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 16 4731691 4731691 + Silent SNP C C T TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chr16:4731691C>T c.1272C>T c.(1270-1272)tcC>tcT p.S424S BLCA 16 4674988 4674988 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr16:4674988C>G c.27C>G c.(25-27)atC>atG p.I9M BLCA 16 4707267 4707267 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr16:4707267C>T c.464C>T c.(463-465)tCg>tTg p.S155L BLCA 16 4714751 4714751 + Silent SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 g.chr16:4714751C>T c.603C>T c.(601-603)atC>atT p.I201I BLCA 16 4714766 4714767 + In_Frame_Ins INS - - GAAGGA TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chr16:4714766_4714767insGAAGGA c.618_619insGAAGGA c.(619-621)gaa>GAAGGAgaa p.207_207E>EGE BLCA 16 4718285 4718285 + Missense_Mutation SNP C C T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr16:4718285C>T c.698C>T c.(697-699)tCt>tTt p.S233F BLCA 16 4721438 4721438 + Missense_Mutation SNP A A T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr16:4721438A>T c.773A>T c.(772-774)aAc>aTc p.N258I BLCA 16 4723507 4723507 + Missense_Mutation SNP C C A TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr16:4723507C>A c.804C>A c.(802-804)gaC>gaA p.D268E BLCA 16 4723511 4723511 + Missense_Mutation SNP G G A TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr16:4723511G>A c.808G>A c.(808-810)Gag>Aag p.E270K BLCA 16 4731656 4731656 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr16:4731656G>C c.1237G>C c.(1237-1239)Gaa>Caa p.E413Q BLCA 16 4733904 4733904 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 g.chr16:4733904G>A c.1589G>A c.(1588-1590)cGa>cAa p.R530Q BRCA 16 4715104 4715104 + Splice_Site SNP G G T TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 g.chr16:4715104G>T c.630G>T c.(628-630)gtG>gtT p.V210V BRCA 16 4723519 4723519 + Missense_Mutation SNP C C G TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr16:4723519C>G c.816C>G c.(814-816)agC>agG p.S272R CESC 16 4674988 4674988 + Missense_Mutation SNP C C G TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr16:4674988C>G c.27C>G c.(25-27)atC>atG p.I9M CESC 16 4700414 4700414 + Missense_Mutation SNP C C A TCGA-JW-A852-01A-11D-A351-09 TCGA-JW-A852-10A-01D-A351-09 g.chr16:4700414C>A c.137C>A c.(136-138)aCc>aAc p.T46N CESC 16 4731718 4731718 + Silent SNP C C T TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 g.chr16:4731718C>T c.1299C>T c.(1297-1299)atC>atT p.I433I CESC 16 4738820 4738820 + 3'UTR SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr16:4738820G>A CESC 16 4738831 4738831 + 3'UTR SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr16:4738831C>T CHOL 16 4733264 4733264 + Nonsense_Mutation SNP C C T TCGA-W5-AA2Q-01A-11D-A417-09 TCGA-W5-AA2Q-10A-01D-A41A-09 g.chr16:4733264C>T c.1522C>T c.(1522-1524)Cag>Tag p.Q508* COAD 16 4701982 4701983 + Frame_Shift_Ins INS - - C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr16:4701982_4701983insC c.226_227insC c.(226-228)gccfs p.A76fs COAD 16 4702778 4702778 + Silent SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr16:4702778C>A c.396C>A c.(394-396)atC>atA p.I132I COAD 16 4718284 4718284 + Missense_Mutation SNP T T A TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr16:4718284T>A c.697T>A c.(697-699)Tct>Act p.S233T COAD 16 4718285 4718285 + Missense_Mutation SNP C C A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr16:4718285C>A c.698C>A c.(697-699)tCt>tAt p.S233Y COAD 16 4718286 4718286 + Silent SNP T T C TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr16:4718286T>C c.699T>C c.(697-699)tcT>tcC p.S233S COAD 16 4731714 4731714 + Missense_Mutation SNP C C A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr16:4731714C>A c.1295C>A c.(1294-1296)gCt>gAt p.A432D COAD 16 4732912 4732912 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr16:4732912G>A c.1447G>A c.(1447-1449)Gca>Aca p.A483T COAD 16 4733849 4733849 + Nonsense_Mutation SNP C C T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr16:4733849C>T c.1534C>T c.(1534-1536)Cga>Tga p.R512* COAD 16 4733878 4733878 + Missense_Mutation SNP G G T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr16:4733878G>T c.1563G>T c.(1561-1563)caG>caT p.Q521H COADREAD 16 4701982 4701983 + Frame_Shift_Ins INS - - C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr16:4701982_4701983insC c.226_227insC c.(226-228)gccfs p.A76fs COADREAD 16 4702778 4702778 + Silent SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr16:4702778C>A c.396C>A c.(394-396)atC>atA p.I132I COADREAD 16 4707316 4707316 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:4707316C>A c.513C>A c.(511-513)ttC>ttA p.F171L COADREAD 16 4718284 4718284 + Missense_Mutation SNP T T A TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr16:4718284T>A c.697T>A c.(697-699)Tct>Act p.S233T COADREAD 16 4718285 4718285 + Missense_Mutation SNP C C A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr16:4718285C>A c.698C>A c.(697-699)tCt>tAt p.S233Y COADREAD 16 4718286 4718286 + Silent SNP T T C TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr16:4718286T>C c.699T>C c.(697-699)tcT>tcC p.S233S COADREAD 16 4723613 4723613 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:4723613G>A c.910G>A c.(910-912)Gac>Aac p.D304N COADREAD 16 4731714 4731714 + Missense_Mutation SNP C C A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr16:4731714C>A c.1295C>A c.(1294-1296)gCt>gAt p.A432D COADREAD 16 4732912 4732912 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr16:4732912G>A c.1447G>A c.(1447-1449)Gca>Aca p.A483T COADREAD 16 4733849 4733849 + Nonsense_Mutation SNP C C T TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr16:4733849C>T c.1534C>T c.(1534-1536)Cga>Tga p.R512* COADREAD 16 4733878 4733878 + Missense_Mutation SNP G G T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr16:4733878G>T c.1563G>T c.(1561-1563)caG>caT p.Q521H ESCA 16 4714709 4714709 + Splice_Site SNP G G A TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 g.chr16:4714709G>A c.e6-1 ESCA 16 4730035 4730035 + Missense_Mutation SNP T T G TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 g.chr16:4730035T>G c.1068T>G c.(1066-1068)tgT>tgG p.C356W GBM 16 4731589 4731589 + Silent SNP G G A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 g.chr16:4731589G>A c.1170G>A c.(1168-1170)tcG>tcA p.S390S GBM 16 4731741 4731741 + Missense_Mutation SNP G G A TCGA-41-2573-01A-01D-1495-08 TCGA-41-2573-10A-01D-1495-08 g.chr16:4731741G>A c.1322G>A c.(1321-1323)cGc>cAc p.R441H GBMLGG 16 4731589 4731589 + Silent SNP G G A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 g.chr16:4731589G>A c.1170G>A c.(1168-1170)tcG>tcA p.S390S GBMLGG 16 4731741 4731741 + Missense_Mutation SNP G G A TCGA-41-2573-01A-01D-1495-08 TCGA-41-2573-10A-01D-1495-08 g.chr16:4731741G>A c.1322G>A c.(1321-1323)cGc>cAc p.R441H GBMLGG 16 4732911 4732911 + Silent SNP C C T TCGA-HT-7604-01A-11D-2086-08 TCGA-HT-7604-10A-01D-2086-08 g.chr16:4732911C>T c.1446C>T c.(1444-1446)ggC>ggT p.G482G HNSC 16 4707252 4707253 + Frame_Shift_Ins INS - - C TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr16:4707252_4707253insC c.449_450insC c.(448-453)agccccfs p.SP150fs HNSC 16 4714767 4714767 + Nonsense_Mutation SNP G G T TCGA-HD-7229-01A-11D-2012-08 TCGA-HD-7229-10A-01D-2013-08 g.chr16:4714767G>T c.619G>T c.(619-621)Gaa>Taa p.E207* HNSC 16 4715153 4715153 + Splice_Site SNP G G T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 g.chr16:4715153G>T c.e7+1 HNSC 16 4723654 4723654 + Silent SNP G G A TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 g.chr16:4723654G>A c.951G>A c.(949-951)cgG>cgA p.R317R HNSC 16 4731639 4731639 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 g.chr16:4731639C>T c.1220C>T c.(1219-1221)tCg>tTg p.S407L HNSC 16 4731766 4731766 + Missense_Mutation SNP G G T TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 g.chr16:4731766G>T c.1347G>T c.(1345-1347)aaG>aaT p.K449N KIPAN 16 4700468 4700468 + Missense_Mutation SNP G G T TCGA-DZ-6131-01A-11D-1961-08 TCGA-DZ-6131-11A-01D-1961-08 g.chr16:4700468G>T c.191G>T c.(190-192)gGc>gTc p.G64V KIPAN 16 4721421 4721421 + Missense_Mutation SNP G G T TCGA-CJ-4875-01A-01D-1373-10 TCGA-CJ-4875-11A-01D-1373-10 g.chr16:4721421G>T c.756G>T c.(754-756)gaG>gaT p.E252D KIPAN 16 4727555 4727555 + Silent SNP G G A TCGA-B8-5549-01A-01D-1534-10 TCGA-B8-5549-10A-01D-1535-10 g.chr16:4727555G>A c.1047G>A c.(1045-1047)ctG>ctA p.L349L KIRC 16 4721421 4721421 + Missense_Mutation SNP G G T TCGA-CJ-4875-01A-01D-1373-10 TCGA-CJ-4875-11A-01D-1373-10 g.chr16:4721421G>T c.756G>T c.(754-756)gaG>gaT p.E252D KIRC 16 4727555 4727555 + Silent SNP G G A TCGA-B8-5549-01A-01D-1534-10 TCGA-B8-5549-10A-01D-1535-10 g.chr16:4727555G>A c.1047G>A c.(1045-1047)ctG>ctA p.L349L KIRP 16 4700468 4700468 + Missense_Mutation SNP G G T TCGA-DZ-6131-01A-11D-1961-08 TCGA-DZ-6131-11A-01D-1961-08 g.chr16:4700468G>T c.191G>T c.(190-192)gGc>gTc p.G64V LGG 16 4732911 4732911 + Silent SNP C C T TCGA-HT-7604-01A-11D-2086-08 TCGA-HT-7604-10A-01D-2086-08 g.chr16:4732911C>T c.1446C>T c.(1444-1446)ggC>ggT p.G482G LIHC 16 4715144 4715144 + Missense_Mutation SNP T T C TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr16:4715144T>C c.670T>C c.(670-672)Ttt>Ctt p.F224L LUAD 16 4700385 4700385 + Missense_Mutation SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr16:4700385C>G c.108C>G c.(106-108)caC>caG p.H36Q LUAD 16 4715113 4715113 + Silent SNP G G T TCGA-50-5044-01A-21D-1855-08 TCGA-50-5044-10A-01D-1855-08 g.chr16:4715113G>T c.639G>T c.(637-639)gtG>gtT p.V213V LUAD 16 4727498 4727500 + In_Frame_Del DEL GAA GAA - TCGA-55-7903-01A-11D-2167-08 TCGA-55-7903-10A-01D-2167-08 g.chr16:4727498_4727500delGAA c.990_992delGAA c.(988-993)cggaag>cgg p.K332del LUAD 16 4727537 4727537 + Silent SNP C C G TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 g.chr16:4727537C>G c.1029C>G c.(1027-1029)ccC>ccG p.P343P LUAD 16 4731568 4731568 + Silent SNP A A C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 g.chr16:4731568A>C c.1149A>C c.(1147-1149)ccA>ccC p.P383P LUAD 16 4731653 4731653 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr16:4731653G>A c.1234G>A c.(1234-1236)Gaa>Aaa p.E412K LUAD 16 4731731 4731731 + Missense_Mutation SNP G G T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr16:4731731G>T c.1312G>T c.(1312-1314)Gac>Tac p.D438Y OV 16 4700453 4700454 + Frame_Shift_Ins INS - - GCCG TCGA-23-1120-01A-02W-0484-10 TCGA-23-1120-10A-01W-0484-10 g.chr16:4700453_4700454insGCCG c.176_177insGCCG c.(175-180)gatctgfs p.DL59fs OV 16 4718285 4718285 + Missense_Mutation SNP C C T TCGA-25-2398-01A-01W-0799-08 TCGA-25-2398-10A-01W-0799-08 g.chr16:4718285C>T c.698C>T c.(697-699)tCt>tTt p.S233F PAAD 16 4732890 4732890 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:4732890C>T c.1425C>T c.(1423-1425)gaC>gaT p.D475D READ 16 4707316 4707316 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:4707316C>A c.513C>A c.(511-513)ttC>ttA p.F171L READ 16 4723613 4723613 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:4723613G>A c.910G>A c.(910-912)Gac>Aac p.D304N SKCM 16 4700391 4700391 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr16:4700391C>T c.114C>T c.(112-114)ttC>ttT p.F38F SKCM 16 4701967 4701967 + Missense_Mutation SNP C C T TCGA-D9-A1JX-06A-11D-A19A-08 TCGA-D9-A1JX-10A-01D-A19A-08 g.chr16:4701967C>T c.211C>T c.(211-213)Ccc>Tcc p.P71S SKCM 16 4701967 4701967 + Missense_Mutation SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr16:4701967C>T c.211C>T c.(211-213)Ccc>Tcc p.P71S SKCM 16 4723500 4723500 + Splice_Site SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr16:4723500C>T c.797C>T c.(796-798)cCc>cTc p.P266L SKCM 16 4723511 4723511 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr16:4723511G>A c.808G>A c.(808-810)Gag>Aag p.E270K SKCM 16 4731613 4731613 + Silent SNP C C T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr16:4731613C>T c.1194C>T c.(1192-1194)ctC>ctT p.L398L SKCM 16 4731625 4731625 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr16:4731625C>T c.1206C>T c.(1204-1206)tcC>tcT p.S402S SKCM 16 4731634 4731634 + Silent SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr16:4731634C>T c.1215C>T c.(1213-1215)atC>atT p.I405I SKCM 16 4732940 4732940 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr16:4732940C>T c.1475C>T c.(1474-1476)tCc>tTc p.S492F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 16 4674988 4674988 single base substitution C G exon_variant BLCA-US 16 4674988 4674988 single base substitution C G intron_variant BLCA-US 16 4674988 4674988 single base substitution C G missense_variant I9M 27C>G BLCA-US 16 4721438 4721438 single base substitution A T exon_variant BLCA-US 16 4721438 4721438 single base substitution A T missense_variant N140I 419A>T BLCA-US 16 4721438 4721438 single base substitution A T missense_variant N222I 665A>T BLCA-US 16 4721438 4721438 single base substitution A T missense_variant N258I 773A>T BLCA-US 16 4721438 4721438 single base substitution A T missense_variant N259I 776A>T BOCA-FR 16 4689963 4689963 single base substitution G A intron_variant BOCA-FR 16 4736007 4736007 single base substitution C T downstream_gene_variant BOCA-FR 16 4736007 4736007 single base substitution C T intron_variant BRCA-EU 16 4661684 4661684 single base substitution G C upstream_gene_variant BRCA-EU 16 4662823 4662823 single base substitution C T upstream_gene_variant BRCA-EU 16 4664809 4664809 single base substitution C T upstream_gene_variant BRCA-EU 16 4665120 4665120 single base substitution C T upstream_gene_variant BRCA-EU 16 4665134 4665134 single base substitution C T upstream_gene_variant BRCA-EU 16 4665468 4665468 single base substitution C T upstream_gene_variant BRCA-EU 16 4665751 4665751 single base substitution G C upstream_gene_variant BRCA-EU 16 4666103 4666103 single base substitution C T upstream_gene_variant BRCA-EU 16 4666104 4666104 single base substitution C G upstream_gene_variant BRCA-EU 16 4667386 4667386 single base substitution C T intron_variant BRCA-EU 16 4667391 4667391 single base substitution C G intron_variant BRCA-EU 16 4668159 4668159 single base substitution G C intron_variant BRCA-EU 16 4668428 4668428 single base substitution G A intron_variant BRCA-EU 16 4669216 4669216 single base substitution C T intron_variant BRCA-EU 16 4669344 4669344 single base substitution G A intron_variant BRCA-EU 16 4670834 4670834 single base substitution G C intron_variant BRCA-EU 16 4670834 4670834 single base substitution G C upstream_gene_variant BRCA-EU 16 4672411 4672411 single base substitution T C intron_variant BRCA-EU 16 4672411 4672411 single base substitution T C upstream_gene_variant BRCA-EU 16 4672412 4672412 single base substitution G A intron_variant BRCA-EU 16 4672412 4672412 single base substitution G A upstream_gene_variant BRCA-EU 16 4672700 4672700 single base substitution C G intron_variant BRCA-EU 16 4672700 4672700 single base substitution C G upstream_gene_variant BRCA-EU 16 4674737 4674737 single base substitution C A intron_variant BRCA-EU 16 4674737 4674737 single base substitution C A upstream_gene_variant BRCA-EU 16 4675353 4675353 single base substitution G A intron_variant BRCA-EU 16 4677785 4677785 single base substitution C T intron_variant BRCA-EU 16 4677791 4677791 deletion of <=200bp A - intron_variant BRCA-EU 16 4679505 4679505 single base substitution G T intron_variant BRCA-EU 16 4679686 4679686 single base substitution G C intron_variant BRCA-EU 16 4679688 4679688 single base substitution C A intron_variant BRCA-EU 16 4680728 4680728 single base substitution G A intron_variant BRCA-EU 16 4681019 4681019 single base substitution C A intron_variant BRCA-EU 16 4683233 4683233 single base substitution C G intron_variant BRCA-EU 16 4683342 4683344 deletion of <=200bp ATC - intron_variant BRCA-EU 16 4683717 4683717 single base substitution A T intron_variant BRCA-EU 16 4683718 4683718 single base substitution A T intron_variant BRCA-EU 16 4685132 4685132 single base substitution G A intron_variant BRCA-EU 16 4685300 4685300 deletion of <=200bp C - intron_variant BRCA-EU 16 4685645 4685645 deletion of <=200bp T - intron_variant BRCA-EU 16 4688465 4688465 single base substitution C G intron_variant BRCA-EU 16 4688477 4688477 deletion of <=200bp T - intron_variant BRCA-EU 16 4688526 4688526 single base substitution G T intron_variant BRCA-EU 16 4692606 4692606 single base substitution T A intron_variant BRCA-EU 16 4693079 4693079 single base substitution C A intron_variant BRCA-EU 16 4693438 4693438 single base substitution C G intron_variant BRCA-EU 16 4694128 4694128 single base substitution A G intron_variant BRCA-EU 16 4694577 4694577 single base substitution C A intron_variant BRCA-EU 16 4695354 4695354 single base substitution G A intron_variant BRCA-EU 16 4696022 4696022 single base substitution C G intron_variant BRCA-EU 16 4696022 4696022 single base substitution C G upstream_gene_variant BRCA-EU 16 4697174 4697174 single base substitution C T intron_variant BRCA-EU 16 4697174 4697174 single base substitution C T upstream_gene_variant BRCA-EU 16 4697854 4697854 single base substitution C A intron_variant BRCA-EU 16 4697854 4697854 single base substitution C A upstream_gene_variant BRCA-EU 16 4698188 4698188 single base substitution A T intron_variant BRCA-EU 16 4698188 4698188 single base substitution A T upstream_gene_variant BRCA-EU 16 4698344 4698344 single base substitution G A intron_variant BRCA-EU 16 4698344 4698344 single base substitution G A upstream_gene_variant BRCA-EU 16 4698450 4698450 single base substitution G C intron_variant BRCA-EU 16 4698450 4698450 single base substitution G C upstream_gene_variant BRCA-EU 16 4698617 4698617 single base substitution G C intron_variant BRCA-EU 16 4698617 4698617 single base substitution G C upstream_gene_variant BRCA-EU 16 4698703 4698703 single base substitution G A intron_variant BRCA-EU 16 4698703 4698703 single base substitution G A upstream_gene_variant BRCA-EU 16 4698774 4698774 single base substitution G A intron_variant BRCA-EU 16 4698774 4698774 single base substitution G A upstream_gene_variant BRCA-EU 16 4698924 4698924 single base substitution C T intron_variant BRCA-EU 16 4698924 4698924 single base substitution C T upstream_gene_variant BRCA-EU 16 4700980 4700980 single base substitution C T intron_variant BRCA-EU 16 4708447 4708447 single base substitution G A downstream_gene_variant BRCA-EU 16 4708447 4708447 single base substitution G A intron_variant BRCA-EU 16 4709125 4709125 single base substitution C T downstream_gene_variant BRCA-EU 16 4709125 4709125 single base substitution C T intron_variant BRCA-EU 16 4709125 4709125 single base substitution C T upstream_gene_variant BRCA-EU 16 4710685 4710685 single base substitution C G downstream_gene_variant BRCA-EU 16 4710685 4710685 single base substitution C G intron_variant BRCA-EU 16 4710685 4710685 single base substitution C G upstream_gene_variant BRCA-EU 16 4710799 4710799 single base substitution A C downstream_gene_variant BRCA-EU 16 4710799 4710799 single base substitution A C intron_variant BRCA-EU 16 4710799 4710799 single base substitution A C upstream_gene_variant BRCA-EU 16 4715274 4715274 single base substitution C A intron_variant BRCA-EU 16 4715274 4715274 single base substitution C A upstream_gene_variant BRCA-EU 16 4718179 4718179 single base substitution G T intron_variant BRCA-EU 16 4718179 4718179 single base substitution G T upstream_gene_variant BRCA-EU 16 4719219 4719219 single base substitution G C exon_variant BRCA-EU 16 4719219 4719219 single base substitution G C intron_variant BRCA-EU 16 4721740 4721740 single base substitution G A intron_variant BRCA-EU 16 4723783 4723783 single base substitution C G downstream_gene_variant BRCA-EU 16 4723783 4723783 single base substitution C G intron_variant BRCA-EU 16 4723830 4723830 single base substitution G A downstream_gene_variant BRCA-EU 16 4723830 4723830 single base substitution G A intron_variant BRCA-EU 16 4724758 4724758 single base substitution C T downstream_gene_variant BRCA-EU 16 4724758 4724758 single base substitution C T intron_variant BRCA-EU 16 4725850 4725850 single base substitution C T downstream_gene_variant BRCA-EU 16 4725850 4725850 single base substitution C T intron_variant BRCA-EU 16 4725850 4725850 single base substitution C T upstream_gene_variant BRCA-EU 16 4726496 4726496 single base substitution G C downstream_gene_variant BRCA-EU 16 4726496 4726496 single base substitution G C intron_variant BRCA-EU 16 4726496 4726496 single base substitution G C upstream_gene_variant BRCA-EU 16 4726877 4726877 single base substitution G A downstream_gene_variant BRCA-EU 16 4726877 4726877 single base substitution G A intron_variant BRCA-EU 16 4726877 4726877 single base substitution G A upstream_gene_variant BRCA-EU 16 4727077 4727077 single base substitution C T downstream_gene_variant BRCA-EU 16 4727077 4727077 single base substitution C T exon_variant BRCA-EU 16 4727077 4727077 single base substitution C T intron_variant BRCA-EU 16 4727077 4727077 single base substitution C T upstream_gene_variant BRCA-EU 16 4728513 4728513 insertion of <=200bp - A downstream_gene_variant BRCA-EU 16 4728513 4728513 insertion of <=200bp - A intron_variant BRCA-EU 16 4728513 4728513 insertion of <=200bp - A upstream_gene_variant BRCA-EU 16 4728777 4728777 single base substitution C T downstream_gene_variant BRCA-EU 16 4728777 4728777 single base substitution C T intron_variant BRCA-EU 16 4728777 4728777 single base substitution C T upstream_gene_variant BRCA-EU 16 4729673 4729673 single base substitution G C downstream_gene_variant BRCA-EU 16 4729673 4729673 single base substitution G C intron_variant BRCA-EU 16 4729673 4729673 single base substitution G C upstream_gene_variant BRCA-EU 16 4730325 4730325 single base substitution G C downstream_gene_variant BRCA-EU 16 4730325 4730325 single base substitution G C intron_variant BRCA-EU 16 4730325 4730325 single base substitution G C upstream_gene_variant BRCA-EU 16 4730435 4730435 single base substitution G A downstream_gene_variant BRCA-EU 16 4730435 4730435 single base substitution G A exon_variant BRCA-EU 16 4730435 4730435 single base substitution G A intron_variant BRCA-EU 16 4730435 4730435 single base substitution G A upstream_gene_variant BRCA-EU 16 4730439 4730439 single base substitution C T downstream_gene_variant BRCA-EU 16 4730439 4730439 single base substitution C T exon_variant BRCA-EU 16 4730439 4730439 single base substitution C T intron_variant BRCA-EU 16 4730439 4730439 single base substitution C T upstream_gene_variant BRCA-EU 16 4731211 4731211 single base substitution T C downstream_gene_variant BRCA-EU 16 4731211 4731211 single base substitution T C intron_variant BRCA-EU 16 4731211 4731211 single base substitution T C upstream_gene_variant BRCA-EU 16 4731733 4731733 single base substitution C G 3_prime_UTR_variant BRCA-EU 16 4731733 4731733 single base substitution C G downstream_gene_variant BRCA-EU 16 4731733 4731733 single base substitution C G exon_variant BRCA-EU 16 4731733 4731733 single base substitution C G missense_variant D416E 1248C>G BRCA-EU 16 4731733 4731733 single base substitution C G missense_variant D417E 1251C>G BRCA-EU 16 4731733 4731733 single base substitution C G missense_variant D438E 1314C>G BRCA-EU 16 4731733 4731733 single base substitution C G missense_variant D477E 1431C>G BRCA-EU 16 4732138 4732138 single base substitution G T downstream_gene_variant BRCA-EU 16 4732138 4732138 single base substitution G T intron_variant BRCA-EU 16 4732585 4732585 single base substitution C G downstream_gene_variant BRCA-EU 16 4732585 4732585 single base substitution C G intron_variant BRCA-EU 16 4732884 4732884 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 4732884 4732884 single base substitution C T downstream_gene_variant BRCA-EU 16 4732884 4732884 single base substitution C T exon_variant BRCA-EU 16 4732884 4732884 single base substitution C T synonymous_variant D451D 1353C>T BRCA-EU 16 4732884 4732884 single base substitution C T synonymous_variant D452D 1356C>T BRCA-EU 16 4732884 4732884 single base substitution C T synonymous_variant D473D 1419C>T BRCA-EU 16 4732884 4732884 single base substitution C T synonymous_variant D512D 1536C>T BRCA-EU 16 4733389 4733389 single base substitution G T downstream_gene_variant BRCA-EU 16 4733389 4733389 single base substitution G T intron_variant BRCA-EU 16 4736773 4736773 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 4736773 4736773 single base substitution C T downstream_gene_variant BRCA-EU 16 4736773 4736773 single base substitution C T intron_variant BRCA-EU 16 4738726 4738726 single base substitution G C 3_prime_UTR_variant BRCA-EU 16 4738726 4738726 single base substitution G C downstream_gene_variant BRCA-EU 16 4738726 4738726 single base substitution G C intron_variant BRCA-EU 16 4739859 4739859 single base substitution C G 3_prime_UTR_variant BRCA-EU 16 4739859 4739859 single base substitution C G downstream_gene_variant BRCA-EU 16 4741599 4741599 single base substitution G A downstream_gene_variant BRCA-EU 16 4741931 4741931 single base substitution C A downstream_gene_variant BRCA-EU 16 4742218 4742218 single base substitution C A downstream_gene_variant BRCA-EU 16 4743227 4743227 single base substitution A C downstream_gene_variant BRCA-EU 16 4743910 4743910 single base substitution T C downstream_gene_variant BRCA-EU 16 4744261 4744261 single base substitution C G downstream_gene_variant BRCA-EU 16 4744816 4744816 single base substitution T A downstream_gene_variant BRCA-EU 16 4745750 4745750 deletion of <=200bp G - downstream_gene_variant BRCA-FR 16 4661840 4661840 single base substitution T C upstream_gene_variant BRCA-FR 16 4664809 4664809 single base substitution C T upstream_gene_variant BRCA-FR 16 4665751 4665751 single base substitution G C upstream_gene_variant BRCA-FR 16 4669216 4669216 single base substitution C T intron_variant BRCA-FR 16 4670834 4670834 single base substitution G C intron_variant BRCA-FR 16 4670834 4670834 single base substitution G C upstream_gene_variant BRCA-FR 16 4674737 4674737 single base substitution C A intron_variant BRCA-FR 16 4674737 4674737 single base substitution C A upstream_gene_variant BRCA-FR 16 4683717 4683717 single base substitution A T intron_variant BRCA-FR 16 4683718 4683718 single base substitution A T intron_variant BRCA-FR 16 4688465 4688465 single base substitution C G intron_variant BRCA-FR 16 4693979 4693979 single base substitution G A intron_variant BRCA-FR 16 4714373 4714373 single base substitution G A intron_variant BRCA-FR 16 4714373 4714373 single base substitution G A upstream_gene_variant BRCA-FR 16 4721740 4721740 single base substitution G A intron_variant BRCA-FR 16 4724758 4724758 single base substitution C T downstream_gene_variant BRCA-FR 16 4724758 4724758 single base substitution C T intron_variant BRCA-FR 16 4726496 4726496 single base substitution G C downstream_gene_variant BRCA-FR 16 4726496 4726496 single base substitution G C intron_variant BRCA-FR 16 4726496 4726496 single base substitution G C upstream_gene_variant BRCA-FR 16 4730439 4730439 single base substitution C T downstream_gene_variant BRCA-FR 16 4730439 4730439 single base substitution C T exon_variant BRCA-FR 16 4730439 4730439 single base substitution C T intron_variant BRCA-FR 16 4730439 4730439 single base substitution C T upstream_gene_variant BRCA-FR 16 4731733 4731733 single base substitution C G 3_prime_UTR_variant BRCA-FR 16 4731733 4731733 single base substitution C G downstream_gene_variant BRCA-FR 16 4731733 4731733 single base substitution C G exon_variant BRCA-FR 16 4731733 4731733 single base substitution C G missense_variant D416E 1248C>G BRCA-FR 16 4731733 4731733 single base substitution C G missense_variant D417E 1251C>G BRCA-FR 16 4731733 4731733 single base substitution C G missense_variant D438E 1314C>G BRCA-FR 16 4731733 4731733 single base substitution C G missense_variant D477E 1431C>G BRCA-FR 16 4735823 4735823 single base substitution C T downstream_gene_variant BRCA-FR 16 4735823 4735823 single base substitution C T intron_variant BRCA-FR 16 4738951 4738951 single base substitution G A 3_prime_UTR_variant BRCA-FR 16 4738951 4738951 single base substitution G A downstream_gene_variant BRCA-FR 16 4742218 4742218 single base substitution C A downstream_gene_variant BRCA-UK 16 4668159 4668159 single base substitution G C intron_variant BRCA-UK 16 4672330 4672330 single base substitution C T intron_variant BRCA-UK 16 4672330 4672330 single base substitution C T upstream_gene_variant BRCA-UK 16 4672384 4672384 single base substitution C T intron_variant BRCA-UK 16 4672384 4672384 single base substitution C T upstream_gene_variant BRCA-UK 16 4673122 4673122 single base substitution G A intron_variant BRCA-UK 16 4673122 4673122 single base substitution G A upstream_gene_variant BRCA-UK 16 4694577 4694577 single base substitution C A intron_variant BRCA-US 16 4715104 4715104 single base substitution G T intron_variant BRCA-US 16 4715104 4715104 single base substitution G T splice_region_variant BRCA-US 16 4715104 4715104 single base substitution G T synonymous_variant V174V 522G>T BRCA-US 16 4715104 4715104 single base substitution G T synonymous_variant V211V 633G>T BRCA-US 16 4715104 4715104 single base substitution G T upstream_gene_variant BRCA-US 16 4723519 4723519 single base substitution C G exon_variant BRCA-US 16 4723519 4723519 single base substitution C G missense_variant S154R 462C>G BRCA-US 16 4723519 4723519 single base substitution C G missense_variant S236R 708C>G BRCA-US 16 4723519 4723519 single base substitution C G missense_variant S272R 816C>G BRCA-US 16 4723519 4723519 single base substitution C G missense_variant S273R 819C>G BRCA-US 16 4723519 4723519 single base substitution C G missense_variant S311R 933C>G BRCA-US 16 4744071 4744071 single base substitution G C downstream_gene_variant BTCA-JP 16 4700354 4700354 deletion of <=200bp T - intron_variant BTCA-JP 16 4700354 4700354 deletion of <=200bp T - upstream_gene_variant BTCA-JP 16 4700414 4700414 deletion of <=200bp C - exon_variant BTCA-JP 16 4700414 4700414 deletion of <=200bp C - frameshift_variant T46 BTCA-JP 16 4700414 4700414 deletion of <=200bp C - frameshift_variant T5 BTCA-JP 16 4700414 4700414 deletion of <=200bp C - frameshift_variant T8 BTCA-JP 16 4700414 4700414 deletion of <=200bp C - frameshift_variant T9 BTCA-JP 16 4718140 4718140 single base substitution C T intron_variant BTCA-JP 16 4718140 4718140 single base substitution C T upstream_gene_variant BTCA-JP 16 4718338 4718338 single base substitution G A intron_variant BTCA-JP 16 4718338 4718338 single base substitution G A upstream_gene_variant BTCA-JP 16 4718463 4718463 single base substitution T C intron_variant BTCA-JP 16 4718463 4718463 single base substitution T C upstream_gene_variant BTCA-JP 16 4721521 4721521 single base substitution G A intron_variant BTCA-JP 16 4731378 4731378 single base substitution G C downstream_gene_variant BTCA-JP 16 4731378 4731378 single base substitution G C exon_variant BTCA-JP 16 4731378 4731378 single base substitution G C intron_variant BTCA-JP 16 4732897 4732897 deletion of <=200bp C - 3_prime_UTR_variant BTCA-JP 16 4732897 4732897 deletion of <=200bp C - downstream_gene_variant BTCA-JP 16 4732897 4732897 deletion of <=200bp C - exon_variant BTCA-JP 16 4732897 4732897 deletion of <=200bp C - frameshift_variant P456 BTCA-JP 16 4732897 4732897 deletion of <=200bp C - frameshift_variant P457 BTCA-JP 16 4732897 4732897 deletion of <=200bp C - frameshift_variant P478 BTCA-JP 16 4732897 4732897 deletion of <=200bp C - frameshift_variant P517 BTCA-JP 16 4733197 4733197 single base substitution C T downstream_gene_variant BTCA-JP 16 4733197 4733197 single base substitution C T intron_variant BTCA-JP 16 4736331 4736331 single base substitution G T 3_prime_UTR_variant BTCA-JP 16 4736331 4736331 single base substitution G T downstream_gene_variant BTCA-JP 16 4736331 4736331 single base substitution G T intron_variant CESC-US 16 4674988 4674988 single base substitution C G exon_variant CESC-US 16 4674988 4674988 single base substitution C G intron_variant CESC-US 16 4674988 4674988 single base substitution C G missense_variant I9M 27C>G CESC-US 16 4700414 4700414 single base substitution C A exon_variant CESC-US 16 4700414 4700414 single base substitution C A missense_variant T46N 137C>A CESC-US 16 4700414 4700414 single base substitution C A missense_variant T5N 14C>A CESC-US 16 4700414 4700414 single base substitution C A missense_variant T8N 23C>A CESC-US 16 4700414 4700414 single base substitution C A missense_variant T9N 26C>A CESC-US 16 4730186 4730186 single base substitution G A downstream_gene_variant CESC-US 16 4730186 4730186 single base substitution G A exon_variant CESC-US 16 4730186 4730186 single base substitution G A intron_variant CESC-US 16 4730186 4730186 single base substitution G A upstream_gene_variant CESC-US 16 4731718 4731718 single base substitution C T 3_prime_UTR_variant CESC-US 16 4731718 4731718 single base substitution C T downstream_gene_variant CESC-US 16 4731718 4731718 single base substitution C T exon_variant CESC-US 16 4731718 4731718 single base substitution C T synonymous_variant I411I 1233C>T CESC-US 16 4731718 4731718 single base substitution C T synonymous_variant I412I 1236C>T CESC-US 16 4731718 4731718 single base substitution C T synonymous_variant I433I 1299C>T CESC-US 16 4731718 4731718 single base substitution C T synonymous_variant I472I 1416C>T CESC-US 16 4738820 4738820 single base substitution G A 3_prime_UTR_variant CESC-US 16 4738820 4738820 single base substitution G A downstream_gene_variant CESC-US 16 4738820 4738820 single base substitution G A missense_variant A526T 1576G>A CESC-US 16 4738820 4738820 single base substitution G A missense_variant A548T 1642G>A CESC-US 16 4738820 4738820 single base substitution G A missense_variant A587T 1759G>A CESC-US 16 4738831 4738831 single base substitution C T 3_prime_UTR_variant CESC-US 16 4738831 4738831 single base substitution C T downstream_gene_variant CESC-US 16 4738831 4738831 single base substitution C T synonymous_variant L529L 1587C>T CESC-US 16 4738831 4738831 single base substitution C T synonymous_variant L551L 1653C>T CESC-US 16 4738831 4738831 single base substitution C T synonymous_variant L590L 1770C>T CESC-US 16 4744305 4744305 single base substitution G C downstream_gene_variant CESC-US 16 4745112 4745112 single base substitution G A downstream_gene_variant CLLE-ES 16 4706895 4706895 single base substitution T A intron_variant CLLE-ES 16 4730091 4730091 single base substitution G A downstream_gene_variant CLLE-ES 16 4730091 4730091 single base substitution G A exon_variant CLLE-ES 16 4730091 4730091 single base substitution G A intron_variant CLLE-ES 16 4730091 4730091 single base substitution G A missense_variant R375K 1124G>A CLLE-ES 16 4730091 4730091 single base substitution G A missense_variant R414K 1241G>A CLLE-ES 16 4730091 4730091 single base substitution G A upstream_gene_variant COAD-US 16 4701982 4701982 insertion of <=200bp - C exon_variant COAD-US 16 4701982 4701982 insertion of <=200bp - C frameshift_variant A35R? COAD-US 16 4701982 4701982 insertion of <=200bp - C frameshift_variant A38R? COAD-US 16 4701982 4701982 insertion of <=200bp - C frameshift_variant A39R? COAD-US 16 4701982 4701982 insertion of <=200bp - C frameshift_variant A76R? COAD-US 16 4702778 4702778 single base substitution C A exon_variant COAD-US 16 4702778 4702778 single base substitution C A synonymous_variant I132I 396C>A COAD-US 16 4702778 4702778 single base substitution C A synonymous_variant I91I 273C>A COAD-US 16 4702778 4702778 single base substitution C A synonymous_variant I94I 282C>A COAD-US 16 4702778 4702778 single base substitution C A synonymous_variant I95I 285C>A COAD-US 16 4723561 4723561 single base substitution G T downstream_gene_variant COAD-US 16 4723561 4723561 single base substitution G T exon_variant COAD-US 16 4723561 4723561 single base substitution G T synonymous_variant R250R 750G>T COAD-US 16 4723561 4723561 single base substitution G T synonymous_variant R286R 858G>T COAD-US 16 4723561 4723561 single base substitution G T synonymous_variant R287R 861G>T COAD-US 16 4723561 4723561 single base substitution G T synonymous_variant R325R 975G>T COAD-US 16 4731714 4731714 single base substitution C A 3_prime_UTR_variant COAD-US 16 4731714 4731714 single base substitution C A downstream_gene_variant COAD-US 16 4731714 4731714 single base substitution C A exon_variant COAD-US 16 4731714 4731714 single base substitution C A missense_variant A410D 1229C>A COAD-US 16 4731714 4731714 single base substitution C A missense_variant A411D 1232C>A COAD-US 16 4731714 4731714 single base substitution C A missense_variant A432D 1295C>A COAD-US 16 4731714 4731714 single base substitution C A missense_variant A471D 1412C>A COAD-US 16 4732912 4732912 single base substitution G A 3_prime_UTR_variant COAD-US 16 4732912 4732912 single base substitution G A downstream_gene_variant COAD-US 16 4732912 4732912 single base substitution G A exon_variant COAD-US 16 4732912 4732912 single base substitution G A missense_variant A461T 1381G>A COAD-US 16 4732912 4732912 single base substitution G A missense_variant A462T 1384G>A COAD-US 16 4732912 4732912 single base substitution G A missense_variant A483T 1447G>A COAD-US 16 4732912 4732912 single base substitution G A missense_variant A522T 1564G>A COAD-US 16 4733849 4733849 single base substitution C T 3_prime_UTR_variant COAD-US 16 4733849 4733849 single base substitution C T downstream_gene_variant COAD-US 16 4733849 4733849 single base substitution C T exon_variant COAD-US 16 4733849 4733849 single base substitution C T stop_gained R490* 1468C>T COAD-US 16 4733849 4733849 single base substitution C T stop_gained R491* 1471C>T COAD-US 16 4733849 4733849 single base substitution C T stop_gained R512* 1534C>T COAD-US 16 4733849 4733849 single base substitution C T stop_gained R551* 1651C>T COAD-US 16 4733878 4733878 single base substitution G T 3_prime_UTR_variant COAD-US 16 4733878 4733878 single base substitution G T downstream_gene_variant COAD-US 16 4733878 4733878 single base substitution G T exon_variant COAD-US 16 4733878 4733878 single base substitution G T missense_variant Q499H 1497G>T COAD-US 16 4733878 4733878 single base substitution G T missense_variant Q500H 1500G>T COAD-US 16 4733878 4733878 single base substitution G T missense_variant Q521H 1563G>T COAD-US 16 4733878 4733878 single base substitution G T missense_variant Q560H 1680G>T COAD-US 16 4745140 4745142 deletion of <=200bp AGA - downstream_gene_variant COCA-CN 16 4672251 4672251 single base substitution G C intron_variant COCA-CN 16 4672251 4672251 single base substitution G C upstream_gene_variant COCA-CN 16 4700346 4700346 single base substitution G T intron_variant COCA-CN 16 4700346 4700346 single base substitution G T upstream_gene_variant COCA-CN 16 4707158 4707158 single base substitution C T intron_variant COCA-CN 16 4714517 4714517 single base substitution A G exon_variant COCA-CN 16 4714517 4714517 single base substitution A G intron_variant COCA-CN 16 4714517 4714517 single base substitution A G upstream_gene_variant COCA-CN 16 4714782 4714782 single base substitution T A intron_variant COCA-CN 16 4714782 4714782 single base substitution T A splice_region_variant COCA-CN 16 4714782 4714782 single base substitution T A upstream_gene_variant COCA-CN 16 4718147 4718147 single base substitution C T intron_variant COCA-CN 16 4718147 4718147 single base substitution C T upstream_gene_variant COCA-CN 16 4723552 4723552 single base substitution C T downstream_gene_variant COCA-CN 16 4723552 4723552 single base substitution C T exon_variant COCA-CN 16 4723552 4723552 single base substitution C T synonymous_variant S165S 495C>T COCA-CN 16 4723552 4723552 single base substitution C T synonymous_variant S247S 741C>T COCA-CN 16 4723552 4723552 single base substitution C T synonymous_variant S283S 849C>T COCA-CN 16 4723552 4723552 single base substitution C T synonymous_variant S284S 852C>T COCA-CN 16 4723552 4723552 single base substitution C T synonymous_variant S322S 966C>T COCA-CN 16 4724602 4724602 single base substitution C T downstream_gene_variant COCA-CN 16 4724602 4724602 single base substitution C T intron_variant COCA-CN 16 4727538 4727538 single base substitution G A downstream_gene_variant COCA-CN 16 4727538 4727538 single base substitution G A exon_variant COCA-CN 16 4727538 4727538 single base substitution G A intron_variant COCA-CN 16 4727538 4727538 single base substitution G A missense_variant V308I 922G>A COCA-CN 16 4727538 4727538 single base substitution G A missense_variant V344I 1030G>A COCA-CN 16 4727538 4727538 single base substitution G A missense_variant V345I 1033G>A COCA-CN 16 4727538 4727538 single base substitution G A missense_variant V383I 1147G>A COCA-CN 16 4727538 4727538 single base substitution G A upstream_gene_variant COCA-CN 16 4732863 4732863 single base substitution T C 3_prime_UTR_variant COCA-CN 16 4732863 4732863 single base substitution T C downstream_gene_variant COCA-CN 16 4732863 4732863 single base substitution T C exon_variant COCA-CN 16 4732863 4732863 single base substitution T C synonymous_variant D444D 1332T>C COCA-CN 16 4732863 4732863 single base substitution T C synonymous_variant D445D 1335T>C COCA-CN 16 4732863 4732863 single base substitution T C synonymous_variant D466D 1398T>C COCA-CN 16 4732863 4732863 single base substitution T C synonymous_variant D505D 1515T>C COCA-CN 16 4732992 4732992 single base substitution C T downstream_gene_variant COCA-CN 16 4732992 4732992 single base substitution C T intron_variant EOPC-DE 16 4665107 4665107 single base substitution T C upstream_gene_variant EOPC-DE 16 4665120 4665120 single base substitution C G upstream_gene_variant EOPC-DE 16 4665155 4665155 single base substitution G A upstream_gene_variant EOPC-DE 16 4665163 4665163 single base substitution T A upstream_gene_variant EOPC-DE 16 4665303 4665303 single base substitution C T upstream_gene_variant EOPC-DE 16 4665676 4665676 single base substitution T C upstream_gene_variant EOPC-DE 16 4698307 4698307 single base substitution C G intron_variant EOPC-DE 16 4698307 4698307 single base substitution C G upstream_gene_variant EOPC-DE 16 4710839 4710839 single base substitution G A downstream_gene_variant EOPC-DE 16 4710839 4710839 single base substitution G A intron_variant EOPC-DE 16 4710839 4710839 single base substitution G A upstream_gene_variant EOPC-DE 16 4714821 4714821 single base substitution G T intron_variant EOPC-DE 16 4714821 4714821 single base substitution G T upstream_gene_variant ESAD-UK 16 4664698 4664698 single base substitution G A upstream_gene_variant ESAD-UK 16 4664809 4664809 single base substitution C T upstream_gene_variant ESAD-UK 16 4667253 4667253 insertion of <=200bp - A intron_variant ESAD-UK 16 4668543 4668543 single base substitution C A intron_variant ESAD-UK 16 4668968 4668968 single base substitution C G intron_variant ESAD-UK 16 4670432 4670432 single base substitution C T intron_variant ESAD-UK 16 4670432 4670432 single base substitution C T upstream_gene_variant ESAD-UK 16 4670438 4670438 single base substitution C T intron_variant ESAD-UK 16 4670438 4670438 single base substitution C T upstream_gene_variant ESAD-UK 16 4670565 4670565 single base substitution C T intron_variant ESAD-UK 16 4670565 4670565 single base substitution C T upstream_gene_variant ESAD-UK 16 4674240 4674240 single base substitution C T intron_variant ESAD-UK 16 4674240 4674240 single base substitution C T upstream_gene_variant ESAD-UK 16 4677364 4677364 single base substitution G C intron_variant ESAD-UK 16 4677574 4677574 single base substitution G T intron_variant ESAD-UK 16 4682646 4682646 single base substitution C T intron_variant ESAD-UK 16 4683008 4683008 single base substitution C G intron_variant ESAD-UK 16 4683481 4683481 single base substitution T G intron_variant ESAD-UK 16 4684438 4684438 single base substitution G A intron_variant ESAD-UK 16 4685205 4685205 single base substitution G T intron_variant ESAD-UK 16 4687471 4687471 single base substitution A G intron_variant ESAD-UK 16 4689080 4689080 single base substitution A T intron_variant ESAD-UK 16 4690432 4690432 single base substitution T C intron_variant ESAD-UK 16 4691221 4691221 single base substitution A G intron_variant ESAD-UK 16 4691272 4691272 single base substitution C T intron_variant ESAD-UK 16 4692750 4692750 single base substitution G A intron_variant ESAD-UK 16 4692959 4692959 single base substitution T A intron_variant ESAD-UK 16 4698874 4698874 single base substitution T C intron_variant ESAD-UK 16 4698874 4698874 single base substitution T C upstream_gene_variant ESAD-UK 16 4699790 4699790 single base substitution G A intron_variant ESAD-UK 16 4699790 4699790 single base substitution G A upstream_gene_variant ESAD-UK 16 4700260 4700260 single base substitution C G intron_variant ESAD-UK 16 4700260 4700260 single base substitution C G upstream_gene_variant ESAD-UK 16 4702043 4702043 single base substitution G A exon_variant ESAD-UK 16 4702043 4702043 single base substitution G A missense_variant R55Q 164G>A ESAD-UK 16 4702043 4702043 single base substitution G A missense_variant R58Q 173G>A ESAD-UK 16 4702043 4702043 single base substitution G A missense_variant R59Q 176G>A ESAD-UK 16 4702043 4702043 single base substitution G A missense_variant R96Q 287G>A ESAD-UK 16 4702707 4702707 single base substitution G A exon_variant ESAD-UK 16 4702707 4702707 single base substitution G A missense_variant E109K 325G>A ESAD-UK 16 4702707 4702707 single base substitution G A missense_variant E68K 202G>A ESAD-UK 16 4702707 4702707 single base substitution G A missense_variant E71K 211G>A ESAD-UK 16 4702707 4702707 single base substitution G A missense_variant E72K 214G>A ESAD-UK 16 4708764 4708764 single base substitution G A downstream_gene_variant ESAD-UK 16 4708764 4708764 single base substitution G A intron_variant ESAD-UK 16 4709489 4709489 single base substitution G A downstream_gene_variant ESAD-UK 16 4709489 4709489 single base substitution G A intron_variant ESAD-UK 16 4709489 4709489 single base substitution G A upstream_gene_variant ESAD-UK 16 4713678 4713678 single base substitution G C intron_variant ESAD-UK 16 4713678 4713678 single base substitution G C upstream_gene_variant ESAD-UK 16 4717716 4717716 single base substitution G A intron_variant ESAD-UK 16 4717716 4717716 single base substitution G A upstream_gene_variant ESAD-UK 16 4717925 4717925 single base substitution G T intron_variant ESAD-UK 16 4717925 4717925 single base substitution G T upstream_gene_variant ESAD-UK 16 4718429 4718429 single base substitution C T intron_variant ESAD-UK 16 4718429 4718429 single base substitution C T upstream_gene_variant ESAD-UK 16 4718469 4718469 single base substitution C T intron_variant ESAD-UK 16 4718469 4718469 single base substitution C T upstream_gene_variant ESAD-UK 16 4721522 4721522 single base substitution G A intron_variant ESAD-UK 16 4724305 4724305 single base substitution T A downstream_gene_variant ESAD-UK 16 4724305 4724305 single base substitution T A intron_variant ESAD-UK 16 4733100 4733100 single base substitution T C downstream_gene_variant ESAD-UK 16 4733100 4733100 single base substitution T C intron_variant ESAD-UK 16 4736861 4736861 single base substitution A G 3_prime_UTR_variant ESAD-UK 16 4736861 4736861 single base substitution A G downstream_gene_variant ESAD-UK 16 4736861 4736861 single base substitution A G intron_variant ESAD-UK 16 4743415 4743415 single base substitution G C downstream_gene_variant ESAD-UK 16 4743954 4743954 single base substitution G A downstream_gene_variant ESCA-CN 16 4736343 4736343 single base substitution C T 3_prime_UTR_variant ESCA-CN 16 4736343 4736343 single base substitution C T downstream_gene_variant ESCA-CN 16 4736343 4736343 single base substitution C T intron_variant ESCA-CN 16 4744175 4744175 single base substitution T A downstream_gene_variant GBM-US 16 4731741 4731741 single base substitution G A 3_prime_UTR_variant GBM-US 16 4731741 4731741 single base substitution G A downstream_gene_variant GBM-US 16 4731741 4731741 single base substitution G A exon_variant GBM-US 16 4731741 4731741 single base substitution G A missense_variant R419H 1256G>A GBM-US 16 4731741 4731741 single base substitution G A missense_variant R420H 1259G>A GBM-US 16 4731741 4731741 single base substitution G A missense_variant R441H 1322G>A GBM-US 16 4731741 4731741 single base substitution G A missense_variant R480H 1439G>A KIRC-US 16 4721421 4721421 single base substitution G T exon_variant KIRC-US 16 4721421 4721421 single base substitution G T missense_variant E134D 402G>T KIRC-US 16 4721421 4721421 single base substitution G T missense_variant E216D 648G>T KIRC-US 16 4721421 4721421 single base substitution G T missense_variant E252D 756G>T KIRC-US 16 4721421 4721421 single base substitution G T missense_variant E253D 759G>T KIRC-US 16 4727555 4727555 single base substitution G A downstream_gene_variant KIRC-US 16 4727555 4727555 single base substitution G A exon_variant KIRC-US 16 4727555 4727555 single base substitution G A intron_variant KIRC-US 16 4727555 4727555 single base substitution G A synonymous_variant L313L 939G>A KIRC-US 16 4727555 4727555 single base substitution G A synonymous_variant L349L 1047G>A KIRC-US 16 4727555 4727555 single base substitution G A synonymous_variant L350L 1050G>A KIRC-US 16 4727555 4727555 single base substitution G A synonymous_variant L388L 1164G>A KIRC-US 16 4727555 4727555 single base substitution G A upstream_gene_variant KIRP-US 16 4700468 4700468 single base substitution G T exon_variant KIRP-US 16 4700468 4700468 single base substitution G T missense_variant G23V 68G>T KIRP-US 16 4700468 4700468 single base substitution G T missense_variant G26V 77G>T KIRP-US 16 4700468 4700468 single base substitution G T missense_variant G27V 80G>T KIRP-US 16 4700468 4700468 single base substitution G T missense_variant G64V 191G>T KIRP-US 16 4731570 4731570 single base substitution C A 3_prime_UTR_variant KIRP-US 16 4731570 4731570 single base substitution C A downstream_gene_variant KIRP-US 16 4731570 4731570 single base substitution C A exon_variant KIRP-US 16 4731570 4731570 single base substitution C A missense_variant P362H 1085C>A KIRP-US 16 4731570 4731570 single base substitution C A missense_variant P363H 1088C>A KIRP-US 16 4731570 4731570 single base substitution C A missense_variant P384H 1151C>A KIRP-US 16 4731570 4731570 single base substitution C A missense_variant P423H 1268C>A LAML-KR 16 4672360 4672360 single base substitution G C intron_variant LAML-KR 16 4672360 4672360 single base substitution G C upstream_gene_variant LAML-KR 16 4672368 4672368 single base substitution T G intron_variant LAML-KR 16 4672368 4672368 single base substitution T G upstream_gene_variant LAML-KR 16 4672447 4672447 single base substitution A G intron_variant LAML-KR 16 4672447 4672447 single base substitution A G upstream_gene_variant LAML-KR 16 4678080 4678080 single base substitution C A intron_variant LAML-KR 16 4692067 4692067 single base substitution T G intron_variant LAML-KR 16 4698259 4698259 single base substitution C G intron_variant LAML-KR 16 4698259 4698259 single base substitution C G upstream_gene_variant LAML-KR 16 4698865 4698865 single base substitution C G intron_variant LAML-KR 16 4698865 4698865 single base substitution C G upstream_gene_variant LAML-KR 16 4721468 4721468 single base substitution T C splice_region_variant LAML-KR 16 4723451 4723451 single base substitution A G intron_variant LAML-KR 16 4732958 4732958 single base substitution C G downstream_gene_variant LAML-KR 16 4732958 4732958 single base substitution C G intron_variant LGG-US 16 4732911 4732911 single base substitution C T 3_prime_UTR_variant LGG-US 16 4732911 4732911 single base substitution C T downstream_gene_variant LGG-US 16 4732911 4732911 single base substitution C T exon_variant LGG-US 16 4732911 4732911 single base substitution C T synonymous_variant G460G 1380C>T LGG-US 16 4732911 4732911 single base substitution C T synonymous_variant G461G 1383C>T LGG-US 16 4732911 4732911 single base substitution C T synonymous_variant G482G 1446C>T LGG-US 16 4732911 4732911 single base substitution C T synonymous_variant G521G 1563C>T LIAD-FR 16 4731735 4731735 single base substitution G A 3_prime_UTR_variant LIAD-FR 16 4731735 4731735 single base substitution G A downstream_gene_variant LIAD-FR 16 4731735 4731735 single base substitution G A exon_variant LIAD-FR 16 4731735 4731735 single base substitution G A missense_variant S417N 1250G>A LIAD-FR 16 4731735 4731735 single base substitution G A missense_variant S418N 1253G>A LIAD-FR 16 4731735 4731735 single base substitution G A missense_variant S439N 1316G>A LIAD-FR 16 4731735 4731735 single base substitution G A missense_variant S478N 1433G>A LICA-FR 16 4679428 4679428 single base substitution C T intron_variant LICA-FR 16 4692130 4692130 insertion of <=200bp - T intron_variant LICA-FR 16 4700814 4700814 single base substitution A G intron_variant LICA-FR 16 4713366 4713366 single base substitution G T intron_variant LICA-FR 16 4713366 4713366 single base substitution G T upstream_gene_variant LICA-FR 16 4714734 4714734 single base substitution G T exon_variant LICA-FR 16 4714734 4714734 single base substitution G T intron_variant LICA-FR 16 4714734 4714734 single base substitution G T missense_variant V159L 475G>T LICA-FR 16 4714734 4714734 single base substitution G T missense_variant V196L 586G>T LICA-FR 16 4714734 4714734 single base substitution G T upstream_gene_variant LICA-FR 16 4715131 4715131 single base substitution G T exon_variant LICA-FR 16 4715131 4715131 single base substitution G T intron_variant LICA-FR 16 4715131 4715131 single base substitution G T synonymous_variant V183V 549G>T LICA-FR 16 4715131 4715131 single base substitution G T synonymous_variant V219V 657G>T LICA-FR 16 4715131 4715131 single base substitution G T synonymous_variant V220V 660G>T LICA-FR 16 4715131 4715131 single base substitution G T upstream_gene_variant LICA-FR 16 4715165 4715165 single base substitution T A intron_variant LICA-FR 16 4715165 4715165 single base substitution T A upstream_gene_variant LICA-FR 16 4724505 4724505 single base substitution G T downstream_gene_variant LICA-FR 16 4724505 4724505 single base substitution G T intron_variant LICA-FR 16 4731735 4731735 single base substitution G A 3_prime_UTR_variant LICA-FR 16 4731735 4731735 single base substitution G A downstream_gene_variant LICA-FR 16 4731735 4731735 single base substitution G A exon_variant LICA-FR 16 4731735 4731735 single base substitution G A missense_variant S417N 1250G>A LICA-FR 16 4731735 4731735 single base substitution G A missense_variant S418N 1253G>A LICA-FR 16 4731735 4731735 single base substitution G A missense_variant S439N 1316G>A LICA-FR 16 4731735 4731735 single base substitution G A missense_variant S478N 1433G>A LICA-FR 16 4733898 4733898 single base substitution G A 3_prime_UTR_variant LICA-FR 16 4733898 4733898 single base substitution G A downstream_gene_variant LICA-FR 16 4733898 4733898 single base substitution G A exon_variant LICA-FR 16 4733898 4733898 single base substitution G A missense_variant C506Y 1517G>A LICA-FR 16 4733898 4733898 single base substitution G A missense_variant C507Y 1520G>A LICA-FR 16 4733898 4733898 single base substitution G A missense_variant C528Y 1583G>A LICA-FR 16 4733898 4733898 single base substitution G A missense_variant C567Y 1700G>A LICA-FR 16 4738885 4738885 single base substitution C T 3_prime_UTR_variant LICA-FR 16 4738885 4738885 single base substitution C T downstream_gene_variant LICA-FR 16 4738885 4738885 single base substitution C T synonymous_variant S547S 1641C>T LICA-FR 16 4738885 4738885 single base substitution C T synonymous_variant S569S 1707C>T LICA-FR 16 4745251 4745251 single base substitution G A downstream_gene_variant LIHC-US 16 4715144 4715144 single base substitution T C exon_variant LIHC-US 16 4715144 4715144 single base substitution T C intron_variant LIHC-US 16 4715144 4715144 single base substitution T C missense_variant F188L 562T>C LIHC-US 16 4715144 4715144 single base substitution T C missense_variant F224L 670T>C LIHC-US 16 4715144 4715144 single base substitution T C missense_variant F225L 673T>C LIHC-US 16 4715144 4715144 single base substitution T C upstream_gene_variant LINC-JP 16 4664407 4664407 single base substitution A G upstream_gene_variant LINC-JP 16 4686291 4686291 single base substitution T C intron_variant LINC-JP 16 4694333 4694333 single base substitution A T intron_variant LINC-JP 16 4702850 4702850 single base substitution C A intron_variant LINC-JP 16 4703400 4703400 single base substitution A T intron_variant LINC-JP 16 4705105 4705105 single base substitution C G intron_variant LINC-JP 16 4714866 4714866 single base substitution A G intron_variant LINC-JP 16 4714866 4714866 single base substitution A G upstream_gene_variant LINC-JP 16 4715379 4715379 single base substitution C T intron_variant LINC-JP 16 4715379 4715379 single base substitution C T upstream_gene_variant LINC-JP 16 4717573 4717573 insertion of <=200bp - T intron_variant LINC-JP 16 4717573 4717573 insertion of <=200bp - T upstream_gene_variant LINC-JP 16 4718185 4718185 single base substitution T G intron_variant LINC-JP 16 4718185 4718185 single base substitution T G upstream_gene_variant LINC-JP 16 4719985 4719985 insertion of <=200bp - A intron_variant LINC-JP 16 4720928 4720928 single base substitution G A intron_variant LINC-JP 16 4731155 4731155 single base substitution G A downstream_gene_variant LINC-JP 16 4731155 4731155 single base substitution G A intron_variant LINC-JP 16 4731155 4731155 single base substitution G A upstream_gene_variant LINC-JP 16 4733313 4733313 single base substitution A G downstream_gene_variant LINC-JP 16 4733313 4733313 single base substitution A G intron_variant LINC-JP 16 4733431 4733431 single base substitution A G downstream_gene_variant LINC-JP 16 4733431 4733431 single base substitution A G intron_variant LINC-JP 16 4739306 4739306 single base substitution A T 3_prime_UTR_variant LINC-JP 16 4739306 4739306 single base substitution A T downstream_gene_variant LINC-JP 16 4742125 4742125 single base substitution A G downstream_gene_variant LINC-JP 16 4744427 4744427 single base substitution G A downstream_gene_variant LIRI-JP 16 4662674 4662674 single base substitution C A upstream_gene_variant LIRI-JP 16 4662848 4662848 single base substitution A G upstream_gene_variant LIRI-JP 16 4664866 4664866 single base substitution T C upstream_gene_variant LIRI-JP 16 4665809 4665809 single base substitution C G upstream_gene_variant LIRI-JP 16 4669256 4669256 single base substitution G A intron_variant LIRI-JP 16 4670624 4670624 single base substitution T G intron_variant LIRI-JP 16 4670624 4670624 single base substitution T G upstream_gene_variant LIRI-JP 16 4670637 4670637 single base substitution T C intron_variant LIRI-JP 16 4670637 4670637 single base substitution T C upstream_gene_variant LIRI-JP 16 4671144 4671144 single base substitution G A intron_variant LIRI-JP 16 4671144 4671144 single base substitution G A upstream_gene_variant LIRI-JP 16 4673524 4673524 single base substitution A C intron_variant LIRI-JP 16 4673524 4673524 single base substitution A C upstream_gene_variant LIRI-JP 16 4681861 4681861 single base substitution A G intron_variant LIRI-JP 16 4681883 4681883 single base substitution A C intron_variant LIRI-JP 16 4682357 4682357 single base substitution G A intron_variant LIRI-JP 16 4685702 4685702 single base substitution A G intron_variant LIRI-JP 16 4688082 4688082 single base substitution T C intron_variant LIRI-JP 16 4689556 4689556 single base substitution C A intron_variant LIRI-JP 16 4691371 4691371 single base substitution T C intron_variant LIRI-JP 16 4693180 4693180 single base substitution C A intron_variant LIRI-JP 16 4694276 4694276 single base substitution A T intron_variant LIRI-JP 16 4703363 4703363 single base substitution A G intron_variant LIRI-JP 16 4707011 4707011 single base substitution T A intron_variant LIRI-JP 16 4710695 4710695 single base substitution A T downstream_gene_variant LIRI-JP 16 4710695 4710695 single base substitution A T intron_variant LIRI-JP 16 4710695 4710695 single base substitution A T upstream_gene_variant LIRI-JP 16 4711704 4711704 single base substitution T A downstream_gene_variant LIRI-JP 16 4711704 4711704 single base substitution T A intron_variant LIRI-JP 16 4711704 4711704 single base substitution T A upstream_gene_variant LIRI-JP 16 4713478 4713478 single base substitution G T intron_variant LIRI-JP 16 4713478 4713478 single base substitution G T upstream_gene_variant LIRI-JP 16 4714471 4714471 single base substitution A G exon_variant LIRI-JP 16 4714471 4714471 single base substitution A G intron_variant LIRI-JP 16 4714471 4714471 single base substitution A G upstream_gene_variant LIRI-JP 16 4718182 4718182 insertion of <=200bp - G intron_variant LIRI-JP 16 4718182 4718182 insertion of <=200bp - G upstream_gene_variant LIRI-JP 16 4720805 4720805 single base substitution A G intron_variant LIRI-JP 16 4722671 4722671 single base substitution G T intron_variant LIRI-JP 16 4722672 4722672 single base substitution G T intron_variant LIRI-JP 16 4724154 4724154 single base substitution A G downstream_gene_variant LIRI-JP 16 4724154 4724154 single base substitution A G intron_variant LIRI-JP 16 4726189 4726189 single base substitution G C downstream_gene_variant LIRI-JP 16 4726189 4726189 single base substitution G C intron_variant LIRI-JP 16 4726189 4726189 single base substitution G C upstream_gene_variant LIRI-JP 16 4726591 4726591 single base substitution A G downstream_gene_variant LIRI-JP 16 4726591 4726591 single base substitution A G intron_variant LIRI-JP 16 4726591 4726591 single base substitution A G upstream_gene_variant LIRI-JP 16 4728634 4728634 single base substitution G T downstream_gene_variant LIRI-JP 16 4728634 4728634 single base substitution G T intron_variant LIRI-JP 16 4728634 4728634 single base substitution G T upstream_gene_variant LIRI-JP 16 4728669 4728669 single base substitution G T downstream_gene_variant LIRI-JP 16 4728669 4728669 single base substitution G T intron_variant LIRI-JP 16 4728669 4728669 single base substitution G T upstream_gene_variant LIRI-JP 16 4736081 4736091 deletion of <=200bp TCTGGCTGCGC - downstream_gene_variant LIRI-JP 16 4736081 4736091 deletion of <=200bp TCTGGCTGCGC - intron_variant LIRI-JP 16 4736419 4736419 single base substitution C T 3_prime_UTR_variant LIRI-JP 16 4736419 4736419 single base substitution C T downstream_gene_variant LIRI-JP 16 4736419 4736419 single base substitution C T intron_variant LIRI-JP 16 4737338 4737338 single base substitution C T 3_prime_UTR_variant LIRI-JP 16 4737338 4737338 single base substitution C T downstream_gene_variant LIRI-JP 16 4737338 4737338 single base substitution C T intron_variant LIRI-JP 16 4742837 4742837 single base substitution T A downstream_gene_variant LIRI-JP 16 4745458 4745458 single base substitution T A downstream_gene_variant LUSC-KR 16 4662421 4662421 single base substitution C G upstream_gene_variant LUSC-KR 16 4664388 4664388 single base substitution C A upstream_gene_variant LUSC-KR 16 4665495 4665495 single base substitution G A upstream_gene_variant LUSC-KR 16 4670989 4670989 single base substitution G C intron_variant LUSC-KR 16 4670989 4670989 single base substitution G C upstream_gene_variant LUSC-KR 16 4672174 4672174 single base substitution C T intron_variant LUSC-KR 16 4672174 4672174 single base substitution C T upstream_gene_variant LUSC-KR 16 4672420 4672420 single base substitution T C intron_variant LUSC-KR 16 4672420 4672420 single base substitution T C upstream_gene_variant LUSC-KR 16 4672425 4672425 single base substitution G C intron_variant LUSC-KR 16 4672425 4672425 single base substitution G C upstream_gene_variant LUSC-KR 16 4676177 4676177 single base substitution G A intron_variant LUSC-KR 16 4676425 4676425 single base substitution C G intron_variant LUSC-KR 16 4677777 4677777 single base substitution C T intron_variant LUSC-KR 16 4679823 4679823 single base substitution G A intron_variant LUSC-KR 16 4681820 4681820 single base substitution G T intron_variant LUSC-KR 16 4687041 4687041 single base substitution A C intron_variant LUSC-KR 16 4687418 4687418 single base substitution G A intron_variant LUSC-KR 16 4687536 4687536 single base substitution G T intron_variant LUSC-KR 16 4689501 4689501 single base substitution G T intron_variant LUSC-KR 16 4691313 4691313 single base substitution A G intron_variant LUSC-KR 16 4697060 4697060 single base substitution G T intron_variant LUSC-KR 16 4697060 4697060 single base substitution G T upstream_gene_variant LUSC-KR 16 4698631 4698631 single base substitution A G intron_variant LUSC-KR 16 4698631 4698631 single base substitution A G upstream_gene_variant LUSC-KR 16 4701990 4701990 single base substitution C G exon_variant LUSC-KR 16 4701990 4701990 single base substitution C G missense_variant H37Q 111C>G LUSC-KR 16 4701990 4701990 single base substitution C G missense_variant H40Q 120C>G LUSC-KR 16 4701990 4701990 single base substitution C G missense_variant H41Q 123C>G LUSC-KR 16 4701990 4701990 single base substitution C G missense_variant H78Q 234C>G LUSC-KR 16 4704291 4704291 single base substitution G A intron_variant LUSC-KR 16 4705534 4705534 single base substitution C T intron_variant LUSC-KR 16 4707432 4707432 single base substitution A G downstream_gene_variant LUSC-KR 16 4707432 4707432 single base substitution A G intron_variant LUSC-KR 16 4712838 4712838 single base substitution G T intron_variant LUSC-KR 16 4712838 4712838 single base substitution G T upstream_gene_variant LUSC-KR 16 4715729 4715729 single base substitution G T intron_variant LUSC-KR 16 4715729 4715729 single base substitution G T upstream_gene_variant LUSC-KR 16 4717022 4717022 single base substitution C T intron_variant LUSC-KR 16 4717022 4717022 single base substitution C T upstream_gene_variant LUSC-KR 16 4718791 4718791 single base substitution A G intron_variant LUSC-KR 16 4718791 4718791 single base substitution A G upstream_gene_variant LUSC-KR 16 4722355 4722355 single base substitution C T intron_variant LUSC-KR 16 4724602 4724602 single base substitution C T downstream_gene_variant LUSC-KR 16 4724602 4724602 single base substitution C T intron_variant LUSC-KR 16 4728349 4728349 single base substitution C T downstream_gene_variant LUSC-KR 16 4728349 4728349 single base substitution C T intron_variant LUSC-KR 16 4728349 4728349 single base substitution C T upstream_gene_variant LUSC-KR 16 4729093 4729093 single base substitution C T downstream_gene_variant LUSC-KR 16 4729093 4729093 single base substitution C T intron_variant LUSC-KR 16 4729093 4729093 single base substitution C T upstream_gene_variant LUSC-KR 16 4734026 4734026 single base substitution G C downstream_gene_variant LUSC-KR 16 4734026 4734026 single base substitution G C intron_variant LUSC-KR 16 4734203 4734203 single base substitution G C downstream_gene_variant LUSC-KR 16 4734203 4734203 single base substitution G C intron_variant LUSC-KR 16 4734289 4734289 single base substitution G T downstream_gene_variant LUSC-KR 16 4734289 4734289 single base substitution G T intron_variant LUSC-KR 16 4734419 4734419 single base substitution C T downstream_gene_variant LUSC-KR 16 4734419 4734419 single base substitution C T intron_variant LUSC-KR 16 4736574 4736574 single base substitution G T 3_prime_UTR_variant LUSC-KR 16 4736574 4736574 single base substitution G T downstream_gene_variant LUSC-KR 16 4736574 4736574 single base substitution G T intron_variant LUSC-KR 16 4740797 4740797 single base substitution C T 3_prime_UTR_variant LUSC-KR 16 4740797 4740797 single base substitution C T downstream_gene_variant MALY-DE 16 4664869 4664880 deletion of <=200bp CGAGCCGGCTCC - upstream_gene_variant MALY-DE 16 4672921 4672921 single base substitution T A intron_variant MALY-DE 16 4672921 4672921 single base substitution T A upstream_gene_variant MALY-DE 16 4675390 4675390 single base substitution A C intron_variant MALY-DE 16 4678365 4678365 single base substitution G A intron_variant MALY-DE 16 4685750 4685750 single base substitution C T intron_variant MALY-DE 16 4691998 4691998 single base substitution C T intron_variant MALY-DE 16 4696494 4696494 single base substitution C T intron_variant MALY-DE 16 4696494 4696494 single base substitution C T upstream_gene_variant MALY-DE 16 4702475 4702475 single base substitution G A intron_variant MALY-DE 16 4704636 4704636 single base substitution G T intron_variant MALY-DE 16 4705015 4705015 single base substitution A G intron_variant MALY-DE 16 4710278 4710278 single base substitution G T downstream_gene_variant MALY-DE 16 4710278 4710278 single base substitution G T intron_variant MALY-DE 16 4710278 4710278 single base substitution G T upstream_gene_variant MALY-DE 16 4710477 4710477 single base substitution A G downstream_gene_variant MALY-DE 16 4710477 4710477 single base substitution A G intron_variant MALY-DE 16 4710477 4710477 single base substitution A G upstream_gene_variant MALY-DE 16 4712976 4712976 single base substitution G A intron_variant MALY-DE 16 4712976 4712976 single base substitution G A upstream_gene_variant MALY-DE 16 4720367 4720367 single base substitution C T intron_variant MALY-DE 16 4722481 4722481 single base substitution C T intron_variant MALY-DE 16 4722481 4722481 single base substitution C T synonymous_variant S292S 876C>T MALY-DE 16 4727224 4727224 single base substitution G A downstream_gene_variant MALY-DE 16 4727224 4727224 single base substitution G A exon_variant MALY-DE 16 4727224 4727224 single base substitution G A intron_variant MALY-DE 16 4727224 4727224 single base substitution G A upstream_gene_variant MALY-DE 16 4729448 4729448 single base substitution G A downstream_gene_variant MALY-DE 16 4729448 4729448 single base substitution G A intron_variant MALY-DE 16 4729448 4729448 single base substitution G A upstream_gene_variant MALY-DE 16 4731253 4731253 single base substitution C T downstream_gene_variant MALY-DE 16 4731253 4731253 single base substitution C T intron_variant MALY-DE 16 4731253 4731253 single base substitution C T upstream_gene_variant MALY-DE 16 4736652 4736652 single base substitution G A 3_prime_UTR_variant MALY-DE 16 4736652 4736652 single base substitution G A downstream_gene_variant MALY-DE 16 4736652 4736652 single base substitution G A intron_variant MALY-DE 16 4740524 4740524 single base substitution C T 3_prime_UTR_variant MALY-DE 16 4740524 4740524 single base substitution C T downstream_gene_variant MALY-DE 16 4741833 4741833 single base substitution A T downstream_gene_variant MALY-DE 16 4743994 4743994 single base substitution G A downstream_gene_variant MELA-AU 16 4661865 4661865 single base substitution G A upstream_gene_variant MELA-AU 16 4662199 4662199 single base substitution G T upstream_gene_variant MELA-AU 16 4662484 4662484 single base substitution C A upstream_gene_variant MELA-AU 16 4663742 4663742 single base substitution G A upstream_gene_variant MELA-AU 16 4666323 4666323 single base substitution C T upstream_gene_variant MELA-AU 16 4666324 4666324 single base substitution C T upstream_gene_variant MELA-AU 16 4666348 4666348 single base substitution C T upstream_gene_variant MELA-AU 16 4666373 4666373 insertion of <=200bp - G upstream_gene_variant MELA-AU 16 4666383 4666383 single base substitution G A upstream_gene_variant MELA-AU 16 4666452 4666453 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 4666453 4666454 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 4666454 4666454 single base substitution G C upstream_gene_variant MELA-AU 16 4666456 4666456 single base substitution G A upstream_gene_variant MELA-AU 16 4668088 4668088 single base substitution C A intron_variant MELA-AU 16 4669123 4669123 single base substitution G A intron_variant MELA-AU 16 4669285 4669285 single base substitution G A intron_variant MELA-AU 16 4669403 4669403 single base substitution C T intron_variant MELA-AU 16 4669732 4669732 single base substitution C T intron_variant MELA-AU 16 4671105 4671105 single base substitution C T intron_variant MELA-AU 16 4671105 4671105 single base substitution C T upstream_gene_variant MELA-AU 16 4671300 4671300 single base substitution T C intron_variant MELA-AU 16 4671300 4671300 single base substitution T C upstream_gene_variant MELA-AU 16 4671369 4671369 single base substitution A T intron_variant MELA-AU 16 4671369 4671369 single base substitution A T upstream_gene_variant MELA-AU 16 4671516 4671516 single base substitution C T intron_variant MELA-AU 16 4671516 4671516 single base substitution C T upstream_gene_variant MELA-AU 16 4672334 4672334 single base substitution C T intron_variant MELA-AU 16 4672334 4672334 single base substitution C T upstream_gene_variant MELA-AU 16 4672572 4672572 single base substitution C T intron_variant MELA-AU 16 4672572 4672572 single base substitution C T upstream_gene_variant MELA-AU 16 4672948 4672948 single base substitution C T intron_variant MELA-AU 16 4672948 4672948 single base substitution C T upstream_gene_variant MELA-AU 16 4673866 4673866 single base substitution G A intron_variant MELA-AU 16 4673866 4673866 single base substitution G A upstream_gene_variant MELA-AU 16 4674097 4674097 single base substitution G A intron_variant MELA-AU 16 4674097 4674097 single base substitution G A upstream_gene_variant MELA-AU 16 4674220 4674220 single base substitution C T intron_variant MELA-AU 16 4674220 4674220 single base substitution C T upstream_gene_variant MELA-AU 16 4674427 4674427 single base substitution C T intron_variant MELA-AU 16 4674427 4674427 single base substitution C T upstream_gene_variant MELA-AU 16 4675664 4675665 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 4676537 4676537 single base substitution C T intron_variant MELA-AU 16 4676741 4676741 single base substitution C T intron_variant MELA-AU 16 4678180 4678180 single base substitution G A intron_variant MELA-AU 16 4678511 4678511 single base substitution C T intron_variant MELA-AU 16 4679031 4679031 single base substitution T C intron_variant MELA-AU 16 4679991 4679991 single base substitution C T intron_variant MELA-AU 16 4680024 4680024 single base substitution C T intron_variant MELA-AU 16 4680823 4680823 single base substitution T G intron_variant MELA-AU 16 4680829 4680829 single base substitution T A intron_variant MELA-AU 16 4681473 4681473 single base substitution G T intron_variant MELA-AU 16 4681910 4681910 single base substitution T G intron_variant MELA-AU 16 4682106 4682106 single base substitution C T intron_variant MELA-AU 16 4682622 4682622 single base substitution C A intron_variant MELA-AU 16 4682681 4682681 single base substitution C T intron_variant MELA-AU 16 4683482 4683482 single base substitution C T intron_variant MELA-AU 16 4683610 4683610 single base substitution T A intron_variant MELA-AU 16 4684215 4684215 single base substitution C T intron_variant MELA-AU 16 4684216 4684216 single base substitution C T intron_variant MELA-AU 16 4684719 4684719 single base substitution C T intron_variant MELA-AU 16 4684806 4684806 single base substitution C T intron_variant MELA-AU 16 4685488 4685488 single base substitution C T intron_variant MELA-AU 16 4685815 4685815 single base substitution T G intron_variant MELA-AU 16 4686252 4686253 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 4687345 4687345 single base substitution C T intron_variant MELA-AU 16 4687469 4687469 single base substitution T C intron_variant MELA-AU 16 4687553 4687553 single base substitution G A intron_variant MELA-AU 16 4687671 4687671 single base substitution C T intron_variant MELA-AU 16 4687958 4687958 single base substitution C T intron_variant MELA-AU 16 4688094 4688095 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 4688380 4688380 single base substitution C T intron_variant MELA-AU 16 4688491 4688491 single base substitution A T intron_variant MELA-AU 16 4688842 4688842 single base substitution C T intron_variant MELA-AU 16 4688904 4688904 single base substitution G A intron_variant MELA-AU 16 4689008 4689008 single base substitution C T intron_variant MELA-AU 16 4689320 4689320 single base substitution G A intron_variant MELA-AU 16 4690026 4690026 single base substitution C T intron_variant MELA-AU 16 4690483 4690483 single base substitution G A intron_variant MELA-AU 16 4690623 4690623 single base substitution C T intron_variant MELA-AU 16 4690956 4690956 single base substitution C T intron_variant MELA-AU 16 4690962 4690962 single base substitution C T intron_variant MELA-AU 16 4691330 4691331 multiple base substitution (>=2bp and <=200bp) TG AT intron_variant MELA-AU 16 4691610 4691611 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 4691614 4691614 single base substitution G A intron_variant MELA-AU 16 4692292 4692292 single base substitution T C intron_variant MELA-AU 16 4692333 4692333 single base substitution C T intron_variant MELA-AU 16 4693066 4693066 single base substitution C T intron_variant MELA-AU 16 4693440 4693440 single base substitution C T intron_variant MELA-AU 16 4694186 4694186 single base substitution T C intron_variant MELA-AU 16 4694753 4694753 single base substitution T C intron_variant MELA-AU 16 4695422 4695422 single base substitution G A intron_variant MELA-AU 16 4695422 4695422 single base substitution G A upstream_gene_variant MELA-AU 16 4695455 4695455 single base substitution C G intron_variant MELA-AU 16 4695455 4695455 single base substitution C G upstream_gene_variant MELA-AU 16 4695909 4695909 single base substitution T A intron_variant MELA-AU 16 4695909 4695909 single base substitution T A upstream_gene_variant MELA-AU 16 4696104 4696104 single base substitution C T intron_variant MELA-AU 16 4696104 4696104 single base substitution C T upstream_gene_variant MELA-AU 16 4696456 4696456 single base substitution C T intron_variant MELA-AU 16 4696456 4696456 single base substitution C T upstream_gene_variant MELA-AU 16 4696550 4696550 single base substitution C T intron_variant MELA-AU 16 4696550 4696550 single base substitution C T upstream_gene_variant MELA-AU 16 4697060 4697060 single base substitution G A intron_variant MELA-AU 16 4697060 4697060 single base substitution G A upstream_gene_variant MELA-AU 16 4697160 4697160 single base substitution G A intron_variant MELA-AU 16 4697160 4697160 single base substitution G A upstream_gene_variant MELA-AU 16 4697345 4697346 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 4697345 4697346 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 4697866 4697866 single base substitution C T intron_variant MELA-AU 16 4697866 4697866 single base substitution C T upstream_gene_variant MELA-AU 16 4697957 4697957 single base substitution T A intron_variant MELA-AU 16 4697957 4697957 single base substitution T A upstream_gene_variant MELA-AU 16 4698303 4698303 single base substitution C T intron_variant MELA-AU 16 4698303 4698303 single base substitution C T upstream_gene_variant MELA-AU 16 4698497 4698498 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 4698497 4698498 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 4698654 4698654 single base substitution C T intron_variant MELA-AU 16 4698654 4698654 single base substitution C T upstream_gene_variant MELA-AU 16 4698670 4698670 single base substitution C T intron_variant MELA-AU 16 4698670 4698670 single base substitution C T upstream_gene_variant MELA-AU 16 4698888 4698888 single base substitution C T intron_variant MELA-AU 16 4698888 4698888 single base substitution C T upstream_gene_variant MELA-AU 16 4699056 4699056 single base substitution C T intron_variant MELA-AU 16 4699056 4699056 single base substitution C T upstream_gene_variant MELA-AU 16 4699170 4699170 single base substitution C T intron_variant MELA-AU 16 4699170 4699170 single base substitution C T upstream_gene_variant MELA-AU 16 4699300 4699300 single base substitution C T intron_variant MELA-AU 16 4699300 4699300 single base substitution C T upstream_gene_variant MELA-AU 16 4701959 4701959 single base substitution C T splice_region_variant MELA-AU 16 4702063 4702063 single base substitution C T intron_variant MELA-AU 16 4702271 4702271 single base substitution C T intron_variant MELA-AU 16 4702821 4702821 single base substitution G A exon_variant MELA-AU 16 4702821 4702821 single base substitution G A missense_variant A106T 316G>A MELA-AU 16 4702821 4702821 single base substitution G A missense_variant A109T 325G>A MELA-AU 16 4702821 4702821 single base substitution G A missense_variant A110T 328G>A MELA-AU 16 4702821 4702821 single base substitution G A missense_variant A147T 439G>A MELA-AU 16 4702874 4702874 single base substitution C T intron_variant MELA-AU 16 4703416 4703416 single base substitution T A intron_variant MELA-AU 16 4703540 4703540 single base substitution C T intron_variant MELA-AU 16 4704391 4704391 single base substitution G A intron_variant MELA-AU 16 4705056 4705056 single base substitution C T intron_variant MELA-AU 16 4705581 4705581 single base substitution C T intron_variant MELA-AU 16 4705692 4705692 single base substitution C T intron_variant MELA-AU 16 4706082 4706082 single base substitution C T intron_variant MELA-AU 16 4707490 4707490 single base substitution C T downstream_gene_variant MELA-AU 16 4707490 4707490 single base substitution C T intron_variant MELA-AU 16 4707817 4707817 single base substitution G A downstream_gene_variant MELA-AU 16 4707817 4707817 single base substitution G A intron_variant MELA-AU 16 4707860 4707860 single base substitution C T downstream_gene_variant MELA-AU 16 4707860 4707860 single base substitution C T intron_variant MELA-AU 16 4707941 4707941 single base substitution C A downstream_gene_variant MELA-AU 16 4707941 4707941 single base substitution C A intron_variant MELA-AU 16 4708181 4708181 single base substitution C T downstream_gene_variant MELA-AU 16 4708181 4708181 single base substitution C T intron_variant MELA-AU 16 4708777 4708777 single base substitution G A downstream_gene_variant MELA-AU 16 4708777 4708777 single base substitution G A intron_variant MELA-AU 16 4709486 4709486 single base substitution C T downstream_gene_variant MELA-AU 16 4709486 4709486 single base substitution C T intron_variant MELA-AU 16 4709486 4709486 single base substitution C T upstream_gene_variant MELA-AU 16 4709530 4709530 single base substitution G A downstream_gene_variant MELA-AU 16 4709530 4709530 single base substitution G A intron_variant MELA-AU 16 4709530 4709530 single base substitution G A upstream_gene_variant MELA-AU 16 4710744 4710744 single base substitution C T downstream_gene_variant MELA-AU 16 4710744 4710744 single base substitution C T intron_variant MELA-AU 16 4710744 4710744 single base substitution C T upstream_gene_variant MELA-AU 16 4710970 4710970 single base substitution C T downstream_gene_variant MELA-AU 16 4710970 4710970 single base substitution C T intron_variant MELA-AU 16 4710970 4710970 single base substitution C T upstream_gene_variant MELA-AU 16 4711238 4711238 single base substitution C T downstream_gene_variant MELA-AU 16 4711238 4711238 single base substitution C T intron_variant MELA-AU 16 4711238 4711238 single base substitution C T upstream_gene_variant MELA-AU 16 4711506 4711506 single base substitution C T downstream_gene_variant MELA-AU 16 4711506 4711506 single base substitution C T intron_variant MELA-AU 16 4711506 4711506 single base substitution C T upstream_gene_variant MELA-AU 16 4711642 4711642 single base substitution C T downstream_gene_variant MELA-AU 16 4711642 4711642 single base substitution C T intron_variant MELA-AU 16 4711642 4711642 single base substitution C T upstream_gene_variant MELA-AU 16 4711769 4711769 single base substitution C T downstream_gene_variant MELA-AU 16 4711769 4711769 single base substitution C T intron_variant MELA-AU 16 4711769 4711769 single base substitution C T upstream_gene_variant MELA-AU 16 4712599 4712599 single base substitution G T intron_variant MELA-AU 16 4712599 4712599 single base substitution G T upstream_gene_variant MELA-AU 16 4714085 4714085 insertion of <=200bp - T exon_variant MELA-AU 16 4714085 4714085 insertion of <=200bp - T intron_variant MELA-AU 16 4714085 4714085 insertion of <=200bp - T upstream_gene_variant MELA-AU 16 4714113 4714114 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 16 4714113 4714114 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 4714113 4714114 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 4714404 4714404 single base substitution C T intron_variant MELA-AU 16 4714404 4714404 single base substitution C T upstream_gene_variant MELA-AU 16 4714866 4714866 single base substitution A G intron_variant MELA-AU 16 4714866 4714866 single base substitution A G upstream_gene_variant MELA-AU 16 4714926 4714926 single base substitution C T intron_variant MELA-AU 16 4714926 4714926 single base substitution C T upstream_gene_variant MELA-AU 16 4716767 4716767 single base substitution C T intron_variant MELA-AU 16 4716767 4716767 single base substitution C T upstream_gene_variant MELA-AU 16 4717304 4717305 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 4717304 4717305 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 4717772 4717772 single base substitution C T intron_variant MELA-AU 16 4717772 4717772 single base substitution C T upstream_gene_variant MELA-AU 16 4718497 4718497 single base substitution C T intron_variant MELA-AU 16 4718497 4718497 single base substitution C T upstream_gene_variant MELA-AU 16 4718688 4718688 single base substitution C T intron_variant MELA-AU 16 4718688 4718688 single base substitution C T upstream_gene_variant MELA-AU 16 4719183 4719183 single base substitution C T exon_variant MELA-AU 16 4719183 4719183 single base substitution C T intron_variant MELA-AU 16 4719451 4719451 single base substitution C T intron_variant MELA-AU 16 4719746 4719746 single base substitution C T intron_variant MELA-AU 16 4720248 4720248 single base substitution T C intron_variant MELA-AU 16 4720751 4720751 single base substitution C T intron_variant MELA-AU 16 4720969 4720969 insertion of <=200bp - C intron_variant MELA-AU 16 4721365 4721365 single base substitution C G intron_variant MELA-AU 16 4721636 4721636 single base substitution C T intron_variant MELA-AU 16 4722590 4722590 single base substitution C T intron_variant MELA-AU 16 4723003 4723003 single base substitution C T intron_variant MELA-AU 16 4723148 4723148 single base substitution G T intron_variant MELA-AU 16 4723218 4723218 single base substitution C T intron_variant MELA-AU 16 4724304 4724304 single base substitution T G downstream_gene_variant MELA-AU 16 4724304 4724304 single base substitution T G intron_variant MELA-AU 16 4725854 4725854 single base substitution C T downstream_gene_variant MELA-AU 16 4725854 4725854 single base substitution C T intron_variant MELA-AU 16 4725854 4725854 single base substitution C T upstream_gene_variant MELA-AU 16 4725975 4725975 single base substitution C T downstream_gene_variant MELA-AU 16 4725975 4725975 single base substitution C T intron_variant MELA-AU 16 4725975 4725975 single base substitution C T upstream_gene_variant MELA-AU 16 4726520 4726520 single base substitution C T downstream_gene_variant MELA-AU 16 4726520 4726520 single base substitution C T intron_variant MELA-AU 16 4726520 4726520 single base substitution C T upstream_gene_variant MELA-AU 16 4726980 4726980 single base substitution C T downstream_gene_variant MELA-AU 16 4726980 4726980 single base substitution C T exon_variant MELA-AU 16 4726980 4726980 single base substitution C T intron_variant MELA-AU 16 4726980 4726980 single base substitution C T upstream_gene_variant MELA-AU 16 4727390 4727390 single base substitution C T downstream_gene_variant MELA-AU 16 4727390 4727390 single base substitution C T intron_variant MELA-AU 16 4727390 4727390 single base substitution C T upstream_gene_variant MELA-AU 16 4727427 4727427 single base substitution T C downstream_gene_variant MELA-AU 16 4727427 4727427 single base substitution T C intron_variant MELA-AU 16 4727427 4727427 single base substitution T C upstream_gene_variant MELA-AU 16 4727680 4727680 single base substitution C T downstream_gene_variant MELA-AU 16 4727680 4727680 single base substitution C T intron_variant MELA-AU 16 4727680 4727680 single base substitution C T upstream_gene_variant MELA-AU 16 4728643 4728643 single base substitution G A downstream_gene_variant MELA-AU 16 4728643 4728643 single base substitution G A intron_variant MELA-AU 16 4728643 4728643 single base substitution G A upstream_gene_variant MELA-AU 16 4728905 4728905 single base substitution C T downstream_gene_variant MELA-AU 16 4728905 4728905 single base substitution C T intron_variant MELA-AU 16 4728905 4728905 single base substitution C T upstream_gene_variant MELA-AU 16 4730195 4730195 single base substitution C T downstream_gene_variant MELA-AU 16 4730195 4730195 single base substitution C T exon_variant MELA-AU 16 4730195 4730195 single base substitution C T intron_variant MELA-AU 16 4730195 4730195 single base substitution C T upstream_gene_variant MELA-AU 16 4730362 4730362 single base substitution C T downstream_gene_variant MELA-AU 16 4730362 4730362 single base substitution C T intron_variant MELA-AU 16 4730362 4730362 single base substitution C T upstream_gene_variant MELA-AU 16 4731097 4731097 single base substitution C T downstream_gene_variant MELA-AU 16 4731097 4731097 single base substitution C T intron_variant MELA-AU 16 4731097 4731097 single base substitution C T upstream_gene_variant MELA-AU 16 4731229 4731229 single base substitution C T downstream_gene_variant MELA-AU 16 4731229 4731229 single base substitution C T intron_variant MELA-AU 16 4731229 4731229 single base substitution C T upstream_gene_variant MELA-AU 16 4731691 4731691 single base substitution C T 3_prime_UTR_variant MELA-AU 16 4731691 4731691 single base substitution C T downstream_gene_variant MELA-AU 16 4731691 4731691 single base substitution C T exon_variant MELA-AU 16 4731691 4731691 single base substitution C T synonymous_variant S402S 1206C>T MELA-AU 16 4731691 4731691 single base substitution C T synonymous_variant S403S 1209C>T MELA-AU 16 4731691 4731691 single base substitution C T synonymous_variant S424S 1272C>T MELA-AU 16 4731691 4731691 single base substitution C T synonymous_variant S463S 1389C>T MELA-AU 16 4732219 4732219 single base substitution C T downstream_gene_variant MELA-AU 16 4732219 4732219 single base substitution C T intron_variant MELA-AU 16 4732801 4732801 single base substitution C T downstream_gene_variant MELA-AU 16 4732801 4732801 single base substitution C T intron_variant MELA-AU 16 4732844 4732844 single base substitution C T 3_prime_UTR_variant MELA-AU 16 4732844 4732844 single base substitution C T downstream_gene_variant MELA-AU 16 4732844 4732844 single base substitution C T exon_variant MELA-AU 16 4732844 4732844 single base substitution C T missense_variant S438F 1313C>T MELA-AU 16 4732844 4732844 single base substitution C T missense_variant S439F 1316C>T MELA-AU 16 4732844 4732844 single base substitution C T missense_variant S460F 1379C>T MELA-AU 16 4732844 4732844 single base substitution C T missense_variant S499F 1496C>T MELA-AU 16 4732998 4732998 single base substitution C T downstream_gene_variant MELA-AU 16 4732998 4732998 single base substitution C T intron_variant MELA-AU 16 4733220 4733220 single base substitution C T downstream_gene_variant MELA-AU 16 4733220 4733220 single base substitution C T splice_region_variant MELA-AU 16 4733679 4733679 single base substitution C T downstream_gene_variant MELA-AU 16 4733679 4733679 single base substitution C T intron_variant MELA-AU 16 4733831 4733831 single base substitution C T downstream_gene_variant MELA-AU 16 4733831 4733831 single base substitution C T intron_variant MELA-AU 16 4734851 4734852 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 4734851 4734852 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 4734874 4734874 single base substitution C T downstream_gene_variant MELA-AU 16 4734874 4734874 single base substitution C T intron_variant MELA-AU 16 4735199 4735199 single base substitution A G downstream_gene_variant MELA-AU 16 4735199 4735199 single base substitution A G intron_variant MELA-AU 16 4735874 4735874 single base substitution A G downstream_gene_variant MELA-AU 16 4735874 4735874 single base substitution A G intron_variant MELA-AU 16 4735925 4735925 single base substitution C T downstream_gene_variant MELA-AU 16 4735925 4735925 single base substitution C T intron_variant MELA-AU 16 4735990 4735990 single base substitution C T downstream_gene_variant MELA-AU 16 4735990 4735990 single base substitution C T intron_variant MELA-AU 16 4736329 4736329 single base substitution C T 3_prime_UTR_variant MELA-AU 16 4736329 4736329 single base substitution C T downstream_gene_variant MELA-AU 16 4736329 4736329 single base substitution C T intron_variant MELA-AU 16 4737013 4737013 single base substitution C T 3_prime_UTR_variant MELA-AU 16 4737013 4737013 single base substitution C T downstream_gene_variant MELA-AU 16 4737013 4737013 single base substitution C T intron_variant MELA-AU 16 4737579 4737579 single base substitution T C 3_prime_UTR_variant MELA-AU 16 4737579 4737579 single base substitution T C downstream_gene_variant MELA-AU 16 4737579 4737579 single base substitution T C intron_variant MELA-AU 16 4738082 4738083 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 16 4738082 4738083 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 4738082 4738083 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 4739081 4739081 single base substitution G A 3_prime_UTR_variant MELA-AU 16 4739081 4739081 single base substitution G A downstream_gene_variant MELA-AU 16 4739639 4739639 single base substitution C T 3_prime_UTR_variant MELA-AU 16 4739639 4739639 single base substitution C T downstream_gene_variant MELA-AU 16 4740231 4740231 single base substitution T A 3_prime_UTR_variant MELA-AU 16 4740231 4740231 single base substitution T A downstream_gene_variant MELA-AU 16 4740360 4740360 single base substitution C T 3_prime_UTR_variant MELA-AU 16 4740360 4740360 single base substitution C T downstream_gene_variant MELA-AU 16 4740449 4740449 single base substitution C T 3_prime_UTR_variant MELA-AU 16 4740449 4740449 single base substitution C T downstream_gene_variant MELA-AU 16 4741307 4741307 single base substitution G A downstream_gene_variant MELA-AU 16 4743377 4743377 single base substitution C T downstream_gene_variant MELA-AU 16 4745285 4745285 single base substitution G A downstream_gene_variant MELA-AU 16 4745320 4745321 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant ORCA-IN 16 4663353 4663353 single base substitution C T upstream_gene_variant ORCA-IN 16 4677514 4677514 single base substitution C T intron_variant ORCA-IN 16 4681311 4681311 single base substitution G A intron_variant ORCA-IN 16 4702738 4702738 single base substitution G A exon_variant ORCA-IN 16 4702738 4702738 single base substitution G A missense_variant S119N 356G>A ORCA-IN 16 4702738 4702738 single base substitution G A missense_variant S78N 233G>A ORCA-IN 16 4702738 4702738 single base substitution G A missense_variant S81N 242G>A ORCA-IN 16 4702738 4702738 single base substitution G A missense_variant S82N 245G>A ORCA-IN 16 4706932 4706932 single base substitution A C intron_variant ORCA-IN 16 4738985 4738985 single base substitution G A 3_prime_UTR_variant ORCA-IN 16 4738985 4738985 single base substitution G A downstream_gene_variant OV-AU 16 4666469 4666469 single base substitution G T upstream_gene_variant OV-AU 16 4666470 4666470 single base substitution C T upstream_gene_variant OV-AU 16 4668498 4668498 single base substitution T G intron_variant OV-AU 16 4669686 4669686 single base substitution T C intron_variant OV-AU 16 4674348 4674348 single base substitution C T intron_variant OV-AU 16 4674348 4674348 single base substitution C T upstream_gene_variant OV-AU 16 4677214 4677214 single base substitution G A intron_variant OV-AU 16 4685981 4685981 single base substitution T A intron_variant OV-AU 16 4694234 4694234 single base substitution C G intron_variant OV-AU 16 4700299 4700299 single base substitution C G intron_variant OV-AU 16 4700299 4700299 single base substitution C G upstream_gene_variant OV-AU 16 4703801 4703801 single base substitution T A intron_variant OV-AU 16 4704929 4704929 single base substitution C G intron_variant OV-AU 16 4710295 4710295 single base substitution G A downstream_gene_variant OV-AU 16 4710295 4710295 single base substitution G A intron_variant OV-AU 16 4710295 4710295 single base substitution G A upstream_gene_variant OV-AU 16 4715400 4715400 single base substitution C G intron_variant OV-AU 16 4715400 4715400 single base substitution C G upstream_gene_variant OV-AU 16 4719022 4719022 single base substitution T C intron_variant OV-AU 16 4719022 4719022 single base substitution T C upstream_gene_variant OV-AU 16 4727483 4727483 single base substitution G A downstream_gene_variant OV-AU 16 4727483 4727483 single base substitution G A exon_variant OV-AU 16 4727483 4727483 single base substitution G A intron_variant OV-AU 16 4727483 4727483 single base substitution G A synonymous_variant Q289Q 867G>A OV-AU 16 4727483 4727483 single base substitution G A synonymous_variant Q325Q 975G>A OV-AU 16 4727483 4727483 single base substitution G A synonymous_variant Q326Q 978G>A OV-AU 16 4727483 4727483 single base substitution G A synonymous_variant Q364Q 1092G>A OV-AU 16 4727483 4727483 single base substitution G A upstream_gene_variant OV-AU 16 4733211 4733211 single base substitution C A downstream_gene_variant OV-AU 16 4733211 4733211 single base substitution C A intron_variant OV-AU 16 4734930 4734930 single base substitution C G downstream_gene_variant OV-AU 16 4734930 4734930 single base substitution C G intron_variant PACA-AU 16 4662725 4662725 single base substitution C T upstream_gene_variant PACA-AU 16 4662823 4662823 single base substitution C T upstream_gene_variant PACA-AU 16 4662956 4662956 single base substitution T G upstream_gene_variant PACA-AU 16 4667005 4667005 single base substitution T C intron_variant PACA-AU 16 4671272 4671272 single base substitution G A intron_variant PACA-AU 16 4671272 4671272 single base substitution G A upstream_gene_variant PACA-AU 16 4671856 4671856 single base substitution G A intron_variant PACA-AU 16 4671856 4671856 single base substitution G A upstream_gene_variant PACA-AU 16 4677527 4677527 single base substitution G A intron_variant PACA-AU 16 4682307 4682307 single base substitution G A intron_variant PACA-AU 16 4689270 4689270 single base substitution A C intron_variant PACA-AU 16 4690025 4690025 single base substitution G A intron_variant PACA-AU 16 4690848 4690848 single base substitution G A intron_variant PACA-AU 16 4690882 4690882 single base substitution C A intron_variant PACA-AU 16 4713323 4713323 single base substitution C T intron_variant PACA-AU 16 4713323 4713323 single base substitution C T upstream_gene_variant PACA-AU 16 4713619 4713619 single base substitution T G intron_variant PACA-AU 16 4713619 4713619 single base substitution T G upstream_gene_variant PACA-AU 16 4716306 4716306 single base substitution A T intron_variant PACA-AU 16 4716306 4716306 single base substitution A T upstream_gene_variant PACA-AU 16 4721452 4721452 single base substitution G T exon_variant PACA-AU 16 4721452 4721452 single base substitution G T stop_gained E145* 433G>T PACA-AU 16 4721452 4721452 single base substitution G T stop_gained E227* 679G>T PACA-AU 16 4721452 4721452 single base substitution G T stop_gained E263* 787G>T PACA-AU 16 4721452 4721452 single base substitution G T stop_gained E264* 790G>T PACA-AU 16 4722352 4722352 single base substitution G T intron_variant PACA-AU 16 4735938 4735938 single base substitution C T downstream_gene_variant PACA-AU 16 4735938 4735938 single base substitution C T intron_variant PACA-AU 16 4736367 4736367 single base substitution C G 3_prime_UTR_variant PACA-AU 16 4736367 4736367 single base substitution C G downstream_gene_variant PACA-AU 16 4736367 4736367 single base substitution C G intron_variant PACA-AU 16 4738826 4738826 single base substitution G A 3_prime_UTR_variant PACA-AU 16 4738826 4738826 single base substitution G A downstream_gene_variant PACA-AU 16 4738826 4738826 single base substitution G A missense_variant G528S 1582G>A PACA-AU 16 4738826 4738826 single base substitution G A missense_variant G550S 1648G>A PACA-AU 16 4738826 4738826 single base substitution G A missense_variant G589S 1765G>A PACA-AU 16 4738892 4738892 single base substitution G A 3_prime_UTR_variant PACA-AU 16 4738892 4738892 single base substitution G A downstream_gene_variant PACA-AU 16 4738892 4738892 single base substitution G A missense_variant E550K 1648G>A PACA-AU 16 4738892 4738892 single base substitution G A missense_variant E572K 1714G>A PACA-AU 16 4743489 4743489 single base substitution G T downstream_gene_variant PACA-AU 16 4745034 4745034 single base substitution G A downstream_gene_variant PACA-CA 16 4666075 4666075 single base substitution C G upstream_gene_variant PACA-CA 16 4666368 4666368 single base substitution G T upstream_gene_variant PACA-CA 16 4669453 4669453 single base substitution G A intron_variant PACA-CA 16 4673667 4673667 single base substitution G A intron_variant PACA-CA 16 4673667 4673667 single base substitution G A upstream_gene_variant PACA-CA 16 4675704 4675704 single base substitution A T intron_variant PACA-CA 16 4677036 4677036 single base substitution G T intron_variant PACA-CA 16 4683590 4683590 single base substitution G A intron_variant PACA-CA 16 4684796 4684796 single base substitution T C intron_variant PACA-CA 16 4688223 4688223 single base substitution T G intron_variant PACA-CA 16 4690013 4690013 single base substitution C T intron_variant PACA-CA 16 4694863 4694863 single base substitution A G intron_variant PACA-CA 16 4695170 4695170 single base substitution G A intron_variant PACA-CA 16 4696379 4696379 single base substitution G A intron_variant PACA-CA 16 4696379 4696379 single base substitution G A upstream_gene_variant PACA-CA 16 4698234 4698234 single base substitution G A intron_variant PACA-CA 16 4698234 4698234 single base substitution G A upstream_gene_variant PACA-CA 16 4700659 4700659 single base substitution T C intron_variant PACA-CA 16 4706931 4706931 single base substitution C T intron_variant PACA-CA 16 4712677 4712677 single base substitution C T intron_variant PACA-CA 16 4712677 4712677 single base substitution C T upstream_gene_variant PACA-CA 16 4716532 4716532 single base substitution G T intron_variant PACA-CA 16 4716532 4716532 single base substitution G T upstream_gene_variant PACA-CA 16 4716956 4716956 single base substitution G A intron_variant PACA-CA 16 4716956 4716956 single base substitution G A upstream_gene_variant PACA-CA 16 4718585 4718585 single base substitution C T intron_variant PACA-CA 16 4718585 4718585 single base substitution C T upstream_gene_variant PACA-CA 16 4722112 4722112 deletion of <=200bp G - intron_variant PACA-CA 16 4725376 4725376 single base substitution G T downstream_gene_variant PACA-CA 16 4725376 4725376 single base substitution G T intron_variant PACA-CA 16 4725376 4725376 single base substitution G T upstream_gene_variant PACA-CA 16 4726472 4726472 single base substitution T A downstream_gene_variant PACA-CA 16 4726472 4726472 single base substitution T A intron_variant PACA-CA 16 4726472 4726472 single base substitution T A upstream_gene_variant PACA-CA 16 4726890 4726890 single base substitution T G downstream_gene_variant PACA-CA 16 4726890 4726890 single base substitution T G intron_variant PACA-CA 16 4726890 4726890 single base substitution T G upstream_gene_variant PACA-CA 16 4727048 4727048 single base substitution G A downstream_gene_variant PACA-CA 16 4727048 4727048 single base substitution G A exon_variant PACA-CA 16 4727048 4727048 single base substitution G A intron_variant PACA-CA 16 4727048 4727048 single base substitution G A upstream_gene_variant PACA-CA 16 4731294 4731294 deletion of <=200bp G - downstream_gene_variant PACA-CA 16 4731294 4731294 deletion of <=200bp G - intron_variant PACA-CA 16 4731294 4731294 deletion of <=200bp G - upstream_gene_variant PACA-CA 16 4732289 4732289 single base substitution C T downstream_gene_variant PACA-CA 16 4732289 4732289 single base substitution C T intron_variant PACA-CA 16 4732437 4732437 single base substitution G A downstream_gene_variant PACA-CA 16 4732437 4732437 single base substitution G A intron_variant PACA-CA 16 4732928 4732928 single base substitution G A 3_prime_UTR_variant PACA-CA 16 4732928 4732928 single base substitution G A downstream_gene_variant PACA-CA 16 4732928 4732928 single base substitution G A exon_variant PACA-CA 16 4732928 4732928 single base substitution G A missense_variant R466Q 1397G>A PACA-CA 16 4732928 4732928 single base substitution G A missense_variant R467Q 1400G>A PACA-CA 16 4732928 4732928 single base substitution G A missense_variant R488Q 1463G>A PACA-CA 16 4732928 4732928 single base substitution G A missense_variant R527Q 1580G>A PACA-CA 16 4733941 4733941 single base substitution G T downstream_gene_variant PACA-CA 16 4733941 4733941 single base substitution G T splice_region_variant PACA-CA 16 4735544 4735544 single base substitution G T downstream_gene_variant PACA-CA 16 4735544 4735544 single base substitution G T intron_variant PACA-CA 16 4744127 4744127 single base substitution T A downstream_gene_variant PACA-CA 16 4744820 4744820 single base substitution A G downstream_gene_variant PAEN-AU 16 4694730 4694730 single base substitution A G intron_variant PAEN-AU 16 4706884 4706887 deletion of <=200bp AAAT - intron_variant PAEN-IT 16 4707013 4707013 single base substitution G A intron_variant PBCA-DE 16 4670338 4670338 single base substitution C T intron_variant PBCA-DE 16 4670338 4670338 single base substitution C T upstream_gene_variant PBCA-DE 16 4671369 4671369 single base substitution A T intron_variant PBCA-DE 16 4671369 4671369 single base substitution A T upstream_gene_variant PBCA-DE 16 4678192 4678192 single base substitution C G intron_variant PBCA-DE 16 4692031 4692031 single base substitution C T intron_variant PBCA-DE 16 4695907 4695907 single base substitution G A intron_variant PBCA-DE 16 4695907 4695907 single base substitution G A upstream_gene_variant PBCA-DE 16 4706750 4706750 single base substitution G A intron_variant PBCA-DE 16 4741141 4741141 single base substitution G A downstream_gene_variant PBCA-DE 16 4744974 4744974 single base substitution C T downstream_gene_variant PRAD-CA 16 4669234 4669234 single base substitution A G intron_variant PRAD-CA 16 4682257 4682257 single base substitution C T intron_variant PRAD-CA 16 4684303 4684303 single base substitution T G intron_variant PRAD-CA 16 4723866 4723866 single base substitution C T downstream_gene_variant PRAD-CA 16 4723866 4723866 single base substitution C T intron_variant PRAD-UK 16 4671623 4671623 single base substitution G A intron_variant PRAD-UK 16 4671623 4671623 single base substitution G A upstream_gene_variant PRAD-UK 16 4671624 4671624 single base substitution G T intron_variant PRAD-UK 16 4671624 4671624 single base substitution G T upstream_gene_variant PRAD-UK 16 4671625 4671625 single base substitution A T intron_variant PRAD-UK 16 4671625 4671625 single base substitution A T upstream_gene_variant PRAD-UK 16 4698788 4698788 single base substitution C T intron_variant PRAD-UK 16 4698788 4698788 single base substitution C T upstream_gene_variant PRAD-UK 16 4698818 4698818 single base substitution G A intron_variant PRAD-UK 16 4698818 4698818 single base substitution G A upstream_gene_variant PRAD-UK 16 4698828 4698828 single base substitution G A intron_variant PRAD-UK 16 4698828 4698828 single base substitution G A upstream_gene_variant PRAD-UK 16 4700505 4700505 single base substitution C T intron_variant PRAD-UK 16 4703129 4703129 single base substitution G A intron_variant PRAD-UK 16 4703588 4703589 deletion of <=200bp GA - intron_variant PRAD-UK 16 4705086 4705115 deletion of <=200bp TGGGGTTGAGTGTTTGACACCCACGGGGCC - intron_variant PRAD-UK 16 4711387 4711387 single base substitution C T downstream_gene_variant PRAD-UK 16 4711387 4711387 single base substitution C T intron_variant PRAD-UK 16 4711387 4711387 single base substitution C T upstream_gene_variant PRAD-UK 16 4737146 4737146 single base substitution C G 3_prime_UTR_variant PRAD-UK 16 4737146 4737146 single base substitution C G downstream_gene_variant PRAD-UK 16 4737146 4737146 single base substitution C G intron_variant PRAD-UK 16 4739715 4739715 single base substitution G C 3_prime_UTR_variant PRAD-UK 16 4739715 4739715 single base substitution G C downstream_gene_variant PRAD-UK 16 4740222 4740222 single base substitution T C 3_prime_UTR_variant PRAD-UK 16 4740222 4740222 single base substitution T C downstream_gene_variant PRAD-US 16 4744195 4744195 single base substitution G T downstream_gene_variant READ-US 16 4702754 4702754 single base substitution C T exon_variant READ-US 16 4702754 4702754 single base substitution C T synonymous_variant F124F 372C>T READ-US 16 4702754 4702754 single base substitution C T synonymous_variant F83F 249C>T READ-US 16 4702754 4702754 single base substitution C T synonymous_variant F86F 258C>T READ-US 16 4702754 4702754 single base substitution C T synonymous_variant F87F 261C>T RECA-EU 16 4674459 4674459 single base substitution G T intron_variant RECA-EU 16 4674459 4674459 single base substitution G T upstream_gene_variant RECA-EU 16 4676471 4676471 single base substitution G C intron_variant RECA-EU 16 4678950 4678950 single base substitution G T intron_variant RECA-EU 16 4708447 4708447 single base substitution G C downstream_gene_variant RECA-EU 16 4708447 4708447 single base substitution G C intron_variant RECA-EU 16 4711975 4711975 single base substitution C T downstream_gene_variant RECA-EU 16 4711975 4711975 single base substitution C T intron_variant RECA-EU 16 4711975 4711975 single base substitution C T upstream_gene_variant RECA-EU 16 4712237 4712237 single base substitution C A downstream_gene_variant RECA-EU 16 4712237 4712237 single base substitution C A intron_variant RECA-EU 16 4712237 4712237 single base substitution C A upstream_gene_variant RECA-EU 16 4716159 4716159 single base substitution C T intron_variant RECA-EU 16 4716159 4716159 single base substitution C T upstream_gene_variant RECA-EU 16 4729992 4729992 single base substitution G A downstream_gene_variant RECA-EU 16 4729992 4729992 single base substitution G A intron_variant RECA-EU 16 4729992 4729992 single base substitution G A upstream_gene_variant RECA-EU 16 4735915 4735915 single base substitution G A downstream_gene_variant RECA-EU 16 4735915 4735915 single base substitution G A intron_variant SKCA-BR 16 4661860 4661860 single base substitution T G upstream_gene_variant SKCA-BR 16 4666283 4666283 single base substitution C T upstream_gene_variant SKCA-BR 16 4666323 4666323 single base substitution C T upstream_gene_variant SKCA-BR 16 4670534 4670534 single base substitution A C intron_variant SKCA-BR 16 4670534 4670534 single base substitution A C upstream_gene_variant SKCA-BR 16 4670933 4670933 single base substitution G A intron_variant SKCA-BR 16 4670933 4670933 single base substitution G A upstream_gene_variant SKCA-BR 16 4673842 4673842 single base substitution C T intron_variant SKCA-BR 16 4673842 4673842 single base substitution C T upstream_gene_variant SKCA-BR 16 4675368 4675368 single base substitution T G intron_variant SKCA-BR 16 4675816 4675816 single base substitution C T intron_variant SKCA-BR 16 4677607 4677607 single base substitution G T intron_variant SKCA-BR 16 4677886 4677886 single base substitution C T intron_variant SKCA-BR 16 4678439 4678439 single base substitution G A intron_variant SKCA-BR 16 4681903 4681903 insertion of <=200bp - AGTT intron_variant SKCA-BR 16 4686279 4686279 single base substitution C T intron_variant SKCA-BR 16 4691222 4691222 single base substitution A G intron_variant SKCA-BR 16 4691435 4691435 single base substitution A T intron_variant SKCA-BR 16 4691516 4691518 deletion of <=200bp CTT - intron_variant SKCA-BR 16 4692061 4692061 single base substitution G A intron_variant SKCA-BR 16 4693571 4693571 single base substitution C T intron_variant SKCA-BR 16 4694236 4694236 single base substitution A C intron_variant SKCA-BR 16 4694577 4694577 single base substitution C T intron_variant SKCA-BR 16 4698576 4698576 single base substitution A C intron_variant SKCA-BR 16 4698576 4698576 single base substitution A C upstream_gene_variant SKCA-BR 16 4700961 4700961 single base substitution T A intron_variant SKCA-BR 16 4701842 4701842 single base substitution C T intron_variant SKCA-BR 16 4702664 4702664 single base substitution C T intron_variant SKCA-BR 16 4702686 4702686 single base substitution G A exon_variant SKCA-BR 16 4702686 4702686 single base substitution G A missense_variant D102N 304G>A SKCA-BR 16 4702686 4702686 single base substitution G A missense_variant D61N 181G>A SKCA-BR 16 4702686 4702686 single base substitution G A missense_variant D64N 190G>A SKCA-BR 16 4702686 4702686 single base substitution G A missense_variant D65N 193G>A SKCA-BR 16 4705013 4705013 single base substitution C T intron_variant SKCA-BR 16 4706679 4706679 single base substitution C T intron_variant SKCA-BR 16 4706927 4706927 single base substitution T A intron_variant SKCA-BR 16 4707208 4707208 single base substitution C T intron_variant SKCA-BR 16 4707980 4707980 single base substitution T A downstream_gene_variant SKCA-BR 16 4707980 4707980 single base substitution T A intron_variant SKCA-BR 16 4707986 4707986 single base substitution G A downstream_gene_variant SKCA-BR 16 4707986 4707986 single base substitution G A intron_variant SKCA-BR 16 4708165 4708165 single base substitution C T downstream_gene_variant SKCA-BR 16 4708165 4708165 single base substitution C T intron_variant SKCA-BR 16 4711144 4711145 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 16 4711144 4711145 deletion of <=200bp AT - intron_variant SKCA-BR 16 4711144 4711145 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 16 4713152 4713152 single base substitution C T intron_variant SKCA-BR 16 4713152 4713152 single base substitution C T upstream_gene_variant SKCA-BR 16 4715613 4715613 single base substitution A C intron_variant SKCA-BR 16 4715613 4715613 single base substitution A C upstream_gene_variant SKCA-BR 16 4716604 4716604 single base substitution T G intron_variant SKCA-BR 16 4716604 4716604 single base substitution T G upstream_gene_variant SKCA-BR 16 4717748 4717748 single base substitution C T intron_variant SKCA-BR 16 4717748 4717748 single base substitution C T upstream_gene_variant SKCA-BR 16 4722671 4722671 single base substitution G A intron_variant SKCA-BR 16 4722672 4722672 single base substitution G A intron_variant SKCA-BR 16 4725700 4725700 single base substitution A C downstream_gene_variant SKCA-BR 16 4725700 4725700 single base substitution A C intron_variant SKCA-BR 16 4725700 4725700 single base substitution A C upstream_gene_variant SKCA-BR 16 4733943 4733943 single base substitution T G downstream_gene_variant SKCA-BR 16 4733943 4733943 single base substitution T G intron_variant SKCA-BR 16 4733959 4733959 single base substitution A G downstream_gene_variant SKCA-BR 16 4733959 4733959 single base substitution A G intron_variant SKCA-BR 16 4734255 4734255 single base substitution C T downstream_gene_variant SKCA-BR 16 4734255 4734255 single base substitution C T intron_variant SKCA-BR 16 4734909 4734909 single base substitution C T downstream_gene_variant SKCA-BR 16 4734909 4734909 single base substitution C T intron_variant SKCA-BR 16 4737208 4737208 insertion of <=200bp - TC 3_prime_UTR_variant SKCA-BR 16 4737208 4737208 insertion of <=200bp - TC downstream_gene_variant SKCA-BR 16 4737208 4737208 insertion of <=200bp - TC intron_variant SKCA-BR 16 4738337 4738337 single base substitution C T 3_prime_UTR_variant SKCA-BR 16 4738337 4738337 single base substitution C T downstream_gene_variant SKCA-BR 16 4738337 4738337 single base substitution C T intron_variant SKCA-BR 16 4738389 4738389 single base substitution A C 3_prime_UTR_variant SKCA-BR 16 4738389 4738389 single base substitution A C downstream_gene_variant SKCA-BR 16 4738389 4738389 single base substitution A C intron_variant SKCA-BR 16 4738424 4738424 single base substitution A C 3_prime_UTR_variant SKCA-BR 16 4738424 4738424 single base substitution A C downstream_gene_variant SKCA-BR 16 4738424 4738424 single base substitution A C intron_variant SKCA-BR 16 4739768 4739769 deletion of <=200bp CT - 3_prime_UTR_variant SKCA-BR 16 4739768 4739769 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 16 4740799 4740799 single base substitution G C 3_prime_UTR_variant SKCA-BR 16 4740799 4740799 single base substitution G C downstream_gene_variant SKCA-BR 16 4743624 4743624 single base substitution A G downstream_gene_variant SKCA-BR 16 4744423 4744423 single base substitution T G downstream_gene_variant SKCA-BR 16 4744727 4744727 single base substitution G T downstream_gene_variant SKCA-BR 16 4744733 4744733 single base substitution A G downstream_gene_variant SKCM-US 16 4700391 4700391 single base substitution C T 5_prime_UTR_variant SKCM-US 16 4700391 4700391 single base substitution C T exon_variant SKCM-US 16 4700391 4700391 single base substitution C T synonymous_variant F1F 3C>T SKCM-US 16 4700391 4700391 single base substitution C T synonymous_variant F38F 114C>T SKCM-US 16 4700391 4700391 single base substitution C T upstream_gene_variant SKCM-US 16 4701967 4701967 single base substitution C T exon_variant SKCM-US 16 4701967 4701967 single base substitution C T missense_variant P30S 88C>T SKCM-US 16 4701967 4701967 single base substitution C T missense_variant P33S 97C>T SKCM-US 16 4701967 4701967 single base substitution C T missense_variant P34S 100C>T SKCM-US 16 4701967 4701967 single base substitution C T missense_variant P71S 211C>T SKCM-US 16 4723500 4723500 single base substitution C T missense_variant P148L 443C>T SKCM-US 16 4723500 4723500 single base substitution C T missense_variant P230L 689C>T SKCM-US 16 4723500 4723500 single base substitution C T missense_variant P266L 797C>T SKCM-US 16 4723500 4723500 single base substitution C T missense_variant P267L 800C>T SKCM-US 16 4723500 4723500 single base substitution C T missense_variant P305L 914C>T SKCM-US 16 4723500 4723500 single base substitution C T splice_region_variant SKCM-US 16 4723511 4723511 single base substitution G A exon_variant SKCM-US 16 4723511 4723511 single base substitution G A missense_variant E152K 454G>A SKCM-US 16 4723511 4723511 single base substitution G A missense_variant E234K 700G>A SKCM-US 16 4723511 4723511 single base substitution G A missense_variant E270K 808G>A SKCM-US 16 4723511 4723511 single base substitution G A missense_variant E271K 811G>A SKCM-US 16 4723511 4723511 single base substitution G A missense_variant E309K 925G>A SKCM-US 16 4731613 4731613 single base substitution C T 3_prime_UTR_variant SKCM-US 16 4731613 4731613 single base substitution C T downstream_gene_variant SKCM-US 16 4731613 4731613 single base substitution C T exon_variant SKCM-US 16 4731613 4731613 single base substitution C T synonymous_variant L376L 1128C>T SKCM-US 16 4731613 4731613 single base substitution C T synonymous_variant L377L 1131C>T SKCM-US 16 4731613 4731613 single base substitution C T synonymous_variant L398L 1194C>T SKCM-US 16 4731613 4731613 single base substitution C T synonymous_variant L437L 1311C>T SKCM-US 16 4731625 4731625 single base substitution C T 3_prime_UTR_variant SKCM-US 16 4731625 4731625 single base substitution C T downstream_gene_variant SKCM-US 16 4731625 4731625 single base substitution C T exon_variant SKCM-US 16 4731625 4731625 single base substitution C T synonymous_variant S380S 1140C>T SKCM-US 16 4731625 4731625 single base substitution C T synonymous_variant S381S 1143C>T SKCM-US 16 4731625 4731625 single base substitution C T synonymous_variant S402S 1206C>T SKCM-US 16 4731625 4731625 single base substitution C T synonymous_variant S441S 1323C>T SKCM-US 16 4731634 4731634 single base substitution C T 3_prime_UTR_variant SKCM-US 16 4731634 4731634 single base substitution C T downstream_gene_variant SKCM-US 16 4731634 4731634 single base substitution C T exon_variant SKCM-US 16 4731634 4731634 single base substitution C T synonymous_variant I383I 1149C>T SKCM-US 16 4731634 4731634 single base substitution C T synonymous_variant I384I 1152C>T SKCM-US 16 4731634 4731634 single base substitution C T synonymous_variant I405I 1215C>T SKCM-US 16 4731634 4731634 single base substitution C T synonymous_variant I444I 1332C>T SKCM-US 16 4732940 4732940 single base substitution C T 3_prime_UTR_variant SKCM-US 16 4732940 4732940 single base substitution C T downstream_gene_variant SKCM-US 16 4732940 4732940 single base substitution C T exon_variant SKCM-US 16 4732940 4732940 single base substitution C T missense_variant S470F 1409C>T SKCM-US 16 4732940 4732940 single base substitution C T missense_variant S471F 1412C>T SKCM-US 16 4732940 4732940 single base substitution C T missense_variant S492F 1475C>T SKCM-US 16 4732940 4732940 single base substitution C T missense_variant S531F 1592C>T STAD-US 16 4700414 4700414 deletion of <=200bp C - exon_variant STAD-US 16 4700414 4700414 deletion of <=200bp C - frameshift_variant T46 STAD-US 16 4700414 4700414 deletion of <=200bp C - frameshift_variant T5 STAD-US 16 4700414 4700414 deletion of <=200bp C - frameshift_variant T8 STAD-US 16 4700414 4700414 deletion of <=200bp C - frameshift_variant T9 STAD-US 16 4700454 4700454 single base substitution T C exon_variant STAD-US 16 4700454 4700454 single base substitution T C synonymous_variant D18D 54T>C STAD-US 16 4700454 4700454 single base substitution T C synonymous_variant D21D 63T>C STAD-US 16 4700454 4700454 single base substitution T C synonymous_variant D22D 66T>C STAD-US 16 4700454 4700454 single base substitution T C synonymous_variant D59D 177T>C STAD-US 16 4701983 4701983 deletion of <=200bp C - exon_variant STAD-US 16 4701983 4701983 deletion of <=200bp C - frameshift_variant A35 STAD-US 16 4701983 4701983 deletion of <=200bp C - frameshift_variant A38 STAD-US 16 4701983 4701983 deletion of <=200bp C - frameshift_variant A39 STAD-US 16 4701983 4701983 deletion of <=200bp C - frameshift_variant A76 STAD-US 16 4701990 4701990 single base substitution C T exon_variant STAD-US 16 4701990 4701990 single base substitution C T synonymous_variant H37H 111C>T STAD-US 16 4701990 4701990 single base substitution C T synonymous_variant H40H 120C>T STAD-US 16 4701990 4701990 single base substitution C T synonymous_variant H41H 123C>T STAD-US 16 4701990 4701990 single base substitution C T synonymous_variant H78H 234C>T STAD-US 16 4723603 4723603 single base substitution C A downstream_gene_variant STAD-US 16 4723603 4723603 single base substitution C A exon_variant STAD-US 16 4723603 4723603 single base substitution C A synonymous_variant T264T 792C>A STAD-US 16 4723603 4723603 single base substitution C A synonymous_variant T300T 900C>A STAD-US 16 4723603 4723603 single base substitution C A synonymous_variant T301T 903C>A STAD-US 16 4723603 4723603 single base substitution C A synonymous_variant T339T 1017C>A STAD-US 16 4723609 4723609 single base substitution C T downstream_gene_variant STAD-US 16 4723609 4723609 single base substitution C T exon_variant STAD-US 16 4723609 4723609 single base substitution C T synonymous_variant C266C 798C>T STAD-US 16 4723609 4723609 single base substitution C T synonymous_variant C302C 906C>T STAD-US 16 4723609 4723609 single base substitution C T synonymous_variant C303C 909C>T STAD-US 16 4723609 4723609 single base substitution C T synonymous_variant C341C 1023C>T STAD-US 16 4723611 4723611 single base substitution C T downstream_gene_variant STAD-US 16 4723611 4723611 single base substitution C T exon_variant STAD-US 16 4723611 4723611 single base substitution C T missense_variant A267V 800C>T STAD-US 16 4723611 4723611 single base substitution C T missense_variant A303V 908C>T STAD-US 16 4723611 4723611 single base substitution C T missense_variant A304V 911C>T STAD-US 16 4723611 4723611 single base substitution C T missense_variant A342V 1025C>T STAD-US 16 4723651 4723651 single base substitution C T downstream_gene_variant STAD-US 16 4723651 4723651 single base substitution C T exon_variant STAD-US 16 4723651 4723651 single base substitution C T synonymous_variant C280C 840C>T STAD-US 16 4723651 4723651 single base substitution C T synonymous_variant C316C 948C>T STAD-US 16 4723651 4723651 single base substitution C T synonymous_variant C317C 951C>T STAD-US 16 4723651 4723651 single base substitution C T synonymous_variant C355C 1065C>T STAD-US 16 4730034 4730034 single base substitution G A downstream_gene_variant STAD-US 16 4730034 4730034 single base substitution G A intron_variant STAD-US 16 4730034 4730034 single base substitution G A missense_variant C320Y 959G>A STAD-US 16 4730034 4730034 single base substitution G A missense_variant C356Y 1067G>A STAD-US 16 4730034 4730034 single base substitution G A missense_variant C395Y 1184G>A STAD-US 16 4730034 4730034 single base substitution G A splice_region_variant STAD-US 16 4730034 4730034 single base substitution G A upstream_gene_variant STAD-US 16 4731601 4731601 single base substitution G A 3_prime_UTR_variant STAD-US 16 4731601 4731601 single base substitution G A downstream_gene_variant STAD-US 16 4731601 4731601 single base substitution G A exon_variant STAD-US 16 4731601 4731601 single base substitution G A synonymous_variant A372A 1116G>A STAD-US 16 4731601 4731601 single base substitution G A synonymous_variant A373A 1119G>A STAD-US 16 4731601 4731601 single base substitution G A synonymous_variant A394A 1182G>A STAD-US 16 4731601 4731601 single base substitution G A synonymous_variant A433A 1299G>A STAD-US 16 4731615 4731615 single base substitution G A 3_prime_UTR_variant STAD-US 16 4731615 4731615 single base substitution G A downstream_gene_variant STAD-US 16 4731615 4731615 single base substitution G A exon_variant STAD-US 16 4731615 4731615 single base substitution G A missense_variant R377Q 1130G>A STAD-US 16 4731615 4731615 single base substitution G A missense_variant R378Q 1133G>A STAD-US 16 4731615 4731615 single base substitution G A missense_variant R399Q 1196G>A STAD-US 16 4731615 4731615 single base substitution G A missense_variant R438Q 1313G>A STAD-US 16 4732864 4732866 deletion of <=200bp GAG - 3_prime_UTR_variant STAD-US 16 4732864 4732866 deletion of <=200bp GAG - downstream_gene_variant STAD-US 16 4732864 4732866 deletion of <=200bp GAG - exon_variant STAD-US 16 4732864 4732866 deletion of <=200bp GAG - inframe_deletion E445 STAD-US 16 4732864 4732866 deletion of <=200bp GAG - inframe_deletion E446 STAD-US 16 4732864 4732866 deletion of <=200bp GAG - inframe_deletion E467 STAD-US 16 4732864 4732866 deletion of <=200bp GAG - inframe_deletion E506 STAD-US 16 4745111 4745111 single base substitution T C downstream_gene_variant THCA-SA 16 4727464 4727464 deletion of <=200bp C - downstream_gene_variant THCA-SA 16 4727464 4727464 deletion of <=200bp C - frameshift_variant P283 THCA-SA 16 4727464 4727464 deletion of <=200bp C - frameshift_variant P319 THCA-SA 16 4727464 4727464 deletion of <=200bp C - frameshift_variant P320 THCA-SA 16 4727464 4727464 deletion of <=200bp C - frameshift_variant P358 THCA-SA 16 4727464 4727464 deletion of <=200bp C - intron_variant THCA-SA 16 4727464 4727464 deletion of <=200bp C - splice_region_variant THCA-SA 16 4727464 4727464 deletion of <=200bp C - upstream_gene_variant THCA-SA 16 4737222 4737222 single base substitution C T 3_prime_UTR_variant THCA-SA 16 4737222 4737222 single base substitution C T downstream_gene_variant THCA-SA 16 4737222 4737222 single base substitution C T intron_variant THCA-SA 16 4745563 4745563 single base substitution G T downstream_gene_variant UCEC-US 16 4702761 4702761 single base substitution G A exon_variant UCEC-US 16 4702761 4702761 single base substitution G A missense_variant D127N 379G>A UCEC-US 16 4702761 4702761 single base substitution G A missense_variant D86N 256G>A UCEC-US 16 4702761 4702761 single base substitution G A missense_variant D89N 265G>A UCEC-US 16 4702761 4702761 single base substitution G A missense_variant D90N 268G>A UCEC-US 16 4702774 4702774 single base substitution C T exon_variant UCEC-US 16 4702774 4702774 single base substitution C T missense_variant A131V 392C>T UCEC-US 16 4702774 4702774 single base substitution C T missense_variant A90V 269C>T UCEC-US 16 4702774 4702774 single base substitution C T missense_variant A93V 278C>T UCEC-US 16 4702774 4702774 single base substitution C T missense_variant A94V 281C>T UCEC-US 16 4732878 4732878 single base substitution C T 3_prime_UTR_variant UCEC-US 16 4732878 4732878 single base substitution C T downstream_gene_variant UCEC-US 16 4732878 4732878 single base substitution C T exon_variant UCEC-US 16 4732878 4732878 single base substitution C T synonymous_variant S449S 1347C>T UCEC-US 16 4732878 4732878 single base substitution C T synonymous_variant S450S 1350C>T UCEC-US 16 4732878 4732878 single base substitution C T synonymous_variant S471S 1413C>T UCEC-US 16 4732878 4732878 single base substitution C T synonymous_variant S510S 1530C>T UCEC-US 16 4736259 4736259 single base substitution G T downstream_gene_variant UCEC-US 16 4736259 4736259 single base substitution G T intron_variant UCEC-US 16 4736259 4736259 single base substitution G T splice_acceptor_variant UCEC-US 16 4738831 4738831 single base substitution C T 3_prime_UTR_variant UCEC-US 16 4738831 4738831 single base substitution C T downstream_gene_variant UCEC-US 16 4738831 4738831 single base substitution C T synonymous_variant L529L 1587C>T UCEC-US 16 4738831 4738831 single base substitution C T synonymous_variant L551L 1653C>T UCEC-US 16 4738831 4738831 single base substitution C T synonymous_variant L590L 1770C>T UCEC-US 16 4744991 4744991 single base substitution C A downstream_gene_variant UCEC-US 16 4745040 4745040 single base substitution G A downstream_gene_variant UCEC-US 16 4745048 4745048 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-FS-A1ZK-06 COSM3509742 c.1194C>T p.L398L Substitution - coding silent 16:4681612-4681612 + TCGA-EK-A2RC-01 COSM4848551 c.1299C>T p.I433I Substitution - coding silent 16:4681717-4681717 + ESCC_5 COSM5623142 c.1221G>A p.S407S Substitution - coding silent 16:4681639-4681639 + OSCC-GB_00760111 COSM4887142 c.356G>A p.S119N Substitution - Missense 16:4652737-4652737 + TCGA-AG-A002-01 COSM262012 c.513C>A p.F171L Substitution - Missense 16:4657315-4657315 + Pat_24_A COSM5850941 c.733C>T p.R245W Substitution - Missense 16:4671397-4671397 + CHC892T COSM4960426 c.1583G>A p.C528Y Substitution - Missense 16:4683897-4683897 + TCGA-G2-A3IE-01 COSM1301988 c.773A>T p.N258I Substitution - Missense 16:4671437-4671437 + sysucc-1370T COSM5470519 c.1398T>C p.D466D Substitution - coding silent 16:4682862-4682862 + LC_S11 COSM1191084 c.1074_1075insT p.K359fs*1 Insertion - Frameshift 16:4680040-4680041 + CHC2141T COSM4790150 c.586G>T p.V196L Substitution - Missense 16:4664733-4664733 + TCGA-DK-A3WW-01 COSM3794859 c.27C>G p.I9M Substitution - Missense 16:4624987-4624987 + sysucc-773T COSM5460302 c.1030G>A p.V344I Substitution - Missense 16:4677537-4677537 + AOCS-108-1-7 COSM3948553 c.975G>A p.Q325Q Substitution - coding silent 16:4677482-4677482 + LC_C21 COSM1189170 c.1205C>G p.S402C Substitution - Missense 16:4681623-4681623 + TCGA-EW-A1PD-01 COSM1478887 c.630G>T p.V210V Substitution - coding silent 16:4665103-4665103 + STC246 COSM5054895 c.1512G>A p.S504S Substitution - coding silent 16:4683253-4683253 + PTC_285 COSM5959019 c.956delC p.P319fs*179 Deletion - Frameshift 16:4677463-4677463 + 18 COSM2921044 c.649G>A p.A217T Substitution - Missense 16:4665122-4665122 + YUKAT COSM5384898 c.960C>T p.F320F Substitution - coding silent 16:4677467-4677467 + TCGA-CG-5728-01 COSM4060835 c.906C>T p.C302C Substitution - coding silent 16:4673608-4673608 + TCGA-D3-A51G-06 COSM3509744 c.1206C>T p.S402S Substitution - coding silent 16:4681624-4681624 + TCGA-HF-7132-01 COSM4060833 c.900C>A p.T300T Substitution - coding silent 16:4673602-4673602 + TCGA-DZ-6131-01 COSM3988485 c.191G>T p.G64V Substitution - Missense 16:4650467-4650467 + 177T COSM1726103 c.293T>G p.V98G Substitution - Missense 16:4652048-4652048 + TCGA-CK-5916-01 COSM3691020 c.858G>T p.R286R Substitution - coding silent 16:4673560-4673560 + 389 COSM4427598 c.1495G>A p.E499K Substitution - Missense 16:4683236-4683236 + BD124T COSM5493380 c.1432delC p.P479fs*19 Deletion - Frameshift 16:4682896-4682896 + TCGA-G7-6792-01 COSM3988489 c.1151C>A p.P384H Substitution - Missense 16:4681569-4681569 + 1339-01-03TD COSM5417931 c.1124G>A p.R375K Substitution - Missense 16:4680090-4680090 + TCGA-AP-A0LF-01 COSM1152988 c.470A>T p.Q157L Substitution - Missense 16:4657272-4657272 + TCGA-BS-A0UV-01 COSM1588447 c.1413C>T p.S471S Substitution - coding silent 16:4682877-4682877 + HDC101 COSM4635941 c.1181C>T p.A394V Substitution - Missense 16:4681599-4681599 + TCGA-JW-A852-01 COSM4823771 c.137C>A p.T46N Substitution - Missense 16:4650413-4650413 + TCGA-CK-5916-01 COSM3691019 c.858G>T p.R286R Substitution - coding silent 16:4673560-4673560 + TCGA-DK-A3WW-01 COSM3794858 c.27C>G p.I9M Substitution - Missense 16:4624987-4624987 + pfg145T COSM4749069 c.800C>T p.S267L Substitution - Missense 16:4673502-4673502 + CHC918T COSM3667857 c.1316G>A p.S439N Substitution - Missense 16:4681734-4681734 + Pat_28_B COSM5850947 c.1381C>T p.P461S Substitution - Missense 16:4682845-4682845 + ESO-717 COSM1242510 c.866T>C p.L289P Substitution - Missense 16:4673568-4673568 + TCGA-BR-8368-01 COSM4060844 c.1182G>A p.A394A Substitution - coding silent 16:4681600-4681600 + TCGA-41-2573-01 COSM3402331 c.1322G>A p.R441H Substitution - Missense 16:4681740-4681740 + TCGA-EE-A2GI-06 COSM3509737 c.808G>A p.E270K Substitution - Missense 16:4673510-4673510 + TCGA-HU-A4H4-01 COSM4060838 c.948C>T p.C316C Substitution - coding silent 16:4673650-4673650 + TCGA-JW-A852-01 COSM4823770 c.137C>A p.T46N Substitution - Missense 16:4650413-4650413 + CHC2141T COSM4790149 c.586G>T p.V196L Substitution - Missense 16:4664733-4664733 + PTC_285 COSM5959018 c.956delC p.P319fs*179 Deletion - Frameshift 16:4677463-4677463 + CHC892T COSM4960427 c.1583G>A p.C528Y Substitution - Missense 16:4683897-4683897 + BCM735T COSM4790661 c.1707C>T p.S569S Substitution - coding silent 16:4688884-4688884 + 18T COSM108459 c.1432C>T p.P478S Substitution - Missense 16:4682896-4682896 + BHY COSM4592718 c.376G>A p.A126T Substitution - Missense 16:4652757-4652757 + TCGA-AG-3906-01 COSM5069858 c.858_955+301del399 p.? Unknown 16:4673560-4673958 + T2269 COSM4702056 c.816C>T p.S272S Substitution - coding silent 16:4673518-4673518 + CHC918T COSM3667858 c.1316G>A p.S439N Substitution - Missense 16:4681734-4681734 + ESO-0123 COSM1257688 c.1263C>T p.D421D Substitution - coding silent 16:4681681-4681681 + TCGA-D3-A51G-06 COSM3509743 c.1206C>T p.S402S Substitution - coding silent 16:4681624-4681624 + CH-LA6 COSM4166364 c.1482G>A p.E494E Substitution - coding silent 16:4682946-4682946 + LUAD-RT-S01699 COSM378210 c.1265G>A p.G422D Substitution - Missense 16:4681683-4681683 + TCGA-25-2398-01 COSM71639 c.698C>T p.S233F Substitution - Missense 16:4668284-4668284 + HCA7 COSM4630217 c.1576G>A p.E526K Substitution - Missense 16:4683890-4683890 + 587338 COSM1215051 c.989G>A p.R330Q Substitution - Missense 16:4677496-4677496 + Pat_41_B COSM5850945 c.1294G>A p.A432T Substitution - Missense 16:4681712-4681712 + TCGA-CG-5723-01 COSM4060823 c.177T>C p.D59D Substitution - coding silent 16:4650453-4650453 + TCGA-CD-A4MG-01 COSM4060846 c.1196G>A p.R399Q Substitution - Missense 16:4681614-4681614 + TCGA-A6-6780-01 COSM1378032 c.1563G>T p.Q521H Substitution - Missense 16:4683877-4683877 + LIM1899 COSM4613024 c.136_137insC p.H48fs*3 Insertion - Frameshift 16:4650412-4650413 + TCGA-FS-A1ZK-06 COSM3509726 c.211C>T p.P71S Substitution - Missense 16:4651966-4651966 + CN-AML-08-T COSM148012 c.795+8T>C p.? Unknown 16:4671467-4671467 + CHC2141T COSM4790149 c.586G>T p.V196L Substitution - Missense 16:4664733-4664733 + PCSI_0472_Pa_P_526 COSM5031590 c.1463G>A p.R488Q Substitution - Missense 16:4682927-4682927 + TCGA-BR-4257-01 COSM4060826 c.234C>T p.H78H Substitution - coding silent 16:4651989-4651989 + CSCC-18-T COSM4572731 c.845T>A p.L282Q Substitution - Missense 16:4673547-4673547 + CSCC-11-T COSM4515982 c.1476_1477CC>TT p.P493S Substitution - Missense 16:4682940-4682941 + TCGA-IR-A3LL-01 COSM3794858 c.27C>G p.I9M Substitution - Missense 16:4624987-4624987 + T2269 COSM4702055 c.816C>T p.S272S Substitution - coding silent 16:4673518-4673518 + TCGA-AZ-6598-01 COSM1378022 c.1447G>A p.A483T Substitution - Missense 16:4682911-4682911 + CHC2141T COSM4790150 c.586G>T p.V196L Substitution - Missense 16:4664733-4664733 + sysucc-773T COSM5460303 c.1030G>A p.V344I Substitution - Missense 16:4677537-4677537 + TCGA-EE-A2GO-06 COSM3509736 c.797C>T p.P266L Substitution - Missense 16:4673499-4673499 + TCGA-AZ-6601-01 COSM1378001 c.226_227insC p.H78fs*102 Insertion - Frameshift 16:4651981-4651982 + TCGA-G7-6792-01 COSM3988488 c.1151C>A p.P384H Substitution - Missense 16:4681569-4681569 + TCGA-FS-A1ZK-06 COSM3509741 c.1194C>T p.L398L Substitution - coding silent 16:4681612-4681612 + TCGA-19-5958-01 COSM2156838 c.1170G>A p.S390S Substitution - coding silent 16:4681588-4681588 + RKO COSM2920990 c.159C>A p.L53L Substitution - coding silent 16:4650435-4650435 + TCGA-EI-6917-01 COSM3421000 c.372C>T p.F124F Substitution - coding silent 16:4652753-4652753 + TCGA-GF-A6C9-06 COSM4900462 c.114C>T p.F38F Substitution - coding silent 16:4650390-4650390 + HCA7 COSM4630218 c.1576G>A p.E526K Substitution - Missense 16:4683890-4683890 + TCGA-B7-5816-01 COSM4060836 c.908C>T p.A303V Substitution - Missense 16:4673610-4673610 + TCGA-AG-3592-01 COSM5066689 c.1249T>C p.S417P Substitution - Missense 16:4681667-4681667 + 01-P8014 COSM4579046 c.325G>A p.E109K Substitution - Missense 16:4652706-4652706 + SC_9020 COSM5564649 c.494G>C p.R165T Substitution - Missense 16:4657296-4657296 + TCGA-BS-A0UV-01 COSM970823 c.1413C>T p.S471S Substitution - coding silent 16:4682877-4682877 + CSCC-31-T COSM4465581 c.138C>T p.T46T Substitution - coding silent 16:4650414-4650414 + TCGA-HT-7604-01 COSM2921137 c.1446C>T p.G482G Substitution - coding silent 16:4682910-4682910 + PCSI_0240_Pa_P_526 COSM4965592 c.1618+8G>T p.? Unknown 16:4683940-4683940 + T3094 COSM4702060 c.1209G>A p.P403P Substitution - coding silent 16:4681627-4681627 + CSCC-18-T COSM4572730 c.845T>A p.L282Q Substitution - Missense 16:4673547-4673547 + TCGA-F4-6856-01 COSM1378018 c.1295C>A p.A432D Substitution - Missense 16:4681713-4681713 + BD124T COSM5493381 c.1432delC p.P479fs*19 Deletion - Frameshift 16:4682896-4682896 + SC_9020 COSM5564648 c.494G>C p.R165T Substitution - Missense 16:4657296-4657296 + CN-AML-NR-08-Dx COSM5426199 c.795+8T>C p.? Unknown 16:4671467-4671467 + 472 COSM4437935 c.1048G>C p.E350Q Substitution - Missense 16:4677555-4677555 + TCGA-EE-A29D-06 COSM3888545 c.1475C>T p.S492F Substitution - Missense 16:4682939-4682939 + 3N48-VS-3T48 COSM4982713 c.1603G>T p.D535Y Substitution - Missense 16:4683917-4683917 + BCM735T COSM4790661 c.1707C>T p.S569S Substitution - coding silent 16:4688884-4688884 + HCT8 COSM2921089 c.864G>A p.T288T Substitution - coding silent 16:4673566-4673566 + CN-AML-NR-08-Dx COSM148012 c.795+8T>C p.? Unknown 16:4671467-4671467 + TCGA-AZ-6601-01 COSM1378000 c.226_227insC p.H78fs*102 Insertion - Frameshift 16:4651981-4651982 + TCGA-D9-A1JX-06 COSM3509727 c.211C>T p.P71S Substitution - Missense 16:4651966-4651966 + OSCC-GB_00760111 COSM4887143 c.356G>A p.S119N Substitution - Missense 16:4652737-4652737 + HCT15 COSM2921089 c.864G>A p.T288T Substitution - coding silent 16:4673566-4673566 + CRC-02T COSM5454454 c.849C>T p.S283S Substitution - coding silent 16:4673551-4673551 + CHC434T COSM3667855 c.657G>T p.V219V Substitution - coding silent 16:4665130-4665130 + HN_62854 COSM124433 c.1480G>A p.E494K Substitution - Missense 16:4682944-4682944 + ESO-717 COSM1242509 c.866T>C p.L289P Substitution - Missense 16:4673568-4673568 + TCGA-EE-A2GO-06 COSM3509746 c.1215C>T p.I405I Substitution - coding silent 16:4681633-4681633 + 2318492 COSM4776970 c.80C>A p.P27Q Substitution - Missense 16:4625040-4625040 + TCGA-FS-A1ZK-06 COSM3509727 c.211C>T p.P71S Substitution - Missense 16:4651966-4651966 + 2521259 COSM5890922 c.1205C>T p.S402F Substitution - Missense 16:4681623-4681623 + TCGA-D9-A1JX-06 COSM3509726 c.211C>T p.P71S Substitution - Missense 16:4651966-4651966 + TCGA-HF-7132-01 COSM4060841 c.1067G>A p.C356Y Substitution - Missense 16:4680033-4680033 + 01-P8014 COSM4579045 c.325G>A p.E109K Substitution - Missense 16:4652706-4652706 + 587338 COSM1215052 c.989G>A p.R330Q Substitution - Missense 16:4677496-4677496 + TCGA-D1-A177-01 COSM970826 c.1653C>T p.L551L Substitution - coding silent 16:4688830-4688830 + CSCC-29-T COSM4498152 c.513C>T p.F171F Substitution - coding silent 16:4657315-4657315 + CN-AML-08-T COSM5426199 c.795+8T>C p.? Unknown 16:4671467-4671467 + J73_T COSM3957583 c.234C>G p.H78Q Substitution - Missense 16:4651989-4651989 + CSCC-31-T COSM4463343 c.1287C>T p.P429P Substitution - coding silent 16:4681705-4681705 + Pat_41_B COSM5850949 c.1568G>A p.S523N Substitution - Missense 16:4683882-4683882 + PS-352-5D COSM4424112 c.577G>A p.D193N Substitution - Missense 16:4664724-4664724 + C086 COSM3509742 c.1194C>T p.L398L Substitution - coding silent 16:4681612-4681612 + T3099 COSM4702053 c.132C>T p.F44F Substitution - coding silent 16:4650408-4650408 + CSCC-59-T COSM4529572 c.1622G>C p.R541P Substitution - Missense 16:4688799-4688799 + CHC434T COSM3667855 c.657G>T p.V219V Substitution - coding silent 16:4665130-4665130 + 2521259 COSM5890921 c.1205C>T p.S402F Substitution - Missense 16:4681623-4681623 + TCGA-B5-A11E-01 COSM970825 c.1619-1G>T p.? Unknown 16:4686258-4686258 + PACA1130 COSM1157882 c.1714G>A p.E572K Substitution - Missense 16:4688891-4688891 + GC8_T COSM148012 c.795+8T>C p.? Unknown 16:4671467-4671467 + 8044814 COSM1157882 c.1714G>A p.E572K Substitution - Missense 16:4688891-4688891 + 2318492 COSM4776971 c.80C>A p.P27Q Substitution - Missense 16:4625040-4625040 + Pat_15_A COSM5850943 c.1286C>T p.P429L Substitution - Missense 16:4681704-4681704 + Pat_15_A COSM5850944 c.1286C>T p.P429L Substitution - Missense 16:4681704-4681704 + CHC892T COSM4960426 c.1583G>A p.C528Y Substitution - Missense 16:4683897-4683897 + HCT15 COSM2921113 c.1099T>G p.S367A Substitution - Missense 16:4680065-4680065 + TCGA-B7-5816-01 COSM4060837 c.908C>T p.A303V Substitution - Missense 16:4673610-4673610 + 8069216 COSM3771950 c.1648G>A p.G550S Substitution - Missense 16:4688825-4688825 + RKO COSM2920991 c.159C>A p.L53L Substitution - coding silent 16:4650435-4650435 + 472 COSM4437934 c.1048G>C p.E350Q Substitution - Missense 16:4677555-4677555 + TCGA-BR-8368-01 COSM4060843 c.1182G>A p.A394A Substitution - coding silent 16:4681600-4681600 + ESCC_5 COSM5623141 c.1221G>A p.S407S Substitution - coding silent 16:4681639-4681639 + TCGA-F4-6856-01 COSM1378017 c.1295C>A p.A432D Substitution - Missense 16:4681713-4681713 + pfg145T COSM4749068 c.800C>T p.S267L Substitution - Missense 16:4673502-4673502 + LUAD-S01315 COSM344433 c.955+1G>A p.? Unknown 16:4673658-4673658 + CSCC-29-T COSM4498151 c.513C>T p.F171F Substitution - coding silent 16:4657315-4657315 + 234 COSM3730541 c.375C>T p.D125D Substitution - coding silent 16:4652756-4652756 + DLD1 COSM2921089 c.864G>A p.T288T Substitution - coding silent 16:4673566-4673566 + 234 COSM3730540 c.375C>T p.D125D Substitution - coding silent 16:4652756-4652756 + TCGA-CG-5728-01 COSM4060834 c.906C>T p.C302C Substitution - coding silent 16:4673608-4673608 + TCGA-CJ-4875-01 COSM3361771 c.756G>T p.E252D Substitution - Missense 16:4671420-4671420 + CSCC-35-T COSM4549545 c.475G>A p.E159K Substitution - Missense 16:4657277-4657277 + CHC917T COSM3667858 c.1316G>A p.S439N Substitution - Missense 16:4681734-4681734 + 4-08-T1 COSM2921130 c.1389C>T p.H463H Substitution - coding silent 16:4682853-4682853 + CSCC-29-T COSM4469981 c.1632C>A p.S544S Substitution - coding silent 16:4688809-4688809 + TCGA-D1-A17R-01 COSM1152987 c.392C>T p.A131V Substitution - Missense 16:4652773-4652773 + TCGA-HU-A4H4-01 COSM4060839 c.948C>T p.C316C Substitution - coding silent 16:4673650-4673650 + TCGA-EP-A2KB-01 COSM4921490 c.670T>C p.F224L Substitution - Missense 16:4665143-4665143 + TCGA-AP-A0LM-01 COSM1588448 c.379G>A p.D127N Substitution - Missense 16:4652760-4652760 + Pat_15_B COSM5850943 c.1286C>T p.P429L Substitution - Missense 16:4681704-4681704 + ESO-0123 COSM1257689 c.1263C>T p.D421D Substitution - coding silent 16:4681681-4681681 + 1339-01-03TD COSM5417932 c.1124G>A p.R375K Substitution - Missense 16:4680090-4680090 + TCGA-IR-A3LA-01 COSM970826 c.1653C>T p.L551L Substitution - coding silent 16:4688830-4688830 + 389 COSM4427599 c.1495G>A p.E499K Substitution - Missense 16:4683236-4683236 + C086 COSM3509741 c.1194C>T p.L398L Substitution - coding silent 16:4681612-4681612 + TCGA-EI-6917-01 COSM3420999 c.372C>T p.F124F Substitution - coding silent 16:4652753-4652753 + sysucc-1317T COSM5448872 c.628+6T>A p.? Unknown 16:4664781-4664781 + sysucc-1317T COSM5448873 c.628+6T>A p.? Unknown 16:4664781-4664781 + TCGA-DZ-6131-01 COSM3988486 c.191G>T p.G64V Substitution - Missense 16:4650467-4650467 + 4-08-T1 COSM2921131 c.1389C>T p.H463H Substitution - coding silent 16:4682853-4682853 + J73_T COSM3957582 c.234C>G p.H78Q Substitution - Missense 16:4651989-4651989 + TCGA-EE-A2GO-06 COSM3509735 c.797C>T p.P266L Substitution - Missense 16:4673499-4673499 + TCGA-B8-5549-01 COSM1135795 c.1047G>A p.L349L Substitution - coding silent 16:4677554-4677554 + I2L-P7-Tumor-Organoid COSM5363262 c.1482+7delC p.? Unknown 16:4682953-4682953 + SW403 COSM4260364 c.1419C>T p.D473D Substitution - coding silent 16:4682883-4682883 + LC_C21 COSM1189169 c.1205C>G p.S402C Substitution - Missense 16:4681623-4681623 + TCGA-23-1120-01 COSM112017 c.176_177insGCCG p.D59fs*122 Insertion - Frameshift 16:4650452-4650453 + Pat_41_B COSM5850950 c.1568G>A p.S523N Substitution - Missense 16:4683882-4683882 + CHC434T COSM3667856 c.657G>T p.V219V Substitution - coding silent 16:4665130-4665130 + TCGA-BR-4257-01 COSM4060825 c.234C>T p.H78H Substitution - coding silent 16:4651989-4651989 + TCGA-61-2109-01 COSM116352 c.179T>G p.L60R Substitution - Missense 16:4650455-4650455 + TCGA-41-2573-01 COSM3402332 c.1322G>A p.R441H Substitution - Missense 16:4681740-4681740 + CHC917T COSM3667857 c.1316G>A p.S439N Substitution - Missense 16:4681734-4681734 + RMS105_ COSM4986213 c.55G>A p.A19T Substitution - Missense 16:4625015-4625015 + T231 COSM4702058 c.979C>T p.R327W Substitution - Missense 16:4677486-4677486 + TCGA-EK-A2RC-01 COSM4848550 c.1299C>T p.I433I Substitution - coding silent 16:4681717-4681717 + TCGA-G4-6628-01 COSM1378002 c.396C>A p.I132I Substitution - coding silent 16:4652777-4652777 + SW403 COSM4260363 c.1419C>T p.D473D Substitution - coding silent 16:4682883-4682883 + TCGA-CM-4743-01 COSM1378029 c.1534C>T p.R512* Substitution - Nonsense 16:4683848-4683848 + TCGA-CM-4743-01 COSM1378030 c.1534C>T p.R512* Substitution - Nonsense 16:4683848-4683848 + CHEWS008 COSM4579047 c.341C>T p.P114L Substitution - Missense 16:4652722-4652722 + BD57T COSM2920988 c.137delC p.H48fs*13 Deletion - Frameshift 16:4650413-4650413 + BD57T COSM2920989 c.137delC p.H48fs*13 Deletion - Frameshift 16:4650413-4650413 + 3N48-VS-3T48 COSM4982712 c.1603G>T p.D535Y Substitution - Missense 16:4683917-4683917 + T231 COSM4702057 c.979C>T p.R327W Substitution - Missense 16:4677486-4677486 + SNU-175 COSM2921098 c.983C>T p.A328V Substitution - Missense 16:4677490-4677490 + TCGA-HF-7132-01 COSM4060832 c.900C>A p.T300T Substitution - coding silent 16:4673602-4673602 + TCGA-EE-A29D-06 COSM3888546 c.1475C>T p.S492F Substitution - Missense 16:4682939-4682939 + PR-00-1165 COSM245673 c.248C>T p.T83M Substitution - Missense 16:4652003-4652003 + HCT15 COSM2921088 c.864G>A p.T288T Substitution - coding silent 16:4673566-4673566 + CHEWS008 COSM4579048 c.341C>T p.P114L Substitution - Missense 16:4652722-4652722 + TCGA-A8-A07R-01 COSM435277 c.816C>G p.S272R Substitution - Missense 16:4673518-4673518 + T3099 COSM4702054 c.132C>T p.F44F Substitution - coding silent 16:4650408-4650408 + YUKAT COSM5384896 c.101C>T p.A34V Substitution - Missense 16:4650377-4650377 + CSCC-11-T COSM4515981 c.1476_1477CC>TT p.P493S Substitution - Missense 16:4682940-4682941 + TCGA-G4-6628-01 COSM1378003 c.396C>A p.I132I Substitution - coding silent 16:4652777-4652777 + HDC101 COSM4635942 c.1181C>T p.A394V Substitution - Missense 16:4681599-4681599 + CHC917T COSM3667858 c.1316G>A p.S439N Substitution - Missense 16:4681734-4681734 + CHC892T COSM4960427 c.1583G>A p.C528Y Substitution - Missense 16:4683897-4683897 + CSCC-35-T COSM4549546 c.475G>A p.E159K Substitution - Missense 16:4657277-4657277 + LC_S11 COSM1191085 c.1074_1075insT p.K359fs*1 Insertion - Frameshift 16:4680040-4680041 + TCGA-CD-A4MG-01 COSM4060845 c.1196G>A p.R399Q Substitution - Missense 16:4681614-4681614 + I2L-P7-Tumor-Organoid COSM5363744 c.65C>T p.A22V Substitution - Missense 16:4625025-4625025 + TCGA-19-5958-01 COSM2156837 c.1170G>A p.S390S Substitution - coding silent 16:4681588-4681588 + TCGA-19-5958 COSM2156838 c.1170G>A p.S390S Substitution - coding silent 16:4681588-4681588 + PCSI_0240_Pa_P_526 COSM4965593 c.1618+8G>T p.? Unknown 16:4683940-4683940 + STC246 COSM5054896 c.1512G>A p.S504S Substitution - coding silent 16:4683253-4683253 + TCGA-EW-A1PD-01 COSM1478886 c.630G>T p.V210V Substitution - coding silent 16:4665103-4665103 + TCGA-EP-A2KB-01 COSM4921491 c.670T>C p.F224L Substitution - Missense 16:4665143-4665143 + pfg143T COSM4746542 c.227delC p.H78fs*4 Deletion - Frameshift 16:4651982-4651982 + CSCC-31-T COSM4465580 c.138C>T p.T46T Substitution - coding silent 16:4650414-4650414 + YUKAT COSM5384895 c.101C>T p.A34V Substitution - Missense 16:4650377-4650377 + I2L-P7-Tumor-Organoid COSM5363261 c.1482+7delC p.? Unknown 16:4682953-4682953 + TCGA-G2-A3IE-01 COSM1301987 c.773A>T p.N258I Substitution - Missense 16:4671437-4671437 + TCGA-CJ-4875-01 COSM3361772 c.756G>T p.E252D Substitution - Missense 16:4671420-4671420 + TCGA-AP-A0LF-01 COSM970809 c.470A>T p.Q157L Substitution - Missense 16:4657272-4657272 + TCGA-GF-A6C9-06 COSM4900463 c.114C>T p.F38F Substitution - coding silent 16:4650390-4650390 + PCSI_0472_Pa_P_526 COSM5031589 c.1463G>A p.R488Q Substitution - Missense 16:4682927-4682927 + PD8828a COSM4260364 c.1419C>T p.D473D Substitution - coding silent 16:4682883-4682883 + PD8828a COSM4260363 c.1419C>T p.D473D Substitution - coding silent 16:4682883-4682883 + TCGA-AG-A002-01 COSM262013 c.910G>A p.D304N Substitution - Missense 16:4673612-4673612 + TCGA-AZ-6598-01 COSM1378021 c.1447G>A p.A483T Substitution - Missense 16:4682911-4682911 + DLD1 COSM2921088 c.864G>A p.T288T Substitution - coding silent 16:4673566-4673566 + YUKAT COSM5384899 c.960C>T p.F320F Substitution - coding silent 16:4677467-4677467 + TCGA-IR-A3LL-01 COSM3794859 c.27C>G p.I9M Substitution - Missense 16:4624987-4624987 + Pat_15_B COSM5850944 c.1286C>T p.P429L Substitution - Missense 16:4681704-4681704 + LIM1899 COSM4613025 c.136_137insC p.H48fs*3 Insertion - Frameshift 16:4650412-4650413 + CHC917T COSM3667857 c.1316G>A p.S439N Substitution - Missense 16:4681734-4681734 + 8031644 COSM3387444 c.787G>T p.E263* Substitution - Nonsense 16:4671451-4671451 + TCGA-HF-7132-01 COSM4060842 c.1067G>A p.C356Y Substitution - Missense 16:4680033-4680033 + HN_62854 COSM124432 c.1399G>A p.E467K Substitution - Missense 16:4682863-4682863 + 177T COSM1726102 c.293T>G p.V98G Substitution - Missense 16:4652048-4652048 + BHY COSM4592717 c.376G>A p.A126T Substitution - Missense 16:4652757-4652757 + CRC-02T COSM5454455 c.849C>T p.S283S Substitution - coding silent 16:4673551-4673551 + TCGA-D1-A17R-01 COSM970808 c.392C>T p.A131V Substitution - Missense 16:4652773-4652773 + 18 COSM2921045 c.649G>A p.A217T Substitution - Missense 16:4665122-4665122 + HCT15 COSM2921112 c.1099T>G p.S367A Substitution - Missense 16:4680065-4680065 + AOCS-108-1-7 COSM3948552 c.975G>A p.Q325Q Substitution - coding silent 16:4677482-4677482 + TCGA-EE-A2GI-06 COSM3509738 c.808G>A p.E270K Substitution - Missense 16:4673510-4673510 + TCGA-AP-A0LM-01 COSM970807 c.379G>A p.D127N Substitution - Missense 16:4652760-4652760 + sysucc-1370T COSM5470518 c.1398T>C p.D466D Substitution - coding silent 16:4682862-4682862 + LUAD-F00282 COSM391701 c.1179delG p.A394fs*104 Deletion - Frameshift 16:4681597-4681597 + Pat_24_A COSM5850942 c.733C>T p.R245W Substitution - Missense 16:4671397-4671397 + TCGA-B8-5549-01 COSM471742 c.1047G>A p.L349L Substitution - coding silent 16:4677554-4677554 + I2L-P7-Tumor-Organoid COSM5363745 c.65C>T p.A22V Substitution - Missense 16:4625025-4625025 + Pat_41_B COSM5850946 c.1294G>A p.A432T Substitution - Missense 16:4681712-4681712 + PS-352-5D COSM4424113 c.577G>A p.D193N Substitution - Missense 16:4664724-4664724 + CSCC-31-T COSM4463342 c.1287C>T p.P429P Substitution - coding silent 16:4681705-4681705 + CHC434T COSM3667856 c.657G>T p.V219V Substitution - coding silent 16:4665130-4665130 + TCGA-A6-6780-01 COSM1378031 c.1563G>T p.Q521H Substitution - Missense 16:4683877-4683877 + CH-LA6 COSM4166363 c.1482G>A p.E494E Substitution - coding silent 16:4682946-4682946 + TCGA-HT-7604-01 COSM2921136 c.1446C>T p.G482G Substitution - coding silent 16:4682910-4682910 + HCT8 COSM2921088 c.864G>A p.T288T Substitution - coding silent 16:4673566-4673566 + RMS105_ COSM4986212 c.55G>A p.A19T Substitution - Missense 16:4625015-4625015 + 8031644 COSM3387445 c.787G>T p.E263* Substitution - Nonsense 16:4671451-4671451 + T3094 COSM4702059 c.1209G>A p.P403P Substitution - coding silent 16:4681627-4681627 + TCGA-EE-A2GO-06 COSM3509745 c.1215C>T p.I405I Substitution - coding silent 16:4681633-4681633 + SNU-175 COSM2921097 c.983C>T p.A328V Substitution - Missense 16:4677490-4677490 + TCGA-CG-5723-01 COSM4060822 c.177T>C p.D59D Substitution - coding silent 16:4650453-4650453 + Pat_28_B COSM5850948 c.1381C>T p.P461S Substitution - Missense 16:4682845-4682845 + TCGA-19-5958 COSM2156837 c.1170G>A p.S390S Substitution - coding silent 16:4681588-4681588 + TCGA-A8-A07R-01 COSM1478888 c.816C>G p.S272R Substitution - Missense 16:4673518-4673518 + pfg143T COSM4746543 c.227delC p.H78fs*4 Deletion - Frameshift 16:4651982-4651982 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.526484;Hs.526494 16p13.3 607559

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.P383P c.1149A>C 16 4731568 LUAD A T Missense p.N258I c.773A>T 16 4721438 BLCA CC TT IntronicBlockSubstitution . c.562-142_562-141delinsTT 16 4714568 CM C G Missense p.S272R c.816C>G 16 4723519 BRCA C G Synonymous p.P343P c.1029C>G 16 4727537 LUAD C T Missense p.A131V c.392C>T 16 4702774 UCEC C T Missense p.A303V c.908C>T 16 4723611 STAD C T Missense p.P266L c.797C>T 16 4723500 CM C T Missense p.P338S c.1012C>T 16 4727520 CM C T Missense p.P71S c.211C>T 16 4701967 CM C T Missense p.S233F c.698C>T 16 4718285 OV C T Missense p.S407L c.1220C>T 16 4731639 HNSC C T Synonymous p.C302C c.906C>T 16 4723609 STAD C T Synonymous p.G482G c.1446C>T 16 4732911 LGG C T Synonymous p.H78H c.234C>T 16 4701990 STAD C T Synonymous p.I405I c.1215C>T 16 4731634 CM C T Synonymous p.L398L c.1194C>T 16 4731613 CM C T Synonymous p.L551L c.1653C>T 16 4738831 UCEC G A Missense p.E270K c.808G>A 16 4723511 CM G A Missense p.E467K c.1399G>A 16 4732864 HNSC G A Missense p.E494K c.1480G>A 16 4732945 HNSC G A Missense p.R441H c.1322G>A 16 4731741 GBM G A Synonymous p.L349L c.1047G>A 16 4727555 RCCC G A Synonymous p.S390S c.1170G>A 16 4731589 GBM - GCCG Frameshift p.L60Afs*121 c.177_178insGCCG 16 4700454 OV G T Missense p.E252D c.756G>T 16 4721421 RCCC G T Nonsense p.E207* c.619G>T 16 4714767 HNSC G T Synonymous p.V210V c.630G>T 16 4715104 BRCA G T Synonymous p.V213V c.639G>T 16 4715113 LUAD T A IntronicSNV . c.444-352T>A 16 4706895 CLL T G Missense p.L60R c.179T>G 16 4700456 OV