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 2 169681198 169681198 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chr2:169681198G>A c.168G>A c.(166-168)ctG>ctA p.L56L BLCA 2 169699576 169699576 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr2:169699576G>A c.579G>A c.(577-579)gcG>gcA p.A193A BLCA 2 169707825 169707825 + Missense_Mutation SNP G G C TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 g.chr2:169707825G>C c.766G>C c.(766-768)Gac>Cac p.D256H BLCA 2 169717349 169717349 + Missense_Mutation SNP G G A TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 g.chr2:169717349G>A c.1224G>A c.(1222-1224)atG>atA p.M408I BRCA 2 169711935 169711936 + Frame_Shift_Del DEL AG AG - TCGA-BH-A0DD-01A-31D-A12Q-09 TCGA-BH-A0DD-11A-23D-A12Q-09 g.chr2:169711935_169711936delAG c.929_930delAG c.(928-930)cagfs p.Q310fs BRCA 2 169718518 169718518 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:169718518C>G c.1343C>G c.(1342-1344)tCt>tGt p.S448C CESC 2 169699594 169699594 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr2:169699594G>A c.597G>A c.(595-597)ctG>ctA p.L199L COAD 2 169699562 169699563 + Frame_Shift_Ins INS - - A TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr2:169699562_169699563insA c.565_566insA c.(565-567)caafs p.Q189fs COAD 2 169711899 169711899 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:169711899G>A c.893G>A c.(892-894)cGa>cAa p.R298Q COADREAD 2 169699562 169699563 + Frame_Shift_Ins INS - - A TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr2:169699562_169699563insA c.565_566insA c.(565-567)caafs p.Q189fs COADREAD 2 169711899 169711899 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:169711899G>A c.893G>A c.(892-894)cGa>cAa p.R298Q COADREAD 2 169721373 169721373 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:169721373G>T c.1414G>T c.(1414-1416)Gaa>Taa p.E472* ESCA 2 169707381 169707381 + Intron SNP C C G TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr2:169707381C>G ESCA 2 169716090 169716090 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr2:169716090G>T c.1122G>T c.(1120-1122)gaG>gaT p.E374D GBMLGG 2 169717336 169717336 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:169717336G>A c.1211G>A c.(1210-1212)cGg>cAg p.R404Q HNSC 2 169659175 169659175 + Missense_Mutation SNP G G C TCGA-CV-A6JM-01A-11D-A31L-08 TCGA-CV-A6JM-10A-01D-A31J-08 g.chr2:169659175G>C c.19G>C c.(19-21)Gat>Cat p.D7H HNSC 2 169684718 169684718 + Missense_Mutation SNP C C T TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr2:169684718C>T c.248C>T c.(247-249)gCg>gTg p.A83V HNSC 2 169690790 169690790 + Silent SNP T T C TCGA-CV-6941-01A-11D-1912-08 TCGA-CV-6941-10A-01D-1912-08 g.chr2:169690790T>C c.459T>C c.(457-459)ctT>ctC p.L153L HNSC 2 169699618 169699618 + Silent SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 g.chr2:169699618C>T c.621C>T c.(619-621)aaC>aaT p.N207N HNSC 2 169707858 169707858 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr2:169707858G>A c.799G>A c.(799-801)Gaa>Aaa p.E267K HNSC 2 169718498 169718498 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr2:169718498A>G c.1323A>G c.(1321-1323)agA>agG p.R441R KIPAN 2 169707624 169707624 + Missense_Mutation SNP C C A TCGA-CZ-5459-01A-01D-1501-10 TCGA-CZ-5459-11A-01D-1501-10 g.chr2:169707624C>A c.661C>A c.(661-663)Caa>Aaa p.Q221K KIRC 2 169707624 169707624 + Missense_Mutation SNP C C A TCGA-CZ-5459-01A-01D-1501-10 TCGA-CZ-5459-11A-01D-1501-10 g.chr2:169707624C>A c.661C>A c.(661-663)Caa>Aaa p.Q221K LGG 2 169717336 169717336 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:169717336G>A c.1211G>A c.(1210-1212)cGg>cAg p.R404Q LIHC 2 169681160 169681160 + Missense_Mutation SNP A A C TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr2:169681160A>C c.130A>C c.(130-132)Agc>Cgc p.S44R LIHC 2 169688005 169688005 + Silent SNP A A T TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr2:169688005A>T c.366A>T c.(364-366)acA>acT p.T122T LIHC 2 169721359 169721359 + Missense_Mutation SNP T T C TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chr2:169721359T>C c.1400T>C c.(1399-1401)aTa>aCa p.I467T LUAD 2 169699556 169699556 + Missense_Mutation SNP T T C TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr2:169699556T>C c.559T>C c.(559-561)Tac>Cac p.Y187H LUAD 2 169707821 169707821 + Silent SNP G G A TCGA-55-A493-01A-11D-A24D-08 TCGA-55-A493-10A-01D-A24F-08 g.chr2:169707821G>A c.762G>A c.(760-762)aaG>aaA p.K254K LUAD 2 169713286 169713286 + Missense_Mutation SNP G G A TCGA-97-A4M5-01A-11D-A24P-08 TCGA-97-A4M5-10A-01D-A24P-08 g.chr2:169713286G>A c.1051G>A c.(1051-1053)Gag>Aag p.E351K LUAD 2 169717326 169717326 + Missense_Mutation SNP A A G TCGA-75-5122-01A-01D-1753-08 TCGA-75-5122-10A-01D-1753-08 g.chr2:169717326A>G c.1201A>G c.(1201-1203)Aaa>Gaa p.K401E LUSC 2 169707637 169707637 + Missense_Mutation SNP A A G TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr2:169707637A>G c.674A>G c.(673-675)aAt>aGt p.N225S PAAD 2 169716142 169716142 + Missense_Mutation SNP G G C TCGA-OE-A75W-01A-12D-A32N-08 TCGA-OE-A75W-10A-01D-A32N-08 g.chr2:169716142G>C c.1174G>C c.(1174-1176)Gaa>Caa p.E392Q PRAD 2 169716116 169716116 + Missense_Mutation SNP G G T TCGA-KC-A7F3-01A-21D-A33T-08 TCGA-KC-A7F3-10A-01D-A33W-08 g.chr2:169716116G>T c.1148G>T c.(1147-1149)tGt>tTt p.C383F READ 2 169721373 169721373 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:169721373G>T c.1414G>T c.(1414-1416)Gaa>Taa p.E472* SKCM 2 169681154 169681154 + Missense_Mutation SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr2:169681154G>A c.124G>A c.(124-126)Gaa>Aaa p.E42K SKCM 2 169681219 169681219 + Silent SNP G G A TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chr2:169681219G>A c.189G>A c.(187-189)acG>acA p.T63T SKCM 2 169684707 169684707 + Missense_Mutation SNP G G A TCGA-FR-A69P-06A-21D-A30X-08 TCGA-FR-A69P-10A-01D-A30X-08 g.chr2:169684707G>A c.237G>A c.(235-237)atG>atA p.M79I SKCM 2 169684963 169684963 + Missense_Mutation SNP A A G TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr2:169684963A>G c.294A>G c.(292-294)atA>atG p.I98M SKCM 2 169690823 169690823 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:169690823G>A c.492G>A c.(490-492)aaG>aaA p.K164K SKCM 2 169690824 169690824 + Nonsense_Mutation SNP G G T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:169690824G>T c.493G>T c.(493-495)Gag>Tag p.E165* SKCM 2 169707602 169707602 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr2:169707602G>A c.639G>A c.(637-639)ctG>ctA p.L213L SKCM 2 169711862 169711862 + Splice_Site SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr2:169711862G>A c.856G>A c.(856-858)Gaa>Aaa p.E286K SKCM 2 169711892 169711892 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr2:169711892G>A c.886G>A c.(886-888)Gag>Aag p.E296K SKCM 2 169711903 169711903 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:169711903G>A c.897G>A c.(895-897)aaG>aaA p.K299K SKCM 2 169711967 169711967 + Missense_Mutation SNP G G A TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr2:169711967G>A c.961G>A c.(961-963)Gaa>Aaa p.E321K SKCM 2 169713205 169713205 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr2:169713205G>A c.970G>A c.(970-972)Gaa>Aaa p.E324K SKCM 2 169717389 169717389 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr2:169717389G>A c.1264G>A c.(1264-1266)Ggg>Agg p.G422R SKCM 2 169721405 169721406 + Frame_Shift_Ins INS - - A TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr2:169721405_169721406insA c.1446_1447insA c.(1447-1449)aaafs p.K483fs

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 2 169681198 169681198 single base substitution G A 5_prime_UTR_variant BLCA-US 2 169681198 169681198 single base substitution G A exon_variant BLCA-US 2 169681198 169681198 single base substitution G A intron_variant BLCA-US 2 169681198 169681198 single base substitution G A synonymous_variant L56L 168G>A BLCA-US 2 169717349 169717349 single base substitution G A downstream_gene_variant BLCA-US 2 169717349 169717349 single base substitution G A exon_variant BLCA-US 2 169717349 169717349 single base substitution G A missense_variant M330I 990G>A BLCA-US 2 169717349 169717349 single base substitution G A missense_variant M380I 1140G>A BLCA-US 2 169717349 169717349 single base substitution G A missense_variant M408I 1224G>A BLCA-US 2 169717349 169717349 single base substitution G A missense_variant M465I 1395G>A BRCA-EU 2 169638899 169638899 single base substitution T A upstream_gene_variant BRCA-EU 2 169644592 169644592 single base substitution G A intron_variant BRCA-EU 2 169646193 169646193 single base substitution G A intron_variant BRCA-EU 2 169646582 169646582 single base substitution T A intron_variant BRCA-EU 2 169646616 169646616 single base substitution G T intron_variant BRCA-EU 2 169646825 169646825 single base substitution G C intron_variant BRCA-EU 2 169648606 169648606 single base substitution C T intron_variant BRCA-EU 2 169648819 169648819 deletion of <=200bp T - intron_variant BRCA-EU 2 169648819 169648819 single base substitution T A intron_variant BRCA-EU 2 169650232 169650232 single base substitution T C intron_variant BRCA-EU 2 169650232 169650232 single base substitution T C upstream_gene_variant BRCA-EU 2 169652392 169652392 single base substitution A C intron_variant BRCA-EU 2 169652392 169652392 single base substitution A C upstream_gene_variant BRCA-EU 2 169652471 169652471 deletion of <=200bp T - intron_variant BRCA-EU 2 169652471 169652471 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 169655127 169655127 single base substitution G A intron_variant BRCA-EU 2 169655127 169655127 single base substitution G A upstream_gene_variant BRCA-EU 2 169655137 169655137 single base substitution G A intron_variant BRCA-EU 2 169655137 169655137 single base substitution G A upstream_gene_variant BRCA-EU 2 169656535 169656535 single base substitution A C intron_variant BRCA-EU 2 169656535 169656535 single base substitution A C upstream_gene_variant BRCA-EU 2 169657897 169657897 single base substitution A T intron_variant BRCA-EU 2 169657897 169657897 single base substitution A T upstream_gene_variant BRCA-EU 2 169660610 169660610 single base substitution G A intron_variant BRCA-EU 2 169661595 169661595 deletion of <=200bp A - intron_variant BRCA-EU 2 169662279 169662279 single base substitution C G intron_variant BRCA-EU 2 169662362 169662362 single base substitution C T intron_variant BRCA-EU 2 169663660 169663660 single base substitution C G intron_variant BRCA-EU 2 169663660 169663660 single base substitution C G upstream_gene_variant BRCA-EU 2 169664057 169664057 single base substitution C T intron_variant BRCA-EU 2 169664057 169664057 single base substitution C T upstream_gene_variant BRCA-EU 2 169664090 169664090 single base substitution T C intron_variant BRCA-EU 2 169664090 169664090 single base substitution T C upstream_gene_variant BRCA-EU 2 169664511 169664511 single base substitution G A intron_variant BRCA-EU 2 169664511 169664511 single base substitution G A upstream_gene_variant BRCA-EU 2 169665771 169665771 single base substitution A G intron_variant BRCA-EU 2 169665771 169665771 single base substitution A G upstream_gene_variant BRCA-EU 2 169666223 169666223 single base substitution A C intron_variant BRCA-EU 2 169666223 169666223 single base substitution A C upstream_gene_variant BRCA-EU 2 169666240 169666240 single base substitution A T intron_variant BRCA-EU 2 169666240 169666240 single base substitution A T upstream_gene_variant BRCA-EU 2 169667912 169667912 single base substitution T A 5_prime_UTR_variant BRCA-EU 2 169667912 169667912 single base substitution T A intron_variant BRCA-EU 2 169668122 169668122 single base substitution G C 5_prime_UTR_variant BRCA-EU 2 169668122 169668122 single base substitution G C exon_variant BRCA-EU 2 169668122 169668122 single base substitution G C intron_variant BRCA-EU 2 169668122 169668122 single base substitution G C missense_variant E25Q 73G>C BRCA-EU 2 169668500 169668500 deletion of <=200bp T - exon_variant BRCA-EU 2 169668500 169668500 deletion of <=200bp T - intron_variant BRCA-EU 2 169669672 169669672 single base substitution C A downstream_gene_variant BRCA-EU 2 169669672 169669672 single base substitution C A intron_variant BRCA-EU 2 169671156 169671156 single base substitution A G downstream_gene_variant BRCA-EU 2 169671156 169671156 single base substitution A G intron_variant BRCA-EU 2 169673148 169673148 single base substitution A G downstream_gene_variant BRCA-EU 2 169673148 169673148 single base substitution A G intron_variant BRCA-EU 2 169675195 169675195 single base substitution C G intron_variant BRCA-EU 2 169676109 169676109 single base substitution T C intron_variant BRCA-EU 2 169677500 169677500 single base substitution A G intron_variant BRCA-EU 2 169677532 169677532 single base substitution C A intron_variant BRCA-EU 2 169677982 169677982 single base substitution G T intron_variant BRCA-EU 2 169679600 169679600 single base substitution C G intron_variant BRCA-EU 2 169680001 169680001 single base substitution C G intron_variant BRCA-EU 2 169680110 169680110 single base substitution G A intron_variant BRCA-EU 2 169681408 169681408 deletion of <=200bp C - intron_variant BRCA-EU 2 169681448 169681448 single base substitution G A intron_variant BRCA-EU 2 169682713 169682713 single base substitution A G intron_variant BRCA-EU 2 169683546 169683546 single base substitution C G intron_variant BRCA-EU 2 169683780 169683780 single base substitution C G intron_variant BRCA-EU 2 169685495 169685495 single base substitution G A intron_variant BRCA-EU 2 169686064 169686064 single base substitution C T intron_variant BRCA-EU 2 169689299 169689299 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 169689299 169689299 deletion of <=200bp T - intron_variant BRCA-EU 2 169689505 169689505 single base substitution C G downstream_gene_variant BRCA-EU 2 169689505 169689505 single base substitution C G intron_variant BRCA-EU 2 169693968 169693968 single base substitution G A intron_variant BRCA-EU 2 169694810 169694810 single base substitution C T intron_variant BRCA-EU 2 169694810 169694810 single base substitution C T upstream_gene_variant BRCA-EU 2 169695269 169695269 single base substitution C T intron_variant BRCA-EU 2 169695269 169695269 single base substitution C T upstream_gene_variant BRCA-EU 2 169695929 169695929 single base substitution G A intron_variant BRCA-EU 2 169695929 169695929 single base substitution G A upstream_gene_variant BRCA-EU 2 169698259 169698259 single base substitution G A intron_variant BRCA-EU 2 169698259 169698259 single base substitution G A upstream_gene_variant BRCA-EU 2 169698273 169698273 single base substitution G A intron_variant BRCA-EU 2 169698273 169698273 single base substitution G A upstream_gene_variant BRCA-EU 2 169698576 169698576 single base substitution G A intron_variant BRCA-EU 2 169698576 169698576 single base substitution G A upstream_gene_variant BRCA-EU 2 169698957 169698957 single base substitution C G intron_variant BRCA-EU 2 169698957 169698957 single base substitution C G upstream_gene_variant BRCA-EU 2 169699435 169699435 single base substitution A G intron_variant BRCA-EU 2 169699435 169699435 single base substitution A G upstream_gene_variant BRCA-EU 2 169699750 169699750 single base substitution G T intron_variant BRCA-EU 2 169700214 169700214 single base substitution T A intron_variant BRCA-EU 2 169700894 169700894 single base substitution T A intron_variant BRCA-EU 2 169700904 169700904 single base substitution A T intron_variant BRCA-EU 2 169701563 169701563 single base substitution G C intron_variant BRCA-EU 2 169702267 169702267 single base substitution A T intron_variant BRCA-EU 2 169703442 169703442 single base substitution C A intron_variant BRCA-EU 2 169704850 169704850 single base substitution G A intron_variant BRCA-EU 2 169704996 169704996 single base substitution G A intron_variant BRCA-EU 2 169705982 169705982 single base substitution C T intron_variant BRCA-EU 2 169707091 169707091 single base substitution C G intron_variant BRCA-EU 2 169707091 169707091 single base substitution C G upstream_gene_variant BRCA-EU 2 169709165 169709165 single base substitution G A downstream_gene_variant BRCA-EU 2 169709165 169709165 single base substitution G A intron_variant BRCA-EU 2 169709165 169709165 single base substitution G A upstream_gene_variant BRCA-EU 2 169710318 169710318 single base substitution A C downstream_gene_variant BRCA-EU 2 169710318 169710318 single base substitution A C intron_variant BRCA-EU 2 169710318 169710318 single base substitution A C upstream_gene_variant BRCA-EU 2 169711818 169711818 single base substitution C G downstream_gene_variant BRCA-EU 2 169711818 169711818 single base substitution C G intron_variant BRCA-EU 2 169711818 169711818 single base substitution C G upstream_gene_variant BRCA-EU 2 169712541 169712541 single base substitution T C 3_prime_UTR_variant BRCA-EU 2 169712541 169712541 single base substitution T C downstream_gene_variant BRCA-EU 2 169712541 169712541 single base substitution T C exon_variant BRCA-EU 2 169712541 169712541 single base substitution T C intron_variant BRCA-EU 2 169712541 169712541 single base substitution T C upstream_gene_variant BRCA-EU 2 169714487 169714487 single base substitution G C downstream_gene_variant BRCA-EU 2 169714487 169714487 single base substitution G C intron_variant BRCA-EU 2 169714487 169714487 single base substitution G C upstream_gene_variant BRCA-EU 2 169714548 169714548 single base substitution A G downstream_gene_variant BRCA-EU 2 169714548 169714548 single base substitution A G intron_variant BRCA-EU 2 169714548 169714548 single base substitution A G upstream_gene_variant BRCA-EU 2 169714652 169714652 single base substitution G A downstream_gene_variant BRCA-EU 2 169714652 169714652 single base substitution G A intron_variant BRCA-EU 2 169714652 169714652 single base substitution G A upstream_gene_variant BRCA-EU 2 169714917 169714917 single base substitution G A downstream_gene_variant BRCA-EU 2 169714917 169714917 single base substitution G A intron_variant BRCA-EU 2 169714917 169714917 single base substitution G A upstream_gene_variant BRCA-EU 2 169716663 169716663 single base substitution C T downstream_gene_variant BRCA-EU 2 169716663 169716663 single base substitution C T intron_variant BRCA-EU 2 169719195 169719195 single base substitution G T downstream_gene_variant BRCA-EU 2 169719195 169719195 single base substitution G T intron_variant BRCA-EU 2 169720455 169720455 single base substitution C G downstream_gene_variant BRCA-EU 2 169720455 169720455 single base substitution C G intron_variant BRCA-EU 2 169722116 169722116 single base substitution G A downstream_gene_variant BRCA-EU 2 169725172 169725172 single base substitution G T downstream_gene_variant BRCA-FR 2 169656321 169656321 single base substitution G C intron_variant BRCA-FR 2 169656321 169656321 single base substitution G C upstream_gene_variant BRCA-FR 2 169673148 169673148 single base substitution A G downstream_gene_variant BRCA-FR 2 169673148 169673148 single base substitution A G intron_variant BRCA-FR 2 169679600 169679600 single base substitution C G intron_variant BRCA-FR 2 169698576 169698576 single base substitution G A intron_variant BRCA-FR 2 169698576 169698576 single base substitution G A upstream_gene_variant BRCA-FR 2 169699397 169699397 single base substitution G C intron_variant BRCA-FR 2 169699397 169699397 single base substitution G C upstream_gene_variant BRCA-FR 2 169701563 169701563 single base substitution G C intron_variant BRCA-FR 2 169714652 169714652 single base substitution G A downstream_gene_variant BRCA-FR 2 169714652 169714652 single base substitution G A intron_variant BRCA-FR 2 169714652 169714652 single base substitution G A upstream_gene_variant BRCA-FR 2 169722116 169722116 single base substitution G A downstream_gene_variant BRCA-FR 2 169722665 169722665 single base substitution A G downstream_gene_variant BRCA-KR 2 169684999 169684999 single base substitution G T 3_prime_UTR_variant BRCA-KR 2 169684999 169684999 single base substitution G T missense_variant K110N 330G>T BRCA-KR 2 169684999 169684999 single base substitution G T missense_variant K32N 96G>T BRCA-KR 2 169684999 169684999 single base substitution G T missense_variant K82N 246G>T BRCA-KR 2 169721436 169721436 single base substitution G C downstream_gene_variant BRCA-KR 2 169721436 169721436 single base substitution G C exon_variant BRCA-KR 2 169721436 169721436 single base substitution G C missense_variant E415Q 1243G>C BRCA-KR 2 169721436 169721436 single base substitution G C missense_variant E465Q 1393G>C BRCA-KR 2 169721436 169721436 single base substitution G C missense_variant E493Q 1477G>C BRCA-KR 2 169721436 169721436 single base substitution G C missense_variant E550Q 1648G>C BRCA-UK 2 169671156 169671156 single base substitution A G downstream_gene_variant BRCA-UK 2 169671156 169671156 single base substitution A G intron_variant BRCA-UK 2 169726250 169726250 single base substitution C A downstream_gene_variant BRCA-US 2 169711935 169711936 deletion of <=200bp AG - downstream_gene_variant BRCA-US 2 169711935 169711936 deletion of <=200bp AG - exon_variant BRCA-US 2 169711935 169711936 deletion of <=200bp AG - frameshift_variant Q232 BRCA-US 2 169711935 169711936 deletion of <=200bp AG - frameshift_variant Q282 BRCA-US 2 169711935 169711936 deletion of <=200bp AG - frameshift_variant Q310 BRCA-US 2 169711935 169711936 deletion of <=200bp AG - frameshift_variant Q367 BRCA-US 2 169711935 169711936 deletion of <=200bp AG - upstream_gene_variant BRCA-US 2 169711970 169711970 deletion of <=200bp G - downstream_gene_variant BRCA-US 2 169711970 169711970 deletion of <=200bp G - exon_variant BRCA-US 2 169711970 169711970 deletion of <=200bp G - frameshift_variant G244 BRCA-US 2 169711970 169711970 deletion of <=200bp G - frameshift_variant G294 BRCA-US 2 169711970 169711970 deletion of <=200bp G - frameshift_variant G322 BRCA-US 2 169711970 169711970 deletion of <=200bp G - frameshift_variant G379 BRCA-US 2 169711970 169711970 deletion of <=200bp G - splice_region_variant BRCA-US 2 169711970 169711970 deletion of <=200bp G - upstream_gene_variant BRCA-US 2 169718518 169718518 single base substitution C G downstream_gene_variant BRCA-US 2 169718518 169718518 single base substitution C G exon_variant BRCA-US 2 169718518 169718518 single base substitution C G missense_variant S370C 1109C>G BRCA-US 2 169718518 169718518 single base substitution C G missense_variant S420C 1259C>G BRCA-US 2 169718518 169718518 single base substitution C G missense_variant S448C 1343C>G BRCA-US 2 169718518 169718518 single base substitution C G missense_variant S505C 1514C>G BTCA-JP 2 169684652 169684652 deletion of <=200bp T - intron_variant BTCA-JP 2 169707669 169707669 single base substitution C G exon_variant BTCA-JP 2 169707669 169707669 single base substitution C G missense_variant L158V 472C>G BTCA-JP 2 169707669 169707669 single base substitution C G missense_variant L208V 622C>G BTCA-JP 2 169707669 169707669 single base substitution C G missense_variant L236V 706C>G BTCA-JP 2 169707669 169707669 single base substitution C G missense_variant L293V 877C>G BTCA-JP 2 169707669 169707669 single base substitution C G upstream_gene_variant BTCA-JP 2 169712547 169712547 single base substitution T C 3_prime_UTR_variant BTCA-JP 2 169712547 169712547 single base substitution T C downstream_gene_variant BTCA-JP 2 169712547 169712547 single base substitution T C exon_variant BTCA-JP 2 169712547 169712547 single base substitution T C intron_variant BTCA-JP 2 169712547 169712547 single base substitution T C upstream_gene_variant BTCA-JP 2 169717464 169717477 deletion of <=200bp GGGCACATTGCTAC - downstream_gene_variant BTCA-JP 2 169717464 169717477 deletion of <=200bp GGGCACATTGCTAC - intron_variant BTCA-JP 2 169718570 169718570 single base substitution T C downstream_gene_variant BTCA-JP 2 169718570 169718570 single base substitution T C intron_variant CESC-US 2 169699594 169699594 single base substitution G A exon_variant CESC-US 2 169699594 169699594 single base substitution G A synonymous_variant L121L 363G>A CESC-US 2 169699594 169699594 single base substitution G A synonymous_variant L171L 513G>A CESC-US 2 169699594 169699594 single base substitution G A synonymous_variant L199L 597G>A CLLE-ES 2 169650525 169650525 single base substitution T C intron_variant CLLE-ES 2 169650525 169650525 single base substitution T C upstream_gene_variant CLLE-ES 2 169675918 169675918 single base substitution T A intron_variant CLLE-ES 2 169695949 169695949 single base substitution G A intron_variant CLLE-ES 2 169695949 169695949 single base substitution G A upstream_gene_variant CLLE-ES 2 169707733 169707733 single base substitution A G downstream_gene_variant CLLE-ES 2 169707733 169707733 single base substitution A G intron_variant CLLE-ES 2 169707733 169707733 single base substitution A G upstream_gene_variant CLLE-ES 2 169711129 169711129 single base substitution C T downstream_gene_variant CLLE-ES 2 169711129 169711129 single base substitution C T intron_variant CLLE-ES 2 169711129 169711129 single base substitution C T upstream_gene_variant COAD-US 2 169699562 169699562 insertion of <=200bp - A exon_variant COAD-US 2 169699562 169699562 insertion of <=200bp - A frameshift_variant Q111T? COAD-US 2 169699562 169699562 insertion of <=200bp - A frameshift_variant Q161T? COAD-US 2 169699562 169699562 insertion of <=200bp - A frameshift_variant Q189T? COAD-US 2 169699563 169699563 deletion of <=200bp A - exon_variant COAD-US 2 169699563 169699563 deletion of <=200bp A - frameshift_variant Q111 COAD-US 2 169699563 169699563 deletion of <=200bp A - frameshift_variant Q161 COAD-US 2 169699563 169699563 deletion of <=200bp A - frameshift_variant Q189 COAD-US 2 169707596 169707596 single base substitution C A missense_variant S133R 399C>A COAD-US 2 169707596 169707596 single base substitution C A missense_variant S183R 549C>A COAD-US 2 169707596 169707596 single base substitution C A missense_variant S211R 633C>A COAD-US 2 169707596 169707596 single base substitution C A missense_variant S268R 804C>A COAD-US 2 169707596 169707596 single base substitution C A splice_region_variant COAD-US 2 169707596 169707596 single base substitution C A upstream_gene_variant COAD-US 2 169711899 169711899 single base substitution G A downstream_gene_variant COAD-US 2 169711899 169711899 single base substitution G A exon_variant COAD-US 2 169711899 169711899 single base substitution G A missense_variant R220Q 659G>A COAD-US 2 169711899 169711899 single base substitution G A missense_variant R270Q 809G>A COAD-US 2 169711899 169711899 single base substitution G A missense_variant R298Q 893G>A COAD-US 2 169711899 169711899 single base substitution G A missense_variant R355Q 1064G>A COAD-US 2 169711899 169711899 single base substitution G A upstream_gene_variant COAD-US 2 169716114 169716114 single base substitution T C downstream_gene_variant COAD-US 2 169716114 169716114 single base substitution T C exon_variant COAD-US 2 169716114 169716114 single base substitution T C synonymous_variant P304P 912T>C COAD-US 2 169716114 169716114 single base substitution T C synonymous_variant P354P 1062T>C COAD-US 2 169716114 169716114 single base substitution T C synonymous_variant P382P 1146T>C COAD-US 2 169716114 169716114 single base substitution T C synonymous_variant P439P 1317T>C COCA-CN 2 169659145 169659145 single base substitution A C 5_prime_UTR_variant COCA-CN 2 169659145 169659145 single base substitution A C upstream_gene_variant COCA-CN 2 169674764 169674764 single base substitution C G exon_variant COCA-CN 2 169674764 169674764 single base substitution C G intron_variant COCA-CN 2 169674806 169674806 single base substitution G C intron_variant COCA-CN 2 169674806 169674806 single base substitution G C splice_region_variant COCA-CN 2 169681132 169681132 single base substitution C A intron_variant COCA-CN 2 169681271 169681271 single base substitution A T intron_variant COCA-CN 2 169690860 169690860 single base substitution G A downstream_gene_variant COCA-CN 2 169690860 169690860 single base substitution G A intron_variant COCA-CN 2 169690902 169690902 single base substitution G A downstream_gene_variant COCA-CN 2 169690902 169690902 single base substitution G A intron_variant COCA-CN 2 169707630 169707630 single base substitution T G exon_variant COCA-CN 2 169707630 169707630 single base substitution T G missense_variant L145V 433T>G COCA-CN 2 169707630 169707630 single base substitution T G missense_variant L195V 583T>G COCA-CN 2 169707630 169707630 single base substitution T G missense_variant L223V 667T>G COCA-CN 2 169707630 169707630 single base substitution T G missense_variant L280V 838T>G COCA-CN 2 169707630 169707630 single base substitution T G upstream_gene_variant COCA-CN 2 169717624 169717624 single base substitution C T downstream_gene_variant COCA-CN 2 169717624 169717624 single base substitution C T intron_variant COCA-CN 2 169721404 169721404 single base substitution G T downstream_gene_variant COCA-CN 2 169721404 169721404 single base substitution G T exon_variant COCA-CN 2 169721404 169721404 single base substitution G T missense_variant G404V 1211G>T COCA-CN 2 169721404 169721404 single base substitution G T missense_variant G454V 1361G>T COCA-CN 2 169721404 169721404 single base substitution G T missense_variant G482V 1445G>T COCA-CN 2 169721404 169721404 single base substitution G T missense_variant G539V 1616G>T COCA-CN 2 169721408 169721408 single base substitution A C downstream_gene_variant COCA-CN 2 169721408 169721408 single base substitution A C exon_variant COCA-CN 2 169721408 169721408 single base substitution A C missense_variant K405N 1215A>C COCA-CN 2 169721408 169721408 single base substitution A C missense_variant K455N 1365A>C COCA-CN 2 169721408 169721408 single base substitution A C missense_variant K483N 1449A>C COCA-CN 2 169721408 169721408 single base substitution A C missense_variant K540N 1620A>C EOPC-DE 2 169642570 169642570 single base substitution G C upstream_gene_variant EOPC-DE 2 169682737 169682737 single base substitution G A intron_variant EOPC-DE 2 169719543 169719543 single base substitution G T downstream_gene_variant EOPC-DE 2 169719543 169719543 single base substitution G T intron_variant EOPC-DE 2 169725661 169725661 single base substitution C A downstream_gene_variant ESAD-UK 2 169638279 169638279 single base substitution A G upstream_gene_variant ESAD-UK 2 169644370 169644370 single base substitution G C splice_acceptor_variant ESAD-UK 2 169645699 169645699 single base substitution G C intron_variant ESAD-UK 2 169646413 169646413 single base substitution G C intron_variant ESAD-UK 2 169646422 169646422 single base substitution A C intron_variant ESAD-UK 2 169652479 169652479 single base substitution A T intron_variant ESAD-UK 2 169652479 169652479 single base substitution A T upstream_gene_variant ESAD-UK 2 169656877 169656877 single base substitution C T intron_variant ESAD-UK 2 169656877 169656877 single base substitution C T upstream_gene_variant ESAD-UK 2 169658769 169658769 insertion of <=200bp - A intron_variant ESAD-UK 2 169658769 169658769 insertion of <=200bp - A upstream_gene_variant ESAD-UK 2 169659972 169659972 single base substitution G A intron_variant ESAD-UK 2 169660089 169660089 single base substitution T A intron_variant ESAD-UK 2 169661628 169661628 single base substitution A G intron_variant ESAD-UK 2 169662315 169662315 single base substitution C G intron_variant ESAD-UK 2 169663108 169663108 single base substitution T G intron_variant ESAD-UK 2 169663108 169663108 single base substitution T G upstream_gene_variant ESAD-UK 2 169663760 169663760 insertion of <=200bp - AC intron_variant ESAD-UK 2 169663760 169663760 insertion of <=200bp - AC upstream_gene_variant ESAD-UK 2 169663760 169663761 deletion of <=200bp AC - intron_variant ESAD-UK 2 169663760 169663761 deletion of <=200bp AC - upstream_gene_variant ESAD-UK 2 169664475 169664475 single base substitution G A intron_variant ESAD-UK 2 169664475 169664475 single base substitution G A upstream_gene_variant ESAD-UK 2 169665021 169665021 single base substitution T A intron_variant ESAD-UK 2 169665021 169665021 single base substitution T A upstream_gene_variant ESAD-UK 2 169665988 169665988 single base substitution C T intron_variant ESAD-UK 2 169665988 169665988 single base substitution C T upstream_gene_variant ESAD-UK 2 169667191 169667191 single base substitution C G intron_variant ESAD-UK 2 169667191 169667191 single base substitution C G upstream_gene_variant ESAD-UK 2 169674857 169674857 single base substitution G A intron_variant ESAD-UK 2 169675351 169675351 single base substitution A T intron_variant ESAD-UK 2 169677181 169677181 single base substitution T C intron_variant ESAD-UK 2 169677381 169677381 single base substitution C T intron_variant ESAD-UK 2 169677437 169677437 single base substitution G T intron_variant ESAD-UK 2 169680598 169680598 deletion of <=200bp A - intron_variant ESAD-UK 2 169684652 169684652 deletion of <=200bp T - intron_variant ESAD-UK 2 169685384 169685384 insertion of <=200bp - T intron_variant ESAD-UK 2 169688161 169688161 single base substitution G T downstream_gene_variant ESAD-UK 2 169688161 169688161 single base substitution G T intron_variant ESAD-UK 2 169691266 169691266 single base substitution T G downstream_gene_variant ESAD-UK 2 169691266 169691266 single base substitution T G intron_variant ESAD-UK 2 169693905 169693905 single base substitution C T intron_variant ESAD-UK 2 169694673 169694673 single base substitution C A intron_variant ESAD-UK 2 169694673 169694673 single base substitution C A upstream_gene_variant ESAD-UK 2 169699568 169699568 single base substitution A T exon_variant ESAD-UK 2 169699568 169699568 single base substitution A T missense_variant N113Y 337A>T ESAD-UK 2 169699568 169699568 single base substitution A T missense_variant N163Y 487A>T ESAD-UK 2 169699568 169699568 single base substitution A T missense_variant N191Y 571A>T ESAD-UK 2 169700570 169700570 single base substitution G A intron_variant ESAD-UK 2 169700615 169700615 single base substitution T A intron_variant ESAD-UK 2 169701273 169701273 single base substitution G A intron_variant ESAD-UK 2 169702046 169702046 single base substitution A G intron_variant ESAD-UK 2 169702806 169702806 single base substitution G C intron_variant ESAD-UK 2 169704424 169704424 single base substitution T G intron_variant ESAD-UK 2 169707773 169707773 single base substitution C G downstream_gene_variant ESAD-UK 2 169707773 169707773 single base substitution C G intron_variant ESAD-UK 2 169707773 169707773 single base substitution C G upstream_gene_variant ESAD-UK 2 169708160 169708160 single base substitution C A downstream_gene_variant ESAD-UK 2 169708160 169708160 single base substitution C A intron_variant ESAD-UK 2 169708160 169708160 single base substitution C A upstream_gene_variant ESAD-UK 2 169710240 169710240 single base substitution C T downstream_gene_variant ESAD-UK 2 169710240 169710240 single base substitution C T intron_variant ESAD-UK 2 169710240 169710240 single base substitution C T upstream_gene_variant ESAD-UK 2 169710403 169710403 single base substitution A G downstream_gene_variant ESAD-UK 2 169710403 169710403 single base substitution A G intron_variant ESAD-UK 2 169710403 169710403 single base substitution A G upstream_gene_variant ESAD-UK 2 169710822 169710822 single base substitution C T downstream_gene_variant ESAD-UK 2 169710822 169710822 single base substitution C T intron_variant ESAD-UK 2 169710822 169710822 single base substitution C T upstream_gene_variant ESAD-UK 2 169711998 169711998 single base substitution G A downstream_gene_variant ESAD-UK 2 169711998 169711998 single base substitution G A exon_variant ESAD-UK 2 169711998 169711998 single base substitution G A intron_variant ESAD-UK 2 169711998 169711998 single base substitution G A upstream_gene_variant ESAD-UK 2 169713924 169713924 single base substitution C T downstream_gene_variant ESAD-UK 2 169713924 169713924 single base substitution C T intron_variant ESAD-UK 2 169713924 169713924 single base substitution C T upstream_gene_variant ESAD-UK 2 169715023 169715024 deletion of <=200bp GA - downstream_gene_variant ESAD-UK 2 169715023 169715024 deletion of <=200bp GA - intron_variant ESAD-UK 2 169715023 169715024 deletion of <=200bp GA - upstream_gene_variant ESAD-UK 2 169715204 169715204 single base substitution C T downstream_gene_variant ESAD-UK 2 169715204 169715204 single base substitution C T intron_variant ESAD-UK 2 169715204 169715204 single base substitution C T upstream_gene_variant ESAD-UK 2 169719498 169719498 single base substitution T C downstream_gene_variant ESAD-UK 2 169719498 169719498 single base substitution T C intron_variant ESAD-UK 2 169720564 169720564 single base substitution G A downstream_gene_variant ESAD-UK 2 169720564 169720564 single base substitution G A intron_variant KIRC-US 2 169707624 169707624 single base substitution C A exon_variant KIRC-US 2 169707624 169707624 single base substitution C A missense_variant Q143K 427C>A KIRC-US 2 169707624 169707624 single base substitution C A missense_variant Q193K 577C>A KIRC-US 2 169707624 169707624 single base substitution C A missense_variant Q221K 661C>A KIRC-US 2 169707624 169707624 single base substitution C A missense_variant Q278K 832C>A KIRC-US 2 169707624 169707624 single base substitution C A upstream_gene_variant LAML-KR 2 169653594 169653594 single base substitution T C intron_variant LAML-KR 2 169653594 169653594 single base substitution T C upstream_gene_variant LAML-KR 2 169684750 169684750 single base substitution C G intron_variant LAML-KR 2 169690729 169690729 single base substitution T C downstream_gene_variant LAML-KR 2 169690729 169690729 single base substitution T C splice_region_variant LAML-KR 2 169691035 169691035 single base substitution A G downstream_gene_variant LAML-KR 2 169691035 169691035 single base substitution A G intron_variant LAML-KR 2 169717192 169717192 single base substitution G A downstream_gene_variant LAML-KR 2 169717192 169717192 single base substitution G A intron_variant LAML-KR 2 169724842 169724842 single base substitution A G downstream_gene_variant LICA-FR 2 169638605 169638605 single base substitution T A upstream_gene_variant LICA-FR 2 169640307 169640307 single base substitution T C upstream_gene_variant LICA-FR 2 169648377 169648377 single base substitution T C intron_variant LICA-FR 2 169652137 169652137 single base substitution A G intron_variant LICA-FR 2 169652137 169652137 single base substitution A G upstream_gene_variant LICA-FR 2 169655324 169655324 insertion of <=200bp - GATAGATA intron_variant LICA-FR 2 169655324 169655324 insertion of <=200bp - GATAGATA upstream_gene_variant LICA-FR 2 169655398 169655398 single base substitution G A intron_variant LICA-FR 2 169655398 169655398 single base substitution G A upstream_gene_variant LICA-FR 2 169657767 169657767 deletion of <=200bp T - intron_variant LICA-FR 2 169657767 169657767 deletion of <=200bp T - upstream_gene_variant LICA-FR 2 169675914 169675914 single base substitution C A intron_variant LICA-FR 2 169687992 169687992 single base substitution A T 3_prime_UTR_variant LICA-FR 2 169687992 169687992 single base substitution A T missense_variant E118V 353A>T LICA-FR 2 169687992 169687992 single base substitution A T missense_variant E40V 119A>T LICA-FR 2 169687992 169687992 single base substitution A T missense_variant E90V 269A>T LICA-FR 2 169691035 169691035 single base substitution A G downstream_gene_variant LICA-FR 2 169691035 169691035 single base substitution A G intron_variant LICA-FR 2 169691087 169691087 single base substitution A G downstream_gene_variant LICA-FR 2 169691087 169691087 single base substitution A G intron_variant LICA-FR 2 169707451 169707451 single base substitution C T intron_variant LICA-FR 2 169707451 169707451 single base substitution C T missense_variant P246S 736C>T LICA-FR 2 169707451 169707451 single base substitution C T upstream_gene_variant LICA-FR 2 169710008 169710008 single base substitution A T downstream_gene_variant LICA-FR 2 169710008 169710008 single base substitution A T intron_variant LICA-FR 2 169710008 169710008 single base substitution A T upstream_gene_variant LICA-FR 2 169718487 169718487 single base substitution C A downstream_gene_variant LICA-FR 2 169718487 169718487 single base substitution C A exon_variant LICA-FR 2 169718487 169718487 single base substitution C A missense_variant L360I 1078C>A LICA-FR 2 169718487 169718487 single base substitution C A missense_variant L410I 1228C>A LICA-FR 2 169718487 169718487 single base substitution C A missense_variant L438I 1312C>A LICA-FR 2 169718487 169718487 single base substitution C A missense_variant L495I 1483C>A LICA-FR 2 169722534 169722534 single base substitution C T downstream_gene_variant LICA-FR 2 169722537 169722537 single base substitution T C downstream_gene_variant LICA-FR 2 169722878 169722878 single base substitution C A downstream_gene_variant LICA-FR 2 169722882 169722882 single base substitution G A downstream_gene_variant LICA-FR 2 169722951 169722951 single base substitution T C downstream_gene_variant LICA-FR 2 169722956 169722956 single base substitution C T downstream_gene_variant LICA-FR 2 169723963 169723963 single base substitution G A downstream_gene_variant LIHC-US 2 169681160 169681160 single base substitution A C 5_prime_UTR_variant LIHC-US 2 169681160 169681160 single base substitution A C exon_variant LIHC-US 2 169681160 169681160 single base substitution A C intron_variant LIHC-US 2 169681160 169681160 single base substitution A C missense_variant S44R 130A>C LINC-JP 2 169642642 169642642 single base substitution G C upstream_gene_variant LINC-JP 2 169674737 169674737 single base substitution T G exon_variant LINC-JP 2 169674737 169674737 single base substitution T G intron_variant LINC-JP 2 169684798 169684798 single base substitution C A intron_variant LINC-JP 2 169684888 169684888 single base substitution C T intron_variant LINC-JP 2 169690997 169691010 deletion of <=200bp GCGTGCGCGCGCGC - downstream_gene_variant LINC-JP 2 169690997 169691010 deletion of <=200bp GCGTGCGCGCGCGC - intron_variant LINC-JP 2 169698302 169698302 single base substitution T C intron_variant LINC-JP 2 169698302 169698302 single base substitution T C upstream_gene_variant LINC-JP 2 169699018 169699018 single base substitution A G intron_variant LINC-JP 2 169699018 169699018 single base substitution A G upstream_gene_variant LINC-JP 2 169700632 169700632 single base substitution T C intron_variant LINC-JP 2 169702318 169702318 single base substitution G T intron_variant LINC-JP 2 169705347 169705347 single base substitution T A intron_variant LINC-JP 2 169707574 169707574 single base substitution C A intron_variant LINC-JP 2 169707574 169707574 single base substitution C A upstream_gene_variant LINC-JP 2 169719228 169719228 single base substitution C T downstream_gene_variant LINC-JP 2 169719228 169719228 single base substitution C T intron_variant LIRI-JP 2 169639380 169639380 single base substitution T C upstream_gene_variant LIRI-JP 2 169640073 169640073 single base substitution T A upstream_gene_variant LIRI-JP 2 169643854 169643854 single base substitution A T intron_variant LIRI-JP 2 169644435 169644435 single base substitution A G 5_prime_UTR_variant LIRI-JP 2 169646503 169646503 single base substitution C A intron_variant LIRI-JP 2 169647039 169647039 single base substitution C T intron_variant LIRI-JP 2 169651273 169651273 single base substitution T C intron_variant LIRI-JP 2 169651273 169651273 single base substitution T C upstream_gene_variant LIRI-JP 2 169652029 169652029 single base substitution T C intron_variant LIRI-JP 2 169652029 169652029 single base substitution T C upstream_gene_variant LIRI-JP 2 169652502 169652502 single base substitution C T intron_variant LIRI-JP 2 169652502 169652502 single base substitution C T upstream_gene_variant LIRI-JP 2 169653459 169653459 single base substitution C T intron_variant LIRI-JP 2 169653459 169653459 single base substitution C T upstream_gene_variant LIRI-JP 2 169653504 169653504 single base substitution C T intron_variant LIRI-JP 2 169653504 169653504 single base substitution C T upstream_gene_variant LIRI-JP 2 169660334 169660335 deletion of <=200bp CA - intron_variant LIRI-JP 2 169660627 169660627 single base substitution A G intron_variant LIRI-JP 2 169660642 169660642 single base substitution G T intron_variant LIRI-JP 2 169662532 169662532 single base substitution A G intron_variant LIRI-JP 2 169663669 169663669 single base substitution G A intron_variant LIRI-JP 2 169663669 169663669 single base substitution G A upstream_gene_variant LIRI-JP 2 169665138 169665138 single base substitution G C intron_variant LIRI-JP 2 169665138 169665138 single base substitution G C upstream_gene_variant LIRI-JP 2 169665524 169665524 single base substitution T A intron_variant LIRI-JP 2 169665524 169665524 single base substitution T A upstream_gene_variant LIRI-JP 2 169665932 169665932 single base substitution G A intron_variant LIRI-JP 2 169665932 169665932 single base substitution G A upstream_gene_variant LIRI-JP 2 169667832 169667832 single base substitution G A intron_variant LIRI-JP 2 169667832 169667832 single base substitution G A upstream_gene_variant LIRI-JP 2 169669059 169669059 single base substitution G A downstream_gene_variant LIRI-JP 2 169669059 169669059 single base substitution G A intron_variant LIRI-JP 2 169669357 169669357 single base substitution G A downstream_gene_variant LIRI-JP 2 169669357 169669357 single base substitution G A intron_variant LIRI-JP 2 169669594 169669594 single base substitution A T downstream_gene_variant LIRI-JP 2 169669594 169669594 single base substitution A T intron_variant LIRI-JP 2 169670045 169670045 single base substitution C T downstream_gene_variant LIRI-JP 2 169670045 169670045 single base substitution C T intron_variant LIRI-JP 2 169672239 169672239 single base substitution T C downstream_gene_variant LIRI-JP 2 169672239 169672239 single base substitution T C intron_variant LIRI-JP 2 169673184 169673184 single base substitution T C downstream_gene_variant LIRI-JP 2 169673184 169673184 single base substitution T C intron_variant LIRI-JP 2 169673408 169673408 single base substitution C A downstream_gene_variant LIRI-JP 2 169673408 169673408 single base substitution C A intron_variant LIRI-JP 2 169673821 169673821 single base substitution G T intron_variant LIRI-JP 2 169675361 169675361 single base substitution T A intron_variant LIRI-JP 2 169675442 169675442 single base substitution G T intron_variant LIRI-JP 2 169675443 169675443 single base substitution A T intron_variant LIRI-JP 2 169675568 169675568 single base substitution A G intron_variant LIRI-JP 2 169677176 169677176 single base substitution C A intron_variant LIRI-JP 2 169678024 169678024 single base substitution G A intron_variant LIRI-JP 2 169678802 169678802 single base substitution A G intron_variant LIRI-JP 2 169680785 169680785 single base substitution T C intron_variant LIRI-JP 2 169682000 169682000 single base substitution G C intron_variant LIRI-JP 2 169682737 169682737 insertion of <=200bp - GTAGGGGG intron_variant LIRI-JP 2 169684515 169684515 single base substitution T A intron_variant LIRI-JP 2 169685499 169685499 single base substitution T C intron_variant LIRI-JP 2 169686490 169686490 single base substitution A T intron_variant LIRI-JP 2 169689634 169689634 single base substitution G T downstream_gene_variant LIRI-JP 2 169689634 169689634 single base substitution G T intron_variant LIRI-JP 2 169689943 169689943 single base substitution C A downstream_gene_variant LIRI-JP 2 169689943 169689943 single base substitution C A intron_variant LIRI-JP 2 169690295 169690295 single base substitution C A downstream_gene_variant LIRI-JP 2 169690295 169690295 single base substitution C A intron_variant LIRI-JP 2 169691470 169691470 single base substitution A G downstream_gene_variant LIRI-JP 2 169691470 169691470 single base substitution A G intron_variant LIRI-JP 2 169692627 169692627 single base substitution G A downstream_gene_variant LIRI-JP 2 169692627 169692627 single base substitution G A intron_variant LIRI-JP 2 169692786 169692786 single base substitution T C downstream_gene_variant LIRI-JP 2 169692786 169692786 single base substitution T C intron_variant LIRI-JP 2 169694899 169694899 single base substitution G A intron_variant LIRI-JP 2 169694899 169694899 single base substitution G A upstream_gene_variant LIRI-JP 2 169695649 169695649 single base substitution A G intron_variant LIRI-JP 2 169695649 169695649 single base substitution A G upstream_gene_variant LIRI-JP 2 169696493 169696493 single base substitution G A intron_variant LIRI-JP 2 169696493 169696493 single base substitution G A upstream_gene_variant LIRI-JP 2 169699095 169699095 single base substitution C T intron_variant LIRI-JP 2 169699095 169699095 single base substitution C T upstream_gene_variant LIRI-JP 2 169700324 169700324 single base substitution A G intron_variant LIRI-JP 2 169701684 169701685 deletion of <=200bp GA - intron_variant LIRI-JP 2 169703376 169703376 single base substitution A T intron_variant LIRI-JP 2 169705681 169705683 deletion of <=200bp TTC - intron_variant LIRI-JP 2 169705932 169705932 single base substitution C G intron_variant LIRI-JP 2 169706764 169706764 deletion of <=200bp C - intron_variant LIRI-JP 2 169707269 169707269 insertion of <=200bp - A intron_variant LIRI-JP 2 169707269 169707269 insertion of <=200bp - A upstream_gene_variant LIRI-JP 2 169707364 169707364 single base substitution C A intron_variant LIRI-JP 2 169707364 169707364 single base substitution C A missense_variant L217I 649C>A LIRI-JP 2 169707364 169707364 single base substitution C A upstream_gene_variant LIRI-JP 2 169708037 169708037 single base substitution A G downstream_gene_variant LIRI-JP 2 169708037 169708037 single base substitution A G intron_variant LIRI-JP 2 169708037 169708037 single base substitution A G upstream_gene_variant LIRI-JP 2 169709464 169709464 single base substitution G T downstream_gene_variant LIRI-JP 2 169709464 169709464 single base substitution G T intron_variant LIRI-JP 2 169709464 169709464 single base substitution G T upstream_gene_variant LIRI-JP 2 169712103 169712103 single base substitution C T downstream_gene_variant LIRI-JP 2 169712103 169712103 single base substitution C T exon_variant LIRI-JP 2 169712103 169712103 single base substitution C T intron_variant LIRI-JP 2 169712103 169712103 single base substitution C T upstream_gene_variant LIRI-JP 2 169714752 169714752 single base substitution C A downstream_gene_variant LIRI-JP 2 169714752 169714752 single base substitution C A intron_variant LIRI-JP 2 169714752 169714752 single base substitution C A upstream_gene_variant LIRI-JP 2 169716108 169716108 single base substitution C T downstream_gene_variant LIRI-JP 2 169716108 169716108 single base substitution C T exon_variant LIRI-JP 2 169716108 169716108 single base substitution C T synonymous_variant S302S 906C>T LIRI-JP 2 169716108 169716108 single base substitution C T synonymous_variant S352S 1056C>T LIRI-JP 2 169716108 169716108 single base substitution C T synonymous_variant S380S 1140C>T LIRI-JP 2 169716108 169716108 single base substitution C T synonymous_variant S437S 1311C>T LIRI-JP 2 169719789 169719789 single base substitution A G downstream_gene_variant LIRI-JP 2 169719789 169719789 single base substitution A G intron_variant LIRI-JP 2 169719885 169719885 single base substitution A C downstream_gene_variant LIRI-JP 2 169719885 169719885 single base substitution A C intron_variant LIRI-JP 2 169720422 169720422 single base substitution T C downstream_gene_variant LIRI-JP 2 169720422 169720422 single base substitution T C intron_variant LIRI-JP 2 169721721 169721721 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 169721721 169721721 single base substitution A G downstream_gene_variant LIRI-JP 2 169722121 169722121 single base substitution T A downstream_gene_variant LIRI-JP 2 169724561 169724561 single base substitution C A downstream_gene_variant LUSC-KR 2 169640061 169640061 single base substitution C A upstream_gene_variant LUSC-KR 2 169643015 169643015 single base substitution A T upstream_gene_variant LUSC-KR 2 169643377 169643377 single base substitution A G intron_variant LUSC-KR 2 169644539 169644539 single base substitution A G 5_prime_UTR_variant LUSC-KR 2 169645069 169645069 single base substitution G T intron_variant LUSC-KR 2 169647965 169647965 single base substitution G A intron_variant LUSC-KR 2 169649415 169649415 single base substitution T A intron_variant LUSC-KR 2 169654169 169654169 single base substitution A G intron_variant LUSC-KR 2 169654169 169654169 single base substitution A G upstream_gene_variant LUSC-KR 2 169655338 169655338 single base substitution C T intron_variant LUSC-KR 2 169655338 169655338 single base substitution C T upstream_gene_variant LUSC-KR 2 169655503 169655503 single base substitution G T intron_variant LUSC-KR 2 169655503 169655503 single base substitution G T upstream_gene_variant LUSC-KR 2 169664518 169664518 single base substitution A T intron_variant LUSC-KR 2 169664518 169664518 single base substitution A T upstream_gene_variant LUSC-KR 2 169669145 169669145 single base substitution A C downstream_gene_variant LUSC-KR 2 169669145 169669145 single base substitution A C intron_variant LUSC-KR 2 169670426 169670426 single base substitution T C downstream_gene_variant LUSC-KR 2 169670426 169670426 single base substitution T C intron_variant LUSC-KR 2 169681151 169681151 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 2 169681151 169681151 single base substitution C T exon_variant LUSC-KR 2 169681151 169681151 single base substitution C T intron_variant LUSC-KR 2 169681151 169681151 single base substitution C T synonymous_variant L41L 121C>T LUSC-KR 2 169685468 169685468 single base substitution A G intron_variant LUSC-KR 2 169689132 169689132 single base substitution G C downstream_gene_variant LUSC-KR 2 169689132 169689132 single base substitution G C intron_variant LUSC-KR 2 169691037 169691037 single base substitution A G downstream_gene_variant LUSC-KR 2 169691037 169691037 single base substitution A G intron_variant LUSC-KR 2 169694172 169694172 single base substitution C G intron_variant LUSC-KR 2 169697182 169697182 single base substitution T C intron_variant LUSC-KR 2 169697182 169697182 single base substitution T C upstream_gene_variant LUSC-KR 2 169702321 169702321 single base substitution A T intron_variant LUSC-KR 2 169704922 169704922 single base substitution A G intron_variant LUSC-KR 2 169705329 169705329 single base substitution C G intron_variant LUSC-KR 2 169712985 169712985 single base substitution T G downstream_gene_variant LUSC-KR 2 169712985 169712985 single base substitution T G exon_variant LUSC-KR 2 169712985 169712985 single base substitution T G intron_variant LUSC-KR 2 169712985 169712985 single base substitution T G upstream_gene_variant LUSC-KR 2 169714339 169714339 single base substitution C G downstream_gene_variant LUSC-KR 2 169714339 169714339 single base substitution C G intron_variant LUSC-KR 2 169714339 169714339 single base substitution C G upstream_gene_variant LUSC-KR 2 169722714 169722714 single base substitution G A downstream_gene_variant LUSC-KR 2 169722884 169722884 single base substitution G A downstream_gene_variant LUSC-KR 2 169722951 169722951 single base substitution T C downstream_gene_variant LUSC-KR 2 169722956 169722956 single base substitution C T downstream_gene_variant LUSC-KR 2 169724318 169724318 single base substitution T C downstream_gene_variant LUSC-KR 2 169724533 169724533 single base substitution C T downstream_gene_variant LUSC-KR 2 169724545 169724545 single base substitution G T downstream_gene_variant LUSC-KR 2 169724810 169724810 single base substitution A G downstream_gene_variant LUSC-KR 2 169724842 169724842 single base substitution A G downstream_gene_variant LUSC-US 2 169707637 169707637 single base substitution A G exon_variant LUSC-US 2 169707637 169707637 single base substitution A G missense_variant N147S 440A>G LUSC-US 2 169707637 169707637 single base substitution A G missense_variant N197S 590A>G LUSC-US 2 169707637 169707637 single base substitution A G missense_variant N225S 674A>G LUSC-US 2 169707637 169707637 single base substitution A G missense_variant N282S 845A>G LUSC-US 2 169707637 169707637 single base substitution A G upstream_gene_variant MALY-DE 2 169639550 169639550 single base substitution C T upstream_gene_variant MALY-DE 2 169642608 169642608 single base substitution C T upstream_gene_variant MALY-DE 2 169644281 169644281 single base substitution C A intron_variant MALY-DE 2 169644571 169644571 deletion of <=200bp A - intron_variant MALY-DE 2 169647502 169647502 single base substitution T A intron_variant MALY-DE 2 169650121 169650121 insertion of <=200bp - A intron_variant MALY-DE 2 169650121 169650121 insertion of <=200bp - A upstream_gene_variant MALY-DE 2 169654408 169654408 single base substitution A C intron_variant MALY-DE 2 169654408 169654408 single base substitution A C upstream_gene_variant MALY-DE 2 169655417 169655417 single base substitution A C intron_variant MALY-DE 2 169655417 169655417 single base substitution A C upstream_gene_variant MALY-DE 2 169657552 169657552 single base substitution A G intron_variant MALY-DE 2 169657552 169657552 single base substitution A G upstream_gene_variant MALY-DE 2 169657897 169657897 deletion of <=200bp A - intron_variant MALY-DE 2 169657897 169657897 deletion of <=200bp A - upstream_gene_variant MALY-DE 2 169660898 169660898 single base substitution G C intron_variant MALY-DE 2 169665314 169665314 single base substitution A T intron_variant MALY-DE 2 169665314 169665314 single base substitution A T upstream_gene_variant MALY-DE 2 169665602 169665602 single base substitution A G intron_variant MALY-DE 2 169665602 169665602 single base substitution A G upstream_gene_variant MALY-DE 2 169667274 169667274 single base substitution A C intron_variant MALY-DE 2 169667274 169667274 single base substitution A C upstream_gene_variant MALY-DE 2 169668415 169668415 single base substitution T G exon_variant MALY-DE 2 169668415 169668415 single base substitution T G intron_variant MALY-DE 2 169670897 169670897 single base substitution T G downstream_gene_variant MALY-DE 2 169670897 169670897 single base substitution T G intron_variant MALY-DE 2 169672849 169672849 single base substitution A G downstream_gene_variant MALY-DE 2 169672849 169672849 single base substitution A G intron_variant MALY-DE 2 169675528 169675528 single base substitution A C intron_variant MALY-DE 2 169675544 169675544 single base substitution G T intron_variant MALY-DE 2 169675613 169675613 single base substitution G A intron_variant MALY-DE 2 169676808 169676808 single base substitution G T intron_variant MALY-DE 2 169678147 169678147 single base substitution G C intron_variant MALY-DE 2 169680006 169680006 single base substitution G T intron_variant MALY-DE 2 169681264 169681264 insertion of <=200bp - T intron_variant MALY-DE 2 169682148 169682148 single base substitution C T intron_variant MALY-DE 2 169682467 169682467 single base substitution G T intron_variant MALY-DE 2 169683438 169683438 single base substitution G A intron_variant MALY-DE 2 169686966 169686966 single base substitution A T intron_variant MALY-DE 2 169688954 169688954 single base substitution G A downstream_gene_variant MALY-DE 2 169688954 169688954 single base substitution G A intron_variant MALY-DE 2 169691589 169691589 deletion of <=200bp T - downstream_gene_variant MALY-DE 2 169691589 169691589 deletion of <=200bp T - intron_variant MALY-DE 2 169691658 169691658 single base substitution C T downstream_gene_variant MALY-DE 2 169691658 169691658 single base substitution C T intron_variant MALY-DE 2 169697846 169697846 single base substitution T G intron_variant MALY-DE 2 169697846 169697846 single base substitution T G upstream_gene_variant MALY-DE 2 169707958 169707958 single base substitution T G downstream_gene_variant MALY-DE 2 169707958 169707958 single base substitution T G intron_variant MALY-DE 2 169707958 169707958 single base substitution T G upstream_gene_variant MALY-DE 2 169714533 169714533 single base substitution T C downstream_gene_variant MALY-DE 2 169714533 169714533 single base substitution T C intron_variant MALY-DE 2 169714533 169714533 single base substitution T C upstream_gene_variant MALY-DE 2 169714902 169714902 single base substitution G A downstream_gene_variant MALY-DE 2 169714902 169714902 single base substitution G A intron_variant MALY-DE 2 169714902 169714902 single base substitution G A upstream_gene_variant MALY-DE 2 169715083 169715085 deletion of <=200bp AGA - downstream_gene_variant MALY-DE 2 169715083 169715085 deletion of <=200bp AGA - intron_variant MALY-DE 2 169715083 169715085 deletion of <=200bp AGA - upstream_gene_variant MALY-DE 2 169721063 169721063 single base substitution G A downstream_gene_variant MALY-DE 2 169721063 169721063 single base substitution G A intron_variant MELA-AU 2 169638163 169638163 single base substitution C T upstream_gene_variant MELA-AU 2 169638213 169638213 single base substitution G A upstream_gene_variant MELA-AU 2 169638490 169638490 single base substitution C A upstream_gene_variant MELA-AU 2 169638515 169638515 single base substitution G T upstream_gene_variant MELA-AU 2 169638642 169638642 single base substitution C T upstream_gene_variant MELA-AU 2 169638752 169638762 deletion of <=200bp CACTAGACAGA - upstream_gene_variant MELA-AU 2 169639457 169639457 single base substitution C T upstream_gene_variant MELA-AU 2 169639511 169639511 single base substitution A G upstream_gene_variant MELA-AU 2 169639882 169639882 single base substitution G A upstream_gene_variant MELA-AU 2 169639933 169639933 single base substitution G A upstream_gene_variant MELA-AU 2 169640354 169640354 single base substitution G A upstream_gene_variant MELA-AU 2 169640397 169640397 single base substitution A G upstream_gene_variant MELA-AU 2 169640644 169640644 single base substitution G A upstream_gene_variant MELA-AU 2 169641355 169641355 single base substitution C T upstream_gene_variant MELA-AU 2 169641427 169641427 single base substitution G A upstream_gene_variant MELA-AU 2 169641514 169641514 single base substitution G A upstream_gene_variant MELA-AU 2 169641580 169641580 single base substitution G A upstream_gene_variant MELA-AU 2 169641796 169641796 single base substitution C T upstream_gene_variant MELA-AU 2 169641854 169641854 single base substitution C T upstream_gene_variant MELA-AU 2 169642327 169642327 single base substitution C T upstream_gene_variant MELA-AU 2 169642515 169642516 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 169642516 169642516 single base substitution G A upstream_gene_variant MELA-AU 2 169642572 169642572 single base substitution C T upstream_gene_variant MELA-AU 2 169642801 169642801 single base substitution C T upstream_gene_variant MELA-AU 2 169643166 169643166 single base substitution C T intron_variant MELA-AU 2 169643198 169643198 single base substitution C T intron_variant MELA-AU 2 169643458 169643458 single base substitution C T intron_variant MELA-AU 2 169643480 169643480 single base substitution C T intron_variant MELA-AU 2 169643744 169643744 single base substitution C T intron_variant MELA-AU 2 169644009 169644009 single base substitution C T intron_variant MELA-AU 2 169644082 169644082 single base substitution G A intron_variant MELA-AU 2 169644170 169644170 single base substitution C T intron_variant MELA-AU 2 169644230 169644230 single base substitution G A intron_variant MELA-AU 2 169644235 169644235 single base substitution G A intron_variant MELA-AU 2 169644488 169644488 single base substitution C T 5_prime_UTR_variant MELA-AU 2 169644499 169644499 single base substitution C T 5_prime_UTR_variant MELA-AU 2 169644981 169644981 single base substitution C T intron_variant MELA-AU 2 169645203 169645203 single base substitution G A intron_variant MELA-AU 2 169645325 169645325 single base substitution T G intron_variant MELA-AU 2 169645572 169645572 single base substitution A T intron_variant MELA-AU 2 169645573 169645573 single base substitution G A intron_variant MELA-AU 2 169645599 169645599 single base substitution C T intron_variant MELA-AU 2 169645702 169645702 single base substitution G A intron_variant MELA-AU 2 169645785 169645785 single base substitution G A intron_variant MELA-AU 2 169646006 169646006 single base substitution C T intron_variant MELA-AU 2 169646012 169646012 single base substitution C T intron_variant MELA-AU 2 169646049 169646049 single base substitution G A intron_variant MELA-AU 2 169646142 169646142 single base substitution G A intron_variant MELA-AU 2 169646393 169646393 single base substitution G A intron_variant MELA-AU 2 169646453 169646453 single base substitution G A intron_variant MELA-AU 2 169646670 169646670 single base substitution G A intron_variant MELA-AU 2 169646774 169646774 single base substitution A T intron_variant MELA-AU 2 169646850 169646850 single base substitution C T intron_variant MELA-AU 2 169647026 169647026 single base substitution C T intron_variant MELA-AU 2 169647040 169647040 single base substitution G A intron_variant MELA-AU 2 169647148 169647148 single base substitution G A intron_variant MELA-AU 2 169647357 169647357 single base substitution G A intron_variant MELA-AU 2 169647632 169647632 single base substitution C T intron_variant MELA-AU 2 169647690 169647690 single base substitution C T intron_variant MELA-AU 2 169647804 169647804 single base substitution C T intron_variant MELA-AU 2 169647837 169647837 single base substitution C T intron_variant MELA-AU 2 169647922 169647922 single base substitution T C intron_variant MELA-AU 2 169648030 169648030 single base substitution C T intron_variant MELA-AU 2 169648050 169648050 single base substitution A G intron_variant MELA-AU 2 169648086 169648086 single base substitution C T intron_variant MELA-AU 2 169648244 169648244 single base substitution G A intron_variant MELA-AU 2 169648266 169648266 single base substitution C T intron_variant MELA-AU 2 169648656 169648656 single base substitution G A intron_variant MELA-AU 2 169649023 169649023 single base substitution G A intron_variant MELA-AU 2 169649187 169649187 single base substitution C T intron_variant MELA-AU 2 169649454 169649454 single base substitution C T intron_variant MELA-AU 2 169649543 169649543 single base substitution C T intron_variant MELA-AU 2 169649667 169649667 single base substitution T C intron_variant MELA-AU 2 169649667 169649667 single base substitution T C upstream_gene_variant MELA-AU 2 169649669 169649669 single base substitution C T intron_variant MELA-AU 2 169649669 169649669 single base substitution C T upstream_gene_variant MELA-AU 2 169649670 169649670 single base substitution C T intron_variant MELA-AU 2 169649670 169649670 single base substitution C T upstream_gene_variant MELA-AU 2 169649864 169649864 single base substitution C T intron_variant MELA-AU 2 169649864 169649864 single base substitution C T upstream_gene_variant MELA-AU 2 169649906 169649906 single base substitution C T intron_variant MELA-AU 2 169649906 169649906 single base substitution C T upstream_gene_variant MELA-AU 2 169649928 169649928 single base substitution G A intron_variant MELA-AU 2 169649928 169649928 single base substitution G A upstream_gene_variant MELA-AU 2 169650169 169650169 single base substitution C T intron_variant MELA-AU 2 169650169 169650169 single base substitution C T upstream_gene_variant MELA-AU 2 169650210 169650210 single base substitution C T intron_variant MELA-AU 2 169650210 169650210 single base substitution C T upstream_gene_variant MELA-AU 2 169650218 169650218 single base substitution T C intron_variant MELA-AU 2 169650218 169650218 single base substitution T C upstream_gene_variant MELA-AU 2 169650468 169650468 single base substitution T C intron_variant MELA-AU 2 169650468 169650468 single base substitution T C upstream_gene_variant MELA-AU 2 169650561 169650561 single base substitution C T intron_variant MELA-AU 2 169650561 169650561 single base substitution C T upstream_gene_variant MELA-AU 2 169650590 169650590 single base substitution C A intron_variant MELA-AU 2 169650590 169650590 single base substitution C A upstream_gene_variant MELA-AU 2 169650650 169650650 single base substitution C T intron_variant MELA-AU 2 169650650 169650650 single base substitution C T upstream_gene_variant MELA-AU 2 169650766 169650766 single base substitution G A intron_variant MELA-AU 2 169650766 169650766 single base substitution G A upstream_gene_variant MELA-AU 2 169650858 169650858 single base substitution G A intron_variant MELA-AU 2 169650858 169650858 single base substitution G A upstream_gene_variant MELA-AU 2 169650925 169650925 single base substitution G A intron_variant MELA-AU 2 169650925 169650925 single base substitution G A upstream_gene_variant MELA-AU 2 169650974 169650974 single base substitution G A intron_variant MELA-AU 2 169650974 169650974 single base substitution G A upstream_gene_variant MELA-AU 2 169651122 169651122 single base substitution A G intron_variant MELA-AU 2 169651122 169651122 single base substitution A G upstream_gene_variant MELA-AU 2 169651139 169651139 single base substitution G A intron_variant MELA-AU 2 169651139 169651139 single base substitution G A upstream_gene_variant MELA-AU 2 169651186 169651186 single base substitution C T intron_variant MELA-AU 2 169651186 169651186 single base substitution C T upstream_gene_variant MELA-AU 2 169651289 169651289 single base substitution C T intron_variant MELA-AU 2 169651289 169651289 single base substitution C T upstream_gene_variant MELA-AU 2 169651346 169651346 single base substitution C T intron_variant MELA-AU 2 169651346 169651346 single base substitution C T upstream_gene_variant MELA-AU 2 169651374 169651374 single base substitution G A intron_variant MELA-AU 2 169651374 169651374 single base substitution G A upstream_gene_variant MELA-AU 2 169651586 169651586 single base substitution G A intron_variant MELA-AU 2 169651586 169651586 single base substitution G A upstream_gene_variant MELA-AU 2 169651685 169651685 single base substitution C T intron_variant MELA-AU 2 169651685 169651685 single base substitution C T upstream_gene_variant MELA-AU 2 169651923 169651923 single base substitution C T intron_variant MELA-AU 2 169651923 169651923 single base substitution C T upstream_gene_variant MELA-AU 2 169651948 169651948 single base substitution A C intron_variant MELA-AU 2 169651948 169651948 single base substitution A C upstream_gene_variant MELA-AU 2 169651984 169651984 single base substitution C T intron_variant MELA-AU 2 169651984 169651984 single base substitution C T upstream_gene_variant MELA-AU 2 169651998 169651998 single base substitution T A intron_variant MELA-AU 2 169651998 169651998 single base substitution T A upstream_gene_variant MELA-AU 2 169652108 169652108 single base substitution G A intron_variant MELA-AU 2 169652108 169652108 single base substitution G A upstream_gene_variant MELA-AU 2 169652193 169652193 single base substitution C T intron_variant MELA-AU 2 169652193 169652193 single base substitution C T upstream_gene_variant MELA-AU 2 169652339 169652339 single base substitution T C intron_variant MELA-AU 2 169652339 169652339 single base substitution T C upstream_gene_variant MELA-AU 2 169652747 169652747 single base substitution C T intron_variant MELA-AU 2 169652747 169652747 single base substitution C T upstream_gene_variant MELA-AU 2 169652774 169652774 single base substitution C T intron_variant MELA-AU 2 169652774 169652774 single base substitution C T upstream_gene_variant MELA-AU 2 169653111 169653111 single base substitution G A intron_variant MELA-AU 2 169653111 169653111 single base substitution G A upstream_gene_variant MELA-AU 2 169653226 169653226 single base substitution C T intron_variant MELA-AU 2 169653226 169653226 single base substitution C T upstream_gene_variant MELA-AU 2 169653417 169653417 single base substitution G A intron_variant MELA-AU 2 169653417 169653417 single base substitution G A upstream_gene_variant MELA-AU 2 169653441 169653441 single base substitution C T intron_variant MELA-AU 2 169653441 169653441 single base substitution C T upstream_gene_variant MELA-AU 2 169653703 169653703 single base substitution G A intron_variant MELA-AU 2 169653703 169653703 single base substitution G A upstream_gene_variant MELA-AU 2 169653716 169653716 single base substitution C T intron_variant MELA-AU 2 169653716 169653716 single base substitution C T upstream_gene_variant MELA-AU 2 169654003 169654003 single base substitution G A intron_variant MELA-AU 2 169654003 169654003 single base substitution G A upstream_gene_variant MELA-AU 2 169654129 169654129 single base substitution C T intron_variant MELA-AU 2 169654129 169654129 single base substitution C T upstream_gene_variant MELA-AU 2 169654280 169654280 single base substitution G A intron_variant MELA-AU 2 169654280 169654280 single base substitution G A upstream_gene_variant MELA-AU 2 169654432 169654432 single base substitution C T intron_variant MELA-AU 2 169654432 169654432 single base substitution C T upstream_gene_variant MELA-AU 2 169654484 169654484 single base substitution C T intron_variant MELA-AU 2 169654484 169654484 single base substitution C T upstream_gene_variant MELA-AU 2 169655083 169655084 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 169655083 169655084 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 169655127 169655127 single base substitution G A intron_variant MELA-AU 2 169655127 169655127 single base substitution G A upstream_gene_variant MELA-AU 2 169655282 169655282 single base substitution G A intron_variant MELA-AU 2 169655282 169655282 single base substitution G A upstream_gene_variant MELA-AU 2 169655307 169655307 single base substitution C T intron_variant MELA-AU 2 169655307 169655307 single base substitution C T upstream_gene_variant MELA-AU 2 169655430 169655431 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 169655430 169655431 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 169655585 169655585 single base substitution C T intron_variant MELA-AU 2 169655585 169655585 single base substitution C T upstream_gene_variant MELA-AU 2 169655638 169655638 single base substitution C T intron_variant MELA-AU 2 169655638 169655638 single base substitution C T upstream_gene_variant MELA-AU 2 169655654 169655654 single base substitution C T intron_variant MELA-AU 2 169655654 169655654 single base substitution C T upstream_gene_variant MELA-AU 2 169655655 169655655 single base substitution C T intron_variant MELA-AU 2 169655655 169655655 single base substitution C T upstream_gene_variant MELA-AU 2 169655793 169655794 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 169655793 169655794 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 169655911 169655911 single base substitution A C intron_variant MELA-AU 2 169655911 169655911 single base substitution A C upstream_gene_variant MELA-AU 2 169656131 169656131 single base substitution G A intron_variant MELA-AU 2 169656131 169656131 single base substitution G A upstream_gene_variant MELA-AU 2 169656145 169656145 single base substitution C T intron_variant MELA-AU 2 169656145 169656145 single base substitution C T upstream_gene_variant MELA-AU 2 169656362 169656362 single base substitution G A intron_variant MELA-AU 2 169656362 169656362 single base substitution G A upstream_gene_variant MELA-AU 2 169656434 169656434 single base substitution C T intron_variant MELA-AU 2 169656434 169656434 single base substitution C T upstream_gene_variant MELA-AU 2 169656457 169656457 single base substitution C T intron_variant MELA-AU 2 169656457 169656457 single base substitution C T upstream_gene_variant MELA-AU 2 169656473 169656473 single base substitution G A intron_variant MELA-AU 2 169656473 169656473 single base substitution G A upstream_gene_variant MELA-AU 2 169656574 169656574 single base substitution C T intron_variant MELA-AU 2 169656574 169656574 single base substitution C T upstream_gene_variant MELA-AU 2 169656656 169656656 single base substitution C T intron_variant MELA-AU 2 169656656 169656656 single base substitution C T upstream_gene_variant MELA-AU 2 169656760 169656760 single base substitution C T intron_variant MELA-AU 2 169656760 169656760 single base substitution C T upstream_gene_variant MELA-AU 2 169656774 169656774 single base substitution A G intron_variant MELA-AU 2 169656774 169656774 single base substitution A G upstream_gene_variant MELA-AU 2 169657354 169657354 single base substitution C T intron_variant MELA-AU 2 169657354 169657354 single base substitution C T upstream_gene_variant MELA-AU 2 169657666 169657666 single base substitution G A 5_prime_UTR_variant MELA-AU 2 169657666 169657666 single base substitution G A upstream_gene_variant MELA-AU 2 169657681 169657681 single base substitution G A 5_prime_UTR_variant MELA-AU 2 169657681 169657681 single base substitution G A upstream_gene_variant MELA-AU 2 169657694 169657694 single base substitution C T 5_prime_UTR_variant MELA-AU 2 169657694 169657694 single base substitution C T upstream_gene_variant MELA-AU 2 169657726 169657726 single base substitution C T intron_variant MELA-AU 2 169657726 169657726 single base substitution C T upstream_gene_variant MELA-AU 2 169657811 169657811 single base substitution G A intron_variant MELA-AU 2 169657811 169657811 single base substitution G A upstream_gene_variant MELA-AU 2 169658038 169658038 single base substitution C T intron_variant MELA-AU 2 169658038 169658038 single base substitution C T upstream_gene_variant MELA-AU 2 169658201 169658201 single base substitution G A intron_variant MELA-AU 2 169658201 169658201 single base substitution G A upstream_gene_variant MELA-AU 2 169658254 169658254 single base substitution G A intron_variant MELA-AU 2 169658254 169658254 single base substitution G A upstream_gene_variant MELA-AU 2 169658341 169658341 single base substitution T G intron_variant MELA-AU 2 169658341 169658341 single base substitution T G upstream_gene_variant MELA-AU 2 169658625 169658625 single base substitution C T intron_variant MELA-AU 2 169658625 169658625 single base substitution C T upstream_gene_variant MELA-AU 2 169658652 169658652 single base substitution G A intron_variant MELA-AU 2 169658652 169658652 single base substitution G A upstream_gene_variant MELA-AU 2 169658685 169658685 single base substitution G A intron_variant MELA-AU 2 169658685 169658685 single base substitution G A upstream_gene_variant MELA-AU 2 169658916 169658916 single base substitution T C 5_prime_UTR_variant MELA-AU 2 169658916 169658916 single base substitution T C upstream_gene_variant MELA-AU 2 169659012 169659012 single base substitution G A 5_prime_UTR_variant MELA-AU 2 169659012 169659012 single base substitution G A upstream_gene_variant MELA-AU 2 169659068 169659069 multiple base substitution (>=2bp and <=200bp) CC AT 5_prime_UTR_variant MELA-AU 2 169659068 169659069 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 2 169659401 169659401 single base substitution C A intron_variant MELA-AU 2 169659576 169659576 single base substitution G A intron_variant MELA-AU 2 169659845 169659845 single base substitution G A intron_variant MELA-AU 2 169659850 169659850 single base substitution G A intron_variant MELA-AU 2 169659961 169659961 single base substitution C A intron_variant MELA-AU 2 169660084 169660084 single base substitution G A intron_variant MELA-AU 2 169660124 169660124 single base substitution G A intron_variant MELA-AU 2 169660334 169660334 single base substitution C T intron_variant MELA-AU 2 169660652 169660652 single base substitution C T intron_variant MELA-AU 2 169661573 169661573 single base substitution C T intron_variant MELA-AU 2 169661653 169661653 single base substitution G A intron_variant MELA-AU 2 169661677 169661677 single base substitution G A intron_variant MELA-AU 2 169661752 169661752 single base substitution C T intron_variant MELA-AU 2 169661766 169661766 single base substitution G A intron_variant MELA-AU 2 169661873 169661873 single base substitution G A intron_variant MELA-AU 2 169661988 169661988 single base substitution G A intron_variant MELA-AU 2 169662014 169662014 single base substitution G A intron_variant MELA-AU 2 169662266 169662266 single base substitution C A intron_variant MELA-AU 2 169662537 169662537 single base substitution C T intron_variant MELA-AU 2 169662707 169662707 single base substitution C T intron_variant MELA-AU 2 169662743 169662743 single base substitution C T intron_variant MELA-AU 2 169662790 169662790 single base substitution C T intron_variant MELA-AU 2 169663017 169663017 single base substitution G A intron_variant MELA-AU 2 169663017 169663017 single base substitution G A upstream_gene_variant MELA-AU 2 169663046 169663046 single base substitution G A intron_variant MELA-AU 2 169663046 169663046 single base substitution G A upstream_gene_variant MELA-AU 2 169663118 169663118 single base substitution C T intron_variant MELA-AU 2 169663118 169663118 single base substitution C T upstream_gene_variant MELA-AU 2 169663185 169663185 single base substitution C T intron_variant MELA-AU 2 169663185 169663185 single base substitution C T upstream_gene_variant MELA-AU 2 169663206 169663206 single base substitution G A intron_variant MELA-AU 2 169663206 169663206 single base substitution G A upstream_gene_variant MELA-AU 2 169663269 169663269 single base substitution G A intron_variant MELA-AU 2 169663269 169663269 single base substitution G A upstream_gene_variant MELA-AU 2 169663295 169663295 single base substitution G A intron_variant MELA-AU 2 169663295 169663295 single base substitution G A upstream_gene_variant MELA-AU 2 169663433 169663433 single base substitution G A intron_variant MELA-AU 2 169663433 169663433 single base substitution G A upstream_gene_variant MELA-AU 2 169663584 169663584 single base substitution G A intron_variant MELA-AU 2 169663584 169663584 single base substitution G A upstream_gene_variant MELA-AU 2 169663605 169663605 single base substitution G A intron_variant MELA-AU 2 169663605 169663605 single base substitution G A upstream_gene_variant MELA-AU 2 169663723 169663723 single base substitution C T intron_variant MELA-AU 2 169663723 169663723 single base substitution C T upstream_gene_variant MELA-AU 2 169663760 169663760 single base substitution A G intron_variant MELA-AU 2 169663760 169663760 single base substitution A G upstream_gene_variant MELA-AU 2 169663974 169663974 single base substitution T C intron_variant MELA-AU 2 169663974 169663974 single base substitution T C upstream_gene_variant MELA-AU 2 169664061 169664061 single base substitution C T intron_variant MELA-AU 2 169664061 169664061 single base substitution C T upstream_gene_variant MELA-AU 2 169664266 169664266 single base substitution C T intron_variant MELA-AU 2 169664266 169664266 single base substitution C T upstream_gene_variant MELA-AU 2 169664762 169664763 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 169664762 169664763 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 169664904 169664904 single base substitution C T intron_variant MELA-AU 2 169664904 169664904 single base substitution C T upstream_gene_variant MELA-AU 2 169665347 169665347 single base substitution G A intron_variant MELA-AU 2 169665347 169665347 single base substitution G A upstream_gene_variant MELA-AU 2 169665814 169665814 single base substitution G A intron_variant MELA-AU 2 169665814 169665814 single base substitution G A upstream_gene_variant MELA-AU 2 169666179 169666179 single base substitution G A intron_variant MELA-AU 2 169666179 169666179 single base substitution G A upstream_gene_variant MELA-AU 2 169666538 169666538 single base substitution G A intron_variant MELA-AU 2 169666538 169666538 single base substitution G A upstream_gene_variant MELA-AU 2 169666571 169666571 single base substitution G A intron_variant MELA-AU 2 169666571 169666571 single base substitution G A upstream_gene_variant MELA-AU 2 169666639 169666639 single base substitution C T intron_variant MELA-AU 2 169666639 169666639 single base substitution C T upstream_gene_variant MELA-AU 2 169666673 169666673 single base substitution G A intron_variant MELA-AU 2 169666673 169666673 single base substitution G A upstream_gene_variant MELA-AU 2 169666739 169666739 single base substitution C T intron_variant MELA-AU 2 169666739 169666739 single base substitution C T upstream_gene_variant MELA-AU 2 169666990 169666990 single base substitution G A intron_variant MELA-AU 2 169666990 169666990 single base substitution G A upstream_gene_variant MELA-AU 2 169667006 169667006 single base substitution G A intron_variant MELA-AU 2 169667006 169667006 single base substitution G A upstream_gene_variant MELA-AU 2 169667091 169667091 single base substitution G A intron_variant MELA-AU 2 169667091 169667091 single base substitution G A upstream_gene_variant MELA-AU 2 169667180 169667180 single base substitution G A intron_variant MELA-AU 2 169667180 169667180 single base substitution G A upstream_gene_variant MELA-AU 2 169667935 169667935 single base substitution G A intron_variant MELA-AU 2 169667935 169667935 single base substitution G A splice_region_variant MELA-AU 2 169667961 169667961 single base substitution C T intron_variant MELA-AU 2 169668445 169668445 single base substitution G A exon_variant MELA-AU 2 169668445 169668445 single base substitution G A intron_variant MELA-AU 2 169668694 169668694 single base substitution T C downstream_gene_variant MELA-AU 2 169668694 169668694 single base substitution T C intron_variant MELA-AU 2 169668958 169668958 single base substitution C T downstream_gene_variant MELA-AU 2 169668958 169668958 single base substitution C T intron_variant MELA-AU 2 169669052 169669052 single base substitution G A downstream_gene_variant MELA-AU 2 169669052 169669052 single base substitution G A intron_variant MELA-AU 2 169669213 169669213 single base substitution G A downstream_gene_variant MELA-AU 2 169669213 169669213 single base substitution G A intron_variant MELA-AU 2 169669293 169669293 single base substitution G A downstream_gene_variant MELA-AU 2 169669293 169669293 single base substitution G A intron_variant MELA-AU 2 169669551 169669551 single base substitution C T downstream_gene_variant MELA-AU 2 169669551 169669551 single base substitution C T intron_variant MELA-AU 2 169669651 169669651 single base substitution G A downstream_gene_variant MELA-AU 2 169669651 169669651 single base substitution G A intron_variant MELA-AU 2 169669665 169669666 multiple base substitution (>=2bp and <=200bp) TA AC downstream_gene_variant MELA-AU 2 169669665 169669666 multiple base substitution (>=2bp and <=200bp) TA AC intron_variant MELA-AU 2 169670063 169670063 single base substitution G A downstream_gene_variant MELA-AU 2 169670063 169670063 single base substitution G A intron_variant MELA-AU 2 169670065 169670065 single base substitution C A downstream_gene_variant MELA-AU 2 169670065 169670065 single base substitution C A intron_variant MELA-AU 2 169670140 169670140 single base substitution G A downstream_gene_variant MELA-AU 2 169670140 169670140 single base substitution G A intron_variant MELA-AU 2 169670190 169670191 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 169670190 169670191 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 169670578 169670578 single base substitution G A downstream_gene_variant MELA-AU 2 169670578 169670578 single base substitution G A intron_variant MELA-AU 2 169670743 169670743 single base substitution C T downstream_gene_variant MELA-AU 2 169670743 169670743 single base substitution C T intron_variant MELA-AU 2 169670864 169670864 single base substitution C T downstream_gene_variant MELA-AU 2 169670864 169670864 single base substitution C T intron_variant MELA-AU 2 169670886 169670886 single base substitution C T downstream_gene_variant MELA-AU 2 169670886 169670886 single base substitution C T intron_variant MELA-AU 2 169671136 169671136 single base substitution C T downstream_gene_variant MELA-AU 2 169671136 169671136 single base substitution C T intron_variant MELA-AU 2 169671280 169671280 single base substitution T A downstream_gene_variant MELA-AU 2 169671280 169671280 single base substitution T A intron_variant MELA-AU 2 169671381 169671381 single base substitution G A downstream_gene_variant MELA-AU 2 169671381 169671381 single base substitution G A intron_variant MELA-AU 2 169671451 169671451 single base substitution A G downstream_gene_variant MELA-AU 2 169671451 169671451 single base substitution A G intron_variant MELA-AU 2 169671809 169671809 single base substitution A T downstream_gene_variant MELA-AU 2 169671809 169671809 single base substitution A T intron_variant MELA-AU 2 169672502 169672502 single base substitution G A downstream_gene_variant MELA-AU 2 169672502 169672502 single base substitution G A intron_variant MELA-AU 2 169672597 169672597 single base substitution G A downstream_gene_variant MELA-AU 2 169672597 169672597 single base substitution G A intron_variant MELA-AU 2 169672721 169672721 single base substitution C T downstream_gene_variant MELA-AU 2 169672721 169672721 single base substitution C T intron_variant MELA-AU 2 169672838 169672838 single base substitution C T downstream_gene_variant MELA-AU 2 169672838 169672838 single base substitution C T intron_variant MELA-AU 2 169672918 169672918 single base substitution C T downstream_gene_variant MELA-AU 2 169672918 169672918 single base substitution C T intron_variant MELA-AU 2 169672934 169672934 single base substitution G A downstream_gene_variant MELA-AU 2 169672934 169672934 single base substitution G A intron_variant MELA-AU 2 169673123 169673123 single base substitution C T downstream_gene_variant MELA-AU 2 169673123 169673123 single base substitution C T intron_variant MELA-AU 2 169673144 169673144 single base substitution C T downstream_gene_variant MELA-AU 2 169673144 169673144 single base substitution C T intron_variant MELA-AU 2 169673152 169673152 single base substitution C T downstream_gene_variant MELA-AU 2 169673152 169673152 single base substitution C T intron_variant MELA-AU 2 169673284 169673284 single base substitution C T downstream_gene_variant MELA-AU 2 169673284 169673284 single base substitution C T intron_variant MELA-AU 2 169673729 169673729 single base substitution G A intron_variant MELA-AU 2 169673776 169673776 single base substitution G A intron_variant MELA-AU 2 169673821 169673821 single base substitution G A intron_variant MELA-AU 2 169673940 169673940 single base substitution C T intron_variant MELA-AU 2 169674434 169674434 single base substitution G A intron_variant MELA-AU 2 169674763 169674763 single base substitution G A exon_variant MELA-AU 2 169674763 169674763 single base substitution G A intron_variant MELA-AU 2 169674898 169674898 single base substitution C T intron_variant MELA-AU 2 169675190 169675190 single base substitution T C intron_variant MELA-AU 2 169675351 169675351 single base substitution A T intron_variant MELA-AU 2 169675628 169675628 single base substitution G A intron_variant MELA-AU 2 169675914 169675914 single base substitution C T intron_variant MELA-AU 2 169676074 169676074 single base substitution C T intron_variant MELA-AU 2 169676192 169676192 single base substitution G A intron_variant MELA-AU 2 169676379 169676379 single base substitution C T intron_variant MELA-AU 2 169676884 169676884 single base substitution G A intron_variant MELA-AU 2 169676893 169676893 single base substitution G A intron_variant MELA-AU 2 169677338 169677338 single base substitution G A intron_variant MELA-AU 2 169678297 169678297 single base substitution G A intron_variant MELA-AU 2 169678703 169678703 single base substitution C T intron_variant MELA-AU 2 169679022 169679022 single base substitution G A intron_variant MELA-AU 2 169679269 169679269 single base substitution A T intron_variant MELA-AU 2 169679274 169679274 single base substitution G A intron_variant MELA-AU 2 169680278 169680278 single base substitution G A intron_variant MELA-AU 2 169680558 169680558 single base substitution C T intron_variant MELA-AU 2 169680579 169680579 single base substitution C T intron_variant MELA-AU 2 169681000 169681000 single base substitution G A intron_variant MELA-AU 2 169681047 169681047 single base substitution G A intron_variant MELA-AU 2 169681227 169681227 single base substitution G A intron_variant MELA-AU 2 169681227 169681227 single base substitution G A missense_variant S66N 197G>A MELA-AU 2 169681227 169681227 single base substitution G A splice_region_variant MELA-AU 2 169681251 169681251 single base substitution G A intron_variant MELA-AU 2 169681376 169681376 single base substitution C T intron_variant MELA-AU 2 169681426 169681426 single base substitution G A intron_variant MELA-AU 2 169681454 169681455 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 2 169681573 169681573 single base substitution C T intron_variant MELA-AU 2 169681756 169681756 single base substitution C T intron_variant MELA-AU 2 169682025 169682025 single base substitution G A intron_variant MELA-AU 2 169682031 169682031 single base substitution A C intron_variant MELA-AU 2 169682256 169682256 single base substitution G A intron_variant MELA-AU 2 169682316 169682316 single base substitution G A intron_variant MELA-AU 2 169682437 169682437 single base substitution T A intron_variant MELA-AU 2 169682492 169682492 single base substitution G A intron_variant MELA-AU 2 169682676 169682676 single base substitution G A intron_variant MELA-AU 2 169682737 169682737 single base substitution G A intron_variant MELA-AU 2 169682873 169682873 single base substitution G A intron_variant MELA-AU 2 169682997 169682997 single base substitution C T intron_variant MELA-AU 2 169683018 169683018 single base substitution A G intron_variant MELA-AU 2 169683391 169683391 single base substitution C T intron_variant MELA-AU 2 169683525 169683525 single base substitution G A intron_variant MELA-AU 2 169683785 169683785 single base substitution C T intron_variant MELA-AU 2 169684077 169684077 single base substitution C T intron_variant MELA-AU 2 169684088 169684088 single base substitution G A intron_variant MELA-AU 2 169684104 169684104 single base substitution G A intron_variant MELA-AU 2 169684168 169684168 single base substitution C T intron_variant MELA-AU 2 169684311 169684311 single base substitution T C intron_variant MELA-AU 2 169685323 169685323 single base substitution A T intron_variant MELA-AU 2 169686159 169686159 single base substitution C T intron_variant MELA-AU 2 169686165 169686165 single base substitution C T intron_variant MELA-AU 2 169686338 169686338 single base substitution G A intron_variant MELA-AU 2 169686342 169686343 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 169686364 169686364 single base substitution T C intron_variant MELA-AU 2 169686370 169686370 single base substitution G A intron_variant MELA-AU 2 169686657 169686657 single base substitution C T intron_variant MELA-AU 2 169686961 169686961 single base substitution G A intron_variant MELA-AU 2 169686989 169686989 single base substitution G A intron_variant MELA-AU 2 169687101 169687101 single base substitution A T intron_variant MELA-AU 2 169687196 169687196 single base substitution G A intron_variant MELA-AU 2 169687223 169687223 single base substitution C T intron_variant MELA-AU 2 169687242 169687242 single base substitution G A intron_variant MELA-AU 2 169687302 169687302 single base substitution C T intron_variant MELA-AU 2 169687334 169687334 single base substitution G A intron_variant MELA-AU 2 169687892 169687892 single base substitution G A intron_variant MELA-AU 2 169687925 169687925 single base substitution T A intron_variant MELA-AU 2 169687945 169687945 single base substitution A G intron_variant MELA-AU 2 169688159 169688159 single base substitution G A downstream_gene_variant MELA-AU 2 169688159 169688159 single base substitution G A intron_variant MELA-AU 2 169688527 169688527 single base substitution T C downstream_gene_variant MELA-AU 2 169688527 169688527 single base substitution T C intron_variant MELA-AU 2 169688552 169688552 single base substitution G A downstream_gene_variant MELA-AU 2 169688552 169688552 single base substitution G A intron_variant MELA-AU 2 169688586 169688586 single base substitution G A downstream_gene_variant MELA-AU 2 169688586 169688586 single base substitution G A intron_variant MELA-AU 2 169688611 169688611 single base substitution G A downstream_gene_variant MELA-AU 2 169688611 169688611 single base substitution G A intron_variant MELA-AU 2 169688624 169688624 single base substitution A G downstream_gene_variant MELA-AU 2 169688624 169688624 single base substitution A G intron_variant MELA-AU 2 169688751 169688751 single base substitution G A downstream_gene_variant MELA-AU 2 169688751 169688751 single base substitution G A intron_variant MELA-AU 2 169688867 169688867 single base substitution G A downstream_gene_variant MELA-AU 2 169688867 169688867 single base substitution G A intron_variant MELA-AU 2 169688959 169688959 single base substitution C T downstream_gene_variant MELA-AU 2 169688959 169688959 single base substitution C T intron_variant MELA-AU 2 169688966 169688966 single base substitution C T downstream_gene_variant MELA-AU 2 169688966 169688966 single base substitution C T intron_variant MELA-AU 2 169688969 169688969 single base substitution C T downstream_gene_variant MELA-AU 2 169688969 169688969 single base substitution C T intron_variant MELA-AU 2 169689094 169689094 single base substitution G A downstream_gene_variant MELA-AU 2 169689094 169689094 single base substitution G A intron_variant MELA-AU 2 169689286 169689286 single base substitution G A downstream_gene_variant MELA-AU 2 169689286 169689286 single base substitution G A intron_variant MELA-AU 2 169689346 169689346 single base substitution G A downstream_gene_variant MELA-AU 2 169689346 169689346 single base substitution G A intron_variant MELA-AU 2 169689402 169689402 single base substitution G A downstream_gene_variant MELA-AU 2 169689402 169689402 single base substitution G A intron_variant MELA-AU 2 169689410 169689410 single base substitution G A downstream_gene_variant MELA-AU 2 169689410 169689410 single base substitution G A intron_variant MELA-AU 2 169689714 169689714 single base substitution G A downstream_gene_variant MELA-AU 2 169689714 169689714 single base substitution G A intron_variant MELA-AU 2 169689840 169689840 single base substitution C T downstream_gene_variant MELA-AU 2 169689840 169689840 single base substitution C T intron_variant MELA-AU 2 169689850 169689850 single base substitution C T downstream_gene_variant MELA-AU 2 169689850 169689850 single base substitution C T intron_variant MELA-AU 2 169689972 169689972 single base substitution G T downstream_gene_variant MELA-AU 2 169689972 169689972 single base substitution G T intron_variant MELA-AU 2 169690472 169690472 single base substitution C T downstream_gene_variant MELA-AU 2 169690472 169690472 single base substitution C T intron_variant MELA-AU 2 169690575 169690575 single base substitution G A downstream_gene_variant MELA-AU 2 169690575 169690575 single base substitution G A intron_variant MELA-AU 2 169690723 169690723 single base substitution G A downstream_gene_variant MELA-AU 2 169690723 169690723 single base substitution G A intron_variant MELA-AU 2 169690928 169690928 single base substitution C T downstream_gene_variant MELA-AU 2 169690928 169690928 single base substitution C T intron_variant MELA-AU 2 169691275 169691275 single base substitution G A downstream_gene_variant MELA-AU 2 169691275 169691275 single base substitution G A intron_variant MELA-AU 2 169691532 169691532 single base substitution G A downstream_gene_variant MELA-AU 2 169691532 169691532 single base substitution G A intron_variant MELA-AU 2 169691670 169691670 single base substitution C T downstream_gene_variant MELA-AU 2 169691670 169691670 single base substitution C T intron_variant MELA-AU 2 169691707 169691707 single base substitution C T downstream_gene_variant MELA-AU 2 169691707 169691707 single base substitution C T intron_variant MELA-AU 2 169691780 169691780 single base substitution G A downstream_gene_variant MELA-AU 2 169691780 169691780 single base substitution G A intron_variant MELA-AU 2 169692376 169692376 single base substitution G A downstream_gene_variant MELA-AU 2 169692376 169692376 single base substitution G A intron_variant MELA-AU 2 169692579 169692579 single base substitution G A downstream_gene_variant MELA-AU 2 169692579 169692579 single base substitution G A intron_variant MELA-AU 2 169692749 169692749 single base substitution C T downstream_gene_variant MELA-AU 2 169692749 169692749 single base substitution C T intron_variant MELA-AU 2 169693036 169693036 single base substitution G A downstream_gene_variant MELA-AU 2 169693036 169693036 single base substitution G A intron_variant MELA-AU 2 169693138 169693138 single base substitution C T intron_variant MELA-AU 2 169693452 169693452 single base substitution G A intron_variant MELA-AU 2 169693652 169693652 single base substitution G A intron_variant MELA-AU 2 169694032 169694032 single base substitution G A intron_variant MELA-AU 2 169694830 169694830 single base substitution A G intron_variant MELA-AU 2 169694830 169694830 single base substitution A G upstream_gene_variant MELA-AU 2 169694884 169694884 single base substitution G A intron_variant MELA-AU 2 169694884 169694884 single base substitution G A upstream_gene_variant MELA-AU 2 169694891 169694891 single base substitution A G intron_variant MELA-AU 2 169694891 169694891 single base substitution A G upstream_gene_variant MELA-AU 2 169695003 169695003 single base substitution G A intron_variant MELA-AU 2 169695003 169695003 single base substitution G A upstream_gene_variant MELA-AU 2 169695020 169695020 single base substitution G A intron_variant MELA-AU 2 169695020 169695020 single base substitution G A upstream_gene_variant MELA-AU 2 169695250 169695250 single base substitution G A intron_variant MELA-AU 2 169695250 169695250 single base substitution G A upstream_gene_variant MELA-AU 2 169695597 169695597 single base substitution G A intron_variant MELA-AU 2 169695597 169695597 single base substitution G A upstream_gene_variant MELA-AU 2 169695687 169695687 single base substitution G A intron_variant MELA-AU 2 169695687 169695687 single base substitution G A upstream_gene_variant MELA-AU 2 169695998 169695998 single base substitution G A intron_variant MELA-AU 2 169695998 169695998 single base substitution G A upstream_gene_variant MELA-AU 2 169696134 169696134 single base substitution G A intron_variant MELA-AU 2 169696134 169696134 single base substitution G A upstream_gene_variant MELA-AU 2 169696615 169696615 single base substitution G A intron_variant MELA-AU 2 169696615 169696615 single base substitution G A upstream_gene_variant MELA-AU 2 169697104 169697104 single base substitution G A intron_variant MELA-AU 2 169697104 169697104 single base substitution G A upstream_gene_variant MELA-AU 2 169697286 169697286 single base substitution G A intron_variant MELA-AU 2 169697286 169697286 single base substitution G A upstream_gene_variant MELA-AU 2 169697337 169697337 single base substitution G A intron_variant MELA-AU 2 169697337 169697337 single base substitution G A upstream_gene_variant MELA-AU 2 169697507 169697507 single base substitution G A intron_variant MELA-AU 2 169697507 169697507 single base substitution G A upstream_gene_variant MELA-AU 2 169697780 169697780 single base substitution A T intron_variant MELA-AU 2 169697780 169697780 single base substitution A T upstream_gene_variant MELA-AU 2 169697783 169697783 single base substitution G A intron_variant MELA-AU 2 169697783 169697783 single base substitution G A upstream_gene_variant MELA-AU 2 169698203 169698203 single base substitution G A intron_variant MELA-AU 2 169698203 169698203 single base substitution G A upstream_gene_variant MELA-AU 2 169698221 169698221 single base substitution C T intron_variant MELA-AU 2 169698221 169698221 single base substitution C T upstream_gene_variant MELA-AU 2 169698479 169698479 single base substitution C T intron_variant MELA-AU 2 169698479 169698479 single base substitution C T upstream_gene_variant MELA-AU 2 169698571 169698571 single base substitution G T intron_variant MELA-AU 2 169698571 169698571 single base substitution G T upstream_gene_variant MELA-AU 2 169698616 169698616 single base substitution G A intron_variant MELA-AU 2 169698616 169698616 single base substitution G A upstream_gene_variant MELA-AU 2 169698713 169698713 single base substitution C T intron_variant MELA-AU 2 169698713 169698713 single base substitution C T upstream_gene_variant MELA-AU 2 169698922 169698922 single base substitution G A intron_variant MELA-AU 2 169698922 169698922 single base substitution G A upstream_gene_variant MELA-AU 2 169699257 169699258 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 169699257 169699258 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 169699299 169699299 single base substitution G A intron_variant MELA-AU 2 169699299 169699299 single base substitution G A upstream_gene_variant MELA-AU 2 169699823 169699823 single base substitution G A intron_variant MELA-AU 2 169699856 169699856 single base substitution C T intron_variant MELA-AU 2 169699981 169699981 single base substitution C T intron_variant MELA-AU 2 169700097 169700097 single base substitution G A intron_variant MELA-AU 2 169700156 169700156 single base substitution A G intron_variant MELA-AU 2 169700280 169700280 single base substitution G A intron_variant MELA-AU 2 169700353 169700353 single base substitution T C intron_variant MELA-AU 2 169700412 169700412 single base substitution G A intron_variant MELA-AU 2 169700626 169700626 single base substitution A G intron_variant MELA-AU 2 169701025 169701025 single base substitution C T intron_variant MELA-AU 2 169701206 169701207 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 169701456 169701456 single base substitution G A intron_variant MELA-AU 2 169701975 169701975 single base substitution C T intron_variant MELA-AU 2 169702361 169702361 single base substitution C T intron_variant MELA-AU 2 169702367 169702367 single base substitution G A intron_variant MELA-AU 2 169703052 169703052 single base substitution C T intron_variant MELA-AU 2 169703114 169703114 single base substitution G A intron_variant MELA-AU 2 169703573 169703573 single base substitution G A intron_variant MELA-AU 2 169703682 169703682 single base substitution G A intron_variant MELA-AU 2 169704290 169704290 single base substitution A G intron_variant MELA-AU 2 169705301 169705301 single base substitution G A intron_variant MELA-AU 2 169705660 169705660 single base substitution G C intron_variant MELA-AU 2 169705964 169705964 single base substitution C T intron_variant MELA-AU 2 169706894 169706895 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 169707093 169707093 single base substitution G A intron_variant MELA-AU 2 169707093 169707093 single base substitution G A upstream_gene_variant MELA-AU 2 169707705 169707705 single base substitution G A downstream_gene_variant MELA-AU 2 169707705 169707705 single base substitution G A intron_variant MELA-AU 2 169707705 169707705 single base substitution G A upstream_gene_variant MELA-AU 2 169707744 169707744 single base substitution A G downstream_gene_variant MELA-AU 2 169707744 169707744 single base substitution A G intron_variant MELA-AU 2 169707744 169707744 single base substitution A G upstream_gene_variant MELA-AU 2 169707755 169707755 single base substitution C T downstream_gene_variant MELA-AU 2 169707755 169707755 single base substitution C T intron_variant MELA-AU 2 169707755 169707755 single base substitution C T upstream_gene_variant MELA-AU 2 169709057 169709057 single base substitution A G downstream_gene_variant MELA-AU 2 169709057 169709057 single base substitution A G intron_variant MELA-AU 2 169709057 169709057 single base substitution A G upstream_gene_variant MELA-AU 2 169709110 169709111 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 169709110 169709111 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 169709110 169709111 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 169709247 169709247 single base substitution G A downstream_gene_variant MELA-AU 2 169709247 169709247 single base substitution G A intron_variant MELA-AU 2 169709247 169709247 single base substitution G A upstream_gene_variant MELA-AU 2 169709602 169709602 single base substitution C T downstream_gene_variant MELA-AU 2 169709602 169709602 single base substitution C T intron_variant MELA-AU 2 169709602 169709602 single base substitution C T upstream_gene_variant MELA-AU 2 169709694 169709694 single base substitution G A downstream_gene_variant MELA-AU 2 169709694 169709694 single base substitution G A intron_variant MELA-AU 2 169709694 169709694 single base substitution G A upstream_gene_variant MELA-AU 2 169709836 169709836 single base substitution C T downstream_gene_variant MELA-AU 2 169709836 169709836 single base substitution C T intron_variant MELA-AU 2 169709836 169709836 single base substitution C T upstream_gene_variant MELA-AU 2 169710065 169710065 single base substitution G A downstream_gene_variant MELA-AU 2 169710065 169710065 single base substitution G A intron_variant MELA-AU 2 169710065 169710065 single base substitution G A upstream_gene_variant MELA-AU 2 169710402 169710402 single base substitution G A downstream_gene_variant MELA-AU 2 169710402 169710402 single base substitution G A intron_variant MELA-AU 2 169710402 169710402 single base substitution G A upstream_gene_variant MELA-AU 2 169710480 169710480 single base substitution T C downstream_gene_variant MELA-AU 2 169710480 169710480 single base substitution T C intron_variant MELA-AU 2 169710480 169710480 single base substitution T C upstream_gene_variant MELA-AU 2 169710711 169710711 single base substitution G A downstream_gene_variant MELA-AU 2 169710711 169710711 single base substitution G A intron_variant MELA-AU 2 169710711 169710711 single base substitution G A upstream_gene_variant MELA-AU 2 169711303 169711303 single base substitution G C downstream_gene_variant MELA-AU 2 169711303 169711303 single base substitution G C intron_variant MELA-AU 2 169711303 169711303 single base substitution G C upstream_gene_variant MELA-AU 2 169711807 169711807 single base substitution G A downstream_gene_variant MELA-AU 2 169711807 169711807 single base substitution G A intron_variant MELA-AU 2 169711807 169711807 single base substitution G A upstream_gene_variant MELA-AU 2 169711914 169711914 single base substitution A T downstream_gene_variant MELA-AU 2 169711914 169711914 single base substitution A T exon_variant MELA-AU 2 169711914 169711914 single base substitution A T missense_variant K225I 674A>T MELA-AU 2 169711914 169711914 single base substitution A T missense_variant K275I 824A>T MELA-AU 2 169711914 169711914 single base substitution A T missense_variant K303I 908A>T MELA-AU 2 169711914 169711914 single base substitution A T missense_variant K360I 1079A>T MELA-AU 2 169711914 169711914 single base substitution A T upstream_gene_variant MELA-AU 2 169712665 169712665 single base substitution C G 3_prime_UTR_variant MELA-AU 2 169712665 169712665 single base substitution C G downstream_gene_variant MELA-AU 2 169712665 169712665 single base substitution C G exon_variant MELA-AU 2 169712665 169712665 single base substitution C G intron_variant MELA-AU 2 169712665 169712665 single base substitution C G upstream_gene_variant MELA-AU 2 169712805 169712805 single base substitution G A downstream_gene_variant MELA-AU 2 169712805 169712805 single base substitution G A exon_variant MELA-AU 2 169712805 169712805 single base substitution G A intron_variant MELA-AU 2 169712805 169712805 single base substitution G A upstream_gene_variant MELA-AU 2 169712931 169712931 single base substitution G A downstream_gene_variant MELA-AU 2 169712931 169712931 single base substitution G A exon_variant MELA-AU 2 169712931 169712931 single base substitution G A intron_variant MELA-AU 2 169712931 169712931 single base substitution G A upstream_gene_variant MELA-AU 2 169712948 169712948 single base substitution G A downstream_gene_variant MELA-AU 2 169712948 169712948 single base substitution G A exon_variant MELA-AU 2 169712948 169712948 single base substitution G A intron_variant MELA-AU 2 169712948 169712948 single base substitution G A upstream_gene_variant MELA-AU 2 169713120 169713120 single base substitution C T downstream_gene_variant MELA-AU 2 169713120 169713120 single base substitution C T exon_variant MELA-AU 2 169713120 169713120 single base substitution C T intron_variant MELA-AU 2 169713120 169713120 single base substitution C T upstream_gene_variant MELA-AU 2 169713127 169713128 multiple base substitution (>=2bp and <=200bp) AG TA downstream_gene_variant MELA-AU 2 169713127 169713128 multiple base substitution (>=2bp and <=200bp) AG TA exon_variant MELA-AU 2 169713127 169713128 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 2 169713127 169713128 multiple base substitution (>=2bp and <=200bp) AG TA upstream_gene_variant MELA-AU 2 169713205 169713205 single base substitution G A 3_prime_UTR_variant MELA-AU 2 169713205 169713205 single base substitution G A downstream_gene_variant MELA-AU 2 169713205 169713205 single base substitution G A exon_variant MELA-AU 2 169713205 169713205 single base substitution G A missense_variant E246K 736G>A MELA-AU 2 169713205 169713205 single base substitution G A missense_variant E296K 886G>A MELA-AU 2 169713205 169713205 single base substitution G A missense_variant E324K 970G>A MELA-AU 2 169713205 169713205 single base substitution G A missense_variant E381K 1141G>A MELA-AU 2 169713205 169713205 single base substitution G A upstream_gene_variant MELA-AU 2 169713501 169713501 single base substitution A T downstream_gene_variant MELA-AU 2 169713501 169713501 single base substitution A T intron_variant MELA-AU 2 169713501 169713501 single base substitution A T upstream_gene_variant MELA-AU 2 169713692 169713692 single base substitution G A downstream_gene_variant MELA-AU 2 169713692 169713692 single base substitution G A intron_variant MELA-AU 2 169713692 169713692 single base substitution G A upstream_gene_variant MELA-AU 2 169713843 169713843 single base substitution C T downstream_gene_variant MELA-AU 2 169713843 169713843 single base substitution C T intron_variant MELA-AU 2 169713843 169713843 single base substitution C T upstream_gene_variant MELA-AU 2 169713918 169713918 single base substitution G A downstream_gene_variant MELA-AU 2 169713918 169713918 single base substitution G A intron_variant MELA-AU 2 169713918 169713918 single base substitution G A upstream_gene_variant MELA-AU 2 169714096 169714096 single base substitution G A downstream_gene_variant MELA-AU 2 169714096 169714096 single base substitution G A intron_variant MELA-AU 2 169714096 169714096 single base substitution G A upstream_gene_variant MELA-AU 2 169714173 169714173 single base substitution G A downstream_gene_variant MELA-AU 2 169714173 169714173 single base substitution G A intron_variant MELA-AU 2 169714173 169714173 single base substitution G A upstream_gene_variant MELA-AU 2 169714232 169714232 single base substitution G A downstream_gene_variant MELA-AU 2 169714232 169714232 single base substitution G A intron_variant MELA-AU 2 169714232 169714232 single base substitution G A upstream_gene_variant MELA-AU 2 169714757 169714757 single base substitution G A downstream_gene_variant MELA-AU 2 169714757 169714757 single base substitution G A intron_variant MELA-AU 2 169714757 169714757 single base substitution G A upstream_gene_variant MELA-AU 2 169715205 169715205 single base substitution G A downstream_gene_variant MELA-AU 2 169715205 169715205 single base substitution G A intron_variant MELA-AU 2 169715205 169715205 single base substitution G A upstream_gene_variant MELA-AU 2 169715329 169715329 single base substitution G A downstream_gene_variant MELA-AU 2 169715329 169715329 single base substitution G A intron_variant MELA-AU 2 169715329 169715329 single base substitution G A upstream_gene_variant MELA-AU 2 169715928 169715928 single base substitution A G downstream_gene_variant MELA-AU 2 169715928 169715928 single base substitution A G exon_variant MELA-AU 2 169715928 169715928 single base substitution A G intron_variant MELA-AU 2 169716197 169716197 single base substitution G A downstream_gene_variant MELA-AU 2 169716197 169716197 single base substitution G A intron_variant MELA-AU 2 169716822 169716822 single base substitution G A downstream_gene_variant MELA-AU 2 169716822 169716822 single base substitution G A intron_variant MELA-AU 2 169716973 169716973 single base substitution G A downstream_gene_variant MELA-AU 2 169716973 169716973 single base substitution G A intron_variant MELA-AU 2 169717349 169717349 single base substitution G A downstream_gene_variant MELA-AU 2 169717349 169717349 single base substitution G A exon_variant MELA-AU 2 169717349 169717349 single base substitution G A missense_variant M330I 990G>A MELA-AU 2 169717349 169717349 single base substitution G A missense_variant M380I 1140G>A MELA-AU 2 169717349 169717349 single base substitution G A missense_variant M408I 1224G>A MELA-AU 2 169717349 169717349 single base substitution G A missense_variant M465I 1395G>A MELA-AU 2 169717435 169717435 single base substitution C T downstream_gene_variant MELA-AU 2 169717435 169717435 single base substitution C T intron_variant MELA-AU 2 169717969 169717969 single base substitution T C downstream_gene_variant MELA-AU 2 169717969 169717969 single base substitution T C intron_variant MELA-AU 2 169718627 169718627 single base substitution G T downstream_gene_variant MELA-AU 2 169718627 169718627 single base substitution G T intron_variant MELA-AU 2 169718953 169718953 single base substitution G A downstream_gene_variant MELA-AU 2 169718953 169718953 single base substitution G A intron_variant MELA-AU 2 169719125 169719125 single base substitution G A downstream_gene_variant MELA-AU 2 169719125 169719125 single base substitution G A intron_variant MELA-AU 2 169719322 169719322 single base substitution C T downstream_gene_variant MELA-AU 2 169719322 169719322 single base substitution C T intron_variant MELA-AU 2 169719330 169719330 single base substitution G A downstream_gene_variant MELA-AU 2 169719330 169719330 single base substitution G A intron_variant MELA-AU 2 169719785 169719785 single base substitution G A downstream_gene_variant MELA-AU 2 169719785 169719785 single base substitution G A intron_variant MELA-AU 2 169720591 169720592 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 169720591 169720592 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 169721122 169721122 single base substitution G A downstream_gene_variant MELA-AU 2 169721122 169721122 single base substitution G A intron_variant MELA-AU 2 169721288 169721288 single base substitution G A downstream_gene_variant MELA-AU 2 169721288 169721288 single base substitution G A intron_variant MELA-AU 2 169721703 169721703 single base substitution G A 3_prime_UTR_variant MELA-AU 2 169721703 169721703 single base substitution G A downstream_gene_variant MELA-AU 2 169721786 169721786 single base substitution C T 3_prime_UTR_variant MELA-AU 2 169721786 169721786 single base substitution C T downstream_gene_variant MELA-AU 2 169721850 169721850 single base substitution C T 3_prime_UTR_variant MELA-AU 2 169721850 169721850 single base substitution C T downstream_gene_variant MELA-AU 2 169722524 169722524 single base substitution G A downstream_gene_variant MELA-AU 2 169722546 169722546 single base substitution G A downstream_gene_variant MELA-AU 2 169722704 169722704 single base substitution G A downstream_gene_variant MELA-AU 2 169722829 169722829 single base substitution C T downstream_gene_variant MELA-AU 2 169723269 169723269 single base substitution C T downstream_gene_variant MELA-AU 2 169723546 169723546 single base substitution A G downstream_gene_variant MELA-AU 2 169723842 169723842 single base substitution G A downstream_gene_variant MELA-AU 2 169724114 169724114 single base substitution G A downstream_gene_variant MELA-AU 2 169724880 169724880 single base substitution G A downstream_gene_variant MELA-AU 2 169724948 169724948 single base substitution A G downstream_gene_variant MELA-AU 2 169725781 169725781 single base substitution G A downstream_gene_variant MELA-AU 2 169725885 169725885 single base substitution G A downstream_gene_variant MELA-AU 2 169725924 169725924 single base substitution A G downstream_gene_variant MELA-AU 2 169726455 169726455 single base substitution G A downstream_gene_variant ORCA-IN 2 169667281 169667281 single base substitution C T intron_variant ORCA-IN 2 169667281 169667281 single base substitution C T upstream_gene_variant ORCA-IN 2 169702302 169702302 insertion of <=200bp - C intron_variant ORCA-IN 2 169712224 169712224 single base substitution G A downstream_gene_variant ORCA-IN 2 169712224 169712224 single base substitution G A exon_variant ORCA-IN 2 169712224 169712224 single base substitution G A intron_variant ORCA-IN 2 169712224 169712224 single base substitution G A upstream_gene_variant ORCA-IN 2 169712980 169712980 single base substitution G C downstream_gene_variant ORCA-IN 2 169712980 169712980 single base substitution G C exon_variant ORCA-IN 2 169712980 169712980 single base substitution G C intron_variant ORCA-IN 2 169712980 169712980 single base substitution G C upstream_gene_variant ORCA-IN 2 169713446 169713446 single base substitution G C downstream_gene_variant ORCA-IN 2 169713446 169713446 single base substitution G C intron_variant ORCA-IN 2 169713446 169713446 single base substitution G C upstream_gene_variant OV-AU 2 169641678 169641678 single base substitution C T upstream_gene_variant OV-AU 2 169653385 169653385 single base substitution G A intron_variant OV-AU 2 169653385 169653385 single base substitution G A upstream_gene_variant OV-AU 2 169653620 169653620 single base substitution G A intron_variant OV-AU 2 169653620 169653620 single base substitution G A upstream_gene_variant OV-AU 2 169653701 169653701 single base substitution G T intron_variant OV-AU 2 169653701 169653701 single base substitution G T upstream_gene_variant OV-AU 2 169654001 169654001 single base substitution G A intron_variant OV-AU 2 169654001 169654001 single base substitution G A upstream_gene_variant OV-AU 2 169656844 169656844 single base substitution T C intron_variant OV-AU 2 169656844 169656844 single base substitution T C upstream_gene_variant OV-AU 2 169659042 169659042 single base substitution A T 5_prime_UTR_variant OV-AU 2 169659042 169659042 single base substitution A T upstream_gene_variant OV-AU 2 169659485 169659485 single base substitution A G intron_variant OV-AU 2 169659678 169659678 single base substitution G C intron_variant OV-AU 2 169661573 169661573 single base substitution C G intron_variant OV-AU 2 169670645 169670645 single base substitution T G downstream_gene_variant OV-AU 2 169670645 169670645 single base substitution T G intron_variant OV-AU 2 169675108 169675108 single base substitution G C intron_variant OV-AU 2 169680602 169680602 single base substitution A C intron_variant OV-AU 2 169683726 169683726 single base substitution T A intron_variant OV-AU 2 169692945 169692945 single base substitution C T downstream_gene_variant OV-AU 2 169692945 169692945 single base substitution C T intron_variant OV-AU 2 169695784 169695784 single base substitution G T intron_variant OV-AU 2 169695784 169695784 single base substitution G T upstream_gene_variant OV-AU 2 169697033 169697033 single base substitution C G intron_variant OV-AU 2 169697033 169697033 single base substitution C G upstream_gene_variant OV-AU 2 169704092 169704092 single base substitution A T intron_variant OV-AU 2 169723228 169723228 single base substitution C A downstream_gene_variant PACA-AU 2 169647832 169647832 single base substitution T G intron_variant PACA-AU 2 169648978 169648978 single base substitution G T intron_variant PACA-AU 2 169658985 169658986 deletion of <=200bp AC - 5_prime_UTR_variant PACA-AU 2 169658985 169658986 deletion of <=200bp AC - upstream_gene_variant PACA-AU 2 169663833 169663833 single base substitution G A intron_variant PACA-AU 2 169663833 169663833 single base substitution G A upstream_gene_variant PACA-AU 2 169664483 169664483 single base substitution C T intron_variant PACA-AU 2 169664483 169664483 single base substitution C T upstream_gene_variant PACA-AU 2 169668013 169668013 single base substitution T C intron_variant PACA-AU 2 169680700 169680700 single base substitution C G intron_variant PACA-AU 2 169681271 169681271 single base substitution A G intron_variant PACA-AU 2 169681347 169681347 single base substitution C T intron_variant PACA-AU 2 169691016 169691016 single base substitution C T downstream_gene_variant PACA-AU 2 169691016 169691016 single base substitution C T intron_variant PACA-AU 2 169700804 169700804 single base substitution C A intron_variant PACA-AU 2 169701466 169701466 single base substitution C T intron_variant PACA-AU 2 169704904 169704904 single base substitution G T intron_variant PACA-AU 2 169705557 169705557 single base substitution A G intron_variant PACA-AU 2 169705952 169705952 single base substitution A C intron_variant PACA-AU 2 169710375 169710375 single base substitution T C downstream_gene_variant PACA-AU 2 169710375 169710375 single base substitution T C intron_variant PACA-AU 2 169710375 169710375 single base substitution T C upstream_gene_variant PACA-AU 2 169713080 169713080 single base substitution G A downstream_gene_variant PACA-AU 2 169713080 169713080 single base substitution G A exon_variant PACA-AU 2 169713080 169713080 single base substitution G A intron_variant PACA-AU 2 169713080 169713080 single base substitution G A upstream_gene_variant PACA-AU 2 169715023 169715023 single base substitution G A downstream_gene_variant PACA-AU 2 169715023 169715023 single base substitution G A intron_variant PACA-AU 2 169715023 169715023 single base substitution G A upstream_gene_variant PACA-AU 2 169723235 169723235 insertion of <=200bp - T downstream_gene_variant PACA-AU 2 169723295 169723295 insertion of <=200bp - AAAC downstream_gene_variant PACA-CA 2 169638621 169638621 single base substitution C A upstream_gene_variant PACA-CA 2 169641420 169641420 single base substitution T G upstream_gene_variant PACA-CA 2 169642808 169642808 single base substitution A T upstream_gene_variant PACA-CA 2 169645039 169645039 single base substitution G A intron_variant PACA-CA 2 169646219 169646219 single base substitution G A intron_variant PACA-CA 2 169647881 169647881 single base substitution T G intron_variant PACA-CA 2 169647967 169647967 single base substitution G T intron_variant PACA-CA 2 169648636 169648636 single base substitution G T intron_variant PACA-CA 2 169649961 169649961 single base substitution T A intron_variant PACA-CA 2 169649961 169649961 single base substitution T A upstream_gene_variant PACA-CA 2 169649962 169649962 single base substitution A T intron_variant PACA-CA 2 169649962 169649962 single base substitution A T upstream_gene_variant PACA-CA 2 169658701 169658701 single base substitution C G intron_variant PACA-CA 2 169658701 169658701 single base substitution C G upstream_gene_variant PACA-CA 2 169659457 169659457 single base substitution G A intron_variant PACA-CA 2 169661272 169661272 insertion of <=200bp - A intron_variant PACA-CA 2 169661682 169661682 single base substitution A G intron_variant PACA-CA 2 169663791 169663791 single base substitution C G intron_variant PACA-CA 2 169663791 169663791 single base substitution C G upstream_gene_variant PACA-CA 2 169672351 169672351 single base substitution A G downstream_gene_variant PACA-CA 2 169672351 169672351 single base substitution A G intron_variant PACA-CA 2 169674703 169674703 single base substitution G T exon_variant PACA-CA 2 169674703 169674703 single base substitution G T intron_variant PACA-CA 2 169675350 169675350 insertion of <=200bp - T intron_variant PACA-CA 2 169680739 169680741 deletion of <=200bp CTT - intron_variant PACA-CA 2 169686093 169686093 single base substitution A C intron_variant PACA-CA 2 169689733 169689733 single base substitution A G downstream_gene_variant PACA-CA 2 169689733 169689733 single base substitution A G intron_variant PACA-CA 2 169698971 169698971 single base substitution T C intron_variant PACA-CA 2 169698971 169698971 single base substitution T C upstream_gene_variant PACA-CA 2 169699192 169699192 single base substitution A G intron_variant PACA-CA 2 169699192 169699192 single base substitution A G upstream_gene_variant PACA-CA 2 169701058 169701058 single base substitution T C intron_variant PACA-CA 2 169707796 169707796 single base substitution C T downstream_gene_variant PACA-CA 2 169707796 169707796 single base substitution C T exon_variant PACA-CA 2 169707796 169707796 single base substitution C T missense_variant T168M 503C>T PACA-CA 2 169707796 169707796 single base substitution C T missense_variant T218M 653C>T PACA-CA 2 169707796 169707796 single base substitution C T missense_variant T246M 737C>T PACA-CA 2 169707796 169707796 single base substitution C T missense_variant T303M 908C>T PACA-CA 2 169707796 169707796 single base substitution C T upstream_gene_variant PACA-CA 2 169710067 169710078 deletion of <=200bp AAATACATGTTT - downstream_gene_variant PACA-CA 2 169710067 169710078 deletion of <=200bp AAATACATGTTT - intron_variant PACA-CA 2 169710067 169710078 deletion of <=200bp AAATACATGTTT - upstream_gene_variant PACA-CA 2 169712698 169712698 single base substitution A G 3_prime_UTR_variant PACA-CA 2 169712698 169712698 single base substitution A G downstream_gene_variant PACA-CA 2 169712698 169712698 single base substitution A G exon_variant PACA-CA 2 169712698 169712698 single base substitution A G intron_variant PACA-CA 2 169712698 169712698 single base substitution A G upstream_gene_variant PACA-CA 2 169716638 169716638 single base substitution T C downstream_gene_variant PACA-CA 2 169716638 169716638 single base substitution T C intron_variant PACA-CA 2 169717992 169717992 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 169717992 169717992 deletion of <=200bp T - intron_variant PACA-CA 2 169718414 169718414 insertion of <=200bp - T downstream_gene_variant PACA-CA 2 169718414 169718414 insertion of <=200bp - T intron_variant PACA-CA 2 169719713 169719713 single base substitution G T downstream_gene_variant PACA-CA 2 169719713 169719713 single base substitution G T intron_variant PACA-CA 2 169720237 169720237 single base substitution G A downstream_gene_variant PACA-CA 2 169720237 169720237 single base substitution G A intron_variant PACA-CA 2 169721326 169721326 single base substitution C T downstream_gene_variant PACA-CA 2 169721326 169721326 single base substitution C T intron_variant PACA-CA 2 169721985 169721985 single base substitution G C 3_prime_UTR_variant PACA-CA 2 169721985 169721985 single base substitution G C downstream_gene_variant PACA-CA 2 169722607 169722607 single base substitution T G downstream_gene_variant PACA-CA 2 169724046 169724046 single base substitution G A downstream_gene_variant PAEN-AU 2 169723228 169723228 single base substitution C A downstream_gene_variant PAEN-IT 2 169681708 169681708 single base substitution A T intron_variant PAEN-IT 2 169717281 169717281 single base substitution T G downstream_gene_variant PAEN-IT 2 169717281 169717281 single base substitution T G intron_variant PBCA-DE 2 169638360 169638360 single base substitution C A upstream_gene_variant PBCA-DE 2 169643319 169643319 single base substitution T A intron_variant PBCA-DE 2 169676209 169676209 single base substitution T A intron_variant PBCA-DE 2 169682737 169682737 single base substitution G A intron_variant PBCA-DE 2 169685733 169685733 single base substitution C A intron_variant PBCA-DE 2 169699646 169699646 deletion of <=200bp T - intron_variant PBCA-DE 2 169702000 169702000 single base substitution T C intron_variant PBCA-DE 2 169702289 169702289 single base substitution T C intron_variant PBCA-DE 2 169713844 169713844 single base substitution G A downstream_gene_variant PBCA-DE 2 169713844 169713844 single base substitution G A intron_variant PBCA-DE 2 169713844 169713844 single base substitution G A upstream_gene_variant PBCA-DE 2 169717398 169717412 deletion of <=200bp AATCCAGGTTCTTCA - downstream_gene_variant PBCA-DE 2 169717398 169717412 deletion of <=200bp AATCCAGGTTCTTCA - exon_variant PBCA-DE 2 169717398 169717412 deletion of <=200bp AATCCAGGTTCTTCA - inframe_deletion NPGSS347 PBCA-DE 2 169717398 169717412 deletion of <=200bp AATCCAGGTTCTTCA - inframe_deletion NPGSS397 PBCA-DE 2 169717398 169717412 deletion of <=200bp AATCCAGGTTCTTCA - inframe_deletion NPGSS425 PBCA-DE 2 169717398 169717412 deletion of <=200bp AATCCAGGTTCTTCA - inframe_deletion NPGSS482 PRAD-CA 2 169655334 169655334 single base substitution T C intron_variant PRAD-CA 2 169655334 169655334 single base substitution T C upstream_gene_variant PRAD-CA 2 169682823 169682823 single base substitution G A intron_variant PRAD-CA 2 169713096 169713096 single base substitution T A downstream_gene_variant PRAD-CA 2 169713096 169713096 single base substitution T A exon_variant PRAD-CA 2 169713096 169713096 single base substitution T A intron_variant PRAD-CA 2 169713096 169713096 single base substitution T A upstream_gene_variant PRAD-CA 2 169724084 169724084 single base substitution A G downstream_gene_variant PRAD-UK 2 169651569 169651569 insertion of <=200bp - TTTTGT intron_variant PRAD-UK 2 169651569 169651569 insertion of <=200bp - TTTTGT upstream_gene_variant PRAD-UK 2 169660145 169660145 single base substitution A G intron_variant PRAD-UK 2 169686658 169686658 single base substitution G A intron_variant PRAD-UK 2 169687588 169687588 single base substitution C G intron_variant PRAD-UK 2 169693859 169693859 single base substitution G A intron_variant PRAD-UK 2 169714745 169714745 single base substitution C G downstream_gene_variant PRAD-UK 2 169714745 169714745 single base substitution C G intron_variant PRAD-UK 2 169714745 169714745 single base substitution C G upstream_gene_variant PRAD-UK 2 169719410 169719410 single base substitution A T downstream_gene_variant PRAD-UK 2 169719410 169719410 single base substitution A T intron_variant PRAD-UK 2 169725966 169725966 deletion of <=200bp C - downstream_gene_variant RECA-EU 2 169638419 169638419 single base substitution T C upstream_gene_variant RECA-EU 2 169653594 169653594 single base substitution T C intron_variant RECA-EU 2 169653594 169653594 single base substitution T C upstream_gene_variant RECA-EU 2 169654568 169654568 single base substitution C T intron_variant RECA-EU 2 169654568 169654568 single base substitution C T upstream_gene_variant RECA-EU 2 169655334 169655334 single base substitution T C intron_variant RECA-EU 2 169655334 169655334 single base substitution T C upstream_gene_variant RECA-EU 2 169666025 169666025 single base substitution T A intron_variant RECA-EU 2 169666025 169666025 single base substitution T A upstream_gene_variant RECA-EU 2 169667256 169667256 single base substitution A T intron_variant RECA-EU 2 169667256 169667256 single base substitution A T upstream_gene_variant RECA-EU 2 169668818 169668818 single base substitution A C downstream_gene_variant RECA-EU 2 169668818 169668818 single base substitution A C intron_variant RECA-EU 2 169683521 169683521 single base substitution T A intron_variant RECA-EU 2 169695122 169695122 single base substitution T G intron_variant RECA-EU 2 169695122 169695122 single base substitution T G upstream_gene_variant RECA-EU 2 169697768 169697768 single base substitution A G intron_variant RECA-EU 2 169697768 169697768 single base substitution A G upstream_gene_variant RECA-EU 2 169698214 169698214 single base substitution T G intron_variant RECA-EU 2 169698214 169698214 single base substitution T G upstream_gene_variant RECA-EU 2 169700723 169700723 single base substitution G T intron_variant RECA-EU 2 169701385 169701385 single base substitution G A intron_variant RECA-EU 2 169714975 169714975 single base substitution A G downstream_gene_variant RECA-EU 2 169714975 169714975 single base substitution A G intron_variant RECA-EU 2 169714975 169714975 single base substitution A G upstream_gene_variant SKCA-BR 2 169639128 169639128 single base substitution C T upstream_gene_variant SKCA-BR 2 169640562 169640564 deletion of <=200bp CAA - upstream_gene_variant SKCA-BR 2 169641542 169641542 single base substitution G A upstream_gene_variant SKCA-BR 2 169644110 169644110 single base substitution C T intron_variant SKCA-BR 2 169644368 169644368 single base substitution C T splice_region_variant SKCA-BR 2 169645508 169645508 single base substitution C T intron_variant SKCA-BR 2 169649003 169649003 single base substitution A T intron_variant SKCA-BR 2 169649260 169649260 single base substitution G A intron_variant SKCA-BR 2 169649552 169649552 single base substitution G A intron_variant SKCA-BR 2 169649916 169649916 single base substitution G A intron_variant SKCA-BR 2 169649916 169649916 single base substitution G A upstream_gene_variant SKCA-BR 2 169650177 169650177 single base substitution G A intron_variant SKCA-BR 2 169650177 169650177 single base substitution G A upstream_gene_variant SKCA-BR 2 169650815 169650815 single base substitution G A intron_variant SKCA-BR 2 169650815 169650815 single base substitution G A upstream_gene_variant SKCA-BR 2 169650863 169650863 insertion of <=200bp - ATTT intron_variant SKCA-BR 2 169650863 169650863 insertion of <=200bp - ATTT upstream_gene_variant SKCA-BR 2 169651685 169651685 single base substitution C T intron_variant SKCA-BR 2 169651685 169651685 single base substitution C T upstream_gene_variant SKCA-BR 2 169651947 169651947 single base substitution C T intron_variant SKCA-BR 2 169651947 169651947 single base substitution C T upstream_gene_variant SKCA-BR 2 169652668 169652668 single base substitution C T intron_variant SKCA-BR 2 169652668 169652668 single base substitution C T upstream_gene_variant SKCA-BR 2 169653021 169653021 single base substitution C T intron_variant SKCA-BR 2 169653021 169653021 single base substitution C T upstream_gene_variant SKCA-BR 2 169653589 169653589 insertion of <=200bp - CTTTTCT intron_variant SKCA-BR 2 169653589 169653589 insertion of <=200bp - CTTTTCT upstream_gene_variant SKCA-BR 2 169653591 169653591 insertion of <=200bp - TTTC intron_variant SKCA-BR 2 169653591 169653591 insertion of <=200bp - TTTC upstream_gene_variant SKCA-BR 2 169654003 169654003 single base substitution G A intron_variant SKCA-BR 2 169654003 169654003 single base substitution G A upstream_gene_variant SKCA-BR 2 169654055 169654055 single base substitution A G intron_variant SKCA-BR 2 169654055 169654055 single base substitution A G upstream_gene_variant SKCA-BR 2 169654223 169654223 single base substitution C T intron_variant SKCA-BR 2 169654223 169654223 single base substitution C T upstream_gene_variant SKCA-BR 2 169655311 169655311 single base substitution C T intron_variant SKCA-BR 2 169655311 169655311 single base substitution C T upstream_gene_variant SKCA-BR 2 169655334 169655334 insertion of <=200bp - TAGATAGAC intron_variant SKCA-BR 2 169655334 169655334 insertion of <=200bp - TAGATAGAC upstream_gene_variant SKCA-BR 2 169656057 169656057 single base substitution C A intron_variant SKCA-BR 2 169656057 169656057 single base substitution C A upstream_gene_variant SKCA-BR 2 169658244 169658244 single base substitution C T intron_variant SKCA-BR 2 169658244 169658244 single base substitution C T upstream_gene_variant SKCA-BR 2 169659661 169659661 single base substitution C T intron_variant SKCA-BR 2 169661264 169661264 single base substitution A G intron_variant SKCA-BR 2 169661392 169661392 single base substitution A G intron_variant SKCA-BR 2 169663318 169663318 single base substitution G A intron_variant SKCA-BR 2 169663318 169663318 single base substitution G A upstream_gene_variant SKCA-BR 2 169664529 169664529 single base substitution A C intron_variant SKCA-BR 2 169664529 169664529 single base substitution A C upstream_gene_variant SKCA-BR 2 169667067 169667067 single base substitution C T intron_variant SKCA-BR 2 169667067 169667067 single base substitution C T upstream_gene_variant SKCA-BR 2 169667077 169667077 single base substitution C T intron_variant SKCA-BR 2 169667077 169667077 single base substitution C T upstream_gene_variant SKCA-BR 2 169667171 169667171 single base substitution A G intron_variant SKCA-BR 2 169667171 169667171 single base substitution A G upstream_gene_variant SKCA-BR 2 169667245 169667245 single base substitution T A intron_variant SKCA-BR 2 169667245 169667245 single base substitution T A upstream_gene_variant SKCA-BR 2 169668760 169668760 single base substitution G A downstream_gene_variant SKCA-BR 2 169668760 169668760 single base substitution G A intron_variant SKCA-BR 2 169669213 169669213 single base substitution G A downstream_gene_variant SKCA-BR 2 169669213 169669213 single base substitution G A intron_variant SKCA-BR 2 169669779 169669779 single base substitution G A downstream_gene_variant SKCA-BR 2 169669779 169669779 single base substitution G A intron_variant SKCA-BR 2 169670407 169670407 single base substitution C T downstream_gene_variant SKCA-BR 2 169670407 169670407 single base substitution C T intron_variant SKCA-BR 2 169670539 169670539 single base substitution G A downstream_gene_variant SKCA-BR 2 169670539 169670539 single base substitution G A intron_variant SKCA-BR 2 169672637 169672637 single base substitution G A downstream_gene_variant SKCA-BR 2 169672637 169672637 single base substitution G A intron_variant SKCA-BR 2 169674491 169674491 single base substitution G A intron_variant SKCA-BR 2 169674577 169674577 single base substitution T C intron_variant SKCA-BR 2 169674783 169674783 single base substitution C T exon_variant SKCA-BR 2 169674783 169674783 single base substitution C T intron_variant SKCA-BR 2 169676304 169676304 single base substitution C T intron_variant SKCA-BR 2 169676593 169676593 single base substitution G T intron_variant SKCA-BR 2 169677118 169677118 single base substitution G C intron_variant SKCA-BR 2 169677228 169677228 insertion of <=200bp - CAA intron_variant SKCA-BR 2 169677804 169677804 single base substitution G A intron_variant SKCA-BR 2 169678068 169678068 single base substitution G A intron_variant SKCA-BR 2 169680359 169680359 single base substitution G A intron_variant SKCA-BR 2 169680635 169680635 single base substitution C T intron_variant SKCA-BR 2 169681278 169681278 insertion of <=200bp - TTTTGTTTG intron_variant SKCA-BR 2 169681723 169681723 single base substitution C T intron_variant SKCA-BR 2 169683134 169683134 single base substitution G A intron_variant SKCA-BR 2 169685077 169685077 single base substitution G A intron_variant SKCA-BR 2 169686030 169686030 single base substitution T C intron_variant SKCA-BR 2 169686937 169686937 single base substitution G A intron_variant SKCA-BR 2 169687017 169687017 single base substitution G A intron_variant SKCA-BR 2 169688163 169688163 single base substitution A C downstream_gene_variant SKCA-BR 2 169688163 169688163 single base substitution A C intron_variant SKCA-BR 2 169689652 169689653 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 2 169689652 169689653 deletion of <=200bp AT - intron_variant SKCA-BR 2 169690138 169690138 single base substitution C T downstream_gene_variant SKCA-BR 2 169690138 169690138 single base substitution C T intron_variant SKCA-BR 2 169690820 169690820 single base substitution G A downstream_gene_variant SKCA-BR 2 169690820 169690820 single base substitution G A synonymous_variant E135E 405G>A SKCA-BR 2 169690820 169690820 single base substitution G A synonymous_variant E163E 489G>A SKCA-BR 2 169690820 169690820 single base substitution G A synonymous_variant E85E 255G>A SKCA-BR 2 169691013 169691013 single base substitution G A downstream_gene_variant SKCA-BR 2 169691013 169691013 single base substitution G A intron_variant SKCA-BR 2 169695031 169695031 single base substitution C T intron_variant SKCA-BR 2 169695031 169695031 single base substitution C T upstream_gene_variant SKCA-BR 2 169695507 169695507 single base substitution C T intron_variant SKCA-BR 2 169695507 169695507 single base substitution C T upstream_gene_variant SKCA-BR 2 169696412 169696412 single base substitution T A intron_variant SKCA-BR 2 169696412 169696412 single base substitution T A upstream_gene_variant SKCA-BR 2 169697062 169697062 single base substitution C A intron_variant SKCA-BR 2 169697062 169697062 single base substitution C A upstream_gene_variant SKCA-BR 2 169697772 169697772 single base substitution G A intron_variant SKCA-BR 2 169697772 169697772 single base substitution G A upstream_gene_variant SKCA-BR 2 169698379 169698379 single base substitution A C intron_variant SKCA-BR 2 169698379 169698379 single base substitution A C upstream_gene_variant SKCA-BR 2 169698731 169698731 single base substitution G A intron_variant SKCA-BR 2 169698731 169698731 single base substitution G A upstream_gene_variant SKCA-BR 2 169702300 169702300 insertion of <=200bp - CTTCT intron_variant SKCA-BR 2 169702300 169702300 insertion of <=200bp - CTTCTTT intron_variant SKCA-BR 2 169705070 169705071 deletion of <=200bp CA - intron_variant SKCA-BR 2 169706429 169706429 insertion of <=200bp - TTTTG intron_variant SKCA-BR 2 169706900 169706900 single base substitution A T intron_variant SKCA-BR 2 169708891 169708891 single base substitution C T downstream_gene_variant SKCA-BR 2 169708891 169708891 single base substitution C T intron_variant SKCA-BR 2 169708891 169708891 single base substitution C T upstream_gene_variant SKCA-BR 2 169709994 169709994 single base substitution G A downstream_gene_variant SKCA-BR 2 169709994 169709994 single base substitution G A intron_variant SKCA-BR 2 169709994 169709994 single base substitution G A upstream_gene_variant SKCA-BR 2 169711695 169711695 single base substitution C T downstream_gene_variant SKCA-BR 2 169711695 169711695 single base substitution C T intron_variant SKCA-BR 2 169711695 169711695 single base substitution C T upstream_gene_variant SKCA-BR 2 169713889 169713889 single base substitution G A downstream_gene_variant SKCA-BR 2 169713889 169713889 single base substitution G A intron_variant SKCA-BR 2 169713889 169713889 single base substitution G A upstream_gene_variant SKCA-BR 2 169716851 169716851 single base substitution G A downstream_gene_variant SKCA-BR 2 169716851 169716851 single base substitution G A intron_variant SKCA-BR 2 169719654 169719654 single base substitution T C downstream_gene_variant SKCA-BR 2 169719654 169719654 single base substitution T C intron_variant SKCA-BR 2 169720795 169720796 deletion of <=200bp GT - downstream_gene_variant SKCA-BR 2 169720795 169720796 deletion of <=200bp GT - intron_variant SKCA-BR 2 169721658 169721658 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 169721658 169721658 single base substitution G A downstream_gene_variant SKCA-BR 2 169721659 169721659 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 169721659 169721659 single base substitution G A downstream_gene_variant SKCA-BR 2 169722287 169722287 insertion of <=200bp - AGAT downstream_gene_variant SKCA-BR 2 169724039 169724039 single base substitution G A downstream_gene_variant SKCA-BR 2 169726614 169726614 single base substitution G A downstream_gene_variant SKCM-US 2 169681153 169681153 single base substitution G A 5_prime_UTR_variant SKCM-US 2 169681153 169681153 single base substitution G A exon_variant SKCM-US 2 169681153 169681153 single base substitution G A intron_variant SKCM-US 2 169681153 169681153 single base substitution G A synonymous_variant L41L 123G>A SKCM-US 2 169681154 169681154 single base substitution G A 5_prime_UTR_variant SKCM-US 2 169681154 169681154 single base substitution G A exon_variant SKCM-US 2 169681154 169681154 single base substitution G A intron_variant SKCM-US 2 169681154 169681154 single base substitution G A missense_variant E42K 124G>A SKCM-US 2 169681219 169681219 single base substitution G A 3_prime_UTR_variant SKCM-US 2 169681219 169681219 single base substitution G A 5_prime_UTR_variant SKCM-US 2 169681219 169681219 single base substitution G A intron_variant SKCM-US 2 169681219 169681219 single base substitution G A synonymous_variant T63T 189G>A SKCM-US 2 169684702 169684702 single base substitution G A 3_prime_UTR_variant SKCM-US 2 169684702 169684702 single base substitution G A 5_prime_UTR_variant SKCM-US 2 169684702 169684702 single base substitution G A missense_variant G50R 148G>A SKCM-US 2 169684702 169684702 single base substitution G A missense_variant G78R 232G>A SKCM-US 2 169684707 169684707 single base substitution G A 3_prime_UTR_variant SKCM-US 2 169684707 169684707 single base substitution G A missense_variant M51I 153G>A SKCM-US 2 169684707 169684707 single base substitution G A missense_variant M79I 237G>A SKCM-US 2 169684707 169684707 single base substitution G A start_lost M1I 3G>A SKCM-US 2 169684963 169684963 single base substitution A G 3_prime_UTR_variant SKCM-US 2 169684963 169684963 single base substitution A G missense_variant I20M 60A>G SKCM-US 2 169684963 169684963 single base substitution A G missense_variant I70M 210A>G SKCM-US 2 169684963 169684963 single base substitution A G missense_variant I98M 294A>G SKCM-US 2 169707602 169707602 single base substitution G A exon_variant SKCM-US 2 169707602 169707602 single base substitution G A synonymous_variant L135L 405G>A SKCM-US 2 169707602 169707602 single base substitution G A synonymous_variant L185L 555G>A SKCM-US 2 169707602 169707602 single base substitution G A synonymous_variant L213L 639G>A SKCM-US 2 169707602 169707602 single base substitution G A synonymous_variant L270L 810G>A SKCM-US 2 169707602 169707602 single base substitution G A upstream_gene_variant SKCM-US 2 169711862 169711862 single base substitution G A downstream_gene_variant SKCM-US 2 169711862 169711862 single base substitution G A missense_variant E208K 622G>A SKCM-US 2 169711862 169711862 single base substitution G A missense_variant E258K 772G>A SKCM-US 2 169711862 169711862 single base substitution G A missense_variant E286K 856G>A SKCM-US 2 169711862 169711862 single base substitution G A missense_variant E343K 1027G>A SKCM-US 2 169711862 169711862 single base substitution G A splice_region_variant SKCM-US 2 169711862 169711862 single base substitution G A upstream_gene_variant SKCM-US 2 169711892 169711892 single base substitution G A downstream_gene_variant SKCM-US 2 169711892 169711892 single base substitution G A exon_variant SKCM-US 2 169711892 169711892 single base substitution G A missense_variant E218K 652G>A SKCM-US 2 169711892 169711892 single base substitution G A missense_variant E268K 802G>A SKCM-US 2 169711892 169711892 single base substitution G A missense_variant E296K 886G>A SKCM-US 2 169711892 169711892 single base substitution G A missense_variant E353K 1057G>A SKCM-US 2 169711892 169711892 single base substitution G A upstream_gene_variant SKCM-US 2 169711903 169711903 single base substitution G A downstream_gene_variant SKCM-US 2 169711903 169711903 single base substitution G A exon_variant SKCM-US 2 169711903 169711903 single base substitution G A synonymous_variant K221K 663G>A SKCM-US 2 169711903 169711903 single base substitution G A synonymous_variant K271K 813G>A SKCM-US 2 169711903 169711903 single base substitution G A synonymous_variant K299K 897G>A SKCM-US 2 169711903 169711903 single base substitution G A synonymous_variant K356K 1068G>A SKCM-US 2 169711903 169711903 single base substitution G A upstream_gene_variant SKCM-US 2 169711967 169711967 single base substitution G A downstream_gene_variant SKCM-US 2 169711967 169711967 single base substitution G A exon_variant SKCM-US 2 169711967 169711967 single base substitution G A missense_variant E243K 727G>A SKCM-US 2 169711967 169711967 single base substitution G A missense_variant E293K 877G>A SKCM-US 2 169711967 169711967 single base substitution G A missense_variant E321K 961G>A SKCM-US 2 169711967 169711967 single base substitution G A missense_variant E378K 1132G>A SKCM-US 2 169711967 169711967 single base substitution G A upstream_gene_variant SKCM-US 2 169717389 169717389 single base substitution G A downstream_gene_variant SKCM-US 2 169717389 169717389 single base substitution G A exon_variant SKCM-US 2 169717389 169717389 single base substitution G A missense_variant G344R 1030G>A SKCM-US 2 169717389 169717389 single base substitution G A missense_variant G394R 1180G>A SKCM-US 2 169717389 169717389 single base substitution G A missense_variant G422R 1264G>A SKCM-US 2 169717389 169717389 single base substitution G A missense_variant G479R 1435G>A SKCM-US 2 169721405 169721405 insertion of <=200bp - A downstream_gene_variant SKCM-US 2 169721405 169721405 insertion of <=200bp - A exon_variant SKCM-US 2 169721405 169721405 insertion of <=200bp - A frameshift_variant G404G? SKCM-US 2 169721405 169721405 insertion of <=200bp - A frameshift_variant G454G? SKCM-US 2 169721405 169721405 insertion of <=200bp - A frameshift_variant G482G? SKCM-US 2 169721405 169721405 insertion of <=200bp - A frameshift_variant G539G? STAD-US 2 169699539 169699539 deletion of <=200bp A - frameshift_variant E103 STAD-US 2 169699539 169699539 deletion of <=200bp A - frameshift_variant E153 STAD-US 2 169699539 169699539 deletion of <=200bp A - frameshift_variant E181 STAD-US 2 169699539 169699539 deletion of <=200bp A - upstream_gene_variant STAD-US 2 169707670 169707670 single base substitution T C exon_variant STAD-US 2 169707670 169707670 single base substitution T C missense_variant L158P 473T>C STAD-US 2 169707670 169707670 single base substitution T C missense_variant L208P 623T>C STAD-US 2 169707670 169707670 single base substitution T C missense_variant L236P 707T>C STAD-US 2 169707670 169707670 single base substitution T C missense_variant L293P 878T>C STAD-US 2 169707670 169707670 single base substitution T C upstream_gene_variant STAD-US 2 169707788 169707788 single base substitution G A downstream_gene_variant STAD-US 2 169707788 169707788 single base substitution G A splice_acceptor_variant STAD-US 2 169707788 169707788 single base substitution G A upstream_gene_variant STAD-US 2 169717340 169717340 deletion of <=200bp T - downstream_gene_variant STAD-US 2 169717340 169717340 deletion of <=200bp T - exon_variant STAD-US 2 169717340 169717340 deletion of <=200bp T - frameshift_variant P327 STAD-US 2 169717340 169717340 deletion of <=200bp T - frameshift_variant P377 STAD-US 2 169717340 169717340 deletion of <=200bp T - frameshift_variant P405 STAD-US 2 169717340 169717340 deletion of <=200bp T - frameshift_variant P462 STAD-US 2 169718513 169718513 single base substitution G A downstream_gene_variant STAD-US 2 169718513 169718513 single base substitution G A exon_variant STAD-US 2 169718513 169718513 single base substitution G A synonymous_variant L368L 1104G>A STAD-US 2 169718513 169718513 single base substitution G A synonymous_variant L418L 1254G>A STAD-US 2 169718513 169718513 single base substitution G A synonymous_variant L446L 1338G>A STAD-US 2 169718513 169718513 single base substitution G A synonymous_variant L503L 1509G>A STAD-US 2 169721415 169721415 single base substitution C T downstream_gene_variant STAD-US 2 169721415 169721415 single base substitution C T exon_variant STAD-US 2 169721415 169721415 single base substitution C T missense_variant H408Y 1222C>T STAD-US 2 169721415 169721415 single base substitution C T missense_variant H458Y 1372C>T STAD-US 2 169721415 169721415 single base substitution C T missense_variant H486Y 1456C>T STAD-US 2 169721415 169721415 single base substitution C T missense_variant H543Y 1627C>T UCEC-US 2 169668124 169668124 single base substitution G T 5_prime_UTR_variant UCEC-US 2 169668124 169668124 single base substitution G T exon_variant UCEC-US 2 169668124 169668124 single base substitution G T intron_variant UCEC-US 2 169668124 169668124 single base substitution G T missense_variant E25D 75G>T UCEC-US 2 169688035 169688035 single base substitution G A 3_prime_UTR_variant UCEC-US 2 169688035 169688035 single base substitution G A synonymous_variant Q104Q 312G>A UCEC-US 2 169688035 169688035 single base substitution G A synonymous_variant Q132Q 396G>A UCEC-US 2 169688035 169688035 single base substitution G A synonymous_variant Q54Q 162G>A UCEC-US 2 169690740 169690742 deletion of <=200bp AAG - downstream_gene_variant UCEC-US 2 169690740 169690742 deletion of <=200bp AAG - inframe_deletion K109 UCEC-US 2 169690740 169690742 deletion of <=200bp AAG - inframe_deletion K137 UCEC-US 2 169690740 169690742 deletion of <=200bp AAG - inframe_deletion K59 UCEC-US 2 169690745 169690745 single base substitution G T downstream_gene_variant UCEC-US 2 169690745 169690745 single base substitution G T missense_variant K110N 330G>T UCEC-US 2 169690745 169690745 single base substitution G T missense_variant K138N 414G>T UCEC-US 2 169690745 169690745 single base substitution G T missense_variant K60N 180G>T UCEC-US 2 169711899 169711899 single base substitution G A downstream_gene_variant UCEC-US 2 169711899 169711899 single base substitution G A exon_variant UCEC-US 2 169711899 169711899 single base substitution G A missense_variant R220Q 659G>A UCEC-US 2 169711899 169711899 single base substitution G A missense_variant R270Q 809G>A UCEC-US 2 169711899 169711899 single base substitution G A missense_variant R298Q 893G>A UCEC-US 2 169711899 169711899 single base substitution G A missense_variant R355Q 1064G>A UCEC-US 2 169711899 169711899 single base substitution G A upstream_gene_variant UCEC-US 2 169713243 169713243 single base substitution C A 3_prime_UTR_variant UCEC-US 2 169713243 169713243 single base substitution C A downstream_gene_variant UCEC-US 2 169713243 169713243 single base substitution C A exon_variant UCEC-US 2 169713243 169713243 single base substitution C A missense_variant F258L 774C>A UCEC-US 2 169713243 169713243 single base substitution C A missense_variant F308L 924C>A UCEC-US 2 169713243 169713243 single base substitution C A missense_variant F336L 1008C>A UCEC-US 2 169713243 169713243 single base substitution C A missense_variant F393L 1179C>A UCEC-US 2 169713243 169713243 single base substitution C A upstream_gene_variant UCEC-US 2 169717333 169717333 single base substitution C T downstream_gene_variant UCEC-US 2 169717333 169717333 single base substitution C T exon_variant UCEC-US 2 169717333 169717333 single base substitution C T missense_variant S325F 974C>T UCEC-US 2 169717333 169717333 single base substitution C T missense_variant S375F 1124C>T UCEC-US 2 169717333 169717333 single base substitution C T missense_variant S403F 1208C>T UCEC-US 2 169717333 169717333 single base substitution C T missense_variant S460F 1379C>T UCEC-US 2 169721449 169721449 single base substitution C A downstream_gene_variant UCEC-US 2 169721449 169721449 single base substitution C A exon_variant UCEC-US 2 169721449 169721449 single base substitution C A stop_gained S419* 1256C>A UCEC-US 2 169721449 169721449 single base substitution C A stop_gained S469* 1406C>A UCEC-US 2 169721449 169721449 single base substitution C A stop_gained S497* 1490C>A UCEC-US 2 169721449 169721449 single base substitution C A stop_gained S554* 1661C>A UCEC-US 2 169721470 169721470 single base substitution C T downstream_gene_variant UCEC-US 2 169721470 169721470 single base substitution C T exon_variant UCEC-US 2 169721470 169721470 single base substitution C T missense_variant T426I 1277C>T UCEC-US 2 169721470 169721470 single base substitution C T missense_variant T476I 1427C>T UCEC-US 2 169721470 169721470 single base substitution C T missense_variant T504I 1511C>T UCEC-US 2 169721470 169721470 single base substitution C T missense_variant T561I 1682C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SNU-175 COSM1400991 c.566delA p.N191fs*9 Deletion - Frameshift 2:168843053-168843053 + 587350 COSM1217601 c.1214C>T p.P405L Substitution - Missense 2:168860829-168860829 + 2492729 COSM5730081 c.837C>T p.F279F Substitution - coding silent 2:168851386-168851386 + PD9592a COSM5782481 c.73G>C p.E25Q Substitution - Missense 2:168811612-168811612 + ME032T COSM227229 c.460G>A p.V154I Substitution - Missense 2:168834281-168834281 + CLL044 COSM1291349 c.1404C>A p.H468Q Substitution - Missense 2:168864853-168864853 + MDA-MB-435 COSM1669386 c.1453G>T p.G485C Substitution - Missense 2:168864902-168864902 + TCGA-AM-5821-01 COSM3757748 c.1146T>C p.P382P Substitution - coding silent 2:168859604-168859604 + ICGC_0062 COSM1157762 c.1216T>C p.F406L Substitution - Missense 2:168860831-168860831 + TCGA-EE-A2MS-06 COSM3569596 c.1264G>A p.G422R Substitution - Missense 2:168860879-168860879 + TCGA-FR-A69P-06 COSM3314555 c.237G>A p.M79I Substitution - Missense 2:168828197-168828197 + TCGA-AC-A3OD-01 COSM5834285 c.964delG p.G322fs*27 Deletion - Frameshift 2:168855460-168855460 + pfg008T COSM1641692 c.1447_1448insA p.G485fs*>23 Insertion - Frameshift 2:168864896-168864897 + TCGA-EE-A2MJ-06 COSM3569590 c.294A>G p.I98M Substitution - Missense 2:168828453-168828453 + HCC2998 COSM3314594 c.1083G>A p.A361A Substitution - coding silent 2:168859541-168859541 + 07-058 COSM3736221 c.1105A>G p.M369V Substitution - Missense 2:168859563-168859563 + TCGA-CG-4305-01 COSM4086532 c.730-1G>A p.? Unknown 2:168851278-168851278 + ESO-887 COSM1259317 c.62C>G p.S21C Substitution - Missense 2:168811601-168811601 + TCGA-FW-A3R5-06 COSM3895279 c.897G>A p.K299K Substitution - coding silent 2:168855393-168855393 + TCGA-D1-A16Y-01 COSM1009091 c.1208C>T p.S403F Substitution - Missense 2:168860823-168860823 + pfg212T COSM1400991 c.566delA p.N191fs*9 Deletion - Frameshift 2:168843053-168843053 + CSCC-6-T COSM4528971 c.1405G>A p.E469K Substitution - Missense 2:168864854-168864854 + BCM501T COSM4951943 c.353A>T p.E118V Substitution - Missense 2:168831482-168831482 + CSCC-44-T COSM4528395 c.1363G>A p.D455N Substitution - Missense 2:168862028-168862028 + CHC1712T COSM4792018 c.1312C>A p.L438I Substitution - Missense 2:168861977-168861977 + CCK81 COSM3314604 c.1191T>C p.H397H Substitution - coding silent 2:168860806-168860806 + TCGA-RP-A693-06 COSM4895604 c.856G>A p.E286K Substitution - Missense 2:168855352-168855352 + TCGA-AG-A002-01 COSM262440 c.1414G>T p.E472* Substitution - Nonsense 2:168864863-168864863 + CLL134 COSM1291347 c.764T>C p.I255T Substitution - Missense 2:168851313-168851313 + ESCC_118 COSM5640262 c.1234G>C p.E412Q Substitution - Missense 2:168860849-168860849 + PD5125a COSM3719619 c.666T>C p.L222L Substitution - coding silent 2:168851119-168851119 + TCGA-AP-A0LG-01 COSM1009082 c.409_411delAAG p.K139delK Deletion - In frame 2:168834230-168834232 + TCGA-AZ-4315-01 COSM1009087 c.893G>A p.R298Q Substitution - Missense 2:168855389-168855389 + TCGA-BR-4368-01 COSM4086534 c.1338G>A p.L446L Substitution - coding silent 2:168862003-168862003 + TCGA-B5-A11J-01 COSM1009079 c.396G>A p.Q132Q Substitution - coding silent 2:168831525-168831525 + BK0043 COSM4187374 c.539T>C p.L180S Substitution - Missense 2:168843026-168843026 + Pat_45_B COSM5860517 c.1125A>C p.Q375H Substitution - Missense 2:168859583-168859583 + TCGA-AX-A05Z-01 COSM1009084 c.414G>T p.K138N Substitution - Missense 2:168834235-168834235 + TCGA-FR-A3R1-01 COSM3569584 c.123G>A p.L41L Substitution - coding silent 2:168824643-168824643 + sysucc-274T COSM5476246 c.1445G>T p.G482V Substitution - Missense 2:168864894-168864894 + PTC-7C COSM3757748 c.1146T>C p.P382P Substitution - coding silent 2:168859604-168859604 + TCGA-AX-A0J0-01 COSM1009077 c.75G>T p.E25D Substitution - Missense 2:168811614-168811614 + TCGA-AC-A23H-01 COSM3837330 c.1343C>G p.S448C Substitution - Missense 2:168862008-168862008 + T3090 COSM4707581 c.974G>A p.R325Q Substitution - Missense 2:168856699-168856699 + CHC1712T COSM4792018 c.1312C>A p.L438I Substitution - Missense 2:168861977-168861977 + 224 COSM4425649 c.260+4A>C p.? Unknown 2:168828224-168828224 + TCGA-BH-A0DD-01 COSM441433 c.929_930delAG p.D312fs*2 Deletion - Frameshift 2:168855425-168855426 + TCGA-FR-A3YO-06 COSM3569586 c.124G>A p.E42K Substitution - Missense 2:168824644-168824644 + 2492723 COSM5723604 c.1477G>A p.E493K Substitution - Missense 2:168864926-168864926 + ESCC_40 COSM5629381 c.1286C>A p.S429* Substitution - Nonsense 2:168860901-168860901 + TCGA-BS-A0UF-01 COSM1009087 c.893G>A p.R298Q Substitution - Missense 2:168855389-168855389 + TCGA-CC-A7IH-01 COSM4924112 c.130A>C p.S44R Substitution - Missense 2:168824650-168824650 + T2578 COSM4707583 c.1082C>T p.A361V Substitution - Missense 2:168859540-168859540 + SNU-175 COSM3314557 c.248C>T p.A83V Substitution - Missense 2:168828208-168828208 + C086 COSM5535533 c.7G>A p.D3N Substitution - Missense 2:168802653-168802653 + TCGA-33-4583-01 COSM716850 c.674A>G p.N225S Substitution - Missense 2:168851127-168851127 + S00827 COSM313296 c.1077_1078GG>TT p.L359>? Complex 2:168859535-168859536 + SNUH_G76_S1 COSM4417509 c.406-8T>C p.? Unknown 2:168834219-168834219 + 2492721 COSM5723604 c.1477G>A p.E493K Substitution - Missense 2:168864926-168864926 + TCGA-CA-6716-01 COSM1400989 c.565_566insA p.N191fs*36 Insertion - Frameshift 2:168843052-168843053 + 2492709 COSM5717051 c.1380A>G p.E460E Substitution - coding silent 2:168862045-168862045 + BCM501T COSM4951943 c.353A>T p.E118V Substitution - Missense 2:168831482-168831482 + PCSI_0044_Pa_P_526 COSM3379850 c.737C>T p.T246M Substitution - Missense 2:168851286-168851286 + 587350 COSM1180890 c.1447delA p.G485fs*>22 Deletion - Frameshift 2:168864896-168864896 + TCGA-AP-A059-01 COSM1009095 c.1511C>T p.T504I Substitution - Missense 2:168864960-168864960 + CHEWS031 COSM4582785 c.731G>A p.C244Y Substitution - Missense 2:168851280-168851280 + TCGA-FS-A4FD-06 COSM3569588 c.189G>A p.T63T Substitution - coding silent 2:168824709-168824709 + YUSCA COSM5394870 c.389G>A p.W130* Substitution - Nonsense 2:168831518-168831518 + HCA7 COSM1400991 c.566delA p.N191fs*9 Deletion - Frameshift 2:168843053-168843053 + TCGA-AA-3663-01 COSM1400991 c.566delA p.N191fs*9 Deletion - Frameshift 2:168843053-168843053 + Au4 COSM418496 c.1224G>A p.M408I Substitution - Missense 2:168860839-168860839 + TCGA-BS-A0UF-01 COSM1009089 c.1008C>A p.F336L Substitution - Missense 2:168856733-168856733 + TCGA-AG-3902-01 COSM5069775 c.630+3A>G p.? Unknown 2:168843120-168843120 + CSCC-27-T COSM4559889 c.651G>A p.K217K Substitution - coding silent 2:168851104-168851104 + Pat_41_B COSM5860515 c.950C>T p.S317L Substitution - Missense 2:168855446-168855446 + PCSI_0044_Pa_P COSM3379850 c.737C>T p.T246M Substitution - Missense 2:168851286-168851286 + pfg068T COSM1400991 c.566delA p.N191fs*9 Deletion - Frameshift 2:168843053-168843053 + TCGA-DK-A1AB-01 COSM418496 c.1224G>A p.M408I Substitution - Missense 2:168860839-168860839 + S00827 COSM313296 c.1077_1078GG>TT p.L359>? Complex 2:168859535-168859536 + MDA-N COSM1669386 c.1453G>T p.G485C Substitution - Missense 2:168864902-168864902 + TCGA-D3-A3C8-06 COSM3569594 c.961G>A p.E321K Substitution - Missense 2:168855457-168855457 + 2492720 COSM5723604 c.1477G>A p.E493K Substitution - Missense 2:168864926-168864926 + Pat_45_A COSM5860517 c.1125A>C p.Q375H Substitution - Missense 2:168859583-168859583 + YUFIT COSM5394872 c.1334C>T p.A445V Substitution - Missense 2:168861999-168861999 + TCGA-AM-5820-01 COSM3694962 c.633C>A p.S211R Substitution - Missense 2:168851086-168851086 + T3021 COSM4707585 c.1215delT p.L407fs*1 Deletion - Frameshift 2:168860830-168860830 + TCGA-BF-A1PX-01 COSM4905144 c.232G>A p.G78R Substitution - Missense 2:168828192-168828192 + CN-AML-CR-50-Dx COSM4417509 c.406-8T>C p.? Unknown 2:168834219-168834219 + KPOPBR-03-T COSM5965197 c.330G>T p.K110N Substitution - Missense 2:168828489-168828489 + TCGA-CZ-5459-01 COSM476180 c.661C>A p.Q221K Substitution - Missense 2:168851114-168851114 + T2269 COSM4707579 c.884A>C p.K295T Substitution - Missense 2:168855380-168855380 + TCGA-Q1-A73O-01 COSM4835019 c.597G>A p.L199L Substitution - coding silent 2:168843084-168843084 + S01578 COSM5670465 c.37G>A p.V13I Substitution - Missense 2:168811576-168811576 + M14 COSM1669386 c.1453G>T p.G485C Substitution - Missense 2:168864902-168864902 + TCGA-EE-A29E-06 COSM3569592 c.886G>A p.E296K Substitution - Missense 2:168855382-168855382 + 2492708 COSM5717051 c.1380A>G p.E460E Substitution - coding silent 2:168862045-168862045 + 2492710 COSM5717051 c.1380A>G p.E460E Substitution - coding silent 2:168862045-168862045 + TCGA-GV-A3JX-01 COSM1305825 c.168G>A p.L56L Substitution - coding silent 2:168824688-168824688 + 2492722 COSM5723604 c.1477G>A p.E493K Substitution - Missense 2:168864926-168864926 + RK308_C01 COSM3743297 c.1140C>T p.S380S Substitution - coding silent 2:168859598-168859598 + pfg008T COSM1641692 c.1447_1448insA p.G485fs*>23 Insertion - Frameshift 2:168864896-168864897 + RKO COSM3314561 c.299C>T p.P100L Substitution - Missense 2:168828458-168828458 + TCGA-G9-6367-01 COSM1129506 c.121C>T p.L41L Substitution - coding silent 2:168824641-168824641 + TCGA-D7-5578-01 COSM4086530 c.707T>C p.L236P Substitution - Missense 2:168851160-168851160 + 8031098 COSM1157762 c.1216T>C p.F406L Substitution - Missense 2:168860831-168860831 + TCGA-GF-A6C9-06 COSM4899642 c.639G>A p.L213L Substitution - coding silent 2:168851092-168851092 + KPOPBR-03-T COSM5965199 c.1477G>C p.E493Q Substitution - Missense 2:168864926-168864926 + TCGA-BS-A0UF-01 COSM1009093 c.1490C>A p.S497* Substitution - Nonsense 2:168864939-168864939 + TCGA-CG-4438-01 COSM4086536 c.1456C>T p.H486Y Substitution - Missense 2:168864905-168864905 + YUJUBE COSM5394874 c.1433G>A p.G478E Substitution - Missense 2:168864882-168864882 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.189780 2q31.1 607496 2469081|CGAP|BC014189|A/G|coding|Gly396Gly|1385|Validated; 2469081|CGAP|BC093072|A/G|coding|Gly474Gly|1425|Validated; 1513408|dbSNP|BC014189|A/G|coding|Gly396Gly|1385|Validated; 1513408|dbSNP|BC093072|A/G|coding|Gly474Gly|1425|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAG - InFrameDeletion p.K139delK c.414_416delGAA 2 169690740 UCEC - A Frameshift p.G542Rfs*57 c.1623dupA 2 169721406 CM - A Frameshift p.G542Rfs*57 c.1623dupA 2 169721407 STAD A G 3-UTRSNV . c.1689+244A>G 2 169721721 HC AG - Frameshift p.D369Hfs*2 c.1105_1106delGA 2 169711935 BRCA A G Missense p.I98M c.294A>G 2 169684963 CM A G Missense p.K458E c.1372A>G 2 169717326 LUAD A G Missense p.N282S c.845A>G 2 169707637 LUSC - A IntronicInsertion . c.1135+158dupA 2 169712116 CM C A Missense p.H525Q c.1575C>A 2 169721363 CLL C A Missense p.Q278K c.832C>A 2 169707624 RCCC C G Missense p.S21C c.62C>G 2 169668111 ESCA C T 5-UTRSNV . c.1-4C>T 2 169659153 CM C T Missense p.A83V c.248C>T 2 169684718 HNSC C T Missense p.H543Y c.1627C>T 2 169721415 STAD C T Missense p.S460F c.1379C>T 2 169717333 UCEC C T Synonymous p.N207N c.621C>T 2 169699618 HNSC G A IntronicSNV . c.1135+99G>A 2 169712069 CM G A IntronicSNV . c.1136-20G>A 2 169713180 CM G A Missense p.E378K c.1132G>A 2 169711967 CM G A Missense p.E381K c.1141G>A 2 169713205 CM G A Missense p.G479R c.1435G>A 2 169717389 CM G A Missense p.G78R c.232G>A 2 169684702 CM G A Missense p.M465I c.1395G>A 2 169717349 BLCA G A Missense p.V154I c.460G>A 2 169690791 CM G A SpliceAcceptorSNV . c.901-1G>A 2 169707788 STAD G A Synonymous p.L503L c.1509G>A 2 169718513 STAD G A Synonymous p.L56L c.168G>A 2 169681198 BLCA G A Synonymous p.Q132Q c.396G>A 2 169688035 UCEC GG TT MultiAAMissense p.L416_E417delinsF* c.1248_1249delinsTT 2 169716045 SCLC G T 5-UTRSNV . c.1-17G>T 2 169659140 MM T C IntronicSNV . c.1225-60T>C 2 169715962 CM T C Missense p.F463L c.1387T>C 2 169717341 PAAD T C Missense p.I312T c.935T>C 2 169707823 CLL T C Missense p.L293P c.878T>C 2 169707670 STAD T C Synonymous p.L153L c.459T>C 2 169690790 HNSC T G IntronicSNV . c.113+253T>G 2 169668415 DLBCL T - IntronicDeletion . c.198-9delT 2 169684652 STAD