Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 16 4408479 4408479 + Silent SNP G G A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr16:4408479G>A c.2346C>T c.(2344-2346)ctC>ctT p.L782L BLCA 16 4410337 4410337 + Missense_Mutation SNP C C T TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr16:4410337C>T c.2050G>A c.(2050-2052)Gga>Aga p.G684R BLCA 16 4411172 4411172 + Missense_Mutation SNP C C A TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr16:4411172C>A c.1765G>T c.(1765-1767)Gtg>Ttg p.V589L BLCA 16 4411441 4411441 + Silent SNP C C T TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 g.chr16:4411441C>T c.1608G>A c.(1606-1608)acG>acA p.T536T BLCA 16 4412079 4412079 + Silent SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr16:4412079G>A c.1485C>T c.(1483-1485)ctC>ctT p.L495L BLCA 16 4412729 4412729 + Missense_Mutation SNP G G C TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr16:4412729G>C c.1286C>G c.(1285-1287)tCt>tGt p.S429C BRCA 16 4408084 4408084 + Silent SNP G G A TCGA-B6-A0X1-01A-11D-A10G-09 TCGA-B6-A0X1-10A-01D-A117-09 g.chr16:4408084G>A c.2478C>T c.(2476-2478)gaC>gaT p.D826D BRCA 16 4412030 4412030 + Missense_Mutation SNP C C T TCGA-C8-A1HG-01A-11D-A135-09 TCGA-C8-A1HG-10A-01D-A135-09 g.chr16:4412030C>T c.1534G>A c.(1534-1536)Gcc>Acc p.A512T BRCA 16 4412087 4412088 + Frame_Shift_Ins INS - - C TCGA-BH-A0EE-01A-11W-A050-09 TCGA-BH-A0EE-10A-01W-A055-09 g.chr16:4412087_4412088insC c.1476_1477insG c.(1474-1479)gggctcfs p.L493fs BRCA 16 4412094 4412094 + Silent SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr16:4412094G>C c.1470C>G c.(1468-1470)ctC>ctG p.L490L BRCA 16 4415517 4415517 + Missense_Mutation SNP G G T TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 g.chr16:4415517G>T c.815C>A c.(814-816)tCt>tAt p.S272Y BRCA 16 4458194 4458194 + Silent SNP C C A TCGA-AR-A1AQ-01A-11D-A12Q-09 TCGA-AR-A1AQ-10A-01D-A12Q-09 g.chr16:4458194C>A c.291G>T c.(289-291)tcG>tcT p.S97S BRCA 16 4462374 4462374 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr16:4462374T>G c.215A>C c.(214-216)cAc>cCc p.H72P CESC 16 4409516 4409516 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr16:4409516C>G c.2215G>C c.(2215-2217)Gac>Cac p.D739H CESC 16 4410478 4410478 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr16:4410478G>A c.1989C>T c.(1987-1989)gtC>gtT p.V663V CESC 16 4412623 4412623 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr16:4412623C>G c.1392G>C c.(1390-1392)caG>caC p.Q464H CESC 16 4415047 4415047 + Silent SNP C C G TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 g.chr16:4415047C>G c.855G>C c.(853-855)ctG>ctC p.L285L COAD 16 4408375 4408375 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr16:4408375C>T c.2450G>A c.(2449-2451)cGa>cAa p.R817Q COAD 16 4412057 4412057 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr16:4412057C>T c.1507G>A c.(1507-1509)Ggc>Agc p.G503S COAD 16 4412704 4412704 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr16:4412704C>T c.1311G>A c.(1309-1311)tcG>tcA p.S437S COAD 16 4414673 4414673 + Missense_Mutation SNP C C A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr16:4414673C>A c.1062G>T c.(1060-1062)gaG>gaT p.E354D COAD 16 4414805 4414805 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr16:4414805C>T c.1015G>A c.(1015-1017)Gtg>Atg p.V339M COAD 16 4438579 4438579 + Silent SNP G G T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr16:4438579G>T c.669C>A c.(667-669)acC>acA p.T223T COAD 16 4455501 4455501 + Silent SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr16:4455501C>T c.555G>A c.(553-555)acG>acA p.T185T COAD 16 4457527 4457527 + Silent SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr16:4457527G>A c.462C>T c.(460-462)gaC>gaT p.D154D COAD 16 4457556 4457556 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr16:4457556C>T c.433G>A c.(433-435)Gca>Aca p.A145T COADREAD 16 4408375 4408375 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr16:4408375C>T c.2450G>A c.(2449-2451)cGa>cAa p.R817Q COADREAD 16 4411003 4411003 + Missense_Mutation SNP G G T TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr16:4411003G>T c.1858C>A c.(1858-1860)Cgc>Agc p.R620S COADREAD 16 4412057 4412057 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr16:4412057C>T c.1507G>A c.(1507-1509)Ggc>Agc p.G503S COADREAD 16 4412704 4412704 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr16:4412704C>T c.1311G>A c.(1309-1311)tcG>tcA p.S437S COADREAD 16 4414673 4414673 + Missense_Mutation SNP C C A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr16:4414673C>A c.1062G>T c.(1060-1062)gaG>gaT p.E354D COADREAD 16 4414805 4414805 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr16:4414805C>T c.1015G>A c.(1015-1017)Gtg>Atg p.V339M COADREAD 16 4438579 4438579 + Silent SNP G G T TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr16:4438579G>T c.669C>A c.(667-669)acC>acA p.T223T COADREAD 16 4455501 4455501 + Silent SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr16:4455501C>T c.555G>A c.(553-555)acG>acA p.T185T COADREAD 16 4455502 4455502 + Missense_Mutation SNP G G A TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr16:4455502G>A c.554C>T c.(553-555)aCg>aTg p.T185M COADREAD 16 4457527 4457527 + Silent SNP G G A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr16:4457527G>A c.462C>T c.(460-462)gaC>gaT p.D154D COADREAD 16 4457556 4457556 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr16:4457556C>T c.433G>A c.(433-435)Gca>Aca p.A145T ESCA 16 4407996 4407996 + Missense_Mutation SNP T T C TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 g.chr16:4407996T>C c.2566A>G c.(2566-2568)Agc>Ggc p.S856G ESCA 16 4408369 4408369 + Splice_Site SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr16:4408369C>T c.2456G>A c.(2455-2457)cGg>cAg p.R819Q ESCA 16 4409313 4409313 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr16:4409313G>T c.2324C>A c.(2323-2325)tCg>tAg p.S775* ESCA 16 4412009 4412009 + Missense_Mutation SNP C C T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr16:4412009C>T c.1555G>A c.(1555-1557)Ggg>Agg p.G519R ESCA 16 4412735 4412735 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 g.chr16:4412735C>T c.1280G>A c.(1279-1281)gGt>gAt p.G427D ESCA 16 4414633 4414633 + Missense_Mutation SNP C C T TCGA-L5-A43M-01A-11D-A247-09 TCGA-L5-A43M-11A-11D-A247-09 g.chr16:4414633C>T c.1102G>A c.(1102-1104)Gac>Aac p.D368N ESCA 16 4455542 4455542 + Nonsense_Mutation SNP G G A TCGA-L5-A891-01A-11D-A36J-09 TCGA-L5-A891-11A-21D-A36M-09 g.chr16:4455542G>A c.514C>T c.(514-516)Cag>Tag p.Q172* GBM 16 4409376 4409376 + Missense_Mutation SNP C C T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 g.chr16:4409376C>T c.2261G>A c.(2260-2262)cGt>cAt p.R754H GBM 16 4411454 4411454 + Missense_Mutation SNP C C T TCGA-74-6575-01A-11D-1845-08 TCGA-74-6575-10A-01D-1845-08 g.chr16:4411454C>T c.1595G>A c.(1594-1596)cGc>cAc p.R532H GBM 16 4414382 4414382 + Silent SNP C C T TCGA-28-5220-01A-01D-1486-08 TCGA-28-5220-10A-01D-1486-08 g.chr16:4414382C>T c.1170G>A c.(1168-1170)cgG>cgA p.R390R GBMLGG 16 4409376 4409376 + Missense_Mutation SNP C C T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 g.chr16:4409376C>T c.2261G>A c.(2260-2262)cGt>cAt p.R754H GBMLGG 16 4409612 4409612 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:4409612G>A c.2119C>T c.(2119-2121)Cgc>Tgc p.R707C GBMLGG 16 4411454 4411454 + Missense_Mutation SNP C C T TCGA-74-6575-01A-11D-1845-08 TCGA-74-6575-10A-01D-1845-08 g.chr16:4411454C>T c.1595G>A c.(1594-1596)cGc>cAc p.R532H GBMLGG 16 4412704 4412704 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:4412704C>T c.1311G>A c.(1309-1311)tcG>tcA p.S437S GBMLGG 16 4414382 4414382 + Silent SNP C C T TCGA-28-5220-01A-01D-1486-08 TCGA-28-5220-10A-01D-1486-08 g.chr16:4414382C>T c.1170G>A c.(1168-1170)cgG>cgA p.R390R HNSC 16 4408429 4408429 + Missense_Mutation SNP C C T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 g.chr16:4408429C>T c.2396G>A c.(2395-2397)cGg>cAg p.R799Q KICH 16 4445319 4445319 + Missense_Mutation SNP C C T TCGA-KL-8345-01A-11D-2310-10 TCGA-KL-8345-11A-01D-2310-10 g.chr16:4445319C>T c.586G>A c.(586-588)Gac>Aac p.D196N KIPAN 16 4405287 4405287 + Splice_Site SNP C C A TCGA-B0-5100-01A-01D-1421-08 TCGA-B0-5100-11A-01D-1421-08 g.chr16:4405287C>A c.2772G>T c.(2770-2772)tgG>tgT p.W924C KIPAN 16 4408461 4408461 + Silent SNP C C T TCGA-B0-5713-01A-11D-1669-08 TCGA-B0-5713-11A-01D-1669-08 g.chr16:4408461C>T c.2364G>A c.(2362-2364)acG>acA p.T788T KIPAN 16 4445319 4445319 + Missense_Mutation SNP C C T TCGA-KL-8345-01A-11D-2310-10 TCGA-KL-8345-11A-01D-2310-10 g.chr16:4445319C>T c.586G>A c.(586-588)Gac>Aac p.D196N KIRC 16 4405287 4405287 + Splice_Site SNP C C A TCGA-B0-5100-01A-01D-1421-08 TCGA-B0-5100-11A-01D-1421-08 g.chr16:4405287C>A c.2772G>T c.(2770-2772)tgG>tgT p.W924C KIRC 16 4408461 4408461 + Silent SNP C C T TCGA-B0-5713-01A-11D-1669-08 TCGA-B0-5713-11A-01D-1669-08 g.chr16:4408461C>T c.2364G>A c.(2362-2364)acG>acA p.T788T LGG 16 4409612 4409612 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:4409612G>A c.2119C>T c.(2119-2121)Cgc>Tgc p.R707C LGG 16 4412704 4412704 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:4412704C>T c.1311G>A c.(1309-1311)tcG>tcA p.S437S LIHC 16 4405166 4405166 + Splice_Site SNP T T A TCGA-DD-AACI-01A-11D-A40R-10 TCGA-DD-AACI-10A-01D-A40U-10 g.chr16:4405166T>A c.e28-2 LIHC 16 4410485 4410485 + Missense_Mutation SNP A A G TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr16:4410485A>G c.1982T>C c.(1981-1983)gTg>gCg p.V661A LIHC 16 4414675 4414675 + Nonsense_Mutation SNP C C A TCGA-BD-A3ER-01A-11D-A20W-10 TCGA-BD-A3ER-11A-11D-A20W-10 g.chr16:4414675C>A c.1060G>T c.(1060-1062)Gag>Tag p.E354* LUAD 16 4408035 4408035 + Missense_Mutation SNP C C A TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 g.chr16:4408035C>A c.2527G>T c.(2527-2529)Gcc>Tcc p.A843S LUAD 16 4408412 4408412 + Nonsense_Mutation SNP G G A TCGA-55-A492-01A-11D-A24D-08 TCGA-55-A492-10A-01D-A24F-08 g.chr16:4408412G>A c.2413C>T c.(2413-2415)Cag>Tag p.Q805* LUAD 16 4408437 4408437 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 g.chr16:4408437C>A c.2388G>T c.(2386-2388)gaG>gaT p.E796D LUAD 16 4410327 4410327 + Missense_Mutation SNP A A G TCGA-MP-A4TF-01A-11D-A25L-08 TCGA-MP-A4TF-10A-01D-A25L-08 g.chr16:4410327A>G c.2060T>C c.(2059-2061)aTt>aCt p.I687T LUAD 16 4410488 4410488 + Missense_Mutation SNP C C A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr16:4410488C>A c.1979G>T c.(1978-1980)cGt>cTt p.R660L LUAD 16 4411088 4411088 + Splice_Site SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr16:4411088T>A c.e19-2 LUAD 16 4411441 4411441 + Silent SNP C C A TCGA-62-A470-01A-11D-A24D-08 TCGA-62-A470-10A-01D-A24F-08 g.chr16:4411441C>A c.1608G>T c.(1606-1608)acG>acT p.T536T LUAD 16 4415016 4415016 + Missense_Mutation SNP C C G TCGA-97-8175-01A-11D-2284-08 TCGA-97-8175-10A-01D-2284-08 g.chr16:4415016C>G c.886G>C c.(886-888)Gcg>Ccg p.A296P LUAD 16 4455510 4455510 + Silent SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr16:4455510C>A c.546G>T c.(544-546)ctG>ctT p.L182L LUSC 16 4407255 4407255 + Nonsense_Mutation SNP G G A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 g.chr16:4407255G>A c.2599C>T c.(2599-2601)Caa>Taa p.Q867* LUSC 16 4410973 4410973 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr16:4410973G>A c.1888C>T c.(1888-1890)Cgg>Tgg p.R630W LUSC 16 4411466 4411466 + Missense_Mutation SNP C C T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr16:4411466C>T c.1583G>A c.(1582-1584)cGg>cAg p.R528Q LUSC 16 4414342 4414342 + Frame_Shift_Del DEL C C - TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr16:4414342delC c.1210delG c.(1210-1212)gagfs p.E404fs LUSC 16 4414874 4414874 + Missense_Mutation SNP G G C TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chr16:4414874G>C c.946C>G c.(946-948)Ccc>Gcc p.P316A LUSC 16 4415002 4415002 + Splice_Site SNP A A T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr16:4415002A>T c.e11+1 LUSC 16 4415025 4415025 + Nonsense_Mutation SNP G G A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr16:4415025G>A c.877C>T c.(877-879)Cag>Tag p.Q293* OV 16 4414870 4414870 + Missense_Mutation SNP C C G TCGA-13-2065-01A-01D-1526-09 TCGA-13-2065-10A-01D-1526-09 g.chr16:4414870C>G c.950G>C c.(949-951)cGg>cCg p.R317P OV 16 4463379 4463379 + Silent SNP T T A TCGA-61-1741-01A-02W-0639-09 TCGA-61-1741-11A-01W-0639-09 g.chr16:4463379T>A c.87A>T c.(85-87)ggA>ggT p.G29G PAAD 16 4409543 4409543 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:4409543C>T c.2188G>A c.(2188-2190)Gct>Act p.A730T PCPG 16 4408410 4408410 + Silent SNP C C T TCGA-SR-A6MX-01A-11D-A35I-08 TCGA-SR-A6MX-10A-01D-A35G-08 g.chr16:4408410C>T c.2415G>A c.(2413-2415)caG>caA p.Q805Q PCPG 16 4412682 4412682 + Missense_Mutation SNP C C A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 g.chr16:4412682C>A c.1333G>T c.(1333-1335)Ggg>Tgg p.G445W PRAD 16 4407211 4407211 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:4407211C>T c.2643G>A c.(2641-2643)gcG>gcA p.A881A PRAD 16 4408455 4408455 + Silent SNP G G A TCGA-V1-A9Z8-01A-11D-A41K-08 TCGA-V1-A9Z8-10A-01D-A41N-08 g.chr16:4408455G>A c.2370C>T c.(2368-2370)tgC>tgT p.C790C PRAD 16 4410482 4410482 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:4410482C>T c.1985G>A c.(1984-1986)cGg>cAg p.R662Q PRAD 16 4411454 4411454 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:4411454C>T c.1595G>A c.(1594-1596)cGc>cAc p.R532H PRAD 16 4414863 4414863 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:4414863C>T c.957G>A c.(955-957)gcG>gcA p.A319A READ 16 4411003 4411003 + Missense_Mutation SNP G G T TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr16:4411003G>T c.1858C>A c.(1858-1860)Cgc>Agc p.R620S READ 16 4455502 4455502 + Missense_Mutation SNP G G A TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr16:4455502G>A c.554C>T c.(553-555)aCg>aTg p.T185M SARC 16 4411429 4411429 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 g.chr16:4411429C>T c.1620G>A c.(1618-1620)acG>acA p.T540T SARC 16 4411430 4411430 + Missense_Mutation SNP G G A TCGA-3B-A9HR-01A-11D-A387-09 TCGA-3B-A9HR-10A-01D-A38A-09 g.chr16:4411430G>A c.1619C>T c.(1618-1620)aCg>aTg p.T540M SARC 16 4458230 4458230 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr16:4458230G>A c.255C>T c.(253-255)ttC>ttT p.F85F SKCM 16 4407228 4407228 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr16:4407228G>A c.2626C>T c.(2626-2628)Cgg>Tgg p.R876W SKCM 16 4409336 4409336 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr16:4409336G>A c.2301C>T c.(2299-2301)ttC>ttT p.F767F SKCM 16 4409354 4409354 + Silent SNP G G A TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr16:4409354G>A c.2283C>T c.(2281-2283)ctC>ctT p.L761L SKCM 16 4411248 4411248 + Splice_Site SNP A A G TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr16:4411248A>G c.1689T>C c.(1687-1689)gcT>gcC p.A563A SKCM 16 4411249 4411249 + Splice_Site SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr16:4411249G>A c.1688C>T c.(1687-1689)gCt>gTt p.A563V SKCM 16 4411374 4411374 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr16:4411374G>A c.1675C>T c.(1675-1677)Cgc>Tgc p.R559C SKCM 16 4411379 4411379 + Missense_Mutation SNP G G A TCGA-RP-A694-06A-11D-A30X-08 TCGA-RP-A694-10A-01D-A30X-08 g.chr16:4411379G>A c.1670C>T c.(1669-1671)cCc>cTc p.P557L SKCM 16 4412714 4412714 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr16:4412714G>A c.1301C>T c.(1300-1302)tCg>tTg p.S434L SKCM 16 4412725 4412725 + Silent SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 g.chr16:4412725G>A c.1290C>T c.(1288-1290)tcC>tcT p.S430S SKCM 16 4463325 4463325 + Silent SNP G G A TCGA-ER-A19D-06A-11D-A197-08 TCGA-ER-A19D-10A-01D-A199-08 g.chr16:4463325G>A c.141C>T c.(139-141)ttC>ttT p.F47F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 16 4407981 4407981 single base substitution C T 3_prime_UTR_variant BLCA-CN 16 4407981 4407981 single base substitution C T downstream_gene_variant BLCA-CN 16 4407981 4407981 single base substitution C T exon_variant BLCA-CN 16 4407981 4407981 single base substitution C T intron_variant BLCA-CN 16 4407981 4407981 single base substitution C T missense_variant D641N 1921G>A BLCA-CN 16 4407981 4407981 single base substitution C T missense_variant D70N 208G>A BLCA-CN 16 4407981 4407981 single base substitution C T missense_variant D776N 2326G>A BLCA-CN 16 4407981 4407981 single base substitution C T missense_variant D843N 2527G>A BLCA-CN 16 4407981 4407981 single base substitution C T missense_variant D861N 2581G>A BLCA-CN 16 4411167 4411167 single base substitution G A 3_prime_UTR_variant BLCA-CN 16 4411167 4411167 single base substitution G A downstream_gene_variant BLCA-CN 16 4411167 4411167 single base substitution G A exon_variant BLCA-CN 16 4411167 4411167 single base substitution G A synonymous_variant L370L 1110C>T BLCA-CN 16 4411167 4411167 single base substitution G A synonymous_variant L505L 1515C>T BLCA-CN 16 4411167 4411167 single base substitution G A synonymous_variant L572L 1716C>T BLCA-CN 16 4411167 4411167 single base substitution G A synonymous_variant L590L 1770C>T BLCA-CN 16 4411167 4411167 single base substitution G A upstream_gene_variant BLCA-CN 16 4411206 4411206 single base substitution C G 3_prime_UTR_variant BLCA-CN 16 4411206 4411206 single base substitution C G downstream_gene_variant BLCA-CN 16 4411206 4411206 single base substitution C G exon_variant BLCA-CN 16 4411206 4411206 single base substitution C G missense_variant E357D 1071G>C BLCA-CN 16 4411206 4411206 single base substitution C G missense_variant E492D 1476G>C BLCA-CN 16 4411206 4411206 single base substitution C G missense_variant E559D 1677G>C BLCA-CN 16 4411206 4411206 single base substitution C G missense_variant E577D 1731G>C BLCA-CN 16 4411206 4411206 single base substitution C G upstream_gene_variant BLCA-US 16 4411441 4411441 single base substitution C T 3_prime_UTR_variant BLCA-US 16 4411441 4411441 single base substitution C T downstream_gene_variant BLCA-US 16 4411441 4411441 single base substitution C T exon_variant BLCA-US 16 4411441 4411441 single base substitution C T synonymous_variant T316T 948G>A BLCA-US 16 4411441 4411441 single base substitution C T synonymous_variant T451T 1353G>A BLCA-US 16 4411441 4411441 single base substitution C T synonymous_variant T518T 1554G>A BLCA-US 16 4411441 4411441 single base substitution C T synonymous_variant T536T 1608G>A BLCA-US 16 4411441 4411441 single base substitution C T upstream_gene_variant BLCA-US 16 4412079 4412079 single base substitution G A 3_prime_UTR_variant BLCA-US 16 4412079 4412079 single base substitution G A downstream_gene_variant BLCA-US 16 4412079 4412079 single base substitution G A exon_variant BLCA-US 16 4412079 4412079 single base substitution G A synonymous_variant L275L 825C>T BLCA-US 16 4412079 4412079 single base substitution G A synonymous_variant L327L 981C>T BLCA-US 16 4412079 4412079 single base substitution G A synonymous_variant L410L 1230C>T BLCA-US 16 4412079 4412079 single base substitution G A synonymous_variant L477L 1431C>T BLCA-US 16 4412079 4412079 single base substitution G A synonymous_variant L495L 1485C>T BLCA-US 16 4412079 4412079 single base substitution G A upstream_gene_variant BLCA-US 16 4431070 4431070 single base substitution C T intron_variant BLCA-US 16 4466517 4466517 single base substitution C T 5_prime_UTR_variant BLCA-US 16 4466517 4466517 single base substitution C T downstream_gene_variant BLCA-US 16 4466517 4466517 single base substitution C T exon_variant BLCA-US 16 4466517 4466517 single base substitution C T intron_variant BLCA-US 16 4466517 4466517 single base substitution C T start_lost M1I 3G>A BLCA-US 16 4466517 4466517 single base substitution C T upstream_gene_variant BOCA-FR 16 4406754 4406754 single base substitution A G downstream_gene_variant BOCA-FR 16 4406754 4406754 single base substitution A G exon_variant BOCA-FR 16 4406754 4406754 single base substitution A G intron_variant BRCA-EU 16 4399692 4399692 single base substitution T G downstream_gene_variant BRCA-EU 16 4400524 4400524 single base substitution C G downstream_gene_variant BRCA-EU 16 4400588 4400588 single base substitution G C downstream_gene_variant BRCA-EU 16 4400765 4400765 single base substitution C T downstream_gene_variant BRCA-EU 16 4404290 4404290 single base substitution G A downstream_gene_variant BRCA-EU 16 4404875 4404875 single base substitution G T 3_prime_UTR_variant BRCA-EU 16 4404875 4404875 single base substitution G T downstream_gene_variant BRCA-EU 16 4408197 4408197 single base substitution C A downstream_gene_variant BRCA-EU 16 4408197 4408197 single base substitution C A exon_variant BRCA-EU 16 4408197 4408197 single base substitution C A intron_variant BRCA-EU 16 4408199 4408199 single base substitution C G downstream_gene_variant BRCA-EU 16 4408199 4408199 single base substitution C G exon_variant BRCA-EU 16 4408199 4408199 single base substitution C G intron_variant BRCA-EU 16 4409063 4409063 single base substitution T A downstream_gene_variant BRCA-EU 16 4409063 4409063 single base substitution T A exon_variant BRCA-EU 16 4409063 4409063 single base substitution T A intron_variant BRCA-EU 16 4409063 4409063 single base substitution T A upstream_gene_variant BRCA-EU 16 4410989 4410989 single base substitution A T 3_prime_UTR_variant BRCA-EU 16 4410989 4410989 single base substitution A T downstream_gene_variant BRCA-EU 16 4410989 4410989 single base substitution A T exon_variant BRCA-EU 16 4410989 4410989 single base substitution A T synonymous_variant L404L 1212T>A BRCA-EU 16 4410989 4410989 single base substitution A T synonymous_variant L539L 1617T>A BRCA-EU 16 4410989 4410989 single base substitution A T synonymous_variant L606L 1818T>A BRCA-EU 16 4410989 4410989 single base substitution A T synonymous_variant L624L 1872T>A BRCA-EU 16 4410989 4410989 single base substitution A T upstream_gene_variant BRCA-EU 16 4411127 4411127 single base substitution C A downstream_gene_variant BRCA-EU 16 4411127 4411127 single base substitution C A intron_variant BRCA-EU 16 4411127 4411127 single base substitution C A upstream_gene_variant BRCA-EU 16 4413268 4413268 deletion of <=200bp A - downstream_gene_variant BRCA-EU 16 4413268 4413268 deletion of <=200bp A - intron_variant BRCA-EU 16 4413268 4413268 deletion of <=200bp A - upstream_gene_variant BRCA-EU 16 4413913 4413913 single base substitution G A downstream_gene_variant BRCA-EU 16 4413913 4413913 single base substitution G A intron_variant BRCA-EU 16 4413913 4413913 single base substitution G A upstream_gene_variant BRCA-EU 16 4414007 4414007 single base substitution C T downstream_gene_variant BRCA-EU 16 4414007 4414007 single base substitution C T intron_variant BRCA-EU 16 4414007 4414007 single base substitution C T upstream_gene_variant BRCA-EU 16 4414634 4414634 single base substitution G A 3_prime_UTR_variant BRCA-EU 16 4414634 4414634 single base substitution G A downstream_gene_variant BRCA-EU 16 4414634 4414634 single base substitution G A exon_variant BRCA-EU 16 4414634 4414634 single base substitution G A intron_variant BRCA-EU 16 4414634 4414634 single base substitution G A synonymous_variant T147T 441C>T BRCA-EU 16 4414634 4414634 single base substitution G A synonymous_variant T199T 597C>T BRCA-EU 16 4414634 4414634 single base substitution G A synonymous_variant T282T 846C>T BRCA-EU 16 4414634 4414634 single base substitution G A synonymous_variant T349T 1047C>T BRCA-EU 16 4414634 4414634 single base substitution G A synonymous_variant T367T 1101C>T BRCA-EU 16 4414634 4414634 single base substitution G A upstream_gene_variant BRCA-EU 16 4414759 4414759 single base substitution G A downstream_gene_variant BRCA-EU 16 4414759 4414759 single base substitution G A intron_variant BRCA-EU 16 4414759 4414759 single base substitution G A upstream_gene_variant BRCA-EU 16 4414925 4414925 single base substitution T A intron_variant BRCA-EU 16 4414925 4414925 single base substitution T A splice_region_variant BRCA-EU 16 4414925 4414925 single base substitution T A upstream_gene_variant BRCA-EU 16 4415226 4415226 single base substitution G A intron_variant BRCA-EU 16 4415226 4415226 single base substitution G A upstream_gene_variant BRCA-EU 16 4417992 4417992 single base substitution T C intron_variant BRCA-EU 16 4417992 4417992 single base substitution T C upstream_gene_variant BRCA-EU 16 4419072 4419072 single base substitution G C intron_variant BRCA-EU 16 4419072 4419072 single base substitution G C upstream_gene_variant BRCA-EU 16 4419242 4419242 single base substitution G C intron_variant BRCA-EU 16 4419242 4419242 single base substitution G C upstream_gene_variant BRCA-EU 16 4423427 4423427 single base substitution G A intron_variant BRCA-EU 16 4423637 4423637 single base substitution C T intron_variant BRCA-EU 16 4425583 4425583 single base substitution G A intron_variant BRCA-EU 16 4425722 4425722 single base substitution C T intron_variant BRCA-EU 16 4430239 4430239 single base substitution G A intron_variant BRCA-EU 16 4432023 4432023 single base substitution C A intron_variant BRCA-EU 16 4432267 4432267 single base substitution C T intron_variant BRCA-EU 16 4432425 4432425 single base substitution C G intron_variant BRCA-EU 16 4432513 4432513 single base substitution G C intron_variant BRCA-EU 16 4434403 4434403 single base substitution C G downstream_gene_variant BRCA-EU 16 4434403 4434403 single base substitution C G intron_variant BRCA-EU 16 4435702 4435702 single base substitution C G downstream_gene_variant BRCA-EU 16 4435702 4435702 single base substitution C G intron_variant BRCA-EU 16 4437653 4437664 deletion of <=200bp GAAAAATGAAGC - downstream_gene_variant BRCA-EU 16 4437653 4437664 deletion of <=200bp GAAAAATGAAGC - intron_variant BRCA-EU 16 4437697 4437697 single base substitution C G downstream_gene_variant BRCA-EU 16 4437697 4437697 single base substitution C G intron_variant BRCA-EU 16 4438483 4438483 single base substitution G A downstream_gene_variant BRCA-EU 16 4438483 4438483 single base substitution G A intron_variant BRCA-EU 16 4439528 4439528 deletion of <=200bp C - intron_variant BRCA-EU 16 4439881 4439881 single base substitution C A intron_variant BRCA-EU 16 4440058 4440058 deletion of <=200bp G - intron_variant BRCA-EU 16 4440843 4440843 single base substitution C T downstream_gene_variant BRCA-EU 16 4440843 4440843 single base substitution C T intron_variant BRCA-EU 16 4441785 4441785 single base substitution C T downstream_gene_variant BRCA-EU 16 4441785 4441785 single base substitution C T intron_variant BRCA-EU 16 4441839 4441839 single base substitution C A downstream_gene_variant BRCA-EU 16 4441839 4441839 single base substitution C A intron_variant BRCA-EU 16 4442708 4442708 single base substitution C G downstream_gene_variant BRCA-EU 16 4442708 4442708 single base substitution C G intron_variant BRCA-EU 16 4444076 4444079 deletion of <=200bp TGGG - downstream_gene_variant BRCA-EU 16 4444076 4444079 deletion of <=200bp TGGG - intron_variant BRCA-EU 16 4444174 4444174 single base substitution C T downstream_gene_variant BRCA-EU 16 4444174 4444174 single base substitution C T intron_variant BRCA-EU 16 4444979 4444979 single base substitution G A downstream_gene_variant BRCA-EU 16 4444979 4444979 single base substitution G A intron_variant BRCA-EU 16 4446265 4446265 single base substitution G C intron_variant BRCA-EU 16 4446265 4446265 single base substitution G C upstream_gene_variant BRCA-EU 16 4446517 4446517 single base substitution C T intron_variant BRCA-EU 16 4446517 4446517 single base substitution C T upstream_gene_variant BRCA-EU 16 4447592 4447592 single base substitution C G intron_variant BRCA-EU 16 4447592 4447592 single base substitution C G upstream_gene_variant BRCA-EU 16 4450075 4450075 single base substitution T A intron_variant BRCA-EU 16 4450075 4450075 single base substitution T A upstream_gene_variant BRCA-EU 16 4451314 4451314 single base substitution G A downstream_gene_variant BRCA-EU 16 4451314 4451314 single base substitution G A intron_variant BRCA-EU 16 4452421 4452421 deletion of <=200bp T - downstream_gene_variant BRCA-EU 16 4452421 4452421 deletion of <=200bp T - intron_variant BRCA-EU 16 4452474 4452474 single base substitution C G downstream_gene_variant BRCA-EU 16 4452474 4452474 single base substitution C G intron_variant BRCA-EU 16 4452840 4452840 single base substitution G T downstream_gene_variant BRCA-EU 16 4452840 4452840 single base substitution G T intron_variant BRCA-EU 16 4454978 4454978 single base substitution C A downstream_gene_variant BRCA-EU 16 4454978 4454978 single base substitution C A intron_variant BRCA-EU 16 4455458 4455458 single base substitution G C downstream_gene_variant BRCA-EU 16 4455458 4455458 single base substitution G C intron_variant BRCA-EU 16 4455865 4455865 single base substitution C G downstream_gene_variant BRCA-EU 16 4455865 4455865 single base substitution C G intron_variant BRCA-EU 16 4456218 4456218 single base substitution C T downstream_gene_variant BRCA-EU 16 4456218 4456218 single base substitution C T intron_variant BRCA-EU 16 4460699 4460699 single base substitution T C intron_variant BRCA-EU 16 4460699 4460699 single base substitution T C upstream_gene_variant BRCA-EU 16 4460700 4460700 single base substitution G C intron_variant BRCA-EU 16 4460700 4460700 single base substitution G C upstream_gene_variant BRCA-EU 16 4460749 4460749 single base substitution G C intron_variant BRCA-EU 16 4460749 4460749 single base substitution G C upstream_gene_variant BRCA-EU 16 4461559 4461559 single base substitution T A downstream_gene_variant BRCA-EU 16 4461559 4461559 single base substitution T A intron_variant BRCA-EU 16 4461559 4461559 single base substitution T A upstream_gene_variant BRCA-EU 16 4461560 4461560 single base substitution A T downstream_gene_variant BRCA-EU 16 4461560 4461560 single base substitution A T intron_variant BRCA-EU 16 4461560 4461560 single base substitution A T upstream_gene_variant BRCA-EU 16 4461761 4461761 single base substitution G A downstream_gene_variant BRCA-EU 16 4461761 4461761 single base substitution G A intron_variant BRCA-EU 16 4461761 4461761 single base substitution G A upstream_gene_variant BRCA-EU 16 4462546 4462546 single base substitution C A downstream_gene_variant BRCA-EU 16 4462546 4462546 single base substitution C A exon_variant BRCA-EU 16 4462546 4462546 single base substitution C A intron_variant BRCA-EU 16 4462546 4462546 single base substitution C A upstream_gene_variant BRCA-EU 16 4462570 4462570 single base substitution C T downstream_gene_variant BRCA-EU 16 4462570 4462570 single base substitution C T exon_variant BRCA-EU 16 4462570 4462570 single base substitution C T intron_variant BRCA-EU 16 4462570 4462570 single base substitution C T upstream_gene_variant BRCA-EU 16 4463024 4463024 single base substitution G A downstream_gene_variant BRCA-EU 16 4463024 4463024 single base substitution G A intron_variant BRCA-EU 16 4463024 4463024 single base substitution G A upstream_gene_variant BRCA-EU 16 4463542 4463542 insertion of <=200bp - T downstream_gene_variant BRCA-EU 16 4463542 4463542 insertion of <=200bp - T intron_variant BRCA-EU 16 4463542 4463542 insertion of <=200bp - T upstream_gene_variant BRCA-EU 16 4464004 4464004 single base substitution A G downstream_gene_variant BRCA-EU 16 4464004 4464004 single base substitution A G intron_variant BRCA-EU 16 4464004 4464004 single base substitution A G upstream_gene_variant BRCA-EU 16 4465488 4465488 single base substitution G A downstream_gene_variant BRCA-EU 16 4465488 4465488 single base substitution G A intron_variant BRCA-EU 16 4465488 4465488 single base substitution G A upstream_gene_variant BRCA-EU 16 4467305 4467316 deletion of <=200bp AATAATAATAAT - intron_variant BRCA-EU 16 4467305 4467316 deletion of <=200bp AATAATAATAAT - upstream_gene_variant BRCA-EU 16 4468298 4468298 single base substitution G A intron_variant BRCA-EU 16 4468298 4468298 single base substitution G A upstream_gene_variant BRCA-EU 16 4468605 4468605 single base substitution G A intron_variant BRCA-EU 16 4468605 4468605 single base substitution G A upstream_gene_variant BRCA-EU 16 4469966 4469966 single base substitution C T intron_variant BRCA-EU 16 4469966 4469966 single base substitution C T upstream_gene_variant BRCA-EU 16 4471265 4471265 single base substitution C T intron_variant BRCA-EU 16 4471265 4471265 single base substitution C T upstream_gene_variant BRCA-EU 16 4472097 4472097 single base substitution T A intron_variant BRCA-EU 16 4474118 4474118 single base substitution C T intron_variant BRCA-EU 16 4474171 4474171 single base substitution G C intron_variant BRCA-EU 16 4475109 4475109 single base substitution G C intron_variant BRCA-EU 16 4476196 4476196 single base substitution C T upstream_gene_variant BRCA-EU 16 4476563 4476563 single base substitution G C upstream_gene_variant BRCA-EU 16 4476585 4476585 single base substitution C T upstream_gene_variant BRCA-EU 16 4476655 4476655 single base substitution C G upstream_gene_variant BRCA-EU 16 4478131 4478131 single base substitution T G upstream_gene_variant BRCA-EU 16 4478450 4478450 single base substitution G C upstream_gene_variant BRCA-EU 16 4478537 4478537 single base substitution A T upstream_gene_variant BRCA-EU 16 4478564 4478564 single base substitution A G upstream_gene_variant BRCA-EU 16 4479053 4479053 single base substitution C G upstream_gene_variant BRCA-EU 16 4479737 4479737 single base substitution G T upstream_gene_variant BRCA-EU 16 4480295 4480295 single base substitution A G upstream_gene_variant BRCA-EU 16 4480672 4480672 single base substitution C G upstream_gene_variant BRCA-FR 16 4404290 4404290 single base substitution G A downstream_gene_variant BRCA-FR 16 4415226 4415226 single base substitution G A intron_variant BRCA-FR 16 4415226 4415226 single base substitution G A upstream_gene_variant BRCA-FR 16 4435676 4435676 single base substitution G A downstream_gene_variant BRCA-FR 16 4435676 4435676 single base substitution G A intron_variant BRCA-FR 16 4438928 4438928 single base substitution C A intron_variant BRCA-FR 16 4461583 4461583 single base substitution C T downstream_gene_variant BRCA-FR 16 4461583 4461583 single base substitution C T intron_variant BRCA-FR 16 4461583 4461583 single base substitution C T upstream_gene_variant BRCA-FR 16 4463024 4463024 single base substitution G A downstream_gene_variant BRCA-FR 16 4463024 4463024 single base substitution G A intron_variant BRCA-FR 16 4463024 4463024 single base substitution G A upstream_gene_variant BRCA-FR 16 4463557 4463557 single base substitution G C downstream_gene_variant BRCA-FR 16 4463557 4463557 single base substitution G C intron_variant BRCA-FR 16 4463557 4463557 single base substitution G C upstream_gene_variant BRCA-FR 16 4475109 4475109 single base substitution G C intron_variant BRCA-FR 16 4478450 4478450 single base substitution G C upstream_gene_variant BRCA-FR 16 4479737 4479737 single base substitution G T upstream_gene_variant BRCA-UK 16 4405797 4405797 single base substitution G A downstream_gene_variant BRCA-UK 16 4405797 4405797 single base substitution G A intron_variant BRCA-UK 16 4450075 4450075 single base substitution T A intron_variant BRCA-UK 16 4450075 4450075 single base substitution T A upstream_gene_variant BRCA-UK 16 4476435 4476435 single base substitution C T upstream_gene_variant BRCA-US 16 4408084 4408084 single base substitution G A 3_prime_UTR_variant BRCA-US 16 4408084 4408084 single base substitution G A downstream_gene_variant BRCA-US 16 4408084 4408084 single base substitution G A exon_variant BRCA-US 16 4408084 4408084 single base substitution G A intron_variant BRCA-US 16 4408084 4408084 single base substitution G A synonymous_variant D35D 105C>T BRCA-US 16 4408084 4408084 single base substitution G A synonymous_variant D606D 1818C>T BRCA-US 16 4408084 4408084 single base substitution G A synonymous_variant D741D 2223C>T BRCA-US 16 4408084 4408084 single base substitution G A synonymous_variant D808D 2424C>T BRCA-US 16 4408084 4408084 single base substitution G A synonymous_variant D826D 2478C>T BRCA-US 16 4412030 4412030 single base substitution C T 3_prime_UTR_variant BRCA-US 16 4412030 4412030 single base substitution C T downstream_gene_variant BRCA-US 16 4412030 4412030 single base substitution C T exon_variant BRCA-US 16 4412030 4412030 single base substitution C T missense_variant A292T 874G>A BRCA-US 16 4412030 4412030 single base substitution C T missense_variant A344T 1030G>A BRCA-US 16 4412030 4412030 single base substitution C T missense_variant A427T 1279G>A BRCA-US 16 4412030 4412030 single base substitution C T missense_variant A494T 1480G>A BRCA-US 16 4412030 4412030 single base substitution C T missense_variant A512T 1534G>A BRCA-US 16 4412030 4412030 single base substitution C T upstream_gene_variant BRCA-US 16 4412087 4412087 insertion of <=200bp - C 3_prime_UTR_variant BRCA-US 16 4412087 4412087 insertion of <=200bp - C downstream_gene_variant BRCA-US 16 4412087 4412087 insertion of <=200bp - C exon_variant BRCA-US 16 4412087 4412087 insertion of <=200bp - C frameshift_variant L273R? BRCA-US 16 4412087 4412087 insertion of <=200bp - C frameshift_variant L325R? BRCA-US 16 4412087 4412087 insertion of <=200bp - C frameshift_variant L408R? BRCA-US 16 4412087 4412087 insertion of <=200bp - C frameshift_variant L475R? BRCA-US 16 4412087 4412087 insertion of <=200bp - C frameshift_variant L493R? BRCA-US 16 4412087 4412087 insertion of <=200bp - C upstream_gene_variant BRCA-US 16 4412094 4412094 single base substitution G C 3_prime_UTR_variant BRCA-US 16 4412094 4412094 single base substitution G C downstream_gene_variant BRCA-US 16 4412094 4412094 single base substitution G C exon_variant BRCA-US 16 4412094 4412094 single base substitution G C synonymous_variant L270L 810C>G BRCA-US 16 4412094 4412094 single base substitution G C synonymous_variant L322L 966C>G BRCA-US 16 4412094 4412094 single base substitution G C synonymous_variant L405L 1215C>G BRCA-US 16 4412094 4412094 single base substitution G C synonymous_variant L472L 1416C>G BRCA-US 16 4412094 4412094 single base substitution G C synonymous_variant L490L 1470C>G BRCA-US 16 4412094 4412094 single base substitution G C upstream_gene_variant BRCA-US 16 4415517 4415517 single base substitution G T 3_prime_UTR_variant BRCA-US 16 4415517 4415517 single base substitution G T exon_variant BRCA-US 16 4415517 4415517 single base substitution G T intron_variant BRCA-US 16 4415517 4415517 single base substitution G T missense_variant S104Y 311C>A BRCA-US 16 4415517 4415517 single base substitution G T missense_variant S117Y 350C>A BRCA-US 16 4415517 4415517 single base substitution G T missense_variant S187Y 560C>A BRCA-US 16 4415517 4415517 single base substitution G T missense_variant S254Y 761C>A BRCA-US 16 4415517 4415517 single base substitution G T missense_variant S272Y 815C>A BRCA-US 16 4415517 4415517 single base substitution G T missense_variant S52Y 155C>A BRCA-US 16 4415517 4415517 single base substitution G T upstream_gene_variant BRCA-US 16 4430999 4430999 single base substitution C T intron_variant BRCA-US 16 4431228 4431228 single base substitution A G intron_variant BRCA-US 16 4458194 4458194 single base substitution C A 3_prime_UTR_variant BRCA-US 16 4458194 4458194 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 16 4458194 4458194 single base substitution C A exon_variant BRCA-US 16 4458194 4458194 single base substitution C A intron_variant BRCA-US 16 4458194 4458194 single base substitution C A synonymous_variant S110S 330G>T BRCA-US 16 4458194 4458194 single base substitution C A synonymous_variant S79S 237G>T BRCA-US 16 4458194 4458194 single base substitution C A synonymous_variant S97S 291G>T BRCA-US 16 4458194 4458194 single base substitution C A upstream_gene_variant BRCA-US 16 4462374 4462374 single base substitution T G 3_prime_UTR_variant BRCA-US 16 4462374 4462374 single base substitution T G 5_prime_UTR_variant BRCA-US 16 4462374 4462374 single base substitution T G downstream_gene_variant BRCA-US 16 4462374 4462374 single base substitution T G exon_variant BRCA-US 16 4462374 4462374 single base substitution T G intron_variant BRCA-US 16 4462374 4462374 single base substitution T G missense_variant H72P 215A>C BRCA-US 16 4462374 4462374 single base substitution T G missense_variant H85P 254A>C BRCA-US 16 4462374 4462374 single base substitution T G upstream_gene_variant BTCA-JP 16 4410862 4410862 single base substitution A T downstream_gene_variant BTCA-JP 16 4410862 4410862 single base substitution A T intron_variant BTCA-JP 16 4410862 4410862 single base substitution A T upstream_gene_variant BTCA-JP 16 4410903 4410903 single base substitution G A downstream_gene_variant BTCA-JP 16 4410903 4410903 single base substitution G A intron_variant BTCA-JP 16 4410903 4410903 single base substitution G A upstream_gene_variant BTCA-JP 16 4410909 4410909 single base substitution C G downstream_gene_variant BTCA-JP 16 4410909 4410909 single base substitution C G intron_variant BTCA-JP 16 4410909 4410909 single base substitution C G upstream_gene_variant BTCA-JP 16 4415023 4415023 single base substitution C G 3_prime_UTR_variant BTCA-JP 16 4415023 4415023 single base substitution C G exon_variant BTCA-JP 16 4415023 4415023 single base substitution C G intron_variant BTCA-JP 16 4415023 4415023 single base substitution C G missense_variant Q125H 375G>C BTCA-JP 16 4415023 4415023 single base substitution C G missense_variant Q138H 414G>C BTCA-JP 16 4415023 4415023 single base substitution C G missense_variant Q208H 624G>C BTCA-JP 16 4415023 4415023 single base substitution C G missense_variant Q275H 825G>C BTCA-JP 16 4415023 4415023 single base substitution C G missense_variant Q293H 879G>C BTCA-JP 16 4415023 4415023 single base substitution C G missense_variant Q73H 219G>C BTCA-JP 16 4415023 4415023 single base substitution C G upstream_gene_variant BTCA-JP 16 4431535 4431535 single base substitution C T intron_variant BTCA-JP 16 4432644 4432644 single base substitution C T intron_variant BTCA-JP 16 4476071 4476071 single base substitution G A upstream_gene_variant CESC-US 16 4409516 4409516 single base substitution C G 3_prime_UTR_variant CESC-US 16 4409516 4409516 single base substitution C G downstream_gene_variant CESC-US 16 4409516 4409516 single base substitution C G exon_variant CESC-US 16 4409516 4409516 single base substitution C G missense_variant D519H 1555G>C CESC-US 16 4409516 4409516 single base substitution C G missense_variant D654H 1960G>C CESC-US 16 4409516 4409516 single base substitution C G missense_variant D721H 2161G>C CESC-US 16 4409516 4409516 single base substitution C G missense_variant D739H 2215G>C CESC-US 16 4409516 4409516 single base substitution C G upstream_gene_variant CESC-US 16 4410478 4410478 single base substitution G A 3_prime_UTR_variant CESC-US 16 4410478 4410478 single base substitution G A downstream_gene_variant CESC-US 16 4410478 4410478 single base substitution G A exon_variant CESC-US 16 4410478 4410478 single base substitution G A synonymous_variant V443V 1329C>T CESC-US 16 4410478 4410478 single base substitution G A synonymous_variant V578V 1734C>T CESC-US 16 4410478 4410478 single base substitution G A synonymous_variant V645V 1935C>T CESC-US 16 4410478 4410478 single base substitution G A synonymous_variant V663V 1989C>T CESC-US 16 4410478 4410478 single base substitution G A upstream_gene_variant CESC-US 16 4412623 4412623 single base substitution C G 3_prime_UTR_variant CESC-US 16 4412623 4412623 single base substitution C G downstream_gene_variant CESC-US 16 4412623 4412623 single base substitution C G exon_variant CESC-US 16 4412623 4412623 single base substitution C G intron_variant CESC-US 16 4412623 4412623 single base substitution C G missense_variant Q244H 732G>C CESC-US 16 4412623 4412623 single base substitution C G missense_variant Q296H 888G>C CESC-US 16 4412623 4412623 single base substitution C G missense_variant Q379H 1137G>C CESC-US 16 4412623 4412623 single base substitution C G missense_variant Q446H 1338G>C CESC-US 16 4412623 4412623 single base substitution C G missense_variant Q464H 1392G>C CESC-US 16 4412623 4412623 single base substitution C G upstream_gene_variant CESC-US 16 4415047 4415047 single base substitution C G 3_prime_UTR_variant CESC-US 16 4415047 4415047 single base substitution C G exon_variant CESC-US 16 4415047 4415047 single base substitution C G intron_variant CESC-US 16 4415047 4415047 single base substitution C G synonymous_variant L117L 351G>C CESC-US 16 4415047 4415047 single base substitution C G synonymous_variant L130L 390G>C CESC-US 16 4415047 4415047 single base substitution C G synonymous_variant L200L 600G>C CESC-US 16 4415047 4415047 single base substitution C G synonymous_variant L267L 801G>C CESC-US 16 4415047 4415047 single base substitution C G synonymous_variant L285L 855G>C CESC-US 16 4415047 4415047 single base substitution C G synonymous_variant L65L 195G>C CESC-US 16 4415047 4415047 single base substitution C G upstream_gene_variant CESC-US 16 4431256 4431256 single base substitution C T intron_variant CESC-US 16 4432189 4432189 single base substitution G A intron_variant CLLE-ES 16 4402809 4402809 single base substitution A T downstream_gene_variant CLLE-ES 16 4460495 4460495 single base substitution G C intron_variant CLLE-ES 16 4460495 4460495 single base substitution G C upstream_gene_variant CLLE-ES 16 4464712 4464712 single base substitution T C downstream_gene_variant CLLE-ES 16 4464712 4464712 single base substitution T C intron_variant CLLE-ES 16 4464712 4464712 single base substitution T C upstream_gene_variant COAD-US 16 4408020 4408020 single base substitution C T 3_prime_UTR_variant COAD-US 16 4408020 4408020 single base substitution C T downstream_gene_variant COAD-US 16 4408020 4408020 single base substitution C T exon_variant COAD-US 16 4408020 4408020 single base substitution C T intron_variant COAD-US 16 4408020 4408020 single base substitution C T missense_variant A57T 169G>A COAD-US 16 4408020 4408020 single base substitution C T missense_variant A628T 1882G>A COAD-US 16 4408020 4408020 single base substitution C T missense_variant A763T 2287G>A COAD-US 16 4408020 4408020 single base substitution C T missense_variant A830T 2488G>A COAD-US 16 4408020 4408020 single base substitution C T missense_variant A848T 2542G>A COAD-US 16 4408375 4408375 single base substitution C T 3_prime_UTR_variant COAD-US 16 4408375 4408375 single base substitution C T downstream_gene_variant COAD-US 16 4408375 4408375 single base substitution C T exon_variant COAD-US 16 4408375 4408375 single base substitution C T missense_variant R26Q 77G>A COAD-US 16 4408375 4408375 single base substitution C T missense_variant R597Q 1790G>A COAD-US 16 4408375 4408375 single base substitution C T missense_variant R732Q 2195G>A COAD-US 16 4408375 4408375 single base substitution C T missense_variant R799Q 2396G>A COAD-US 16 4408375 4408375 single base substitution C T missense_variant R817Q 2450G>A COAD-US 16 4412007 4412007 single base substitution C T 3_prime_UTR_variant COAD-US 16 4412007 4412007 single base substitution C T downstream_gene_variant COAD-US 16 4412007 4412007 single base substitution C T exon_variant COAD-US 16 4412007 4412007 single base substitution C T synonymous_variant G299G 897G>A COAD-US 16 4412007 4412007 single base substitution C T synonymous_variant G351G 1053G>A COAD-US 16 4412007 4412007 single base substitution C T synonymous_variant G434G 1302G>A COAD-US 16 4412007 4412007 single base substitution C T synonymous_variant G501G 1503G>A COAD-US 16 4412007 4412007 single base substitution C T synonymous_variant G519G 1557G>A COAD-US 16 4412007 4412007 single base substitution C T upstream_gene_variant COAD-US 16 4412704 4412704 single base substitution C T 3_prime_UTR_variant COAD-US 16 4412704 4412704 single base substitution C T downstream_gene_variant COAD-US 16 4412704 4412704 single base substitution C T exon_variant COAD-US 16 4412704 4412704 single base substitution C T intron_variant COAD-US 16 4412704 4412704 single base substitution C T synonymous_variant S217S 651G>A COAD-US 16 4412704 4412704 single base substitution C T synonymous_variant S269S 807G>A COAD-US 16 4412704 4412704 single base substitution C T synonymous_variant S352S 1056G>A COAD-US 16 4412704 4412704 single base substitution C T synonymous_variant S419S 1257G>A COAD-US 16 4412704 4412704 single base substitution C T synonymous_variant S437S 1311G>A COAD-US 16 4412704 4412704 single base substitution C T upstream_gene_variant COAD-US 16 4414673 4414673 single base substitution C A 3_prime_UTR_variant COAD-US 16 4414673 4414673 single base substitution C A downstream_gene_variant COAD-US 16 4414673 4414673 single base substitution C A exon_variant COAD-US 16 4414673 4414673 single base substitution C A intron_variant COAD-US 16 4414673 4414673 single base substitution C A missense_variant E134D 402G>T COAD-US 16 4414673 4414673 single base substitution C A missense_variant E186D 558G>T COAD-US 16 4414673 4414673 single base substitution C A missense_variant E199D 597G>T COAD-US 16 4414673 4414673 single base substitution C A missense_variant E269D 807G>T COAD-US 16 4414673 4414673 single base substitution C A missense_variant E336D 1008G>T COAD-US 16 4414673 4414673 single base substitution C A missense_variant E354D 1062G>T COAD-US 16 4414673 4414673 single base substitution C A upstream_gene_variant COAD-US 16 4414805 4414805 single base substitution C T 3_prime_UTR_variant COAD-US 16 4414805 4414805 single base substitution C T downstream_gene_variant COAD-US 16 4414805 4414805 single base substitution C T exon_variant COAD-US 16 4414805 4414805 single base substitution C T intron_variant COAD-US 16 4414805 4414805 single base substitution C T missense_variant V119M 355G>A COAD-US 16 4414805 4414805 single base substitution C T missense_variant V171M 511G>A COAD-US 16 4414805 4414805 single base substitution C T missense_variant V184M 550G>A COAD-US 16 4414805 4414805 single base substitution C T missense_variant V254M 760G>A COAD-US 16 4414805 4414805 single base substitution C T missense_variant V321M 961G>A COAD-US 16 4414805 4414805 single base substitution C T missense_variant V339M 1015G>A COAD-US 16 4414805 4414805 single base substitution C T upstream_gene_variant COAD-US 16 4431373 4431373 single base substitution G C intron_variant COAD-US 16 4431525 4431525 single base substitution G A intron_variant COAD-US 16 4431830 4431830 single base substitution G A intron_variant COAD-US 16 4432072 4432072 single base substitution G A intron_variant COAD-US 16 4432496 4432496 deletion of <=200bp C - intron_variant COAD-US 16 4438579 4438579 single base substitution G T 3_prime_UTR_variant COAD-US 16 4438579 4438579 single base substitution G T downstream_gene_variant COAD-US 16 4438579 4438579 single base substitution G T exon_variant COAD-US 16 4438579 4438579 single base substitution G T intron_variant COAD-US 16 4438579 4438579 single base substitution G T missense_variant P57H 170C>A COAD-US 16 4438579 4438579 single base substitution G T synonymous_variant T127T 381C>A COAD-US 16 4438579 4438579 single base substitution G T synonymous_variant T138T 414C>A COAD-US 16 4438579 4438579 single base substitution G T synonymous_variant T205T 615C>A COAD-US 16 4438579 4438579 single base substitution G T synonymous_variant T223T 669C>A COAD-US 16 4438579 4438579 single base substitution G T synonymous_variant T3T 9C>A COAD-US 16 4438579 4438579 single base substitution G T synonymous_variant T55T 165C>A COAD-US 16 4438579 4438579 single base substitution G T synonymous_variant T68T 204C>A COAD-US 16 4455501 4455501 single base substitution C T 3_prime_UTR_variant COAD-US 16 4455501 4455501 single base substitution C T 5_prime_UTR_variant COAD-US 16 4455501 4455501 single base substitution C T downstream_gene_variant COAD-US 16 4455501 4455501 single base substitution C T exon_variant COAD-US 16 4455501 4455501 single base substitution C T intron_variant COAD-US 16 4455501 4455501 single base substitution C T missense_variant R165Q 494G>A COAD-US 16 4455501 4455501 single base substitution C T missense_variant R19Q 56G>A COAD-US 16 4455501 4455501 single base substitution C T synonymous_variant T100T 300G>A COAD-US 16 4455501 4455501 single base substitution C T synonymous_variant T167T 501G>A COAD-US 16 4455501 4455501 single base substitution C T synonymous_variant T185T 555G>A COAD-US 16 4455501 4455501 single base substitution C T synonymous_variant T198T 594G>A COAD-US 16 4457527 4457527 single base substitution G A 3_prime_UTR_variant COAD-US 16 4457527 4457527 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 16 4457527 4457527 single base substitution G A downstream_gene_variant COAD-US 16 4457527 4457527 single base substitution G A exon_variant COAD-US 16 4457527 4457527 single base substitution G A intron_variant COAD-US 16 4457527 4457527 single base substitution G A synonymous_variant D136D 408C>T COAD-US 16 4457527 4457527 single base substitution G A synonymous_variant D154D 462C>T COAD-US 16 4457527 4457527 single base substitution G A synonymous_variant D167D 501C>T COCA-CN 16 4407356 4407356 single base substitution C T downstream_gene_variant COCA-CN 16 4407356 4407356 single base substitution C T intron_variant COCA-CN 16 4408067 4408067 single base substitution G A 3_prime_UTR_variant COCA-CN 16 4408067 4408067 single base substitution G A downstream_gene_variant COCA-CN 16 4408067 4408067 single base substitution G A exon_variant COCA-CN 16 4408067 4408067 single base substitution G A intron_variant COCA-CN 16 4408067 4408067 single base substitution G A missense_variant A41V 122C>T COCA-CN 16 4408067 4408067 single base substitution G A missense_variant A612V 1835C>T COCA-CN 16 4408067 4408067 single base substitution G A missense_variant A747V 2240C>T COCA-CN 16 4408067 4408067 single base substitution G A missense_variant A814V 2441C>T COCA-CN 16 4408067 4408067 single base substitution G A missense_variant A832V 2495C>T COCA-CN 16 4408096 4408096 single base substitution G T 3_prime_UTR_variant COCA-CN 16 4408096 4408096 single base substitution G T downstream_gene_variant COCA-CN 16 4408096 4408096 single base substitution G T exon_variant COCA-CN 16 4408096 4408096 single base substitution G T intron_variant COCA-CN 16 4408096 4408096 single base substitution G T missense_variant F31L 93C>A COCA-CN 16 4408096 4408096 single base substitution G T missense_variant F602L 1806C>A COCA-CN 16 4408096 4408096 single base substitution G T missense_variant F737L 2211C>A COCA-CN 16 4408096 4408096 single base substitution G T missense_variant F804L 2412C>A COCA-CN 16 4408096 4408096 single base substitution G T missense_variant F822L 2466C>A COCA-CN 16 4408299 4408299 single base substitution C T downstream_gene_variant COCA-CN 16 4408299 4408299 single base substitution C T exon_variant COCA-CN 16 4408299 4408299 single base substitution C T intron_variant COCA-CN 16 4408326 4408326 single base substitution G A downstream_gene_variant COCA-CN 16 4408326 4408326 single base substitution G A exon_variant COCA-CN 16 4408326 4408326 single base substitution G A intron_variant COCA-CN 16 4409296 4409296 single base substitution C T downstream_gene_variant COCA-CN 16 4409296 4409296 single base substitution C T exon_variant COCA-CN 16 4409296 4409296 single base substitution C T splice_donor_variant COCA-CN 16 4409296 4409296 single base substitution C T upstream_gene_variant COCA-CN 16 4410881 4410881 single base substitution A G downstream_gene_variant COCA-CN 16 4410881 4410881 single base substitution A G intron_variant COCA-CN 16 4410881 4410881 single base substitution A G upstream_gene_variant COCA-CN 16 4410889 4410889 single base substitution A T downstream_gene_variant COCA-CN 16 4410889 4410889 single base substitution A T intron_variant COCA-CN 16 4410889 4410889 single base substitution A T upstream_gene_variant COCA-CN 16 4414400 4414400 single base substitution G A 3_prime_UTR_variant COCA-CN 16 4414400 4414400 single base substitution G A downstream_gene_variant COCA-CN 16 4414400 4414400 single base substitution G A exon_variant COCA-CN 16 4414400 4414400 single base substitution G A intron_variant COCA-CN 16 4414400 4414400 single base substitution G A synonymous_variant S164S 492C>T COCA-CN 16 4414400 4414400 single base substitution G A synonymous_variant S216S 648C>T COCA-CN 16 4414400 4414400 single base substitution G A synonymous_variant S299S 897C>T COCA-CN 16 4414400 4414400 single base substitution G A synonymous_variant S366S 1098C>T COCA-CN 16 4414400 4414400 single base substitution G A synonymous_variant S384S 1152C>T COCA-CN 16 4414400 4414400 single base substitution G A upstream_gene_variant COCA-CN 16 4414817 4414817 single base substitution C T 3_prime_UTR_variant COCA-CN 16 4414817 4414817 single base substitution C T downstream_gene_variant COCA-CN 16 4414817 4414817 single base substitution C T exon_variant COCA-CN 16 4414817 4414817 single base substitution C T intron_variant COCA-CN 16 4414817 4414817 single base substitution C T missense_variant D115N 343G>A COCA-CN 16 4414817 4414817 single base substitution C T missense_variant D167N 499G>A COCA-CN 16 4414817 4414817 single base substitution C T missense_variant D180N 538G>A COCA-CN 16 4414817 4414817 single base substitution C T missense_variant D250N 748G>A COCA-CN 16 4414817 4414817 single base substitution C T missense_variant D317N 949G>A COCA-CN 16 4414817 4414817 single base substitution C T missense_variant D335N 1003G>A COCA-CN 16 4414817 4414817 single base substitution C T upstream_gene_variant COCA-CN 16 4431387 4431387 single base substitution G A intron_variant COCA-CN 16 4431871 4431871 single base substitution G A intron_variant COCA-CN 16 4432138 4432138 single base substitution C T intron_variant COCA-CN 16 4432288 4432288 single base substitution G A intron_variant EOPC-DE 16 4410884 4410884 single base substitution T A downstream_gene_variant EOPC-DE 16 4410884 4410884 single base substitution T A intron_variant EOPC-DE 16 4410884 4410884 single base substitution T A upstream_gene_variant EOPC-DE 16 4432973 4432973 single base substitution C T downstream_gene_variant EOPC-DE 16 4432973 4432973 single base substitution C T intron_variant ESAD-UK 16 4402023 4402023 single base substitution G A downstream_gene_variant ESAD-UK 16 4402159 4402159 single base substitution C A downstream_gene_variant ESAD-UK 16 4405219 4405219 single base substitution A C downstream_gene_variant ESAD-UK 16 4405219 4405219 single base substitution A C intron_variant ESAD-UK 16 4405219 4405219 single base substitution A C missense_variant L156R 467T>G ESAD-UK 16 4408245 4408245 deletion of <=200bp G - downstream_gene_variant ESAD-UK 16 4408245 4408245 deletion of <=200bp G - exon_variant ESAD-UK 16 4408245 4408245 deletion of <=200bp G - intron_variant ESAD-UK 16 4412203 4412203 single base substitution G A downstream_gene_variant ESAD-UK 16 4412203 4412203 single base substitution G A intron_variant ESAD-UK 16 4412203 4412203 single base substitution G A upstream_gene_variant ESAD-UK 16 4413268 4413268 deletion of <=200bp A - downstream_gene_variant ESAD-UK 16 4413268 4413268 deletion of <=200bp A - intron_variant ESAD-UK 16 4413268 4413268 deletion of <=200bp A - upstream_gene_variant ESAD-UK 16 4416364 4416364 single base substitution G T intron_variant ESAD-UK 16 4416364 4416364 single base substitution G T upstream_gene_variant ESAD-UK 16 4418023 4418023 single base substitution T C intron_variant ESAD-UK 16 4418023 4418023 single base substitution T C upstream_gene_variant ESAD-UK 16 4418694 4418694 single base substitution G A intron_variant ESAD-UK 16 4418694 4418694 single base substitution G A upstream_gene_variant ESAD-UK 16 4418843 4418843 single base substitution G T intron_variant ESAD-UK 16 4418843 4418843 single base substitution G T upstream_gene_variant ESAD-UK 16 4420661 4420661 single base substitution C T intron_variant ESAD-UK 16 4422253 4422253 single base substitution G C intron_variant ESAD-UK 16 4424599 4424599 single base substitution G A intron_variant ESAD-UK 16 4430956 4430956 single base substitution C T intron_variant ESAD-UK 16 4437854 4437854 insertion of <=200bp - T downstream_gene_variant ESAD-UK 16 4437854 4437854 insertion of <=200bp - T exon_variant ESAD-UK 16 4437854 4437854 insertion of <=200bp - T intron_variant ESAD-UK 16 4437856 4437856 single base substitution G T downstream_gene_variant ESAD-UK 16 4437856 4437856 single base substitution G T exon_variant ESAD-UK 16 4437856 4437856 single base substitution G T intron_variant ESAD-UK 16 4437857 4437857 single base substitution C A downstream_gene_variant ESAD-UK 16 4437857 4437857 single base substitution C A exon_variant ESAD-UK 16 4437857 4437857 single base substitution C A intron_variant ESAD-UK 16 4441602 4441602 single base substitution C T downstream_gene_variant ESAD-UK 16 4441602 4441602 single base substitution C T intron_variant ESAD-UK 16 4443759 4443759 single base substitution C G downstream_gene_variant ESAD-UK 16 4443759 4443759 single base substitution C G intron_variant ESAD-UK 16 4445177 4445177 single base substitution C A downstream_gene_variant ESAD-UK 16 4445177 4445177 single base substitution C A intron_variant ESAD-UK 16 4447800 4447800 single base substitution G A intron_variant ESAD-UK 16 4447800 4447800 single base substitution G A upstream_gene_variant ESAD-UK 16 4448980 4448980 single base substitution A C intron_variant ESAD-UK 16 4448980 4448980 single base substitution A C upstream_gene_variant ESAD-UK 16 4449040 4449040 single base substitution G T intron_variant ESAD-UK 16 4449040 4449040 single base substitution G T upstream_gene_variant ESAD-UK 16 4449321 4449321 single base substitution C T intron_variant ESAD-UK 16 4449321 4449321 single base substitution C T upstream_gene_variant ESAD-UK 16 4455057 4455057 single base substitution T C downstream_gene_variant ESAD-UK 16 4455057 4455057 single base substitution T C intron_variant ESAD-UK 16 4456297 4456297 single base substitution G A downstream_gene_variant ESAD-UK 16 4456297 4456297 single base substitution G A intron_variant ESAD-UK 16 4459367 4459367 single base substitution C T intron_variant ESAD-UK 16 4459367 4459367 single base substitution C T upstream_gene_variant ESAD-UK 16 4460887 4460887 single base substitution T C intron_variant ESAD-UK 16 4460887 4460887 single base substitution T C upstream_gene_variant ESAD-UK 16 4462207 4462207 single base substitution G A downstream_gene_variant ESAD-UK 16 4462207 4462207 single base substitution G A intron_variant ESAD-UK 16 4462207 4462207 single base substitution G A upstream_gene_variant ESAD-UK 16 4464295 4464295 single base substitution C T downstream_gene_variant ESAD-UK 16 4464295 4464295 single base substitution C T intron_variant ESAD-UK 16 4464295 4464295 single base substitution C T upstream_gene_variant ESAD-UK 16 4468072 4468072 single base substitution G A intron_variant ESAD-UK 16 4468072 4468072 single base substitution G A upstream_gene_variant ESAD-UK 16 4468858 4468858 single base substitution G C intron_variant ESAD-UK 16 4468858 4468858 single base substitution G C upstream_gene_variant ESAD-UK 16 4469911 4469911 single base substitution A G intron_variant ESAD-UK 16 4469911 4469911 single base substitution A G upstream_gene_variant ESAD-UK 16 4470268 4470268 single base substitution G A intron_variant ESAD-UK 16 4470268 4470268 single base substitution G A upstream_gene_variant ESAD-UK 16 4470656 4470656 deletion of <=200bp G - intron_variant ESAD-UK 16 4470656 4470656 deletion of <=200bp G - upstream_gene_variant ESAD-UK 16 4473259 4473259 single base substitution A T intron_variant ESAD-UK 16 4477049 4477049 single base substitution G A upstream_gene_variant ESAD-UK 16 4477775 4477775 single base substitution T A upstream_gene_variant ESAD-UK 16 4478677 4478677 single base substitution T C upstream_gene_variant ESAD-UK 16 4478768 4478768 single base substitution G T upstream_gene_variant ESAD-UK 16 4480414 4480414 single base substitution G A upstream_gene_variant ESAD-UK 16 4480616 4480616 single base substitution G A upstream_gene_variant ESCA-CN 16 4408376 4408376 single base substitution G A 3_prime_UTR_variant ESCA-CN 16 4408376 4408376 single base substitution G A downstream_gene_variant ESCA-CN 16 4408376 4408376 single base substitution G A exon_variant ESCA-CN 16 4408376 4408376 single base substitution G A stop_gained R26* 76C>T ESCA-CN 16 4408376 4408376 single base substitution G A stop_gained R597* 1789C>T ESCA-CN 16 4408376 4408376 single base substitution G A stop_gained R732* 2194C>T ESCA-CN 16 4408376 4408376 single base substitution G A stop_gained R799* 2395C>T ESCA-CN 16 4408376 4408376 single base substitution G A stop_gained R817* 2449C>T ESCA-CN 16 4410339 4410339 single base substitution C T 3_prime_UTR_variant ESCA-CN 16 4410339 4410339 single base substitution C T downstream_gene_variant ESCA-CN 16 4410339 4410339 single base substitution C T exon_variant ESCA-CN 16 4410339 4410339 single base substitution C T missense_variant R463H 1388G>A ESCA-CN 16 4410339 4410339 single base substitution C T missense_variant R598H 1793G>A ESCA-CN 16 4410339 4410339 single base substitution C T missense_variant R665H 1994G>A ESCA-CN 16 4410339 4410339 single base substitution C T missense_variant R683H 2048G>A ESCA-CN 16 4410339 4410339 single base substitution C T upstream_gene_variant ESCA-CN 16 4431503 4431503 single base substitution G A intron_variant ESCA-CN 16 4432030 4432030 single base substitution G A intron_variant ESCA-CN 16 4432867 4432867 single base substitution C G downstream_gene_variant ESCA-CN 16 4432867 4432867 single base substitution C G intron_variant ESCA-CN 16 4438627 4438627 single base substitution C A 3_prime_UTR_variant ESCA-CN 16 4438627 4438627 single base substitution C A 5_prime_UTR_variant ESCA-CN 16 4438627 4438627 single base substitution C A exon_variant ESCA-CN 16 4438627 4438627 single base substitution C A intron_variant ESCA-CN 16 4438627 4438627 single base substitution C A missense_variant R187L 560G>T ESCA-CN 16 4438627 4438627 single base substitution C A missense_variant R41L 122G>T ESCA-CN 16 4438627 4438627 single base substitution C A splice_region_variant ESCA-CN 16 4438627 4438627 single base substitution C A synonymous_variant T122T 366G>T ESCA-CN 16 4438627 4438627 single base substitution C A synonymous_variant T189T 567G>T ESCA-CN 16 4438627 4438627 single base substitution C A synonymous_variant T207T 621G>T ESCA-CN 16 4438627 4438627 single base substitution C A synonymous_variant T39T 117G>T ESCA-CN 16 4438627 4438627 single base substitution C A synonymous_variant T52T 156G>T GBM-US 16 4411454 4411454 single base substitution C T 3_prime_UTR_variant GBM-US 16 4411454 4411454 single base substitution C T downstream_gene_variant GBM-US 16 4411454 4411454 single base substitution C T exon_variant GBM-US 16 4411454 4411454 single base substitution C T missense_variant R312H 935G>A GBM-US 16 4411454 4411454 single base substitution C T missense_variant R447H 1340G>A GBM-US 16 4411454 4411454 single base substitution C T missense_variant R514H 1541G>A GBM-US 16 4411454 4411454 single base substitution C T missense_variant R532H 1595G>A GBM-US 16 4411454 4411454 single base substitution C T upstream_gene_variant GBM-US 16 4414382 4414382 single base substitution C T 3_prime_UTR_variant GBM-US 16 4414382 4414382 single base substitution C T downstream_gene_variant GBM-US 16 4414382 4414382 single base substitution C T exon_variant GBM-US 16 4414382 4414382 single base substitution C T intron_variant GBM-US 16 4414382 4414382 single base substitution C T synonymous_variant R170R 510G>A GBM-US 16 4414382 4414382 single base substitution C T synonymous_variant R222R 666G>A GBM-US 16 4414382 4414382 single base substitution C T synonymous_variant R305R 915G>A GBM-US 16 4414382 4414382 single base substitution C T synonymous_variant R372R 1116G>A GBM-US 16 4414382 4414382 single base substitution C T synonymous_variant R390R 1170G>A GBM-US 16 4414382 4414382 single base substitution C T upstream_gene_variant KIRC-US 16 4405287 4405287 single base substitution C A downstream_gene_variant KIRC-US 16 4405287 4405287 single base substitution C A missense_variant W133C 399G>T KIRC-US 16 4405287 4405287 single base substitution C A missense_variant W704C 2112G>T KIRC-US 16 4405287 4405287 single base substitution C A missense_variant W839C 2517G>T KIRC-US 16 4405287 4405287 single base substitution C A missense_variant W906C 2718G>T KIRC-US 16 4405287 4405287 single base substitution C A missense_variant W924C 2772G>T KIRC-US 16 4405287 4405287 single base substitution C A splice_region_variant KIRC-US 16 4408461 4408461 single base substitution C T 3_prime_UTR_variant KIRC-US 16 4408461 4408461 single base substitution C T downstream_gene_variant KIRC-US 16 4408461 4408461 single base substitution C T exon_variant KIRC-US 16 4408461 4408461 single base substitution C T synonymous_variant T568T 1704G>A KIRC-US 16 4408461 4408461 single base substitution C T synonymous_variant T703T 2109G>A KIRC-US 16 4408461 4408461 single base substitution C T synonymous_variant T770T 2310G>A KIRC-US 16 4408461 4408461 single base substitution C T synonymous_variant T788T 2364G>A KIRC-US 16 4408461 4408461 single base substitution C T upstream_gene_variant KIRP-US 16 4432543 4432543 single base substitution A C intron_variant LAML-KR 16 4410884 4410884 single base substitution T A downstream_gene_variant LAML-KR 16 4410884 4410884 single base substitution T A intron_variant LAML-KR 16 4410884 4410884 single base substitution T A upstream_gene_variant LAML-KR 16 4413421 4413421 single base substitution C A downstream_gene_variant LAML-KR 16 4413421 4413421 single base substitution C A intron_variant LAML-KR 16 4413421 4413421 single base substitution C A upstream_gene_variant LAML-KR 16 4413441 4413441 single base substitution T C downstream_gene_variant LAML-KR 16 4413441 4413441 single base substitution T C intron_variant LAML-KR 16 4413441 4413441 single base substitution T C upstream_gene_variant LAML-KR 16 4413668 4413668 single base substitution G A downstream_gene_variant LAML-KR 16 4413668 4413668 single base substitution G A intron_variant LAML-KR 16 4413668 4413668 single base substitution G A upstream_gene_variant LAML-KR 16 4474018 4474018 single base substitution A G intron_variant LAML-KR 16 4474024 4474024 single base substitution T C intron_variant LAML-KR 16 4474030 4474030 single base substitution C T intron_variant LGG-US 16 4431389 4431391 deletion of <=200bp CTG - intron_variant LICA-CN 16 4432288 4432288 single base substitution G A intron_variant LICA-FR 16 4410456 4410456 single base substitution C A 3_prime_UTR_variant LICA-FR 16 4410456 4410456 single base substitution C A downstream_gene_variant LICA-FR 16 4410456 4410456 single base substitution C A exon_variant LICA-FR 16 4410456 4410456 single base substitution C A stop_gained E451* 1351G>T LICA-FR 16 4410456 4410456 single base substitution C A stop_gained E586* 1756G>T LICA-FR 16 4410456 4410456 single base substitution C A stop_gained E653* 1957G>T LICA-FR 16 4410456 4410456 single base substitution C A stop_gained E671* 2011G>T LICA-FR 16 4410456 4410456 single base substitution C A upstream_gene_variant LICA-FR 16 4410467 4410483 deletion of <=200bp CGGGGCCTGTAGACCCG - 3_prime_UTR_variant LICA-FR 16 4410467 4410483 deletion of <=200bp CGGGGCCTGTAGACCCG - downstream_gene_variant LICA-FR 16 4410467 4410483 deletion of <=200bp CGGGGCCTGTAGACCCG - exon_variant LICA-FR 16 4410467 4410483 deletion of <=200bp CGGGGCCTGTAGACCCG - frameshift_variant RVYRPR442 LICA-FR 16 4410467 4410483 deletion of <=200bp CGGGGCCTGTAGACCCG - frameshift_variant RVYRPR577 LICA-FR 16 4410467 4410483 deletion of <=200bp CGGGGCCTGTAGACCCG - frameshift_variant RVYRPR644 LICA-FR 16 4410467 4410483 deletion of <=200bp CGGGGCCTGTAGACCCG - frameshift_variant RVYRPR662 LICA-FR 16 4410467 4410483 deletion of <=200bp CGGGGCCTGTAGACCCG - upstream_gene_variant LICA-FR 16 4426902 4426902 single base substitution T G intron_variant LICA-FR 16 4432636 4432636 single base substitution C A intron_variant LICA-FR 16 4439472 4439472 single base substitution G A intron_variant LICA-FR 16 4447017 4447017 insertion of <=200bp - A intron_variant LICA-FR 16 4447017 4447017 insertion of <=200bp - A upstream_gene_variant LICA-FR 16 4464587 4464587 single base substitution G A downstream_gene_variant LICA-FR 16 4464587 4464587 single base substitution G A intron_variant LICA-FR 16 4464587 4464587 single base substitution G A upstream_gene_variant LICA-FR 16 4471046 4471060 deletion of <=200bp TGGAATGCAGTGGCG - intron_variant LICA-FR 16 4471046 4471060 deletion of <=200bp TGGAATGCAGTGGCG - upstream_gene_variant LIHC-US 16 4431099 4431099 single base substitution G T intron_variant LIHC-US 16 4432163 4432163 single base substitution G A intron_variant LINC-JP 16 4406886 4406886 single base substitution C T downstream_gene_variant LINC-JP 16 4406886 4406886 single base substitution C T exon_variant LINC-JP 16 4406886 4406886 single base substitution C T intron_variant LINC-JP 16 4410862 4410862 single base substitution A T downstream_gene_variant LINC-JP 16 4410862 4410862 single base substitution A T intron_variant LINC-JP 16 4410862 4410862 single base substitution A T upstream_gene_variant LINC-JP 16 4412695 4412695 single base substitution C T 3_prime_UTR_variant LINC-JP 16 4412695 4412695 single base substitution C T downstream_gene_variant LINC-JP 16 4412695 4412695 single base substitution C T exon_variant LINC-JP 16 4412695 4412695 single base substitution C T intron_variant LINC-JP 16 4412695 4412695 single base substitution C T synonymous_variant T220T 660G>A LINC-JP 16 4412695 4412695 single base substitution C T synonymous_variant T272T 816G>A LINC-JP 16 4412695 4412695 single base substitution C T synonymous_variant T355T 1065G>A LINC-JP 16 4412695 4412695 single base substitution C T synonymous_variant T422T 1266G>A LINC-JP 16 4412695 4412695 single base substitution C T synonymous_variant T440T 1320G>A LINC-JP 16 4412695 4412695 single base substitution C T upstream_gene_variant LINC-JP 16 4414246 4414246 single base substitution G T downstream_gene_variant LINC-JP 16 4414246 4414246 single base substitution G T intron_variant LINC-JP 16 4414246 4414246 single base substitution G T upstream_gene_variant LINC-JP 16 4414579 4414579 single base substitution G A downstream_gene_variant LINC-JP 16 4414579 4414579 single base substitution G A intron_variant LINC-JP 16 4414579 4414579 single base substitution G A upstream_gene_variant LINC-JP 16 4432398 4432398 single base substitution G A intron_variant LINC-JP 16 4443633 4443633 single base substitution T A downstream_gene_variant LINC-JP 16 4443633 4443633 single base substitution T A intron_variant LINC-JP 16 4453656 4453656 single base substitution G C downstream_gene_variant LINC-JP 16 4453656 4453656 single base substitution G C intron_variant LINC-JP 16 4453869 4453869 single base substitution C T downstream_gene_variant LINC-JP 16 4453869 4453869 single base substitution C T intron_variant LINC-JP 16 4455002 4455002 single base substitution C A downstream_gene_variant LINC-JP 16 4455002 4455002 single base substitution C A intron_variant LINC-JP 16 4478399 4478399 single base substitution G A upstream_gene_variant LIRI-JP 16 4403219 4403219 single base substitution C T downstream_gene_variant LIRI-JP 16 4406409 4406409 single base substitution T C downstream_gene_variant LIRI-JP 16 4406409 4406409 single base substitution T C intron_variant LIRI-JP 16 4408435 4408435 single base substitution A G 3_prime_UTR_variant LIRI-JP 16 4408435 4408435 single base substitution A G downstream_gene_variant LIRI-JP 16 4408435 4408435 single base substitution A G exon_variant LIRI-JP 16 4408435 4408435 single base substitution A G missense_variant L577P 1730T>C LIRI-JP 16 4408435 4408435 single base substitution A G missense_variant L6P 17T>C LIRI-JP 16 4408435 4408435 single base substitution A G missense_variant L712P 2135T>C LIRI-JP 16 4408435 4408435 single base substitution A G missense_variant L779P 2336T>C LIRI-JP 16 4408435 4408435 single base substitution A G missense_variant L797P 2390T>C LIRI-JP 16 4412483 4412483 single base substitution A G downstream_gene_variant LIRI-JP 16 4412483 4412483 single base substitution A G intron_variant LIRI-JP 16 4412483 4412483 single base substitution A G upstream_gene_variant LIRI-JP 16 4412511 4412511 single base substitution C T downstream_gene_variant LIRI-JP 16 4412511 4412511 single base substitution C T intron_variant LIRI-JP 16 4412511 4412511 single base substitution C T upstream_gene_variant LIRI-JP 16 4414283 4414283 single base substitution G A 3_prime_UTR_variant LIRI-JP 16 4414283 4414283 single base substitution G A downstream_gene_variant LIRI-JP 16 4414283 4414283 single base substitution G A exon_variant LIRI-JP 16 4414283 4414283 single base substitution G A intron_variant LIRI-JP 16 4414283 4414283 single base substitution G A synonymous_variant D203D 609C>T LIRI-JP 16 4414283 4414283 single base substitution G A synonymous_variant D255D 765C>T LIRI-JP 16 4414283 4414283 single base substitution G A synonymous_variant D338D 1014C>T LIRI-JP 16 4414283 4414283 single base substitution G A synonymous_variant D405D 1215C>T LIRI-JP 16 4414283 4414283 single base substitution G A synonymous_variant D423D 1269C>T LIRI-JP 16 4414283 4414283 single base substitution G A upstream_gene_variant LIRI-JP 16 4415270 4415270 single base substitution G A intron_variant LIRI-JP 16 4415270 4415270 single base substitution G A upstream_gene_variant LIRI-JP 16 4418953 4418953 single base substitution C T intron_variant LIRI-JP 16 4418953 4418953 single base substitution C T upstream_gene_variant LIRI-JP 16 4420158 4420158 single base substitution C G intron_variant LIRI-JP 16 4428059 4428059 single base substitution C A intron_variant LIRI-JP 16 4428374 4428374 single base substitution T A intron_variant LIRI-JP 16 4436241 4436241 deletion of <=200bp T - downstream_gene_variant LIRI-JP 16 4436241 4436241 deletion of <=200bp T - intron_variant LIRI-JP 16 4442438 4442438 single base substitution A C downstream_gene_variant LIRI-JP 16 4442438 4442438 single base substitution A C intron_variant LIRI-JP 16 4446611 4446611 single base substitution G A intron_variant LIRI-JP 16 4446611 4446611 single base substitution G A upstream_gene_variant LIRI-JP 16 4451018 4451018 single base substitution G A downstream_gene_variant LIRI-JP 16 4451018 4451018 single base substitution G A intron_variant LIRI-JP 16 4452722 4452722 single base substitution T C downstream_gene_variant LIRI-JP 16 4452722 4452722 single base substitution T C intron_variant LIRI-JP 16 4456123 4456123 single base substitution C T downstream_gene_variant LIRI-JP 16 4456123 4456123 single base substitution C T intron_variant LIRI-JP 16 4459124 4459124 single base substitution C T intron_variant LIRI-JP 16 4459124 4459124 single base substitution C T upstream_gene_variant LIRI-JP 16 4459336 4459336 single base substitution C G intron_variant LIRI-JP 16 4459336 4459336 single base substitution C G upstream_gene_variant LIRI-JP 16 4459684 4459684 single base substitution C T intron_variant LIRI-JP 16 4459684 4459684 single base substitution C T upstream_gene_variant LIRI-JP 16 4459805 4459805 single base substitution A T intron_variant LIRI-JP 16 4459805 4459805 single base substitution A T upstream_gene_variant LIRI-JP 16 4460881 4460881 single base substitution A G intron_variant LIRI-JP 16 4460881 4460881 single base substitution A G upstream_gene_variant LIRI-JP 16 4463104 4463104 single base substitution T C downstream_gene_variant LIRI-JP 16 4463104 4463104 single base substitution T C intron_variant LIRI-JP 16 4463104 4463104 single base substitution T C upstream_gene_variant LIRI-JP 16 4463685 4463685 single base substitution C T downstream_gene_variant LIRI-JP 16 4463685 4463685 single base substitution C T intron_variant LIRI-JP 16 4463685 4463685 single base substitution C T upstream_gene_variant LIRI-JP 16 4469150 4469150 single base substitution A G intron_variant LIRI-JP 16 4469150 4469150 single base substitution A G upstream_gene_variant LIRI-JP 16 4469694 4469694 single base substitution T C intron_variant LIRI-JP 16 4469694 4469694 single base substitution T C upstream_gene_variant LIRI-JP 16 4470974 4470974 single base substitution T C intron_variant LIRI-JP 16 4470974 4470974 single base substitution T C upstream_gene_variant LIRI-JP 16 4473791 4473791 single base substitution G A intron_variant LIRI-JP 16 4475242 4475242 single base substitution G A intron_variant LIRI-JP 16 4476410 4476410 single base substitution G A upstream_gene_variant LIRI-JP 16 4476961 4476961 single base substitution C T upstream_gene_variant LIRI-JP 16 4480383 4480383 single base substitution C G upstream_gene_variant LUSC-KR 16 4405592 4405592 single base substitution C A downstream_gene_variant LUSC-KR 16 4405592 4405592 single base substitution C A intron_variant LUSC-KR 16 4409834 4409834 single base substitution C A downstream_gene_variant LUSC-KR 16 4409834 4409834 single base substitution C A intron_variant LUSC-KR 16 4409834 4409834 single base substitution C A upstream_gene_variant LUSC-KR 16 4410903 4410903 single base substitution G A downstream_gene_variant LUSC-KR 16 4410903 4410903 single base substitution G A intron_variant LUSC-KR 16 4410903 4410903 single base substitution G A upstream_gene_variant LUSC-KR 16 4411988 4411988 single base substitution C T 3_prime_UTR_variant LUSC-KR 16 4411988 4411988 single base substitution C T downstream_gene_variant LUSC-KR 16 4411988 4411988 single base substitution C T exon_variant LUSC-KR 16 4411988 4411988 single base substitution C T missense_variant E306K 916G>A LUSC-KR 16 4411988 4411988 single base substitution C T missense_variant E358K 1072G>A LUSC-KR 16 4411988 4411988 single base substitution C T missense_variant E441K 1321G>A LUSC-KR 16 4411988 4411988 single base substitution C T missense_variant E508K 1522G>A LUSC-KR 16 4411988 4411988 single base substitution C T missense_variant E526K 1576G>A LUSC-KR 16 4411988 4411988 single base substitution C T splice_region_variant LUSC-KR 16 4411988 4411988 single base substitution C T upstream_gene_variant LUSC-KR 16 4414985 4414985 single base substitution G C intron_variant LUSC-KR 16 4414985 4414985 single base substitution G C upstream_gene_variant LUSC-KR 16 4417089 4417089 single base substitution G A intron_variant LUSC-KR 16 4417089 4417089 single base substitution G A upstream_gene_variant LUSC-KR 16 4418256 4418256 single base substitution G C intron_variant LUSC-KR 16 4418256 4418256 single base substitution G C upstream_gene_variant LUSC-KR 16 4420750 4420750 single base substitution T A intron_variant LUSC-KR 16 4421889 4421889 single base substitution G T intron_variant LUSC-KR 16 4425221 4425221 single base substitution C T intron_variant LUSC-KR 16 4426362 4426362 single base substitution G T intron_variant LUSC-KR 16 4426519 4426519 single base substitution C T intron_variant LUSC-KR 16 4434404 4434404 single base substitution C T downstream_gene_variant LUSC-KR 16 4434404 4434404 single base substitution C T intron_variant LUSC-KR 16 4439407 4439407 single base substitution C A intron_variant LUSC-KR 16 4441571 4441571 single base substitution C A downstream_gene_variant LUSC-KR 16 4441571 4441571 single base substitution C A intron_variant LUSC-KR 16 4441797 4441797 single base substitution G A downstream_gene_variant LUSC-KR 16 4441797 4441797 single base substitution G A intron_variant LUSC-KR 16 4444668 4444668 single base substitution T A downstream_gene_variant LUSC-KR 16 4444668 4444668 single base substitution T A intron_variant LUSC-KR 16 4450372 4450372 single base substitution C T intron_variant LUSC-KR 16 4451129 4451129 single base substitution G T downstream_gene_variant LUSC-KR 16 4451129 4451129 single base substitution G T intron_variant LUSC-KR 16 4456977 4456977 single base substitution C A downstream_gene_variant LUSC-KR 16 4456977 4456977 single base substitution C A intron_variant LUSC-KR 16 4464985 4464985 single base substitution C T downstream_gene_variant LUSC-KR 16 4464985 4464985 single base substitution C T intron_variant LUSC-KR 16 4464985 4464985 single base substitution C T upstream_gene_variant LUSC-KR 16 4466627 4466627 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 16 4466627 4466627 single base substitution A G downstream_gene_variant LUSC-KR 16 4466627 4466627 single base substitution A G intron_variant LUSC-KR 16 4466627 4466627 single base substitution A G upstream_gene_variant LUSC-KR 16 4471187 4471187 single base substitution G T intron_variant LUSC-KR 16 4471187 4471187 single base substitution G T upstream_gene_variant LUSC-KR 16 4471301 4471301 single base substitution G T intron_variant LUSC-KR 16 4471301 4471301 single base substitution G T upstream_gene_variant LUSC-KR 16 4471410 4471410 single base substitution C A intron_variant LUSC-KR 16 4471410 4471410 single base substitution C A upstream_gene_variant LUSC-KR 16 4471411 4471411 single base substitution C A intron_variant LUSC-KR 16 4471411 4471411 single base substitution C A upstream_gene_variant LUSC-KR 16 4471535 4471535 single base substitution C A intron_variant LUSC-KR 16 4471535 4471535 single base substitution C A upstream_gene_variant LUSC-KR 16 4475542 4475542 single base substitution C A 5_prime_UTR_variant LUSC-KR 16 4475542 4475542 single base substitution C A upstream_gene_variant LUSC-US 16 4407255 4407255 single base substitution G A 3_prime_UTR_variant LUSC-US 16 4407255 4407255 single base substitution G A downstream_gene_variant LUSC-US 16 4407255 4407255 single base substitution G A exon_variant LUSC-US 16 4407255 4407255 single base substitution G A stop_gained Q647* 1939C>T LUSC-US 16 4407255 4407255 single base substitution G A stop_gained Q76* 226C>T LUSC-US 16 4407255 4407255 single base substitution G A stop_gained Q782* 2344C>T LUSC-US 16 4407255 4407255 single base substitution G A stop_gained Q849* 2545C>T LUSC-US 16 4407255 4407255 single base substitution G A stop_gained Q867* 2599C>T LUSC-US 16 4410973 4410973 single base substitution G A 3_prime_UTR_variant LUSC-US 16 4410973 4410973 single base substitution G A downstream_gene_variant LUSC-US 16 4410973 4410973 single base substitution G A exon_variant LUSC-US 16 4410973 4410973 single base substitution G A missense_variant R410W 1228C>T LUSC-US 16 4410973 4410973 single base substitution G A missense_variant R545W 1633C>T LUSC-US 16 4410973 4410973 single base substitution G A missense_variant R612W 1834C>T LUSC-US 16 4410973 4410973 single base substitution G A missense_variant R630W 1888C>T LUSC-US 16 4410973 4410973 single base substitution G A upstream_gene_variant LUSC-US 16 4411466 4411466 single base substitution C T 3_prime_UTR_variant LUSC-US 16 4411466 4411466 single base substitution C T downstream_gene_variant LUSC-US 16 4411466 4411466 single base substitution C T exon_variant LUSC-US 16 4411466 4411466 single base substitution C T missense_variant R308Q 923G>A LUSC-US 16 4411466 4411466 single base substitution C T missense_variant R443Q 1328G>A LUSC-US 16 4411466 4411466 single base substitution C T missense_variant R510Q 1529G>A LUSC-US 16 4411466 4411466 single base substitution C T missense_variant R528Q 1583G>A LUSC-US 16 4411466 4411466 single base substitution C T upstream_gene_variant LUSC-US 16 4414342 4414342 deletion of <=200bp C - 3_prime_UTR_variant LUSC-US 16 4414342 4414342 deletion of <=200bp C - downstream_gene_variant LUSC-US 16 4414342 4414342 deletion of <=200bp C - exon_variant LUSC-US 16 4414342 4414342 deletion of <=200bp C - frameshift_variant E184 LUSC-US 16 4414342 4414342 deletion of <=200bp C - frameshift_variant E236 LUSC-US 16 4414342 4414342 deletion of <=200bp C - frameshift_variant E319 LUSC-US 16 4414342 4414342 deletion of <=200bp C - frameshift_variant E386 LUSC-US 16 4414342 4414342 deletion of <=200bp C - frameshift_variant E404 LUSC-US 16 4414342 4414342 deletion of <=200bp C - intron_variant LUSC-US 16 4414342 4414342 deletion of <=200bp C - upstream_gene_variant LUSC-US 16 4414874 4414874 single base substitution G C 3_prime_UTR_variant LUSC-US 16 4414874 4414874 single base substitution G C exon_variant LUSC-US 16 4414874 4414874 single base substitution G C intron_variant LUSC-US 16 4414874 4414874 single base substitution G C missense_variant P148A 442C>G LUSC-US 16 4414874 4414874 single base substitution G C missense_variant P161A 481C>G LUSC-US 16 4414874 4414874 single base substitution G C missense_variant P231A 691C>G LUSC-US 16 4414874 4414874 single base substitution G C missense_variant P298A 892C>G LUSC-US 16 4414874 4414874 single base substitution G C missense_variant P316A 946C>G LUSC-US 16 4414874 4414874 single base substitution G C missense_variant P96A 286C>G LUSC-US 16 4414874 4414874 single base substitution G C upstream_gene_variant LUSC-US 16 4415002 4415002 single base substitution A T intron_variant LUSC-US 16 4415002 4415002 single base substitution A T splice_donor_variant LUSC-US 16 4415002 4415002 single base substitution A T upstream_gene_variant LUSC-US 16 4415025 4415025 single base substitution G A 3_prime_UTR_variant LUSC-US 16 4415025 4415025 single base substitution G A exon_variant LUSC-US 16 4415025 4415025 single base substitution G A intron_variant LUSC-US 16 4415025 4415025 single base substitution G A stop_gained Q125* 373C>T LUSC-US 16 4415025 4415025 single base substitution G A stop_gained Q138* 412C>T LUSC-US 16 4415025 4415025 single base substitution G A stop_gained Q208* 622C>T LUSC-US 16 4415025 4415025 single base substitution G A stop_gained Q275* 823C>T LUSC-US 16 4415025 4415025 single base substitution G A stop_gained Q293* 877C>T LUSC-US 16 4415025 4415025 single base substitution G A stop_gained Q73* 217C>T LUSC-US 16 4415025 4415025 single base substitution G A upstream_gene_variant LUSC-US 16 4431739 4431739 single base substitution C A intron_variant LUSC-US 16 4431778 4431778 single base substitution C T intron_variant MALY-DE 16 4420616 4420616 single base substitution C A intron_variant MALY-DE 16 4426651 4426651 single base substitution G A intron_variant MALY-DE 16 4430428 4430428 single base substitution C T intron_variant MALY-DE 16 4446485 4446485 single base substitution T C intron_variant MALY-DE 16 4446485 4446485 single base substitution T C upstream_gene_variant MALY-DE 16 4453083 4453083 single base substitution G T downstream_gene_variant MALY-DE 16 4453083 4453083 single base substitution G T intron_variant MALY-DE 16 4453569 4453569 single base substitution A G downstream_gene_variant MALY-DE 16 4453569 4453569 single base substitution A G intron_variant MALY-DE 16 4469218 4469218 single base substitution T C intron_variant MALY-DE 16 4469218 4469218 single base substitution T C upstream_gene_variant MALY-DE 16 4476599 4476599 single base substitution T A upstream_gene_variant MELA-AU 16 4399901 4399901 single base substitution G A downstream_gene_variant MELA-AU 16 4400099 4400099 single base substitution G A downstream_gene_variant MELA-AU 16 4400326 4400326 single base substitution A T downstream_gene_variant MELA-AU 16 4401333 4401333 single base substitution G A downstream_gene_variant MELA-AU 16 4401415 4401415 single base substitution G A downstream_gene_variant MELA-AU 16 4401951 4401951 single base substitution C G downstream_gene_variant MELA-AU 16 4402126 4402126 single base substitution G A downstream_gene_variant MELA-AU 16 4402511 4402511 single base substitution A G downstream_gene_variant MELA-AU 16 4402988 4402988 single base substitution A T downstream_gene_variant MELA-AU 16 4403148 4403148 insertion of <=200bp - A downstream_gene_variant MELA-AU 16 4403604 4403604 single base substitution G A downstream_gene_variant MELA-AU 16 4403811 4403812 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 4404405 4404405 single base substitution C T downstream_gene_variant MELA-AU 16 4404860 4404860 single base substitution G A 3_prime_UTR_variant MELA-AU 16 4404860 4404860 single base substitution G A downstream_gene_variant MELA-AU 16 4404887 4404887 single base substitution G A 3_prime_UTR_variant MELA-AU 16 4404887 4404887 single base substitution G A downstream_gene_variant MELA-AU 16 4405105 4405105 single base substitution G A 3_prime_UTR_variant MELA-AU 16 4405105 4405105 single base substitution G A downstream_gene_variant MELA-AU 16 4405172 4405172 single base substitution G A downstream_gene_variant MELA-AU 16 4405172 4405172 single base substitution G A intron_variant MELA-AU 16 4405172 4405172 single base substitution G A missense_variant R172C 514C>T MELA-AU 16 4405214 4405214 single base substitution G A downstream_gene_variant MELA-AU 16 4405214 4405214 single base substitution G A intron_variant MELA-AU 16 4405214 4405214 single base substitution G A missense_variant P158S 472C>T MELA-AU 16 4405315 4405315 single base substitution G A 3_prime_UTR_variant MELA-AU 16 4405315 4405315 single base substitution G A downstream_gene_variant MELA-AU 16 4405315 4405315 single base substitution G A missense_variant S124F 371C>T MELA-AU 16 4405315 4405315 single base substitution G A missense_variant S695F 2084C>T MELA-AU 16 4405315 4405315 single base substitution G A missense_variant S830F 2489C>T MELA-AU 16 4405315 4405315 single base substitution G A missense_variant S897F 2690C>T MELA-AU 16 4405315 4405315 single base substitution G A missense_variant S915F 2744C>T MELA-AU 16 4405326 4405326 single base substitution G A 3_prime_UTR_variant MELA-AU 16 4405326 4405326 single base substitution G A downstream_gene_variant MELA-AU 16 4405326 4405326 single base substitution G A synonymous_variant L120L 360C>T MELA-AU 16 4405326 4405326 single base substitution G A synonymous_variant L691L 2073C>T MELA-AU 16 4405326 4405326 single base substitution G A synonymous_variant L826L 2478C>T MELA-AU 16 4405326 4405326 single base substitution G A synonymous_variant L893L 2679C>T MELA-AU 16 4405326 4405326 single base substitution G A synonymous_variant L911L 2733C>T MELA-AU 16 4405405 4405405 single base substitution G A downstream_gene_variant MELA-AU 16 4405405 4405405 single base substitution G A intron_variant MELA-AU 16 4405406 4405406 single base substitution G A downstream_gene_variant MELA-AU 16 4405406 4405406 single base substitution G A intron_variant MELA-AU 16 4405663 4405663 single base substitution G A downstream_gene_variant MELA-AU 16 4405663 4405663 single base substitution G A intron_variant MELA-AU 16 4407777 4407777 single base substitution G A downstream_gene_variant MELA-AU 16 4407777 4407777 single base substitution G A exon_variant MELA-AU 16 4407777 4407777 single base substitution G A intron_variant MELA-AU 16 4407962 4407963 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 4407962 4407963 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 16 4407962 4407963 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 4407962 4407963 multiple base substitution (>=2bp and <=200bp) GG AA splice_region_variant MELA-AU 16 4408498 4408498 single base substitution G A downstream_gene_variant MELA-AU 16 4408498 4408498 single base substitution G A intron_variant MELA-AU 16 4408498 4408498 single base substitution G A upstream_gene_variant MELA-AU 16 4409006 4409006 single base substitution G T downstream_gene_variant MELA-AU 16 4409006 4409006 single base substitution G T exon_variant MELA-AU 16 4409006 4409006 single base substitution G T intron_variant MELA-AU 16 4409006 4409006 single base substitution G T upstream_gene_variant MELA-AU 16 4409246 4409246 single base substitution G A downstream_gene_variant MELA-AU 16 4409246 4409246 single base substitution G A exon_variant MELA-AU 16 4409246 4409246 single base substitution G A intron_variant MELA-AU 16 4409246 4409246 single base substitution G A upstream_gene_variant MELA-AU 16 4409336 4409336 single base substitution G A 3_prime_UTR_variant MELA-AU 16 4409336 4409336 single base substitution G A downstream_gene_variant MELA-AU 16 4409336 4409336 single base substitution G A exon_variant MELA-AU 16 4409336 4409336 single base substitution G A synonymous_variant F547F 1641C>T MELA-AU 16 4409336 4409336 single base substitution G A synonymous_variant F682F 2046C>T MELA-AU 16 4409336 4409336 single base substitution G A synonymous_variant F749F 2247C>T MELA-AU 16 4409336 4409336 single base substitution G A synonymous_variant F767F 2301C>T MELA-AU 16 4409336 4409336 single base substitution G A upstream_gene_variant MELA-AU 16 4409368 4409368 single base substitution G A 3_prime_UTR_variant MELA-AU 16 4409368 4409368 single base substitution G A downstream_gene_variant MELA-AU 16 4409368 4409368 single base substitution G A exon_variant MELA-AU 16 4409368 4409368 single base substitution G A synonymous_variant L537L 1609C>T MELA-AU 16 4409368 4409368 single base substitution G A synonymous_variant L672L 2014C>T MELA-AU 16 4409368 4409368 single base substitution G A synonymous_variant L739L 2215C>T MELA-AU 16 4409368 4409368 single base substitution G A synonymous_variant L757L 2269C>T MELA-AU 16 4409368 4409368 single base substitution G A upstream_gene_variant MELA-AU 16 4409393 4409393 single base substitution G A downstream_gene_variant MELA-AU 16 4409393 4409393 single base substitution G A intron_variant MELA-AU 16 4409393 4409393 single base substitution G A splice_region_variant MELA-AU 16 4409393 4409393 single base substitution G A upstream_gene_variant MELA-AU 16 4411318 4411318 single base substitution G A downstream_gene_variant MELA-AU 16 4411318 4411318 single base substitution G A intron_variant MELA-AU 16 4411318 4411318 single base substitution G A upstream_gene_variant MELA-AU 16 4412197 4412197 single base substitution G A downstream_gene_variant MELA-AU 16 4412197 4412197 single base substitution G A intron_variant MELA-AU 16 4412197 4412197 single base substitution G A upstream_gene_variant MELA-AU 16 4412869 4412869 single base substitution G A downstream_gene_variant MELA-AU 16 4412869 4412869 single base substitution G A exon_variant MELA-AU 16 4412869 4412869 single base substitution G A intron_variant MELA-AU 16 4412869 4412869 single base substitution G A upstream_gene_variant MELA-AU 16 4412937 4412937 single base substitution G A downstream_gene_variant MELA-AU 16 4412937 4412937 single base substitution G A exon_variant MELA-AU 16 4412937 4412937 single base substitution G A intron_variant MELA-AU 16 4412937 4412937 single base substitution G A upstream_gene_variant MELA-AU 16 4413013 4413013 single base substitution A C downstream_gene_variant MELA-AU 16 4413013 4413013 single base substitution A C exon_variant MELA-AU 16 4413013 4413013 single base substitution A C intron_variant MELA-AU 16 4413013 4413013 single base substitution A C upstream_gene_variant MELA-AU 16 4414250 4414250 single base substitution G A downstream_gene_variant MELA-AU 16 4414250 4414250 single base substitution G A intron_variant MELA-AU 16 4414250 4414250 single base substitution G A upstream_gene_variant MELA-AU 16 4414361 4414361 single base substitution G A 3_prime_UTR_variant MELA-AU 16 4414361 4414361 single base substitution G A downstream_gene_variant MELA-AU 16 4414361 4414361 single base substitution G A exon_variant MELA-AU 16 4414361 4414361 single base substitution G A intron_variant MELA-AU 16 4414361 4414361 single base substitution G A synonymous_variant S177S 531C>T MELA-AU 16 4414361 4414361 single base substitution G A synonymous_variant S229S 687C>T MELA-AU 16 4414361 4414361 single base substitution G A synonymous_variant S312S 936C>T MELA-AU 16 4414361 4414361 single base substitution G A synonymous_variant S379S 1137C>T MELA-AU 16 4414361 4414361 single base substitution G A synonymous_variant S397S 1191C>T MELA-AU 16 4414361 4414361 single base substitution G A upstream_gene_variant MELA-AU 16 4414496 4414496 single base substitution G A downstream_gene_variant MELA-AU 16 4414496 4414496 single base substitution G A exon_variant MELA-AU 16 4414496 4414496 single base substitution G A intron_variant MELA-AU 16 4414496 4414496 single base substitution G A upstream_gene_variant MELA-AU 16 4414497 4414497 single base substitution G A downstream_gene_variant MELA-AU 16 4414497 4414497 single base substitution G A exon_variant MELA-AU 16 4414497 4414497 single base substitution G A intron_variant MELA-AU 16 4414497 4414497 single base substitution G A upstream_gene_variant MELA-AU 16 4414504 4414504 single base substitution G A downstream_gene_variant MELA-AU 16 4414504 4414504 single base substitution G A exon_variant MELA-AU 16 4414504 4414504 single base substitution G A intron_variant MELA-AU 16 4414504 4414504 single base substitution G A upstream_gene_variant MELA-AU 16 4414836 4414836 single base substitution G A 3_prime_UTR_variant MELA-AU 16 4414836 4414836 single base substitution G A exon_variant MELA-AU 16 4414836 4414836 single base substitution G A intron_variant MELA-AU 16 4414836 4414836 single base substitution G A synonymous_variant L108L 324C>T MELA-AU 16 4414836 4414836 single base substitution G A synonymous_variant L160L 480C>T MELA-AU 16 4414836 4414836 single base substitution G A synonymous_variant L173L 519C>T MELA-AU 16 4414836 4414836 single base substitution G A synonymous_variant L243L 729C>T MELA-AU 16 4414836 4414836 single base substitution G A synonymous_variant L310L 930C>T MELA-AU 16 4414836 4414836 single base substitution G A synonymous_variant L328L 984C>T MELA-AU 16 4414836 4414836 single base substitution G A upstream_gene_variant MELA-AU 16 4415108 4415109 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 4415108 4415109 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 4415179 4415179 single base substitution G A intron_variant MELA-AU 16 4415179 4415179 single base substitution G A upstream_gene_variant MELA-AU 16 4415224 4415224 single base substitution C T intron_variant MELA-AU 16 4415224 4415224 single base substitution C T upstream_gene_variant MELA-AU 16 4415796 4415796 single base substitution G A intron_variant MELA-AU 16 4415796 4415796 single base substitution G A upstream_gene_variant MELA-AU 16 4415805 4415805 single base substitution G A intron_variant MELA-AU 16 4415805 4415805 single base substitution G A upstream_gene_variant MELA-AU 16 4415911 4415911 single base substitution G A intron_variant MELA-AU 16 4415911 4415911 single base substitution G A upstream_gene_variant MELA-AU 16 4416880 4416880 single base substitution C T intron_variant MELA-AU 16 4416880 4416880 single base substitution C T upstream_gene_variant MELA-AU 16 4417670 4417670 single base substitution G A intron_variant MELA-AU 16 4417670 4417670 single base substitution G A upstream_gene_variant MELA-AU 16 4418045 4418045 single base substitution A C intron_variant MELA-AU 16 4418045 4418045 single base substitution A C upstream_gene_variant MELA-AU 16 4418110 4418110 single base substitution G A intron_variant MELA-AU 16 4418110 4418110 single base substitution G A upstream_gene_variant MELA-AU 16 4418833 4418833 single base substitution G A intron_variant MELA-AU 16 4418833 4418833 single base substitution G A upstream_gene_variant MELA-AU 16 4419463 4419463 single base substitution G A intron_variant MELA-AU 16 4419463 4419463 single base substitution G A upstream_gene_variant MELA-AU 16 4421705 4421705 single base substitution G A intron_variant MELA-AU 16 4421734 4421734 single base substitution G A intron_variant MELA-AU 16 4422244 4422244 single base substitution C T intron_variant MELA-AU 16 4423160 4423160 single base substitution A G intron_variant MELA-AU 16 4423452 4423452 single base substitution G A intron_variant MELA-AU 16 4424525 4424525 single base substitution G A intron_variant MELA-AU 16 4424548 4424548 single base substitution A T intron_variant MELA-AU 16 4425178 4425178 single base substitution C T intron_variant MELA-AU 16 4425391 4425391 deletion of <=200bp T - intron_variant MELA-AU 16 4426194 4426194 single base substitution C T intron_variant MELA-AU 16 4428342 4428342 single base substitution G A intron_variant MELA-AU 16 4430134 4430134 single base substitution T C intron_variant MELA-AU 16 4430823 4430823 single base substitution G A intron_variant MELA-AU 16 4431796 4431796 single base substitution G A intron_variant MELA-AU 16 4432552 4432552 single base substitution C T intron_variant MELA-AU 16 4433523 4433523 single base substitution T A downstream_gene_variant MELA-AU 16 4433523 4433523 single base substitution T A intron_variant MELA-AU 16 4434042 4434042 single base substitution G A downstream_gene_variant MELA-AU 16 4434042 4434042 single base substitution G A intron_variant MELA-AU 16 4435077 4435077 single base substitution G A downstream_gene_variant MELA-AU 16 4435077 4435077 single base substitution G A intron_variant MELA-AU 16 4435144 4435144 single base substitution G A downstream_gene_variant MELA-AU 16 4435144 4435144 single base substitution G A intron_variant MELA-AU 16 4435564 4435564 single base substitution C A downstream_gene_variant MELA-AU 16 4435564 4435564 single base substitution C A intron_variant MELA-AU 16 4436017 4436017 single base substitution G A downstream_gene_variant MELA-AU 16 4436017 4436017 single base substitution G A intron_variant MELA-AU 16 4436053 4436053 single base substitution G A downstream_gene_variant MELA-AU 16 4436053 4436053 single base substitution G A intron_variant MELA-AU 16 4436091 4436091 single base substitution G A downstream_gene_variant MELA-AU 16 4436091 4436091 single base substitution G A intron_variant MELA-AU 16 4437256 4437256 single base substitution G A downstream_gene_variant MELA-AU 16 4437256 4437256 single base substitution G A intron_variant MELA-AU 16 4437387 4437387 single base substitution G A downstream_gene_variant MELA-AU 16 4437387 4437387 single base substitution G A intron_variant MELA-AU 16 4437805 4437805 single base substitution G A downstream_gene_variant MELA-AU 16 4437805 4437805 single base substitution G A exon_variant MELA-AU 16 4437805 4437805 single base substitution G A intron_variant MELA-AU 16 4438137 4438137 single base substitution G A downstream_gene_variant MELA-AU 16 4438137 4438137 single base substitution G A intron_variant MELA-AU 16 4438220 4438220 single base substitution G A downstream_gene_variant MELA-AU 16 4438220 4438220 single base substitution G A intron_variant MELA-AU 16 4438281 4438281 single base substitution G A downstream_gene_variant MELA-AU 16 4438281 4438281 single base substitution G A intron_variant MELA-AU 16 4438303 4438303 single base substitution C T downstream_gene_variant MELA-AU 16 4438303 4438303 single base substitution C T intron_variant MELA-AU 16 4438534 4438534 single base substitution G A downstream_gene_variant MELA-AU 16 4438534 4438534 single base substitution G A intron_variant MELA-AU 16 4438579 4438580 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 16 4438579 4438580 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 4438579 4438580 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 16 4438579 4438580 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 4438579 4438580 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P57F 169CC>TT MELA-AU 16 4438579 4438580 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant T127I 380CC>TT MELA-AU 16 4438579 4438580 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant T138I 413CC>TT MELA-AU 16 4438579 4438580 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant T205I 614CC>TT MELA-AU 16 4438579 4438580 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant T223I 668CC>TT MELA-AU 16 4438579 4438580 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant T3I 8CC>TT MELA-AU 16 4438579 4438580 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant T55I 164CC>TT MELA-AU 16 4438579 4438580 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant T68I 203CC>TT MELA-AU 16 4438650 4438650 single base substitution T A intron_variant MELA-AU 16 4438923 4438923 single base substitution C A intron_variant MELA-AU 16 4439137 4439137 single base substitution G A intron_variant MELA-AU 16 4439959 4439959 single base substitution G A intron_variant MELA-AU 16 4440156 4440156 single base substitution G A intron_variant MELA-AU 16 4440289 4440289 single base substitution G A intron_variant MELA-AU 16 4441234 4441234 single base substitution G A downstream_gene_variant MELA-AU 16 4441234 4441234 single base substitution G A intron_variant MELA-AU 16 4442165 4442165 single base substitution G A downstream_gene_variant MELA-AU 16 4442165 4442165 single base substitution G A intron_variant MELA-AU 16 4442380 4442380 single base substitution G A downstream_gene_variant MELA-AU 16 4442380 4442380 single base substitution G A intron_variant MELA-AU 16 4442444 4442444 single base substitution G A downstream_gene_variant MELA-AU 16 4442444 4442444 single base substitution G A intron_variant MELA-AU 16 4443080 4443080 single base substitution G A downstream_gene_variant MELA-AU 16 4443080 4443080 single base substitution G A intron_variant MELA-AU 16 4443114 4443114 single base substitution A G downstream_gene_variant MELA-AU 16 4443114 4443114 single base substitution A G intron_variant MELA-AU 16 4443157 4443157 single base substitution G A downstream_gene_variant MELA-AU 16 4443157 4443157 single base substitution G A intron_variant MELA-AU 16 4443678 4443678 single base substitution G A downstream_gene_variant MELA-AU 16 4443678 4443678 single base substitution G A intron_variant MELA-AU 16 4443943 4443943 single base substitution T A downstream_gene_variant MELA-AU 16 4443943 4443943 single base substitution T A intron_variant MELA-AU 16 4443968 4443968 single base substitution G A downstream_gene_variant MELA-AU 16 4443968 4443968 single base substitution G A intron_variant MELA-AU 16 4444309 4444309 single base substitution G A downstream_gene_variant MELA-AU 16 4444309 4444309 single base substitution G A intron_variant MELA-AU 16 4445162 4445162 single base substitution G A downstream_gene_variant MELA-AU 16 4445162 4445162 single base substitution G A intron_variant MELA-AU 16 4445163 4445163 single base substitution G A downstream_gene_variant MELA-AU 16 4445163 4445163 single base substitution G A intron_variant MELA-AU 16 4445354 4445354 single base substitution G A intron_variant MELA-AU 16 4445354 4445354 single base substitution G A upstream_gene_variant MELA-AU 16 4445377 4445378 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 4445377 4445378 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 4445386 4445386 single base substitution G A intron_variant MELA-AU 16 4445386 4445386 single base substitution G A upstream_gene_variant MELA-AU 16 4445529 4445529 single base substitution C T intron_variant MELA-AU 16 4445529 4445529 single base substitution C T upstream_gene_variant MELA-AU 16 4445791 4445791 single base substitution G A intron_variant MELA-AU 16 4445791 4445791 single base substitution G A upstream_gene_variant MELA-AU 16 4445899 4445899 single base substitution G A intron_variant MELA-AU 16 4445899 4445899 single base substitution G A upstream_gene_variant MELA-AU 16 4445970 4445970 single base substitution G A intron_variant MELA-AU 16 4445970 4445970 single base substitution G A upstream_gene_variant MELA-AU 16 4446216 4446216 single base substitution G A intron_variant MELA-AU 16 4446216 4446216 single base substitution G A upstream_gene_variant MELA-AU 16 4447371 4447371 single base substitution G T 3_prime_UTR_variant MELA-AU 16 4447371 4447371 single base substitution G T intron_variant MELA-AU 16 4447371 4447371 single base substitution G T upstream_gene_variant MELA-AU 16 4447596 4447596 single base substitution G A intron_variant MELA-AU 16 4447596 4447596 single base substitution G A upstream_gene_variant MELA-AU 16 4447656 4447656 single base substitution C T intron_variant MELA-AU 16 4447656 4447656 single base substitution C T upstream_gene_variant MELA-AU 16 4448927 4448927 single base substitution C T intron_variant MELA-AU 16 4448927 4448927 single base substitution C T upstream_gene_variant MELA-AU 16 4449258 4449258 single base substitution G A intron_variant MELA-AU 16 4449258 4449258 single base substitution G A upstream_gene_variant MELA-AU 16 4449491 4449491 single base substitution G A intron_variant MELA-AU 16 4449491 4449491 single base substitution G A upstream_gene_variant MELA-AU 16 4450043 4450043 single base substitution G A intron_variant MELA-AU 16 4450043 4450043 single base substitution G A upstream_gene_variant MELA-AU 16 4450426 4450426 single base substitution G A intron_variant MELA-AU 16 4451135 4451135 single base substitution G A downstream_gene_variant MELA-AU 16 4451135 4451135 single base substitution G A intron_variant MELA-AU 16 4451168 4451168 single base substitution G A downstream_gene_variant MELA-AU 16 4451168 4451168 single base substitution G A intron_variant MELA-AU 16 4451977 4451977 single base substitution T C downstream_gene_variant MELA-AU 16 4451977 4451977 single base substitution T C intron_variant MELA-AU 16 4452994 4452994 single base substitution G A downstream_gene_variant MELA-AU 16 4452994 4452994 single base substitution G A intron_variant MELA-AU 16 4453323 4453323 single base substitution G A downstream_gene_variant MELA-AU 16 4453323 4453323 single base substitution G A intron_variant MELA-AU 16 4453517 4453517 single base substitution G A downstream_gene_variant MELA-AU 16 4453517 4453517 single base substitution G A intron_variant MELA-AU 16 4453586 4453586 single base substitution G A downstream_gene_variant MELA-AU 16 4453586 4453586 single base substitution G A intron_variant MELA-AU 16 4453670 4453670 single base substitution G A downstream_gene_variant MELA-AU 16 4453670 4453670 single base substitution G A intron_variant MELA-AU 16 4453681 4453681 single base substitution G A downstream_gene_variant MELA-AU 16 4453681 4453681 single base substitution G A intron_variant MELA-AU 16 4453992 4453992 single base substitution G A downstream_gene_variant MELA-AU 16 4453992 4453992 single base substitution G A intron_variant MELA-AU 16 4454279 4454279 single base substitution G A downstream_gene_variant MELA-AU 16 4454279 4454279 single base substitution G A intron_variant MELA-AU 16 4454719 4454719 single base substitution C T downstream_gene_variant MELA-AU 16 4454719 4454719 single base substitution C T intron_variant MELA-AU 16 4455351 4455351 single base substitution G A downstream_gene_variant MELA-AU 16 4455351 4455351 single base substitution G A intron_variant MELA-AU 16 4455696 4455696 single base substitution G A downstream_gene_variant MELA-AU 16 4455696 4455696 single base substitution G A intron_variant MELA-AU 16 4455698 4455698 single base substitution G A downstream_gene_variant MELA-AU 16 4455698 4455698 single base substitution G A intron_variant MELA-AU 16 4456080 4456080 single base substitution A G downstream_gene_variant MELA-AU 16 4456080 4456080 single base substitution A G intron_variant MELA-AU 16 4456085 4456086 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 4456085 4456086 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 4457174 4457174 single base substitution C T downstream_gene_variant MELA-AU 16 4457174 4457174 single base substitution C T intron_variant MELA-AU 16 4457475 4457475 single base substitution G A downstream_gene_variant MELA-AU 16 4457475 4457475 single base substitution G A intron_variant MELA-AU 16 4457851 4457851 single base substitution G A downstream_gene_variant MELA-AU 16 4457851 4457851 single base substitution G A intron_variant MELA-AU 16 4457851 4457851 single base substitution G A upstream_gene_variant MELA-AU 16 4457909 4457909 single base substitution G A downstream_gene_variant MELA-AU 16 4457909 4457909 single base substitution G A intron_variant MELA-AU 16 4457909 4457909 single base substitution G A upstream_gene_variant MELA-AU 16 4457926 4457926 single base substitution G A downstream_gene_variant MELA-AU 16 4457926 4457926 single base substitution G A intron_variant MELA-AU 16 4457926 4457926 single base substitution G A upstream_gene_variant MELA-AU 16 4458281 4458281 single base substitution G A intron_variant MELA-AU 16 4458281 4458281 single base substitution G A upstream_gene_variant MELA-AU 16 4459121 4459121 single base substitution G A intron_variant MELA-AU 16 4459121 4459121 single base substitution G A upstream_gene_variant MELA-AU 16 4459778 4459779 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 16 4459778 4459779 multiple base substitution (>=2bp and <=200bp) GA AC upstream_gene_variant MELA-AU 16 4461560 4461560 single base substitution A T downstream_gene_variant MELA-AU 16 4461560 4461560 single base substitution A T intron_variant MELA-AU 16 4461560 4461560 single base substitution A T upstream_gene_variant MELA-AU 16 4462496 4462496 single base substitution G A downstream_gene_variant MELA-AU 16 4462496 4462496 single base substitution G A intron_variant MELA-AU 16 4462496 4462496 single base substitution G A upstream_gene_variant MELA-AU 16 4462634 4462634 single base substitution G A downstream_gene_variant MELA-AU 16 4462634 4462634 single base substitution G A exon_variant MELA-AU 16 4462634 4462634 single base substitution G A intron_variant MELA-AU 16 4462712 4462712 single base substitution G C downstream_gene_variant MELA-AU 16 4462712 4462712 single base substitution G C exon_variant MELA-AU 16 4462712 4462712 single base substitution G C intron_variant MELA-AU 16 4462876 4462876 single base substitution A C downstream_gene_variant MELA-AU 16 4462876 4462876 single base substitution A C exon_variant MELA-AU 16 4462876 4462876 single base substitution A C intron_variant MELA-AU 16 4463368 4463368 single base substitution G A 3_prime_UTR_variant MELA-AU 16 4463368 4463368 single base substitution G A 5_prime_UTR_variant MELA-AU 16 4463368 4463368 single base substitution G A downstream_gene_variant MELA-AU 16 4463368 4463368 single base substitution G A exon_variant MELA-AU 16 4463368 4463368 single base substitution G A intron_variant MELA-AU 16 4463368 4463368 single base substitution G A missense_variant S33L 98C>T MELA-AU 16 4463368 4463368 single base substitution G A missense_variant S46L 137C>T MELA-AU 16 4463368 4463368 single base substitution G A upstream_gene_variant MELA-AU 16 4463487 4463487 single base substitution A T 5_prime_UTR_variant MELA-AU 16 4463487 4463487 single base substitution A T downstream_gene_variant MELA-AU 16 4463487 4463487 single base substitution A T intron_variant MELA-AU 16 4463487 4463487 single base substitution A T upstream_gene_variant MELA-AU 16 4466328 4466328 single base substitution G A downstream_gene_variant MELA-AU 16 4466328 4466328 single base substitution G A intron_variant MELA-AU 16 4466328 4466328 single base substitution G A upstream_gene_variant MELA-AU 16 4466599 4466599 single base substitution C T 5_prime_UTR_variant MELA-AU 16 4466599 4466599 single base substitution C T downstream_gene_variant MELA-AU 16 4466599 4466599 single base substitution C T intron_variant MELA-AU 16 4466599 4466599 single base substitution C T splice_region_variant MELA-AU 16 4466599 4466599 single base substitution C T upstream_gene_variant MELA-AU 16 4466714 4466714 single base substitution C T 5_prime_UTR_variant MELA-AU 16 4466714 4466714 single base substitution C T downstream_gene_variant MELA-AU 16 4466714 4466714 single base substitution C T intron_variant MELA-AU 16 4466714 4466714 single base substitution C T upstream_gene_variant MELA-AU 16 4466889 4466889 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 16 4466889 4466889 single base substitution G A exon_variant MELA-AU 16 4466889 4466889 single base substitution G A upstream_gene_variant MELA-AU 16 4467217 4467217 single base substitution C T intron_variant MELA-AU 16 4467217 4467217 single base substitution C T upstream_gene_variant MELA-AU 16 4467277 4467277 single base substitution G A intron_variant MELA-AU 16 4467277 4467277 single base substitution G A upstream_gene_variant MELA-AU 16 4467428 4467428 single base substitution G A intron_variant MELA-AU 16 4467428 4467428 single base substitution G A upstream_gene_variant MELA-AU 16 4468121 4468121 single base substitution G A intron_variant MELA-AU 16 4468121 4468121 single base substitution G A upstream_gene_variant MELA-AU 16 4468663 4468663 single base substitution A T intron_variant MELA-AU 16 4468663 4468663 single base substitution A T upstream_gene_variant MELA-AU 16 4469476 4469476 single base substitution T C intron_variant MELA-AU 16 4469476 4469476 single base substitution T C upstream_gene_variant MELA-AU 16 4469627 4469627 single base substitution G A intron_variant MELA-AU 16 4469627 4469627 single base substitution G A upstream_gene_variant MELA-AU 16 4469764 4469764 single base substitution G A intron_variant MELA-AU 16 4469764 4469764 single base substitution G A upstream_gene_variant MELA-AU 16 4469833 4469833 single base substitution G A intron_variant MELA-AU 16 4469833 4469833 single base substitution G A upstream_gene_variant MELA-AU 16 4469834 4469834 single base substitution G A intron_variant MELA-AU 16 4469834 4469834 single base substitution G A upstream_gene_variant MELA-AU 16 4469925 4469925 single base substitution C T intron_variant MELA-AU 16 4469925 4469925 single base substitution C T upstream_gene_variant MELA-AU 16 4470591 4470591 single base substitution G A intron_variant MELA-AU 16 4470591 4470591 single base substitution G A upstream_gene_variant MELA-AU 16 4471583 4471583 single base substitution C T intron_variant MELA-AU 16 4471583 4471583 single base substitution C T upstream_gene_variant MELA-AU 16 4472499 4472499 single base substitution G A intron_variant MELA-AU 16 4473216 4473217 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 16 4473246 4473246 single base substitution C T intron_variant MELA-AU 16 4473342 4473342 insertion of <=200bp - T intron_variant MELA-AU 16 4473409 4473409 single base substitution C T intron_variant MELA-AU 16 4473995 4473995 single base substitution C T intron_variant MELA-AU 16 4474206 4474206 single base substitution C T intron_variant MELA-AU 16 4474896 4474896 single base substitution C G intron_variant MELA-AU 16 4475550 4475550 single base substitution G A 5_prime_UTR_variant MELA-AU 16 4475550 4475550 single base substitution G A upstream_gene_variant MELA-AU 16 4475614 4475614 single base substitution C T 5_prime_UTR_variant MELA-AU 16 4475614 4475614 single base substitution C T upstream_gene_variant MELA-AU 16 4475680 4475680 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 16 4475680 4475680 single base substitution G A upstream_gene_variant MELA-AU 16 4475750 4475750 single base substitution G A upstream_gene_variant MELA-AU 16 4475753 4475753 single base substitution G A upstream_gene_variant MELA-AU 16 4475754 4475754 single base substitution G A upstream_gene_variant MELA-AU 16 4475830 4475830 single base substitution C T upstream_gene_variant MELA-AU 16 4475962 4475962 deletion of <=200bp C - upstream_gene_variant MELA-AU 16 4477824 4477824 single base substitution C T upstream_gene_variant MELA-AU 16 4478980 4478981 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 4479381 4479381 single base substitution C T upstream_gene_variant MELA-AU 16 4479601 4479601 single base substitution C T upstream_gene_variant MELA-AU 16 4480328 4480328 single base substitution G A upstream_gene_variant MELA-AU 16 4480439 4480439 single base substitution C T upstream_gene_variant ORCA-IN 16 4402899 4402899 single base substitution C T downstream_gene_variant ORCA-IN 16 4403356 4403356 single base substitution C G downstream_gene_variant ORCA-IN 16 4404159 4404159 single base substitution C G downstream_gene_variant ORCA-IN 16 4407230 4407230 single base substitution C T 3_prime_UTR_variant ORCA-IN 16 4407230 4407230 single base substitution C T downstream_gene_variant ORCA-IN 16 4407230 4407230 single base substitution C T exon_variant ORCA-IN 16 4407230 4407230 single base substitution C T missense_variant R655H 1964G>A ORCA-IN 16 4407230 4407230 single base substitution C T missense_variant R790H 2369G>A ORCA-IN 16 4407230 4407230 single base substitution C T missense_variant R84H 251G>A ORCA-IN 16 4407230 4407230 single base substitution C T missense_variant R857H 2570G>A ORCA-IN 16 4407230 4407230 single base substitution C T missense_variant R875H 2624G>A ORCA-IN 16 4408462 4408462 single base substitution G A 3_prime_UTR_variant ORCA-IN 16 4408462 4408462 single base substitution G A downstream_gene_variant ORCA-IN 16 4408462 4408462 single base substitution G A exon_variant ORCA-IN 16 4408462 4408462 single base substitution G A missense_variant T568M 1703C>T ORCA-IN 16 4408462 4408462 single base substitution G A missense_variant T703M 2108C>T ORCA-IN 16 4408462 4408462 single base substitution G A missense_variant T770M 2309C>T ORCA-IN 16 4408462 4408462 single base substitution G A missense_variant T788M 2363C>T ORCA-IN 16 4408462 4408462 single base substitution G A upstream_gene_variant ORCA-IN 16 4430096 4430096 single base substitution G C intron_variant ORCA-IN 16 4432684 4432684 single base substitution G T intron_variant ORCA-IN 16 4432808 4432808 single base substitution G T downstream_gene_variant ORCA-IN 16 4432808 4432808 single base substitution G T intron_variant ORCA-IN 16 4438106 4438106 single base substitution G A downstream_gene_variant ORCA-IN 16 4438106 4438106 single base substitution G A intron_variant ORCA-IN 16 4455820 4455821 multiple base substitution (>=2bp and <=200bp) TC CA downstream_gene_variant ORCA-IN 16 4455820 4455821 multiple base substitution (>=2bp and <=200bp) TC CA intron_variant ORCA-IN 16 4480158 4480158 deletion of <=200bp T - upstream_gene_variant OV-AU 16 4402158 4402158 single base substitution A T downstream_gene_variant OV-AU 16 4407326 4407326 single base substitution C T downstream_gene_variant OV-AU 16 4407326 4407326 single base substitution C T intron_variant OV-AU 16 4415472 4415472 single base substitution A C intron_variant OV-AU 16 4415472 4415472 single base substitution A C upstream_gene_variant OV-AU 16 4416351 4416351 single base substitution C T intron_variant OV-AU 16 4416351 4416351 single base substitution C T upstream_gene_variant OV-AU 16 4417632 4417632 single base substitution G T intron_variant OV-AU 16 4417632 4417632 single base substitution G T upstream_gene_variant OV-AU 16 4418491 4418491 single base substitution G T intron_variant OV-AU 16 4418491 4418491 single base substitution G T upstream_gene_variant OV-AU 16 4420568 4420568 single base substitution G A intron_variant OV-AU 16 4421100 4421100 single base substitution G A intron_variant OV-AU 16 4424405 4424405 single base substitution T G intron_variant OV-AU 16 4435487 4435487 single base substitution C T downstream_gene_variant OV-AU 16 4435487 4435487 single base substitution C T intron_variant OV-AU 16 4445234 4445234 single base substitution G C downstream_gene_variant OV-AU 16 4445234 4445234 single base substitution G C intron_variant OV-AU 16 4449321 4449321 single base substitution C T intron_variant OV-AU 16 4449321 4449321 single base substitution C T upstream_gene_variant OV-AU 16 4449735 4449735 single base substitution T G intron_variant OV-AU 16 4449735 4449735 single base substitution T G upstream_gene_variant OV-AU 16 4464351 4464351 single base substitution C T downstream_gene_variant OV-AU 16 4464351 4464351 single base substitution C T exon_variant OV-AU 16 4464351 4464351 single base substitution C T intron_variant OV-AU 16 4464351 4464351 single base substitution C T upstream_gene_variant OV-AU 16 4464712 4464712 single base substitution T C downstream_gene_variant OV-AU 16 4464712 4464712 single base substitution T C intron_variant OV-AU 16 4464712 4464712 single base substitution T C upstream_gene_variant OV-AU 16 4465632 4465632 single base substitution G T downstream_gene_variant OV-AU 16 4465632 4465632 single base substitution G T intron_variant OV-AU 16 4465632 4465632 single base substitution G T upstream_gene_variant OV-AU 16 4468267 4468267 single base substitution C G intron_variant OV-AU 16 4468267 4468267 single base substitution C G upstream_gene_variant OV-AU 16 4469018 4469018 single base substitution G A intron_variant OV-AU 16 4469018 4469018 single base substitution G A upstream_gene_variant OV-AU 16 4469572 4469572 single base substitution C A intron_variant OV-AU 16 4469572 4469572 single base substitution C A upstream_gene_variant OV-AU 16 4470334 4470334 single base substitution A G intron_variant OV-AU 16 4470334 4470334 single base substitution A G upstream_gene_variant OV-AU 16 4471389 4471389 single base substitution C G intron_variant OV-AU 16 4471389 4471389 single base substitution C G upstream_gene_variant PACA-AU 16 4413500 4413500 single base substitution G A downstream_gene_variant PACA-AU 16 4413500 4413500 single base substitution G A intron_variant PACA-AU 16 4413500 4413500 single base substitution G A upstream_gene_variant PACA-AU 16 4415034 4415034 single base substitution C A 3_prime_UTR_variant PACA-AU 16 4415034 4415034 single base substitution C A exon_variant PACA-AU 16 4415034 4415034 single base substitution C A intron_variant PACA-AU 16 4415034 4415034 single base substitution C A missense_variant V122L 364G>T PACA-AU 16 4415034 4415034 single base substitution C A missense_variant V135L 403G>T PACA-AU 16 4415034 4415034 single base substitution C A missense_variant V205L 613G>T PACA-AU 16 4415034 4415034 single base substitution C A missense_variant V272L 814G>T PACA-AU 16 4415034 4415034 single base substitution C A missense_variant V290L 868G>T PACA-AU 16 4415034 4415034 single base substitution C A missense_variant V70L 208G>T PACA-AU 16 4415034 4415034 single base substitution C A upstream_gene_variant PACA-AU 16 4419839 4419839 single base substitution A T intron_variant PACA-AU 16 4424784 4424784 single base substitution G C intron_variant PACA-AU 16 4424926 4424926 single base substitution G A intron_variant PACA-AU 16 4426180 4426181 deletion of <=200bp CC - intron_variant PACA-AU 16 4429137 4429137 single base substitution G A intron_variant PACA-AU 16 4431389 4431391 deletion of <=200bp CTG - intron_variant PACA-AU 16 4434631 4434631 single base substitution C T downstream_gene_variant PACA-AU 16 4434631 4434631 single base substitution C T intron_variant PACA-AU 16 4435959 4435959 single base substitution G A downstream_gene_variant PACA-AU 16 4435959 4435959 single base substitution G A intron_variant PACA-AU 16 4436162 4436162 single base substitution G T downstream_gene_variant PACA-AU 16 4436162 4436162 single base substitution G T intron_variant PACA-AU 16 4438745 4438745 single base substitution C T intron_variant PACA-AU 16 4449217 4449217 single base substitution C T intron_variant PACA-AU 16 4449217 4449217 single base substitution C T upstream_gene_variant PACA-AU 16 4450281 4450281 single base substitution C T intron_variant PACA-AU 16 4450281 4450281 single base substitution C T upstream_gene_variant PACA-AU 16 4454354 4454354 single base substitution C T downstream_gene_variant PACA-AU 16 4454354 4454354 single base substitution C T intron_variant PACA-AU 16 4456971 4456971 single base substitution C T downstream_gene_variant PACA-AU 16 4456971 4456971 single base substitution C T intron_variant PACA-AU 16 4461559 4461559 single base substitution T A downstream_gene_variant PACA-AU 16 4461559 4461559 single base substitution T A intron_variant PACA-AU 16 4461559 4461559 single base substitution T A upstream_gene_variant PACA-AU 16 4474109 4474109 single base substitution G A intron_variant PACA-AU 16 4474279 4474279 single base substitution T C intron_variant PACA-AU 16 4474521 4474521 single base substitution G A intron_variant PACA-AU 16 4479456 4479456 single base substitution C T upstream_gene_variant PACA-AU 16 4480158 4480158 deletion of <=200bp T - upstream_gene_variant PACA-CA 16 4406115 4406115 single base substitution C T downstream_gene_variant PACA-CA 16 4406115 4406115 single base substitution C T intron_variant PACA-CA 16 4407107 4407107 single base substitution G A downstream_gene_variant PACA-CA 16 4407107 4407107 single base substitution G A exon_variant PACA-CA 16 4407107 4407107 single base substitution G A intron_variant PACA-CA 16 4413297 4413298 deletion of <=200bp GT - downstream_gene_variant PACA-CA 16 4413297 4413298 deletion of <=200bp GT - intron_variant PACA-CA 16 4413297 4413298 deletion of <=200bp GT - upstream_gene_variant PACA-CA 16 4413472 4413472 single base substitution C A downstream_gene_variant PACA-CA 16 4413472 4413472 single base substitution C A intron_variant PACA-CA 16 4413472 4413472 single base substitution C A upstream_gene_variant PACA-CA 16 4414526 4414526 single base substitution G A downstream_gene_variant PACA-CA 16 4414526 4414526 single base substitution G A exon_variant PACA-CA 16 4414526 4414526 single base substitution G A intron_variant PACA-CA 16 4414526 4414526 single base substitution G A upstream_gene_variant PACA-CA 16 4415429 4415429 single base substitution G A intron_variant PACA-CA 16 4415429 4415429 single base substitution G A upstream_gene_variant PACA-CA 16 4417306 4417306 single base substitution G A intron_variant PACA-CA 16 4417306 4417306 single base substitution G A upstream_gene_variant PACA-CA 16 4420865 4420865 single base substitution C T intron_variant PACA-CA 16 4423889 4423889 single base substitution A C intron_variant PACA-CA 16 4427225 4427225 single base substitution C T intron_variant PACA-CA 16 4427823 4427823 single base substitution G A intron_variant PACA-CA 16 4429116 4429116 single base substitution C T intron_variant PACA-CA 16 4431360 4431360 single base substitution G A intron_variant PACA-CA 16 4439492 4439492 single base substitution A C intron_variant PACA-CA 16 4442853 4442853 single base substitution C G downstream_gene_variant PACA-CA 16 4442853 4442853 single base substitution C G intron_variant PACA-CA 16 4443630 4443630 single base substitution G A downstream_gene_variant PACA-CA 16 4443630 4443630 single base substitution G A intron_variant PACA-CA 16 4444527 4444527 single base substitution C T downstream_gene_variant PACA-CA 16 4444527 4444527 single base substitution C T intron_variant PACA-CA 16 4449447 4449447 single base substitution G A intron_variant PACA-CA 16 4449447 4449447 single base substitution G A upstream_gene_variant PACA-CA 16 4451197 4451197 single base substitution G T downstream_gene_variant PACA-CA 16 4451197 4451197 single base substitution G T intron_variant PACA-CA 16 4452242 4452242 insertion of <=200bp - TTG downstream_gene_variant PACA-CA 16 4452242 4452242 insertion of <=200bp - TTG intron_variant PACA-CA 16 4454084 4454084 single base substitution A C downstream_gene_variant PACA-CA 16 4454084 4454084 single base substitution A C intron_variant PACA-CA 16 4458430 4458430 deletion of <=200bp C - intron_variant PACA-CA 16 4458430 4458430 deletion of <=200bp C - upstream_gene_variant PACA-CA 16 4465678 4465678 single base substitution C G downstream_gene_variant PACA-CA 16 4465678 4465678 single base substitution C G intron_variant PACA-CA 16 4465678 4465678 single base substitution C G upstream_gene_variant PACA-CA 16 4466956 4466956 single base substitution C T 5_prime_UTR_variant PACA-CA 16 4466956 4466956 single base substitution C T exon_variant PACA-CA 16 4466956 4466956 single base substitution C T upstream_gene_variant PACA-CA 16 4468713 4468713 single base substitution C T intron_variant PACA-CA 16 4468713 4468713 single base substitution C T upstream_gene_variant PACA-CA 16 4474893 4474893 single base substitution T A intron_variant PACA-CA 16 4476537 4476537 single base substitution T G upstream_gene_variant PACA-CA 16 4480342 4480342 deletion of <=200bp C - upstream_gene_variant PAEN-AU 16 4446640 4446640 single base substitution T C intron_variant PAEN-AU 16 4446640 4446640 single base substitution T C upstream_gene_variant PAEN-AU 16 4466654 4466654 single base substitution C T 5_prime_UTR_variant PAEN-AU 16 4466654 4466654 single base substitution C T downstream_gene_variant PAEN-AU 16 4466654 4466654 single base substitution C T intron_variant PAEN-AU 16 4466654 4466654 single base substitution C T upstream_gene_variant PAEN-AU 16 4472893 4472893 single base substitution A G intron_variant PBCA-DE 16 4401483 4401483 single base substitution A G downstream_gene_variant PBCA-DE 16 4416519 4416519 single base substitution C T intron_variant PBCA-DE 16 4416519 4416519 single base substitution C T upstream_gene_variant PBCA-DE 16 4417435 4417435 single base substitution C T intron_variant PBCA-DE 16 4417435 4417435 single base substitution C T upstream_gene_variant PBCA-DE 16 4425551 4425551 insertion of <=200bp - C intron_variant PBCA-DE 16 4429004 4429004 single base substitution C T intron_variant PBCA-DE 16 4434400 4434400 single base substitution G A downstream_gene_variant PBCA-DE 16 4434400 4434400 single base substitution G A intron_variant PBCA-DE 16 4444564 4444564 single base substitution C T downstream_gene_variant PBCA-DE 16 4444564 4444564 single base substitution C T intron_variant PBCA-DE 16 4452009 4452009 single base substitution G C downstream_gene_variant PBCA-DE 16 4452009 4452009 single base substitution G C intron_variant PBCA-DE 16 4464091 4464091 single base substitution C T downstream_gene_variant PBCA-DE 16 4464091 4464091 single base substitution C T intron_variant PBCA-DE 16 4464091 4464091 single base substitution C T upstream_gene_variant PBCA-DE 16 4465798 4465798 single base substitution C G 5_prime_UTR_variant PBCA-DE 16 4465798 4465798 single base substitution C G downstream_gene_variant PBCA-DE 16 4465798 4465798 single base substitution C G exon_variant PBCA-DE 16 4465798 4465798 single base substitution C G intron_variant PBCA-DE 16 4465798 4465798 single base substitution C G upstream_gene_variant PBCA-DE 16 4466412 4466412 single base substitution C T downstream_gene_variant PBCA-DE 16 4466412 4466412 single base substitution C T intron_variant PBCA-DE 16 4466412 4466412 single base substitution C T upstream_gene_variant PBCA-DE 16 4471597 4471597 single base substitution G A intron_variant PBCA-DE 16 4471597 4471597 single base substitution G A upstream_gene_variant PBCA-DE 16 4476178 4476178 single base substitution T G upstream_gene_variant PBCA-DE 16 4476241 4476241 single base substitution G A upstream_gene_variant PRAD-CA 16 4399901 4399901 single base substitution G T downstream_gene_variant PRAD-CA 16 4407001 4407001 single base substitution T C downstream_gene_variant PRAD-CA 16 4407001 4407001 single base substitution T C exon_variant PRAD-CA 16 4407001 4407001 single base substitution T C intron_variant PRAD-CA 16 4419117 4419117 single base substitution C G intron_variant PRAD-CA 16 4419117 4419117 single base substitution C G upstream_gene_variant PRAD-CA 16 4428235 4428235 single base substitution G A intron_variant PRAD-CA 16 4428884 4428884 single base substitution G A intron_variant PRAD-CA 16 4429501 4429501 single base substitution G A intron_variant PRAD-CA 16 4440949 4440949 single base substitution G A downstream_gene_variant PRAD-CA 16 4440949 4440949 single base substitution G A intron_variant PRAD-CA 16 4441880 4441880 single base substitution A G downstream_gene_variant PRAD-CA 16 4441880 4441880 single base substitution A G intron_variant PRAD-CA 16 4450502 4450502 single base substitution C T downstream_gene_variant PRAD-CA 16 4450502 4450502 single base substitution C T intron_variant PRAD-CA 16 4458781 4458781 single base substitution C T intron_variant PRAD-CA 16 4458781 4458781 single base substitution C T upstream_gene_variant PRAD-CA 16 4467902 4467902 single base substitution T C intron_variant PRAD-CA 16 4467902 4467902 single base substitution T C upstream_gene_variant PRAD-CA 16 4479716 4479716 single base substitution A G upstream_gene_variant PRAD-UK 16 4420231 4420231 single base substitution G A intron_variant PRAD-UK 16 4423116 4423116 deletion of <=200bp A - intron_variant PRAD-UK 16 4444932 4444932 single base substitution T C downstream_gene_variant PRAD-UK 16 4444932 4444932 single base substitution T C intron_variant PRAD-UK 16 4450793 4450793 single base substitution C A downstream_gene_variant PRAD-UK 16 4450793 4450793 single base substitution C A intron_variant PRAD-UK 16 4469712 4469712 single base substitution C T intron_variant PRAD-UK 16 4469712 4469712 single base substitution C T upstream_gene_variant READ-US 16 4411003 4411003 single base substitution G T 3_prime_UTR_variant READ-US 16 4411003 4411003 single base substitution G T downstream_gene_variant READ-US 16 4411003 4411003 single base substitution G T exon_variant READ-US 16 4411003 4411003 single base substitution G T missense_variant R400S 1198C>A READ-US 16 4411003 4411003 single base substitution G T missense_variant R535S 1603C>A READ-US 16 4411003 4411003 single base substitution G T missense_variant R602S 1804C>A READ-US 16 4411003 4411003 single base substitution G T missense_variant R620S 1858C>A READ-US 16 4411003 4411003 single base substitution G T upstream_gene_variant READ-US 16 4432065 4432065 single base substitution C A intron_variant READ-US 16 4455502 4455502 single base substitution G A 3_prime_UTR_variant READ-US 16 4455502 4455502 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant READ-US 16 4455502 4455502 single base substitution G A downstream_gene_variant READ-US 16 4455502 4455502 single base substitution G A exon_variant READ-US 16 4455502 4455502 single base substitution G A intron_variant READ-US 16 4455502 4455502 single base substitution G A missense_variant R165W 493C>T READ-US 16 4455502 4455502 single base substitution G A missense_variant R19W 55C>T READ-US 16 4455502 4455502 single base substitution G A missense_variant T100M 299C>T READ-US 16 4455502 4455502 single base substitution G A missense_variant T167M 500C>T READ-US 16 4455502 4455502 single base substitution G A missense_variant T185M 554C>T READ-US 16 4455502 4455502 single base substitution G A missense_variant T198M 593C>T RECA-EU 16 4405590 4405590 single base substitution C T downstream_gene_variant RECA-EU 16 4405590 4405590 single base substitution C T intron_variant RECA-EU 16 4409583 4409583 single base substitution G C 3_prime_UTR_variant RECA-EU 16 4409583 4409583 single base substitution G C downstream_gene_variant RECA-EU 16 4409583 4409583 single base substitution G C exon_variant RECA-EU 16 4409583 4409583 single base substitution G C synonymous_variant A496A 1488C>G RECA-EU 16 4409583 4409583 single base substitution G C synonymous_variant A631A 1893C>G RECA-EU 16 4409583 4409583 single base substitution G C synonymous_variant A698A 2094C>G RECA-EU 16 4409583 4409583 single base substitution G C synonymous_variant A716A 2148C>G RECA-EU 16 4409583 4409583 single base substitution G C upstream_gene_variant RECA-EU 16 4410123 4410123 single base substitution C T downstream_gene_variant RECA-EU 16 4410123 4410123 single base substitution C T intron_variant RECA-EU 16 4410123 4410123 single base substitution C T upstream_gene_variant RECA-EU 16 4412210 4412210 single base substitution C A downstream_gene_variant RECA-EU 16 4412210 4412210 single base substitution C A intron_variant RECA-EU 16 4412210 4412210 single base substitution C A upstream_gene_variant RECA-EU 16 4412647 4412647 single base substitution G T 3_prime_UTR_variant RECA-EU 16 4412647 4412647 single base substitution G T downstream_gene_variant RECA-EU 16 4412647 4412647 single base substitution G T exon_variant RECA-EU 16 4412647 4412647 single base substitution G T intron_variant RECA-EU 16 4412647 4412647 single base substitution G T synonymous_variant T236T 708C>A RECA-EU 16 4412647 4412647 single base substitution G T synonymous_variant T288T 864C>A RECA-EU 16 4412647 4412647 single base substitution G T synonymous_variant T371T 1113C>A RECA-EU 16 4412647 4412647 single base substitution G T synonymous_variant T438T 1314C>A RECA-EU 16 4412647 4412647 single base substitution G T synonymous_variant T456T 1368C>A RECA-EU 16 4412647 4412647 single base substitution G T upstream_gene_variant RECA-EU 16 4417658 4417658 single base substitution A G intron_variant RECA-EU 16 4417658 4417658 single base substitution A G upstream_gene_variant RECA-EU 16 4447028 4447028 single base substitution A G intron_variant RECA-EU 16 4447028 4447028 single base substitution A G upstream_gene_variant SKCA-BR 16 4400311 4400311 insertion of <=200bp - GTA downstream_gene_variant SKCA-BR 16 4401081 4401081 single base substitution T C downstream_gene_variant SKCA-BR 16 4401127 4401127 single base substitution A G downstream_gene_variant SKCA-BR 16 4401323 4401323 single base substitution G A downstream_gene_variant SKCA-BR 16 4402816 4402816 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 16 4408312 4408312 single base substitution C T downstream_gene_variant SKCA-BR 16 4408312 4408312 single base substitution C T exon_variant SKCA-BR 16 4408312 4408312 single base substitution C T intron_variant SKCA-BR 16 4408313 4408313 single base substitution C T downstream_gene_variant SKCA-BR 16 4408313 4408313 single base substitution C T exon_variant SKCA-BR 16 4408313 4408313 single base substitution C T intron_variant SKCA-BR 16 4410867 4410889 deletion of <=200bp TCACTGCTGGCCCCACCTCTCCA - downstream_gene_variant SKCA-BR 16 4410867 4410889 deletion of <=200bp TCACTGCTGGCCCCACCTCTCCA - intron_variant SKCA-BR 16 4410867 4410889 deletion of <=200bp TCACTGCTGGCCCCACCTCTCCA - upstream_gene_variant SKCA-BR 16 4411844 4411844 single base substitution T G 3_prime_UTR_variant SKCA-BR 16 4411844 4411844 single base substitution T G downstream_gene_variant SKCA-BR 16 4411844 4411844 single base substitution T G exon_variant SKCA-BR 16 4411844 4411844 single base substitution T G intron_variant SKCA-BR 16 4411844 4411844 single base substitution T G upstream_gene_variant SKCA-BR 16 4411852 4411852 single base substitution A G 3_prime_UTR_variant SKCA-BR 16 4411852 4411852 single base substitution A G downstream_gene_variant SKCA-BR 16 4411852 4411852 single base substitution A G exon_variant SKCA-BR 16 4411852 4411852 single base substitution A G intron_variant SKCA-BR 16 4411852 4411852 single base substitution A G upstream_gene_variant SKCA-BR 16 4412029 4412029 single base substitution G A 3_prime_UTR_variant SKCA-BR 16 4412029 4412029 single base substitution G A downstream_gene_variant SKCA-BR 16 4412029 4412029 single base substitution G A exon_variant SKCA-BR 16 4412029 4412029 single base substitution G A missense_variant A292V 875C>T SKCA-BR 16 4412029 4412029 single base substitution G A missense_variant A344V 1031C>T SKCA-BR 16 4412029 4412029 single base substitution G A missense_variant A427V 1280C>T SKCA-BR 16 4412029 4412029 single base substitution G A missense_variant A494V 1481C>T SKCA-BR 16 4412029 4412029 single base substitution G A missense_variant A512V 1535C>T SKCA-BR 16 4412029 4412029 single base substitution G A upstream_gene_variant SKCA-BR 16 4417100 4417100 single base substitution A G intron_variant SKCA-BR 16 4417100 4417100 single base substitution A G upstream_gene_variant SKCA-BR 16 4417719 4417719 single base substitution T G intron_variant SKCA-BR 16 4417719 4417719 single base substitution T G upstream_gene_variant SKCA-BR 16 4419463 4419463 single base substitution G A intron_variant SKCA-BR 16 4419463 4419463 single base substitution G A upstream_gene_variant SKCA-BR 16 4422065 4422065 single base substitution G A intron_variant SKCA-BR 16 4422167 4422167 single base substitution T C intron_variant SKCA-BR 16 4424187 4424187 single base substitution T G intron_variant SKCA-BR 16 4424197 4424197 single base substitution T G intron_variant SKCA-BR 16 4425907 4425907 single base substitution A G intron_variant SKCA-BR 16 4426079 4426079 single base substitution A G intron_variant SKCA-BR 16 4428460 4428460 single base substitution A C intron_variant SKCA-BR 16 4429226 4429226 single base substitution C T intron_variant SKCA-BR 16 4431738 4431738 single base substitution T C intron_variant SKCA-BR 16 4432543 4432543 single base substitution A C intron_variant SKCA-BR 16 4433178 4433178 single base substitution G T downstream_gene_variant SKCA-BR 16 4433178 4433178 single base substitution G T intron_variant SKCA-BR 16 4434977 4434977 insertion of <=200bp - CG downstream_gene_variant SKCA-BR 16 4434977 4434977 insertion of <=200bp - CG intron_variant SKCA-BR 16 4435665 4435665 single base substitution C T downstream_gene_variant SKCA-BR 16 4435665 4435665 single base substitution C T intron_variant SKCA-BR 16 4440739 4440739 single base substitution G A downstream_gene_variant SKCA-BR 16 4440739 4440739 single base substitution G A intron_variant SKCA-BR 16 4441923 4441923 single base substitution T G downstream_gene_variant SKCA-BR 16 4441923 4441923 single base substitution T G intron_variant SKCA-BR 16 4442296 4442296 single base substitution A G downstream_gene_variant SKCA-BR 16 4442296 4442296 single base substitution A G intron_variant SKCA-BR 16 4443532 4443532 single base substitution G T downstream_gene_variant SKCA-BR 16 4443532 4443532 single base substitution G T intron_variant SKCA-BR 16 4443660 4443660 single base substitution G A downstream_gene_variant SKCA-BR 16 4443660 4443660 single base substitution G A intron_variant SKCA-BR 16 4447807 4447807 single base substitution G A intron_variant SKCA-BR 16 4447807 4447807 single base substitution G A upstream_gene_variant SKCA-BR 16 4448203 4448203 single base substitution G A intron_variant SKCA-BR 16 4448203 4448203 single base substitution G A upstream_gene_variant SKCA-BR 16 4449675 4449675 single base substitution G T intron_variant SKCA-BR 16 4449675 4449675 single base substitution G T upstream_gene_variant SKCA-BR 16 4450300 4450300 single base substitution G A intron_variant SKCA-BR 16 4450300 4450300 single base substitution G A upstream_gene_variant SKCA-BR 16 4453352 4453352 single base substitution G C downstream_gene_variant SKCA-BR 16 4453352 4453352 single base substitution G C intron_variant SKCA-BR 16 4453414 4453414 single base substitution G A downstream_gene_variant SKCA-BR 16 4453414 4453414 single base substitution G A intron_variant SKCA-BR 16 4457315 4457315 single base substitution G A downstream_gene_variant SKCA-BR 16 4457315 4457315 single base substitution G A intron_variant SKCA-BR 16 4459105 4459105 single base substitution T G intron_variant SKCA-BR 16 4459105 4459105 single base substitution T G upstream_gene_variant SKCA-BR 16 4463256 4463256 single base substitution G A downstream_gene_variant SKCA-BR 16 4463256 4463256 single base substitution G A intron_variant SKCA-BR 16 4463256 4463256 single base substitution G A upstream_gene_variant SKCA-BR 16 4463947 4463947 single base substitution G A downstream_gene_variant SKCA-BR 16 4463947 4463947 single base substitution G A intron_variant SKCA-BR 16 4463947 4463947 single base substitution G A upstream_gene_variant SKCA-BR 16 4466770 4466770 single base substitution G A 5_prime_UTR_variant SKCA-BR 16 4466770 4466770 single base substitution G A exon_variant SKCA-BR 16 4466770 4466770 single base substitution G A intron_variant SKCA-BR 16 4466770 4466770 single base substitution G A upstream_gene_variant SKCA-BR 16 4466771 4466771 single base substitution G A 5_prime_UTR_variant SKCA-BR 16 4466771 4466771 single base substitution G A exon_variant SKCA-BR 16 4466771 4466771 single base substitution G A intron_variant SKCA-BR 16 4466771 4466771 single base substitution G A upstream_gene_variant SKCA-BR 16 4468593 4468593 single base substitution T G intron_variant SKCA-BR 16 4468593 4468593 single base substitution T G upstream_gene_variant SKCA-BR 16 4468644 4468644 single base substitution G A intron_variant SKCA-BR 16 4468644 4468644 single base substitution G A upstream_gene_variant SKCA-BR 16 4473081 4473081 single base substitution C A intron_variant SKCA-BR 16 4473114 4473114 single base substitution A G intron_variant SKCA-BR 16 4473400 4473400 single base substitution T A intron_variant SKCA-BR 16 4475754 4475754 single base substitution G A upstream_gene_variant SKCA-BR 16 4477795 4477795 single base substitution G T upstream_gene_variant SKCM-US 16 4407228 4407228 single base substitution G A 3_prime_UTR_variant SKCM-US 16 4407228 4407228 single base substitution G A downstream_gene_variant SKCM-US 16 4407228 4407228 single base substitution G A exon_variant SKCM-US 16 4407228 4407228 single base substitution G A missense_variant R656W 1966C>T SKCM-US 16 4407228 4407228 single base substitution G A missense_variant R791W 2371C>T SKCM-US 16 4407228 4407228 single base substitution G A missense_variant R858W 2572C>T SKCM-US 16 4407228 4407228 single base substitution G A missense_variant R85W 253C>T SKCM-US 16 4407228 4407228 single base substitution G A missense_variant R876W 2626C>T SKCM-US 16 4408059 4408059 single base substitution A T 3_prime_UTR_variant SKCM-US 16 4408059 4408059 single base substitution A T downstream_gene_variant SKCM-US 16 4408059 4408059 single base substitution A T exon_variant SKCM-US 16 4408059 4408059 single base substitution A T intron_variant SKCM-US 16 4408059 4408059 single base substitution A T missense_variant W44R 130T>A SKCM-US 16 4408059 4408059 single base substitution A T missense_variant W615R 1843T>A SKCM-US 16 4408059 4408059 single base substitution A T missense_variant W750R 2248T>A SKCM-US 16 4408059 4408059 single base substitution A T missense_variant W817R 2449T>A SKCM-US 16 4408059 4408059 single base substitution A T missense_variant W835R 2503T>A SKCM-US 16 4408077 4408077 single base substitution G A 3_prime_UTR_variant SKCM-US 16 4408077 4408077 single base substitution G A downstream_gene_variant SKCM-US 16 4408077 4408077 single base substitution G A exon_variant SKCM-US 16 4408077 4408077 single base substitution G A intron_variant SKCM-US 16 4408077 4408077 single base substitution G A missense_variant P38S 112C>T SKCM-US 16 4408077 4408077 single base substitution G A missense_variant P609S 1825C>T SKCM-US 16 4408077 4408077 single base substitution G A missense_variant P744S 2230C>T SKCM-US 16 4408077 4408077 single base substitution G A missense_variant P811S 2431C>T SKCM-US 16 4408077 4408077 single base substitution G A missense_variant P829S 2485C>T SKCM-US 16 4409336 4409336 single base substitution G A 3_prime_UTR_variant SKCM-US 16 4409336 4409336 single base substitution G A downstream_gene_variant SKCM-US 16 4409336 4409336 single base substitution G A exon_variant SKCM-US 16 4409336 4409336 single base substitution G A synonymous_variant F547F 1641C>T SKCM-US 16 4409336 4409336 single base substitution G A synonymous_variant F682F 2046C>T SKCM-US 16 4409336 4409336 single base substitution G A synonymous_variant F749F 2247C>T SKCM-US 16 4409336 4409336 single base substitution G A synonymous_variant F767F 2301C>T SKCM-US 16 4409336 4409336 single base substitution G A upstream_gene_variant SKCM-US 16 4409354 4409354 single base substitution G A 3_prime_UTR_variant SKCM-US 16 4409354 4409354 single base substitution G A downstream_gene_variant SKCM-US 16 4409354 4409354 single base substitution G A exon_variant SKCM-US 16 4409354 4409354 single base substitution G A synonymous_variant L541L 1623C>T SKCM-US 16 4409354 4409354 single base substitution G A synonymous_variant L676L 2028C>T SKCM-US 16 4409354 4409354 single base substitution G A synonymous_variant L743L 2229C>T SKCM-US 16 4409354 4409354 single base substitution G A synonymous_variant L761L 2283C>T SKCM-US 16 4409354 4409354 single base substitution G A upstream_gene_variant SKCM-US 16 4411374 4411374 single base substitution G A 3_prime_UTR_variant SKCM-US 16 4411374 4411374 single base substitution G A downstream_gene_variant SKCM-US 16 4411374 4411374 single base substitution G A exon_variant SKCM-US 16 4411374 4411374 single base substitution G A missense_variant R339C 1015C>T SKCM-US 16 4411374 4411374 single base substitution G A missense_variant R474C 1420C>T SKCM-US 16 4411374 4411374 single base substitution G A missense_variant R541C 1621C>T SKCM-US 16 4411374 4411374 single base substitution G A missense_variant R559C 1675C>T SKCM-US 16 4411374 4411374 single base substitution G A upstream_gene_variant SKCM-US 16 4411379 4411379 single base substitution G A 3_prime_UTR_variant SKCM-US 16 4411379 4411379 single base substitution G A downstream_gene_variant SKCM-US 16 4411379 4411379 single base substitution G A exon_variant SKCM-US 16 4411379 4411379 single base substitution G A missense_variant P337L 1010C>T SKCM-US 16 4411379 4411379 single base substitution G A missense_variant P472L 1415C>T SKCM-US 16 4411379 4411379 single base substitution G A missense_variant P539L 1616C>T SKCM-US 16 4411379 4411379 single base substitution G A missense_variant P557L 1670C>T SKCM-US 16 4411379 4411379 single base substitution G A upstream_gene_variant SKCM-US 16 4412714 4412714 single base substitution G A 3_prime_UTR_variant SKCM-US 16 4412714 4412714 single base substitution G A downstream_gene_variant SKCM-US 16 4412714 4412714 single base substitution G A exon_variant SKCM-US 16 4412714 4412714 single base substitution G A intron_variant SKCM-US 16 4412714 4412714 single base substitution G A missense_variant S214L 641C>T SKCM-US 16 4412714 4412714 single base substitution G A missense_variant S266L 797C>T SKCM-US 16 4412714 4412714 single base substitution G A missense_variant S349L 1046C>T SKCM-US 16 4412714 4412714 single base substitution G A missense_variant S416L 1247C>T SKCM-US 16 4412714 4412714 single base substitution G A missense_variant S434L 1301C>T SKCM-US 16 4412714 4412714 single base substitution G A upstream_gene_variant SKCM-US 16 4412724 4412724 single base substitution G A 3_prime_UTR_variant SKCM-US 16 4412724 4412724 single base substitution G A downstream_gene_variant SKCM-US 16 4412724 4412724 single base substitution G A exon_variant SKCM-US 16 4412724 4412724 single base substitution G A intron_variant SKCM-US 16 4412724 4412724 single base substitution G A missense_variant P211S 631C>T SKCM-US 16 4412724 4412724 single base substitution G A missense_variant P263S 787C>T SKCM-US 16 4412724 4412724 single base substitution G A missense_variant P346S 1036C>T SKCM-US 16 4412724 4412724 single base substitution G A missense_variant P413S 1237C>T SKCM-US 16 4412724 4412724 single base substitution G A missense_variant P431S 1291C>T SKCM-US 16 4412724 4412724 single base substitution G A upstream_gene_variant SKCM-US 16 4412725 4412725 single base substitution G A 3_prime_UTR_variant SKCM-US 16 4412725 4412725 single base substitution G A downstream_gene_variant SKCM-US 16 4412725 4412725 single base substitution G A exon_variant SKCM-US 16 4412725 4412725 single base substitution G A intron_variant SKCM-US 16 4412725 4412725 single base substitution G A synonymous_variant S210S 630C>T SKCM-US 16 4412725 4412725 single base substitution G A synonymous_variant S262S 786C>T SKCM-US 16 4412725 4412725 single base substitution G A synonymous_variant S345S 1035C>T SKCM-US 16 4412725 4412725 single base substitution G A synonymous_variant S412S 1236C>T SKCM-US 16 4412725 4412725 single base substitution G A synonymous_variant S430S 1290C>T SKCM-US 16 4412725 4412725 single base substitution G A upstream_gene_variant SKCM-US 16 4412726 4412726 single base substitution G A 3_prime_UTR_variant SKCM-US 16 4412726 4412726 single base substitution G A downstream_gene_variant SKCM-US 16 4412726 4412726 single base substitution G A exon_variant SKCM-US 16 4412726 4412726 single base substitution G A intron_variant SKCM-US 16 4412726 4412726 single base substitution G A missense_variant S210F 629C>T SKCM-US 16 4412726 4412726 single base substitution G A missense_variant S262F 785C>T SKCM-US 16 4412726 4412726 single base substitution G A missense_variant S345F 1034C>T SKCM-US 16 4412726 4412726 single base substitution G A missense_variant S412F 1235C>T SKCM-US 16 4412726 4412726 single base substitution G A missense_variant S430F 1289C>T SKCM-US 16 4412726 4412726 single base substitution G A upstream_gene_variant SKCM-US 16 4414375 4414375 single base substitution G A 3_prime_UTR_variant SKCM-US 16 4414375 4414375 single base substitution G A downstream_gene_variant SKCM-US 16 4414375 4414375 single base substitution G A exon_variant SKCM-US 16 4414375 4414375 single base substitution G A intron_variant SKCM-US 16 4414375 4414375 single base substitution G A missense_variant P173S 517C>T SKCM-US 16 4414375 4414375 single base substitution G A missense_variant P225S 673C>T SKCM-US 16 4414375 4414375 single base substitution G A missense_variant P308S 922C>T SKCM-US 16 4414375 4414375 single base substitution G A missense_variant P375S 1123C>T SKCM-US 16 4414375 4414375 single base substitution G A missense_variant P393S 1177C>T SKCM-US 16 4414375 4414375 single base substitution G A upstream_gene_variant SKCM-US 16 4414791 4414791 single base substitution G A 3_prime_UTR_variant SKCM-US 16 4414791 4414791 single base substitution G A downstream_gene_variant SKCM-US 16 4414791 4414791 single base substitution G A exon_variant SKCM-US 16 4414791 4414791 single base substitution G A intron_variant SKCM-US 16 4414791 4414791 single base substitution G A synonymous_variant Y123Y 369C>T SKCM-US 16 4414791 4414791 single base substitution G A synonymous_variant Y175Y 525C>T SKCM-US 16 4414791 4414791 single base substitution G A synonymous_variant Y188Y 564C>T SKCM-US 16 4414791 4414791 single base substitution G A synonymous_variant Y258Y 774C>T SKCM-US 16 4414791 4414791 single base substitution G A synonymous_variant Y325Y 975C>T SKCM-US 16 4414791 4414791 single base substitution G A synonymous_variant Y343Y 1029C>T SKCM-US 16 4414791 4414791 single base substitution G A upstream_gene_variant SKCM-US 16 4431025 4431025 single base substitution C T intron_variant SKCM-US 16 4431310 4431310 single base substitution C T intron_variant SKCM-US 16 4431686 4431686 single base substitution G A intron_variant SKCM-US 16 4431850 4431850 single base substitution G A intron_variant SKCM-US 16 4432028 4432028 single base substitution G A intron_variant SKCM-US 16 4463325 4463325 single base substitution G A 3_prime_UTR_variant SKCM-US 16 4463325 4463325 single base substitution G A 5_prime_UTR_variant SKCM-US 16 4463325 4463325 single base substitution G A downstream_gene_variant SKCM-US 16 4463325 4463325 single base substitution G A exon_variant SKCM-US 16 4463325 4463325 single base substitution G A intron_variant SKCM-US 16 4463325 4463325 single base substitution G A synonymous_variant F47F 141C>T SKCM-US 16 4463325 4463325 single base substitution G A synonymous_variant F60F 180C>T SKCM-US 16 4463325 4463325 single base substitution G A upstream_gene_variant SKCM-US 16 4475962 4475962 deletion of <=200bp C - upstream_gene_variant SKCM-US 16 4476020 4476020 single base substitution C T upstream_gene_variant STAD-US 16 4408008 4408008 single base substitution G A 3_prime_UTR_variant STAD-US 16 4408008 4408008 single base substitution G A downstream_gene_variant STAD-US 16 4408008 4408008 single base substitution G A exon_variant STAD-US 16 4408008 4408008 single base substitution G A intron_variant STAD-US 16 4408008 4408008 single base substitution G A missense_variant P61S 181C>T STAD-US 16 4408008 4408008 single base substitution G A missense_variant P632S 1894C>T STAD-US 16 4408008 4408008 single base substitution G A missense_variant P767S 2299C>T STAD-US 16 4408008 4408008 single base substitution G A missense_variant P834S 2500C>T STAD-US 16 4408008 4408008 single base substitution G A missense_variant P852S 2554C>T STAD-US 16 4409528 4409528 single base substitution G T 3_prime_UTR_variant STAD-US 16 4409528 4409528 single base substitution G T downstream_gene_variant STAD-US 16 4409528 4409528 single base substitution G T exon_variant STAD-US 16 4409528 4409528 single base substitution G T missense_variant L515M 1543C>A STAD-US 16 4409528 4409528 single base substitution G T missense_variant L650M 1948C>A STAD-US 16 4409528 4409528 single base substitution G T missense_variant L717M 2149C>A STAD-US 16 4409528 4409528 single base substitution G T missense_variant L735M 2203C>A STAD-US 16 4409528 4409528 single base substitution G T upstream_gene_variant STAD-US 16 4409546 4409546 single base substitution C T 3_prime_UTR_variant STAD-US 16 4409546 4409546 single base substitution C T downstream_gene_variant STAD-US 16 4409546 4409546 single base substitution C T exon_variant STAD-US 16 4409546 4409546 single base substitution C T missense_variant V509M 1525G>A STAD-US 16 4409546 4409546 single base substitution C T missense_variant V644M 1930G>A STAD-US 16 4409546 4409546 single base substitution C T missense_variant V711M 2131G>A STAD-US 16 4409546 4409546 single base substitution C T missense_variant V729M 2185G>A STAD-US 16 4409546 4409546 single base substitution C T upstream_gene_variant STAD-US 16 4409582 4409582 single base substitution G T 3_prime_UTR_variant STAD-US 16 4409582 4409582 single base substitution G T downstream_gene_variant STAD-US 16 4409582 4409582 single base substitution G T exon_variant STAD-US 16 4409582 4409582 single base substitution G T missense_variant L497M 1489C>A STAD-US 16 4409582 4409582 single base substitution G T missense_variant L632M 1894C>A STAD-US 16 4409582 4409582 single base substitution G T missense_variant L699M 2095C>A STAD-US 16 4409582 4409582 single base substitution G T missense_variant L717M 2149C>A STAD-US 16 4409582 4409582 single base substitution G T upstream_gene_variant STAD-US 16 4410338 4410338 single base substitution G A 3_prime_UTR_variant STAD-US 16 4410338 4410338 single base substitution G A downstream_gene_variant STAD-US 16 4410338 4410338 single base substitution G A exon_variant STAD-US 16 4410338 4410338 single base substitution G A synonymous_variant R463R 1389C>T STAD-US 16 4410338 4410338 single base substitution G A synonymous_variant R598R 1794C>T STAD-US 16 4410338 4410338 single base substitution G A synonymous_variant R665R 1995C>T STAD-US 16 4410338 4410338 single base substitution G A synonymous_variant R683R 2049C>T STAD-US 16 4410338 4410338 single base substitution G A upstream_gene_variant STAD-US 16 4411080 4411080 single base substitution G A 3_prime_UTR_variant STAD-US 16 4411080 4411080 single base substitution G A downstream_gene_variant STAD-US 16 4411080 4411080 single base substitution G A exon_variant STAD-US 16 4411080 4411080 single base substitution G A missense_variant T374M 1121C>T STAD-US 16 4411080 4411080 single base substitution G A missense_variant T509M 1526C>T STAD-US 16 4411080 4411080 single base substitution G A missense_variant T576M 1727C>T STAD-US 16 4411080 4411080 single base substitution G A missense_variant T594M 1781C>T STAD-US 16 4411080 4411080 single base substitution G A upstream_gene_variant STAD-US 16 4411442 4411442 single base substitution G A 3_prime_UTR_variant STAD-US 16 4411442 4411442 single base substitution G A downstream_gene_variant STAD-US 16 4411442 4411442 single base substitution G A exon_variant STAD-US 16 4411442 4411442 single base substitution G A missense_variant T316M 947C>T STAD-US 16 4411442 4411442 single base substitution G A missense_variant T451M 1352C>T STAD-US 16 4411442 4411442 single base substitution G A missense_variant T518M 1553C>T STAD-US 16 4411442 4411442 single base substitution G A missense_variant T536M 1607C>T STAD-US 16 4411442 4411442 single base substitution G A upstream_gene_variant STAD-US 16 4412678 4412678 single base substitution G T 3_prime_UTR_variant STAD-US 16 4412678 4412678 single base substitution G T downstream_gene_variant STAD-US 16 4412678 4412678 single base substitution G T exon_variant STAD-US 16 4412678 4412678 single base substitution G T intron_variant STAD-US 16 4412678 4412678 single base substitution G T missense_variant P226H 677C>A STAD-US 16 4412678 4412678 single base substitution G T missense_variant P278H 833C>A STAD-US 16 4412678 4412678 single base substitution G T missense_variant P361H 1082C>A STAD-US 16 4412678 4412678 single base substitution G T missense_variant P428H 1283C>A STAD-US 16 4412678 4412678 single base substitution G T missense_variant P446H 1337C>A STAD-US 16 4412678 4412678 single base substitution G T upstream_gene_variant STAD-US 16 4415045 4415045 single base substitution T C 3_prime_UTR_variant STAD-US 16 4415045 4415045 single base substitution T C exon_variant STAD-US 16 4415045 4415045 single base substitution T C intron_variant STAD-US 16 4415045 4415045 single base substitution T C missense_variant Y118C 353A>G STAD-US 16 4415045 4415045 single base substitution T C missense_variant Y131C 392A>G STAD-US 16 4415045 4415045 single base substitution T C missense_variant Y201C 602A>G STAD-US 16 4415045 4415045 single base substitution T C missense_variant Y268C 803A>G STAD-US 16 4415045 4415045 single base substitution T C missense_variant Y286C 857A>G STAD-US 16 4415045 4415045 single base substitution T C missense_variant Y66C 197A>G STAD-US 16 4415045 4415045 single base substitution T C upstream_gene_variant STAD-US 16 4431585 4431585 single base substitution G A intron_variant STAD-US 16 4431967 4431967 single base substitution C T intron_variant STAD-US 16 4432050 4432050 single base substitution G A intron_variant STAD-US 16 4432309 4432309 single base substitution C T intron_variant STAD-US 16 4432529 4432529 deletion of <=200bp G - intron_variant STAD-US 16 4438557 4438557 single base substitution C T 3_prime_UTR_variant STAD-US 16 4438557 4438557 single base substitution C T downstream_gene_variant STAD-US 16 4438557 4438557 single base substitution C T exon_variant STAD-US 16 4438557 4438557 single base substitution C T intron_variant STAD-US 16 4438557 4438557 single base substitution C T missense_variant G11R 31G>A STAD-US 16 4438557 4438557 single base substitution C T missense_variant G135R 403G>A STAD-US 16 4438557 4438557 single base substitution C T missense_variant G146R 436G>A STAD-US 16 4438557 4438557 single base substitution C T missense_variant G213R 637G>A STAD-US 16 4438557 4438557 single base substitution C T missense_variant G231R 691G>A STAD-US 16 4438557 4438557 single base substitution C T missense_variant G63R 187G>A STAD-US 16 4438557 4438557 single base substitution C T missense_variant G76R 226G>A STAD-US 16 4457673 4457673 single base substitution G A 3_prime_UTR_variant STAD-US 16 4457673 4457673 single base substitution G A 5_prime_UTR_variant STAD-US 16 4457673 4457673 single base substitution G A downstream_gene_variant STAD-US 16 4457673 4457673 single base substitution G A exon_variant STAD-US 16 4457673 4457673 single base substitution G A intron_variant STAD-US 16 4457673 4457673 single base substitution G A stop_gained R106* 316C>T STAD-US 16 4457673 4457673 single base substitution G A stop_gained R119* 355C>T STAD-US 16 4457673 4457673 single base substitution G A stop_gained R88* 262C>T STAD-US 16 4457673 4457673 single base substitution G A upstream_gene_variant STAD-US 16 4463375 4463375 single base substitution C T 3_prime_UTR_variant STAD-US 16 4463375 4463375 single base substitution C T 5_prime_UTR_variant STAD-US 16 4463375 4463375 single base substitution C T downstream_gene_variant STAD-US 16 4463375 4463375 single base substitution C T exon_variant STAD-US 16 4463375 4463375 single base substitution C T intron_variant STAD-US 16 4463375 4463375 single base substitution C T missense_variant A31T 91G>A STAD-US 16 4463375 4463375 single base substitution C T missense_variant A44T 130G>A STAD-US 16 4463375 4463375 single base substitution C T upstream_gene_variant THCA-SA 16 4405018 4405018 single base substitution G A 3_prime_UTR_variant THCA-SA 16 4405018 4405018 single base substitution G A downstream_gene_variant THCA-SA 16 4415055 4415055 insertion of <=200bp - C 3_prime_UTR_variant THCA-SA 16 4415055 4415055 insertion of <=200bp - C exon_variant THCA-SA 16 4415055 4415055 insertion of <=200bp - C frameshift_variant R115R? THCA-SA 16 4415055 4415055 insertion of <=200bp - C frameshift_variant R128R? THCA-SA 16 4415055 4415055 insertion of <=200bp - C frameshift_variant R198R? THCA-SA 16 4415055 4415055 insertion of <=200bp - C frameshift_variant R265R? THCA-SA 16 4415055 4415055 insertion of <=200bp - C frameshift_variant R283R? THCA-SA 16 4415055 4415055 insertion of <=200bp - C frameshift_variant R63R? THCA-SA 16 4415055 4415055 insertion of <=200bp - C intron_variant THCA-SA 16 4415055 4415055 insertion of <=200bp - C upstream_gene_variant THCA-US 16 4411173 4411173 single base substitution A C 3_prime_UTR_variant THCA-US 16 4411173 4411173 single base substitution A C downstream_gene_variant THCA-US 16 4411173 4411173 single base substitution A C exon_variant THCA-US 16 4411173 4411173 single base substitution A C synonymous_variant T368T 1104T>G THCA-US 16 4411173 4411173 single base substitution A C synonymous_variant T503T 1509T>G THCA-US 16 4411173 4411173 single base substitution A C synonymous_variant T570T 1710T>G THCA-US 16 4411173 4411173 single base substitution A C synonymous_variant T588T 1764T>G THCA-US 16 4411173 4411173 single base substitution A C upstream_gene_variant UCEC-US 16 4408026 4408026 single base substitution G A 3_prime_UTR_variant UCEC-US 16 4408026 4408026 single base substitution G A downstream_gene_variant UCEC-US 16 4408026 4408026 single base substitution G A exon_variant UCEC-US 16 4408026 4408026 single base substitution G A intron_variant UCEC-US 16 4408026 4408026 single base substitution G A stop_gained Q55* 163C>T UCEC-US 16 4408026 4408026 single base substitution G A stop_gained Q626* 1876C>T UCEC-US 16 4408026 4408026 single base substitution G A stop_gained Q761* 2281C>T UCEC-US 16 4408026 4408026 single base substitution G A stop_gained Q828* 2482C>T UCEC-US 16 4408026 4408026 single base substitution G A stop_gained Q846* 2536C>T UCEC-US 16 4408101 4408101 single base substitution C A 3_prime_UTR_variant UCEC-US 16 4408101 4408101 single base substitution C A downstream_gene_variant UCEC-US 16 4408101 4408101 single base substitution C A exon_variant UCEC-US 16 4408101 4408101 single base substitution C A intron_variant UCEC-US 16 4408101 4408101 single base substitution C A stop_gained E30* 88G>T UCEC-US 16 4408101 4408101 single base substitution C A stop_gained E601* 1801G>T UCEC-US 16 4408101 4408101 single base substitution C A stop_gained E736* 2206G>T UCEC-US 16 4408101 4408101 single base substitution C A stop_gained E803* 2407G>T UCEC-US 16 4408101 4408101 single base substitution C A stop_gained E821* 2461G>T UCEC-US 16 4408455 4408455 single base substitution G A 3_prime_UTR_variant UCEC-US 16 4408455 4408455 single base substitution G A downstream_gene_variant UCEC-US 16 4408455 4408455 single base substitution G A exon_variant UCEC-US 16 4408455 4408455 single base substitution G A synonymous_variant C570C 1710C>T UCEC-US 16 4408455 4408455 single base substitution G A synonymous_variant C705C 2115C>T UCEC-US 16 4408455 4408455 single base substitution G A synonymous_variant C772C 2316C>T UCEC-US 16 4408455 4408455 single base substitution G A synonymous_variant C790C 2370C>T UCEC-US 16 4408455 4408455 single base substitution G A upstream_gene_variant UCEC-US 16 4410510 4410510 single base substitution C T 3_prime_UTR_variant UCEC-US 16 4410510 4410510 single base substitution C T downstream_gene_variant UCEC-US 16 4410510 4410510 single base substitution C T exon_variant UCEC-US 16 4410510 4410510 single base substitution C T missense_variant A433T 1297G>A UCEC-US 16 4410510 4410510 single base substitution C T missense_variant A568T 1702G>A UCEC-US 16 4410510 4410510 single base substitution C T missense_variant A635T 1903G>A UCEC-US 16 4410510 4410510 single base substitution C T missense_variant A653T 1957G>A UCEC-US 16 4410510 4410510 single base substitution C T upstream_gene_variant UCEC-US 16 4410535 4410535 single base substitution G T 3_prime_UTR_variant UCEC-US 16 4410535 4410535 single base substitution G T downstream_gene_variant UCEC-US 16 4410535 4410535 single base substitution G T exon_variant UCEC-US 16 4410535 4410535 single base substitution G T synonymous_variant A424A 1272C>A UCEC-US 16 4410535 4410535 single base substitution G T synonymous_variant A559A 1677C>A UCEC-US 16 4410535 4410535 single base substitution G T synonymous_variant A626A 1878C>A UCEC-US 16 4410535 4410535 single base substitution G T synonymous_variant A644A 1932C>A UCEC-US 16 4410535 4410535 single base substitution G T upstream_gene_variant UCEC-US 16 4411019 4411019 single base substitution G A 3_prime_UTR_variant UCEC-US 16 4411019 4411019 single base substitution G A downstream_gene_variant UCEC-US 16 4411019 4411019 single base substitution G A exon_variant UCEC-US 16 4411019 4411019 single base substitution G A synonymous_variant S394S 1182C>T UCEC-US 16 4411019 4411019 single base substitution G A synonymous_variant S529S 1587C>T UCEC-US 16 4411019 4411019 single base substitution G A synonymous_variant S596S 1788C>T UCEC-US 16 4411019 4411019 single base substitution G A synonymous_variant S614S 1842C>T UCEC-US 16 4411019 4411019 single base substitution G A upstream_gene_variant UCEC-US 16 4411087 4411087 single base substitution C A downstream_gene_variant UCEC-US 16 4411087 4411087 single base substitution C A splice_acceptor_variant UCEC-US 16 4411087 4411087 single base substitution C A upstream_gene_variant UCEC-US 16 4412714 4412714 single base substitution G A 3_prime_UTR_variant UCEC-US 16 4412714 4412714 single base substitution G A downstream_gene_variant UCEC-US 16 4412714 4412714 single base substitution G A exon_variant UCEC-US 16 4412714 4412714 single base substitution G A intron_variant UCEC-US 16 4412714 4412714 single base substitution G A missense_variant S214L 641C>T UCEC-US 16 4412714 4412714 single base substitution G A missense_variant S266L 797C>T UCEC-US 16 4412714 4412714 single base substitution G A missense_variant S349L 1046C>T UCEC-US 16 4412714 4412714 single base substitution G A missense_variant S416L 1247C>T UCEC-US 16 4412714 4412714 single base substitution G A missense_variant S434L 1301C>T UCEC-US 16 4412714 4412714 single base substitution G A upstream_gene_variant UCEC-US 16 4414870 4414870 single base substitution C T 3_prime_UTR_variant UCEC-US 16 4414870 4414870 single base substitution C T exon_variant UCEC-US 16 4414870 4414870 single base substitution C T intron_variant UCEC-US 16 4414870 4414870 single base substitution C T missense_variant R149Q 446G>A UCEC-US 16 4414870 4414870 single base substitution C T missense_variant R162Q 485G>A UCEC-US 16 4414870 4414870 single base substitution C T missense_variant R232Q 695G>A UCEC-US 16 4414870 4414870 single base substitution C T missense_variant R299Q 896G>A UCEC-US 16 4414870 4414870 single base substitution C T missense_variant R317Q 950G>A UCEC-US 16 4414870 4414870 single base substitution C T missense_variant R97Q 290G>A UCEC-US 16 4414870 4414870 single base substitution C T upstream_gene_variant UCEC-US 16 4432888 4432888 single base substitution G A downstream_gene_variant UCEC-US 16 4432888 4432888 single base substitution G A intron_variant UCEC-US 16 4458242 4458242 single base substitution G A 3_prime_UTR_variant UCEC-US 16 4458242 4458242 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 16 4458242 4458242 single base substitution G A exon_variant UCEC-US 16 4458242 4458242 single base substitution G A intron_variant UCEC-US 16 4458242 4458242 single base substitution G A synonymous_variant T81T 243C>T UCEC-US 16 4458242 4458242 single base substitution G A synonymous_variant T94T 282C>T UCEC-US 16 4458242 4458242 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-ER-A2NG-06 COSM3509623 c.1290C>T p.S430S Substitution - coding silent 16:4362724-4362724 - TCGA-34-2596-01 COSM703768 c.1583G>A p.R528Q Substitution - Missense 16:4361465-4361465 - ESCC_29 COSM5627480 c.43C>T p.R15W Substitution - Missense 16:4416476-4416476 - TCGA-BR-6452-01 COSM2920372 c.2185G>A p.V729M Substitution - Missense 16:4359545-4359545 - 53M COSM5594442 c.1867G>A p.D623N Substitution - Missense 16:4360993-4360993 - TCGA-FS-A1ZN-01 COSM3509622 c.1291C>T p.P431S Substitution - Missense 16:4362723-4362723 - TCGA-61-1741-01 COSM1324443 c.87A>T p.G29G Substitution - coding silent 16:4413378-4413378 - SJMB040 COSM255864 c.411_412delCT p.S138fs*1 Deletion - Frameshift 16:4407576-4407577 - TCGA-B6-A0X1-01 COSM435253 c.2478C>T p.D826D Substitution - coding silent 16:4358083-4358083 - TCGA-AD-6964-01 COSM1377924 c.462C>T p.D154D Substitution - coding silent 16:4407526-4407526 - YUKIL COSM1708700 c.1190C>T p.S397F Substitution - Missense 16:4364361-4364361 - CSCC-27-T COSM970685 c.1842C>T p.S614S Substitution - coding silent 16:4361018-4361018 - TCGA-BR-8372-01 COSM4060775 c.857A>G p.Y286C Substitution - Missense 16:4365044-4365044 - BD217T COSM5495457 c.879G>C p.Q293H Substitution - Missense 16:4365022-4365022 - TCGA-D1-A103-01 COSM970690 c.243C>T p.T81T Substitution - coding silent 16:4408241-4408241 - 2290930 COSM4440410 c.295G>A p.D99N Substitution - Missense 16:4408189-4408189 - J90_T COSM3957569 c.1576G>T p.E526* Substitution - Nonsense 16:4361987-4361987 - C0046T COSM4151334 c.2148C>G p.A716A Substitution - coding silent 16:4359582-4359582 - sysucc-783T COSM5484027 c.2340+1G>A p.? Unknown 16:4359295-4359295 - C086 COSM5529111 c.762C>T p.S254S Substitution - coding silent 16:4388009-4388009 - B82-Tumor COSM1749602 c.2581G>A p.D861N Substitution - Missense 16:4357980-4357980 - C086 COSM5529109 c.1835C>T p.S612L Substitution - Missense 16:4361025-4361025 - TCGA-A2-A0YK-01 COSM435255 c.815C>A p.S272Y Substitution - Missense 16:4365516-4365516 - TCGA-ER-A19D-06 COSM3509631 c.141C>T p.F47F Substitution - coding silent 16:4413324-4413324 - SNU-175 COSM4650378 c.1083C>T p.A361A Substitution - coding silent 16:4364651-4364651 - SW1222 COSM4654757 c.86G>A p.G29E Substitution - Missense 16:4413379-4413379 - TCGA-BT-A20O-01 COSM417004 c.3G>A p.M1I Substitution - Missense 16:4416516-4416516 - TCGA-JW-A5VL-01 COSM4847567 c.2215G>C p.D739H Substitution - Missense 16:4359515-4359515 - TCGA-28-5220-01 COSM3402328 c.1170G>A p.R390R Substitution - coding silent 16:4364381-4364381 - TCGA-D1-A103-01 COSM970688 c.950G>A p.R317Q Substitution - Missense 16:4364869-4364869 - TCGA-33-4566-01 COSM703765 c.877C>T p.Q293* Substitution - Nonsense 16:4365024-4365024 - CSCC-60-T COSM4545895 c.388G>A p.E130K Substitution - Missense 16:4407600-4407600 - TCGA-CG-4442-01 COSM4060769 c.2203C>A p.L735M Substitution - Missense 16:4359527-4359527 - TCGA-AP-A0LM-01 COSM237233 c.2370C>T p.C790C Substitution - coding silent 16:4358454-4358454 - SJMB040 COSM255864 c.411_412delCT p.S138fs*1 Deletion - Frameshift 16:4407576-4407577 - SNU-C2B COSM4651268 c.88A>G p.T30A Substitution - Missense 16:4413377-4413377 - 587342 COSM1202099 c.303+2T>C p.? Unknown 16:4408179-4408179 - ESCC_13 COSM5625160 c.1275+1G>A p.? Unknown 16:4364275-4364275 - CSCC-31-T COSM4490891 c.370C>T p.P124S Substitution - Missense 16:4407618-4407618 - B52-Tumor COSM1749603 c.1770C>T p.L590L Substitution - coding silent 16:4361166-4361166 - TCGA-EE-A3JD-06 COSM4395965 c.2626C>T p.R876W Substitution - Missense 16:4357227-4357227 - CRC-06T COSM5456542 c.2466C>A p.F822L Substitution - Missense 16:4358095-4358095 - T3225 COSM4674241 c.1425T>C p.H475H Substitution - coding silent 16:4362138-4362138 - PD8977a COSM5798059 c.899-4A>T p.? Unknown 16:4364924-4364924 - 5 COSM4333319 c.1996C>G p.P666A Substitution - Missense 16:4360470-4360470 - CSCC-29-T COSM4461732 c.1218C>T p.L406L Substitution - coding silent 16:4364333-4364333 - TCGA-CG-5723-01 COSM4060781 c.91G>A p.A31T Substitution - Missense 16:4413374-4413374 - TCGA-CM-5861-01 COSM1377915 c.1062G>T p.E354D Substitution - Missense 16:4364672-4364672 - H23 COSM1196277 c.2477A>T p.D826V Substitution - Missense 16:4358084-4358084 - TCGA-BR-8363-01 COSM4060768 c.2554C>T p.P852S Substitution - Missense 16:4358007-4358007 - LS174T COSM2920400 c.1238C>T p.A413V Substitution - Missense 16:4364313-4364313 - C0029T COSM4151335 c.1368C>A p.T456T Substitution - coding silent 16:4362646-4362646 - OSCC-GB_00550111 COSM4884859 c.2624G>A p.R875H Substitution - Missense 16:4357229-4357229 - C086 COSM5529110 c.408C>T p.P136P Substitution - coding silent 16:4407580-4407580 - T3724 COSM4674238 c.2572C>T p.Q858* Substitution - Nonsense 16:4357989-4357989 - TCGA-AF-2687-01 COSM1563113 c.1858C>A p.R620S Substitution - Missense 16:4361002-4361002 - TCGA-B0-5100-01 COSM471725 c.2772G>T p.W924C Substitution - Missense 16:4355286-4355286 - TCGA-AC-A23H-01 COSM3817981 c.1470C>G p.L490L Substitution - coding silent 16:4362093-4362093 - LUAD-E00934 COSM403362 c.503G>A p.G168E Substitution - Missense 16:4405552-4405552 - 2290929 COSM4440410 c.295G>A p.D99N Substitution - Missense 16:4408189-4408189 - LUAD-YINHD COSM388488 c.2609G>A p.R870Q Substitution - Missense 16:4357244-4357244 - TCGA-CD-A4MG-01 COSM4060774 c.1337C>A p.P446H Substitution - Missense 16:4362677-4362677 - T207 COSM4674237 c.2730A>G p.P910P Substitution - coding silent 16:4355328-4355328 - LUAD-YINHD COSM349191 c.1626G>A p.Q542Q Substitution - coding silent 16:4361422-4361422 - PTC_362 COSM5958455 c.846_847insG p.R283fs*89 Insertion - Frameshift 16:4365054-4365055 - T3225 COSM4674240 c.1917+2T>C p.? Unknown 16:4360941-4360941 - TCGA-18-3409-01 COSM703769 c.1888C>T p.R630W Substitution - Missense 16:4360972-4360972 - PTC-7C COSM435259 c.578G>A p.R193Q Substitution - Missense 16:4395326-4395326 - HCC41T COSM1609331 c.1320G>A p.T440T Substitution - coding silent 16:4362694-4362694 - HCT116 COSM2920433 c.358delG p.V120fs*24 Deletion - Frameshift 16:4407630-4407630 - TCGA-D5-6927-01 COSM1377922 c.669C>A p.T223T Substitution - coding silent 16:4388578-4388578 - 2292384 COSM4610315 c.1721T>G p.V574G Substitution - Missense 16:4361215-4361215 - TCGA-EE-A29E-06 COSM3509619 c.2301C>T p.F767F Substitution - coding silent 16:4359335-4359335 - TCGA-AZ-4615-01 COSM3754895 c.1557G>A p.G519G Substitution - coding silent 16:4362006-4362006 - PDA_031 COSM4999524 c.1802G>T p.R601L Substitution - Missense 16:4361058-4361058 - cSCCP7 COSM143693 c.2420_2421CC>TT p.S807F Substitution - Missense 16:4358403-4358404 - DLBCL831 COSM1377916 c.1015G>A p.V339M Substitution - Missense 16:4364804-4364804 - RK308_C01 COSM3741925 c.2390T>C p.L797P Substitution - Missense 16:4358434-4358434 - CHC1186T COSM4803378 c.2011G>T p.E671* Substitution - Nonsense 16:4360455-4360455 - TCGA-BR-7197-01 COSM4060772 c.1781C>T p.T594M Substitution - Missense 16:4361079-4361079 - HCC41 COSM1609331 c.1320G>A p.T440T Substitution - coding silent 16:4362694-4362694 - DLBCL834 COSM1580737 c.2287G>A p.E763K Substitution - Missense 16:4359349-4359349 - T1743 COSM4674242 c.1420C>T p.R474C Substitution - Missense 16:4362143-4362143 - TCGA-B5-A0JY-01 COSM970685 c.1842C>T p.S614S Substitution - coding silent 16:4361018-4361018 - TCGA-AX-A0J0-01 COSM970682 c.2461G>T p.E821* Substitution - Nonsense 16:4358100-4358100 - B82 COSM1749602 c.2581G>A p.D861N Substitution - Missense 16:4357980-4357980 - TCGA-D1-A16F-01 COSM970683 c.1957G>A p.A653T Substitution - Missense 16:4360509-4360509 - TCGA-ER-A3PL-06 COSM3509620 c.2283C>T p.L761L Substitution - coding silent 16:4359353-4359353 - P05-3436 COSM242503 c.2764G>T p.D922Y Substitution - Missense 16:4355294-4355294 - D28 COSM5544748 c.2195C>T p.S732L Substitution - Missense 16:4359535-4359535 - TCGA-A6-2675-01 COSM3691006 c.2542G>A p.A848T Substitution - Missense 16:4358019-4358019 - TCGA-EB-A41B-01 COSM3509624 c.1289C>T p.S430F Substitution - Missense 16:4362725-4362725 - TCGA-A2-A0T5-01 COSM3817984 c.215A>C p.H72P Substitution - Missense 16:4412373-4412373 - CSCC-37-T COSM4539376 c.2679G>A p.K893K Substitution - coding silent 16:4357174-4357174 - Pat_11_B COSM5850916 c.2494G>A p.A832T Substitution - Missense 16:4358067-4358067 - TCGA-19-5958-01 COSM3402326 c.2261G>A p.R754H Substitution - Missense 16:4359375-4359375 - PT33 COSM5909492 c.2734C>T p.P912S Substitution - Missense 16:4355324-4355324 - YUKIL COSM1708698 c.1231C>T p.Q411* Substitution - Nonsense 16:4364320-4364320 - CH-144-T2 COSM5650759 c.175C>T p.P59S Substitution - Missense 16:4412413-4412413 - TCGA-33-4583-01 COSM703766 c.898+2T>A p.? Unknown 16:4365001-4365001 - BK0034 COSM4187034 c.1025G>C p.G342A Substitution - Missense 16:4364794-4364794 - TCGA-AP-A059-01 COSM970686 c.1775-1G>T p.? Unknown 16:4361086-4361086 - 1517_PT COSM2920361 c.2642C>T p.A881V Substitution - Missense 16:4357211-4357211 - YUKLAB COSM1708701 c.146C>T p.S49F Substitution - Missense 16:4413319-4413319 - NPC7F COSM4995662 c.2624G>T p.R875L Substitution - Missense 16:4357229-4357229 - NCI-H23 COSM1196277 c.2477A>T p.D826V Substitution - Missense 16:4358084-4358084 - ESCC_BICR_054T COSM5444218 c.2449C>T p.R817* Substitution - Nonsense 16:4358375-4358375 - TCGA-AR-A1AQ-01 COSM435260 c.291G>T p.S97S Substitution - coding silent 16:4408193-4408193 - Pat_41_A COSM5625160 c.1275+1G>A p.? Unknown 16:4364275-4364275 - sysucc-274T COSM5475872 c.2495C>T p.A832V Substitution - Missense 16:4358066-4358066 - TCGA-BF-A1PZ-01 COSM4399378 c.1029C>T p.Y343Y Substitution - coding silent 16:4364790-4364790 - 587332 COSM1202098 c.436G>A p.A146T Substitution - Missense 16:4407552-4407552 - TCGA-G4-6588-01 COSM1377912 c.2450G>A p.R817Q Substitution - Missense 16:4358374-4358374 - TCGA-IR-A3LI-01 COSM4846263 c.1989C>T p.V663V Substitution - coding silent 16:4360477-4360477 - B61-Tumor COSM327401 c.1731G>C p.E577D Substitution - Missense 16:4361205-4361205 - Pat_11_A COSM5850916 c.2494G>A p.A832T Substitution - Missense 16:4358067-4358067 - LAU108 COSM232086 c.985C>T p.R329C Substitution - Missense 16:4364834-4364834 - S02277 COSM5683107 c.1254C>A p.P418P Substitution - coding silent 16:4364297-4364297 - S00944 COSM5664086 c.148G>T p.D50Y Substitution - Missense 16:4413317-4413317 - TCGA-D1-A103-01 COSM970684 c.1932C>A p.A644A Substitution - coding silent 16:4360534-4360534 - pfg127T COSM4749018 c.2679G>T p.K893N Substitution - Missense 16:4357174-4357174 - HCT15 COSM1377912 c.2450G>A p.R817Q Substitution - Missense 16:4358374-4358374 - ESCC_17 COSM5625919 c.2501T>A p.I834N Substitution - Missense 16:4358060-4358060 - TCGA-BR-4292-01 COSM4060770 c.2149C>A p.L717M Substitution - Missense 16:4359581-4359581 - CSCC-47-T COSM4479187 c.2301C>G p.F767L Substitution - Missense 16:4359335-4359335 - LUAD-E01278 COSM394153 c.280G>T p.A94S Substitution - Missense 16:4408204-4408204 - S02249 COSM5680019 c.713G>A p.R238H Substitution - Missense 16:4388058-4388058 - ESCC-110T COSM3937065 c.2048G>A p.R683H Substitution - Missense 16:4360338-4360338 - TCGA-DK-A1AE-01 COSM1301967 c.1608G>A p.T536T Substitution - coding silent 16:4361440-4361440 - 61 COSM5740544 c.136G>A p.A46T Substitution - Missense 16:4413329-4413329 - BCM501T COSM5347382 c.1984_2000del17 p.R662fs*4 Deletion - Frameshift 16:4360466-4360482 - TCGA-IH-A3EA-01 COSM3509625 c.1177C>T p.P393S Substitution - Missense 16:4364374-4364374 - TCGA-56-1622-01 COSM703770 c.2599C>T p.Q867* Substitution - Nonsense 16:4357254-4357254 - LS180 COSM2920400 c.1238C>T p.A413V Substitution - Missense 16:4364313-4364313 - B61 COSM327401 c.1731G>C p.E577D Substitution - Missense 16:4361205-4361205 - T3090 COSM237233 c.2370C>T p.C790C Substitution - coding silent 16:4358454-4358454 - TCGA-DR-A0ZM-01 COSM460539 c.1392G>C p.Q464H Substitution - Missense 16:4362622-4362622 - TCGA-CM-6162-01 COSM1377916 c.1015G>A p.V339M Substitution - Missense 16:4364804-4364804 - 10 COSM327401 c.1731G>C p.E577D Substitution - Missense 16:4361205-4361205 - TCGA-AZ-6598-01 COSM1377914 c.1311G>A p.S437S Substitution - coding silent 16:4362703-4362703 - TCGA-RP-A694-06 COSM4894210 c.1670C>T p.P557L Substitution - Missense 16:4361378-4361378 - TCGA-BR-4361-01 COSM4060773 c.1607C>T p.T536M Substitution - Missense 16:4361441-4361441 - TCGA-EK-A2RA-01 COSM4848433 c.855G>C p.L285L Substitution - coding silent 16:4365046-4365046 - ESO-864 COSM1248991 c.30G>A p.R10R Substitution - coding silent 16:4416489-4416489 - TCGA-13-2065-01 COSM1324444 c.950G>C p.R317P Substitution - Missense 16:4364869-4364869 - CHC1186T COSM4803378 c.2011G>T p.E671* Substitution - Nonsense 16:4360455-4360455 - TCGA-C8-A1HG-01 COSM435254 c.1534G>A p.A512T Substitution - Missense 16:4362029-4362029 - T1154 COSM4674239 c.2047C>T p.R683C Substitution - Missense 16:4360339-4360339 - pfg127T COSM2920365 c.2404C>T p.R802W Substitution - Missense 16:4358420-4358420 - TCGA-BR-4368-01 COSM4060771 c.2049C>T p.R683R Substitution - coding silent 16:4360337-4360337 - 1517_CLM COSM2920361 c.2642C>T p.A881V Substitution - Missense 16:4357211-4357211 - AA1830 COSM4168588 c.2479G>A p.V827M Substitution - Missense 16:4358082-4358082 - DLBCL783 COSM1582000 c.2615_2616insC p.A874fs*16 Insertion - Frameshift 16:4357237-4357238 - CSCC-1-T COSM4450506 c.899-1G>A p.? Unknown 16:4364921-4364921 - TCGA-B5-A0JY-01 COSM970687 c.1301C>T p.S434L Substitution - Missense 16:4362713-4362713 - YUBAN COSM1708699 c.1204C>T p.P402S Substitution - Missense 16:4364347-4364347 - CHEWS010 COSM4579039 c.1024G>A p.G342S Substitution - Missense 16:4364795-4364795 - 8069321 COSM3771945 c.868G>T p.V290L Substitution - Missense 16:4365033-4365033 - TCGA-D5-6928-01 COSM1377923 c.555G>A p.T185T Substitution - coding silent 16:4405500-4405500 - 3N51-VS-3T51 COSM4983264 c.2749G>T p.E917* Substitution - Nonsense 16:4355309-4355309 - ESCC-246T COSM3937068 c.621G>T p.T207T Substitution - coding silent 16:4388626-4388626 - Pat_06_A COSM5850917 c.1999C>T p.R667W Substitution - Missense 16:4360467-4360467 - TCGA-EE-A3AG-06 COSM3509621 c.1675C>T p.R559C Substitution - Missense 16:4361373-4361373 - TCGA-EB-A299-01 COSM3509618 c.2485C>T p.P829S Substitution - Missense 16:4358076-4358076 - TCGA-B0-5713-01 COSM471726 c.2364G>A p.T788T Substitution - coding silent 16:4358460-4358460 - PD24202a COSM5799636 c.1872T>A p.L624L Substitution - coding silent 16:4360988-4360988 - SA097 COSM213634 c.385G>C p.V129L Substitution - Missense 16:4407603-4407603 - PD7248a COSM5148758 c.1101C>T p.T367T Substitution - coding silent 16:4364633-4364633 - CSCC-4-T COSM4461798 c.1220C>T p.P407L Substitution - Missense 16:4364331-4364331 - CSCC-27-T COSM4482002 c.2565C>T p.L855L Substitution - coding silent 16:4357996-4357996 - WA16 COSM237233 c.2370C>T p.C790C Substitution - coding silent 16:4358454-4358454 - CSCC-55-T COSM4483819 c.273C>T p.F91F Substitution - coding silent 16:4408211-4408211 - H1155 COSM1196127 c.754C>A p.L252M Substitution - Missense 16:4388017-4388017 - TCGA-AX-A0J1-01 COSM970681 c.2536C>T p.Q846* Substitution - Nonsense 16:4358025-4358025 - TCGA-74-6575-01 COSM3402327 c.1595G>A p.R532H Substitution - Missense 16:4361453-4361453 - TCGA-BR-6452-01 COSM4060780 c.691G>A p.G231R Substitution - Missense 16:4388556-4388556 - TCGA-QB-A6FS-06 COSM970687 c.1301C>T p.S434L Substitution - Missense 16:4362713-4362713 - CSCC-11-T COSM4483765 c.2735C>T p.P912L Substitution - Missense 16:4355323-4355323 - B52 COSM1749603 c.1770C>T p.L590L Substitution - coding silent 16:4361166-4361166 - 3101B7_032_T COSM5041341 c.2084G>C p.C695S Substitution - Missense 16:4360302-4360302 - T44 COSM5342778 c.988G>A p.V330I Substitution - Missense 16:4364831-4364831 - PT48 COSM5909492 c.2734C>T p.P912S Substitution - Missense 16:4355324-4355324 - TCGA-DY-A0XA-01 COSM1563112 c.554C>T p.T185M Substitution - Missense 16:4405501-4405501 - OSCC-GB_00850111 COSM4891495 c.2363C>T p.T788M Substitution - Missense 16:4358461-4358461 - ESO-H63 COSM1248992 c.586G>T p.D196Y Substitution - Missense 16:4395318-4395318 - LUAD-B01811 COSM334033 c.2521G>T p.A841S Substitution - Missense 16:4358040-4358040 - TCGA-IH-A3EA-01 COSM970687 c.1301C>T p.S434L Substitution - Missense 16:4362713-4362713 - RK119_C01 COSM3741926 c.1269C>T p.D423D Substitution - coding silent 16:4364282-4364282 - CSCC-40-T COSM4492974 c.407C>T p.P136L Substitution - Missense 16:4407581-4407581 - TCGA-34-2600-01 COSM703767 c.946C>G p.P316A Substitution - Missense 16:4364873-4364873 - 19M COSM5578345 c.955G>A p.A319T Substitution - Missense 16:4364864-4364864 - TCGA-CD-8527-01 COSM2920434 c.316C>T p.R106* Substitution - Nonsense 16:4407672-4407672 - TCGA-BH-A0EE-01 COSM5833086 c.1476_1477insG p.L493fs*8 Insertion - Frameshift 16:4362086-4362087 - TCGA-ET-A2N1-01 COSM3370434 c.1764T>G p.T588T Substitution - coding silent 16:4361172-4361172 - TCGA-BF-A1Q0-01 COSM3509617 c.2503T>A p.W835R Substitution - Missense 16:4358058-4358058 - YUSCA COSM5384881 c.1536C>T p.A512A Substitution - coding silent 16:4362027-4362027 - HCT-15 COSM1377912 c.2450G>A p.R817Q Substitution - Missense 16:4358374-4358374 - CSCC-62-T COSM4461634 c.1214C>T p.P405L Substitution - Missense 16:4364337-4364337 - CRC-02T COSM5454451 c.1152C>T p.S384S Substitution - coding silent 16:4364399-4364399 - H358 COSM1194154 c.83C>T p.A28V Substitution - Missense 16:4413382-4413382 - TCGA-BT-A0YX-01 COSM417005 c.1485C>T p.L495L Substitution - coding silent 16:4362078-4362078 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.437957 16p13.3 611668 2483208|CGAP|BC117289|C/T|non-coding||3141|Candidate; 2483208|CGAP|BC117291|C/T|non-coding||3141|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.W835R c.2503T>A 16 4408059 CM A T SpliceDonorSNV . c.898+2T>A 16 4415002 LUSC C A Missense p.D196Y c.586G>T 16 4445319 ESCA C A Missense p.E796D c.2388G>T 16 4408437 LUAD C A Missense p.K887N c.2661G>T 16 4407193 BRCA C A Missense p.W924C c.2772G>T 16 4405287 RCCC C G Missense p.V129L c.385G>C 16 4457604 BRCA C T Missense p.A512T c.1534G>A 16 4412030 BRCA C T Missense p.A653T c.1957G>A 16 4410510 UCEC C T Missense p.M1I c.3G>A 16 4466517 BLCA C T Missense p.R528Q c.1583G>A 16 4411466 LUSC C T Missense p.R532H c.1595G>A 16 4411454 GBM C T Missense p.R754H c.2261G>A 16 4409376 GBM C T Missense p.R799Q c.2396G>A 16 4408429 HNSC G A Missense p.P393S c.1177C>T 16 4414375 CM G A Missense p.P431S c.1291C>T 16 4412724 CM G A Missense p.P432S c.1294C>T 16 4412721 CM G A Missense p.P829S c.2485C>T 16 4408077 CM G A Missense p.R559C c.1675C>T 16 4411374 CM G A Missense p.R876W c.2626C>T 16 4407228 CM G A Missense p.S434L c.1301C>T 16 4412714 CM G A Nonsense p.Q867* c.2599C>T 16 4407255 LUSC G C Missense p.F756L c.2268C>G 16 4409369 THCA G C Missense p.P316A c.946C>G 16 4414874 LUSC G T Missense p.L717M c.2149C>A 16 4409582 STAD G T Missense p.S272Y c.815C>A 16 4415517 BRCA T A Missense p.Y883F c.2648A>T 16 4407206 CM