Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 5 16067594 16067594 + Missense_Mutation SNP C C T TCGA-FD-A3B5-01A-11D-A20D-08 TCGA-FD-A3B5-10A-01D-A20D-08 g.chr5:16067594C>T c.1195G>A c.(1195-1197)Gtg>Atg p.V399M BLCA 5 16067687 16067687 + Missense_Mutation SNP G G T TCGA-G2-AA3C-01A-21D-A391-08 TCGA-G2-AA3C-10A-01D-A394-08 g.chr5:16067687G>T c.1102C>A c.(1102-1104)Cag>Aag p.Q368K BLCA 5 16067768 16067768 + Missense_Mutation SNP T T C TCGA-GV-A3QK-01B-11D-A23M-08 TCGA-GV-A3QK-10A-01D-A23K-08 g.chr5:16067768T>C c.1021A>G c.(1021-1023)Agt>Ggt p.S341G BLCA 5 16177875 16177875 + Missense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr5:16177875C>T c.653G>A c.(652-654)aGa>aAa p.R218K BLCA 5 16177939 16177939 + Missense_Mutation SNP G G T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr5:16177939G>T c.589C>A c.(589-591)Cag>Aag p.Q197K BRCA 5 16091158 16091158 + Missense_Mutation SNP T T G TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr5:16091158T>G c.726A>C c.(724-726)aaA>aaC p.K242N CESC 5 16067780 16067780 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 g.chr5:16067780C>G c.1009G>C c.(1009-1011)Gag>Cag p.E337Q COAD 5 16091037 16091037 + Missense_Mutation SNP A A G TCGA-DM-A1D8-01A-11D-A152-10 TCGA-DM-A1D8-10A-01D-A152-10 g.chr5:16091037A>G c.847T>C c.(847-849)Tgc>Cgc p.C283R COAD 5 16091106 16091106 + Missense_Mutation SNP T T C TCGA-AD-6548-01A-11D-1835-10 TCGA-AD-6548-10A-01D-1835-10 g.chr5:16091106T>C c.778A>G c.(778-780)Act>Gct p.T260A COADREAD 5 16067614 16067614 + Missense_Mutation SNP G G A TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr5:16067614G>A c.1175C>T c.(1174-1176)tCg>tTg p.S392L COADREAD 5 16067624 16067624 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:16067624C>A c.1165G>T c.(1165-1167)Gat>Tat p.D389Y COADREAD 5 16091037 16091037 + Missense_Mutation SNP A A G TCGA-DM-A1D8-01A-11D-A152-10 TCGA-DM-A1D8-10A-01D-A152-10 g.chr5:16091037A>G c.847T>C c.(847-849)Tgc>Cgc p.C283R COADREAD 5 16091106 16091106 + Missense_Mutation SNP T T C TCGA-AD-6548-01A-11D-1835-10 TCGA-AD-6548-10A-01D-1835-10 g.chr5:16091106T>C c.778A>G c.(778-780)Act>Gct p.T260A DLBC 5 16091041 16091041 + Silent SNP C C T TCGA-RQ-A68N-01A-11D-A31X-10 TCGA-RQ-A68N-10A-01D-A31X-10 g.chr5:16091041C>T c.843G>A c.(841-843)caG>caA p.Q281Q ESCA 5 16091158 16091158 + Missense_Mutation SNP T T G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 g.chr5:16091158T>G c.726A>C c.(724-726)aaA>aaC p.K242N GBMLGG 5 16067657 16067657 + Missense_Mutation SNP T T C TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 g.chr5:16067657T>C c.1132A>G c.(1132-1134)Aat>Gat p.N378D HNSC 5 16067784 16067784 + Silent SNP C C A TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr5:16067784C>A c.1005G>T c.(1003-1005)cgG>cgT p.R335R HNSC 5 16067854 16067854 + Missense_Mutation SNP C C A TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 g.chr5:16067854C>A c.935G>T c.(934-936)tGg>tTg p.W312L HNSC 5 16067874 16067874 + Silent SNP A A T TCGA-CQ-5331-01A-02D-1870-08 TCGA-CQ-5331-10A-01D-1870-08 g.chr5:16067874A>T c.915T>A c.(913-915)gtT>gtA p.V305V HNSC 5 16091177 16091177 + Missense_Mutation SNP G G T TCGA-QK-A8Z7-01A-11D-A391-08 TCGA-QK-A8Z7-10A-01D-A394-08 g.chr5:16091177G>T c.707C>A c.(706-708)tCt>tAt p.S236Y HNSC 5 16177895 16177895 + Silent SNP G G T TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 g.chr5:16177895G>T c.633C>A c.(631-633)acC>acA p.T211T HNSC 5 16177931 16177931 + Nonsense_Mutation SNP G G T TCGA-F7-A623-01A-11D-A28R-08 TCGA-F7-A623-10A-01D-A28U-08 g.chr5:16177931G>T c.597C>A c.(595-597)tgC>tgA p.C199* KIPAN 5 16067810 16067810 + Missense_Mutation SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 g.chr5:16067810C>T c.979G>A c.(979-981)Gcc>Acc p.A327T KIRC 5 16067810 16067810 + Missense_Mutation SNP C C T TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 g.chr5:16067810C>T c.979G>A c.(979-981)Gcc>Acc p.A327T LGG 5 16067657 16067657 + Missense_Mutation SNP T T C TCGA-DU-6402-01A-11D-1705-08 TCGA-DU-6402-10A-01D-1705-08 g.chr5:16067657T>C c.1132A>G c.(1132-1134)Aat>Gat p.N378D LIHC 5 16067614 16067614 + Nonsense_Mutation SNP G G T TCGA-2Y-A9GY-01A-11D-A382-10 TCGA-2Y-A9GY-10A-01D-A385-10 g.chr5:16067614G>T c.1175C>A c.(1174-1176)tCg>tAg p.S392* LIHC 5 16067841 16067841 + Missense_Mutation SNP A A C TCGA-ED-A4XI-01A-11D-A25V-10 TCGA-ED-A4XI-10A-01D-A25V-10 g.chr5:16067841A>C c.948T>G c.(946-948)aaT>aaG p.N316K LUAD 5 16067613 16067613 + Silent SNP C C A TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr5:16067613C>A c.1176G>T c.(1174-1176)tcG>tcT p.S392S LUAD 5 16067691 16067691 + Missense_Mutation SNP C C G TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr5:16067691C>G c.1098G>C c.(1096-1098)agG>agC p.R366S LUAD 5 16067750 16067750 + Missense_Mutation SNP G G T TCGA-MP-A4TC-01A-11D-A24P-08 TCGA-MP-A4TC-10A-01D-A24P-08 g.chr5:16067750G>T c.1039C>A c.(1039-1041)Cca>Aca p.P347T LUAD 5 16067755 16067755 + Missense_Mutation SNP C C G TCGA-44-6778-01A-11D-1855-08 TCGA-44-6778-10A-01D-1855-08 g.chr5:16067755C>G c.1034G>C c.(1033-1035)tGg>tCg p.W345S LUAD 5 16067773 16067773 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr5:16067773G>T c.1016C>A c.(1015-1017)tCc>tAc p.S339Y LUAD 5 16067786 16067786 + Silent SNP G G T TCGA-97-A4M7-01A-11D-A24P-08 TCGA-97-A4M7-10A-01D-A24P-08 g.chr5:16067786G>T c.1003C>A c.(1003-1005)Cgg>Agg p.R335R LUAD 5 16067808 16067808 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr5:16067808G>T c.981C>A c.(979-981)gcC>gcA p.A327A LUAD 5 16067809 16067809 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr5:16067809G>T c.980C>A c.(979-981)gCc>gAc p.A327D LUAD 5 16067851 16067851 + Frame_Shift_Del DEL C C - TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr5:16067851delC c.938delG c.(937-939)cgafs p.R313fs LUAD 5 16067856 16067856 + Silent SNP G G T TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chr5:16067856G>T c.933C>A c.(931-933)cgC>cgA p.R311R LUAD 5 16067857 16067857 + Missense_Mutation SNP C C T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr5:16067857C>T c.932G>A c.(931-933)cGc>cAc p.R311H LUAD 5 16067868 16067868 + Silent SNP T T C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr5:16067868T>C c.921A>G c.(919-921)agA>agG p.R307R LUAD 5 16067903 16067903 + Splice_Site SNP C C G TCGA-50-5045-01A-01D-1625-08 TCGA-50-5045-10A-01D-1625-08 g.chr5:16067903C>G c.e4-1 LUAD 5 16091000 16091000 + Missense_Mutation SNP A A G TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr5:16091000A>G c.884T>C c.(883-885)aTa>aCa p.I295T LUAD 5 16091001 16091001 + Missense_Mutation SNP T T G TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr5:16091001T>G c.883A>C c.(883-885)Ata>Cta p.I295L LUAD 5 16091087 16091087 + Missense_Mutation SNP G G T TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr5:16091087G>T c.797C>A c.(796-798)gCc>gAc p.A266D LUAD 5 16091095 16091095 + Silent SNP G G A TCGA-55-A48Y-01A-11D-A24D-08 TCGA-55-A48Y-10A-01D-A24F-08 g.chr5:16091095G>A c.789C>T c.(787-789)ctC>ctT p.L263L LUAD 5 16091111 16091111 + Missense_Mutation SNP C C A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr5:16091111C>A c.773G>T c.(772-774)aGt>aTt p.S258I LUAD 5 16091127 16091127 + Missense_Mutation SNP G G C TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr5:16091127G>C c.757C>G c.(757-759)Ctg>Gtg p.L253V LUAD 5 16177928 16177928 + Silent SNP C C T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr5:16177928C>T c.600G>A c.(598-600)ctG>ctA p.L200L LUAD 5 16177940 16177940 + Missense_Mutation SNP A A C TCGA-17-Z016-01A-01W-0746-08 TCGA-17-Z016-11A-01W-0746-08 g.chr5:16177940A>C c.588T>G c.(586-588)caT>caG p.H196Q LUAD 5 16177941 16177941 + Missense_Mutation SNP T T A TCGA-55-1595-01A-01D-0969-08 TCGA-55-1595-11A-01D-0969-08 g.chr5:16177941T>A c.587A>T c.(586-588)cAt>cTt p.H196L LUAD 5 16177988 16177988 + Silent SNP A A T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr5:16177988A>T c.540T>A c.(538-540)ggT>ggA p.G180G LUAD 5 16177991 16177991 + Splice_Site SNP C C T TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 g.chr5:16177991C>T c.e2-1 LUSC 5 16067764 16067764 + Missense_Mutation SNP C C G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr5:16067764C>G c.1025G>C c.(1024-1026)aGg>aCg p.R342T LUSC 5 16090997 16090997 + Splice_Site SNP C C A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 g.chr5:16090997C>A c.e3+1 LUSC 5 16177920 16177920 + Nonsense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr5:16177920C>T c.608G>A c.(607-609)tGg>tAg p.W203* OV 5 16067758 16067758 + Missense_Mutation SNP A A G TCGA-24-1850-01A-01W-0639-09 TCGA-24-1850-10A-01W-0639-09 g.chr5:16067758A>G c.1031T>C c.(1030-1032)tTg>tCg p.L344S PAAD 5 16177968 16177968 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:16177968C>T c.560G>A c.(559-561)cGa>cAa p.R187Q READ 5 16067614 16067614 + Missense_Mutation SNP G G A TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr5:16067614G>A c.1175C>T c.(1174-1176)tCg>tTg p.S392L READ 5 16067624 16067624 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:16067624C>A c.1165G>T c.(1165-1167)Gat>Tat p.D389Y SARC 5 16067845 16067845 + Missense_Mutation SNP A A G TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 g.chr5:16067845A>G c.944T>C c.(943-945)gTg>gCg p.V315A SKCM 5 16067614 16067614 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr5:16067614G>A c.1175C>T c.(1174-1176)tCg>tTg p.S392L SKCM 5 16067654 16067654 + Missense_Mutation SNP G G A TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 g.chr5:16067654G>A c.1135C>T c.(1135-1137)Cgg>Tgg p.R379W SKCM 5 16067685 16067685 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr5:16067685C>T c.1104G>A c.(1102-1104)caG>caA p.Q368Q SKCM 5 16067687 16067687 + Nonsense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:16067687G>A c.1102C>T c.(1102-1104)Cag>Tag p.Q368* SKCM 5 16067851 16067851 + Missense_Mutation SNP C C T TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr5:16067851C>T c.938G>A c.(937-939)cGa>cAa p.R313Q SKCM 5 16067851 16067851 + Missense_Mutation SNP C C T TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr5:16067851C>T c.938G>A c.(937-939)cGa>cAa p.R313Q SKCM 5 16067884 16067884 + Missense_Mutation SNP C C T TCGA-D3-A2J7-06A-11D-A196-08 TCGA-D3-A2J7-10A-01D-A198-08 g.chr5:16067884C>T c.905G>A c.(904-906)gGa>gAa p.G302E SKCM 5 16091132 16091132 + Missense_Mutation SNP C C T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 g.chr5:16091132C>T c.752G>A c.(751-753)gGa>gAa p.G251E SKCM 5 16091132 16091132 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr5:16091132C>T c.752G>A c.(751-753)gGa>gAa p.G251E SKCM 5 16091177 16091177 + Missense_Mutation SNP G G A TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 g.chr5:16091177G>A c.707C>T c.(706-708)tCt>tTt p.S236F SKCM 5 16177850 16177850 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr5:16177850C>T c.678G>A c.(676-678)atG>atA p.M226I SKCM 5 16177888 16177888 + Missense_Mutation SNP G G A TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr5:16177888G>A c.640C>T c.(640-642)Ctt>Ttt p.L214F

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 16067594 16067594 single base substitution C T 3_prime_UTR_variant BLCA-US 5 16067594 16067594 single base substitution C T missense_variant V399M 1195G>A BLCA-US 5 16067768 16067768 single base substitution T C 3_prime_UTR_variant BLCA-US 5 16067768 16067768 single base substitution T C missense_variant S341G 1021A>G BLCA-US 5 16177875 16177875 single base substitution C T exon_variant BLCA-US 5 16177875 16177875 single base substitution C T missense_variant R218K 653G>A BLCA-US 5 16177875 16177875 single base substitution C T missense_variant R21K 62G>A BLCA-US 5 16177939 16177939 single base substitution G T exon_variant BLCA-US 5 16177939 16177939 single base substitution G T missense_variant Q197K 589C>A BLCA-US 5 16177939 16177939 single base substitution G T upstream_gene_variant BOCA-FR 5 16094509 16094509 single base substitution T G intron_variant BOCA-FR 5 16135544 16135544 single base substitution A G intron_variant BRCA-EU 5 16062545 16062545 insertion of <=200bp - T downstream_gene_variant BRCA-EU 5 16062946 16062946 single base substitution C A downstream_gene_variant BRCA-EU 5 16063120 16063120 single base substitution G T downstream_gene_variant BRCA-EU 5 16063553 16063553 single base substitution A T downstream_gene_variant BRCA-EU 5 16063966 16063966 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 16064310 16064310 single base substitution G T downstream_gene_variant BRCA-EU 5 16065050 16065050 single base substitution A T downstream_gene_variant BRCA-EU 5 16065469 16065469 single base substitution C T downstream_gene_variant BRCA-EU 5 16067400 16067400 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 16067400 16067400 single base substitution G A downstream_gene_variant BRCA-EU 5 16068018 16068020 deletion of <=200bp AAT - intron_variant BRCA-EU 5 16068323 16068323 single base substitution A T intron_variant BRCA-EU 5 16068662 16068662 single base substitution A T intron_variant BRCA-EU 5 16069391 16069392 deletion of <=200bp AC - intron_variant BRCA-EU 5 16069458 16069458 single base substitution T C intron_variant BRCA-EU 5 16072370 16072370 single base substitution A G intron_variant BRCA-EU 5 16072754 16072754 single base substitution C A intron_variant BRCA-EU 5 16073046 16073046 single base substitution A C intron_variant BRCA-EU 5 16073359 16073359 single base substitution T C intron_variant BRCA-EU 5 16076832 16076832 single base substitution G T intron_variant BRCA-EU 5 16077151 16077151 single base substitution G A intron_variant BRCA-EU 5 16077248 16077248 single base substitution C T intron_variant BRCA-EU 5 16077745 16077745 single base substitution G A intron_variant BRCA-EU 5 16077772 16077772 single base substitution A C intron_variant BRCA-EU 5 16077920 16077920 single base substitution G C intron_variant BRCA-EU 5 16078111 16078111 single base substitution C T intron_variant BRCA-EU 5 16078636 16078636 single base substitution G T intron_variant BRCA-EU 5 16080833 16080833 single base substitution A T intron_variant BRCA-EU 5 16082392 16082392 single base substitution A G intron_variant BRCA-EU 5 16083545 16083545 single base substitution A G intron_variant BRCA-EU 5 16083775 16083775 single base substitution C A intron_variant BRCA-EU 5 16083841 16083841 single base substitution T C intron_variant BRCA-EU 5 16084867 16084867 single base substitution T A intron_variant BRCA-EU 5 16085278 16085278 single base substitution G C intron_variant BRCA-EU 5 16085678 16085678 single base substitution C G intron_variant BRCA-EU 5 16086474 16086474 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 16086474 16086474 deletion of <=200bp T - intron_variant BRCA-EU 5 16086887 16086887 single base substitution A T downstream_gene_variant BRCA-EU 5 16086887 16086887 single base substitution A T intron_variant BRCA-EU 5 16088333 16088333 single base substitution G C downstream_gene_variant BRCA-EU 5 16088333 16088333 single base substitution G C intron_variant BRCA-EU 5 16088439 16088439 single base substitution G A downstream_gene_variant BRCA-EU 5 16088439 16088439 single base substitution G A intron_variant BRCA-EU 5 16089368 16089368 single base substitution C A downstream_gene_variant BRCA-EU 5 16089368 16089368 single base substitution C A intron_variant BRCA-EU 5 16089863 16089863 single base substitution C G downstream_gene_variant BRCA-EU 5 16089863 16089863 single base substitution C G intron_variant BRCA-EU 5 16089864 16089864 single base substitution C T downstream_gene_variant BRCA-EU 5 16089864 16089864 single base substitution C T intron_variant BRCA-EU 5 16089882 16089882 single base substitution T A downstream_gene_variant BRCA-EU 5 16089882 16089882 single base substitution T A intron_variant BRCA-EU 5 16089962 16089962 single base substitution T A downstream_gene_variant BRCA-EU 5 16089962 16089962 single base substitution T A intron_variant BRCA-EU 5 16090450 16090450 single base substitution C G downstream_gene_variant BRCA-EU 5 16090450 16090450 single base substitution C G intron_variant BRCA-EU 5 16090644 16090644 single base substitution T G downstream_gene_variant BRCA-EU 5 16090644 16090644 single base substitution T G intron_variant BRCA-EU 5 16091677 16091677 single base substitution C G intron_variant BRCA-EU 5 16091691 16091691 single base substitution C G intron_variant BRCA-EU 5 16092119 16092119 single base substitution A T intron_variant BRCA-EU 5 16092313 16092313 insertion of <=200bp - CT intron_variant BRCA-EU 5 16092428 16092428 single base substitution A C intron_variant BRCA-EU 5 16092574 16092574 single base substitution G C intron_variant BRCA-EU 5 16093441 16093441 single base substitution A T intron_variant BRCA-EU 5 16093754 16093754 single base substitution G C intron_variant BRCA-EU 5 16094432 16094432 single base substitution C G intron_variant BRCA-EU 5 16095028 16095028 single base substitution C A intron_variant BRCA-EU 5 16095277 16095277 single base substitution A G intron_variant BRCA-EU 5 16095884 16095884 single base substitution C T intron_variant BRCA-EU 5 16095935 16095935 single base substitution T G intron_variant BRCA-EU 5 16097379 16097379 single base substitution C T intron_variant BRCA-EU 5 16097642 16097642 single base substitution G T intron_variant BRCA-EU 5 16098400 16098400 single base substitution C T intron_variant BRCA-EU 5 16099240 16099240 single base substitution G C intron_variant BRCA-EU 5 16099715 16099715 single base substitution G T intron_variant BRCA-EU 5 16100000 16100000 single base substitution G T intron_variant BRCA-EU 5 16100561 16100561 single base substitution G T intron_variant BRCA-EU 5 16101566 16101566 single base substitution A T intron_variant BRCA-EU 5 16102830 16102830 single base substitution C T intron_variant BRCA-EU 5 16103232 16103233 deletion of <=200bp AC - intron_variant BRCA-EU 5 16103234 16103234 insertion of <=200bp - A intron_variant BRCA-EU 5 16103323 16103323 single base substitution G A intron_variant BRCA-EU 5 16103919 16103919 single base substitution T A intron_variant BRCA-EU 5 16104297 16104297 single base substitution T G intron_variant BRCA-EU 5 16104313 16104313 single base substitution G A intron_variant BRCA-EU 5 16105490 16105490 single base substitution G A intron_variant BRCA-EU 5 16106908 16106908 single base substitution C G intron_variant BRCA-EU 5 16107427 16107427 single base substitution G C intron_variant BRCA-EU 5 16107514 16107514 single base substitution T C intron_variant BRCA-EU 5 16107833 16107833 single base substitution A T intron_variant BRCA-EU 5 16109472 16109472 single base substitution G A intron_variant BRCA-EU 5 16110394 16110394 single base substitution C T intron_variant BRCA-EU 5 16110426 16110426 single base substitution A T intron_variant BRCA-EU 5 16110930 16110930 single base substitution G C intron_variant BRCA-EU 5 16111449 16111449 single base substitution A G intron_variant BRCA-EU 5 16111578 16111578 single base substitution A T intron_variant BRCA-EU 5 16111785 16111785 single base substitution G A intron_variant BRCA-EU 5 16113034 16113034 single base substitution C T intron_variant BRCA-EU 5 16113947 16113947 single base substitution C T intron_variant BRCA-EU 5 16113948 16113948 single base substitution A T intron_variant BRCA-EU 5 16115299 16115299 single base substitution G A intron_variant BRCA-EU 5 16115968 16115968 single base substitution T A intron_variant BRCA-EU 5 16115983 16115983 single base substitution G A intron_variant BRCA-EU 5 16116841 16116841 single base substitution A G intron_variant BRCA-EU 5 16117215 16117215 single base substitution T C intron_variant BRCA-EU 5 16117872 16117872 single base substitution C T intron_variant BRCA-EU 5 16118387 16118387 single base substitution G A intron_variant BRCA-EU 5 16118808 16118808 single base substitution G A intron_variant BRCA-EU 5 16119380 16119380 single base substitution G A intron_variant BRCA-EU 5 16121366 16121366 deletion of <=200bp T - intron_variant BRCA-EU 5 16121367 16121367 single base substitution T G intron_variant BRCA-EU 5 16121715 16121715 single base substitution A T intron_variant BRCA-EU 5 16121956 16121956 single base substitution A G intron_variant BRCA-EU 5 16122304 16122304 single base substitution G A intron_variant BRCA-EU 5 16123391 16123391 single base substitution C T intron_variant BRCA-EU 5 16124632 16124632 single base substitution C G intron_variant BRCA-EU 5 16124919 16124919 single base substitution T A intron_variant BRCA-EU 5 16125065 16125065 single base substitution G C intron_variant BRCA-EU 5 16125103 16125103 single base substitution T C intron_variant BRCA-EU 5 16125917 16125917 single base substitution A C intron_variant BRCA-EU 5 16127552 16127552 single base substitution G A intron_variant BRCA-EU 5 16127565 16127565 single base substitution C A intron_variant BRCA-EU 5 16128056 16128056 single base substitution T C intron_variant BRCA-EU 5 16128732 16128732 single base substitution G A intron_variant BRCA-EU 5 16128802 16128802 single base substitution G A intron_variant BRCA-EU 5 16129560 16129560 deletion of <=200bp T - intron_variant BRCA-EU 5 16129605 16129605 single base substitution G C intron_variant BRCA-EU 5 16130643 16130643 single base substitution G C intron_variant BRCA-EU 5 16130732 16130732 single base substitution G T intron_variant BRCA-EU 5 16131160 16131160 single base substitution T C intron_variant BRCA-EU 5 16132029 16132029 single base substitution G T intron_variant BRCA-EU 5 16133184 16133184 deletion of <=200bp T - intron_variant BRCA-EU 5 16133184 16133184 insertion of <=200bp - T intron_variant BRCA-EU 5 16133243 16133243 single base substitution C G intron_variant BRCA-EU 5 16133617 16133617 single base substitution C A intron_variant BRCA-EU 5 16135309 16135309 single base substitution C A intron_variant BRCA-EU 5 16136266 16136266 single base substitution T C intron_variant BRCA-EU 5 16137656 16137656 single base substitution G T intron_variant BRCA-EU 5 16138080 16138080 single base substitution C G intron_variant BRCA-EU 5 16138954 16138954 single base substitution C T intron_variant BRCA-EU 5 16139551 16139551 single base substitution C G intron_variant BRCA-EU 5 16139614 16139614 single base substitution A T intron_variant BRCA-EU 5 16139877 16139877 deletion of <=200bp T - intron_variant BRCA-EU 5 16140924 16140924 single base substitution C T intron_variant BRCA-EU 5 16143234 16143234 deletion of <=200bp T - intron_variant BRCA-EU 5 16143239 16143239 single base substitution C G intron_variant BRCA-EU 5 16143381 16143381 single base substitution G A intron_variant BRCA-EU 5 16143712 16143712 single base substitution A C intron_variant BRCA-EU 5 16143723 16143723 single base substitution C T intron_variant BRCA-EU 5 16143729 16143729 single base substitution C G intron_variant BRCA-EU 5 16144586 16144586 single base substitution A C intron_variant BRCA-EU 5 16144620 16144620 single base substitution G T intron_variant BRCA-EU 5 16145191 16145191 single base substitution G T intron_variant BRCA-EU 5 16145643 16145643 single base substitution A G intron_variant BRCA-EU 5 16145850 16145850 single base substitution G C intron_variant BRCA-EU 5 16147005 16147005 single base substitution G C intron_variant BRCA-EU 5 16147407 16147407 single base substitution T C intron_variant BRCA-EU 5 16147647 16147647 single base substitution T C intron_variant BRCA-EU 5 16147849 16147849 single base substitution C T intron_variant BRCA-EU 5 16148315 16148315 single base substitution C A intron_variant BRCA-EU 5 16148489 16148489 single base substitution G A intron_variant BRCA-EU 5 16149166 16149166 single base substitution T A intron_variant BRCA-EU 5 16149298 16149298 single base substitution C A intron_variant BRCA-EU 5 16149514 16149514 single base substitution G A intron_variant BRCA-EU 5 16151466 16151466 single base substitution T G intron_variant BRCA-EU 5 16151478 16151478 single base substitution A G intron_variant BRCA-EU 5 16152360 16152360 single base substitution G A intron_variant BRCA-EU 5 16153080 16153080 single base substitution C A intron_variant BRCA-EU 5 16153334 16153334 single base substitution G C intron_variant BRCA-EU 5 16153827 16153827 single base substitution A C intron_variant BRCA-EU 5 16153909 16153909 single base substitution C T intron_variant BRCA-EU 5 16155183 16155183 single base substitution G A intron_variant BRCA-EU 5 16155245 16155245 single base substitution G C intron_variant BRCA-EU 5 16155533 16155533 single base substitution G T intron_variant BRCA-EU 5 16155758 16155758 insertion of <=200bp - AA intron_variant BRCA-EU 5 16157556 16157556 single base substitution A T intron_variant BRCA-EU 5 16159055 16159055 single base substitution T G intron_variant BRCA-EU 5 16159192 16159192 single base substitution A T intron_variant BRCA-EU 5 16160586 16160586 single base substitution T A intron_variant BRCA-EU 5 16162023 16162023 single base substitution C T intron_variant BRCA-EU 5 16162048 16162048 deletion of <=200bp A - intron_variant BRCA-EU 5 16162052 16162052 single base substitution A T intron_variant BRCA-EU 5 16162337 16162337 single base substitution G A intron_variant BRCA-EU 5 16163010 16163010 single base substitution G C intron_variant BRCA-EU 5 16165188 16165188 single base substitution T A intron_variant BRCA-EU 5 16168302 16168302 single base substitution T A intron_variant BRCA-EU 5 16170087 16170087 single base substitution C T intron_variant BRCA-EU 5 16170144 16170144 single base substitution G C intron_variant BRCA-EU 5 16170461 16170461 single base substitution G C intron_variant BRCA-EU 5 16170525 16170525 single base substitution A G intron_variant BRCA-EU 5 16170999 16170999 single base substitution A G intron_variant BRCA-EU 5 16171630 16171630 insertion of <=200bp - A intron_variant BRCA-EU 5 16171809 16171809 single base substitution A G intron_variant BRCA-EU 5 16172330 16172330 single base substitution C T intron_variant BRCA-EU 5 16173338 16173338 single base substitution G T intron_variant BRCA-EU 5 16173413 16173413 single base substitution C G intron_variant BRCA-EU 5 16174361 16174361 single base substitution T G intron_variant BRCA-EU 5 16175310 16175310 single base substitution T C intron_variant BRCA-EU 5 16175672 16175672 single base substitution G C intron_variant BRCA-EU 5 16176500 16176500 single base substitution C T intron_variant BRCA-EU 5 16177285 16177285 single base substitution A C intron_variant BRCA-EU 5 16178379 16178379 insertion of <=200bp - T intron_variant BRCA-EU 5 16178379 16178379 insertion of <=200bp - T upstream_gene_variant BRCA-EU 5 16178593 16178593 single base substitution T A intron_variant BRCA-EU 5 16178593 16178593 single base substitution T A upstream_gene_variant BRCA-EU 5 16179524 16179524 single base substitution G T intron_variant BRCA-EU 5 16179524 16179524 single base substitution G T missense_variant A54E 161C>A BRCA-EU 5 16179524 16179524 single base substitution G T upstream_gene_variant BRCA-EU 5 16180604 16180604 single base substitution G A intron_variant BRCA-EU 5 16180604 16180604 single base substitution G A upstream_gene_variant BRCA-EU 5 16181145 16181145 single base substitution A T upstream_gene_variant BRCA-EU 5 16182528 16182528 single base substitution T G upstream_gene_variant BRCA-EU 5 16182724 16182724 single base substitution A T upstream_gene_variant BRCA-EU 5 16182882 16182882 single base substitution C T upstream_gene_variant BRCA-EU 5 16182959 16182959 single base substitution A G upstream_gene_variant BRCA-EU 5 16183222 16183222 single base substitution C A upstream_gene_variant BRCA-EU 5 16183311 16183311 single base substitution G T upstream_gene_variant BRCA-EU 5 16183339 16183339 single base substitution G A upstream_gene_variant BRCA-EU 5 16183822 16183822 single base substitution C A upstream_gene_variant BRCA-EU 5 16184614 16184614 single base substitution T C upstream_gene_variant BRCA-EU 5 16184707 16184707 single base substitution A C upstream_gene_variant BRCA-EU 5 16184798 16184798 single base substitution G A upstream_gene_variant BRCA-FR 5 16062552 16062552 single base substitution T A downstream_gene_variant BRCA-FR 5 16062946 16062946 single base substitution C A downstream_gene_variant BRCA-FR 5 16068323 16068323 single base substitution A T intron_variant BRCA-FR 5 16077920 16077920 single base substitution G C intron_variant BRCA-FR 5 16085278 16085278 single base substitution G C intron_variant BRCA-FR 5 16085678 16085678 single base substitution C G intron_variant BRCA-FR 5 16092428 16092428 single base substitution A C intron_variant BRCA-FR 5 16092574 16092574 single base substitution G C intron_variant BRCA-FR 5 16093754 16093754 single base substitution G C intron_variant BRCA-FR 5 16099240 16099240 single base substitution G C intron_variant BRCA-FR 5 16100561 16100561 single base substitution G T intron_variant BRCA-FR 5 16105490 16105490 single base substitution G A intron_variant BRCA-FR 5 16106908 16106908 single base substitution C G intron_variant BRCA-FR 5 16107801 16107801 single base substitution G A intron_variant BRCA-FR 5 16113463 16113463 single base substitution C A intron_variant BRCA-FR 5 16118808 16118808 single base substitution G A intron_variant BRCA-FR 5 16123391 16123391 single base substitution C T intron_variant BRCA-FR 5 16124919 16124919 single base substitution T A intron_variant BRCA-FR 5 16125917 16125917 single base substitution A C intron_variant BRCA-FR 5 16128732 16128732 single base substitution G A intron_variant BRCA-FR 5 16128742 16128742 single base substitution C A intron_variant BRCA-FR 5 16131160 16131160 single base substitution T C intron_variant BRCA-FR 5 16139551 16139551 single base substitution C G intron_variant BRCA-FR 5 16144620 16144620 single base substitution G T intron_variant BRCA-FR 5 16145850 16145850 single base substitution G C intron_variant BRCA-FR 5 16149514 16149514 single base substitution G A intron_variant BRCA-FR 5 16173338 16173338 single base substitution G T intron_variant BRCA-FR 5 16173413 16173413 single base substitution C G intron_variant BRCA-FR 5 16174361 16174361 single base substitution T G intron_variant BRCA-FR 5 16177881 16177881 single base substitution C A exon_variant BRCA-FR 5 16177881 16177881 single base substitution C A missense_variant C19F 56G>T BRCA-FR 5 16177881 16177881 single base substitution C A missense_variant C216F 647G>T BRCA-FR 5 16178593 16178593 single base substitution T A intron_variant BRCA-FR 5 16178593 16178593 single base substitution T A upstream_gene_variant BRCA-FR 5 16183222 16183222 single base substitution C A upstream_gene_variant BRCA-FR 5 16183311 16183311 single base substitution G T upstream_gene_variant BRCA-FR 5 16183339 16183339 single base substitution G A upstream_gene_variant BRCA-FR 5 16183822 16183822 single base substitution C A upstream_gene_variant BRCA-UK 5 16065204 16065204 single base substitution A C downstream_gene_variant BRCA-UK 5 16067609 16067609 single base substitution C T 3_prime_UTR_variant BRCA-UK 5 16067609 16067609 single base substitution C T missense_variant E394K 1180G>A BRCA-UK 5 16101558 16101558 single base substitution C T intron_variant BRCA-UK 5 16101566 16101566 single base substitution A T intron_variant BRCA-UK 5 16107019 16107019 single base substitution C T intron_variant BRCA-UK 5 16108214 16108214 single base substitution C G intron_variant BRCA-UK 5 16121715 16121715 single base substitution A T intron_variant BRCA-UK 5 16132701 16132701 single base substitution G A intron_variant BRCA-UK 5 16133617 16133617 single base substitution C A intron_variant BRCA-UK 5 16146963 16146963 single base substitution C G intron_variant BRCA-UK 5 16148489 16148489 single base substitution G A intron_variant BRCA-UK 5 16155183 16155183 single base substitution G A intron_variant BRCA-UK 5 16159055 16159055 single base substitution T G intron_variant BRCA-UK 5 16175672 16175672 single base substitution G C intron_variant BRCA-UK 5 16182287 16182287 single base substitution G A upstream_gene_variant BRCA-US 5 16091158 16091158 single base substitution T G exon_variant BRCA-US 5 16091158 16091158 single base substitution T G intron_variant BRCA-US 5 16091158 16091158 single base substitution T G missense_variant K242N 726A>C BTCA-JP 5 16177951 16177951 single base substitution G A exon_variant BTCA-JP 5 16177951 16177951 single base substitution G A missense_variant R193W 577C>T BTCA-JP 5 16177951 16177951 single base substitution G A upstream_gene_variant BTCA-JP 5 16178003 16178003 single base substitution C G intron_variant BTCA-JP 5 16178003 16178003 single base substitution C G upstream_gene_variant CESC-US 5 16067780 16067780 single base substitution C G 3_prime_UTR_variant CESC-US 5 16067780 16067780 single base substitution C G missense_variant E337Q 1009G>C CLLE-ES 5 16063913 16063913 single base substitution A G downstream_gene_variant CLLE-ES 5 16068137 16068137 single base substitution G T intron_variant CLLE-ES 5 16070268 16070268 single base substitution C A intron_variant CLLE-ES 5 16079974 16079974 single base substitution A C intron_variant CLLE-ES 5 16088798 16088798 single base substitution A T downstream_gene_variant CLLE-ES 5 16088798 16088798 single base substitution A T intron_variant CLLE-ES 5 16091096 16091096 single base substitution A G exon_variant CLLE-ES 5 16091096 16091096 single base substitution A G intron_variant CLLE-ES 5 16091096 16091096 single base substitution A G missense_variant L263P 788T>C CLLE-ES 5 16107697 16107697 single base substitution G A intron_variant CLLE-ES 5 16112591 16112591 single base substitution T C intron_variant CLLE-ES 5 16116505 16116505 single base substitution A T intron_variant CLLE-ES 5 16117963 16117963 single base substitution G C intron_variant CLLE-ES 5 16156087 16156087 single base substitution T A intron_variant CLLE-ES 5 16156525 16156525 single base substitution T C intron_variant CLLE-ES 5 16162778 16162778 single base substitution G T intron_variant CLLE-ES 5 16181746 16181746 single base substitution G C upstream_gene_variant COCA-CN 5 16064296 16064296 single base substitution T A downstream_gene_variant COCA-CN 5 16067728 16067728 single base substitution C A 3_prime_UTR_variant COCA-CN 5 16067728 16067728 single base substitution C A missense_variant R354I 1061G>T COCA-CN 5 16067858 16067858 single base substitution G A missense_variant R311C 931C>T COCA-CN 5 16067858 16067858 single base substitution G A synonymous_variant S49S 147C>T COCA-CN 5 16083342 16083342 single base substitution G A intron_variant COCA-CN 5 16083973 16083973 single base substitution C T intron_variant COCA-CN 5 16091189 16091189 single base substitution C A intron_variant COCA-CN 5 16091189 16091189 single base substitution C A missense_variant W232L 695G>T COCA-CN 5 16091189 16091189 single base substitution C A splice_region_variant COCA-CN 5 16093413 16093413 single base substitution T G intron_variant COCA-CN 5 16119476 16119476 single base substitution A T intron_variant COCA-CN 5 16120572 16120572 single base substitution C T intron_variant COCA-CN 5 16125742 16125742 single base substitution G C intron_variant COCA-CN 5 16157952 16157952 single base substitution A C intron_variant COCA-CN 5 16162003 16162003 single base substitution G A intron_variant COCA-CN 5 16169446 16169446 single base substitution A G intron_variant COCA-CN 5 16170486 16170486 single base substitution A T intron_variant COCA-CN 5 16171682 16171682 single base substitution C T intron_variant COCA-CN 5 16179047 16179047 single base substitution G T intron_variant COCA-CN 5 16179047 16179047 single base substitution G T upstream_gene_variant EOPC-DE 5 16063139 16063139 single base substitution T C downstream_gene_variant EOPC-DE 5 16099894 16099894 single base substitution G A intron_variant EOPC-DE 5 16112369 16112369 single base substitution G A intron_variant EOPC-DE 5 16123211 16123211 single base substitution C T intron_variant EOPC-DE 5 16126809 16126809 single base substitution T G intron_variant EOPC-DE 5 16172716 16172716 single base substitution C T intron_variant EOPC-DE 5 16176036 16176036 single base substitution T C intron_variant ESAD-UK 5 16064284 16064284 single base substitution A G downstream_gene_variant ESAD-UK 5 16064286 16064286 single base substitution G A downstream_gene_variant ESAD-UK 5 16064295 16064295 insertion of <=200bp - T downstream_gene_variant ESAD-UK 5 16065111 16065111 single base substitution A G downstream_gene_variant ESAD-UK 5 16065364 16065364 single base substitution G A downstream_gene_variant ESAD-UK 5 16065685 16065685 single base substitution A C downstream_gene_variant ESAD-UK 5 16065731 16065731 single base substitution G A downstream_gene_variant ESAD-UK 5 16065747 16065747 single base substitution A T downstream_gene_variant ESAD-UK 5 16065923 16065923 single base substitution A T downstream_gene_variant ESAD-UK 5 16065941 16065941 single base substitution T A downstream_gene_variant ESAD-UK 5 16065945 16065945 single base substitution T G downstream_gene_variant ESAD-UK 5 16066815 16066815 single base substitution G A downstream_gene_variant ESAD-UK 5 16066934 16066934 single base substitution A G downstream_gene_variant ESAD-UK 5 16067141 16067141 single base substitution C A downstream_gene_variant ESAD-UK 5 16067478 16067478 single base substitution A C 3_prime_UTR_variant ESAD-UK 5 16067648 16067648 single base substitution T C 3_prime_UTR_variant ESAD-UK 5 16067648 16067648 single base substitution T C missense_variant R381G 1141A>G ESAD-UK 5 16067785 16067785 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 16067785 16067785 single base substitution C T missense_variant R335Q 1004G>A ESAD-UK 5 16068507 16068507 single base substitution T G intron_variant ESAD-UK 5 16069580 16069580 single base substitution T A intron_variant ESAD-UK 5 16069612 16069612 single base substitution A G intron_variant ESAD-UK 5 16069646 16069646 single base substitution A C intron_variant ESAD-UK 5 16069817 16069817 single base substitution A C intron_variant ESAD-UK 5 16069907 16069907 single base substitution T G intron_variant ESAD-UK 5 16069979 16069979 single base substitution A C intron_variant ESAD-UK 5 16070137 16070137 single base substitution A G intron_variant ESAD-UK 5 16070245 16070245 single base substitution G A intron_variant ESAD-UK 5 16070364 16070364 single base substitution A C intron_variant ESAD-UK 5 16070440 16070440 single base substitution C T intron_variant ESAD-UK 5 16070882 16070882 single base substitution A C intron_variant ESAD-UK 5 16071155 16071155 single base substitution G A intron_variant ESAD-UK 5 16071463 16071463 single base substitution T G intron_variant ESAD-UK 5 16072020 16072020 single base substitution T C intron_variant ESAD-UK 5 16072667 16072667 single base substitution A C intron_variant ESAD-UK 5 16072734 16072734 single base substitution G A intron_variant ESAD-UK 5 16072803 16072803 single base substitution T C intron_variant ESAD-UK 5 16072823 16072823 single base substitution T G intron_variant ESAD-UK 5 16072993 16072993 single base substitution C A intron_variant ESAD-UK 5 16073162 16073162 single base substitution T G intron_variant ESAD-UK 5 16073338 16073338 single base substitution T G intron_variant ESAD-UK 5 16073508 16073508 single base substitution T G intron_variant ESAD-UK 5 16074205 16074205 single base substitution G C intron_variant ESAD-UK 5 16074584 16074584 single base substitution G A intron_variant ESAD-UK 5 16075062 16075062 single base substitution C T intron_variant ESAD-UK 5 16075386 16075386 single base substitution A C intron_variant ESAD-UK 5 16075751 16075751 single base substitution A G intron_variant ESAD-UK 5 16075849 16075849 single base substitution G T intron_variant ESAD-UK 5 16075922 16075922 single base substitution T C intron_variant ESAD-UK 5 16075922 16075922 single base substitution T G intron_variant ESAD-UK 5 16076205 16076205 single base substitution C T intron_variant ESAD-UK 5 16076395 16076395 single base substitution T G intron_variant ESAD-UK 5 16076405 16076405 deletion of <=200bp T - intron_variant ESAD-UK 5 16076552 16076552 single base substitution T A intron_variant ESAD-UK 5 16077416 16077416 single base substitution A C intron_variant ESAD-UK 5 16077580 16077580 single base substitution A C intron_variant ESAD-UK 5 16077607 16077607 single base substitution A C intron_variant ESAD-UK 5 16078000 16078000 single base substitution A G intron_variant ESAD-UK 5 16078539 16078539 single base substitution G A intron_variant ESAD-UK 5 16079117 16079117 single base substitution A G intron_variant ESAD-UK 5 16079177 16079177 deletion of <=200bp A - intron_variant ESAD-UK 5 16079177 16079177 single base substitution A G intron_variant ESAD-UK 5 16079567 16079567 single base substitution T G intron_variant ESAD-UK 5 16079648 16079648 single base substitution T G intron_variant ESAD-UK 5 16079965 16079965 single base substitution T A intron_variant ESAD-UK 5 16079985 16079985 single base substitution T C intron_variant ESAD-UK 5 16080221 16080221 single base substitution A G intron_variant ESAD-UK 5 16080318 16080318 single base substitution A C intron_variant ESAD-UK 5 16080514 16080514 single base substitution C A intron_variant ESAD-UK 5 16080836 16080836 single base substitution C G intron_variant ESAD-UK 5 16081022 16081022 single base substitution A C intron_variant ESAD-UK 5 16081969 16081969 single base substitution A G intron_variant ESAD-UK 5 16082456 16082456 single base substitution T C intron_variant ESAD-UK 5 16082520 16082520 single base substitution C A intron_variant ESAD-UK 5 16082588 16082588 single base substitution T C intron_variant ESAD-UK 5 16082953 16082953 single base substitution G T intron_variant ESAD-UK 5 16083305 16083305 single base substitution C A intron_variant ESAD-UK 5 16083639 16083639 single base substitution A C intron_variant ESAD-UK 5 16083761 16083761 single base substitution A G intron_variant ESAD-UK 5 16083849 16083849 single base substitution T C intron_variant ESAD-UK 5 16084033 16084033 single base substitution C T intron_variant ESAD-UK 5 16084137 16084137 single base substitution G A intron_variant ESAD-UK 5 16084181 16084181 single base substitution A T intron_variant ESAD-UK 5 16084282 16084282 single base substitution A T intron_variant ESAD-UK 5 16084746 16084746 single base substitution T A intron_variant ESAD-UK 5 16084762 16084762 single base substitution A C intron_variant ESAD-UK 5 16084848 16084848 single base substitution T G intron_variant ESAD-UK 5 16084891 16084891 single base substitution T G intron_variant ESAD-UK 5 16084986 16084986 single base substitution G T intron_variant ESAD-UK 5 16085198 16085198 single base substitution A T intron_variant ESAD-UK 5 16085829 16085829 single base substitution A C intron_variant ESAD-UK 5 16086474 16086474 deletion of <=200bp T - downstream_gene_variant ESAD-UK 5 16086474 16086474 deletion of <=200bp T - intron_variant ESAD-UK 5 16086511 16086511 single base substitution A G downstream_gene_variant ESAD-UK 5 16086511 16086511 single base substitution A G intron_variant ESAD-UK 5 16086666 16086666 single base substitution T G downstream_gene_variant ESAD-UK 5 16086666 16086666 single base substitution T G intron_variant ESAD-UK 5 16087279 16087279 single base substitution G T downstream_gene_variant ESAD-UK 5 16087279 16087279 single base substitution G T intron_variant ESAD-UK 5 16087351 16087351 single base substitution T C downstream_gene_variant ESAD-UK 5 16087351 16087351 single base substitution T C intron_variant ESAD-UK 5 16087750 16087750 single base substitution T G downstream_gene_variant ESAD-UK 5 16087750 16087750 single base substitution T G intron_variant ESAD-UK 5 16088117 16088117 single base substitution A C downstream_gene_variant ESAD-UK 5 16088117 16088117 single base substitution A C intron_variant ESAD-UK 5 16088524 16088524 single base substitution G C downstream_gene_variant ESAD-UK 5 16088524 16088524 single base substitution G C intron_variant ESAD-UK 5 16088592 16088592 single base substitution C T downstream_gene_variant ESAD-UK 5 16088592 16088592 single base substitution C T intron_variant ESAD-UK 5 16088769 16088769 single base substitution A G downstream_gene_variant ESAD-UK 5 16088769 16088769 single base substitution A G intron_variant ESAD-UK 5 16089277 16089277 single base substitution A T downstream_gene_variant ESAD-UK 5 16089277 16089277 single base substitution A T intron_variant ESAD-UK 5 16089833 16089833 single base substitution T G downstream_gene_variant ESAD-UK 5 16089833 16089833 single base substitution T G intron_variant ESAD-UK 5 16089993 16089993 single base substitution A C downstream_gene_variant ESAD-UK 5 16089993 16089993 single base substitution A C intron_variant ESAD-UK 5 16090435 16090435 single base substitution G T downstream_gene_variant ESAD-UK 5 16090435 16090435 single base substitution G T intron_variant ESAD-UK 5 16090833 16090833 single base substitution T C downstream_gene_variant ESAD-UK 5 16090833 16090833 single base substitution T C intron_variant ESAD-UK 5 16091536 16091536 single base substitution A G intron_variant ESAD-UK 5 16091611 16091611 single base substitution T A intron_variant ESAD-UK 5 16091756 16091756 single base substitution T G intron_variant ESAD-UK 5 16092165 16092165 single base substitution A T intron_variant ESAD-UK 5 16092655 16092655 single base substitution G A intron_variant ESAD-UK 5 16094103 16094103 single base substitution G A intron_variant ESAD-UK 5 16094860 16094860 single base substitution C T intron_variant ESAD-UK 5 16095212 16095212 single base substitution A G intron_variant ESAD-UK 5 16095411 16095411 single base substitution T G intron_variant ESAD-UK 5 16095499 16095499 single base substitution T G intron_variant ESAD-UK 5 16095515 16095515 single base substitution G A intron_variant ESAD-UK 5 16095916 16095916 single base substitution G A intron_variant ESAD-UK 5 16096337 16096337 single base substitution A T intron_variant ESAD-UK 5 16096516 16096516 single base substitution A T intron_variant ESAD-UK 5 16097413 16097413 single base substitution C T intron_variant ESAD-UK 5 16097824 16097824 insertion of <=200bp - AACA intron_variant ESAD-UK 5 16098071 16098071 single base substitution T C intron_variant ESAD-UK 5 16099278 16099278 single base substitution T G intron_variant ESAD-UK 5 16099279 16099279 single base substitution T G intron_variant ESAD-UK 5 16099301 16099301 single base substitution T G intron_variant ESAD-UK 5 16099856 16099856 single base substitution T A intron_variant ESAD-UK 5 16099973 16099973 single base substitution T C intron_variant ESAD-UK 5 16099983 16099983 single base substitution A T intron_variant ESAD-UK 5 16100057 16100057 single base substitution G C intron_variant ESAD-UK 5 16100200 16100200 single base substitution T C intron_variant ESAD-UK 5 16100455 16100455 single base substitution A G intron_variant ESAD-UK 5 16100526 16100526 single base substitution A G intron_variant ESAD-UK 5 16100616 16100616 single base substitution A G intron_variant ESAD-UK 5 16100739 16100739 single base substitution A G intron_variant ESAD-UK 5 16100794 16100794 single base substitution G A intron_variant ESAD-UK 5 16101021 16101021 single base substitution A G intron_variant ESAD-UK 5 16101040 16101040 single base substitution T G intron_variant ESAD-UK 5 16101339 16101339 single base substitution A C intron_variant ESAD-UK 5 16102050 16102050 single base substitution T G intron_variant ESAD-UK 5 16102073 16102073 single base substitution C A intron_variant ESAD-UK 5 16102330 16102330 single base substitution T G intron_variant ESAD-UK 5 16102388 16102388 single base substitution A C intron_variant ESAD-UK 5 16102893 16102893 single base substitution A C intron_variant ESAD-UK 5 16103505 16103505 single base substitution A C intron_variant ESAD-UK 5 16103812 16103812 single base substitution A C intron_variant ESAD-UK 5 16103895 16103895 single base substitution A G intron_variant ESAD-UK 5 16104986 16104986 single base substitution G A intron_variant ESAD-UK 5 16105194 16105194 single base substitution A C intron_variant ESAD-UK 5 16105608 16105608 single base substitution T G intron_variant ESAD-UK 5 16105893 16105893 single base substitution T G intron_variant ESAD-UK 5 16106011 16106011 single base substitution T G intron_variant ESAD-UK 5 16106053 16106053 single base substitution T C intron_variant ESAD-UK 5 16106432 16106432 single base substitution T G intron_variant ESAD-UK 5 16106471 16106471 insertion of <=200bp - G intron_variant ESAD-UK 5 16106696 16106696 single base substitution C A intron_variant ESAD-UK 5 16106907 16106907 single base substitution A C intron_variant ESAD-UK 5 16107555 16107555 single base substitution G T intron_variant ESAD-UK 5 16107696 16107696 single base substitution C A intron_variant ESAD-UK 5 16107736 16107736 single base substitution T C intron_variant ESAD-UK 5 16107765 16107765 deletion of <=200bp T - intron_variant ESAD-UK 5 16108074 16108074 single base substitution A G intron_variant ESAD-UK 5 16108094 16108094 single base substitution A G intron_variant ESAD-UK 5 16108391 16108391 single base substitution A C intron_variant ESAD-UK 5 16108518 16108518 single base substitution C T intron_variant ESAD-UK 5 16108627 16108627 single base substitution T G intron_variant ESAD-UK 5 16109199 16109199 single base substitution G T intron_variant ESAD-UK 5 16110112 16110112 single base substitution T G intron_variant ESAD-UK 5 16110252 16110252 deletion of <=200bp G - intron_variant ESAD-UK 5 16110540 16110540 single base substitution T G intron_variant ESAD-UK 5 16110664 16110664 single base substitution T A intron_variant ESAD-UK 5 16111261 16111261 single base substitution A T intron_variant ESAD-UK 5 16111745 16111745 single base substitution A G intron_variant ESAD-UK 5 16111899 16111899 single base substitution A C intron_variant ESAD-UK 5 16112368 16112368 single base substitution C T intron_variant ESAD-UK 5 16112477 16112477 single base substitution C T intron_variant ESAD-UK 5 16112538 16112538 single base substitution A G intron_variant ESAD-UK 5 16112813 16112813 single base substitution G T intron_variant ESAD-UK 5 16112912 16112912 single base substitution A T intron_variant ESAD-UK 5 16113066 16113066 single base substitution A G intron_variant ESAD-UK 5 16113943 16113943 single base substitution A C intron_variant ESAD-UK 5 16114037 16114037 single base substitution T A intron_variant ESAD-UK 5 16114640 16114640 single base substitution G A intron_variant ESAD-UK 5 16114822 16114822 single base substitution C T intron_variant ESAD-UK 5 16115127 16115127 single base substitution C T intron_variant ESAD-UK 5 16115427 16115427 single base substitution G A intron_variant ESAD-UK 5 16115471 16115471 single base substitution C T intron_variant ESAD-UK 5 16115725 16115725 single base substitution T C intron_variant ESAD-UK 5 16116733 16116733 single base substitution T G intron_variant ESAD-UK 5 16116775 16116775 single base substitution T C intron_variant ESAD-UK 5 16117490 16117490 single base substitution G A intron_variant ESAD-UK 5 16117753 16117753 single base substitution C T intron_variant ESAD-UK 5 16117802 16117802 single base substitution A C intron_variant ESAD-UK 5 16117909 16117909 single base substitution T G intron_variant ESAD-UK 5 16118050 16118050 single base substitution A C intron_variant ESAD-UK 5 16118400 16118400 single base substitution C A intron_variant ESAD-UK 5 16118421 16118421 single base substitution A C intron_variant ESAD-UK 5 16118520 16118520 deletion of <=200bp G - intron_variant ESAD-UK 5 16118537 16118537 single base substitution A C intron_variant ESAD-UK 5 16118680 16118680 single base substitution A G intron_variant ESAD-UK 5 16118687 16118687 single base substitution G A intron_variant ESAD-UK 5 16118744 16118744 single base substitution G A intron_variant ESAD-UK 5 16119325 16119325 single base substitution A T intron_variant ESAD-UK 5 16119329 16119329 single base substitution A C intron_variant ESAD-UK 5 16119476 16119476 single base substitution A T intron_variant ESAD-UK 5 16119477 16119477 single base substitution A T intron_variant ESAD-UK 5 16119875 16119875 single base substitution C G intron_variant ESAD-UK 5 16119988 16119988 single base substitution A C intron_variant ESAD-UK 5 16120364 16120364 single base substitution G T intron_variant ESAD-UK 5 16120394 16120394 single base substitution A G intron_variant ESAD-UK 5 16120650 16120650 single base substitution G C intron_variant ESAD-UK 5 16120874 16120874 single base substitution A G intron_variant ESAD-UK 5 16120879 16120879 single base substitution G T intron_variant ESAD-UK 5 16120939 16120939 single base substitution T A intron_variant ESAD-UK 5 16121056 16121056 single base substitution A G intron_variant ESAD-UK 5 16121769 16121769 single base substitution A C intron_variant ESAD-UK 5 16121942 16121942 single base substitution A C intron_variant ESAD-UK 5 16122153 16122153 single base substitution C T intron_variant ESAD-UK 5 16122253 16122253 single base substitution T G intron_variant ESAD-UK 5 16122282 16122282 single base substitution T C intron_variant ESAD-UK 5 16122789 16122789 single base substitution G A intron_variant ESAD-UK 5 16123344 16123344 single base substitution C A intron_variant ESAD-UK 5 16123587 16123587 single base substitution A G intron_variant ESAD-UK 5 16123611 16123611 single base substitution T G intron_variant ESAD-UK 5 16124597 16124597 single base substitution A C intron_variant ESAD-UK 5 16124765 16124765 single base substitution G C intron_variant ESAD-UK 5 16124845 16124845 single base substitution G A intron_variant ESAD-UK 5 16125073 16125073 single base substitution T G intron_variant ESAD-UK 5 16125393 16125393 single base substitution C A intron_variant ESAD-UK 5 16125886 16125886 single base substitution A G intron_variant ESAD-UK 5 16125970 16125970 single base substitution A C intron_variant ESAD-UK 5 16125999 16125999 single base substitution A C intron_variant ESAD-UK 5 16126302 16126302 single base substitution A T intron_variant ESAD-UK 5 16126432 16126432 single base substitution A G intron_variant ESAD-UK 5 16126486 16126486 single base substitution T G intron_variant ESAD-UK 5 16127569 16127569 single base substitution A C intron_variant ESAD-UK 5 16128004 16128004 single base substitution A C intron_variant ESAD-UK 5 16128092 16128092 single base substitution T C intron_variant ESAD-UK 5 16128586 16128586 single base substitution A C intron_variant ESAD-UK 5 16128586 16128586 single base substitution A T intron_variant ESAD-UK 5 16128705 16128705 single base substitution T G intron_variant ESAD-UK 5 16128755 16128755 single base substitution A C intron_variant ESAD-UK 5 16129349 16129349 single base substitution C A intron_variant ESAD-UK 5 16129594 16129594 single base substitution T G intron_variant ESAD-UK 5 16129749 16129749 single base substitution T G intron_variant ESAD-UK 5 16129807 16129807 single base substitution A T intron_variant ESAD-UK 5 16129911 16129911 single base substitution T G intron_variant ESAD-UK 5 16129988 16129988 single base substitution C T intron_variant ESAD-UK 5 16129990 16129990 single base substitution A C intron_variant ESAD-UK 5 16130125 16130125 single base substitution A C intron_variant ESAD-UK 5 16130151 16130151 single base substitution A C intron_variant ESAD-UK 5 16130474 16130474 single base substitution T A intron_variant ESAD-UK 5 16131213 16131213 single base substitution A C intron_variant ESAD-UK 5 16131480 16131480 single base substitution G A intron_variant ESAD-UK 5 16131859 16131859 single base substitution A T intron_variant ESAD-UK 5 16131870 16131870 single base substitution A C intron_variant ESAD-UK 5 16131954 16131954 single base substitution G T intron_variant ESAD-UK 5 16132165 16132165 single base substitution C A intron_variant ESAD-UK 5 16132501 16132501 single base substitution A C intron_variant ESAD-UK 5 16132823 16132823 single base substitution T G intron_variant ESAD-UK 5 16133219 16133219 single base substitution A T intron_variant ESAD-UK 5 16133297 16133297 single base substitution G T intron_variant ESAD-UK 5 16133618 16133618 single base substitution T C intron_variant ESAD-UK 5 16134260 16134260 single base substitution A C intron_variant ESAD-UK 5 16134877 16134877 single base substitution A G intron_variant ESAD-UK 5 16134879 16134879 single base substitution A C intron_variant ESAD-UK 5 16135651 16135651 single base substitution G T intron_variant ESAD-UK 5 16135962 16135962 single base substitution G C intron_variant ESAD-UK 5 16136567 16136567 single base substitution C T intron_variant ESAD-UK 5 16137153 16137153 single base substitution A C intron_variant ESAD-UK 5 16137199 16137199 single base substitution T G intron_variant ESAD-UK 5 16137284 16137284 single base substitution T G intron_variant ESAD-UK 5 16137374 16137374 single base substitution G T intron_variant ESAD-UK 5 16137478 16137478 single base substitution T C intron_variant ESAD-UK 5 16137945 16137945 single base substitution C G intron_variant ESAD-UK 5 16138081 16138081 single base substitution T G intron_variant ESAD-UK 5 16138097 16138097 single base substitution A C intron_variant ESAD-UK 5 16138176 16138176 single base substitution A C intron_variant ESAD-UK 5 16138476 16138476 single base substitution C T intron_variant ESAD-UK 5 16138934 16138934 single base substitution A G intron_variant ESAD-UK 5 16138957 16138957 single base substitution C A intron_variant ESAD-UK 5 16138976 16138976 single base substitution A G intron_variant ESAD-UK 5 16139019 16139019 single base substitution G T intron_variant ESAD-UK 5 16139100 16139100 single base substitution G C intron_variant ESAD-UK 5 16139369 16139369 single base substitution A C intron_variant ESAD-UK 5 16139414 16139414 single base substitution G A intron_variant ESAD-UK 5 16140363 16140363 single base substitution A C intron_variant ESAD-UK 5 16140514 16140514 single base substitution C T intron_variant ESAD-UK 5 16140524 16140524 single base substitution G T intron_variant ESAD-UK 5 16140646 16140646 single base substitution G T intron_variant ESAD-UK 5 16140822 16140822 single base substitution T C intron_variant ESAD-UK 5 16141085 16141085 single base substitution G A intron_variant ESAD-UK 5 16143283 16143283 single base substitution T G intron_variant ESAD-UK 5 16144068 16144068 single base substitution C T intron_variant ESAD-UK 5 16144607 16144607 single base substitution A C intron_variant ESAD-UK 5 16145136 16145136 single base substitution T G intron_variant ESAD-UK 5 16145197 16145197 single base substitution C T intron_variant ESAD-UK 5 16145568 16145568 single base substitution A C intron_variant ESAD-UK 5 16145779 16145779 single base substitution G A intron_variant ESAD-UK 5 16146409 16146409 single base substitution A C intron_variant ESAD-UK 5 16147989 16147989 single base substitution C A intron_variant ESAD-UK 5 16148337 16148337 single base substitution A C intron_variant ESAD-UK 5 16148367 16148367 deletion of <=200bp A - intron_variant ESAD-UK 5 16148513 16148513 single base substitution G C intron_variant ESAD-UK 5 16148718 16148718 single base substitution G C intron_variant ESAD-UK 5 16149078 16149078 single base substitution T G intron_variant ESAD-UK 5 16149855 16149855 single base substitution A C intron_variant ESAD-UK 5 16149975 16149975 single base substitution A C intron_variant ESAD-UK 5 16150399 16150399 single base substitution G A intron_variant ESAD-UK 5 16150472 16150472 single base substitution A G intron_variant ESAD-UK 5 16150568 16150568 single base substitution A C intron_variant ESAD-UK 5 16150922 16150922 single base substitution A C intron_variant ESAD-UK 5 16150941 16150941 single base substitution T C intron_variant ESAD-UK 5 16151310 16151310 single base substitution A C intron_variant ESAD-UK 5 16151521 16151521 single base substitution A C intron_variant ESAD-UK 5 16152526 16152526 single base substitution C G intron_variant ESAD-UK 5 16153214 16153214 single base substitution G A intron_variant ESAD-UK 5 16153378 16153378 single base substitution A T intron_variant ESAD-UK 5 16153419 16153419 single base substitution G A intron_variant ESAD-UK 5 16153605 16153605 single base substitution A C intron_variant ESAD-UK 5 16154588 16154588 single base substitution T C intron_variant ESAD-UK 5 16154714 16154714 deletion of <=200bp G - intron_variant ESAD-UK 5 16155116 16155116 single base substitution C T intron_variant ESAD-UK 5 16155919 16155919 single base substitution G A intron_variant ESAD-UK 5 16157159 16157159 single base substitution T C intron_variant ESAD-UK 5 16158234 16158234 single base substitution C T intron_variant ESAD-UK 5 16159249 16159249 single base substitution A C intron_variant ESAD-UK 5 16159310 16159310 single base substitution T G intron_variant ESAD-UK 5 16159574 16159574 single base substitution A C intron_variant ESAD-UK 5 16159976 16159976 single base substitution G T intron_variant ESAD-UK 5 16160045 16160045 single base substitution A C intron_variant ESAD-UK 5 16160526 16160526 single base substitution T C intron_variant ESAD-UK 5 16161653 16161653 single base substitution A C intron_variant ESAD-UK 5 16161727 16161727 deletion of <=200bp A - intron_variant ESAD-UK 5 16161884 16161884 single base substitution C A intron_variant ESAD-UK 5 16161886 16161886 single base substitution A T intron_variant ESAD-UK 5 16162141 16162141 single base substitution A G intron_variant ESAD-UK 5 16162817 16162817 single base substitution A C intron_variant ESAD-UK 5 16163218 16163218 single base substitution C T intron_variant ESAD-UK 5 16163541 16163541 deletion of <=200bp G - intron_variant ESAD-UK 5 16163648 16163648 single base substitution C A intron_variant ESAD-UK 5 16163761 16163761 single base substitution A C intron_variant ESAD-UK 5 16163981 16163981 single base substitution G C intron_variant ESAD-UK 5 16164901 16164901 single base substitution C T intron_variant ESAD-UK 5 16164994 16164994 single base substitution T C intron_variant ESAD-UK 5 16167927 16167927 single base substitution A G intron_variant ESAD-UK 5 16168414 16168414 single base substitution A C intron_variant ESAD-UK 5 16168745 16168745 single base substitution T G intron_variant ESAD-UK 5 16168834 16168834 single base substitution G C intron_variant ESAD-UK 5 16169125 16169125 single base substitution A C intron_variant ESAD-UK 5 16169618 16169618 single base substitution A C intron_variant ESAD-UK 5 16170018 16170018 single base substitution A G intron_variant ESAD-UK 5 16170175 16170175 single base substitution T C intron_variant ESAD-UK 5 16170673 16170673 single base substitution G C intron_variant ESAD-UK 5 16171636 16171636 single base substitution A C intron_variant ESAD-UK 5 16171794 16171794 single base substitution A C intron_variant ESAD-UK 5 16172548 16172548 single base substitution G A intron_variant ESAD-UK 5 16172668 16172668 single base substitution T G intron_variant ESAD-UK 5 16172892 16172892 single base substitution C G intron_variant ESAD-UK 5 16173663 16173663 single base substitution A C intron_variant ESAD-UK 5 16173978 16173978 single base substitution A C intron_variant ESAD-UK 5 16174203 16174203 single base substitution G A intron_variant ESAD-UK 5 16174421 16174421 single base substitution T G intron_variant ESAD-UK 5 16175088 16175088 single base substitution T G intron_variant ESAD-UK 5 16175186 16175186 single base substitution T C intron_variant ESAD-UK 5 16175489 16175489 single base substitution A G intron_variant ESAD-UK 5 16175914 16175914 single base substitution T G intron_variant ESAD-UK 5 16177102 16177102 single base substitution T G intron_variant ESAD-UK 5 16177133 16177133 single base substitution T G intron_variant ESAD-UK 5 16177141 16177141 single base substitution T A intron_variant ESAD-UK 5 16177201 16177201 single base substitution A C intron_variant ESAD-UK 5 16177201 16177201 single base substitution A G intron_variant ESAD-UK 5 16177461 16177461 single base substitution G T intron_variant ESAD-UK 5 16177740 16177740 single base substitution A C intron_variant ESAD-UK 5 16178379 16178379 deletion of <=200bp T - intron_variant ESAD-UK 5 16178379 16178379 deletion of <=200bp T - upstream_gene_variant ESAD-UK 5 16179332 16179332 single base substitution C A intron_variant ESAD-UK 5 16179332 16179332 single base substitution C A missense_variant G118V 353G>T ESAD-UK 5 16179332 16179332 single base substitution C A upstream_gene_variant ESAD-UK 5 16181029 16181029 single base substitution G A upstream_gene_variant ESAD-UK 5 16181147 16181147 single base substitution T G upstream_gene_variant ESAD-UK 5 16181157 16181157 single base substitution A C upstream_gene_variant ESAD-UK 5 16181208 16181208 single base substitution C T upstream_gene_variant ESAD-UK 5 16181389 16181389 single base substitution G A upstream_gene_variant ESAD-UK 5 16181670 16181670 single base substitution G T upstream_gene_variant ESAD-UK 5 16181689 16181689 single base substitution T G upstream_gene_variant ESAD-UK 5 16181936 16181936 single base substitution C T upstream_gene_variant ESAD-UK 5 16182296 16182296 single base substitution T G upstream_gene_variant ESAD-UK 5 16182613 16182613 single base substitution C T upstream_gene_variant ESAD-UK 5 16183014 16183014 single base substitution A C upstream_gene_variant ESAD-UK 5 16183672 16183672 single base substitution A G upstream_gene_variant ESAD-UK 5 16183684 16183684 single base substitution T G upstream_gene_variant ESAD-UK 5 16183692 16183692 single base substitution A C upstream_gene_variant ESAD-UK 5 16183892 16183892 single base substitution A T upstream_gene_variant ESAD-UK 5 16184384 16184384 single base substitution A C upstream_gene_variant ESAD-UK 5 16184824 16184824 single base substitution C A upstream_gene_variant ESAD-UK 5 16185846 16185846 single base substitution G A upstream_gene_variant LAML-KR 5 16065257 16065257 single base substitution G T downstream_gene_variant LAML-KR 5 16119130 16119130 single base substitution T C intron_variant LGG-US 5 16067657 16067657 single base substitution T C 3_prime_UTR_variant LGG-US 5 16067657 16067657 single base substitution T C missense_variant N378D 1132A>G LICA-CN 5 16177991 16177991 single base substitution C A splice_acceptor_variant LICA-CN 5 16177991 16177991 single base substitution C A upstream_gene_variant LICA-FR 5 16065633 16065633 single base substitution A T downstream_gene_variant LICA-FR 5 16066624 16066624 single base substitution C T downstream_gene_variant LICA-FR 5 16067780 16067780 single base substitution C G 3_prime_UTR_variant LICA-FR 5 16067780 16067780 single base substitution C G missense_variant E337Q 1009G>C LICA-FR 5 16078094 16078094 single base substitution A G intron_variant LICA-FR 5 16079510 16079510 single base substitution G A intron_variant LICA-FR 5 16080458 16080458 single base substitution C T intron_variant LICA-FR 5 16087600 16087600 single base substitution A T downstream_gene_variant LICA-FR 5 16087600 16087600 single base substitution A T intron_variant LICA-FR 5 16088054 16088054 single base substitution A T downstream_gene_variant LICA-FR 5 16088054 16088054 single base substitution A T intron_variant LICA-FR 5 16088715 16088715 single base substitution T C downstream_gene_variant LICA-FR 5 16088715 16088715 single base substitution T C intron_variant LICA-FR 5 16095100 16095100 single base substitution T C intron_variant LICA-FR 5 16095925 16095925 single base substitution G T intron_variant LICA-FR 5 16115117 16115117 single base substitution T C intron_variant LICA-FR 5 16123774 16123774 single base substitution C G intron_variant LICA-FR 5 16126507 16126507 single base substitution A G intron_variant LICA-FR 5 16128165 16128165 single base substitution A T intron_variant LICA-FR 5 16135111 16135111 single base substitution A T intron_variant LICA-FR 5 16138949 16138949 deletion of <=200bp G - intron_variant LICA-FR 5 16146918 16146918 single base substitution A T intron_variant LICA-FR 5 16150995 16150995 single base substitution T G intron_variant LICA-FR 5 16152344 16152344 single base substitution C T intron_variant LICA-FR 5 16158184 16158184 single base substitution A G intron_variant LICA-FR 5 16167379 16167379 single base substitution A G intron_variant LICA-FR 5 16169244 16169244 single base substitution G A intron_variant LICA-FR 5 16175732 16175732 single base substitution C A intron_variant LICA-FR 5 16179186 16179186 single base substitution G C intron_variant LICA-FR 5 16179186 16179186 single base substitution G C missense_variant Q167E 499C>G LICA-FR 5 16179186 16179186 single base substitution G C upstream_gene_variant LICA-FR 5 16179250 16179250 single base substitution G A intron_variant LICA-FR 5 16179250 16179250 single base substitution G A synonymous_variant C145C 435C>T LICA-FR 5 16179250 16179250 single base substitution G A upstream_gene_variant LICA-FR 5 16182355 16182355 single base substitution T A upstream_gene_variant LIHC-US 5 16067841 16067841 single base substitution A C 3_prime_UTR_variant LIHC-US 5 16067841 16067841 single base substitution A C missense_variant N316K 948T>G LINC-JP 5 16068197 16068197 single base substitution T G intron_variant LINC-JP 5 16068378 16068378 single base substitution C T intron_variant LINC-JP 5 16091044 16091044 deletion of <=200bp A - exon_variant LINC-JP 5 16091044 16091044 deletion of <=200bp A - frameshift_variant F280 LINC-JP 5 16091044 16091044 deletion of <=200bp A - intron_variant LINC-JP 5 16091048 16091048 single base substitution A T exon_variant LINC-JP 5 16091048 16091048 single base substitution A T intron_variant LINC-JP 5 16091048 16091048 single base substitution A T missense_variant L279H 836T>A LINC-JP 5 16094026 16094026 single base substitution C G intron_variant LINC-JP 5 16101182 16101182 deletion of <=200bp A - intron_variant LINC-JP 5 16101381 16101381 single base substitution A T intron_variant LINC-JP 5 16107011 16107011 single base substitution C T intron_variant LINC-JP 5 16108604 16108604 single base substitution T C intron_variant LINC-JP 5 16115896 16115896 single base substitution C A intron_variant LINC-JP 5 16123126 16123126 single base substitution G T intron_variant LINC-JP 5 16127532 16127532 single base substitution C G intron_variant LINC-JP 5 16135223 16135223 single base substitution A G intron_variant LINC-JP 5 16139776 16139776 single base substitution T C intron_variant LINC-JP 5 16140031 16140031 single base substitution G C intron_variant LINC-JP 5 16145925 16145925 single base substitution G A intron_variant LINC-JP 5 16147466 16147466 single base substitution C A intron_variant LINC-JP 5 16158793 16158793 single base substitution A G intron_variant LINC-JP 5 16159212 16159212 single base substitution T A intron_variant LINC-JP 5 16164320 16164320 single base substitution T A intron_variant LINC-JP 5 16166865 16166865 single base substitution C G intron_variant LINC-JP 5 16172637 16172637 single base substitution C T intron_variant LINC-JP 5 16174888 16174888 single base substitution G A intron_variant LINC-JP 5 16175051 16175051 single base substitution T C intron_variant LINC-JP 5 16176772 16176772 single base substitution T C intron_variant LINC-JP 5 16179823 16179823 single base substitution C A 5_prime_UTR_variant LINC-JP 5 16179823 16179823 single base substitution C A intron_variant LINC-JP 5 16179823 16179823 single base substitution C A upstream_gene_variant LINC-JP 5 16185229 16185229 single base substitution C G upstream_gene_variant LIRI-JP 5 16062644 16062644 single base substitution A G downstream_gene_variant LIRI-JP 5 16062784 16062784 single base substitution C T downstream_gene_variant LIRI-JP 5 16064256 16064256 single base substitution G C downstream_gene_variant LIRI-JP 5 16064319 16064319 single base substitution A G downstream_gene_variant LIRI-JP 5 16064405 16064405 single base substitution A G downstream_gene_variant LIRI-JP 5 16064911 16064911 single base substitution A C downstream_gene_variant LIRI-JP 5 16065220 16065220 single base substitution T C downstream_gene_variant LIRI-JP 5 16065324 16065324 single base substitution T C downstream_gene_variant LIRI-JP 5 16065970 16065970 single base substitution T A downstream_gene_variant LIRI-JP 5 16066719 16066719 single base substitution A G downstream_gene_variant LIRI-JP 5 16066800 16066800 single base substitution G A downstream_gene_variant LIRI-JP 5 16067754 16067754 single base substitution C A 3_prime_UTR_variant LIRI-JP 5 16067754 16067754 single base substitution C A missense_variant W345C 1035G>T LIRI-JP 5 16069886 16069886 single base substitution A G intron_variant LIRI-JP 5 16071090 16071090 single base substitution G A intron_variant LIRI-JP 5 16071664 16071664 single base substitution T A intron_variant LIRI-JP 5 16071940 16071940 single base substitution A G intron_variant LIRI-JP 5 16072330 16072330 single base substitution A G intron_variant LIRI-JP 5 16073943 16073943 single base substitution A G intron_variant LIRI-JP 5 16074753 16074753 single base substitution C T intron_variant LIRI-JP 5 16075436 16075436 single base substitution C T intron_variant LIRI-JP 5 16075494 16075494 single base substitution C A intron_variant LIRI-JP 5 16075495 16075495 single base substitution C A intron_variant LIRI-JP 5 16075800 16075800 single base substitution C T intron_variant LIRI-JP 5 16076424 16076424 single base substitution C T intron_variant LIRI-JP 5 16076638 16076638 single base substitution C T intron_variant LIRI-JP 5 16077570 16077570 single base substitution T C intron_variant LIRI-JP 5 16078101 16078101 single base substitution T A intron_variant LIRI-JP 5 16078149 16078149 single base substitution T A intron_variant LIRI-JP 5 16078575 16078575 single base substitution T C intron_variant LIRI-JP 5 16078806 16078806 single base substitution G T intron_variant LIRI-JP 5 16078971 16078971 single base substitution G T intron_variant LIRI-JP 5 16079321 16079321 single base substitution T A intron_variant LIRI-JP 5 16079509 16079509 single base substitution A T intron_variant LIRI-JP 5 16080697 16080697 single base substitution T A intron_variant LIRI-JP 5 16080852 16080852 single base substitution A T intron_variant LIRI-JP 5 16081279 16081279 single base substitution T C intron_variant LIRI-JP 5 16081343 16081343 single base substitution A G intron_variant LIRI-JP 5 16081571 16081571 single base substitution T A intron_variant LIRI-JP 5 16081572 16081572 single base substitution C A intron_variant LIRI-JP 5 16081757 16081757 single base substitution G T intron_variant LIRI-JP 5 16082084 16082084 single base substitution A C intron_variant LIRI-JP 5 16082116 16082116 single base substitution T C intron_variant LIRI-JP 5 16084045 16084045 deletion of <=200bp G - intron_variant LIRI-JP 5 16084456 16084456 single base substitution T C intron_variant LIRI-JP 5 16085783 16085783 single base substitution C A intron_variant LIRI-JP 5 16087623 16087623 single base substitution T C downstream_gene_variant LIRI-JP 5 16087623 16087623 single base substitution T C intron_variant LIRI-JP 5 16088305 16088305 insertion of <=200bp - C downstream_gene_variant LIRI-JP 5 16088305 16088305 insertion of <=200bp - C intron_variant LIRI-JP 5 16088795 16088795 single base substitution A T downstream_gene_variant LIRI-JP 5 16088795 16088795 single base substitution A T intron_variant LIRI-JP 5 16088887 16088887 single base substitution A G downstream_gene_variant LIRI-JP 5 16088887 16088887 single base substitution A G intron_variant LIRI-JP 5 16089100 16089100 single base substitution A G downstream_gene_variant LIRI-JP 5 16089100 16089100 single base substitution A G intron_variant LIRI-JP 5 16089155 16089155 single base substitution A G downstream_gene_variant LIRI-JP 5 16089155 16089155 single base substitution A G intron_variant LIRI-JP 5 16089447 16089447 single base substitution T G downstream_gene_variant LIRI-JP 5 16089447 16089447 single base substitution T G intron_variant LIRI-JP 5 16089678 16089678 single base substitution C A downstream_gene_variant LIRI-JP 5 16089678 16089678 single base substitution C A intron_variant LIRI-JP 5 16090005 16090005 single base substitution T A downstream_gene_variant LIRI-JP 5 16090005 16090005 single base substitution T A intron_variant LIRI-JP 5 16092329 16092329 single base substitution C A intron_variant LIRI-JP 5 16093100 16093100 single base substitution T C intron_variant LIRI-JP 5 16094465 16094465 single base substitution T C intron_variant LIRI-JP 5 16095831 16095831 single base substitution A G intron_variant LIRI-JP 5 16095881 16095881 single base substitution C T intron_variant LIRI-JP 5 16097767 16097767 single base substitution T C intron_variant LIRI-JP 5 16098188 16098188 single base substitution A G intron_variant LIRI-JP 5 16098651 16098651 single base substitution T G intron_variant LIRI-JP 5 16099443 16099443 single base substitution A G intron_variant LIRI-JP 5 16099460 16099460 single base substitution T C intron_variant LIRI-JP 5 16099559 16099559 single base substitution T G intron_variant LIRI-JP 5 16099931 16099931 single base substitution G T intron_variant LIRI-JP 5 16100332 16100332 single base substitution C T intron_variant LIRI-JP 5 16101199 16101199 single base substitution T G intron_variant LIRI-JP 5 16101558 16101558 single base substitution C A intron_variant LIRI-JP 5 16102371 16102371 single base substitution C A intron_variant LIRI-JP 5 16102381 16102381 single base substitution T C intron_variant LIRI-JP 5 16102441 16102441 single base substitution A T intron_variant LIRI-JP 5 16103017 16103017 single base substitution T C intron_variant LIRI-JP 5 16103975 16103975 single base substitution G T intron_variant LIRI-JP 5 16103982 16103982 single base substitution A T intron_variant LIRI-JP 5 16104130 16104130 single base substitution T C intron_variant LIRI-JP 5 16104634 16104634 single base substitution T C intron_variant LIRI-JP 5 16104885 16104885 single base substitution T A intron_variant LIRI-JP 5 16105506 16105506 single base substitution A G intron_variant LIRI-JP 5 16106101 16106101 single base substitution A T intron_variant LIRI-JP 5 16107831 16107831 single base substitution G A intron_variant LIRI-JP 5 16108421 16108421 single base substitution G A intron_variant LIRI-JP 5 16108472 16108472 single base substitution A G intron_variant LIRI-JP 5 16108497 16108497 single base substitution C A intron_variant LIRI-JP 5 16108581 16108581 single base substitution C A intron_variant LIRI-JP 5 16108748 16108748 single base substitution G A intron_variant LIRI-JP 5 16108831 16108831 single base substitution G T intron_variant LIRI-JP 5 16110003 16110003 single base substitution A T intron_variant LIRI-JP 5 16110446 16110446 single base substitution A G intron_variant LIRI-JP 5 16111037 16111037 single base substitution C A intron_variant LIRI-JP 5 16111220 16111220 single base substitution G A intron_variant LIRI-JP 5 16113492 16113492 single base substitution G C intron_variant LIRI-JP 5 16113758 16113758 single base substitution A G intron_variant LIRI-JP 5 16115197 16115197 single base substitution A G intron_variant LIRI-JP 5 16115995 16115995 single base substitution C T intron_variant LIRI-JP 5 16116542 16116542 single base substitution G C intron_variant LIRI-JP 5 16116707 16116707 single base substitution C A intron_variant LIRI-JP 5 16117178 16117178 single base substitution C T intron_variant LIRI-JP 5 16119511 16119511 single base substitution G C intron_variant LIRI-JP 5 16119784 16119784 single base substitution T C intron_variant LIRI-JP 5 16120106 16120106 single base substitution C A intron_variant LIRI-JP 5 16121298 16121298 single base substitution G A intron_variant LIRI-JP 5 16121350 16121350 single base substitution G A intron_variant LIRI-JP 5 16121351 16121351 single base substitution C A intron_variant LIRI-JP 5 16122576 16122576 single base substitution A G intron_variant LIRI-JP 5 16123981 16123981 single base substitution A G intron_variant LIRI-JP 5 16124467 16124467 single base substitution T A intron_variant LIRI-JP 5 16125156 16125156 single base substitution T C intron_variant LIRI-JP 5 16125344 16125344 single base substitution T A intron_variant LIRI-JP 5 16126436 16126436 single base substitution A G intron_variant LIRI-JP 5 16126719 16126719 single base substitution T C intron_variant LIRI-JP 5 16126834 16126834 single base substitution C G intron_variant LIRI-JP 5 16126857 16126857 single base substitution T C intron_variant LIRI-JP 5 16127124 16127124 single base substitution C T intron_variant LIRI-JP 5 16127182 16127182 single base substitution A T intron_variant LIRI-JP 5 16128580 16128580 single base substitution C G intron_variant LIRI-JP 5 16128878 16128878 single base substitution T C intron_variant LIRI-JP 5 16130644 16130644 single base substitution A G intron_variant LIRI-JP 5 16130667 16130667 single base substitution A G intron_variant LIRI-JP 5 16130994 16130994 single base substitution T C intron_variant LIRI-JP 5 16131216 16131216 single base substitution A T intron_variant LIRI-JP 5 16132620 16132620 single base substitution T C intron_variant LIRI-JP 5 16132989 16132989 single base substitution C T intron_variant LIRI-JP 5 16134672 16134672 single base substitution A G intron_variant LIRI-JP 5 16135592 16135592 single base substitution A T intron_variant LIRI-JP 5 16136788 16136788 single base substitution A T intron_variant LIRI-JP 5 16137063 16137063 single base substitution A G intron_variant LIRI-JP 5 16137082 16137082 single base substitution A G intron_variant LIRI-JP 5 16137581 16137581 single base substitution C A intron_variant LIRI-JP 5 16138994 16138994 single base substitution C G intron_variant LIRI-JP 5 16139487 16139487 single base substitution C T intron_variant LIRI-JP 5 16139520 16139520 single base substitution A G intron_variant LIRI-JP 5 16141053 16141053 single base substitution T C intron_variant LIRI-JP 5 16141150 16141150 single base substitution A G intron_variant LIRI-JP 5 16141314 16141314 single base substitution A G intron_variant LIRI-JP 5 16142668 16142668 single base substitution G C intron_variant LIRI-JP 5 16142840 16142840 single base substitution G A intron_variant LIRI-JP 5 16144593 16144593 single base substitution G C intron_variant LIRI-JP 5 16144728 16144728 single base substitution T C intron_variant LIRI-JP 5 16145385 16145385 single base substitution G A intron_variant LIRI-JP 5 16147458 16147458 single base substitution C A intron_variant LIRI-JP 5 16149511 16149511 single base substitution C T intron_variant LIRI-JP 5 16150012 16150012 single base substitution A C intron_variant LIRI-JP 5 16150357 16150357 single base substitution G A intron_variant LIRI-JP 5 16152036 16152036 single base substitution C T intron_variant LIRI-JP 5 16152599 16152599 single base substitution G A intron_variant LIRI-JP 5 16152995 16152995 single base substitution T C intron_variant LIRI-JP 5 16153189 16153189 single base substitution A G intron_variant LIRI-JP 5 16154179 16154179 single base substitution C T intron_variant LIRI-JP 5 16154733 16154733 single base substitution T A intron_variant LIRI-JP 5 16156287 16156287 single base substitution T C intron_variant LIRI-JP 5 16157735 16157735 single base substitution A G intron_variant LIRI-JP 5 16158026 16158026 single base substitution A T intron_variant LIRI-JP 5 16158160 16158160 single base substitution A T intron_variant LIRI-JP 5 16158433 16158433 single base substitution A G intron_variant LIRI-JP 5 16159001 16159001 single base substitution C T intron_variant LIRI-JP 5 16160044 16160044 single base substitution A C intron_variant LIRI-JP 5 16160560 16160560 single base substitution A G intron_variant LIRI-JP 5 16160773 16160773 single base substitution T A intron_variant LIRI-JP 5 16162129 16162129 single base substitution A C intron_variant LIRI-JP 5 16162653 16162653 single base substitution A G intron_variant LIRI-JP 5 16163690 16163690 single base substitution T C intron_variant LIRI-JP 5 16164159 16164159 single base substitution C A intron_variant LIRI-JP 5 16164521 16164521 single base substitution C A intron_variant LIRI-JP 5 16164839 16164839 single base substitution A G intron_variant LIRI-JP 5 16165727 16165727 single base substitution T A intron_variant LIRI-JP 5 16165852 16165852 single base substitution T C intron_variant LIRI-JP 5 16166509 16166509 single base substitution T C intron_variant LIRI-JP 5 16166748 16166748 single base substitution A T intron_variant LIRI-JP 5 16169904 16169904 single base substitution A G intron_variant LIRI-JP 5 16170031 16170031 single base substitution C G intron_variant LIRI-JP 5 16170148 16170148 single base substitution A G intron_variant LIRI-JP 5 16170516 16170516 single base substitution T A intron_variant LIRI-JP 5 16171612 16171612 single base substitution G A intron_variant LIRI-JP 5 16171664 16171664 single base substitution G T intron_variant LIRI-JP 5 16171693 16171693 single base substitution A G intron_variant LIRI-JP 5 16172373 16172373 single base substitution T C intron_variant LIRI-JP 5 16172537 16172537 single base substitution T A intron_variant LIRI-JP 5 16172921 16172921 single base substitution T C intron_variant LIRI-JP 5 16172922 16172922 single base substitution C A intron_variant LIRI-JP 5 16173845 16173845 single base substitution A G intron_variant LIRI-JP 5 16174027 16174027 single base substitution C A intron_variant LIRI-JP 5 16174116 16174116 single base substitution T C intron_variant LIRI-JP 5 16174360 16174360 single base substitution T C intron_variant LIRI-JP 5 16174792 16174792 single base substitution G T intron_variant LIRI-JP 5 16177253 16177253 single base substitution T C intron_variant LIRI-JP 5 16177342 16177342 single base substitution A G intron_variant LIRI-JP 5 16180549 16180549 single base substitution A G intron_variant LIRI-JP 5 16180549 16180549 single base substitution A G upstream_gene_variant LIRI-JP 5 16181021 16181021 single base substitution T G upstream_gene_variant LIRI-JP 5 16181481 16181481 single base substitution A G upstream_gene_variant LIRI-JP 5 16182829 16182829 single base substitution C A upstream_gene_variant LIRI-JP 5 16182830 16182830 single base substitution C A upstream_gene_variant LIRI-JP 5 16182896 16182896 single base substitution T C upstream_gene_variant LIRI-JP 5 16183437 16183437 single base substitution C T upstream_gene_variant LIRI-JP 5 16183573 16183573 single base substitution G T upstream_gene_variant LIRI-JP 5 16183930 16183930 single base substitution C T upstream_gene_variant LIRI-JP 5 16184222 16184222 single base substitution C T upstream_gene_variant LIRI-JP 5 16185420 16185420 single base substitution T A upstream_gene_variant LUSC-KR 5 16064496 16064496 single base substitution T C downstream_gene_variant LUSC-KR 5 16064956 16064956 single base substitution G T downstream_gene_variant LUSC-KR 5 16065146 16065146 single base substitution A G downstream_gene_variant LUSC-KR 5 16065409 16065409 single base substitution G T downstream_gene_variant LUSC-KR 5 16065633 16065633 single base substitution A T downstream_gene_variant LUSC-KR 5 16065756 16065756 single base substitution G A downstream_gene_variant LUSC-KR 5 16066568 16066568 single base substitution T C downstream_gene_variant LUSC-KR 5 16069457 16069457 single base substitution G A intron_variant LUSC-KR 5 16071429 16071429 single base substitution G C intron_variant LUSC-KR 5 16073270 16073270 single base substitution T A intron_variant LUSC-KR 5 16074085 16074085 single base substitution C A intron_variant LUSC-KR 5 16074114 16074114 single base substitution A T intron_variant LUSC-KR 5 16075163 16075163 single base substitution C T intron_variant LUSC-KR 5 16075382 16075382 single base substitution G A intron_variant LUSC-KR 5 16078611 16078611 single base substitution T C intron_variant LUSC-KR 5 16080075 16080075 single base substitution C A intron_variant LUSC-KR 5 16080671 16080671 single base substitution G A intron_variant LUSC-KR 5 16081033 16081033 single base substitution C T intron_variant LUSC-KR 5 16081201 16081201 single base substitution C G intron_variant LUSC-KR 5 16081258 16081258 single base substitution C A intron_variant LUSC-KR 5 16082338 16082338 single base substitution C G intron_variant LUSC-KR 5 16082387 16082387 single base substitution A C intron_variant LUSC-KR 5 16084021 16084021 single base substitution T C intron_variant LUSC-KR 5 16084618 16084618 single base substitution G T intron_variant LUSC-KR 5 16085166 16085166 single base substitution A T intron_variant LUSC-KR 5 16085487 16085487 single base substitution G T intron_variant LUSC-KR 5 16085604 16085604 single base substitution A T intron_variant LUSC-KR 5 16085715 16085715 single base substitution C A intron_variant LUSC-KR 5 16086666 16086666 single base substitution T C downstream_gene_variant LUSC-KR 5 16086666 16086666 single base substitution T C intron_variant LUSC-KR 5 16086946 16086946 single base substitution G C downstream_gene_variant LUSC-KR 5 16086946 16086946 single base substitution G C intron_variant LUSC-KR 5 16087223 16087223 single base substitution A G downstream_gene_variant LUSC-KR 5 16087223 16087223 single base substitution A G intron_variant LUSC-KR 5 16087511 16087511 single base substitution C T downstream_gene_variant LUSC-KR 5 16087511 16087511 single base substitution C T intron_variant LUSC-KR 5 16087923 16087923 single base substitution A C downstream_gene_variant LUSC-KR 5 16087923 16087923 single base substitution A C intron_variant LUSC-KR 5 16088840 16088840 single base substitution C G downstream_gene_variant LUSC-KR 5 16088840 16088840 single base substitution C G intron_variant LUSC-KR 5 16089457 16089457 single base substitution C T downstream_gene_variant LUSC-KR 5 16089457 16089457 single base substitution C T intron_variant LUSC-KR 5 16089502 16089502 single base substitution T C downstream_gene_variant LUSC-KR 5 16089502 16089502 single base substitution T C intron_variant LUSC-KR 5 16089561 16089561 single base substitution C A downstream_gene_variant LUSC-KR 5 16089561 16089561 single base substitution C A intron_variant LUSC-KR 5 16092266 16092266 single base substitution A T intron_variant LUSC-KR 5 16093819 16093819 single base substitution C G intron_variant LUSC-KR 5 16094419 16094419 single base substitution C A intron_variant LUSC-KR 5 16094494 16094494 single base substitution G T intron_variant LUSC-KR 5 16095946 16095946 single base substitution C T intron_variant LUSC-KR 5 16097484 16097484 single base substitution G A intron_variant LUSC-KR 5 16097817 16097817 single base substitution A G intron_variant LUSC-KR 5 16098119 16098119 single base substitution C G intron_variant LUSC-KR 5 16100530 16100530 single base substitution G T intron_variant LUSC-KR 5 16100654 16100654 single base substitution A G intron_variant LUSC-KR 5 16101009 16101009 single base substitution C G intron_variant LUSC-KR 5 16102079 16102079 single base substitution G A intron_variant LUSC-KR 5 16102496 16102496 single base substitution C A intron_variant LUSC-KR 5 16103250 16103250 single base substitution C A intron_variant LUSC-KR 5 16103679 16103679 single base substitution G T intron_variant LUSC-KR 5 16103816 16103816 single base substitution G A intron_variant LUSC-KR 5 16103998 16103998 single base substitution C A intron_variant LUSC-KR 5 16106577 16106577 single base substitution G T intron_variant LUSC-KR 5 16107938 16107938 single base substitution G T intron_variant LUSC-KR 5 16108420 16108420 single base substitution C G intron_variant LUSC-KR 5 16110203 16110203 single base substitution C G intron_variant LUSC-KR 5 16111409 16111409 single base substitution A T intron_variant LUSC-KR 5 16112218 16112218 single base substitution G T intron_variant LUSC-KR 5 16112242 16112242 single base substitution G T intron_variant LUSC-KR 5 16113410 16113410 single base substitution G T intron_variant LUSC-KR 5 16114525 16114525 single base substitution T C intron_variant LUSC-KR 5 16114526 16114526 single base substitution C A intron_variant LUSC-KR 5 16116000 16116000 single base substitution T A intron_variant LUSC-KR 5 16116032 16116032 single base substitution G T intron_variant LUSC-KR 5 16117977 16117977 single base substitution G T intron_variant LUSC-KR 5 16118514 16118514 single base substitution G A intron_variant LUSC-KR 5 16119195 16119195 single base substitution G A intron_variant LUSC-KR 5 16120060 16120060 single base substitution G T intron_variant LUSC-KR 5 16120653 16120653 single base substitution A G intron_variant LUSC-KR 5 16121004 16121004 single base substitution G T intron_variant LUSC-KR 5 16121438 16121438 single base substitution T A intron_variant LUSC-KR 5 16122525 16122525 single base substitution C T intron_variant LUSC-KR 5 16122726 16122726 single base substitution T C intron_variant LUSC-KR 5 16123357 16123357 single base substitution G T intron_variant LUSC-KR 5 16123575 16123575 single base substitution G A intron_variant LUSC-KR 5 16123791 16123791 single base substitution A G intron_variant LUSC-KR 5 16123938 16123938 single base substitution A G intron_variant LUSC-KR 5 16126274 16126274 single base substitution G T intron_variant LUSC-KR 5 16126428 16126428 single base substitution C T intron_variant LUSC-KR 5 16127617 16127617 single base substitution C G intron_variant LUSC-KR 5 16128641 16128641 single base substitution G A intron_variant LUSC-KR 5 16129036 16129036 single base substitution C T intron_variant LUSC-KR 5 16129122 16129122 single base substitution T A intron_variant LUSC-KR 5 16130596 16130596 single base substitution G A intron_variant LUSC-KR 5 16132140 16132140 single base substitution G A intron_variant LUSC-KR 5 16132564 16132564 single base substitution C A intron_variant LUSC-KR 5 16132948 16132948 single base substitution C A intron_variant LUSC-KR 5 16133047 16133047 single base substitution A G intron_variant LUSC-KR 5 16133618 16133618 single base substitution T G intron_variant LUSC-KR 5 16134379 16134379 single base substitution A G intron_variant LUSC-KR 5 16135798 16135798 single base substitution G T intron_variant LUSC-KR 5 16136035 16136035 single base substitution T A intron_variant LUSC-KR 5 16138577 16138577 single base substitution G C intron_variant LUSC-KR 5 16140148 16140148 single base substitution A C intron_variant LUSC-KR 5 16142106 16142106 single base substitution C A intron_variant LUSC-KR 5 16142191 16142191 single base substitution G C intron_variant LUSC-KR 5 16142632 16142632 single base substitution C G intron_variant LUSC-KR 5 16142978 16142978 single base substitution C A intron_variant LUSC-KR 5 16143352 16143352 single base substitution C T intron_variant LUSC-KR 5 16143427 16143427 single base substitution C A intron_variant LUSC-KR 5 16144424 16144424 single base substitution C A intron_variant LUSC-KR 5 16145206 16145206 single base substitution C T intron_variant LUSC-KR 5 16145380 16145380 single base substitution G T intron_variant LUSC-KR 5 16146638 16146638 single base substitution G T intron_variant LUSC-KR 5 16146640 16146640 single base substitution C A intron_variant LUSC-KR 5 16148615 16148615 single base substitution G A intron_variant LUSC-KR 5 16150142 16150142 single base substitution G T intron_variant LUSC-KR 5 16150680 16150680 single base substitution G T intron_variant LUSC-KR 5 16151612 16151612 single base substitution C A intron_variant LUSC-KR 5 16151776 16151776 single base substitution G T intron_variant LUSC-KR 5 16152118 16152118 single base substitution C G intron_variant LUSC-KR 5 16152996 16152996 single base substitution G T intron_variant LUSC-KR 5 16153476 16153476 single base substitution C A intron_variant LUSC-KR 5 16154815 16154815 single base substitution T A intron_variant LUSC-KR 5 16155241 16155241 single base substitution A T intron_variant LUSC-KR 5 16157252 16157252 single base substitution G C intron_variant LUSC-KR 5 16157425 16157425 single base substitution C T intron_variant LUSC-KR 5 16158819 16158819 single base substitution T A intron_variant LUSC-KR 5 16159017 16159017 single base substitution T A intron_variant LUSC-KR 5 16159606 16159606 single base substitution A T intron_variant LUSC-KR 5 16160058 16160058 single base substitution G A intron_variant LUSC-KR 5 16160999 16160999 single base substitution A T intron_variant LUSC-KR 5 16161514 16161514 single base substitution C G intron_variant LUSC-KR 5 16162153 16162153 single base substitution G C intron_variant LUSC-KR 5 16163429 16163429 single base substitution C A intron_variant LUSC-KR 5 16163556 16163556 single base substitution C T intron_variant LUSC-KR 5 16164508 16164508 single base substitution T G intron_variant LUSC-KR 5 16164665 16164665 single base substitution C T intron_variant LUSC-KR 5 16164694 16164694 single base substitution C G intron_variant LUSC-KR 5 16166649 16166649 single base substitution A T intron_variant LUSC-KR 5 16166941 16166941 single base substitution A G intron_variant LUSC-KR 5 16167670 16167670 single base substitution G A intron_variant LUSC-KR 5 16169492 16169492 single base substitution G T intron_variant LUSC-KR 5 16170422 16170422 single base substitution C T intron_variant LUSC-KR 5 16171460 16171460 single base substitution G C intron_variant LUSC-KR 5 16171467 16171467 single base substitution C A intron_variant LUSC-KR 5 16171908 16171908 single base substitution A C intron_variant LUSC-KR 5 16172437 16172437 single base substitution T G intron_variant LUSC-KR 5 16172438 16172438 single base substitution G T intron_variant LUSC-KR 5 16172976 16172976 single base substitution C A intron_variant LUSC-KR 5 16173112 16173112 single base substitution T A intron_variant LUSC-KR 5 16173925 16173925 single base substitution C T intron_variant LUSC-KR 5 16174424 16174424 single base substitution C A intron_variant LUSC-KR 5 16174817 16174817 single base substitution T C intron_variant LUSC-KR 5 16175150 16175150 single base substitution G A intron_variant LUSC-KR 5 16175207 16175207 single base substitution G A intron_variant LUSC-KR 5 16175756 16175756 single base substitution G T intron_variant LUSC-KR 5 16176058 16176058 single base substitution G C intron_variant LUSC-KR 5 16176473 16176473 single base substitution C G intron_variant LUSC-KR 5 16176663 16176663 single base substitution G A intron_variant LUSC-KR 5 16178521 16178521 single base substitution C T intron_variant LUSC-KR 5 16178521 16178521 single base substitution C T upstream_gene_variant LUSC-KR 5 16180247 16180247 single base substitution G T intron_variant LUSC-KR 5 16180247 16180247 single base substitution G T upstream_gene_variant LUSC-KR 5 16180942 16180942 single base substitution T C upstream_gene_variant LUSC-KR 5 16182757 16182757 single base substitution C A upstream_gene_variant LUSC-KR 5 16183023 16183023 single base substitution G T upstream_gene_variant LUSC-KR 5 16183232 16183232 single base substitution C A upstream_gene_variant LUSC-KR 5 16183576 16183576 single base substitution C A upstream_gene_variant LUSC-KR 5 16183762 16183762 single base substitution A G upstream_gene_variant LUSC-KR 5 16183931 16183931 single base substitution C A upstream_gene_variant LUSC-KR 5 16183972 16183972 single base substitution T A upstream_gene_variant LUSC-US 5 16067764 16067764 single base substitution C G 3_prime_UTR_variant LUSC-US 5 16067764 16067764 single base substitution C G missense_variant R342T 1025G>C LUSC-US 5 16090997 16090997 single base substitution C A exon_variant LUSC-US 5 16090997 16090997 single base substitution C A intron_variant LUSC-US 5 16090997 16090997 single base substitution C A splice_donor_variant LUSC-US 5 16177920 16177920 single base substitution C T exon_variant LUSC-US 5 16177920 16177920 single base substitution C T stop_gained W203* 608G>A LUSC-US 5 16177920 16177920 single base substitution C T stop_gained W6* 17G>A MALY-DE 5 16063025 16063025 single base substitution C A downstream_gene_variant MALY-DE 5 16063560 16063560 single base substitution C T downstream_gene_variant MALY-DE 5 16064552 16064552 single base substitution A G downstream_gene_variant MALY-DE 5 16066462 16066462 single base substitution C T downstream_gene_variant MALY-DE 5 16067305 16067305 single base substitution G T 3_prime_UTR_variant MALY-DE 5 16067305 16067305 single base substitution G T downstream_gene_variant MALY-DE 5 16068800 16068800 single base substitution A G intron_variant MALY-DE 5 16068959 16068959 single base substitution G C intron_variant MALY-DE 5 16071174 16071174 single base substitution C A intron_variant MALY-DE 5 16074555 16074555 single base substitution A C intron_variant MALY-DE 5 16075131 16075131 single base substitution A G intron_variant MALY-DE 5 16077487 16077487 single base substitution A C intron_variant MALY-DE 5 16078669 16078669 single base substitution T A intron_variant MALY-DE 5 16078670 16078670 single base substitution C T intron_variant MALY-DE 5 16078937 16078937 single base substitution G A intron_variant MALY-DE 5 16079488 16079488 single base substitution T A intron_variant MALY-DE 5 16080304 16080304 insertion of <=200bp - C intron_variant MALY-DE 5 16081469 16081469 single base substitution C T intron_variant MALY-DE 5 16084760 16084760 deletion of <=200bp A - intron_variant MALY-DE 5 16084793 16084793 single base substitution A C intron_variant MALY-DE 5 16085314 16085314 deletion of <=200bp T - intron_variant MALY-DE 5 16086499 16086499 single base substitution A G downstream_gene_variant MALY-DE 5 16086499 16086499 single base substitution A G intron_variant MALY-DE 5 16089321 16089321 single base substitution A C downstream_gene_variant MALY-DE 5 16089321 16089321 single base substitution A C intron_variant MALY-DE 5 16089453 16089453 single base substitution G A downstream_gene_variant MALY-DE 5 16089453 16089453 single base substitution G A intron_variant MALY-DE 5 16089896 16089896 single base substitution C A downstream_gene_variant MALY-DE 5 16089896 16089896 single base substitution C A intron_variant MALY-DE 5 16090248 16090248 single base substitution C A downstream_gene_variant MALY-DE 5 16090248 16090248 single base substitution C A intron_variant MALY-DE 5 16090440 16090440 single base substitution T C downstream_gene_variant MALY-DE 5 16090440 16090440 single base substitution T C intron_variant MALY-DE 5 16093095 16093095 single base substitution T A intron_variant MALY-DE 5 16094128 16094128 single base substitution A C intron_variant MALY-DE 5 16094839 16094839 single base substitution A G intron_variant MALY-DE 5 16095885 16095885 single base substitution C A intron_variant MALY-DE 5 16096217 16096217 single base substitution C G intron_variant MALY-DE 5 16096510 16096510 single base substitution T A intron_variant MALY-DE 5 16097602 16097602 single base substitution G A intron_variant MALY-DE 5 16104380 16104380 single base substitution C T intron_variant MALY-DE 5 16105024 16105025 deletion of <=200bp AC - intron_variant MALY-DE 5 16105660 16105660 single base substitution G A intron_variant MALY-DE 5 16106069 16106069 single base substitution A G intron_variant MALY-DE 5 16113974 16113974 single base substitution T G intron_variant MALY-DE 5 16115328 16115328 single base substitution A C intron_variant MALY-DE 5 16115714 16115714 single base substitution T G intron_variant MALY-DE 5 16116263 16116263 single base substitution A C intron_variant MALY-DE 5 16116286 16116286 single base substitution C A intron_variant MALY-DE 5 16118271 16118271 single base substitution C T intron_variant MALY-DE 5 16121526 16121526 single base substitution G T intron_variant MALY-DE 5 16123090 16123090 single base substitution G C intron_variant MALY-DE 5 16124551 16124551 single base substitution T C intron_variant MALY-DE 5 16126389 16126389 single base substitution G A intron_variant MALY-DE 5 16128459 16128459 single base substitution C T intron_variant MALY-DE 5 16129584 16129584 single base substitution G A intron_variant MALY-DE 5 16130361 16130362 deletion of <=200bp AC - intron_variant MALY-DE 5 16131093 16131093 single base substitution A C intron_variant MALY-DE 5 16135786 16135786 single base substitution G T intron_variant MALY-DE 5 16136261 16136261 single base substitution G A intron_variant MALY-DE 5 16138098 16138098 single base substitution G T intron_variant MALY-DE 5 16141059 16141059 single base substitution G T intron_variant MALY-DE 5 16141575 16141575 single base substitution G A intron_variant MALY-DE 5 16141873 16141873 single base substitution A G intron_variant MALY-DE 5 16142228 16142228 single base substitution C A intron_variant MALY-DE 5 16142784 16142784 single base substitution T G intron_variant MALY-DE 5 16144494 16144494 single base substitution C T intron_variant MALY-DE 5 16145682 16145682 single base substitution G C intron_variant MALY-DE 5 16147489 16147489 single base substitution A C intron_variant MALY-DE 5 16149698 16149698 single base substitution A G intron_variant MALY-DE 5 16150894 16150894 single base substitution A G intron_variant MALY-DE 5 16151689 16151689 single base substitution T C intron_variant MALY-DE 5 16153380 16153380 insertion of <=200bp - A intron_variant MALY-DE 5 16155197 16155197 single base substitution A C intron_variant MALY-DE 5 16156315 16156315 single base substitution C T intron_variant MALY-DE 5 16157057 16157057 single base substitution T G intron_variant MALY-DE 5 16158498 16158498 single base substitution A T intron_variant MALY-DE 5 16158566 16158566 single base substitution T A intron_variant MALY-DE 5 16162339 16162339 single base substitution T G intron_variant MALY-DE 5 16162655 16162655 single base substitution A T intron_variant MALY-DE 5 16162923 16162923 single base substitution A T intron_variant MALY-DE 5 16165192 16165192 single base substitution C A intron_variant MALY-DE 5 16165199 16165199 single base substitution G C intron_variant MALY-DE 5 16166777 16166777 single base substitution A C intron_variant MALY-DE 5 16167491 16167491 single base substitution A G intron_variant MALY-DE 5 16168219 16168219 single base substitution G T intron_variant MALY-DE 5 16170023 16170023 deletion of <=200bp C - intron_variant MALY-DE 5 16172063 16172063 single base substitution T C intron_variant MALY-DE 5 16172097 16172097 single base substitution A C intron_variant MALY-DE 5 16172606 16172606 single base substitution A G intron_variant MALY-DE 5 16174328 16174328 single base substitution C A intron_variant MALY-DE 5 16175637 16175637 single base substitution A T intron_variant MALY-DE 5 16175698 16175698 single base substitution C A intron_variant MALY-DE 5 16180325 16180325 single base substitution G T intron_variant MALY-DE 5 16180325 16180325 single base substitution G T upstream_gene_variant MALY-DE 5 16181163 16181163 single base substitution T A upstream_gene_variant MALY-DE 5 16181706 16181706 single base substitution A T upstream_gene_variant MALY-DE 5 16181787 16181787 single base substitution G A upstream_gene_variant MALY-DE 5 16181927 16181927 single base substitution G T upstream_gene_variant MALY-DE 5 16184797 16184797 single base substitution C T upstream_gene_variant MELA-AU 5 16062293 16062293 single base substitution G A downstream_gene_variant MELA-AU 5 16062294 16062294 single base substitution G A downstream_gene_variant MELA-AU 5 16062318 16062318 single base substitution G A downstream_gene_variant MELA-AU 5 16062343 16062344 multiple base substitution (>=2bp and <=200bp) GG AT downstream_gene_variant MELA-AU 5 16062511 16062511 single base substitution C T downstream_gene_variant MELA-AU 5 16062635 16062635 single base substitution C T downstream_gene_variant MELA-AU 5 16062648 16062648 single base substitution G A downstream_gene_variant MELA-AU 5 16062667 16062667 single base substitution C T downstream_gene_variant MELA-AU 5 16062680 16062680 single base substitution G A downstream_gene_variant MELA-AU 5 16062784 16062784 single base substitution C T downstream_gene_variant MELA-AU 5 16062914 16062914 single base substitution G A downstream_gene_variant MELA-AU 5 16063032 16063032 single base substitution G A downstream_gene_variant MELA-AU 5 16063088 16063088 single base substitution T G downstream_gene_variant MELA-AU 5 16063164 16063164 single base substitution G A downstream_gene_variant MELA-AU 5 16063290 16063290 single base substitution G A downstream_gene_variant MELA-AU 5 16063310 16063310 single base substitution C T downstream_gene_variant MELA-AU 5 16063410 16063410 single base substitution C T downstream_gene_variant MELA-AU 5 16063519 16063519 single base substitution C T downstream_gene_variant MELA-AU 5 16063588 16063588 single base substitution C T downstream_gene_variant MELA-AU 5 16063613 16063613 single base substitution G A downstream_gene_variant MELA-AU 5 16063731 16063731 single base substitution G A downstream_gene_variant MELA-AU 5 16064067 16064067 single base substitution T C downstream_gene_variant MELA-AU 5 16064100 16064100 single base substitution C T downstream_gene_variant MELA-AU 5 16064125 16064125 single base substitution C T downstream_gene_variant MELA-AU 5 16064192 16064192 single base substitution G A downstream_gene_variant MELA-AU 5 16064241 16064241 single base substitution C A downstream_gene_variant MELA-AU 5 16064284 16064284 single base substitution A G downstream_gene_variant MELA-AU 5 16064317 16064317 single base substitution G A downstream_gene_variant MELA-AU 5 16064416 16064416 single base substitution C T downstream_gene_variant MELA-AU 5 16064417 16064417 single base substitution C T downstream_gene_variant MELA-AU 5 16064460 16064460 single base substitution G A downstream_gene_variant MELA-AU 5 16064506 16064506 single base substitution T C downstream_gene_variant MELA-AU 5 16064554 16064554 single base substitution G A downstream_gene_variant MELA-AU 5 16064629 16064629 single base substitution G T downstream_gene_variant MELA-AU 5 16064641 16064641 single base substitution C T downstream_gene_variant MELA-AU 5 16064712 16064712 single base substitution C T downstream_gene_variant MELA-AU 5 16064765 16064765 single base substitution C T downstream_gene_variant MELA-AU 5 16064840 16064840 single base substitution C T downstream_gene_variant MELA-AU 5 16064907 16064907 single base substitution C T downstream_gene_variant MELA-AU 5 16065021 16065022 multiple base substitution (>=2bp and <=200bp) TC GT downstream_gene_variant MELA-AU 5 16065022 16065022 single base substitution C T downstream_gene_variant MELA-AU 5 16065074 16065074 single base substitution C T downstream_gene_variant MELA-AU 5 16065160 16065160 single base substitution T A downstream_gene_variant MELA-AU 5 16065190 16065190 single base substitution G A downstream_gene_variant MELA-AU 5 16065331 16065331 single base substitution C T downstream_gene_variant MELA-AU 5 16065438 16065438 single base substitution G A downstream_gene_variant MELA-AU 5 16065443 16065443 single base substitution C T downstream_gene_variant MELA-AU 5 16065517 16065517 single base substitution C G downstream_gene_variant MELA-AU 5 16065544 16065544 single base substitution T C downstream_gene_variant MELA-AU 5 16065548 16065548 single base substitution G A downstream_gene_variant MELA-AU 5 16065552 16065553 multiple base substitution (>=2bp and <=200bp) GG AT downstream_gene_variant MELA-AU 5 16065583 16065583 single base substitution T C downstream_gene_variant MELA-AU 5 16065586 16065586 single base substitution C T downstream_gene_variant MELA-AU 5 16065633 16065633 single base substitution A T downstream_gene_variant MELA-AU 5 16065754 16065754 single base substitution C T downstream_gene_variant MELA-AU 5 16065759 16065759 single base substitution G A downstream_gene_variant MELA-AU 5 16065920 16065920 single base substitution C T downstream_gene_variant MELA-AU 5 16065969 16065969 single base substitution G A downstream_gene_variant MELA-AU 5 16066021 16066021 single base substitution C T downstream_gene_variant MELA-AU 5 16066022 16066022 single base substitution C T downstream_gene_variant MELA-AU 5 16066081 16066081 single base substitution C T downstream_gene_variant MELA-AU 5 16066165 16066165 single base substitution G A downstream_gene_variant MELA-AU 5 16066195 16066195 single base substitution C T downstream_gene_variant MELA-AU 5 16066195 16066196 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 16066206 16066206 single base substitution G A downstream_gene_variant MELA-AU 5 16066246 16066246 single base substitution C T downstream_gene_variant MELA-AU 5 16066296 16066296 single base substitution G A downstream_gene_variant MELA-AU 5 16066315 16066315 single base substitution C T downstream_gene_variant MELA-AU 5 16066351 16066351 deletion of <=200bp C - downstream_gene_variant MELA-AU 5 16066485 16066485 single base substitution G A downstream_gene_variant MELA-AU 5 16066502 16066502 single base substitution C T downstream_gene_variant MELA-AU 5 16066509 16066509 single base substitution T A downstream_gene_variant MELA-AU 5 16066577 16066577 single base substitution C T downstream_gene_variant MELA-AU 5 16066594 16066594 single base substitution C T downstream_gene_variant MELA-AU 5 16066605 16066605 single base substitution C T downstream_gene_variant MELA-AU 5 16066618 16066618 single base substitution T A downstream_gene_variant MELA-AU 5 16066631 16066631 single base substitution C T downstream_gene_variant MELA-AU 5 16066715 16066715 single base substitution C T downstream_gene_variant MELA-AU 5 16066768 16066768 single base substitution G A downstream_gene_variant MELA-AU 5 16066780 16066780 single base substitution G A downstream_gene_variant MELA-AU 5 16066855 16066855 single base substitution G A downstream_gene_variant MELA-AU 5 16066858 16066858 single base substitution G A downstream_gene_variant MELA-AU 5 16066990 16066990 single base substitution C T downstream_gene_variant MELA-AU 5 16067148 16067148 single base substitution G A downstream_gene_variant MELA-AU 5 16067228 16067228 single base substitution G A downstream_gene_variant MELA-AU 5 16067247 16067247 single base substitution G A downstream_gene_variant MELA-AU 5 16067281 16067281 single base substitution A T 3_prime_UTR_variant MELA-AU 5 16067281 16067281 single base substitution A T downstream_gene_variant MELA-AU 5 16067400 16067400 single base substitution G A 3_prime_UTR_variant MELA-AU 5 16067400 16067400 single base substitution G A downstream_gene_variant MELA-AU 5 16067496 16067496 single base substitution T G 3_prime_UTR_variant MELA-AU 5 16067585 16067585 single base substitution C T 3_prime_UTR_variant MELA-AU 5 16067585 16067585 single base substitution C T missense_variant V402M 1204G>A MELA-AU 5 16067612 16067612 single base substitution C T 3_prime_UTR_variant MELA-AU 5 16067612 16067612 single base substitution C T missense_variant G393R 1177G>A MELA-AU 5 16067639 16067639 single base substitution C T 3_prime_UTR_variant MELA-AU 5 16067639 16067639 single base substitution C T missense_variant E384K 1150G>A MELA-AU 5 16067653 16067653 single base substitution C T 3_prime_UTR_variant MELA-AU 5 16067653 16067653 single base substitution C T missense_variant R379Q 1136G>A MELA-AU 5 16067711 16067711 single base substitution T C 3_prime_UTR_variant MELA-AU 5 16067711 16067711 single base substitution T C missense_variant T360A 1078A>G MELA-AU 5 16067798 16067798 single base substitution C T 3_prime_UTR_variant MELA-AU 5 16067798 16067798 single base substitution C T missense_variant E331K 991G>A MELA-AU 5 16067888 16067888 single base substitution C T missense_variant E301K 901G>A MELA-AU 5 16067888 16067888 single base substitution C T missense_variant M39I 117G>A MELA-AU 5 16068105 16068105 single base substitution G A intron_variant MELA-AU 5 16068124 16068124 single base substitution G A intron_variant MELA-AU 5 16068148 16068148 single base substitution T G intron_variant MELA-AU 5 16068150 16068150 single base substitution C T intron_variant MELA-AU 5 16068182 16068182 single base substitution G A intron_variant MELA-AU 5 16068354 16068354 single base substitution C T intron_variant MELA-AU 5 16068492 16068492 single base substitution C T intron_variant MELA-AU 5 16068542 16068542 single base substitution G A intron_variant MELA-AU 5 16068801 16068801 single base substitution C T intron_variant MELA-AU 5 16068811 16068811 single base substitution C T intron_variant MELA-AU 5 16068854 16068854 single base substitution C T intron_variant MELA-AU 5 16068857 16068857 single base substitution G A intron_variant MELA-AU 5 16068890 16068890 single base substitution C T intron_variant MELA-AU 5 16068976 16068976 single base substitution C T intron_variant MELA-AU 5 16069077 16069077 single base substitution T C intron_variant MELA-AU 5 16069173 16069173 single base substitution G A intron_variant MELA-AU 5 16069234 16069234 single base substitution C T intron_variant MELA-AU 5 16069262 16069262 single base substitution G A intron_variant MELA-AU 5 16069301 16069301 single base substitution C T intron_variant MELA-AU 5 16069314 16069314 single base substitution C T intron_variant MELA-AU 5 16069474 16069474 single base substitution A C intron_variant MELA-AU 5 16069488 16069488 single base substitution G A intron_variant MELA-AU 5 16069507 16069507 single base substitution G A intron_variant MELA-AU 5 16069512 16069512 single base substitution C T intron_variant MELA-AU 5 16069545 16069545 single base substitution A G intron_variant MELA-AU 5 16069631 16069631 single base substitution A C intron_variant MELA-AU 5 16069660 16069660 single base substitution G A intron_variant MELA-AU 5 16069669 16069669 single base substitution G A intron_variant MELA-AU 5 16069707 16069707 single base substitution G A intron_variant MELA-AU 5 16069760 16069760 single base substitution C T intron_variant MELA-AU 5 16069766 16069766 single base substitution G A intron_variant MELA-AU 5 16069777 16069777 single base substitution G A intron_variant MELA-AU 5 16069801 16069801 single base substitution G A intron_variant MELA-AU 5 16069929 16069929 single base substitution C T intron_variant MELA-AU 5 16069935 16069935 single base substitution G A intron_variant MELA-AU 5 16070068 16070068 single base substitution T A intron_variant MELA-AU 5 16070136 16070136 single base substitution T A intron_variant MELA-AU 5 16070248 16070248 single base substitution C G intron_variant MELA-AU 5 16070275 16070275 single base substitution G A intron_variant MELA-AU 5 16070356 16070356 single base substitution C T intron_variant MELA-AU 5 16070370 16070370 single base substitution C T intron_variant MELA-AU 5 16070434 16070434 single base substitution G A intron_variant MELA-AU 5 16070435 16070435 single base substitution G A intron_variant MELA-AU 5 16070443 16070443 single base substitution C T intron_variant MELA-AU 5 16070536 16070536 single base substitution G A intron_variant MELA-AU 5 16070550 16070550 single base substitution C T intron_variant MELA-AU 5 16070588 16070588 single base substitution C T intron_variant MELA-AU 5 16070648 16070648 single base substitution G A intron_variant MELA-AU 5 16070661 16070661 single base substitution C T intron_variant MELA-AU 5 16070673 16070673 single base substitution T C intron_variant MELA-AU 5 16070737 16070737 single base substitution G A intron_variant MELA-AU 5 16070823 16070823 single base substitution G A intron_variant MELA-AU 5 16070860 16070860 single base substitution C T intron_variant MELA-AU 5 16070928 16070928 single base substitution G A intron_variant MELA-AU 5 16071059 16071059 single base substitution C T intron_variant MELA-AU 5 16071069 16071069 single base substitution C T intron_variant MELA-AU 5 16071171 16071171 single base substitution G A intron_variant MELA-AU 5 16071189 16071189 single base substitution C T intron_variant MELA-AU 5 16071241 16071241 single base substitution T C intron_variant MELA-AU 5 16071318 16071318 single base substitution G A intron_variant MELA-AU 5 16071465 16071465 single base substitution C T intron_variant MELA-AU 5 16071541 16071541 single base substitution C T intron_variant MELA-AU 5 16071655 16071655 single base substitution G A intron_variant MELA-AU 5 16071852 16071852 single base substitution T A intron_variant MELA-AU 5 16071882 16071882 single base substitution C T intron_variant MELA-AU 5 16072011 16072011 single base substitution C T intron_variant MELA-AU 5 16072099 16072099 single base substitution C T intron_variant MELA-AU 5 16072132 16072132 single base substitution G A intron_variant MELA-AU 5 16072160 16072160 single base substitution C T intron_variant MELA-AU 5 16072230 16072230 single base substitution T A intron_variant MELA-AU 5 16072259 16072259 single base substitution C T intron_variant MELA-AU 5 16072361 16072361 single base substitution C T intron_variant MELA-AU 5 16072454 16072454 single base substitution G A intron_variant MELA-AU 5 16072563 16072563 single base substitution G A intron_variant MELA-AU 5 16072583 16072583 single base substitution A T intron_variant MELA-AU 5 16072591 16072591 single base substitution G A intron_variant MELA-AU 5 16072697 16072697 single base substitution G A intron_variant MELA-AU 5 16072752 16072752 single base substitution G T intron_variant MELA-AU 5 16072789 16072789 single base substitution C T intron_variant MELA-AU 5 16072867 16072867 single base substitution C T intron_variant MELA-AU 5 16072898 16072898 single base substitution C T intron_variant MELA-AU 5 16072932 16072932 single base substitution C T intron_variant MELA-AU 5 16072974 16072974 single base substitution G A intron_variant MELA-AU 5 16073123 16073123 single base substitution T G intron_variant MELA-AU 5 16073229 16073229 single base substitution G A intron_variant MELA-AU 5 16073261 16073261 single base substitution C T intron_variant MELA-AU 5 16073372 16073372 single base substitution G A intron_variant MELA-AU 5 16073383 16073383 single base substitution C T intron_variant MELA-AU 5 16073525 16073525 single base substitution G A intron_variant MELA-AU 5 16073786 16073786 single base substitution C T intron_variant MELA-AU 5 16073788 16073788 single base substitution G A intron_variant MELA-AU 5 16073808 16073808 single base substitution C T intron_variant MELA-AU 5 16073855 16073855 single base substitution C T intron_variant MELA-AU 5 16073874 16073874 single base substitution G A intron_variant MELA-AU 5 16073913 16073913 single base substitution A G intron_variant MELA-AU 5 16074144 16074144 single base substitution G A intron_variant MELA-AU 5 16074200 16074200 single base substitution C T intron_variant MELA-AU 5 16074206 16074206 single base substitution G A intron_variant MELA-AU 5 16074233 16074233 single base substitution G A intron_variant MELA-AU 5 16074287 16074287 single base substitution C T intron_variant MELA-AU 5 16074373 16074373 single base substitution G A intron_variant MELA-AU 5 16074611 16074611 single base substitution G A intron_variant MELA-AU 5 16074778 16074778 single base substitution G A intron_variant MELA-AU 5 16074818 16074818 single base substitution G A intron_variant MELA-AU 5 16074828 16074828 single base substitution G A intron_variant MELA-AU 5 16074949 16074949 single base substitution G A intron_variant MELA-AU 5 16074955 16074955 single base substitution C T intron_variant MELA-AU 5 16074978 16074978 single base substitution C T intron_variant MELA-AU 5 16074981 16074981 single base substitution G A intron_variant MELA-AU 5 16075034 16075034 single base substitution C T intron_variant MELA-AU 5 16075062 16075062 single base substitution C T intron_variant MELA-AU 5 16075079 16075079 single base substitution G A intron_variant MELA-AU 5 16075272 16075272 single base substitution C T intron_variant MELA-AU 5 16075273 16075273 single base substitution C T intron_variant MELA-AU 5 16075390 16075390 single base substitution C T intron_variant MELA-AU 5 16075421 16075421 single base substitution G A intron_variant MELA-AU 5 16075448 16075448 single base substitution G A intron_variant MELA-AU 5 16075516 16075516 single base substitution C T intron_variant MELA-AU 5 16075543 16075543 single base substitution C T intron_variant MELA-AU 5 16075564 16075564 single base substitution G A intron_variant MELA-AU 5 16075586 16075586 single base substitution C T intron_variant MELA-AU 5 16075684 16075684 single base substitution C T intron_variant MELA-AU 5 16075696 16075696 single base substitution G A intron_variant MELA-AU 5 16075797 16075797 single base substitution G A intron_variant MELA-AU 5 16075905 16075905 single base substitution C T intron_variant MELA-AU 5 16075943 16075943 single base substitution G A intron_variant MELA-AU 5 16076034 16076034 single base substitution A G intron_variant MELA-AU 5 16076114 16076114 single base substitution C T intron_variant MELA-AU 5 16076267 16076267 single base substitution C T intron_variant MELA-AU 5 16076321 16076321 single base substitution C T intron_variant MELA-AU 5 16076417 16076417 single base substitution G A intron_variant MELA-AU 5 16076418 16076418 single base substitution G A intron_variant MELA-AU 5 16076458 16076458 single base substitution C T intron_variant MELA-AU 5 16076499 16076499 single base substitution G A intron_variant MELA-AU 5 16076519 16076519 single base substitution G A intron_variant MELA-AU 5 16076574 16076574 single base substitution C T intron_variant MELA-AU 5 16076601 16076601 single base substitution G A intron_variant MELA-AU 5 16076649 16076649 single base substitution C A intron_variant MELA-AU 5 16076673 16076673 single base substitution C T intron_variant MELA-AU 5 16076715 16076715 single base substitution A G intron_variant MELA-AU 5 16076979 16076979 single base substitution C T intron_variant MELA-AU 5 16076990 16076990 single base substitution G A intron_variant MELA-AU 5 16077005 16077005 single base substitution C T intron_variant MELA-AU 5 16077064 16077064 single base substitution C T intron_variant MELA-AU 5 16077176 16077176 single base substitution G A intron_variant MELA-AU 5 16077201 16077201 single base substitution G T intron_variant MELA-AU 5 16077209 16077209 single base substitution G A intron_variant MELA-AU 5 16077232 16077232 single base substitution G A intron_variant MELA-AU 5 16077406 16077406 single base substitution A T intron_variant MELA-AU 5 16077477 16077477 single base substitution G A intron_variant MELA-AU 5 16077491 16077491 single base substitution T A intron_variant MELA-AU 5 16077516 16077516 single base substitution T C intron_variant MELA-AU 5 16077536 16077536 single base substitution G A intron_variant MELA-AU 5 16077780 16077780 single base substitution A C intron_variant MELA-AU 5 16077790 16077790 single base substitution A G intron_variant MELA-AU 5 16077840 16077840 single base substitution A C intron_variant MELA-AU 5 16077922 16077922 single base substitution G A intron_variant MELA-AU 5 16077975 16077975 single base substitution T C intron_variant MELA-AU 5 16078026 16078026 single base substitution G A intron_variant MELA-AU 5 16078046 16078046 single base substitution G A intron_variant MELA-AU 5 16078183 16078183 single base substitution C T intron_variant MELA-AU 5 16078333 16078333 single base substitution G A intron_variant MELA-AU 5 16078340 16078340 single base substitution G A intron_variant MELA-AU 5 16078342 16078342 single base substitution G A intron_variant MELA-AU 5 16078398 16078398 single base substitution C T intron_variant MELA-AU 5 16078420 16078420 single base substitution G A intron_variant MELA-AU 5 16078530 16078530 single base substitution T G intron_variant MELA-AU 5 16078601 16078601 single base substitution C T intron_variant MELA-AU 5 16078663 16078663 single base substitution G A intron_variant MELA-AU 5 16078791 16078791 single base substitution C T intron_variant MELA-AU 5 16078805 16078805 single base substitution G A intron_variant MELA-AU 5 16078808 16078808 single base substitution C T intron_variant MELA-AU 5 16078838 16078838 single base substitution G A intron_variant MELA-AU 5 16078965 16078965 single base substitution C T intron_variant MELA-AU 5 16078971 16078971 single base substitution G A intron_variant MELA-AU 5 16079041 16079041 single base substitution C T intron_variant MELA-AU 5 16079112 16079112 single base substitution G A intron_variant MELA-AU 5 16079123 16079124 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 16079164 16079164 single base substitution G A intron_variant MELA-AU 5 16079188 16079188 single base substitution C T intron_variant MELA-AU 5 16079203 16079203 single base substitution C T intron_variant MELA-AU 5 16079210 16079210 single base substitution G A intron_variant MELA-AU 5 16079219 16079219 single base substitution G A intron_variant MELA-AU 5 16079310 16079310 single base substitution C T intron_variant MELA-AU 5 16079313 16079313 single base substitution G A intron_variant MELA-AU 5 16079345 16079345 single base substitution C T intron_variant MELA-AU 5 16079350 16079350 single base substitution C T intron_variant MELA-AU 5 16079365 16079365 single base substitution C T intron_variant MELA-AU 5 16079389 16079389 single base substitution C T intron_variant MELA-AU 5 16079438 16079438 single base substitution C T intron_variant MELA-AU 5 16079449 16079449 single base substitution G A intron_variant MELA-AU 5 16079533 16079533 single base substitution C T intron_variant MELA-AU 5 16079545 16079545 single base substitution G A intron_variant MELA-AU 5 16079573 16079573 single base substitution C T intron_variant MELA-AU 5 16079610 16079611 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 5 16079631 16079631 single base substitution C T intron_variant MELA-AU 5 16079655 16079655 single base substitution C T intron_variant MELA-AU 5 16079714 16079715 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 16079721 16079721 single base substitution G A intron_variant MELA-AU 5 16079737 16079737 single base substitution C T intron_variant MELA-AU 5 16079754 16079754 single base substitution G A intron_variant MELA-AU 5 16079770 16079770 single base substitution C T intron_variant MELA-AU 5 16079771 16079771 single base substitution C T intron_variant MELA-AU 5 16079897 16079897 single base substitution G A intron_variant MELA-AU 5 16079961 16079961 single base substitution C T intron_variant MELA-AU 5 16079976 16079976 single base substitution G A intron_variant MELA-AU 5 16080004 16080004 single base substitution C T intron_variant MELA-AU 5 16080021 16080021 single base substitution C T intron_variant MELA-AU 5 16080029 16080029 single base substitution C T intron_variant MELA-AU 5 16080038 16080039 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 16080039 16080039 single base substitution G A intron_variant MELA-AU 5 16080104 16080104 single base substitution C T intron_variant MELA-AU 5 16080165 16080165 single base substitution G A intron_variant MELA-AU 5 16080170 16080170 single base substitution C T intron_variant MELA-AU 5 16080251 16080251 single base substitution C A intron_variant MELA-AU 5 16080285 16080285 single base substitution C T intron_variant MELA-AU 5 16080407 16080407 single base substitution C T intron_variant MELA-AU 5 16080412 16080412 single base substitution C T intron_variant MELA-AU 5 16080436 16080436 single base substitution C T intron_variant MELA-AU 5 16080441 16080441 single base substitution C T intron_variant MELA-AU 5 16080458 16080458 single base substitution C T intron_variant MELA-AU 5 16080499 16080499 single base substitution C T intron_variant MELA-AU 5 16080555 16080555 single base substitution C T intron_variant MELA-AU 5 16080563 16080563 single base substitution C T intron_variant MELA-AU 5 16080568 16080568 single base substitution C T intron_variant MELA-AU 5 16080618 16080618 single base substitution C T intron_variant MELA-AU 5 16080684 16080684 single base substitution C T intron_variant MELA-AU 5 16080747 16080747 single base substitution T C intron_variant MELA-AU 5 16080787 16080787 single base substitution C G intron_variant MELA-AU 5 16080807 16080807 single base substitution C T intron_variant MELA-AU 5 16080816 16080816 single base substitution C T intron_variant MELA-AU 5 16080904 16080904 single base substitution T A intron_variant MELA-AU 5 16080919 16080919 single base substitution C T intron_variant MELA-AU 5 16080932 16080932 single base substitution C T intron_variant MELA-AU 5 16080951 16080951 single base substitution C T intron_variant MELA-AU 5 16080995 16080995 single base substitution G A intron_variant MELA-AU 5 16081005 16081005 single base substitution G A intron_variant MELA-AU 5 16081204 16081204 single base substitution C T intron_variant MELA-AU 5 16081351 16081351 single base substitution G A intron_variant MELA-AU 5 16081486 16081486 single base substitution C T intron_variant MELA-AU 5 16081487 16081487 single base substitution C T intron_variant MELA-AU 5 16081606 16081606 single base substitution C T intron_variant MELA-AU 5 16081684 16081684 single base substitution C T intron_variant MELA-AU 5 16081739 16081739 single base substitution C T intron_variant MELA-AU 5 16081825 16081825 single base substitution G A intron_variant MELA-AU 5 16081882 16081882 single base substitution C T intron_variant MELA-AU 5 16081964 16081964 single base substitution G A intron_variant MELA-AU 5 16081989 16081989 single base substitution C T intron_variant MELA-AU 5 16082006 16082006 single base substitution G A intron_variant MELA-AU 5 16082044 16082044 single base substitution C T intron_variant MELA-AU 5 16082044 16082045 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 16082165 16082165 single base substitution G A intron_variant MELA-AU 5 16082204 16082204 single base substitution G A intron_variant MELA-AU 5 16082234 16082234 single base substitution C T intron_variant MELA-AU 5 16082246 16082246 single base substitution G A intron_variant MELA-AU 5 16082302 16082302 single base substitution G A intron_variant MELA-AU 5 16082479 16082479 single base substitution A T intron_variant MELA-AU 5 16082546 16082546 single base substitution G A intron_variant MELA-AU 5 16082607 16082607 single base substitution G A intron_variant MELA-AU 5 16082757 16082757 single base substitution C T intron_variant MELA-AU 5 16082775 16082775 single base substitution G A intron_variant MELA-AU 5 16082794 16082794 single base substitution G A intron_variant MELA-AU 5 16082795 16082795 single base substitution G A intron_variant MELA-AU 5 16082915 16082915 single base substitution G A intron_variant MELA-AU 5 16082941 16082941 single base substitution G A intron_variant MELA-AU 5 16083134 16083134 single base substitution G A intron_variant MELA-AU 5 16083199 16083199 single base substitution C T intron_variant MELA-AU 5 16083214 16083214 single base substitution G A intron_variant MELA-AU 5 16083300 16083300 single base substitution C T intron_variant MELA-AU 5 16083315 16083315 single base substitution A T intron_variant MELA-AU 5 16083346 16083346 single base substitution C T intron_variant MELA-AU 5 16083358 16083358 single base substitution G A intron_variant MELA-AU 5 16083489 16083489 single base substitution C T intron_variant MELA-AU 5 16083513 16083513 single base substitution C T intron_variant MELA-AU 5 16083549 16083549 single base substitution C T intron_variant MELA-AU 5 16083722 16083722 single base substitution C T intron_variant MELA-AU 5 16083744 16083744 single base substitution T A intron_variant MELA-AU 5 16083770 16083770 single base substitution G A intron_variant MELA-AU 5 16083775 16083775 single base substitution C T intron_variant MELA-AU 5 16083793 16083793 single base substitution C T intron_variant MELA-AU 5 16083834 16083834 single base substitution G A intron_variant MELA-AU 5 16083846 16083846 single base substitution A T intron_variant MELA-AU 5 16083941 16083941 single base substitution T A intron_variant MELA-AU 5 16084088 16084088 single base substitution C T intron_variant MELA-AU 5 16084152 16084152 single base substitution C T intron_variant MELA-AU 5 16084476 16084476 single base substitution G A intron_variant MELA-AU 5 16084499 16084499 single base substitution C T intron_variant MELA-AU 5 16084512 16084512 single base substitution G A intron_variant MELA-AU 5 16084656 16084656 single base substitution G A intron_variant MELA-AU 5 16084679 16084679 single base substitution G A intron_variant MELA-AU 5 16084770 16084770 single base substitution A T intron_variant MELA-AU 5 16084782 16084782 single base substitution G A intron_variant MELA-AU 5 16084803 16084803 single base substitution C T intron_variant MELA-AU 5 16084962 16084962 single base substitution C T intron_variant MELA-AU 5 16085022 16085022 single base substitution C T intron_variant MELA-AU 5 16085081 16085081 single base substitution G A intron_variant MELA-AU 5 16085143 16085143 single base substitution C T intron_variant MELA-AU 5 16085241 16085241 single base substitution C T intron_variant MELA-AU 5 16085333 16085333 single base substitution C T intron_variant MELA-AU 5 16085342 16085342 single base substitution C T intron_variant MELA-AU 5 16085457 16085457 single base substitution G A intron_variant MELA-AU 5 16085579 16085579 single base substitution G A intron_variant MELA-AU 5 16085666 16085666 single base substitution G A intron_variant MELA-AU 5 16085745 16085745 single base substitution A C intron_variant MELA-AU 5 16085750 16085750 single base substitution C T intron_variant MELA-AU 5 16085837 16085837 single base substitution G A intron_variant MELA-AU 5 16085844 16085844 single base substitution G A intron_variant MELA-AU 5 16085857 16085857 single base substitution C T intron_variant MELA-AU 5 16085863 16085863 single base substitution C T intron_variant MELA-AU 5 16085993 16085993 single base substitution G A intron_variant MELA-AU 5 16086025 16086025 single base substitution G A downstream_gene_variant MELA-AU 5 16086025 16086025 single base substitution G A intron_variant MELA-AU 5 16086034 16086034 single base substitution G A downstream_gene_variant MELA-AU 5 16086034 16086034 single base substitution G A intron_variant MELA-AU 5 16086152 16086152 single base substitution G A downstream_gene_variant MELA-AU 5 16086152 16086152 single base substitution G A intron_variant MELA-AU 5 16086172 16086172 single base substitution C T downstream_gene_variant MELA-AU 5 16086172 16086172 single base substitution C T intron_variant MELA-AU 5 16086207 16086207 single base substitution C T downstream_gene_variant MELA-AU 5 16086207 16086207 single base substitution C T intron_variant MELA-AU 5 16086257 16086257 single base substitution G A downstream_gene_variant MELA-AU 5 16086257 16086257 single base substitution G A intron_variant MELA-AU 5 16086277 16086277 single base substitution C T downstream_gene_variant MELA-AU 5 16086277 16086277 single base substitution C T intron_variant MELA-AU 5 16086304 16086304 single base substitution A G downstream_gene_variant MELA-AU 5 16086304 16086304 single base substitution A G intron_variant MELA-AU 5 16086380 16086380 single base substitution G A downstream_gene_variant MELA-AU 5 16086380 16086380 single base substitution G A intron_variant MELA-AU 5 16086448 16086448 single base substitution G A downstream_gene_variant MELA-AU 5 16086448 16086448 single base substitution G A intron_variant MELA-AU 5 16086484 16086484 single base substitution T G downstream_gene_variant MELA-AU 5 16086484 16086484 single base substitution T G intron_variant MELA-AU 5 16086495 16086495 single base substitution C T downstream_gene_variant MELA-AU 5 16086495 16086495 single base substitution C T intron_variant MELA-AU 5 16086651 16086651 single base substitution G A downstream_gene_variant MELA-AU 5 16086651 16086651 single base substitution G A intron_variant MELA-AU 5 16086825 16086825 single base substitution C T downstream_gene_variant MELA-AU 5 16086825 16086825 single base substitution C T intron_variant MELA-AU 5 16087024 16087024 single base substitution C T downstream_gene_variant MELA-AU 5 16087024 16087024 single base substitution C T intron_variant MELA-AU 5 16087161 16087161 single base substitution C T downstream_gene_variant MELA-AU 5 16087161 16087161 single base substitution C T intron_variant MELA-AU 5 16087251 16087251 single base substitution C T downstream_gene_variant MELA-AU 5 16087251 16087251 single base substitution C T intron_variant MELA-AU 5 16087253 16087253 single base substitution C T downstream_gene_variant MELA-AU 5 16087253 16087253 single base substitution C T intron_variant MELA-AU 5 16087269 16087269 single base substitution C T downstream_gene_variant MELA-AU 5 16087269 16087269 single base substitution C T intron_variant MELA-AU 5 16087303 16087303 single base substitution G A downstream_gene_variant MELA-AU 5 16087303 16087303 single base substitution G A intron_variant MELA-AU 5 16087491 16087491 single base substitution C T downstream_gene_variant MELA-AU 5 16087491 16087491 single base substitution C T intron_variant MELA-AU 5 16087505 16087505 single base substitution G A downstream_gene_variant MELA-AU 5 16087505 16087505 single base substitution G A intron_variant MELA-AU 5 16087617 16087617 single base substitution G A downstream_gene_variant MELA-AU 5 16087617 16087617 single base substitution G A intron_variant MELA-AU 5 16087692 16087692 single base substitution G A downstream_gene_variant MELA-AU 5 16087692 16087692 single base substitution G A intron_variant MELA-AU 5 16087852 16087852 single base substitution G A downstream_gene_variant MELA-AU 5 16087852 16087852 single base substitution G A intron_variant MELA-AU 5 16087859 16087859 single base substitution G A downstream_gene_variant MELA-AU 5 16087859 16087859 single base substitution G A intron_variant MELA-AU 5 16088045 16088045 single base substitution G A downstream_gene_variant MELA-AU 5 16088045 16088045 single base substitution G A intron_variant MELA-AU 5 16088122 16088122 single base substitution G A downstream_gene_variant MELA-AU 5 16088122 16088122 single base substitution G A intron_variant MELA-AU 5 16088123 16088123 single base substitution G A downstream_gene_variant MELA-AU 5 16088123 16088123 single base substitution G A intron_variant MELA-AU 5 16088160 16088160 single base substitution T A downstream_gene_variant MELA-AU 5 16088160 16088160 single base substitution T A intron_variant MELA-AU 5 16088248 16088248 single base substitution C T downstream_gene_variant MELA-AU 5 16088248 16088248 single base substitution C T intron_variant MELA-AU 5 16088279 16088279 single base substitution C T downstream_gene_variant MELA-AU 5 16088279 16088279 single base substitution C T intron_variant MELA-AU 5 16088298 16088298 single base substitution C T downstream_gene_variant MELA-AU 5 16088298 16088298 single base substitution C T intron_variant MELA-AU 5 16088351 16088351 single base substitution C T downstream_gene_variant MELA-AU 5 16088351 16088351 single base substitution C T intron_variant MELA-AU 5 16088390 16088390 single base substitution C T downstream_gene_variant MELA-AU 5 16088390 16088390 single base substitution C T intron_variant MELA-AU 5 16088408 16088408 single base substitution G A downstream_gene_variant MELA-AU 5 16088408 16088408 single base substitution G A intron_variant MELA-AU 5 16088501 16088501 single base substitution C T downstream_gene_variant MELA-AU 5 16088501 16088501 single base substitution C T intron_variant MELA-AU 5 16088505 16088505 single base substitution G A downstream_gene_variant MELA-AU 5 16088505 16088505 single base substitution G A intron_variant MELA-AU 5 16088587 16088587 single base substitution C T downstream_gene_variant MELA-AU 5 16088587 16088587 single base substitution C T intron_variant MELA-AU 5 16088606 16088606 single base substitution G A downstream_gene_variant MELA-AU 5 16088606 16088606 single base substitution G A intron_variant MELA-AU 5 16088700 16088700 single base substitution C T downstream_gene_variant MELA-AU 5 16088700 16088700 single base substitution C T intron_variant MELA-AU 5 16088768 16088768 single base substitution G A downstream_gene_variant MELA-AU 5 16088768 16088768 single base substitution G A intron_variant MELA-AU 5 16088812 16088812 single base substitution G A downstream_gene_variant MELA-AU 5 16088812 16088812 single base substitution G A intron_variant MELA-AU 5 16088846 16088846 single base substitution G A downstream_gene_variant MELA-AU 5 16088846 16088846 single base substitution G A intron_variant MELA-AU 5 16088890 16088890 single base substitution G A downstream_gene_variant MELA-AU 5 16088890 16088890 single base substitution G A intron_variant MELA-AU 5 16088983 16088983 single base substitution G A downstream_gene_variant MELA-AU 5 16088983 16088983 single base substitution G A intron_variant MELA-AU 5 16089049 16089049 single base substitution C T downstream_gene_variant MELA-AU 5 16089049 16089049 single base substitution C T intron_variant MELA-AU 5 16089086 16089086 single base substitution G A downstream_gene_variant MELA-AU 5 16089086 16089086 single base substitution G A intron_variant MELA-AU 5 16089106 16089106 single base substitution C T downstream_gene_variant MELA-AU 5 16089106 16089106 single base substitution C T intron_variant MELA-AU 5 16089235 16089235 single base substitution G A downstream_gene_variant MELA-AU 5 16089235 16089235 single base substitution G A intron_variant MELA-AU 5 16089296 16089296 single base substitution C T downstream_gene_variant MELA-AU 5 16089296 16089296 single base substitution C T intron_variant MELA-AU 5 16089333 16089333 single base substitution A G downstream_gene_variant MELA-AU 5 16089333 16089333 single base substitution A G intron_variant MELA-AU 5 16089344 16089344 single base substitution C T downstream_gene_variant MELA-AU 5 16089344 16089344 single base substitution C T intron_variant MELA-AU 5 16089427 16089427 single base substitution G A downstream_gene_variant MELA-AU 5 16089427 16089427 single base substitution G A intron_variant MELA-AU 5 16089483 16089483 single base substitution G A downstream_gene_variant MELA-AU 5 16089483 16089483 single base substitution G A intron_variant MELA-AU 5 16089701 16089701 single base substitution A G downstream_gene_variant MELA-AU 5 16089701 16089701 single base substitution A G intron_variant MELA-AU 5 16089924 16089924 single base substitution C T downstream_gene_variant MELA-AU 5 16089924 16089924 single base substitution C T intron_variant MELA-AU 5 16089932 16089932 single base substitution C T downstream_gene_variant MELA-AU 5 16089932 16089932 single base substitution C T intron_variant MELA-AU 5 16089933 16089933 single base substitution C T downstream_gene_variant MELA-AU 5 16089933 16089933 single base substitution C T intron_variant MELA-AU 5 16089951 16089951 single base substitution G A downstream_gene_variant MELA-AU 5 16089951 16089951 single base substitution G A intron_variant MELA-AU 5 16089963 16089963 single base substitution C T downstream_gene_variant MELA-AU 5 16089963 16089963 single base substitution C T intron_variant MELA-AU 5 16090057 16090057 single base substitution C T downstream_gene_variant MELA-AU 5 16090057 16090057 single base substitution C T intron_variant MELA-AU 5 16090166 16090166 single base substitution C T downstream_gene_variant MELA-AU 5 16090166 16090166 single base substitution C T intron_variant MELA-AU 5 16090219 16090219 single base substitution G A downstream_gene_variant MELA-AU 5 16090219 16090219 single base substitution G A intron_variant MELA-AU 5 16090336 16090336 single base substitution G A downstream_gene_variant MELA-AU 5 16090336 16090336 single base substitution G A intron_variant MELA-AU 5 16090447 16090447 single base substitution C T downstream_gene_variant MELA-AU 5 16090447 16090447 single base substitution C T intron_variant MELA-AU 5 16090499 16090499 single base substitution G A downstream_gene_variant MELA-AU 5 16090499 16090499 single base substitution G A intron_variant MELA-AU 5 16090507 16090507 single base substitution T C downstream_gene_variant MELA-AU 5 16090507 16090507 single base substitution T C intron_variant MELA-AU 5 16090530 16090530 single base substitution G A downstream_gene_variant MELA-AU 5 16090530 16090530 single base substitution G A intron_variant MELA-AU 5 16090535 16090535 single base substitution C T downstream_gene_variant MELA-AU 5 16090535 16090535 single base substitution C T intron_variant MELA-AU 5 16090541 16090541 single base substitution C T downstream_gene_variant MELA-AU 5 16090541 16090541 single base substitution C T intron_variant MELA-AU 5 16090583 16090583 single base substitution C T downstream_gene_variant MELA-AU 5 16090583 16090583 single base substitution C T intron_variant MELA-AU 5 16090662 16090662 single base substitution G A downstream_gene_variant MELA-AU 5 16090662 16090662 single base substitution G A intron_variant MELA-AU 5 16090663 16090663 single base substitution G A downstream_gene_variant MELA-AU 5 16090663 16090663 single base substitution G A intron_variant MELA-AU 5 16090711 16090711 single base substitution C T downstream_gene_variant MELA-AU 5 16090711 16090711 single base substitution C T intron_variant MELA-AU 5 16090788 16090788 single base substitution C T downstream_gene_variant MELA-AU 5 16090788 16090788 single base substitution C T intron_variant MELA-AU 5 16090789 16090789 single base substitution C T downstream_gene_variant MELA-AU 5 16090789 16090789 single base substitution C T intron_variant MELA-AU 5 16090816 16090816 single base substitution G A downstream_gene_variant MELA-AU 5 16090816 16090816 single base substitution G A intron_variant MELA-AU 5 16090902 16090902 single base substitution C T downstream_gene_variant MELA-AU 5 16090902 16090902 single base substitution C T intron_variant MELA-AU 5 16090929 16090929 single base substitution G A downstream_gene_variant MELA-AU 5 16090929 16090929 single base substitution G A intron_variant MELA-AU 5 16091050 16091050 single base substitution G A exon_variant MELA-AU 5 16091050 16091050 single base substitution G A intron_variant MELA-AU 5 16091050 16091050 single base substitution G A synonymous_variant I278I 834C>T MELA-AU 5 16091098 16091098 single base substitution G A exon_variant MELA-AU 5 16091098 16091098 single base substitution G A intron_variant MELA-AU 5 16091098 16091098 single base substitution G A synonymous_variant L262L 786C>T MELA-AU 5 16091132 16091132 single base substitution C T exon_variant MELA-AU 5 16091132 16091132 single base substitution C T intron_variant MELA-AU 5 16091132 16091132 single base substitution C T missense_variant G251E 752G>A MELA-AU 5 16091137 16091137 single base substitution G A exon_variant MELA-AU 5 16091137 16091137 single base substitution G A intron_variant MELA-AU 5 16091137 16091137 single base substitution G A synonymous_variant I249I 747C>T MELA-AU 5 16091177 16091177 single base substitution G A exon_variant MELA-AU 5 16091177 16091177 single base substitution G A intron_variant MELA-AU 5 16091177 16091177 single base substitution G A missense_variant S236F 707C>T MELA-AU 5 16091258 16091258 single base substitution C T intron_variant MELA-AU 5 16091325 16091325 single base substitution C T intron_variant MELA-AU 5 16091466 16091466 single base substitution G A intron_variant MELA-AU 5 16091605 16091605 single base substitution G A intron_variant MELA-AU 5 16091922 16091922 single base substitution G A intron_variant MELA-AU 5 16091949 16091949 single base substitution C T intron_variant MELA-AU 5 16091950 16091950 single base substitution C T intron_variant MELA-AU 5 16092067 16092067 single base substitution A C intron_variant MELA-AU 5 16092091 16092091 single base substitution C T intron_variant MELA-AU 5 16092127 16092127 single base substitution C T intron_variant MELA-AU 5 16092196 16092196 single base substitution C T intron_variant MELA-AU 5 16092203 16092203 single base substitution G A intron_variant MELA-AU 5 16092214 16092214 single base substitution C T intron_variant MELA-AU 5 16092283 16092283 single base substitution C T intron_variant MELA-AU 5 16092364 16092364 single base substitution T G intron_variant MELA-AU 5 16092534 16092534 single base substitution G A intron_variant MELA-AU 5 16092600 16092600 single base substitution G A intron_variant MELA-AU 5 16092701 16092701 single base substitution G A intron_variant MELA-AU 5 16092924 16092924 single base substitution C T intron_variant MELA-AU 5 16092998 16092998 single base substitution C T intron_variant MELA-AU 5 16093045 16093045 single base substitution G A intron_variant MELA-AU 5 16093131 16093131 single base substitution C T intron_variant MELA-AU 5 16093158 16093158 single base substitution A T intron_variant MELA-AU 5 16093243 16093243 single base substitution G A intron_variant MELA-AU 5 16093293 16093293 single base substitution G A intron_variant MELA-AU 5 16093515 16093515 single base substitution C T intron_variant MELA-AU 5 16093624 16093624 single base substitution G A intron_variant MELA-AU 5 16093689 16093689 single base substitution C T intron_variant MELA-AU 5 16093698 16093698 single base substitution G A intron_variant MELA-AU 5 16093848 16093848 single base substitution T C intron_variant MELA-AU 5 16093872 16093872 single base substitution G A intron_variant MELA-AU 5 16093881 16093881 single base substitution A G intron_variant MELA-AU 5 16093959 16093959 single base substitution G A intron_variant MELA-AU 5 16093971 16093971 single base substitution G A intron_variant MELA-AU 5 16094207 16094207 single base substitution G A intron_variant MELA-AU 5 16094209 16094209 single base substitution A C intron_variant MELA-AU 5 16094214 16094214 single base substitution C T intron_variant MELA-AU 5 16094294 16094294 single base substitution A C intron_variant MELA-AU 5 16094314 16094314 single base substitution C T intron_variant MELA-AU 5 16094351 16094351 single base substitution G A intron_variant MELA-AU 5 16094442 16094442 single base substitution C T intron_variant MELA-AU 5 16094485 16094485 single base substitution T A intron_variant MELA-AU 5 16094521 16094521 single base substitution C T intron_variant MELA-AU 5 16094605 16094605 single base substitution G A intron_variant MELA-AU 5 16094690 16094690 single base substitution A T intron_variant MELA-AU 5 16094843 16094843 single base substitution G T intron_variant MELA-AU 5 16094869 16094869 single base substitution G A intron_variant MELA-AU 5 16094926 16094926 single base substitution A T intron_variant MELA-AU 5 16095394 16095394 single base substitution G A intron_variant MELA-AU 5 16095396 16095396 single base substitution G A intron_variant MELA-AU 5 16095402 16095402 single base substitution C T intron_variant MELA-AU 5 16095418 16095418 single base substitution G A intron_variant MELA-AU 5 16095449 16095449 single base substitution C T intron_variant MELA-AU 5 16095505 16095505 single base substitution T A intron_variant MELA-AU 5 16095516 16095516 single base substitution G A intron_variant MELA-AU 5 16095526 16095526 single base substitution G A intron_variant MELA-AU 5 16095586 16095586 single base substitution G A intron_variant MELA-AU 5 16095680 16095680 single base substitution C T intron_variant MELA-AU 5 16095787 16095787 single base substitution G A intron_variant MELA-AU 5 16095822 16095822 single base substitution G A intron_variant MELA-AU 5 16095829 16095829 single base substitution C T intron_variant MELA-AU 5 16095927 16095927 single base substitution C T intron_variant MELA-AU 5 16095942 16095942 single base substitution T A intron_variant MELA-AU 5 16096015 16096015 single base substitution G A intron_variant MELA-AU 5 16096210 16096210 single base substitution C T intron_variant MELA-AU 5 16096215 16096215 single base substitution C T intron_variant MELA-AU 5 16096258 16096258 single base substitution C T intron_variant MELA-AU 5 16096404 16096404 single base substitution G A intron_variant MELA-AU 5 16096444 16096444 single base substitution G A intron_variant MELA-AU 5 16096455 16096456 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 16096456 16096456 single base substitution G A intron_variant MELA-AU 5 16096465 16096465 single base substitution C T intron_variant MELA-AU 5 16096490 16096490 single base substitution G A intron_variant MELA-AU 5 16096655 16096655 single base substitution C T intron_variant MELA-AU 5 16096702 16096702 single base substitution G A intron_variant MELA-AU 5 16096746 16096746 deletion of <=200bp T - intron_variant MELA-AU 5 16096791 16096791 single base substitution G A intron_variant MELA-AU 5 16096925 16096925 single base substitution A G intron_variant MELA-AU 5 16096976 16096976 single base substitution G A intron_variant MELA-AU 5 16096986 16096986 single base substitution C T intron_variant MELA-AU 5 16097025 16097025 single base substitution G A intron_variant MELA-AU 5 16097225 16097225 single base substitution C T intron_variant MELA-AU 5 16097228 16097228 single base substitution C T intron_variant MELA-AU 5 16097239 16097239 single base substitution G A intron_variant MELA-AU 5 16097425 16097425 single base substitution G A intron_variant MELA-AU 5 16097431 16097431 single base substitution C T intron_variant MELA-AU 5 16097471 16097471 single base substitution C T intron_variant MELA-AU 5 16097510 16097510 single base substitution G A intron_variant MELA-AU 5 16097534 16097534 single base substitution G A intron_variant MELA-AU 5 16097578 16097578 single base substitution A G intron_variant MELA-AU 5 16097582 16097582 single base substitution C T intron_variant MELA-AU 5 16097692 16097692 single base substitution C T intron_variant MELA-AU 5 16097706 16097706 single base substitution G A intron_variant MELA-AU 5 16097720 16097720 single base substitution C T intron_variant MELA-AU 5 16097753 16097753 single base substitution G A intron_variant MELA-AU 5 16097774 16097774 single base substitution A G intron_variant MELA-AU 5 16097862 16097862 single base substitution A C intron_variant MELA-AU 5 16097864 16097864 single base substitution G A intron_variant MELA-AU 5 16097900 16097900 single base substitution C T intron_variant MELA-AU 5 16097925 16097925 single base substitution G A intron_variant MELA-AU 5 16098040 16098040 single base substitution G A intron_variant MELA-AU 5 16098046 16098046 single base substitution C T intron_variant MELA-AU 5 16098068 16098068 single base substitution G A intron_variant MELA-AU 5 16098085 16098085 single base substitution A T intron_variant MELA-AU 5 16098215 16098215 single base substitution C T intron_variant MELA-AU 5 16098234 16098234 single base substitution C T intron_variant MELA-AU 5 16098266 16098266 single base substitution C T intron_variant MELA-AU 5 16098272 16098272 single base substitution C T intron_variant MELA-AU 5 16098301 16098301 single base substitution G A intron_variant MELA-AU 5 16098340 16098340 single base substitution C T intron_variant MELA-AU 5 16098367 16098367 single base substitution G A intron_variant MELA-AU 5 16098372 16098372 single base substitution T G intron_variant MELA-AU 5 16098392 16098392 single base substitution C A intron_variant MELA-AU 5 16098484 16098484 single base substitution C T intron_variant MELA-AU 5 16098559 16098559 single base substitution A T intron_variant MELA-AU 5 16098561 16098561 single base substitution G A intron_variant MELA-AU 5 16098604 16098604 single base substitution G A intron_variant MELA-AU 5 16098752 16098752 single base substitution C T intron_variant MELA-AU 5 16098760 16098760 single base substitution C T intron_variant MELA-AU 5 16098791 16098791 single base substitution C T intron_variant MELA-AU 5 16098892 16098892 single base substitution A G intron_variant MELA-AU 5 16098991 16098991 single base substitution C T intron_variant MELA-AU 5 16099108 16099108 single base substitution G A intron_variant MELA-AU 5 16099111 16099111 single base substitution C T intron_variant MELA-AU 5 16099128 16099128 single base substitution C T intron_variant MELA-AU 5 16099158 16099158 single base substitution C T intron_variant MELA-AU 5 16099240 16099240 single base substitution G A intron_variant MELA-AU 5 16099241 16099241 single base substitution A G intron_variant MELA-AU 5 16099413 16099413 single base substitution G A intron_variant MELA-AU 5 16099526 16099526 single base substitution G A intron_variant MELA-AU 5 16099547 16099547 single base substitution C T intron_variant MELA-AU 5 16099619 16099619 single base substitution C T intron_variant MELA-AU 5 16099777 16099777 single base substitution C T intron_variant MELA-AU 5 16099786 16099786 single base substitution C T intron_variant MELA-AU 5 16099832 16099832 single base substitution A T intron_variant MELA-AU 5 16099849 16099849 single base substitution C T intron_variant MELA-AU 5 16099856 16099856 single base substitution T C intron_variant MELA-AU 5 16099870 16099870 single base substitution C T intron_variant MELA-AU 5 16099873 16099873 single base substitution T C intron_variant MELA-AU 5 16099971 16099971 single base substitution C T intron_variant MELA-AU 5 16099979 16099979 single base substitution G A intron_variant MELA-AU 5 16099986 16099986 single base substitution A T intron_variant MELA-AU 5 16099989 16099989 single base substitution G A intron_variant MELA-AU 5 16100004 16100004 single base substitution G A intron_variant MELA-AU 5 16100027 16100027 single base substitution G A intron_variant MELA-AU 5 16100057 16100057 single base substitution G A intron_variant MELA-AU 5 16100098 16100098 single base substitution G A intron_variant MELA-AU 5 16100175 16100175 single base substitution G A intron_variant MELA-AU 5 16100182 16100182 single base substitution A G intron_variant MELA-AU 5 16100187 16100187 single base substitution C T intron_variant MELA-AU 5 16100194 16100194 single base substitution G A intron_variant MELA-AU 5 16100197 16100197 single base substitution G A intron_variant MELA-AU 5 16100268 16100268 single base substitution G A intron_variant MELA-AU 5 16100310 16100310 single base substitution G A intron_variant MELA-AU 5 16100344 16100344 single base substitution G A intron_variant MELA-AU 5 16100362 16100362 single base substitution C T intron_variant MELA-AU 5 16100375 16100375 single base substitution G A intron_variant MELA-AU 5 16100405 16100405 single base substitution G A intron_variant MELA-AU 5 16100552 16100552 single base substitution C T intron_variant MELA-AU 5 16100567 16100567 single base substitution G A intron_variant MELA-AU 5 16100592 16100592 single base substitution C T intron_variant MELA-AU 5 16100714 16100714 single base substitution C T intron_variant MELA-AU 5 16100723 16100723 single base substitution G A intron_variant MELA-AU 5 16100893 16100893 single base substitution G A intron_variant MELA-AU 5 16100916 16100916 single base substitution G C intron_variant MELA-AU 5 16101153 16101153 single base substitution G A intron_variant MELA-AU 5 16101205 16101205 single base substitution C T intron_variant MELA-AU 5 16101289 16101289 single base substitution C T intron_variant MELA-AU 5 16101439 16101439 single base substitution C T intron_variant MELA-AU 5 16101519 16101519 single base substitution A G intron_variant MELA-AU 5 16101535 16101535 single base substitution C T intron_variant MELA-AU 5 16101629 16101629 single base substitution G A intron_variant MELA-AU 5 16101806 16101806 single base substitution C T intron_variant MELA-AU 5 16101931 16101931 single base substitution G A intron_variant MELA-AU 5 16102033 16102033 single base substitution G A intron_variant MELA-AU 5 16102061 16102061 single base substitution G T intron_variant MELA-AU 5 16102080 16102080 single base substitution G A intron_variant MELA-AU 5 16102280 16102280 single base substitution C T intron_variant MELA-AU 5 16102420 16102420 single base substitution G A intron_variant MELA-AU 5 16102495 16102495 single base substitution C T intron_variant MELA-AU 5 16102554 16102554 single base substitution C T intron_variant MELA-AU 5 16102557 16102557 single base substitution C T intron_variant MELA-AU 5 16102645 16102645 single base substitution C A intron_variant MELA-AU 5 16102657 16102657 single base substitution G A intron_variant MELA-AU 5 16102707 16102707 single base substitution G A intron_variant MELA-AU 5 16102719 16102719 single base substitution C T intron_variant MELA-AU 5 16102720 16102720 single base substitution C T intron_variant MELA-AU 5 16102730 16102731 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 5 16102782 16102782 single base substitution C T intron_variant MELA-AU 5 16102821 16102821 single base substitution C T intron_variant MELA-AU 5 16102822 16102822 single base substitution C T intron_variant MELA-AU 5 16102834 16102834 single base substitution G A intron_variant MELA-AU 5 16102845 16102845 single base substitution C T intron_variant MELA-AU 5 16102925 16102925 single base substitution C T intron_variant MELA-AU 5 16103031 16103031 single base substitution C T intron_variant MELA-AU 5 16103035 16103035 single base substitution C T intron_variant MELA-AU 5 16103047 16103047 single base substitution G A intron_variant MELA-AU 5 16103060 16103060 single base substitution G A intron_variant MELA-AU 5 16103101 16103101 single base substitution G A intron_variant MELA-AU 5 16103162 16103162 single base substitution C T intron_variant MELA-AU 5 16103216 16103216 single base substitution G A intron_variant MELA-AU 5 16103258 16103258 single base substitution C T intron_variant MELA-AU 5 16103439 16103439 single base substitution G A intron_variant MELA-AU 5 16103459 16103459 single base substitution G A intron_variant MELA-AU 5 16103470 16103470 single base substitution G A intron_variant MELA-AU 5 16103534 16103534 single base substitution C T intron_variant MELA-AU 5 16103555 16103555 single base substitution C T intron_variant MELA-AU 5 16103564 16103564 single base substitution C T intron_variant MELA-AU 5 16103580 16103580 single base substitution G A intron_variant MELA-AU 5 16103664 16103664 single base substitution C T intron_variant MELA-AU 5 16103762 16103762 single base substitution C T intron_variant MELA-AU 5 16104045 16104045 single base substitution G A intron_variant MELA-AU 5 16104050 16104050 single base substitution C T intron_variant MELA-AU 5 16104154 16104154 single base substitution C T intron_variant MELA-AU 5 16104176 16104176 single base substitution G A intron_variant MELA-AU 5 16104191 16104191 single base substitution G A intron_variant MELA-AU 5 16104261 16104261 single base substitution C T intron_variant MELA-AU 5 16104307 16104307 single base substitution C G intron_variant MELA-AU 5 16104314 16104314 single base substitution C T intron_variant MELA-AU 5 16104341 16104341 single base substitution C T intron_variant MELA-AU 5 16104403 16104403 single base substitution C T intron_variant MELA-AU 5 16104471 16104471 single base substitution G A intron_variant MELA-AU 5 16104472 16104472 single base substitution G A intron_variant MELA-AU 5 16104483 16104483 single base substitution A T intron_variant MELA-AU 5 16104501 16104501 single base substitution G A intron_variant MELA-AU 5 16104518 16104518 single base substitution T C intron_variant MELA-AU 5 16104707 16104707 single base substitution G A intron_variant MELA-AU 5 16104763 16104763 single base substitution G A intron_variant MELA-AU 5 16104766 16104766 single base substitution A G intron_variant MELA-AU 5 16104773 16104773 single base substitution G A intron_variant MELA-AU 5 16104789 16104789 single base substitution C T intron_variant MELA-AU 5 16104838 16104838 single base substitution C T intron_variant MELA-AU 5 16104875 16104875 single base substitution G A intron_variant MELA-AU 5 16104958 16104958 single base substitution T A intron_variant MELA-AU 5 16104962 16104962 single base substitution C T intron_variant MELA-AU 5 16105020 16105020 single base substitution G A intron_variant MELA-AU 5 16105021 16105021 single base substitution G A intron_variant MELA-AU 5 16105056 16105056 single base substitution C T intron_variant MELA-AU 5 16105144 16105144 single base substitution C T intron_variant MELA-AU 5 16105192 16105192 single base substitution G A intron_variant MELA-AU 5 16105256 16105256 single base substitution A C intron_variant MELA-AU 5 16105400 16105400 single base substitution G A intron_variant MELA-AU 5 16105522 16105522 single base substitution C T intron_variant MELA-AU 5 16105544 16105544 single base substitution G A intron_variant MELA-AU 5 16105576 16105576 single base substitution C T intron_variant MELA-AU 5 16105594 16105594 single base substitution C T intron_variant MELA-AU 5 16105619 16105619 single base substitution C T intron_variant MELA-AU 5 16105719 16105719 single base substitution G A intron_variant MELA-AU 5 16105746 16105746 single base substitution G A intron_variant MELA-AU 5 16105752 16105752 single base substitution C T intron_variant MELA-AU 5 16105765 16105765 single base substitution G A intron_variant MELA-AU 5 16105780 16105780 single base substitution G A intron_variant MELA-AU 5 16105917 16105917 single base substitution C T intron_variant MELA-AU 5 16105925 16105925 single base substitution C T intron_variant MELA-AU 5 16105946 16105946 single base substitution C T intron_variant MELA-AU 5 16106109 16106109 single base substitution G A intron_variant MELA-AU 5 16106231 16106231 single base substitution G A intron_variant MELA-AU 5 16106239 16106239 single base substitution T A intron_variant MELA-AU 5 16106264 16106264 single base substitution G A intron_variant MELA-AU 5 16106308 16106308 single base substitution C T intron_variant MELA-AU 5 16106316 16106316 single base substitution G A intron_variant MELA-AU 5 16106326 16106326 single base substitution A T intron_variant MELA-AU 5 16106618 16106618 single base substitution G A intron_variant MELA-AU 5 16106676 16106676 single base substitution G A intron_variant MELA-AU 5 16106699 16106699 single base substitution C T intron_variant MELA-AU 5 16106737 16106737 single base substitution G A intron_variant MELA-AU 5 16106741 16106741 single base substitution G A intron_variant MELA-AU 5 16106755 16106755 single base substitution C T intron_variant MELA-AU 5 16106763 16106763 single base substitution C T intron_variant MELA-AU 5 16106797 16106797 single base substitution G A intron_variant MELA-AU 5 16106822 16106822 single base substitution G A intron_variant MELA-AU 5 16106951 16106951 single base substitution C T intron_variant MELA-AU 5 16106980 16106980 single base substitution A C intron_variant MELA-AU 5 16107025 16107025 single base substitution G A intron_variant MELA-AU 5 16107048 16107048 single base substitution C A intron_variant MELA-AU 5 16107089 16107089 single base substitution T C intron_variant MELA-AU 5 16107143 16107143 single base substitution C T intron_variant MELA-AU 5 16107169 16107169 single base substitution G A intron_variant MELA-AU 5 16107411 16107411 single base substitution A C intron_variant MELA-AU 5 16107418 16107418 single base substitution G A intron_variant MELA-AU 5 16107521 16107521 single base substitution C T intron_variant MELA-AU 5 16107563 16107563 single base substitution G A intron_variant MELA-AU 5 16107675 16107675 single base substitution G A intron_variant MELA-AU 5 16107713 16107713 single base substitution C T intron_variant MELA-AU 5 16107729 16107729 single base substitution G A intron_variant MELA-AU 5 16107795 16107795 single base substitution G A intron_variant MELA-AU 5 16107831 16107831 single base substitution G A intron_variant MELA-AU 5 16107899 16107899 single base substitution A G intron_variant MELA-AU 5 16107914 16107915 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 16107915 16107915 single base substitution G A intron_variant MELA-AU 5 16107970 16107970 single base substitution C T intron_variant MELA-AU 5 16108006 16108006 single base substitution C T intron_variant MELA-AU 5 16108098 16108098 single base substitution C T intron_variant MELA-AU 5 16108141 16108141 single base substitution G A intron_variant MELA-AU 5 16108182 16108182 single base substitution A C intron_variant MELA-AU 5 16108214 16108214 single base substitution C T intron_variant MELA-AU 5 16108230 16108230 single base substitution G A intron_variant MELA-AU 5 16108239 16108239 single base substitution G A intron_variant MELA-AU 5 16108330 16108330 single base substitution C T intron_variant MELA-AU 5 16108334 16108334 single base substitution G A intron_variant MELA-AU 5 16108394 16108395 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 16108425 16108425 single base substitution G A intron_variant MELA-AU 5 16108426 16108426 single base substitution G A intron_variant MELA-AU 5 16108465 16108465 single base substitution C T intron_variant MELA-AU 5 16108469 16108469 single base substitution C T intron_variant MELA-AU 5 16108494 16108494 single base substitution G A intron_variant MELA-AU 5 16108535 16108535 single base substitution A G intron_variant MELA-AU 5 16108569 16108570 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 16108581 16108581 single base substitution C A intron_variant MELA-AU 5 16108651 16108651 single base substitution G A intron_variant MELA-AU 5 16108652 16108652 single base substitution G A intron_variant MELA-AU 5 16108660 16108660 single base substitution G A intron_variant MELA-AU 5 16108702 16108702 single base substitution C T intron_variant MELA-AU 5 16108758 16108758 single base substitution G A intron_variant MELA-AU 5 16108797 16108797 single base substitution G A intron_variant MELA-AU 5 16108800 16108800 single base substitution C T intron_variant MELA-AU 5 16108861 16108861 single base substitution G A intron_variant MELA-AU 5 16108926 16108926 single base substitution C T intron_variant MELA-AU 5 16108969 16108970 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 16108970 16108970 single base substitution G T intron_variant MELA-AU 5 16109060 16109060 single base substitution G A intron_variant MELA-AU 5 16109107 16109107 single base substitution G A intron_variant MELA-AU 5 16109111 16109111 single base substitution T C intron_variant MELA-AU 5 16109137 16109137 single base substitution C T intron_variant MELA-AU 5 16109154 16109154 single base substitution G A intron_variant MELA-AU 5 16109174 16109174 single base substitution G A intron_variant MELA-AU 5 16109262 16109262 single base substitution G A intron_variant MELA-AU 5 16109313 16109313 single base substitution T C intron_variant MELA-AU 5 16109431 16109431 single base substitution C T intron_variant MELA-AU 5 16109453 16109453 single base substitution G A intron_variant MELA-AU 5 16109471 16109471 single base substitution C T intron_variant MELA-AU 5 16109474 16109474 single base substitution C T intron_variant MELA-AU 5 16109537 16109537 single base substitution G A intron_variant MELA-AU 5 16109538 16109538 single base substitution G A intron_variant MELA-AU 5 16109551 16109551 single base substitution G A intron_variant MELA-AU 5 16109584 16109584 single base substitution C T intron_variant MELA-AU 5 16109586 16109586 single base substitution G A intron_variant MELA-AU 5 16109634 16109634 single base substitution C T intron_variant MELA-AU 5 16109650 16109650 single base substitution C T intron_variant MELA-AU 5 16109663 16109663 single base substitution C T intron_variant MELA-AU 5 16109680 16109680 single base substitution C T intron_variant MELA-AU 5 16109695 16109695 single base substitution G A intron_variant MELA-AU 5 16109695 16109696 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 16109704 16109704 single base substitution A G intron_variant MELA-AU 5 16109845 16109845 single base substitution G A intron_variant MELA-AU 5 16109958 16109958 single base substitution G A intron_variant MELA-AU 5 16109964 16109964 single base substitution C T intron_variant MELA-AU 5 16109965 16109965 single base substitution C T intron_variant MELA-AU 5 16110057 16110057 single base substitution C T intron_variant MELA-AU 5 16110148 16110148 single base substitution C T intron_variant MELA-AU 5 16110177 16110177 single base substitution C T intron_variant MELA-AU 5 16110207 16110207 single base substitution C T intron_variant MELA-AU 5 16110387 16110387 single base substitution C T intron_variant MELA-AU 5 16110518 16110518 single base substitution T C intron_variant MELA-AU 5 16110796 16110796 single base substitution C T intron_variant MELA-AU 5 16110846 16110846 single base substitution C T intron_variant MELA-AU 5 16110884 16110884 single base substitution G A intron_variant MELA-AU 5 16111029 16111029 single base substitution C T intron_variant MELA-AU 5 16111030 16111030 single base substitution C T intron_variant MELA-AU 5 16111066 16111066 single base substitution G A intron_variant MELA-AU 5 16111089 16111089 single base substitution G A intron_variant MELA-AU 5 16111095 16111095 single base substitution C T intron_variant MELA-AU 5 16111212 16111212 single base substitution C T intron_variant MELA-AU 5 16111241 16111241 single base substitution G A intron_variant MELA-AU 5 16111308 16111310 multiple base substitution (>=2bp and <=200bp) GTG TGC intron_variant MELA-AU 5 16111382 16111382 single base substitution G A intron_variant MELA-AU 5 16111402 16111402 single base substitution C T intron_variant MELA-AU 5 16111544 16111544 single base substitution G A intron_variant MELA-AU 5 16111559 16111559 single base substitution C T intron_variant MELA-AU 5 16111573 16111573 single base substitution G A intron_variant MELA-AU 5 16111581 16111581 single base substitution G A intron_variant MELA-AU 5 16111675 16111675 single base substitution G A intron_variant MELA-AU 5 16111686 16111686 single base substitution T C intron_variant MELA-AU 5 16111693 16111693 single base substitution G A intron_variant MELA-AU 5 16111836 16111836 single base substitution G A intron_variant MELA-AU 5 16111868 16111868 single base substitution G A intron_variant MELA-AU 5 16111894 16111894 single base substitution C T intron_variant MELA-AU 5 16111909 16111909 single base substitution G A intron_variant MELA-AU 5 16111981 16111981 single base substitution C T intron_variant MELA-AU 5 16111991 16111991 single base substitution C T intron_variant MELA-AU 5 16112007 16112007 single base substitution G A intron_variant MELA-AU 5 16112052 16112052 single base substitution C T intron_variant MELA-AU 5 16112076 16112076 single base substitution G A intron_variant MELA-AU 5 16112122 16112122 single base substitution A G intron_variant MELA-AU 5 16112151 16112151 single base substitution G A intron_variant MELA-AU 5 16112232 16112232 single base substitution G A intron_variant MELA-AU 5 16112409 16112409 single base substitution G A intron_variant MELA-AU 5 16112585 16112585 single base substitution C T intron_variant MELA-AU 5 16112598 16112598 single base substitution C T intron_variant MELA-AU 5 16112747 16112747 single base substitution G A intron_variant MELA-AU 5 16112883 16112883 single base substitution T G intron_variant MELA-AU 5 16112924 16112924 single base substitution G A intron_variant MELA-AU 5 16112934 16112934 single base substitution G A intron_variant MELA-AU 5 16113016 16113016 single base substitution C G intron_variant MELA-AU 5 16113092 16113092 single base substitution C T intron_variant MELA-AU 5 16113155 16113155 single base substitution A G intron_variant MELA-AU 5 16113227 16113227 single base substitution G A intron_variant MELA-AU 5 16113236 16113236 single base substitution G A intron_variant MELA-AU 5 16113242 16113243 multiple base substitution (>=2bp and <=200bp) CA AT intron_variant MELA-AU 5 16113354 16113354 single base substitution C T intron_variant MELA-AU 5 16113391 16113391 single base substitution G A intron_variant MELA-AU 5 16113392 16113392 single base substitution G A intron_variant MELA-AU 5 16113399 16113399 single base substitution C T intron_variant MELA-AU 5 16113410 16113410 single base substitution G A intron_variant MELA-AU 5 16113444 16113444 single base substitution C T intron_variant MELA-AU 5 16113454 16113454 single base substitution C T intron_variant MELA-AU 5 16113492 16113492 single base substitution G A intron_variant MELA-AU 5 16113556 16113556 single base substitution T G intron_variant MELA-AU 5 16113620 16113620 single base substitution G A intron_variant MELA-AU 5 16113661 16113661 single base substitution G A intron_variant MELA-AU 5 16113756 16113757 deletion of <=200bp AC - intron_variant MELA-AU 5 16113835 16113835 single base substitution G A intron_variant MELA-AU 5 16113855 16113855 single base substitution G A intron_variant MELA-AU 5 16113868 16113868 single base substitution T A intron_variant MELA-AU 5 16113896 16113896 single base substitution G A intron_variant MELA-AU 5 16114027 16114027 single base substitution G A intron_variant MELA-AU 5 16114029 16114029 single base substitution G A intron_variant MELA-AU 5 16114038 16114038 single base substitution C T intron_variant MELA-AU 5 16114086 16114086 single base substitution C T intron_variant MELA-AU 5 16114091 16114091 single base substitution C T intron_variant MELA-AU 5 16114130 16114130 single base substitution C T intron_variant MELA-AU 5 16114234 16114234 single base substitution C T intron_variant MELA-AU 5 16114335 16114335 single base substitution C T intron_variant MELA-AU 5 16114340 16114340 single base substitution G A intron_variant MELA-AU 5 16114403 16114403 single base substitution C T intron_variant MELA-AU 5 16114521 16114521 single base substitution G A intron_variant MELA-AU 5 16114535 16114535 single base substitution G A intron_variant MELA-AU 5 16114636 16114636 single base substitution C T intron_variant MELA-AU 5 16114675 16114675 single base substitution C T intron_variant MELA-AU 5 16114677 16114677 single base substitution C T intron_variant MELA-AU 5 16114722 16114722 single base substitution G A intron_variant MELA-AU 5 16114984 16114984 single base substitution C T intron_variant MELA-AU 5 16115057 16115057 single base substitution C T intron_variant MELA-AU 5 16115131 16115131 single base substitution G A intron_variant MELA-AU 5 16115203 16115203 single base substitution C T intron_variant MELA-AU 5 16115227 16115227 single base substitution G A intron_variant MELA-AU 5 16115279 16115279 single base substitution G A intron_variant MELA-AU 5 16115376 16115376 single base substitution C T intron_variant MELA-AU 5 16115423 16115423 single base substitution G A intron_variant MELA-AU 5 16115429 16115429 single base substitution G A intron_variant MELA-AU 5 16115435 16115435 single base substitution C T intron_variant MELA-AU 5 16115472 16115472 single base substitution G A intron_variant MELA-AU 5 16115524 16115524 single base substitution G A intron_variant MELA-AU 5 16115571 16115571 single base substitution G A intron_variant MELA-AU 5 16115594 16115594 single base substitution G A intron_variant MELA-AU 5 16115896 16115896 single base substitution C T intron_variant MELA-AU 5 16116005 16116005 single base substitution G A intron_variant MELA-AU 5 16116006 16116006 single base substitution G A intron_variant MELA-AU 5 16116080 16116080 single base substitution C T intron_variant MELA-AU 5 16116308 16116308 single base substitution G A intron_variant MELA-AU 5 16116352 16116352 single base substitution C T intron_variant MELA-AU 5 16116405 16116405 single base substitution C T intron_variant MELA-AU 5 16116423 16116423 single base substitution G A intron_variant MELA-AU 5 16116439 16116439 single base substitution G A intron_variant MELA-AU 5 16116472 16116472 single base substitution C T intron_variant MELA-AU 5 16116748 16116748 single base substitution T A intron_variant MELA-AU 5 16116770 16116770 single base substitution C G intron_variant MELA-AU 5 16116806 16116806 single base substitution G A intron_variant MELA-AU 5 16116815 16116815 single base substitution G A intron_variant MELA-AU 5 16116835 16116835 single base substitution C T intron_variant MELA-AU 5 16116868 16116868 single base substitution A T intron_variant MELA-AU 5 16116896 16116896 single base substitution G A intron_variant MELA-AU 5 16116905 16116905 single base substitution G A intron_variant MELA-AU 5 16117015 16117015 single base substitution G A intron_variant MELA-AU 5 16117055 16117055 single base substitution G A intron_variant MELA-AU 5 16117088 16117088 single base substitution G A intron_variant MELA-AU 5 16117109 16117109 single base substitution C T intron_variant MELA-AU 5 16117156 16117156 single base substitution G A intron_variant MELA-AU 5 16117184 16117184 single base substitution G A intron_variant MELA-AU 5 16117209 16117209 single base substitution G A intron_variant MELA-AU 5 16117332 16117332 single base substitution G A intron_variant MELA-AU 5 16117347 16117347 single base substitution G A intron_variant MELA-AU 5 16117356 16117356 single base substitution C T intron_variant MELA-AU 5 16117357 16117357 single base substitution G A intron_variant MELA-AU 5 16117444 16117444 single base substitution C T intron_variant MELA-AU 5 16117547 16117547 single base substitution C T intron_variant MELA-AU 5 16117573 16117573 single base substitution C T intron_variant MELA-AU 5 16117649 16117649 single base substitution G A intron_variant MELA-AU 5 16117652 16117652 single base substitution G A intron_variant MELA-AU 5 16117790 16117790 single base substitution G A intron_variant MELA-AU 5 16117876 16117876 single base substitution G A intron_variant MELA-AU 5 16117947 16117947 single base substitution C T intron_variant MELA-AU 5 16118011 16118011 single base substitution G A intron_variant MELA-AU 5 16118015 16118015 single base substitution A T intron_variant MELA-AU 5 16118043 16118043 single base substitution C T intron_variant MELA-AU 5 16118086 16118086 single base substitution G A intron_variant MELA-AU 5 16118093 16118093 single base substitution G A intron_variant MELA-AU 5 16118170 16118171 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 5 16118175 16118175 single base substitution C T intron_variant MELA-AU 5 16118211 16118211 single base substitution G A intron_variant MELA-AU 5 16118241 16118241 single base substitution C T intron_variant MELA-AU 5 16118280 16118280 single base substitution G A intron_variant MELA-AU 5 16118281 16118281 single base substitution G A intron_variant MELA-AU 5 16118285 16118285 single base substitution G A intron_variant MELA-AU 5 16118353 16118353 single base substitution C T intron_variant MELA-AU 5 16118359 16118360 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 16118360 16118360 single base substitution G A intron_variant MELA-AU 5 16118386 16118386 single base substitution C T intron_variant MELA-AU 5 16118414 16118414 single base substitution G A intron_variant MELA-AU 5 16118469 16118469 single base substitution G A intron_variant MELA-AU 5 16118475 16118475 single base substitution G A intron_variant MELA-AU 5 16118498 16118498 single base substitution C T intron_variant MELA-AU 5 16118522 16118522 single base substitution G A intron_variant MELA-AU 5 16118665 16118665 single base substitution C T intron_variant MELA-AU 5 16118734 16118734 single base substitution G A intron_variant MELA-AU 5 16118786 16118786 single base substitution G A intron_variant MELA-AU 5 16118839 16118839 single base substitution G T intron_variant MELA-AU 5 16118876 16118876 single base substitution C A intron_variant MELA-AU 5 16119128 16119128 single base substitution T A intron_variant MELA-AU 5 16119146 16119146 single base substitution G A intron_variant MELA-AU 5 16119179 16119179 single base substitution C T intron_variant MELA-AU 5 16119551 16119551 single base substitution G A intron_variant MELA-AU 5 16119690 16119690 single base substitution G A intron_variant MELA-AU 5 16119719 16119719 single base substitution C T intron_variant MELA-AU 5 16119814 16119814 single base substitution C T intron_variant MELA-AU 5 16120037 16120037 single base substitution G A intron_variant MELA-AU 5 16120194 16120194 single base substitution T A intron_variant MELA-AU 5 16120271 16120271 single base substitution T A intron_variant MELA-AU 5 16120290 16120290 single base substitution G A intron_variant MELA-AU 5 16120392 16120392 single base substitution T C intron_variant MELA-AU 5 16120464 16120464 single base substitution C T intron_variant MELA-AU 5 16120507 16120507 single base substitution C T intron_variant MELA-AU 5 16120612 16120612 single base substitution C T intron_variant MELA-AU 5 16120713 16120713 single base substitution C T intron_variant MELA-AU 5 16120729 16120729 single base substitution C T intron_variant MELA-AU 5 16120770 16120770 single base substitution C T intron_variant MELA-AU 5 16120797 16120797 single base substitution C T intron_variant MELA-AU 5 16120820 16120820 single base substitution G A intron_variant MELA-AU 5 16120899 16120899 single base substitution G A intron_variant MELA-AU 5 16120918 16120918 single base substitution A C intron_variant MELA-AU 5 16120971 16120971 single base substitution T G intron_variant MELA-AU 5 16120981 16120981 single base substitution T G intron_variant MELA-AU 5 16121017 16121017 single base substitution G A intron_variant MELA-AU 5 16121116 16121116 single base substitution G A intron_variant MELA-AU 5 16121136 16121136 single base substitution C T intron_variant MELA-AU 5 16121171 16121171 single base substitution C T intron_variant MELA-AU 5 16121261 16121261 single base substitution C T intron_variant MELA-AU 5 16121310 16121310 single base substitution C T intron_variant MELA-AU 5 16121352 16121352 single base substitution C T intron_variant MELA-AU 5 16121361 16121361 single base substitution C T intron_variant MELA-AU 5 16121370 16121370 single base substitution T C intron_variant MELA-AU 5 16121423 16121423 single base substitution C T intron_variant MELA-AU 5 16121494 16121494 single base substitution C T intron_variant MELA-AU 5 16121495 16121495 single base substitution C T intron_variant MELA-AU 5 16121533 16121533 single base substitution G A intron_variant MELA-AU 5 16121537 16121537 single base substitution G A intron_variant MELA-AU 5 16121636 16121636 single base substitution A G intron_variant MELA-AU 5 16121676 16121676 single base substitution C T intron_variant MELA-AU 5 16121707 16121707 single base substitution G A intron_variant MELA-AU 5 16121744 16121744 single base substitution C T intron_variant MELA-AU 5 16121863 16121863 single base substitution C T intron_variant MELA-AU 5 16122061 16122061 single base substitution C T intron_variant MELA-AU 5 16122153 16122153 single base substitution C T intron_variant MELA-AU 5 16122258 16122258 single base substitution C T intron_variant MELA-AU 5 16122281 16122281 single base substitution C T intron_variant MELA-AU 5 16122337 16122337 single base substitution C T intron_variant MELA-AU 5 16122343 16122343 single base substitution C T intron_variant MELA-AU 5 16122347 16122347 single base substitution G A intron_variant MELA-AU 5 16122400 16122400 single base substitution G A intron_variant MELA-AU 5 16122493 16122493 single base substitution C T intron_variant MELA-AU 5 16122605 16122605 single base substitution G A intron_variant MELA-AU 5 16122650 16122650 single base substitution C T intron_variant MELA-AU 5 16122746 16122746 single base substitution C T intron_variant MELA-AU 5 16122748 16122748 single base substitution C T intron_variant MELA-AU 5 16122968 16122968 single base substitution C T intron_variant MELA-AU 5 16123017 16123017 single base substitution G A intron_variant MELA-AU 5 16123086 16123086 single base substitution C T intron_variant MELA-AU 5 16123144 16123144 single base substitution G A intron_variant MELA-AU 5 16123258 16123258 single base substitution G A intron_variant MELA-AU 5 16123367 16123367 single base substitution G A intron_variant MELA-AU 5 16123389 16123389 single base substitution C T intron_variant MELA-AU 5 16123403 16123403 single base substitution C T intron_variant MELA-AU 5 16123443 16123443 single base substitution G A intron_variant MELA-AU 5 16123454 16123454 single base substitution G A intron_variant MELA-AU 5 16123555 16123555 single base substitution G A intron_variant MELA-AU 5 16123703 16123703 single base substitution T C intron_variant MELA-AU 5 16123853 16123853 single base substitution C T intron_variant MELA-AU 5 16124071 16124071 single base substitution G A intron_variant MELA-AU 5 16124156 16124156 single base substitution G A intron_variant MELA-AU 5 16124171 16124171 single base substitution G A intron_variant MELA-AU 5 16124198 16124198 single base substitution G A intron_variant MELA-AU 5 16124264 16124264 single base substitution G A intron_variant MELA-AU 5 16124314 16124314 single base substitution G A intron_variant MELA-AU 5 16124447 16124447 single base substitution G T intron_variant MELA-AU 5 16124460 16124460 single base substitution A G intron_variant MELA-AU 5 16124487 16124487 single base substitution G A intron_variant MELA-AU 5 16124493 16124493 single base substitution G A intron_variant MELA-AU 5 16124582 16124582 single base substitution C T intron_variant MELA-AU 5 16124669 16124669 single base substitution G A intron_variant MELA-AU 5 16124787 16124787 single base substitution C T intron_variant MELA-AU 5 16124851 16124851 single base substitution G A intron_variant MELA-AU 5 16124920 16124920 single base substitution C T intron_variant MELA-AU 5 16125173 16125173 single base substitution C T intron_variant MELA-AU 5 16125185 16125185 single base substitution C T intron_variant MELA-AU 5 16125359 16125359 single base substitution G A intron_variant MELA-AU 5 16125509 16125509 single base substitution C T intron_variant MELA-AU 5 16125526 16125526 single base substitution G A intron_variant MELA-AU 5 16125551 16125551 single base substitution C A intron_variant MELA-AU 5 16125611 16125611 single base substitution G A intron_variant MELA-AU 5 16125639 16125639 single base substitution G A intron_variant MELA-AU 5 16125885 16125885 single base substitution G A intron_variant MELA-AU 5 16126066 16126066 single base substitution C T intron_variant MELA-AU 5 16126122 16126122 single base substitution G A intron_variant MELA-AU 5 16126142 16126142 single base substitution G A intron_variant MELA-AU 5 16126239 16126239 single base substitution A G intron_variant MELA-AU 5 16126388 16126388 single base substitution A G intron_variant MELA-AU 5 16126417 16126417 single base substitution C T intron_variant MELA-AU 5 16126561 16126561 insertion of <=200bp - TATAATACTTTGCATC intron_variant MELA-AU 5 16126626 16126626 single base substitution C T intron_variant MELA-AU 5 16126702 16126702 single base substitution G A intron_variant MELA-AU 5 16126745 16126745 single base substitution A C intron_variant MELA-AU 5 16126801 16126801 single base substitution C T intron_variant MELA-AU 5 16126922 16126922 single base substitution C T intron_variant MELA-AU 5 16126928 16126928 single base substitution G A intron_variant MELA-AU 5 16126934 16126934 single base substitution G A intron_variant MELA-AU 5 16127122 16127122 single base substitution C T intron_variant MELA-AU 5 16127229 16127229 single base substitution G A intron_variant MELA-AU 5 16127355 16127355 single base substitution C T intron_variant MELA-AU 5 16127418 16127418 single base substitution C A intron_variant MELA-AU 5 16127463 16127463 single base substitution G A intron_variant MELA-AU 5 16127509 16127509 single base substitution G A intron_variant MELA-AU 5 16127567 16127567 single base substitution G A intron_variant MELA-AU 5 16127781 16127781 single base substitution G A intron_variant MELA-AU 5 16127788 16127788 single base substitution C T intron_variant MELA-AU 5 16127965 16127965 single base substitution G A intron_variant MELA-AU 5 16127967 16127967 single base substitution G C intron_variant MELA-AU 5 16127991 16127991 single base substitution A G intron_variant MELA-AU 5 16127999 16127999 single base substitution G A intron_variant MELA-AU 5 16128002 16128002 single base substitution G A intron_variant MELA-AU 5 16128043 16128043 single base substitution C T intron_variant MELA-AU 5 16128057 16128057 single base substitution G A intron_variant MELA-AU 5 16128096 16128096 single base substitution C T intron_variant MELA-AU 5 16128123 16128123 single base substitution G A intron_variant MELA-AU 5 16128161 16128161 single base substitution C T intron_variant MELA-AU 5 16128215 16128215 single base substitution G A intron_variant MELA-AU 5 16128227 16128227 single base substitution G A intron_variant MELA-AU 5 16128242 16128242 single base substitution C T intron_variant MELA-AU 5 16128286 16128286 single base substitution C T intron_variant MELA-AU 5 16128615 16128615 single base substitution A T intron_variant MELA-AU 5 16128619 16128619 single base substitution G A intron_variant MELA-AU 5 16128629 16128629 single base substitution A G intron_variant MELA-AU 5 16128640 16128640 single base substitution G C intron_variant MELA-AU 5 16128664 16128664 single base substitution C A intron_variant MELA-AU 5 16128667 16128667 single base substitution G A intron_variant MELA-AU 5 16128675 16128675 single base substitution G A intron_variant MELA-AU 5 16128691 16128691 single base substitution T C intron_variant MELA-AU 5 16128742 16128742 single base substitution C T intron_variant MELA-AU 5 16128802 16128802 single base substitution G A intron_variant MELA-AU 5 16128997 16128997 single base substitution C T intron_variant MELA-AU 5 16129069 16129069 single base substitution C T intron_variant MELA-AU 5 16129197 16129197 single base substitution G A intron_variant MELA-AU 5 16129203 16129203 single base substitution C T intron_variant MELA-AU 5 16129382 16129382 single base substitution G A intron_variant MELA-AU 5 16129490 16129490 single base substitution A C intron_variant MELA-AU 5 16129502 16129502 single base substitution C T intron_variant MELA-AU 5 16129584 16129584 single base substitution G A intron_variant MELA-AU 5 16129585 16129585 single base substitution A G intron_variant MELA-AU 5 16129593 16129593 single base substitution C T intron_variant MELA-AU 5 16129704 16129704 single base substitution C A intron_variant MELA-AU 5 16129830 16129830 single base substitution C G intron_variant MELA-AU 5 16129924 16129924 single base substitution C T intron_variant MELA-AU 5 16130046 16130046 single base substitution G A intron_variant MELA-AU 5 16130048 16130048 single base substitution G A intron_variant MELA-AU 5 16130071 16130071 single base substitution G A intron_variant MELA-AU 5 16130118 16130118 single base substitution C T intron_variant MELA-AU 5 16130219 16130219 single base substitution C T intron_variant MELA-AU 5 16130244 16130244 single base substitution C T intron_variant MELA-AU 5 16130284 16130284 single base substitution G A intron_variant MELA-AU 5 16130351 16130351 single base substitution C T intron_variant MELA-AU 5 16130471 16130471 single base substitution A G intron_variant MELA-AU 5 16130666 16130666 single base substitution G A intron_variant MELA-AU 5 16130924 16130924 single base substitution T G intron_variant MELA-AU 5 16130935 16130935 single base substitution T A intron_variant MELA-AU 5 16130963 16130963 single base substitution T C intron_variant MELA-AU 5 16131046 16131046 single base substitution A C intron_variant MELA-AU 5 16131063 16131063 single base substitution G A intron_variant MELA-AU 5 16131177 16131177 single base substitution G A intron_variant MELA-AU 5 16131391 16131391 single base substitution C T intron_variant MELA-AU 5 16131405 16131405 single base substitution C T intron_variant MELA-AU 5 16131493 16131493 single base substitution G A intron_variant MELA-AU 5 16131553 16131553 single base substitution G A intron_variant MELA-AU 5 16131769 16131769 single base substitution C T intron_variant MELA-AU 5 16131780 16131780 single base substitution G A intron_variant MELA-AU 5 16131818 16131818 single base substitution C T intron_variant MELA-AU 5 16131858 16131858 single base substitution G A intron_variant MELA-AU 5 16131934 16131934 single base substitution C T intron_variant MELA-AU 5 16131964 16131964 single base substitution G A intron_variant MELA-AU 5 16132071 16132071 single base substitution G A intron_variant MELA-AU 5 16132134 16132134 single base substitution A G intron_variant MELA-AU 5 16132207 16132207 single base substitution G A intron_variant MELA-AU 5 16132257 16132257 single base substitution A T intron_variant MELA-AU 5 16132260 16132260 single base substitution G A intron_variant MELA-AU 5 16132270 16132270 single base substitution C T intron_variant MELA-AU 5 16132357 16132357 single base substitution G A intron_variant MELA-AU 5 16132368 16132368 single base substitution G A intron_variant MELA-AU 5 16132369 16132369 single base substitution G A intron_variant MELA-AU 5 16132404 16132404 single base substitution C T intron_variant MELA-AU 5 16132410 16132410 single base substitution C T intron_variant MELA-AU 5 16132479 16132479 single base substitution G A intron_variant MELA-AU 5 16132533 16132533 single base substitution C T intron_variant MELA-AU 5 16132654 16132654 single base substitution G A intron_variant MELA-AU 5 16132689 16132689 single base substitution G A intron_variant MELA-AU 5 16132850 16132850 single base substitution G A intron_variant MELA-AU 5 16132923 16132923 single base substitution G A intron_variant MELA-AU 5 16132931 16132931 single base substitution G A intron_variant MELA-AU 5 16133040 16133040 single base substitution G A intron_variant MELA-AU 5 16133081 16133081 single base substitution G A intron_variant MELA-AU 5 16133089 16133089 single base substitution C T intron_variant MELA-AU 5 16133164 16133164 single base substitution G T intron_variant MELA-AU 5 16133211 16133211 single base substitution G A intron_variant MELA-AU 5 16133215 16133215 single base substitution G A intron_variant MELA-AU 5 16133246 16133246 single base substitution C T intron_variant MELA-AU 5 16133315 16133315 single base substitution C T intron_variant MELA-AU 5 16133324 16133324 single base substitution G A intron_variant MELA-AU 5 16133414 16133414 single base substitution C T intron_variant MELA-AU 5 16133542 16133542 single base substitution C T intron_variant MELA-AU 5 16133667 16133667 single base substitution C T intron_variant MELA-AU 5 16134172 16134172 single base substitution C T intron_variant MELA-AU 5 16134198 16134198 single base substitution C T intron_variant MELA-AU 5 16134427 16134427 single base substitution G A intron_variant MELA-AU 5 16134554 16134554 single base substitution C T intron_variant MELA-AU 5 16134610 16134610 single base substitution C T intron_variant MELA-AU 5 16134760 16134760 single base substitution C T intron_variant MELA-AU 5 16134803 16134803 single base substitution G A intron_variant MELA-AU 5 16134837 16134837 single base substitution A G intron_variant MELA-AU 5 16134866 16134866 single base substitution C T intron_variant MELA-AU 5 16134946 16134946 single base substitution G A intron_variant MELA-AU 5 16134965 16134965 single base substitution T A intron_variant MELA-AU 5 16135034 16135034 single base substitution G A intron_variant MELA-AU 5 16135102 16135102 single base substitution C T intron_variant MELA-AU 5 16135107 16135107 single base substitution T A intron_variant MELA-AU 5 16135182 16135182 single base substitution C T intron_variant MELA-AU 5 16135210 16135210 single base substitution C T intron_variant MELA-AU 5 16135295 16135295 single base substitution G A intron_variant MELA-AU 5 16135373 16135373 single base substitution G A intron_variant MELA-AU 5 16135406 16135406 single base substitution G A intron_variant MELA-AU 5 16135436 16135436 single base substitution G A intron_variant MELA-AU 5 16135550 16135550 single base substitution G A intron_variant MELA-AU 5 16135566 16135566 single base substitution G A intron_variant MELA-AU 5 16135717 16135717 single base substitution A T intron_variant MELA-AU 5 16135926 16135926 single base substitution G A intron_variant MELA-AU 5 16135966 16135966 single base substitution G A intron_variant MELA-AU 5 16136011 16136011 single base substitution G A intron_variant MELA-AU 5 16136012 16136012 single base substitution G A intron_variant MELA-AU 5 16136015 16136015 single base substitution G A intron_variant MELA-AU 5 16136021 16136021 single base substitution G A intron_variant MELA-AU 5 16136144 16136144 single base substitution G A intron_variant MELA-AU 5 16136159 16136159 single base substitution C T intron_variant MELA-AU 5 16136200 16136200 single base substitution G A intron_variant MELA-AU 5 16136223 16136223 single base substitution C A intron_variant MELA-AU 5 16136236 16136236 single base substitution G A intron_variant MELA-AU 5 16136306 16136306 single base substitution G A intron_variant MELA-AU 5 16136441 16136441 single base substitution T G intron_variant MELA-AU 5 16136501 16136501 single base substitution G A intron_variant MELA-AU 5 16136659 16136659 single base substitution G A intron_variant MELA-AU 5 16136664 16136664 single base substitution G C intron_variant MELA-AU 5 16136691 16136691 single base substitution T A intron_variant MELA-AU 5 16136799 16136799 single base substitution C T intron_variant MELA-AU 5 16136842 16136842 single base substitution G A intron_variant MELA-AU 5 16136846 16136846 single base substitution A T intron_variant MELA-AU 5 16136885 16136885 single base substitution G A intron_variant MELA-AU 5 16136945 16136945 single base substitution G A intron_variant MELA-AU 5 16137276 16137276 single base substitution C T intron_variant MELA-AU 5 16137317 16137317 single base substitution C T intron_variant MELA-AU 5 16137339 16137339 single base substitution C T intron_variant MELA-AU 5 16137360 16137360 single base substitution G A intron_variant MELA-AU 5 16137380 16137380 single base substitution C T intron_variant MELA-AU 5 16137690 16137690 single base substitution A C intron_variant MELA-AU 5 16137844 16137844 single base substitution G A intron_variant MELA-AU 5 16137845 16137845 single base substitution G A intron_variant MELA-AU 5 16137864 16137864 single base substitution G A intron_variant MELA-AU 5 16137923 16137923 single base substitution C T intron_variant MELA-AU 5 16137942 16137942 single base substitution G A intron_variant MELA-AU 5 16138005 16138005 single base substitution C T intron_variant MELA-AU 5 16138037 16138037 single base substitution C T intron_variant MELA-AU 5 16138058 16138058 single base substitution G A intron_variant MELA-AU 5 16138095 16138095 single base substitution G A intron_variant MELA-AU 5 16138117 16138117 single base substitution G A intron_variant MELA-AU 5 16138174 16138174 single base substitution C T intron_variant MELA-AU 5 16138187 16138187 single base substitution G A intron_variant MELA-AU 5 16138223 16138223 single base substitution C T intron_variant MELA-AU 5 16138238 16138238 single base substitution G A intron_variant MELA-AU 5 16138282 16138282 single base substitution C T intron_variant MELA-AU 5 16138306 16138306 single base substitution G A intron_variant MELA-AU 5 16138343 16138343 single base substitution C T intron_variant MELA-AU 5 16138381 16138381 single base substitution C T intron_variant MELA-AU 5 16138405 16138405 single base substitution C T intron_variant MELA-AU 5 16138474 16138474 single base substitution C T intron_variant MELA-AU 5 16138510 16138510 single base substitution G A intron_variant MELA-AU 5 16138518 16138518 single base substitution C T intron_variant MELA-AU 5 16138528 16138528 single base substitution C T intron_variant MELA-AU 5 16138541 16138541 single base substitution G A intron_variant MELA-AU 5 16138620 16138620 single base substitution G A intron_variant MELA-AU 5 16138621 16138621 single base substitution G A intron_variant MELA-AU 5 16138622 16138622 single base substitution G A intron_variant MELA-AU 5 16138624 16138624 single base substitution A T intron_variant MELA-AU 5 16138701 16138701 single base substitution C T intron_variant MELA-AU 5 16138905 16138905 single base substitution G A intron_variant MELA-AU 5 16138940 16138940 single base substitution G A intron_variant MELA-AU 5 16138963 16138963 single base substitution C T intron_variant MELA-AU 5 16138981 16138981 single base substitution C T intron_variant MELA-AU 5 16139277 16139277 single base substitution C T intron_variant MELA-AU 5 16139321 16139321 single base substitution G A intron_variant MELA-AU 5 16139342 16139342 single base substitution C T intron_variant MELA-AU 5 16139409 16139409 single base substitution C T intron_variant MELA-AU 5 16139414 16139414 single base substitution G A intron_variant MELA-AU 5 16139502 16139502 single base substitution G A intron_variant MELA-AU 5 16139605 16139605 single base substitution G A intron_variant MELA-AU 5 16139648 16139648 single base substitution G A intron_variant MELA-AU 5 16139698 16139698 single base substitution T C intron_variant MELA-AU 5 16139781 16139781 single base substitution C T intron_variant MELA-AU 5 16139795 16139795 single base substitution A G intron_variant MELA-AU 5 16139814 16139814 single base substitution C T intron_variant MELA-AU 5 16139884 16139884 single base substitution C T intron_variant MELA-AU 5 16139922 16139922 single base substitution G A intron_variant MELA-AU 5 16139949 16139949 single base substitution G A intron_variant MELA-AU 5 16139960 16139960 single base substitution G A intron_variant MELA-AU 5 16139961 16139961 single base substitution G A intron_variant MELA-AU 5 16140157 16140157 single base substitution T A intron_variant MELA-AU 5 16140169 16140169 single base substitution A T intron_variant MELA-AU 5 16140185 16140185 single base substitution G A intron_variant MELA-AU 5 16140269 16140269 single base substitution G A intron_variant MELA-AU 5 16140279 16140279 single base substitution G A intron_variant MELA-AU 5 16140435 16140435 single base substitution G A intron_variant MELA-AU 5 16140449 16140449 single base substitution T A intron_variant MELA-AU 5 16140617 16140617 single base substitution C T intron_variant MELA-AU 5 16140635 16140635 single base substitution G A intron_variant MELA-AU 5 16140683 16140683 single base substitution G A intron_variant MELA-AU 5 16140720 16140720 single base substitution C T intron_variant MELA-AU 5 16140802 16140802 single base substitution A T intron_variant MELA-AU 5 16140869 16140869 single base substitution C T intron_variant MELA-AU 5 16140899 16140899 single base substitution G A intron_variant MELA-AU 5 16140927 16140927 single base substitution G A intron_variant MELA-AU 5 16141190 16141190 single base substitution C T intron_variant MELA-AU 5 16141213 16141213 single base substitution G T intron_variant MELA-AU 5 16141263 16141263 single base substitution C T intron_variant MELA-AU 5 16141577 16141577 single base substitution G A intron_variant MELA-AU 5 16141610 16141610 single base substitution G A intron_variant MELA-AU 5 16141631 16141631 single base substitution G A intron_variant MELA-AU 5 16141719 16141719 single base substitution G A intron_variant MELA-AU 5 16141785 16141785 single base substitution A T intron_variant MELA-AU 5 16141963 16141963 single base substitution C T intron_variant MELA-AU 5 16142039 16142039 single base substitution C T intron_variant MELA-AU 5 16142067 16142067 single base substitution G A intron_variant MELA-AU 5 16142074 16142074 single base substitution C T intron_variant MELA-AU 5 16142091 16142091 single base substitution T A intron_variant MELA-AU 5 16142304 16142305 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 16142411 16142411 single base substitution C T intron_variant MELA-AU 5 16142507 16142507 single base substitution G A intron_variant MELA-AU 5 16142513 16142513 single base substitution C T intron_variant MELA-AU 5 16142517 16142517 single base substitution A C intron_variant MELA-AU 5 16142663 16142663 single base substitution C T intron_variant MELA-AU 5 16142904 16142904 single base substitution G A intron_variant MELA-AU 5 16142925 16142925 single base substitution C A intron_variant MELA-AU 5 16142936 16142936 single base substitution G A intron_variant MELA-AU 5 16143059 16143059 single base substitution G A intron_variant MELA-AU 5 16143069 16143069 single base substitution G A intron_variant MELA-AU 5 16143106 16143106 single base substitution C T intron_variant MELA-AU 5 16143112 16143112 single base substitution G A intron_variant MELA-AU 5 16143149 16143149 single base substitution A C intron_variant MELA-AU 5 16143216 16143216 single base substitution C T intron_variant MELA-AU 5 16143232 16143232 single base substitution C T intron_variant MELA-AU 5 16143382 16143382 single base substitution G A intron_variant MELA-AU 5 16143393 16143393 single base substitution C T intron_variant MELA-AU 5 16143445 16143445 single base substitution C T intron_variant MELA-AU 5 16143446 16143446 single base substitution C T intron_variant MELA-AU 5 16143468 16143468 single base substitution C T intron_variant MELA-AU 5 16143544 16143544 single base substitution C T intron_variant MELA-AU 5 16143546 16143546 single base substitution C T intron_variant MELA-AU 5 16143571 16143571 single base substitution C T intron_variant MELA-AU 5 16143589 16143589 single base substitution C T intron_variant MELA-AU 5 16143590 16143590 single base substitution G A intron_variant MELA-AU 5 16143758 16143758 single base substitution C T intron_variant MELA-AU 5 16143772 16143772 single base substitution C T intron_variant MELA-AU 5 16143792 16143792 single base substitution G A intron_variant MELA-AU 5 16143794 16143794 single base substitution G A intron_variant MELA-AU 5 16143944 16143944 single base substitution T C intron_variant MELA-AU 5 16144063 16144063 single base substitution C T intron_variant MELA-AU 5 16144182 16144182 single base substitution C T intron_variant MELA-AU 5 16144194 16144194 single base substitution G A intron_variant MELA-AU 5 16144238 16144238 single base substitution G A intron_variant MELA-AU 5 16144275 16144275 single base substitution G A intron_variant MELA-AU 5 16144387 16144387 single base substitution C T intron_variant MELA-AU 5 16144436 16144436 single base substitution G A intron_variant MELA-AU 5 16144457 16144457 single base substitution G A intron_variant MELA-AU 5 16144494 16144494 single base substitution C T intron_variant MELA-AU 5 16144518 16144518 single base substitution G A intron_variant MELA-AU 5 16144575 16144575 single base substitution C T intron_variant MELA-AU 5 16144666 16144666 single base substitution G A intron_variant MELA-AU 5 16144688 16144688 single base substitution C T intron_variant MELA-AU 5 16144704 16144704 single base substitution C T intron_variant MELA-AU 5 16144724 16144724 single base substitution G A intron_variant MELA-AU 5 16144869 16144869 single base substitution G A intron_variant MELA-AU 5 16144899 16144899 single base substitution G A intron_variant MELA-AU 5 16145006 16145006 single base substitution G A intron_variant MELA-AU 5 16145021 16145021 single base substitution G A intron_variant MELA-AU 5 16145261 16145261 single base substitution G A intron_variant MELA-AU 5 16145399 16145399 single base substitution G A intron_variant MELA-AU 5 16145547 16145547 single base substitution G A intron_variant MELA-AU 5 16145636 16145636 single base substitution C T intron_variant MELA-AU 5 16145779 16145779 single base substitution G A intron_variant MELA-AU 5 16145796 16145796 single base substitution G A intron_variant MELA-AU 5 16145890 16145890 single base substitution C T intron_variant MELA-AU 5 16145943 16145943 single base substitution C T intron_variant MELA-AU 5 16145999 16145999 single base substitution G A intron_variant MELA-AU 5 16146018 16146018 single base substitution C T intron_variant MELA-AU 5 16146155 16146155 single base substitution G A intron_variant MELA-AU 5 16146176 16146176 single base substitution A G intron_variant MELA-AU 5 16146255 16146255 single base substitution C T intron_variant MELA-AU 5 16146304 16146304 single base substitution G A intron_variant MELA-AU 5 16146443 16146443 single base substitution T C intron_variant MELA-AU 5 16146542 16146542 single base substitution G A intron_variant MELA-AU 5 16146630 16146630 single base substitution G A intron_variant MELA-AU 5 16146739 16146739 single base substitution G A intron_variant MELA-AU 5 16146808 16146808 single base substitution C T intron_variant MELA-AU 5 16146899 16146899 single base substitution G A intron_variant MELA-AU 5 16146928 16146928 single base substitution G A intron_variant MELA-AU 5 16146961 16146961 single base substitution C T intron_variant MELA-AU 5 16147022 16147022 single base substitution C T intron_variant MELA-AU 5 16147076 16147076 single base substitution G A intron_variant MELA-AU 5 16147127 16147127 single base substitution G A intron_variant MELA-AU 5 16147162 16147162 single base substitution C T intron_variant MELA-AU 5 16147171 16147171 single base substitution G A intron_variant MELA-AU 5 16147207 16147207 single base substitution C T intron_variant MELA-AU 5 16147283 16147283 single base substitution C T intron_variant MELA-AU 5 16147314 16147314 single base substitution C T intron_variant MELA-AU 5 16147372 16147372 single base substitution G A intron_variant MELA-AU 5 16147394 16147394 single base substitution C T intron_variant MELA-AU 5 16147401 16147401 single base substitution C T intron_variant MELA-AU 5 16147485 16147485 single base substitution C T intron_variant MELA-AU 5 16147525 16147525 single base substitution T C intron_variant MELA-AU 5 16147656 16147656 single base substitution G A intron_variant MELA-AU 5 16147731 16147731 single base substitution G A intron_variant MELA-AU 5 16147758 16147758 single base substitution G A intron_variant MELA-AU 5 16147915 16147915 single base substitution G A intron_variant MELA-AU 5 16147917 16147917 single base substitution C T intron_variant MELA-AU 5 16147943 16147943 single base substitution C T intron_variant MELA-AU 5 16147965 16147965 single base substitution C T intron_variant MELA-AU 5 16148073 16148073 single base substitution C T intron_variant MELA-AU 5 16148090 16148090 single base substitution C T intron_variant MELA-AU 5 16148109 16148109 single base substitution C T intron_variant MELA-AU 5 16148143 16148143 single base substitution G A intron_variant MELA-AU 5 16148204 16148204 single base substitution G A intron_variant MELA-AU 5 16148213 16148213 single base substitution A G intron_variant MELA-AU 5 16148258 16148258 single base substitution C T intron_variant MELA-AU 5 16148303 16148303 single base substitution G A intron_variant MELA-AU 5 16148354 16148354 single base substitution G A intron_variant MELA-AU 5 16148405 16148405 single base substitution C T intron_variant MELA-AU 5 16148452 16148452 single base substitution A T intron_variant MELA-AU 5 16148458 16148458 single base substitution C T intron_variant MELA-AU 5 16148485 16148485 single base substitution C T intron_variant MELA-AU 5 16148497 16148497 single base substitution C T intron_variant MELA-AU 5 16148505 16148505 single base substitution C T intron_variant MELA-AU 5 16148508 16148508 single base substitution C T intron_variant MELA-AU 5 16148631 16148631 single base substitution G A intron_variant MELA-AU 5 16148637 16148637 single base substitution G A intron_variant MELA-AU 5 16148741 16148741 single base substitution G A intron_variant MELA-AU 5 16148823 16148823 single base substitution G A intron_variant MELA-AU 5 16148967 16148967 single base substitution A G intron_variant MELA-AU 5 16149094 16149094 single base substitution G A intron_variant MELA-AU 5 16149126 16149126 single base substitution G A intron_variant MELA-AU 5 16149238 16149238 single base substitution C A intron_variant MELA-AU 5 16149249 16149249 single base substitution C T intron_variant MELA-AU 5 16149263 16149263 single base substitution C T intron_variant MELA-AU 5 16149343 16149343 single base substitution C T intron_variant MELA-AU 5 16149436 16149436 single base substitution C T intron_variant MELA-AU 5 16149437 16149437 single base substitution C T intron_variant MELA-AU 5 16149485 16149485 single base substitution C T intron_variant MELA-AU 5 16149495 16149495 single base substitution C T intron_variant MELA-AU 5 16149532 16149532 single base substitution G A intron_variant MELA-AU 5 16149579 16149579 single base substitution G A intron_variant MELA-AU 5 16149652 16149652 single base substitution G A intron_variant MELA-AU 5 16149674 16149674 single base substitution C T intron_variant MELA-AU 5 16149702 16149702 single base substitution C T intron_variant MELA-AU 5 16149740 16149740 single base substitution C T intron_variant MELA-AU 5 16149847 16149847 single base substitution C T intron_variant MELA-AU 5 16149926 16149926 single base substitution C T intron_variant MELA-AU 5 16149946 16149946 single base substitution G A intron_variant MELA-AU 5 16150002 16150002 single base substitution G A intron_variant MELA-AU 5 16150038 16150038 single base substitution A G intron_variant MELA-AU 5 16150056 16150056 single base substitution C T intron_variant MELA-AU 5 16150155 16150155 single base substitution G A intron_variant MELA-AU 5 16150347 16150347 single base substitution G A intron_variant MELA-AU 5 16150507 16150507 single base substitution C T intron_variant MELA-AU 5 16150547 16150547 single base substitution G A intron_variant MELA-AU 5 16150600 16150600 single base substitution G A intron_variant MELA-AU 5 16150756 16150756 single base substitution C T intron_variant MELA-AU 5 16150806 16150806 single base substitution C T intron_variant MELA-AU 5 16150807 16150807 single base substitution C T intron_variant MELA-AU 5 16150885 16150885 single base substitution C T intron_variant MELA-AU 5 16150981 16150981 single base substitution G A intron_variant MELA-AU 5 16150999 16150999 single base substitution C T intron_variant MELA-AU 5 16151324 16151324 single base substitution C T intron_variant MELA-AU 5 16151498 16151498 single base substitution A G intron_variant MELA-AU 5 16151537 16151537 single base substitution C T intron_variant MELA-AU 5 16151561 16151561 single base substitution C T intron_variant MELA-AU 5 16151580 16151580 single base substitution G A intron_variant MELA-AU 5 16151747 16151747 single base substitution G T intron_variant MELA-AU 5 16151851 16151851 single base substitution C T intron_variant MELA-AU 5 16151877 16151877 single base substitution C T intron_variant MELA-AU 5 16151942 16151942 single base substitution G A intron_variant MELA-AU 5 16151992 16151992 single base substitution T A intron_variant MELA-AU 5 16152048 16152048 single base substitution G A intron_variant MELA-AU 5 16152064 16152064 single base substitution C T intron_variant MELA-AU 5 16152123 16152123 single base substitution C T intron_variant MELA-AU 5 16152132 16152132 single base substitution G A intron_variant MELA-AU 5 16152169 16152169 single base substitution G A intron_variant MELA-AU 5 16152179 16152179 single base substitution C T intron_variant MELA-AU 5 16152201 16152201 single base substitution G A intron_variant MELA-AU 5 16152370 16152370 single base substitution C T intron_variant MELA-AU 5 16152662 16152662 single base substitution C T intron_variant MELA-AU 5 16152680 16152680 single base substitution C T intron_variant MELA-AU 5 16152734 16152734 single base substitution C T intron_variant MELA-AU 5 16152735 16152735 single base substitution C T intron_variant MELA-AU 5 16152751 16152751 single base substitution G A intron_variant MELA-AU 5 16152824 16152824 single base substitution C T intron_variant MELA-AU 5 16152839 16152839 single base substitution T C intron_variant MELA-AU 5 16152995 16152995 single base substitution T G intron_variant MELA-AU 5 16153083 16153083 single base substitution C T intron_variant MELA-AU 5 16153134 16153134 single base substitution G A intron_variant MELA-AU 5 16153190 16153190 single base substitution G A intron_variant MELA-AU 5 16153325 16153325 single base substitution G A intron_variant MELA-AU 5 16153336 16153336 single base substitution G A intron_variant MELA-AU 5 16153359 16153359 single base substitution G A intron_variant MELA-AU 5 16153417 16153417 single base substitution C T intron_variant MELA-AU 5 16153439 16153439 single base substitution G A intron_variant MELA-AU 5 16153460 16153460 single base substitution C T intron_variant MELA-AU 5 16153481 16153481 single base substitution G A intron_variant MELA-AU 5 16153563 16153563 single base substitution C T intron_variant MELA-AU 5 16153631 16153631 single base substitution G A intron_variant MELA-AU 5 16153672 16153672 single base substitution C T intron_variant MELA-AU 5 16153805 16153805 single base substitution C T intron_variant MELA-AU 5 16154025 16154025 single base substitution C T intron_variant MELA-AU 5 16154038 16154038 single base substitution G A intron_variant MELA-AU 5 16154058 16154059 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 16154059 16154059 single base substitution G A intron_variant MELA-AU 5 16154219 16154219 single base substitution T A intron_variant MELA-AU 5 16154241 16154241 single base substitution G A intron_variant MELA-AU 5 16154271 16154271 single base substitution C T intron_variant MELA-AU 5 16154275 16154275 single base substitution C T intron_variant MELA-AU 5 16154421 16154421 single base substitution C T intron_variant MELA-AU 5 16154525 16154525 single base substitution G A intron_variant MELA-AU 5 16154611 16154611 single base substitution C T intron_variant MELA-AU 5 16154711 16154711 single base substitution G A intron_variant MELA-AU 5 16154719 16154719 single base substitution G A intron_variant MELA-AU 5 16154721 16154721 single base substitution G A intron_variant MELA-AU 5 16154723 16154723 single base substitution G A intron_variant MELA-AU 5 16154846 16154846 single base substitution A T intron_variant MELA-AU 5 16154921 16154921 single base substitution C T intron_variant MELA-AU 5 16154942 16154942 single base substitution C T intron_variant MELA-AU 5 16154950 16154950 single base substitution C T intron_variant MELA-AU 5 16154962 16154962 single base substitution G A intron_variant MELA-AU 5 16154963 16154963 single base substitution G A intron_variant MELA-AU 5 16154969 16154969 single base substitution G A intron_variant MELA-AU 5 16155153 16155153 single base substitution A T intron_variant MELA-AU 5 16155162 16155162 single base substitution G A intron_variant MELA-AU 5 16155327 16155327 single base substitution C T intron_variant MELA-AU 5 16155429 16155429 single base substitution C T intron_variant MELA-AU 5 16155447 16155447 single base substitution G A intron_variant MELA-AU 5 16155478 16155478 single base substitution G A intron_variant MELA-AU 5 16155576 16155576 single base substitution C T intron_variant MELA-AU 5 16155673 16155673 single base substitution C T intron_variant MELA-AU 5 16155675 16155675 single base substitution C T intron_variant MELA-AU 5 16155802 16155802 single base substitution C T intron_variant MELA-AU 5 16155824 16155824 single base substitution G A intron_variant MELA-AU 5 16156056 16156056 single base substitution C T intron_variant MELA-AU 5 16156059 16156059 single base substitution C T intron_variant MELA-AU 5 16156099 16156099 single base substitution C T intron_variant MELA-AU 5 16156200 16156200 single base substitution C T intron_variant MELA-AU 5 16156470 16156470 single base substitution C T intron_variant MELA-AU 5 16156575 16156575 single base substitution C T intron_variant MELA-AU 5 16156580 16156580 single base substitution C T intron_variant MELA-AU 5 16156581 16156581 single base substitution C T intron_variant MELA-AU 5 16156907 16156907 single base substitution C T intron_variant MELA-AU 5 16157055 16157055 single base substitution C T intron_variant MELA-AU 5 16157149 16157150 deletion of <=200bp AA - intron_variant MELA-AU 5 16157324 16157324 single base substitution A T intron_variant MELA-AU 5 16157344 16157344 single base substitution G A intron_variant MELA-AU 5 16157425 16157425 single base substitution C T intron_variant MELA-AU 5 16157652 16157652 single base substitution G A intron_variant MELA-AU 5 16157663 16157663 single base substitution T G intron_variant MELA-AU 5 16157694 16157694 single base substitution G A intron_variant MELA-AU 5 16157739 16157739 single base substitution C T intron_variant MELA-AU 5 16157772 16157772 single base substitution C T intron_variant MELA-AU 5 16157826 16157826 single base substitution C T intron_variant MELA-AU 5 16157859 16157859 single base substitution G A intron_variant MELA-AU 5 16157867 16157867 single base substitution C T intron_variant MELA-AU 5 16158020 16158020 single base substitution G A intron_variant MELA-AU 5 16158050 16158050 single base substitution G A intron_variant MELA-AU 5 16158361 16158361 single base substitution G A intron_variant MELA-AU 5 16158380 16158380 single base substitution C T intron_variant MELA-AU 5 16158565 16158565 single base substitution C T intron_variant MELA-AU 5 16158952 16158952 single base substitution C T intron_variant MELA-AU 5 16159116 16159116 single base substitution G A intron_variant MELA-AU 5 16159229 16159229 single base substitution A T intron_variant MELA-AU 5 16159278 16159278 single base substitution G A intron_variant MELA-AU 5 16159288 16159288 single base substitution C T intron_variant MELA-AU 5 16159436 16159436 single base substitution C T intron_variant MELA-AU 5 16159456 16159456 single base substitution C T intron_variant MELA-AU 5 16159718 16159718 single base substitution G A intron_variant MELA-AU 5 16159730 16159730 single base substitution C T intron_variant MELA-AU 5 16159744 16159744 single base substitution G A intron_variant MELA-AU 5 16159764 16159764 single base substitution C T intron_variant MELA-AU 5 16159974 16159974 single base substitution C T intron_variant MELA-AU 5 16160005 16160005 single base substitution C A intron_variant MELA-AU 5 16160024 16160024 single base substitution C T intron_variant MELA-AU 5 16160140 16160153 deletion of <=200bp AAAAGAAGCCAAAA - intron_variant MELA-AU 5 16160596 16160596 single base substitution C T intron_variant MELA-AU 5 16160708 16160708 single base substitution C T intron_variant MELA-AU 5 16161848 16161848 single base substitution C T intron_variant MELA-AU 5 16161998 16161998 single base substitution G A intron_variant MELA-AU 5 16162105 16162105 single base substitution T A intron_variant MELA-AU 5 16162128 16162128 single base substitution G A intron_variant MELA-AU 5 16162168 16162168 single base substitution C T intron_variant MELA-AU 5 16162295 16162295 single base substitution C T intron_variant MELA-AU 5 16162470 16162470 single base substitution C T intron_variant MELA-AU 5 16162520 16162520 single base substitution G A intron_variant MELA-AU 5 16162554 16162554 single base substitution C T intron_variant MELA-AU 5 16162607 16162607 single base substitution C T intron_variant MELA-AU 5 16162610 16162610 single base substitution G A intron_variant MELA-AU 5 16162780 16162780 single base substitution T A intron_variant MELA-AU 5 16162972 16162972 single base substitution G A intron_variant MELA-AU 5 16163153 16163153 single base substitution C T intron_variant MELA-AU 5 16163163 16163163 single base substitution C T intron_variant MELA-AU 5 16163179 16163179 single base substitution G A intron_variant MELA-AU 5 16163264 16163264 single base substitution A T intron_variant MELA-AU 5 16163332 16163332 single base substitution C T intron_variant MELA-AU 5 16163390 16163390 single base substitution G A intron_variant MELA-AU 5 16163533 16163533 single base substitution C T intron_variant MELA-AU 5 16163601 16163601 single base substitution A G intron_variant MELA-AU 5 16163616 16163616 single base substitution G A intron_variant MELA-AU 5 16163635 16163635 single base substitution C T intron_variant MELA-AU 5 16163722 16163722 single base substitution G A intron_variant MELA-AU 5 16163789 16163789 single base substitution G A intron_variant MELA-AU 5 16163950 16163950 single base substitution G A intron_variant MELA-AU 5 16164013 16164013 single base substitution G A intron_variant MELA-AU 5 16164049 16164049 single base substitution C T intron_variant MELA-AU 5 16164162 16164162 single base substitution G A intron_variant MELA-AU 5 16164469 16164469 single base substitution G A intron_variant MELA-AU 5 16164568 16164568 single base substitution G A intron_variant MELA-AU 5 16164785 16164785 single base substitution G A intron_variant MELA-AU 5 16164844 16164844 single base substitution G A intron_variant MELA-AU 5 16165097 16165097 single base substitution G A intron_variant MELA-AU 5 16165104 16165104 single base substitution C T intron_variant MELA-AU 5 16165186 16165186 single base substitution C T intron_variant MELA-AU 5 16165190 16165190 single base substitution C T intron_variant MELA-AU 5 16165449 16165449 single base substitution C T intron_variant MELA-AU 5 16165637 16165637 single base substitution A G intron_variant MELA-AU 5 16165813 16165813 single base substitution G A intron_variant MELA-AU 5 16165907 16165907 single base substitution C T intron_variant MELA-AU 5 16165962 16165962 single base substitution G A intron_variant MELA-AU 5 16166162 16166162 single base substitution A G intron_variant MELA-AU 5 16166273 16166273 single base substitution G A intron_variant MELA-AU 5 16166330 16166330 single base substitution G A intron_variant MELA-AU 5 16166370 16166370 single base substitution G A intron_variant MELA-AU 5 16166388 16166388 single base substitution C A intron_variant MELA-AU 5 16166448 16166448 single base substitution C T intron_variant MELA-AU 5 16166557 16166557 single base substitution C T intron_variant MELA-AU 5 16167063 16167063 single base substitution A C intron_variant MELA-AU 5 16167297 16167297 single base substitution G A intron_variant MELA-AU 5 16167333 16167333 single base substitution A G intron_variant MELA-AU 5 16167463 16167463 single base substitution C T intron_variant MELA-AU 5 16167469 16167469 single base substitution C T intron_variant MELA-AU 5 16167534 16167534 single base substitution C T intron_variant MELA-AU 5 16167720 16167720 single base substitution C T intron_variant MELA-AU 5 16167984 16167984 single base substitution G A intron_variant MELA-AU 5 16168081 16168081 single base substitution C T intron_variant MELA-AU 5 16168215 16168215 single base substitution G A intron_variant MELA-AU 5 16168289 16168289 single base substitution C T intron_variant MELA-AU 5 16168306 16168306 single base substitution C T intron_variant MELA-AU 5 16168349 16168349 single base substitution G A intron_variant MELA-AU 5 16168376 16168376 single base substitution G A intron_variant MELA-AU 5 16168390 16168390 single base substitution C T intron_variant MELA-AU 5 16168663 16168663 single base substitution T G intron_variant MELA-AU 5 16168834 16168834 single base substitution G A intron_variant MELA-AU 5 16168862 16168862 single base substitution G A intron_variant MELA-AU 5 16168927 16168927 single base substitution C T intron_variant MELA-AU 5 16168928 16168928 single base substitution C T intron_variant MELA-AU 5 16168979 16168979 single base substitution G A intron_variant MELA-AU 5 16169067 16169067 single base substitution A C intron_variant MELA-AU 5 16169134 16169134 single base substitution C T intron_variant MELA-AU 5 16169264 16169264 single base substitution T G intron_variant MELA-AU 5 16169324 16169324 single base substitution G A intron_variant MELA-AU 5 16169340 16169340 single base substitution C T intron_variant MELA-AU 5 16169439 16169439 single base substitution C T intron_variant MELA-AU 5 16169503 16169503 single base substitution G T intron_variant MELA-AU 5 16169504 16169504 single base substitution G A intron_variant MELA-AU 5 16169595 16169595 single base substitution C T intron_variant MELA-AU 5 16169615 16169615 single base substitution G A intron_variant MELA-AU 5 16169616 16169616 single base substitution G A intron_variant MELA-AU 5 16169758 16169758 single base substitution C T intron_variant MELA-AU 5 16169795 16169795 single base substitution A G intron_variant MELA-AU 5 16169796 16169796 single base substitution G A intron_variant MELA-AU 5 16170023 16170023 single base substitution C T intron_variant MELA-AU 5 16170036 16170036 single base substitution C T intron_variant MELA-AU 5 16170092 16170092 single base substitution G A intron_variant MELA-AU 5 16170132 16170132 single base substitution C T intron_variant MELA-AU 5 16170134 16170134 single base substitution C T intron_variant MELA-AU 5 16170139 16170139 single base substitution G A intron_variant MELA-AU 5 16170170 16170170 single base substitution C T intron_variant MELA-AU 5 16170265 16170265 single base substitution C T intron_variant MELA-AU 5 16170518 16170518 single base substitution C T intron_variant MELA-AU 5 16170552 16170552 single base substitution G A intron_variant MELA-AU 5 16170560 16170560 single base substitution G A intron_variant MELA-AU 5 16170602 16170602 single base substitution G A intron_variant MELA-AU 5 16170678 16170678 single base substitution C T intron_variant MELA-AU 5 16170716 16170716 single base substitution C T intron_variant MELA-AU 5 16170788 16170788 single base substitution G A intron_variant MELA-AU 5 16170834 16170834 single base substitution G C intron_variant MELA-AU 5 16170927 16170927 single base substitution C T intron_variant MELA-AU 5 16170947 16170947 single base substitution G A intron_variant MELA-AU 5 16171175 16171175 single base substitution A G intron_variant MELA-AU 5 16171185 16171185 single base substitution G A intron_variant MELA-AU 5 16171362 16171362 single base substitution C T intron_variant MELA-AU 5 16171391 16171391 single base substitution C T intron_variant MELA-AU 5 16171467 16171467 single base substitution C T intron_variant MELA-AU 5 16171492 16171492 single base substitution T C intron_variant MELA-AU 5 16171566 16171566 single base substitution C T intron_variant MELA-AU 5 16171618 16171618 single base substitution G A intron_variant MELA-AU 5 16171669 16171669 single base substitution G A intron_variant MELA-AU 5 16171682 16171682 single base substitution C T intron_variant MELA-AU 5 16171802 16171802 single base substitution C T intron_variant MELA-AU 5 16171865 16171865 single base substitution C T intron_variant MELA-AU 5 16171882 16171882 single base substitution G A intron_variant MELA-AU 5 16171898 16171898 single base substitution C T intron_variant MELA-AU 5 16172044 16172044 single base substitution G A intron_variant MELA-AU 5 16172065 16172065 single base substitution G A intron_variant MELA-AU 5 16172206 16172206 single base substitution C T intron_variant MELA-AU 5 16172287 16172287 single base substitution G A intron_variant MELA-AU 5 16172313 16172313 single base substitution T A intron_variant MELA-AU 5 16172366 16172366 single base substitution G A intron_variant MELA-AU 5 16172381 16172381 single base substitution G A intron_variant MELA-AU 5 16172447 16172447 single base substitution C T intron_variant MELA-AU 5 16172591 16172591 single base substitution G A intron_variant MELA-AU 5 16172613 16172613 single base substitution G A intron_variant MELA-AU 5 16172847 16172847 single base substitution G A intron_variant MELA-AU 5 16172856 16172856 single base substitution C T intron_variant MELA-AU 5 16172860 16172860 single base substitution C T intron_variant MELA-AU 5 16172956 16172956 single base substitution C T intron_variant MELA-AU 5 16172969 16172969 single base substitution G T intron_variant MELA-AU 5 16172992 16172992 single base substitution C T intron_variant MELA-AU 5 16173073 16173073 single base substitution C T intron_variant MELA-AU 5 16173159 16173159 single base substitution G A intron_variant MELA-AU 5 16173172 16173172 single base substitution G A intron_variant MELA-AU 5 16173225 16173225 single base substitution C T intron_variant MELA-AU 5 16173233 16173233 single base substitution G A intron_variant MELA-AU 5 16173283 16173283 single base substitution G A intron_variant MELA-AU 5 16173308 16173308 single base substitution G A intron_variant MELA-AU 5 16173334 16173334 single base substitution T A intron_variant MELA-AU 5 16173581 16173581 single base substitution A T intron_variant MELA-AU 5 16173631 16173631 single base substitution G A intron_variant MELA-AU 5 16173636 16173636 single base substitution C T intron_variant MELA-AU 5 16173718 16173718 single base substitution G A intron_variant MELA-AU 5 16173762 16173762 single base substitution G A intron_variant MELA-AU 5 16173805 16173805 single base substitution G A intron_variant MELA-AU 5 16173892 16173892 single base substitution G A intron_variant MELA-AU 5 16173910 16173910 single base substitution C T intron_variant MELA-AU 5 16173914 16173914 single base substitution G A intron_variant MELA-AU 5 16174069 16174069 single base substitution T G intron_variant MELA-AU 5 16174220 16174220 single base substitution G A intron_variant MELA-AU 5 16174237 16174237 single base substitution A T intron_variant MELA-AU 5 16174345 16174345 single base substitution C T intron_variant MELA-AU 5 16174473 16174473 single base substitution T C intron_variant MELA-AU 5 16174491 16174491 single base substitution G A intron_variant MELA-AU 5 16174567 16174567 single base substitution C T intron_variant MELA-AU 5 16174594 16174594 single base substitution G A intron_variant MELA-AU 5 16174642 16174642 single base substitution C T intron_variant MELA-AU 5 16174660 16174660 single base substitution C T intron_variant MELA-AU 5 16174777 16174777 single base substitution A C intron_variant MELA-AU 5 16174812 16174812 single base substitution C T intron_variant MELA-AU 5 16174825 16174825 single base substitution G A intron_variant MELA-AU 5 16174893 16174893 single base substitution G A intron_variant MELA-AU 5 16174922 16174922 single base substitution C T intron_variant MELA-AU 5 16174977 16174977 single base substitution G A intron_variant MELA-AU 5 16175098 16175098 single base substitution C T intron_variant MELA-AU 5 16175126 16175126 single base substitution C T intron_variant MELA-AU 5 16175150 16175150 single base substitution G A intron_variant MELA-AU 5 16175203 16175203 single base substitution G A intron_variant MELA-AU 5 16175315 16175315 single base substitution G A intron_variant MELA-AU 5 16175453 16175453 single base substitution A T intron_variant MELA-AU 5 16175657 16175657 single base substitution C T intron_variant MELA-AU 5 16175667 16175667 single base substitution C T intron_variant MELA-AU 5 16175731 16175731 single base substitution C T intron_variant MELA-AU 5 16175795 16175795 single base substitution C T intron_variant MELA-AU 5 16175844 16175844 single base substitution C T intron_variant MELA-AU 5 16175929 16175929 single base substitution C T intron_variant MELA-AU 5 16176013 16176013 single base substitution A C intron_variant MELA-AU 5 16176078 16176078 single base substitution G A intron_variant MELA-AU 5 16176084 16176084 single base substitution G A intron_variant MELA-AU 5 16176235 16176235 single base substitution C T intron_variant MELA-AU 5 16176442 16176442 single base substitution G A intron_variant MELA-AU 5 16176500 16176500 single base substitution C T intron_variant MELA-AU 5 16176511 16176511 single base substitution C T intron_variant MELA-AU 5 16176527 16176527 single base substitution G A intron_variant MELA-AU 5 16176554 16176554 single base substitution C T intron_variant MELA-AU 5 16176662 16176662 single base substitution A G intron_variant MELA-AU 5 16176688 16176688 single base substitution C T intron_variant MELA-AU 5 16176760 16176760 single base substitution G A intron_variant MELA-AU 5 16176903 16176903 single base substitution G T intron_variant MELA-AU 5 16177037 16177037 deletion of <=200bp A - intron_variant MELA-AU 5 16177059 16177059 single base substitution C T intron_variant MELA-AU 5 16177139 16177139 single base substitution C T intron_variant MELA-AU 5 16177147 16177147 single base substitution C T intron_variant MELA-AU 5 16177535 16177535 single base substitution A T intron_variant MELA-AU 5 16177629 16177629 single base substitution C T intron_variant MELA-AU 5 16177725 16177725 single base substitution C T intron_variant MELA-AU 5 16177731 16177731 single base substitution A C intron_variant MELA-AU 5 16177758 16177758 single base substitution C T intron_variant MELA-AU 5 16177809 16177809 single base substitution G A intron_variant MELA-AU 5 16177880 16177880 single base substitution A C exon_variant MELA-AU 5 16177880 16177880 single base substitution A C missense_variant C19W 57T>G MELA-AU 5 16177880 16177880 single base substitution A C missense_variant C216W 648T>G MELA-AU 5 16177886 16177886 single base substitution A T exon_variant MELA-AU 5 16177886 16177886 single base substitution A T synonymous_variant L17L 51T>A MELA-AU 5 16177886 16177886 single base substitution A T synonymous_variant L214L 642T>A MELA-AU 5 16177895 16177895 single base substitution G A exon_variant MELA-AU 5 16177895 16177895 single base substitution G A synonymous_variant T14T 42C>T MELA-AU 5 16177895 16177895 single base substitution G A synonymous_variant T211T 633C>T MELA-AU 5 16177898 16177898 single base substitution C T exon_variant MELA-AU 5 16177898 16177898 single base substitution C T stop_gained W13* 39G>A MELA-AU 5 16177898 16177898 single base substitution C T stop_gained W210* 630G>A MELA-AU 5 16177990 16177990 single base substitution C T missense_variant G180S 538G>A MELA-AU 5 16177990 16177990 single base substitution C T splice_region_variant MELA-AU 5 16177990 16177990 single base substitution C T upstream_gene_variant MELA-AU 5 16178112 16178112 single base substitution G A intron_variant MELA-AU 5 16178112 16178112 single base substitution G A upstream_gene_variant MELA-AU 5 16178359 16178359 single base substitution C T intron_variant MELA-AU 5 16178359 16178359 single base substitution C T upstream_gene_variant MELA-AU 5 16178400 16178400 single base substitution C T intron_variant MELA-AU 5 16178400 16178400 single base substitution C T upstream_gene_variant MELA-AU 5 16178458 16178458 single base substitution C T intron_variant MELA-AU 5 16178458 16178458 single base substitution C T upstream_gene_variant MELA-AU 5 16178512 16178512 single base substitution G A intron_variant MELA-AU 5 16178512 16178512 single base substitution G A upstream_gene_variant MELA-AU 5 16178658 16178658 single base substitution C T intron_variant MELA-AU 5 16178658 16178658 single base substitution C T upstream_gene_variant MELA-AU 5 16178981 16178981 single base substitution G A intron_variant MELA-AU 5 16178981 16178981 single base substitution G A upstream_gene_variant MELA-AU 5 16180121 16180121 single base substitution C T intron_variant MELA-AU 5 16180121 16180121 single base substitution C T upstream_gene_variant MELA-AU 5 16180122 16180122 single base substitution C T intron_variant MELA-AU 5 16180122 16180122 single base substitution C T upstream_gene_variant MELA-AU 5 16180466 16180466 single base substitution A T intron_variant MELA-AU 5 16180466 16180466 single base substitution A T upstream_gene_variant MELA-AU 5 16180491 16180491 single base substitution C T intron_variant MELA-AU 5 16180491 16180491 single base substitution C T upstream_gene_variant MELA-AU 5 16180496 16180496 single base substitution C T intron_variant MELA-AU 5 16180496 16180496 single base substitution C T upstream_gene_variant MELA-AU 5 16180521 16180521 single base substitution T A intron_variant MELA-AU 5 16180521 16180521 single base substitution T A upstream_gene_variant MELA-AU 5 16180962 16180962 single base substitution C T upstream_gene_variant MELA-AU 5 16181042 16181042 single base substitution A G upstream_gene_variant MELA-AU 5 16181407 16181407 single base substitution G A upstream_gene_variant MELA-AU 5 16181640 16181640 single base substitution G A upstream_gene_variant MELA-AU 5 16181816 16181816 single base substitution C T upstream_gene_variant MELA-AU 5 16181981 16181981 single base substitution C T upstream_gene_variant MELA-AU 5 16181988 16181988 single base substitution G A upstream_gene_variant MELA-AU 5 16182099 16182099 single base substitution G A upstream_gene_variant MELA-AU 5 16182112 16182112 single base substitution G A upstream_gene_variant MELA-AU 5 16182244 16182244 single base substitution G A upstream_gene_variant MELA-AU 5 16182283 16182283 single base substitution G A upstream_gene_variant MELA-AU 5 16182284 16182284 single base substitution G A upstream_gene_variant MELA-AU 5 16182431 16182431 single base substitution T C upstream_gene_variant MELA-AU 5 16182434 16182434 single base substitution C T upstream_gene_variant MELA-AU 5 16182545 16182546 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 16182711 16182711 single base substitution C T upstream_gene_variant MELA-AU 5 16182716 16182716 single base substitution C T upstream_gene_variant MELA-AU 5 16182717 16182717 single base substitution C T upstream_gene_variant MELA-AU 5 16182848 16182848 single base substitution C T upstream_gene_variant MELA-AU 5 16182864 16182864 single base substitution A C upstream_gene_variant MELA-AU 5 16182930 16182930 single base substitution G A upstream_gene_variant MELA-AU 5 16183049 16183049 single base substitution C T upstream_gene_variant MELA-AU 5 16183061 16183061 single base substitution G A upstream_gene_variant MELA-AU 5 16183093 16183093 single base substitution G A upstream_gene_variant MELA-AU 5 16183190 16183190 single base substitution C T upstream_gene_variant MELA-AU 5 16183200 16183200 single base substitution C T upstream_gene_variant MELA-AU 5 16183201 16183201 single base substitution C T upstream_gene_variant MELA-AU 5 16183347 16183347 single base substitution G A upstream_gene_variant MELA-AU 5 16183351 16183351 single base substitution G A upstream_gene_variant MELA-AU 5 16183557 16183557 single base substitution C T upstream_gene_variant MELA-AU 5 16183576 16183576 single base substitution C T upstream_gene_variant MELA-AU 5 16183711 16183711 single base substitution C T upstream_gene_variant MELA-AU 5 16183711 16183712 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 16183877 16183877 single base substitution G A upstream_gene_variant MELA-AU 5 16183924 16183924 single base substitution C T upstream_gene_variant MELA-AU 5 16184013 16184013 single base substitution C T upstream_gene_variant MELA-AU 5 16184124 16184124 single base substitution G A upstream_gene_variant MELA-AU 5 16184257 16184257 single base substitution G A upstream_gene_variant MELA-AU 5 16184399 16184399 single base substitution G A upstream_gene_variant MELA-AU 5 16184412 16184412 single base substitution C T upstream_gene_variant MELA-AU 5 16184416 16184417 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 16184605 16184605 single base substitution G A upstream_gene_variant MELA-AU 5 16184672 16184672 single base substitution G A upstream_gene_variant MELA-AU 5 16184729 16184730 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 16184867 16184867 single base substitution C T upstream_gene_variant MELA-AU 5 16184887 16184887 single base substitution G A upstream_gene_variant MELA-AU 5 16184895 16184895 single base substitution G A upstream_gene_variant MELA-AU 5 16184912 16184912 single base substitution A T upstream_gene_variant MELA-AU 5 16184993 16184993 single base substitution T A upstream_gene_variant MELA-AU 5 16185135 16185135 single base substitution C T upstream_gene_variant MELA-AU 5 16185176 16185176 single base substitution G A upstream_gene_variant MELA-AU 5 16185210 16185210 single base substitution G A upstream_gene_variant MELA-AU 5 16185225 16185225 single base substitution C T upstream_gene_variant MELA-AU 5 16185405 16185405 single base substitution G A upstream_gene_variant MELA-AU 5 16185424 16185424 single base substitution A C upstream_gene_variant MELA-AU 5 16185701 16185701 single base substitution A C upstream_gene_variant MELA-AU 5 16185775 16185775 single base substitution G A upstream_gene_variant MELA-AU 5 16185792 16185792 single base substitution G A upstream_gene_variant ORCA-IN 5 16064296 16064296 deletion of <=200bp T - downstream_gene_variant ORCA-IN 5 16105663 16105663 single base substitution G A intron_variant ORCA-IN 5 16119212 16119212 single base substitution C G intron_variant ORCA-IN 5 16121596 16121596 single base substitution A G intron_variant ORCA-IN 5 16128225 16128225 single base substitution G A intron_variant ORCA-IN 5 16142520 16142520 single base substitution C A intron_variant ORCA-IN 5 16167270 16167270 single base substitution T C intron_variant ORCA-IN 5 16167774 16167774 single base substitution T C intron_variant ORCA-IN 5 16171448 16171448 single base substitution C A intron_variant ORCA-IN 5 16172025 16172025 single base substitution A G intron_variant ORCA-IN 5 16183622 16183622 single base substitution C G upstream_gene_variant ORCA-IN 5 16185101 16185101 single base substitution C G upstream_gene_variant OV-AU 5 16062996 16062996 single base substitution T C downstream_gene_variant OV-AU 5 16064993 16064993 single base substitution G T downstream_gene_variant OV-AU 5 16064994 16064994 single base substitution A T downstream_gene_variant OV-AU 5 16068561 16068561 single base substitution G A intron_variant OV-AU 5 16068963 16068963 single base substitution G A intron_variant OV-AU 5 16071604 16071604 single base substitution G A intron_variant OV-AU 5 16072782 16072782 single base substitution T C intron_variant OV-AU 5 16074397 16074397 single base substitution A T intron_variant OV-AU 5 16074398 16074398 single base substitution C T intron_variant OV-AU 5 16074399 16074399 single base substitution A T intron_variant OV-AU 5 16074719 16074719 single base substitution A G intron_variant OV-AU 5 16075362 16075362 single base substitution T C intron_variant OV-AU 5 16078279 16078279 single base substitution C T intron_variant OV-AU 5 16079692 16079692 single base substitution G A intron_variant OV-AU 5 16080118 16080118 single base substitution C A intron_variant OV-AU 5 16080533 16080533 single base substitution G A intron_variant OV-AU 5 16080554 16080554 single base substitution T G intron_variant OV-AU 5 16080555 16080555 single base substitution C A intron_variant OV-AU 5 16081414 16081414 single base substitution A C intron_variant OV-AU 5 16084028 16084028 single base substitution G T intron_variant OV-AU 5 16086369 16086369 single base substitution G A downstream_gene_variant OV-AU 5 16086369 16086369 single base substitution G A intron_variant OV-AU 5 16087735 16087735 single base substitution C G downstream_gene_variant OV-AU 5 16087735 16087735 single base substitution C G intron_variant OV-AU 5 16089110 16089110 single base substitution T C downstream_gene_variant OV-AU 5 16089110 16089110 single base substitution T C intron_variant OV-AU 5 16090861 16090861 single base substitution C A downstream_gene_variant OV-AU 5 16090861 16090861 single base substitution C A intron_variant OV-AU 5 16097498 16097498 single base substitution A G intron_variant OV-AU 5 16100838 16100838 single base substitution T G intron_variant OV-AU 5 16102738 16102738 single base substitution A T intron_variant OV-AU 5 16102829 16102829 single base substitution G C intron_variant OV-AU 5 16104086 16104086 single base substitution C A intron_variant OV-AU 5 16104728 16104728 single base substitution A G intron_variant OV-AU 5 16106632 16106632 single base substitution C T intron_variant OV-AU 5 16107096 16107096 single base substitution G A intron_variant OV-AU 5 16109739 16109739 single base substitution T C intron_variant OV-AU 5 16112736 16112736 single base substitution G A intron_variant OV-AU 5 16113151 16113151 single base substitution C G intron_variant OV-AU 5 16116157 16116157 single base substitution G T intron_variant OV-AU 5 16118202 16118202 single base substitution T C intron_variant OV-AU 5 16120540 16120540 single base substitution G T intron_variant OV-AU 5 16121255 16121255 single base substitution A G intron_variant OV-AU 5 16122483 16122483 single base substitution G T intron_variant OV-AU 5 16125744 16125744 single base substitution G C intron_variant OV-AU 5 16125831 16125831 single base substitution C A intron_variant OV-AU 5 16126698 16126698 single base substitution T C intron_variant OV-AU 5 16129369 16129369 single base substitution C T intron_variant OV-AU 5 16134506 16134506 single base substitution C T intron_variant OV-AU 5 16136203 16136203 single base substitution G A intron_variant OV-AU 5 16137706 16137706 single base substitution T A intron_variant OV-AU 5 16139424 16139424 single base substitution A G intron_variant OV-AU 5 16153083 16153083 single base substitution C G intron_variant OV-AU 5 16154391 16154391 single base substitution G A intron_variant OV-AU 5 16161463 16161463 single base substitution T A intron_variant OV-AU 5 16165061 16165061 single base substitution C A intron_variant OV-AU 5 16165126 16165126 single base substitution C T intron_variant OV-AU 5 16165704 16165704 single base substitution G A intron_variant OV-AU 5 16167065 16167065 single base substitution G A intron_variant OV-AU 5 16167622 16167622 single base substitution C T intron_variant OV-AU 5 16168918 16168918 single base substitution C G intron_variant OV-AU 5 16169993 16169993 single base substitution A G intron_variant OV-AU 5 16174412 16174412 single base substitution G T intron_variant OV-AU 5 16174554 16174554 single base substitution G T intron_variant OV-AU 5 16180270 16180270 single base substitution T G intron_variant OV-AU 5 16180270 16180270 single base substitution T G upstream_gene_variant OV-AU 5 16180298 16180298 single base substitution G T intron_variant OV-AU 5 16180298 16180298 single base substitution G T upstream_gene_variant OV-AU 5 16184817 16184817 single base substitution G C upstream_gene_variant PACA-AU 5 16063133 16063133 single base substitution C G downstream_gene_variant PACA-AU 5 16064294 16064294 single base substitution A T downstream_gene_variant PACA-AU 5 16064657 16064657 single base substitution T A downstream_gene_variant PACA-AU 5 16064837 16064837 single base substitution C T downstream_gene_variant PACA-AU 5 16065914 16065914 single base substitution C T downstream_gene_variant PACA-AU 5 16065920 16065920 single base substitution C T downstream_gene_variant PACA-AU 5 16066183 16066183 single base substitution C T downstream_gene_variant PACA-AU 5 16066579 16066579 single base substitution C G downstream_gene_variant PACA-AU 5 16066783 16066783 single base substitution A C downstream_gene_variant PACA-AU 5 16067590 16067590 single base substitution G A 3_prime_UTR_variant PACA-AU 5 16067590 16067590 single base substitution G A missense_variant T400I 1199C>T PACA-AU 5 16068555 16068555 deletion of <=200bp G - intron_variant PACA-AU 5 16069886 16069886 single base substitution A C intron_variant PACA-AU 5 16074311 16074311 single base substitution G A intron_variant PACA-AU 5 16074949 16074949 single base substitution G A intron_variant PACA-AU 5 16081937 16081937 deletion of <=200bp T - intron_variant PACA-AU 5 16082307 16082307 single base substitution G A intron_variant PACA-AU 5 16082390 16082390 single base substitution T G intron_variant PACA-AU 5 16082529 16082529 single base substitution T A intron_variant PACA-AU 5 16083811 16083811 single base substitution A C intron_variant PACA-AU 5 16084043 16084043 single base substitution G C intron_variant PACA-AU 5 16085646 16085646 single base substitution C A intron_variant PACA-AU 5 16085990 16085990 single base substitution A G intron_variant PACA-AU 5 16086342 16086342 single base substitution C T downstream_gene_variant PACA-AU 5 16086342 16086342 single base substitution C T intron_variant PACA-AU 5 16087045 16087045 single base substitution T A downstream_gene_variant PACA-AU 5 16087045 16087045 single base substitution T A intron_variant PACA-AU 5 16088934 16088934 single base substitution G A downstream_gene_variant PACA-AU 5 16088934 16088934 single base substitution G A intron_variant PACA-AU 5 16091001 16091001 single base substitution T C exon_variant PACA-AU 5 16091001 16091001 single base substitution T C intron_variant PACA-AU 5 16091001 16091001 single base substitution T C missense_variant I295V 883A>G PACA-AU 5 16092300 16092300 single base substitution T C intron_variant PACA-AU 5 16093400 16093400 single base substitution C A intron_variant PACA-AU 5 16093469 16093469 single base substitution A C intron_variant PACA-AU 5 16096986 16096986 single base substitution C T intron_variant PACA-AU 5 16098378 16098378 single base substitution G A intron_variant PACA-AU 5 16098886 16098886 single base substitution A T intron_variant PACA-AU 5 16099899 16099899 single base substitution C T intron_variant PACA-AU 5 16107860 16107860 single base substitution G C intron_variant PACA-AU 5 16108229 16108229 single base substitution C T intron_variant PACA-AU 5 16108838 16108838 single base substitution C T intron_variant PACA-AU 5 16109103 16109114 deletion of <=200bp CTTGGAAATTCA - intron_variant PACA-AU 5 16109439 16109439 single base substitution C A intron_variant PACA-AU 5 16109655 16109655 single base substitution C A intron_variant PACA-AU 5 16110227 16110227 single base substitution C T intron_variant PACA-AU 5 16110761 16110761 single base substitution G T intron_variant PACA-AU 5 16111402 16111402 single base substitution C A intron_variant PACA-AU 5 16112477 16112477 single base substitution C T intron_variant PACA-AU 5 16112563 16112563 single base substitution G A intron_variant PACA-AU 5 16112853 16112853 single base substitution G C intron_variant PACA-AU 5 16117875 16117875 single base substitution C T intron_variant PACA-AU 5 16118379 16118379 single base substitution A C intron_variant PACA-AU 5 16121284 16121284 single base substitution A G intron_variant PACA-AU 5 16127712 16127712 single base substitution G T intron_variant PACA-AU 5 16128767 16128767 single base substitution A G intron_variant PACA-AU 5 16129213 16129213 single base substitution C A intron_variant PACA-AU 5 16129638 16129638 single base substitution A C intron_variant PACA-AU 5 16129988 16129988 single base substitution C T intron_variant PACA-AU 5 16131065 16131065 single base substitution T C intron_variant PACA-AU 5 16135920 16135920 single base substitution G T intron_variant PACA-AU 5 16137164 16137164 single base substitution A G intron_variant PACA-AU 5 16142878 16142878 single base substitution G A intron_variant PACA-AU 5 16142925 16142925 single base substitution C T intron_variant PACA-AU 5 16143723 16143723 single base substitution C G intron_variant PACA-AU 5 16147924 16147924 single base substitution C A intron_variant PACA-AU 5 16148815 16148815 single base substitution C A intron_variant PACA-AU 5 16150821 16150821 single base substitution T C intron_variant PACA-AU 5 16151404 16151404 single base substitution C A intron_variant PACA-AU 5 16154321 16154321 single base substitution G T intron_variant PACA-AU 5 16155434 16155434 single base substitution C T intron_variant PACA-AU 5 16156221 16156221 single base substitution T C intron_variant PACA-AU 5 16160073 16160073 single base substitution C A intron_variant PACA-AU 5 16161800 16161800 single base substitution C T intron_variant PACA-AU 5 16167809 16167809 single base substitution C T intron_variant PACA-AU 5 16168278 16168278 single base substitution A G intron_variant PACA-AU 5 16169387 16169387 single base substitution G A intron_variant PACA-AU 5 16172471 16172471 single base substitution T A intron_variant PACA-AU 5 16172861 16172861 single base substitution A G intron_variant PACA-AU 5 16173338 16173338 single base substitution G T intron_variant PACA-AU 5 16177125 16177125 single base substitution C T intron_variant PACA-AU 5 16180337 16180337 single base substitution C T intron_variant PACA-AU 5 16180337 16180337 single base substitution C T upstream_gene_variant PACA-AU 5 16181802 16181802 single base substitution G A upstream_gene_variant PACA-AU 5 16184738 16184738 single base substitution C A upstream_gene_variant PACA-CA 5 16063662 16063662 single base substitution G A downstream_gene_variant PACA-CA 5 16063980 16063980 single base substitution C A downstream_gene_variant PACA-CA 5 16064133 16064133 single base substitution C T downstream_gene_variant PACA-CA 5 16064294 16064294 insertion of <=200bp - TAT downstream_gene_variant PACA-CA 5 16064294 16064294 single base substitution A T downstream_gene_variant PACA-CA 5 16064306 16064306 single base substitution T G downstream_gene_variant PACA-CA 5 16064308 16064308 single base substitution T G downstream_gene_variant PACA-CA 5 16064930 16064930 single base substitution C T downstream_gene_variant PACA-CA 5 16068528 16068528 single base substitution G A intron_variant PACA-CA 5 16069981 16069981 single base substitution A G intron_variant PACA-CA 5 16070621 16070621 single base substitution G A intron_variant PACA-CA 5 16072978 16072978 single base substitution A G intron_variant PACA-CA 5 16072979 16072979 single base substitution C T intron_variant PACA-CA 5 16073620 16073620 single base substitution T C intron_variant PACA-CA 5 16075006 16075006 single base substitution C A intron_variant PACA-CA 5 16075976 16075976 single base substitution C T intron_variant PACA-CA 5 16078223 16078223 single base substitution G A intron_variant PACA-CA 5 16079343 16079343 single base substitution C T intron_variant PACA-CA 5 16079374 16079374 single base substitution C A intron_variant PACA-CA 5 16080123 16080123 single base substitution G A intron_variant PACA-CA 5 16081825 16081825 single base substitution G A intron_variant PACA-CA 5 16083044 16083044 deletion of <=200bp A - intron_variant PACA-CA 5 16084453 16084453 single base substitution C T intron_variant PACA-CA 5 16084517 16084517 single base substitution C T intron_variant PACA-CA 5 16085063 16085063 single base substitution T C intron_variant PACA-CA 5 16085984 16085984 single base substitution G T intron_variant PACA-CA 5 16087979 16087979 single base substitution C A downstream_gene_variant PACA-CA 5 16087979 16087979 single base substitution C A intron_variant PACA-CA 5 16088020 16088020 single base substitution T G downstream_gene_variant PACA-CA 5 16088020 16088020 single base substitution T G intron_variant PACA-CA 5 16088115 16088115 single base substitution C T downstream_gene_variant PACA-CA 5 16088115 16088115 single base substitution C T intron_variant PACA-CA 5 16089886 16089886 single base substitution T G downstream_gene_variant PACA-CA 5 16089886 16089886 single base substitution T G intron_variant PACA-CA 5 16090317 16090317 single base substitution C T downstream_gene_variant PACA-CA 5 16090317 16090317 single base substitution C T intron_variant PACA-CA 5 16090795 16090795 insertion of <=200bp - T downstream_gene_variant PACA-CA 5 16090795 16090795 insertion of <=200bp - T intron_variant PACA-CA 5 16091041 16091041 single base substitution C T exon_variant PACA-CA 5 16091041 16091041 single base substitution C T intron_variant PACA-CA 5 16091041 16091041 single base substitution C T synonymous_variant Q281Q 843G>A PACA-CA 5 16092818 16092818 single base substitution G A intron_variant PACA-CA 5 16092869 16092869 single base substitution A G intron_variant PACA-CA 5 16093119 16093119 single base substitution A C intron_variant PACA-CA 5 16093121 16093121 single base substitution C A intron_variant PACA-CA 5 16093657 16093657 single base substitution C T intron_variant PACA-CA 5 16094103 16094103 single base substitution G A intron_variant PACA-CA 5 16094459 16094459 single base substitution A C intron_variant PACA-CA 5 16094644 16094644 single base substitution G A intron_variant PACA-CA 5 16095230 16095230 single base substitution A T intron_variant PACA-CA 5 16095241 16095241 single base substitution C A intron_variant PACA-CA 5 16097497 16097497 single base substitution G C intron_variant PACA-CA 5 16099406 16099406 single base substitution A C intron_variant PACA-CA 5 16100593 16100593 single base substitution G A intron_variant PACA-CA 5 16102194 16102194 single base substitution C T intron_variant PACA-CA 5 16102335 16102335 single base substitution C T intron_variant PACA-CA 5 16102606 16102606 single base substitution G A intron_variant PACA-CA 5 16103244 16103244 single base substitution A G intron_variant PACA-CA 5 16103782 16103782 single base substitution G A intron_variant PACA-CA 5 16105035 16105035 single base substitution C T intron_variant PACA-CA 5 16107921 16107921 single base substitution G A intron_variant PACA-CA 5 16108861 16108861 single base substitution G A intron_variant PACA-CA 5 16109676 16109676 single base substitution G A intron_variant PACA-CA 5 16109710 16109721 deletion of <=200bp AGTGTTTCTCTG - intron_variant PACA-CA 5 16109936 16109936 single base substitution C T intron_variant PACA-CA 5 16110156 16110156 single base substitution G A intron_variant PACA-CA 5 16110319 16110319 single base substitution G C intron_variant PACA-CA 5 16111316 16111316 single base substitution G A intron_variant PACA-CA 5 16115423 16115423 single base substitution G A intron_variant PACA-CA 5 16115572 16115572 single base substitution G A intron_variant PACA-CA 5 16116019 16116019 single base substitution A C intron_variant PACA-CA 5 16116617 16116617 single base substitution A G intron_variant PACA-CA 5 16118823 16118823 single base substitution C T intron_variant PACA-CA 5 16118863 16118863 single base substitution C T intron_variant PACA-CA 5 16119052 16119052 single base substitution A G intron_variant PACA-CA 5 16120973 16120973 single base substitution C T intron_variant PACA-CA 5 16121040 16121040 single base substitution A G intron_variant PACA-CA 5 16123893 16123893 single base substitution G A intron_variant PACA-CA 5 16124106 16124106 single base substitution A G intron_variant PACA-CA 5 16124606 16124606 single base substitution C T intron_variant PACA-CA 5 16125464 16125464 single base substitution G A intron_variant PACA-CA 5 16125847 16125847 single base substitution C T intron_variant PACA-CA 5 16126041 16126041 single base substitution T A intron_variant PACA-CA 5 16128660 16128660 single base substitution C T intron_variant PACA-CA 5 16130210 16130210 single base substitution G T intron_variant PACA-CA 5 16131659 16131659 single base substitution G T intron_variant PACA-CA 5 16131906 16131906 single base substitution A G intron_variant PACA-CA 5 16133179 16133179 single base substitution A C intron_variant PACA-CA 5 16133966 16133966 single base substitution G T intron_variant PACA-CA 5 16134959 16134959 single base substitution A T intron_variant PACA-CA 5 16135111 16135111 single base substitution A T intron_variant PACA-CA 5 16136226 16136226 deletion of <=200bp A - intron_variant PACA-CA 5 16136572 16136572 single base substitution G A intron_variant PACA-CA 5 16136855 16136855 single base substitution A T intron_variant PACA-CA 5 16136881 16136881 single base substitution A T intron_variant PACA-CA 5 16136896 16136896 single base substitution A T intron_variant PACA-CA 5 16138843 16138843 single base substitution G A intron_variant PACA-CA 5 16143365 16143365 single base substitution G A intron_variant PACA-CA 5 16144406 16144406 single base substitution T C intron_variant PACA-CA 5 16144482 16144482 single base substitution C T intron_variant PACA-CA 5 16144689 16144689 single base substitution G A intron_variant PACA-CA 5 16146436 16146436 single base substitution C A intron_variant PACA-CA 5 16148540 16148540 single base substitution T A intron_variant PACA-CA 5 16148723 16148723 single base substitution T C intron_variant PACA-CA 5 16149162 16149162 single base substitution C T intron_variant PACA-CA 5 16149624 16149624 single base substitution T C intron_variant PACA-CA 5 16152723 16152723 single base substitution G A intron_variant PACA-CA 5 16155482 16155482 single base substitution A C intron_variant PACA-CA 5 16155633 16155633 single base substitution C T intron_variant PACA-CA 5 16156041 16156041 single base substitution C G intron_variant PACA-CA 5 16156499 16156499 single base substitution T G intron_variant PACA-CA 5 16158577 16158577 single base substitution A C intron_variant PACA-CA 5 16159237 16159237 single base substitution C A intron_variant PACA-CA 5 16159316 16159316 single base substitution A T intron_variant PACA-CA 5 16168712 16168712 single base substitution G A intron_variant PACA-CA 5 16170533 16170533 single base substitution G T intron_variant PACA-CA 5 16175943 16175943 single base substitution C T intron_variant PACA-CA 5 16177344 16177344 single base substitution G C intron_variant PACA-CA 5 16177386 16177386 single base substitution T A intron_variant PACA-CA 5 16178303 16178303 single base substitution G A intron_variant PACA-CA 5 16178303 16178303 single base substitution G A upstream_gene_variant PACA-CA 5 16181554 16181554 single base substitution G T upstream_gene_variant PACA-CA 5 16182892 16182892 single base substitution C T upstream_gene_variant PACA-CA 5 16183797 16183797 single base substitution T A upstream_gene_variant PACA-CA 5 16185374 16185374 single base substitution A G upstream_gene_variant PAEN-AU 5 16067227 16067227 single base substitution T C downstream_gene_variant PAEN-AU 5 16084175 16084175 single base substitution C T intron_variant PAEN-AU 5 16096836 16096836 single base substitution C A intron_variant PAEN-AU 5 16105550 16105550 single base substitution A C intron_variant PAEN-AU 5 16107094 16107094 single base substitution A C intron_variant PAEN-AU 5 16178312 16178312 single base substitution C T intron_variant PAEN-AU 5 16178312 16178312 single base substitution C T upstream_gene_variant PAEN-AU 5 16180378 16180378 single base substitution A C intron_variant PAEN-AU 5 16180378 16180378 single base substitution A C upstream_gene_variant PAEN-IT 5 16090317 16090317 single base substitution C T downstream_gene_variant PAEN-IT 5 16090317 16090317 single base substitution C T intron_variant PAEN-IT 5 16094054 16094054 single base substitution C G intron_variant PAEN-IT 5 16118687 16118687 single base substitution G A intron_variant PAEN-IT 5 16146835 16146835 single base substitution G A intron_variant PBCA-DE 5 16062545 16062545 insertion of <=200bp - T downstream_gene_variant PBCA-DE 5 16069240 16069240 single base substitution G A intron_variant PBCA-DE 5 16070096 16070096 single base substitution T A intron_variant PBCA-DE 5 16072372 16072372 single base substitution C A intron_variant PBCA-DE 5 16081713 16081713 single base substitution C T intron_variant PBCA-DE 5 16085103 16085104 deletion of <=200bp GT - intron_variant PBCA-DE 5 16095099 16095099 single base substitution G A intron_variant PBCA-DE 5 16095551 16095551 single base substitution G A intron_variant PBCA-DE 5 16097656 16097656 insertion of <=200bp - T intron_variant PBCA-DE 5 16101464 16101464 single base substitution A G intron_variant PBCA-DE 5 16105024 16105025 deletion of <=200bp AC - intron_variant PBCA-DE 5 16106902 16106902 deletion of <=200bp A - intron_variant PBCA-DE 5 16109213 16109214 deletion of <=200bp AC - intron_variant PBCA-DE 5 16110399 16110399 single base substitution A T intron_variant PBCA-DE 5 16114236 16114236 deletion of <=200bp T - intron_variant PBCA-DE 5 16133635 16133635 single base substitution G T intron_variant PBCA-DE 5 16133759 16133760 deletion of <=200bp CA - intron_variant PBCA-DE 5 16136242 16136242 single base substitution A T intron_variant PBCA-DE 5 16145275 16145275 single base substitution A C intron_variant PBCA-DE 5 16145574 16145574 single base substitution C T intron_variant PBCA-DE 5 16152281 16152281 insertion of <=200bp - T intron_variant PBCA-DE 5 16161969 16161969 single base substitution G T intron_variant PBCA-DE 5 16162960 16162960 single base substitution A G intron_variant PBCA-DE 5 16164534 16164534 single base substitution C T intron_variant PBCA-DE 5 16167785 16167785 single base substitution G A intron_variant PBCA-DE 5 16171694 16171694 deletion of <=200bp G - intron_variant PBCA-DE 5 16173349 16173349 single base substitution A C intron_variant PBCA-DE 5 16180222 16180222 single base substitution T C intron_variant PBCA-DE 5 16180222 16180222 single base substitution T C upstream_gene_variant PBCA-DE 5 16183841 16183841 single base substitution C T upstream_gene_variant PBCA-DE 5 16185845 16185845 single base substitution C T upstream_gene_variant PRAD-CA 5 16084542 16084542 single base substitution A C intron_variant PRAD-CA 5 16103870 16103870 single base substitution C T intron_variant PRAD-CA 5 16104255 16104255 single base substitution T C intron_variant PRAD-CA 5 16107981 16107981 single base substitution T C intron_variant PRAD-CA 5 16114836 16114836 single base substitution C T intron_variant PRAD-CA 5 16125730 16125730 single base substitution G C intron_variant PRAD-CA 5 16135109 16135109 single base substitution A T intron_variant PRAD-CA 5 16141481 16141481 single base substitution C T intron_variant PRAD-CA 5 16151757 16151757 single base substitution A T intron_variant PRAD-CA 5 16156892 16156892 single base substitution G T intron_variant PRAD-CA 5 16177824 16177824 single base substitution A G intron_variant PRAD-CA 5 16178619 16178619 single base substitution T C intron_variant PRAD-CA 5 16178619 16178619 single base substitution T C upstream_gene_variant PRAD-CA 5 16178819 16178819 single base substitution A G intron_variant PRAD-CA 5 16178819 16178819 single base substitution A G upstream_gene_variant PRAD-CA 5 16181760 16181760 single base substitution G A upstream_gene_variant PRAD-UK 5 16064241 16064241 single base substitution C G downstream_gene_variant PRAD-UK 5 16065663 16065663 single base substitution G A downstream_gene_variant PRAD-UK 5 16066184 16066184 single base substitution G A downstream_gene_variant PRAD-UK 5 16066756 16066756 single base substitution A C downstream_gene_variant PRAD-UK 5 16068835 16068835 single base substitution G T intron_variant PRAD-UK 5 16076177 16076177 single base substitution A T intron_variant PRAD-UK 5 16084593 16084593 single base substitution A G intron_variant PRAD-UK 5 16085877 16085877 single base substitution C T intron_variant PRAD-UK 5 16086092 16086092 single base substitution T G downstream_gene_variant PRAD-UK 5 16086092 16086092 single base substitution T G intron_variant PRAD-UK 5 16086459 16086459 single base substitution G C downstream_gene_variant PRAD-UK 5 16086459 16086459 single base substitution G C intron_variant PRAD-UK 5 16117397 16117397 single base substitution A G intron_variant PRAD-UK 5 16118043 16118043 single base substitution C T intron_variant PRAD-UK 5 16118256 16118256 single base substitution G C intron_variant PRAD-UK 5 16126562 16126562 single base substitution A T intron_variant PRAD-UK 5 16127364 16127364 single base substitution T A intron_variant PRAD-UK 5 16139179 16139192 multiple base substitution (>=2bp and <=200bp) TTTTGAAACATGAG TATGAGATTT intron_variant PRAD-UK 5 16142472 16142472 single base substitution C T intron_variant PRAD-UK 5 16146096 16146096 single base substitution G A intron_variant PRAD-UK 5 16149437 16149437 single base substitution C T intron_variant PRAD-UK 5 16153932 16153932 single base substitution G T intron_variant PRAD-UK 5 16155757 16155757 single base substitution T A intron_variant PRAD-UK 5 16163722 16163722 single base substitution G T intron_variant PRAD-UK 5 16169326 16169326 single base substitution G C intron_variant PRAD-UK 5 16180140 16180148 deletion of <=200bp GGGGCGGAT - intron_variant PRAD-UK 5 16180140 16180148 deletion of <=200bp GGGGCGGAT - upstream_gene_variant PRAD-UK 5 16184245 16184245 single base substitution T C upstream_gene_variant PRAD-UK 5 16185013 16185013 single base substitution C G upstream_gene_variant READ-US 5 16067614 16067614 single base substitution G A 3_prime_UTR_variant READ-US 5 16067614 16067614 single base substitution G A missense_variant S392L 1175C>T READ-US 5 16067884 16067884 single base substitution C T missense_variant E41K 121G>A READ-US 5 16067884 16067884 single base substitution C T missense_variant G302E 905G>A RECA-EU 5 16067901 16067901 single base substitution A T missense_variant V35D 104T>A RECA-EU 5 16067901 16067901 single base substitution A T splice_region_variant RECA-EU 5 16068396 16068396 single base substitution T A intron_variant RECA-EU 5 16068436 16068436 single base substitution A G intron_variant RECA-EU 5 16069639 16069639 single base substitution T A intron_variant RECA-EU 5 16069899 16069899 single base substitution T C intron_variant RECA-EU 5 16076835 16076835 single base substitution G A intron_variant RECA-EU 5 16078621 16078621 single base substitution C T intron_variant RECA-EU 5 16079690 16079690 single base substitution G A intron_variant RECA-EU 5 16080464 16080464 single base substitution C T intron_variant RECA-EU 5 16082272 16082272 single base substitution G A intron_variant RECA-EU 5 16091476 16091476 single base substitution T C intron_variant RECA-EU 5 16094357 16094357 single base substitution A T intron_variant RECA-EU 5 16099944 16099944 single base substitution C T intron_variant RECA-EU 5 16100296 16100296 single base substitution C G intron_variant RECA-EU 5 16101405 16101405 single base substitution A G intron_variant RECA-EU 5 16101519 16101519 single base substitution A G intron_variant RECA-EU 5 16103625 16103625 single base substitution G T intron_variant RECA-EU 5 16105139 16105139 single base substitution C A intron_variant RECA-EU 5 16108699 16108699 single base substitution A T intron_variant RECA-EU 5 16112397 16112397 single base substitution C A intron_variant RECA-EU 5 16116000 16116000 single base substitution T C intron_variant RECA-EU 5 16127202 16127202 single base substitution A T intron_variant RECA-EU 5 16132198 16132198 single base substitution G T intron_variant RECA-EU 5 16132855 16132855 single base substitution T A intron_variant RECA-EU 5 16135388 16135388 single base substitution C A intron_variant RECA-EU 5 16140968 16140968 single base substitution C A intron_variant RECA-EU 5 16146011 16146011 single base substitution A T intron_variant RECA-EU 5 16146431 16146431 single base substitution G A intron_variant RECA-EU 5 16147070 16147070 single base substitution G T intron_variant RECA-EU 5 16147199 16147199 single base substitution T C intron_variant RECA-EU 5 16150989 16150989 single base substitution C T intron_variant RECA-EU 5 16155524 16155524 single base substitution T A intron_variant RECA-EU 5 16159229 16159229 single base substitution A C intron_variant RECA-EU 5 16169116 16169116 single base substitution A T intron_variant RECA-EU 5 16170304 16170304 single base substitution A C intron_variant RECA-EU 5 16180646 16180646 single base substitution T A intron_variant RECA-EU 5 16180646 16180646 single base substitution T A upstream_gene_variant RECA-EU 5 16181040 16181040 single base substitution G A upstream_gene_variant RECA-EU 5 16182071 16182071 single base substitution A G upstream_gene_variant SKCA-BR 5 16064220 16064220 single base substitution C T downstream_gene_variant SKCA-BR 5 16065028 16065028 single base substitution G A downstream_gene_variant SKCA-BR 5 16065718 16065718 single base substitution G A downstream_gene_variant SKCA-BR 5 16065752 16065752 single base substitution T A downstream_gene_variant SKCA-BR 5 16065767 16065767 single base substitution C T downstream_gene_variant SKCA-BR 5 16065787 16065787 single base substitution C T downstream_gene_variant SKCA-BR 5 16066195 16066195 single base substitution C T downstream_gene_variant SKCA-BR 5 16066594 16066594 single base substitution C T downstream_gene_variant SKCA-BR 5 16066990 16066990 single base substitution C T downstream_gene_variant SKCA-BR 5 16067228 16067228 single base substitution G A downstream_gene_variant SKCA-BR 5 16067955 16067955 single base substitution G A intron_variant SKCA-BR 5 16067956 16067956 single base substitution G A intron_variant SKCA-BR 5 16068542 16068542 single base substitution G A intron_variant SKCA-BR 5 16068854 16068854 single base substitution C T intron_variant SKCA-BR 5 16068864 16068864 single base substitution C T intron_variant SKCA-BR 5 16069048 16069048 single base substitution A T intron_variant SKCA-BR 5 16069444 16069444 single base substitution C A intron_variant SKCA-BR 5 16070443 16070443 single base substitution C T intron_variant SKCA-BR 5 16070928 16070928 single base substitution G A intron_variant SKCA-BR 5 16071665 16071665 single base substitution C T intron_variant SKCA-BR 5 16071824 16071824 single base substitution G A intron_variant SKCA-BR 5 16072259 16072259 single base substitution C T intron_variant SKCA-BR 5 16072619 16072623 deletion of <=200bp CTGTG - intron_variant SKCA-BR 5 16072777 16072777 single base substitution T C intron_variant SKCA-BR 5 16073081 16073081 single base substitution C T intron_variant SKCA-BR 5 16074276 16074276 single base substitution G A intron_variant SKCA-BR 5 16074887 16074887 single base substitution G A intron_variant SKCA-BR 5 16075312 16075312 single base substitution C T intron_variant SKCA-BR 5 16075700 16075700 single base substitution G A intron_variant SKCA-BR 5 16077909 16077909 single base substitution C T intron_variant SKCA-BR 5 16078026 16078026 single base substitution G A intron_variant SKCA-BR 5 16078048 16078048 single base substitution A G intron_variant SKCA-BR 5 16078420 16078420 single base substitution G A intron_variant SKCA-BR 5 16078699 16078699 single base substitution C T intron_variant SKCA-BR 5 16078811 16078811 single base substitution C T intron_variant SKCA-BR 5 16078831 16078831 single base substitution G A intron_variant SKCA-BR 5 16079684 16079684 single base substitution G A intron_variant SKCA-BR 5 16080021 16080021 single base substitution C T intron_variant SKCA-BR 5 16080026 16080026 single base substitution C T intron_variant SKCA-BR 5 16080157 16080157 single base substitution C T intron_variant SKCA-BR 5 16080158 16080158 single base substitution C T intron_variant SKCA-BR 5 16080251 16080251 single base substitution C T intron_variant SKCA-BR 5 16080857 16080857 single base substitution C T intron_variant SKCA-BR 5 16081057 16081057 single base substitution C T intron_variant SKCA-BR 5 16081954 16081954 single base substitution G A intron_variant SKCA-BR 5 16082044 16082044 single base substitution C T intron_variant SKCA-BR 5 16082936 16082936 single base substitution C T intron_variant SKCA-BR 5 16083324 16083324 single base substitution C T intron_variant SKCA-BR 5 16083418 16083419 deletion of <=200bp TC - intron_variant SKCA-BR 5 16083922 16083922 single base substitution C T intron_variant SKCA-BR 5 16083945 16083945 single base substitution C T intron_variant SKCA-BR 5 16084803 16084803 single base substitution C T intron_variant SKCA-BR 5 16084818 16084818 single base substitution G A intron_variant SKCA-BR 5 16084863 16084863 insertion of <=200bp - CA intron_variant SKCA-BR 5 16085313 16085314 deletion of <=200bp AT - intron_variant SKCA-BR 5 16085319 16085319 single base substitution T A intron_variant SKCA-BR 5 16085343 16085343 single base substitution C T intron_variant SKCA-BR 5 16085366 16085366 single base substitution G A intron_variant SKCA-BR 5 16085367 16085367 single base substitution G A intron_variant SKCA-BR 5 16085645 16085645 single base substitution C T intron_variant SKCA-BR 5 16085703 16085703 single base substitution G A intron_variant SKCA-BR 5 16086262 16086262 single base substitution A G downstream_gene_variant SKCA-BR 5 16086262 16086262 single base substitution A G intron_variant SKCA-BR 5 16086952 16086952 single base substitution G A downstream_gene_variant SKCA-BR 5 16086952 16086952 single base substitution G A intron_variant SKCA-BR 5 16087787 16087787 single base substitution G A downstream_gene_variant SKCA-BR 5 16087787 16087787 single base substitution G A intron_variant SKCA-BR 5 16087898 16087898 single base substitution C T downstream_gene_variant SKCA-BR 5 16087898 16087898 single base substitution C T intron_variant SKCA-BR 5 16088606 16088606 single base substitution G A downstream_gene_variant SKCA-BR 5 16088606 16088606 single base substitution G A intron_variant SKCA-BR 5 16089235 16089235 single base substitution G A downstream_gene_variant SKCA-BR 5 16089235 16089235 single base substitution G A intron_variant SKCA-BR 5 16089296 16089296 single base substitution C T downstream_gene_variant SKCA-BR 5 16089296 16089296 single base substitution C T intron_variant SKCA-BR 5 16089647 16089647 single base substitution C T downstream_gene_variant SKCA-BR 5 16089647 16089647 single base substitution C T intron_variant SKCA-BR 5 16090386 16090386 single base substitution G A downstream_gene_variant SKCA-BR 5 16090386 16090386 single base substitution G A intron_variant SKCA-BR 5 16091910 16091910 single base substitution C T intron_variant SKCA-BR 5 16091922 16091922 single base substitution G A intron_variant SKCA-BR 5 16091939 16091939 single base substitution G A intron_variant SKCA-BR 5 16092137 16092137 single base substitution G A intron_variant SKCA-BR 5 16092282 16092282 single base substitution C T intron_variant SKCA-BR 5 16093348 16093348 single base substitution G A intron_variant SKCA-BR 5 16093872 16093872 single base substitution G A intron_variant SKCA-BR 5 16094208 16094208 single base substitution G A intron_variant SKCA-BR 5 16094688 16094688 single base substitution G A intron_variant SKCA-BR 5 16095572 16095572 insertion of <=200bp - GGGAA intron_variant SKCA-BR 5 16096265 16096265 single base substitution G A intron_variant SKCA-BR 5 16096356 16096356 single base substitution C T intron_variant SKCA-BR 5 16096774 16096774 single base substitution G A intron_variant SKCA-BR 5 16096800 16096800 single base substitution G A intron_variant SKCA-BR 5 16096986 16096986 single base substitution C T intron_variant SKCA-BR 5 16097465 16097465 single base substitution C A intron_variant SKCA-BR 5 16097886 16097886 single base substitution C T intron_variant SKCA-BR 5 16098019 16098019 single base substitution C T intron_variant SKCA-BR 5 16098282 16098282 single base substitution C T intron_variant SKCA-BR 5 16098978 16098978 single base substitution G A intron_variant SKCA-BR 5 16099180 16099180 single base substitution C T intron_variant SKCA-BR 5 16099211 16099211 single base substitution G A intron_variant SKCA-BR 5 16099907 16099907 single base substitution C T intron_variant SKCA-BR 5 16100567 16100567 single base substitution G A intron_variant SKCA-BR 5 16100592 16100592 single base substitution C T intron_variant SKCA-BR 5 16100639 16100639 single base substitution G A intron_variant SKCA-BR 5 16100993 16100993 single base substitution G A intron_variant SKCA-BR 5 16101061 16101061 single base substitution C T intron_variant SKCA-BR 5 16101597 16101597 single base substitution G A intron_variant SKCA-BR 5 16102001 16102001 single base substitution G A intron_variant SKCA-BR 5 16102332 16102332 single base substitution G A intron_variant SKCA-BR 5 16102495 16102495 single base substitution C T intron_variant SKCA-BR 5 16102650 16102650 single base substitution G T intron_variant SKCA-BR 5 16102925 16102925 single base substitution C T intron_variant SKCA-BR 5 16103191 16103191 single base substitution G A intron_variant SKCA-BR 5 16103220 16103220 insertion of <=200bp - GA intron_variant SKCA-BR 5 16103873 16103873 single base substitution C T intron_variant SKCA-BR 5 16104102 16104102 single base substitution G A intron_variant SKCA-BR 5 16104324 16104324 single base substitution C T intron_variant SKCA-BR 5 16104655 16104655 single base substitution C T intron_variant SKCA-BR 5 16104962 16104962 single base substitution C T intron_variant SKCA-BR 5 16105411 16105411 single base substitution G T intron_variant SKCA-BR 5 16106324 16106324 single base substitution G A intron_variant SKCA-BR 5 16106390 16106390 single base substitution C T intron_variant SKCA-BR 5 16106391 16106391 single base substitution C T intron_variant SKCA-BR 5 16107811 16107811 single base substitution C T intron_variant SKCA-BR 5 16108602 16108602 single base substitution G A intron_variant SKCA-BR 5 16108621 16108621 single base substitution C T intron_variant SKCA-BR 5 16109093 16109093 single base substitution C T intron_variant SKCA-BR 5 16109566 16109566 single base substitution T G intron_variant SKCA-BR 5 16109671 16109671 single base substitution G C intron_variant SKCA-BR 5 16109870 16109870 single base substitution G A intron_variant SKCA-BR 5 16110148 16110148 single base substitution C T intron_variant SKCA-BR 5 16110975 16110975 single base substitution C T intron_variant SKCA-BR 5 16111029 16111029 single base substitution C T intron_variant SKCA-BR 5 16111408 16111408 single base substitution G A intron_variant SKCA-BR 5 16111603 16111603 single base substitution G A intron_variant SKCA-BR 5 16111621 16111621 single base substitution G A intron_variant SKCA-BR 5 16111692 16111692 single base substitution G A intron_variant SKCA-BR 5 16111869 16111869 single base substitution G A intron_variant SKCA-BR 5 16111943 16111943 single base substitution C T intron_variant SKCA-BR 5 16111980 16111980 single base substitution T C intron_variant SKCA-BR 5 16112007 16112007 single base substitution G A intron_variant SKCA-BR 5 16112232 16112232 single base substitution G A intron_variant SKCA-BR 5 16112510 16112510 single base substitution G A intron_variant SKCA-BR 5 16112777 16112777 single base substitution G A intron_variant SKCA-BR 5 16112796 16112796 single base substitution G A intron_variant SKCA-BR 5 16112952 16112952 single base substitution C T intron_variant SKCA-BR 5 16113588 16113588 single base substitution T C intron_variant SKCA-BR 5 16114129 16114129 single base substitution C T intron_variant SKCA-BR 5 16114150 16114150 single base substitution G A intron_variant SKCA-BR 5 16115319 16115319 single base substitution C T intron_variant SKCA-BR 5 16116370 16116370 single base substitution G A intron_variant SKCA-BR 5 16116439 16116439 single base substitution G A intron_variant SKCA-BR 5 16117332 16117332 single base substitution G A intron_variant SKCA-BR 5 16118635 16118635 single base substitution C T intron_variant SKCA-BR 5 16118744 16118744 single base substitution G A intron_variant SKCA-BR 5 16118778 16118778 single base substitution C T intron_variant SKCA-BR 5 16118961 16118961 single base substitution G A intron_variant SKCA-BR 5 16119025 16119025 single base substitution A G intron_variant SKCA-BR 5 16119050 16119050 single base substitution T G intron_variant SKCA-BR 5 16119054 16119054 single base substitution G T intron_variant SKCA-BR 5 16119076 16119076 single base substitution C T intron_variant SKCA-BR 5 16120419 16120419 single base substitution C A intron_variant SKCA-BR 5 16121719 16121719 single base substitution G A intron_variant SKCA-BR 5 16122974 16122974 single base substitution C T intron_variant SKCA-BR 5 16123045 16123045 single base substitution C T intron_variant SKCA-BR 5 16123427 16123427 single base substitution G T intron_variant SKCA-BR 5 16123928 16123928 single base substitution C T intron_variant SKCA-BR 5 16124011 16124011 single base substitution G A intron_variant SKCA-BR 5 16124585 16124585 single base substitution C T intron_variant SKCA-BR 5 16125281 16125281 single base substitution G A intron_variant SKCA-BR 5 16125526 16125526 single base substitution G A intron_variant SKCA-BR 5 16125742 16125742 single base substitution G C intron_variant SKCA-BR 5 16125930 16125930 single base substitution C T intron_variant SKCA-BR 5 16126160 16126160 single base substitution T G intron_variant SKCA-BR 5 16127523 16127523 single base substitution G A intron_variant SKCA-BR 5 16127899 16127899 single base substitution C T intron_variant SKCA-BR 5 16127942 16127942 single base substitution G A intron_variant SKCA-BR 5 16128123 16128123 single base substitution G A intron_variant SKCA-BR 5 16128802 16128802 single base substitution G A intron_variant SKCA-BR 5 16130342 16130342 single base substitution C T intron_variant SKCA-BR 5 16131157 16131157 single base substitution C T intron_variant SKCA-BR 5 16131594 16131594 single base substitution G A intron_variant SKCA-BR 5 16131959 16131959 single base substitution T G intron_variant SKCA-BR 5 16132370 16132370 single base substitution G A intron_variant SKCA-BR 5 16132592 16132592 single base substitution G A intron_variant SKCA-BR 5 16133297 16133297 single base substitution G A intron_variant SKCA-BR 5 16133314 16133314 single base substitution C T intron_variant SKCA-BR 5 16133550 16133550 single base substitution C T intron_variant SKCA-BR 5 16133790 16133790 single base substitution G A intron_variant SKCA-BR 5 16135100 16135100 single base substitution C T intron_variant SKCA-BR 5 16135107 16135107 insertion of <=200bp - TCTCACA intron_variant SKCA-BR 5 16135949 16135949 single base substitution G A intron_variant SKCA-BR 5 16136035 16136035 single base substitution T A intron_variant SKCA-BR 5 16136148 16136148 single base substitution C T intron_variant SKCA-BR 5 16136501 16136501 single base substitution G A intron_variant SKCA-BR 5 16136842 16136842 single base substitution G A intron_variant SKCA-BR 5 16136885 16136885 single base substitution G A intron_variant SKCA-BR 5 16137633 16137633 single base substitution T C intron_variant SKCA-BR 5 16137823 16137823 single base substitution C T intron_variant SKCA-BR 5 16137839 16137839 single base substitution C T intron_variant SKCA-BR 5 16137845 16137845 single base substitution G A intron_variant SKCA-BR 5 16137932 16137932 single base substitution G A intron_variant SKCA-BR 5 16137988 16137988 single base substitution A T intron_variant SKCA-BR 5 16139055 16139055 single base substitution G A intron_variant SKCA-BR 5 16139328 16139328 single base substitution G A intron_variant SKCA-BR 5 16139888 16139888 single base substitution C T intron_variant SKCA-BR 5 16139994 16139994 single base substitution C T intron_variant SKCA-BR 5 16140123 16140123 single base substitution A G intron_variant SKCA-BR 5 16140279 16140279 single base substitution G A intron_variant SKCA-BR 5 16140353 16140353 single base substitution C T intron_variant SKCA-BR 5 16140442 16140442 single base substitution C T intron_variant SKCA-BR 5 16140603 16140603 single base substitution G A intron_variant SKCA-BR 5 16141586 16141586 single base substitution C T intron_variant SKCA-BR 5 16142199 16142199 single base substitution C T intron_variant SKCA-BR 5 16142318 16142318 single base substitution C T intron_variant SKCA-BR 5 16142508 16142508 single base substitution G A intron_variant SKCA-BR 5 16144144 16144144 single base substitution C T intron_variant SKCA-BR 5 16145515 16145515 single base substitution G C intron_variant SKCA-BR 5 16146058 16146058 single base substitution G A intron_variant SKCA-BR 5 16146763 16146763 single base substitution G A intron_variant SKCA-BR 5 16146808 16146808 single base substitution C T intron_variant SKCA-BR 5 16147614 16147614 single base substitution G A intron_variant SKCA-BR 5 16147817 16147817 single base substitution C T intron_variant SKCA-BR 5 16148354 16148354 single base substitution G A intron_variant SKCA-BR 5 16148884 16148884 single base substitution T C intron_variant SKCA-BR 5 16149457 16149457 single base substitution C T intron_variant SKCA-BR 5 16149485 16149485 single base substitution C T intron_variant SKCA-BR 5 16149490 16149490 single base substitution G A intron_variant SKCA-BR 5 16149756 16149756 single base substitution G A intron_variant SKCA-BR 5 16150692 16150692 single base substitution G A intron_variant SKCA-BR 5 16150770 16150770 single base substitution C T intron_variant SKCA-BR 5 16151942 16151942 single base substitution G A intron_variant SKCA-BR 5 16152156 16152156 single base substitution C T intron_variant SKCA-BR 5 16152813 16152813 single base substitution C T intron_variant SKCA-BR 5 16153695 16153695 single base substitution C T intron_variant SKCA-BR 5 16154102 16154102 single base substitution G T intron_variant SKCA-BR 5 16154413 16154413 single base substitution A T intron_variant SKCA-BR 5 16155716 16155716 single base substitution G A intron_variant SKCA-BR 5 16155802 16155802 single base substitution C T intron_variant SKCA-BR 5 16157452 16157452 single base substitution C T intron_variant SKCA-BR 5 16157642 16157642 single base substitution A G intron_variant SKCA-BR 5 16157859 16157859 single base substitution G A intron_variant SKCA-BR 5 16158414 16158414 single base substitution C T intron_variant SKCA-BR 5 16159857 16159857 single base substitution C T intron_variant SKCA-BR 5 16162359 16162359 single base substitution C T intron_variant SKCA-BR 5 16162471 16162471 single base substitution C T intron_variant SKCA-BR 5 16164049 16164049 single base substitution C T intron_variant SKCA-BR 5 16164800 16164800 single base substitution G A intron_variant SKCA-BR 5 16164844 16164844 single base substitution G A intron_variant SKCA-BR 5 16164893 16164893 single base substitution C T intron_variant SKCA-BR 5 16164975 16164975 single base substitution C T intron_variant SKCA-BR 5 16164985 16164985 single base substitution A C intron_variant SKCA-BR 5 16165316 16165316 single base substitution C T intron_variant SKCA-BR 5 16165628 16165628 single base substitution G A intron_variant SKCA-BR 5 16165933 16165933 single base substitution C T intron_variant SKCA-BR 5 16166300 16166300 single base substitution G T intron_variant SKCA-BR 5 16166458 16166458 single base substitution G A intron_variant SKCA-BR 5 16166976 16166976 single base substitution C T intron_variant SKCA-BR 5 16167861 16167861 single base substitution C T intron_variant SKCA-BR 5 16167997 16167997 single base substitution G A intron_variant SKCA-BR 5 16168380 16168380 single base substitution C T intron_variant SKCA-BR 5 16169651 16169651 single base substitution C T intron_variant SKCA-BR 5 16170170 16170170 single base substitution C T intron_variant SKCA-BR 5 16170948 16170948 single base substitution G A intron_variant SKCA-BR 5 16170960 16170960 single base substitution G A intron_variant SKCA-BR 5 16171371 16171371 single base substitution A C intron_variant SKCA-BR 5 16171906 16171906 single base substitution C T intron_variant SKCA-BR 5 16172338 16172338 single base substitution C T intron_variant SKCA-BR 5 16173173 16173173 single base substitution G A intron_variant SKCA-BR 5 16173782 16173782 single base substitution G A intron_variant SKCA-BR 5 16174340 16174340 single base substitution A G intron_variant SKCA-BR 5 16174769 16174769 single base substitution C T intron_variant SKCA-BR 5 16175113 16175113 single base substitution G A intron_variant SKCA-BR 5 16176394 16176394 single base substitution C T intron_variant SKCA-BR 5 16179607 16179607 single base substitution A G intron_variant SKCA-BR 5 16179607 16179607 single base substitution A G synonymous_variant P26P 78T>C SKCA-BR 5 16179607 16179607 single base substitution A G upstream_gene_variant SKCA-BR 5 16179768 16179768 single base substitution A G 5_prime_UTR_variant SKCA-BR 5 16179768 16179768 single base substitution A G intron_variant SKCA-BR 5 16179768 16179768 single base substitution A G upstream_gene_variant SKCA-BR 5 16181492 16181492 single base substitution G A upstream_gene_variant SKCA-BR 5 16182519 16182519 single base substitution C T upstream_gene_variant SKCA-BR 5 16183200 16183200 single base substitution C T upstream_gene_variant SKCA-BR 5 16183493 16183493 single base substitution A C upstream_gene_variant SKCA-BR 5 16183877 16183877 single base substitution G A upstream_gene_variant SKCA-BR 5 16184358 16184358 single base substitution G A upstream_gene_variant SKCA-BR 5 16184371 16184371 single base substitution G T upstream_gene_variant SKCA-BR 5 16185679 16185679 insertion of <=200bp - GA upstream_gene_variant SKCM-US 5 16067614 16067614 single base substitution G A 3_prime_UTR_variant SKCM-US 5 16067614 16067614 single base substitution G A missense_variant S392L 1175C>T SKCM-US 5 16067654 16067654 single base substitution G A 3_prime_UTR_variant SKCM-US 5 16067654 16067654 single base substitution G A missense_variant R379W 1135C>T SKCM-US 5 16067685 16067685 single base substitution C T 3_prime_UTR_variant SKCM-US 5 16067685 16067685 single base substitution C T synonymous_variant Q368Q 1104G>A SKCM-US 5 16067687 16067687 single base substitution G A 3_prime_UTR_variant SKCM-US 5 16067687 16067687 single base substitution G A stop_gained Q368* 1102C>T SKCM-US 5 16067799 16067799 single base substitution G A 3_prime_UTR_variant SKCM-US 5 16067799 16067799 single base substitution G A synonymous_variant I330I 990C>T SKCM-US 5 16067851 16067851 single base substitution C T missense_variant E52K 154G>A SKCM-US 5 16067851 16067851 single base substitution C T missense_variant R313Q 938G>A SKCM-US 5 16067884 16067884 single base substitution C T missense_variant E41K 121G>A SKCM-US 5 16067884 16067884 single base substitution C T missense_variant G302E 905G>A SKCM-US 5 16091129 16091129 single base substitution G A exon_variant SKCM-US 5 16091129 16091129 single base substitution G A intron_variant SKCM-US 5 16091129 16091129 single base substitution G A missense_variant S252F 755C>T SKCM-US 5 16091132 16091132 single base substitution C T exon_variant SKCM-US 5 16091132 16091132 single base substitution C T intron_variant SKCM-US 5 16091132 16091132 single base substitution C T missense_variant G251E 752G>A SKCM-US 5 16091177 16091177 single base substitution G A exon_variant SKCM-US 5 16091177 16091177 single base substitution G A intron_variant SKCM-US 5 16091177 16091177 single base substitution G A missense_variant S236F 707C>T SKCM-US 5 16177850 16177850 single base substitution C T exon_variant SKCM-US 5 16177850 16177850 single base substitution C T missense_variant M226I 678G>A SKCM-US 5 16177850 16177850 single base substitution C T missense_variant M29I 87G>A SKCM-US 5 16177888 16177888 single base substitution G A exon_variant SKCM-US 5 16177888 16177888 single base substitution G A missense_variant L17F 49C>T SKCM-US 5 16177888 16177888 single base substitution G A missense_variant L214F 640C>T SKCM-US 5 16177951 16177951 single base substitution G A exon_variant SKCM-US 5 16177951 16177951 single base substitution G A missense_variant R193W 577C>T SKCM-US 5 16177951 16177951 single base substitution G A upstream_gene_variant STAD-US 5 16067654 16067654 single base substitution G A 3_prime_UTR_variant STAD-US 5 16067654 16067654 single base substitution G A missense_variant R379W 1135C>T STAD-US 5 16067798 16067798 single base substitution C T 3_prime_UTR_variant STAD-US 5 16067798 16067798 single base substitution C T missense_variant E331K 991G>A STAD-US 5 16091068 16091068 single base substitution C T exon_variant STAD-US 5 16091068 16091068 single base substitution C T intron_variant STAD-US 5 16091068 16091068 single base substitution C T synonymous_variant V272V 816G>A UCEC-US 5 16067733 16067733 single base substitution C T 3_prime_UTR_variant UCEC-US 5 16067733 16067733 single base substitution C T synonymous_variant R352R 1056G>A UCEC-US 5 16067799 16067799 single base substitution G A 3_prime_UTR_variant UCEC-US 5 16067799 16067799 single base substitution G A synonymous_variant I330I 990C>T UCEC-US 5 16067881 16067881 single base substitution G T missense_variant A303D 908C>A UCEC-US 5 16067881 16067881 single base substitution G T missense_variant L42M 124C>A UCEC-US 5 16067889 16067889 single base substitution A C missense_variant H300Q 900T>G UCEC-US 5 16067889 16067889 single base substitution A C missense_variant M39R 116T>G UCEC-US 5 16091049 16091049 single base substitution G T exon_variant UCEC-US 5 16091049 16091049 single base substitution G T intron_variant UCEC-US 5 16091049 16091049 single base substitution G T missense_variant L279I 835C>A UCEC-US 5 16091144 16091144 single base substitution G T exon_variant UCEC-US 5 16091144 16091144 single base substitution G T intron_variant UCEC-US 5 16091144 16091144 single base substitution G T missense_variant A247D 740C>A UCEC-US 5 16091163 16091163 single base substitution C G exon_variant UCEC-US 5 16091163 16091163 single base substitution C G intron_variant UCEC-US 5 16091163 16091163 single base substitution C G missense_variant E241Q 721G>C UCEC-US 5 16177854 16177854 single base substitution T G exon_variant UCEC-US 5 16177854 16177854 single base substitution T G missense_variant K225T 674A>C UCEC-US 5 16177854 16177854 single base substitution T G missense_variant K28T 83A>C UCEC-US 5 16177951 16177951 single base substitution G A exon_variant UCEC-US 5 16177951 16177951 single base substitution G A missense_variant R193W 577C>T UCEC-US 5 16177951 16177951 single base substitution G A upstream_gene_variant UCEC-US 5 16177968 16177968 single base substitution C T exon_variant UCEC-US 5 16177968 16177968 single base substitution C T missense_variant R187Q 560G>A UCEC-US 5 16177968 16177968 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PD13770a COSM5783686 c.161C>A p.A54E Substitution - Missense 5:16179415-16179415 - ESCC_31 COSM5627915 c.794C>T p.S265L Substitution - Missense 5:16090981-16090981 - TCGA-D3-A3MR-06 COSM3613500 c.938G>A p.R313Q Substitution - Missense 5:16067742-16067742 - TCGA-D3-A3ML-06 COSM3613500 c.938G>A p.R313Q Substitution - Missense 5:16067742-16067742 - S00022 COSM5656525 c.381C>T p.G127G Substitution - coding silent 5:16179195-16179195 - 23 COSM5748446 c.1145C>T p.P382L Substitution - Missense 5:16067535-16067535 - RK262_C01 COSM4778719 c.1035G>T p.W345C Substitution - Missense 5:16067645-16067645 - PD5155a COSM3719723 c.726A>T p.K242N Substitution - Missense 5:16091049-16091049 - TCGA-AX-A0J0-01 COSM1065353 c.674A>C p.K225T Substitution - Missense 5:16177745-16177745 - TCGA-CL-5917-01 COSM1567800 c.1175C>T p.S392L Substitution - Missense 5:16067505-16067505 - 2492701 COSM5599897 c.1136G>A p.R379Q Substitution - Missense 5:16067544-16067544 - TCGA-FR-A3R1-01 COSM3613545 c.755C>T p.S252F Substitution - Missense 5:16091020-16091020 - BD110T COSM1065354 c.577C>T p.R193W Substitution - Missense 5:16177842-16177842 - 3N05-VS-3T05 COSM4978799 c.1162G>A p.E388K Substitution - Missense 5:16067518-16067518 - MO_1074 COSM5561004 c.1169A>G p.N390S Substitution - Missense 5:16067511-16067511 - GB16 COSM1743754 c.534G>T p.E178D Substitution - Missense 5:16179042-16179042 - TCGA-24-1850-01 COSM1328944 c.1031T>C p.L344S Substitution - Missense 5:16067649-16067649 - MD-143 COSM302619 c.1055G>A p.R352Q Substitution - Missense 5:16067625-16067625 - HX12T COSM1619977 c.840delT p.Q281fs*12 Deletion - Frameshift 5:16090935-16090935 - PT42 COSM5925182 c.898C>T p.H300Y Substitution - Missense 5:16067782-16067782 - LUAD-CHTN-3090415 COSM357369 c.806C>A p.P269H Substitution - Missense 5:16090969-16090969 - Au2 COSM5599897 c.1136G>A p.R379Q Substitution - Missense 5:16067544-16067544 - PD4601a COSM158754 c.1180G>A p.E394K Substitution - Missense 5:16067500-16067500 - PDA_011 COSM1543008 c.932G>A p.R311H Substitution - Missense 5:16067748-16067748 - Pat_37_B COSM4554054 c.609G>A p.W203* Substitution - Nonsense 5:16177810-16177810 - PT45 COSM5927380 c.1094C>T p.P365L Substitution - Missense 5:16067586-16067586 - TCGA-33-4566-01 COSM736937 c.1025G>C p.R342T Substitution - Missense 5:16067655-16067655 - HCC142T COSM5817217 c.538-1G>T p.? Unknown 5:16177882-16177882 - NCI-H716 COSM3247790 c.805C>A p.P269T Substitution - Missense 5:16090970-16090970 - TCGA-ED-A4XI-01 COSM4913191 c.948T>G p.N316K Substitution - Missense 5:16067732-16067732 - TCGA-CJ-4869-01 COSM1496061 c.979G>A p.A327T Substitution - Missense 5:16067701-16067701 - TCGA-56-6546-01 COSM736926 c.886+1G>T p.? Unknown 5:16090888-16090888 - S02244 COSM5678268 c.129delC p.A44fs*26 Deletion - Frameshift 5:16179447-16179447 - T2932 COSM4700684 c.1041A>G p.P347P Substitution - coding silent 5:16067639-16067639 - TCGA-EB-A551-01 COSM1065354 c.577C>T p.R193W Substitution - Missense 5:16177842-16177842 - TCGA-B5-A11E-01 COSM1065354 c.577C>T p.R193W Substitution - Missense 5:16177842-16177842 - LUAD-NYU669 COSM375807 c.1024_1025AG>AT p.R342>? Complex 5:16067655-16067656 - TCGA-BF-A3DL-01 COSM1065258 c.990C>T p.I330I Substitution - coding silent 5:16067690-16067690 - COLO201 COSM3247680 c.982A>G p.T328A Substitution - Missense 5:16067698-16067698 - C0081T COSM4155588 c.888T>A p.G296G Substitution - coding silent 5:16067792-16067792 - 2492700 COSM5599897 c.1136G>A p.R379Q Substitution - Missense 5:16067544-16067544 - 31 COSM1543008 c.932G>A p.R311H Substitution - Missense 5:16067748-16067748 - pfg031T COSM4750380 c.706T>C p.S236P Substitution - Missense 5:16091069-16091069 - TCGA-B5-A11N-01 COSM1065258 c.990C>T p.I330I Substitution - coding silent 5:16067690-16067690 - TCGA-AP-A051-01 COSM1065259 c.908C>A p.A303D Substitution - Missense 5:16067772-16067772 - sysucc-810T COSM5453375 c.931C>T p.R311C Substitution - Missense 5:16067749-16067749 - TCGA-AP-A0LM-01 COSM1065258 c.990C>T p.I330I Substitution - coding silent 5:16067690-16067690 - TCGA-D1-A167-01 COSM1065291 c.740C>A p.A247D Substitution - Missense 5:16091035-16091035 - BCM711T COSM4836774 c.1009G>C p.E337Q Substitution - Missense 5:16067671-16067671 - TCGA-BG-A0M3-01 COSM1065260 c.900T>G p.H300Q Substitution - Missense 5:16067780-16067780 - 2492702 COSM5599897 c.1136G>A p.R379Q Substitution - Missense 5:16067544-16067544 - TCGA-H4-A2HQ-01 COSM1310912 c.589C>A p.Q197K Substitution - Missense 5:16177830-16177830 - 49M COSM5591798 c.1188G>A p.V396V Substitution - coding silent 5:16067492-16067492 - 2296_T COSM3947220 c.1082A>G p.Q361R Substitution - Missense 5:16067598-16067598 - COLO205 COSM3247680 c.982A>G p.T328A Substitution - Missense 5:16067698-16067698 - S02246 COSM5679129 c.526G>T p.G176C Substitution - Missense 5:16179050-16179050 - S01578 COSM5670576 c.531G>T p.A177A Substitution - coding silent 5:16179045-16179045 - LUAD-S01362 COSM346249 c.1104G>T p.Q368H Substitution - Missense 5:16067576-16067576 - TCGA-FS-A1ZT-06 COSM3919539 c.707C>T p.S236F Substitution - Missense 5:16091068-16091068 - TCGA-GV-A3QK-01 COSM3776482 c.1021A>G p.S341G Substitution - Missense 5:16067659-16067659 - TCGA-A5-A0GP-01 COSM1065355 c.560G>A p.R187Q Substitution - Missense 5:16177859-16177859 - LUAD-S01315 COSM345728 c.1081C>A p.Q361K Substitution - Missense 5:16067599-16067599 - S01453 COSM5668579 c.204G>C p.P68P Substitution - coding silent 5:16179372-16179372 - CSCC-18-T COSM4572496 c.764T>G p.L255* Substitution - Nonsense 5:16091011-16091011 - PT36 COSM5915416 c.1087A>G p.T363A Substitution - Missense 5:16067593-16067593 - CSCC-47-T COSM4558466 c.769G>A p.A257T Substitution - Missense 5:16091006-16091006 - 8069446 COSM3784755 c.883A>G p.I295V Substitution - Missense 5:16090892-16090892 - PT20_1 COSM5900498 c.1177G>A p.G393R Substitution - Missense 5:16067503-16067503 - 631076 COSM321588 c.695G>T p.W232L Substitution - Missense 5:16091080-16091080 - S00050 COSM5657200 c.567T>C p.D189D Substitution - coding silent 5:16177852-16177852 - LUAD-RT-S01721 COSM380601 c.578G>T p.R193L Substitution - Missense 5:16177841-16177841 - MO_1071 COSM5548764 c.475G>T p.A159S Substitution - Missense 5:16179101-16179101 - 2492703 COSM5599897 c.1136G>A p.R379Q Substitution - Missense 5:16067544-16067544 - LUAD-E01317 COSM403817 c.1004G>T p.R335L Substitution - Missense 5:16067676-16067676 - C086 COSM3919536 c.1102C>T p.Q368* Substitution - Nonsense 5:16067578-16067578 - CSB29 COSM5026272 c.1069G>A p.V357I Substitution - Missense 5:16067611-16067611 - TCGA-BR-6454-01 COSM3853366 c.991G>A p.E331K Substitution - Missense 5:16067689-16067689 - CHC2048T COSM4793149 c.435C>T p.C145C Substitution - coding silent 5:16179141-16179141 - TCGA-HU-A4G8-01 COSM3853370 c.816G>A p.V272V Substitution - coding silent 5:16090959-16090959 - HCC159T COSM3661674 c.836T>A p.L279H Substitution - Missense 5:16090939-16090939 - HCC159 COSM3661674 c.836T>A p.L279H Substitution - Missense 5:16090939-16090939 - TCGA-AX-A05Z-01 COSM1065290 c.835C>A p.L279I Substitution - Missense 5:16090940-16090940 - 49M COSM5591799 c.824G>A p.R275K Substitution - Missense 5:16090951-16090951 - TCGA-DU-6402-01 COSM3975378 c.1132A>G p.N378D Substitution - Missense 5:16067548-16067548 - sysucc-854T COSM321588 c.695G>T p.W232L Substitution - Missense 5:16091080-16091080 - TCGA-D3-A2J7-06 COSM3429215 c.905G>A p.G302E Substitution - Missense 5:16067775-16067775 - 229 COSM4426314 c.631A>G p.T211A Substitution - Missense 5:16177788-16177788 - DN12101 COSM5960974 c.647G>T p.C216F Substitution - Missense 5:16177772-16177772 - KM12 COSM4639174 c.697C>A p.Q233K Substitution - Missense 5:16091078-16091078 - TCGA-F5-6814-01 COSM3429215 c.905G>A p.G302E Substitution - Missense 5:16067775-16067775 - Pat_26_A COSM5868056 c.870G>A p.M290I Substitution - Missense 5:16090905-16090905 - TCGA-EE-A29D-06 COSM3613499 c.1104G>A p.Q368Q Substitution - coding silent 5:16067576-16067576 - BCM711T COSM4836774 c.1009G>C p.E337Q Substitution - Missense 5:16067671-16067671 - TCGA-18-3409-01 COSM736896 c.608G>A p.W203* Substitution - Nonsense 5:16177811-16177811 - S01864 COSM5671791 c.1026G>C p.R342S Substitution - Missense 5:16067654-16067654 - TCGA-BT-A0YX-01 COSM420798 c.653G>A p.R218K Substitution - Missense 5:16177766-16177766 - TCGA-AG-A002-01 COSM261918 c.1165G>T p.D389Y Substitution - Missense 5:16067515-16067515 - 1384-01-01TD COSM5416358 c.788T>C p.L263P Substitution - Missense 5:16090987-16090987 - TCGA-FS-A1ZK-06 COSM3613546 c.752G>A p.G251E Substitution - Missense 5:16091023-16091023 - 3101B7_032_T COSM5040784 c.740C>G p.A247G Substitution - Missense 5:16091035-16091035 - TCGA-EE-A2GM-06 COSM3613603 c.640C>T p.L214F Substitution - Missense 5:16177779-16177779 - TCGA-B5-A11R-01 COSM1065292 c.721G>C p.E241Q Substitution - Missense 5:16091054-16091054 - HCT8 COSM3613499 c.1104G>A p.Q368Q Substitution - coding silent 5:16067576-16067576 - ESO-1670 COSM1243793 c.1182G>C p.E394D Substitution - Missense 5:16067498-16067498 - LUAD-S01356 COSM398277 c.525G>A p.Q175Q Substitution - coding silent 5:16179051-16179051 - TCGA-AN-A046-01 COSM3827610 c.726A>C p.K242N Substitution - Missense 5:16091049-16091049 - 459 COSM4436438 c.693+1G>A p.? Unknown 5:16177725-16177725 - LUAD-RT-S01818 COSM384072 c.797C>T p.A266V Substitution - Missense 5:16090978-16090978 - BCM483T COSM4955873 c.499C>G p.Q167E Substitution - Missense 5:16179077-16179077 - TCGA-D1-A177-01 COSM1065257 c.1056G>A p.R352R Substitution - coding silent 5:16067624-16067624 - TCGA-FS-A1YW-06 COSM3613498 c.1135C>T p.R379W Substitution - Missense 5:16067545-16067545 - 8031121 COSM3393396 c.1199C>T p.T400I Substitution - Missense 5:16067481-16067481 - YUOTHO COSM5402958 c.648T>G p.C216W Substitution - Missense 5:16177771-16177771 - ESCC_158 COSM5646870 c.830A>G p.D277G Substitution - Missense 5:16090945-16090945 - TCGA-BR-8360-01 COSM3613498 c.1135C>T p.R379W Substitution - Missense 5:16067545-16067545 - CHC2048T COSM4793149 c.435C>T p.C145C Substitution - coding silent 5:16179141-16179141 - C086 COSM4436438 c.693+1G>A p.? Unknown 5:16177725-16177725 - TCGA-FW-A3R5-06 COSM3919536 c.1102C>T p.Q368* Substitution - Nonsense 5:16067578-16067578 - TCGA-EE-A2M6-06 COSM3613546 c.752G>A p.G251E Substitution - Missense 5:16091023-16091023 - TCGA-GN-A26C-01 COSM1567800 c.1175C>T p.S392L Substitution - Missense 5:16067505-16067505 - CSCC-42-T COSM4554054 c.609G>A p.W203* Substitution - Nonsense 5:16177810-16177810 - TCGA-DA-A1I5-06 COSM1567800 c.1175C>T p.S392L Substitution - Missense 5:16067505-16067505 - TCGA-C5-A1BF-01 COSM4836774 c.1009G>C p.E337Q Substitution - Missense 5:16067671-16067671 - PT35 COSM5912261 c.863G>A p.G288D Substitution - Missense 5:16090912-16090912 - CSCC-27-T COSM4507810 c.757C>T p.L253L Substitution - coding silent 5:16091018-16091018 - 3498_T COSM403817 c.1004G>T p.R335L Substitution - Missense 5:16067676-16067676 - TCGA-EE-A2MJ-06 COSM3613602 c.678G>A p.M226I Substitution - Missense 5:16177741-16177741 - BCM483T COSM4955873 c.499C>G p.Q167E Substitution - Missense 5:16179077-16179077 - TCGA-FD-A3B5-01 COSM1310908 c.1195G>A p.V399M Substitution - Missense 5:16067485-16067485 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.662213;Hs.662214;Hs.662215;Hs.662216 5p15.1 613338

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.H196Q c.588T>G 5 16177940 LUAD A C Missense p.H300Q c.900T>G 5 16067889 UCEC A G Missense p.I295T c.884T>C 5 16091000 LUAD A T Synonymous p.V305V c.915T>A 5 16067874 HNSC C A IntronicSNV . c.887-2366G>T 5 16070268 CLL C A Missense p.W232L c.695G>T 5 16091189 SCLC C A Missense p.W312L c.935G>T 5 16067854 HNSC C A SpliceDonorSNV . c.886+1G>T 5 16090997 LUSC C A Synonymous p.S392S c.1176G>T 5 16067613 LUAD C - Frameshift p.R313Qfs*3 c.938delG 5 16067851 LUAD C G Missense p.E241Q c.721G>C 5 16091163 UCEC C G Missense p.E394D c.1182G>C 5 16067607 ESCA C G Missense p.G393A c.1178G>C 5 16067611 HNSC C G Missense p.R366S c.1098G>C 5 16067691 LUAD C G Missense p.W345S c.1034G>C 5 16067755 LUAD C T Missense p.D320N c.958G>A 5 16067831 CM C T Missense p.E213K c.637G>A 5 16177891 CM C T Missense p.E331K c.991G>A 5 16067798 STAD C T Missense p.E394K c.1180G>A 5 16067609 BRCA C T Missense p.G251E c.752G>A 5 16091132 CM C T Missense p.G302E c.905G>A 5 16067884 CM C T Missense p.M226I c.678G>A 5 16177850 CM C T Missense p.R187Q c.560G>A 5 16177968 UCEC C T Missense p.R218K c.653G>A 5 16177875 BLCA C T Missense p.R313Q c.938G>A 5 16067851 CM C T Missense p.R366K c.1097G>A 5 16067692 CM C T Missense p.V357I c.1069G>A 5 16067720 BRCA C T Missense p.V399M c.1195G>A 5 16067594 BLCA C T SpliceAcceptorSNV . c.538-1G>A 5 16177991 LUAD C T Synonymous p.Q281Q c.843G>A 5 16091041 CM C T Synonymous p.R352R c.1056G>A 5 16067733 UCEC G A IntronicSNV . c.693+7554C>T 5 16170281 CLL G A Missense p.L214F c.640C>T 5 16177888 CM G A Missense p.R379W c.1135C>T 5 16067654 CM G A Missense p.S236F c.707C>T 5 16091177 CM G A Missense p.S392L c.1175C>T 5 16067614 CM G A Synonymous p.I330I c.990C>T 5 16067799 CM G T IntronicSNV . c.887-235C>A 5 16068137 CLL G T Missense p.Q197K c.589C>A 5 16177939 BLCA G T Synonymous p.A257A c.771C>A 5 16091113 BRCA G T Synonymous p.T211T c.633C>A 5 16177895 HNSC GTTTTT - IntronicDeletion . c.886+591_886+596delAAAAAC 5 16090402 CLL T A Missense p.H196L c.587A>T 5 16177941 LUAD T C IntronicSNV . c.694-21401A>G 5 16112591 CLL T C Missense p.N378D c.1132A>G 5 16067657 LGG T G 3-UTRSNV . c.1206+73A>C 5 16067510 ESCA T G Missense p.I295L c.883A>C 5 16091001 LUAD