891 single base substitution C A intron_variant LUSC-KR 5 43192367 43192367 single base substitution C G downstream_gene_variant LUSC-KR 5 43192429 43192429 single base substitution G A downstream_gene_variant LUSC-KR 5 43193687 43193687 single base substitution T A downstream_gene_variant LUSC-KR 5 43194491 43194491 single base substitution A T downstream_gene_variant LUSC-KR 5 43195746 43195746 single base substitution C A downstream_gene_variant LUSC-KR 5 43195973 43195973 single base substitution A T downstream_gene_variant LUSC-US 5 43122223 43122223 single base substitution G T exon_variant LUSC-US 5 43122223 43122223 single base substitution G T missense_variant R23L 68G>T LUSC-US 5 43122223 43122223 single base substitution G T missense_variant R71L 212G>T LUSC-US 5 43139363 43139363 single base substitution C T exon_variant LUSC-US 5 43139363 43139363 single base substitution C T intron_variant LUSC-US 5 43139363 43139363 single base substitution C T missense_variant A108V 323C>T LUSC-US 5 43175067 43175067 single base substitution C A 3_prime_UTR_variant LUSC-US 5 43175067 43175067 single base substitution C A downstream_gene_variant LUSC-US 5 43175067 43175067 single base substitution C A intron_variant LUSC-US 5 43175067 43175067 single base substitution C A synonymous_variant T534T 1602C>A LUSC-US 5 43175067 43175067 single base substitution C A synonymous_variant T568T 1704C>A MALY-DE 5 43061684 43061684 single base substitution G A upstream_gene_variant MALY-DE 5 43065341 43065341 single base substitution A G intron_variant MALY-DE 5 43065341 43065341 single base substitution A G upstream_gene_variant MALY-DE 5 43079431 43079431 single base substitution C T intron_variant MALY-DE 5 43084585 43084585 single base substitution T C downstream_gene_variant MALY-DE 5 43084585 43084585 single base substitution T C intron_variant MALY-DE 5 43095057 43095057 single base substitution G T downstream_gene_variant MALY-DE 5 43095057 43095057 single base substitution G T intron_variant MALY-DE 5 43099926 43099926 single base substitution A G downstream_gene_variant MALY-DE 5 43099926 43099926 single base substitution A G intron_variant MALY-DE 5 43103799 43103799 single base substitution A G downstream_gene_variant MALY-DE 5 43103799 43103799 single base substitution A G intron_variant MALY-DE 5 43104085 43104085 single base substitution T A downstream_gene_variant MALY-DE 5 43104085 43104085 single base substitution T A intron_variant MALY-DE 5 43112398 43112398 single base substitution C T intron_variant MALY-DE 5 43136485 43136485 single base substitution C A intron_variant MALY-DE 5 43137456 43137456 single base substitution A T intron_variant MALY-DE 5 43137690 43137690 single base substitution G C intron_variant MALY-DE 5 43138265 43138265 single base substitution A G intron_variant MALY-DE 5 43174581 43174581 single base substitution G A 3_prime_UTR_variant MALY-DE 5 43174581 43174581 single base substitution G A exon_variant MALY-DE 5 43174581 43174581 single base substitution G A intron_variant MALY-DE 5 43174581 43174581 single base substitution G A synonymous_variant Q372Q 1116G>A MALY-DE 5 43174581 43174581 single base substitution G A synonymous_variant Q406Q 1218G>A MALY-DE 5 43182063 43182063 single base substitution A T intron_variant MALY-DE 5 43183601 43183601 single base substitution G A intron_variant MALY-DE 5 43190479 43190479 single base substitution A G intron_variant MALY-DE 5 43192973 43192973 single base substitution C A downstream_gene_variant MALY-DE 5 43195330 43195330 single base substitution T G downstream_gene_variant MELA-AU 5 43061216 43061216 single base substitution G A upstream_gene_variant MELA-AU 5 43061542 43061542 single base substitution G A upstream_gene_variant MELA-AU 5 43062010 43062010 single base substitution G A upstream_gene_variant MELA-AU 5 43062196 43062196 single base substitution G A upstream_gene_variant MELA-AU 5 43062460 43062460 single base substitution G A upstream_gene_variant MELA-AU 5 43063666 43063666 single base substitution G A upstream_gene_variant MELA-AU 5 43064103 43064103 single base substitution G A upstream_gene_variant MELA-AU 5 43066412 43066412 single base substitution A T intron_variant MELA-AU 5 43066412 43066412 single base substitution A T upstream_gene_variant MELA-AU 5 43067040 43067040 single base substitution A G intron_variant MELA-AU 5 43067040 43067040 single base substitution A G upstream_gene_variant MELA-AU 5 43068026 43068026 single base substitution C T intron_variant MELA-AU 5 43068026 43068026 single base substitution C T upstream_gene_variant MELA-AU 5 43068027 43068027 single base substitution C T intron_variant MELA-AU 5 43068027 43068027 single base substitution C T upstream_gene_variant MELA-AU 5 43068364 43068364 single base substitution G A intron_variant MELA-AU 5 43069241 43069241 single base substitution C T intron_variant MELA-AU 5 43069860 43069860 single base substitution C T intron_variant MELA-AU 5 43070573 43070573 single base substitution T A intron_variant MELA-AU 5 43071160 43071160 single base substitution C T intron_variant MELA-AU 5 43072380 43072381 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 43073237 43073237 single base substitution C T intron_variant MELA-AU 5 43073408 43073408 single base substitution C T intron_variant MELA-AU 5 43073721 43073721 single base substitution G A intron_variant MELA-AU 5 43074453 43074453 single base substitution G A intron_variant MELA-AU 5 43074536 43074536 single base substitution G A intron_variant MELA-AU 5 43074558 43074558 single base substitution C T intron_variant MELA-AU 5 43074693 43074693 single base substitution A C intron_variant MELA-AU 5 43075167 43075167 single base substitution C T intron_variant MELA-AU 5 43075275 43075275 single base substitution C T intron_variant MELA-AU 5 43075530 43075530 single base substitution C T intron_variant MELA-AU 5 43075550 43075550 single base substitution C T intron_variant MELA-AU 5 43075699 43075699 single base substitution T A intron_variant MELA-AU 5 43076903 43076903 single base substitution C T intron_variant MELA-AU 5 43077287 43077287 single base substitution C T intron_variant MELA-AU 5 43077670 43077670 single base substitution C T intron_variant MELA-AU 5 43077722 43077722 single base substitution C T intron_variant MELA-AU 5 43078418 43078418 single base substitution G T intron_variant MELA-AU 5 43079528 43079528 single base substitution C T intron_variant MELA-AU 5 43079664 43079664 single base substitution C T intron_variant MELA-AU 5 43079696 43079696 single base substitution C T intron_variant MELA-AU 5 43080017 43080017 single base substitution C T exon_variant MELA-AU 5 43080017 43080017 single base substitution C T intron_variant MELA-AU 5 43080134 43080134 single base substitution G A exon_variant MELA-AU 5 43080134 43080134 single base substitution G A intron_variant MELA-AU 5 43080140 43080141 multiple base substitution (>=2bp and <=200bp) GT AA exon_variant MELA-AU 5 43080140 43080141 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 5 43081145 43081145 single base substitution C T downstream_gene_variant MELA-AU 5 43081145 43081145 single base substitution C T intron_variant MELA-AU 5 43081159 43081159 single base substitution T C downstream_gene_variant MELA-AU 5 43081159 43081159 single base substitution T C intron_variant MELA-AU 5 43081266 43081266 single base substitution G A downstream_gene_variant MELA-AU 5 43081266 43081266 single base substitution G A intron_variant MELA-AU 5 43081479 43081479 single base substitution G A downstream_gene_variant MELA-AU 5 43081479 43081479 single base substitution G A intron_variant MELA-AU 5 43081791 43081791 single base substitution C T downstream_gene_variant MELA-AU 5 43081791 43081791 single base substitution C T intron_variant MELA-AU 5 43081943 43081943 single base substitution C T downstream_gene_variant MELA-AU 5 43081943 43081943 single base substitution C T intron_variant MELA-AU 5 43082243 43082243 single base substitution C T downstream_gene_variant MELA-AU 5 43082243 43082243 single base substitution C T intron_variant MELA-AU 5 43082552 43082552 single base substitution A T downstream_gene_variant MELA-AU 5 43082552 43082552 single base substitution A T intron_variant MELA-AU 5 43082726 43082726 single base substitution C T downstream_gene_variant MELA-AU 5 43082726 43082726 single base substitution C T intron_variant MELA-AU 5 43083089 43083089 single base substitution G T downstream_gene_variant MELA-AU 5 43083089 43083089 single base substitution G T intron_variant MELA-AU 5 43083132 43083132 single base substitution G A downstream_gene_variant MELA-AU 5 43083132 43083132 single base substitution G A intron_variant MELA-AU 5 43083577 43083577 single base substitution C T downstream_gene_variant MELA-AU 5 43083577 43083577 single base substitution C T intron_variant MELA-AU 5 43083685 43083685 single base substitution G A downstream_gene_variant MELA-AU 5 43083685 43083685 single base substitution G A intron_variant MELA-AU 5 43084040 43084040 single base substitution C T downstream_gene_variant MELA-AU 5 43084040 43084040 single base substitution C T intron_variant MELA-AU 5 43084152 43084152 single base substitution T C downstream_gene_variant MELA-AU 5 43084152 43084152 single base substitution T C intron_variant MELA-AU 5 43084871 43084871 single base substitution C T downstream_gene_variant MELA-AU 5 43084871 43084871 single base substitution C T intron_variant MELA-AU 5 43085085 43085085 single base substitution C T downstream_gene_variant MELA-AU 5 43085085 43085085 single base substitution C T intron_variant MELA-AU 5 43085221 43085221 single base substitution T A downstream_gene_variant MELA-AU 5 43085221 43085221 single base substitution T A intron_variant MELA-AU 5 43085398 43085398 single base substitution C T downstream_gene_variant MELA-AU 5 43085398 43085398 single base substitution C T intron_variant MELA-AU 5 43085408 43085408 single base substitution T A downstream_gene_variant MELA-AU 5 43085408 43085408 single base substitution T A intron_variant MELA-AU 5 43086210 43086210 single base substitution C T intron_variant MELA-AU 5 43087432 43087432 single base substitution C T intron_variant MELA-AU 5 43087706 43087706 single base substitution C T intron_variant MELA-AU 5 43088417 43088417 single base substitution C T intron_variant MELA-AU 5 43089432 43089432 single base substitution G A intron_variant MELA-AU 5 43090856 43090856 single base substitution A T intron_variant MELA-AU 5 43092297 43092297 single base substitution C T intron_variant MELA-AU 5 43092510 43092510 single base substitution C T intron_variant MELA-AU 5 43092569 43092569 single base substitution C T intron_variant MELA-AU 5 43092852 43092852 single base substitution G A intron_variant MELA-AU 5 43093013 43093013 single base substitution C T intron_variant MELA-AU 5 43093129 43093129 single base substitution C T exon_variant MELA-AU 5 43093129 43093129 single base substitution C T intron_variant MELA-AU 5 43093302 43093302 single base substitution G A exon_variant MELA-AU 5 43093302 43093302 single base substitution G A intron_variant MELA-AU 5 43093446 43093446 single base substitution T G exon_variant MELA-AU 5 43093446 43093446 single base substitution T G intron_variant MELA-AU 5 43093693 43093693 single base substitution C T downstream_gene_variant MELA-AU 5 43093693 43093693 single base substitution C T intron_variant MELA-AU 5 43093724 43093724 single base substitution C T downstream_gene_variant MELA-AU 5 43093724 43093724 single base substitution C T intron_variant MELA-AU 5 43093740 43093740 single base substitution C T downstream_gene_variant MELA-AU 5 43093740 43093740 single base substitution C T intron_variant MELA-AU 5 43094242 43094242 single base substitution C T downstream_gene_variant MELA-AU 5 43094242 43094242 single base substitution C T intron_variant MELA-AU 5 43094262 43094262 single base substitution C T downstream_gene_variant MELA-AU 5 43094262 43094262 single base substitution C T intron_variant MELA-AU 5 43094357 43094357 single base substitution C T downstream_gene_variant MELA-AU 5 43094357 43094357 single base substitution C T intron_variant MELA-AU 5 43094470 43094470 single base substitution C T downstream_gene_variant MELA-AU 5 43094470 43094470 single base substitution C T intron_variant MELA-AU 5 43094511 43094511 single base substitution C T downstream_gene_variant MELA-AU 5 43094511 43094511 single base substitution C T intron_variant MELA-AU 5 43095810 43095810 single base substitution C T downstream_gene_variant MELA-AU 5 43095810 43095810 single base substitution C T intron_variant MELA-AU 5 43096947 43096947 single base substitution C A downstream_gene_variant MELA-AU 5 43096947 43096947 single base substitution C A intron_variant MELA-AU 5 43097447 43097447 single base substitution C T downstream_gene_variant MELA-AU 5 43097447 43097447 single base substitution C T intron_variant MELA-AU 5 43097655 43097655 single base substitution C T downstream_gene_variant MELA-AU 5 43097655 43097655 single base substitution C T intron_variant MELA-AU 5 43098004 43098004 single base substitution C T downstream_gene_variant MELA-AU 5 43098004 43098004 single base substitution C T intron_variant MELA-AU 5 43098142 43098142 single base substitution T C downstream_gene_variant MELA-AU 5 43098142 43098142 single base substitution T C intron_variant MELA-AU 5 43098278 43098278 single base substitution T A downstream_gene_variant MELA-AU 5 43098278 43098278 single base substitution T A intron_variant MELA-AU 5 43098498 43098498 single base substitution A G downstream_gene_variant MELA-AU 5 43098498 43098498 single base substitution A G intron_variant MELA-AU 5 43098979 43098979 single base substitution C T intron_variant MELA-AU 5 43099051 43099051 single base substitution C T intron_variant MELA-AU 5 43099111 43099111 single base substitution C T intron_variant MELA-AU 5 43099337 43099337 single base substitution C T exon_variant MELA-AU 5 43099337 43099337 single base substitution C T intron_variant MELA-AU 5 43100774 43100774 single base substitution G A downstream_gene_variant MELA-AU 5 43100774 43100774 single base substitution G A intron_variant MELA-AU 5 43100871 43100871 single base substitution C T downstream_gene_variant MELA-AU 5 43100871 43100871 single base substitution C T intron_variant MELA-AU 5 43101106 43101106 single base substitution G A downstream_gene_variant MELA-AU 5 43101106 43101106 single base substitution G A intron_variant MELA-AU 5 43101447 43101447 single base substitution T A downstream_gene_variant MELA-AU 5 43101447 43101447 single base substitution T A intron_variant MELA-AU 5 43102325 43102325 single base substitution G A downstream_gene_variant MELA-AU 5 43102325 43102325 single base substitution G A intron_variant MELA-AU 5 43102332 43102332 single base substitution C T downstream_gene_variant MELA-AU 5 43102332 43102332 single base substitution C T intron_variant MELA-AU 5 43102420 43102420 single base substitution C T downstream_gene_variant MELA-AU 5 43102420 43102420 single base substitution C T intron_variant MELA-AU 5 43102672 43102672 single base substitution C T downstream_gene_variant MELA-AU 5 43102672 43102672 single base substitution C T intron_variant MELA-AU 5 43103142 43103142 single base substitution T C downstream_gene_variant MELA-AU 5 43103142 43103142 single base substitution T C intron_variant MELA-AU 5 43103265 43103265 single base substitution C T downstream_gene_variant MELA-AU 5 43103265 43103265 single base substitution C T intron_variant MELA-AU 5 43103469 43103469 single base substitution C T downstream_gene_variant MELA-AU 5 43103469 43103469 single base substitution C T intron_variant MELA-AU 5 43103470 43103470 single base substitution C T downstream_gene_variant MELA-AU 5 43103470 43103470 single base substitution C T intron_variant MELA-AU 5 43103536 43103536 single base substitution C T downstream_gene_variant MELA-AU 5 43103536 43103536 single base substitution C T intron_variant MELA-AU 5 43103652 43103652 single base substitution G A downstream_gene_variant MELA-AU 5 43103652 43103652 single base substitution G A intron_variant MELA-AU 5 43103992 43103992 single base substitution A C downstream_gene_variant MELA-AU 5 43103992 43103992 single base substitution A C intron_variant MELA-AU 5 43105362 43105362 single base substitution C T intron_variant MELA-AU 5 43105726 43105726 single base substitution G A intron_variant MELA-AU 5 43106339 43106339 single base substitution A C intron_variant MELA-AU 5 43107110 43107110 single base substitution T C intron_variant MELA-AU 5 43107218 43107218 single base substitution C T intron_variant MELA-AU 5 43107987 43107987 single base substitution C T intron_variant MELA-AU 5 43108375 43108375 single base substitution C T intron_variant MELA-AU 5 43109438 43109438 single base substitution C T intron_variant MELA-AU 5 43109524 43109524 single base substitution C T intron_variant MELA-AU 5 43110352 43110352 single base substitution C T intron_variant MELA-AU 5 43110515 43110515 single base substitution A T intron_variant MELA-AU 5 43110913 43110913 single base substitution C T intron_variant MELA-AU 5 43111423 43111423 single base substitution C T intron_variant MELA-AU 5 43112431 43112431 single base substitution G A intron_variant MELA-AU 5 43112482 43112482 single base substitution C T intron_variant MELA-AU 5 43112496 43112496 single base substitution C T intron_variant MELA-AU 5 43112646 43112646 single base substitution T C intron_variant MELA-AU 5 43112734 43112734 single base substitution C T intron_variant MELA-AU 5 43112945 43112945 single base substitution G A intron_variant MELA-AU 5 43113624 43113624 single base substitution G A intron_variant MELA-AU 5 43113657 43113657 single base substitution G A intron_variant MELA-AU 5 43114349 43114349 single base substitution G T intron_variant MELA-AU 5 43114498 43114498 single base substitution G A intron_variant MELA-AU 5 43114780 43114780 single base substitution G A intron_variant MELA-AU 5 43114874 43114874 single base substitution C T intron_variant MELA-AU 5 43115285 43115285 single base substitution A C intron_variant MELA-AU 5 43115301 43115301 single base substitution T C intron_variant MELA-AU 5 43115744 43115744 single base substitution A G intron_variant MELA-AU 5 43116627 43116627 single base substitution G A 5_prime_UTR_variant MELA-AU 5 43116627 43116627 single base substitution G A upstream_gene_variant MELA-AU 5 43118015 43118015 single base substitution G A intron_variant MELA-AU 5 43118015 43118015 single base substitution G A upstream_gene_variant MELA-AU 5 43118225 43118225 single base substitution G A intron_variant MELA-AU 5 43118225 43118225 single base substitution G A upstream_gene_variant MELA-AU 5 43118386 43118386 single base substitution T A intron_variant MELA-AU 5 43118386 43118386 single base substitution T A upstream_gene_variant MELA-AU 5 43118567 43118567 single base substitution G A intron_variant MELA-AU 5 43118567 43118567 single base substitution G A upstream_gene_variant MELA-AU 5 43118685 43118685 single base substitution C T intron_variant MELA-AU 5 43118685 43118685 single base substitution C T upstream_gene_variant MELA-AU 5 43119855 43119855 single base substitution G T intron_variant MELA-AU 5 43119855 43119855 single base substitution G T upstream_gene_variant MELA-AU 5 43120090 43120090 single base substitution G A synonymous_variant S22S 66G>A MELA-AU 5 43120090 43120090 single base substitution G A upstream_gene_variant MELA-AU 5 43120734 43120734 single base substitution C T intron_variant MELA-AU 5 43120734 43120734 single base substitution C T upstream_gene_variant MELA-AU 5 43120948 43120948 single base substitution G T intron_variant MELA-AU 5 43120948 43120948 single base substitution G T upstream_gene_variant MELA-AU 5 43121505 43121505 single base substitution C T intron_variant MELA-AU 5 43121505 43121505 single base substitution C T upstream_gene_variant MELA-AU 5 43121581 43121581 single base substitution G A intron_variant MELA-AU 5 43121581 43121581 single base substitution G A upstream_gene_variant MELA-AU 5 43121585 43121585 single base substitution G A intron_variant MELA-AU 5 43121585 43121585 single base substitution G A upstream_gene_variant MELA-AU 5 43121717 43121717 single base substitution G A 5_prime_UTR_variant MELA-AU 5 43121717 43121717 single base substitution G A intron_variant MELA-AU 5 43121717 43121717 single base substitution G A upstream_gene_variant MELA-AU 5 43122792 43122792 insertion of <=200bp - GTG downstream_gene_variant MELA-AU 5 43122792 43122792 insertion of <=200bp - GTG intron_variant MELA-AU 5 43122976 43122976 single base substitution T C downstream_gene_variant MELA-AU 5 43122976 43122976 single base substitution T C intron_variant MELA-AU 5 43123268 43123268 single base substitution C T downstream_gene_variant MELA-AU 5 43123268 43123268 single base substitution C T intron_variant MELA-AU 5 43123423 43123423 single base substitution C T downstream_gene_variant MELA-AU 5 43123423 43123423 single base substitution C T exon_variant MELA-AU 5 43123423 43123423 single base substitution C T intron_variant MELA-AU 5 43125334 43125334 single base substitution G A downstream_gene_variant MELA-AU 5 43125334 43125334 single base substitution G A intron_variant MELA-AU 5 43125435 43125435 single base substitution T A downstream_gene_variant MELA-AU 5 43125435 43125435 single base substitution T A intron_variant MELA-AU 5 43125601 43125601 single base substitution G A downstream_gene_variant MELA-AU 5 43125601 43125601 single base substitution G A intron_variant MELA-AU 5 43125876 43125876 single base substitution C T downstream_gene_variant MELA-AU 5 43125876 43125876 single base substitution C T intron_variant MELA-AU 5 43125948 43125948 single base substitution T C downstream_gene_variant MELA-AU 5 43125948 43125948 single base substitution T C intron_variant MELA-AU 5 43126665 43126665 single base substitution C T downstream_gene_variant MELA-AU 5 43126665 43126665 single base substitution C T intron_variant MELA-AU 5 43127263 43127263 single base substitution C T downstream_gene_variant MELA-AU 5 43127263 43127263 single base substitution C T intron_variant MELA-AU 5 43129545 43129545 single base substitution C T downstream_gene_variant MELA-AU 5 43129545 43129545 single base substitution C T intron_variant MELA-AU 5 43129847 43129847 single base substitution C T downstream_gene_variant MELA-AU 5 43129847 43129847 single base substitution C T intron_variant MELA-AU 5 43129890 43129890 single base substitution G A downstream_gene_variant MELA-AU 5 43129890 43129890 single base substitution G A intron_variant MELA-AU 5 43130751 43130751 single base substitution C T intron_variant MELA-AU 5 43131516 43131516 single base substitution C T intron_variant MELA-AU 5 43131693 43131693 single base substitution A T intron_variant MELA-AU 5 43133906 43133906 single base substitution G A intron_variant MELA-AU 5 43135354 43135354 single base substitution C T intron_variant MELA-AU 5 43135885 43135885 single base substitution T C intron_variant MELA-AU 5 43136497 43136497 single base substitution T C intron_variant MELA-AU 5 43136954 43136954 single base substitution G A intron_variant MELA-AU 5 43137211 43137211 single base substitution C T intron_variant MELA-AU 5 43137728 43137728 single base substitution C T intron_variant MELA-AU 5 43138437 43138437 single base substitution A G intron_variant MELA-AU 5 43138525 43138525 single base substitution C T intron_variant MELA-AU 5 43138583 43138583 single base substitution C T intron_variant MELA-AU 5 43139401 43139401 single base substitution C T exon_variant MELA-AU 5 43139401 43139401 single base substitution C T intron_variant MELA-AU 5 43139401 43139401 single base substitution C T missense_variant L121F 361C>T MELA-AU 5 43139987 43139987 single base substitution C T intron_variant MELA-AU 5 43141196 43141196 single base substitution C T intron_variant MELA-AU 5 43141892 43141892 single base substitution C T intron_variant MELA-AU 5 43142132 43142132 single base substitution C T intron_variant MELA-AU 5 43142473 43142473 single base substitution C T intron_variant MELA-AU 5 43143673 43143673 single base substitution C T intron_variant MELA-AU 5 43144048 43144048 single base substitution G A intron_variant MELA-AU 5 43145333 43145333 single base substitution C T intron_variant MELA-AU 5 43145638 43145638 single base substitution C T intron_variant MELA-AU 5 43145828 43145828 single base substitution C T intron_variant MELA-AU 5 43146484 43146484 single base substitution C T intron_variant MELA-AU 5 43147550 43147550 single base substitution C T intron_variant MELA-AU 5 43147612 43147612 single base substitution C T intron_variant MELA-AU 5 43148799 43148799 single base substitution C T intron_variant MELA-AU 5 43149098 43149098 single base substitution C T intron_variant MELA-AU 5 43149129 43149129 single base substitution C T intron_variant MELA-AU 5 43149397 43149397 single base substitution C T intron_variant MELA-AU 5 43149635 43149635 single base substitution C T intron_variant MELA-AU 5 43149841 43149841 single base substitution G A intron_variant MELA-AU 5 43150427 43150427 single base substitution C T intron_variant MELA-AU 5 43150428 43150428 single base substitution C T intron_variant MELA-AU 5 43150905 43150905 single base substitution C T intron_variant MELA-AU 5 43151460 43151460 single base substitution C T intron_variant MELA-AU 5 43151843 43151843 single base substitution C T intron_variant MELA-AU 5 43152819 43152819 single base substitution C T intron_variant MELA-AU 5 43153055 43153055 single base substitution C T intron_variant MELA-AU 5 43153101 43153101 single base substitution C T intron_variant MELA-AU 5 43153515 43153515 single base substitution T G intron_variant MELA-AU 5 43153534 43153534 single base substitution C T intron_variant MELA-AU 5 43153818 43153818 single base substitution C T intron_variant MELA-AU 5 43153820 43153820 single base substitution C T intron_variant MELA-AU 5 43154261 43154262 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 43155712 43155712 single base substitution C T intron_variant MELA-AU 5 43156241 43156241 single base substitution G A intron_variant MELA-AU 5 43156295 43156295 single base substitution C T intron_variant MELA-AU 5 43156346 43156346 single base substitution C T intron_variant MELA-AU 5 43156634 43156634 single base substitution G A intron_variant MELA-AU 5 43157036 43157036 single base substitution C T intron_variant MELA-AU 5 43157036 43157036 single base substitution C T upstream_gene_variant MELA-AU 5 43158347 43158348 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 43158347 43158348 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 43158649 43158649 single base substitution C T intron_variant MELA-AU 5 43158649 43158649 single base substitution C T upstream_gene_variant MELA-AU 5 43160641 43160641 single base substitution G A intron_variant MELA-AU 5 43160641 43160641 single base substitution G A upstream_gene_variant MELA-AU 5 43160733 43160733 single base substitution C T intron_variant MELA-AU 5 43160733 43160733 single base substitution C T upstream_gene_variant MELA-AU 5 43160871 43160871 single base substitution C T intron_variant MELA-AU 5 43160871 43160871 single base substitution C T upstream_gene_variant MELA-AU 5 43160979 43160979 single base substitution C T intron_variant MELA-AU 5 43160979 43160979 single base substitution C T upstream_gene_variant MELA-AU 5 43161096 43161096 single base substitution C T intron_variant MELA-AU 5 43161096 43161096 single base substitution C T upstream_gene_variant MELA-AU 5 43161351 43161351 single base substitution G A intron_variant MELA-AU 5 43161351 43161351 single base substitution G A splice_region_variant MELA-AU 5 43161351 43161351 single base substitution G A upstream_gene_variant MELA-AU 5 43161445 43161445 single base substitution G A 3_prime_UTR_variant MELA-AU 5 43161445 43161445 single base substitution G A downstream_gene_variant MELA-AU 5 43161445 43161445 single base substitution G A exon_variant MELA-AU 5 43161445 43161445 single base substitution G A intron_variant MELA-AU 5 43161445 43161445 single base substitution G A missense_variant E156K 466G>A MELA-AU 5 43161445 43161445 single base substitution G A upstream_gene_variant MELA-AU 5 43161823 43161823 single base substitution T G 3_prime_UTR_variant MELA-AU 5 43161823 43161823 single base substitution T G downstream_gene_variant MELA-AU 5 43161823 43161823 single base substitution T G exon_variant MELA-AU 5 43161823 43161823 single base substitution T G intron_variant MELA-AU 5 43161823 43161823 single base substitution T G missense_variant S248A 742T>G MELA-AU 5 43161823 43161823 single base substitution T G missense_variant S282A 844T>G MELA-AU 5 43161823 43161823 single base substitution T G upstream_gene_variant MELA-AU 5 43161824 43161824 single base substitution C T 3_prime_UTR_variant MELA-AU 5 43161824 43161824 single base substitution C T downstream_gene_variant MELA-AU 5 43161824 43161824 single base substitution C T exon_variant MELA-AU 5 43161824 43161824 single base substitution C T intron_variant MELA-AU 5 43161824 43161824 single base substitution C T missense_variant S248L 743C>T MELA-AU 5 43161824 43161824 single base substitution C T missense_variant S282L 845C>T MELA-AU 5 43161824 43161824 single base substitution C T upstream_gene_variant MELA-AU 5 43162101 43162101 single base substitution C T downstream_gene_variant MELA-AU 5 43162101 43162101 single base substitution C T intron_variant MELA-AU 5 43162307 43162307 single base substitution C T downstream_gene_variant MELA-AU 5 43162307 43162307 single base substitution C T intron_variant MELA-AU 5 43163641 43163641 single base substitution C T downstream_gene_variant MELA-AU 5 43163641 43163641 single base substitution C T intron_variant MELA-AU 5 43163751 43163751 single base substitution C T downstream_gene_variant MELA-AU 5 43163751 43163751 single base substitution C T intron_variant MELA-AU 5 43163790 43163790 single base substitution A T downstream_gene_variant MELA-AU 5 43163790 43163790 single base substitution A T intron_variant MELA-AU 5 43164980 43164980 single base substitution C T downstream_gene_variant MELA-AU 5 43164980 43164980 single base substitution C T intron_variant MELA-AU 5 43165550 43165550 single base substitution T C downstream_gene_variant MELA-AU 5 43165550 43165550 single base substitution T C intron_variant MELA-AU 5 43165853 43165853 single base substitution C T downstream_gene_variant MELA-AU 5 43165853 43165853 single base substitution C T intron_variant MELA-AU 5 43166525 43166525 single base substitution C A downstream_gene_variant MELA-AU 5 43166525 43166525 single base substitution C A intron_variant MELA-AU 5 43166845 43166845 single base substitution C T downstream_gene_variant MELA-AU 5 43166845 43166845 single base substitution C T intron_variant MELA-AU 5 43167300 43167300 single base substitution C T intron_variant MELA-AU 5 43167544 43167544 single base substitution C T intron_variant MELA-AU 5 43168171 43168171 single base substitution C G intron_variant MELA-AU 5 43168688 43168688 single base substitution C T intron_variant MELA-AU 5 43168688 43168688 single base substitution C T upstream_gene_variant MELA-AU 5 43169612 43169612 single base substitution A C intron_variant MELA-AU 5 43169612 43169612 single base substitution A C upstream_gene_variant MELA-AU 5 43170267 43170267 single base substitution C T intron_variant MELA-AU 5 43170267 43170267 single base substitution C T upstream_gene_variant MELA-AU 5 43171327 43171327 single base substitution G A intron_variant MELA-AU 5 43171327 43171327 single base substitution G A upstream_gene_variant MELA-AU 5 43171386 43171386 single base substitution C T intron_variant MELA-AU 5 43171386 43171386 single base substitution C T upstream_gene_variant MELA-AU 5 43171753 43171753 deletion of <=200bp C - intron_variant MELA-AU 5 43171753 43171753 deletion of <=200bp C - upstream_gene_variant MELA-AU 5 43171755 43171755 single base substitution C T intron_variant MELA-AU 5 43171755 43171755 single base substitution C T upstream_gene_variant MELA-AU 5 43172526 43172526 single base substitution C T intron_variant MELA-AU 5 43172526 43172526 single base substitution C T upstream_gene_variant MELA-AU 5 43172607 43172607 single base substitution C T intron_variant MELA-AU 5 43172607 43172607 single base substitution C T upstream_gene_variant MELA-AU 5 43172879 43172879 single base substitution C T intron_variant MELA-AU 5 43172879 43172879 single base substitution C T upstream_gene_variant MELA-AU 5 43173654 43173654 single base substitution C T intron_variant MELA-AU 5 43174498 43174498 single base substitution C T intron_variant MELA-AU 5 43174579 43174579 single base substitution C T 3_prime_UTR_variant MELA-AU 5 43174579 43174579 single base substitution C T exon_variant MELA-AU 5 43174579 43174579 single base substitution C T intron_variant MELA-AU 5 43174579 43174579 single base substitution C T stop_gained Q372* 1114C>T MELA-AU 5 43174579 43174579 single base substitution C T stop_gained Q406* 1216C>T MELA-AU 5 43174924 43174924 single base substitution C T 3_prime_UTR_variant MELA-AU 5 43174924 43174924 single base substitution C T downstream_gene_variant MELA-AU 5 43174924 43174924 single base substitution C T intron_variant MELA-AU 5 43174924 43174924 single base substitution C T stop_gained Q487* 1459C>T MELA-AU 5 43174924 43174924 single base substitution C T stop_gained Q521* 1561C>T MELA-AU 5 43175255 43175255 single base substitution T C 3_prime_UTR_variant MELA-AU 5 43175255 43175255 single base substitution T C downstream_gene_variant MELA-AU 5 43175255 43175255 single base substitution T C intron_variant MELA-AU 5 43175295 43175295 single base substitution G A 3_prime_UTR_variant MELA-AU 5 43175295 43175295 single base substitution G A downstream_gene_variant MELA-AU 5 43175295 43175295 single base substitution G A intron_variant MELA-AU 5 43175633 43175633 single base substitution A T 3_prime_UTR_variant MELA-AU 5 43175633 43175633 single base substitution A T downstream_gene_variant MELA-AU 5 43175633 43175633 single base substitution A T intron_variant MELA-AU 5 43176055 43176055 single base substitution T A 3_prime_UTR_variant MELA-AU 5 43176055 43176055 single base substitution T A downstream_gene_variant MELA-AU 5 43176055 43176055 single base substitution T A intron_variant MELA-AU 5 43176255 43176255 single base substitution C T 3_prime_UTR_variant MELA-AU 5 43176255 43176255 single base substitution C T downstream_gene_variant MELA-AU 5 43176255 43176255 single base substitution C T intron_variant MELA-AU 5 43177112 43177112 single base substitution C T downstream_gene_variant MELA-AU 5 43177112 43177112 single base substitution C T intron_variant MELA-AU 5 43178611 43178611 single base substitution C T downstream_gene_variant MELA-AU 5 43178611 43178611 single base substitution C T intron_variant MELA-AU 5 43179070 43179070 single base substitution T C downstream_gene_variant MELA-AU 5 43179070 43179070 single base substitution T C intron_variant MELA-AU 5 43179463 43179463 single base substitution C T downstream_gene_variant MELA-AU 5 43179463 43179463 single base substitution C T intron_variant MELA-AU 5 43180328 43180328 single base substitution C T downstream_gene_variant MELA-AU 5 43180328 43180328 single base substitution C T intron_variant MELA-AU 5 43180769 43180769 single base substitution C T downstream_gene_variant MELA-AU 5 43180769 43180769 single base substitution C T intron_variant MELA-AU 5 43180770 43180770 single base substitution C T downstream_gene_variant MELA-AU 5 43180770 43180770 single base substitution C T intron_variant MELA-AU 5 43182254 43182254 single base substitution C T intron_variant MELA-AU 5 43182471 43182471 single base substitution T C intron_variant MELA-AU 5 43184467 43184467 single base substitution T C intron_variant MELA-AU 5 43184532 43184532 single base substitution C T intron_variant MELA-AU 5 43185502 43185502 single base substitution C T intron_variant MELA-AU 5 43185740 43185740 single base substitution C T intron_variant MELA-AU 5 43186846 43186846 single base substitution C T intron_variant MELA-AU 5 43187196 43187196 single base substitution C T intron_variant MELA-AU 5 43187459 43187459 single base substitution C T intron_variant MELA-AU 5 43187647 43187647 single base substitution C T intron_variant MELA-AU 5 43188362 43188362 single base substitution A C intron_variant MELA-AU 5 43188470 43188471 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 43188508 43188508 single base substitution C T intron_variant MELA-AU 5 43189179 43189180 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 43189230 43189230 single base substitution C T intron_variant MELA-AU 5 43189423 43189423 single base substitution C T intron_variant MELA-AU 5 43189462 43189462 single base substitution C T intron_variant MELA-AU 5 43189606 43189606 single base substitution G A intron_variant MELA-AU 5 43189626 43189626 single base substitution C T intron_variant MELA-AU 5 43189661 43189661 single base substitution A T intron_variant MELA-AU 5 43189734 43189734 single base substitution G A intron_variant MELA-AU 5 43189968 43189968 single base substitution G A intron_variant MELA-AU 5 43190362 43190362 single base substitution A T intron_variant MELA-AU 5 43191132 43191132 single base substitution C T intron_variant MELA-AU 5 43191360 43191360 single base substitution C T intron_variant MELA-AU 5 43191561 43191561 single base substitution C T intron_variant MELA-AU 5 43191687 43191687 single base substitution C T intron_variant MELA-AU 5 43191947 43191947 single base substitution C T 3_prime_UTR_variant MELA-AU 5 43192124 43192124 single base substitution C T downstream_gene_variant MELA-AU 5 43192138 43192138 single base substitution C T downstream_gene_variant MELA-AU 5 43192144 43192144 single base substitution C T downstream_gene_variant MELA-AU 5 43192227 43192227 single base substitution C T downstream_gene_variant MELA-AU 5 43193095 43193095 single base substitution C T downstream_gene_variant MELA-AU 5 43193692 43193692 single base substitution A T downstream_gene_variant MELA-AU 5 43194785 43194785 single base substitution C T downstream_gene_variant MELA-AU 5 43195366 43195366 single base substitution A G downstream_gene_variant MELA-AU 5 43195426 43195426 single base substitution G A downstream_gene_variant MELA-AU 5 43195601 43195601 single base substitution A G downstream_gene_variant MELA-AU 5 43195638 43195638 single base substitution T G downstream_gene_variant MELA-AU 5 43195946 43195946 single base substitution C T downstream_gene_variant MELA-AU 5 43196094 43196094 single base substitution C T downstream_gene_variant MELA-AU 5 43196264 43196264 single base substitution C T downstream_gene_variant MELA-AU 5 43196688 43196688 single base substitution G A downstream_gene_variant MELA-AU 5 43196819 43196819 single base substitution C T downstream_gene_variant MELA-AU 5 43196835 43196835 single base substitution C T downstream_gene_variant MELA-AU 5 43196965 43196965 single base substitution C T downstream_gene_variant ORCA-IN 5 43077736 43077736 single base substitution C T intron_variant ORCA-IN 5 43082089 43082089 single base substitution G C downstream_gene_variant ORCA-IN 5 43082089 43082089 single base substitution G C intron_variant ORCA-IN 5 43125516 43125516 single base substitution C T downstream_gene_variant ORCA-IN 5 43125516 43125516 single base substitution C T intron_variant ORCA-IN 5 43128038 43128038 single base substitution G T downstream_gene_variant ORCA-IN 5 43128038 43128038 single base substitution G T intron_variant ORCA-IN 5 43154273 43154273 single base substitution G A intron_variant ORCA-IN 5 43174700 43174700 single base substitution C A 3_prime_UTR_variant ORCA-IN 5 43174700 43174700 single base substitution C A exon_variant ORCA-IN 5 43174700 43174700 single base substitution C A intron_variant ORCA-IN 5 43174700 43174700 single base substitution C A stop_gained S412* 1235C>A ORCA-IN 5 43174700 43174700 single base substitution C A stop_gained S446* 1337C>A ORCA-IN 5 43174999 43174999 single base substitution G T 3_prime_UTR_variant ORCA-IN 5 43174999 43174999 single base substitution G T downstream_gene_variant ORCA-IN 5 43174999 43174999 single base substitution G T intron_variant ORCA-IN 5 43174999 43174999 single base substitution G T stop_gained E512* 1534G>T ORCA-IN 5 43174999 43174999 single base substitution G T stop_gained E546* 1636G>T ORCA-IN 5 43191584 43191584 insertion of <=200bp - C intron_variant OV-AU 5 43063578 43063578 single base substitution T G upstream_gene_variant OV-AU 5 43072916 43072916 single base substitution G C intron_variant OV-AU 5 43073808 43073808 single base substitution C T intron_variant OV-AU 5 43076989 43076989 single base substitution A G intron_variant OV-AU 5 43088398 43088398 single base substitution G A intron_variant OV-AU 5 43093468 43093468 single base substitution A C exon_variant OV-AU 5 43093468 43093468 single base substitution A C intron_variant OV-AU 5 43094170 43094170 single base substitution C A downstream_gene_variant OV-AU 5 43094170 43094170 single base substitution C A intron_variant OV-AU 5 43096294 43096294 single base substitution G A downstream_gene_variant OV-AU 5 43096294 43096294 single base substitution G A intron_variant OV-AU 5 43106567 43106567 single base substitution G C intron_variant OV-AU 5 43108842 43108842 single base substitution C G intron_variant OV-AU 5 43111074 43111074 single base substitution G A intron_variant OV-AU 5 43113907 43113907 single base substitution G A intron_variant OV-AU 5 43116598 43116598 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant OV-AU 5 43116598 43116598 single base substitution C A upstream_gene_variant OV-AU 5 43121916 43121916 single base substitution C T 5_prime_UTR_variant OV-AU 5 43121916 43121916 single base substitution C T intron_variant OV-AU 5 43121916 43121916 single base substitution C T upstream_gene_variant OV-AU 5 43123891 43123891 single base substitution G T downstream_gene_variant OV-AU 5 43123891 43123891 single base substitution G T exon_variant OV-AU 5 43123891 43123891 single base substitution G T intron_variant OV-AU 5 43124768 43124768 single base substitution G A downstream_gene_variant OV-AU 5 43124768 43124768 single base substitution G A exon_variant OV-AU 5 43124768 43124768 single base substitution G A intron_variant OV-AU 5 43131153 43131153 single base substitution G C intron_variant OV-AU 5 43137177 43137177 single base substitution G C intron_variant OV-AU 5 43137278 43137278 single base substitution A C intron_variant OV-AU 5 43144606 43144606 single base substitution A T intron_variant OV-AU 5 43150663 43150663 single base substitution G A intron_variant OV-AU 5 43153251 43153251 single base substitution G T intron_variant OV-AU 5 43162913 43162913 single base substitution C T downstream_gene_variant OV-AU 5 43162913 43162913 single base substitution C T intron_variant OV-AU 5 43165045 43165045 single base substitution T C downstream_gene_variant OV-AU 5 43165045 43165045 single base substitution T C intron_variant OV-AU 5 43165964 43165964 single base substitution A G downstream_gene_variant OV-AU 5 43165964 43165964 single base substitution A G intron_variant OV-AU 5 43166952 43166952 single base substitution G A intron_variant OV-AU 5 43180199 43180199 single base substitution T C downstream_gene_variant OV-AU 5 43180199 43180199 single base substitution T C intron_variant OV-AU 5 43183268 43183268 single base substitution G A intron_variant OV-AU 5 43184846 43184846 single base substitution C G intron_variant OV-AU 5 43194958 43194958 single base substitution C A downstream_gene_variant PACA-AU 5 43063732 43063732 single base substitution A T upstream_gene_variant PACA-AU 5 43065164 43065164 single base substitution C T upstream_gene_variant PACA-AU 5 43072274 43072274 single base substitution T C intron_variant PACA-AU 5 43077916 43077916 single base substitution G C intron_variant PACA-AU 5 43082736 43082739 deletion of <=200bp AAAG - downstream_gene_variant PACA-AU 5 43082736 43082739 deletion of <=200bp AAAG - intron_variant PACA-AU 5 43084787 43084787 single base substitution T G downstream_gene_variant PACA-AU 5 43084787 43084787 single base substitution T G intron_variant PACA-AU 5 43084850 43084850 single base substitution G A downstream_gene_variant PACA-AU 5 43084850 43084850 single base substitution G A intron_variant PACA-AU 5 43086348 43086349 deletion of <=200bp CT - intron_variant PACA-AU 5 43086637 43086637 single base substitution T G intron_variant PACA-AU 5 43092332 43092332 single base substitution A G intron_variant PACA-AU 5 43103941 43103941 single base substitution C G downstream_gene_variant PACA-AU 5 43103941 43103941 single base substitution C G intron_variant PACA-AU 5 43104874 43104874 single base substitution A C intron_variant PACA-AU 5 43109146 43109146 single base substitution A T intron_variant PACA-AU 5 43109315 43109315 single base substitution G A intron_variant PACA-AU 5 43112928 43112928 single base substitution T G intron_variant PACA-AU 5 43113674 43113674 single base substitution C T intron_variant PACA-AU 5 43115664 43115664 single base substitution C T intron_variant PACA-AU 5 43116622 43116622 single base substitution G A 5_prime_UTR_variant PACA-AU 5 43116622 43116622 single base substitution G A upstream_gene_variant PACA-AU 5 43125042 43125042 single base substitution G T downstream_gene_variant PACA-AU 5 43125042 43125042 single base substitution G T exon_variant PACA-AU 5 43125042 43125042 single base substitution G T intron_variant PACA-AU 5 43126066 43126066 single base substitution G A downstream_gene_variant PACA-AU 5 43126066 43126066 single base substitution G A intron_variant PACA-AU 5 43129757 43129757 single base substitution T G downstream_gene_variant PACA-AU 5 43129757 43129757 single base substitution T G intron_variant PACA-AU 5 43133148 43133148 single base substitution G A intron_variant PACA-AU 5 43134801 43134801 single base substitution T C intron_variant PACA-AU 5 43135501 43135501 single base substitution G A intron_variant PACA-AU 5 43137095 43137095 single base substitution A G intron_variant PACA-AU 5 43143528 43143528 single base substitution T C intron_variant PACA-AU 5 43147178 43147178 single base substitution C T intron_variant PACA-AU 5 43153315 43153315 single base substitution G A intron_variant PACA-AU 5 43155662 43155687 deletion of <=200bp TGCACTGCAGTTCGATTGTTAACTTC - intron_variant PACA-AU 5 43157165 43157165 single base substitution C T intron_variant PACA-AU 5 43157165 43157165 single base substitution C T upstream_gene_variant PACA-AU 5 43164058 43164058 single base substitution C G downstream_gene_variant PACA-AU 5 43164058 43164058 single base substitution C G intron_variant PACA-AU 5 43174639 43174639 single base substitution G C 3_prime_UTR_variant PACA-AU 5 43174639 43174639 single base substitution G C exon_variant PACA-AU 5 43174639 43174639 single base substitution G C intron_variant PACA-AU 5 43174639 43174639 single base substitution G C missense_variant D392H 1174G>C PACA-AU 5 43174639 43174639 single base substitution G C missense_variant D426H 1276G>C PACA-AU 5 43185571 43185571 single base substitution G A intron_variant PACA-AU 5 43191431 43191431 single base substitution A G intron_variant PACA-AU 5 43195391 43195391 single base substitution A G downstream_gene_variant PACA-AU 5 43196507 43196507 single base substitution G A downstream_gene_variant PACA-CA 5 43065083 43065083 single base substitution G A upstream_gene_variant PACA-CA 5 43066477 43066477 single base substitution C T intron_variant PACA-CA 5 43066477 43066477 single base substitution C T upstream_gene_variant PACA-CA 5 43069462 43069462 single base substitution C A intron_variant PACA-CA 5 43074216 43074216 single base substitution G C intron_variant PACA-CA 5 43075606 43075606 single base substitution G A intron_variant PACA-CA 5 43076958 43076958 single base substitution A G intron_variant PACA-CA 5 43077582 43077582 single base substitution C T intron_variant PACA-CA 5 43082187 43082187 single base substitution C T downstream_gene_variant PACA-CA 5 43082187 43082187 single base substitution C T intron_variant PACA-CA 5 43085640 43085640 single base substitution G A intron_variant PACA-CA 5 43090753 43090753 single base substitution C T intron_variant PACA-CA 5 43092906 43092906 single base substitution C T intron_variant PACA-CA 5 43101952 43101952 single base substitution G A downstream_gene_variant PACA-CA 5 43101952 43101952 single base substitution G A intron_variant PACA-CA 5 43103699 43103699 single base substitution G A downstream_gene_variant PACA-CA 5 43103699 43103699 single base substitution G A intron_variant PACA-CA 5 43106773 43106773 single base substitution A G intron_variant PACA-CA 5 43110195 43110195 single base substitution G A intron_variant PACA-CA 5 43112398 43112398 single base substitution C T intron_variant PACA-CA 5 43112538 43112538 single base substitution G A intron_variant PACA-CA 5 43112702 43112702 single base substitution C T intron_variant PACA-CA 5 43112934 43112934 single base substitution G A intron_variant PACA-CA 5 43113131 43113131 single base substitution G A intron_variant PACA-CA 5 43118246 43118246 single base substitution C T intron_variant PACA-CA 5 43118246 43118246 single base substitution C T upstream_gene_variant PACA-CA 5 43121611 43121611 single base substitution C A 5_prime_UTR_variant PACA-CA 5 43121611 43121611 single base substitution C A intron_variant PACA-CA 5 43121611 43121611 single base substitution C A upstream_gene_variant PACA-CA 5 43122218 43122218 single base substitution C T exon_variant PACA-CA 5 43122218 43122218 single base substitution C T synonymous_variant L21L 63C>T PACA-CA 5 43122218 43122218 single base substitution C T synonymous_variant L69L 207C>T PACA-CA 5 43122718 43122718 single base substitution T A downstream_gene_variant PACA-CA 5 43122718 43122718 single base substitution T A intron_variant PACA-CA 5 43124063 43124063 single base substitution C T downstream_gene_variant PACA-CA 5 43124063 43124063 single base substitution C T exon_variant PACA-CA 5 43124063 43124063 single base substitution C T intron_variant PACA-CA 5 43124751 43124751 single base substitution A G downstream_gene_variant PACA-CA 5 43124751 43124751 single base substitution A G exon_variant PACA-CA 5 43124751 43124751 single base substitution A G intron_variant PACA-CA 5 43128087 43128087 single base substitution A T downstream_gene_variant PACA-CA 5 43128087 43128087 single base substitution A T intron_variant PACA-CA 5 43129181 43129181 single base substitution C T downstream_gene_variant PACA-CA 5 43129181 43129181 single base substitution C T intron_variant PACA-CA 5 43129833 43129833 single base substitution T C downstream_gene_variant PACA-CA 5 43129833 43129833 single base substitution T C intron_variant PACA-CA 5 43131294 43131294 single base substitution G T intron_variant PACA-CA 5 43131545 43131545 single base substitution G A intron_variant PACA-CA 5 43143667 43143667 single base substitution T A intron_variant PACA-CA 5 43145632 43145632 single base substitution T G intron_variant PACA-CA 5 43147081 43147081 single base substitution C G intron_variant PACA-CA 5 43150743 43150743 single base substitution A T intron_variant PACA-CA 5 43157004 43157004 single base substitution T C intron_variant PACA-CA 5 43157004 43157004 single base substitution T C upstream_gene_variant PACA-CA 5 43157311 43157311 single base substitution G A intron_variant PACA-CA 5 43157311 43157311 single base substitution G A upstream_gene_variant PACA-CA 5 43168311 43168311 deletion of <=200bp G - intron_variant PACA-CA 5 43168311 43168311 deletion of <=200bp G - upstream_gene_variant PACA-CA 5 43171559 43171559 single base substitution G C intron_variant PACA-CA 5 43171559 43171559 single base substitution G C upstream_gene_variant PACA-CA 5 43171738 43171738 single base substitution T A intron_variant PACA-CA 5 43171738 43171738 single base substitution T A upstream_gene_variant PACA-CA 5 43171743 43171743 single base substitution G C intron_variant PACA-CA 5 43171743 43171743 single base substitution G C upstream_gene_variant PACA-CA 5 43175283 43175283 single base substitution T C 3_prime_UTR_variant PACA-CA 5 43175283 43175283 single base substitution T C downstream_gene_variant PACA-CA 5 43175283 43175283 single base substitution T C intron_variant PACA-CA 5 43176091 43176091 single base substitution A G 3_prime_UTR_variant PACA-CA 5 43176091 43176091 single base substitution A G downstream_gene_variant PACA-CA 5 43176091 43176091 single base substitution A G intron_variant PACA-CA 5 43176442 43176442 single base substitution T A downstream_gene_variant PACA-CA 5 43176442 43176442 single base substitution T A intron_variant PACA-CA 5 43181251 43181251 single base substitution T A downstream_gene_variant PACA-CA 5 43181251 43181251 single base substitution T A intron_variant PACA-CA 5 43184513 43184513 single base substitution T G intron_variant PACA-CA 5 43186225 43186225 single base substitution G A intron_variant PACA-CA 5 43186754 43186754 single base substitution C T intron_variant PACA-CA 5 43188007 43188007 single base substitution G A intron_variant PACA-CA 5 43188409 43188409 single base substitution G T intron_variant PACA-CA 5 43189613 43189613 single base substitution C T intron_variant PACA-CA 5 43190214 43190214 single base substitution A T intron_variant PACA-CA 5 43194927 43194927 single base substitution T C downstream_gene_variant PAEN-AU 5 43072708 43072708 single base substitution T C intron_variant PAEN-AU 5 43078992 43078992 single base substitution C T intron_variant PAEN-AU 5 43106022 43106022 single base substitution A T intron_variant PAEN-AU 5 43110761 43110761 single base substitution G A intron_variant PAEN-AU 5 43191586 43191586 single base substitution C T intron_variant PAEN-IT 5 43065269 43065269 single base substitution C G upstream_gene_variant PAEN-IT 5 43084897 43084897 single base substitution C T downstream_gene_variant PAEN-IT 5 43084897 43084897 single base substitution C T intron_variant PAEN-IT 5 43100044 43100044 single base substitution G A downstream_gene_variant PAEN-IT 5 43100044 43100044 single base substitution G A intron_variant PAEN-IT 5 43125069 43125069 single base substitution C A downstream_gene_variant PAEN-IT 5 43125069 43125069 single base substitution C A exon_variant PAEN-IT 5 43125069 43125069 single base substitution C A intron_variant PAEN-IT 5 43143721 43143721 single base substitution G T intron_variant PBCA-DE 5 43060815 43060815 single base substitution A T upstream_gene_variant PBCA-DE 5 43072268 43072268 single base substitution G T intron_variant PBCA-DE 5 43075412 43075413 deletion of <=200bp AC - intron_variant PBCA-DE 5 43089221 43089221 insertion of <=200bp - GA intron_variant PBCA-DE 5 43119256 43119256 single base substitution T C intron_variant PBCA-DE 5 43119256 43119256 single base substitution T C upstream_gene_variant PBCA-DE 5 43120945 43120945 single base substitution G C intron_variant PBCA-DE 5 43120945 43120945 single base substitution G C upstream_gene_variant PBCA-DE 5 43123288 43123288 insertion of <=200bp - T downstream_gene_variant PBCA-DE 5 43123288 43123288 insertion of <=200bp - T intron_variant PBCA-DE 5 43142972 43142972 deletion of <=200bp C - intron_variant PBCA-DE 5 43157591 43157591 single base substitution G A intron_variant PBCA-DE 5 43157591 43157591 single base substitution G A upstream_gene_variant PBCA-DE 5 43162922 43162922 single base substitution G C downstream_gene_variant PBCA-DE 5 43162922 43162922 single base substitution G C intron_variant PBCA-DE 5 43191772 43191772 single base substitution G A intron_variant PRAD-CA 5 43084488 43084488 single base substitution C T downstream_gene_variant PRAD-CA 5 43084488 43084488 single base substitution C T intron_variant PRAD-CA 5 43111932 43111932 single base substitution C T intron_variant PRAD-CA 5 43126355 43126355 single base substitution A G downstream_gene_variant PRAD-CA 5 43126355 43126355 single base substitution A G intron_variant PRAD-CA 5 43155521 43155521 single base substitution C T intron_variant PRAD-CA 5 43158814 43158814 single base substitution G A intron_variant PRAD-CA 5 43158814 43158814 single base substitution G A upstream_gene_variant PRAD-CA 5 43186974 43186974 single base substitution G T intron_variant PRAD-UK 5 43077080 43077080 single base substitution T G intron_variant PRAD-UK 5 43085342 43085342 single base substitution A G downstream_gene_variant PRAD-UK 5 43085342 43085342 single base substitution A G intron_variant PRAD-UK 5 43107752 43107752 single base substitution C T intron_variant PRAD-UK 5 43113867 43113867 single base substitution G T intron_variant PRAD-UK 5 43115938 43115938 single base substitution A G intron_variant PRAD-UK 5 43119203 43119203 single base substitution G A intron_variant PRAD-UK 5 43119203 43119203 single base substitution G A upstream_gene_variant PRAD-UK 5 43121643 43121643 single base substitution C G 5_prime_UTR_variant PRAD-UK 5 43121643 43121643 single base substitution C G intron_variant PRAD-UK 5 43121643 43121643 single base substitution C G upstream_gene_variant PRAD-UK 5 43124430 43124433 deletion of <=200bp TAGC - downstream_gene_variant PRAD-UK 5 43124430 43124433 deletion of <=200bp TAGC - exon_variant PRAD-UK 5 43124430 43124433 deletion of <=200bp TAGC - intron_variant PRAD-UK 5 43131114 43131114 single base substitution C T intron_variant PRAD-UK 5 43138833 43138833 single base substitution C G intron_variant PRAD-UK 5 43141215 43141215 single base substitution T A intron_variant PRAD-UK 5 43177620 43177620 single base substitution G A downstream_gene_variant PRAD-UK 5 43177620 43177620 single base substitution G A intron_variant PRAD-UK 5 43192223 43192223 single base substitution C T downstream_gene_variant PRAD-UK 5 43195936 43195936 deletion of <=200bp G - downstream_gene_variant PRAD-US 5 43139402 43139402 single base substitution T G exon_variant PRAD-US 5 43139402 43139402 single base substitution T G intron_variant PRAD-US 5 43139402 43139402 single base substitution T G missense_variant L121R 362T>G PRAD-US 5 43174661 43174661 single base substitution A G 3_prime_UTR_variant PRAD-US 5 43174661 43174661 single base substitution A G exon_variant PRAD-US 5 43174661 43174661 single base substitution A G intron_variant PRAD-US 5 43174661 43174661 single base substitution A G missense_variant N399S 1196A>G PRAD-US 5 43174661 43174661 single base substitution A G missense_variant N433S 1298A>G RECA-EU 5 43095171 43095171 single base substitution A G downstream_gene_variant RECA-EU 5 43095171 43095171 single base substitution A G intron_variant RECA-EU 5 43098951 43098951 single base substitution A G intron_variant RECA-EU 5 43100976 43100976 single base substitution A C downstream_gene_variant RECA-EU 5 43100976 43100976 single base substitution A C intron_variant RECA-EU 5 43129659 43129659 single base substitution A G downstream_gene_variant RECA-EU 5 43129659 43129659 single base substitution A G intron_variant RECA-EU 5 43130495 43130495 single base substitution G T intron_variant RECA-EU 5 43131625 43131625 single base substitution C T intron_variant RECA-EU 5 43140978 43140978 single base substitution C T intron_variant RECA-EU 5 43160113 43160113 single base substitution C A intron_variant RECA-EU 5 43160113 43160113 single base substitution C A upstream_gene_variant RECA-EU 5 43160359 43160359 single base substitution C T intron_variant RECA-EU 5 43160359 43160359 single base substitution C T upstream_gene_variant RECA-EU 5 43163865 43163865 single base substitution A C downstream_gene_variant RECA-EU 5 43163865 43163865 single base substitution A C intron_variant RECA-EU 5 43181342 43181342 single base substitution C A downstream_gene_variant RECA-EU 5 43181342 43181342 single base substitution C A intron_variant SKCA-BR 5 43064717 43064717 insertion of <=200bp - AAACAACAAC upstream_gene_variant SKCA-BR 5 43065467 43065467 single base substitution G T intron_variant SKCA-BR 5 43065467 43065467 single base substitution G T upstream_gene_variant SKCA-BR 5 43067581 43067581 single base substitution C G intron_variant SKCA-BR 5 43067581 43067581 single base substitution C G upstream_gene_variant SKCA-BR 5 43072174 43072174 single base substitution A C intron_variant SKCA-BR 5 43073005 43073005 single base substitution G A intron_variant SKCA-BR 5 43073705 43073705 single base substitution C T intron_variant SKCA-BR 5 43075760 43075760 single base substitution C T intron_variant SKCA-BR 5 43078231 43078231 single base substitution C T intron_variant SKCA-BR 5 43079705 43079705 single base substitution C T intron_variant SKCA-BR 5 43083476 43083477 deletion of <=200bp TC - downstream_gene_variant SKCA-BR 5 43083476 43083477 deletion of <=200bp TC - intron_variant SKCA-BR 5 43083478 43083478 single base substitution T G downstream_gene_variant SKCA-BR 5 43083478 43083478 single base substitution T G intron_variant SKCA-BR 5 43084268 43084268 single base substitution G A downstream_gene_variant SKCA-BR 5 43084268 43084268 single base substitution G A intron_variant SKCA-BR 5 43084788 43084789 deletion of <=200bp GT - downstream_gene_variant SKCA-BR 5 43084788 43084789 deletion of <=200bp GT - intron_variant SKCA-BR 5 43085902 43085902 single base substitution C T intron_variant SKCA-BR 5 43086429 43086429 single base substitution G T intron_variant SKCA-BR 5 43087280 43087280 single base substitution G A intron_variant SKCA-BR 5 43087379 43087379 single base substitution G C intron_variant SKCA-BR 5 43087567 43087567 single base substitution T C intron_variant SKCA-BR 5 43087681 43087681 single base substitution C T intron_variant SKCA-BR 5 43087702 43087703 deletion of <=200bp AC - intron_variant SKCA-BR 5 43087819 43087819 single base substitution C T intron_variant SKCA-BR 5 43088403 43088403 insertion of <=200bp - AC intron_variant SKCA-BR 5 43088693 43088693 single base substitution C T intron_variant SKCA-BR 5 43088808 43088808 single base substitution T A intron_variant SKCA-BR 5 43089113 43089113 single base substitution C A intron_variant SKCA-BR 5 43100444 43100444 insertion of <=200bp - TTTTA downstream_gene_variant SKCA-BR 5 43100444 43100444 insertion of <=200bp - TTTTA intron_variant SKCA-BR 5 43100444 43100444 insertion of <=200bp - TTTTATTTA downstream_gene_variant SKCA-BR 5 43100444 43100444 insertion of <=200bp - TTTTATTTA intron_variant SKCA-BR 5 43100812 43100812 single base substitution C T downstream_gene_variant SKCA-BR 5 43100812 43100812 single base substitution C T intron_variant SKCA-BR 5 43102303 43102303 single base substitution C T downstream_gene_variant SKCA-BR 5 43102303 43102303 single base substitution C T intron_variant SKCA-BR 5 43103789 43103790 deletion of <=200bp GA - downstream_gene_variant SKCA-BR 5 43103789 43103790 deletion of <=200bp GA - intron_variant SKCA-BR 5 43106221 43106221 single base substitution C T intron_variant SKCA-BR 5 43109604 43109604 single base substitution G A intron_variant SKCA-BR 5 43109944 43109944 single base substitution C T intron_variant SKCA-BR 5 43112297 43112297 single base substitution C T intron_variant SKCA-BR 5 43112390 43112390 single base substitution T G intron_variant SKCA-BR 5 43115929 43115929 single base substitution C T intron_variant SKCA-BR 5 43117443 43117443 single base substitution A T intron_variant SKCA-BR 5 43117443 43117443 single base substitution A T upstream_gene_variant SKCA-BR 5 43117850 43117850 single base substitution C T intron_variant SKCA-BR 5 43117850 43117850 single base substitution C T upstream_gene_variant SKCA-BR 5 43119659 43119659 single base substitution T C intron_variant SKCA-BR 5 43119659 43119659 single base substitution T C upstream_gene_variant SKCA-BR 5 43120028 43120028 single base substitution G A missense_variant G2R 4G>A SKCA-BR 5 43120028 43120028 single base substitution G A upstream_gene_variant SKCA-BR 5 43120938 43120938 single base substitution A G intron_variant SKCA-BR 5 43120938 43120938 single base substitution A G upstream_gene_variant SKCA-BR 5 43121844 43121844 single base substitution C T 5_prime_UTR_variant SKCA-BR 5 43121844 43121844 single base substitution C T intron_variant SKCA-BR 5 43121844 43121844 single base substitution C T upstream_gene_variant SKCA-BR 5 43122987 43122987 single base substitution T G downstream_gene_variant SKCA-BR 5 43122987 43122987 single base substitution T G intron_variant SKCA-BR 5 43129704 43129704 single base substitution C T downstream_gene_variant SKCA-BR 5 43129704 43129704 single base substitution C T intron_variant SKCA-BR 5 43129953 43129953 single base substitution T G downstream_gene_variant SKCA-BR 5 43129953 43129953 single base substitution T G intron_variant SKCA-BR 5 43135628 43135628 single base substitution A G intron_variant SKCA-BR 5 43136728 43136731 deletion of <=200bp TTTC - intron_variant SKCA-BR 5 43141752 43141752 single base substitution C A intron_variant SKCA-BR 5 43141753 43141753 single base substitution C A intron_variant SKCA-BR 5 43143116 43143116 single base substitution T G intron_variant SKCA-BR 5 43143193 43143193 single base substitution C T intron_variant SKCA-BR 5 43145489 43145489 single base substitution T C intron_variant SKCA-BR 5 43148145 43148146 deletion of <=200bp CT - intron_variant SKCA-BR 5 43150916 43150916 single base substitution C T intron_variant SKCA-BR 5 43153752 43153752 single base substitution A G intron_variant SKCA-BR 5 43154562 43154562 single base substitution C T intron_variant SKCA-BR 5 43154668 43154668 single base substitution C T intron_variant SKCA-BR 5 43157741 43157741 single base substitution T C intron_variant SKCA-BR 5 43157741 43157741 single base substitution T C upstream_gene_variant SKCA-BR 5 43159797 43159797 insertion of <=200bp - CA intron_variant SKCA-BR 5 43159797 43159797 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 5 43160575 43160575 single base substitution C T intron_variant SKCA-BR 5 43160575 43160575 single base substitution C T upstream_gene_variant SKCA-BR 5 43161372 43161372 single base substitution C T exon_variant SKCA-BR 5 43161372 43161372 single base substitution C T intron_variant SKCA-BR 5 43161372 43161372 single base substitution C T synonymous_variant P131P 393C>T SKCA-BR 5 43161372 43161372 single base substitution C T upstream_gene_variant SKCA-BR 5 43162706 43162708 deletion of <=200bp AAG - downstream_gene_variant SKCA-BR 5 43162706 43162708 deletion of <=200bp AAG - intron_variant SKCA-BR 5 43162708 43162708 single base substitution G A downstream_gene_variant SKCA-BR 5 43162708 43162708 single base substitution G A intron_variant SKCA-BR 5 43162711 43162713 deletion of <=200bp AAG - downstream_gene_variant SKCA-BR 5 43162711 43162713 deletion of <=200bp AAG - intron_variant SKCA-BR 5 43163706 43163706 single base substitution A T downstream_gene_variant SKCA-BR 5 43163706 43163706 single base substitution A T intron_variant SKCA-BR 5 43166923 43166923 single base substitution A T intron_variant SKCA-BR 5 43170737 43170737 insertion of <=200bp - CT intron_variant SKCA-BR 5 43170737 43170737 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 5 43171115 43171115 single base substitution C T intron_variant SKCA-BR 5 43171115 43171115 single base substitution C T upstream_gene_variant SKCA-BR 5 43172139 43172139 single base substitution C T intron_variant SKCA-BR 5 43172139 43172139 single base substitution C T upstream_gene_variant SKCA-BR 5 43177733 43177733 single base substitution A C downstream_gene_variant SKCA-BR 5 43177733 43177733 single base substitution A C intron_variant SKCA-BR 5 43179030 43179030 single base substitution C T downstream_gene_variant SKCA-BR 5 43179030 43179030 single base substitution C T intron_variant SKCA-BR 5 43179720 43179720 single base substitution C T downstream_gene_variant SKCA-BR 5 43179720 43179720 single base substitution C T intron_variant SKCA-BR 5 43181081 43181081 single base substitution T C downstream_gene_variant SKCA-BR 5 43181081 43181081 single base substitution T C intron_variant SKCA-BR 5 43181342 43181342 single base substitution C T downstream_gene_variant SKCA-BR 5 43181342 43181342 single base substitution C T intron_variant SKCA-BR 5 43183986 43183987 deletion of <=200bp AT - intron_variant SKCA-BR 5 43184913 43184913 single base substitution C A intron_variant SKCA-BR 5 43187162 43187162 single base substitution G C intron_variant SKCA-BR 5 43188043 43188043 single base substitution T C intron_variant SKCA-BR 5 43190245 43190245 single base substitution C T intron_variant SKCA-BR 5 43192521 43192521 single base substitution A G downstream_gene_variant SKCA-BR 5 43194068 43194068 single base substitution C T downstream_gene_variant SKCA-BR 5 43194571 43194571 single base substitution T C downstream_gene_variant SKCA-BR 5 43194576 43194577 deletion of <=200bp TC - downstream_gene_variant SKCA-BR 5 43196142 43196142 single base substitution G A downstream_gene_variant SKCA-BR 5 43196536 43196536 single base substitution C T downstream_gene_variant SKCA-BR 5 43197044 43197044 insertion of <=200bp - CT downstream_gene_variant SKCM-US 5 43161823 43161823 single base substitution T G 3_prime_UTR_variant SKCM-US 5 43161823 43161823 single base substitution T G downstream_gene_variant SKCM-US 5 43161823 43161823 single base substitution T G exon_variant SKCM-US 5 43161823 43161823 single base substitution T G intron_variant SKCM-US 5 43161823 43161823 single base substitution T G missense_variant S248A 742T>G SKCM-US 5 43161823 43161823 single base substitution T G missense_variant S282A 844T>G SKCM-US 5 43161823 43161823 single base substitution T G upstream_gene_variant SKCM-US 5 43161961 43161961 single base substitution C T 3_prime_UTR_variant SKCM-US 5 43161961 43161961 single base substitution C T downstream_gene_variant SKCM-US 5 43161961 43161961 single base substitution C T exon_variant SKCM-US 5 43161961 43161961 single base substitution C T intron_variant SKCM-US 5 43161961 43161961 single base substitution C T missense_variant H294Y 880C>T SKCM-US 5 43161961 43161961 single base substitution C T missense_variant H328Y 982C>T SKCM-US 5 43174766 43174766 single base substitution C T 3_prime_UTR_variant SKCM-US 5 43174766 43174766 single base substitution C T exon_variant SKCM-US 5 43174766 43174766 single base substitution C T intron_variant SKCM-US 5 43174766 43174766 single base substitution C T missense_variant S434L 1301C>T SKCM-US 5 43174766 43174766 single base substitution C T missense_variant S468L 1403C>T SKCM-US 5 43174852 43174852 single base substitution C A 3_prime_UTR_variant SKCM-US 5 43174852 43174852 single base substitution C A downstream_gene_variant SKCM-US 5 43174852 43174852 single base substitution C A intron_variant SKCM-US 5 43174852 43174852 single base substitution C A missense_variant Q463K 1387C>A SKCM-US 5 43174852 43174852 single base substitution C A missense_variant Q497K 1489C>A STAD-US 5 43161497 43161497 single base substitution C T 3_prime_UTR_variant STAD-US 5 43161497 43161497 single base substitution C T downstream_gene_variant STAD-US 5 43161497 43161497 single base substitution C T exon_variant STAD-US 5 43161497 43161497 single base substitution C T intron_variant STAD-US 5 43161497 43161497 single base substitution C T missense_variant A173V 518C>T STAD-US 5 43161497 43161497 single base substitution C T upstream_gene_variant STAD-US 5 43161649 43161649 single base substitution G T 3_prime_UTR_variant STAD-US 5 43161649 43161649 single base substitution G T downstream_gene_variant STAD-US 5 43161649 43161649 single base substitution G T exon_variant STAD-US 5 43161649 43161649 single base substitution G T intron_variant STAD-US 5 43161649 43161649 single base substitution G T missense_variant G224C 670G>T STAD-US 5 43161649 43161649 single base substitution G T upstream_gene_variant STAD-US 5 43161820 43161820 single base substitution A G 3_prime_UTR_variant STAD-US 5 43161820 43161820 single base substitution A G downstream_gene_variant STAD-US 5 43161820 43161820 single base substitution A G exon_variant STAD-US 5 43161820 43161820 single base substitution A G intron_variant STAD-US 5 43161820 43161820 single base substitution A G missense_variant K247E 739A>G STAD-US 5 43161820 43161820 single base substitution A G missense_variant K281E 841A>G STAD-US 5 43161820 43161820 single base substitution A G upstream_gene_variant STAD-US 5 43161931 43161931 single base substitution A G 3_prime_UTR_variant STAD-US 5 43161931 43161931 single base substitution A G downstream_gene_variant STAD-US 5 43161931 43161931 single base substitution A G intron_variant STAD-US 5 43161931 43161931 single base substitution A G missense_variant S284G 850A>G STAD-US 5 43161931 43161931 single base substitution A G missense_variant S318G 952A>G STAD-US 5 43161931 43161931 single base substitution A G upstream_gene_variant STAD-US 5 43174664 43174664 single base substitution A G 3_prime_UTR_variant STAD-US 5 43174664 43174664 single base substitution A G exon_variant STAD-US 5 43174664 43174664 single base substitution A G intron_variant STAD-US 5 43174664 43174664 single base substitution A G missense_variant E400G 1199A>G STAD-US 5 43174664 43174664 single base substitution A G missense_variant E434G 1301A>G STAD-US 5 43174881 43174881 single base substitution C T 3_prime_UTR_variant STAD-US 5 43174881 43174881 single base substitution C T downstream_gene_variant STAD-US 5 43174881 43174881 single base substitution C T intron_variant STAD-US 5 43174881 43174881 single base substitution C T synonymous_variant S472S 1416C>T STAD-US 5 43174881 43174881 single base substitution C T synonymous_variant S506S 1518C>T UCEC-US 5 43161837 43161837 single base substitution G A 3_prime_UTR_variant UCEC-US 5 43161837 43161837 single base substitution G A downstream_gene_variant UCEC-US 5 43161837 43161837 single base substitution G A intron_variant UCEC-US 5 43161837 43161837 single base substitution G A synonymous_variant E252E 756G>A UCEC-US 5 43161837 43161837 single base substitution G A synonymous_variant E286E 858G>A UCEC-US 5 43161837 43161837 single base substitution G A upstream_gene_variant UCEC-US 5 43161997 43161997 single base substitution T G 3_prime_UTR_variant UCEC-US 5 43161997 43161997 single base substitution T G downstream_gene_variant UCEC-US 5 43161997 43161997 single base substitution T G exon_variant UCEC-US 5 43161997 43161997 single base substitution T G intron_variant UCEC-US 5 43161997 43161997 single base substitution T G missense_variant F306V 916T>G UCEC-US 5 43161997 43161997 single base substitution T G missense_variant F340V 1018T>G UCEC-US 5 43162022 43162022 single base substitution G A 3_prime_UTR_variant UCEC-US 5 43162022 43162022 single base substitution G A downstream_gene_variant UCEC-US 5 43162022 43162022 single base substitution G A exon_variant UCEC-US 5 43162022 43162022 single base substitution G A intron_variant UCEC-US 5 43162022 43162022 single base substitution G A missense_variant R314Q 941G>A UCEC-US 5 43162022 43162022 single base substitution G A missense_variant R348Q 1043G>A UCEC-US 5 43173452 43173452 single base substitution G T 3_prime_UTR_variant UCEC-US 5 43173452 43173452 single base substitution G T exon_variant UCEC-US 5 43173452 43173452 single base substitution G T intron_variant UCEC-US 5 43173452 43173452 single base substitution G T stop_gained E329* 985G>T UCEC-US 5 43173452 43173452 single base substitution G T stop_gained E363* 1087G>T UCEC-US 5 43174678 43174678 single base substitution C A 3_prime_UTR_variant UCEC-US 5 43174678 43174678 single base substitution C A exon_variant UCEC-US 5 43174678 43174678 single base substitution C A intron_variant UCEC-US 5 43174678 43174678 single base substitution C A missense_variant L405I 1213C>A UCEC-US 5 43174678 43174678 single base substitution C A missense_variant L439I 1315C>A UCEC-US 5 43174930 43174930 single base substitution A G 3_prime_UTR_variant UCEC-US 5 43174930 43174930 single base substitution A G downstream_gene_variant UCEC-US 5 43174930 43174930 single base substitution A G intron_variant UCEC-US 5 43174930 43174930 single base substitution A G missense_variant S489G 1465A>G UCEC-US 5 43174930 43174930 single base substitution A G missense_variant S523G 1567A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SC_9060 COSM5556348 c.50A>G p.H17R Substitution - Missense 5:43122103-43122103 + CCK81 COSM1437656 c.427delA p.R145fs*26 Deletion - Frameshift 5:43161304-43161304 + TCGA-C5-A1BQ-01 COSM4842586 c.622G>A p.D208N Substitution - Missense 5:43161499-43161499 + CHC879T COSM4806192 c.1338G>A p.V446V Substitution - coding silent 5:43174701-43174701 + TCGA-AM-5821-01 COSM3761235 c.372G>A p.R124R Substitution - coding silent 5:43161249-43161249 + ESCC_103 COSM5638271 c.728_729+2delAGGT p.? Unknown 5:43161605-43161608 + TCGA-AZ-4315-01 COSM1437658 c.790C>A p.L264I Substitution - Missense 5:43161769-43161769 + TCGA-BH-A0E7-01 COSM449694 c.1341A>G p.L447L Substitution - coding silent 5:43174704-43174704 + S00050 COSM318311 c.64delG p.D22fs*3 Deletion - Frameshift 5:43122117-43122117 + CHC892T COSM4958492 c.1325G>A p.G442E Substitution - Missense 5:43174688-43174688 + SNU-C4 COSM4653966 c.1056A>G p.K352K Substitution - coding silent 5:43173421-43173421 + S00050 COSM318311 c.64delG p.D22fs*3 Deletion - Frameshift 5:43122117-43122117 + ESCC-009T COSM3941330 c.614C>T p.S205F Substitution - Missense 5:43161491-43161491 + TCGA-AA-3663-01 COSM1437657 c.605G>A p.S202N Substitution - Missense 5:43161482-43161482 + TCGA-G9-7510-01 COSM1471816 c.1196A>G p.N399S Substitution - Missense 5:43174559-43174559 + H23 COSM1196347 c.1711G>A p.D571N Substitution - Missense 5:43175074-43175074 + TCGA-BR-A4QL-01 COSM3855352 c.1416C>T p.S472S Substitution - coding silent 5:43174779-43174779 + HCC118T COSM5813575 c.1435A>T p.M479L Substitution - Missense 5:43174798-43174798 + TCGA-BP-4775-01 COSM3366080 c.1611C>G p.I537M Substitution - Missense 5:43174974-43174974 + ESO-083 COSM1271016 c.1407C>T p.L469L Substitution - coding silent 5:43174770-43174770 + LP6005690-DNA_C02 COSM4411801 c.631C>G p.L211V Substitution - Missense 5:43161508-43161508 + S00472 COSM316715 c.349G>C p.A117P Substitution - Missense 5:43139287-43139287 + TCGA-AN-A0FD-01 COSM449690 c.508G>A p.V170I Substitution - Missense 5:43161385-43161385 + H650 COSM1194771 c.1505C>G p.T502S Substitution - Missense 5:43174868-43174868 + OSCC-GB_00410111 COSM3715207 c.1235C>A p.S412* Substitution - Nonsense 5:43174598-43174598 + TCGA-D1-A177-01 COSM1068377 c.482C>T p.A161V Substitution - Missense 5:43161359-43161359 + TCGA-G9-6371-01 COSM1132157 c.362T>G p.L121R Substitution - Missense 5:43139300-43139300 + CHC2052T COSM4789893 c.1157A>T p.N386I Substitution - Missense 5:43174520-43174520 + TCGA-FS-A1ZS-06 COSM3616719 c.1387C>A p.Q463K Substitution - Missense 5:43174750-43174750 + TCGA-BP-4762-01 COSM3366078 c.1031G>A p.C344Y Substitution - Missense 5:43173396-43173396 + DLD1 COSM3342566 c.63C>A p.L21L Substitution - coding silent 5:43122116-43122116 + T3090 COSM1437656 c.427delA p.R145fs*26 Deletion - Frameshift 5:43161304-43161304 + Gp2D COSM3342578 c.684G>A p.G228G Substitution - coding silent 5:43161561-43161561 + OV207 COSM252928 c.1597G>A p.V533M Substitution - Missense 5:43174960-43174960 + TCGA-ER-A193-06 COSM3616717 c.1301C>T p.S434L Substitution - Missense 5:43174664-43174664 + 41T COSM3715207 c.1235C>A p.S412* Substitution - Nonsense 5:43174598-43174598 + TCGA-AM-5821-01 COSM3761237 c.1529A>G p.H510R Substitution - Missense 5:43174892-43174892 + HCC77T COSM1620342 c.1674C>T p.H558H Substitution - coding silent 5:43175037-43175037 + RK137_C01 COSM1634242 c.889C>T p.Q297* Substitution - Nonsense 5:43161868-43161868 + PCSI_0469_Pa_P_526 COSM4808827 c.63C>T p.L21L Substitution - coding silent 5:43122116-43122116 + TCGA-B5-A11E-01 COSM1068383 c.1465A>G p.S489G Substitution - Missense 5:43174828-43174828 + YUKAT COSM5403561 c.1332G>A p.V444V Substitution - coding silent 5:43174695-43174695 + TCGA-63-5131-01 COSM738727 c.68G>T p.R23L Substitution - Missense 5:43122121-43122121 + TCGA-EE-A2MC-06 COSM3616713 c.742T>G p.S248A Substitution - Missense 5:43161721-43161721 + TCGA-33-4586-01 COSM738726 c.323C>T p.A108V Substitution - Missense 5:43139261-43139261 + TCGA-GC-A3YS-01 COSM3776718 c.85G>C p.E29Q Substitution - Missense 5:43122138-43122138 + TCGA-G3-A25S-01 COSM4926895 c.867T>C p.T289T Substitution - coding silent 5:43161846-43161846 + TCGA-CM-6674-01 COSM1437656 c.427delA p.R145fs*26 Deletion - Frameshift 5:43161304-43161304 + TCGA-BR-8363-01 COSM3855346 c.670G>T p.G224C Substitution - Missense 5:43161547-43161547 + TCGA-AO-A12G-01 COSM449691 c.530T>C p.I177T Substitution - Missense 5:43161407-43161407 + tumor_4166706 COSM3927491 c.1116G>A p.Q372Q Substitution - coding silent 5:43174479-43174479 + CHC892T COSM4958492 c.1325G>A p.G442E Substitution - Missense 5:43174688-43174688 + H23 COSM1196416 c.1157A>G p.N386S Substitution - Missense 5:43174520-43174520 + ZZUFHECRKL-G009T COSM5437394 c.1033C>T p.Q345* Substitution - Nonsense 5:43173398-43173398 + LIM1215 COSM4347943 c.166A>G p.S56G Substitution - Missense 5:43123250-43123250 + TCGA-CW-6093-01 COSM482841 c.444A>G p.A148A Substitution - coding silent 5:43161321-43161321 + ATL060 COSM5709708 c.778A>C p.N260H Substitution - Missense 5:43161757-43161757 + TCGA-A8-A09Z-01 COSM3828105 c.850A>G p.S284G Substitution - Missense 5:43161829-43161829 + TCGA-AP-A0LM-01 COSM1068382 c.1213C>A p.L405I Substitution - Missense 5:43174576-43174576 + SNUH_G26_S1 COSM4003540 c.1638C>T p.S546S Substitution - coding silent 5:43175001-43175001 + RK021_C01 COSM1634241 c.400G>A p.E134K Substitution - Missense 5:43161277-43161277 + RK217_C01 COSM3744887 c.1392C>T p.V464V Substitution - coding silent 5:43174755-43174755 + BD124T COSM5491894 c.1656G>T p.E552D Substitution - Missense 5:43175019-43175019 + CHEWS003 COSM1437657 c.605G>A p.S202N Substitution - Missense 5:43161482-43161482 + Pat_41_B COSM5868554 c.1630G>A p.E544K Substitution - Missense 5:43174993-43174993 + TCGA-Q1-A73O-01 COSM4835833 c.1498G>C p.E500Q Substitution - Missense 5:43174861-43174861 + 24 COSM4777604 c.1519G>T p.E507* Substitution - Nonsense 5:43174882-43174882 + TCGA-BG-A0MG-01 COSM1068376 c.304G>T p.A102S Substitution - Missense 5:43139242-43139242 + LUAD-B01102 COSM333186 c.1048G>A p.A350T Substitution - Missense 5:43173413-43173413 + TCGA-AN-A0XN-01 COSM449693 c.1153C>A p.P385T Substitution - Missense 5:43174516-43174516 + HT115 COSM3342581 c.785G>A p.R262Q Substitution - Missense 5:43161764-43161764 + T3535 COSM4743024 c.426_427insA p.R145fs*12 Insertion - Frameshift 5:43161303-43161304 + NCI-H23 COSM1196416 c.1157A>G p.N386S Substitution - Missense 5:43174520-43174520 + CHC2052T COSM4789893 c.1157A>T p.N386I Substitution - Missense 5:43174520-43174520 + TCGA-BS-A0UV-01 COSM1068378 c.756G>A p.E252E Substitution - coding silent 5:43161735-43161735 + TCGA-D1-A16X-01 COSM1068381 c.985G>T p.E329* Substitution - Nonsense 5:43173350-43173350 + TCGA-B5-A0JY-01 COSM1068379 c.916T>G p.F306V Substitution - Missense 5:43161895-43161895 + TCGA-BH-A0B5-01 COSM449696 c.1678G>C p.D560H Substitution - Missense 5:43175041-43175041 + S00472 COSM316715 c.349G>C p.A117P Substitution - Missense 5:43139287-43139287 + Pat_16_A COSM5868552 c.577G>T p.A193S Substitution - Missense 5:43161454-43161454 + 8034061 COSM3393592 c.1174G>C p.D392H Substitution - Missense 5:43174537-43174537 + GC_357T-GC_357N COSM4774087 c.267A>G p.T89T Substitution - coding silent 5:43139205-43139205 + TCGA-AR-A1AK-01 COSM449695 c.1539G>A p.R513R Substitution - coding silent 5:43174902-43174902 + BD120T COSM5514633 c.730-10C>G p.? Unknown 5:43161699-43161699 + TCGA-HU-A4GQ-01 COSM3828105 c.850A>G p.S284G Substitution - Missense 5:43161829-43161829 + YUFIT COSM3616717 c.1301C>T p.S434L Substitution - Missense 5:43174664-43174664 + TCGA-CG-5721-01 COSM3855348 c.739A>G p.K247E Substitution - Missense 5:43161718-43161718 + 205T COSM1727582 c.1588_1594delTTGGACC p.L530fs*2 Deletion - Frameshift 5:43174951-43174957 + H1155 COSM1195647 c.664C>T p.R222C Substitution - Missense 5:43161541-43161541 + HCT15 COSM3342566 c.63C>A p.L21L Substitution - coding silent 5:43122116-43122116 + BHY COSM4592224 c.1631A>T p.E544V Substitution - Missense 5:43174994-43174994 + TCGA-EB-A5UN-06 COSM3616715 c.880C>T p.H294Y Substitution - Missense 5:43161859-43161859 + TCGA-CF-A1HR-01 COSM420695 c.804A>G p.A268A Substitution - coding silent 5:43161783-43161783 + TCGA-F4-6856-01 COSM1437659 c.1050delA p.G353fs*26 Deletion - Frameshift 5:43173415-43173415 + TCGA-D1-A17Q-01 COSM1068380 c.941G>A p.R314Q Substitution - Missense 5:43161920-43161920 + TCGA-CG-5723-01 COSM3855344 c.518C>T p.A173V Substitution - Missense 5:43161395-43161395 + OSCC-GB_00740111 COSM4890889 c.1534G>T p.E512* Substitution - Nonsense 5:43174897-43174897 + HCC77 COSM1620342 c.1674C>T p.H558H Substitution - coding silent 5:43175037-43175037 + CHC879T COSM4806192 c.1338G>A p.V446V Substitution - coding silent 5:43174701-43174701 + LP6007508-DNA_A01 COSM5951909 c.1377G>T p.V459V Substitution - coding silent 5:43174740-43174740 + TCGA-BR-8487-01 COSM3855350 c.1199A>G p.E400G Substitution - Missense 5:43174562-43174562 + TCGA-AN-A0XW-01 COSM449692 c.807G>C p.W269C Substitution - Missense 5:43161786-43161786 + Au1 COSM5597928 c.1235C>T p.S412L Substitution - Missense 5:43174598-43174598 + TCGA-34-2596-01 COSM738725 c.1602C>A p.T534T Substitution - coding silent 5:43174965-43174965 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.535804 5p12 604073 2457480|CGAP|BC035875|A/C|non-coding||1847|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.729+16A>G 5 43161724 HNSC A G Missense p.E544G c.1631A>G 5 43175096 LUAD A G Missense p.N399S c.1196A>G 5 43174661 PRAD A G Synonymous p.A148A c.444A>G 5 43161423 RCCC A G Synonymous p.A268A c.804A>G 5 43161885 BLCA A G Synonymous p.L447L c.1341A>G 5 43174806 BRCA A T 5-UTRSNV . c.1-32A>T 5 43122124 STAD A T Synonymous p.T137T c.411A>T 5 43161390 HNSC C A Missense p.P385T c.1153C>A 5 43174618 BRCA C A Missense p.Q463K c.1387C>A 5 43174852 CM C A Synonymous p.T534T c.1602C>A 5 43175067 LUSC C G Missense p.I537M c.1611C>G 5 43175076 RCCC C T Missense p.A108V c.323C>T 5 43139363 LUSC C T Missense p.P535S c.1603C>T 5 43175068 CM C T Missense p.S434L c.1301C>T 5 43174766 CM C T Nonsense p.Q297* c.889C>T 5 43161970 HC C T Synonymous p.L469L c.1407C>T 5 43174872 ESCA G A Missense p.C344Y c.1031G>A 5 43173498 RCCC G A Missense p.E134K c.400G>A 5 43161379 HC G A Missense p.E499K c.1495G>A 5 43174960 LUAD G A Missense p.V170I c.508G>A 5 43161487 BRCA G A Synonymous p.R513R c.1539G>A 5 43175004 BRCA G C Missense p.A117P c.349G>C 5 43139389 SCLC G C Missense p.D560H c.1678G>C 5 43175143 BRCA G C Missense p.W269C c.807G>C 5 43161888 BRCA G - Frameshift p.D22Tfs*3 c.64delG 5 43122219 SCLC G T Missense p.R23L c.68G>T 5 43122223 LUSC G T Missense p.V461L c.1381G>T 5 43174846 LUAD G T Synonymous p.V179V c.537G>T 5 43161516 LUAD T C Missense p.I177T c.530T>C 5 43161509 BRCA T G Missense p.L121R c.362T>G 5 43139402 PRAD T G Missense p.S248A c.742T>G 5 43161823 CM