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 3 18390764 18390764 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr3:18390764C>T c.2190G>A c.(2188-2190)gaG>gaA p.E730E BLCA 3 18390769 18390769 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr3:18390769C>T c.2185G>A c.(2185-2187)Gaa>Aaa p.E729K BLCA 3 18391087 18391087 + Missense_Mutation SNP G G A TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr3:18391087G>A c.1867C>T c.(1867-1869)Cgg>Tgg p.R623W BLCA 3 18391145 18391145 + Silent SNP C C T TCGA-XF-A9T2-01A-11D-A42E-08 TCGA-XF-A9T2-10A-01D-A42H-08 g.chr3:18391145C>T c.1809G>A c.(1807-1809)caG>caA p.Q603Q BLCA 3 18393545 18393545 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 g.chr3:18393545G>A c.1718C>T c.(1717-1719)gCg>gTg p.A573V BLCA 3 18427954 18427954 + Silent SNP C C T TCGA-GV-A3QG-01A-11D-A21Z-08 TCGA-GV-A3QG-10A-01D-A21Z-08 g.chr3:18427954C>T c.1356G>A c.(1354-1356)ttG>ttA p.L452L BLCA 3 18436385 18436385 + Silent SNP G G A TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr3:18436385G>A c.775C>T c.(775-777)Cta>Tta p.L259L BLCA 3 18438680 18438680 + Missense_Mutation SNP C C G TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chr3:18438680C>G c.742G>C c.(742-744)Gat>Cat p.D248H BLCA 3 18456659 18456659 + Missense_Mutation SNP C C T TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr3:18456659C>T c.583G>A c.(583-585)Gac>Aac p.D195N BLCA 3 18457502 18457502 + Missense_Mutation SNP T T C TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr3:18457502T>C c.512A>G c.(511-513)cAc>cGc p.H171R BLCA 3 18462271 18462271 + Silent SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr3:18462271C>T c.189G>A c.(187-189)ctG>ctA p.L63L BRCA 3 18390766 18390766 + Missense_Mutation SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr3:18390766C>T c.2188G>A c.(2188-2190)Gag>Aag p.E730K BRCA 3 18390811 18390811 + Missense_Mutation SNP C C T TCGA-B6-A0X5-01A-21D-A10G-09 TCGA-B6-A0X5-10A-01D-A10G-09 g.chr3:18390811C>T c.2143G>A c.(2143-2145)Gat>Aat p.D715N BRCA 3 18427909 18427909 + Silent SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr3:18427909T>G c.1401A>C c.(1399-1401)ccA>ccC p.P467P BRCA 3 18436023 18436023 + Silent SNP T T C TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr3:18436023T>C c.1137A>G c.(1135-1137)gtA>gtG p.V379V BRCA 3 18436217 18436217 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:18436217G>T c.943C>A c.(943-945)Caa>Aaa p.Q315K BRCA 3 18436303 18436303 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr3:18436303G>A c.857C>T c.(856-858)gCg>gTg p.A286V BRCA 3 18438674 18438674 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr3:18438674T>C c.748A>G c.(748-750)Atg>Gtg p.M250V BRCA 3 18438718 18438719 + Missense_Mutation DNP TC TC AG TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr3:18438718_18438719TC>AG c.703_704GA>CT c.(703-705)GAa>CTa p.E235L BRCA 3 18456713 18456713 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr3:18456713C>G c.529G>C c.(529-531)Gaa>Caa p.E177Q BRCA 3 18458465 18458465 + Missense_Mutation SNP A A T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 g.chr3:18458465A>T c.317T>A c.(316-318)cTt>cAt p.L106H CESC 3 18427918 18427918 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr3:18427918G>C c.1392C>G c.(1390-1392)atC>atG p.I464M CHOL 3 18391133 18391135 + In_Frame_Del DEL CTG CTG - TCGA-3X-AAVC-01A-21D-A417-09 TCGA-3X-AAVC-10A-01D-A41A-09 g.chr3:18391133_18391135delCTG c.1819_1821delCAG c.(1819-1821)cagdel p.Q607del COAD 3 18390815 18390815 + Missense_Mutation SNP C C G TCGA-A6-6648-01A-11D-1771-10 TCGA-A6-6648-10A-01D-1771-10 g.chr3:18390815C>G c.2139G>C c.(2137-2139)gaG>gaC p.E713D COAD 3 18391030 18391030 + Nonsense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr3:18391030G>A c.1924C>T c.(1924-1926)Cga>Tga p.R642* COAD 3 18391077 18391077 + Frame_Shift_Del DEL G G - TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr3:18391077delG c.1877delC c.(1876-1878)ccafs p.P626fs COAD 3 18391148 18391148 + Silent SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr3:18391148C>T c.1806G>A c.(1804-1806)caG>caA p.Q602Q COAD 3 18393548 18393548 + Missense_Mutation SNP T T C TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr3:18393548T>C c.1715A>G c.(1714-1716)aAc>aGc p.N572S COAD 3 18393548 18393548 + Missense_Mutation SNP T T C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr3:18393548T>C c.1715A>G c.(1714-1716)aAc>aGc p.N572S COAD 3 18393548 18393548 + Missense_Mutation SNP T T C TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr3:18393548T>C c.1715A>G c.(1714-1716)aAc>aGc p.N572S COAD 3 18393549 18393549 + Missense_Mutation SNP T T C TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr3:18393549T>C c.1714A>G c.(1714-1716)Aac>Gac p.N572D COAD 3 18419683 18419683 + Missense_Mutation SNP C C A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr3:18419683C>A c.1554G>T c.(1552-1554)aaG>aaT p.K518N COAD 3 18419722 18419722 + Silent SNP T T C TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr3:18419722T>C c.1515A>G c.(1513-1515)gaA>gaG p.E505E COAD 3 18419722 18419722 + Silent SNP T T C TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:18419722T>C c.1515A>G c.(1513-1515)gaA>gaG p.E505E COAD 3 18419723 18419723 + Missense_Mutation SNP T T C TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr3:18419723T>C c.1514A>G c.(1513-1515)gAa>gGa p.E505G COAD 3 18419724 18419724 + Nonsense_Mutation SNP C C A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:18419724C>A c.1513G>T c.(1513-1515)Gaa>Taa p.E505* COAD 3 18436062 18436062 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:18436062C>T c.1098G>A c.(1096-1098)tcG>tcA p.S366S COAD 3 18436105 18436105 + Missense_Mutation SNP G G A TCGA-AA-3693-01A-01W-0900-09 TCGA-AA-3693-10A-01W-0900-09 g.chr3:18436105G>A c.1055C>T c.(1054-1056)cCt>cTt p.P352L COAD 3 18436156 18436156 + Missense_Mutation SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr3:18436156C>A c.1004G>T c.(1003-1005)aGa>aTa p.R335I COAD 3 18436199 18436199 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:18436199G>T c.961C>A c.(961-963)Ctg>Atg p.L321M COAD 3 18436275 18436275 + Silent SNP A A C TCGA-AA-A00Z-01A-01W-A005-10 TCGA-AA-A00Z-10A-01W-A005-10 g.chr3:18436275A>C c.885T>G c.(883-885)tcT>tcG p.S295S COAD 3 18436302 18436302 + Silent SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr3:18436302C>T c.858G>A c.(856-858)gcG>gcA p.A286A COAD 3 18457532 18457532 + Missense_Mutation SNP T T C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr3:18457532T>C c.482A>G c.(481-483)tAt>tGt p.Y161C COAD 3 18457575 18457575 + Missense_Mutation SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr3:18457575C>T c.439G>A c.(439-441)Gat>Aat p.D147N COAD 3 18462303 18462303 + Nonsense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr3:18462303G>A c.157C>T c.(157-159)Cag>Tag p.Q53* COADREAD 3 18390815 18390815 + Missense_Mutation SNP C C G TCGA-A6-6648-01A-11D-1771-10 TCGA-A6-6648-10A-01D-1771-10 g.chr3:18390815C>G c.2139G>C c.(2137-2139)gaG>gaC p.E713D COADREAD 3 18391030 18391030 + Nonsense_Mutation SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr3:18391030G>A c.1924C>T c.(1924-1926)Cga>Tga p.R642* COADREAD 3 18391077 18391077 + Frame_Shift_Del DEL G G - TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr3:18391077delG c.1877delC c.(1876-1878)ccafs p.P626fs COADREAD 3 18391148 18391148 + Silent SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr3:18391148C>T c.1806G>A c.(1804-1806)caG>caA p.Q602Q COADREAD 3 18393548 18393548 + Missense_Mutation SNP T T C TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr3:18393548T>C c.1715A>G c.(1714-1716)aAc>aGc p.N572S COADREAD 3 18393548 18393548 + Missense_Mutation SNP T T C TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr3:18393548T>C c.1715A>G c.(1714-1716)aAc>aGc p.N572S COADREAD 3 18393548 18393548 + Missense_Mutation SNP T T C TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr3:18393548T>C c.1715A>G c.(1714-1716)aAc>aGc p.N572S COADREAD 3 18393549 18393549 + Missense_Mutation SNP T T C TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr3:18393549T>C c.1714A>G c.(1714-1716)Aac>Gac p.N572D COADREAD 3 18419683 18419683 + Missense_Mutation SNP C C A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr3:18419683C>A c.1554G>T c.(1552-1554)aaG>aaT p.K518N COADREAD 3 18419722 18419722 + Silent SNP T T C TCGA-A6-5666-01A-01D-1650-10 TCGA-A6-5666-10A-01D-1650-10 g.chr3:18419722T>C c.1515A>G c.(1513-1515)gaA>gaG p.E505E COADREAD 3 18419722 18419722 + Silent SNP T T C TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr3:18419722T>C c.1515A>G c.(1513-1515)gaA>gaG p.E505E COADREAD 3 18419722 18419722 + Silent SNP T T C TCGA-DC-6158-01A-11D-1657-10 TCGA-DC-6158-10A-01D-1657-10 g.chr3:18419722T>C c.1515A>G c.(1513-1515)gaA>gaG p.E505E COADREAD 3 18419723 18419723 + Missense_Mutation SNP T T C TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr3:18419723T>C c.1514A>G c.(1513-1515)gAa>gGa p.E505G COADREAD 3 18419724 18419724 + Nonsense_Mutation SNP C C A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:18419724C>A c.1513G>T c.(1513-1515)Gaa>Taa p.E505* COADREAD 3 18436062 18436062 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:18436062C>T c.1098G>A c.(1096-1098)tcG>tcA p.S366S COADREAD 3 18436105 18436105 + Missense_Mutation SNP G G A TCGA-AA-3693-01A-01W-0900-09 TCGA-AA-3693-10A-01W-0900-09 g.chr3:18436105G>A c.1055C>T c.(1054-1056)cCt>cTt p.P352L COADREAD 3 18436156 18436156 + Missense_Mutation SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr3:18436156C>A c.1004G>T c.(1003-1005)aGa>aTa p.R335I COADREAD 3 18436199 18436199 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:18436199G>T c.961C>A c.(961-963)Ctg>Atg p.L321M COADREAD 3 18436275 18436275 + Silent SNP A A C TCGA-AA-A00Z-01A-01W-A005-10 TCGA-AA-A00Z-10A-01W-A005-10 g.chr3:18436275A>C c.885T>G c.(883-885)tcT>tcG p.S295S COADREAD 3 18436302 18436302 + Silent SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr3:18436302C>T c.858G>A c.(856-858)gcG>gcA p.A286A COADREAD 3 18438680 18438680 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:18438680C>A c.742G>T c.(742-744)Gat>Tat p.D248Y COADREAD 3 18457532 18457532 + Missense_Mutation SNP T T C TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr3:18457532T>C c.482A>G c.(481-483)tAt>tGt p.Y161C COADREAD 3 18457575 18457575 + Missense_Mutation SNP C C T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr3:18457575C>T c.439G>A c.(439-441)Gat>Aat p.D147N COADREAD 3 18462303 18462303 + Nonsense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr3:18462303G>A c.157C>T c.(157-159)Cag>Tag p.Q53* ESCA 3 18436270 18436270 + Missense_Mutation SNP C C T TCGA-LN-A49N-01A-11D-A247-09 TCGA-LN-A49N-10A-01D-A247-09 g.chr3:18436270C>T c.890G>A c.(889-891)cGg>cAg p.R297Q GBMLGG 3 18419766 18419766 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:18419766T>C c.1471A>G c.(1471-1473)Acc>Gcc p.T491A GBMLGG 3 18428052 18428052 + Nonsense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 g.chr3:18428052G>A c.1258C>T c.(1258-1260)Cag>Tag p.Q420* GBMLGG 3 18435971 18435971 + Missense_Mutation SNP C C A TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 g.chr3:18435971C>A c.1189G>T c.(1189-1191)Gct>Tct p.A397S GBMLGG 3 18457582 18457582 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:18457582G>A c.432C>T c.(430-432)taC>taT p.Y144Y GBMLGG 3 18462280 18462280 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:18462280C>T c.180G>A c.(178-180)tcG>tcA p.S60S HNSC 3 18390856 18390856 + Missense_Mutation SNP G G C TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 g.chr3:18390856G>C c.2098C>G c.(2098-2100)Ctc>Gtc p.L700V HNSC 3 18391087 18391087 + Missense_Mutation SNP G G A TCGA-CR-6477-01A-11D-1870-08 TCGA-CR-6477-10A-01D-1870-08 g.chr3:18391087G>A c.1867C>T c.(1867-1869)Cgg>Tgg p.R623W HNSC 3 18391090 18391090 + Missense_Mutation SNP G G T TCGA-CR-6473-01A-11D-1870-08 TCGA-CR-6473-10A-01D-1870-08 g.chr3:18391090G>T c.1864C>A c.(1864-1866)Cct>Act p.P622T HNSC 3 18393545 18393545 + Missense_Mutation SNP G G A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 g.chr3:18393545G>A c.1718C>T c.(1717-1719)gCg>gTg p.A573V HNSC 3 18458394 18458394 + Splice_Site SNP C C T TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr3:18458394C>T c.388G>A c.(388-390)Ggg>Agg p.G130R KIPAN 3 18390936 18390936 + Missense_Mutation SNP T T C TCGA-MH-A561-01A-11D-A26P-10 TCGA-MH-A561-10A-01D-A26P-10 g.chr3:18390936T>C c.2018A>G c.(2017-2019)gAg>gGg p.E673G KIRP 3 18390936 18390936 + Missense_Mutation SNP T T C TCGA-MH-A561-01A-11D-A26P-10 TCGA-MH-A561-10A-01D-A26P-10 g.chr3:18390936T>C c.2018A>G c.(2017-2019)gAg>gGg p.E673G LGG 3 18419766 18419766 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:18419766T>C c.1471A>G c.(1471-1473)Acc>Gcc p.T491A LGG 3 18428052 18428052 + Nonsense_Mutation SNP G G A TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 g.chr3:18428052G>A c.1258C>T c.(1258-1260)Cag>Tag p.Q420* LGG 3 18435971 18435971 + Missense_Mutation SNP C C A TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 g.chr3:18435971C>A c.1189G>T c.(1189-1191)Gct>Tct p.A397S LGG 3 18457582 18457582 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:18457582G>A c.432C>T c.(430-432)taC>taT p.Y144Y LGG 3 18462280 18462280 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:18462280C>T c.180G>A c.(178-180)tcG>tcA p.S60S LIHC 3 18390666 18390666 + Missense_Mutation SNP T T C TCGA-DD-AADR-01A-11D-A40R-10 TCGA-DD-AADR-10A-01D-A40U-10 g.chr3:18390666T>C c.2288A>G c.(2287-2289)gAc>gGc p.D763G LIHC 3 18393620 18393620 + Missense_Mutation SNP T T C TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr3:18393620T>C c.1643A>G c.(1642-1644)aAc>aGc p.N548S LIHC 3 18427925 18427925 + Missense_Mutation SNP G G T TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr3:18427925G>T c.1385C>A c.(1384-1386)cCc>cAc p.P462H LIHC 3 18436227 18436227 + Silent SNP A A T TCGA-DD-A11C-01A-11D-A12Z-10 TCGA-DD-A11C-11A-11D-A12Z-10 g.chr3:18436227A>T c.933T>A c.(931-933)ccT>ccA p.P311P LIHC 3 18438761 18438761 + Missense_Mutation SNP T T C TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr3:18438761T>C c.661A>G c.(661-663)Aac>Gac p.N221D LIHC 3 18456693 18456693 + Silent SNP T T C TCGA-G3-A25U-01A-11D-A16V-10 TCGA-G3-A25U-10A-01D-A16V-10 g.chr3:18456693T>C c.549A>G c.(547-549)caA>caG p.Q183Q LIHC 3 18458441 18458441 + Missense_Mutation SNP G G A TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr3:18458441G>A c.341C>T c.(340-342)gCa>gTa p.A114V LIHC 3 18462375 18462375 + Missense_Mutation SNP T T G TCGA-FV-A3R2-01A-11D-A22F-10 TCGA-FV-A3R2-11A-11D-A22F-10 g.chr3:18462375T>G c.85A>C c.(85-87)Aag>Cag p.K29Q LUAD 3 18390868 18390868 + Missense_Mutation SNP G G T TCGA-J2-8194-01A-11D-2238-08 TCGA-J2-8194-10A-01D-2238-08 g.chr3:18390868G>T c.2086C>A c.(2086-2088)Cag>Aag p.Q696K LUAD 3 18390907 18390907 + Missense_Mutation SNP C C A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chr3:18390907C>A c.2047G>T c.(2047-2049)Gac>Tac p.D683Y LUAD 3 18390976 18390976 + Missense_Mutation SNP G G T TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr3:18390976G>T c.1978C>A c.(1978-1980)Cag>Aag p.Q660K LUAD 3 18393628 18393628 + Silent SNP C C A TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr3:18393628C>A c.1635G>T c.(1633-1635)ctG>ctT p.L545L LUAD 3 18419677 18419677 + Silent SNP T T G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr3:18419677T>G c.1560A>C c.(1558-1560)gcA>gcC p.A520A LUAD 3 18427954 18427954 + Missense_Mutation SNP C C A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr3:18427954C>A c.1356G>T c.(1354-1356)ttG>ttT p.L452F LUAD 3 18427992 18427993 + Frame_Shift_Del DEL TT TT - TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr3:18427992_18427993delTT c.1317_1318delAA c.(1315-1320)gaaagafs p.R440fs LUAD 3 18436169 18436180 + In_Frame_Del DEL ACTGCTGGTTCA ACTGCTGGTTCA - TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 g.chr3:18436169_18436180delACTGCTGGTTCA c.980_991delTGAACCAGCAGT c.(979-993)ctgaaccagcagtat>cat p.327_331LNQQY>H LUAD 3 18436362 18436362 + Silent SNP A A G TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr3:18436362A>G c.798T>C c.(796-798)caT>caC p.H266H LUAD 3 18436366 18436366 + Missense_Mutation SNP T T C TCGA-L9-A443-01A-12D-A24D-08 TCGA-L9-A443-10A-01D-A24F-08 g.chr3:18436366T>C c.794A>G c.(793-795)aAt>aGt p.N265S LUAD 3 18457508 18457508 + Missense_Mutation SNP T T A TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr3:18457508T>A c.506A>T c.(505-507)cAg>cTg p.Q169L LUAD 3 18457572 18457572 + Missense_Mutation SNP C C A TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 g.chr3:18457572C>A c.442G>T c.(442-444)Gcc>Tcc p.A148S LUAD 3 18458546 18458546 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr3:18458546A>G c.236T>C c.(235-237)gTg>gCg p.V79A LUSC 3 18390710 18390710 + Missense_Mutation SNP C C G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr3:18390710C>G c.2244G>C c.(2242-2244)gaG>gaC p.E748D LUSC 3 18393544 18393544 + Silent SNP C C G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr3:18393544C>G c.1719G>C c.(1717-1719)gcG>gcC p.A573A LUSC 3 18427920 18427920 + Missense_Mutation SNP T T G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr3:18427920T>G c.1390A>C c.(1390-1392)Atc>Ctc p.I464L LUSC 3 18436276 18436276 + Missense_Mutation SNP G G A TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 g.chr3:18436276G>A c.884C>T c.(883-885)tCt>tTt p.S295F LUSC 3 18436276 18436276 + Missense_Mutation SNP G G C TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 g.chr3:18436276G>C c.884C>G c.(883-885)tCt>tGt p.S295C LUSC 3 18457567 18457567 + Silent SNP A A G TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 g.chr3:18457567A>G c.447T>C c.(445-447)ccT>ccC p.P149P OV 3 18390872 18390872 + Silent SNP C C T TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 g.chr3:18390872C>T c.2082G>A c.(2080-2082)caG>caA p.Q694Q OV 3 18390994 18390994 + Missense_Mutation SNP C C T TCGA-24-1849-01A-01W-0639-09 TCGA-24-1849-10A-01W-0639-09 g.chr3:18390994C>T c.1960G>A c.(1960-1962)Gaa>Aaa p.E654K OV 3 18391169 18391169 + Silent SNP C C T TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 g.chr3:18391169C>T c.1785G>A c.(1783-1785)caG>caA p.Q595Q OV 3 18428081 18428081 + Missense_Mutation SNP C C T TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 g.chr3:18428081C>T c.1229G>A c.(1228-1230)cGa>cAa p.R410Q OV 3 18436359 18436359 + Silent SNP G G C TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 g.chr3:18436359G>C c.801C>G c.(799-801)gtC>gtG p.V267V PAAD 3 18391133 18391135 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr3:18391133_18391135delCTG c.1819_1821delCAG c.(1819-1821)cagdel p.Q607del PAAD 3 18419793 18419793 + Nonsense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:18419793C>A c.1444G>T c.(1444-1446)Gaa>Taa p.E482* PAAD 3 18456684 18456684 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:18456684G>A c.558C>T c.(556-558)caC>caT p.H186H PAAD 3 18457596 18457596 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:18457596C>A c.418G>T c.(418-420)Gtt>Ttt p.V140F PAAD 3 18462353 18462353 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:18462353T>C c.107A>G c.(106-108)aAc>aGc p.N36S PCPG 3 18391140 18391160 + In_Frame_Del DEL TGCTGCTGCTGCTGTTGCTGT TGCTGCTGCTGCTGTTGCTGT - TCGA-WB-A81W-01A-11D-A35I-08 TCGA-WB-A81W-10A-01D-A35G-08 g.chr3:18391140_18391160delTGCTGCTGCTGCTGTTGCTGT c.1794_1814delACAGCAACAGCAGCAGCAGCA c.(1792-1815)caacagcaacagcagcagcagcag>cag p.598_605QQQQQQQQ>Q READ 3 18419722 18419722 + Silent SNP T T C TCGA-DC-6158-01A-11D-1657-10 TCGA-DC-6158-10A-01D-1657-10 g.chr3:18419722T>C c.1515A>G c.(1513-1515)gaA>gaG p.E505E READ 3 18438680 18438680 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:18438680C>A c.742G>T c.(742-744)Gat>Tat p.D248Y SARC 3 18390964 18390964 + Nonsense_Mutation SNP G G A TCGA-DX-A7ES-01A-31D-A38Z-09 TCGA-DX-A7ES-10A-01D-A38Z-09 g.chr3:18390964G>A c.1990C>T c.(1990-1992)Caa>Taa p.Q664* SARC 3 18457620 18457620 + Missense_Mutation SNP T T A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 g.chr3:18457620T>A c.394A>T c.(394-396)Atc>Ttc p.I132F SKCM 3 18390941 18390941 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr3:18390941G>A c.2013C>T c.(2011-2013)gaC>gaT p.D671D SKCM 3 18390942 18390942 + Missense_Mutation SNP T T G TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr3:18390942T>G c.2012A>C c.(2011-2013)gAc>gCc p.D671A SKCM 3 18390970 18390970 + Missense_Mutation SNP A A C TCGA-FR-A44A-06A-11D-A24R-08 TCGA-FR-A44A-10A-01D-A24R-08 g.chr3:18390970A>C c.1984T>G c.(1984-1986)Ttc>Gtc p.F662V SKCM 3 18390985 18390985 + Missense_Mutation SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr3:18390985C>T c.1969G>A c.(1969-1971)Gga>Aga p.G657R SKCM 3 18391011 18391011 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:18391011C>T c.1943G>A c.(1942-1944)cGa>cAa p.R648Q SKCM 3 18391023 18391023 + Missense_Mutation SNP T T G TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr3:18391023T>G c.1931A>C c.(1930-1932)aAg>aCg p.K644T SKCM 3 18391025 18391025 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr3:18391025C>T c.1929G>A c.(1927-1929)caG>caA p.Q643Q SKCM 3 18391067 18391067 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:18391067G>A c.1887C>T c.(1885-1887)ccC>ccT p.P629P SKCM 3 18391078 18391078 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr3:18391078G>A c.1876C>T c.(1876-1878)Cca>Tca p.P626S SKCM 3 18393501 18393501 + Missense_Mutation SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr3:18393501G>A c.1762C>T c.(1762-1764)Cca>Tca p.P588S SKCM 3 18393507 18393507 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr3:18393507G>A c.1756C>T c.(1756-1758)Cat>Tat p.H586Y SKCM 3 18393508 18393508 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr3:18393508G>A c.1755C>T c.(1753-1755)atC>atT p.I585I SKCM 3 18393610 18393610 + Missense_Mutation SNP C C T TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 g.chr3:18393610C>T c.1653G>A c.(1651-1653)atG>atA p.M551I SKCM 3 18393642 18393642 + Missense_Mutation SNP C C T TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr3:18393642C>T c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K SKCM 3 18393664 18393664 + Silent SNP G G A TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr3:18393664G>A c.1599C>T c.(1597-1599)cgC>cgT p.R533R SKCM 3 18393686 18393686 + Splice_Site SNP C C G TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr3:18393686C>G c.1577G>C c.(1576-1578)gGa>gCa p.G526A SKCM 3 18419777 18419777 + Missense_Mutation SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr3:18419777G>T c.1460C>A c.(1459-1461)cCa>cAa p.P487Q SKCM 3 18419810 18419810 + Missense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr3:18419810G>A c.1427C>T c.(1426-1428)aCa>aTa p.T476I SKCM 3 18427891 18427891 + Splice_Site SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr3:18427891C>T c.1419G>A c.(1417-1419)caG>caA p.Q473Q SKCM 3 18428094 18428094 + Frame_Shift_Del DEL A A - TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:18428094delA c.1216delT c.(1216-1218)tcafs p.S406fs SKCM 3 18436006 18436006 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr3:18436006C>T c.1154G>A c.(1153-1155)cGa>cAa p.R385Q SKCM 3 18436089 18436089 + Missense_Mutation SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr3:18436089C>T c.1071G>A c.(1069-1071)atG>atA p.M357I SKCM 3 18436161 18436161 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 g.chr3:18436161C>T c.999G>A c.(997-999)gtG>gtA p.V333V SKCM 3 18436211 18436211 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 g.chr3:18436211C>T c.949G>A c.(949-951)Gtc>Atc p.V317I SKCM 3 18436239 18436239 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:18436239G>A c.921C>T c.(919-921)ctC>ctT p.L307L SKCM 3 18436239 18436239 + Silent SNP G G A TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr3:18436239G>A c.921C>T c.(919-921)ctC>ctT p.L307L SKCM 3 18438769 18438769 + Missense_Mutation SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr3:18438769G>A c.653C>T c.(652-654)tCc>tTc p.S218F SKCM 3 18456703 18456703 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:18456703G>A c.539C>T c.(538-540)cCt>cTt p.P180L SKCM 3 18458484 18458484 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:18458484G>A c.298C>T c.(298-300)Ctg>Ttg p.L100L SKCM 3 18462335 18462335 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 g.chr3:18462335C>T c.125G>A c.(124-126)aGa>aAa p.R42K SKCM 3 18462346 18462346 + Silent SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr3:18462346G>A c.114C>T c.(112-114)agC>agT p.S38S SKCM 3 18462396 18462396 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:18462396C>T c.64G>A c.(64-66)Gat>Aat p.D22N

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 3 18427954 18427954 single base substitution C T synonymous_variant L452L 1356G>A BRCA-EU 3 18383154 18383154 single base substitution G A downstream_gene_variant BRCA-EU 3 18383301 18383301 single base substitution G C downstream_gene_variant BRCA-EU 3 18383414 18383414 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 18383598 18383598 single base substitution A C downstream_gene_variant BRCA-EU 3 18384280 18384280 single base substitution G C downstream_gene_variant BRCA-EU 3 18385491 18385491 single base substitution C G downstream_gene_variant BRCA-EU 3 18387646 18387646 single base substitution A G 3_prime_UTR_variant BRCA-EU 3 18387646 18387646 single base substitution A G downstream_gene_variant BRCA-EU 3 18387969 18387969 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 18387969 18387969 single base substitution G A downstream_gene_variant BRCA-EU 3 18388995 18388995 single base substitution C A 3_prime_UTR_variant BRCA-EU 3 18388995 18388995 single base substitution C A downstream_gene_variant BRCA-EU 3 18390770 18390770 single base substitution C G downstream_gene_variant BRCA-EU 3 18390770 18390770 single base substitution C G exon_variant BRCA-EU 3 18390770 18390770 single base substitution C G missense_variant L728F 2184G>C BRCA-EU 3 18390770 18390770 single base substitution C G missense_variant L760F 2280G>C BRCA-EU 3 18391989 18391989 single base substitution T G downstream_gene_variant BRCA-EU 3 18391989 18391989 single base substitution T G exon_variant BRCA-EU 3 18391989 18391989 single base substitution T G intron_variant BRCA-EU 3 18392040 18392040 single base substitution G T downstream_gene_variant BRCA-EU 3 18392040 18392040 single base substitution G T exon_variant BRCA-EU 3 18392040 18392040 single base substitution G T intron_variant BRCA-EU 3 18393506 18393506 single base substitution T C exon_variant BRCA-EU 3 18393506 18393506 single base substitution T C missense_variant H586R 1757A>G BRCA-EU 3 18393506 18393506 single base substitution T C upstream_gene_variant BRCA-EU 3 18396037 18396037 insertion of <=200bp - T intron_variant BRCA-EU 3 18396037 18396037 insertion of <=200bp - T upstream_gene_variant BRCA-EU 3 18396984 18396984 single base substitution A C intron_variant BRCA-EU 3 18396984 18396984 single base substitution A C upstream_gene_variant BRCA-EU 3 18398811 18398811 single base substitution T A intron_variant BRCA-EU 3 18398811 18398811 single base substitution T A upstream_gene_variant BRCA-EU 3 18400067 18400067 single base substitution T C intron_variant BRCA-EU 3 18400364 18400364 single base substitution C T intron_variant BRCA-EU 3 18400959 18400959 single base substitution T C intron_variant BRCA-EU 3 18401196 18401196 single base substitution C A intron_variant BRCA-EU 3 18401300 18401300 insertion of <=200bp - A intron_variant BRCA-EU 3 18401360 18401360 single base substitution G C intron_variant BRCA-EU 3 18402362 18402362 single base substitution G T intron_variant BRCA-EU 3 18403531 18403531 single base substitution G A intron_variant BRCA-EU 3 18405259 18405259 single base substitution G A intron_variant BRCA-EU 3 18406165 18406165 single base substitution C T intron_variant BRCA-EU 3 18407354 18407354 single base substitution C G intron_variant BRCA-EU 3 18408146 18408146 insertion of <=200bp - TGTACTGA intron_variant BRCA-EU 3 18408574 18408574 single base substitution C A intron_variant BRCA-EU 3 18409966 18409966 single base substitution C A intron_variant BRCA-EU 3 18410161 18410161 single base substitution C A intron_variant BRCA-EU 3 18410654 18410654 single base substitution T A intron_variant BRCA-EU 3 18410955 18410955 deletion of <=200bp T - intron_variant BRCA-EU 3 18412595 18412595 single base substitution G C intron_variant BRCA-EU 3 18412660 18412660 insertion of <=200bp - A intron_variant BRCA-EU 3 18414157 18414157 single base substitution C G intron_variant BRCA-EU 3 18415083 18415083 single base substitution C T intron_variant BRCA-EU 3 18415085 18415085 single base substitution T A intron_variant BRCA-EU 3 18416349 18416349 single base substitution C T intron_variant BRCA-EU 3 18416946 18416946 single base substitution G C intron_variant BRCA-EU 3 18417101 18417101 single base substitution T C intron_variant BRCA-EU 3 18417961 18417961 deletion of <=200bp A - intron_variant BRCA-EU 3 18418085 18418085 single base substitution G T intron_variant BRCA-EU 3 18418531 18418531 single base substitution C T intron_variant BRCA-EU 3 18418829 18418829 single base substitution T C intron_variant BRCA-EU 3 18419762 18419762 single base substitution A T exon_variant BRCA-EU 3 18419762 18419762 single base substitution A T missense_variant M492K 1475T>A BRCA-EU 3 18420427 18420427 single base substitution G A intron_variant BRCA-EU 3 18420427 18420427 single base substitution G A upstream_gene_variant BRCA-EU 3 18420584 18420584 single base substitution C T intron_variant BRCA-EU 3 18420584 18420584 single base substitution C T upstream_gene_variant BRCA-EU 3 18421335 18421335 single base substitution C A intron_variant BRCA-EU 3 18421335 18421335 single base substitution C A upstream_gene_variant BRCA-EU 3 18421690 18421690 single base substitution G A intron_variant BRCA-EU 3 18421690 18421690 single base substitution G A upstream_gene_variant BRCA-EU 3 18421863 18421863 single base substitution C G intron_variant BRCA-EU 3 18421863 18421863 single base substitution C G upstream_gene_variant BRCA-EU 3 18422055 18422055 single base substitution T A intron_variant BRCA-EU 3 18422055 18422055 single base substitution T A upstream_gene_variant BRCA-EU 3 18422999 18422999 single base substitution C T intron_variant BRCA-EU 3 18422999 18422999 single base substitution C T upstream_gene_variant BRCA-EU 3 18423524 18423524 single base substitution A T intron_variant BRCA-EU 3 18423524 18423524 single base substitution A T upstream_gene_variant BRCA-EU 3 18423901 18423901 single base substitution C T intron_variant BRCA-EU 3 18423901 18423901 single base substitution C T upstream_gene_variant BRCA-EU 3 18425216 18425216 single base substitution C T intron_variant BRCA-EU 3 18425687 18425687 single base substitution A C intron_variant BRCA-EU 3 18427538 18427538 single base substitution C T intron_variant BRCA-EU 3 18428195 18428195 single base substitution A G intron_variant BRCA-EU 3 18430838 18430838 deletion of <=200bp A - intron_variant BRCA-EU 3 18431666 18431666 single base substitution C G intron_variant BRCA-EU 3 18434707 18434707 single base substitution A G downstream_gene_variant BRCA-EU 3 18434707 18434707 single base substitution A G intron_variant BRCA-EU 3 18436302 18436302 single base substitution C T downstream_gene_variant BRCA-EU 3 18436302 18436302 single base substitution C T synonymous_variant A286A 858G>A BRCA-EU 3 18436309 18436309 single base substitution G C downstream_gene_variant BRCA-EU 3 18436309 18436309 single base substitution G C missense_variant S284C 851C>G BRCA-EU 3 18436831 18436831 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 18436831 18436831 deletion of <=200bp A - intron_variant BRCA-EU 3 18437072 18437072 single base substitution C G downstream_gene_variant BRCA-EU 3 18437072 18437072 single base substitution C G intron_variant BRCA-EU 3 18437088 18437088 single base substitution G T downstream_gene_variant BRCA-EU 3 18437088 18437088 single base substitution G T intron_variant BRCA-EU 3 18437160 18437160 single base substitution C T downstream_gene_variant BRCA-EU 3 18437160 18437160 single base substitution C T intron_variant BRCA-EU 3 18437319 18437319 single base substitution C G downstream_gene_variant BRCA-EU 3 18437319 18437319 single base substitution C G intron_variant BRCA-EU 3 18437321 18437321 single base substitution C T downstream_gene_variant BRCA-EU 3 18437321 18437321 single base substitution C T intron_variant BRCA-EU 3 18437378 18437378 single base substitution G A downstream_gene_variant BRCA-EU 3 18437378 18437378 single base substitution G A intron_variant BRCA-EU 3 18437456 18437456 single base substitution G C downstream_gene_variant BRCA-EU 3 18437456 18437456 single base substitution G C intron_variant BRCA-EU 3 18437725 18437725 single base substitution C T downstream_gene_variant BRCA-EU 3 18437725 18437725 single base substitution C T intron_variant BRCA-EU 3 18440219 18440219 deletion of <=200bp T - intron_variant BRCA-EU 3 18441098 18441098 deletion of <=200bp C - intron_variant BRCA-EU 3 18442685 18442685 single base substitution C T intron_variant BRCA-EU 3 18442792 18442792 deletion of <=200bp T - intron_variant BRCA-EU 3 18442805 18442805 single base substitution G T intron_variant BRCA-EU 3 18444438 18444438 single base substitution G C intron_variant BRCA-EU 3 18444741 18444741 single base substitution C T intron_variant BRCA-EU 3 18445153 18445153 single base substitution A C intron_variant BRCA-EU 3 18445388 18445388 single base substitution C T intron_variant BRCA-EU 3 18445864 18445864 single base substitution T C intron_variant BRCA-EU 3 18447005 18447005 single base substitution C A intron_variant BRCA-EU 3 18447052 18447052 single base substitution C T intron_variant BRCA-EU 3 18447709 18447709 single base substitution G T downstream_gene_variant BRCA-EU 3 18447709 18447709 single base substitution G T intron_variant BRCA-EU 3 18447876 18447876 single base substitution T C downstream_gene_variant BRCA-EU 3 18447876 18447876 single base substitution T C intron_variant BRCA-EU 3 18448530 18448530 single base substitution A G downstream_gene_variant BRCA-EU 3 18448530 18448530 single base substitution A G intron_variant BRCA-EU 3 18448890 18448890 single base substitution C T downstream_gene_variant BRCA-EU 3 18448890 18448890 single base substitution C T intron_variant BRCA-EU 3 18449477 18449477 single base substitution C T downstream_gene_variant BRCA-EU 3 18449477 18449477 single base substitution C T intron_variant BRCA-EU 3 18451255 18451255 single base substitution C T downstream_gene_variant BRCA-EU 3 18451255 18451255 single base substitution C T intron_variant BRCA-EU 3 18451526 18451526 single base substitution A G downstream_gene_variant BRCA-EU 3 18451526 18451526 single base substitution A G intron_variant BRCA-EU 3 18452307 18452307 single base substitution A C downstream_gene_variant BRCA-EU 3 18452307 18452307 single base substitution A C exon_variant BRCA-EU 3 18452307 18452307 single base substitution A C intron_variant BRCA-EU 3 18455603 18455603 single base substitution A C downstream_gene_variant BRCA-EU 3 18455603 18455603 single base substitution A C intron_variant BRCA-EU 3 18456171 18456171 single base substitution T C downstream_gene_variant BRCA-EU 3 18456171 18456171 single base substitution T C intron_variant BRCA-EU 3 18456665 18456665 single base substitution G A downstream_gene_variant BRCA-EU 3 18456665 18456665 single base substitution G A exon_variant BRCA-EU 3 18456665 18456665 single base substitution G A synonymous_variant L193L 577C>T BRCA-EU 3 18457405 18457405 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 18457405 18457405 deletion of <=200bp A - intron_variant BRCA-EU 3 18458136 18458136 single base substitution G A downstream_gene_variant BRCA-EU 3 18458136 18458136 single base substitution G A intron_variant BRCA-EU 3 18458136 18458136 single base substitution G A upstream_gene_variant BRCA-EU 3 18458657 18458657 single base substitution G C downstream_gene_variant BRCA-EU 3 18458657 18458657 single base substitution G C exon_variant BRCA-EU 3 18458657 18458657 single base substitution G C intron_variant BRCA-EU 3 18458657 18458657 single base substitution G C upstream_gene_variant BRCA-EU 3 18458843 18458849 deletion of <=200bp GAATGCA - downstream_gene_variant BRCA-EU 3 18458843 18458849 deletion of <=200bp GAATGCA - exon_variant BRCA-EU 3 18458843 18458849 deletion of <=200bp GAATGCA - intron_variant BRCA-EU 3 18458843 18458849 deletion of <=200bp GAATGCA - upstream_gene_variant BRCA-EU 3 18459521 18459521 single base substitution G A downstream_gene_variant BRCA-EU 3 18459521 18459521 single base substitution G A intron_variant BRCA-EU 3 18459521 18459521 single base substitution G A upstream_gene_variant BRCA-EU 3 18460117 18460117 single base substitution C T downstream_gene_variant BRCA-EU 3 18460117 18460117 single base substitution C T intron_variant BRCA-EU 3 18460117 18460117 single base substitution C T upstream_gene_variant BRCA-EU 3 18462574 18462574 single base substitution C A 5_prime_UTR_variant BRCA-EU 3 18462574 18462574 single base substitution C A intron_variant BRCA-EU 3 18462574 18462574 single base substitution C A upstream_gene_variant BRCA-EU 3 18464879 18464879 single base substitution C T intron_variant BRCA-EU 3 18464879 18464879 single base substitution C T upstream_gene_variant BRCA-EU 3 18465124 18465124 single base substitution C G 5_prime_UTR_variant BRCA-EU 3 18465124 18465124 single base substitution C G intron_variant BRCA-EU 3 18465124 18465124 single base substitution C G upstream_gene_variant BRCA-EU 3 18466043 18466043 single base substitution G A 5_prime_UTR_variant BRCA-EU 3 18466043 18466043 single base substitution G A intron_variant BRCA-EU 3 18466043 18466043 single base substitution G A upstream_gene_variant BRCA-EU 3 18467316 18467316 single base substitution G C intron_variant BRCA-EU 3 18467316 18467316 single base substitution G C upstream_gene_variant BRCA-EU 3 18467317 18467317 insertion of <=200bp - GGGCAGGAC intron_variant BRCA-EU 3 18467317 18467317 insertion of <=200bp - GGGCAGGAC upstream_gene_variant BRCA-EU 3 18467336 18467336 single base substitution G A intron_variant BRCA-EU 3 18467336 18467336 single base substitution G A upstream_gene_variant BRCA-EU 3 18468236 18468236 single base substitution C A intron_variant BRCA-EU 3 18468236 18468236 single base substitution C A upstream_gene_variant BRCA-EU 3 18469657 18469657 single base substitution G T intron_variant BRCA-EU 3 18469657 18469657 single base substitution G T upstream_gene_variant BRCA-EU 3 18470490 18470490 insertion of <=200bp - T intron_variant BRCA-EU 3 18470490 18470490 insertion of <=200bp - T upstream_gene_variant BRCA-EU 3 18470640 18470640 single base substitution G A intron_variant BRCA-EU 3 18470640 18470640 single base substitution G A upstream_gene_variant BRCA-EU 3 18471215 18471215 single base substitution T C intron_variant BRCA-EU 3 18471215 18471215 single base substitution T C upstream_gene_variant BRCA-EU 3 18471231 18471231 single base substitution C G intron_variant BRCA-EU 3 18471231 18471231 single base substitution C G upstream_gene_variant BRCA-EU 3 18472710 18472710 single base substitution G A intron_variant BRCA-EU 3 18472748 18472748 single base substitution C G intron_variant BRCA-EU 3 18475876 18475876 insertion of <=200bp - TA intron_variant BRCA-EU 3 18476063 18476063 single base substitution A G intron_variant BRCA-EU 3 18476132 18476132 single base substitution C G intron_variant BRCA-EU 3 18480095 18480095 single base substitution A T 5_prime_UTR_variant BRCA-EU 3 18480095 18480095 single base substitution A T exon_variant BRCA-EU 3 18480095 18480095 single base substitution A T intron_variant BRCA-EU 3 18480095 18480095 single base substitution A T upstream_gene_variant BRCA-EU 3 18480096 18480096 single base substitution C T 5_prime_UTR_variant BRCA-EU 3 18480096 18480096 single base substitution C T exon_variant BRCA-EU 3 18480096 18480096 single base substitution C T intron_variant BRCA-EU 3 18480096 18480096 single base substitution C T upstream_gene_variant BRCA-EU 3 18480600 18480600 single base substitution C A intron_variant BRCA-EU 3 18480600 18480600 single base substitution C A upstream_gene_variant BRCA-EU 3 18481149 18481149 single base substitution A G intron_variant BRCA-EU 3 18481149 18481149 single base substitution A G upstream_gene_variant BRCA-EU 3 18481326 18481326 single base substitution C T intron_variant BRCA-EU 3 18481326 18481326 single base substitution C T upstream_gene_variant BRCA-EU 3 18481456 18481456 single base substitution T A intron_variant BRCA-EU 3 18481456 18481456 single base substitution T A upstream_gene_variant BRCA-EU 3 18481778 18481778 single base substitution A T intron_variant BRCA-EU 3 18481778 18481778 single base substitution A T upstream_gene_variant BRCA-EU 3 18481981 18481981 single base substitution G A intron_variant BRCA-EU 3 18481981 18481981 single base substitution G A upstream_gene_variant BRCA-EU 3 18482874 18482874 single base substitution C T intron_variant BRCA-EU 3 18482874 18482874 single base substitution C T upstream_gene_variant BRCA-EU 3 18484987 18484987 single base substitution C A intron_variant BRCA-EU 3 18484987 18484987 single base substitution C A upstream_gene_variant BRCA-EU 3 18485429 18485429 single base substitution A G intron_variant BRCA-EU 3 18486284 18486284 single base substitution T C 5_prime_UTR_variant BRCA-EU 3 18486284 18486284 single base substitution T C intron_variant BRCA-EU 3 18486341 18486341 single base substitution C T 5_prime_UTR_variant BRCA-EU 3 18486341 18486341 single base substitution C T intron_variant BRCA-EU 3 18487328 18487328 single base substitution G A upstream_gene_variant BRCA-EU 3 18487437 18487437 single base substitution T A upstream_gene_variant BRCA-EU 3 18488293 18488293 single base substitution G A upstream_gene_variant BRCA-EU 3 18488991 18488991 single base substitution C T upstream_gene_variant BRCA-EU 3 18489979 18489979 single base substitution G T upstream_gene_variant BRCA-EU 3 18490201 18490201 insertion of <=200bp - T upstream_gene_variant BRCA-FR 3 18388995 18388995 single base substitution C A 3_prime_UTR_variant BRCA-FR 3 18388995 18388995 single base substitution C A downstream_gene_variant BRCA-FR 3 18401196 18401196 single base substitution C A intron_variant BRCA-FR 3 18401360 18401360 single base substitution G C intron_variant BRCA-FR 3 18403531 18403531 single base substitution G A intron_variant BRCA-FR 3 18416946 18416946 single base substitution G C intron_variant BRCA-FR 3 18417101 18417101 single base substitution T C intron_variant BRCA-FR 3 18418531 18418531 single base substitution C T intron_variant BRCA-FR 3 18420137 18420137 single base substitution C T intron_variant BRCA-FR 3 18420137 18420137 single base substitution C T upstream_gene_variant BRCA-FR 3 18444660 18444660 single base substitution C T intron_variant BRCA-FR 3 18445388 18445388 single base substitution C T intron_variant BRCA-FR 3 18458136 18458136 single base substitution G A downstream_gene_variant BRCA-FR 3 18458136 18458136 single base substitution G A intron_variant BRCA-FR 3 18458136 18458136 single base substitution G A upstream_gene_variant BRCA-FR 3 18458657 18458657 single base substitution G C downstream_gene_variant BRCA-FR 3 18458657 18458657 single base substitution G C exon_variant BRCA-FR 3 18458657 18458657 single base substitution G C intron_variant BRCA-FR 3 18458657 18458657 single base substitution G C upstream_gene_variant BRCA-FR 3 18472336 18472336 single base substitution G A intron_variant BRCA-FR 3 18476126 18476126 single base substitution C T intron_variant BRCA-FR 3 18484987 18484987 single base substitution C A intron_variant BRCA-FR 3 18484987 18484987 single base substitution C A upstream_gene_variant BRCA-FR 3 18487328 18487328 single base substitution G A upstream_gene_variant BRCA-FR 3 18488991 18488991 single base substitution C T upstream_gene_variant BRCA-UK 3 18392040 18392040 single base substitution G T downstream_gene_variant BRCA-UK 3 18392040 18392040 single base substitution G T exon_variant BRCA-UK 3 18392040 18392040 single base substitution G T intron_variant BRCA-UK 3 18398811 18398811 single base substitution T A intron_variant BRCA-UK 3 18398811 18398811 single base substitution T A upstream_gene_variant BRCA-UK 3 18423214 18423214 single base substitution G C intron_variant BRCA-UK 3 18423214 18423214 single base substitution G C upstream_gene_variant BRCA-UK 3 18423524 18423524 single base substitution A T intron_variant BRCA-UK 3 18423524 18423524 single base substitution A T upstream_gene_variant BRCA-UK 3 18436309 18436309 single base substitution G C downstream_gene_variant BRCA-UK 3 18436309 18436309 single base substitution G C missense_variant S284C 851C>G BRCA-UK 3 18444438 18444438 single base substitution G C intron_variant BRCA-UK 3 18452425 18452425 single base substitution G C downstream_gene_variant BRCA-UK 3 18452425 18452425 single base substitution G C exon_variant BRCA-UK 3 18452425 18452425 single base substitution G C intron_variant BRCA-UK 3 18480095 18480095 single base substitution A T 5_prime_UTR_variant BRCA-UK 3 18480095 18480095 single base substitution A T exon_variant BRCA-UK 3 18480095 18480095 single base substitution A T intron_variant BRCA-UK 3 18480095 18480095 single base substitution A T upstream_gene_variant BRCA-UK 3 18480096 18480096 single base substitution C T 5_prime_UTR_variant BRCA-UK 3 18480096 18480096 single base substitution C T exon_variant BRCA-UK 3 18480096 18480096 single base substitution C T intron_variant BRCA-UK 3 18480096 18480096 single base substitution C T upstream_gene_variant BRCA-UK 3 18481491 18481491 single base substitution C G intron_variant BRCA-UK 3 18481491 18481491 single base substitution C G upstream_gene_variant BRCA-US 3 18390766 18390766 single base substitution C T downstream_gene_variant BRCA-US 3 18390766 18390766 single base substitution C T exon_variant BRCA-US 3 18390766 18390766 single base substitution C T missense_variant E730K 2188G>A BRCA-US 3 18390766 18390766 single base substitution C T missense_variant E762K 2284G>A BRCA-US 3 18390811 18390811 single base substitution C T downstream_gene_variant BRCA-US 3 18390811 18390811 single base substitution C T exon_variant BRCA-US 3 18390811 18390811 single base substitution C T missense_variant D715N 2143G>A BRCA-US 3 18390811 18390811 single base substitution C T missense_variant D747N 2239G>A BRCA-US 3 18392819 18392819 single base substitution C T downstream_gene_variant BRCA-US 3 18392819 18392819 single base substitution C T exon_variant BRCA-US 3 18392819 18392819 single base substitution C T intron_variant BRCA-US 3 18392819 18392819 single base substitution C T missense_variant G621S 1861G>A BRCA-US 3 18427909 18427909 single base substitution T G synonymous_variant P467P 1401A>C BRCA-US 3 18436023 18436023 single base substitution T C downstream_gene_variant BRCA-US 3 18436023 18436023 single base substitution T C synonymous_variant V379V 1137A>G BRCA-US 3 18436217 18436217 single base substitution G T downstream_gene_variant BRCA-US 3 18436217 18436217 single base substitution G T missense_variant Q315K 943C>A BRCA-US 3 18436303 18436303 single base substitution G A downstream_gene_variant BRCA-US 3 18436303 18436303 single base substitution G A missense_variant A286V 857C>T BRCA-US 3 18438674 18438674 single base substitution T C downstream_gene_variant BRCA-US 3 18438674 18438674 single base substitution T C missense_variant M250V 748A>G BRCA-US 3 18438718 18438718 single base substitution T A downstream_gene_variant BRCA-US 3 18438718 18438718 single base substitution T A exon_variant BRCA-US 3 18438718 18438718 single base substitution T A missense_variant E235V 704A>T BRCA-US 3 18438719 18438719 single base substitution C G downstream_gene_variant BRCA-US 3 18438719 18438719 single base substitution C G exon_variant BRCA-US 3 18438719 18438719 single base substitution C G missense_variant E235Q 703G>C BRCA-US 3 18456713 18456713 single base substitution C G downstream_gene_variant BRCA-US 3 18456713 18456713 single base substitution C G exon_variant BRCA-US 3 18456713 18456713 single base substitution C G missense_variant E177Q 529G>C BRCA-US 3 18458465 18458465 single base substitution A T downstream_gene_variant BRCA-US 3 18458465 18458465 single base substitution A T exon_variant BRCA-US 3 18458465 18458465 single base substitution A T missense_variant L106H 317T>A BRCA-US 3 18458465 18458465 single base substitution A T upstream_gene_variant BTCA-JP 3 18390740 18390740 single base substitution G T downstream_gene_variant BTCA-JP 3 18390740 18390740 single base substitution G T exon_variant BTCA-JP 3 18390740 18390740 single base substitution G T missense_variant N738K 2214C>A BTCA-JP 3 18390740 18390740 single base substitution G T missense_variant N770K 2310C>A BTCA-JP 3 18393462 18393462 single base substitution G T exon_variant BTCA-JP 3 18393462 18393462 single base substitution G T intron_variant BTCA-JP 3 18393462 18393462 single base substitution G T upstream_gene_variant BTCA-JP 3 18438900 18438900 single base substitution G C intron_variant BTCA-JP 3 18457516 18457516 single base substitution C A downstream_gene_variant BTCA-JP 3 18457516 18457516 single base substitution C A exon_variant BTCA-JP 3 18457516 18457516 single base substitution C A missense_variant L166F 498G>T BTCA-JP 3 18459148 18459148 single base substitution A C 3_prime_UTR_variant BTCA-JP 3 18459148 18459148 single base substitution A C downstream_gene_variant BTCA-JP 3 18459148 18459148 single base substitution A C intron_variant BTCA-JP 3 18459148 18459148 single base substitution A C upstream_gene_variant CESC-US 3 18427918 18427918 single base substitution G C missense_variant I464M 1392C>G CLLE-ES 3 18399055 18399055 single base substitution T A intron_variant CLLE-ES 3 18399055 18399055 single base substitution T A upstream_gene_variant CLLE-ES 3 18399730 18399730 single base substitution T A intron_variant CLLE-ES 3 18404992 18404992 single base substitution C T intron_variant CLLE-ES 3 18408226 18408226 single base substitution A G intron_variant CLLE-ES 3 18445197 18445197 single base substitution C T intron_variant CLLE-ES 3 18453953 18453953 single base substitution G T downstream_gene_variant CLLE-ES 3 18453953 18453953 single base substitution G T intron_variant CLLE-ES 3 18455186 18455186 single base substitution G A downstream_gene_variant CLLE-ES 3 18455186 18455186 single base substitution G A intron_variant CLLE-ES 3 18463489 18463489 single base substitution C A intron_variant CLLE-ES 3 18463489 18463489 single base substitution C A upstream_gene_variant CLLE-ES 3 18491314 18491314 single base substitution A G upstream_gene_variant COAD-US 3 18390815 18390815 single base substitution C G downstream_gene_variant COAD-US 3 18390815 18390815 single base substitution C G exon_variant COAD-US 3 18390815 18390815 single base substitution C G missense_variant E713D 2139G>C COAD-US 3 18390815 18390815 single base substitution C G missense_variant E745D 2235G>C COAD-US 3 18391030 18391030 single base substitution G A downstream_gene_variant COAD-US 3 18391030 18391030 single base substitution G A exon_variant COAD-US 3 18391030 18391030 single base substitution G A stop_gained R642* 1924C>T COAD-US 3 18391030 18391030 single base substitution G A stop_gained R674* 2020C>T COAD-US 3 18391077 18391077 deletion of <=200bp G - downstream_gene_variant COAD-US 3 18391077 18391077 deletion of <=200bp G - exon_variant COAD-US 3 18391077 18391077 deletion of <=200bp G - frameshift_variant P626 COAD-US 3 18391077 18391077 deletion of <=200bp G - frameshift_variant P658 COAD-US 3 18391148 18391148 single base substitution C T downstream_gene_variant COAD-US 3 18391148 18391148 single base substitution C T exon_variant COAD-US 3 18391148 18391148 single base substitution C T synonymous_variant Q602Q 1806G>A COAD-US 3 18391148 18391148 single base substitution C T synonymous_variant Q634Q 1902G>A COAD-US 3 18419683 18419683 single base substitution C A exon_variant COAD-US 3 18419683 18419683 single base substitution C A missense_variant K518N 1554G>T COAD-US 3 18427924 18427924 single base substitution G T synonymous_variant P462P 1386C>A COAD-US 3 18436199 18436199 single base substitution G T downstream_gene_variant COAD-US 3 18436199 18436199 single base substitution G T missense_variant L321M 961C>A COAD-US 3 18462303 18462303 single base substitution G A downstream_gene_variant COAD-US 3 18462303 18462303 single base substitution G A exon_variant COAD-US 3 18462303 18462303 single base substitution G A stop_gained Q53* 157C>T COAD-US 3 18462303 18462303 single base substitution G A upstream_gene_variant COCA-CN 3 18390600 18390600 single base substitution T C 3_prime_UTR_variant COCA-CN 3 18390600 18390600 single base substitution T C downstream_gene_variant COCA-CN 3 18390600 18390600 single base substitution T C exon_variant COCA-CN 3 18436205 18436205 single base substitution G A downstream_gene_variant COCA-CN 3 18436205 18436205 single base substitution G A stop_gained Q319* 955C>T COCA-CN 3 18438502 18438502 single base substitution G T downstream_gene_variant COCA-CN 3 18438502 18438502 single base substitution G T intron_variant COCA-CN 3 18456572 18456572 single base substitution C A downstream_gene_variant COCA-CN 3 18456572 18456572 single base substitution C A exon_variant COCA-CN 3 18456572 18456572 single base substitution C A intron_variant COCA-CN 3 18457613 18457613 single base substitution A G downstream_gene_variant COCA-CN 3 18457613 18457613 single base substitution A G exon_variant COCA-CN 3 18457613 18457613 single base substitution A G missense_variant V134A 401T>C COCA-CN 3 18458449 18458449 single base substitution G A downstream_gene_variant COCA-CN 3 18458449 18458449 single base substitution G A exon_variant COCA-CN 3 18458449 18458449 single base substitution G A synonymous_variant I111I 333C>T COCA-CN 3 18458449 18458449 single base substitution G A upstream_gene_variant COCA-CN 3 18458559 18458559 single base substitution G A downstream_gene_variant COCA-CN 3 18458559 18458559 single base substitution G A exon_variant COCA-CN 3 18458559 18458559 single base substitution G A missense_variant P75S 223C>T COCA-CN 3 18458559 18458559 single base substitution G A upstream_gene_variant EOPC-DE 3 18426976 18426976 single base substitution G A intron_variant EOPC-DE 3 18440350 18440350 single base substitution T C intron_variant EOPC-DE 3 18444922 18444922 single base substitution A T intron_variant EOPC-DE 3 18451570 18451570 single base substitution G A downstream_gene_variant EOPC-DE 3 18451570 18451570 single base substitution G A intron_variant EOPC-DE 3 18483315 18483315 single base substitution C T intron_variant EOPC-DE 3 18483315 18483315 single base substitution C T upstream_gene_variant ESAD-UK 3 18381940 18381940 single base substitution A C downstream_gene_variant ESAD-UK 3 18382471 18382471 single base substitution A C downstream_gene_variant ESAD-UK 3 18382856 18382856 single base substitution T G downstream_gene_variant ESAD-UK 3 18383010 18383010 single base substitution G C downstream_gene_variant ESAD-UK 3 18383058 18383058 single base substitution A C downstream_gene_variant ESAD-UK 3 18383330 18383330 single base substitution G A downstream_gene_variant ESAD-UK 3 18384122 18384122 single base substitution C T downstream_gene_variant ESAD-UK 3 18384124 18384124 single base substitution T A downstream_gene_variant ESAD-UK 3 18384505 18384505 single base substitution A C downstream_gene_variant ESAD-UK 3 18384711 18384711 single base substitution G A downstream_gene_variant ESAD-UK 3 18385522 18385522 single base substitution C G downstream_gene_variant ESAD-UK 3 18386075 18386075 single base substitution G T downstream_gene_variant ESAD-UK 3 18386454 18386454 single base substitution G A downstream_gene_variant ESAD-UK 3 18387393 18387393 single base substitution G T 3_prime_UTR_variant ESAD-UK 3 18387393 18387393 single base substitution G T downstream_gene_variant ESAD-UK 3 18389872 18389872 single base substitution G T 3_prime_UTR_variant ESAD-UK 3 18389872 18389872 single base substitution G T downstream_gene_variant ESAD-UK 3 18390644 18390644 single base substitution G T 3_prime_UTR_variant ESAD-UK 3 18390644 18390644 single base substitution G T downstream_gene_variant ESAD-UK 3 18390644 18390644 single base substitution G T exon_variant ESAD-UK 3 18392088 18392088 single base substitution C G downstream_gene_variant ESAD-UK 3 18392088 18392088 single base substitution C G exon_variant ESAD-UK 3 18392088 18392088 single base substitution C G intron_variant ESAD-UK 3 18393218 18393218 single base substitution C A downstream_gene_variant ESAD-UK 3 18393218 18393218 single base substitution C A exon_variant ESAD-UK 3 18393218 18393218 single base substitution C A intron_variant ESAD-UK 3 18393218 18393218 single base substitution C A upstream_gene_variant ESAD-UK 3 18394402 18394402 single base substitution T C exon_variant ESAD-UK 3 18394402 18394402 single base substitution T C intron_variant ESAD-UK 3 18394402 18394402 single base substitution T C upstream_gene_variant ESAD-UK 3 18394602 18394602 single base substitution G T intron_variant ESAD-UK 3 18394602 18394602 single base substitution G T upstream_gene_variant ESAD-UK 3 18394979 18394979 single base substitution G C intron_variant ESAD-UK 3 18394979 18394979 single base substitution G C upstream_gene_variant ESAD-UK 3 18397087 18397087 single base substitution T C intron_variant ESAD-UK 3 18397087 18397087 single base substitution T C upstream_gene_variant ESAD-UK 3 18397087 18397087 single base substitution T G intron_variant ESAD-UK 3 18397087 18397087 single base substitution T G upstream_gene_variant ESAD-UK 3 18398186 18398186 single base substitution T C intron_variant ESAD-UK 3 18398186 18398186 single base substitution T C upstream_gene_variant ESAD-UK 3 18399438 18399438 deletion of <=200bp T - intron_variant ESAD-UK 3 18399438 18399438 deletion of <=200bp T - upstream_gene_variant ESAD-UK 3 18399460 18399460 single base substitution A G intron_variant ESAD-UK 3 18399460 18399460 single base substitution A G upstream_gene_variant ESAD-UK 3 18399576 18399576 single base substitution T G intron_variant ESAD-UK 3 18399576 18399576 single base substitution T G upstream_gene_variant ESAD-UK 3 18400197 18400197 single base substitution T G intron_variant ESAD-UK 3 18401168 18401168 single base substitution G A intron_variant ESAD-UK 3 18401300 18401300 insertion of <=200bp - A intron_variant ESAD-UK 3 18401822 18401822 single base substitution C T intron_variant ESAD-UK 3 18402335 18402335 single base substitution T C intron_variant ESAD-UK 3 18403692 18403692 single base substitution G A intron_variant ESAD-UK 3 18406340 18406340 single base substitution T C intron_variant ESAD-UK 3 18407361 18407361 single base substitution C A intron_variant ESAD-UK 3 18407736 18407736 single base substitution A C intron_variant ESAD-UK 3 18409272 18409272 single base substitution G C intron_variant ESAD-UK 3 18409278 18409278 single base substitution C A intron_variant ESAD-UK 3 18409669 18409669 single base substitution A C intron_variant ESAD-UK 3 18409818 18409818 single base substitution A G intron_variant ESAD-UK 3 18410009 18410009 single base substitution T G intron_variant ESAD-UK 3 18410939 18410939 single base substitution A T intron_variant ESAD-UK 3 18412410 18412410 single base substitution T C intron_variant ESAD-UK 3 18415368 18415368 single base substitution C T intron_variant ESAD-UK 3 18415471 18415471 single base substitution C T intron_variant ESAD-UK 3 18416411 18416411 single base substitution C T intron_variant ESAD-UK 3 18416443 18416443 single base substitution A C intron_variant ESAD-UK 3 18416572 18416572 single base substitution A T intron_variant ESAD-UK 3 18417095 18417095 insertion of <=200bp - T intron_variant ESAD-UK 3 18417438 18417438 single base substitution T G intron_variant ESAD-UK 3 18417807 18417807 single base substitution A C intron_variant ESAD-UK 3 18418694 18418694 single base substitution A C intron_variant ESAD-UK 3 18418913 18418913 single base substitution A C intron_variant ESAD-UK 3 18419143 18419143 insertion of <=200bp - TG intron_variant ESAD-UK 3 18419607 18419607 single base substitution A G intron_variant ESAD-UK 3 18420852 18420852 single base substitution G T intron_variant ESAD-UK 3 18420852 18420852 single base substitution G T upstream_gene_variant ESAD-UK 3 18420957 18420957 single base substitution T A intron_variant ESAD-UK 3 18420957 18420957 single base substitution T A upstream_gene_variant ESAD-UK 3 18420976 18420976 single base substitution C G intron_variant ESAD-UK 3 18420976 18420976 single base substitution C G upstream_gene_variant ESAD-UK 3 18421558 18421558 single base substitution G A intron_variant ESAD-UK 3 18421558 18421558 single base substitution G A upstream_gene_variant ESAD-UK 3 18421817 18421817 single base substitution T C intron_variant ESAD-UK 3 18421817 18421817 single base substitution T C upstream_gene_variant ESAD-UK 3 18421917 18421917 single base substitution C G intron_variant ESAD-UK 3 18421917 18421917 single base substitution C G upstream_gene_variant ESAD-UK 3 18422041 18422041 single base substitution G T intron_variant ESAD-UK 3 18422041 18422041 single base substitution G T upstream_gene_variant ESAD-UK 3 18422055 18422055 single base substitution T A intron_variant ESAD-UK 3 18422055 18422055 single base substitution T A upstream_gene_variant ESAD-UK 3 18422303 18422303 single base substitution T G intron_variant ESAD-UK 3 18422303 18422303 single base substitution T G upstream_gene_variant ESAD-UK 3 18422842 18422842 single base substitution A C intron_variant ESAD-UK 3 18422842 18422842 single base substitution A C upstream_gene_variant ESAD-UK 3 18423116 18423116 single base substitution A T intron_variant ESAD-UK 3 18423116 18423116 single base substitution A T upstream_gene_variant ESAD-UK 3 18423172 18423172 single base substitution C G intron_variant ESAD-UK 3 18423172 18423172 single base substitution C G upstream_gene_variant ESAD-UK 3 18423212 18423212 single base substitution T G intron_variant ESAD-UK 3 18423212 18423212 single base substitution T G upstream_gene_variant ESAD-UK 3 18424795 18424795 single base substitution T G intron_variant ESAD-UK 3 18424795 18424795 single base substitution T G upstream_gene_variant ESAD-UK 3 18426198 18426198 single base substitution G A intron_variant ESAD-UK 3 18426310 18426310 single base substitution C T intron_variant ESAD-UK 3 18427006 18427006 single base substitution T G intron_variant ESAD-UK 3 18429282 18429282 single base substitution A G intron_variant ESAD-UK 3 18430020 18430020 single base substitution C T intron_variant ESAD-UK 3 18430654 18430654 single base substitution A G intron_variant ESAD-UK 3 18430962 18430962 single base substitution T G intron_variant ESAD-UK 3 18432088 18432088 single base substitution A G intron_variant ESAD-UK 3 18433117 18433117 single base substitution G A intron_variant ESAD-UK 3 18433815 18433815 single base substitution T G downstream_gene_variant ESAD-UK 3 18433815 18433815 single base substitution T G intron_variant ESAD-UK 3 18434474 18434474 single base substitution A T downstream_gene_variant ESAD-UK 3 18434474 18434474 single base substitution A T intron_variant ESAD-UK 3 18435250 18435250 single base substitution C T downstream_gene_variant ESAD-UK 3 18435250 18435250 single base substitution C T intron_variant ESAD-UK 3 18435623 18435623 single base substitution T C downstream_gene_variant ESAD-UK 3 18435623 18435623 single base substitution T C intron_variant ESAD-UK 3 18436276 18436276 single base substitution G A downstream_gene_variant ESAD-UK 3 18436276 18436276 single base substitution G A missense_variant S295F 884C>T ESAD-UK 3 18436784 18436784 single base substitution T C downstream_gene_variant ESAD-UK 3 18436784 18436784 single base substitution T C intron_variant ESAD-UK 3 18436884 18436884 deletion of <=200bp A - downstream_gene_variant ESAD-UK 3 18436884 18436884 deletion of <=200bp A - intron_variant ESAD-UK 3 18437088 18437088 single base substitution G T downstream_gene_variant ESAD-UK 3 18437088 18437088 single base substitution G T intron_variant ESAD-UK 3 18439134 18439134 single base substitution A C intron_variant ESAD-UK 3 18439664 18439664 single base substitution A T intron_variant ESAD-UK 3 18440183 18440183 single base substitution A C intron_variant ESAD-UK 3 18440323 18440323 single base substitution T A intron_variant ESAD-UK 3 18440674 18440674 single base substitution G A intron_variant ESAD-UK 3 18440954 18440954 single base substitution G A intron_variant ESAD-UK 3 18442262 18442262 single base substitution T G intron_variant ESAD-UK 3 18443043 18443043 single base substitution T A intron_variant ESAD-UK 3 18443067 18443067 single base substitution T G intron_variant ESAD-UK 3 18443584 18443584 single base substitution G T intron_variant ESAD-UK 3 18444044 18444044 single base substitution C T intron_variant ESAD-UK 3 18444470 18444470 single base substitution A G intron_variant ESAD-UK 3 18444741 18444741 single base substitution C T intron_variant ESAD-UK 3 18444987 18444987 single base substitution T G intron_variant ESAD-UK 3 18446082 18446082 single base substitution G A intron_variant ESAD-UK 3 18449599 18449599 single base substitution A C downstream_gene_variant ESAD-UK 3 18449599 18449599 single base substitution A C intron_variant ESAD-UK 3 18450004 18450004 single base substitution G A downstream_gene_variant ESAD-UK 3 18450004 18450004 single base substitution G A intron_variant ESAD-UK 3 18450997 18450997 single base substitution A C downstream_gene_variant ESAD-UK 3 18450997 18450997 single base substitution A C intron_variant ESAD-UK 3 18451129 18451129 single base substitution C A downstream_gene_variant ESAD-UK 3 18451129 18451129 single base substitution C A intron_variant ESAD-UK 3 18451539 18451539 single base substitution G A downstream_gene_variant ESAD-UK 3 18451539 18451539 single base substitution G A intron_variant ESAD-UK 3 18452255 18452255 single base substitution T C downstream_gene_variant ESAD-UK 3 18452255 18452255 single base substitution T C intron_variant ESAD-UK 3 18452319 18452319 single base substitution A C downstream_gene_variant ESAD-UK 3 18452319 18452319 single base substitution A C exon_variant ESAD-UK 3 18452319 18452319 single base substitution A C intron_variant ESAD-UK 3 18453981 18453981 single base substitution A T downstream_gene_variant ESAD-UK 3 18453981 18453981 single base substitution A T intron_variant ESAD-UK 3 18454228 18454228 single base substitution T G downstream_gene_variant ESAD-UK 3 18454228 18454228 single base substitution T G intron_variant ESAD-UK 3 18454463 18454463 single base substitution G T downstream_gene_variant ESAD-UK 3 18454463 18454463 single base substitution G T intron_variant ESAD-UK 3 18455773 18455773 single base substitution C A downstream_gene_variant ESAD-UK 3 18455773 18455773 single base substitution C A intron_variant ESAD-UK 3 18456860 18456860 single base substitution G T downstream_gene_variant ESAD-UK 3 18456860 18456860 single base substitution G T intron_variant ESAD-UK 3 18457305 18457305 single base substitution G T downstream_gene_variant ESAD-UK 3 18457305 18457305 single base substitution G T intron_variant ESAD-UK 3 18457306 18457306 single base substitution G T downstream_gene_variant ESAD-UK 3 18457306 18457306 single base substitution G T intron_variant ESAD-UK 3 18460830 18460830 single base substitution G C downstream_gene_variant ESAD-UK 3 18460830 18460830 single base substitution G C intron_variant ESAD-UK 3 18460830 18460830 single base substitution G C upstream_gene_variant ESAD-UK 3 18461348 18461348 single base substitution G A downstream_gene_variant ESAD-UK 3 18461348 18461348 single base substitution G A intron_variant ESAD-UK 3 18461348 18461348 single base substitution G A upstream_gene_variant ESAD-UK 3 18461806 18461806 single base substitution A T downstream_gene_variant ESAD-UK 3 18461806 18461806 single base substitution A T intron_variant ESAD-UK 3 18461806 18461806 single base substitution A T upstream_gene_variant ESAD-UK 3 18462343 18462343 single base substitution C T downstream_gene_variant ESAD-UK 3 18462343 18462343 single base substitution C T exon_variant ESAD-UK 3 18462343 18462343 single base substitution C T synonymous_variant P39P 117G>A ESAD-UK 3 18462343 18462343 single base substitution C T upstream_gene_variant ESAD-UK 3 18462772 18462772 single base substitution A C 5_prime_UTR_variant ESAD-UK 3 18462772 18462772 single base substitution A C intron_variant ESAD-UK 3 18462772 18462772 single base substitution A C upstream_gene_variant ESAD-UK 3 18466287 18466287 single base substitution G A 5_prime_UTR_variant ESAD-UK 3 18466287 18466287 single base substitution G A intron_variant ESAD-UK 3 18466287 18466287 single base substitution G A upstream_gene_variant ESAD-UK 3 18469427 18469427 single base substitution A G intron_variant ESAD-UK 3 18469427 18469427 single base substitution A G upstream_gene_variant ESAD-UK 3 18472410 18472410 single base substitution T A intron_variant ESAD-UK 3 18472693 18472693 insertion of <=200bp - T intron_variant ESAD-UK 3 18472829 18472829 single base substitution C T intron_variant ESAD-UK 3 18473106 18473106 single base substitution T C intron_variant ESAD-UK 3 18473472 18473472 single base substitution A G intron_variant ESAD-UK 3 18473545 18473545 single base substitution T G intron_variant ESAD-UK 3 18475774 18475774 single base substitution G A intron_variant ESAD-UK 3 18475876 18475876 insertion of <=200bp - TA intron_variant ESAD-UK 3 18475876 18475877 deletion of <=200bp TA - intron_variant ESAD-UK 3 18476343 18476343 single base substitution G A intron_variant ESAD-UK 3 18477075 18477075 single base substitution T G intron_variant ESAD-UK 3 18477075 18477075 single base substitution T G upstream_gene_variant ESAD-UK 3 18477920 18477920 single base substitution A T intron_variant ESAD-UK 3 18477920 18477920 single base substitution A T upstream_gene_variant ESAD-UK 3 18478107 18478107 single base substitution T C intron_variant ESAD-UK 3 18478107 18478107 single base substitution T C upstream_gene_variant ESAD-UK 3 18478838 18478838 single base substitution A T intron_variant ESAD-UK 3 18478838 18478838 single base substitution A T upstream_gene_variant ESAD-UK 3 18478849 18478849 single base substitution A C intron_variant ESAD-UK 3 18478849 18478849 single base substitution A C upstream_gene_variant ESAD-UK 3 18478919 18478919 insertion of <=200bp - T intron_variant ESAD-UK 3 18478919 18478919 insertion of <=200bp - T upstream_gene_variant ESAD-UK 3 18478947 18478947 single base substitution G A intron_variant ESAD-UK 3 18478947 18478947 single base substitution G A upstream_gene_variant ESAD-UK 3 18479512 18479512 single base substitution G A intron_variant ESAD-UK 3 18479512 18479512 single base substitution G A upstream_gene_variant ESAD-UK 3 18480913 18480913 single base substitution C G intron_variant ESAD-UK 3 18480913 18480913 single base substitution C G upstream_gene_variant ESAD-UK 3 18483051 18483051 single base substitution T C intron_variant ESAD-UK 3 18483051 18483051 single base substitution T C upstream_gene_variant ESAD-UK 3 18485608 18485608 single base substitution C G intron_variant ESAD-UK 3 18485766 18485766 single base substitution G A intron_variant ESAD-UK 3 18489510 18489510 single base substitution C A upstream_gene_variant ESAD-UK 3 18489842 18489842 single base substitution A G upstream_gene_variant ESAD-UK 3 18491935 18491935 single base substitution T A upstream_gene_variant KIRP-US 3 18390936 18390936 single base substitution T C downstream_gene_variant KIRP-US 3 18390936 18390936 single base substitution T C exon_variant KIRP-US 3 18390936 18390936 single base substitution T C missense_variant E673G 2018A>G KIRP-US 3 18390936 18390936 single base substitution T C missense_variant E705G 2114A>G KIRP-US 3 18391133 18391135 deletion of <=200bp CTG - downstream_gene_variant KIRP-US 3 18391133 18391135 deletion of <=200bp CTG - exon_variant KIRP-US 3 18391133 18391135 deletion of <=200bp CTG - inframe_deletion Q607 KIRP-US 3 18391133 18391135 deletion of <=200bp CTG - inframe_deletion Q639 KIRP-US 3 18391172 18391172 single base substitution T A downstream_gene_variant KIRP-US 3 18391172 18391172 single base substitution T A exon_variant KIRP-US 3 18391172 18391172 single base substitution T A missense_variant Q594H 1782A>T KIRP-US 3 18391172 18391172 single base substitution T A missense_variant Q626H 1878A>T KIRP-US 3 18391172 18391172 single base substitution T A splice_region_variant LAML-KR 3 18405039 18405039 single base substitution C G intron_variant LGG-US 3 18435971 18435971 single base substitution C A downstream_gene_variant LGG-US 3 18435971 18435971 single base substitution C A missense_variant A397S 1189G>T LICA-CN 3 18436410 18436410 single base substitution T A downstream_gene_variant LICA-CN 3 18436410 18436410 single base substitution T A splice_acceptor_variant LICA-CN 3 18457500 18457500 single base substitution T A downstream_gene_variant LICA-CN 3 18457500 18457500 single base substitution T A missense_variant R172W 514A>T LICA-CN 3 18457500 18457500 single base substitution T A missense_variant S172C 514A>T LICA-CN 3 18457500 18457500 single base substitution T A splice_region_variant LICA-FR 3 18407496 18407496 single base substitution C A intron_variant LICA-FR 3 18414553 18414553 single base substitution C A intron_variant LICA-FR 3 18419206 18419206 single base substitution G A intron_variant LICA-FR 3 18427825 18427825 single base substitution A G intron_variant LICA-FR 3 18430754 18430754 deletion of <=200bp T - intron_variant LICA-FR 3 18440672 18440672 single base substitution C G intron_variant LICA-FR 3 18468549 18468549 single base substitution C A intron_variant LICA-FR 3 18468549 18468549 single base substitution C A upstream_gene_variant LICA-FR 3 18470553 18470553 single base substitution C G intron_variant LICA-FR 3 18470553 18470553 single base substitution C G upstream_gene_variant LICA-FR 3 18483887 18483887 single base substitution T A intron_variant LICA-FR 3 18483887 18483887 single base substitution T A upstream_gene_variant LIHC-US 3 18390856 18390856 single base substitution G C downstream_gene_variant LIHC-US 3 18390856 18390856 single base substitution G C exon_variant LIHC-US 3 18390856 18390856 single base substitution G C missense_variant L700V 2098C>G LIHC-US 3 18390856 18390856 single base substitution G C missense_variant L732V 2194C>G LIHC-US 3 18393620 18393620 single base substitution T C exon_variant LIHC-US 3 18393620 18393620 single base substitution T C missense_variant N548S 1643A>G LIHC-US 3 18393620 18393620 single base substitution T C upstream_gene_variant LIHC-US 3 18427925 18427925 single base substitution G T missense_variant P462H 1385C>A LIHC-US 3 18436227 18436227 single base substitution A T downstream_gene_variant LIHC-US 3 18436227 18436227 single base substitution A T synonymous_variant P311P 933T>A LIHC-US 3 18456693 18456693 single base substitution T C downstream_gene_variant LIHC-US 3 18456693 18456693 single base substitution T C exon_variant LIHC-US 3 18456693 18456693 single base substitution T C synonymous_variant Q183Q 549A>G LIHC-US 3 18462375 18462375 single base substitution T G downstream_gene_variant LIHC-US 3 18462375 18462375 single base substitution T G exon_variant LIHC-US 3 18462375 18462375 single base substitution T G missense_variant K29Q 85A>C LIHC-US 3 18462375 18462375 single base substitution T G upstream_gene_variant LINC-JP 3 18382849 18382849 single base substitution T G downstream_gene_variant LINC-JP 3 18387683 18387683 deletion of <=200bp T - 3_prime_UTR_variant LINC-JP 3 18387683 18387683 deletion of <=200bp T - downstream_gene_variant LINC-JP 3 18390328 18390328 single base substitution T C 3_prime_UTR_variant LINC-JP 3 18390328 18390328 single base substitution T C downstream_gene_variant LINC-JP 3 18401008 18401008 single base substitution T C intron_variant LINC-JP 3 18424428 18424428 single base substitution G C intron_variant LINC-JP 3 18424428 18424428 single base substitution G C upstream_gene_variant LINC-JP 3 18425575 18425575 insertion of <=200bp - A intron_variant LINC-JP 3 18428112 18428112 single base substitution A C intron_variant LINC-JP 3 18428777 18428777 single base substitution T A intron_variant LINC-JP 3 18433441 18433441 single base substitution G T intron_variant LINC-JP 3 18434465 18434465 insertion of <=200bp - A downstream_gene_variant LINC-JP 3 18434465 18434465 insertion of <=200bp - A intron_variant LINC-JP 3 18438676 18438676 single base substitution A G downstream_gene_variant LINC-JP 3 18438676 18438676 single base substitution A G missense_variant M249T 746T>C LINC-JP 3 18442062 18442062 single base substitution C A intron_variant LINC-JP 3 18447921 18447921 single base substitution A G downstream_gene_variant LINC-JP 3 18447921 18447921 single base substitution A G intron_variant LINC-JP 3 18457532 18457532 single base substitution T C downstream_gene_variant LINC-JP 3 18457532 18457532 single base substitution T C exon_variant LINC-JP 3 18457532 18457532 single base substitution T C missense_variant Y161C 482A>G LINC-JP 3 18457551 18457551 single base substitution C T downstream_gene_variant LINC-JP 3 18457551 18457551 single base substitution C T exon_variant LINC-JP 3 18457551 18457551 single base substitution C T missense_variant D155N 463G>A LINC-JP 3 18458415 18458415 single base substitution T C downstream_gene_variant LINC-JP 3 18458415 18458415 single base substitution T C exon_variant LINC-JP 3 18458415 18458415 single base substitution T C missense_variant S123G 367A>G LINC-JP 3 18458415 18458415 single base substitution T C upstream_gene_variant LINC-JP 3 18462335 18462335 single base substitution C A downstream_gene_variant LINC-JP 3 18462335 18462335 single base substitution C A exon_variant LINC-JP 3 18462335 18462335 single base substitution C A missense_variant R42I 125G>T LINC-JP 3 18462335 18462335 single base substitution C A upstream_gene_variant LINC-JP 3 18478401 18478401 single base substitution A G intron_variant LINC-JP 3 18478401 18478401 single base substitution A G upstream_gene_variant LINC-JP 3 18484840 18484840 single base substitution C T intron_variant LINC-JP 3 18484840 18484840 single base substitution C T upstream_gene_variant LINC-JP 3 18489178 18489178 single base substitution A G upstream_gene_variant LIRI-JP 3 18382185 18382185 single base substitution T C downstream_gene_variant LIRI-JP 3 18382980 18382980 single base substitution A G downstream_gene_variant LIRI-JP 3 18383232 18383232 single base substitution T C downstream_gene_variant LIRI-JP 3 18383351 18383351 single base substitution G A downstream_gene_variant LIRI-JP 3 18383953 18383953 single base substitution T C downstream_gene_variant LIRI-JP 3 18384326 18384326 single base substitution A G downstream_gene_variant LIRI-JP 3 18386355 18386357 deletion of <=200bp TTC - downstream_gene_variant LIRI-JP 3 18386502 18386502 single base substitution T G downstream_gene_variant LIRI-JP 3 18386947 18386947 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 18386947 18386947 single base substitution T C downstream_gene_variant LIRI-JP 3 18389072 18389072 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 18389072 18389072 single base substitution T C downstream_gene_variant LIRI-JP 3 18389445 18389445 single base substitution C T 3_prime_UTR_variant LIRI-JP 3 18389445 18389445 single base substitution C T downstream_gene_variant LIRI-JP 3 18389510 18389510 deletion of <=200bp T - 3_prime_UTR_variant LIRI-JP 3 18389510 18389510 deletion of <=200bp T - downstream_gene_variant LIRI-JP 3 18389590 18389590 single base substitution C T 3_prime_UTR_variant LIRI-JP 3 18389590 18389590 single base substitution C T downstream_gene_variant LIRI-JP 3 18393770 18393770 single base substitution C T exon_variant LIRI-JP 3 18393770 18393770 single base substitution C T intron_variant LIRI-JP 3 18393770 18393770 single base substitution C T upstream_gene_variant LIRI-JP 3 18395422 18395422 single base substitution A G intron_variant LIRI-JP 3 18395422 18395422 single base substitution A G upstream_gene_variant LIRI-JP 3 18396142 18396142 single base substitution T A intron_variant LIRI-JP 3 18396142 18396142 single base substitution T A upstream_gene_variant LIRI-JP 3 18396377 18396377 single base substitution T A intron_variant LIRI-JP 3 18396377 18396377 single base substitution T A upstream_gene_variant LIRI-JP 3 18396536 18396536 single base substitution C T intron_variant LIRI-JP 3 18396536 18396536 single base substitution C T upstream_gene_variant LIRI-JP 3 18396663 18396663 single base substitution G A intron_variant LIRI-JP 3 18396663 18396663 single base substitution G A upstream_gene_variant LIRI-JP 3 18399539 18399539 single base substitution C A intron_variant LIRI-JP 3 18399539 18399539 single base substitution C A upstream_gene_variant LIRI-JP 3 18400005 18400005 single base substitution T C intron_variant LIRI-JP 3 18400199 18400199 single base substitution T G intron_variant LIRI-JP 3 18400534 18400534 single base substitution A C intron_variant LIRI-JP 3 18403920 18403920 single base substitution A T intron_variant LIRI-JP 3 18405595 18405595 single base substitution C T intron_variant LIRI-JP 3 18405923 18405923 single base substitution G T intron_variant LIRI-JP 3 18407170 18407170 single base substitution G A intron_variant LIRI-JP 3 18407461 18407461 single base substitution A T intron_variant LIRI-JP 3 18407654 18407654 single base substitution C T intron_variant LIRI-JP 3 18410267 18410267 single base substitution T C intron_variant LIRI-JP 3 18411553 18411553 single base substitution C G intron_variant LIRI-JP 3 18411576 18411576 single base substitution T C intron_variant LIRI-JP 3 18413200 18413200 single base substitution T C intron_variant LIRI-JP 3 18413892 18413892 single base substitution T C intron_variant LIRI-JP 3 18415908 18415908 single base substitution C A intron_variant LIRI-JP 3 18418067 18418067 single base substitution T C intron_variant LIRI-JP 3 18421243 18421243 single base substitution C T intron_variant LIRI-JP 3 18421243 18421243 single base substitution C T upstream_gene_variant LIRI-JP 3 18421309 18421309 insertion of <=200bp - A intron_variant LIRI-JP 3 18421309 18421309 insertion of <=200bp - A upstream_gene_variant LIRI-JP 3 18421899 18421899 single base substitution T C intron_variant LIRI-JP 3 18421899 18421899 single base substitution T C upstream_gene_variant LIRI-JP 3 18422792 18422792 single base substitution T A intron_variant LIRI-JP 3 18422792 18422792 single base substitution T A upstream_gene_variant LIRI-JP 3 18424398 18424398 single base substitution A T intron_variant LIRI-JP 3 18424398 18424398 single base substitution A T upstream_gene_variant LIRI-JP 3 18424564 18424564 deletion of <=200bp T - intron_variant LIRI-JP 3 18424564 18424564 deletion of <=200bp T - upstream_gene_variant LIRI-JP 3 18424878 18424878 single base substitution C A intron_variant LIRI-JP 3 18425326 18425326 single base substitution G C intron_variant LIRI-JP 3 18426246 18426246 single base substitution T A intron_variant LIRI-JP 3 18427268 18427268 single base substitution T C intron_variant LIRI-JP 3 18427772 18427772 single base substitution T C intron_variant LIRI-JP 3 18428840 18428840 single base substitution A G intron_variant LIRI-JP 3 18428890 18428890 single base substitution A G intron_variant LIRI-JP 3 18430149 18430149 single base substitution C A intron_variant LIRI-JP 3 18430413 18430413 single base substitution T C intron_variant LIRI-JP 3 18431226 18431226 single base substitution G A intron_variant LIRI-JP 3 18431654 18431654 single base substitution C T intron_variant LIRI-JP 3 18435395 18435395 single base substitution T C downstream_gene_variant LIRI-JP 3 18435395 18435395 single base substitution T C intron_variant LIRI-JP 3 18435778 18435778 single base substitution T C downstream_gene_variant LIRI-JP 3 18435778 18435778 single base substitution T C intron_variant LIRI-JP 3 18437358 18437358 single base substitution T C downstream_gene_variant LIRI-JP 3 18437358 18437358 single base substitution T C intron_variant LIRI-JP 3 18437710 18437710 single base substitution T C downstream_gene_variant LIRI-JP 3 18437710 18437710 single base substitution T C intron_variant LIRI-JP 3 18440030 18440030 single base substitution T C intron_variant LIRI-JP 3 18440445 18440445 single base substitution C T intron_variant LIRI-JP 3 18441603 18441603 single base substitution T C intron_variant LIRI-JP 3 18441606 18441606 single base substitution T C intron_variant LIRI-JP 3 18442874 18442874 single base substitution T C intron_variant LIRI-JP 3 18444648 18444648 single base substitution T C intron_variant LIRI-JP 3 18444650 18444650 single base substitution T C intron_variant LIRI-JP 3 18447295 18447295 single base substitution G A downstream_gene_variant LIRI-JP 3 18447295 18447295 single base substitution G A intron_variant LIRI-JP 3 18447468 18447468 single base substitution T C downstream_gene_variant LIRI-JP 3 18447468 18447468 single base substitution T C intron_variant LIRI-JP 3 18449266 18449266 single base substitution G A downstream_gene_variant LIRI-JP 3 18449266 18449266 single base substitution G A intron_variant LIRI-JP 3 18450457 18450457 single base substitution T C downstream_gene_variant LIRI-JP 3 18450457 18450457 single base substitution T C intron_variant LIRI-JP 3 18452696 18452696 single base substitution C A downstream_gene_variant LIRI-JP 3 18452696 18452696 single base substitution C A intron_variant LIRI-JP 3 18452994 18452994 single base substitution G C downstream_gene_variant LIRI-JP 3 18452994 18452994 single base substitution G C intron_variant LIRI-JP 3 18453168 18453168 single base substitution C T downstream_gene_variant LIRI-JP 3 18453168 18453168 single base substitution C T intron_variant LIRI-JP 3 18453210 18453210 single base substitution A G downstream_gene_variant LIRI-JP 3 18453210 18453210 single base substitution A G intron_variant LIRI-JP 3 18453527 18453527 single base substitution T C downstream_gene_variant LIRI-JP 3 18453527 18453527 single base substitution T C intron_variant LIRI-JP 3 18453947 18453947 single base substitution G A downstream_gene_variant LIRI-JP 3 18453947 18453947 single base substitution G A intron_variant LIRI-JP 3 18454574 18454574 single base substitution G A downstream_gene_variant LIRI-JP 3 18454574 18454574 single base substitution G A intron_variant LIRI-JP 3 18454596 18454596 single base substitution G T downstream_gene_variant LIRI-JP 3 18454596 18454596 single base substitution G T intron_variant LIRI-JP 3 18456554 18456554 single base substitution C T downstream_gene_variant LIRI-JP 3 18456554 18456554 single base substitution C T exon_variant LIRI-JP 3 18456554 18456554 single base substitution C T intron_variant LIRI-JP 3 18458523 18458523 single base substitution T G downstream_gene_variant LIRI-JP 3 18458523 18458523 single base substitution T G exon_variant LIRI-JP 3 18458523 18458523 single base substitution T G missense_variant I87L 259A>C LIRI-JP 3 18458523 18458523 single base substitution T G upstream_gene_variant LIRI-JP 3 18460926 18460926 single base substitution C A downstream_gene_variant LIRI-JP 3 18460926 18460926 single base substitution C A intron_variant LIRI-JP 3 18460926 18460926 single base substitution C A upstream_gene_variant LIRI-JP 3 18465397 18465397 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 3 18465397 18465397 single base substitution G A intron_variant LIRI-JP 3 18465397 18465397 single base substitution G A upstream_gene_variant LIRI-JP 3 18465983 18465983 single base substitution C G 5_prime_UTR_variant LIRI-JP 3 18465983 18465983 single base substitution C G intron_variant LIRI-JP 3 18465983 18465983 single base substitution C G upstream_gene_variant LIRI-JP 3 18466050 18466050 single base substitution C G 5_prime_UTR_variant LIRI-JP 3 18466050 18466050 single base substitution C G intron_variant LIRI-JP 3 18466050 18466050 single base substitution C G upstream_gene_variant LIRI-JP 3 18468770 18468770 single base substitution C T intron_variant LIRI-JP 3 18468770 18468770 single base substitution C T upstream_gene_variant LIRI-JP 3 18471076 18471076 single base substitution G A intron_variant LIRI-JP 3 18471076 18471076 single base substitution G A upstream_gene_variant LIRI-JP 3 18475393 18475393 single base substitution T C intron_variant LIRI-JP 3 18476652 18476652 single base substitution A G 5_prime_UTR_variant LIRI-JP 3 18476652 18476652 single base substitution A G intron_variant LIRI-JP 3 18477152 18477152 single base substitution A G intron_variant LIRI-JP 3 18477152 18477152 single base substitution A G upstream_gene_variant LIRI-JP 3 18477270 18477270 single base substitution A T intron_variant LIRI-JP 3 18477270 18477270 single base substitution A T upstream_gene_variant LIRI-JP 3 18478448 18478448 single base substitution T A intron_variant LIRI-JP 3 18478448 18478448 single base substitution T A upstream_gene_variant LIRI-JP 3 18478456 18478456 single base substitution G A intron_variant LIRI-JP 3 18478456 18478456 single base substitution G A upstream_gene_variant LIRI-JP 3 18481230 18481230 single base substitution G T intron_variant LIRI-JP 3 18481230 18481230 single base substitution G T upstream_gene_variant LIRI-JP 3 18483030 18483030 single base substitution A T intron_variant LIRI-JP 3 18483030 18483030 single base substitution A T upstream_gene_variant LIRI-JP 3 18483127 18483127 single base substitution T G intron_variant LIRI-JP 3 18483127 18483127 single base substitution T G upstream_gene_variant LIRI-JP 3 18483820 18483820 single base substitution T C intron_variant LIRI-JP 3 18483820 18483820 single base substitution T C upstream_gene_variant LIRI-JP 3 18484089 18484089 single base substitution A T intron_variant LIRI-JP 3 18484089 18484089 single base substitution A T upstream_gene_variant LIRI-JP 3 18485205 18485205 single base substitution C G intron_variant LIRI-JP 3 18485205 18485205 single base substitution C G upstream_gene_variant LIRI-JP 3 18490541 18490541 single base substitution C A upstream_gene_variant LIRI-JP 3 18490542 18490542 single base substitution C A upstream_gene_variant LUSC-KR 3 18393652 18393652 single base substitution A G exon_variant LUSC-KR 3 18393652 18393652 single base substitution A G synonymous_variant D537D 1611T>C LUSC-KR 3 18393652 18393652 single base substitution A G upstream_gene_variant LUSC-KR 3 18393874 18393874 single base substitution T C exon_variant LUSC-KR 3 18393874 18393874 single base substitution T C intron_variant LUSC-KR 3 18393874 18393874 single base substitution T C upstream_gene_variant LUSC-KR 3 18394300 18394300 single base substitution A G exon_variant LUSC-KR 3 18394300 18394300 single base substitution A G intron_variant LUSC-KR 3 18394300 18394300 single base substitution A G upstream_gene_variant LUSC-KR 3 18396163 18396163 single base substitution T C intron_variant LUSC-KR 3 18396163 18396163 single base substitution T C upstream_gene_variant LUSC-KR 3 18403012 18403012 single base substitution G T intron_variant LUSC-KR 3 18404373 18404373 single base substitution A C intron_variant LUSC-KR 3 18406758 18406758 single base substitution G C intron_variant LUSC-KR 3 18407818 18407818 single base substitution C T intron_variant LUSC-KR 3 18411658 18411658 single base substitution G T intron_variant LUSC-KR 3 18412388 18412388 single base substitution G T intron_variant LUSC-KR 3 18422309 18422309 single base substitution T C intron_variant LUSC-KR 3 18422309 18422309 single base substitution T C upstream_gene_variant LUSC-KR 3 18422866 18422866 single base substitution T A intron_variant LUSC-KR 3 18422866 18422866 single base substitution T A upstream_gene_variant LUSC-KR 3 18427394 18427394 single base substitution A T intron_variant LUSC-KR 3 18428866 18428866 single base substitution G T intron_variant LUSC-KR 3 18434482 18434482 single base substitution T A downstream_gene_variant LUSC-KR 3 18434482 18434482 single base substitution T A intron_variant LUSC-KR 3 18438105 18438105 single base substitution C A downstream_gene_variant LUSC-KR 3 18438105 18438105 single base substitution C A intron_variant LUSC-KR 3 18438122 18438122 single base substitution C G downstream_gene_variant LUSC-KR 3 18438122 18438122 single base substitution C G intron_variant LUSC-KR 3 18439150 18439150 single base substitution C A intron_variant LUSC-KR 3 18442614 18442614 single base substitution C T intron_variant LUSC-KR 3 18442616 18442616 single base substitution C A intron_variant LUSC-KR 3 18452775 18452775 single base substitution C A downstream_gene_variant LUSC-KR 3 18452775 18452775 single base substitution C A intron_variant LUSC-KR 3 18460410 18460410 single base substitution G A downstream_gene_variant LUSC-KR 3 18460410 18460410 single base substitution G A intron_variant LUSC-KR 3 18460410 18460410 single base substitution G A upstream_gene_variant LUSC-KR 3 18463956 18463956 single base substitution T G intron_variant LUSC-KR 3 18463956 18463956 single base substitution T G upstream_gene_variant LUSC-KR 3 18466209 18466209 single base substitution G T 5_prime_UTR_variant LUSC-KR 3 18466209 18466209 single base substitution G T intron_variant LUSC-KR 3 18466209 18466209 single base substitution G T upstream_gene_variant LUSC-KR 3 18468572 18468572 single base substitution C A intron_variant LUSC-KR 3 18468572 18468572 single base substitution C A upstream_gene_variant LUSC-KR 3 18468685 18468685 single base substitution G T intron_variant LUSC-KR 3 18468685 18468685 single base substitution G T upstream_gene_variant LUSC-KR 3 18470618 18470618 single base substitution G C intron_variant LUSC-KR 3 18470618 18470618 single base substitution G C upstream_gene_variant LUSC-KR 3 18470894 18470894 single base substitution A C intron_variant LUSC-KR 3 18470894 18470894 single base substitution A C upstream_gene_variant LUSC-KR 3 18472987 18472987 single base substitution G C intron_variant LUSC-KR 3 18473463 18473463 single base substitution C A intron_variant LUSC-US 3 18390710 18390710 single base substitution C G downstream_gene_variant LUSC-US 3 18390710 18390710 single base substitution C G exon_variant LUSC-US 3 18390710 18390710 single base substitution C G missense_variant E748D 2244G>C LUSC-US 3 18390710 18390710 single base substitution C G missense_variant E780D 2340G>C LUSC-US 3 18393544 18393544 single base substitution C G exon_variant LUSC-US 3 18393544 18393544 single base substitution C G synonymous_variant A573A 1719G>C LUSC-US 3 18393544 18393544 single base substitution C G upstream_gene_variant LUSC-US 3 18427920 18427920 single base substitution T G missense_variant I464L 1390A>C LUSC-US 3 18436276 18436276 single base substitution G A downstream_gene_variant LUSC-US 3 18436276 18436276 single base substitution G A missense_variant S295F 884C>T LUSC-US 3 18436276 18436276 single base substitution G C downstream_gene_variant LUSC-US 3 18436276 18436276 single base substitution G C missense_variant S295C 884C>G LUSC-US 3 18457567 18457567 single base substitution A G downstream_gene_variant LUSC-US 3 18457567 18457567 single base substitution A G exon_variant LUSC-US 3 18457567 18457567 single base substitution A G synonymous_variant P149P 447T>C MALY-DE 3 18397142 18397142 insertion of <=200bp - A intron_variant MALY-DE 3 18397142 18397142 insertion of <=200bp - A upstream_gene_variant MALY-DE 3 18399554 18399554 single base substitution A C intron_variant MALY-DE 3 18399554 18399554 single base substitution A C upstream_gene_variant MALY-DE 3 18400229 18400229 single base substitution G C intron_variant MALY-DE 3 18403491 18403491 single base substitution C A intron_variant MALY-DE 3 18404287 18404287 single base substitution A C intron_variant MALY-DE 3 18406339 18406339 insertion of <=200bp - T intron_variant MALY-DE 3 18409362 18409362 single base substitution C T intron_variant MALY-DE 3 18413602 18413602 single base substitution C T intron_variant MALY-DE 3 18417379 18417379 single base substitution A G intron_variant MALY-DE 3 18424426 18424426 single base substitution T G intron_variant MALY-DE 3 18424426 18424426 single base substitution T G upstream_gene_variant MALY-DE 3 18434313 18434313 single base substitution C T downstream_gene_variant MALY-DE 3 18434313 18434313 single base substitution C T intron_variant MALY-DE 3 18436627 18436627 single base substitution T C downstream_gene_variant MALY-DE 3 18436627 18436627 single base substitution T C intron_variant MALY-DE 3 18437136 18437136 single base substitution G A downstream_gene_variant MALY-DE 3 18437136 18437136 single base substitution G A intron_variant MALY-DE 3 18437463 18437463 single base substitution A C downstream_gene_variant MALY-DE 3 18437463 18437463 single base substitution A C intron_variant MALY-DE 3 18450165 18450165 single base substitution T C downstream_gene_variant MALY-DE 3 18450165 18450165 single base substitution T C intron_variant MALY-DE 3 18450788 18450788 single base substitution C T downstream_gene_variant MALY-DE 3 18450788 18450788 single base substitution C T intron_variant MALY-DE 3 18452430 18452430 single base substitution T A downstream_gene_variant MALY-DE 3 18452430 18452430 single base substitution T A exon_variant MALY-DE 3 18452430 18452430 single base substitution T A intron_variant MALY-DE 3 18452468 18452468 single base substitution G T downstream_gene_variant MALY-DE 3 18452468 18452468 single base substitution G T exon_variant MALY-DE 3 18452468 18452468 single base substitution G T intron_variant MALY-DE 3 18460280 18460280 deletion of <=200bp A - downstream_gene_variant MALY-DE 3 18460280 18460280 deletion of <=200bp A - intron_variant MALY-DE 3 18460280 18460280 deletion of <=200bp A - upstream_gene_variant MALY-DE 3 18462539 18462539 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 3 18462539 18462539 single base substitution T C intron_variant MALY-DE 3 18462539 18462539 single base substitution T C upstream_gene_variant MALY-DE 3 18462571 18462571 single base substitution T A 5_prime_UTR_variant MALY-DE 3 18462571 18462571 single base substitution T A intron_variant MALY-DE 3 18462571 18462571 single base substitution T A upstream_gene_variant MALY-DE 3 18470382 18470382 single base substitution T G intron_variant MALY-DE 3 18470382 18470382 single base substitution T G upstream_gene_variant MALY-DE 3 18470764 18470764 single base substitution G A intron_variant MALY-DE 3 18470764 18470764 single base substitution G A upstream_gene_variant MALY-DE 3 18476358 18476358 deletion of <=200bp A - intron_variant MALY-DE 3 18482188 18482188 single base substitution A C intron_variant MALY-DE 3 18482188 18482188 single base substitution A C upstream_gene_variant MALY-DE 3 18487846 18487846 single base substitution A C upstream_gene_variant MELA-AU 3 18381987 18381987 single base substitution G A downstream_gene_variant MELA-AU 3 18382323 18382323 single base substitution G A downstream_gene_variant MELA-AU 3 18382346 18382346 single base substitution T A downstream_gene_variant MELA-AU 3 18382860 18382860 single base substitution C T downstream_gene_variant MELA-AU 3 18382906 18382906 single base substitution G A downstream_gene_variant MELA-AU 3 18383319 18383319 single base substitution G A downstream_gene_variant MELA-AU 3 18383713 18383713 single base substitution C T downstream_gene_variant MELA-AU 3 18383967 18383967 single base substitution C T downstream_gene_variant MELA-AU 3 18384136 18384136 single base substitution G A downstream_gene_variant MELA-AU 3 18384166 18384166 single base substitution C T downstream_gene_variant MELA-AU 3 18384247 18384247 single base substitution G A downstream_gene_variant MELA-AU 3 18384463 18384463 single base substitution C T downstream_gene_variant MELA-AU 3 18384721 18384721 single base substitution G A downstream_gene_variant MELA-AU 3 18385270 18385270 single base substitution T A downstream_gene_variant MELA-AU 3 18385337 18385337 deletion of <=200bp T - downstream_gene_variant MELA-AU 3 18385554 18385554 single base substitution C T downstream_gene_variant MELA-AU 3 18385619 18385619 single base substitution A G downstream_gene_variant MELA-AU 3 18385742 18385742 single base substitution C T downstream_gene_variant MELA-AU 3 18386131 18386131 single base substitution C G downstream_gene_variant MELA-AU 3 18386152 18386152 single base substitution G A downstream_gene_variant MELA-AU 3 18386328 18386328 single base substitution G A downstream_gene_variant MELA-AU 3 18386406 18386406 single base substitution G A downstream_gene_variant MELA-AU 3 18386614 18386614 single base substitution C T downstream_gene_variant MELA-AU 3 18386712 18386712 single base substitution G A downstream_gene_variant MELA-AU 3 18386733 18386733 single base substitution G A downstream_gene_variant MELA-AU 3 18386846 18386846 single base substitution A C downstream_gene_variant MELA-AU 3 18386875 18386875 single base substitution A G downstream_gene_variant MELA-AU 3 18386990 18386990 single base substitution A T 3_prime_UTR_variant MELA-AU 3 18386990 18386990 single base substitution A T downstream_gene_variant MELA-AU 3 18387856 18387856 single base substitution C A 3_prime_UTR_variant MELA-AU 3 18387856 18387856 single base substitution C A downstream_gene_variant MELA-AU 3 18387906 18387906 single base substitution G A 3_prime_UTR_variant MELA-AU 3 18387906 18387906 single base substitution G A downstream_gene_variant MELA-AU 3 18387978 18387978 single base substitution G A 3_prime_UTR_variant MELA-AU 3 18387978 18387978 single base substitution G A downstream_gene_variant MELA-AU 3 18388027 18388027 single base substitution A T 3_prime_UTR_variant MELA-AU 3 18388027 18388027 single base substitution A T downstream_gene_variant MELA-AU 3 18388265 18388265 single base substitution G A 3_prime_UTR_variant MELA-AU 3 18388265 18388265 single base substitution G A downstream_gene_variant MELA-AU 3 18388299 18388299 single base substitution G A 3_prime_UTR_variant MELA-AU 3 18388299 18388299 single base substitution G A downstream_gene_variant MELA-AU 3 18388402 18388402 single base substitution C T 3_prime_UTR_variant MELA-AU 3 18388402 18388402 single base substitution C T downstream_gene_variant MELA-AU 3 18388719 18388719 single base substitution C T 3_prime_UTR_variant MELA-AU 3 18388719 18388719 single base substitution C T downstream_gene_variant MELA-AU 3 18388727 18388727 single base substitution C T 3_prime_UTR_variant MELA-AU 3 18388727 18388727 single base substitution C T downstream_gene_variant MELA-AU 3 18388728 18388728 single base substitution C T 3_prime_UTR_variant MELA-AU 3 18388728 18388728 single base substitution C T downstream_gene_variant MELA-AU 3 18388756 18388756 single base substitution G A 3_prime_UTR_variant MELA-AU 3 18388756 18388756 single base substitution G A downstream_gene_variant MELA-AU 3 18388961 18388961 single base substitution A C 3_prime_UTR_variant MELA-AU 3 18388961 18388961 single base substitution A C downstream_gene_variant MELA-AU 3 18388966 18388966 single base substitution T A 3_prime_UTR_variant MELA-AU 3 18388966 18388966 single base substitution T A downstream_gene_variant MELA-AU 3 18390017 18390017 single base substitution C T 3_prime_UTR_variant MELA-AU 3 18390017 18390017 single base substitution C T downstream_gene_variant MELA-AU 3 18390039 18390039 single base substitution A T 3_prime_UTR_variant MELA-AU 3 18390039 18390039 single base substitution A T downstream_gene_variant MELA-AU 3 18390079 18390079 single base substitution G A 3_prime_UTR_variant MELA-AU 3 18390079 18390079 single base substitution G A downstream_gene_variant MELA-AU 3 18390344 18390344 single base substitution A C 3_prime_UTR_variant MELA-AU 3 18390344 18390344 single base substitution A C downstream_gene_variant MELA-AU 3 18390385 18390385 single base substitution T G 3_prime_UTR_variant MELA-AU 3 18390385 18390385 single base substitution T G downstream_gene_variant MELA-AU 3 18390385 18390385 single base substitution T G exon_variant MELA-AU 3 18390514 18390514 single base substitution C T 3_prime_UTR_variant MELA-AU 3 18390514 18390514 single base substitution C T downstream_gene_variant MELA-AU 3 18390514 18390514 single base substitution C T exon_variant MELA-AU 3 18390638 18390638 single base substitution T C 3_prime_UTR_variant MELA-AU 3 18390638 18390638 single base substitution T C downstream_gene_variant MELA-AU 3 18390638 18390638 single base substitution T C exon_variant MELA-AU 3 18390908 18390908 single base substitution G A downstream_gene_variant MELA-AU 3 18390908 18390908 single base substitution G A exon_variant MELA-AU 3 18390908 18390908 single base substitution G A synonymous_variant L682L 2046C>T MELA-AU 3 18390908 18390908 single base substitution G A synonymous_variant L714L 2142C>T MELA-AU 3 18390940 18390940 single base substitution C T downstream_gene_variant MELA-AU 3 18390940 18390940 single base substitution C T exon_variant MELA-AU 3 18390940 18390940 single base substitution C T missense_variant E672K 2014G>A MELA-AU 3 18390940 18390940 single base substitution C T missense_variant E704K 2110G>A MELA-AU 3 18390968 18390968 single base substitution G A downstream_gene_variant MELA-AU 3 18390968 18390968 single base substitution G A exon_variant MELA-AU 3 18390968 18390968 single base substitution G A synonymous_variant F662F 1986C>T MELA-AU 3 18390968 18390968 single base substitution G A synonymous_variant F694F 2082C>T MELA-AU 3 18391078 18391078 single base substitution G A downstream_gene_variant MELA-AU 3 18391078 18391078 single base substitution G A exon_variant MELA-AU 3 18391078 18391078 single base substitution G A missense_variant P626S 1876C>T MELA-AU 3 18391078 18391078 single base substitution G A missense_variant P658S 1972C>T MELA-AU 3 18391090 18391090 single base substitution G A downstream_gene_variant MELA-AU 3 18391090 18391090 single base substitution G A exon_variant MELA-AU 3 18391090 18391090 single base substitution G A missense_variant P622S 1864C>T MELA-AU 3 18391090 18391090 single base substitution G A missense_variant P654S 1960C>T MELA-AU 3 18391182 18391182 single base substitution G A downstream_gene_variant MELA-AU 3 18391182 18391182 single base substitution G A exon_variant MELA-AU 3 18391182 18391182 single base substitution G A intron_variant MELA-AU 3 18391212 18391212 single base substitution C T downstream_gene_variant MELA-AU 3 18391212 18391212 single base substitution C T exon_variant MELA-AU 3 18391212 18391212 single base substitution C T intron_variant MELA-AU 3 18391245 18391245 single base substitution G A downstream_gene_variant MELA-AU 3 18391245 18391245 single base substitution G A exon_variant MELA-AU 3 18391245 18391245 single base substitution G A intron_variant MELA-AU 3 18391320 18391320 single base substitution G A downstream_gene_variant MELA-AU 3 18391320 18391320 single base substitution G A exon_variant MELA-AU 3 18391320 18391320 single base substitution G A intron_variant MELA-AU 3 18391349 18391349 single base substitution C T downstream_gene_variant MELA-AU 3 18391349 18391349 single base substitution C T exon_variant MELA-AU 3 18391349 18391349 single base substitution C T intron_variant MELA-AU 3 18391562 18391562 single base substitution G A downstream_gene_variant MELA-AU 3 18391562 18391562 single base substitution G A exon_variant MELA-AU 3 18391562 18391562 single base substitution G A intron_variant MELA-AU 3 18391626 18391626 single base substitution C T downstream_gene_variant MELA-AU 3 18391626 18391626 single base substitution C T exon_variant MELA-AU 3 18391626 18391626 single base substitution C T intron_variant MELA-AU 3 18391676 18391676 single base substitution T C downstream_gene_variant MELA-AU 3 18391676 18391676 single base substitution T C exon_variant MELA-AU 3 18391676 18391676 single base substitution T C intron_variant MELA-AU 3 18391723 18391723 single base substitution T A downstream_gene_variant MELA-AU 3 18391723 18391723 single base substitution T A exon_variant MELA-AU 3 18391723 18391723 single base substitution T A intron_variant MELA-AU 3 18392236 18392236 single base substitution G A downstream_gene_variant MELA-AU 3 18392236 18392236 single base substitution G A exon_variant MELA-AU 3 18392236 18392236 single base substitution G A intron_variant MELA-AU 3 18392742 18392742 single base substitution G A downstream_gene_variant MELA-AU 3 18392742 18392742 single base substitution G A exon_variant MELA-AU 3 18392742 18392742 single base substitution G A intron_variant MELA-AU 3 18392893 18392893 single base substitution G A downstream_gene_variant MELA-AU 3 18392893 18392893 single base substitution G A exon_variant MELA-AU 3 18392893 18392893 single base substitution G A intron_variant MELA-AU 3 18392893 18392893 single base substitution G A missense_variant S596F 1787C>T MELA-AU 3 18392907 18392907 single base substitution G A downstream_gene_variant MELA-AU 3 18392907 18392907 single base substitution G A exon_variant MELA-AU 3 18392907 18392907 single base substitution G A intron_variant MELA-AU 3 18392907 18392907 single base substitution G A splice_region_variant MELA-AU 3 18393112 18393112 single base substitution C T downstream_gene_variant MELA-AU 3 18393112 18393112 single base substitution C T exon_variant MELA-AU 3 18393112 18393112 single base substitution C T intron_variant MELA-AU 3 18393112 18393112 single base substitution C T upstream_gene_variant MELA-AU 3 18393352 18393352 single base substitution G A exon_variant MELA-AU 3 18393352 18393352 single base substitution G A intron_variant MELA-AU 3 18393352 18393352 single base substitution G A upstream_gene_variant MELA-AU 3 18393480 18393480 single base substitution G A exon_variant MELA-AU 3 18393480 18393480 single base substitution G A splice_region_variant MELA-AU 3 18393480 18393480 single base substitution G A upstream_gene_variant MELA-AU 3 18393957 18393957 single base substitution G A exon_variant MELA-AU 3 18393957 18393957 single base substitution G A intron_variant MELA-AU 3 18393957 18393957 single base substitution G A upstream_gene_variant MELA-AU 3 18393972 18393972 single base substitution G A exon_variant MELA-AU 3 18393972 18393972 single base substitution G A intron_variant MELA-AU 3 18393972 18393972 single base substitution G A upstream_gene_variant MELA-AU 3 18394537 18394537 single base substitution G A exon_variant MELA-AU 3 18394537 18394537 single base substitution G A intron_variant MELA-AU 3 18394537 18394537 single base substitution G A upstream_gene_variant MELA-AU 3 18394916 18394916 single base substitution A G intron_variant MELA-AU 3 18394916 18394916 single base substitution A G upstream_gene_variant MELA-AU 3 18395073 18395073 single base substitution G A intron_variant MELA-AU 3 18395073 18395073 single base substitution G A upstream_gene_variant MELA-AU 3 18395223 18395223 single base substitution G A intron_variant MELA-AU 3 18395223 18395223 single base substitution G A upstream_gene_variant MELA-AU 3 18395386 18395386 single base substitution C T intron_variant MELA-AU 3 18395386 18395386 single base substitution C T upstream_gene_variant MELA-AU 3 18395752 18395752 single base substitution C T intron_variant MELA-AU 3 18395752 18395752 single base substitution C T upstream_gene_variant MELA-AU 3 18395835 18395835 single base substitution G A intron_variant MELA-AU 3 18395835 18395835 single base substitution G A upstream_gene_variant MELA-AU 3 18396249 18396249 single base substitution C T intron_variant MELA-AU 3 18396249 18396249 single base substitution C T upstream_gene_variant MELA-AU 3 18396470 18396470 single base substitution C A intron_variant MELA-AU 3 18396470 18396470 single base substitution C A upstream_gene_variant MELA-AU 3 18396484 18396484 single base substitution C T intron_variant MELA-AU 3 18396484 18396484 single base substitution C T upstream_gene_variant MELA-AU 3 18396689 18396689 single base substitution C T intron_variant MELA-AU 3 18396689 18396689 single base substitution C T upstream_gene_variant MELA-AU 3 18397816 18397816 single base substitution A T intron_variant MELA-AU 3 18397816 18397816 single base substitution A T upstream_gene_variant MELA-AU 3 18398089 18398089 single base substitution T A intron_variant MELA-AU 3 18398089 18398089 single base substitution T A upstream_gene_variant MELA-AU 3 18398188 18398188 single base substitution C T intron_variant MELA-AU 3 18398188 18398188 single base substitution C T upstream_gene_variant MELA-AU 3 18398623 18398623 single base substitution C T intron_variant MELA-AU 3 18398623 18398623 single base substitution C T upstream_gene_variant MELA-AU 3 18398862 18398862 single base substitution G C intron_variant MELA-AU 3 18398862 18398862 single base substitution G C upstream_gene_variant MELA-AU 3 18399036 18399036 single base substitution T C intron_variant MELA-AU 3 18399036 18399036 single base substitution T C upstream_gene_variant MELA-AU 3 18399148 18399148 single base substitution C T intron_variant MELA-AU 3 18399148 18399148 single base substitution C T upstream_gene_variant MELA-AU 3 18399919 18399919 single base substitution G A intron_variant MELA-AU 3 18399976 18399976 single base substitution G A intron_variant MELA-AU 3 18400140 18400140 single base substitution G A intron_variant MELA-AU 3 18400251 18400251 single base substitution A C intron_variant MELA-AU 3 18400293 18400293 single base substitution T A intron_variant MELA-AU 3 18400963 18400963 single base substitution G A intron_variant MELA-AU 3 18401019 18401019 single base substitution C T intron_variant MELA-AU 3 18401041 18401041 single base substitution C T intron_variant MELA-AU 3 18401374 18401374 single base substitution C T intron_variant MELA-AU 3 18401542 18401542 single base substitution C T intron_variant MELA-AU 3 18401545 18401545 single base substitution C T intron_variant MELA-AU 3 18401559 18401559 single base substitution G A intron_variant MELA-AU 3 18402128 18402128 single base substitution C T intron_variant MELA-AU 3 18402439 18402439 single base substitution G C intron_variant MELA-AU 3 18402549 18402549 single base substitution G A intron_variant MELA-AU 3 18402921 18402921 single base substitution G A intron_variant MELA-AU 3 18402933 18402933 single base substitution C T intron_variant MELA-AU 3 18403123 18403123 single base substitution A G intron_variant MELA-AU 3 18403638 18403638 single base substitution C T intron_variant MELA-AU 3 18403871 18403871 single base substitution G A intron_variant MELA-AU 3 18404590 18404590 single base substitution G A intron_variant MELA-AU 3 18404597 18404597 single base substitution G A intron_variant MELA-AU 3 18405106 18405106 single base substitution C T intron_variant MELA-AU 3 18405260 18405260 single base substitution G A intron_variant MELA-AU 3 18405346 18405346 single base substitution C T intron_variant MELA-AU 3 18405823 18405823 single base substitution T A intron_variant MELA-AU 3 18405852 18405852 single base substitution G A intron_variant MELA-AU 3 18405969 18405969 single base substitution G A intron_variant MELA-AU 3 18406051 18406051 single base substitution G A intron_variant MELA-AU 3 18406337 18406337 single base substitution C T intron_variant MELA-AU 3 18406410 18406410 single base substitution T C intron_variant MELA-AU 3 18406932 18406932 single base substitution G A intron_variant MELA-AU 3 18407455 18407455 single base substitution C T intron_variant MELA-AU 3 18407737 18407737 single base substitution G A intron_variant MELA-AU 3 18407886 18407886 single base substitution T C intron_variant MELA-AU 3 18408599 18408599 single base substitution G A intron_variant MELA-AU 3 18408660 18408660 single base substitution C T intron_variant MELA-AU 3 18408704 18408704 single base substitution G A intron_variant MELA-AU 3 18408909 18408909 single base substitution C T intron_variant MELA-AU 3 18409068 18409068 single base substitution G A intron_variant MELA-AU 3 18409153 18409153 single base substitution C T intron_variant MELA-AU 3 18409582 18409582 single base substitution C T intron_variant MELA-AU 3 18410060 18410061 multiple base substitution (>=2bp and <=200bp) GG GA intron_variant MELA-AU 3 18410244 18410244 single base substitution G A intron_variant MELA-AU 3 18410421 18410421 single base substitution C T intron_variant MELA-AU 3 18410477 18410477 single base substitution C T intron_variant MELA-AU 3 18410505 18410505 single base substitution G A intron_variant MELA-AU 3 18410565 18410565 single base substitution C T intron_variant MELA-AU 3 18410824 18410824 single base substitution C T intron_variant MELA-AU 3 18410830 18410830 single base substitution G A intron_variant MELA-AU 3 18411217 18411217 single base substitution G A intron_variant MELA-AU 3 18411514 18411514 single base substitution G A intron_variant MELA-AU 3 18412061 18412061 single base substitution A T intron_variant MELA-AU 3 18412278 18412278 single base substitution G A intron_variant MELA-AU 3 18412372 18412372 single base substitution G A intron_variant MELA-AU 3 18412386 18412386 single base substitution C T intron_variant MELA-AU 3 18412466 18412466 single base substitution A C intron_variant MELA-AU 3 18412691 18412691 single base substitution G A intron_variant MELA-AU 3 18413012 18413012 single base substitution G A intron_variant MELA-AU 3 18413139 18413139 single base substitution T A intron_variant MELA-AU 3 18413202 18413202 single base substitution C T intron_variant MELA-AU 3 18413217 18413217 single base substitution G A intron_variant MELA-AU 3 18413568 18413568 single base substitution A G intron_variant MELA-AU 3 18413738 18413738 single base substitution C T intron_variant MELA-AU 3 18413944 18413944 single base substitution G A intron_variant MELA-AU 3 18414042 18414042 single base substitution G A intron_variant MELA-AU 3 18414334 18414334 single base substitution G A intron_variant MELA-AU 3 18414568 18414568 single base substitution G A intron_variant MELA-AU 3 18414822 18414822 single base substitution G A intron_variant MELA-AU 3 18414851 18414851 single base substitution C T intron_variant MELA-AU 3 18414875 18414875 single base substitution T A intron_variant MELA-AU 3 18415252 18415252 single base substitution G A intron_variant MELA-AU 3 18415506 18415506 single base substitution G A intron_variant MELA-AU 3 18416253 18416253 single base substitution A T intron_variant MELA-AU 3 18416670 18416670 single base substitution C T intron_variant MELA-AU 3 18417121 18417121 single base substitution C T intron_variant MELA-AU 3 18417256 18417256 single base substitution C T intron_variant MELA-AU 3 18417271 18417271 single base substitution C T intron_variant MELA-AU 3 18417279 18417279 single base substitution G T intron_variant MELA-AU 3 18417360 18417360 single base substitution G A intron_variant MELA-AU 3 18417754 18417754 single base substitution G A intron_variant MELA-AU 3 18417931 18417931 single base substitution C T intron_variant MELA-AU 3 18418274 18418274 single base substitution C T intron_variant MELA-AU 3 18418287 18418287 single base substitution C T intron_variant MELA-AU 3 18418294 18418294 single base substitution C T intron_variant MELA-AU 3 18418507 18418507 single base substitution C T intron_variant MELA-AU 3 18418633 18418633 single base substitution G A intron_variant MELA-AU 3 18418837 18418837 single base substitution G A intron_variant MELA-AU 3 18418841 18418841 single base substitution G A intron_variant MELA-AU 3 18418909 18418909 single base substitution A G intron_variant MELA-AU 3 18419037 18419037 single base substitution C T intron_variant MELA-AU 3 18419730 18419730 single base substitution G A exon_variant MELA-AU 3 18419730 18419730 single base substitution G A stop_gained Q503* 1507C>T MELA-AU 3 18420088 18420088 single base substitution G A intron_variant MELA-AU 3 18420088 18420088 single base substitution G A upstream_gene_variant MELA-AU 3 18420277 18420277 single base substitution C G intron_variant MELA-AU 3 18420277 18420277 single base substitution C G upstream_gene_variant MELA-AU 3 18420366 18420366 single base substitution C T intron_variant MELA-AU 3 18420366 18420366 single base substitution C T upstream_gene_variant MELA-AU 3 18420976 18420976 single base substitution C T intron_variant MELA-AU 3 18420976 18420976 single base substitution C T upstream_gene_variant MELA-AU 3 18421019 18421019 single base substitution T A intron_variant MELA-AU 3 18421019 18421019 single base substitution T A upstream_gene_variant MELA-AU 3 18421126 18421126 single base substitution C T intron_variant MELA-AU 3 18421126 18421126 single base substitution C T upstream_gene_variant MELA-AU 3 18421146 18421146 single base substitution G A intron_variant MELA-AU 3 18421146 18421146 single base substitution G A upstream_gene_variant MELA-AU 3 18421275 18421275 single base substitution G A intron_variant MELA-AU 3 18421275 18421275 single base substitution G A upstream_gene_variant MELA-AU 3 18421298 18421299 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 18421298 18421299 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 18421559 18421559 single base substitution G A intron_variant MELA-AU 3 18421559 18421559 single base substitution G A upstream_gene_variant MELA-AU 3 18421806 18421806 single base substitution C T intron_variant MELA-AU 3 18421806 18421806 single base substitution C T upstream_gene_variant MELA-AU 3 18421807 18421807 single base substitution G A intron_variant MELA-AU 3 18421807 18421807 single base substitution G A upstream_gene_variant MELA-AU 3 18422147 18422147 single base substitution C T intron_variant MELA-AU 3 18422147 18422147 single base substitution C T upstream_gene_variant MELA-AU 3 18422250 18422250 single base substitution G A intron_variant MELA-AU 3 18422250 18422250 single base substitution G A upstream_gene_variant MELA-AU 3 18422557 18422557 single base substitution G A intron_variant MELA-AU 3 18422557 18422557 single base substitution G A upstream_gene_variant MELA-AU 3 18422706 18422706 single base substitution G A intron_variant MELA-AU 3 18422706 18422706 single base substitution G A upstream_gene_variant MELA-AU 3 18422976 18422976 single base substitution C T intron_variant MELA-AU 3 18422976 18422976 single base substitution C T upstream_gene_variant MELA-AU 3 18423419 18423419 single base substitution C T intron_variant MELA-AU 3 18423419 18423419 single base substitution C T upstream_gene_variant MELA-AU 3 18423471 18423471 single base substitution G A intron_variant MELA-AU 3 18423471 18423471 single base substitution G A upstream_gene_variant MELA-AU 3 18423709 18423709 single base substitution T G intron_variant MELA-AU 3 18423709 18423709 single base substitution T G upstream_gene_variant MELA-AU 3 18423761 18423761 single base substitution G A intron_variant MELA-AU 3 18423761 18423761 single base substitution G A upstream_gene_variant MELA-AU 3 18423893 18423893 single base substitution C T intron_variant MELA-AU 3 18423893 18423893 single base substitution C T upstream_gene_variant MELA-AU 3 18423961 18423961 single base substitution C T intron_variant MELA-AU 3 18423961 18423961 single base substitution C T upstream_gene_variant MELA-AU 3 18424034 18424034 single base substitution A G intron_variant MELA-AU 3 18424034 18424034 single base substitution A G upstream_gene_variant MELA-AU 3 18424191 18424191 single base substitution C T intron_variant MELA-AU 3 18424191 18424191 single base substitution C T upstream_gene_variant MELA-AU 3 18424199 18424199 single base substitution G A intron_variant MELA-AU 3 18424199 18424199 single base substitution G A upstream_gene_variant MELA-AU 3 18424321 18424321 single base substitution C T intron_variant MELA-AU 3 18424321 18424321 single base substitution C T upstream_gene_variant MELA-AU 3 18424783 18424783 single base substitution C T intron_variant MELA-AU 3 18424783 18424783 single base substitution C T upstream_gene_variant MELA-AU 3 18424895 18424895 single base substitution G A intron_variant MELA-AU 3 18425059 18425059 single base substitution G A intron_variant MELA-AU 3 18425086 18425086 single base substitution G A intron_variant MELA-AU 3 18425221 18425221 single base substitution C T intron_variant MELA-AU 3 18425394 18425394 single base substitution C T intron_variant MELA-AU 3 18425442 18425442 single base substitution A T intron_variant MELA-AU 3 18425519 18425519 single base substitution G A intron_variant MELA-AU 3 18426438 18426438 single base substitution C T intron_variant MELA-AU 3 18426594 18426594 single base substitution G A intron_variant MELA-AU 3 18426746 18426746 single base substitution C T intron_variant MELA-AU 3 18426778 18426778 single base substitution T C intron_variant MELA-AU 3 18426982 18426982 single base substitution G A intron_variant MELA-AU 3 18427283 18427283 single base substitution C T intron_variant MELA-AU 3 18427368 18427368 single base substitution G A intron_variant MELA-AU 3 18427430 18427430 single base substitution G T intron_variant MELA-AU 3 18427697 18427697 single base substitution C T intron_variant MELA-AU 3 18429156 18429156 single base substitution G A intron_variant MELA-AU 3 18429208 18429208 single base substitution A T intron_variant MELA-AU 3 18429314 18429314 single base substitution A T intron_variant MELA-AU 3 18429321 18429321 single base substitution A G intron_variant MELA-AU 3 18429365 18429365 single base substitution A T intron_variant MELA-AU 3 18429948 18429948 single base substitution G A intron_variant MELA-AU 3 18430097 18430097 single base substitution G A intron_variant MELA-AU 3 18430623 18430623 single base substitution C T intron_variant MELA-AU 3 18431454 18431454 single base substitution G A intron_variant MELA-AU 3 18431583 18431583 single base substitution G A intron_variant MELA-AU 3 18431753 18431753 single base substitution G A intron_variant MELA-AU 3 18432034 18432034 single base substitution G A intron_variant MELA-AU 3 18432105 18432105 single base substitution G A intron_variant MELA-AU 3 18432268 18432268 single base substitution G A intron_variant MELA-AU 3 18432314 18432314 single base substitution C A intron_variant MELA-AU 3 18432773 18432773 single base substitution T G intron_variant MELA-AU 3 18433250 18433250 single base substitution C T intron_variant MELA-AU 3 18433761 18433761 single base substitution A G downstream_gene_variant MELA-AU 3 18433761 18433761 single base substitution A G intron_variant MELA-AU 3 18433790 18433790 single base substitution A G downstream_gene_variant MELA-AU 3 18433790 18433790 single base substitution A G intron_variant MELA-AU 3 18434026 18434026 single base substitution A G downstream_gene_variant MELA-AU 3 18434026 18434026 single base substitution A G intron_variant MELA-AU 3 18434208 18434208 single base substitution C T downstream_gene_variant MELA-AU 3 18434208 18434208 single base substitution C T intron_variant MELA-AU 3 18434247 18434247 single base substitution G A downstream_gene_variant MELA-AU 3 18434247 18434247 single base substitution G A intron_variant MELA-AU 3 18434487 18434487 single base substitution C T downstream_gene_variant MELA-AU 3 18434487 18434487 single base substitution C T intron_variant MELA-AU 3 18434694 18434694 single base substitution G A downstream_gene_variant MELA-AU 3 18434694 18434694 single base substitution G A intron_variant MELA-AU 3 18434761 18434761 single base substitution G A downstream_gene_variant MELA-AU 3 18434761 18434761 single base substitution G A intron_variant MELA-AU 3 18434857 18434857 single base substitution G T downstream_gene_variant MELA-AU 3 18434857 18434857 single base substitution G T intron_variant MELA-AU 3 18435317 18435317 single base substitution A T downstream_gene_variant MELA-AU 3 18435317 18435317 single base substitution A T intron_variant MELA-AU 3 18436108 18436108 single base substitution G A downstream_gene_variant MELA-AU 3 18436108 18436108 single base substitution G A missense_variant P351L 1052C>T MELA-AU 3 18436264 18436265 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 18436264 18436265 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P299F 895CC>TT MELA-AU 3 18436280 18436280 single base substitution G A downstream_gene_variant MELA-AU 3 18436280 18436280 single base substitution G A missense_variant P294S 880C>T MELA-AU 3 18436506 18436506 single base substitution G A downstream_gene_variant MELA-AU 3 18436506 18436506 single base substitution G A intron_variant MELA-AU 3 18436675 18436675 single base substitution C T downstream_gene_variant MELA-AU 3 18436675 18436675 single base substitution C T intron_variant MELA-AU 3 18436722 18436722 single base substitution G A downstream_gene_variant MELA-AU 3 18436722 18436722 single base substitution G A intron_variant MELA-AU 3 18436896 18436896 single base substitution A T downstream_gene_variant MELA-AU 3 18436896 18436896 single base substitution A T intron_variant MELA-AU 3 18436929 18436929 single base substitution T C downstream_gene_variant MELA-AU 3 18436929 18436929 single base substitution T C intron_variant MELA-AU 3 18437209 18437209 single base substitution C T downstream_gene_variant MELA-AU 3 18437209 18437209 single base substitution C T intron_variant MELA-AU 3 18437539 18437539 single base substitution A T downstream_gene_variant MELA-AU 3 18437539 18437539 single base substitution A T intron_variant MELA-AU 3 18437698 18437698 single base substitution C T downstream_gene_variant MELA-AU 3 18437698 18437698 single base substitution C T intron_variant MELA-AU 3 18438151 18438151 single base substitution G A downstream_gene_variant MELA-AU 3 18438151 18438151 single base substitution G A intron_variant MELA-AU 3 18438198 18438198 single base substitution G A downstream_gene_variant MELA-AU 3 18438198 18438198 single base substitution G A intron_variant MELA-AU 3 18438272 18438272 single base substitution C T downstream_gene_variant MELA-AU 3 18438272 18438272 single base substitution C T intron_variant MELA-AU 3 18438563 18438563 single base substitution G A downstream_gene_variant MELA-AU 3 18438563 18438563 single base substitution G A intron_variant MELA-AU 3 18438882 18438882 single base substitution G A intron_variant MELA-AU 3 18439141 18439141 single base substitution G A intron_variant MELA-AU 3 18439522 18439522 single base substitution G A intron_variant MELA-AU 3 18439663 18439663 single base substitution G A intron_variant MELA-AU 3 18439666 18439666 single base substitution G A intron_variant MELA-AU 3 18439767 18439767 single base substitution C A intron_variant MELA-AU 3 18439870 18439870 single base substitution C T intron_variant MELA-AU 3 18439884 18439884 single base substitution A G intron_variant MELA-AU 3 18439909 18439909 single base substitution C T intron_variant MELA-AU 3 18439940 18439940 single base substitution G A intron_variant MELA-AU 3 18439988 18439988 single base substitution G A intron_variant MELA-AU 3 18440414 18440414 single base substitution C T intron_variant MELA-AU 3 18440447 18440447 single base substitution A T intron_variant MELA-AU 3 18440596 18440596 single base substitution A T intron_variant MELA-AU 3 18440800 18440800 single base substitution T A intron_variant MELA-AU 3 18440934 18440934 single base substitution G A intron_variant MELA-AU 3 18440959 18440959 single base substitution G A intron_variant MELA-AU 3 18441053 18441053 single base substitution C T intron_variant MELA-AU 3 18441150 18441150 single base substitution C T intron_variant MELA-AU 3 18441297 18441297 single base substitution G A intron_variant MELA-AU 3 18441485 18441485 single base substitution G A intron_variant MELA-AU 3 18441762 18441762 single base substitution C T intron_variant MELA-AU 3 18442250 18442250 single base substitution C T intron_variant MELA-AU 3 18442558 18442558 single base substitution G A intron_variant MELA-AU 3 18442581 18442581 single base substitution C T intron_variant MELA-AU 3 18442726 18442726 single base substitution A C intron_variant MELA-AU 3 18442764 18442764 single base substitution C T intron_variant MELA-AU 3 18442902 18442902 single base substitution C T intron_variant MELA-AU 3 18443345 18443345 single base substitution G A intron_variant MELA-AU 3 18443635 18443635 single base substitution C T intron_variant MELA-AU 3 18443898 18443898 single base substitution C T intron_variant MELA-AU 3 18444036 18444036 single base substitution G A intron_variant MELA-AU 3 18444250 18444250 single base substitution G A intron_variant MELA-AU 3 18444584 18444584 single base substitution C T intron_variant MELA-AU 3 18444632 18444632 single base substitution G A intron_variant MELA-AU 3 18444825 18444825 single base substitution C T intron_variant MELA-AU 3 18444894 18444894 single base substitution G A intron_variant MELA-AU 3 18444912 18444912 single base substitution T A intron_variant MELA-AU 3 18445159 18445159 single base substitution A C intron_variant MELA-AU 3 18445596 18445596 single base substitution G A intron_variant MELA-AU 3 18446372 18446372 single base substitution A C intron_variant MELA-AU 3 18446457 18446457 single base substitution G A intron_variant MELA-AU 3 18446533 18446533 single base substitution C T intron_variant MELA-AU 3 18446580 18446580 single base substitution G A intron_variant MELA-AU 3 18446585 18446585 single base substitution C T intron_variant MELA-AU 3 18446697 18446697 single base substitution G A intron_variant MELA-AU 3 18447099 18447099 single base substitution G A intron_variant MELA-AU 3 18447348 18447348 single base substitution C T downstream_gene_variant MELA-AU 3 18447348 18447348 single base substitution C T intron_variant MELA-AU 3 18447474 18447475 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 18447474 18447475 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 18447787 18447787 single base substitution G A downstream_gene_variant MELA-AU 3 18447787 18447787 single base substitution G A intron_variant MELA-AU 3 18447878 18447878 single base substitution G A downstream_gene_variant MELA-AU 3 18447878 18447878 single base substitution G A intron_variant MELA-AU 3 18447886 18447886 single base substitution C T downstream_gene_variant MELA-AU 3 18447886 18447886 single base substitution C T intron_variant MELA-AU 3 18448263 18448263 single base substitution T C downstream_gene_variant MELA-AU 3 18448263 18448263 single base substitution T C intron_variant MELA-AU 3 18448294 18448294 single base substitution G A downstream_gene_variant MELA-AU 3 18448294 18448294 single base substitution G A intron_variant MELA-AU 3 18448314 18448314 single base substitution G A downstream_gene_variant MELA-AU 3 18448314 18448314 single base substitution G A intron_variant MELA-AU 3 18448450 18448450 single base substitution G A downstream_gene_variant MELA-AU 3 18448450 18448450 single base substitution G A intron_variant MELA-AU 3 18449089 18449089 single base substitution C T downstream_gene_variant MELA-AU 3 18449089 18449089 single base substitution C T intron_variant MELA-AU 3 18449630 18449630 single base substitution G A downstream_gene_variant MELA-AU 3 18449630 18449630 single base substitution G A intron_variant MELA-AU 3 18449925 18449925 single base substitution C T downstream_gene_variant MELA-AU 3 18449925 18449925 single base substitution C T intron_variant MELA-AU 3 18450564 18450564 single base substitution G A downstream_gene_variant MELA-AU 3 18450564 18450564 single base substitution G A intron_variant MELA-AU 3 18450648 18450661 deletion of <=200bp ACTCTTTTATGTTT - downstream_gene_variant MELA-AU 3 18450648 18450661 deletion of <=200bp ACTCTTTTATGTTT - intron_variant MELA-AU 3 18450850 18450850 single base substitution G A downstream_gene_variant MELA-AU 3 18450850 18450850 single base substitution G A intron_variant MELA-AU 3 18450876 18450876 single base substitution C T downstream_gene_variant MELA-AU 3 18450876 18450876 single base substitution C T intron_variant MELA-AU 3 18451055 18451055 single base substitution C T downstream_gene_variant MELA-AU 3 18451055 18451055 single base substitution C T intron_variant MELA-AU 3 18451171 18451171 single base substitution G A downstream_gene_variant MELA-AU 3 18451171 18451171 single base substitution G A intron_variant MELA-AU 3 18451509 18451509 single base substitution G A downstream_gene_variant MELA-AU 3 18451509 18451509 single base substitution G A intron_variant MELA-AU 3 18451660 18451660 single base substitution A T downstream_gene_variant MELA-AU 3 18451660 18451660 single base substitution A T intron_variant MELA-AU 3 18451857 18451857 single base substitution G A downstream_gene_variant MELA-AU 3 18451857 18451857 single base substitution G A intron_variant MELA-AU 3 18451916 18451916 single base substitution G A downstream_gene_variant MELA-AU 3 18451916 18451916 single base substitution G A intron_variant MELA-AU 3 18451960 18451960 single base substitution G A downstream_gene_variant MELA-AU 3 18451960 18451960 single base substitution G A intron_variant MELA-AU 3 18451981 18451981 single base substitution G A downstream_gene_variant MELA-AU 3 18451981 18451981 single base substitution G A intron_variant MELA-AU 3 18452127 18452127 single base substitution G A downstream_gene_variant MELA-AU 3 18452127 18452127 single base substitution G A intron_variant MELA-AU 3 18452402 18452402 single base substitution G T downstream_gene_variant MELA-AU 3 18452402 18452402 single base substitution G T exon_variant MELA-AU 3 18452402 18452402 single base substitution G T intron_variant MELA-AU 3 18452568 18452568 single base substitution G A downstream_gene_variant MELA-AU 3 18452568 18452568 single base substitution G A intron_variant MELA-AU 3 18452622 18452622 single base substitution A G downstream_gene_variant MELA-AU 3 18452622 18452622 single base substitution A G intron_variant MELA-AU 3 18452878 18452878 single base substitution G A downstream_gene_variant MELA-AU 3 18452878 18452878 single base substitution G A intron_variant MELA-AU 3 18452897 18452897 single base substitution G A downstream_gene_variant MELA-AU 3 18452897 18452897 single base substitution G A intron_variant MELA-AU 3 18452917 18452917 single base substitution C T downstream_gene_variant MELA-AU 3 18452917 18452917 single base substitution C T intron_variant MELA-AU 3 18453066 18453066 single base substitution C T downstream_gene_variant MELA-AU 3 18453066 18453066 single base substitution C T intron_variant MELA-AU 3 18453135 18453135 single base substitution C T downstream_gene_variant MELA-AU 3 18453135 18453135 single base substitution C T intron_variant MELA-AU 3 18453167 18453167 single base substitution A G downstream_gene_variant MELA-AU 3 18453167 18453167 single base substitution A G intron_variant MELA-AU 3 18453196 18453196 single base substitution C A downstream_gene_variant MELA-AU 3 18453196 18453196 single base substitution C A intron_variant MELA-AU 3 18453586 18453586 single base substitution C T downstream_gene_variant MELA-AU 3 18453586 18453586 single base substitution C T intron_variant MELA-AU 3 18453630 18453630 single base substitution G A downstream_gene_variant MELA-AU 3 18453630 18453630 single base substitution G A intron_variant MELA-AU 3 18453898 18453898 single base substitution G A downstream_gene_variant MELA-AU 3 18453898 18453898 single base substitution G A intron_variant MELA-AU 3 18454250 18454250 single base substitution G A downstream_gene_variant MELA-AU 3 18454250 18454250 single base substitution G A intron_variant MELA-AU 3 18454307 18454307 single base substitution G A downstream_gene_variant MELA-AU 3 18454307 18454307 single base substitution G A intron_variant MELA-AU 3 18454344 18454344 single base substitution G A downstream_gene_variant MELA-AU 3 18454344 18454344 single base substitution G A intron_variant MELA-AU 3 18454423 18454423 single base substitution T C downstream_gene_variant MELA-AU 3 18454423 18454423 single base substitution T C intron_variant MELA-AU 3 18454547 18454547 single base substitution G C downstream_gene_variant MELA-AU 3 18454547 18454547 single base substitution G C intron_variant MELA-AU 3 18455009 18455009 single base substitution C T downstream_gene_variant MELA-AU 3 18455009 18455009 single base substitution C T intron_variant MELA-AU 3 18455266 18455266 single base substitution G A downstream_gene_variant MELA-AU 3 18455266 18455266 single base substitution G A intron_variant MELA-AU 3 18455474 18455474 single base substitution C T downstream_gene_variant MELA-AU 3 18455474 18455474 single base substitution C T intron_variant MELA-AU 3 18455568 18455568 single base substitution A G downstream_gene_variant MELA-AU 3 18455568 18455568 single base substitution A G intron_variant MELA-AU 3 18455755 18455755 single base substitution G A downstream_gene_variant MELA-AU 3 18455755 18455755 single base substitution G A intron_variant MELA-AU 3 18455924 18455924 single base substitution G A downstream_gene_variant MELA-AU 3 18455924 18455924 single base substitution G A intron_variant MELA-AU 3 18455933 18455933 single base substitution G A downstream_gene_variant MELA-AU 3 18455933 18455933 single base substitution G A intron_variant MELA-AU 3 18456750 18456750 single base substitution G A downstream_gene_variant MELA-AU 3 18456750 18456750 single base substitution G A intron_variant MELA-AU 3 18457430 18457430 single base substitution G A downstream_gene_variant MELA-AU 3 18457430 18457430 single base substitution G A intron_variant MELA-AU 3 18457642 18457642 single base substitution G A downstream_gene_variant MELA-AU 3 18457642 18457642 single base substitution G A intron_variant MELA-AU 3 18457642 18457642 single base substitution G A upstream_gene_variant MELA-AU 3 18458635 18458635 single base substitution G A downstream_gene_variant MELA-AU 3 18458635 18458635 single base substitution G A exon_variant MELA-AU 3 18458635 18458635 single base substitution G A intron_variant MELA-AU 3 18458635 18458635 single base substitution G A upstream_gene_variant MELA-AU 3 18458769 18458769 single base substitution T C downstream_gene_variant MELA-AU 3 18458769 18458769 single base substitution T C exon_variant MELA-AU 3 18458769 18458769 single base substitution T C intron_variant MELA-AU 3 18458769 18458769 single base substitution T C upstream_gene_variant MELA-AU 3 18459049 18459049 single base substitution G A downstream_gene_variant MELA-AU 3 18459049 18459049 single base substitution G A intron_variant MELA-AU 3 18459049 18459049 single base substitution G A upstream_gene_variant MELA-AU 3 18459057 18459057 single base substitution C T downstream_gene_variant MELA-AU 3 18459057 18459057 single base substitution C T intron_variant MELA-AU 3 18459057 18459057 single base substitution C T upstream_gene_variant MELA-AU 3 18459109 18459109 single base substitution C T 3_prime_UTR_variant MELA-AU 3 18459109 18459109 single base substitution C T downstream_gene_variant MELA-AU 3 18459109 18459109 single base substitution C T intron_variant MELA-AU 3 18459109 18459109 single base substitution C T upstream_gene_variant MELA-AU 3 18459334 18459334 single base substitution G A downstream_gene_variant MELA-AU 3 18459334 18459334 single base substitution G A intron_variant MELA-AU 3 18459334 18459334 single base substitution G A upstream_gene_variant MELA-AU 3 18459520 18459520 single base substitution C T downstream_gene_variant MELA-AU 3 18459520 18459520 single base substitution C T intron_variant MELA-AU 3 18459520 18459520 single base substitution C T upstream_gene_variant MELA-AU 3 18459546 18459546 single base substitution G A downstream_gene_variant MELA-AU 3 18459546 18459546 single base substitution G A intron_variant MELA-AU 3 18459546 18459546 single base substitution G A upstream_gene_variant MELA-AU 3 18459549 18459549 single base substitution A G downstream_gene_variant MELA-AU 3 18459549 18459549 single base substitution A G intron_variant MELA-AU 3 18459549 18459549 single base substitution A G upstream_gene_variant MELA-AU 3 18459885 18459885 single base substitution C G downstream_gene_variant MELA-AU 3 18459885 18459885 single base substitution C G intron_variant MELA-AU 3 18459885 18459885 single base substitution C G upstream_gene_variant MELA-AU 3 18459959 18459959 single base substitution C T downstream_gene_variant MELA-AU 3 18459959 18459959 single base substitution C T intron_variant MELA-AU 3 18459959 18459959 single base substitution C T upstream_gene_variant MELA-AU 3 18460063 18460063 single base substitution G A downstream_gene_variant MELA-AU 3 18460063 18460063 single base substitution G A intron_variant MELA-AU 3 18460063 18460063 single base substitution G A upstream_gene_variant MELA-AU 3 18460778 18460778 single base substitution G T downstream_gene_variant MELA-AU 3 18460778 18460778 single base substitution G T intron_variant MELA-AU 3 18460778 18460778 single base substitution G T upstream_gene_variant MELA-AU 3 18460992 18460992 single base substitution A C downstream_gene_variant MELA-AU 3 18460992 18460992 single base substitution A C intron_variant MELA-AU 3 18460992 18460992 single base substitution A C upstream_gene_variant MELA-AU 3 18461753 18461753 single base substitution T A downstream_gene_variant MELA-AU 3 18461753 18461753 single base substitution T A intron_variant MELA-AU 3 18461753 18461753 single base substitution T A upstream_gene_variant MELA-AU 3 18461870 18461870 single base substitution G A downstream_gene_variant MELA-AU 3 18461870 18461870 single base substitution G A intron_variant MELA-AU 3 18461870 18461870 single base substitution G A upstream_gene_variant MELA-AU 3 18462453 18462453 single base substitution G A exon_variant MELA-AU 3 18462453 18462453 single base substitution G A missense_variant H3Y 7C>T MELA-AU 3 18462453 18462453 single base substitution G A upstream_gene_variant MELA-AU 3 18462794 18462794 single base substitution A G 5_prime_UTR_variant MELA-AU 3 18462794 18462794 single base substitution A G intron_variant MELA-AU 3 18462794 18462794 single base substitution A G upstream_gene_variant MELA-AU 3 18462894 18462894 single base substitution G T intron_variant MELA-AU 3 18462894 18462894 single base substitution G T upstream_gene_variant MELA-AU 3 18463157 18463157 single base substitution G A intron_variant MELA-AU 3 18463157 18463157 single base substitution G A upstream_gene_variant MELA-AU 3 18463380 18463380 single base substitution A C intron_variant MELA-AU 3 18463380 18463380 single base substitution A C upstream_gene_variant MELA-AU 3 18463818 18463818 single base substitution G A intron_variant MELA-AU 3 18463818 18463818 single base substitution G A upstream_gene_variant MELA-AU 3 18464073 18464073 single base substitution C T intron_variant MELA-AU 3 18464073 18464073 single base substitution C T upstream_gene_variant MELA-AU 3 18465061 18465061 single base substitution G A intron_variant MELA-AU 3 18465061 18465061 single base substitution G A upstream_gene_variant MELA-AU 3 18465282 18465282 single base substitution G A 5_prime_UTR_variant MELA-AU 3 18465282 18465282 single base substitution G A intron_variant MELA-AU 3 18465282 18465282 single base substitution G A upstream_gene_variant MELA-AU 3 18465396 18465396 single base substitution C T 5_prime_UTR_variant MELA-AU 3 18465396 18465396 single base substitution C T intron_variant MELA-AU 3 18465396 18465396 single base substitution C T upstream_gene_variant MELA-AU 3 18465653 18465653 single base substitution G A 5_prime_UTR_variant MELA-AU 3 18465653 18465653 single base substitution G A intron_variant MELA-AU 3 18465653 18465653 single base substitution G A upstream_gene_variant MELA-AU 3 18466060 18466060 single base substitution G A 5_prime_UTR_variant MELA-AU 3 18466060 18466060 single base substitution G A intron_variant MELA-AU 3 18466060 18466060 single base substitution G A upstream_gene_variant MELA-AU 3 18467057 18467057 single base substitution G A intron_variant MELA-AU 3 18467057 18467057 single base substitution G A upstream_gene_variant MELA-AU 3 18467391 18467391 single base substitution G A intron_variant MELA-AU 3 18467391 18467391 single base substitution G A upstream_gene_variant MELA-AU 3 18467758 18467758 single base substitution G A intron_variant MELA-AU 3 18467758 18467758 single base substitution G A upstream_gene_variant MELA-AU 3 18467870 18467870 single base substitution G A intron_variant MELA-AU 3 18467870 18467870 single base substitution G A upstream_gene_variant MELA-AU 3 18467975 18467975 single base substitution G A intron_variant MELA-AU 3 18467975 18467975 single base substitution G A upstream_gene_variant MELA-AU 3 18468384 18468384 single base substitution G A intron_variant MELA-AU 3 18468384 18468384 single base substitution G A upstream_gene_variant MELA-AU 3 18468584 18468584 single base substitution G A intron_variant MELA-AU 3 18468584 18468584 single base substitution G A upstream_gene_variant MELA-AU 3 18469478 18469478 single base substitution C T intron_variant MELA-AU 3 18469478 18469478 single base substitution C T upstream_gene_variant MELA-AU 3 18469610 18469610 single base substitution A T intron_variant MELA-AU 3 18469610 18469610 single base substitution A T upstream_gene_variant MELA-AU 3 18470228 18470228 single base substitution G A intron_variant MELA-AU 3 18470228 18470228 single base substitution G A upstream_gene_variant MELA-AU 3 18470380 18470380 single base substitution A G intron_variant MELA-AU 3 18470380 18470380 single base substitution A G upstream_gene_variant MELA-AU 3 18470406 18470406 single base substitution C T intron_variant MELA-AU 3 18470406 18470406 single base substitution C T upstream_gene_variant MELA-AU 3 18470677 18470677 single base substitution G A intron_variant MELA-AU 3 18470677 18470677 single base substitution G A upstream_gene_variant MELA-AU 3 18470795 18470795 single base substitution G A intron_variant MELA-AU 3 18470795 18470795 single base substitution G A upstream_gene_variant MELA-AU 3 18471124 18471124 single base substitution G A intron_variant MELA-AU 3 18471124 18471124 single base substitution G A upstream_gene_variant MELA-AU 3 18471165 18471165 single base substitution C T intron_variant MELA-AU 3 18471165 18471165 single base substitution C T upstream_gene_variant MELA-AU 3 18471546 18471546 single base substitution T C intron_variant MELA-AU 3 18471546 18471546 single base substitution T C upstream_gene_variant MELA-AU 3 18471795 18471795 single base substitution G A intron_variant MELA-AU 3 18471795 18471795 single base substitution G A upstream_gene_variant MELA-AU 3 18471812 18471812 single base substitution G A intron_variant MELA-AU 3 18471812 18471812 single base substitution G A upstream_gene_variant MELA-AU 3 18472161 18472161 single base substitution T C intron_variant MELA-AU 3 18472292 18472292 single base substitution C T intron_variant MELA-AU 3 18472524 18472524 single base substitution C T intron_variant MELA-AU 3 18473174 18473174 single base substitution G A intron_variant MELA-AU 3 18473329 18473329 single base substitution G A intron_variant MELA-AU 3 18473535 18473535 single base substitution C T intron_variant MELA-AU 3 18473762 18473762 single base substitution C T intron_variant MELA-AU 3 18473844 18473844 single base substitution C T intron_variant MELA-AU 3 18474247 18474247 single base substitution G A intron_variant MELA-AU 3 18474328 18474328 single base substitution C T intron_variant MELA-AU 3 18474345 18474345 single base substitution G C intron_variant MELA-AU 3 18474498 18474498 single base substitution G A intron_variant MELA-AU 3 18474665 18474665 single base substitution G A intron_variant MELA-AU 3 18475123 18475123 single base substitution T A intron_variant MELA-AU 3 18475465 18475465 single base substitution C A intron_variant MELA-AU 3 18475666 18475666 single base substitution C T intron_variant MELA-AU 3 18475705 18475705 single base substitution C T intron_variant MELA-AU 3 18475835 18475835 single base substitution G A intron_variant MELA-AU 3 18475842 18475842 single base substitution C T intron_variant MELA-AU 3 18476079 18476079 single base substitution G A intron_variant MELA-AU 3 18476273 18476273 single base substitution G A intron_variant MELA-AU 3 18476614 18476614 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 3 18476614 18476614 single base substitution A C intron_variant MELA-AU 3 18476618 18476618 single base substitution G A 5_prime_UTR_variant MELA-AU 3 18476618 18476618 single base substitution G A intron_variant MELA-AU 3 18476716 18476716 single base substitution G A 5_prime_UTR_variant MELA-AU 3 18476716 18476716 single base substitution G A intron_variant MELA-AU 3 18476772 18476772 single base substitution G A intron_variant MELA-AU 3 18476772 18476772 single base substitution G A upstream_gene_variant MELA-AU 3 18476773 18476773 single base substitution G A intron_variant MELA-AU 3 18476773 18476773 single base substitution G A upstream_gene_variant MELA-AU 3 18476790 18476790 single base substitution A T intron_variant MELA-AU 3 18476790 18476790 single base substitution A T upstream_gene_variant MELA-AU 3 18477118 18477118 single base substitution T A intron_variant MELA-AU 3 18477118 18477118 single base substitution T A upstream_gene_variant MELA-AU 3 18478019 18478019 single base substitution C T intron_variant MELA-AU 3 18478019 18478019 single base substitution C T upstream_gene_variant MELA-AU 3 18478242 18478242 single base substitution C T intron_variant MELA-AU 3 18478242 18478242 single base substitution C T upstream_gene_variant MELA-AU 3 18478592 18478592 single base substitution G A intron_variant MELA-AU 3 18478592 18478592 single base substitution G A upstream_gene_variant MELA-AU 3 18478649 18478649 single base substitution G A intron_variant MELA-AU 3 18478649 18478649 single base substitution G A upstream_gene_variant MELA-AU 3 18478671 18478671 single base substitution C T intron_variant MELA-AU 3 18478671 18478671 single base substitution C T upstream_gene_variant MELA-AU 3 18478917 18478917 single base substitution G A intron_variant MELA-AU 3 18478917 18478917 single base substitution G A upstream_gene_variant MELA-AU 3 18479164 18479165 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 18479164 18479165 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 18479328 18479328 single base substitution G A intron_variant MELA-AU 3 18479328 18479328 single base substitution G A upstream_gene_variant MELA-AU 3 18479400 18479400 single base substitution G A intron_variant MELA-AU 3 18479400 18479400 single base substitution G A upstream_gene_variant MELA-AU 3 18479886 18479886 single base substitution G A intron_variant MELA-AU 3 18479886 18479886 single base substitution G A upstream_gene_variant MELA-AU 3 18480207 18480207 single base substitution G A 5_prime_UTR_variant MELA-AU 3 18480207 18480207 single base substitution G A exon_variant MELA-AU 3 18480207 18480207 single base substitution G A intron_variant MELA-AU 3 18480207 18480207 single base substitution G A upstream_gene_variant MELA-AU 3 18480323 18480323 single base substitution G A intron_variant MELA-AU 3 18480323 18480323 single base substitution G A upstream_gene_variant MELA-AU 3 18480405 18480405 single base substitution C T intron_variant MELA-AU 3 18480405 18480405 single base substitution C T upstream_gene_variant MELA-AU 3 18480420 18480420 single base substitution C T intron_variant MELA-AU 3 18480420 18480420 single base substitution C T upstream_gene_variant MELA-AU 3 18480449 18480449 single base substitution G A intron_variant MELA-AU 3 18480449 18480449 single base substitution G A upstream_gene_variant MELA-AU 3 18480542 18480542 single base substitution C T intron_variant MELA-AU 3 18480542 18480542 single base substitution C T upstream_gene_variant MELA-AU 3 18480729 18480729 single base substitution G A intron_variant MELA-AU 3 18480729 18480729 single base substitution G A upstream_gene_variant MELA-AU 3 18480760 18480760 single base substitution C T intron_variant MELA-AU 3 18480760 18480760 single base substitution C T upstream_gene_variant MELA-AU 3 18481321 18481322 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 18481321 18481322 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 18481349 18481349 single base substitution C T intron_variant MELA-AU 3 18481349 18481349 single base substitution C T upstream_gene_variant MELA-AU 3 18481684 18481684 single base substitution T G intron_variant MELA-AU 3 18481684 18481684 single base substitution T G upstream_gene_variant MELA-AU 3 18481851 18481851 single base substitution G A intron_variant MELA-AU 3 18481851 18481851 single base substitution G A upstream_gene_variant MELA-AU 3 18481869 18481869 single base substitution C T intron_variant MELA-AU 3 18481869 18481869 single base substitution C T upstream_gene_variant MELA-AU 3 18482033 18482033 single base substitution C T intron_variant MELA-AU 3 18482033 18482033 single base substitution C T upstream_gene_variant MELA-AU 3 18482414 18482414 single base substitution A T intron_variant MELA-AU 3 18482414 18482414 single base substitution A T upstream_gene_variant MELA-AU 3 18482426 18482426 single base substitution C T intron_variant MELA-AU 3 18482426 18482426 single base substitution C T upstream_gene_variant MELA-AU 3 18482580 18482580 single base substitution C T intron_variant MELA-AU 3 18482580 18482580 single base substitution C T upstream_gene_variant MELA-AU 3 18482792 18482792 single base substitution C T intron_variant MELA-AU 3 18482792 18482792 single base substitution C T upstream_gene_variant MELA-AU 3 18482815 18482815 single base substitution C T intron_variant MELA-AU 3 18482815 18482815 single base substitution C T upstream_gene_variant MELA-AU 3 18482851 18482851 single base substitution G A intron_variant MELA-AU 3 18482851 18482851 single base substitution G A upstream_gene_variant MELA-AU 3 18482883 18482883 single base substitution G A intron_variant MELA-AU 3 18482883 18482883 single base substitution G A upstream_gene_variant MELA-AU 3 18482949 18482949 single base substitution A G intron_variant MELA-AU 3 18482949 18482949 single base substitution A G upstream_gene_variant MELA-AU 3 18483361 18483361 single base substitution T C intron_variant MELA-AU 3 18483361 18483361 single base substitution T C upstream_gene_variant MELA-AU 3 18483672 18483672 single base substitution C T intron_variant MELA-AU 3 18483672 18483672 single base substitution C T upstream_gene_variant MELA-AU 3 18483719 18483719 single base substitution G A intron_variant MELA-AU 3 18483719 18483719 single base substitution G A upstream_gene_variant MELA-AU 3 18484237 18484237 single base substitution A C intron_variant MELA-AU 3 18484237 18484237 single base substitution A C upstream_gene_variant MELA-AU 3 18484932 18484932 single base substitution C T intron_variant MELA-AU 3 18484932 18484932 single base substitution C T upstream_gene_variant MELA-AU 3 18485074 18485075 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 18485074 18485075 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 18485141 18485142 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 18485141 18485142 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 18485310 18485310 single base substitution C T intron_variant MELA-AU 3 18485859 18485859 single base substitution C T intron_variant MELA-AU 3 18485936 18485936 single base substitution G A intron_variant MELA-AU 3 18487003 18487003 single base substitution C T intron_variant MELA-AU 3 18487003 18487003 single base substitution C T upstream_gene_variant MELA-AU 3 18487376 18487376 single base substitution G A upstream_gene_variant MELA-AU 3 18487378 18487378 single base substitution C T upstream_gene_variant MELA-AU 3 18487691 18487691 single base substitution C T upstream_gene_variant MELA-AU 3 18487766 18487766 single base substitution G A upstream_gene_variant MELA-AU 3 18488031 18488032 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 18488067 18488067 single base substitution G A upstream_gene_variant MELA-AU 3 18488168 18488168 single base substitution C T upstream_gene_variant MELA-AU 3 18488396 18488396 single base substitution G A upstream_gene_variant MELA-AU 3 18488447 18488447 single base substitution G A upstream_gene_variant MELA-AU 3 18488459 18488459 single base substitution C T upstream_gene_variant MELA-AU 3 18488518 18488518 single base substitution C T upstream_gene_variant MELA-AU 3 18488659 18488659 single base substitution A T upstream_gene_variant MELA-AU 3 18488817 18488817 single base substitution C T upstream_gene_variant MELA-AU 3 18489052 18489052 single base substitution A T upstream_gene_variant MELA-AU 3 18489253 18489253 single base substitution C T upstream_gene_variant MELA-AU 3 18489539 18489539 single base substitution C T upstream_gene_variant MELA-AU 3 18489646 18489646 single base substitution G A upstream_gene_variant MELA-AU 3 18489652 18489652 single base substitution A G upstream_gene_variant MELA-AU 3 18489703 18489703 single base substitution G A upstream_gene_variant MELA-AU 3 18489729 18489729 single base substitution C T upstream_gene_variant MELA-AU 3 18489737 18489737 single base substitution G A upstream_gene_variant MELA-AU 3 18489958 18489958 single base substitution C T upstream_gene_variant MELA-AU 3 18490096 18490096 single base substitution C T upstream_gene_variant MELA-AU 3 18490138 18490138 single base substitution G A upstream_gene_variant MELA-AU 3 18490205 18490205 single base substitution T C upstream_gene_variant MELA-AU 3 18490466 18490466 single base substitution C T upstream_gene_variant MELA-AU 3 18490632 18490632 single base substitution C T upstream_gene_variant MELA-AU 3 18490759 18490760 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 18490803 18490803 single base substitution G A upstream_gene_variant MELA-AU 3 18490863 18490863 single base substitution C T upstream_gene_variant MELA-AU 3 18491004 18491004 single base substitution G A upstream_gene_variant MELA-AU 3 18491009 18491009 single base substitution C T upstream_gene_variant MELA-AU 3 18491011 18491011 single base substitution A T upstream_gene_variant MELA-AU 3 18491199 18491199 single base substitution C T upstream_gene_variant MELA-AU 3 18491224 18491224 single base substitution C T upstream_gene_variant MELA-AU 3 18491352 18491352 single base substitution C T upstream_gene_variant MELA-AU 3 18491420 18491420 single base substitution G A upstream_gene_variant MELA-AU 3 18491585 18491585 single base substitution T C upstream_gene_variant MELA-AU 3 18491722 18491722 single base substitution T A upstream_gene_variant MELA-AU 3 18491818 18491818 single base substitution G A upstream_gene_variant MELA-AU 3 18491868 18491868 single base substitution C T upstream_gene_variant MELA-AU 3 18491870 18491870 single base substitution G T upstream_gene_variant MELA-AU 3 18491920 18491920 single base substitution A C upstream_gene_variant MELA-AU 3 18491932 18491932 single base substitution T A upstream_gene_variant MELA-AU 3 18491934 18491934 single base substitution C T upstream_gene_variant ORCA-IN 3 18401636 18401636 single base substitution C A intron_variant ORCA-IN 3 18413862 18413862 single base substitution G A intron_variant ORCA-IN 3 18416297 18416297 single base substitution C T intron_variant ORCA-IN 3 18416446 18416446 single base substitution T C intron_variant ORCA-IN 3 18417102 18417102 deletion of <=200bp G - intron_variant ORCA-IN 3 18429204 18429204 single base substitution C T intron_variant ORCA-IN 3 18436177 18436177 single base substitution T G downstream_gene_variant ORCA-IN 3 18436177 18436177 single base substitution T G missense_variant N328T 983A>C ORCA-IN 3 18436276 18436276 single base substitution G C downstream_gene_variant ORCA-IN 3 18436276 18436276 single base substitution G C missense_variant S295C 884C>G ORCA-IN 3 18485118 18485118 single base substitution C T intron_variant ORCA-IN 3 18485118 18485118 single base substitution C T upstream_gene_variant OV-AU 3 18383109 18383109 single base substitution C G downstream_gene_variant OV-AU 3 18383471 18383471 single base substitution T C downstream_gene_variant OV-AU 3 18391747 18391747 single base substitution C T downstream_gene_variant OV-AU 3 18391747 18391747 single base substitution C T exon_variant OV-AU 3 18391747 18391747 single base substitution C T intron_variant OV-AU 3 18394898 18394898 single base substitution C A intron_variant OV-AU 3 18394898 18394898 single base substitution C A upstream_gene_variant OV-AU 3 18397410 18397410 single base substitution G C intron_variant OV-AU 3 18397410 18397410 single base substitution G C upstream_gene_variant OV-AU 3 18402723 18402723 single base substitution T C intron_variant OV-AU 3 18406175 18406175 single base substitution T C intron_variant OV-AU 3 18410238 18410238 single base substitution T G intron_variant OV-AU 3 18410471 18410471 single base substitution G A intron_variant OV-AU 3 18411431 18411431 single base substitution G A intron_variant OV-AU 3 18412073 18412073 single base substitution A G intron_variant OV-AU 3 18414634 18414634 single base substitution A T intron_variant OV-AU 3 18417548 18417548 single base substitution G A intron_variant OV-AU 3 18417549 18417549 single base substitution A G intron_variant OV-AU 3 18423797 18423797 single base substitution A T intron_variant OV-AU 3 18423797 18423797 single base substitution A T upstream_gene_variant OV-AU 3 18425138 18425138 single base substitution G A intron_variant OV-AU 3 18425660 18425660 single base substitution A T intron_variant OV-AU 3 18427855 18427855 single base substitution A C intron_variant OV-AU 3 18432841 18432841 single base substitution C G intron_variant OV-AU 3 18436353 18436353 deletion of <=200bp A - downstream_gene_variant OV-AU 3 18436353 18436353 deletion of <=200bp A - frameshift_variant F269 OV-AU 3 18438969 18438969 single base substitution G T intron_variant OV-AU 3 18440494 18440494 single base substitution G T intron_variant OV-AU 3 18448108 18448108 single base substitution G C downstream_gene_variant OV-AU 3 18448108 18448108 single base substitution G C intron_variant OV-AU 3 18448315 18448315 single base substitution A T downstream_gene_variant OV-AU 3 18448315 18448315 single base substitution A T intron_variant OV-AU 3 18452174 18452174 single base substitution A G downstream_gene_variant OV-AU 3 18452174 18452174 single base substitution A G intron_variant OV-AU 3 18455473 18455473 single base substitution T G downstream_gene_variant OV-AU 3 18455473 18455473 single base substitution T G intron_variant OV-AU 3 18464995 18464995 single base substitution C A intron_variant OV-AU 3 18464995 18464995 single base substitution C A upstream_gene_variant OV-AU 3 18464998 18464998 single base substitution C A intron_variant OV-AU 3 18464998 18464998 single base substitution C A upstream_gene_variant OV-AU 3 18466760 18466760 single base substitution C T 5_prime_UTR_variant OV-AU 3 18466760 18466760 single base substitution C T intron_variant OV-AU 3 18466760 18466760 single base substitution C T upstream_gene_variant OV-AU 3 18466814 18466814 single base substitution G C 5_prime_UTR_variant OV-AU 3 18466814 18466814 single base substitution G C intron_variant OV-AU 3 18466814 18466814 single base substitution G C upstream_gene_variant OV-AU 3 18471729 18471729 single base substitution A T intron_variant OV-AU 3 18471729 18471729 single base substitution A T upstream_gene_variant OV-AU 3 18477769 18477769 single base substitution T C intron_variant OV-AU 3 18477769 18477769 single base substitution T C upstream_gene_variant OV-AU 3 18479002 18479002 single base substitution T A intron_variant OV-AU 3 18479002 18479002 single base substitution T A upstream_gene_variant OV-AU 3 18480042 18480042 single base substitution T G intron_variant OV-AU 3 18480042 18480042 single base substitution T G upstream_gene_variant OV-AU 3 18489348 18489348 single base substitution C G upstream_gene_variant OV-AU 3 18490411 18490411 single base substitution C T upstream_gene_variant OV-AU 3 18491772 18491772 single base substitution T C upstream_gene_variant OV-US 3 18436359 18436359 single base substitution G C downstream_gene_variant OV-US 3 18436359 18436359 single base substitution G C synonymous_variant V267V 801C>G PACA-AU 3 18384237 18384237 single base substitution T C downstream_gene_variant PACA-AU 3 18387619 18387619 single base substitution A C 3_prime_UTR_variant PACA-AU 3 18387619 18387619 single base substitution A C downstream_gene_variant PACA-AU 3 18387719 18387719 single base substitution C T 3_prime_UTR_variant PACA-AU 3 18387719 18387719 single base substitution C T downstream_gene_variant PACA-AU 3 18401362 18401362 single base substitution G T intron_variant PACA-AU 3 18407754 18407754 single base substitution T C intron_variant PACA-AU 3 18407904 18407904 deletion of <=200bp T - intron_variant PACA-AU 3 18408564 18408564 single base substitution A C intron_variant PACA-AU 3 18410855 18410855 single base substitution G T intron_variant PACA-AU 3 18413072 18413072 deletion of <=200bp C - intron_variant PACA-AU 3 18415545 18415545 single base substitution T C intron_variant PACA-AU 3 18419017 18419017 single base substitution G T intron_variant PACA-AU 3 18419304 18419304 single base substitution A C intron_variant PACA-AU 3 18422056 18422056 single base substitution A T intron_variant PACA-AU 3 18422056 18422056 single base substitution A T upstream_gene_variant PACA-AU 3 18422554 18422554 single base substitution G T intron_variant PACA-AU 3 18422554 18422554 single base substitution G T upstream_gene_variant PACA-AU 3 18422555 18422555 single base substitution C T intron_variant PACA-AU 3 18422555 18422555 single base substitution C T upstream_gene_variant PACA-AU 3 18426923 18426923 single base substitution A T intron_variant PACA-AU 3 18428500 18428500 single base substitution G A intron_variant PACA-AU 3 18429567 18429567 single base substitution C T intron_variant PACA-AU 3 18429917 18429917 single base substitution T A intron_variant PACA-AU 3 18431059 18431059 single base substitution G T intron_variant PACA-AU 3 18431243 18431247 deletion of <=200bp AATTA - intron_variant PACA-AU 3 18431940 18431940 single base substitution T C intron_variant PACA-AU 3 18432662 18432662 single base substitution G A intron_variant PACA-AU 3 18436342 18436342 single base substitution G T downstream_gene_variant PACA-AU 3 18436342 18436342 single base substitution G T missense_variant P273Q 818C>A PACA-AU 3 18442243 18442243 single base substitution T G intron_variant PACA-AU 3 18442804 18442804 single base substitution C T intron_variant PACA-AU 3 18444919 18444919 single base substitution G C intron_variant PACA-AU 3 18446919 18446919 insertion of <=200bp - A intron_variant PACA-AU 3 18454583 18454583 single base substitution C G downstream_gene_variant PACA-AU 3 18454583 18454583 single base substitution C G intron_variant PACA-AU 3 18454706 18454706 single base substitution C T downstream_gene_variant PACA-AU 3 18454706 18454706 single base substitution C T intron_variant PACA-AU 3 18456189 18456189 single base substitution A T downstream_gene_variant PACA-AU 3 18456189 18456189 single base substitution A T intron_variant PACA-AU 3 18457306 18457306 single base substitution G T downstream_gene_variant PACA-AU 3 18457306 18457306 single base substitution G T intron_variant PACA-AU 3 18462392 18462392 single base substitution G A downstream_gene_variant PACA-AU 3 18462392 18462392 single base substitution G A exon_variant PACA-AU 3 18462392 18462392 single base substitution G A missense_variant P23L 68C>T PACA-AU 3 18462392 18462392 single base substitution G A upstream_gene_variant PACA-AU 3 18462490 18462490 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 3 18462490 18462490 single base substitution G T intron_variant PACA-AU 3 18462490 18462490 single base substitution G T splice_region_variant PACA-AU 3 18462490 18462490 single base substitution G T upstream_gene_variant PACA-AU 3 18466762 18466762 single base substitution C G 5_prime_UTR_variant PACA-AU 3 18466762 18466762 single base substitution C G intron_variant PACA-AU 3 18466762 18466762 single base substitution C G upstream_gene_variant PACA-AU 3 18467245 18467245 single base substitution G A intron_variant PACA-AU 3 18467245 18467245 single base substitution G A upstream_gene_variant PACA-AU 3 18468513 18468513 single base substitution T C intron_variant PACA-AU 3 18468513 18468513 single base substitution T C upstream_gene_variant PACA-AU 3 18470202 18470202 single base substitution G C intron_variant PACA-AU 3 18470202 18470202 single base substitution G C upstream_gene_variant PACA-AU 3 18471006 18471006 single base substitution C A intron_variant PACA-AU 3 18471006 18471006 single base substitution C A upstream_gene_variant PACA-AU 3 18473242 18473242 single base substitution A T intron_variant PACA-AU 3 18475366 18475366 single base substitution A T intron_variant PACA-AU 3 18475655 18475655 single base substitution T A intron_variant PACA-AU 3 18477062 18477062 single base substitution A C intron_variant PACA-AU 3 18477062 18477062 single base substitution A C upstream_gene_variant PACA-AU 3 18477720 18477720 single base substitution T A intron_variant PACA-AU 3 18477720 18477720 single base substitution T A upstream_gene_variant PACA-AU 3 18478556 18478556 single base substitution C T intron_variant PACA-AU 3 18478556 18478556 single base substitution C T upstream_gene_variant PACA-AU 3 18478957 18478957 single base substitution T G intron_variant PACA-AU 3 18478957 18478957 single base substitution T G upstream_gene_variant PACA-AU 3 18479768 18479768 single base substitution A T intron_variant PACA-AU 3 18479768 18479768 single base substitution A T upstream_gene_variant PACA-AU 3 18480411 18480411 single base substitution C G intron_variant PACA-AU 3 18480411 18480411 single base substitution C G upstream_gene_variant PACA-AU 3 18486680 18486680 single base substitution C A intron_variant PACA-AU 3 18486680 18486680 single base substitution C A upstream_gene_variant PACA-AU 3 18487511 18487511 single base substitution C T upstream_gene_variant PACA-AU 3 18487892 18487892 single base substitution G C upstream_gene_variant PACA-AU 3 18488153 18488153 single base substitution G C upstream_gene_variant PACA-CA 3 18381963 18381963 single base substitution G T downstream_gene_variant PACA-CA 3 18386817 18386817 single base substitution A G downstream_gene_variant PACA-CA 3 18390227 18390227 single base substitution C T 3_prime_UTR_variant PACA-CA 3 18390227 18390227 single base substitution C T downstream_gene_variant PACA-CA 3 18391012 18391012 single base substitution G A downstream_gene_variant PACA-CA 3 18391012 18391012 single base substitution G A exon_variant PACA-CA 3 18391012 18391012 single base substitution G A stop_gained R648* 1942C>T PACA-CA 3 18391012 18391012 single base substitution G A stop_gained R680* 2038C>T PACA-CA 3 18391232 18391232 single base substitution C T downstream_gene_variant PACA-CA 3 18391232 18391232 single base substitution C T exon_variant PACA-CA 3 18391232 18391232 single base substitution C T intron_variant PACA-CA 3 18393190 18393190 single base substitution A C downstream_gene_variant PACA-CA 3 18393190 18393190 single base substitution A C exon_variant PACA-CA 3 18393190 18393190 single base substitution A C intron_variant PACA-CA 3 18393190 18393190 single base substitution A C upstream_gene_variant PACA-CA 3 18396206 18396206 insertion of <=200bp - A intron_variant PACA-CA 3 18396206 18396206 insertion of <=200bp - A upstream_gene_variant PACA-CA 3 18396683 18396683 single base substitution G A intron_variant PACA-CA 3 18396683 18396683 single base substitution G A upstream_gene_variant PACA-CA 3 18397844 18397844 single base substitution C T intron_variant PACA-CA 3 18397844 18397844 single base substitution C T upstream_gene_variant PACA-CA 3 18398165 18398165 single base substitution C T intron_variant PACA-CA 3 18398165 18398165 single base substitution C T upstream_gene_variant PACA-CA 3 18398411 18398411 single base substitution G A intron_variant PACA-CA 3 18398411 18398411 single base substitution G A upstream_gene_variant PACA-CA 3 18398953 18398953 single base substitution C T intron_variant PACA-CA 3 18398953 18398953 single base substitution C T upstream_gene_variant PACA-CA 3 18399147 18399147 single base substitution C G intron_variant PACA-CA 3 18399147 18399147 single base substitution C G upstream_gene_variant PACA-CA 3 18403560 18403560 single base substitution T C intron_variant PACA-CA 3 18404925 18404925 single base substitution C T intron_variant PACA-CA 3 18409203 18409203 single base substitution C A intron_variant PACA-CA 3 18409399 18409399 single base substitution G A intron_variant PACA-CA 3 18410955 18410955 deletion of <=200bp T - intron_variant PACA-CA 3 18415312 18415316 deletion of <=200bp GTCAG - intron_variant PACA-CA 3 18417845 18417845 single base substitution T G intron_variant PACA-CA 3 18420778 18420778 single base substitution A T intron_variant PACA-CA 3 18420778 18420778 single base substitution A T upstream_gene_variant PACA-CA 3 18421219 18421219 single base substitution C G intron_variant PACA-CA 3 18421219 18421219 single base substitution C G upstream_gene_variant PACA-CA 3 18422055 18422055 single base substitution T A intron_variant PACA-CA 3 18422055 18422055 single base substitution T A upstream_gene_variant PACA-CA 3 18423339 18423339 single base substitution T G intron_variant PACA-CA 3 18423339 18423339 single base substitution T G upstream_gene_variant PACA-CA 3 18426141 18426141 single base substitution T C intron_variant PACA-CA 3 18426930 18426930 single base substitution C T intron_variant PACA-CA 3 18426976 18426976 single base substitution G A intron_variant PACA-CA 3 18427546 18427546 single base substitution A C intron_variant PACA-CA 3 18427946 18427946 single base substitution G A missense_variant A455V 1364C>T PACA-CA 3 18428071 18428071 single base substitution C G missense_variant E413D 1239G>C PACA-CA 3 18430612 18430612 single base substitution A G intron_variant PACA-CA 3 18431645 18431645 single base substitution G C intron_variant PACA-CA 3 18432043 18432043 single base substitution C A intron_variant PACA-CA 3 18435400 18435400 single base substitution T C downstream_gene_variant PACA-CA 3 18435400 18435400 single base substitution T C intron_variant PACA-CA 3 18435556 18435556 single base substitution A G downstream_gene_variant PACA-CA 3 18435556 18435556 single base substitution A G intron_variant PACA-CA 3 18436947 18436947 single base substitution T C downstream_gene_variant PACA-CA 3 18436947 18436947 single base substitution T C intron_variant PACA-CA 3 18437117 18437117 single base substitution A G downstream_gene_variant PACA-CA 3 18437117 18437117 single base substitution A G intron_variant PACA-CA 3 18437543 18437543 single base substitution G A downstream_gene_variant PACA-CA 3 18437543 18437543 single base substitution G A intron_variant PACA-CA 3 18444309 18444309 single base substitution C G intron_variant PACA-CA 3 18445508 18445508 single base substitution A T intron_variant PACA-CA 3 18447602 18447602 single base substitution C T downstream_gene_variant PACA-CA 3 18447602 18447602 single base substitution C T intron_variant PACA-CA 3 18451187 18451187 insertion of <=200bp - T downstream_gene_variant PACA-CA 3 18451187 18451187 insertion of <=200bp - T intron_variant PACA-CA 3 18453549 18453549 single base substitution C T downstream_gene_variant PACA-CA 3 18453549 18453549 single base substitution C T intron_variant PACA-CA 3 18457072 18457072 deletion of <=200bp G - downstream_gene_variant PACA-CA 3 18457072 18457072 deletion of <=200bp G - intron_variant PACA-CA 3 18457089 18457089 single base substitution A T downstream_gene_variant PACA-CA 3 18457089 18457089 single base substitution A T intron_variant PACA-CA 3 18457741 18457741 single base substitution G A downstream_gene_variant PACA-CA 3 18457741 18457741 single base substitution G A intron_variant PACA-CA 3 18457741 18457741 single base substitution G A upstream_gene_variant PACA-CA 3 18458101 18458101 single base substitution C T downstream_gene_variant PACA-CA 3 18458101 18458101 single base substitution C T intron_variant PACA-CA 3 18458101 18458101 single base substitution C T upstream_gene_variant PACA-CA 3 18476339 18476339 single base substitution A C intron_variant PACA-CA 3 18477765 18477765 single base substitution C T intron_variant PACA-CA 3 18477765 18477765 single base substitution C T upstream_gene_variant PACA-CA 3 18479657 18479657 single base substitution A T intron_variant PACA-CA 3 18479657 18479657 single base substitution A T upstream_gene_variant PACA-CA 3 18482702 18482702 single base substitution G A intron_variant PACA-CA 3 18482702 18482702 single base substitution G A upstream_gene_variant PACA-CA 3 18487630 18487630 single base substitution G T upstream_gene_variant PACA-CA 3 18490372 18490372 single base substitution G C upstream_gene_variant PAEN-AU 3 18393819 18393819 single base substitution A T exon_variant PAEN-AU 3 18393819 18393819 single base substitution A T intron_variant PAEN-AU 3 18393819 18393819 single base substitution A T upstream_gene_variant PAEN-AU 3 18393820 18393820 single base substitution A T exon_variant PAEN-AU 3 18393820 18393820 single base substitution A T intron_variant PAEN-AU 3 18393820 18393820 single base substitution A T upstream_gene_variant PAEN-AU 3 18414285 18414285 single base substitution A G intron_variant PAEN-AU 3 18462914 18462914 single base substitution G C intron_variant PAEN-AU 3 18462914 18462914 single base substitution G C upstream_gene_variant PAEN-AU 3 18489823 18489823 single base substitution T G upstream_gene_variant PAEN-IT 3 18393770 18393770 single base substitution C T exon_variant PAEN-IT 3 18393770 18393770 single base substitution C T intron_variant PAEN-IT 3 18393770 18393770 single base substitution C T upstream_gene_variant PAEN-IT 3 18415489 18415489 single base substitution T A intron_variant PAEN-IT 3 18420068 18420068 single base substitution A C intron_variant PAEN-IT 3 18420068 18420068 single base substitution A C upstream_gene_variant PBCA-DE 3 18382417 18382417 single base substitution G T downstream_gene_variant PBCA-DE 3 18387683 18387683 insertion of <=200bp - T 3_prime_UTR_variant PBCA-DE 3 18387683 18387683 insertion of <=200bp - T downstream_gene_variant PBCA-DE 3 18388460 18388463 deletion of <=200bp ACTA - 3_prime_UTR_variant PBCA-DE 3 18388460 18388463 deletion of <=200bp ACTA - downstream_gene_variant PBCA-DE 3 18390064 18390064 insertion of <=200bp - A 3_prime_UTR_variant PBCA-DE 3 18390064 18390064 insertion of <=200bp - A downstream_gene_variant PBCA-DE 3 18391133 18391135 deletion of <=200bp CTG - downstream_gene_variant PBCA-DE 3 18391133 18391135 deletion of <=200bp CTG - exon_variant PBCA-DE 3 18391133 18391135 deletion of <=200bp CTG - inframe_deletion Q607 PBCA-DE 3 18391133 18391135 deletion of <=200bp CTG - inframe_deletion Q639 PBCA-DE 3 18395675 18395675 single base substitution T C intron_variant PBCA-DE 3 18395675 18395675 single base substitution T C upstream_gene_variant PBCA-DE 3 18397805 18397805 single base substitution G A intron_variant PBCA-DE 3 18397805 18397805 single base substitution G A upstream_gene_variant PBCA-DE 3 18411204 18411204 insertion of <=200bp - G intron_variant PBCA-DE 3 18416112 18416112 single base substitution G A intron_variant PBCA-DE 3 18452017 18452017 single base substitution C A downstream_gene_variant PBCA-DE 3 18452017 18452017 single base substitution C A intron_variant PBCA-DE 3 18457306 18457306 single base substitution G T downstream_gene_variant PBCA-DE 3 18457306 18457306 single base substitution G T intron_variant PBCA-DE 3 18458817 18458817 single base substitution T C downstream_gene_variant PBCA-DE 3 18458817 18458817 single base substitution T C exon_variant PBCA-DE 3 18458817 18458817 single base substitution T C intron_variant PBCA-DE 3 18458817 18458817 single base substitution T C upstream_gene_variant PBCA-DE 3 18459647 18459647 single base substitution C A downstream_gene_variant PBCA-DE 3 18459647 18459647 single base substitution C A intron_variant PBCA-DE 3 18459647 18459647 single base substitution C A upstream_gene_variant PBCA-DE 3 18464788 18464788 single base substitution T C intron_variant PBCA-DE 3 18464788 18464788 single base substitution T C upstream_gene_variant PBCA-DE 3 18465352 18465352 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant PBCA-DE 3 18465352 18465352 single base substitution G C intron_variant PBCA-DE 3 18465352 18465352 single base substitution G C upstream_gene_variant PBCA-DE 3 18465816 18465816 insertion of <=200bp - C 5_prime_UTR_variant PBCA-DE 3 18465816 18465816 insertion of <=200bp - C intron_variant PBCA-DE 3 18465816 18465816 insertion of <=200bp - C upstream_gene_variant PBCA-DE 3 18483315 18483315 single base substitution C T intron_variant PBCA-DE 3 18483315 18483315 single base substitution C T upstream_gene_variant PBCA-DE 3 18489185 18489185 insertion of <=200bp - T upstream_gene_variant PBCA-DE 3 18491066 18491066 single base substitution G T upstream_gene_variant PRAD-CA 3 18393414 18393414 single base substitution G T exon_variant PRAD-CA 3 18393414 18393414 single base substitution G T intron_variant PRAD-CA 3 18393414 18393414 single base substitution G T upstream_gene_variant PRAD-CA 3 18410951 18410951 single base substitution C A intron_variant PRAD-CA 3 18415015 18415015 single base substitution T A intron_variant PRAD-CA 3 18430372 18430372 single base substitution T C intron_variant PRAD-CA 3 18464239 18464239 single base substitution A T intron_variant PRAD-CA 3 18464239 18464239 single base substitution A T upstream_gene_variant PRAD-CA 3 18474568 18474568 single base substitution G C intron_variant PRAD-UK 3 18387184 18387184 single base substitution T A 3_prime_UTR_variant PRAD-UK 3 18387184 18387184 single base substitution T A downstream_gene_variant PRAD-UK 3 18390222 18390222 single base substitution T C 3_prime_UTR_variant PRAD-UK 3 18390222 18390222 single base substitution T C downstream_gene_variant PRAD-UK 3 18400272 18400272 single base substitution T C intron_variant PRAD-UK 3 18405551 18405551 single base substitution T A intron_variant PRAD-UK 3 18426960 18426960 single base substitution A G intron_variant PRAD-UK 3 18463280 18463280 single base substitution A T intron_variant PRAD-UK 3 18463280 18463280 single base substitution A T upstream_gene_variant PRAD-UK 3 18475875 18475875 insertion of <=200bp - TA intron_variant PRAD-UK 3 18479084 18479084 single base substitution T G intron_variant PRAD-UK 3 18479084 18479084 single base substitution T G upstream_gene_variant PRAD-UK 3 18484064 18484064 single base substitution C T intron_variant PRAD-UK 3 18484064 18484064 single base substitution C T upstream_gene_variant PRAD-UK 3 18487868 18487868 single base substitution T G upstream_gene_variant PRAD-UK 3 18490201 18490201 deletion of <=200bp T - upstream_gene_variant READ-US 3 18391097 18391097 single base substitution C T downstream_gene_variant READ-US 3 18391097 18391097 single base substitution C T exon_variant READ-US 3 18391097 18391097 single base substitution C T synonymous_variant Q619Q 1857G>A READ-US 3 18391097 18391097 single base substitution C T synonymous_variant Q651Q 1953G>A RECA-EU 3 18384596 18384596 single base substitution G A downstream_gene_variant RECA-EU 3 18390940 18390940 single base substitution C T downstream_gene_variant RECA-EU 3 18390940 18390940 single base substitution C T exon_variant RECA-EU 3 18390940 18390940 single base substitution C T missense_variant E672K 2014G>A RECA-EU 3 18390940 18390940 single base substitution C T missense_variant E704K 2110G>A RECA-EU 3 18400086 18400086 single base substitution C A intron_variant RECA-EU 3 18406312 18406312 single base substitution A G intron_variant RECA-EU 3 18409748 18409748 single base substitution T A intron_variant RECA-EU 3 18413249 18413249 single base substitution C T intron_variant RECA-EU 3 18424502 18424502 single base substitution A T intron_variant RECA-EU 3 18424502 18424502 single base substitution A T upstream_gene_variant RECA-EU 3 18447305 18447305 single base substitution T C downstream_gene_variant RECA-EU 3 18447305 18447305 single base substitution T C intron_variant RECA-EU 3 18447826 18447826 single base substitution A C downstream_gene_variant RECA-EU 3 18447826 18447826 single base substitution A C intron_variant RECA-EU 3 18453261 18453261 single base substitution A C downstream_gene_variant RECA-EU 3 18453261 18453261 single base substitution A C intron_variant RECA-EU 3 18453368 18453368 single base substitution G T downstream_gene_variant RECA-EU 3 18453368 18453368 single base substitution G T intron_variant RECA-EU 3 18476301 18476301 single base substitution C T intron_variant RECA-EU 3 18476842 18476842 single base substitution A G intron_variant RECA-EU 3 18476842 18476842 single base substitution A G upstream_gene_variant RECA-EU 3 18482209 18482209 single base substitution C T intron_variant RECA-EU 3 18482209 18482209 single base substitution C T upstream_gene_variant SKCA-BR 3 18382323 18382323 single base substitution G A downstream_gene_variant SKCA-BR 3 18383527 18383527 single base substitution G A downstream_gene_variant SKCA-BR 3 18384499 18384499 single base substitution G A downstream_gene_variant SKCA-BR 3 18384675 18384675 single base substitution G A downstream_gene_variant SKCA-BR 3 18384774 18384774 single base substitution C T downstream_gene_variant SKCA-BR 3 18384965 18384965 single base substitution C T downstream_gene_variant SKCA-BR 3 18385610 18385610 single base substitution G A downstream_gene_variant SKCA-BR 3 18386140 18386140 single base substitution G A downstream_gene_variant SKCA-BR 3 18386690 18386690 single base substitution C T downstream_gene_variant SKCA-BR 3 18386727 18386727 single base substitution G A downstream_gene_variant SKCA-BR 3 18388070 18388076 deletion of <=200bp TTGTGTG - 3_prime_UTR_variant SKCA-BR 3 18388070 18388076 deletion of <=200bp TTGTGTG - downstream_gene_variant SKCA-BR 3 18388314 18388314 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 18388314 18388314 single base substitution G A downstream_gene_variant SKCA-BR 3 18389306 18389306 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 18389306 18389306 single base substitution C T downstream_gene_variant SKCA-BR 3 18390908 18390908 single base substitution G A downstream_gene_variant SKCA-BR 3 18390908 18390908 single base substitution G A exon_variant SKCA-BR 3 18390908 18390908 single base substitution G A synonymous_variant L682L 2046C>T SKCA-BR 3 18390908 18390908 single base substitution G A synonymous_variant L714L 2142C>T SKCA-BR 3 18391036 18391036 single base substitution C T downstream_gene_variant SKCA-BR 3 18391036 18391036 single base substitution C T exon_variant SKCA-BR 3 18391036 18391036 single base substitution C T missense_variant E640K 1918G>A SKCA-BR 3 18391036 18391036 single base substitution C T missense_variant E672K 2014G>A SKCA-BR 3 18391303 18391303 single base substitution A T downstream_gene_variant SKCA-BR 3 18391303 18391303 single base substitution A T exon_variant SKCA-BR 3 18391303 18391303 single base substitution A T intron_variant SKCA-BR 3 18392160 18392160 single base substitution C T downstream_gene_variant SKCA-BR 3 18392160 18392160 single base substitution C T exon_variant SKCA-BR 3 18392160 18392160 single base substitution C T intron_variant SKCA-BR 3 18393251 18393251 single base substitution G A downstream_gene_variant SKCA-BR 3 18393251 18393251 single base substitution G A exon_variant SKCA-BR 3 18393251 18393251 single base substitution G A intron_variant SKCA-BR 3 18393251 18393251 single base substitution G A upstream_gene_variant SKCA-BR 3 18393423 18393423 single base substitution C T exon_variant SKCA-BR 3 18393423 18393423 single base substitution C T intron_variant SKCA-BR 3 18393423 18393423 single base substitution C T upstream_gene_variant SKCA-BR 3 18394960 18394960 single base substitution G A intron_variant SKCA-BR 3 18394960 18394960 single base substitution G A upstream_gene_variant SKCA-BR 3 18397044 18397044 single base substitution C T intron_variant SKCA-BR 3 18397044 18397044 single base substitution C T upstream_gene_variant SKCA-BR 3 18398877 18398877 single base substitution G A intron_variant SKCA-BR 3 18398877 18398877 single base substitution G A upstream_gene_variant SKCA-BR 3 18402648 18402648 single base substitution C T intron_variant SKCA-BR 3 18402921 18402921 single base substitution G A intron_variant SKCA-BR 3 18402922 18402922 single base substitution G A intron_variant SKCA-BR 3 18404373 18404373 insertion of <=200bp - AAAAAC intron_variant SKCA-BR 3 18406669 18406669 single base substitution C T intron_variant SKCA-BR 3 18407798 18407798 single base substitution C T intron_variant SKCA-BR 3 18407812 18407812 single base substitution C T intron_variant SKCA-BR 3 18408357 18408357 single base substitution C T intron_variant SKCA-BR 3 18408772 18408772 single base substitution C T intron_variant SKCA-BR 3 18409977 18409977 single base substitution G A intron_variant SKCA-BR 3 18410153 18410153 single base substitution C T intron_variant SKCA-BR 3 18411691 18411691 single base substitution A C intron_variant SKCA-BR 3 18412446 18412446 single base substitution C T intron_variant SKCA-BR 3 18412708 18412708 single base substitution G A intron_variant SKCA-BR 3 18413012 18413012 single base substitution G A intron_variant SKCA-BR 3 18413180 18413180 single base substitution C T intron_variant SKCA-BR 3 18413944 18413944 single base substitution G A intron_variant SKCA-BR 3 18414135 18414135 single base substitution G A intron_variant SKCA-BR 3 18414616 18414616 single base substitution G A intron_variant SKCA-BR 3 18415517 18415517 single base substitution C T intron_variant SKCA-BR 3 18417179 18417179 single base substitution T C intron_variant SKCA-BR 3 18417481 18417481 single base substitution G A intron_variant SKCA-BR 3 18418078 18418078 single base substitution G A intron_variant SKCA-BR 3 18418081 18418081 single base substitution G A intron_variant SKCA-BR 3 18418576 18418576 single base substitution T C intron_variant SKCA-BR 3 18418578 18418578 single base substitution C A intron_variant SKCA-BR 3 18422297 18422297 single base substitution C T intron_variant SKCA-BR 3 18422297 18422297 single base substitution C T upstream_gene_variant SKCA-BR 3 18423165 18423165 single base substitution G A intron_variant SKCA-BR 3 18423165 18423165 single base substitution G A upstream_gene_variant SKCA-BR 3 18423528 18423528 single base substitution G A intron_variant SKCA-BR 3 18423528 18423528 single base substitution G A upstream_gene_variant SKCA-BR 3 18423545 18423545 single base substitution A T intron_variant SKCA-BR 3 18423545 18423545 single base substitution A T upstream_gene_variant SKCA-BR 3 18424582 18424582 single base substitution G A intron_variant SKCA-BR 3 18424582 18424582 single base substitution G A upstream_gene_variant SKCA-BR 3 18425833 18425833 single base substitution G A intron_variant SKCA-BR 3 18425905 18425905 single base substitution C A intron_variant SKCA-BR 3 18426178 18426178 single base substitution T A intron_variant SKCA-BR 3 18427803 18427803 single base substitution C A intron_variant SKCA-BR 3 18428938 18428938 single base substitution C T intron_variant SKCA-BR 3 18434302 18434302 single base substitution C T downstream_gene_variant SKCA-BR 3 18434302 18434302 single base substitution C T intron_variant SKCA-BR 3 18434621 18434621 single base substitution G C downstream_gene_variant SKCA-BR 3 18434621 18434621 single base substitution G C intron_variant SKCA-BR 3 18434780 18434780 single base substitution C T downstream_gene_variant SKCA-BR 3 18434780 18434780 single base substitution C T intron_variant SKCA-BR 3 18435147 18435147 single base substitution G A downstream_gene_variant SKCA-BR 3 18435147 18435147 single base substitution G A intron_variant SKCA-BR 3 18435439 18435439 single base substitution T G downstream_gene_variant SKCA-BR 3 18435439 18435439 single base substitution T G intron_variant SKCA-BR 3 18435786 18435786 single base substitution G A downstream_gene_variant SKCA-BR 3 18435786 18435786 single base substitution G A intron_variant SKCA-BR 3 18435844 18435844 single base substitution G A downstream_gene_variant SKCA-BR 3 18435844 18435844 single base substitution G A intron_variant SKCA-BR 3 18436000 18436000 single base substitution C T downstream_gene_variant SKCA-BR 3 18436000 18436000 single base substitution C T missense_variant G387E 1160G>A SKCA-BR 3 18438151 18438151 single base substitution G A downstream_gene_variant SKCA-BR 3 18438151 18438151 single base substitution G A intron_variant SKCA-BR 3 18442245 18442245 single base substitution C T intron_variant SKCA-BR 3 18442291 18442291 single base substitution A T intron_variant SKCA-BR 3 18443050 18443050 single base substitution T G intron_variant SKCA-BR 3 18444768 18444768 single base substitution C T intron_variant SKCA-BR 3 18445752 18445752 single base substitution C T intron_variant SKCA-BR 3 18446697 18446697 single base substitution G A intron_variant SKCA-BR 3 18446927 18446927 single base substitution C G intron_variant SKCA-BR 3 18449337 18449337 single base substitution C T downstream_gene_variant SKCA-BR 3 18449337 18449337 single base substitution C T intron_variant SKCA-BR 3 18451729 18451729 single base substitution G A downstream_gene_variant SKCA-BR 3 18451729 18451729 single base substitution G A intron_variant SKCA-BR 3 18452420 18452420 single base substitution G A downstream_gene_variant SKCA-BR 3 18452420 18452420 single base substitution G A exon_variant SKCA-BR 3 18452420 18452420 single base substitution G A intron_variant SKCA-BR 3 18452577 18452577 single base substitution C T downstream_gene_variant SKCA-BR 3 18452577 18452577 single base substitution C T intron_variant SKCA-BR 3 18453693 18453693 single base substitution G C downstream_gene_variant SKCA-BR 3 18453693 18453693 single base substitution G C intron_variant SKCA-BR 3 18453873 18453873 single base substitution C T downstream_gene_variant SKCA-BR 3 18453873 18453873 single base substitution C T intron_variant SKCA-BR 3 18454317 18454317 single base substitution G A downstream_gene_variant SKCA-BR 3 18454317 18454317 single base substitution G A intron_variant SKCA-BR 3 18455266 18455266 single base substitution G A downstream_gene_variant SKCA-BR 3 18455266 18455266 single base substitution G A intron_variant SKCA-BR 3 18455720 18455720 single base substitution G A downstream_gene_variant SKCA-BR 3 18455720 18455720 single base substitution G A intron_variant SKCA-BR 3 18456144 18456144 single base substitution G A downstream_gene_variant SKCA-BR 3 18456144 18456144 single base substitution G A intron_variant SKCA-BR 3 18458599 18458599 single base substitution G A downstream_gene_variant SKCA-BR 3 18458599 18458599 single base substitution G A exon_variant SKCA-BR 3 18458599 18458599 single base substitution G A intron_variant SKCA-BR 3 18458599 18458599 single base substitution G A upstream_gene_variant SKCA-BR 3 18462268 18462268 single base substitution C T downstream_gene_variant SKCA-BR 3 18462268 18462268 single base substitution C T exon_variant SKCA-BR 3 18462268 18462268 single base substitution C T missense_variant M64I 192G>A SKCA-BR 3 18462268 18462268 single base substitution C T upstream_gene_variant SKCA-BR 3 18464735 18464735 single base substitution G A intron_variant SKCA-BR 3 18464735 18464735 single base substitution G A upstream_gene_variant SKCA-BR 3 18464757 18464757 single base substitution C T intron_variant SKCA-BR 3 18464757 18464757 single base substitution C T upstream_gene_variant SKCA-BR 3 18465461 18465461 single base substitution G A 5_prime_UTR_variant SKCA-BR 3 18465461 18465461 single base substitution G A intron_variant SKCA-BR 3 18465461 18465461 single base substitution G A upstream_gene_variant SKCA-BR 3 18472652 18472652 single base substitution A T intron_variant SKCA-BR 3 18475720 18475720 single base substitution G A intron_variant SKCA-BR 3 18479394 18479394 single base substitution C T intron_variant SKCA-BR 3 18479394 18479394 single base substitution C T upstream_gene_variant SKCA-BR 3 18480276 18480276 single base substitution C T intron_variant SKCA-BR 3 18480276 18480276 single base substitution C T upstream_gene_variant SKCA-BR 3 18480542 18480542 single base substitution C T intron_variant SKCA-BR 3 18480542 18480542 single base substitution C T upstream_gene_variant SKCA-BR 3 18484601 18484601 single base substitution C T intron_variant SKCA-BR 3 18484601 18484601 single base substitution C T upstream_gene_variant SKCA-BR 3 18485075 18485075 single base substitution C T intron_variant SKCA-BR 3 18485075 18485075 single base substitution C T upstream_gene_variant SKCA-BR 3 18485098 18485098 single base substitution C T intron_variant SKCA-BR 3 18485098 18485098 single base substitution C T upstream_gene_variant SKCA-BR 3 18486708 18486708 single base substitution C T intron_variant SKCA-BR 3 18486708 18486708 single base substitution C T upstream_gene_variant SKCA-BR 3 18486897 18486897 single base substitution G A intron_variant SKCA-BR 3 18486897 18486897 single base substitution G A upstream_gene_variant SKCA-BR 3 18487614 18487614 single base substitution C T upstream_gene_variant SKCA-BR 3 18489124 18489124 single base substitution G A upstream_gene_variant SKCA-BR 3 18489967 18489967 single base substitution C T upstream_gene_variant SKCA-BR 3 18490935 18490935 single base substitution G A upstream_gene_variant SKCA-BR 3 18491523 18491523 single base substitution C T upstream_gene_variant SKCM-US 3 18390671 18390671 single base substitution C T downstream_gene_variant SKCM-US 3 18390671 18390671 single base substitution C T exon_variant SKCM-US 3 18390671 18390671 single base substitution C T synonymous_variant L761L 2283G>A SKCM-US 3 18390671 18390671 single base substitution C T synonymous_variant L793L 2379G>A SKCM-US 3 18390970 18390970 single base substitution A C downstream_gene_variant SKCM-US 3 18390970 18390970 single base substitution A C exon_variant SKCM-US 3 18390970 18390970 single base substitution A C missense_variant F662V 1984T>G SKCM-US 3 18390970 18390970 single base substitution A C missense_variant F694V 2080T>G SKCM-US 3 18390985 18390985 single base substitution C T downstream_gene_variant SKCM-US 3 18390985 18390985 single base substitution C T exon_variant SKCM-US 3 18390985 18390985 single base substitution C T missense_variant G657R 1969G>A SKCM-US 3 18390985 18390985 single base substitution C T missense_variant G689R 2065G>A SKCM-US 3 18391011 18391011 single base substitution C T downstream_gene_variant SKCM-US 3 18391011 18391011 single base substitution C T exon_variant SKCM-US 3 18391011 18391011 single base substitution C T missense_variant R648Q 1943G>A SKCM-US 3 18391011 18391011 single base substitution C T missense_variant R680Q 2039G>A SKCM-US 3 18391023 18391023 single base substitution T G downstream_gene_variant SKCM-US 3 18391023 18391023 single base substitution T G exon_variant SKCM-US 3 18391023 18391023 single base substitution T G missense_variant K644T 1931A>C SKCM-US 3 18391023 18391023 single base substitution T G missense_variant K676T 2027A>C SKCM-US 3 18391025 18391025 single base substitution C T downstream_gene_variant SKCM-US 3 18391025 18391025 single base substitution C T exon_variant SKCM-US 3 18391025 18391025 single base substitution C T synonymous_variant Q643Q 1929G>A SKCM-US 3 18391025 18391025 single base substitution C T synonymous_variant Q675Q 2025G>A SKCM-US 3 18391067 18391067 single base substitution G A downstream_gene_variant SKCM-US 3 18391067 18391067 single base substitution G A exon_variant SKCM-US 3 18391067 18391067 single base substitution G A synonymous_variant P629P 1887C>T SKCM-US 3 18391067 18391067 single base substitution G A synonymous_variant P661P 1983C>T SKCM-US 3 18391078 18391078 single base substitution G A downstream_gene_variant SKCM-US 3 18391078 18391078 single base substitution G A exon_variant SKCM-US 3 18391078 18391078 single base substitution G A missense_variant P626S 1876C>T SKCM-US 3 18391078 18391078 single base substitution G A missense_variant P658S 1972C>T SKCM-US 3 18393630 18393630 single base substitution G A exon_variant SKCM-US 3 18393630 18393630 single base substitution G A synonymous_variant L545L 1633C>T SKCM-US 3 18393630 18393630 single base substitution G A upstream_gene_variant SKCM-US 3 18393642 18393642 single base substitution C T exon_variant SKCM-US 3 18393642 18393642 single base substitution C T missense_variant E541K 1621G>A SKCM-US 3 18393642 18393642 single base substitution C T upstream_gene_variant SKCM-US 3 18393664 18393664 single base substitution G A exon_variant SKCM-US 3 18393664 18393664 single base substitution G A synonymous_variant R533R 1599C>T SKCM-US 3 18393664 18393664 single base substitution G A upstream_gene_variant SKCM-US 3 18393686 18393686 single base substitution C G exon_variant SKCM-US 3 18393686 18393686 single base substitution C G missense_variant G526A 1577G>C SKCM-US 3 18393686 18393686 single base substitution C G splice_region_variant SKCM-US 3 18393686 18393686 single base substitution C G upstream_gene_variant SKCM-US 3 18419777 18419777 single base substitution G T exon_variant SKCM-US 3 18419777 18419777 single base substitution G T missense_variant P487Q 1460C>A SKCM-US 3 18419810 18419810 single base substitution G A exon_variant SKCM-US 3 18419810 18419810 single base substitution G A missense_variant T476I 1427C>T SKCM-US 3 18427891 18427891 single base substitution C T splice_region_variant SKCM-US 3 18428094 18428094 deletion of <=200bp A - frameshift_variant S406 SKCM-US 3 18436006 18436006 single base substitution C T downstream_gene_variant SKCM-US 3 18436006 18436006 single base substitution C T missense_variant R385Q 1154G>A SKCM-US 3 18436089 18436089 single base substitution C T downstream_gene_variant SKCM-US 3 18436089 18436089 single base substitution C T missense_variant M357I 1071G>A SKCM-US 3 18436161 18436161 single base substitution C T downstream_gene_variant SKCM-US 3 18436161 18436161 single base substitution C T synonymous_variant V333V 999G>A SKCM-US 3 18436211 18436211 single base substitution C T downstream_gene_variant SKCM-US 3 18436211 18436211 single base substitution C T missense_variant V317I 949G>A SKCM-US 3 18436239 18436239 single base substitution G A downstream_gene_variant SKCM-US 3 18436239 18436239 single base substitution G A synonymous_variant L307L 921C>T SKCM-US 3 18438769 18438769 single base substitution G A exon_variant SKCM-US 3 18438769 18438769 single base substitution G A missense_variant S218F 653C>T SKCM-US 3 18456703 18456703 single base substitution G A downstream_gene_variant SKCM-US 3 18456703 18456703 single base substitution G A exon_variant SKCM-US 3 18456703 18456703 single base substitution G A missense_variant P180L 539C>T SKCM-US 3 18458484 18458484 single base substitution G A downstream_gene_variant SKCM-US 3 18458484 18458484 single base substitution G A exon_variant SKCM-US 3 18458484 18458484 single base substitution G A synonymous_variant L100L 298C>T SKCM-US 3 18458484 18458484 single base substitution G A upstream_gene_variant SKCM-US 3 18462335 18462335 single base substitution C T downstream_gene_variant SKCM-US 3 18462335 18462335 single base substitution C T exon_variant SKCM-US 3 18462335 18462335 single base substitution C T missense_variant R42K 125G>A SKCM-US 3 18462335 18462335 single base substitution C T upstream_gene_variant SKCM-US 3 18462346 18462346 single base substitution G A downstream_gene_variant SKCM-US 3 18462346 18462346 single base substitution G A exon_variant SKCM-US 3 18462346 18462346 single base substitution G A synonymous_variant S38S 114C>T SKCM-US 3 18462346 18462346 single base substitution G A upstream_gene_variant SKCM-US 3 18462396 18462396 single base substitution C T downstream_gene_variant SKCM-US 3 18462396 18462396 single base substitution C T exon_variant SKCM-US 3 18462396 18462396 single base substitution C T missense_variant D22N 64G>A SKCM-US 3 18462396 18462396 single base substitution C T upstream_gene_variant STAD-US 3 18390697 18390697 single base substitution C A downstream_gene_variant STAD-US 3 18390697 18390697 single base substitution C A exon_variant STAD-US 3 18390697 18390697 single base substitution C A stop_gained G753* 2257G>T STAD-US 3 18390697 18390697 single base substitution C A stop_gained G785* 2353G>T STAD-US 3 18390730 18390730 deletion of <=200bp A - downstream_gene_variant STAD-US 3 18390730 18390730 deletion of <=200bp A - exon_variant STAD-US 3 18390730 18390730 deletion of <=200bp A - frameshift_variant S742 STAD-US 3 18390730 18390730 deletion of <=200bp A - frameshift_variant S774 STAD-US 3 18390823 18390823 single base substitution C T downstream_gene_variant STAD-US 3 18390823 18390823 single base substitution C T exon_variant STAD-US 3 18390823 18390823 single base substitution C T missense_variant G711S 2131G>A STAD-US 3 18390823 18390823 single base substitution C T missense_variant G743S 2227G>A STAD-US 3 18390940 18390940 single base substitution C T downstream_gene_variant STAD-US 3 18390940 18390940 single base substitution C T exon_variant STAD-US 3 18390940 18390940 single base substitution C T missense_variant E672K 2014G>A STAD-US 3 18390940 18390940 single base substitution C T missense_variant E704K 2110G>A STAD-US 3 18391030 18391030 single base substitution G A downstream_gene_variant STAD-US 3 18391030 18391030 single base substitution G A exon_variant STAD-US 3 18391030 18391030 single base substitution G A stop_gained R642* 1924C>T STAD-US 3 18391030 18391030 single base substitution G A stop_gained R674* 2020C>T STAD-US 3 18391065 18391065 single base substitution G A downstream_gene_variant STAD-US 3 18391065 18391065 single base substitution G A exon_variant STAD-US 3 18391065 18391065 single base substitution G A missense_variant T630M 1889C>T STAD-US 3 18391065 18391065 single base substitution G A missense_variant T662M 1985C>T STAD-US 3 18391077 18391077 deletion of <=200bp G - downstream_gene_variant STAD-US 3 18391077 18391077 deletion of <=200bp G - exon_variant STAD-US 3 18391077 18391077 deletion of <=200bp G - frameshift_variant P626 STAD-US 3 18391077 18391077 deletion of <=200bp G - frameshift_variant P658 STAD-US 3 18393499 18393499 single base substitution T C exon_variant STAD-US 3 18393499 18393499 single base substitution T C synonymous_variant P588P 1764A>G STAD-US 3 18393499 18393499 single base substitution T C upstream_gene_variant STAD-US 3 18393520 18393520 single base substitution C T exon_variant STAD-US 3 18393520 18393520 single base substitution C T synonymous_variant P581P 1743G>A STAD-US 3 18393520 18393520 single base substitution C T upstream_gene_variant STAD-US 3 18393620 18393620 single base substitution T C exon_variant STAD-US 3 18393620 18393620 single base substitution T C missense_variant N548S 1643A>G STAD-US 3 18393620 18393620 single base substitution T C upstream_gene_variant STAD-US 3 18427901 18427901 single base substitution C T missense_variant R470H 1409G>A STAD-US 3 18427971 18427971 single base substitution C T missense_variant E447K 1339G>A STAD-US 3 18428081 18428081 single base substitution C T missense_variant R410Q 1229G>A STAD-US 3 18435984 18435984 single base substitution T C downstream_gene_variant STAD-US 3 18435984 18435984 single base substitution T C synonymous_variant V392V 1176A>G STAD-US 3 18436246 18436246 single base substitution G T downstream_gene_variant STAD-US 3 18436246 18436246 single base substitution G T missense_variant P305H 914C>A STAD-US 3 18456611 18456611 deletion of <=200bp G - downstream_gene_variant STAD-US 3 18456611 18456611 deletion of <=200bp G - exon_variant STAD-US 3 18456611 18456611 deletion of <=200bp G - frameshift_variant L211 STAD-US 3 18456661 18456661 single base substitution T G downstream_gene_variant STAD-US 3 18456661 18456661 single base substitution T G exon_variant STAD-US 3 18456661 18456661 single base substitution T G missense_variant K194T 581A>C STAD-US 3 18456690 18456690 single base substitution C T downstream_gene_variant STAD-US 3 18456690 18456690 single base substitution C T exon_variant STAD-US 3 18456690 18456690 single base substitution C T stop_gained W184* 552G>A STAD-US 3 18457551 18457551 single base substitution C G downstream_gene_variant STAD-US 3 18457551 18457551 single base substitution C G exon_variant STAD-US 3 18457551 18457551 single base substitution C G missense_variant D155H 463G>C STAD-US 3 18457585 18457585 single base substitution A C downstream_gene_variant STAD-US 3 18457585 18457585 single base substitution A C exon_variant STAD-US 3 18457585 18457585 single base substitution A C synonymous_variant S143S 429T>G STAD-US 3 18458392 18458392 single base substitution A G downstream_gene_variant STAD-US 3 18458392 18458392 single base substitution A G splice_donor_variant STAD-US 3 18458392 18458392 single base substitution A G upstream_gene_variant STAD-US 3 18462397 18462397 single base substitution A G downstream_gene_variant STAD-US 3 18462397 18462397 single base substitution A G exon_variant STAD-US 3 18462397 18462397 single base substitution A G synonymous_variant S21S 63T>C STAD-US 3 18462397 18462397 single base substitution A G upstream_gene_variant THCA-SA 3 18466565 18466565 single base substitution T C 5_prime_UTR_variant THCA-SA 3 18466565 18466565 single base substitution T C intron_variant THCA-SA 3 18466565 18466565 single base substitution T C upstream_gene_variant UCEC-US 3 18390688 18390688 single base substitution C A downstream_gene_variant UCEC-US 3 18390688 18390688 single base substitution C A exon_variant UCEC-US 3 18390688 18390688 single base substitution C A missense_variant D756Y 2266G>T UCEC-US 3 18390688 18390688 single base substitution C A missense_variant D788Y 2362G>T UCEC-US 3 18390802 18390802 single base substitution C G downstream_gene_variant UCEC-US 3 18390802 18390802 single base substitution C G exon_variant UCEC-US 3 18390802 18390802 single base substitution C G missense_variant E718Q 2152G>C UCEC-US 3 18390802 18390802 single base substitution C G missense_variant E750Q 2248G>C UCEC-US 3 18390812 18390812 single base substitution G A downstream_gene_variant UCEC-US 3 18390812 18390812 single base substitution G A exon_variant UCEC-US 3 18390812 18390812 single base substitution G A synonymous_variant V714V 2142C>T UCEC-US 3 18390812 18390812 single base substitution G A synonymous_variant V746V 2238C>T UCEC-US 3 18390845 18390845 single base substitution G A downstream_gene_variant UCEC-US 3 18390845 18390845 single base substitution G A exon_variant UCEC-US 3 18390845 18390845 single base substitution G A synonymous_variant H703H 2109C>T UCEC-US 3 18390845 18390845 single base substitution G A synonymous_variant H735H 2205C>T UCEC-US 3 18391008 18391008 single base substitution G C downstream_gene_variant UCEC-US 3 18391008 18391008 single base substitution G C exon_variant UCEC-US 3 18391008 18391008 single base substitution G C missense_variant T649R 1946C>G UCEC-US 3 18391008 18391008 single base substitution G C missense_variant T681R 2042C>G UCEC-US 3 18391082 18391082 single base substitution G A downstream_gene_variant UCEC-US 3 18391082 18391082 single base substitution G A exon_variant UCEC-US 3 18391082 18391082 single base substitution G A synonymous_variant L624L 1872C>T UCEC-US 3 18391082 18391082 single base substitution G A synonymous_variant L656L 1968C>T UCEC-US 3 18391112 18391112 single base substitution T C downstream_gene_variant UCEC-US 3 18391112 18391112 single base substitution T C exon_variant UCEC-US 3 18391112 18391112 single base substitution T C synonymous_variant P614P 1842A>G UCEC-US 3 18391112 18391112 single base substitution T C synonymous_variant P646P 1938A>G UCEC-US 3 18391132 18391132 insertion of <=200bp - CTG downstream_gene_variant UCEC-US 3 18391132 18391132 insertion of <=200bp - CTG exon_variant UCEC-US 3 18391132 18391132 insertion of <=200bp - CTG inframe_insertion A608AA UCEC-US 3 18391132 18391132 insertion of <=200bp - CTG inframe_insertion A640AA UCEC-US 3 18391137 18391137 single base substitution T C downstream_gene_variant UCEC-US 3 18391137 18391137 single base substitution T C exon_variant UCEC-US 3 18391137 18391137 single base substitution T C missense_variant Q606R 1817A>G UCEC-US 3 18391137 18391137 single base substitution T C missense_variant Q638R 1913A>G UCEC-US 3 18393598 18393598 single base substitution G A exon_variant UCEC-US 3 18393598 18393598 single base substitution G A synonymous_variant F555F 1665C>T UCEC-US 3 18393598 18393598 single base substitution G A upstream_gene_variant UCEC-US 3 18393678 18393678 single base substitution A C exon_variant UCEC-US 3 18393678 18393678 single base substitution A C missense_variant C529G 1585T>G UCEC-US 3 18393678 18393678 single base substitution A C upstream_gene_variant UCEC-US 3 18427986 18427986 single base substitution G A stop_gained R442* 1324C>T UCEC-US 3 18428048 18428048 single base substitution G T missense_variant S421Y 1262C>A UCEC-US 3 18435961 18435961 single base substitution C A downstream_gene_variant UCEC-US 3 18435961 18435961 single base substitution C A missense_variant R400I 1199G>T UCEC-US 3 18436007 18436007 single base substitution G A downstream_gene_variant UCEC-US 3 18436007 18436007 single base substitution G A stop_gained R385* 1153C>T UCEC-US 3 18436040 18436040 single base substitution C T downstream_gene_variant UCEC-US 3 18436040 18436040 single base substitution C T missense_variant E374K 1120G>A UCEC-US 3 18436062 18436062 single base substitution C T downstream_gene_variant UCEC-US 3 18436062 18436062 single base substitution C T synonymous_variant S366S 1098G>A UCEC-US 3 18436153 18436153 single base substitution A C downstream_gene_variant UCEC-US 3 18436153 18436153 single base substitution A C missense_variant L336R 1007T>G UCEC-US 3 18436333 18436333 single base substitution C T downstream_gene_variant UCEC-US 3 18436333 18436333 single base substitution C T missense_variant G276E 827G>A UCEC-US 3 18438719 18438719 single base substitution C A downstream_gene_variant UCEC-US 3 18438719 18438719 single base substitution C A exon_variant UCEC-US 3 18438719 18438719 single base substitution C A stop_gained E235* 703G>T UCEC-US 3 18458493 18458493 single base substitution C A downstream_gene_variant UCEC-US 3 18458493 18458493 single base substitution C A exon_variant UCEC-US 3 18458493 18458493 single base substitution C A stop_gained E97* 289G>T UCEC-US 3 18458493 18458493 single base substitution C A upstream_gene_variant UCEC-US 3 18458517 18458517 single base substitution A C downstream_gene_variant UCEC-US 3 18458517 18458517 single base substitution A C exon_variant UCEC-US 3 18458517 18458517 single base substitution A C missense_variant Y89D 265T>G UCEC-US 3 18458517 18458517 single base substitution A C upstream_gene_variant UCEC-US 3 18458526 18458526 single base substitution C T downstream_gene_variant UCEC-US 3 18458526 18458526 single base substitution C T exon_variant UCEC-US 3 18458526 18458526 single base substitution C T missense_variant A86T 256G>A UCEC-US 3 18458526 18458526 single base substitution C T upstream_gene_variant UCEC-US 3 18462366 18462366 single base substitution G A downstream_gene_variant UCEC-US 3 18462366 18462366 single base substitution G A exon_variant UCEC-US 3 18462366 18462366 single base substitution G A missense_variant R32C 94C>T UCEC-US 3 18462366 18462366 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 T3118 COSM1421153 c.1806G>A p.Q602Q Substitution - coding silent 3:18349656-18349656 - TCGA-AP-A051-01 COSM1042102 c.1007T>G p.L336R Substitution - Missense 3:18394661-18394661 - TCGA-B7-5816-01 COSM4115829 c.552G>A p.W184* Substitution - Nonsense 3:18415198-18415198 - C547 COSM1042100 c.1153C>T p.R385* Substitution - Nonsense 3:18394515-18394515 - 2492723 COSM5719974 c.645G>A p.M215I Substitution - Missense 3:18397285-18397285 - TCGA-BR-8367-01 COSM4115679 c.2131G>A p.G711S Substitution - Missense 3:18349331-18349331 - TCGA-BR-4362-01 COSM4115820 c.914C>A p.P305H Substitution - Missense 3:18394754-18394754 - HCC71T COSM1186211 c.746T>C p.M249T Substitution - Missense 3:18397184-18397184 - YUPAER COSM5398746 c.1978C>T p.Q660* Substitution - Nonsense 3:18349484-18349484 - PDA_062 COSM5001217 c.889C>T p.R297W Substitution - Missense 3:18394779-18394779 - 40M COSM5586466 c.1588G>A p.E530K Substitution - Missense 3:18352183-18352183 - ME024T COSM226063 c.67C>T p.P23S Substitution - Missense 3:18420901-18420901 - TCGA-A2-A0T5-01 COSM3846900 c.1401A>C p.P467P Substitution - coding silent 3:18386417-18386417 - RK080_C01 COSM1633030 c.259A>C p.I87L Substitution - Missense 3:18417031-18417031 - TCGA-GN-A266-06 COSM3590650 c.1929G>A p.Q643Q Substitution - coding silent 3:18349533-18349533 - TCGA-BS-A0UV-01 COSM1042120 c.265T>G p.Y89D Substitution - Missense 3:18417025-18417025 - PCSI_0169_Pa_P_526 COSM5127223 c.1942C>T p.R648* Substitution - Nonsense 3:18349520-18349520 - TCGA-BS-A0UF-01 COSM1041953 c.2142C>T p.V714V Substitution - coding silent 3:18349320-18349320 - Pat_08_B COSM1724269 c.1819_1821delCAG p.Q607delQ Deletion - In frame 3:18349641-18349643 - PCSI_0010_Pa_X COSM3380473 c.1239G>C p.E413D Substitution - Missense 3:18386579-18386579 - TCGA-FW-A3TV-06 COSM3590827 c.949G>A p.V317I Substitution - Missense 3:18394719-18394719 - ESO-0115 COSM1264883 c.2100C>G p.L700L Substitution - coding silent 3:18349362-18349362 - HCC38T COSM1617282 c.367A>G p.S123G Substitution - Missense 3:18416923-18416923 - ICC009T COSM5823547 c.752-2A>T p.? Unknown 3:18394918-18394918 - PT49 COSM5934820 c.137G>A p.G46E Substitution - Missense 3:18420831-18420831 - LOVO COSM3331571 c.783G>A p.Q261Q Substitution - coding silent 3:18394885-18394885 - TCGA-F4-6856-01 COSM1421152 c.1877delC p.P626fs*81 Deletion - Frameshift 3:18349585-18349585 - HCC156T COSM3660397 c.125G>T p.R42I Substitution - Missense 3:18420843-18420843 - ESCC_28 COSM5627350 c.1837C>T p.Q613* Substitution - Nonsense 3:18349625-18349625 - HCC163 COSM3660396 c.463G>A p.D155N Substitution - Missense 3:18416059-18416059 - HCC156 COSM3660397 c.125G>T p.R42I Substitution - Missense 3:18420843-18420843 - TCGA-FW-A3R5-06 COSM3915461 c.1943G>A p.R648Q Substitution - Missense 3:18349519-18349519 - LB2518-MEL COSM25340 c.1513G>A p.E505K Substitution - Missense 3:18378232-18378232 - TCGA-D7-6528-01 COSM4115801 c.1409G>A p.R470H Substitution - Missense 3:18386409-18386409 - TCGA-BR-8680-01 COSM4115802 c.1339G>A p.E447K Substitution - Missense 3:18386479-18386479 - sysucc-880T COSM5463239 c.401T>C p.V134A Substitution - Missense 3:18416121-18416121 - TCGA-BS-A0UV-01 COSM1042085 c.1262C>A p.S421Y Substitution - Missense 3:18386556-18386556 - CSCC-29-T COSM4466058 c.1414C>T p.P472S Substitution - Missense 3:18386404-18386404 - TCGA-AJ-A23M-01 COSM1041963 c.1585T>G p.C529G Substitution - Missense 3:18352186-18352186 - CSCC-7-T COSM4477563 c.2067C>T p.I689I Substitution - coding silent 3:18349395-18349395 - PT21_2 COSM5901271 c.1448G>A p.R483K Substitution - Missense 3:18378297-18378297 - PCSI_0083_Pa_P COSM3380472 c.1364C>T p.A455V Substitution - Missense 3:18386454-18386454 - TCGA-AN-A046-01 COSM3846904 c.943C>A p.Q315K Substitution - Missense 3:18394725-18394725 - LUAD-E01317 COSM403792 c.480G>T p.V160V Substitution - coding silent 3:18416042-18416042 - TCGA-JX-A3Q0-01 COSM4824556 c.1392C>G p.I464M Substitution - Missense 3:18386426-18386426 - TCGA-A6-2679-01 COSM5082398 c.1718C>G p.A573G Substitution - Missense 3:18352053-18352053 - TCGA-EE-A20C-06 COSM3590652 c.1876C>T p.P626S Substitution - Missense 3:18349586-18349586 - SC_9047 COSM5554308 c.1985T>C p.F662S Substitution - Missense 3:18349477-18349477 - 2492720 COSM5719973 c.941C>T p.P314L Substitution - Missense 3:18394727-18394727 - 60T COSM110324 c.2202T>C p.D734D Substitution - coding silent 3:18349260-18349260 - PT37 COSM5918227 c.1084G>A p.E362K Substitution - Missense 3:18394584-18394584 - TCGA-AP-A0LM-01 COSM1042119 c.289G>T p.E97* Substitution - Nonsense 3:18417001-18417001 - TCGA-AO-A03M-01 COSM3846908 c.703G>C p.E235Q Substitution - Missense 3:18397227-18397227 - TCGA-FW-A3R5-06 COSM3915495 c.64G>A p.D22N Substitution - Missense 3:18420904-18420904 - XHDG04 COSM4768073 c.2070C>G p.I690M Substitution - Missense 3:18349392-18349392 - HCC49 COSM1617276 c.1207-9T>G p.? Unknown 3:18386620-18386620 - SA210 COSM213856 c.1584G>C p.L528F Substitution - Missense 3:18352187-18352187 - TCGA-HU-A4GX-01 COSM4115687 c.1743G>A p.P581P Substitution - coding silent 3:18352028-18352028 - TCGA-ER-A19P-06 COSM3590804 c.1460C>A p.P487Q Substitution - Missense 3:18378285-18378285 - TCGA-FW-A3R5-06 COSM3915491 c.539C>T p.P180L Substitution - Missense 3:18415211-18415211 - Pat_45_B COSM5864019 c.2216C>T p.T739I Substitution - Missense 3:18349246-18349246 - 2492723 COSM5719973 c.941C>T p.P314L Substitution - Missense 3:18394727-18394727 - TCGA-D1-A174-01 COSM1041956 c.1946C>G p.T649R Substitution - Missense 3:18349516-18349516 - TCGA-EE-A29S-06 COSM3590653 c.1599C>T p.R533R Substitution - coding silent 3:18352172-18352172 - HCC71 COSM1186211 c.746T>C p.M249T Substitution - Missense 3:18397184-18397184 - HN_62481 COSM126016 c.95G>A p.R32H Substitution - Missense 3:18420873-18420873 - TCGA-29-1763-01 COSM1327693 c.1229G>A p.R410Q Substitution - Missense 3:18386589-18386589 - ATL016 COSM5708633 c.333C>G p.I111M Substitution - Missense 3:18416957-18416957 - DLD1 COSM3331572 c.777A>G p.L259L Substitution - coding silent 3:18394891-18394891 - TCGA-B6-A0X5-01 COSM446079 c.2143G>A p.D715N Substitution - Missense 3:18349319-18349319 - TCGA-G3-A25U-01 COSM4910955 c.549A>G p.Q183Q Substitution - coding silent 3:18415201-18415201 - 587220 COSM1224696 c.1364C>A p.A455D Substitution - Missense 3:18386454-18386454 - TCGA-CG-4305-01 COSM4115835 c.463G>C p.D155H Substitution - Missense 3:18416059-18416059 - 2492722 COSM5719973 c.941C>T p.P314L Substitution - Missense 3:18394727-18394727 - NPC29F COSM4996313 c.105G>T p.Q35H Substitution - Missense 3:18420863-18420863 - TCGA-ER-A19F-06 COSM3590840 c.114C>T p.S38S Substitution - coding silent 3:18420854-18420854 - TCGA-BS-A0U7-01 COSM1042130 c.94C>T p.R32C Substitution - Missense 3:18420874-18420874 - TCGA-22-5491-01 COSM730179 c.884C>T p.S295F Substitution - Missense 3:18394784-18394784 - TCGA-AX-A05Z-01 COSM1042099 c.1199G>T p.R400I Substitution - Missense 3:18394469-18394469 - TCGA-D7-6818-01 COSM4115836 c.429T>G p.S143S Substitution - coding silent 3:18416093-18416093 - TCGA-22-0944-01 COSM730180 c.884C>G p.S295C Substitution - Missense 3:18394784-18394784 - TCGA-EP-A2KA-01 COSM4115688 c.1643A>G p.N548S Substitution - Missense 3:18352128-18352128 - TCGA-AO-A03M-01 COSM3846910 c.529G>C p.E177Q Substitution - Missense 3:18415221-18415221 - ccRCC-88 COSM1664038 c.301G>A p.V101M Substitution - Missense 3:18416989-18416989 - TCGA-AA-A02R-01 COSM5127223 c.1942C>T p.R648* Substitution - Nonsense 3:18349520-18349520 - 2492721 COSM5719973 c.941C>T p.P314L Substitution - Missense 3:18394727-18394727 - TCGA-DD-A39Y-01 COSM4934454 c.1385C>A p.P462H Substitution - Missense 3:18386433-18386433 - TCGA-DD-A11C-01 COSM4925558 c.933T>A p.P311P Substitution - coding silent 3:18394735-18394735 - TCGA-FW-A3TV-06 COSM3590826 c.999G>A p.V333V Substitution - coding silent 3:18394669-18394669 - CRC-02T COSM5455171 c.223C>T p.P75S Substitution - Missense 3:18417067-18417067 - OSCC-GB_00070111 COSM730180 c.884C>G p.S295C Substitution - Missense 3:18394784-18394784 - TCGA-D3-A5GO-06 COSM3590828 c.653C>T p.S218F Substitution - Missense 3:18397277-18397277 - HN_62426 COSM121793 c.1464G>A p.E488E Substitution - coding silent 3:18378281-18378281 - ME009T COSM222783 c.20C>T p.A7V Substitution - Missense 3:18420948-18420948 - TCGA-BS-A0TC-01 COSM1042121 c.256G>A p.A86T Substitution - Missense 3:18417034-18417034 - SNU-175 COSM3330749 c.1587C>T p.C529C Substitution - coding silent 3:18352184-18352184 - CSB20 COSM5025907 c.117G>C p.P39P Substitution - coding silent 3:18420851-18420851 - TCGA-D1-A17Q-01 COSM1042104 c.703G>T p.E235* Substitution - Nonsense 3:18397227-18397227 - TCGA-FP-A4BE-01 COSM4115678 c.2257G>T p.G753* Substitution - Nonsense 3:18349205-18349205 - TCGA-AD-6889-01 COSM1421151 c.1924C>T p.R642* Substitution - Nonsense 3:18349538-18349538 - TCGA-85-6561-01 COSM729565 c.1719G>C p.A573A Substitution - coding silent 3:18352052-18352052 - 345973 COSM3726407 c.1919A>G p.E640G Substitution - Missense 3:18349543-18349543 - CSCC-16-T COSM4525818 c.1356G>C p.L452F Substitution - Missense 3:18386462-18386462 - ESCC_62 COSM5633138 c.2200G>C p.D734H Substitution - Missense 3:18349262-18349262 - TCGA-13-0903-01 COSM81682 c.801C>G p.V267V Substitution - coding silent 3:18394867-18394867 - Pat_05_A COSM5864021 c.1846C>T p.Q616* Substitution - Nonsense 3:18349616-18349616 - LAU165 COSM235313 c.2067C>A p.I689I Substitution - coding silent 3:18349395-18349395 - TCGA-RP-A693-06 COSM4895819 c.1621G>A p.E541K Substitution - Missense 3:18352150-18352150 - T3225 COSM4115820 c.914C>A p.P305H Substitution - Missense 3:18394754-18394754 - LS411 COSM3331660 c.51T>C p.S17S Substitution - coding silent 3:18420917-18420917 - TCGA-A3-3316-01 COSM1495468 c.2219T>A p.L740H Substitution - Missense 3:18349243-18349243 - TCGA-BR-A453-01 COSM4115682 c.2014G>A p.E672K Substitution - Missense 3:18349448-18349448 - TCGA-AP-A056-01 COSM1042101 c.1120G>A p.E374K Substitution - Missense 3:18394548-18394548 - NPC2F COSM4996310 c.694A>C p.K232Q Substitution - Missense 3:18397236-18397236 - CHEWS019 COSM4584154 c.426G>C p.L142L Substitution - coding silent 3:18416096-18416096 - TCGA-EE-A29B-06 COSM3590654 c.1577G>C p.G526A Substitution - Missense 3:18352194-18352194 - TCGA-D1-A17F-01 COSM1041960 c.1821_1822insCAG p.Q607_A608insQ Insertion - In frame 3:18349640-18349641 - TCGA-FV-A4ZP-01 COSM4929398 c.2098C>G p.L700V Substitution - Missense 3:18349364-18349364 - TCGA-FW-A3R5-06 COSM3915494 c.298C>T p.L100L Substitution - coding silent 3:18416992-18416992 - 7T COSM730180 c.884C>G p.S295C Substitution - Missense 3:18394784-18394784 - T3174 COSM4723700 c.1053C>A p.P351P Substitution - coding silent 3:18394615-18394615 - TCGA-AA-3815-01 COSM1421184 c.482A>G p.Y161C Substitution - Missense 3:18416040-18416040 - PT37 COSM5918228 c.1955C>T p.S652L Substitution - Missense 3:18349507-18349507 - pfg181T COSM4750658 c.790G>A p.A264T Substitution - Missense 3:18394878-18394878 - TCGA-09-1675-01 COSM1327694 c.1785G>A p.Q595Q Substitution - coding silent 3:18349677-18349677 - TCGA-CD-8536-01 COSM4115837 c.388+2T>C p.? Unknown 3:18416900-18416900 - QC2-30-T2 COSM5653600 c.639+2T>G p.? Unknown 3:18415109-18415109 - TCGA-GN-A267-06 COSM3590839 c.125G>A p.R42K Substitution - Missense 3:18420843-18420843 - CSCC-49-T COSM4528989 c.1577G>A p.G526E Substitution - Missense 3:18352194-18352194 - T263 COSM1041954 c.2109C>T p.H703H Substitution - coding silent 3:18349353-18349353 - TCGA-GV-A3QG-01 COSM1308898 c.1356G>A p.L452L Substitution - coding silent 3:18386462-18386462 - 4_PRE-TREATMENT COSM1724269 c.1819_1821delCAG p.Q607delQ Deletion - In frame 3:18349641-18349643 - LB647-SCLC COSM23370 c.1716C>A p.N572K Substitution - Missense 3:18352055-18352055 - TCGA-A8-A09Z-01 COSM3846903 c.1137A>G p.V379V Substitution - coding silent 3:18394531-18394531 - TCGA-BR-A4CQ-01 COSM4115819 c.1176A>G p.V392V Substitution - coding silent 3:18394492-18394492 - PD4844a COSM164182 c.851C>G p.S284C Substitution - Missense 3:18394817-18394817 - TCGA-D8-A1XK-01 COSM3846906 c.748A>G p.M250V Substitution - Missense 3:18397182-18397182 - TCGA-F5-6814-01 COSM3427387 c.1857G>A p.Q619Q Substitution - coding silent 3:18349605-18349605 - CHEWS033 COSM4584153 c.543C>G p.P181P Substitution - coding silent 3:18415207-18415207 - 2492721 COSM5719974 c.645G>A p.M215I Substitution - Missense 3:18397285-18397285 - TCGA-EE-A3AE-06 COSM3590825 c.1071G>A p.M357I Substitution - Missense 3:18394597-18394597 - TCGA-CM-5861-01 COSM1421153 c.1806G>A p.Q602Q Substitution - coding silent 3:18349656-18349656 - ESO-117 COSM1264884 c.2072A>C p.K691T Substitution - Missense 3:18349390-18349390 - TCGA-D1-A163-01 COSM1042100 c.1153C>T p.R385* Substitution - Nonsense 3:18394515-18394515 - CSB12 COSM5025906 c.2055C>T p.P685P Substitution - coding silent 3:18349407-18349407 - P157 COSM1737671 c.72G>T p.K24N Substitution - Missense 3:18420896-18420896 - TCGA-BR-7703-01 COSM4115683 c.1889C>T p.T630M Substitution - Missense 3:18349573-18349573 - TCGA-FI-A2F8-01 COSM1041952 c.2152G>C p.E718Q Substitution - Missense 3:18349310-18349310 - LC_C33 COSM1186211 c.746T>C p.M249T Substitution - Missense 3:18397184-18397184 - CSCC-27-T COSM4476339 c.1965C>T p.A655A Substitution - coding silent 3:18349497-18349497 - TCGA-AX-A0J1-01 COSM1041957 c.1872C>T p.L624L Substitution - coding silent 3:18349590-18349590 - C0054T COSM4115682 c.2014G>A p.E672K Substitution - Missense 3:18349448-18349448 - TCGA-BR-4362-01 COSM1421151 c.1924C>T p.R642* Substitution - Nonsense 3:18349538-18349538 - TCGA-FW-A3R5-06 COSM3915490 c.921C>T p.L307L Substitution - coding silent 3:18394747-18394747 - TCGA-AM-5820-01 COSM3759907 c.1386C>A p.P462P Substitution - coding silent 3:18386432-18386432 - TCGA-EE-A29S-06 COSM3590649 c.1931A>C p.K644T Substitution - Missense 3:18349531-18349531 - TCGA-B5-A11E-01 COSM1041962 c.1665C>T p.F555F Substitution - coding silent 3:18352106-18352106 - TCGA-B5-A0K6-01 COSM1042103 c.827G>A p.G276E Substitution - Missense 3:18394841-18394841 - TCGA-D3-A3MV-06 COSM3590824 c.1154G>A p.R385Q Substitution - Missense 3:18394514-18394514 - TCGA-24-1849-01 COSM1327695 c.1960G>A p.E654K Substitution - Missense 3:18349502-18349502 - TCGA-FW-A3R5-06 COSM3915462 c.1887C>T p.P629P Substitution - coding silent 3:18349575-18349575 - TCGA-DM-A1HB-01 COSM5169142 c.439G>A p.D147N Substitution - Missense 3:18416083-18416083 - TCGA-24-1849-01 COSM1327696 c.2082G>A p.Q694Q Substitution - coding silent 3:18349380-18349380 - TCGA-D1-A103-01 COSM284792 c.1098G>A p.S366S Substitution - coding silent 3:18394570-18394570 - LIM2405 COSM1042121 c.256G>A p.A86T Substitution - Missense 3:18417034-18417034 - CSCC-31-T COSM4521414 c.1110G>A p.E370E Substitution - coding silent 3:18394558-18394558 - TCGA-BR-A4QL-01 COSM4115688 c.1643A>G p.N548S Substitution - Missense 3:18352128-18352128 - YUGISMO COSM1692450 c.614T>C p.L205S Substitution - Missense 3:18415136-18415136 - TCGA-66-2785-01 COSM729572 c.2244G>C p.E748D Substitution - Missense 3:18349218-18349218 - TCGA-G4-6304-01 COSM1421173 c.858G>A p.A286A Substitution - coding silent 3:18394810-18394810 - 49M COSM5592974 c.1602G>A p.W534* Substitution - Nonsense 3:18352169-18352169 - TCGA-BH-A18G-01 COSM3846905 c.857C>T p.A286V Substitution - Missense 3:18394811-18394811 - BD87T COSM5505151 c.498G>T p.L166F Substitution - Missense 3:18416024-18416024 - 2492720 COSM5719974 c.645G>A p.M215I Substitution - Missense 3:18397285-18397285 - TCGA-BR-6452-01 COSM4115828 c.581A>C p.K194T Substitution - Missense 3:18415169-18415169 - TCGA-AP-A054-01 COSM1041954 c.2109C>T p.H703H Substitution - coding silent 3:18349353-18349353 - LUAD-LC15C COSM341933 c.2118G>A p.L706L Substitution - coding silent 3:18349344-18349344 - HCC109 COSM1421184 c.482A>G p.Y161C Substitution - Missense 3:18416040-18416040 - PCSI_0083_Pa_X COSM3380472 c.1364C>T p.A455V Substitution - Missense 3:18386454-18386454 - TCGA-EB-A3XB-01 COSM3330704 c.2283G>A p.L761L Substitution - coding silent 3:18349179-18349179 - TCGA-BH-A0B6-01 COSM3846878 c.2188G>A p.E730K Substitution - Missense 3:18349274-18349274 - J73_T COSM3945218 c.1611T>C p.D537D Substitution - coding silent 3:18352160-18352160 - TCGA-E2-A14W-01 COSM446116 c.317T>A p.L106H Substitution - Missense 3:18416973-18416973 - TCGA-FS-A1ZZ-06 COSM3590806 c.1419G>A p.Q473Q Substitution - coding silent 3:18386399-18386399 - LUAD-E01014 COSM394008 c.1338C>T p.D446D Substitution - coding silent 3:18386480-18386480 - PD4958a COSM5788142 c.1475T>A p.M492K Substitution - Missense 3:18378270-18378270 - SNU-175 COSM3331568 c.1139G>A p.R380H Substitution - Missense 3:18394529-18394529 - TCGA-G4-6628-01 COSM1421171 c.1004G>T p.R335I Substitution - Missense 3:18394664-18394664 - TCGA-CA-6718-01 COSM1421172 c.961C>A p.L321M Substitution - Missense 3:18394707-18394707 - TCGA-BR-4361-01 COSM4115686 c.1764A>G p.P588P Substitution - coding silent 3:18352007-18352007 - TCGA-A6-6648-01 COSM1421150 c.2139G>C p.E713D Substitution - Missense 3:18349323-18349323 - TCGA-D5-6931-01 COSM5166735 c.1556T>G p.V519G Substitution - Missense 3:18378189-18378189 - TCGA-BQ-5882-01 COSM3992905 c.1782A>T p.Q594H Substitution - Missense 3:18349680-18349680 - TCGA-AA-A00Z-01 COSM299030 c.885T>G p.S295S Substitution - coding silent 3:18394783-18394783 - 2492722 COSM5719974 c.645G>A p.M215I Substitution - Missense 3:18397285-18397285 - Sample_1 COSM3759907 c.1386C>A p.P462P Substitution - coding silent 3:18386432-18386432 - TCGA-D5-6928-01 COSM1421192 c.157C>T p.Q53* Substitution - Nonsense 3:18420811-18420811 - Au10 COSM5598745 c.1119C>G p.S373S Substitution - coding silent 3:18394549-18394549 - HCC163T COSM3660396 c.463G>A p.D155N Substitution - Missense 3:18416059-18416059 - Pat_16_A COSM5864022 c.1730A>T p.H577L Substitution - Missense 3:18352041-18352041 - T2929 COSM4723701 c.914C>T p.P305L Substitution - Missense 3:18394754-18394754 - STC263 COSM5059545 c.989A>G p.Q330R Substitution - Missense 3:18394679-18394679 - 422_T COSM3945217 c.1766C>A p.A589E Substitution - Missense 3:18352005-18352005 - TCGA-AO-A03M-01 COSM3846907 c.704A>T p.E235V Substitution - Missense 3:18397226-18397226 - PD4844a COSM164182 c.851C>G p.S284C Substitution - Missense 3:18394817-18394817 - TCGA-CG-5721-01 COSM4115838 c.63T>C p.S21S Substitution - coding silent 3:18420905-18420905 - PD24336a COSM1421173 c.858G>A p.A286A Substitution - coding silent 3:18394810-18394810 - ESOSCC152T COSM446079 c.2143G>A p.D715N Substitution - Missense 3:18349319-18349319 - TCGA-A6-6780-01 COSM1421156 c.1554G>T p.K518N Substitution - Missense 3:18378191-18378191 - T3262 COSM4723698 c.1550C>T p.A517V Substitution - Missense 3:18378195-18378195 - HCC38 COSM1617282 c.367A>G p.S123G Substitution - Missense 3:18416923-18416923 - TCGA-HW-8319-01 COSM3974298 c.1189G>T p.A397S Substitution - Missense 3:18394479-18394479 - TCGA-BF-A3DL-01 COSM4904502 c.1633C>T p.L545L Substitution - coding silent 3:18352138-18352138 - TCGA-AX-A0J1-01 COSM1042084 c.1324C>T p.R442* Substitution - Nonsense 3:18386494-18386494 - 49M COSM5592973 c.1901C>T p.P634L Substitution - Missense 3:18349561-18349561 - T3503 COSM4723702 c.890G>A p.R297Q Substitution - Missense 3:18394778-18394778 - EWS502 COSM4584155 c.111G>A p.G37G Substitution - coding silent 3:18420857-18420857 - T3498 COSM4115688 c.1643A>G p.N548S Substitution - Missense 3:18352128-18352128 - TCGA-FS-A1ZZ-06 COSM3590648 c.1969G>A p.G657R Substitution - Missense 3:18349493-18349493 - HCT8 COSM3331572 c.777A>G p.L259L Substitution - coding silent 3:18394891-18394891 - OSCC-GB_01040111 COSM4886192 c.983A>C p.N328T Substitution - Missense 3:18394685-18394685 - YUDUTY COSM1692449 c.1649C>T p.S550F Substitution - Missense 3:18352122-18352122 - HCT15 COSM3331572 c.777A>G p.L259L Substitution - coding silent 3:18394891-18394891 - 1731645 COSM25340 c.1513G>A p.E505K Substitution - Missense 3:18378232-18378232 - HCC030T COSM5815981 c.514A>T p.S172C Substitution - Missense 3:18416008-18416008 - TCGA-AP-A056-01 COSM1041951 c.2266G>T p.D756Y Substitution - Missense 3:18349196-18349196 - TCGA-FV-A3R2-01 COSM4929328 c.85A>C p.K29Q Substitution - Missense 3:18420883-18420883 - TCGA-EE-A3AF-06 COSM3590805 c.1427C>T p.T476I Substitution - Missense 3:18378318-18378318 - TCGA-BS-A0TA-01 COSM1041961 c.1817A>G p.Q606R Substitution - Missense 3:18349645-18349645 - HCC49T COSM1617276 c.1207-9T>G p.? Unknown 3:18386620-18386620 - PD4606a COSM5778052 c.1757A>G p.H586R Substitution - Missense 3:18352014-18352014 - Pat_07_B COSM1724269 c.1819_1821delCAG p.Q607delQ Deletion - In frame 3:18349641-18349643 - CSCC-55-T COSM4539995 c.276G>A p.K92K Substitution - coding silent 3:18417014-18417014 - TCGA-AA-A010-01 COSM284792 c.1098G>A p.S366S Substitution - coding silent 3:18394570-18394570 - SJHGG001_A COSM4968677 c.1178_1184delTTGCACG p.F393fs*30 Deletion - Frameshift 3:18394484-18394490 - TCGA-AA-3693-01 COSM268337 c.1055C>T p.P352L Substitution - Missense 3:18394613-18394613 - Pat_16_B COSM5864022 c.1730A>T p.H577L Substitution - Missense 3:18352041-18352041 - TCGA-AP-A056-01 COSM1041959 c.1842A>G p.P614P Substitution - coding silent 3:18349620-18349620 - TCGA-46-6025-01 COSM730177 c.447T>C p.P149P Substitution - coding silent 3:18416075-18416075 - TCGA-CG-5721-01 COSM1327693 c.1229G>A p.R410Q Substitution - Missense 3:18386589-18386589 - 8058344 COSM3392252 c.818C>A p.P273Q Substitution - Missense 3:18394850-18394850 - TCGA-43-5668-01 COSM730194 c.1390A>C p.I464L Substitution - Missense 3:18386428-18386428 - 8015259 COSM3392254 c.68C>T p.P23L Substitution - Missense 3:18420900-18420900 - TCGA-MH-A561-01 COSM3992904 c.2018A>G p.E673G Substitution - Missense 3:18349444-18349444 - T3064 COSM4723699 c.1055delC p.P352fs*6 Deletion - Frameshift 3:18394613-18394613 - LUAD-B01811 COSM334517 c.1638G>C p.W546C Substitution - Missense 3:18352133-18352133 - HCC109T COSM1421184 c.482A>G p.Y161C Substitution - Missense 3:18416040-18416040 - TCGA-FR-A44A-06 COSM3590647 c.1984T>G p.F662V Substitution - Missense 3:18349478-18349478 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.517717 3p23 602075

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.C529G c.1585T>G 3 18393678 UCEC A C Synonymous p.S143S c.429T>G 3 18457585 STAD A C Synonymous p.S295S c.885T>G 3 18436275 COREAD A G Synonymous p.P149P c.447T>C 3 18457567 LUSC A T Missense p.L106H c.317T>A 3 18458465 BRCA C A IntronicSNV . c.1575+37G>T 3 18419625 NSCLC C A IntronicSNV . c.212-1077G>T 3 18459647 MB C A Missense p.A230S c.688G>T 3 18438734 CM C A Missense p.D715Y c.2143G>T 3 18390907 LUAD C A Missense p.L452F c.1356G>T 3 18427954 LUAD C G Missense p.D155H c.463G>C 3 18457551 STAD C G Missense p.E750Q c.2248G>C 3 18390802 UCEC C G Missense p.G526A c.1577G>C 3 18393686 CM C G Missense p.L528F c.1584G>C 3 18393679 BRCA C G Synonymous p.A573A c.1719G>C 3 18393544 LUSC C G Synonymous p.P39P c.117G>C 3 18462343 BRCA - CTG MultiAAMissense p.Q639delinsHR c.1916_1917insCAG 3 18391133 UCEC C T Missense p.A86T c.256G>A 3 18458526 UCEC C T Missense p.D747N c.2239G>A 3 18390811 BRCA C T Missense p.G276E c.827G>A 3 18436333 CM C T Missense p.G276E c.827G>A 3 18436333 UCEC C T Missense p.G689R c.2065G>A 3 18390985 CM C T Missense p.M357I c.1071G>A 3 18436089 CM C T Missense p.R32H c.95G>A 3 18462365 HNSC C T Missense p.R385Q c.1154G>A 3 18436006 CM C T Missense p.R42K c.125G>A 3 18462335 CM C T Missense p.R470H c.1409G>A 3 18427901 STAD C T Nonsense p.W184* c.552G>A 3 18456690 STAD C T Synonymous p.E488E c.1464G>A 3 18419773 HNSC C T Synonymous p.L452L c.1356G>A 3 18427954 BLCA C T Synonymous p.Q473Q c.1419G>A 3 18427891 CM C T Synonymous p.R238R c.714G>A 3 18438708 CM G A IntronicSNV . c.212-73C>T 3 18458643 CM G A IntronicSNV . c.639+1417C>T 3 18455186 CLL G A Missense p.A573V c.1718C>T 3 18393545 HNSC G A Missense p.P23S c.67C>T 3 18462393 CM G A Missense p.P275S c.823C>T 3 18436337 CM G A Missense p.P352L c.1055C>T 3 18436105 COREAD G A Missense p.P658S c.1972C>T 3 18391078 CM G A Missense p.R32C c.94C>T 3 18462366 UCEC G A Missense p.R655W c.1963C>T 3 18391087 HNSC G A Missense p.S295F c.884C>T 3 18436276 LUSC G A Missense p.S684L c.2051C>T 3 18390999 CM G A Missense p.T476I c.1427C>T 3 18419810 CM G A Nonsense p.R385* c.1153C>T 3 18436007 UCEC G A Synonymous p.H735H c.2205C>T 3 18390845 UCEC G A Synonymous p.L545L c.1633C>T 3 18393630 CM G A Synonymous p.P717P c.2151C>T 3 18390899 BRCA G A Synonymous p.R533R c.1599C>T 3 18393664 CM G A Synonymous p.S38S c.114C>T 3 18462346 CM G A Synonymous p.T720T c.2160C>T 3 18390890 CM G C 5-UTRSNV . c.1-2893C>G 3 18465352 MB G C Missense p.I375M c.1125C>G 3 18436035 CM G C Missense p.L732V c.2194C>G 3 18390856 HNSC G C Missense p.S284C c.851C>G 3 18436309 BRCA G C Missense p.S295C c.884C>G 3 18436276 LUSC G C Missense p.T681R c.2042C>G 3 18391008 UCEC G C Synonymous p.L732L c.2196C>G 3 18390854 ESCA G C Synonymous p.V267V c.801C>G 3 18436359 OV GT AG Missense p.D703A c.2108_2109delinsCT 3 18390941 CM G T Missense p.P487Q c.1460C>A 3 18419777 CM G T Missense p.P654T c.1960C>A 3 18391090 HNSC G T Missense p.Q692K c.2074C>A 3 18390976 LUAD T A Missense p.Q169L c.506A>T 3 18457508 LUAD T C IntronicSNV . c.212-247A>G 3 18458817 MB T C Missense p.Q638R c.1913A>G 3 18391137 UCEC T G Missense p.I464L c.1390A>C 3 18427920 LUSC T G Missense p.K676T c.2027A>C 3 18391023 CM T G Missense p.K723T c.2168A>C 3 18390882 ESCA TT - Frameshift p.D441Pfs*41 c.1317_1318delAA 3 18427992 LUAD