Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 14 100996312 100996312 + Silent SNP T T C TCGA-OR-A5JC-01A-11D-A29I-10 TCGA-OR-A5JC-10A-01D-A29L-10 g.chr14:100996312T>C c.1569T>C c.(1567-1569)taT>taC p.Y523Y BLCA 14 100847571 100847571 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr14:100847571C>G c.310C>G c.(310-312)Caa>Gaa p.Q104E BLCA 14 100847804 100847804 + Silent SNP A A G TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr14:100847804A>G c.543A>G c.(541-543)ctA>ctG p.L181L BLCA 14 100992220 100992220 + Missense_Mutation SNP A A G TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr14:100992220A>G c.1115A>G c.(1114-1116)tAc>tGc p.Y372C BLCA 14 100992341 100992341 + Missense_Mutation SNP C C A TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chr14:100992341C>A c.1236C>A c.(1234-1236)ttC>ttA p.F412L BLCA 14 100995525 100995525 + Missense_Mutation SNP C C T TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr14:100995525C>T c.1393C>T c.(1393-1395)Cgg>Tgg p.R465W BLCA 14 100996170 100996170 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr14:100996170C>G c.1427C>G c.(1426-1428)tCa>tGa p.S476* BRCA 14 100847475 100847475 + Missense_Mutation SNP G G A TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr14:100847475G>A c.214G>A c.(214-216)Gac>Aac p.D72N BRCA 14 100847946 100847946 + Missense_Mutation SNP T T C TCGA-AR-A2LL-01A-11D-A17W-09 TCGA-AR-A2LL-10A-01D-A17W-09 g.chr14:100847946T>C c.685T>C c.(685-687)Tat>Cat p.Y229H CHOL 14 100847912 100847916 + Frame_Shift_Del DEL GTCTG GTCTG - TCGA-ZH-A8Y5-01A-11D-A417-09 TCGA-ZH-A8Y5-10A-01D-A41A-09 g.chr14:100847912_100847916delGTCTG c.651_655delGTCTG c.(649-657)gtgtctgagfs p.SE218fs CHOL 14 100847918 100847924 + Frame_Shift_Del DEL GTTTATT GTTTATT - TCGA-ZH-A8Y5-01A-11D-A417-09 TCGA-ZH-A8Y5-10A-01D-A41A-09 g.chr14:100847918_100847924delGTTTATT c.657_663delGTTTATT c.(655-663)gagtttattfs p.EFI219fs COAD 14 100847302 100847302 + Missense_Mutation SNP C C T TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr14:100847302C>T c.41C>T c.(40-42)gCg>gTg p.A14V COAD 14 100847632 100847632 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr14:100847632C>T c.371C>T c.(370-372)gCc>gTc p.A124V COAD 14 100847786 100847786 + Silent SNP C C A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr14:100847786C>A c.525C>A c.(523-525)ccC>ccA p.P175P COAD 14 100847916 100847916 + Missense_Mutation SNP G G C TCGA-A6-2683-01A-01W-0831-10 TCGA-A6-2683-10A-01W-0831-10 g.chr14:100847916G>C c.655G>C c.(655-657)Gag>Cag p.E219Q COAD 14 100934417 100934417 + Silent SNP A A C TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr14:100934417A>C c.882A>C c.(880-882)gcA>gcC p.A294A COAD 14 100934477 100934477 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:100934477C>T c.942C>T c.(940-942)ttC>ttT p.F314F COAD 14 100950404 100950404 + Silent SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:100950404C>A c.1044C>A c.(1042-1044)atC>atA p.I348I COAD 14 100992369 100992370 + Frame_Shift_Ins INS - - T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr14:100992369_100992370insT c.1264_1265insT c.(1264-1266)attfs p.I422fs COADREAD 14 100847302 100847302 + Missense_Mutation SNP C C T TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr14:100847302C>T c.41C>T c.(40-42)gCg>gTg p.A14V COADREAD 14 100847303 100847303 + Silent SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr14:100847303G>A c.42G>A c.(40-42)gcG>gcA p.A14A COADREAD 14 100847632 100847632 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr14:100847632C>T c.371C>T c.(370-372)gCc>gTc p.A124V COADREAD 14 100847678 100847678 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:100847678C>A c.417C>A c.(415-417)ctC>ctA p.L139L COADREAD 14 100847786 100847786 + Silent SNP C C A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr14:100847786C>A c.525C>A c.(523-525)ccC>ccA p.P175P COADREAD 14 100847916 100847916 + Missense_Mutation SNP G G C TCGA-A6-2683-01A-01W-0831-10 TCGA-A6-2683-10A-01W-0831-10 g.chr14:100847916G>C c.655G>C c.(655-657)Gag>Cag p.E219Q COADREAD 14 100848014 100848014 + Silent SNP C C T TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chr14:100848014C>T c.753C>T c.(751-753)acC>acT p.T251T COADREAD 14 100934417 100934417 + Silent SNP A A C TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr14:100934417A>C c.882A>C c.(880-882)gcA>gcC p.A294A COADREAD 14 100934477 100934477 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:100934477C>T c.942C>T c.(940-942)ttC>ttT p.F314F COADREAD 14 100950404 100950404 + Silent SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:100950404C>A c.1044C>A c.(1042-1044)atC>atA p.I348I COADREAD 14 100992369 100992370 + Frame_Shift_Ins INS - - T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr14:100992369_100992370insT c.1264_1265insT c.(1264-1266)attfs p.I422fs DLBC 14 100996337 100996337 + Missense_Mutation SNP G G A TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr14:100996337G>A c.1594G>A c.(1594-1596)Gcc>Acc p.A532T GBMLGG 14 100934452 100934452 + Missense_Mutation SNP G G A TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 g.chr14:100934452G>A c.917G>A c.(916-918)cGc>cAc p.R306H HNSC 14 100847552 100847552 + Missense_Mutation SNP G G C TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr14:100847552G>C c.291G>C c.(289-291)caG>caC p.Q97H HNSC 14 100934422 100934422 + Missense_Mutation SNP G G C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 g.chr14:100934422G>C c.887G>C c.(886-888)cGg>cCg p.R296P HNSC 14 100995422 100995422 + Silent SNP C C T TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 g.chr14:100995422C>T c.1290C>T c.(1288-1290)ccC>ccT p.P430P KIPAN 14 100847481 100847481 + Frame_Shift_Del DEL G G - TCGA-CZ-4856-01A-02D-1429-08 TCGA-CZ-4856-11A-01D-1429-08 g.chr14:100847481delG c.220delG c.(220-222)gggfs p.G75fs KIPAN 14 100847489 100847489 + Nonsense_Mutation SNP T T A TCGA-B0-5119-01A-02D-1421-08 TCGA-B0-5119-11A-01D-1421-08 g.chr14:100847489T>A c.228T>A c.(226-228)taT>taA p.Y76* KIPAN 14 100847806 100847806 + Missense_Mutation SNP G G T TCGA-UZ-A9PV-01A-11D-A42J-10 TCGA-UZ-A9PV-10A-01D-A42M-10 g.chr14:100847806G>T c.545G>T c.(544-546)aGa>aTa p.R182I KIPAN 14 100934461 100934461 + Missense_Mutation SNP G G A TCGA-B0-5703-01A-11D-1534-10 TCGA-B0-5703-11A-01D-1534-10 g.chr14:100934461G>A c.926G>A c.(925-927)aGt>aAt p.S309N KIPAN 14 100996202 100996202 + Missense_Mutation SNP T T A TCGA-5P-A9K2-01A-11D-A42J-10 TCGA-5P-A9K2-10A-01D-A42M-10 g.chr14:100996202T>A c.1459T>A c.(1459-1461)Ttg>Atg p.L487M KIPAN 14 100996232 100996232 + Missense_Mutation SNP G G T TCGA-B0-5694-01A-11D-1534-10 TCGA-B0-5694-11A-01D-1534-10 g.chr14:100996232G>T c.1489G>T c.(1489-1491)Gtc>Ttc p.V497F KIRC 14 100847481 100847481 + Frame_Shift_Del DEL G G - TCGA-CZ-4856-01A-02D-1429-08 TCGA-CZ-4856-11A-01D-1429-08 g.chr14:100847481delG c.220delG c.(220-222)gggfs p.G75fs KIRC 14 100847489 100847489 + Nonsense_Mutation SNP T T A TCGA-B0-5119-01A-02D-1421-08 TCGA-B0-5119-11A-01D-1421-08 g.chr14:100847489T>A c.228T>A c.(226-228)taT>taA p.Y76* KIRC 14 100934461 100934461 + Missense_Mutation SNP G G A TCGA-B0-5703-01A-11D-1534-10 TCGA-B0-5703-11A-01D-1534-10 g.chr14:100934461G>A c.926G>A c.(925-927)aGt>aAt p.S309N KIRC 14 100996232 100996232 + Missense_Mutation SNP G G T TCGA-B0-5694-01A-11D-1534-10 TCGA-B0-5694-11A-01D-1534-10 g.chr14:100996232G>T c.1489G>T c.(1489-1491)Gtc>Ttc p.V497F KIRP 14 100847806 100847806 + Missense_Mutation SNP G G T TCGA-UZ-A9PV-01A-11D-A42J-10 TCGA-UZ-A9PV-10A-01D-A42M-10 g.chr14:100847806G>T c.545G>T c.(544-546)aGa>aTa p.R182I KIRP 14 100996202 100996202 + Missense_Mutation SNP T T A TCGA-5P-A9K2-01A-11D-A42J-10 TCGA-5P-A9K2-10A-01D-A42M-10 g.chr14:100996202T>A c.1459T>A c.(1459-1461)Ttg>Atg p.L487M LGG 14 100934452 100934452 + Missense_Mutation SNP G G A TCGA-KT-A74X-01A-11D-A32B-08 TCGA-KT-A74X-10A-01D-A329-08 g.chr14:100934452G>A c.917G>A c.(916-918)cGc>cAc p.R306H LIHC 14 100995511 100995511 + Missense_Mutation SNP G G A TCGA-DD-AACW-01A-11D-A40R-10 TCGA-DD-AACW-10A-01D-A40U-10 g.chr14:100995511G>A c.1379G>A c.(1378-1380)cGg>cAg p.R460Q LUAD 14 100847475 100847475 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 g.chr14:100847475G>A c.214G>A c.(214-216)Gac>Aac p.D72N LUAD 14 100847837 100847837 + Silent SNP C C T TCGA-50-5936-01A-11D-1625-08 TCGA-50-5936-11A-01D-1625-08 g.chr14:100847837C>T c.576C>T c.(574-576)ggC>ggT p.G192G LUAD 14 100934399 100934399 + Silent SNP C C T TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chr14:100934399C>T c.864C>T c.(862-864)taC>taT p.Y288Y LUAD 14 100934431 100934431 + Missense_Mutation SNP G G T TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 g.chr14:100934431G>T c.896G>T c.(895-897)cGg>cTg p.R299L LUAD 14 100934506 100934507 + Splice_Site INS - - T TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr14:100934506_100934507insT c.e3+1 LUAD 14 100996231 100996231 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 g.chr14:100996231G>T c.1488G>T c.(1486-1488)cgG>cgT p.R496R LUAD 14 100996353 100996353 + Missense_Mutation SNP G G T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr14:100996353G>T c.1610G>T c.(1609-1611)gGa>gTa p.G537V LUSC 14 100847918 100847918 + Missense_Mutation SNP G G T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr14:100847918G>T c.657G>T c.(655-657)gaG>gaT p.E219D LUSC 14 100950396 100950396 + Missense_Mutation SNP C C T TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 g.chr14:100950396C>T c.1036C>T c.(1036-1038)Cac>Tac p.H346Y PAAD 14 100847746 100847746 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:100847746G>A c.485G>A c.(484-486)aGc>aAc p.S162N PAAD 14 100847801 100847801 + Silent SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:100847801A>G c.540A>G c.(538-540)agA>agG p.R180R PRAD 14 100950458 100950458 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:100950458C>T c.1098C>T c.(1096-1098)ggC>ggT p.G366G PRAD 14 100992319 100992319 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr14:100992319G>A c.1214G>A c.(1213-1215)cGc>cAc p.R405H READ 14 100847303 100847303 + Silent SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr14:100847303G>A c.42G>A c.(40-42)gcG>gcA p.A14A READ 14 100847678 100847678 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:100847678C>A c.417C>A c.(415-417)ctC>ctA p.L139L READ 14 100848014 100848014 + Silent SNP C C T TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chr14:100848014C>T c.753C>T c.(751-753)acC>acT p.T251T SKCM 14 100847882 100847882 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:100847882C>T c.621C>T c.(619-621)gcC>gcT p.A207A SKCM 14 100847981 100847981 + Silent SNP C C T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr14:100847981C>T c.720C>T c.(718-720)ttC>ttT p.F240F SKCM 14 100934401 100934401 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr14:100934401C>T c.866C>T c.(865-867)tCc>tTc p.S289F SKCM 14 100934432 100934432 + Silent SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chr14:100934432G>A c.897G>A c.(895-897)cgG>cgA p.R299R SKCM 14 100934477 100934477 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr14:100934477C>T c.942C>T c.(940-942)ttC>ttT p.F314F SKCM 14 100950384 100950384 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:100950384C>T c.1024C>T c.(1024-1026)Cat>Tat p.H342Y SKCM 14 100992260 100992260 + Silent SNP C C T TCGA-FS-A1ZF-06A-12D-A197-08 TCGA-FS-A1ZF-10A-01D-A199-08 g.chr14:100992260C>T c.1155C>T c.(1153-1155)ctC>ctT p.L385L SKCM 14 100992261 100992261 + Missense_Mutation SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr14:100992261C>T c.1156C>T c.(1156-1158)Cgg>Tgg p.R386W SKCM 14 100992261 100992261 + Missense_Mutation SNP C C T TCGA-FS-A1ZF-06A-12D-A197-08 TCGA-FS-A1ZF-10A-01D-A199-08 g.chr14:100992261C>T c.1156C>T c.(1156-1158)Cgg>Tgg p.R386W SKCM 14 100992375 100992375 + Missense_Mutation SNP C C T TCGA-FR-A69P-06A-21D-A30X-08 TCGA-FR-A69P-10A-01D-A30X-08 g.chr14:100992375C>T c.1270C>T c.(1270-1272)Cac>Tac p.H424Y SKCM 14 100995455 100995455 + Silent SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr14:100995455C>T c.1323C>T c.(1321-1323)ttC>ttT p.F441F SKCM 14 100996263 100996263 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr14:100996263G>A c.1520G>A c.(1519-1521)cGa>cAa p.R507Q SKCM 14 100996330 100996330 + Silent SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr14:100996330C>T c.1587C>T c.(1585-1587)tcC>tcT p.S529S SKCM 14 100996347 100996347 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr14:100996347C>T c.1604C>T c.(1603-1605)tCc>tTc p.S535F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 14 100996098 100996098 single base substitution G A downstream_gene_variant BOCA-FR 14 100996098 100996098 single base substitution G A intron_variant BRCA-EU 14 100838911 100838911 single base substitution C T upstream_gene_variant BRCA-EU 14 100838974 100838974 single base substitution T C upstream_gene_variant BRCA-EU 14 100841788 100841788 single base substitution C T upstream_gene_variant BRCA-EU 14 100842117 100842119 deletion of <=200bp AGG - upstream_gene_variant BRCA-EU 14 100842347 100842347 single base substitution A G upstream_gene_variant BRCA-EU 14 100844580 100844580 single base substitution C T intron_variant BRCA-EU 14 100844580 100844580 single base substitution C T upstream_gene_variant BRCA-EU 14 100849205 100849205 single base substitution A G intron_variant BRCA-EU 14 100850475 100850475 single base substitution C T intron_variant BRCA-EU 14 100851591 100851591 single base substitution A T intron_variant BRCA-EU 14 100851842 100851842 single base substitution A G intron_variant BRCA-EU 14 100852249 100852249 single base substitution G C intron_variant BRCA-EU 14 100852370 100852370 single base substitution G T intron_variant BRCA-EU 14 100853092 100853092 single base substitution C T intron_variant BRCA-EU 14 100853518 100853518 single base substitution A G intron_variant BRCA-EU 14 100853693 100853693 single base substitution A G intron_variant BRCA-EU 14 100854105 100854105 single base substitution C T intron_variant BRCA-EU 14 100855417 100855417 single base substitution T A intron_variant BRCA-EU 14 100855774 100855774 single base substitution C T intron_variant BRCA-EU 14 100857407 100857407 deletion of <=200bp C - intron_variant BRCA-EU 14 100857452 100857452 deletion of <=200bp T - intron_variant BRCA-EU 14 100859364 100859364 single base substitution A C intron_variant BRCA-EU 14 100859756 100859756 single base substitution C T intron_variant BRCA-EU 14 100860444 100860444 single base substitution G A intron_variant BRCA-EU 14 100860884 100860891 deletion of <=200bp GGCCCTGG - intron_variant BRCA-EU 14 100862592 100862592 single base substitution C T intron_variant BRCA-EU 14 100862781 100862781 single base substitution C G intron_variant BRCA-EU 14 100863318 100863318 single base substitution C G intron_variant BRCA-EU 14 100867533 100867533 single base substitution G A intron_variant BRCA-EU 14 100867662 100867665 deletion of <=200bp TTAG - intron_variant BRCA-EU 14 100867701 100867701 single base substitution G A intron_variant BRCA-EU 14 100868637 100868637 single base substitution G A intron_variant BRCA-EU 14 100869690 100869690 single base substitution C T intron_variant BRCA-EU 14 100870176 100870176 single base substitution C T intron_variant BRCA-EU 14 100872724 100872724 single base substitution G A intron_variant BRCA-EU 14 100874494 100874494 single base substitution G C intron_variant BRCA-EU 14 100875487 100875487 single base substitution C T intron_variant BRCA-EU 14 100875571 100875571 single base substitution C G intron_variant BRCA-EU 14 100877566 100877566 single base substitution C T intron_variant BRCA-EU 14 100879858 100879858 single base substitution C T intron_variant BRCA-EU 14 100880001 100880001 single base substitution C T intron_variant BRCA-EU 14 100881290 100881290 single base substitution A G intron_variant BRCA-EU 14 100882680 100882680 single base substitution C T intron_variant BRCA-EU 14 100884108 100884108 single base substitution C T intron_variant BRCA-EU 14 100885103 100885103 single base substitution C T intron_variant BRCA-EU 14 100886029 100886030 deletion of <=200bp AA - intron_variant BRCA-EU 14 100890306 100890306 single base substitution C T intron_variant BRCA-EU 14 100890532 100890532 single base substitution G C intron_variant BRCA-EU 14 100890772 100890772 single base substitution C G intron_variant BRCA-EU 14 100890818 100890818 single base substitution C G intron_variant BRCA-EU 14 100891030 100891030 single base substitution C T intron_variant BRCA-EU 14 100891334 100891334 single base substitution G A intron_variant BRCA-EU 14 100892302 100892302 single base substitution T A intron_variant BRCA-EU 14 100895307 100895307 single base substitution C A intron_variant BRCA-EU 14 100900001 100900001 deletion of <=200bp C - intron_variant BRCA-EU 14 100904662 100904662 single base substitution C T intron_variant BRCA-EU 14 100904721 100904721 single base substitution C T intron_variant BRCA-EU 14 100905110 100905110 single base substitution C T intron_variant BRCA-EU 14 100905555 100905555 single base substitution G A intron_variant BRCA-EU 14 100908238 100908238 single base substitution G T intron_variant BRCA-EU 14 100908579 100908579 single base substitution G A intron_variant BRCA-EU 14 100910703 100910703 single base substitution G C intron_variant BRCA-EU 14 100912022 100912022 single base substitution C T intron_variant BRCA-EU 14 100912161 100912161 single base substitution C T intron_variant BRCA-EU 14 100913598 100913598 single base substitution G C intron_variant BRCA-EU 14 100917561 100917561 single base substitution G A intron_variant BRCA-EU 14 100919200 100919200 single base substitution G C intron_variant BRCA-EU 14 100920139 100920139 single base substitution C T intron_variant BRCA-EU 14 100922221 100922221 single base substitution C T downstream_gene_variant BRCA-EU 14 100922221 100922221 single base substitution C T intron_variant BRCA-EU 14 100922303 100922303 single base substitution C T downstream_gene_variant BRCA-EU 14 100922303 100922303 single base substitution C T intron_variant BRCA-EU 14 100922661 100922661 single base substitution C T downstream_gene_variant BRCA-EU 14 100922661 100922661 single base substitution C T intron_variant BRCA-EU 14 100922742 100922742 single base substitution G A downstream_gene_variant BRCA-EU 14 100922742 100922742 single base substitution G A intron_variant BRCA-EU 14 100923530 100923530 single base substitution G A downstream_gene_variant BRCA-EU 14 100923530 100923530 single base substitution G A intron_variant BRCA-EU 14 100923854 100923854 single base substitution C T downstream_gene_variant BRCA-EU 14 100923854 100923854 single base substitution C T intron_variant BRCA-EU 14 100924258 100924258 single base substitution G T downstream_gene_variant BRCA-EU 14 100924258 100924258 single base substitution G T intron_variant BRCA-EU 14 100924725 100924725 single base substitution A G downstream_gene_variant BRCA-EU 14 100924725 100924725 single base substitution A G intron_variant BRCA-EU 14 100926987 100926987 deletion of <=200bp A - intron_variant BRCA-EU 14 100927053 100927053 insertion of <=200bp - A intron_variant BRCA-EU 14 100928358 100928358 single base substitution C A intron_variant BRCA-EU 14 100929756 100929756 single base substitution T C intron_variant BRCA-EU 14 100930304 100930304 single base substitution C G intron_variant BRCA-EU 14 100931149 100931149 single base substitution C T intron_variant BRCA-EU 14 100931474 100931474 single base substitution G A intron_variant BRCA-EU 14 100932484 100932484 single base substitution T A intron_variant BRCA-EU 14 100933124 100933124 single base substitution G A intron_variant BRCA-EU 14 100937132 100937132 single base substitution C T intron_variant BRCA-EU 14 100937247 100937247 single base substitution C G intron_variant BRCA-EU 14 100937873 100937873 single base substitution C T intron_variant BRCA-EU 14 100937873 100937873 single base substitution C T upstream_gene_variant BRCA-EU 14 100939020 100939020 single base substitution C T intron_variant BRCA-EU 14 100939020 100939020 single base substitution C T upstream_gene_variant BRCA-EU 14 100939821 100939821 single base substitution G A intron_variant BRCA-EU 14 100939821 100939821 single base substitution G A upstream_gene_variant BRCA-EU 14 100940911 100940911 single base substitution G T intron_variant BRCA-EU 14 100940911 100940911 single base substitution G T upstream_gene_variant BRCA-EU 14 100942574 100942574 single base substitution C G intron_variant BRCA-EU 14 100942574 100942574 single base substitution C G upstream_gene_variant BRCA-EU 14 100943541 100943541 deletion of <=200bp G - intron_variant BRCA-EU 14 100944881 100944881 deletion of <=200bp A - intron_variant BRCA-EU 14 100946691 100946691 single base substitution A T intron_variant BRCA-EU 14 100947171 100947171 single base substitution T C intron_variant BRCA-EU 14 100950254 100950254 single base substitution G T intron_variant BRCA-EU 14 100950619 100950619 single base substitution G C intron_variant BRCA-EU 14 100951438 100951438 single base substitution A G intron_variant BRCA-EU 14 100951899 100951899 single base substitution G A intron_variant BRCA-EU 14 100953022 100953022 single base substitution G C intron_variant BRCA-EU 14 100953321 100953321 deletion of <=200bp T - intron_variant BRCA-EU 14 100957310 100957310 single base substitution G A intron_variant BRCA-EU 14 100957508 100957508 single base substitution C G intron_variant BRCA-EU 14 100957756 100957756 single base substitution C T intron_variant BRCA-EU 14 100959227 100959227 single base substitution C A intron_variant BRCA-EU 14 100960597 100960597 single base substitution A T intron_variant BRCA-EU 14 100961441 100961441 single base substitution C T intron_variant BRCA-EU 14 100962488 100962488 single base substitution G C intron_variant BRCA-EU 14 100962818 100962818 single base substitution C G intron_variant BRCA-EU 14 100963043 100963043 single base substitution C G intron_variant BRCA-EU 14 100965171 100965171 single base substitution C G intron_variant BRCA-EU 14 100965171 100965171 single base substitution C G upstream_gene_variant BRCA-EU 14 100965723 100965723 single base substitution C T intron_variant BRCA-EU 14 100965723 100965723 single base substitution C T upstream_gene_variant BRCA-EU 14 100966125 100966125 single base substitution G C intron_variant BRCA-EU 14 100966125 100966125 single base substitution G C upstream_gene_variant BRCA-EU 14 100966910 100966910 single base substitution C T intron_variant BRCA-EU 14 100966910 100966910 single base substitution C T upstream_gene_variant BRCA-EU 14 100967075 100967075 single base substitution G T intron_variant BRCA-EU 14 100967075 100967075 single base substitution G T upstream_gene_variant BRCA-EU 14 100967820 100967820 single base substitution G C intron_variant BRCA-EU 14 100967820 100967820 single base substitution G C upstream_gene_variant BRCA-EU 14 100967871 100967871 single base substitution C T intron_variant BRCA-EU 14 100967871 100967871 single base substitution C T upstream_gene_variant BRCA-EU 14 100969530 100969530 single base substitution G T intron_variant BRCA-EU 14 100969530 100969530 single base substitution G T upstream_gene_variant BRCA-EU 14 100969947 100969947 single base substitution C G intron_variant BRCA-EU 14 100969947 100969947 single base substitution C G upstream_gene_variant BRCA-EU 14 100970038 100970038 single base substitution C T exon_variant BRCA-EU 14 100970038 100970038 single base substitution C T intron_variant BRCA-EU 14 100972139 100972139 single base substitution C T intron_variant BRCA-EU 14 100974009 100974009 single base substitution T C intron_variant BRCA-EU 14 100977398 100977398 deletion of <=200bp A - intron_variant BRCA-EU 14 100977398 100977398 insertion of <=200bp - A intron_variant BRCA-EU 14 100978046 100978046 single base substitution C G intron_variant BRCA-EU 14 100978407 100978407 single base substitution T C intron_variant BRCA-EU 14 100979937 100979937 single base substitution T G intron_variant BRCA-EU 14 100980010 100980010 single base substitution C G intron_variant BRCA-EU 14 100980334 100980334 single base substitution G A intron_variant BRCA-EU 14 100980564 100980564 single base substitution C T intron_variant BRCA-EU 14 100980685 100980685 single base substitution C T intron_variant BRCA-EU 14 100981103 100981103 single base substitution G C intron_variant BRCA-EU 14 100983528 100983528 single base substitution C T intron_variant BRCA-EU 14 100984611 100984611 single base substitution A G intron_variant BRCA-EU 14 100985809 100985809 single base substitution C G intron_variant BRCA-EU 14 100986934 100986934 single base substitution G A intron_variant BRCA-EU 14 100988427 100988427 insertion of <=200bp - T intron_variant BRCA-EU 14 100988427 100988427 insertion of <=200bp - T upstream_gene_variant BRCA-EU 14 100989612 100989612 single base substitution C G intron_variant BRCA-EU 14 100989612 100989612 single base substitution C G upstream_gene_variant BRCA-EU 14 100992276 100992276 single base substitution T A 3_prime_UTR_variant BRCA-EU 14 100992276 100992276 single base substitution T A downstream_gene_variant BRCA-EU 14 100992276 100992276 single base substitution T A exon_variant BRCA-EU 14 100992276 100992276 single base substitution T A missense_variant F134I 400T>A BRCA-EU 14 100992276 100992276 single base substitution T A missense_variant F391I 1171T>A BRCA-EU 14 100992276 100992276 single base substitution T A upstream_gene_variant BRCA-EU 14 100992294 100992294 single base substitution G A 3_prime_UTR_variant BRCA-EU 14 100992294 100992294 single base substitution G A downstream_gene_variant BRCA-EU 14 100992294 100992294 single base substitution G A exon_variant BRCA-EU 14 100992294 100992294 single base substitution G A missense_variant A140T 418G>A BRCA-EU 14 100992294 100992294 single base substitution G A missense_variant A397T 1189G>A BRCA-EU 14 100992294 100992294 single base substitution G A missense_variant A4T 10G>A BRCA-EU 14 100993829 100993829 single base substitution C T downstream_gene_variant BRCA-EU 14 100993829 100993829 single base substitution C T intron_variant BRCA-EU 14 100995565 100995565 single base substitution C A downstream_gene_variant BRCA-EU 14 100995565 100995565 single base substitution C A intron_variant BRCA-EU 14 100995565 100995565 single base substitution C A missense_variant P85H 254C>A BRCA-EU 14 100996487 100996487 single base substitution C T 3_prime_UTR_variant BRCA-EU 14 100996487 100996487 single base substitution C T downstream_gene_variant BRCA-EU 14 100997315 100997315 single base substitution A G downstream_gene_variant BRCA-EU 14 100997742 100997742 single base substitution G T downstream_gene_variant BRCA-EU 14 100998918 100998918 single base substitution C T downstream_gene_variant BRCA-EU 14 100999989 100999989 single base substitution G C downstream_gene_variant BRCA-EU 14 101000275 101000275 single base substitution G C downstream_gene_variant BRCA-EU 14 101000403 101000403 single base substitution G A downstream_gene_variant BRCA-EU 14 101000735 101000735 single base substitution C A downstream_gene_variant BRCA-EU 14 101001616 101001616 single base substitution G C downstream_gene_variant BRCA-FR 14 100859756 100859756 single base substitution C T intron_variant BRCA-FR 14 100863318 100863318 single base substitution C G intron_variant BRCA-FR 14 100870176 100870176 single base substitution C T intron_variant BRCA-FR 14 100877566 100877566 single base substitution C T intron_variant BRCA-FR 14 100885579 100885579 single base substitution T A intron_variant BRCA-FR 14 100886348 100886348 single base substitution C T intron_variant BRCA-FR 14 100904662 100904662 single base substitution C T intron_variant BRCA-FR 14 100905110 100905110 single base substitution C T intron_variant BRCA-FR 14 100905555 100905555 single base substitution G A intron_variant BRCA-FR 14 100918386 100918386 single base substitution C T intron_variant BRCA-FR 14 100922303 100922303 single base substitution C T downstream_gene_variant BRCA-FR 14 100922303 100922303 single base substitution C T intron_variant BRCA-FR 14 100922742 100922742 single base substitution G A downstream_gene_variant BRCA-FR 14 100922742 100922742 single base substitution G A intron_variant BRCA-FR 14 100928724 100928724 single base substitution G A intron_variant BRCA-FR 14 100930304 100930304 single base substitution C G intron_variant BRCA-FR 14 100939821 100939821 single base substitution G A intron_variant BRCA-FR 14 100939821 100939821 single base substitution G A upstream_gene_variant BRCA-FR 14 100940911 100940911 single base substitution G T intron_variant BRCA-FR 14 100940911 100940911 single base substitution G T upstream_gene_variant BRCA-FR 14 100944730 100944730 single base substitution G C intron_variant BRCA-FR 14 100950427 100950427 single base substitution C G 3_prime_UTR_variant BRCA-FR 14 100950427 100950427 single base substitution C G exon_variant BRCA-FR 14 100950427 100950427 single base substitution C G missense_variant S356C 1067C>G BRCA-FR 14 100950427 100950427 single base substitution C G missense_variant S99C 296C>G BRCA-FR 14 100956839 100956839 single base substitution A G intron_variant BRCA-FR 14 100967820 100967820 single base substitution G C intron_variant BRCA-FR 14 100967820 100967820 single base substitution G C upstream_gene_variant BRCA-FR 14 100985163 100985163 single base substitution G A intron_variant BRCA-FR 14 100988085 100988085 single base substitution C T intron_variant BRCA-FR 14 100988085 100988085 single base substitution C T upstream_gene_variant BRCA-FR 14 100997742 100997742 single base substitution G T downstream_gene_variant BRCA-FR 14 100999989 100999989 single base substitution G C downstream_gene_variant BRCA-FR 14 101000403 101000403 single base substitution G A downstream_gene_variant BRCA-KR 14 100996251 100996251 single base substitution G A 3_prime_UTR_variant BRCA-KR 14 100996251 100996251 single base substitution G A downstream_gene_variant BRCA-KR 14 100996251 100996251 single base substitution G A exon_variant BRCA-KR 14 100996251 100996251 single base substitution G A missense_variant R246H 737G>A BRCA-KR 14 100996251 100996251 single base substitution G A missense_variant R503H 1508G>A BRCA-UK 14 100859072 100859072 single base substitution C T intron_variant BRCA-UK 14 100880375 100880375 single base substitution C T intron_variant BRCA-UK 14 100892019 100892019 single base substitution C T intron_variant BRCA-UK 14 100917406 100917406 single base substitution G C intron_variant BRCA-UK 14 100950254 100950254 single base substitution G T intron_variant BRCA-UK 14 100963780 100963780 single base substitution C G intron_variant BRCA-UK 14 100964028 100964028 single base substitution C G intron_variant BRCA-UK 14 100970038 100970038 single base substitution C T exon_variant BRCA-UK 14 100970038 100970038 single base substitution C T intron_variant BRCA-UK 14 100992276 100992276 single base substitution T A 3_prime_UTR_variant BRCA-UK 14 100992276 100992276 single base substitution T A downstream_gene_variant BRCA-UK 14 100992276 100992276 single base substitution T A exon_variant BRCA-UK 14 100992276 100992276 single base substitution T A missense_variant F134I 400T>A BRCA-UK 14 100992276 100992276 single base substitution T A missense_variant F391I 1171T>A BRCA-UK 14 100992276 100992276 single base substitution T A upstream_gene_variant BRCA-US 14 100847475 100847475 single base substitution G A exon_variant BRCA-US 14 100847475 100847475 single base substitution G A intron_variant BRCA-US 14 100847475 100847475 single base substitution G A missense_variant D72N 214G>A BRCA-US 14 100847475 100847475 single base substitution G A upstream_gene_variant BRCA-US 14 100847946 100847946 single base substitution T C exon_variant BRCA-US 14 100847946 100847946 single base substitution T C intron_variant BRCA-US 14 100847946 100847946 single base substitution T C missense_variant Y229H 685T>C BRCA-US 14 100847946 100847946 single base substitution T C upstream_gene_variant BTCA-JP 14 100995428 100995428 single base substitution C T 3_prime_UTR_variant BTCA-JP 14 100995428 100995428 single base substitution C T downstream_gene_variant BTCA-JP 14 100995428 100995428 single base substitution C T exon_variant BTCA-JP 14 100995428 100995428 single base substitution C T synonymous_variant L175L 525C>T BTCA-JP 14 100995428 100995428 single base substitution C T synonymous_variant L39L 117C>T BTCA-JP 14 100995428 100995428 single base substitution C T synonymous_variant L432L 1296C>T BTCA-JP 14 100995511 100995511 single base substitution G A 3_prime_UTR_variant BTCA-JP 14 100995511 100995511 single base substitution G A downstream_gene_variant BTCA-JP 14 100995511 100995511 single base substitution G A exon_variant BTCA-JP 14 100995511 100995511 single base substitution G A missense_variant R203Q 608G>A BTCA-JP 14 100995511 100995511 single base substitution G A missense_variant R460Q 1379G>A BTCA-JP 14 100995511 100995511 single base substitution G A missense_variant R67Q 200G>A CLLE-ES 14 100873359 100873359 single base substitution G A intron_variant CLLE-ES 14 100878072 100878072 single base substitution C T intron_variant CLLE-ES 14 100931112 100931112 single base substitution C T intron_variant CLLE-ES 14 100943004 100943004 single base substitution C G intron_variant CLLE-ES 14 100952695 100952695 single base substitution G A intron_variant CLLE-ES 14 100981198 100981198 single base substitution A G intron_variant CLLE-ES 14 100982194 100982194 single base substitution T C intron_variant COAD-US 14 100847632 100847632 single base substitution C T exon_variant COAD-US 14 100847632 100847632 single base substitution C T intron_variant COAD-US 14 100847632 100847632 single base substitution C T missense_variant A124V 371C>T COAD-US 14 100847632 100847632 single base substitution C T upstream_gene_variant COAD-US 14 100934417 100934417 single base substitution A C exon_variant COAD-US 14 100934417 100934417 single base substitution A C intron_variant COAD-US 14 100934417 100934417 single base substitution A C synonymous_variant A294A 882A>C COAD-US 14 100934417 100934417 single base substitution A C synonymous_variant A37A 111A>C COAD-US 14 100934421 100934421 single base substitution C T exon_variant COAD-US 14 100934421 100934421 single base substitution C T intron_variant COAD-US 14 100934421 100934421 single base substitution C T missense_variant R296W 886C>T COAD-US 14 100934421 100934421 single base substitution C T missense_variant R39W 115C>T COAD-US 14 100934477 100934477 single base substitution C T exon_variant COAD-US 14 100934477 100934477 single base substitution C T intron_variant COAD-US 14 100934477 100934477 single base substitution C T synonymous_variant F314F 942C>T COAD-US 14 100934477 100934477 single base substitution C T synonymous_variant F57F 171C>T COAD-US 14 100950404 100950404 single base substitution C A 3_prime_UTR_variant COAD-US 14 100950404 100950404 single base substitution C A exon_variant COAD-US 14 100950404 100950404 single base substitution C A synonymous_variant I348I 1044C>A COAD-US 14 100950404 100950404 single base substitution C A synonymous_variant I91I 273C>A COAD-US 14 100992369 100992369 insertion of <=200bp - T 3_prime_UTR_variant COAD-US 14 100992369 100992369 insertion of <=200bp - T downstream_gene_variant COAD-US 14 100992369 100992369 insertion of <=200bp - T exon_variant COAD-US 14 100992369 100992369 insertion of <=200bp - T frameshift_variant I165Y? COAD-US 14 100992369 100992369 insertion of <=200bp - T frameshift_variant I29Y? COAD-US 14 100992369 100992369 insertion of <=200bp - T frameshift_variant I422Y? COAD-US 14 100996312 100996312 single base substitution T C 3_prime_UTR_variant COAD-US 14 100996312 100996312 single base substitution T C downstream_gene_variant COAD-US 14 100996312 100996312 single base substitution T C exon_variant COAD-US 14 100996312 100996312 single base substitution T C synonymous_variant Y266Y 798T>C COAD-US 14 100996312 100996312 single base substitution T C synonymous_variant Y523Y 1569T>C COCA-CN 14 100847627 100847627 single base substitution T C exon_variant COCA-CN 14 100847627 100847627 single base substitution T C intron_variant COCA-CN 14 100847627 100847627 single base substitution T C synonymous_variant V122V 366T>C COCA-CN 14 100847627 100847627 single base substitution T C upstream_gene_variant COCA-CN 14 100955042 100955042 single base substitution G T intron_variant COCA-CN 14 100993042 100993042 single base substitution T C downstream_gene_variant COCA-CN 14 100993042 100993042 single base substitution T C intron_variant COCA-CN 14 100995717 100995717 single base substitution A G 3_prime_UTR_variant COCA-CN 14 100995717 100995717 single base substitution A G downstream_gene_variant COCA-CN 14 100995717 100995717 single base substitution A G intron_variant EOPC-DE 14 100933628 100933628 single base substitution C T intron_variant ESAD-UK 14 100838592 100838592 single base substitution G A upstream_gene_variant ESAD-UK 14 100840445 100840445 single base substitution G T upstream_gene_variant ESAD-UK 14 100840594 100840594 single base substitution T C upstream_gene_variant ESAD-UK 14 100842801 100842801 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 14 100842801 100842801 single base substitution C T exon_variant ESAD-UK 14 100842801 100842801 single base substitution C T upstream_gene_variant ESAD-UK 14 100842854 100842854 single base substitution C T 5_prime_UTR_variant ESAD-UK 14 100842854 100842854 single base substitution C T exon_variant ESAD-UK 14 100842854 100842854 single base substitution C T intron_variant ESAD-UK 14 100842854 100842854 single base substitution C T upstream_gene_variant ESAD-UK 14 100843033 100843033 single base substitution C A 5_prime_UTR_variant ESAD-UK 14 100843033 100843033 single base substitution C A exon_variant ESAD-UK 14 100843033 100843033 single base substitution C A intron_variant ESAD-UK 14 100843033 100843033 single base substitution C A upstream_gene_variant ESAD-UK 14 100849728 100849728 single base substitution C G intron_variant ESAD-UK 14 100850532 100850532 single base substitution C T intron_variant ESAD-UK 14 100850991 100850991 single base substitution C A intron_variant ESAD-UK 14 100853970 100853970 single base substitution C A intron_variant ESAD-UK 14 100854135 100854135 single base substitution G A intron_variant ESAD-UK 14 100854529 100854529 single base substitution G A intron_variant ESAD-UK 14 100854625 100854625 single base substitution G C intron_variant ESAD-UK 14 100856390 100856390 insertion of <=200bp - T intron_variant ESAD-UK 14 100857718 100857718 single base substitution C T intron_variant ESAD-UK 14 100858527 100858527 single base substitution A G intron_variant ESAD-UK 14 100859027 100859027 single base substitution G A intron_variant ESAD-UK 14 100860501 100860501 single base substitution C T intron_variant ESAD-UK 14 100862549 100862549 single base substitution G T intron_variant ESAD-UK 14 100865178 100865178 single base substitution G A intron_variant ESAD-UK 14 100865693 100865693 single base substitution C T intron_variant ESAD-UK 14 100869611 100869611 single base substitution G C intron_variant ESAD-UK 14 100872038 100872038 single base substitution C T intron_variant ESAD-UK 14 100874409 100874409 single base substitution G A intron_variant ESAD-UK 14 100878877 100878877 single base substitution G A intron_variant ESAD-UK 14 100882611 100882611 single base substitution C T intron_variant ESAD-UK 14 100883678 100883678 single base substitution C T intron_variant ESAD-UK 14 100885041 100885041 single base substitution C T intron_variant ESAD-UK 14 100894508 100894508 single base substitution G A intron_variant ESAD-UK 14 100895290 100895290 single base substitution C T intron_variant ESAD-UK 14 100896859 100896859 single base substitution C T intron_variant ESAD-UK 14 100898801 100898801 single base substitution C T intron_variant ESAD-UK 14 100898972 100898972 single base substitution C A intron_variant ESAD-UK 14 100899939 100899939 single base substitution C T intron_variant ESAD-UK 14 100900693 100900693 single base substitution G T intron_variant ESAD-UK 14 100902592 100902592 single base substitution T C intron_variant ESAD-UK 14 100906875 100906875 single base substitution T G intron_variant ESAD-UK 14 100907835 100907835 single base substitution C A intron_variant ESAD-UK 14 100908649 100908649 single base substitution C T intron_variant ESAD-UK 14 100909906 100909906 single base substitution A G intron_variant ESAD-UK 14 100910174 100910174 single base substitution G T intron_variant ESAD-UK 14 100912221 100912221 single base substitution T C intron_variant ESAD-UK 14 100913305 100913305 single base substitution C T intron_variant ESAD-UK 14 100914320 100914320 single base substitution C T intron_variant ESAD-UK 14 100916219 100916219 single base substitution G A intron_variant ESAD-UK 14 100916992 100916992 single base substitution G T intron_variant ESAD-UK 14 100919954 100919954 single base substitution C T intron_variant ESAD-UK 14 100928268 100928268 single base substitution T G intron_variant ESAD-UK 14 100929403 100929403 single base substitution C T intron_variant ESAD-UK 14 100932004 100932004 single base substitution C T intron_variant ESAD-UK 14 100935058 100935058 single base substitution T A intron_variant ESAD-UK 14 100936121 100936121 single base substitution G A intron_variant ESAD-UK 14 100939110 100939110 single base substitution G A intron_variant ESAD-UK 14 100939110 100939110 single base substitution G A upstream_gene_variant ESAD-UK 14 100942223 100942223 insertion of <=200bp - AT intron_variant ESAD-UK 14 100942223 100942223 insertion of <=200bp - AT upstream_gene_variant ESAD-UK 14 100946550 100946550 single base substitution G A intron_variant ESAD-UK 14 100949098 100949098 single base substitution C T intron_variant ESAD-UK 14 100949137 100949137 single base substitution G T intron_variant ESAD-UK 14 100949180 100949180 single base substitution A C intron_variant ESAD-UK 14 100949217 100949217 single base substitution G A intron_variant ESAD-UK 14 100949702 100949702 single base substitution G A intron_variant ESAD-UK 14 100949895 100949895 single base substitution C A intron_variant ESAD-UK 14 100951801 100951801 single base substitution G T intron_variant ESAD-UK 14 100954865 100954865 single base substitution G T intron_variant ESAD-UK 14 100954880 100954880 single base substitution A T intron_variant ESAD-UK 14 100955772 100955772 single base substitution T C intron_variant ESAD-UK 14 100958877 100958877 single base substitution C G intron_variant ESAD-UK 14 100959423 100959423 single base substitution G A intron_variant ESAD-UK 14 100961526 100961526 single base substitution T A intron_variant ESAD-UK 14 100961636 100961636 single base substitution G A intron_variant ESAD-UK 14 100965643 100965643 single base substitution A G intron_variant ESAD-UK 14 100965643 100965643 single base substitution A G upstream_gene_variant ESAD-UK 14 100966129 100966129 single base substitution A C intron_variant ESAD-UK 14 100966129 100966129 single base substitution A C upstream_gene_variant ESAD-UK 14 100966683 100966683 single base substitution G A intron_variant ESAD-UK 14 100966683 100966683 single base substitution G A upstream_gene_variant ESAD-UK 14 100968388 100968388 single base substitution G A intron_variant ESAD-UK 14 100968388 100968388 single base substitution G A upstream_gene_variant ESAD-UK 14 100969067 100969067 single base substitution T C intron_variant ESAD-UK 14 100969067 100969067 single base substitution T C upstream_gene_variant ESAD-UK 14 100970595 100970595 single base substitution G T intron_variant ESAD-UK 14 100971120 100971120 single base substitution A T intron_variant ESAD-UK 14 100971525 100971525 single base substitution C T intron_variant ESAD-UK 14 100975238 100975238 deletion of <=200bp T - intron_variant ESAD-UK 14 100975367 100975367 single base substitution C T intron_variant ESAD-UK 14 100975814 100975814 single base substitution A T intron_variant ESAD-UK 14 100977029 100977029 single base substitution C T intron_variant ESAD-UK 14 100977646 100977646 single base substitution A T intron_variant ESAD-UK 14 100978344 100978344 single base substitution A C intron_variant ESAD-UK 14 100978498 100978498 single base substitution T G intron_variant ESAD-UK 14 100979735 100979735 single base substitution C T intron_variant ESAD-UK 14 100981283 100981283 single base substitution C A intron_variant ESAD-UK 14 100982222 100982222 single base substitution G T intron_variant ESAD-UK 14 100983475 100983475 single base substitution C T intron_variant ESAD-UK 14 100984051 100984051 single base substitution C T intron_variant ESAD-UK 14 100984857 100984857 single base substitution A C intron_variant ESAD-UK 14 100985186 100985186 single base substitution G A intron_variant ESAD-UK 14 100986052 100986060 deletion of <=200bp TATATATAC - intron_variant ESAD-UK 14 100986376 100986376 single base substitution C T intron_variant ESAD-UK 14 100989355 100989355 single base substitution T C intron_variant ESAD-UK 14 100989355 100989355 single base substitution T C upstream_gene_variant ESAD-UK 14 100989881 100989881 single base substitution G A intron_variant ESAD-UK 14 100989881 100989881 single base substitution G A upstream_gene_variant ESAD-UK 14 100993188 100993188 insertion of <=200bp - ACCACCATT downstream_gene_variant ESAD-UK 14 100993188 100993188 insertion of <=200bp - ACCACCATT intron_variant ESAD-UK 14 100996177 100996177 single base substitution C T 3_prime_UTR_variant ESAD-UK 14 100996177 100996177 single base substitution C T downstream_gene_variant ESAD-UK 14 100996177 100996177 single base substitution C T exon_variant ESAD-UK 14 100996177 100996177 single base substitution C T synonymous_variant G221G 663C>T ESAD-UK 14 100996177 100996177 single base substitution C T synonymous_variant G478G 1434C>T ESAD-UK 14 100996331 100996331 single base substitution G A 3_prime_UTR_variant ESAD-UK 14 100996331 100996331 single base substitution G A downstream_gene_variant ESAD-UK 14 100996331 100996331 single base substitution G A exon_variant ESAD-UK 14 100996331 100996331 single base substitution G A missense_variant V273I 817G>A ESAD-UK 14 100996331 100996331 single base substitution G A missense_variant V530I 1588G>A ESAD-UK 14 100999247 100999247 single base substitution G A downstream_gene_variant ESAD-UK 14 101000180 101000180 single base substitution C A downstream_gene_variant ESAD-UK 14 101000749 101000749 single base substitution C T downstream_gene_variant ESAD-UK 14 101000932 101000932 single base substitution C A downstream_gene_variant ESCA-CN 14 100847547 100847547 single base substitution C A exon_variant ESCA-CN 14 100847547 100847547 single base substitution C A intron_variant ESCA-CN 14 100847547 100847547 single base substitution C A missense_variant L96I 286C>A ESCA-CN 14 100847547 100847547 single base substitution C A upstream_gene_variant ESCA-CN 14 100847811 100847811 single base substitution C T exon_variant ESCA-CN 14 100847811 100847811 single base substitution C T intron_variant ESCA-CN 14 100847811 100847811 single base substitution C T missense_variant R184W 550C>T ESCA-CN 14 100847811 100847811 single base substitution C T upstream_gene_variant KIRC-US 14 100847481 100847481 deletion of <=200bp G - exon_variant KIRC-US 14 100847481 100847481 deletion of <=200bp G - frameshift_variant G74 KIRC-US 14 100847481 100847481 deletion of <=200bp G - intron_variant KIRC-US 14 100847481 100847481 deletion of <=200bp G - upstream_gene_variant KIRC-US 14 100847489 100847489 single base substitution T A exon_variant KIRC-US 14 100847489 100847489 single base substitution T A intron_variant KIRC-US 14 100847489 100847489 single base substitution T A stop_gained Y76* 228T>A KIRC-US 14 100847489 100847489 single base substitution T A upstream_gene_variant KIRC-US 14 100934461 100934461 single base substitution G A exon_variant KIRC-US 14 100934461 100934461 single base substitution G A intron_variant KIRC-US 14 100934461 100934461 single base substitution G A missense_variant S309N 926G>A KIRC-US 14 100934461 100934461 single base substitution G A missense_variant S52N 155G>A KIRC-US 14 100996232 100996232 single base substitution G T 3_prime_UTR_variant KIRC-US 14 100996232 100996232 single base substitution G T downstream_gene_variant KIRC-US 14 100996232 100996232 single base substitution G T exon_variant KIRC-US 14 100996232 100996232 single base substitution G T missense_variant V240F 718G>T KIRC-US 14 100996232 100996232 single base substitution G T missense_variant V497F 1489G>T LAML-KR 14 100847388 100847388 single base substitution G A exon_variant LAML-KR 14 100847388 100847388 single base substitution G A intron_variant LAML-KR 14 100847388 100847388 single base substitution G A missense_variant A43T 127G>A LAML-KR 14 100847388 100847388 single base substitution G A upstream_gene_variant LAML-KR 14 100847707 100847707 single base substitution A G exon_variant LAML-KR 14 100847707 100847707 single base substitution A G intron_variant LAML-KR 14 100847707 100847707 single base substitution A G missense_variant H149R 446A>G LAML-KR 14 100847707 100847707 single base substitution A G upstream_gene_variant LAML-KR 14 100947464 100947464 single base substitution A G intron_variant LAML-KR 14 100947465 100947465 single base substitution A G intron_variant LICA-FR 14 100843952 100843952 single base substitution A G intron_variant LICA-FR 14 100843952 100843952 single base substitution A G upstream_gene_variant LICA-FR 14 100847406 100847406 single base substitution G A exon_variant LICA-FR 14 100847406 100847406 single base substitution G A intron_variant LICA-FR 14 100847406 100847406 single base substitution G A missense_variant D49N 145G>A LICA-FR 14 100847406 100847406 single base substitution G A upstream_gene_variant LICA-FR 14 100877119 100877119 deletion of <=200bp T - intron_variant LICA-FR 14 100879589 100879589 single base substitution T G intron_variant LICA-FR 14 100879753 100879753 deletion of <=200bp T - intron_variant LICA-FR 14 100922750 100922750 single base substitution A G downstream_gene_variant LICA-FR 14 100922750 100922750 single base substitution A G intron_variant LICA-FR 14 100929619 100929619 single base substitution G C intron_variant LICA-FR 14 100947777 100947777 insertion of <=200bp - T intron_variant LICA-FR 14 100992215 100992215 single base substitution A T 3_prime_UTR_variant LICA-FR 14 100992215 100992215 single base substitution A T exon_variant LICA-FR 14 100992215 100992215 single base substitution A T missense_variant R113S 339A>T LICA-FR 14 100992215 100992215 single base substitution A T missense_variant R370S 1110A>T LICA-FR 14 100992215 100992215 single base substitution A T upstream_gene_variant LINC-JP 14 100846713 100846713 single base substitution T G intron_variant LINC-JP 14 100846713 100846713 single base substitution T G upstream_gene_variant LINC-JP 14 100847623 100847623 single base substitution A G exon_variant LINC-JP 14 100847623 100847623 single base substitution A G intron_variant LINC-JP 14 100847623 100847623 single base substitution A G missense_variant H121R 362A>G LINC-JP 14 100847623 100847623 single base substitution A G upstream_gene_variant LINC-JP 14 100847762 100847762 single base substitution A G exon_variant LINC-JP 14 100847762 100847762 single base substitution A G intron_variant LINC-JP 14 100847762 100847762 single base substitution A G synonymous_variant K167K 501A>G LINC-JP 14 100847762 100847762 single base substitution A G upstream_gene_variant LINC-JP 14 100855466 100855466 single base substitution A C intron_variant LINC-JP 14 100860539 100860539 single base substitution A G intron_variant LINC-JP 14 100880708 100880708 single base substitution G A intron_variant LINC-JP 14 100888789 100888789 single base substitution C T intron_variant LINC-JP 14 100902251 100902251 single base substitution C T intron_variant LINC-JP 14 100907377 100907377 single base substitution T C intron_variant LINC-JP 14 100934530 100934530 single base substitution G A intron_variant LINC-JP 14 100943901 100943901 insertion of <=200bp - AGGATATGATA intron_variant LINC-JP 14 100945328 100945328 single base substitution C T intron_variant LINC-JP 14 100947792 100947792 single base substitution A T intron_variant LINC-JP 14 100964670 100964670 single base substitution G A intron_variant LINC-JP 14 100966568 100966568 single base substitution G A intron_variant LINC-JP 14 100966568 100966568 single base substitution G A upstream_gene_variant LINC-JP 14 100968321 100968321 single base substitution G C intron_variant LINC-JP 14 100968321 100968321 single base substitution G C upstream_gene_variant LINC-JP 14 100974320 100974320 single base substitution C A intron_variant LINC-JP 14 100975015 100975015 single base substitution T C intron_variant LINC-JP 14 100993570 100993570 single base substitution T G downstream_gene_variant LINC-JP 14 100993570 100993570 single base substitution T G intron_variant LINC-JP 14 100993699 100993699 single base substitution G A downstream_gene_variant LINC-JP 14 100993699 100993699 single base substitution G A intron_variant LIRI-JP 14 100840577 100840577 single base substitution T A upstream_gene_variant LIRI-JP 14 100842637 100842637 single base substitution C T upstream_gene_variant LIRI-JP 14 100842915 100842916 deletion of <=200bp TC - 5_prime_UTR_variant LIRI-JP 14 100842915 100842916 deletion of <=200bp TC - exon_variant LIRI-JP 14 100842915 100842916 deletion of <=200bp TC - intron_variant LIRI-JP 14 100842915 100842916 deletion of <=200bp TC - upstream_gene_variant LIRI-JP 14 100843651 100843651 single base substitution T G intron_variant LIRI-JP 14 100843651 100843651 single base substitution T G upstream_gene_variant LIRI-JP 14 100846182 100846182 single base substitution G T intron_variant LIRI-JP 14 100846182 100846182 single base substitution G T upstream_gene_variant LIRI-JP 14 100853114 100853114 single base substitution C T intron_variant LIRI-JP 14 100853568 100853573 deletion of <=200bp GATTAG - intron_variant LIRI-JP 14 100854561 100854561 single base substitution G T intron_variant LIRI-JP 14 100857258 100857258 single base substitution C A intron_variant LIRI-JP 14 100860121 100860121 single base substitution C T intron_variant LIRI-JP 14 100865600 100865600 single base substitution T C intron_variant LIRI-JP 14 100867203 100867203 single base substitution G A intron_variant LIRI-JP 14 100867669 100867669 single base substitution T A intron_variant LIRI-JP 14 100868083 100868083 single base substitution G A intron_variant LIRI-JP 14 100873365 100873365 single base substitution C G intron_variant LIRI-JP 14 100876187 100876187 single base substitution A G intron_variant LIRI-JP 14 100877899 100877899 single base substitution A G intron_variant LIRI-JP 14 100878808 100878808 single base substitution C T intron_variant LIRI-JP 14 100882338 100882338 single base substitution A G intron_variant LIRI-JP 14 100882947 100882947 single base substitution G A intron_variant LIRI-JP 14 100883186 100883186 single base substitution G T intron_variant LIRI-JP 14 100887236 100887236 single base substitution G T intron_variant LIRI-JP 14 100887889 100887889 single base substitution A G intron_variant LIRI-JP 14 100889938 100889938 single base substitution C T intron_variant LIRI-JP 14 100892020 100892020 single base substitution G A intron_variant LIRI-JP 14 100895784 100895784 single base substitution G A intron_variant LIRI-JP 14 100898947 100898947 single base substitution A G intron_variant LIRI-JP 14 100900289 100900289 single base substitution A T intron_variant LIRI-JP 14 100901867 100901867 single base substitution A T intron_variant LIRI-JP 14 100902278 100902278 single base substitution A T intron_variant LIRI-JP 14 100905454 100905454 single base substitution A G intron_variant LIRI-JP 14 100906907 100906907 single base substitution G A intron_variant LIRI-JP 14 100908151 100908151 single base substitution C A intron_variant LIRI-JP 14 100908281 100908281 single base substitution G A intron_variant LIRI-JP 14 100909648 100909648 single base substitution T G intron_variant LIRI-JP 14 100909944 100909944 deletion of <=200bp C - intron_variant LIRI-JP 14 100909996 100909996 single base substitution C T intron_variant LIRI-JP 14 100910053 100910053 single base substitution A C intron_variant LIRI-JP 14 100910150 100910150 single base substitution A T intron_variant LIRI-JP 14 100911108 100911108 single base substitution C T intron_variant LIRI-JP 14 100913205 100913205 single base substitution G A intron_variant LIRI-JP 14 100913560 100913560 single base substitution C G intron_variant LIRI-JP 14 100915061 100915061 single base substitution C T intron_variant LIRI-JP 14 100916455 100916455 single base substitution C A intron_variant LIRI-JP 14 100917215 100917215 single base substitution C G intron_variant LIRI-JP 14 100923096 100923096 single base substitution G A downstream_gene_variant LIRI-JP 14 100923096 100923096 single base substitution G A intron_variant LIRI-JP 14 100928819 100928819 single base substitution C T intron_variant LIRI-JP 14 100933862 100933862 single base substitution G T intron_variant LIRI-JP 14 100936193 100936193 single base substitution G A intron_variant LIRI-JP 14 100938352 100938352 single base substitution A T intron_variant LIRI-JP 14 100938352 100938352 single base substitution A T upstream_gene_variant LIRI-JP 14 100939220 100939220 single base substitution G T intron_variant LIRI-JP 14 100939220 100939220 single base substitution G T upstream_gene_variant LIRI-JP 14 100944422 100944422 single base substitution T C intron_variant LIRI-JP 14 100948734 100948734 single base substitution T A intron_variant LIRI-JP 14 100950201 100950201 single base substitution C A intron_variant LIRI-JP 14 100950216 100950216 single base substitution G T intron_variant LIRI-JP 14 100954103 100954103 single base substitution A G intron_variant LIRI-JP 14 100958053 100958053 single base substitution G C intron_variant LIRI-JP 14 100973167 100973167 single base substitution G A intron_variant LIRI-JP 14 100973723 100973723 single base substitution G T intron_variant LIRI-JP 14 100974210 100974210 single base substitution G T intron_variant LIRI-JP 14 100975521 100975521 single base substitution G A intron_variant LIRI-JP 14 100978911 100978911 single base substitution T C intron_variant LIRI-JP 14 100979317 100979317 single base substitution G A intron_variant LIRI-JP 14 100979612 100979612 single base substitution G T intron_variant LIRI-JP 14 100979623 100979623 single base substitution G T intron_variant LIRI-JP 14 100980603 100980603 single base substitution A C intron_variant LIRI-JP 14 100982701 100982701 single base substitution C G intron_variant LIRI-JP 14 100985821 100985821 single base substitution C T intron_variant LIRI-JP 14 100991067 100991067 single base substitution G A intron_variant LIRI-JP 14 100991067 100991067 single base substitution G A upstream_gene_variant LIRI-JP 14 100991402 100991402 single base substitution C T intron_variant LIRI-JP 14 100991402 100991402 single base substitution C T upstream_gene_variant LIRI-JP 14 100991490 100991491 deletion of <=200bp TG - intron_variant LIRI-JP 14 100991490 100991491 deletion of <=200bp TG - upstream_gene_variant LIRI-JP 14 100991615 100991615 single base substitution A G intron_variant LIRI-JP 14 100991615 100991615 single base substitution A G upstream_gene_variant LIRI-JP 14 100992849 100992849 single base substitution T C downstream_gene_variant LIRI-JP 14 100992849 100992849 single base substitution T C intron_variant LIRI-JP 14 100995766 100995766 single base substitution T A 3_prime_UTR_variant LIRI-JP 14 100995766 100995766 single base substitution T A downstream_gene_variant LIRI-JP 14 100995766 100995766 single base substitution T A intron_variant LIRI-JP 14 100996996 100996996 single base substitution G A downstream_gene_variant LIRI-JP 14 100997849 100997849 single base substitution A G downstream_gene_variant LIRI-JP 14 101001573 101001573 single base substitution G A downstream_gene_variant LUSC-KR 14 100838826 100838826 single base substitution C T upstream_gene_variant LUSC-KR 14 100839243 100839243 single base substitution C T upstream_gene_variant LUSC-KR 14 100840603 100840603 single base substitution C G upstream_gene_variant LUSC-KR 14 100842778 100842778 single base substitution T C 5_prime_UTR_variant LUSC-KR 14 100842778 100842778 single base substitution T C exon_variant LUSC-KR 14 100842778 100842778 single base substitution T C upstream_gene_variant LUSC-KR 14 100842899 100842899 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 14 100842899 100842899 single base substitution G A exon_variant LUSC-KR 14 100842899 100842899 single base substitution G A intron_variant LUSC-KR 14 100842899 100842899 single base substitution G A upstream_gene_variant LUSC-KR 14 100848293 100848293 single base substitution C G intron_variant LUSC-KR 14 100848293 100848293 single base substitution C G upstream_gene_variant LUSC-KR 14 100851608 100851608 single base substitution G A intron_variant LUSC-KR 14 100861085 100861085 single base substitution C T intron_variant LUSC-KR 14 100867845 100867845 single base substitution C T intron_variant LUSC-KR 14 100876612 100876612 single base substitution C G intron_variant LUSC-KR 14 100877461 100877461 single base substitution C T intron_variant LUSC-KR 14 100878211 100878211 single base substitution A T intron_variant LUSC-KR 14 100879390 100879390 single base substitution C G intron_variant LUSC-KR 14 100881268 100881268 single base substitution T G intron_variant LUSC-KR 14 100881844 100881844 single base substitution A T intron_variant LUSC-KR 14 100885418 100885418 single base substitution G A intron_variant LUSC-KR 14 100891140 100891140 single base substitution T C intron_variant LUSC-KR 14 100896319 100896319 single base substitution C T intron_variant LUSC-KR 14 100898891 100898891 single base substitution C T intron_variant LUSC-KR 14 100899554 100899554 single base substitution G T intron_variant LUSC-KR 14 100900179 100900179 single base substitution C G intron_variant LUSC-KR 14 100901510 100901510 single base substitution A T intron_variant LUSC-KR 14 100906072 100906072 single base substitution C A intron_variant LUSC-KR 14 100929513 100929513 single base substitution C T intron_variant LUSC-KR 14 100929983 100929983 single base substitution C G intron_variant LUSC-KR 14 100932164 100932164 single base substitution G T intron_variant LUSC-KR 14 100934602 100934602 single base substitution C T intron_variant LUSC-KR 14 100934923 100934923 single base substitution C A intron_variant LUSC-KR 14 100935396 100935396 single base substitution G T intron_variant LUSC-KR 14 100947641 100947641 single base substitution T C intron_variant LUSC-KR 14 100948183 100948183 single base substitution C T intron_variant LUSC-KR 14 100950130 100950130 single base substitution T A intron_variant LUSC-KR 14 100950822 100950822 single base substitution C T intron_variant LUSC-KR 14 100950824 100950824 single base substitution T C intron_variant LUSC-KR 14 100956568 100956568 single base substitution G C intron_variant LUSC-KR 14 100960661 100960661 single base substitution G T intron_variant LUSC-KR 14 100964927 100964927 single base substitution C T intron_variant LUSC-KR 14 100970262 100970262 single base substitution A G intron_variant LUSC-KR 14 100974581 100974581 single base substitution C G intron_variant LUSC-KR 14 100979095 100979095 single base substitution T C intron_variant LUSC-KR 14 100982147 100982147 single base substitution G T intron_variant LUSC-KR 14 100984443 100984443 single base substitution C T intron_variant LUSC-KR 14 100984849 100984849 single base substitution T C intron_variant LUSC-KR 14 100989245 100989245 single base substitution G A intron_variant LUSC-KR 14 100989245 100989245 single base substitution G A upstream_gene_variant LUSC-KR 14 100992927 100992927 single base substitution G C downstream_gene_variant LUSC-KR 14 100992927 100992927 single base substitution G C intron_variant LUSC-KR 14 100993302 100993302 single base substitution T C downstream_gene_variant LUSC-KR 14 100993302 100993302 single base substitution T C intron_variant LUSC-KR 14 100993814 100993814 single base substitution T C downstream_gene_variant LUSC-KR 14 100993814 100993814 single base substitution T C intron_variant LUSC-US 14 100847918 100847918 single base substitution G T exon_variant LUSC-US 14 100847918 100847918 single base substitution G T intron_variant LUSC-US 14 100847918 100847918 single base substitution G T missense_variant E219D 657G>T LUSC-US 14 100847918 100847918 single base substitution G T upstream_gene_variant LUSC-US 14 100950396 100950396 single base substitution C T 3_prime_UTR_variant LUSC-US 14 100950396 100950396 single base substitution C T exon_variant LUSC-US 14 100950396 100950396 single base substitution C T missense_variant H346Y 1036C>T LUSC-US 14 100950396 100950396 single base substitution C T missense_variant H89Y 265C>T MALY-DE 14 100840666 100840666 single base substitution C G upstream_gene_variant MALY-DE 14 100840937 100840937 single base substitution C T upstream_gene_variant MALY-DE 14 100841054 100841054 single base substitution C T upstream_gene_variant MALY-DE 14 100841161 100841161 single base substitution C T upstream_gene_variant MALY-DE 14 100841366 100841366 single base substitution G A upstream_gene_variant MALY-DE 14 100841609 100841609 single base substitution G A upstream_gene_variant MALY-DE 14 100842288 100842288 single base substitution C T upstream_gene_variant MALY-DE 14 100842344 100842344 single base substitution A T upstream_gene_variant MALY-DE 14 100843204 100843204 insertion of <=200bp - CAT intron_variant MALY-DE 14 100843204 100843204 insertion of <=200bp - CAT upstream_gene_variant MALY-DE 14 100848080 100848080 single base substitution C T exon_variant MALY-DE 14 100848080 100848080 single base substitution C T intron_variant MALY-DE 14 100848080 100848080 single base substitution C T synonymous_variant F273F 819C>T MALY-DE 14 100848080 100848080 single base substitution C T upstream_gene_variant MALY-DE 14 100852363 100852363 single base substitution A G intron_variant MALY-DE 14 100856190 100856190 single base substitution C T intron_variant MALY-DE 14 100858524 100858524 single base substitution G A intron_variant MALY-DE 14 100859297 100859297 single base substitution T G intron_variant MALY-DE 14 100859857 100859857 single base substitution C T intron_variant MALY-DE 14 100860191 100860191 single base substitution C G intron_variant MALY-DE 14 100861304 100861304 insertion of <=200bp - A intron_variant MALY-DE 14 100866189 100866189 single base substitution T G intron_variant MALY-DE 14 100881169 100881169 insertion of <=200bp - A intron_variant MALY-DE 14 100882109 100882109 single base substitution C T intron_variant MALY-DE 14 100882482 100882482 single base substitution C T intron_variant MALY-DE 14 100885436 100885436 single base substitution G A intron_variant MALY-DE 14 100885603 100885603 single base substitution C G intron_variant MALY-DE 14 100885709 100885709 single base substitution C G intron_variant MALY-DE 14 100885902 100885902 single base substitution G A intron_variant MALY-DE 14 100887874 100887874 single base substitution G T intron_variant MALY-DE 14 100888493 100888493 single base substitution C T intron_variant MALY-DE 14 100894916 100894916 single base substitution G A intron_variant MALY-DE 14 100896376 100896376 single base substitution C A intron_variant MALY-DE 14 100896823 100896823 single base substitution C T intron_variant MALY-DE 14 100898404 100898404 single base substitution T G intron_variant MALY-DE 14 100899471 100899471 single base substitution T A intron_variant MALY-DE 14 100915933 100915933 single base substitution G A intron_variant MALY-DE 14 100916626 100916626 single base substitution C G intron_variant MALY-DE 14 100918286 100918286 single base substitution G A intron_variant MALY-DE 14 100919134 100919134 deletion of <=200bp G - intron_variant MALY-DE 14 100938969 100938969 single base substitution G A intron_variant MALY-DE 14 100938969 100938969 single base substitution G A upstream_gene_variant MALY-DE 14 100940543 100940543 single base substitution C T intron_variant MALY-DE 14 100940543 100940543 single base substitution C T upstream_gene_variant MALY-DE 14 100944155 100944155 single base substitution G A intron_variant MALY-DE 14 100947708 100947708 single base substitution T G intron_variant MALY-DE 14 100952575 100952575 single base substitution A C intron_variant MALY-DE 14 100954692 100954692 single base substitution A T intron_variant MALY-DE 14 100955420 100955420 single base substitution A C intron_variant MALY-DE 14 100956195 100956195 single base substitution C T intron_variant MALY-DE 14 100964343 100964343 single base substitution A C intron_variant MALY-DE 14 100985579 100985579 single base substitution G T intron_variant MALY-DE 14 100985950 100985950 single base substitution C A intron_variant MALY-DE 14 100987517 100987518 deletion of <=200bp AC - intron_variant MALY-DE 14 100987517 100987518 deletion of <=200bp AC - upstream_gene_variant MALY-DE 14 100992528 100992528 single base substitution G A downstream_gene_variant MALY-DE 14 100992528 100992528 single base substitution G A intron_variant MALY-DE 14 100997488 100997488 single base substitution G A downstream_gene_variant MALY-DE 14 101001194 101001194 single base substitution C T downstream_gene_variant MELA-AU 14 100838536 100838536 single base substitution G A upstream_gene_variant MELA-AU 14 100838607 100838607 single base substitution G A upstream_gene_variant MELA-AU 14 100839515 100839515 single base substitution G A upstream_gene_variant MELA-AU 14 100840080 100840080 single base substitution G A upstream_gene_variant MELA-AU 14 100841833 100841833 single base substitution G A upstream_gene_variant MELA-AU 14 100842656 100842656 single base substitution C T upstream_gene_variant MELA-AU 14 100842659 100842659 single base substitution G A upstream_gene_variant MELA-AU 14 100842677 100842677 single base substitution G A upstream_gene_variant MELA-AU 14 100842677 100842677 single base substitution G T upstream_gene_variant MELA-AU 14 100842686 100842686 single base substitution C T upstream_gene_variant MELA-AU 14 100842730 100842730 single base substitution C T upstream_gene_variant MELA-AU 14 100843289 100843290 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100843289 100843290 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 100843898 100843898 single base substitution C T intron_variant MELA-AU 14 100843898 100843898 single base substitution C T upstream_gene_variant MELA-AU 14 100844051 100844051 single base substitution G A intron_variant MELA-AU 14 100844051 100844051 single base substitution G A upstream_gene_variant MELA-AU 14 100845043 100845043 single base substitution C T intron_variant MELA-AU 14 100845043 100845043 single base substitution C T upstream_gene_variant MELA-AU 14 100845915 100845915 single base substitution G A intron_variant MELA-AU 14 100845915 100845915 single base substitution G A upstream_gene_variant MELA-AU 14 100846014 100846014 single base substitution C T intron_variant MELA-AU 14 100846014 100846014 single base substitution C T upstream_gene_variant MELA-AU 14 100846479 100846479 single base substitution G A intron_variant MELA-AU 14 100846479 100846479 single base substitution G A upstream_gene_variant MELA-AU 14 100846610 100846610 single base substitution C T intron_variant MELA-AU 14 100846610 100846610 single base substitution C T upstream_gene_variant MELA-AU 14 100846713 100846713 single base substitution T C intron_variant MELA-AU 14 100846713 100846713 single base substitution T C upstream_gene_variant MELA-AU 14 100846732 100846732 single base substitution C T intron_variant MELA-AU 14 100846732 100846732 single base substitution C T upstream_gene_variant MELA-AU 14 100847037 100847037 single base substitution G A intron_variant MELA-AU 14 100847037 100847037 single base substitution G A upstream_gene_variant MELA-AU 14 100847057 100847057 single base substitution C T intron_variant MELA-AU 14 100847057 100847057 single base substitution C T upstream_gene_variant MELA-AU 14 100847167 100847167 single base substitution C T intron_variant MELA-AU 14 100847167 100847167 single base substitution C T upstream_gene_variant MELA-AU 14 100847207 100847207 single base substitution C T intron_variant MELA-AU 14 100847207 100847207 single base substitution C T upstream_gene_variant MELA-AU 14 100847467 100847467 single base substitution C T exon_variant MELA-AU 14 100847467 100847467 single base substitution C T intron_variant MELA-AU 14 100847467 100847467 single base substitution C T missense_variant S69F 206C>T MELA-AU 14 100847467 100847467 single base substitution C T upstream_gene_variant MELA-AU 14 100847592 100847592 single base substitution G A exon_variant MELA-AU 14 100847592 100847592 single base substitution G A intron_variant MELA-AU 14 100847592 100847592 single base substitution G A missense_variant E111K 331G>A MELA-AU 14 100847592 100847592 single base substitution G A upstream_gene_variant MELA-AU 14 100847693 100847693 single base substitution C T exon_variant MELA-AU 14 100847693 100847693 single base substitution C T intron_variant MELA-AU 14 100847693 100847693 single base substitution C T synonymous_variant P144P 432C>T MELA-AU 14 100847693 100847693 single base substitution C T upstream_gene_variant MELA-AU 14 100847720 100847720 single base substitution G A exon_variant MELA-AU 14 100847720 100847720 single base substitution G A intron_variant MELA-AU 14 100847720 100847720 single base substitution G A synonymous_variant E153E 459G>A MELA-AU 14 100847720 100847720 single base substitution G A upstream_gene_variant MELA-AU 14 100848321 100848321 single base substitution C T intron_variant MELA-AU 14 100848321 100848321 single base substitution C T upstream_gene_variant MELA-AU 14 100848741 100848741 single base substitution C T intron_variant MELA-AU 14 100848742 100848742 single base substitution C T intron_variant MELA-AU 14 100849570 100849570 single base substitution C T intron_variant MELA-AU 14 100849580 100849580 single base substitution C T intron_variant MELA-AU 14 100849751 100849751 single base substitution C T intron_variant MELA-AU 14 100849883 100849883 single base substitution C T intron_variant MELA-AU 14 100850215 100850215 single base substitution G T intron_variant MELA-AU 14 100850978 100850978 single base substitution C T intron_variant MELA-AU 14 100850998 100850998 single base substitution C T intron_variant MELA-AU 14 100852373 100852373 single base substitution C T intron_variant MELA-AU 14 100853420 100853420 single base substitution C T intron_variant MELA-AU 14 100853509 100853509 single base substitution T A intron_variant MELA-AU 14 100853553 100853553 single base substitution C T intron_variant MELA-AU 14 100853814 100853814 single base substitution C T intron_variant MELA-AU 14 100854961 100854961 single base substitution C T intron_variant MELA-AU 14 100854975 100854975 single base substitution C T intron_variant MELA-AU 14 100855130 100855130 single base substitution C T intron_variant MELA-AU 14 100855831 100855831 single base substitution C T intron_variant MELA-AU 14 100855947 100855947 single base substitution A C intron_variant MELA-AU 14 100856281 100856281 single base substitution G A intron_variant MELA-AU 14 100856624 100856624 single base substitution C T intron_variant MELA-AU 14 100857238 100857238 single base substitution G A intron_variant MELA-AU 14 100857398 100857399 multiple base substitution (>=2bp and <=200bp) TA AT intron_variant MELA-AU 14 100857484 100857484 single base substitution C G intron_variant MELA-AU 14 100857738 100857738 single base substitution C T intron_variant MELA-AU 14 100857948 100857948 single base substitution G A intron_variant MELA-AU 14 100858749 100858749 single base substitution C T intron_variant MELA-AU 14 100858880 100858880 single base substitution C T intron_variant MELA-AU 14 100859050 100859050 single base substitution C T intron_variant MELA-AU 14 100859072 100859072 single base substitution C T intron_variant MELA-AU 14 100859270 100859270 single base substitution C T intron_variant MELA-AU 14 100859685 100859685 single base substitution C T intron_variant MELA-AU 14 100859720 100859720 single base substitution C T intron_variant MELA-AU 14 100860814 100860814 single base substitution C T intron_variant MELA-AU 14 100861249 100861249 single base substitution G A intron_variant MELA-AU 14 100861640 100861640 single base substitution C T intron_variant MELA-AU 14 100862097 100862097 single base substitution C T intron_variant MELA-AU 14 100862125 100862125 single base substitution T C intron_variant MELA-AU 14 100862514 100862514 single base substitution C T intron_variant MELA-AU 14 100862592 100862592 single base substitution C T intron_variant MELA-AU 14 100862606 100862606 single base substitution C T intron_variant MELA-AU 14 100862646 100862646 single base substitution C T intron_variant MELA-AU 14 100863485 100863485 single base substitution G A intron_variant MELA-AU 14 100863777 100863777 single base substitution C T intron_variant MELA-AU 14 100865248 100865248 single base substitution C T intron_variant MELA-AU 14 100865437 100865437 single base substitution T G intron_variant MELA-AU 14 100865442 100865442 single base substitution T C intron_variant MELA-AU 14 100865681 100865681 single base substitution C T intron_variant MELA-AU 14 100865842 100865842 single base substitution C T intron_variant MELA-AU 14 100867054 100867054 single base substitution G A intron_variant MELA-AU 14 100867175 100867175 single base substitution C T intron_variant MELA-AU 14 100867237 100867237 single base substitution T G intron_variant MELA-AU 14 100867828 100867828 single base substitution G A intron_variant MELA-AU 14 100868164 100868164 single base substitution T G intron_variant MELA-AU 14 100868740 100868740 single base substitution C T intron_variant MELA-AU 14 100869059 100869059 single base substitution C T intron_variant MELA-AU 14 100869579 100869579 single base substitution G A intron_variant MELA-AU 14 100870163 100870163 single base substitution C T intron_variant MELA-AU 14 100870173 100870173 single base substitution C T intron_variant MELA-AU 14 100870929 100870929 single base substitution C T intron_variant MELA-AU 14 100870975 100870975 single base substitution C T intron_variant MELA-AU 14 100871024 100871024 single base substitution C T intron_variant MELA-AU 14 100871405 100871405 single base substitution G A intron_variant MELA-AU 14 100871874 100871874 single base substitution C T intron_variant MELA-AU 14 100871878 100871878 single base substitution G A intron_variant MELA-AU 14 100872419 100872419 single base substitution C T intron_variant MELA-AU 14 100872547 100872547 single base substitution G A intron_variant MELA-AU 14 100873726 100873726 single base substitution C T intron_variant MELA-AU 14 100873861 100873861 single base substitution C T intron_variant MELA-AU 14 100874374 100874374 single base substitution G A intron_variant MELA-AU 14 100874868 100874868 single base substitution C T intron_variant MELA-AU 14 100874873 100874873 single base substitution C T intron_variant MELA-AU 14 100875094 100875094 single base substitution C T intron_variant MELA-AU 14 100875292 100875292 single base substitution C T intron_variant MELA-AU 14 100875423 100875423 single base substitution C T intron_variant MELA-AU 14 100875469 100875469 single base substitution C T intron_variant MELA-AU 14 100876551 100876552 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100877105 100877105 single base substitution G A intron_variant MELA-AU 14 100877133 100877133 single base substitution T A intron_variant MELA-AU 14 100877345 100877345 single base substitution C T intron_variant MELA-AU 14 100877635 100877635 single base substitution T C intron_variant MELA-AU 14 100877849 100877849 single base substitution C T intron_variant MELA-AU 14 100879289 100879289 single base substitution C T intron_variant MELA-AU 14 100880455 100880455 single base substitution C T intron_variant MELA-AU 14 100881634 100881634 single base substitution T C intron_variant MELA-AU 14 100882624 100882624 single base substitution G A intron_variant MELA-AU 14 100882889 100882889 single base substitution C T intron_variant MELA-AU 14 100882899 100882899 single base substitution C T intron_variant MELA-AU 14 100883114 100883114 single base substitution C T intron_variant MELA-AU 14 100884067 100884067 single base substitution G A intron_variant MELA-AU 14 100884149 100884149 single base substitution C T intron_variant MELA-AU 14 100885277 100885277 single base substitution C T intron_variant MELA-AU 14 100885588 100885588 single base substitution C T intron_variant MELA-AU 14 100885651 100885651 single base substitution C T intron_variant MELA-AU 14 100885872 100885872 single base substitution G A intron_variant MELA-AU 14 100886680 100886680 single base substitution C T intron_variant MELA-AU 14 100886807 100886807 single base substitution C T intron_variant MELA-AU 14 100887044 100887044 single base substitution C T intron_variant MELA-AU 14 100887141 100887141 single base substitution C T intron_variant MELA-AU 14 100887178 100887178 single base substitution C T intron_variant MELA-AU 14 100888259 100888259 single base substitution C T intron_variant MELA-AU 14 100888648 100888648 single base substitution C T intron_variant MELA-AU 14 100889263 100889263 single base substitution G A intron_variant MELA-AU 14 100889592 100889592 single base substitution C T intron_variant MELA-AU 14 100889701 100889701 single base substitution G A intron_variant MELA-AU 14 100889727 100889727 single base substitution C T intron_variant MELA-AU 14 100889803 100889803 single base substitution C T intron_variant MELA-AU 14 100889969 100889969 single base substitution C T intron_variant MELA-AU 14 100890304 100890304 single base substitution C T intron_variant MELA-AU 14 100891817 100891817 single base substitution C T intron_variant MELA-AU 14 100891943 100891943 single base substitution C T intron_variant MELA-AU 14 100892003 100892003 single base substitution G A intron_variant MELA-AU 14 100892086 100892086 single base substitution C T intron_variant MELA-AU 14 100892768 100892768 single base substitution A C intron_variant MELA-AU 14 100892907 100892907 single base substitution G A intron_variant MELA-AU 14 100893047 100893047 single base substitution C T intron_variant MELA-AU 14 100893380 100893380 single base substitution G A intron_variant MELA-AU 14 100893435 100893435 single base substitution C T intron_variant MELA-AU 14 100893618 100893618 single base substitution C T intron_variant MELA-AU 14 100894383 100894384 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100894389 100894389 single base substitution C T intron_variant MELA-AU 14 100894473 100894473 single base substitution C T intron_variant MELA-AU 14 100894953 100894953 single base substitution C T intron_variant MELA-AU 14 100894988 100894988 single base substitution C T intron_variant MELA-AU 14 100894992 100894992 single base substitution C T intron_variant MELA-AU 14 100895043 100895043 single base substitution C T intron_variant MELA-AU 14 100895374 100895374 single base substitution C T intron_variant MELA-AU 14 100896024 100896024 single base substitution C T intron_variant MELA-AU 14 100897162 100897162 single base substitution C T intron_variant MELA-AU 14 100897307 100897307 single base substitution C T intron_variant MELA-AU 14 100897644 100897644 single base substitution A G intron_variant MELA-AU 14 100897653 100897653 single base substitution C T intron_variant MELA-AU 14 100897682 100897682 single base substitution C T intron_variant MELA-AU 14 100897789 100897789 single base substitution A G intron_variant MELA-AU 14 100898043 100898043 single base substitution C T intron_variant MELA-AU 14 100898461 100898461 single base substitution T C intron_variant MELA-AU 14 100900067 100900067 single base substitution C T intron_variant MELA-AU 14 100900665 100900665 single base substitution C T intron_variant MELA-AU 14 100900856 100900856 single base substitution G A intron_variant MELA-AU 14 100900864 100900865 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100901063 100901063 single base substitution C T intron_variant MELA-AU 14 100901166 100901166 single base substitution A T intron_variant MELA-AU 14 100901725 100901725 single base substitution C T intron_variant MELA-AU 14 100901781 100901781 single base substitution A T intron_variant MELA-AU 14 100901929 100901929 single base substitution C T intron_variant MELA-AU 14 100902190 100902190 single base substitution G A intron_variant MELA-AU 14 100902839 100902839 single base substitution C T intron_variant MELA-AU 14 100903565 100903565 single base substitution G A intron_variant MELA-AU 14 100904584 100904584 single base substitution C T intron_variant MELA-AU 14 100905354 100905354 single base substitution G A intron_variant MELA-AU 14 100906544 100906544 single base substitution C T intron_variant MELA-AU 14 100906545 100906545 single base substitution C T intron_variant MELA-AU 14 100906732 100906732 single base substitution C T intron_variant MELA-AU 14 100906999 100906999 single base substitution C T intron_variant MELA-AU 14 100907018 100907018 single base substitution C T intron_variant MELA-AU 14 100907019 100907019 single base substitution C T intron_variant MELA-AU 14 100907236 100907236 single base substitution C T intron_variant MELA-AU 14 100907704 100907705 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 14 100910109 100910110 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100910237 100910237 single base substitution C T intron_variant MELA-AU 14 100910435 100910435 single base substitution C T intron_variant MELA-AU 14 100910912 100910912 single base substitution C T intron_variant MELA-AU 14 100911081 100911081 single base substitution G C intron_variant MELA-AU 14 100911275 100911275 single base substitution C T intron_variant MELA-AU 14 100911276 100911276 single base substitution C T intron_variant MELA-AU 14 100911399 100911399 single base substitution G T intron_variant MELA-AU 14 100911442 100911442 single base substitution C T intron_variant MELA-AU 14 100912007 100912007 single base substitution T A intron_variant MELA-AU 14 100912053 100912053 single base substitution T A intron_variant MELA-AU 14 100912153 100912153 single base substitution C T intron_variant MELA-AU 14 100912262 100912262 single base substitution G A intron_variant MELA-AU 14 100912440 100912440 single base substitution C T intron_variant MELA-AU 14 100914101 100914101 single base substitution C T intron_variant MELA-AU 14 100914132 100914132 single base substitution C T intron_variant MELA-AU 14 100914486 100914486 single base substitution C T intron_variant MELA-AU 14 100914717 100914717 single base substitution C T intron_variant MELA-AU 14 100914871 100914872 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100915192 100915192 single base substitution T A intron_variant MELA-AU 14 100915194 100915194 single base substitution C T intron_variant MELA-AU 14 100915300 100915300 single base substitution G A intron_variant MELA-AU 14 100915361 100915361 single base substitution C T intron_variant MELA-AU 14 100915693 100915693 single base substitution C T intron_variant MELA-AU 14 100915781 100915781 single base substitution C T intron_variant MELA-AU 14 100915998 100915998 single base substitution C T intron_variant MELA-AU 14 100916851 100916851 single base substitution T C intron_variant MELA-AU 14 100916936 100916936 single base substitution C T intron_variant MELA-AU 14 100917455 100917455 single base substitution C T intron_variant MELA-AU 14 100917736 100917736 single base substitution A T intron_variant MELA-AU 14 100917783 100917783 single base substitution C T intron_variant MELA-AU 14 100918386 100918386 single base substitution C T intron_variant MELA-AU 14 100918630 100918630 single base substitution G A intron_variant MELA-AU 14 100918836 100918836 single base substitution C T intron_variant MELA-AU 14 100919182 100919182 single base substitution C T intron_variant MELA-AU 14 100919634 100919634 single base substitution C T intron_variant MELA-AU 14 100919971 100919972 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100919982 100919982 single base substitution C T intron_variant MELA-AU 14 100920833 100920833 single base substitution A G 3_prime_UTR_variant MELA-AU 14 100920833 100920833 single base substitution A G intron_variant MELA-AU 14 100921208 100921208 single base substitution C T 3_prime_UTR_variant MELA-AU 14 100921208 100921208 single base substitution C T intron_variant MELA-AU 14 100921579 100921579 single base substitution G A 3_prime_UTR_variant MELA-AU 14 100921579 100921579 single base substitution G A intron_variant MELA-AU 14 100921621 100921621 single base substitution C T 3_prime_UTR_variant MELA-AU 14 100921621 100921621 single base substitution C T intron_variant MELA-AU 14 100921627 100921627 single base substitution C T 3_prime_UTR_variant MELA-AU 14 100921627 100921627 single base substitution C T intron_variant MELA-AU 14 100922219 100922219 single base substitution C T downstream_gene_variant MELA-AU 14 100922219 100922219 single base substitution C T intron_variant MELA-AU 14 100922586 100922586 single base substitution C T downstream_gene_variant MELA-AU 14 100922586 100922586 single base substitution C T intron_variant MELA-AU 14 100922767 100922767 single base substitution G A downstream_gene_variant MELA-AU 14 100922767 100922767 single base substitution G A intron_variant MELA-AU 14 100922852 100922852 single base substitution G A downstream_gene_variant MELA-AU 14 100922852 100922852 single base substitution G A intron_variant MELA-AU 14 100923337 100923337 single base substitution C A downstream_gene_variant MELA-AU 14 100923337 100923337 single base substitution C A intron_variant MELA-AU 14 100923509 100923509 single base substitution C T downstream_gene_variant MELA-AU 14 100923509 100923509 single base substitution C T intron_variant MELA-AU 14 100923549 100923549 single base substitution C T downstream_gene_variant MELA-AU 14 100923549 100923549 single base substitution C T intron_variant MELA-AU 14 100923993 100923993 single base substitution G A downstream_gene_variant MELA-AU 14 100923993 100923993 single base substitution G A intron_variant MELA-AU 14 100924532 100924532 single base substitution A G downstream_gene_variant MELA-AU 14 100924532 100924532 single base substitution A G intron_variant MELA-AU 14 100925144 100925144 single base substitution G A downstream_gene_variant MELA-AU 14 100925144 100925144 single base substitution G A intron_variant MELA-AU 14 100925950 100925950 single base substitution C T downstream_gene_variant MELA-AU 14 100925950 100925950 single base substitution C T intron_variant MELA-AU 14 100925991 100925991 single base substitution G A downstream_gene_variant MELA-AU 14 100925991 100925991 single base substitution G A intron_variant MELA-AU 14 100926559 100926559 single base substitution C T downstream_gene_variant MELA-AU 14 100926559 100926559 single base substitution C T intron_variant MELA-AU 14 100927983 100927983 single base substitution C T intron_variant MELA-AU 14 100928033 100928033 single base substitution G T intron_variant MELA-AU 14 100928148 100928148 single base substitution G A intron_variant MELA-AU 14 100928595 100928595 single base substitution C T intron_variant MELA-AU 14 100928669 100928669 single base substitution C T intron_variant MELA-AU 14 100928947 100928947 single base substitution G A intron_variant MELA-AU 14 100929130 100929130 single base substitution C T intron_variant MELA-AU 14 100929321 100929321 single base substitution C T intron_variant MELA-AU 14 100929371 100929371 single base substitution T C intron_variant MELA-AU 14 100929429 100929429 single base substitution C T intron_variant MELA-AU 14 100929494 100929494 single base substitution C T intron_variant MELA-AU 14 100929518 100929518 single base substitution C T intron_variant MELA-AU 14 100929595 100929595 single base substitution T A intron_variant MELA-AU 14 100929825 100929825 insertion of <=200bp - TG intron_variant MELA-AU 14 100929918 100929918 single base substitution C T intron_variant MELA-AU 14 100930363 100930363 single base substitution C T intron_variant MELA-AU 14 100930474 100930474 single base substitution C T intron_variant MELA-AU 14 100931038 100931038 single base substitution C T intron_variant MELA-AU 14 100931276 100931276 single base substitution C T intron_variant MELA-AU 14 100931702 100931702 single base substitution C T intron_variant MELA-AU 14 100932102 100932102 single base substitution T C intron_variant MELA-AU 14 100932425 100932425 single base substitution C T intron_variant MELA-AU 14 100932685 100932685 single base substitution C T intron_variant MELA-AU 14 100933045 100933045 single base substitution C T intron_variant MELA-AU 14 100933046 100933046 single base substitution C T intron_variant MELA-AU 14 100933209 100933209 single base substitution C T intron_variant MELA-AU 14 100933841 100933841 single base substitution C T intron_variant MELA-AU 14 100934402 100934402 single base substitution C T exon_variant MELA-AU 14 100934402 100934402 single base substitution C T intron_variant MELA-AU 14 100934402 100934402 single base substitution C T synonymous_variant S289S 867C>T MELA-AU 14 100934402 100934402 single base substitution C T synonymous_variant S32S 96C>T MELA-AU 14 100934687 100934687 single base substitution C T intron_variant MELA-AU 14 100934770 100934770 single base substitution G A intron_variant MELA-AU 14 100935121 100935121 single base substitution C T intron_variant MELA-AU 14 100935168 100935168 single base substitution G A intron_variant MELA-AU 14 100935194 100935194 single base substitution C T intron_variant MELA-AU 14 100935210 100935210 single base substitution C T intron_variant MELA-AU 14 100935227 100935227 single base substitution C T intron_variant MELA-AU 14 100936383 100936383 single base substitution A G intron_variant MELA-AU 14 100936422 100936422 single base substitution C T intron_variant MELA-AU 14 100936619 100936619 single base substitution G A intron_variant MELA-AU 14 100937443 100937443 single base substitution C T intron_variant MELA-AU 14 100937721 100937721 single base substitution C T intron_variant MELA-AU 14 100938601 100938601 single base substitution C T intron_variant MELA-AU 14 100938601 100938601 single base substitution C T upstream_gene_variant MELA-AU 14 100938954 100938954 single base substitution C T intron_variant MELA-AU 14 100938954 100938954 single base substitution C T upstream_gene_variant MELA-AU 14 100939375 100939375 single base substitution C T intron_variant MELA-AU 14 100939375 100939375 single base substitution C T upstream_gene_variant MELA-AU 14 100939407 100939407 single base substitution C T intron_variant MELA-AU 14 100939407 100939407 single base substitution C T upstream_gene_variant MELA-AU 14 100939503 100939503 single base substitution C T intron_variant MELA-AU 14 100939503 100939503 single base substitution C T upstream_gene_variant MELA-AU 14 100939623 100939623 single base substitution C T intron_variant MELA-AU 14 100939623 100939623 single base substitution C T upstream_gene_variant MELA-AU 14 100939943 100939943 single base substitution C T intron_variant MELA-AU 14 100939943 100939943 single base substitution C T upstream_gene_variant MELA-AU 14 100939998 100939998 single base substitution G A intron_variant MELA-AU 14 100939998 100939998 single base substitution G A upstream_gene_variant MELA-AU 14 100940129 100940129 single base substitution C T intron_variant MELA-AU 14 100940129 100940129 single base substitution C T upstream_gene_variant MELA-AU 14 100940567 100940567 single base substitution T A intron_variant MELA-AU 14 100940567 100940567 single base substitution T A upstream_gene_variant MELA-AU 14 100941267 100941267 single base substitution T C intron_variant MELA-AU 14 100941267 100941267 single base substitution T C upstream_gene_variant MELA-AU 14 100941327 100941327 single base substitution G A intron_variant MELA-AU 14 100941327 100941327 single base substitution G A upstream_gene_variant MELA-AU 14 100941340 100941341 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 14 100941340 100941341 multiple base substitution (>=2bp and <=200bp) AG TA upstream_gene_variant MELA-AU 14 100941510 100941511 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100941510 100941511 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 100941688 100941689 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 14 100941688 100941689 multiple base substitution (>=2bp and <=200bp) AC TT upstream_gene_variant MELA-AU 14 100942223 100942223 insertion of <=200bp - AT intron_variant MELA-AU 14 100942223 100942223 insertion of <=200bp - AT upstream_gene_variant MELA-AU 14 100943546 100943546 single base substitution T G intron_variant MELA-AU 14 100944036 100944036 single base substitution C T intron_variant MELA-AU 14 100944176 100944176 single base substitution C T intron_variant MELA-AU 14 100944476 100944476 single base substitution C T intron_variant MELA-AU 14 100945593 100945593 single base substitution G A intron_variant MELA-AU 14 100945598 100945598 single base substitution C T intron_variant MELA-AU 14 100946142 100946142 single base substitution C T intron_variant MELA-AU 14 100946143 100946143 single base substitution C T intron_variant MELA-AU 14 100946294 100946294 single base substitution C T intron_variant MELA-AU 14 100946388 100946388 single base substitution C T intron_variant MELA-AU 14 100946674 100946674 single base substitution T C intron_variant MELA-AU 14 100947001 100947001 single base substitution C T intron_variant MELA-AU 14 100947044 100947044 single base substitution C T intron_variant MELA-AU 14 100947336 100947336 single base substitution C T intron_variant MELA-AU 14 100947337 100947337 single base substitution C T intron_variant MELA-AU 14 100948033 100948033 single base substitution C T intron_variant MELA-AU 14 100948085 100948085 single base substitution C T intron_variant MELA-AU 14 100948344 100948344 single base substitution A T intron_variant MELA-AU 14 100948593 100948593 single base substitution C T intron_variant MELA-AU 14 100948852 100948852 single base substitution G A intron_variant MELA-AU 14 100949151 100949151 single base substitution T C intron_variant MELA-AU 14 100949354 100949354 single base substitution G C intron_variant MELA-AU 14 100949603 100949603 single base substitution C T intron_variant MELA-AU 14 100949747 100949747 single base substitution C T intron_variant MELA-AU 14 100949787 100949787 single base substitution C T intron_variant MELA-AU 14 100949827 100949827 single base substitution C T intron_variant MELA-AU 14 100950812 100950812 single base substitution T C intron_variant MELA-AU 14 100950822 100950822 single base substitution C T intron_variant MELA-AU 14 100950956 100950956 single base substitution C T intron_variant MELA-AU 14 100951361 100951361 single base substitution C T intron_variant MELA-AU 14 100951525 100951525 single base substitution C T intron_variant MELA-AU 14 100951690 100951690 single base substitution C T intron_variant MELA-AU 14 100953330 100953330 single base substitution C T intron_variant MELA-AU 14 100953422 100953422 single base substitution G A intron_variant MELA-AU 14 100953783 100953783 single base substitution G T intron_variant MELA-AU 14 100954193 100954193 single base substitution C T intron_variant MELA-AU 14 100955092 100955092 single base substitution C T intron_variant MELA-AU 14 100955392 100955392 single base substitution C T intron_variant MELA-AU 14 100955410 100955411 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100955617 100955617 single base substitution C T intron_variant MELA-AU 14 100955823 100955823 single base substitution T A intron_variant MELA-AU 14 100956046 100956046 single base substitution G C intron_variant MELA-AU 14 100956314 100956314 single base substitution C T intron_variant MELA-AU 14 100956474 100956474 single base substitution G C intron_variant MELA-AU 14 100956584 100956584 single base substitution G C intron_variant MELA-AU 14 100956939 100956939 single base substitution C T intron_variant MELA-AU 14 100957110 100957110 single base substitution C T intron_variant MELA-AU 14 100957207 100957207 single base substitution C T intron_variant MELA-AU 14 100957374 100957374 single base substitution C T intron_variant MELA-AU 14 100957549 100957549 single base substitution C T intron_variant MELA-AU 14 100958350 100958350 single base substitution C T intron_variant MELA-AU 14 100958364 100958364 single base substitution G A intron_variant MELA-AU 14 100958376 100958376 single base substitution C T intron_variant MELA-AU 14 100958384 100958384 single base substitution C T intron_variant MELA-AU 14 100959215 100959215 single base substitution C T intron_variant MELA-AU 14 100959302 100959302 single base substitution C T intron_variant MELA-AU 14 100959583 100959583 single base substitution C T intron_variant MELA-AU 14 100959971 100959971 single base substitution C T intron_variant MELA-AU 14 100960349 100960349 single base substitution C T intron_variant MELA-AU 14 100960362 100960362 single base substitution C T intron_variant MELA-AU 14 100960685 100960685 single base substitution C T intron_variant MELA-AU 14 100960987 100960987 single base substitution C T intron_variant MELA-AU 14 100961027 100961027 single base substitution C T intron_variant MELA-AU 14 100961122 100961122 single base substitution G A intron_variant MELA-AU 14 100961577 100961577 single base substitution C T intron_variant MELA-AU 14 100962199 100962199 single base substitution C T intron_variant MELA-AU 14 100962615 100962615 single base substitution G A intron_variant MELA-AU 14 100962629 100962629 single base substitution A G intron_variant MELA-AU 14 100962885 100962885 single base substitution C T intron_variant MELA-AU 14 100964064 100964064 single base substitution C T intron_variant MELA-AU 14 100964158 100964158 single base substitution C T intron_variant MELA-AU 14 100964395 100964395 single base substitution T G intron_variant MELA-AU 14 100964515 100964515 single base substitution G A intron_variant MELA-AU 14 100964636 100964636 single base substitution G A intron_variant MELA-AU 14 100965101 100965101 single base substitution C T intron_variant MELA-AU 14 100965101 100965101 single base substitution C T upstream_gene_variant MELA-AU 14 100965592 100965592 single base substitution A C intron_variant MELA-AU 14 100965592 100965592 single base substitution A C upstream_gene_variant MELA-AU 14 100965592 100965592 single base substitution A G intron_variant MELA-AU 14 100965592 100965592 single base substitution A G upstream_gene_variant MELA-AU 14 100966082 100966082 single base substitution C T intron_variant MELA-AU 14 100966082 100966082 single base substitution C T upstream_gene_variant MELA-AU 14 100966122 100966123 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 100966122 100966123 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 100966620 100966620 single base substitution G A intron_variant MELA-AU 14 100966620 100966620 single base substitution G A upstream_gene_variant MELA-AU 14 100966648 100966648 single base substitution T G intron_variant MELA-AU 14 100966648 100966648 single base substitution T G upstream_gene_variant MELA-AU 14 100966682 100966682 single base substitution C T intron_variant MELA-AU 14 100966682 100966682 single base substitution C T upstream_gene_variant MELA-AU 14 100966690 100966690 single base substitution C T intron_variant MELA-AU 14 100966690 100966690 single base substitution C T upstream_gene_variant MELA-AU 14 100966816 100966816 single base substitution G A intron_variant MELA-AU 14 100966816 100966816 single base substitution G A upstream_gene_variant MELA-AU 14 100966897 100966897 single base substitution C T intron_variant MELA-AU 14 100966897 100966897 single base substitution C T upstream_gene_variant MELA-AU 14 100967199 100967199 single base substitution C T intron_variant MELA-AU 14 100967199 100967199 single base substitution C T upstream_gene_variant MELA-AU 14 100967355 100967355 single base substitution T C intron_variant MELA-AU 14 100967355 100967355 single base substitution T C upstream_gene_variant MELA-AU 14 100967381 100967381 single base substitution C T intron_variant MELA-AU 14 100967381 100967381 single base substitution C T upstream_gene_variant MELA-AU 14 100968333 100968333 single base substitution T A intron_variant MELA-AU 14 100968333 100968333 single base substitution T A upstream_gene_variant MELA-AU 14 100968644 100968644 single base substitution G A intron_variant MELA-AU 14 100968644 100968644 single base substitution G A upstream_gene_variant MELA-AU 14 100968723 100968723 single base substitution C T intron_variant MELA-AU 14 100968723 100968723 single base substitution C T upstream_gene_variant MELA-AU 14 100968916 100968916 single base substitution C T intron_variant MELA-AU 14 100968916 100968916 single base substitution C T upstream_gene_variant MELA-AU 14 100969159 100969159 single base substitution C T intron_variant MELA-AU 14 100969159 100969159 single base substitution C T upstream_gene_variant MELA-AU 14 100969332 100969332 single base substitution C T intron_variant MELA-AU 14 100969332 100969332 single base substitution C T upstream_gene_variant MELA-AU 14 100969357 100969357 single base substitution C T intron_variant MELA-AU 14 100969357 100969357 single base substitution C T upstream_gene_variant MELA-AU 14 100970172 100970172 single base substitution C T intron_variant MELA-AU 14 100970738 100970738 single base substitution C T intron_variant MELA-AU 14 100970986 100970986 single base substitution C T exon_variant MELA-AU 14 100970986 100970986 single base substitution C T intron_variant MELA-AU 14 100971067 100971067 single base substitution G A intron_variant MELA-AU 14 100971113 100971113 single base substitution T A intron_variant MELA-AU 14 100971250 100971250 single base substitution T G intron_variant MELA-AU 14 100971254 100971254 single base substitution T A intron_variant MELA-AU 14 100972554 100972554 single base substitution C T intron_variant MELA-AU 14 100972692 100972692 single base substitution G A intron_variant MELA-AU 14 100972790 100972790 single base substitution G A intron_variant MELA-AU 14 100973126 100973126 single base substitution A G intron_variant MELA-AU 14 100973350 100973350 single base substitution C T intron_variant MELA-AU 14 100973351 100973351 single base substitution C T intron_variant MELA-AU 14 100973445 100973445 single base substitution C T intron_variant MELA-AU 14 100973604 100973604 single base substitution C T intron_variant MELA-AU 14 100973937 100973937 single base substitution C T intron_variant MELA-AU 14 100974114 100974114 single base substitution C T intron_variant MELA-AU 14 100974907 100974907 single base substitution G A intron_variant MELA-AU 14 100975250 100975250 single base substitution T C intron_variant MELA-AU 14 100975261 100975261 single base substitution C T intron_variant MELA-AU 14 100975533 100975533 single base substitution G T intron_variant MELA-AU 14 100975663 100975663 single base substitution C T intron_variant MELA-AU 14 100975811 100975811 single base substitution C T intron_variant MELA-AU 14 100976644 100976644 single base substitution C T intron_variant MELA-AU 14 100976858 100976858 single base substitution A G intron_variant MELA-AU 14 100977027 100977027 single base substitution C T intron_variant MELA-AU 14 100977114 100977114 single base substitution T C intron_variant MELA-AU 14 100977203 100977203 single base substitution G A intron_variant MELA-AU 14 100977698 100977698 single base substitution G T intron_variant MELA-AU 14 100977792 100977792 single base substitution C T intron_variant MELA-AU 14 100977910 100977910 single base substitution T A intron_variant MELA-AU 14 100977933 100977933 single base substitution C T intron_variant MELA-AU 14 100978276 100978276 single base substitution C T intron_variant MELA-AU 14 100978288 100978288 single base substitution T C intron_variant MELA-AU 14 100978521 100978521 single base substitution C T intron_variant MELA-AU 14 100978589 100978589 single base substitution G A intron_variant MELA-AU 14 100978698 100978698 single base substitution C T intron_variant MELA-AU 14 100978779 100978779 single base substitution A G intron_variant MELA-AU 14 100978834 100978834 single base substitution C T intron_variant MELA-AU 14 100978989 100978989 single base substitution C T intron_variant MELA-AU 14 100979447 100979447 single base substitution T C intron_variant MELA-AU 14 100979595 100979595 single base substitution T C intron_variant MELA-AU 14 100979930 100979930 single base substitution C T intron_variant MELA-AU 14 100980120 100980120 single base substitution C T intron_variant MELA-AU 14 100980286 100980286 single base substitution T A intron_variant MELA-AU 14 100980508 100980508 single base substitution C T intron_variant MELA-AU 14 100981237 100981237 single base substitution A G intron_variant MELA-AU 14 100981325 100981325 single base substitution T C intron_variant MELA-AU 14 100981801 100981801 single base substitution T C intron_variant MELA-AU 14 100982056 100982056 single base substitution C T intron_variant MELA-AU 14 100982226 100982226 single base substitution C T intron_variant MELA-AU 14 100982303 100982303 single base substitution C T intron_variant MELA-AU 14 100982568 100982568 single base substitution T C intron_variant MELA-AU 14 100982760 100982760 single base substitution G A intron_variant MELA-AU 14 100982926 100982926 single base substitution G A intron_variant MELA-AU 14 100983483 100983483 single base substitution C T intron_variant MELA-AU 14 100983491 100983491 single base substitution C T intron_variant MELA-AU 14 100984033 100984033 single base substitution T C intron_variant MELA-AU 14 100984042 100984042 single base substitution G A intron_variant MELA-AU 14 100984089 100984089 single base substitution G A intron_variant MELA-AU 14 100984243 100984243 single base substitution C T intron_variant MELA-AU 14 100984301 100984301 single base substitution C T intron_variant MELA-AU 14 100984721 100984721 single base substitution T A intron_variant MELA-AU 14 100984883 100984883 single base substitution C T intron_variant MELA-AU 14 100984898 100984898 single base substitution C T intron_variant MELA-AU 14 100984926 100984926 single base substitution C T intron_variant MELA-AU 14 100985038 100985038 single base substitution G A intron_variant MELA-AU 14 100985295 100985295 single base substitution C T intron_variant MELA-AU 14 100985379 100985379 single base substitution C T intron_variant MELA-AU 14 100985634 100985634 single base substitution G A intron_variant MELA-AU 14 100985782 100985782 single base substitution C T intron_variant MELA-AU 14 100986475 100986475 single base substitution G A intron_variant MELA-AU 14 100986670 100986670 single base substitution C T intron_variant MELA-AU 14 100987361 100987362 multiple base substitution (>=2bp and <=200bp) AT GC intron_variant MELA-AU 14 100987361 100987362 multiple base substitution (>=2bp and <=200bp) AT GC upstream_gene_variant MELA-AU 14 100987722 100987722 single base substitution C T intron_variant MELA-AU 14 100987722 100987722 single base substitution C T upstream_gene_variant MELA-AU 14 100987723 100987723 single base substitution C T intron_variant MELA-AU 14 100987723 100987723 single base substitution C T upstream_gene_variant MELA-AU 14 100987810 100987810 single base substitution G A intron_variant MELA-AU 14 100987810 100987810 single base substitution G A upstream_gene_variant MELA-AU 14 100987991 100987991 single base substitution C T intron_variant MELA-AU 14 100987991 100987991 single base substitution C T upstream_gene_variant MELA-AU 14 100988185 100988186 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 100988185 100988186 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 100988186 100988186 single base substitution C T intron_variant MELA-AU 14 100988186 100988186 single base substitution C T upstream_gene_variant MELA-AU 14 100990398 100990398 single base substitution C T intron_variant MELA-AU 14 100990398 100990398 single base substitution C T upstream_gene_variant MELA-AU 14 100990993 100990993 single base substitution C T intron_variant MELA-AU 14 100990993 100990993 single base substitution C T upstream_gene_variant MELA-AU 14 100991001 100991001 single base substitution C T intron_variant MELA-AU 14 100991001 100991001 single base substitution C T upstream_gene_variant MELA-AU 14 100991812 100991812 single base substitution A G intron_variant MELA-AU 14 100991812 100991812 single base substitution A G upstream_gene_variant MELA-AU 14 100991910 100991910 single base substitution C T intron_variant MELA-AU 14 100991910 100991910 single base substitution C T upstream_gene_variant MELA-AU 14 100992257 100992257 single base substitution C T 3_prime_UTR_variant MELA-AU 14 100992257 100992257 single base substitution C T downstream_gene_variant MELA-AU 14 100992257 100992257 single base substitution C T exon_variant MELA-AU 14 100992257 100992257 single base substitution C T synonymous_variant F127F 381C>T MELA-AU 14 100992257 100992257 single base substitution C T synonymous_variant F384F 1152C>T MELA-AU 14 100992257 100992257 single base substitution C T upstream_gene_variant MELA-AU 14 100992387 100992387 single base substitution C T downstream_gene_variant MELA-AU 14 100992387 100992387 single base substitution C T intron_variant MELA-AU 14 100992537 100992537 single base substitution G T downstream_gene_variant MELA-AU 14 100992537 100992537 single base substitution G T intron_variant MELA-AU 14 100992876 100992876 single base substitution C T downstream_gene_variant MELA-AU 14 100992876 100992876 single base substitution C T intron_variant MELA-AU 14 100993259 100993259 single base substitution C T downstream_gene_variant MELA-AU 14 100993259 100993259 single base substitution C T intron_variant MELA-AU 14 100993697 100993697 single base substitution C T downstream_gene_variant MELA-AU 14 100993697 100993697 single base substitution C T intron_variant MELA-AU 14 100993728 100993728 single base substitution C T downstream_gene_variant MELA-AU 14 100993728 100993728 single base substitution C T intron_variant MELA-AU 14 100993893 100993893 single base substitution C T downstream_gene_variant MELA-AU 14 100993893 100993893 single base substitution C T intron_variant MELA-AU 14 100994366 100994366 single base substitution C T downstream_gene_variant MELA-AU 14 100994366 100994366 single base substitution C T intron_variant MELA-AU 14 100994833 100994833 single base substitution C T downstream_gene_variant MELA-AU 14 100994833 100994833 single base substitution C T intron_variant MELA-AU 14 100995139 100995139 single base substitution C T downstream_gene_variant MELA-AU 14 100995139 100995139 single base substitution C T intron_variant MELA-AU 14 100995207 100995207 single base substitution C T downstream_gene_variant MELA-AU 14 100995207 100995207 single base substitution C T intron_variant MELA-AU 14 100995878 100995878 single base substitution G A 3_prime_UTR_variant MELA-AU 14 100995878 100995878 single base substitution G A downstream_gene_variant MELA-AU 14 100995878 100995878 single base substitution G A intron_variant MELA-AU 14 100996012 100996012 single base substitution C T downstream_gene_variant MELA-AU 14 100996012 100996012 single base substitution C T intron_variant MELA-AU 14 100996535 100996535 single base substitution C T 3_prime_UTR_variant MELA-AU 14 100996535 100996535 single base substitution C T downstream_gene_variant MELA-AU 14 100996817 100996817 single base substitution G A downstream_gene_variant MELA-AU 14 100997078 100997078 single base substitution C T downstream_gene_variant MELA-AU 14 100997115 100997115 single base substitution C T downstream_gene_variant MELA-AU 14 100998066 100998066 single base substitution C T downstream_gene_variant MELA-AU 14 100998172 100998172 single base substitution C T downstream_gene_variant MELA-AU 14 100998916 100998916 single base substitution C G downstream_gene_variant MELA-AU 14 100999197 100999197 single base substitution G A downstream_gene_variant MELA-AU 14 100999198 100999198 single base substitution T C downstream_gene_variant MELA-AU 14 100999304 100999304 single base substitution C T downstream_gene_variant MELA-AU 14 100999595 100999595 single base substitution C T downstream_gene_variant MELA-AU 14 100999910 100999910 single base substitution C T downstream_gene_variant MELA-AU 14 101000029 101000029 single base substitution C T downstream_gene_variant MELA-AU 14 101000707 101000707 single base substitution G A downstream_gene_variant MELA-AU 14 101001291 101001291 single base substitution G A downstream_gene_variant ORCA-IN 14 100840197 100840197 single base substitution G A upstream_gene_variant ORCA-IN 14 100849885 100849885 single base substitution C T intron_variant ORCA-IN 14 100863945 100863945 single base substitution G A intron_variant ORCA-IN 14 100868093 100868093 single base substitution C A intron_variant ORCA-IN 14 100889373 100889373 single base substitution G A intron_variant ORCA-IN 14 100931804 100931804 single base substitution T G intron_variant ORCA-IN 14 100964594 100964594 single base substitution C T intron_variant ORCA-IN 14 100969314 100969315 multiple base substitution (>=2bp and <=200bp) CG GT intron_variant ORCA-IN 14 100969314 100969315 multiple base substitution (>=2bp and <=200bp) CG GT upstream_gene_variant ORCA-IN 14 100981341 100981341 single base substitution C A intron_variant ORCA-IN 14 100983165 100983165 single base substitution C G intron_variant ORCA-IN 14 100988374 100988374 single base substitution C G intron_variant ORCA-IN 14 100988374 100988374 single base substitution C G upstream_gene_variant ORCA-IN 14 100990582 100990582 single base substitution C T intron_variant ORCA-IN 14 100990582 100990582 single base substitution C T upstream_gene_variant OV-AU 14 100843888 100843888 single base substitution C G intron_variant OV-AU 14 100843888 100843888 single base substitution C G upstream_gene_variant OV-AU 14 100846279 100846279 single base substitution A T intron_variant OV-AU 14 100846279 100846279 single base substitution A T upstream_gene_variant OV-AU 14 100854061 100854061 single base substitution C T intron_variant OV-AU 14 100869880 100869880 single base substitution C T intron_variant OV-AU 14 100873875 100873875 single base substitution A T intron_variant OV-AU 14 100878165 100878165 single base substitution G A intron_variant OV-AU 14 100883269 100883269 single base substitution G T intron_variant OV-AU 14 100889242 100889242 single base substitution G A intron_variant OV-AU 14 100890264 100890264 single base substitution T C intron_variant OV-AU 14 100893968 100893968 single base substitution C T intron_variant OV-AU 14 100895258 100895258 single base substitution C G intron_variant OV-AU 14 100916021 100916021 single base substitution C A intron_variant OV-AU 14 100920245 100920245 single base substitution G C intron_variant OV-AU 14 100920783 100920783 single base substitution G A intron_variant OV-AU 14 100921930 100921930 single base substitution A T downstream_gene_variant OV-AU 14 100921930 100921930 single base substitution A T intron_variant OV-AU 14 100927887 100927887 single base substitution G A intron_variant OV-AU 14 100928674 100928674 single base substitution A C intron_variant OV-AU 14 100929446 100929446 single base substitution C A intron_variant OV-AU 14 100940004 100940004 single base substitution T C intron_variant OV-AU 14 100940004 100940004 single base substitution T C upstream_gene_variant OV-AU 14 100940865 100940865 single base substitution C A intron_variant OV-AU 14 100940865 100940865 single base substitution C A upstream_gene_variant OV-AU 14 100941180 100941180 single base substitution G A intron_variant OV-AU 14 100941180 100941180 single base substitution G A upstream_gene_variant OV-AU 14 100949460 100949460 single base substitution G T intron_variant OV-AU 14 100952396 100952396 single base substitution A C intron_variant OV-AU 14 100953385 100953385 single base substitution G A intron_variant OV-AU 14 100957798 100957798 single base substitution A G intron_variant OV-AU 14 100969846 100969846 single base substitution A T intron_variant OV-AU 14 100969846 100969846 single base substitution A T upstream_gene_variant OV-AU 14 100978403 100978403 single base substitution A C intron_variant OV-AU 14 100980739 100980739 single base substitution T C intron_variant OV-AU 14 100987503 100987503 single base substitution A T intron_variant OV-AU 14 100987503 100987503 single base substitution A T upstream_gene_variant OV-AU 14 100989248 100989248 single base substitution C T intron_variant OV-AU 14 100989248 100989248 single base substitution C T upstream_gene_variant OV-AU 14 100991677 100991677 single base substitution G A intron_variant OV-AU 14 100991677 100991677 single base substitution G A upstream_gene_variant OV-AU 14 100996469 100996469 single base substitution G T 3_prime_UTR_variant OV-AU 14 100996469 100996469 single base substitution G T downstream_gene_variant PACA-AU 14 100847369 100847369 single base substitution G C exon_variant PACA-AU 14 100847369 100847369 single base substitution G C intron_variant PACA-AU 14 100847369 100847369 single base substitution G C missense_variant Q36H 108G>C PACA-AU 14 100847369 100847369 single base substitution G C upstream_gene_variant PACA-AU 14 100848445 100848445 single base substitution C T intron_variant PACA-AU 14 100848445 100848445 single base substitution C T missense_variant A3V 8C>T PACA-AU 14 100849459 100849459 single base substitution G A intron_variant PACA-AU 14 100858742 100858742 single base substitution G A intron_variant PACA-AU 14 100871898 100871898 single base substitution A G intron_variant PACA-AU 14 100872639 100872639 single base substitution T C intron_variant PACA-AU 14 100872809 100872809 single base substitution A C intron_variant PACA-AU 14 100883856 100883856 single base substitution C T intron_variant PACA-AU 14 100884959 100884959 single base substitution C T intron_variant PACA-AU 14 100900548 100900548 single base substitution C A intron_variant PACA-AU 14 100901258 100901258 single base substitution G A intron_variant PACA-AU 14 100902254 100902254 insertion of <=200bp - T intron_variant PACA-AU 14 100922796 100922796 single base substitution A C downstream_gene_variant PACA-AU 14 100922796 100922796 single base substitution A C intron_variant PACA-AU 14 100926231 100926231 single base substitution G A downstream_gene_variant PACA-AU 14 100926231 100926231 single base substitution G A intron_variant PACA-AU 14 100926687 100926687 single base substitution G T downstream_gene_variant PACA-AU 14 100926687 100926687 single base substitution G T intron_variant PACA-AU 14 100930009 100930009 single base substitution G A intron_variant PACA-AU 14 100933974 100933974 single base substitution G A intron_variant PACA-AU 14 100934171 100934171 single base substitution C T intron_variant PACA-AU 14 100956759 100956759 single base substitution A T intron_variant PACA-AU 14 100958789 100958789 single base substitution G C intron_variant PACA-AU 14 100962199 100962199 single base substitution C T intron_variant PACA-AU 14 100965113 100965113 single base substitution T C intron_variant PACA-AU 14 100965113 100965113 single base substitution T C upstream_gene_variant PACA-AU 14 100966121 100966121 deletion of <=200bp G - intron_variant PACA-AU 14 100966121 100966121 deletion of <=200bp G - upstream_gene_variant PACA-AU 14 100970245 100970245 single base substitution T C intron_variant PACA-AU 14 100974076 100974076 single base substitution A G intron_variant PACA-AU 14 100978609 100978609 single base substitution C T intron_variant PACA-AU 14 100987542 100987542 single base substitution G C intron_variant PACA-AU 14 100987542 100987542 single base substitution G C upstream_gene_variant PACA-AU 14 100989230 100989230 single base substitution G A intron_variant PACA-AU 14 100989230 100989230 single base substitution G A upstream_gene_variant PACA-AU 14 100990132 100990132 single base substitution C T intron_variant PACA-AU 14 100990132 100990132 single base substitution C T upstream_gene_variant PACA-AU 14 100991791 100991791 deletion of <=200bp T - intron_variant PACA-AU 14 100991791 100991791 deletion of <=200bp T - upstream_gene_variant PACA-AU 14 100992901 100992902 deletion of <=200bp AG - downstream_gene_variant PACA-AU 14 100992901 100992902 deletion of <=200bp AG - intron_variant PACA-AU 14 101001305 101001305 single base substitution C T downstream_gene_variant PACA-CA 14 100838366 100838366 single base substitution C T upstream_gene_variant PACA-CA 14 100841428 100841440 deletion of <=200bp CCGCGACTGCTCA - upstream_gene_variant PACA-CA 14 100852392 100852392 single base substitution T G intron_variant PACA-CA 14 100853162 100853162 single base substitution G A intron_variant PACA-CA 14 100862908 100862908 single base substitution C A intron_variant PACA-CA 14 100864215 100864215 single base substitution G A intron_variant PACA-CA 14 100866394 100866394 deletion of <=200bp A - intron_variant PACA-CA 14 100867175 100867175 single base substitution C T intron_variant PACA-CA 14 100869500 100869500 single base substitution T A intron_variant PACA-CA 14 100869501 100869501 single base substitution T A intron_variant PACA-CA 14 100869502 100869502 single base substitution T A intron_variant PACA-CA 14 100870866 100870866 single base substitution C T intron_variant PACA-CA 14 100872576 100872576 single base substitution C A intron_variant PACA-CA 14 100882280 100882280 single base substitution G A intron_variant PACA-CA 14 100885626 100885626 single base substitution C T intron_variant PACA-CA 14 100890667 100890667 single base substitution C T intron_variant PACA-CA 14 100893693 100893693 single base substitution C T intron_variant PACA-CA 14 100896741 100896741 single base substitution C G intron_variant PACA-CA 14 100897955 100897955 single base substitution C T intron_variant PACA-CA 14 100898055 100898055 single base substitution T A intron_variant PACA-CA 14 100900192 100900192 single base substitution T C intron_variant PACA-CA 14 100900193 100900193 single base substitution T A intron_variant PACA-CA 14 100900352 100900352 single base substitution C T intron_variant PACA-CA 14 100916344 100916344 single base substitution T C intron_variant PACA-CA 14 100919398 100919398 single base substitution T C intron_variant PACA-CA 14 100926472 100926472 single base substitution C T downstream_gene_variant PACA-CA 14 100926472 100926472 single base substitution C T intron_variant PACA-CA 14 100932289 100932289 single base substitution G A intron_variant PACA-CA 14 100940682 100940682 single base substitution T G intron_variant PACA-CA 14 100940682 100940682 single base substitution T G upstream_gene_variant PACA-CA 14 100945091 100945091 single base substitution C T intron_variant PACA-CA 14 100950113 100950113 single base substitution G A intron_variant PACA-CA 14 100950352 100950352 single base substitution G A exon_variant PACA-CA 14 100950352 100950352 single base substitution G A missense_variant R331Q 992G>A PACA-CA 14 100950352 100950352 single base substitution G A missense_variant R74Q 221G>A PACA-CA 14 100954098 100954098 single base substitution A C intron_variant PACA-CA 14 100962303 100962303 single base substitution T C intron_variant PACA-CA 14 100963422 100963422 single base substitution C T intron_variant PACA-CA 14 100965194 100965194 single base substitution C T intron_variant PACA-CA 14 100965194 100965194 single base substitution C T upstream_gene_variant PACA-CA 14 100972915 100972915 insertion of <=200bp - T intron_variant PACA-CA 14 100974004 100974004 single base substitution A T intron_variant PACA-CA 14 100974819 100974819 single base substitution T G intron_variant PACA-CA 14 100976795 100976795 single base substitution G A intron_variant PACA-CA 14 100977141 100977141 single base substitution T A intron_variant PACA-CA 14 100979580 100979580 single base substitution G T intron_variant PACA-CA 14 100980374 100980374 single base substitution G A intron_variant PACA-CA 14 100985348 100985348 single base substitution G C intron_variant PACA-CA 14 100987540 100987540 single base substitution C G intron_variant PACA-CA 14 100987540 100987540 single base substitution C G upstream_gene_variant PACA-CA 14 100992901 100992902 deletion of <=200bp AG - downstream_gene_variant PACA-CA 14 100992901 100992902 deletion of <=200bp AG - intron_variant PACA-CA 14 100993187 100993187 insertion of <=200bp - ACCACCATT downstream_gene_variant PACA-CA 14 100993187 100993187 insertion of <=200bp - ACCACCATT intron_variant PACA-CA 14 100997379 100997379 single base substitution T C downstream_gene_variant PACA-CA 14 101001572 101001572 single base substitution C T downstream_gene_variant PAEN-AU 14 100891880 100891880 single base substitution G A intron_variant PAEN-AU 14 100928625 100928625 single base substitution T G intron_variant PAEN-AU 14 100937717 100937717 single base substitution C G intron_variant PAEN-AU 14 100939554 100939554 single base substitution G T intron_variant PAEN-AU 14 100939554 100939554 single base substitution G T upstream_gene_variant PAEN-AU 14 100950505 100950505 single base substitution G T intron_variant PAEN-AU 14 100958327 100958327 single base substitution G A intron_variant PAEN-AU 14 100987336 100987336 single base substitution C A intron_variant PAEN-AU 14 100987336 100987336 single base substitution C A upstream_gene_variant PAEN-IT 14 100901570 100901570 single base substitution G A intron_variant PAEN-IT 14 100925707 100925707 single base substitution G T downstream_gene_variant PAEN-IT 14 100925707 100925707 single base substitution G T intron_variant PAEN-IT 14 100939466 100939466 single base substitution G T intron_variant PAEN-IT 14 100939466 100939466 single base substitution G T upstream_gene_variant PAEN-IT 14 101000964 101000964 single base substitution G C downstream_gene_variant PBCA-DE 14 100860003 100860003 single base substitution G A intron_variant PBCA-DE 14 100868640 100868640 single base substitution C T intron_variant PBCA-DE 14 100891125 100891125 single base substitution C T intron_variant PBCA-DE 14 100900234 100900234 single base substitution G A intron_variant PBCA-DE 14 100903492 100903492 single base substitution A G intron_variant PBCA-DE 14 100931063 100931071 deletion of <=200bp CCCCTACTC - intron_variant PBCA-DE 14 100931414 100931414 single base substitution C T intron_variant PBCA-DE 14 100933584 100933584 single base substitution G T intron_variant PBCA-DE 14 100934680 100934680 single base substitution C T intron_variant PBCA-DE 14 100942223 100942224 deletion of <=200bp AT - intron_variant PBCA-DE 14 100942223 100942224 deletion of <=200bp AT - upstream_gene_variant PBCA-DE 14 100944801 100944801 single base substitution G T intron_variant PBCA-DE 14 100945687 100945687 single base substitution G C intron_variant PBCA-DE 14 100947141 100947154 deletion of <=200bp TAGGGAAATGGGGC - intron_variant PBCA-DE 14 100956328 100956328 single base substitution T C intron_variant PBCA-DE 14 100958201 100958201 single base substitution C T intron_variant PBCA-DE 14 100963164 100963165 deletion of <=200bp TC - intron_variant PBCA-DE 14 100963571 100963571 single base substitution A G intron_variant PBCA-DE 14 100977075 100977077 deletion of <=200bp AAT - intron_variant PBCA-DE 14 100985604 100985605 deletion of <=200bp GA - intron_variant PBCA-DE 14 100986237 100986237 single base substitution A G intron_variant PBCA-DE 14 100987517 100987518 deletion of <=200bp AC - intron_variant PBCA-DE 14 100987517 100987518 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 14 100988160 100988160 single base substitution T C intron_variant PBCA-DE 14 100988160 100988160 single base substitution T C upstream_gene_variant PBCA-DE 14 100991837 100991837 single base substitution G A intron_variant PBCA-DE 14 100991837 100991837 single base substitution G A upstream_gene_variant PBCA-DE 14 101000804 101000804 single base substitution C G downstream_gene_variant PRAD-CA 14 100882925 100882925 single base substitution A G intron_variant PRAD-CA 14 100886214 100886214 single base substitution G A intron_variant PRAD-CA 14 100926249 100926249 single base substitution A G downstream_gene_variant PRAD-CA 14 100926249 100926249 single base substitution A G intron_variant PRAD-CA 14 100995215 100995215 single base substitution C T downstream_gene_variant PRAD-CA 14 100995215 100995215 single base substitution C T intron_variant PRAD-CA 14 100997618 100997618 single base substitution G A downstream_gene_variant PRAD-UK 14 100844336 100844336 single base substitution T C intron_variant PRAD-UK 14 100844336 100844336 single base substitution T C upstream_gene_variant PRAD-UK 14 100848175 100848175 insertion of <=200bp - T intron_variant PRAD-UK 14 100848175 100848175 insertion of <=200bp - T upstream_gene_variant PRAD-UK 14 100851711 100851711 single base substitution G T intron_variant PRAD-UK 14 100863601 100863601 single base substitution G A intron_variant PRAD-UK 14 100871785 100871785 single base substitution A G intron_variant PRAD-UK 14 100888915 100888915 deletion of <=200bp T - intron_variant PRAD-UK 14 100894458 100894458 single base substitution C T intron_variant PRAD-UK 14 100904479 100904479 single base substitution C T intron_variant PRAD-UK 14 100913096 100913096 single base substitution G T intron_variant PRAD-UK 14 100921592 100921592 single base substitution C G 3_prime_UTR_variant PRAD-UK 14 100921592 100921592 single base substitution C G intron_variant PRAD-UK 14 100928666 100928666 single base substitution A T intron_variant PRAD-UK 14 100949249 100949249 single base substitution G A intron_variant PRAD-UK 14 100957823 100957823 single base substitution C T intron_variant PRAD-UK 14 100958478 100958478 single base substitution G A intron_variant PRAD-UK 14 100964985 100964985 single base substitution C T intron_variant PRAD-UK 14 100965259 100965259 single base substitution G A intron_variant PRAD-UK 14 100965259 100965259 single base substitution G A upstream_gene_variant PRAD-UK 14 100966524 100966524 single base substitution C A intron_variant PRAD-UK 14 100966524 100966524 single base substitution C A upstream_gene_variant PRAD-UK 14 100997555 100997555 single base substitution C T downstream_gene_variant READ-US 14 100847299 100847299 single base substitution T C exon_variant READ-US 14 100847299 100847299 single base substitution T C intron_variant READ-US 14 100847299 100847299 single base substitution T C missense_variant V13A 38T>C READ-US 14 100847299 100847299 single base substitution T C upstream_gene_variant READ-US 14 100848014 100848014 single base substitution C T exon_variant READ-US 14 100848014 100848014 single base substitution C T intron_variant READ-US 14 100848014 100848014 single base substitution C T synonymous_variant T251T 753C>T READ-US 14 100848014 100848014 single base substitution C T upstream_gene_variant RECA-EU 14 100849542 100849542 single base substitution C T intron_variant RECA-EU 14 100849622 100849622 single base substitution T G intron_variant RECA-EU 14 100869436 100869436 single base substitution T G intron_variant RECA-EU 14 100876851 100876851 single base substitution G T intron_variant RECA-EU 14 100878675 100878675 single base substitution G A intron_variant RECA-EU 14 100881092 100881092 single base substitution G A intron_variant RECA-EU 14 100892101 100892101 single base substitution T C intron_variant RECA-EU 14 100910727 100910727 single base substitution C T intron_variant RECA-EU 14 100927921 100927921 single base substitution A C intron_variant RECA-EU 14 100946738 100946738 single base substitution A T intron_variant RECA-EU 14 100951879 100951879 single base substitution C T intron_variant RECA-EU 14 100963783 100963783 single base substitution A G intron_variant RECA-EU 14 100964432 100964432 single base substitution C A intron_variant RECA-EU 14 100969469 100969469 single base substitution G T intron_variant RECA-EU 14 100969469 100969469 single base substitution G T upstream_gene_variant RECA-EU 14 100972294 100972294 single base substitution T C intron_variant RECA-EU 14 100982444 100982444 single base substitution T A intron_variant RECA-EU 14 100993395 100993395 single base substitution A G downstream_gene_variant RECA-EU 14 100993395 100993395 single base substitution A G intron_variant SKCA-BR 14 100842722 100842722 single base substitution G A upstream_gene_variant SKCA-BR 14 100843705 100843705 single base substitution C T intron_variant SKCA-BR 14 100843705 100843705 single base substitution C T upstream_gene_variant SKCA-BR 14 100844509 100844513 deletion of <=200bp ATTTT - intron_variant SKCA-BR 14 100844509 100844513 deletion of <=200bp ATTTT - upstream_gene_variant SKCA-BR 14 100846380 100846380 insertion of <=200bp - TTTTTC intron_variant SKCA-BR 14 100846380 100846380 insertion of <=200bp - TTTTTC upstream_gene_variant SKCA-BR 14 100848671 100848671 single base substitution G A intron_variant SKCA-BR 14 100852014 100852014 single base substitution C T intron_variant SKCA-BR 14 100857989 100857990 deletion of <=200bp TA - intron_variant SKCA-BR 14 100860407 100860407 single base substitution C T intron_variant SKCA-BR 14 100861253 100861253 single base substitution T G intron_variant SKCA-BR 14 100862871 100862871 single base substitution C T intron_variant SKCA-BR 14 100864225 100864225 single base substitution G A intron_variant SKCA-BR 14 100867109 100867109 single base substitution C T intron_variant SKCA-BR 14 100867543 100867543 single base substitution T C intron_variant SKCA-BR 14 100867554 100867554 single base substitution G C intron_variant SKCA-BR 14 100871195 100871195 single base substitution C T intron_variant SKCA-BR 14 100883806 100883806 single base substitution A C intron_variant SKCA-BR 14 100884282 100884282 insertion of <=200bp - CT intron_variant SKCA-BR 14 100885103 100885103 single base substitution C G intron_variant SKCA-BR 14 100886649 100886649 insertion of <=200bp - AT intron_variant SKCA-BR 14 100888361 100888361 single base substitution C T intron_variant SKCA-BR 14 100891559 100891559 single base substitution C T intron_variant SKCA-BR 14 100893935 100893935 single base substitution T G intron_variant SKCA-BR 14 100893965 100893965 single base substitution T G intron_variant SKCA-BR 14 100894444 100894444 single base substitution C G intron_variant SKCA-BR 14 100895253 100895253 single base substitution T C intron_variant SKCA-BR 14 100895490 100895490 single base substitution C T intron_variant SKCA-BR 14 100896905 100896905 single base substitution A G intron_variant SKCA-BR 14 100899130 100899130 single base substitution C T intron_variant SKCA-BR 14 100909781 100909781 single base substitution A G intron_variant SKCA-BR 14 100917852 100917852 single base substitution T G intron_variant SKCA-BR 14 100922664 100922664 single base substitution C T downstream_gene_variant SKCA-BR 14 100922664 100922664 single base substitution C T intron_variant SKCA-BR 14 100923021 100923021 single base substitution C T downstream_gene_variant SKCA-BR 14 100923021 100923021 single base substitution C T intron_variant SKCA-BR 14 100925006 100925006 single base substitution G A downstream_gene_variant SKCA-BR 14 100925006 100925006 single base substitution G A intron_variant SKCA-BR 14 100927172 100927172 single base substitution C T intron_variant SKCA-BR 14 100928830 100928830 single base substitution C T intron_variant SKCA-BR 14 100931701 100931701 single base substitution C T intron_variant SKCA-BR 14 100932860 100932860 single base substitution C T intron_variant SKCA-BR 14 100934553 100934553 single base substitution C A intron_variant SKCA-BR 14 100935097 100935097 single base substitution C T intron_variant SKCA-BR 14 100935222 100935222 single base substitution C T intron_variant SKCA-BR 14 100937512 100937512 single base substitution C T intron_variant SKCA-BR 14 100937893 100937893 single base substitution C T intron_variant SKCA-BR 14 100937893 100937893 single base substitution C T upstream_gene_variant SKCA-BR 14 100938433 100938433 single base substitution C T intron_variant SKCA-BR 14 100938433 100938433 single base substitution C T upstream_gene_variant SKCA-BR 14 100942429 100942429 single base substitution C T intron_variant SKCA-BR 14 100942429 100942429 single base substitution C T upstream_gene_variant SKCA-BR 14 100949963 100949963 single base substitution C T intron_variant SKCA-BR 14 100957374 100957374 single base substitution C T intron_variant SKCA-BR 14 100957621 100957621 single base substitution G A intron_variant SKCA-BR 14 100959225 100959225 single base substitution T C intron_variant SKCA-BR 14 100960541 100960541 single base substitution C G intron_variant SKCA-BR 14 100963411 100963411 single base substitution C T intron_variant SKCA-BR 14 100963613 100963613 single base substitution C T intron_variant SKCA-BR 14 100965458 100965458 single base substitution G A intron_variant SKCA-BR 14 100965458 100965458 single base substitution G A upstream_gene_variant SKCA-BR 14 100965492 100965492 single base substitution A C intron_variant SKCA-BR 14 100965492 100965492 single base substitution A C upstream_gene_variant SKCA-BR 14 100966133 100966133 single base substitution C T intron_variant SKCA-BR 14 100966133 100966133 single base substitution C T upstream_gene_variant SKCA-BR 14 100967485 100967485 single base substitution C T intron_variant SKCA-BR 14 100967485 100967485 single base substitution C T upstream_gene_variant SKCA-BR 14 100969771 100969771 single base substitution C T intron_variant SKCA-BR 14 100969771 100969771 single base substitution C T upstream_gene_variant SKCA-BR 14 100974074 100974074 single base substitution G A intron_variant SKCA-BR 14 100974421 100974421 single base substitution T C intron_variant SKCA-BR 14 100974988 100974988 single base substitution G A intron_variant SKCA-BR 14 100975732 100975732 single base substitution T G intron_variant SKCA-BR 14 100975836 100975836 single base substitution A G intron_variant SKCA-BR 14 100979489 100979489 single base substitution C T intron_variant SKCA-BR 14 100982085 100982085 single base substitution C T intron_variant SKCA-BR 14 100983907 100983907 single base substitution G A intron_variant SKCA-BR 14 100984543 100984543 single base substitution A G intron_variant SKCA-BR 14 100986068 100986068 insertion of <=200bp - AGT intron_variant SKCA-BR 14 100986432 100986434 deletion of <=200bp GTA - intron_variant SKCA-BR 14 100990605 100990605 single base substitution G A intron_variant SKCA-BR 14 100990605 100990605 single base substitution G A upstream_gene_variant SKCA-BR 14 100990957 100990957 single base substitution G A intron_variant SKCA-BR 14 100990957 100990957 single base substitution G A upstream_gene_variant SKCA-BR 14 100991400 100991400 single base substitution T C intron_variant SKCA-BR 14 100991400 100991400 single base substitution T C upstream_gene_variant SKCA-BR 14 100993123 100993123 single base substitution C T downstream_gene_variant SKCA-BR 14 100993123 100993123 single base substitution C T intron_variant SKCA-BR 14 100993224 100993224 insertion of <=200bp - CCCA downstream_gene_variant SKCA-BR 14 100993224 100993224 insertion of <=200bp - CCCA intron_variant SKCA-BR 14 100993238 100993238 single base substitution T A downstream_gene_variant SKCA-BR 14 100993238 100993238 single base substitution T A intron_variant SKCA-BR 14 100993263 100993263 single base substitution C A downstream_gene_variant SKCA-BR 14 100993263 100993263 single base substitution C A intron_variant SKCA-BR 14 100993266 100993266 single base substitution G A downstream_gene_variant SKCA-BR 14 100993266 100993266 single base substitution G A intron_variant SKCA-BR 14 100993269 100993269 single base substitution A G downstream_gene_variant SKCA-BR 14 100993269 100993269 single base substitution A G intron_variant SKCA-BR 14 100993651 100993651 single base substitution A C downstream_gene_variant SKCA-BR 14 100993651 100993651 single base substitution A C intron_variant SKCA-BR 14 100993654 100993654 single base substitution A C downstream_gene_variant SKCA-BR 14 100993654 100993654 single base substitution A C intron_variant SKCA-BR 14 100995793 100995793 single base substitution G C 3_prime_UTR_variant SKCA-BR 14 100995793 100995793 single base substitution G C downstream_gene_variant SKCA-BR 14 100995793 100995793 single base substitution G C intron_variant SKCA-BR 14 100998220 100998220 single base substitution C T downstream_gene_variant SKCA-BR 14 101001618 101001618 single base substitution C T downstream_gene_variant SKCM-US 14 100847882 100847882 single base substitution C T exon_variant SKCM-US 14 100847882 100847882 single base substitution C T intron_variant SKCM-US 14 100847882 100847882 single base substitution C T synonymous_variant A207A 621C>T SKCM-US 14 100847882 100847882 single base substitution C T upstream_gene_variant SKCM-US 14 100847981 100847981 single base substitution C T exon_variant SKCM-US 14 100847981 100847981 single base substitution C T intron_variant SKCM-US 14 100847981 100847981 single base substitution C T synonymous_variant F240F 720C>T SKCM-US 14 100847981 100847981 single base substitution C T upstream_gene_variant SKCM-US 14 100934401 100934401 single base substitution C T exon_variant SKCM-US 14 100934401 100934401 single base substitution C T intron_variant SKCM-US 14 100934401 100934401 single base substitution C T missense_variant S289F 866C>T SKCM-US 14 100934401 100934401 single base substitution C T missense_variant S32F 95C>T SKCM-US 14 100934432 100934432 single base substitution G A exon_variant SKCM-US 14 100934432 100934432 single base substitution G A intron_variant SKCM-US 14 100934432 100934432 single base substitution G A synonymous_variant R299R 897G>A SKCM-US 14 100934432 100934432 single base substitution G A synonymous_variant R42R 126G>A SKCM-US 14 100934477 100934477 single base substitution C T exon_variant SKCM-US 14 100934477 100934477 single base substitution C T intron_variant SKCM-US 14 100934477 100934477 single base substitution C T synonymous_variant F314F 942C>T SKCM-US 14 100934477 100934477 single base substitution C T synonymous_variant F57F 171C>T SKCM-US 14 100950384 100950384 single base substitution C T 3_prime_UTR_variant SKCM-US 14 100950384 100950384 single base substitution C T exon_variant SKCM-US 14 100950384 100950384 single base substitution C T missense_variant H342Y 1024C>T SKCM-US 14 100950384 100950384 single base substitution C T missense_variant H85Y 253C>T SKCM-US 14 100992261 100992261 single base substitution C T 3_prime_UTR_variant SKCM-US 14 100992261 100992261 single base substitution C T downstream_gene_variant SKCM-US 14 100992261 100992261 single base substitution C T exon_variant SKCM-US 14 100992261 100992261 single base substitution C T missense_variant R129W 385C>T SKCM-US 14 100992261 100992261 single base substitution C T missense_variant R386W 1156C>T SKCM-US 14 100992261 100992261 single base substitution C T upstream_gene_variant SKCM-US 14 100992375 100992375 single base substitution C T downstream_gene_variant SKCM-US 14 100992375 100992375 single base substitution C T missense_variant H167Y 499C>T SKCM-US 14 100992375 100992375 single base substitution C T missense_variant H31Y 91C>T SKCM-US 14 100992375 100992375 single base substitution C T missense_variant H424Y 1270C>T SKCM-US 14 100992375 100992375 single base substitution C T splice_region_variant SKCM-US 14 100995455 100995455 single base substitution C T 3_prime_UTR_variant SKCM-US 14 100995455 100995455 single base substitution C T downstream_gene_variant SKCM-US 14 100995455 100995455 single base substitution C T exon_variant SKCM-US 14 100995455 100995455 single base substitution C T synonymous_variant F184F 552C>T SKCM-US 14 100995455 100995455 single base substitution C T synonymous_variant F441F 1323C>T SKCM-US 14 100995455 100995455 single base substitution C T synonymous_variant F48F 144C>T SKCM-US 14 100996263 100996263 single base substitution G A 3_prime_UTR_variant SKCM-US 14 100996263 100996263 single base substitution G A downstream_gene_variant SKCM-US 14 100996263 100996263 single base substitution G A exon_variant SKCM-US 14 100996263 100996263 single base substitution G A missense_variant R250Q 749G>A SKCM-US 14 100996263 100996263 single base substitution G A missense_variant R507Q 1520G>A SKCM-US 14 100996330 100996330 single base substitution C T 3_prime_UTR_variant SKCM-US 14 100996330 100996330 single base substitution C T downstream_gene_variant SKCM-US 14 100996330 100996330 single base substitution C T exon_variant SKCM-US 14 100996330 100996330 single base substitution C T synonymous_variant S272S 816C>T SKCM-US 14 100996330 100996330 single base substitution C T synonymous_variant S529S 1587C>T SKCM-US 14 100996347 100996347 single base substitution C T 3_prime_UTR_variant SKCM-US 14 100996347 100996347 single base substitution C T downstream_gene_variant SKCM-US 14 100996347 100996347 single base substitution C T exon_variant SKCM-US 14 100996347 100996347 single base substitution C T missense_variant S278F 833C>T SKCM-US 14 100996347 100996347 single base substitution C T missense_variant S535F 1604C>T STAD-US 14 100934422 100934422 single base substitution G T exon_variant STAD-US 14 100934422 100934422 single base substitution G T intron_variant STAD-US 14 100934422 100934422 single base substitution G T missense_variant R296L 887G>T STAD-US 14 100934422 100934422 single base substitution G T missense_variant R39L 116G>T STAD-US 14 100950346 100950346 single base substitution G T exon_variant STAD-US 14 100950346 100950346 single base substitution G T missense_variant S329I 986G>T STAD-US 14 100950346 100950346 single base substitution G T missense_variant S72I 215G>T STAD-US 14 100992293 100992293 single base substitution C T 3_prime_UTR_variant STAD-US 14 100992293 100992293 single base substitution C T downstream_gene_variant STAD-US 14 100992293 100992293 single base substitution C T exon_variant STAD-US 14 100992293 100992293 single base substitution C T synonymous_variant D139D 417C>T STAD-US 14 100992293 100992293 single base substitution C T synonymous_variant D396D 1188C>T STAD-US 14 100992293 100992293 single base substitution C T synonymous_variant D3D 9C>T STAD-US 14 100992378 100992378 single base substitution G A downstream_gene_variant STAD-US 14 100992378 100992378 single base substitution G A splice_donor_variant STAD-US 14 100995488 100995488 single base substitution T C 3_prime_UTR_variant STAD-US 14 100995488 100995488 single base substitution T C downstream_gene_variant STAD-US 14 100995488 100995488 single base substitution T C exon_variant STAD-US 14 100995488 100995488 single base substitution T C synonymous_variant L195L 585T>C STAD-US 14 100995488 100995488 single base substitution T C synonymous_variant L452L 1356T>C STAD-US 14 100995488 100995488 single base substitution T C synonymous_variant L59L 177T>C STAD-US 14 100996336 100996336 single base substitution C T 3_prime_UTR_variant STAD-US 14 100996336 100996336 single base substitution C T downstream_gene_variant STAD-US 14 100996336 100996336 single base substitution C T exon_variant STAD-US 14 100996336 100996336 single base substitution C T synonymous_variant L274L 822C>T STAD-US 14 100996336 100996336 single base substitution C T synonymous_variant L531L 1593C>T THCA-SA 14 100996220 100996220 single base substitution G A 3_prime_UTR_variant THCA-SA 14 100996220 100996220 single base substitution G A downstream_gene_variant THCA-SA 14 100996220 100996220 single base substitution G A exon_variant THCA-SA 14 100996220 100996220 single base substitution G A missense_variant A236T 706G>A THCA-SA 14 100996220 100996220 single base substitution G A missense_variant A493T 1477G>A UCEC-US 14 100847362 100847362 single base substitution G A exon_variant UCEC-US 14 100847362 100847362 single base substitution G A intron_variant UCEC-US 14 100847362 100847362 single base substitution G A missense_variant G34D 101G>A UCEC-US 14 100847362 100847362 single base substitution G A upstream_gene_variant UCEC-US 14 100934370 100934370 single base substitution G A exon_variant UCEC-US 14 100934370 100934370 single base substitution G A intron_variant UCEC-US 14 100934370 100934370 single base substitution G A missense_variant V22M 64G>A UCEC-US 14 100934370 100934370 single base substitution G A missense_variant V279M 835G>A UCEC-US 14 100934379 100934379 single base substitution G A exon_variant UCEC-US 14 100934379 100934379 single base substitution G A intron_variant UCEC-US 14 100934379 100934379 single base substitution G A missense_variant G25R 73G>A UCEC-US 14 100934379 100934379 single base substitution G A missense_variant G282R 844G>A UCEC-US 14 100992272 100992272 single base substitution C T 3_prime_UTR_variant UCEC-US 14 100992272 100992272 single base substitution C T downstream_gene_variant UCEC-US 14 100992272 100992272 single base substitution C T exon_variant UCEC-US 14 100992272 100992272 single base substitution C T synonymous_variant S132S 396C>T UCEC-US 14 100992272 100992272 single base substitution C T synonymous_variant S389S 1167C>T UCEC-US 14 100992272 100992272 single base substitution C T upstream_gene_variant UCEC-US 14 100992294 100992294 single base substitution G A 3_prime_UTR_variant UCEC-US 14 100992294 100992294 single base substitution G A downstream_gene_variant UCEC-US 14 100992294 100992294 single base substitution G A exon_variant UCEC-US 14 100992294 100992294 single base substitution G A missense_variant A140T 418G>A UCEC-US 14 100992294 100992294 single base substitution G A missense_variant A397T 1189G>A UCEC-US 14 100992294 100992294 single base substitution G A missense_variant A4T 10G>A UCEC-US 14 100995449 100995449 single base substitution C T 3_prime_UTR_variant UCEC-US 14 100995449 100995449 single base substitution C T downstream_gene_variant UCEC-US 14 100995449 100995449 single base substitution C T exon_variant UCEC-US 14 100995449 100995449 single base substitution C T synonymous_variant P182P 546C>T UCEC-US 14 100995449 100995449 single base substitution C T synonymous_variant P439P 1317C>T UCEC-US 14 100995449 100995449 single base substitution C T synonymous_variant P46P 138C>T UCEC-US 14 100995528 100995528 single base substitution C T 3_prime_UTR_variant UCEC-US 14 100995528 100995528 single base substitution C T downstream_gene_variant UCEC-US 14 100995528 100995528 single base substitution C T exon_variant UCEC-US 14 100995528 100995528 single base substitution C T missense_variant R209C 625C>T UCEC-US 14 100995528 100995528 single base substitution C T missense_variant R466C 1396C>T UCEC-US 14 100995528 100995528 single base substitution C T missense_variant R73C 217C>T UCEC-US 14 100996220 100996220 single base substitution G A 3_prime_UTR_variant UCEC-US 14 100996220 100996220 single base substitution G A downstream_gene_variant UCEC-US 14 100996220 100996220 single base substitution G A exon_variant UCEC-US 14 100996220 100996220 single base substitution G A missense_variant A236T 706G>A UCEC-US 14 100996220 100996220 single base substitution G A missense_variant A493T 1477G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHC205T COSM3667611 c.145G>A p.D49N Substitution - Missense 14:100381069-100381069 + TCGA-G4-6317-01 COSM1368232 c.882A>C p.A294A Substitution - coding silent 14:100468080-100468080 + CSCC-6-T COSM4460082 c.1152C>T p.F384F Substitution - coding silent 14:100525920-100525920 + CSCC-7-T COSM4512515 c.905C>T p.P302L Substitution - Missense 14:100468103-100468103 + HCC33T COSM1607324 c.362A>G p.H121R Substitution - Missense 14:100381286-100381286 + Pat_63_A COSM5847562 c.1378C>T p.R460W Substitution - Missense 14:100529173-100529173 + ESCC_120 COSM4969255 c.887G>A p.R296Q Substitution - Missense 14:100468085-100468085 + TCGA-D7-A4YV-01 COSM4049078 c.1188C>T p.D396D Substitution - coding silent 14:100525956-100525956 + 06-P2007 COSM4577684 c.706C>T p.R236W Substitution - Missense 14:100381630-100381630 + PT41 COSM5924625 c.631C>T p.L211F Substitution - Missense 14:100381555-100381555 + TCGA-AM-5820-01 COSM432668 c.1569T>C p.Y523Y Substitution - coding silent 14:100529975-100529975 + 2492729 COSM5727365 c.1203C>T p.D401D Substitution - coding silent 14:100525971-100525971 + YULAN COSM1707884 c.1586C>T p.S529F Substitution - Missense 14:100529992-100529992 + HCC151 COSM3706117 c.501A>G p.K167K Substitution - coding silent 14:100381425-100381425 + sysucc-311T COSM5478628 c.366T>C p.V122V Substitution - coding silent 14:100381290-100381290 + TCGA-EI-6917-01 COSM3419625 c.38T>C p.V13A Substitution - Missense 14:100380962-100380962 + TCGA-G4-6588-01 COSM1371974 c.371C>T p.A124V Substitution - Missense 14:100381295-100381295 + TCGA-CG-5721-01 COSM4049082 c.1356T>C p.L452L Substitution - coding silent 14:100529151-100529151 + LIM1215 COSM4243323 c.916C>T p.R306C Substitution - Missense 14:100468114-100468114 + SH-1537 COSM5018520 c.808G>T p.D270Y Substitution - Missense 14:100381732-100381732 + TCGA-AP-A0LI-01 COSM949304 c.1167C>T p.S389S Substitution - coding silent 14:100525935-100525935 + TCGA-AG-A002-01 COSM264686 c.417C>A p.L139L Substitution - coding silent 14:100381341-100381341 + YUKAT COSM5381842 c.628C>T p.P210S Substitution - Missense 14:100381552-100381552 + TCGA-AG-A02X-01 COSM5075149 c.278G>A p.S93N Substitution - Missense 14:100381202-100381202 + 8061185 COSM3386412 c.108G>C p.Q36H Substitution - Missense 14:100381032-100381032 + TCGA-FW-A3R5-06 COSM3885622 c.621C>T p.A207A Substitution - coding silent 14:100381545-100381545 + 134427 COSM326872 c.1406G>A p.G469E Substitution - Missense 14:100529201-100529201 + T3724 COSM2261902 c.1214G>A p.R405H Substitution - Missense 14:100525982-100525982 + T2197 COSM4740918 c.1576G>A p.V526M Substitution - Missense 14:100529982-100529982 + TCGA-D1-A15X-01 COSM949303 c.844G>A p.G282R Substitution - Missense 14:100468042-100468042 + T2969 COSM1740112 c.917G>A p.R306H Substitution - Missense 14:100468115-100468115 + PD3945a COSM3664733 c.1171T>A p.F391I Substitution - Missense 14:100525939-100525939 + TCGA-37-3789-01 COSM697097 c.657G>T p.E219D Substitution - Missense 14:100381581-100381581 + T2269 COSM4740913 c.559T>C p.L187L Substitution - coding silent 14:100381483-100381483 + 2521262 COSM5892248 c.1402G>A p.E468K Substitution - Missense 14:100529197-100529197 + ME009T COSM223730 c.1480G>A p.D494N Substitution - Missense 14:100529886-100529886 + TCGA-AP-A056-01 COSM949306 c.1317C>T p.P439P Substitution - coding silent 14:100529112-100529112 + 35M COSM5583042 c.331G>A p.E111K Substitution - Missense 14:100381255-100381255 + T3658 COSM4740914 c.604delC p.P203fs*23 Deletion - Frameshift 14:100381528-100381528 + tumor_4142267 COSM3356656 c.819C>T p.F273F Substitution - coding silent 14:100381743-100381743 + TCGA-AP-A0LM-01 COSM949308 c.1477G>A p.A493T Substitution - Missense 14:100529883-100529883 + TCGA-EE-A2MR-06 COSM3493778 c.866C>T p.S289F Substitution - Missense 14:100468064-100468064 + SJMB008 COSM255516 c.974C>A p.T325N Substitution - Missense 14:100483997-100483997 + TCGA-BH-A0HF-01 COSM551910 c.214G>A p.D72N Substitution - Missense 14:100381138-100381138 + TCGA-BR-6452-01 COSM4049076 c.986G>T p.S329I Substitution - Missense 14:100484009-100484009 + 587256 COSM1232566 c.1393C>T p.R465W Substitution - Missense 14:100529188-100529188 + SC_9019 COSM5558949 c.632T>G p.L211R Substitution - Missense 14:100381556-100381556 + PD24190a COSM949305 c.1189G>A p.A397T Substitution - Missense 14:100525957-100525957 + TCGA-EE-A3JA-06 COSM3493780 c.1156C>T p.R386W Substitution - Missense 14:100525924-100525924 + TCGA-BS-A0UA-01 COSM949303 c.844G>A p.G282R Substitution - Missense 14:100468042-100468042 + TCGA-A6-6781-01 COSM1368235 c.1264_1265insT p.H424fs*45 Insertion - Frameshift 14:100526032-100526033 + TCGA-FW-A3R5-06 COSM3885624 c.1024C>T p.H342Y Substitution - Missense 14:100484047-100484047 + YUKSI COSM5381841 c.276C>T p.P92P Substitution - coding silent 14:100381200-100381200 + TCGA-BR-A4QL-01 COSM4049080 c.1272+1G>A p.? Unknown 14:100526041-100526041 + SNUH_G76_S1 COSM432668 c.1569T>C p.Y523Y Substitution - coding silent 14:100529975-100529975 + 9227_T COSM5039759 c.640G>A p.G214S Substitution - Missense 14:100381564-100381564 + ESCC_BICR_024T COSM5440864 c.550C>T p.R184W Substitution - Missense 14:100381474-100381474 + ESO-0292 COSM1241895 c.610G>A p.A204T Substitution - Missense 14:100381534-100381534 + T1154 COSM4740916 c.1083G>T p.W361C Substitution - Missense 14:100484106-100484106 + TCGA-AA-3662-01 COSM432668 c.1569T>C p.Y523Y Substitution - coding silent 14:100529975-100529975 + TCGA-AF-5654-01 COSM1563012 c.753C>T p.T251T Substitution - coding silent 14:100381677-100381677 + TCGA-B0-5694-01 COSM469660 c.1489G>T p.V497F Substitution - Missense 14:100529895-100529895 + CN-AML-NR-08-Dx COSM3999149 c.446A>G p.H149R Substitution - Missense 14:100381370-100381370 + TCGA-AZ-4315-01 COSM1368234 c.1044C>A p.I348I Substitution - coding silent 14:100484067-100484067 + TCGA-EE-A2GR-06 COSM3493784 c.1587C>T p.S529S Substitution - coding silent 14:100529993-100529993 + HCC33 COSM1607324 c.362A>G p.H121R Substitution - Missense 14:100381286-100381286 + TCGA-B0-5119-01 COSM469658 c.228T>A p.Y76* Substitution - Nonsense 14:100381152-100381152 + TCGA-BR-6566-01 COSM4049074 c.887G>T p.R296L Substitution - Missense 14:100468085-100468085 + KPOPBR-03-T COSM5965000 c.1508G>A p.R503H Substitution - Missense 14:100529914-100529914 + TCGA-18-4086-01 COSM697096 c.1036C>T p.H346Y Substitution - Missense 14:100484059-100484059 + C106 COSM4616207 c.312A>G p.Q104Q Substitution - coding silent 14:100381236-100381236 + TCGA-B0-5703-01 COSM469659 c.926G>A p.S309N Substitution - Missense 14:100468124-100468124 + CHC205T COSM3667611 c.145G>A p.D49N Substitution - Missense 14:100381069-100381069 + RKO COSM2261902 c.1214G>A p.R405H Substitution - Missense 14:100525982-100525982 + GC_304T-GC_304N COSM4772824 c.1188C>A p.D396E Substitution - Missense 14:100525956-100525956 + TCGA-G4-6302-01 COSM3689933 c.886C>T p.R296W Substitution - Missense 14:100468084-100468084 + SJMB008 COSM255516 c.974C>A p.T325N Substitution - Missense 14:100483997-100483997 + TCGA-AX-A0J1-01 COSM949301 c.101G>A p.G34D Substitution - Missense 14:100381025-100381025 + Pat_66_A COSM5847560 c.904C>T p.P302S Substitution - Missense 14:100468102-100468102 + TCGA-AZ-4315-01 COSM1368233 c.942C>T p.F314F Substitution - coding silent 14:100468140-100468140 + 2171661 COSM4423027 c.227A>G p.Y76C Substitution - Missense 14:100381151-100381151 + HCC151T COSM3706117 c.501A>G p.K167K Substitution - coding silent 14:100381425-100381425 + CHC1595T COSM4951173 c.1110A>T p.R370S Substitution - Missense 14:100525878-100525878 + TCGA-EE-A2MR-06 COSM3493783 c.1520G>A p.R507Q Substitution - Missense 14:100529926-100529926 + TCGA-AG-3892-01 COSM258364 c.42G>A p.A14A Substitution - coding silent 14:100380966-100380966 + TCGA-GN-A26A-06 COSM3493779 c.897G>A p.R299R Substitution - coding silent 14:100468095-100468095 + TCGA-EE-A2GO-06 COSM3493785 c.1604C>T p.S535F Substitution - Missense 14:100530010-100530010 + PTC-14C COSM4147815 c.706C>A p.R236R Substitution - coding silent 14:100381630-100381630 + 587220 COSM949307 c.1396C>T p.R466C Substitution - Missense 14:100529191-100529191 + DN15001 COSM5962164 c.1067C>G p.S356C Substitution - Missense 14:100484090-100484090 + T578 COSM223730 c.1480G>A p.D494N Substitution - Missense 14:100529886-100529886 + SNU-175 COSM697095 c.1397G>A p.R466H Substitution - Missense 14:100529192-100529192 + TCGA-D1-A103-01 COSM949302 c.835G>A p.V279M Substitution - Missense 14:100468033-100468033 + TCGA-FS-A1ZZ-06 COSM3493782 c.1323C>T p.F441F Substitution - coding silent 14:100529118-100529118 + CHC1595T COSM4951173 c.1110A>T p.R370S Substitution - Missense 14:100525878-100525878 + ESCC-243T COSM3936405 c.286C>A p.L96I Substitution - Missense 14:100381210-100381210 + TCGA-AR-A2LL-01 COSM3814236 c.685T>C p.Y229H Substitution - Missense 14:100381609-100381609 + TCGA-A6-2683-01 COSM291241 c.655G>C p.E219Q Substitution - Missense 14:100381579-100381579 + LOVO COSM2261911 c.1629G>A p.W543* Substitution - Nonsense 14:100530035-100530035 + TCGA-HU-8602-01 COSM2261910 c.1593C>T p.L531L Substitution - coding silent 14:100529999-100529999 + BD57T COSM5510711 c.1379G>A p.R460Q Substitution - Missense 14:100529174-100529174 + PD3945a COSM3664733 c.1171T>A p.F391I Substitution - Missense 14:100525939-100525939 + CN-AML-NR-28-Dx COSM5424854 c.127G>A p.A43T Substitution - Missense 14:100381051-100381051 + TCGA-FR-A69P-06 COSM3493781 c.1270C>T p.H424Y Substitution - Missense 14:100526038-100526038 + SNUH_G45_S1 COSM3999149 c.446A>G p.H149R Substitution - Missense 14:100381370-100381370 + 3N08-VS-3T08 COSM4979009 c.1534C>T p.Q512* Substitution - Nonsense 14:100529940-100529940 + SJHGG017_D COSM4969255 c.887G>A p.R296Q Substitution - Missense 14:100468085-100468085 + CN-AML-28-T COSM5424854 c.127G>A p.A43T Substitution - Missense 14:100381051-100381051 + MINO COSM1740112 c.917G>A p.R306H Substitution - Missense 14:100468115-100468115 + TCGA-EE-A3AC-06 COSM3493777 c.720C>T p.F240F Substitution - coding silent 14:100381644-100381644 + UM-SCC-2 COSM4599398 c.757C>T p.Q253* Substitution - Nonsense 14:100381681-100381681 + TCGA-AP-A0LM-01 COSM949307 c.1396C>T p.R466C Substitution - Missense 14:100529191-100529191 + TCGA-EE-A2MR-06 COSM1368233 c.942C>T p.F314F Substitution - coding silent 14:100468140-100468140 + PCSI_0527_Pa_P_526 COSM5031893 c.992G>A p.R331Q Substitution - Missense 14:100484015-100484015 + KM12 COSM2261881 c.304G>A p.E102K Substitution - Missense 14:100381228-100381228 + TCGA-AX-A0J1-01 COSM949305 c.1189G>A p.A397T Substitution - Missense 14:100525957-100525957 + CN-AML-08-T COSM3999149 c.446A>G p.H149R Substitution - Missense 14:100381370-100381370 + LOVO COSM2261891 c.742C>T p.P248S Substitution - Missense 14:100381666-100381666 + 420 COSM4432039 c.1567T>A p.Y523N Substitution - Missense 14:100529973-100529973 + TCGA-DI-A0WH-01 COSM949303 c.844G>A p.G282R Substitution - Missense 14:100468042-100468042 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.497600 14q32.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.1102-11009A>G 14 100981198 CLL C A Missense p.P215Q c.644C>A 14 100847905 LUAD CC TT Missense p.R386W c.1155_1156delinsTT 14 100992260 CM C G Missense p.R299G c.895C>G 14 100934430 CM C T IntronicSNV . c.822+29989C>T 14 100878072 CLL C T Missense p.H149Y c.445C>T 14 100847706 CM C T Missense p.H346Y c.1036C>T 14 100950396 LUSC C T Missense p.R184W c.550C>T 14 100847811 STAD C T Missense p.R386W c.1156C>T 14 100992261 CM C T Missense p.S535F c.1604C>T 14 100996347 CM C T Missense p.T445I c.1334C>T 14 100995466 CM C T Synonymous p.F240F c.720C>T 14 100847981 CM C T Synonymous p.F273F c.819C>T 14 100848080 DLBCL C T Synonymous p.F441F c.1323C>T 14 100995455 CM C T Synonymous p.G192G c.576C>T 14 100847837 LUAD C T Synonymous p.S389S c.1167C>T 14 100992272 UCEC C T Synonymous p.Y288Y c.864C>T 14 100934399 LUAD G A Missense p.D494N c.1480G>A 14 100996223 CM G A Missense p.D72N c.214G>A 14 100847475 LUAD G A Missense p.G282R c.844G>A 14 100934379 UCEC G A Missense p.G469E c.1406G>A 14 100995538 SCLC G A Missense p.S309N c.926G>A 14 100934461 RCCC G A Synonymous p.R299R c.897G>A 14 100934432 CM G C Missense p.E219Q c.655G>C 14 100847916 COREAD G C Missense p.R296P c.887G>C 14 100934422 HNSC G - Frameshift p.G75Afs*63 c.224delG 14 100847481 RCCC G T Missense p.E219D c.657G>T 14 100847918 LUSC G T Missense p.V497F c.1489G>T 14 100996232 RCCC G T Synonymous p.R496R c.1488G>T 14 100996231 LUAD T A Nonsense p.Y76* c.228T>A 14 100847489 RCCC T C IntronicSNV . c.1102-10013T>C 14 100982194 CLL - T SpliceDonorInsertion . c.970+2dupT 14 100934507 LUAD