Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 215593707 215593707 + Missense_Mutation SNP T T C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr2:215593707T>C c.2027A>G c.(2026-2028)tAc>tGc p.Y676C BLCA 2 215609878 215609878 + Missense_Mutation SNP G G C TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 g.chr2:215609878G>C c.1816C>G c.(1816-1818)Cat>Gat p.H606D BLCA 2 215632218 215632218 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr2:215632218G>C c.1556C>G c.(1555-1557)tCc>tGc p.S519C BLCA 2 215634032 215634032 + Missense_Mutation SNP T T C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr2:215634032T>C c.1319A>G c.(1318-1320)gAc>gGc p.D440G BLCA 2 215645654 215645654 + Missense_Mutation SNP G G A TCGA-FD-A6TF-01A-52D-A32B-08 TCGA-FD-A6TF-10A-21D-A329-08 g.chr2:215645654G>A c.944C>T c.(943-945)cCa>cTa p.P315L BLCA 2 215645910 215645910 + Missense_Mutation SNP C C T TCGA-E7-A5KE-01A-11D-A289-08 TCGA-E7-A5KE-10A-01D-A289-08 g.chr2:215645910C>T c.688G>A c.(688-690)Gac>Aac p.D230N BLCA 2 215645993 215645993 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr2:215645993G>C c.605C>G c.(604-606)tCt>tGt p.S202C BLCA 2 215657050 215657050 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr2:215657050C>T c.335G>A c.(334-336)cGa>cAa p.R112Q BLCA 2 215661801 215661801 + Missense_Mutation SNP C C G TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chr2:215661801C>G c.199G>C c.(199-201)Gag>Cag p.E67Q BLCA 2 215674209 215674209 + Missense_Mutation SNP C C A TCGA-XF-A9SP-01A-11D-A391-08 TCGA-XF-A9SP-10A-01D-A394-08 g.chr2:215674209C>A c.85G>T c.(85-87)Gat>Tat p.D29Y BRCA 2 215610501 215610501 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:215610501G>A c.1755C>T c.(1753-1755)ctC>ctT p.L585L BRCA 2 215657118 215657118 + Silent SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 g.chr2:215657118C>T c.267G>A c.(265-267)ccG>ccA p.P89P CESC 2 215645790 215645790 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr2:215645790C>T c.808G>A c.(808-810)Gaa>Aaa p.E270K CESC 2 215645796 215645796 + Missense_Mutation SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr2:215645796C>T c.802G>A c.(802-804)Gaa>Aaa p.E268K CESC 2 215645934 215645934 + Missense_Mutation SNP C C A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 g.chr2:215645934C>A c.664G>T c.(664-666)Gca>Tca p.A222S CESC 2 215645967 215645968 + Frame_Shift_Ins INS - - C TCGA-EX-A1H5-01A-31D-A13W-08 TCGA-EX-A1H5-10A-01D-A13W-08 g.chr2:215645967_215645968insC c.630_631insG c.(628-633)actttafs p.L211fs CESC 2 215646072 215646072 + Nonsense_Mutation SNP G G A TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr2:215646072G>A c.526C>T c.(526-528)Cag>Tag p.Q176* COAD 2 215593481 215593481 + Silent SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr2:215593481C>T c.2253G>A c.(2251-2253)cgG>cgA p.R751R COAD 2 215593695 215593695 + Nonsense_Mutation SNP C C T TCGA-AA-3812-01A-01W-0900-09 TCGA-AA-3812-10A-01W-0900-09 g.chr2:215593695C>T c.2039G>A c.(2038-2040)tGg>tAg p.W680* COAD 2 215610450 215610450 + Silent SNP A A G TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr2:215610450A>G c.1806T>C c.(1804-1806)agT>agC p.S602S COAD 2 215610452 215610452 + Missense_Mutation SNP T T A TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr2:215610452T>A c.1804A>T c.(1804-1806)Agt>Tgt p.S602C COAD 2 215633973 215633973 + Missense_Mutation SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr2:215633973C>T c.1378G>A c.(1378-1380)Gct>Act p.A460T COAD 2 215634028 215634028 + Missense_Mutation SNP T T C TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:215634028T>C c.1323A>G c.(1321-1323)atA>atG p.I441M COAD 2 215645684 215645684 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:215645684T>G c.914A>C c.(913-915)aAa>aCa p.K305T COAD 2 215646051 215646051 + Missense_Mutation SNP C C G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr2:215646051C>G c.547G>C c.(547-549)Gtt>Ctt p.V183L COAD 2 215646109 215646109 + Silent SNP C C T TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr2:215646109C>T c.489G>A c.(487-489)gtG>gtA p.V163V COAD 2 215646176 215646176 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:215646176T>G c.422A>C c.(421-423)aAt>aCt p.N141T COADREAD 2 215593481 215593481 + Silent SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr2:215593481C>T c.2253G>A c.(2251-2253)cgG>cgA p.R751R COADREAD 2 215593695 215593695 + Nonsense_Mutation SNP C C T TCGA-AA-3812-01A-01W-0900-09 TCGA-AA-3812-10A-01W-0900-09 g.chr2:215593695C>T c.2039G>A c.(2038-2040)tGg>tAg p.W680* COADREAD 2 215593697 215593697 + Missense_Mutation SNP C C A TCGA-AG-3601-01A-01W-0833-10 TCGA-AG-3601-10A-01W-0833-10 g.chr2:215593697C>A c.2037G>T c.(2035-2037)ttG>ttT p.L679F COADREAD 2 215610450 215610450 + Silent SNP A A G TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr2:215610450A>G c.1806T>C c.(1804-1806)agT>agC p.S602S COADREAD 2 215610452 215610452 + Missense_Mutation SNP T T A TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr2:215610452T>A c.1804A>T c.(1804-1806)Agt>Tgt p.S602C COADREAD 2 215633973 215633973 + Missense_Mutation SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr2:215633973C>T c.1378G>A c.(1378-1380)Gct>Act p.A460T COADREAD 2 215634028 215634028 + Missense_Mutation SNP T T C TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:215634028T>C c.1323A>G c.(1321-1323)atA>atG p.I441M COADREAD 2 215645684 215645684 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:215645684T>G c.914A>C c.(913-915)aAa>aCa p.K305T COADREAD 2 215645739 215645739 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:215645739C>A c.859G>T c.(859-861)Gag>Tag p.E287* COADREAD 2 215646051 215646051 + Missense_Mutation SNP C C G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr2:215646051C>G c.547G>C c.(547-549)Gtt>Ctt p.V183L COADREAD 2 215646109 215646109 + Silent SNP C C T TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr2:215646109C>T c.489G>A c.(487-489)gtG>gtA p.V163V COADREAD 2 215646176 215646176 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:215646176T>G c.422A>C c.(421-423)aAt>aCt p.N141T COADREAD 2 215646178 215646178 + Missense_Mutation SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr2:215646178C>A c.420G>T c.(418-420)aaG>aaT p.K140N DLBC 2 215657089 215657089 + Missense_Mutation SNP C C T TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr2:215657089C>T c.296G>A c.(295-297)aGa>aAa p.R99K ESCA 2 215593433 215593433 + Silent SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr2:215593433C>G c.2301G>C c.(2299-2301)gtG>gtC p.V767V ESCA 2 215609878 215609878 + Missense_Mutation SNP G G T TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 g.chr2:215609878G>T c.1816C>A c.(1816-1818)Cat>Aat p.H606N ESCA 2 215645798 215645798 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 g.chr2:215645798G>T c.800C>A c.(799-801)aCa>aAa p.T267K ESCA 2 215646099 215646099 + Missense_Mutation SNP G G T TCGA-2H-A9GQ-01A-11D-A37C-09 TCGA-2H-A9GQ-11A-11D-A37F-09 g.chr2:215646099G>T c.499C>A c.(499-501)Cct>Act p.P167T ESCA 2 215646173 215646173 + Nonsense_Mutation SNP G G T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 g.chr2:215646173G>T c.425C>A c.(424-426)tCa>tAa p.S142* ESCA 2 215646207 215646208 + Frame_Shift_Del DEL TT TT - TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 g.chr2:215646207_215646208delTT c.390_391delAA c.(388-393)aaaagtfs p.S131fs GBM 2 215609857 215609857 + Frame_Shift_Del DEL C C - TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 g.chr2:215609857delC c.1837delG c.(1837-1839)gcafs p.A613fs GBM 2 215646041 215646041 + Missense_Mutation SNP C C T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 g.chr2:215646041C>T c.557G>A c.(556-558)aGt>aAt p.S186N GBMLGG 2 215609857 215609857 + Frame_Shift_Del DEL C C - TCGA-12-0692-01A-01W-0348-08 TCGA-12-0692-10A-01W-0348-08 g.chr2:215609857delC c.1837delG c.(1837-1839)gcafs p.A613fs GBMLGG 2 215610535 215610535 + Missense_Mutation SNP C C T TCGA-DU-6396-01A-11D-1705-08 TCGA-DU-6396-10A-01D-1705-08 g.chr2:215610535C>T c.1721G>A c.(1720-1722)gGc>gAc p.G574D GBMLGG 2 215645746 215645746 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:215645746C>A c.852G>T c.(850-852)gaG>gaT p.E284D GBMLGG 2 215646041 215646041 + Missense_Mutation SNP C C T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 g.chr2:215646041C>T c.557G>A c.(556-558)aGt>aAt p.S186N GBMLGG 2 215646227 215646227 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:215646227T>G c.371A>C c.(370-372)aAa>aCa p.K124T HNSC 2 215593641 215593641 + Missense_Mutation SNP C C T TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 g.chr2:215593641C>T c.2093G>A c.(2092-2094)gGt>gAt p.G698D HNSC 2 215610516 215610516 + Silent SNP T T C TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr2:215610516T>C c.1740A>G c.(1738-1740)gaA>gaG p.E580E HNSC 2 215610519 215610519 + Silent SNP T T C TCGA-4P-AA8J-01A-11D-A391-08 TCGA-4P-AA8J-10A-01D-A394-08 g.chr2:215610519T>C c.1737A>G c.(1735-1737)tcA>tcG p.S579S HNSC 2 215617235 215617235 + Missense_Mutation SNP C C A TCGA-BA-A6DD-01A-12D-A31L-08 TCGA-BA-A6DD-10A-01D-A31J-08 g.chr2:215617235C>A c.1613G>T c.(1612-1614)aGt>aTt p.S538I HNSC 2 215632324 215632324 + Missense_Mutation SNP T T C TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr2:215632324T>C c.1450A>G c.(1450-1452)Aag>Gag p.K484E HNSC 2 215645436 215645436 + Missense_Mutation SNP T T C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 g.chr2:215645436T>C c.1162A>G c.(1162-1164)Att>Gtt p.I388V HNSC 2 215645669 215645669 + Missense_Mutation SNP G G C TCGA-CN-6013-01A-11D-1683-08 TCGA-CN-6013-10A-01D-1683-08 g.chr2:215645669G>C c.929C>G c.(928-930)tCt>tGt p.S310C HNSC 2 215645700 215645700 + Missense_Mutation SNP G G T TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 g.chr2:215645700G>T c.898C>A c.(898-900)Cct>Act p.P300T HNSC 2 215645897 215645897 + Missense_Mutation SNP T T A TCGA-CN-A642-01A-12D-A30E-08 TCGA-CN-A642-10A-01D-A30H-08 g.chr2:215645897T>A c.701A>T c.(700-702)gAa>gTa p.E234V HNSC 2 215646136 215646136 + Silent SNP G G A TCGA-HD-A4C1-01A-11D-A24D-08 TCGA-HD-A4C1-10A-02D-A24F-08 g.chr2:215646136G>A c.462C>T c.(460-462)gtC>gtT p.V154V HNSC 2 215646211 215646211 + Frame_Shift_Del DEL C C - TCGA-CN-A497-01A-11D-A24D-08 TCGA-CN-A497-10A-01D-A24F-08 g.chr2:215646211delC c.387delG c.(385-387)aggfs p.R129fs HNSC 2 215674167 215674167 + Frame_Shift_Del DEL G G - TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 g.chr2:215674167delG c.127delC c.(127-129)cgcfs p.R43fs KIPAN 2 215593624 215593624 + Missense_Mutation SNP T T G TCGA-AL-3468-01A-01D-1252-08 TCGA-AL-3468-10A-01D-1252-08 g.chr2:215593624T>G c.2110A>C c.(2110-2112)Agt>Cgt p.S704R KIPAN 2 215595187 215595187 + Missense_Mutation SNP T T G TCGA-BP-4766-01A-01D-1366-10 TCGA-BP-4766-11A-01D-1366-10 g.chr2:215595187T>G c.1949A>C c.(1948-1950)aAg>aCg p.K650T KIPAN 2 215632207 215632207 + Splice_Site SNP C C T TCGA-CZ-5462-01A-01D-1501-10 TCGA-CZ-5462-11A-01D-1501-10 g.chr2:215632207C>T c.1567G>A c.(1567-1569)Gtt>Att p.V523I KIPAN 2 215645503 215645523 + In_Frame_Del DEL TGGTGAAGAACATTCAGGCAA TGGTGAAGAACATTCAGGCAA - TCGA-DV-5576-01A-01D-1534-10 TCGA-DV-5576-10A-01D-1535-10 g.chr2:215645503_215645523delTGGTGAAGAACATTCAGGCAA c.1075_1095delTTGCCTGAATGTTCTTCACCA c.(1075-1095)ttgcctgaatgttcttcaccadel p.LPECSSP359del KIPAN 2 215657073 215657073 + Missense_Mutation SNP C C G TCGA-CJ-4904-01A-02D-1429-08 TCGA-CJ-4904-11A-01D-1429-08 g.chr2:215657073C>G c.312G>C c.(310-312)atG>atC p.M104I KIRC 2 215595187 215595187 + Missense_Mutation SNP T T G TCGA-BP-4766-01A-01D-1366-10 TCGA-BP-4766-11A-01D-1366-10 g.chr2:215595187T>G c.1949A>C c.(1948-1950)aAg>aCg p.K650T KIRC 2 215632207 215632207 + Splice_Site SNP C C T TCGA-CZ-5462-01A-01D-1501-10 TCGA-CZ-5462-11A-01D-1501-10 g.chr2:215632207C>T c.1567G>A c.(1567-1569)Gtt>Att p.V523I KIRC 2 215645503 215645523 + In_Frame_Del DEL TGGTGAAGAACATTCAGGCAA TGGTGAAGAACATTCAGGCAA - TCGA-DV-5576-01A-01D-1534-10 TCGA-DV-5576-10A-01D-1535-10 g.chr2:215645503_215645523delTGGTGAAGAACATTCAGGCAA c.1075_1095delTTGCCTGAATGTTCTTCACCA c.(1075-1095)ttgcctgaatgttcttcaccadel p.LPECSSP359del KIRC 2 215657073 215657073 + Missense_Mutation SNP C C G TCGA-CJ-4904-01A-02D-1429-08 TCGA-CJ-4904-11A-01D-1429-08 g.chr2:215657073C>G c.312G>C c.(310-312)atG>atC p.M104I KIRP 2 215593624 215593624 + Missense_Mutation SNP T T G TCGA-AL-3468-01A-01D-1252-08 TCGA-AL-3468-10A-01D-1252-08 g.chr2:215593624T>G c.2110A>C c.(2110-2112)Agt>Cgt p.S704R LGG 2 215610535 215610535 + Missense_Mutation SNP C C T TCGA-DU-6396-01A-11D-1705-08 TCGA-DU-6396-10A-01D-1705-08 g.chr2:215610535C>T c.1721G>A c.(1720-1722)gGc>gAc p.G574D LGG 2 215645746 215645746 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:215645746C>A c.852G>T c.(850-852)gaG>gaT p.E284D LGG 2 215646227 215646227 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:215646227T>G c.371A>C c.(370-372)aAa>aCa p.K124T LIHC 2 215617259 215617259 + Missense_Mutation SNP G G A TCGA-PD-A5DF-01A-11D-A27I-10 TCGA-PD-A5DF-10A-01D-A27I-10 g.chr2:215617259G>A c.1589C>T c.(1588-1590)cCt>cTt p.P530L LIHC 2 215674279 215674279 + Silent SNP C C A TCGA-ZS-A9CF-01A-11D-A382-10 TCGA-ZS-A9CF-10A-01D-A385-10 g.chr2:215674279C>A c.15G>T c.(13-15)cgG>cgT p.R5R LUAD 2 215595145 215595145 + Missense_Mutation SNP C C G TCGA-17-Z030-01A-01W-0746-08 TCGA-17-Z030-11A-01W-0746-08 g.chr2:215595145C>G c.1991G>C c.(1990-1992)aGa>aCa p.R664T LUAD 2 215595194 215595194 + Nonsense_Mutation SNP C C A TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr2:215595194C>A c.1942G>T c.(1942-1944)Gaa>Taa p.E648* LUAD 2 215632326 215632326 + Missense_Mutation SNP T T C TCGA-55-8616-01A-11D-2393-08 TCGA-55-8616-10A-01D-2393-08 g.chr2:215632326T>C c.1448A>G c.(1447-1449)cAt>cGt p.H483R LUAD 2 215632364 215632366 + In_Frame_Del DEL ATT ATT - TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr2:215632364_215632366delATT c.1408_1410delAAT c.(1408-1410)aatdel p.N470del LUAD 2 215645459 215645459 + Frame_Shift_Del DEL T T - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr2:215645459delT c.1139delA c.(1138-1140)aacfs p.N380fs LUAD 2 215645577 215645577 + Missense_Mutation SNP G G C TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr2:215645577G>C c.1021C>G c.(1021-1023)Ctg>Gtg p.L341V LUAD 2 215645722 215645722 + Silent SNP C C T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr2:215645722C>T c.876G>A c.(874-876)aaG>aaA p.K292K LUAD 2 215645838 215645838 + Missense_Mutation SNP T T A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr2:215645838T>A c.760A>T c.(760-762)Ata>Tta p.I254L LUAD 2 215645935 215645935 + Missense_Mutation SNP C C A TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr2:215645935C>A c.663G>T c.(661-663)gaG>gaT p.E221D LUAD 2 215646023 215646023 + Missense_Mutation SNP G G A TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chr2:215646023G>A c.575C>T c.(574-576)tCt>tTt p.S192F LUAD 2 215646105 215646105 + Missense_Mutation SNP T T A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr2:215646105T>A c.493A>T c.(493-495)Acc>Tcc p.T165S LUAD 2 215661801 215661801 + Missense_Mutation SNP C C T TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr2:215661801C>T c.199G>A c.(199-201)Gag>Aag p.E67K LUSC 2 215595156 215595156 + Missense_Mutation SNP G G C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr2:215595156G>C c.1980C>G c.(1978-1980)agC>agG p.S660R LUSC 2 215617174 215617174 + Silent SNP T T A TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr2:215617174T>A c.1674A>T c.(1672-1674)tcA>tcT p.S558S LUSC 2 215645361 215645361 + Missense_Mutation SNP C C T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chr2:215645361C>T c.1237G>A c.(1237-1239)Gca>Aca p.A413T LUSC 2 215645366 215645366 + Missense_Mutation SNP G G T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 g.chr2:215645366G>T c.1232C>A c.(1231-1233)cCc>cAc p.P411H LUSC 2 215645566 215645566 + Missense_Mutation SNP A A C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 g.chr2:215645566A>C c.1032T>G c.(1030-1032)agT>agG p.S344R PAAD 2 215610503 215610503 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:215610503G>T c.1753C>A c.(1753-1755)Ctc>Atc p.L585I PAAD 2 215645418 215645418 + Missense_Mutation SNP T T C TCGA-FB-AAQ6-01A-11D-A40W-08 TCGA-FB-AAQ6-11A-11D-A40W-08 g.chr2:215645418T>C c.1180A>G c.(1180-1182)Aca>Gca p.T394A PAAD 2 215646005 215646005 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:215646005G>A c.593C>T c.(592-594)gCt>gTt p.A198V PCPG 2 215593563 215593563 + Missense_Mutation SNP G G A TCGA-W2-A7HC-01A-11D-A35I-08 TCGA-W2-A7HC-10C-01D-A35G-08 g.chr2:215593563G>A c.2171C>T c.(2170-2172)gCg>gTg p.A724V PRAD 2 215617196 215617196 + Missense_Mutation SNP G G A TCGA-VP-AA1N-01A-31D-A41K-08 TCGA-VP-AA1N-10A-01D-A41N-08 g.chr2:215617196G>A c.1652C>T c.(1651-1653)tCa>tTa p.S551L PRAD 2 215645655 215645655 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:215645655G>A c.943C>T c.(943-945)Cca>Tca p.P315S PRAD 2 215645757 215645757 + Missense_Mutation SNP G G A TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 g.chr2:215645757G>A c.841C>T c.(841-843)Cca>Tca p.P281S PRAD 2 215645851 215645851 + Silent SNP G G A TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 g.chr2:215645851G>A c.747C>T c.(745-747)atC>atT p.I249I READ 2 215593697 215593697 + Missense_Mutation SNP C C A TCGA-AG-3601-01A-01W-0833-10 TCGA-AG-3601-10A-01W-0833-10 g.chr2:215593697C>A c.2037G>T c.(2035-2037)ttG>ttT p.L679F READ 2 215645739 215645739 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:215645739C>A c.859G>T c.(859-861)Gag>Tag p.E287* READ 2 215646178 215646178 + Missense_Mutation SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr2:215646178C>A c.420G>T c.(418-420)aaG>aaT p.K140N SKCM 2 215645294 215645294 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr2:215645294G>A c.1304C>T c.(1303-1305)gCt>gTt p.A435V SKCM 2 215674232 215674232 + Missense_Mutation SNP C C A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr2:215674232C>A c.62G>T c.(61-63)cGt>cTt p.R21L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 2 215609878 215609878 single base substitution G C 3_prime_UTR_variant BLCA-US 2 215609878 215609878 single base substitution G C downstream_gene_variant BLCA-US 2 215609878 215609878 single base substitution G C missense_variant H155D 463C>G BLCA-US 2 215609878 215609878 single base substitution G C missense_variant H462D 1384C>G BLCA-US 2 215609878 215609878 single base substitution G C missense_variant H606D 1816C>G BLCA-US 2 215645993 215645993 single base substitution G C 3_prime_UTR_variant BLCA-US 2 215645993 215645993 single base substitution G C exon_variant BLCA-US 2 215645993 215645993 single base substitution G C intron_variant BLCA-US 2 215645993 215645993 single base substitution G C missense_variant S202C 605C>G BLCA-US 2 215645993 215645993 single base substitution G C missense_variant S58C 173C>G BOCA-FR 2 215617560 215617560 single base substitution T C intron_variant BOCA-FR 2 215617560 215617560 single base substitution T C upstream_gene_variant BRCA-EU 2 215585567 215585570 deletion of <=200bp ATAA - downstream_gene_variant BRCA-EU 2 215588962 215588962 deletion of <=200bp G - downstream_gene_variant BRCA-EU 2 215589356 215589357 deletion of <=200bp TC - downstream_gene_variant BRCA-EU 2 215590891 215590891 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 215590891 215590891 single base substitution C G downstream_gene_variant BRCA-EU 2 215590995 215590995 insertion of <=200bp - G 3_prime_UTR_variant BRCA-EU 2 215590995 215590995 insertion of <=200bp - G downstream_gene_variant BRCA-EU 2 215591017 215591017 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 215591017 215591017 single base substitution C T downstream_gene_variant BRCA-EU 2 215592237 215592237 single base substitution T C 3_prime_UTR_variant BRCA-EU 2 215592237 215592237 single base substitution T C downstream_gene_variant BRCA-EU 2 215593321 215593321 single base substitution T A 3_prime_UTR_variant BRCA-EU 2 215593321 215593321 single base substitution T A downstream_gene_variant BRCA-EU 2 215593321 215593321 single base substitution T A exon_variant BRCA-EU 2 215594308 215594308 single base substitution C T downstream_gene_variant BRCA-EU 2 215594308 215594308 single base substitution C T intron_variant BRCA-EU 2 215594998 215594998 single base substitution T A downstream_gene_variant BRCA-EU 2 215594998 215594998 single base substitution T A exon_variant BRCA-EU 2 215594998 215594998 single base substitution T A intron_variant BRCA-EU 2 215594999 215594999 single base substitution C T downstream_gene_variant BRCA-EU 2 215594999 215594999 single base substitution C T exon_variant BRCA-EU 2 215594999 215594999 single base substitution C T intron_variant BRCA-EU 2 215595871 215595872 deletion of <=200bp AG - intron_variant BRCA-EU 2 215595871 215595872 deletion of <=200bp AG - upstream_gene_variant BRCA-EU 2 215597663 215597663 deletion of <=200bp A - intron_variant BRCA-EU 2 215597663 215597663 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 215597939 215597939 single base substitution C A intron_variant BRCA-EU 2 215597939 215597939 single base substitution C A upstream_gene_variant BRCA-EU 2 215598676 215598676 single base substitution C T intron_variant BRCA-EU 2 215598676 215598676 single base substitution C T upstream_gene_variant BRCA-EU 2 215599707 215599707 single base substitution G C intron_variant BRCA-EU 2 215599707 215599707 single base substitution G C upstream_gene_variant BRCA-EU 2 215602264 215602264 single base substitution C A intron_variant BRCA-EU 2 215602469 215602469 single base substitution A G intron_variant BRCA-EU 2 215602899 215602899 single base substitution A C intron_variant BRCA-EU 2 215603237 215603237 single base substitution C G intron_variant BRCA-EU 2 215604014 215604014 single base substitution G A intron_variant BRCA-EU 2 215604322 215604322 single base substitution G A intron_variant BRCA-EU 2 215604928 215604928 single base substitution G C intron_variant BRCA-EU 2 215605238 215605238 deletion of <=200bp T - intron_variant BRCA-EU 2 215605545 215605545 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 215605545 215605545 deletion of <=200bp T - intron_variant BRCA-EU 2 215608060 215608060 single base substitution T A downstream_gene_variant BRCA-EU 2 215608060 215608060 single base substitution T A intron_variant BRCA-EU 2 215608354 215608354 single base substitution C A downstream_gene_variant BRCA-EU 2 215608354 215608354 single base substitution C A intron_variant BRCA-EU 2 215609365 215609365 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 215609365 215609365 insertion of <=200bp - T intron_variant BRCA-EU 2 215610576 215610576 single base substitution C T missense_variant M109I 327G>A BRCA-EU 2 215610576 215610576 single base substitution C T missense_variant M416I 1248G>A BRCA-EU 2 215610576 215610576 single base substitution C T missense_variant M560I 1680G>A BRCA-EU 2 215610576 215610576 single base substitution C T splice_region_variant BRCA-EU 2 215611057 215611057 single base substitution C G intron_variant BRCA-EU 2 215611227 215611227 single base substitution G T intron_variant BRCA-EU 2 215611988 215611988 single base substitution T A intron_variant BRCA-EU 2 215613163 215613163 single base substitution C G intron_variant BRCA-EU 2 215613226 215613226 single base substitution C T intron_variant BRCA-EU 2 215614208 215614208 single base substitution C G intron_variant BRCA-EU 2 215616033 215616033 single base substitution C T intron_variant BRCA-EU 2 215617482 215617482 insertion of <=200bp - T intron_variant BRCA-EU 2 215617482 215617482 insertion of <=200bp - T upstream_gene_variant BRCA-EU 2 215618166 215618166 insertion of <=200bp - T intron_variant BRCA-EU 2 215618166 215618166 insertion of <=200bp - T upstream_gene_variant BRCA-EU 2 215620526 215620526 single base substitution G A intron_variant BRCA-EU 2 215620526 215620526 single base substitution G A upstream_gene_variant BRCA-EU 2 215620835 215620835 single base substitution A G intron_variant BRCA-EU 2 215620835 215620835 single base substitution A G upstream_gene_variant BRCA-EU 2 215624024 215624024 deletion of <=200bp A - intron_variant BRCA-EU 2 215624493 215624493 insertion of <=200bp - A intron_variant BRCA-EU 2 215626315 215626315 single base substitution T C intron_variant BRCA-EU 2 215628744 215628744 single base substitution A G intron_variant BRCA-EU 2 215629916 215629916 single base substitution C A intron_variant BRCA-EU 2 215630750 215630750 single base substitution C A intron_variant BRCA-EU 2 215630944 215630944 single base substitution C T intron_variant BRCA-EU 2 215631153 215631153 single base substitution T C intron_variant BRCA-EU 2 215631541 215631541 deletion of <=200bp C - intron_variant BRCA-EU 2 215631865 215631865 deletion of <=200bp A - intron_variant BRCA-EU 2 215633703 215633703 single base substitution G C intron_variant BRCA-EU 2 215634479 215634479 single base substitution A C intron_variant BRCA-EU 2 215637986 215637986 single base substitution C A intron_variant BRCA-EU 2 215637989 215637989 single base substitution T A intron_variant BRCA-EU 2 215638766 215638766 single base substitution T A intron_variant BRCA-EU 2 215639780 215639780 single base substitution C A intron_variant BRCA-EU 2 215640497 215640497 single base substitution G T intron_variant BRCA-EU 2 215640671 215640671 single base substitution G A downstream_gene_variant BRCA-EU 2 215640671 215640671 single base substitution G A intron_variant BRCA-EU 2 215641102 215641102 single base substitution G C downstream_gene_variant BRCA-EU 2 215641102 215641102 single base substitution G C intron_variant BRCA-EU 2 215641462 215641462 single base substitution C T downstream_gene_variant BRCA-EU 2 215641462 215641462 single base substitution C T intron_variant BRCA-EU 2 215641511 215641511 deletion of <=200bp G - downstream_gene_variant BRCA-EU 2 215641511 215641511 deletion of <=200bp G - intron_variant BRCA-EU 2 215642793 215642793 single base substitution G A downstream_gene_variant BRCA-EU 2 215642793 215642793 single base substitution G A intron_variant BRCA-EU 2 215644933 215644933 single base substitution C G downstream_gene_variant BRCA-EU 2 215644933 215644933 single base substitution C G intron_variant BRCA-EU 2 215645629 215645629 single base substitution G A 3_prime_UTR_variant BRCA-EU 2 215645629 215645629 single base substitution G A exon_variant BRCA-EU 2 215645629 215645629 single base substitution G A intron_variant BRCA-EU 2 215645629 215645629 single base substitution G A synonymous_variant G179G 537C>T BRCA-EU 2 215645629 215645629 single base substitution G A synonymous_variant G323G 969C>T BRCA-EU 2 215645790 215645790 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 215645790 215645790 single base substitution C G exon_variant BRCA-EU 2 215645790 215645790 single base substitution C G intron_variant BRCA-EU 2 215645790 215645790 single base substitution C G missense_variant E126Q 376G>C BRCA-EU 2 215645790 215645790 single base substitution C G missense_variant E270Q 808G>C BRCA-EU 2 215647413 215647413 single base substitution C G intron_variant BRCA-EU 2 215648120 215648120 single base substitution C T intron_variant BRCA-EU 2 215648940 215648940 single base substitution C T intron_variant BRCA-EU 2 215650095 215650095 deletion of <=200bp A - intron_variant BRCA-EU 2 215650426 215650426 single base substitution A C intron_variant BRCA-EU 2 215651390 215651390 single base substitution T C intron_variant BRCA-EU 2 215652856 215652856 single base substitution C G intron_variant BRCA-EU 2 215652936 215652936 single base substitution G A intron_variant BRCA-EU 2 215653305 215653305 single base substitution G C intron_variant BRCA-EU 2 215653924 215653924 single base substitution T C intron_variant BRCA-EU 2 215654473 215654473 single base substitution G C intron_variant BRCA-EU 2 215655065 215655065 single base substitution C T intron_variant BRCA-EU 2 215655646 215655646 single base substitution G A intron_variant BRCA-EU 2 215655657 215655657 single base substitution G C intron_variant BRCA-EU 2 215657132 215657132 single base substitution C T downstream_gene_variant BRCA-EU 2 215657132 215657132 single base substitution C T intron_variant BRCA-EU 2 215657132 215657132 single base substitution C T missense_variant V85M 253G>A BRCA-EU 2 215657782 215657782 deletion of <=200bp C - downstream_gene_variant BRCA-EU 2 215657782 215657782 deletion of <=200bp C - intron_variant BRCA-EU 2 215657892 215657892 single base substitution G C downstream_gene_variant BRCA-EU 2 215657892 215657892 single base substitution G C intron_variant BRCA-EU 2 215658080 215658080 single base substitution A C downstream_gene_variant BRCA-EU 2 215658080 215658080 single base substitution A C intron_variant BRCA-EU 2 215658999 215658999 single base substitution G A downstream_gene_variant BRCA-EU 2 215658999 215658999 single base substitution G A intron_variant BRCA-EU 2 215659190 215659190 single base substitution G A downstream_gene_variant BRCA-EU 2 215659190 215659190 single base substitution G A intron_variant BRCA-EU 2 215659654 215659654 single base substitution C T downstream_gene_variant BRCA-EU 2 215659654 215659654 single base substitution C T intron_variant BRCA-EU 2 215659659 215659659 single base substitution C G downstream_gene_variant BRCA-EU 2 215659659 215659659 single base substitution C G intron_variant BRCA-EU 2 215660957 215660957 single base substitution C T downstream_gene_variant BRCA-EU 2 215660957 215660957 single base substitution C T intron_variant BRCA-EU 2 215664434 215664434 single base substitution G A intron_variant BRCA-EU 2 215670569 215670569 single base substitution G T intron_variant BRCA-EU 2 215672011 215672011 single base substitution C G intron_variant BRCA-EU 2 215674221 215674221 single base substitution C A 5_prime_UTR_variant BRCA-EU 2 215674221 215674221 single base substitution C A exon_variant BRCA-EU 2 215674221 215674221 single base substitution C A missense_variant A25S 73G>T BRCA-EU 2 215675476 215675476 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 215676116 215676116 single base substitution C A upstream_gene_variant BRCA-EU 2 215679422 215679422 single base substitution C A upstream_gene_variant BRCA-FR 2 215589635 215589635 single base substitution C T downstream_gene_variant BRCA-FR 2 215590891 215590891 single base substitution C G 3_prime_UTR_variant BRCA-FR 2 215590891 215590891 single base substitution C G downstream_gene_variant BRCA-FR 2 215595615 215595615 single base substitution C A intron_variant BRCA-FR 2 215595615 215595615 single base substitution C A upstream_gene_variant BRCA-FR 2 215610841 215610841 single base substitution T G intron_variant BRCA-FR 2 215611227 215611227 single base substitution G T intron_variant BRCA-FR 2 215613317 215613317 single base substitution G A intron_variant BRCA-FR 2 215640497 215640497 single base substitution G T intron_variant BRCA-FR 2 215644933 215644933 single base substitution C G downstream_gene_variant BRCA-FR 2 215644933 215644933 single base substitution C G intron_variant BRCA-FR 2 215648940 215648940 single base substitution C T intron_variant BRCA-FR 2 215659190 215659190 single base substitution G A downstream_gene_variant BRCA-FR 2 215659190 215659190 single base substitution G A intron_variant BRCA-FR 2 215669695 215669695 single base substitution A G intron_variant BRCA-KR 2 215661777 215661777 single base substitution T G exon_variant BRCA-KR 2 215661777 215661777 single base substitution T G intron_variant BRCA-KR 2 215661777 215661777 single base substitution T G splice_region_variant BRCA-UK 2 215594998 215594998 single base substitution T A downstream_gene_variant BRCA-UK 2 215594998 215594998 single base substitution T A exon_variant BRCA-UK 2 215594998 215594998 single base substitution T A intron_variant BRCA-UK 2 215594999 215594999 single base substitution C T downstream_gene_variant BRCA-UK 2 215594999 215594999 single base substitution C T exon_variant BRCA-UK 2 215594999 215594999 single base substitution C T intron_variant BRCA-UK 2 215629916 215629916 single base substitution C A intron_variant BRCA-UK 2 215637986 215637986 single base substitution C A intron_variant BRCA-UK 2 215637989 215637989 single base substitution T A intron_variant BRCA-UK 2 215646234 215646234 single base substitution C T intron_variant BRCA-UK 2 215646234 215646234 single base substitution C T splice_acceptor_variant BRCA-UK 2 215657132 215657132 single base substitution C T downstream_gene_variant BRCA-UK 2 215657132 215657132 single base substitution C T intron_variant BRCA-UK 2 215657132 215657132 single base substitution C T missense_variant V85M 253G>A BRCA-UK 2 215659659 215659659 single base substitution C G downstream_gene_variant BRCA-UK 2 215659659 215659659 single base substitution C G intron_variant BRCA-US 2 215610501 215610501 single base substitution G A 3_prime_UTR_variant BRCA-US 2 215610501 215610501 single base substitution G A exon_variant BRCA-US 2 215610501 215610501 single base substitution G A synonymous_variant L134L 402C>T BRCA-US 2 215610501 215610501 single base substitution G A synonymous_variant L441L 1323C>T BRCA-US 2 215610501 215610501 single base substitution G A synonymous_variant L585L 1755C>T BRCA-US 2 215657118 215657118 single base substitution C T downstream_gene_variant BRCA-US 2 215657118 215657118 single base substitution C T intron_variant BRCA-US 2 215657118 215657118 single base substitution C T synonymous_variant P89P 267G>A BTCA-JP 2 215593277 215593277 single base substitution G T 3_prime_UTR_variant BTCA-JP 2 215593277 215593277 single base substitution G T downstream_gene_variant BTCA-JP 2 215593277 215593277 single base substitution G T exon_variant BTCA-JP 2 215645379 215645379 single base substitution C T 3_prime_UTR_variant BTCA-JP 2 215645379 215645379 single base substitution C T downstream_gene_variant BTCA-JP 2 215645379 215645379 single base substitution C T intron_variant BTCA-JP 2 215645379 215645379 single base substitution C T missense_variant V263M 787G>A BTCA-JP 2 215645379 215645379 single base substitution C T missense_variant V407M 1219G>A BTCA-JP 2 215645503 215645523 deletion of <=200bp TGGTGAAGAACATTCAGGCAA - 3_prime_UTR_variant BTCA-JP 2 215645503 215645523 deletion of <=200bp TGGTGAAGAACATTCAGGCAA - downstream_gene_variant BTCA-JP 2 215645503 215645523 deletion of <=200bp TGGTGAAGAACATTCAGGCAA - inframe_deletion LPECSSP215 BTCA-JP 2 215645503 215645523 deletion of <=200bp TGGTGAAGAACATTCAGGCAA - inframe_deletion LPECSSP359 BTCA-JP 2 215645503 215645523 deletion of <=200bp TGGTGAAGAACATTCAGGCAA - intron_variant BTCA-JP 2 215646085 215646085 deletion of <=200bp T - 3_prime_UTR_variant BTCA-JP 2 215646085 215646085 deletion of <=200bp T - exon_variant BTCA-JP 2 215646085 215646085 deletion of <=200bp T - frameshift_variant K171 BTCA-JP 2 215646085 215646085 deletion of <=200bp T - frameshift_variant K27 BTCA-JP 2 215646085 215646085 deletion of <=200bp T - intron_variant BTCA-JP 2 215674318 215674318 single base substitution C T 5_prime_UTR_variant BTCA-JP 2 215674318 215674318 single base substitution C T exon_variant CESC-US 2 215645790 215645790 single base substitution C T 3_prime_UTR_variant CESC-US 2 215645790 215645790 single base substitution C T exon_variant CESC-US 2 215645790 215645790 single base substitution C T intron_variant CESC-US 2 215645790 215645790 single base substitution C T missense_variant E126K 376G>A CESC-US 2 215645790 215645790 single base substitution C T missense_variant E270K 808G>A CESC-US 2 215645796 215645796 single base substitution C T 3_prime_UTR_variant CESC-US 2 215645796 215645796 single base substitution C T exon_variant CESC-US 2 215645796 215645796 single base substitution C T intron_variant CESC-US 2 215645796 215645796 single base substitution C T missense_variant E124K 370G>A CESC-US 2 215645796 215645796 single base substitution C T missense_variant E268K 802G>A CESC-US 2 215645934 215645934 single base substitution C A 3_prime_UTR_variant CESC-US 2 215645934 215645934 single base substitution C A exon_variant CESC-US 2 215645934 215645934 single base substitution C A intron_variant CESC-US 2 215645934 215645934 single base substitution C A missense_variant A222S 664G>T CESC-US 2 215645934 215645934 single base substitution C A missense_variant A78S 232G>T CESC-US 2 215645967 215645967 insertion of <=200bp - C 3_prime_UTR_variant CESC-US 2 215645967 215645967 insertion of <=200bp - C exon_variant CESC-US 2 215645967 215645967 insertion of <=200bp - C frameshift_variant L211C? CESC-US 2 215645967 215645967 insertion of <=200bp - C frameshift_variant L67C? CESC-US 2 215645967 215645967 insertion of <=200bp - C intron_variant CESC-US 2 215646072 215646072 single base substitution G A 3_prime_UTR_variant CESC-US 2 215646072 215646072 single base substitution G A exon_variant CESC-US 2 215646072 215646072 single base substitution G A intron_variant CESC-US 2 215646072 215646072 single base substitution G A stop_gained Q176* 526C>T CESC-US 2 215646072 215646072 single base substitution G A stop_gained Q32* 94C>T CLLE-ES 2 215633128 215633128 single base substitution A G intron_variant CLLE-ES 2 215644327 215644327 single base substitution T A downstream_gene_variant CLLE-ES 2 215644327 215644327 single base substitution T A intron_variant CLLE-ES 2 215646114 215646114 single base substitution A C 3_prime_UTR_variant CLLE-ES 2 215646114 215646114 single base substitution A C exon_variant CLLE-ES 2 215646114 215646114 single base substitution A C intron_variant CLLE-ES 2 215646114 215646114 single base substitution A C missense_variant S162A 484T>G CLLE-ES 2 215646114 215646114 single base substitution A C missense_variant S18A 52T>G CLLE-ES 2 215655710 215655710 single base substitution T C intron_variant CLLE-ES 2 215655952 215655952 single base substitution G C intron_variant CLLE-ES 2 215657183 215657183 single base substitution A T downstream_gene_variant CLLE-ES 2 215657183 215657183 single base substitution A T intron_variant CLLE-ES 2 215669119 215669119 single base substitution C A intron_variant CLLE-ES 2 215673694 215673694 single base substitution C G intron_variant CLLE-ES 2 215673905 215673905 single base substitution C G intron_variant COAD-US 2 215593481 215593481 single base substitution C T 3_prime_UTR_variant COAD-US 2 215593481 215593481 single base substitution C T downstream_gene_variant COAD-US 2 215593481 215593481 single base substitution C T exon_variant COAD-US 2 215593481 215593481 single base substitution C T synonymous_variant R122R 366G>A COAD-US 2 215593481 215593481 single base substitution C T synonymous_variant R751R 2253G>A COAD-US 2 215632255 215632255 single base substitution C T 3_prime_UTR_variant COAD-US 2 215632255 215632255 single base substitution C T intron_variant COAD-US 2 215632255 215632255 single base substitution C T missense_variant V363M 1087G>A COAD-US 2 215632255 215632255 single base substitution C T missense_variant V507M 1519G>A COAD-US 2 215645464 215645464 single base substitution C G 3_prime_UTR_variant COAD-US 2 215645464 215645464 single base substitution C G downstream_gene_variant COAD-US 2 215645464 215645464 single base substitution C G intron_variant COAD-US 2 215645464 215645464 single base substitution C G missense_variant R234S 702G>C COAD-US 2 215645464 215645464 single base substitution C G missense_variant R378S 1134G>C COAD-US 2 215645545 215645545 single base substitution C G 3_prime_UTR_variant COAD-US 2 215645545 215645545 single base substitution C G downstream_gene_variant COAD-US 2 215645545 215645545 single base substitution C G intron_variant COAD-US 2 215645545 215645545 single base substitution C G synonymous_variant T207T 621G>C COAD-US 2 215645545 215645545 single base substitution C G synonymous_variant T351T 1053G>C COAD-US 2 215645684 215645684 single base substitution T G 3_prime_UTR_variant COAD-US 2 215645684 215645684 single base substitution T G exon_variant COAD-US 2 215645684 215645684 single base substitution T G intron_variant COAD-US 2 215645684 215645684 single base substitution T G missense_variant K161T 482A>C COAD-US 2 215645684 215645684 single base substitution T G missense_variant K305T 914A>C COAD-US 2 215645698 215645698 single base substitution A G 3_prime_UTR_variant COAD-US 2 215645698 215645698 single base substitution A G exon_variant COAD-US 2 215645698 215645698 single base substitution A G intron_variant COAD-US 2 215645698 215645698 single base substitution A G synonymous_variant P156P 468T>C COAD-US 2 215645698 215645698 single base substitution A G synonymous_variant P300P 900T>C COAD-US 2 215645975 215645975 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 2 215645975 215645975 deletion of <=200bp T - exon_variant COAD-US 2 215645975 215645975 deletion of <=200bp T - frameshift_variant K208 COAD-US 2 215645975 215645975 deletion of <=200bp T - frameshift_variant K64 COAD-US 2 215645975 215645975 deletion of <=200bp T - intron_variant COAD-US 2 215674224 215674224 single base substitution G A 5_prime_UTR_variant COAD-US 2 215674224 215674224 single base substitution G A exon_variant COAD-US 2 215674224 215674224 single base substitution G A missense_variant P24S 70C>T COCA-CN 2 215593362 215593362 single base substitution G A 3_prime_UTR_variant COCA-CN 2 215593362 215593362 single base substitution G A downstream_gene_variant COCA-CN 2 215593362 215593362 single base substitution G A exon_variant COCA-CN 2 215593563 215593563 single base substitution G A 3_prime_UTR_variant COCA-CN 2 215593563 215593563 single base substitution G A downstream_gene_variant COCA-CN 2 215593563 215593563 single base substitution G A exon_variant COCA-CN 2 215593563 215593563 single base substitution G A missense_variant A724V 2171C>T COCA-CN 2 215593563 215593563 single base substitution G A missense_variant A95V 284C>T COCA-CN 2 215595651 215595651 single base substitution G C 5_prime_UTR_variant COCA-CN 2 215595651 215595651 single base substitution G C intron_variant COCA-CN 2 215595651 215595651 single base substitution G C upstream_gene_variant COCA-CN 2 215610503 215610503 single base substitution G A 3_prime_UTR_variant COCA-CN 2 215610503 215610503 single base substitution G A exon_variant COCA-CN 2 215610503 215610503 single base substitution G A missense_variant L134F 400C>T COCA-CN 2 215610503 215610503 single base substitution G A missense_variant L441F 1321C>T COCA-CN 2 215610503 215610503 single base substitution G A missense_variant L585F 1753C>T COCA-CN 2 215662057 215662057 single base substitution C A intron_variant EOPC-DE 2 215607390 215607390 single base substitution G A downstream_gene_variant EOPC-DE 2 215607390 215607390 single base substitution G A intron_variant ESAD-UK 2 215585734 215585734 single base substitution G C downstream_gene_variant ESAD-UK 2 215586418 215586418 single base substitution C G downstream_gene_variant ESAD-UK 2 215586713 215586713 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 215590078 215590078 single base substitution T A downstream_gene_variant ESAD-UK 2 215590445 215590446 deletion of <=200bp AT - 3_prime_UTR_variant ESAD-UK 2 215590445 215590446 deletion of <=200bp AT - downstream_gene_variant ESAD-UK 2 215591577 215591577 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 215591577 215591577 single base substitution C T downstream_gene_variant ESAD-UK 2 215594113 215594113 single base substitution A C downstream_gene_variant ESAD-UK 2 215594113 215594113 single base substitution A C intron_variant ESAD-UK 2 215596305 215596305 deletion of <=200bp T - intron_variant ESAD-UK 2 215596305 215596305 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 215596313 215596313 single base substitution C T intron_variant ESAD-UK 2 215596313 215596313 single base substitution C T upstream_gene_variant ESAD-UK 2 215597412 215597412 single base substitution C T intron_variant ESAD-UK 2 215597412 215597412 single base substitution C T upstream_gene_variant ESAD-UK 2 215597663 215597663 deletion of <=200bp A - intron_variant ESAD-UK 2 215597663 215597663 deletion of <=200bp A - upstream_gene_variant ESAD-UK 2 215598202 215598202 single base substitution T C intron_variant ESAD-UK 2 215598202 215598202 single base substitution T C upstream_gene_variant ESAD-UK 2 215601367 215601367 single base substitution A G intron_variant ESAD-UK 2 215601437 215601437 deletion of <=200bp A - intron_variant ESAD-UK 2 215602208 215602208 single base substitution C G intron_variant ESAD-UK 2 215602226 215602226 single base substitution A G intron_variant ESAD-UK 2 215602391 215602391 single base substitution C G intron_variant ESAD-UK 2 215602579 215602579 single base substitution A G intron_variant ESAD-UK 2 215603969 215603969 single base substitution A T intron_variant ESAD-UK 2 215606502 215606502 single base substitution C T downstream_gene_variant ESAD-UK 2 215606502 215606502 single base substitution C T intron_variant ESAD-UK 2 215607390 215607390 single base substitution G A downstream_gene_variant ESAD-UK 2 215607390 215607390 single base substitution G A intron_variant ESAD-UK 2 215608415 215608415 single base substitution C T downstream_gene_variant ESAD-UK 2 215608415 215608415 single base substitution C T intron_variant ESAD-UK 2 215608722 215608722 single base substitution A G downstream_gene_variant ESAD-UK 2 215608722 215608722 single base substitution A G intron_variant ESAD-UK 2 215610881 215610881 single base substitution C T intron_variant ESAD-UK 2 215613042 215613042 single base substitution T A intron_variant ESAD-UK 2 215613170 215613170 single base substitution A G intron_variant ESAD-UK 2 215614789 215614789 single base substitution T A intron_variant ESAD-UK 2 215618166 215618166 deletion of <=200bp T - intron_variant ESAD-UK 2 215618166 215618166 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 215618681 215618681 single base substitution G A intron_variant ESAD-UK 2 215618681 215618681 single base substitution G A upstream_gene_variant ESAD-UK 2 215618788 215618788 single base substitution G T intron_variant ESAD-UK 2 215618788 215618788 single base substitution G T upstream_gene_variant ESAD-UK 2 215618809 215618809 single base substitution T G intron_variant ESAD-UK 2 215618809 215618809 single base substitution T G upstream_gene_variant ESAD-UK 2 215618993 215618993 single base substitution A G intron_variant ESAD-UK 2 215618993 215618993 single base substitution A G upstream_gene_variant ESAD-UK 2 215620666 215620666 single base substitution G C intron_variant ESAD-UK 2 215620666 215620666 single base substitution G C upstream_gene_variant ESAD-UK 2 215621544 215621544 single base substitution C T intron_variant ESAD-UK 2 215621544 215621544 single base substitution C T upstream_gene_variant ESAD-UK 2 215621550 215621550 single base substitution G A intron_variant ESAD-UK 2 215621550 215621550 single base substitution G A upstream_gene_variant ESAD-UK 2 215624261 215624261 deletion of <=200bp T - intron_variant ESAD-UK 2 215624911 215624911 single base substitution C A intron_variant ESAD-UK 2 215625276 215625276 single base substitution C G intron_variant ESAD-UK 2 215626677 215626677 single base substitution A G intron_variant ESAD-UK 2 215628695 215628695 single base substitution C G intron_variant ESAD-UK 2 215628882 215628882 single base substitution C T intron_variant ESAD-UK 2 215629076 215629076 single base substitution C T intron_variant ESAD-UK 2 215630733 215630733 deletion of <=200bp T - intron_variant ESAD-UK 2 215631540 215631540 single base substitution T C intron_variant ESAD-UK 2 215632229 215632229 single base substitution G T 3_prime_UTR_variant ESAD-UK 2 215632229 215632229 single base substitution G T intron_variant ESAD-UK 2 215632229 215632229 single base substitution G T synonymous_variant S371S 1113C>A ESAD-UK 2 215632229 215632229 single base substitution G T synonymous_variant S515S 1545C>A ESAD-UK 2 215633343 215633343 single base substitution T C intron_variant ESAD-UK 2 215633363 215633363 single base substitution C G intron_variant ESAD-UK 2 215636384 215636384 single base substitution G A intron_variant ESAD-UK 2 215637216 215637216 single base substitution C T intron_variant ESAD-UK 2 215639195 215639195 single base substitution C A intron_variant ESAD-UK 2 215639391 215639391 single base substitution G T intron_variant ESAD-UK 2 215640549 215640549 single base substitution G A intron_variant ESAD-UK 2 215642255 215642255 single base substitution C T downstream_gene_variant ESAD-UK 2 215642255 215642255 single base substitution C T intron_variant ESAD-UK 2 215642487 215642487 single base substitution T C downstream_gene_variant ESAD-UK 2 215642487 215642487 single base substitution T C intron_variant ESAD-UK 2 215643718 215643718 single base substitution A C downstream_gene_variant ESAD-UK 2 215643718 215643718 single base substitution A C intron_variant ESAD-UK 2 215643908 215643908 single base substitution G A downstream_gene_variant ESAD-UK 2 215643908 215643908 single base substitution G A intron_variant ESAD-UK 2 215644134 215644134 single base substitution C T downstream_gene_variant ESAD-UK 2 215644134 215644134 single base substitution C T intron_variant ESAD-UK 2 215648808 215648808 single base substitution G A intron_variant ESAD-UK 2 215649008 215649008 single base substitution C G intron_variant ESAD-UK 2 215649076 215649076 single base substitution C T intron_variant ESAD-UK 2 215650494 215650494 single base substitution G A intron_variant ESAD-UK 2 215652115 215652115 single base substitution C G intron_variant ESAD-UK 2 215652932 215652932 single base substitution C T intron_variant ESAD-UK 2 215653794 215653794 single base substitution G A intron_variant ESAD-UK 2 215657374 215657374 single base substitution A T downstream_gene_variant ESAD-UK 2 215657374 215657374 single base substitution A T intron_variant ESAD-UK 2 215657793 215657793 single base substitution G A downstream_gene_variant ESAD-UK 2 215657793 215657793 single base substitution G A intron_variant ESAD-UK 2 215658542 215658542 single base substitution A C downstream_gene_variant ESAD-UK 2 215658542 215658542 single base substitution A C intron_variant ESAD-UK 2 215661682 215661682 single base substitution A G exon_variant ESAD-UK 2 215661682 215661682 single base substitution A G intron_variant ESAD-UK 2 215663275 215663275 single base substitution C T intron_variant ESAD-UK 2 215668837 215668837 single base substitution C T intron_variant ESAD-UK 2 215672247 215672247 single base substitution C A intron_variant ESAD-UK 2 215672793 215672793 single base substitution G C intron_variant ESAD-UK 2 215672827 215672827 single base substitution C T intron_variant ESAD-UK 2 215672978 215672978 insertion of <=200bp - A intron_variant ESAD-UK 2 215674872 215674872 single base substitution C T upstream_gene_variant ESAD-UK 2 215676999 215676999 single base substitution G A upstream_gene_variant ESAD-UK 2 215677000 215677000 single base substitution G T upstream_gene_variant ESAD-UK 2 215678099 215678099 insertion of <=200bp - G upstream_gene_variant ESCA-CN 2 215632297 215632297 single base substitution G C 3_prime_UTR_variant ESCA-CN 2 215632297 215632297 single base substitution G C intron_variant ESCA-CN 2 215632297 215632297 single base substitution G C missense_variant Q349E 1045C>G ESCA-CN 2 215632297 215632297 single base substitution G C missense_variant Q493E 1477C>G GBM-US 2 215609857 215609857 deletion of <=200bp C - 3_prime_UTR_variant GBM-US 2 215609857 215609857 deletion of <=200bp C - downstream_gene_variant GBM-US 2 215609857 215609857 deletion of <=200bp C - frameshift_variant A162 GBM-US 2 215609857 215609857 deletion of <=200bp C - frameshift_variant A469 GBM-US 2 215609857 215609857 deletion of <=200bp C - frameshift_variant A613 GBM-US 2 215646041 215646041 single base substitution C T 3_prime_UTR_variant GBM-US 2 215646041 215646041 single base substitution C T exon_variant GBM-US 2 215646041 215646041 single base substitution C T intron_variant GBM-US 2 215646041 215646041 single base substitution C T missense_variant S186N 557G>A GBM-US 2 215646041 215646041 single base substitution C T missense_variant S42N 125G>A KIRC-US 2 215595187 215595187 single base substitution T G 3_prime_UTR_variant KIRC-US 2 215595187 215595187 single base substitution T G exon_variant KIRC-US 2 215595187 215595187 single base substitution T G missense_variant K199T 596A>C KIRC-US 2 215595187 215595187 single base substitution T G missense_variant K21T 62A>C KIRC-US 2 215595187 215595187 single base substitution T G missense_variant K506T 1517A>C KIRC-US 2 215595187 215595187 single base substitution T G missense_variant K650T 1949A>C KIRC-US 2 215632207 215632207 single base substitution C T intron_variant KIRC-US 2 215632207 215632207 single base substitution C T missense_variant V379I 1135G>A KIRC-US 2 215632207 215632207 single base substitution C T missense_variant V523I 1567G>A KIRC-US 2 215632207 215632207 single base substitution C T splice_region_variant KIRC-US 2 215645503 215645523 deletion of <=200bp TGGTGAAGAACATTCAGGCAA - 3_prime_UTR_variant KIRC-US 2 215645503 215645523 deletion of <=200bp TGGTGAAGAACATTCAGGCAA - downstream_gene_variant KIRC-US 2 215645503 215645523 deletion of <=200bp TGGTGAAGAACATTCAGGCAA - inframe_deletion LPECSSP215 KIRC-US 2 215645503 215645523 deletion of <=200bp TGGTGAAGAACATTCAGGCAA - inframe_deletion LPECSSP359 KIRC-US 2 215645503 215645523 deletion of <=200bp TGGTGAAGAACATTCAGGCAA - intron_variant KIRC-US 2 215657073 215657073 single base substitution C G downstream_gene_variant KIRC-US 2 215657073 215657073 single base substitution C G intron_variant KIRC-US 2 215657073 215657073 single base substitution C G missense_variant M104I 312G>C LAML-KR 2 215595445 215595445 single base substitution C A intron_variant LAML-KR 2 215595445 215595445 single base substitution C A upstream_gene_variant LAML-KR 2 215632155 215632155 single base substitution T C intron_variant LAML-KR 2 215632192 215632192 single base substitution G A intron_variant LAML-KR 2 215677695 215677695 single base substitution A C upstream_gene_variant LGG-US 2 215610535 215610535 single base substitution C T 3_prime_UTR_variant LGG-US 2 215610535 215610535 single base substitution C T exon_variant LGG-US 2 215610535 215610535 single base substitution C T missense_variant G123D 368G>A LGG-US 2 215610535 215610535 single base substitution C T missense_variant G430D 1289G>A LGG-US 2 215610535 215610535 single base substitution C T missense_variant G574D 1721G>A LICA-FR 2 215592896 215592896 single base substitution A G 3_prime_UTR_variant LICA-FR 2 215592896 215592896 single base substitution A G downstream_gene_variant LICA-FR 2 215595141 215595141 single base substitution T A 3_prime_UTR_variant LICA-FR 2 215595141 215595141 single base substitution T A exon_variant LICA-FR 2 215595141 215595141 single base substitution T A missense_variant E214D 642A>T LICA-FR 2 215595141 215595141 single base substitution T A missense_variant E36D 108A>T LICA-FR 2 215595141 215595141 single base substitution T A missense_variant E521D 1563A>T LICA-FR 2 215595141 215595141 single base substitution T A missense_variant E665D 1995A>T LICA-FR 2 215614369 215614369 single base substitution C T intron_variant LICA-FR 2 215645796 215645796 single base substitution C T 3_prime_UTR_variant LICA-FR 2 215645796 215645796 single base substitution C T exon_variant LICA-FR 2 215645796 215645796 single base substitution C T intron_variant LICA-FR 2 215645796 215645796 single base substitution C T missense_variant E124K 370G>A LICA-FR 2 215645796 215645796 single base substitution C T missense_variant E268K 802G>A LICA-FR 2 215656875 215656875 deletion of <=200bp A - downstream_gene_variant LICA-FR 2 215656875 215656875 deletion of <=200bp A - intron_variant LICA-FR 2 215666161 215666161 single base substitution T G intron_variant LICA-FR 2 215671601 215671601 insertion of <=200bp - AAA intron_variant LICA-FR 2 215676658 215676658 single base substitution G A upstream_gene_variant LIHC-US 2 215617259 215617259 single base substitution G A 3_prime_UTR_variant LIHC-US 2 215617259 215617259 single base substitution G A missense_variant P386L 1157C>T LIHC-US 2 215617259 215617259 single base substitution G A missense_variant P530L 1589C>T LIHC-US 2 215617259 215617259 single base substitution G A missense_variant P79L 236C>T LIHC-US 2 215617259 215617259 single base substitution G A upstream_gene_variant LIHC-US 2 215646146 215646146 single base substitution C T 3_prime_UTR_variant LIHC-US 2 215646146 215646146 single base substitution C T exon_variant LIHC-US 2 215646146 215646146 single base substitution C T intron_variant LIHC-US 2 215646146 215646146 single base substitution C T missense_variant S151N 452G>A LIHC-US 2 215646146 215646146 single base substitution C T missense_variant S7N 20G>A LINC-JP 2 215593660 215593660 single base substitution T A 3_prime_UTR_variant LINC-JP 2 215593660 215593660 single base substitution T A downstream_gene_variant LINC-JP 2 215593660 215593660 single base substitution T A exon_variant LINC-JP 2 215593660 215593660 single base substitution T A missense_variant I63F 187A>T LINC-JP 2 215593660 215593660 single base substitution T A missense_variant I692F 2074A>T LINC-JP 2 215593660 215593660 single base substitution T A missense_variant L546F 1638A>T LINC-JP 2 215602585 215602585 single base substitution T C intron_variant LINC-JP 2 215609757 215609757 single base substitution T C downstream_gene_variant LINC-JP 2 215609757 215609757 single base substitution T C intron_variant LINC-JP 2 215627147 215627147 single base substitution A G intron_variant LINC-JP 2 215627615 215627615 single base substitution T C intron_variant LINC-JP 2 215627619 215627619 single base substitution A C intron_variant LINC-JP 2 215631327 215631327 single base substitution A T intron_variant LINC-JP 2 215637262 215637262 single base substitution G T intron_variant LINC-JP 2 215639242 215639242 single base substitution C A intron_variant LINC-JP 2 215645459 215645459 single base substitution T G 3_prime_UTR_variant LINC-JP 2 215645459 215645459 single base substitution T G downstream_gene_variant LINC-JP 2 215645459 215645459 single base substitution T G intron_variant LINC-JP 2 215645459 215645459 single base substitution T G missense_variant N236T 707A>C LINC-JP 2 215645459 215645459 single base substitution T G missense_variant N380T 1139A>C LINC-JP 2 215646009 215646009 single base substitution T A 3_prime_UTR_variant LINC-JP 2 215646009 215646009 single base substitution T A exon_variant LINC-JP 2 215646009 215646009 single base substitution T A intron_variant LINC-JP 2 215646009 215646009 single base substitution T A stop_gained K197* 589A>T LINC-JP 2 215646009 215646009 single base substitution T A stop_gained K53* 157A>T LINC-JP 2 215646449 215646449 single base substitution T C intron_variant LINC-JP 2 215656875 215656875 single base substitution A T downstream_gene_variant LINC-JP 2 215656875 215656875 single base substitution A T intron_variant LINC-JP 2 215661584 215661584 single base substitution C T exon_variant LINC-JP 2 215661584 215661584 single base substitution C T intron_variant LINC-JP 2 215664228 215664228 single base substitution C A intron_variant LINC-JP 2 215666961 215666961 single base substitution T G intron_variant LINC-JP 2 215677281 215677281 deletion of <=200bp T - upstream_gene_variant LIRI-JP 2 215586581 215586581 single base substitution T C downstream_gene_variant LIRI-JP 2 215586765 215586765 single base substitution T C downstream_gene_variant LIRI-JP 2 215588878 215588878 single base substitution T C downstream_gene_variant LIRI-JP 2 215589017 215589017 single base substitution G A downstream_gene_variant LIRI-JP 2 215589314 215589314 single base substitution T C downstream_gene_variant LIRI-JP 2 215589477 215589477 single base substitution C A downstream_gene_variant LIRI-JP 2 215591093 215591093 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 215591093 215591093 single base substitution T C downstream_gene_variant LIRI-JP 2 215592191 215592191 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 215592191 215592191 single base substitution T C downstream_gene_variant LIRI-JP 2 215592741 215592741 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 215592741 215592741 single base substitution G A downstream_gene_variant LIRI-JP 2 215594387 215594387 single base substitution T C downstream_gene_variant LIRI-JP 2 215594387 215594387 single base substitution T C intron_variant LIRI-JP 2 215594975 215594975 single base substitution C T downstream_gene_variant LIRI-JP 2 215594975 215594975 single base substitution C T exon_variant LIRI-JP 2 215594975 215594975 single base substitution C T intron_variant LIRI-JP 2 215597706 215597706 single base substitution T C intron_variant LIRI-JP 2 215597706 215597706 single base substitution T C upstream_gene_variant LIRI-JP 2 215598496 215598496 single base substitution A G intron_variant LIRI-JP 2 215598496 215598496 single base substitution A G upstream_gene_variant LIRI-JP 2 215600356 215600356 single base substitution C A intron_variant LIRI-JP 2 215600356 215600356 single base substitution C A upstream_gene_variant LIRI-JP 2 215600997 215600997 single base substitution T C intron_variant LIRI-JP 2 215601695 215601695 single base substitution T C intron_variant LIRI-JP 2 215601825 215601825 single base substitution T C intron_variant LIRI-JP 2 215602131 215602131 single base substitution T C intron_variant LIRI-JP 2 215605489 215605489 single base substitution T C downstream_gene_variant LIRI-JP 2 215605489 215605489 single base substitution T C intron_variant LIRI-JP 2 215606893 215606893 single base substitution C T downstream_gene_variant LIRI-JP 2 215606893 215606893 single base substitution C T intron_variant LIRI-JP 2 215608667 215608667 single base substitution A T downstream_gene_variant LIRI-JP 2 215608667 215608667 single base substitution A T intron_variant LIRI-JP 2 215611062 215611062 single base substitution T C intron_variant LIRI-JP 2 215611380 215611380 single base substitution T C intron_variant LIRI-JP 2 215611406 215611406 single base substitution A C intron_variant LIRI-JP 2 215611883 215611883 single base substitution C A intron_variant LIRI-JP 2 215618402 215618402 single base substitution T G intron_variant LIRI-JP 2 215618402 215618402 single base substitution T G upstream_gene_variant LIRI-JP 2 215619909 215619909 single base substitution T C intron_variant LIRI-JP 2 215619909 215619909 single base substitution T C upstream_gene_variant LIRI-JP 2 215620449 215620449 single base substitution T C intron_variant LIRI-JP 2 215620449 215620449 single base substitution T C upstream_gene_variant LIRI-JP 2 215623219 215623219 single base substitution A T intron_variant LIRI-JP 2 215623527 215623527 single base substitution T C intron_variant LIRI-JP 2 215624204 215624204 single base substitution A G intron_variant LIRI-JP 2 215625830 215625830 single base substitution T C intron_variant LIRI-JP 2 215627604 215627604 single base substitution C A intron_variant LIRI-JP 2 215629494 215629494 single base substitution A C intron_variant LIRI-JP 2 215629795 215629795 single base substitution T C intron_variant LIRI-JP 2 215629825 215629825 single base substitution T C intron_variant LIRI-JP 2 215630788 215630788 single base substitution T A intron_variant LIRI-JP 2 215630790 215630790 single base substitution C T intron_variant LIRI-JP 2 215632766 215632766 single base substitution T C intron_variant LIRI-JP 2 215636376 215636376 single base substitution C A intron_variant LIRI-JP 2 215636779 215636779 single base substitution C T intron_variant LIRI-JP 2 215638186 215638186 single base substitution T G intron_variant LIRI-JP 2 215641041 215641041 single base substitution A T downstream_gene_variant LIRI-JP 2 215641041 215641041 single base substitution A T intron_variant LIRI-JP 2 215641121 215641121 single base substitution T C downstream_gene_variant LIRI-JP 2 215641121 215641121 single base substitution T C intron_variant LIRI-JP 2 215641134 215641134 single base substitution C A downstream_gene_variant LIRI-JP 2 215641134 215641134 single base substitution C A intron_variant LIRI-JP 2 215642164 215642164 single base substitution C A downstream_gene_variant LIRI-JP 2 215642164 215642164 single base substitution C A intron_variant LIRI-JP 2 215642582 215642582 single base substitution T A downstream_gene_variant LIRI-JP 2 215642582 215642582 single base substitution T A intron_variant LIRI-JP 2 215643470 215643470 single base substitution C A downstream_gene_variant LIRI-JP 2 215643470 215643470 single base substitution C A intron_variant LIRI-JP 2 215643933 215643933 single base substitution T C downstream_gene_variant LIRI-JP 2 215643933 215643933 single base substitution T C intron_variant LIRI-JP 2 215645168 215645168 single base substitution C T downstream_gene_variant LIRI-JP 2 215645168 215645168 single base substitution C T intron_variant LIRI-JP 2 215646655 215646655 single base substitution A C intron_variant LIRI-JP 2 215647161 215647161 single base substitution T C intron_variant LIRI-JP 2 215647167 215647167 single base substitution A C intron_variant LIRI-JP 2 215649836 215649836 single base substitution T C intron_variant LIRI-JP 2 215650393 215650393 insertion of <=200bp - T intron_variant LIRI-JP 2 215651117 215651117 single base substitution C A intron_variant LIRI-JP 2 215652401 215652401 single base substitution G A intron_variant LIRI-JP 2 215653210 215653210 single base substitution C A intron_variant LIRI-JP 2 215653315 215653315 single base substitution T C intron_variant LIRI-JP 2 215653949 215653949 single base substitution T C intron_variant LIRI-JP 2 215655563 215655563 single base substitution C T intron_variant LIRI-JP 2 215656481 215656481 single base substitution T A intron_variant LIRI-JP 2 215656554 215656554 single base substitution A G downstream_gene_variant LIRI-JP 2 215656554 215656554 single base substitution A G intron_variant LIRI-JP 2 215662095 215662095 single base substitution T C intron_variant LIRI-JP 2 215662347 215662347 single base substitution G A intron_variant LIRI-JP 2 215666801 215666801 single base substitution A G intron_variant LIRI-JP 2 215667921 215667921 single base substitution C A intron_variant LIRI-JP 2 215668884 215668884 single base substitution C A intron_variant LIRI-JP 2 215669002 215669002 single base substitution G C intron_variant LIRI-JP 2 215669622 215669622 single base substitution C G intron_variant LIRI-JP 2 215671085 215671085 single base substitution T C intron_variant LIRI-JP 2 215674288 215674288 single base substitution C T 5_prime_UTR_variant LIRI-JP 2 215674288 215674288 single base substitution C T exon_variant LIRI-JP 2 215674288 215674288 single base substitution C T synonymous_variant P2P 6G>A LIRI-JP 2 215674294 215674294 single base substitution C T 5_prime_UTR_variant LIRI-JP 2 215674294 215674294 single base substitution C T exon_variant LIRI-JP 2 215675125 215675125 single base substitution G T upstream_gene_variant LIRI-JP 2 215675406 215675406 single base substitution C T upstream_gene_variant LIRI-JP 2 215675770 215675770 single base substitution G A upstream_gene_variant LIRI-JP 2 215676271 215676271 single base substitution A G upstream_gene_variant LIRI-JP 2 215677741 215677741 single base substitution A C upstream_gene_variant LUSC-KR 2 215589741 215589741 single base substitution C A downstream_gene_variant LUSC-KR 2 215594625 215594625 single base substitution G A downstream_gene_variant LUSC-KR 2 215594625 215594625 single base substitution G A intron_variant LUSC-KR 2 215594724 215594724 single base substitution T A downstream_gene_variant LUSC-KR 2 215594724 215594724 single base substitution T A intron_variant LUSC-KR 2 215595312 215595312 single base substitution C A intron_variant LUSC-KR 2 215595312 215595312 single base substitution C A upstream_gene_variant LUSC-KR 2 215599540 215599540 single base substitution C A intron_variant LUSC-KR 2 215599540 215599540 single base substitution C A upstream_gene_variant LUSC-KR 2 215599681 215599681 single base substitution G C intron_variant LUSC-KR 2 215599681 215599681 single base substitution G C upstream_gene_variant LUSC-KR 2 215600631 215600631 single base substitution C G intron_variant LUSC-KR 2 215600631 215600631 single base substitution C G upstream_gene_variant LUSC-KR 2 215606014 215606014 single base substitution A C downstream_gene_variant LUSC-KR 2 215606014 215606014 single base substitution A C intron_variant LUSC-KR 2 215608376 215608376 single base substitution C A downstream_gene_variant LUSC-KR 2 215608376 215608376 single base substitution C A intron_variant LUSC-KR 2 215608710 215608710 single base substitution T C downstream_gene_variant LUSC-KR 2 215608710 215608710 single base substitution T C intron_variant LUSC-KR 2 215611700 215611700 single base substitution C A intron_variant LUSC-KR 2 215615411 215615411 single base substitution C A intron_variant LUSC-KR 2 215617592 215617592 single base substitution T A intron_variant LUSC-KR 2 215617592 215617592 single base substitution T A upstream_gene_variant LUSC-KR 2 215618126 215618126 single base substitution G A intron_variant LUSC-KR 2 215618126 215618126 single base substitution G A upstream_gene_variant LUSC-KR 2 215618695 215618695 single base substitution C T intron_variant LUSC-KR 2 215618695 215618695 single base substitution C T upstream_gene_variant LUSC-KR 2 215619626 215619626 single base substitution T A intron_variant LUSC-KR 2 215619626 215619626 single base substitution T A upstream_gene_variant LUSC-KR 2 215619688 215619688 single base substitution C A intron_variant LUSC-KR 2 215619688 215619688 single base substitution C A upstream_gene_variant LUSC-KR 2 215627286 215627286 single base substitution C A intron_variant LUSC-KR 2 215632155 215632155 single base substitution T C intron_variant LUSC-KR 2 215636406 215636406 single base substitution C G intron_variant LUSC-KR 2 215636514 215636514 single base substitution C G intron_variant LUSC-KR 2 215643445 215643445 single base substitution G C downstream_gene_variant LUSC-KR 2 215643445 215643445 single base substitution G C intron_variant LUSC-KR 2 215645276 215645276 single base substitution C A downstream_gene_variant LUSC-KR 2 215645276 215645276 single base substitution C A intron_variant LUSC-KR 2 215645276 215645276 single base substitution C A splice_region_variant LUSC-KR 2 215645277 215645277 single base substitution A T downstream_gene_variant LUSC-KR 2 215645277 215645277 single base substitution A T intron_variant LUSC-KR 2 215645277 215645277 single base substitution A T splice_region_variant LUSC-KR 2 215646375 215646375 single base substitution C G intron_variant LUSC-KR 2 215647851 215647851 single base substitution G A intron_variant LUSC-KR 2 215653505 215653505 single base substitution C A intron_variant LUSC-KR 2 215654569 215654569 single base substitution G T intron_variant LUSC-KR 2 215654762 215654762 single base substitution C G intron_variant LUSC-KR 2 215654867 215654867 single base substitution C G intron_variant LUSC-KR 2 215662251 215662251 single base substitution A G intron_variant LUSC-KR 2 215670312 215670312 single base substitution C A intron_variant LUSC-KR 2 215677695 215677695 single base substitution A C upstream_gene_variant LUSC-KR 2 215678161 215678161 single base substitution C G upstream_gene_variant LUSC-US 2 215595156 215595156 single base substitution G C 3_prime_UTR_variant LUSC-US 2 215595156 215595156 single base substitution G C exon_variant LUSC-US 2 215595156 215595156 single base substitution G C missense_variant S209R 627C>G LUSC-US 2 215595156 215595156 single base substitution G C missense_variant S31R 93C>G LUSC-US 2 215595156 215595156 single base substitution G C missense_variant S516R 1548C>G LUSC-US 2 215595156 215595156 single base substitution G C missense_variant S660R 1980C>G LUSC-US 2 215617174 215617174 single base substitution T A 3_prime_UTR_variant LUSC-US 2 215617174 215617174 single base substitution T A exon_variant LUSC-US 2 215617174 215617174 single base substitution T A synonymous_variant S107S 321A>T LUSC-US 2 215617174 215617174 single base substitution T A synonymous_variant S414S 1242A>T LUSC-US 2 215617174 215617174 single base substitution T A synonymous_variant S558S 1674A>T LUSC-US 2 215645361 215645361 single base substitution C T 3_prime_UTR_variant LUSC-US 2 215645361 215645361 single base substitution C T downstream_gene_variant LUSC-US 2 215645361 215645361 single base substitution C T intron_variant LUSC-US 2 215645361 215645361 single base substitution C T missense_variant A269T 805G>A LUSC-US 2 215645361 215645361 single base substitution C T missense_variant A413T 1237G>A LUSC-US 2 215645366 215645366 single base substitution G T 3_prime_UTR_variant LUSC-US 2 215645366 215645366 single base substitution G T downstream_gene_variant LUSC-US 2 215645366 215645366 single base substitution G T intron_variant LUSC-US 2 215645366 215645366 single base substitution G T missense_variant P267H 800C>A LUSC-US 2 215645366 215645366 single base substitution G T missense_variant P411H 1232C>A LUSC-US 2 215645566 215645566 single base substitution A C 3_prime_UTR_variant LUSC-US 2 215645566 215645566 single base substitution A C downstream_gene_variant LUSC-US 2 215645566 215645566 single base substitution A C intron_variant LUSC-US 2 215645566 215645566 single base substitution A C missense_variant S200R 600T>G LUSC-US 2 215645566 215645566 single base substitution A C missense_variant S344R 1032T>G MALY-DE 2 215586154 215586154 single base substitution G A downstream_gene_variant MALY-DE 2 215587769 215587769 single base substitution A T downstream_gene_variant MALY-DE 2 215600410 215600410 single base substitution G C intron_variant MALY-DE 2 215600410 215600410 single base substitution G C upstream_gene_variant MALY-DE 2 215605611 215605614 deletion of <=200bp TTAA - downstream_gene_variant MALY-DE 2 215605611 215605614 deletion of <=200bp TTAA - intron_variant MALY-DE 2 215606109 215606109 single base substitution A T downstream_gene_variant MALY-DE 2 215606109 215606109 single base substitution A T intron_variant MALY-DE 2 215608708 215608724 deletion of <=200bp ACTAATCTTTTGTAACT - downstream_gene_variant MALY-DE 2 215608708 215608724 deletion of <=200bp ACTAATCTTTTGTAACT - intron_variant MALY-DE 2 215615574 215615574 single base substitution T C intron_variant MALY-DE 2 215619106 215619106 single base substitution A G intron_variant MALY-DE 2 215619106 215619106 single base substitution A G upstream_gene_variant MALY-DE 2 215633111 215633111 single base substitution C G intron_variant MALY-DE 2 215646503 215646503 single base substitution C A intron_variant MALY-DE 2 215648886 215648893 deletion of <=200bp TACAAAGA - intron_variant MALY-DE 2 215652925 215652925 single base substitution T A intron_variant MALY-DE 2 215655006 215655006 single base substitution T C intron_variant MALY-DE 2 215656918 215656918 single base substitution C T downstream_gene_variant MALY-DE 2 215656918 215656918 single base substitution C T intron_variant MALY-DE 2 215658287 215658287 single base substitution T C downstream_gene_variant MALY-DE 2 215658287 215658287 single base substitution T C intron_variant MALY-DE 2 215660634 215660634 single base substitution C A downstream_gene_variant MALY-DE 2 215660634 215660634 single base substitution C A intron_variant MALY-DE 2 215677250 215677250 single base substitution C G upstream_gene_variant MELA-AU 2 215585421 215585421 single base substitution G A downstream_gene_variant MELA-AU 2 215585422 215585422 single base substitution G A downstream_gene_variant MELA-AU 2 215585751 215585751 single base substitution C T downstream_gene_variant MELA-AU 2 215585879 215585879 single base substitution G A downstream_gene_variant MELA-AU 2 215586731 215586732 multiple base substitution (>=2bp and <=200bp) AA TT downstream_gene_variant MELA-AU 2 215586818 215586818 single base substitution G A downstream_gene_variant MELA-AU 2 215586976 215586976 single base substitution G T downstream_gene_variant MELA-AU 2 215587496 215587496 single base substitution C T downstream_gene_variant MELA-AU 2 215587816 215587816 single base substitution G T downstream_gene_variant MELA-AU 2 215587930 215587930 single base substitution G A downstream_gene_variant MELA-AU 2 215588112 215588112 single base substitution G A downstream_gene_variant MELA-AU 2 215588229 215588229 single base substitution A C downstream_gene_variant MELA-AU 2 215588271 215588271 single base substitution C T downstream_gene_variant MELA-AU 2 215588483 215588483 single base substitution G A downstream_gene_variant MELA-AU 2 215588573 215588573 single base substitution A G downstream_gene_variant MELA-AU 2 215588991 215588991 single base substitution G A downstream_gene_variant MELA-AU 2 215589100 215589100 single base substitution A G downstream_gene_variant MELA-AU 2 215589475 215589475 single base substitution A C downstream_gene_variant MELA-AU 2 215590122 215590122 single base substitution G A downstream_gene_variant MELA-AU 2 215590133 215590133 single base substitution G A downstream_gene_variant MELA-AU 2 215590149 215590149 single base substitution C G downstream_gene_variant MELA-AU 2 215590447 215590447 single base substitution G A 3_prime_UTR_variant MELA-AU 2 215590447 215590447 single base substitution G A downstream_gene_variant MELA-AU 2 215590689 215590689 single base substitution G A 3_prime_UTR_variant MELA-AU 2 215590689 215590689 single base substitution G A downstream_gene_variant MELA-AU 2 215591029 215591029 single base substitution G A 3_prime_UTR_variant MELA-AU 2 215591029 215591029 single base substitution G A downstream_gene_variant MELA-AU 2 215591398 215591398 single base substitution G A 3_prime_UTR_variant MELA-AU 2 215591398 215591398 single base substitution G A downstream_gene_variant MELA-AU 2 215592183 215592183 single base substitution G A 3_prime_UTR_variant MELA-AU 2 215592183 215592183 single base substitution G A downstream_gene_variant MELA-AU 2 215592833 215592833 single base substitution G A 3_prime_UTR_variant MELA-AU 2 215592833 215592833 single base substitution G A downstream_gene_variant MELA-AU 2 215592872 215592872 single base substitution G A 3_prime_UTR_variant MELA-AU 2 215592872 215592872 single base substitution G A downstream_gene_variant MELA-AU 2 215593919 215593919 single base substitution G A downstream_gene_variant MELA-AU 2 215593919 215593919 single base substitution G A intron_variant MELA-AU 2 215593945 215593945 single base substitution A T downstream_gene_variant MELA-AU 2 215593945 215593945 single base substitution A T intron_variant MELA-AU 2 215594236 215594236 single base substitution G A downstream_gene_variant MELA-AU 2 215594236 215594236 single base substitution G A intron_variant MELA-AU 2 215595841 215595841 single base substitution G A 5_prime_UTR_variant MELA-AU 2 215595841 215595841 single base substitution G A intron_variant MELA-AU 2 215595841 215595841 single base substitution G A upstream_gene_variant MELA-AU 2 215596935 215596935 single base substitution G A intron_variant MELA-AU 2 215596935 215596935 single base substitution G A upstream_gene_variant MELA-AU 2 215597128 215597128 single base substitution T C intron_variant MELA-AU 2 215597128 215597128 single base substitution T C upstream_gene_variant MELA-AU 2 215597144 215597144 single base substitution G A intron_variant MELA-AU 2 215597144 215597144 single base substitution G A upstream_gene_variant MELA-AU 2 215597165 215597165 single base substitution G A intron_variant MELA-AU 2 215597165 215597165 single base substitution G A upstream_gene_variant MELA-AU 2 215598413 215598413 single base substitution G A intron_variant MELA-AU 2 215598413 215598413 single base substitution G A upstream_gene_variant MELA-AU 2 215598850 215598850 single base substitution G C intron_variant MELA-AU 2 215598850 215598850 single base substitution G C upstream_gene_variant MELA-AU 2 215598981 215598981 single base substitution A T intron_variant MELA-AU 2 215598981 215598981 single base substitution A T upstream_gene_variant MELA-AU 2 215599230 215599230 single base substitution G A intron_variant MELA-AU 2 215599230 215599230 single base substitution G A upstream_gene_variant MELA-AU 2 215599589 215599589 single base substitution C T intron_variant MELA-AU 2 215599589 215599589 single base substitution C T upstream_gene_variant MELA-AU 2 215600427 215600427 single base substitution C G intron_variant MELA-AU 2 215600427 215600427 single base substitution C G upstream_gene_variant MELA-AU 2 215601740 215601740 single base substitution T A intron_variant MELA-AU 2 215601808 215601808 single base substitution A G intron_variant MELA-AU 2 215603516 215603516 single base substitution G A intron_variant MELA-AU 2 215603794 215603794 single base substitution A G intron_variant MELA-AU 2 215603868 215603868 single base substitution G A intron_variant MELA-AU 2 215604249 215604249 single base substitution G A intron_variant MELA-AU 2 215605002 215605002 single base substitution G A intron_variant MELA-AU 2 215606058 215606058 single base substitution G A downstream_gene_variant MELA-AU 2 215606058 215606058 single base substitution G A intron_variant MELA-AU 2 215606705 215606705 single base substitution G A downstream_gene_variant MELA-AU 2 215606705 215606705 single base substitution G A intron_variant MELA-AU 2 215606999 215606999 single base substitution C G downstream_gene_variant MELA-AU 2 215606999 215606999 single base substitution C G intron_variant MELA-AU 2 215607243 215607243 single base substitution G A downstream_gene_variant MELA-AU 2 215607243 215607243 single base substitution G A intron_variant MELA-AU 2 215607346 215607346 single base substitution A T downstream_gene_variant MELA-AU 2 215607346 215607346 single base substitution A T intron_variant MELA-AU 2 215607348 215607348 single base substitution T C downstream_gene_variant MELA-AU 2 215607348 215607348 single base substitution T C intron_variant MELA-AU 2 215607613 215607613 single base substitution G A downstream_gene_variant MELA-AU 2 215607613 215607613 single base substitution G A intron_variant MELA-AU 2 215607816 215607816 single base substitution G A downstream_gene_variant MELA-AU 2 215607816 215607816 single base substitution G A intron_variant MELA-AU 2 215608831 215608831 single base substitution A T downstream_gene_variant MELA-AU 2 215608831 215608831 single base substitution A T intron_variant MELA-AU 2 215609111 215609111 single base substitution G A downstream_gene_variant MELA-AU 2 215609111 215609111 single base substitution G A intron_variant MELA-AU 2 215610068 215610068 single base substitution G A downstream_gene_variant MELA-AU 2 215610068 215610068 single base substitution G A intron_variant MELA-AU 2 215610723 215610723 single base substitution C T intron_variant MELA-AU 2 215610766 215610766 single base substitution G A intron_variant MELA-AU 2 215611002 215611002 single base substitution A G intron_variant MELA-AU 2 215611082 215611082 single base substitution G A intron_variant MELA-AU 2 215611361 215611361 single base substitution C T intron_variant MELA-AU 2 215612592 215612592 single base substitution A T intron_variant MELA-AU 2 215612596 215612596 single base substitution T A intron_variant MELA-AU 2 215612885 215612885 single base substitution G A intron_variant MELA-AU 2 215613169 215613169 single base substitution A G intron_variant MELA-AU 2 215614440 215614440 single base substitution T A intron_variant MELA-AU 2 215615095 215615095 single base substitution G A intron_variant MELA-AU 2 215615555 215615555 single base substitution A G intron_variant MELA-AU 2 215616333 215616333 single base substitution G A intron_variant MELA-AU 2 215616540 215616540 single base substitution C T intron_variant MELA-AU 2 215617226 215617226 single base substitution G A 3_prime_UTR_variant MELA-AU 2 215617226 215617226 single base substitution G A missense_variant S397L 1190C>T MELA-AU 2 215617226 215617226 single base substitution G A missense_variant S541L 1622C>T MELA-AU 2 215617226 215617226 single base substitution G A missense_variant S90L 269C>T MELA-AU 2 215617226 215617226 single base substitution G A upstream_gene_variant MELA-AU 2 215617939 215617939 single base substitution A C intron_variant MELA-AU 2 215617939 215617939 single base substitution A C upstream_gene_variant MELA-AU 2 215619039 215619039 single base substitution C G intron_variant MELA-AU 2 215619039 215619039 single base substitution C G upstream_gene_variant MELA-AU 2 215619303 215619303 single base substitution G A intron_variant MELA-AU 2 215619303 215619303 single base substitution G A upstream_gene_variant MELA-AU 2 215619313 215619313 single base substitution C T intron_variant MELA-AU 2 215619313 215619313 single base substitution C T upstream_gene_variant MELA-AU 2 215619335 215619335 single base substitution G A intron_variant MELA-AU 2 215619335 215619335 single base substitution G A upstream_gene_variant MELA-AU 2 215619674 215619674 single base substitution G A intron_variant MELA-AU 2 215619674 215619674 single base substitution G A upstream_gene_variant MELA-AU 2 215620197 215620197 single base substitution C T intron_variant MELA-AU 2 215620197 215620197 single base substitution C T upstream_gene_variant MELA-AU 2 215620247 215620247 single base substitution A G intron_variant MELA-AU 2 215620247 215620247 single base substitution A G upstream_gene_variant MELA-AU 2 215620383 215620388 deletion of <=200bp TTACTG - intron_variant MELA-AU 2 215620383 215620388 deletion of <=200bp TTACTG - upstream_gene_variant MELA-AU 2 215620410 215620410 single base substitution G A intron_variant MELA-AU 2 215620410 215620410 single base substitution G A upstream_gene_variant MELA-AU 2 215620706 215620706 single base substitution G A intron_variant MELA-AU 2 215620706 215620706 single base substitution G A upstream_gene_variant MELA-AU 2 215621756 215621756 single base substitution C T intron_variant MELA-AU 2 215621756 215621756 single base substitution C T upstream_gene_variant MELA-AU 2 215622666 215622666 single base substitution G A intron_variant MELA-AU 2 215622701 215622701 single base substitution G C intron_variant MELA-AU 2 215622850 215622850 single base substitution A T intron_variant MELA-AU 2 215623122 215623122 single base substitution A G intron_variant MELA-AU 2 215623385 215623385 single base substitution G A intron_variant MELA-AU 2 215623927 215623927 single base substitution T C intron_variant MELA-AU 2 215624286 215624286 single base substitution G A intron_variant MELA-AU 2 215624461 215624462 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 215625009 215625009 single base substitution C T intron_variant MELA-AU 2 215625982 215625982 single base substitution T A intron_variant MELA-AU 2 215626546 215626546 single base substitution T A intron_variant MELA-AU 2 215628071 215628071 single base substitution A G intron_variant MELA-AU 2 215628172 215628172 single base substitution G A intron_variant MELA-AU 2 215629101 215629101 single base substitution G A intron_variant MELA-AU 2 215629280 215629280 single base substitution G T intron_variant MELA-AU 2 215629492 215629492 insertion of <=200bp - GTAACCT intron_variant MELA-AU 2 215630210 215630210 single base substitution A T intron_variant MELA-AU 2 215630840 215630840 single base substitution G A intron_variant MELA-AU 2 215631052 215631052 single base substitution A T intron_variant MELA-AU 2 215631110 215631110 single base substitution G A intron_variant MELA-AU 2 215631244 215631244 single base substitution A G intron_variant MELA-AU 2 215632518 215632518 single base substitution A G intron_variant MELA-AU 2 215632793 215632793 single base substitution G A intron_variant MELA-AU 2 215634600 215634600 single base substitution G A intron_variant MELA-AU 2 215636009 215636009 single base substitution G A intron_variant MELA-AU 2 215636448 215636448 single base substitution C T intron_variant MELA-AU 2 215637666 215637666 single base substitution A G intron_variant MELA-AU 2 215637844 215637844 single base substitution A C intron_variant MELA-AU 2 215638927 215638927 single base substitution G A intron_variant MELA-AU 2 215639742 215639743 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 215640074 215640074 single base substitution G A intron_variant MELA-AU 2 215640091 215640092 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 2 215640214 215640214 single base substitution G C intron_variant MELA-AU 2 215640642 215640642 single base substitution G A downstream_gene_variant MELA-AU 2 215640642 215640642 single base substitution G A intron_variant MELA-AU 2 215640730 215640730 single base substitution G A downstream_gene_variant MELA-AU 2 215640730 215640730 single base substitution G A intron_variant MELA-AU 2 215641427 215641427 single base substitution G A downstream_gene_variant MELA-AU 2 215641427 215641427 single base substitution G A intron_variant MELA-AU 2 215641781 215641781 single base substitution G A downstream_gene_variant MELA-AU 2 215641781 215641781 single base substitution G A intron_variant MELA-AU 2 215641852 215641852 single base substitution G A downstream_gene_variant MELA-AU 2 215641852 215641852 single base substitution G A intron_variant MELA-AU 2 215642614 215642614 single base substitution G A downstream_gene_variant MELA-AU 2 215642614 215642614 single base substitution G A intron_variant MELA-AU 2 215642717 215642717 single base substitution C T downstream_gene_variant MELA-AU 2 215642717 215642717 single base substitution C T intron_variant MELA-AU 2 215642811 215642811 single base substitution T A downstream_gene_variant MELA-AU 2 215642811 215642811 single base substitution T A intron_variant MELA-AU 2 215645197 215645197 single base substitution A G downstream_gene_variant MELA-AU 2 215645197 215645197 single base substitution A G intron_variant MELA-AU 2 215645406 215645406 single base substitution T C 3_prime_UTR_variant MELA-AU 2 215645406 215645406 single base substitution T C downstream_gene_variant MELA-AU 2 215645406 215645406 single base substitution T C intron_variant MELA-AU 2 215645406 215645406 single base substitution T C missense_variant T254A 760A>G MELA-AU 2 215645406 215645406 single base substitution T C missense_variant T398A 1192A>G MELA-AU 2 215646398 215646398 single base substitution C A intron_variant MELA-AU 2 215646730 215646730 single base substitution G A intron_variant MELA-AU 2 215647560 215647560 single base substitution G A intron_variant MELA-AU 2 215647603 215647603 single base substitution G A intron_variant MELA-AU 2 215648018 215648018 single base substitution G A intron_variant MELA-AU 2 215648144 215648144 single base substitution G A intron_variant MELA-AU 2 215648522 215648522 single base substitution G A intron_variant MELA-AU 2 215648937 215648937 single base substitution G A intron_variant MELA-AU 2 215648996 215648996 single base substitution G A intron_variant MELA-AU 2 215649205 215649205 single base substitution G A intron_variant MELA-AU 2 215649264 215649264 single base substitution G A intron_variant MELA-AU 2 215649591 215649591 single base substitution G A intron_variant MELA-AU 2 215650874 215650874 single base substitution T C intron_variant MELA-AU 2 215651908 215651908 single base substitution G A intron_variant MELA-AU 2 215652951 215652951 single base substitution A G intron_variant MELA-AU 2 215652957 215652958 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 215653921 215653921 single base substitution A C intron_variant MELA-AU 2 215654595 215654596 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 215654768 215654768 single base substitution T C intron_variant MELA-AU 2 215654779 215654779 single base substitution G A intron_variant MELA-AU 2 215654854 215654854 single base substitution G T intron_variant MELA-AU 2 215655625 215655625 single base substitution A G intron_variant MELA-AU 2 215655659 215655660 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 215655664 215655664 single base substitution G A intron_variant MELA-AU 2 215656077 215656077 single base substitution G A intron_variant MELA-AU 2 215656160 215656160 single base substitution C G intron_variant MELA-AU 2 215656606 215656606 single base substitution G A downstream_gene_variant MELA-AU 2 215656606 215656606 single base substitution G A intron_variant MELA-AU 2 215657008 215657008 single base substitution G A downstream_gene_variant MELA-AU 2 215657008 215657008 single base substitution G A intron_variant MELA-AU 2 215657548 215657548 single base substitution G A downstream_gene_variant MELA-AU 2 215657548 215657548 single base substitution G A intron_variant MELA-AU 2 215657628 215657628 single base substitution C T downstream_gene_variant MELA-AU 2 215657628 215657628 single base substitution C T intron_variant MELA-AU 2 215657712 215657713 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 215657712 215657713 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 215658245 215658245 single base substitution T C downstream_gene_variant MELA-AU 2 215658245 215658245 single base substitution T C intron_variant MELA-AU 2 215659029 215659029 single base substitution G T downstream_gene_variant MELA-AU 2 215659029 215659029 single base substitution G T intron_variant MELA-AU 2 215659421 215659421 single base substitution C T downstream_gene_variant MELA-AU 2 215659421 215659421 single base substitution C T intron_variant MELA-AU 2 215660040 215660040 single base substitution G A downstream_gene_variant MELA-AU 2 215660040 215660040 single base substitution G A intron_variant MELA-AU 2 215660227 215660227 single base substitution G A downstream_gene_variant MELA-AU 2 215660227 215660227 single base substitution G A intron_variant MELA-AU 2 215660601 215660601 single base substitution G A downstream_gene_variant MELA-AU 2 215660601 215660601 single base substitution G A intron_variant MELA-AU 2 215660826 215660826 single base substitution T G downstream_gene_variant MELA-AU 2 215660826 215660826 single base substitution T G intron_variant MELA-AU 2 215661355 215661355 single base substitution G A downstream_gene_variant MELA-AU 2 215661355 215661355 single base substitution G A intron_variant MELA-AU 2 215661482 215661482 single base substitution A C downstream_gene_variant MELA-AU 2 215661482 215661482 single base substitution A C intron_variant MELA-AU 2 215661577 215661577 single base substitution G A exon_variant MELA-AU 2 215661577 215661577 single base substitution G A intron_variant MELA-AU 2 215662939 215662939 single base substitution G A intron_variant MELA-AU 2 215664059 215664059 single base substitution A T intron_variant MELA-AU 2 215664284 215664284 single base substitution G A intron_variant MELA-AU 2 215665189 215665189 single base substitution G A intron_variant MELA-AU 2 215667148 215667148 single base substitution T G intron_variant MELA-AU 2 215667338 215667339 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 215667603 215667603 single base substitution T C intron_variant MELA-AU 2 215667915 215667915 insertion of <=200bp - GGCCTCAG intron_variant MELA-AU 2 215667992 215667992 single base substitution G A intron_variant MELA-AU 2 215668249 215668249 single base substitution T A intron_variant MELA-AU 2 215669132 215669132 single base substitution A T intron_variant MELA-AU 2 215669575 215669575 single base substitution G A intron_variant MELA-AU 2 215669704 215669704 single base substitution G A intron_variant MELA-AU 2 215670047 215670047 single base substitution G A intron_variant MELA-AU 2 215670774 215670774 single base substitution C T intron_variant MELA-AU 2 215671652 215671652 single base substitution G A intron_variant MELA-AU 2 215671856 215671856 single base substitution C T intron_variant MELA-AU 2 215671891 215671891 single base substitution A G intron_variant MELA-AU 2 215672251 215672251 single base substitution C G intron_variant MELA-AU 2 215672303 215672304 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 2 215672364 215672364 single base substitution G A intron_variant MELA-AU 2 215674054 215674054 single base substitution G A intron_variant MELA-AU 2 215674722 215674722 single base substitution G A upstream_gene_variant MELA-AU 2 215675463 215675463 single base substitution C T upstream_gene_variant MELA-AU 2 215676423 215676423 single base substitution C T upstream_gene_variant MELA-AU 2 215677364 215677364 single base substitution G A upstream_gene_variant MELA-AU 2 215678421 215678421 single base substitution C T upstream_gene_variant MELA-AU 2 215678450 215678450 single base substitution C T upstream_gene_variant MELA-AU 2 215678689 215678689 single base substitution C T upstream_gene_variant MELA-AU 2 215678702 215678702 single base substitution C T upstream_gene_variant MELA-AU 2 215679091 215679091 single base substitution C T upstream_gene_variant MELA-AU 2 215679265 215679265 single base substitution C T upstream_gene_variant ORCA-IN 2 215586140 215586140 single base substitution G T downstream_gene_variant ORCA-IN 2 215593413 215593413 single base substitution G A downstream_gene_variant ORCA-IN 2 215593413 215593413 single base substitution G A exon_variant ORCA-IN 2 215593413 215593413 single base substitution G A missense_variant P145L 434C>T ORCA-IN 2 215593413 215593413 single base substitution G A missense_variant P774L 2321C>T ORCA-IN 2 215624105 215624105 single base substitution A G intron_variant ORCA-IN 2 215660575 215660575 single base substitution C T downstream_gene_variant ORCA-IN 2 215660575 215660575 single base substitution C T intron_variant ORCA-IN 2 215669846 215669846 single base substitution C T intron_variant OV-AU 2 215587675 215587675 single base substitution T A downstream_gene_variant OV-AU 2 215589168 215589168 single base substitution C T downstream_gene_variant OV-AU 2 215597129 215597129 single base substitution T C intron_variant OV-AU 2 215597129 215597129 single base substitution T C upstream_gene_variant OV-AU 2 215597915 215597915 single base substitution A G intron_variant OV-AU 2 215597915 215597915 single base substitution A G upstream_gene_variant OV-AU 2 215599629 215599629 single base substitution C A intron_variant OV-AU 2 215599629 215599629 single base substitution C A upstream_gene_variant OV-AU 2 215603170 215603170 single base substitution A T intron_variant OV-AU 2 215607396 215607396 single base substitution G C downstream_gene_variant OV-AU 2 215607396 215607396 single base substitution G C intron_variant OV-AU 2 215608692 215608692 single base substitution T C downstream_gene_variant OV-AU 2 215608692 215608692 single base substitution T C intron_variant OV-AU 2 215636686 215636686 single base substitution T C intron_variant OV-AU 2 215647224 215647224 single base substitution T C intron_variant OV-AU 2 215660426 215660426 single base substitution T G downstream_gene_variant OV-AU 2 215660426 215660426 single base substitution T G intron_variant OV-AU 2 215663631 215663631 single base substitution C A intron_variant OV-AU 2 215665923 215665923 single base substitution C T intron_variant OV-AU 2 215669717 215669717 single base substitution T C intron_variant OV-AU 2 215674819 215674819 single base substitution G C upstream_gene_variant OV-AU 2 215678463 215678463 single base substitution G A upstream_gene_variant PACA-AU 2 215588709 215588709 insertion of <=200bp - GTGTGT downstream_gene_variant PACA-AU 2 215593939 215593939 single base substitution C T downstream_gene_variant PACA-AU 2 215593939 215593939 single base substitution C T intron_variant PACA-AU 2 215594686 215594686 single base substitution T A downstream_gene_variant PACA-AU 2 215594686 215594686 single base substitution T A intron_variant PACA-AU 2 215601061 215601061 single base substitution C T intron_variant PACA-AU 2 215603315 215603315 single base substitution T G intron_variant PACA-AU 2 215603380 215603380 deletion of <=200bp A - intron_variant PACA-AU 2 215603970 215603970 single base substitution A T intron_variant PACA-AU 2 215606329 215606329 single base substitution G A downstream_gene_variant PACA-AU 2 215606329 215606329 single base substitution G A intron_variant PACA-AU 2 215608723 215608723 single base substitution C T downstream_gene_variant PACA-AU 2 215608723 215608723 single base substitution C T intron_variant PACA-AU 2 215609174 215609174 single base substitution T C downstream_gene_variant PACA-AU 2 215609174 215609174 single base substitution T C intron_variant PACA-AU 2 215609807 215609808 multiple base substitution (>=2bp and <=200bp) CC AG 3_prime_UTR_variant PACA-AU 2 215609807 215609808 multiple base substitution (>=2bp and <=200bp) CC AG downstream_gene_variant PACA-AU 2 215609807 215609808 multiple base substitution (>=2bp and <=200bp) CC AG missense_variant W178S 533GG>CT PACA-AU 2 215609807 215609808 multiple base substitution (>=2bp and <=200bp) CC AG missense_variant W485S 1454GG>CT PACA-AU 2 215609807 215609808 multiple base substitution (>=2bp and <=200bp) CC AG missense_variant W629S 1886GG>CT PACA-AU 2 215612786 215612786 single base substitution A G intron_variant PACA-AU 2 215622293 215622293 single base substitution C A intron_variant PACA-AU 2 215622446 215622446 single base substitution T C intron_variant PACA-AU 2 215625921 215625921 single base substitution T C intron_variant PACA-AU 2 215629266 215629266 single base substitution G C intron_variant PACA-AU 2 215630504 215630504 single base substitution C T intron_variant PACA-AU 2 215632359 215632359 single base substitution C T 3_prime_UTR_variant PACA-AU 2 215632359 215632359 single base substitution C T intron_variant PACA-AU 2 215632359 215632359 single base substitution C T missense_variant G328E 983G>A PACA-AU 2 215632359 215632359 single base substitution C T missense_variant G472E 1415G>A PACA-AU 2 215634103 215634103 single base substitution T A intron_variant PACA-AU 2 215637641 215637641 single base substitution C A intron_variant PACA-AU 2 215638355 215638355 insertion of <=200bp - T intron_variant PACA-AU 2 215644092 215644092 single base substitution A G downstream_gene_variant PACA-AU 2 215644092 215644092 single base substitution A G intron_variant PACA-AU 2 215648619 215648619 single base substitution A C intron_variant PACA-AU 2 215655293 215655293 single base substitution C G intron_variant PACA-AU 2 215658162 215658162 single base substitution C G downstream_gene_variant PACA-AU 2 215658162 215658162 single base substitution C G intron_variant PACA-AU 2 215659057 215659057 single base substitution C T downstream_gene_variant PACA-AU 2 215659057 215659057 single base substitution C T intron_variant PACA-AU 2 215659609 215659609 single base substitution G C downstream_gene_variant PACA-AU 2 215659609 215659609 single base substitution G C intron_variant PACA-AU 2 215663010 215663010 single base substitution A G intron_variant PACA-AU 2 215665685 215665685 single base substitution C T intron_variant PACA-AU 2 215669785 215669785 single base substitution T C intron_variant PACA-AU 2 215670579 215670579 single base substitution T A intron_variant PACA-AU 2 215671481 215671481 single base substitution C A intron_variant PACA-AU 2 215671482 215671482 single base substitution C A intron_variant PACA-AU 2 215678212 215678212 single base substitution G T upstream_gene_variant PACA-CA 2 215585725 215585725 single base substitution G A downstream_gene_variant PACA-CA 2 215585856 215585856 deletion of <=200bp A - downstream_gene_variant PACA-CA 2 215586357 215586357 single base substitution T A downstream_gene_variant PACA-CA 2 215587533 215587533 single base substitution A T downstream_gene_variant PACA-CA 2 215595164 215595164 single base substitution G A 3_prime_UTR_variant PACA-CA 2 215595164 215595164 single base substitution G A exon_variant PACA-CA 2 215595164 215595164 single base substitution G A missense_variant R207C 619C>T PACA-CA 2 215595164 215595164 single base substitution G A missense_variant R29C 85C>T PACA-CA 2 215595164 215595164 single base substitution G A missense_variant R514C 1540C>T PACA-CA 2 215595164 215595164 single base substitution G A missense_variant R658C 1972C>T PACA-CA 2 215597347 215597359 deletion of <=200bp CTGACCTCGTGAT - intron_variant PACA-CA 2 215597347 215597359 deletion of <=200bp CTGACCTCGTGAT - upstream_gene_variant PACA-CA 2 215597846 215597846 single base substitution G A intron_variant PACA-CA 2 215597846 215597846 single base substitution G A upstream_gene_variant PACA-CA 2 215600073 215600075 deletion of <=200bp GAG - intron_variant PACA-CA 2 215600073 215600075 deletion of <=200bp GAG - upstream_gene_variant PACA-CA 2 215602165 215602165 single base substitution C G intron_variant PACA-CA 2 215604987 215604987 single base substitution T G intron_variant PACA-CA 2 215605532 215605532 single base substitution T A downstream_gene_variant PACA-CA 2 215605532 215605532 single base substitution T A intron_variant PACA-CA 2 215607346 215607346 single base substitution A G downstream_gene_variant PACA-CA 2 215607346 215607346 single base substitution A G intron_variant PACA-CA 2 215610468 215610468 single base substitution T C 3_prime_UTR_variant PACA-CA 2 215610468 215610468 single base substitution T C exon_variant PACA-CA 2 215610468 215610468 single base substitution T C synonymous_variant K145K 435A>G PACA-CA 2 215610468 215610468 single base substitution T C synonymous_variant K452K 1356A>G PACA-CA 2 215610468 215610468 single base substitution T C synonymous_variant K596K 1788A>G PACA-CA 2 215613223 215613223 single base substitution C A intron_variant PACA-CA 2 215613594 215613594 single base substitution C T intron_variant PACA-CA 2 215615991 215615991 single base substitution C T intron_variant PACA-CA 2 215617234 215617234 single base substitution A G 3_prime_UTR_variant PACA-CA 2 215617234 215617234 single base substitution A G synonymous_variant S394S 1182T>C PACA-CA 2 215617234 215617234 single base substitution A G synonymous_variant S538S 1614T>C PACA-CA 2 215617234 215617234 single base substitution A G synonymous_variant S87S 261T>C PACA-CA 2 215617234 215617234 single base substitution A G upstream_gene_variant PACA-CA 2 215617536 215617536 single base substitution T C intron_variant PACA-CA 2 215617536 215617536 single base substitution T C upstream_gene_variant PACA-CA 2 215618223 215618223 single base substitution C T intron_variant PACA-CA 2 215618223 215618223 single base substitution C T upstream_gene_variant PACA-CA 2 215619004 215619004 single base substitution A T intron_variant PACA-CA 2 215619004 215619004 single base substitution A T upstream_gene_variant PACA-CA 2 215625644 215625644 single base substitution G A intron_variant PACA-CA 2 215629050 215629050 single base substitution G A intron_variant PACA-CA 2 215634103 215634103 single base substitution T A intron_variant PACA-CA 2 215636427 215636427 single base substitution G C intron_variant PACA-CA 2 215639754 215639754 single base substitution G A intron_variant PACA-CA 2 215640697 215640697 single base substitution A T downstream_gene_variant PACA-CA 2 215640697 215640697 single base substitution A T intron_variant PACA-CA 2 215641224 215641224 single base substitution C G downstream_gene_variant PACA-CA 2 215641224 215641224 single base substitution C G intron_variant PACA-CA 2 215645863 215645863 single base substitution T C 3_prime_UTR_variant PACA-CA 2 215645863 215645863 single base substitution T C exon_variant PACA-CA 2 215645863 215645863 single base substitution T C intron_variant PACA-CA 2 215645863 215645863 single base substitution T C synonymous_variant Q101Q 303A>G PACA-CA 2 215645863 215645863 single base substitution T C synonymous_variant Q245Q 735A>G PACA-CA 2 215649049 215649049 single base substitution G C intron_variant PACA-CA 2 215649481 215649481 single base substitution T A intron_variant PACA-CA 2 215652291 215652291 single base substitution C A intron_variant PACA-CA 2 215653846 215653846 single base substitution G A intron_variant PACA-CA 2 215654475 215654475 single base substitution A G intron_variant PACA-CA 2 215657464 215657464 single base substitution G T downstream_gene_variant PACA-CA 2 215657464 215657464 single base substitution G T intron_variant PACA-CA 2 215660410 215660410 single base substitution G T downstream_gene_variant PACA-CA 2 215660410 215660410 single base substitution G T intron_variant PACA-CA 2 215661517 215661517 single base substitution A G downstream_gene_variant PACA-CA 2 215661517 215661517 single base substitution A G intron_variant PACA-CA 2 215664062 215664062 single base substitution T A intron_variant PACA-CA 2 215664676 215664676 single base substitution A G intron_variant PACA-CA 2 215665289 215665289 single base substitution T A intron_variant PACA-CA 2 215665797 215665797 insertion of <=200bp - T intron_variant PACA-CA 2 215666295 215666295 single base substitution C T intron_variant PACA-CA 2 215671877 215671877 single base substitution A G intron_variant PACA-CA 2 215672626 215672629 deletion of <=200bp ATTG - intron_variant PACA-CA 2 215673320 215673320 single base substitution C T intron_variant PACA-CA 2 215673415 215673415 insertion of <=200bp - A intron_variant PACA-CA 2 215674413 215674413 single base substitution G C 5_prime_UTR_variant PACA-CA 2 215674413 215674413 single base substitution G C upstream_gene_variant PACA-CA 2 215674441 215674441 deletion of <=200bp G - upstream_gene_variant PACA-CA 2 215678864 215678864 single base substitution T C upstream_gene_variant PACA-CA 2 215679173 215679173 single base substitution C T upstream_gene_variant PAEN-AU 2 215588709 215588709 insertion of <=200bp - GTGTGT downstream_gene_variant PAEN-AU 2 215591517 215591517 single base substitution C T 3_prime_UTR_variant PAEN-AU 2 215591517 215591517 single base substitution C T downstream_gene_variant PAEN-AU 2 215618162 215618162 single base substitution T C intron_variant PAEN-AU 2 215618162 215618162 single base substitution T C upstream_gene_variant PAEN-AU 2 215622176 215622176 single base substitution G T intron_variant PAEN-AU 2 215622176 215622176 single base substitution G T upstream_gene_variant PAEN-AU 2 215634080 215634080 single base substitution G C intron_variant PAEN-AU 2 215657120 215657120 single base substitution G C downstream_gene_variant PAEN-AU 2 215657120 215657120 single base substitution G C intron_variant PAEN-AU 2 215657120 215657120 single base substitution G C missense_variant P89A 265C>G PAEN-IT 2 215592866 215592866 single base substitution T C 3_prime_UTR_variant PAEN-IT 2 215592866 215592866 single base substitution T C downstream_gene_variant PAEN-IT 2 215622559 215622559 single base substitution G T intron_variant PAEN-IT 2 215644749 215644749 single base substitution C T downstream_gene_variant PAEN-IT 2 215644749 215644749 single base substitution C T intron_variant PAEN-IT 2 215667371 215667371 single base substitution C T intron_variant PBCA-DE 2 215597770 215597770 single base substitution C T intron_variant PBCA-DE 2 215597770 215597770 single base substitution C T upstream_gene_variant PBCA-DE 2 215602557 215602557 single base substitution A G intron_variant PBCA-DE 2 215603424 215603424 single base substitution A T intron_variant PBCA-DE 2 215603922 215603922 deletion of <=200bp C - intron_variant PBCA-DE 2 215603968 215603968 insertion of <=200bp - A intron_variant PBCA-DE 2 215631655 215631655 single base substitution G A intron_variant PBCA-DE 2 215631928 215631928 deletion of <=200bp T - intron_variant PBCA-DE 2 215636066 215636066 single base substitution A G intron_variant PBCA-DE 2 215663130 215663130 single base substitution C A intron_variant PRAD-CA 2 215600989 215600989 single base substitution G A intron_variant PRAD-CA 2 215609018 215609018 single base substitution G A downstream_gene_variant PRAD-CA 2 215609018 215609018 single base substitution G A intron_variant PRAD-CA 2 215614732 215614732 single base substitution G C intron_variant PRAD-CA 2 215633195 215633195 single base substitution T C intron_variant PRAD-CA 2 215651051 215651051 single base substitution C T intron_variant PRAD-CA 2 215653375 215653375 single base substitution T G intron_variant PRAD-UK 2 215591612 215591612 single base substitution T C 3_prime_UTR_variant PRAD-UK 2 215591612 215591612 single base substitution T C downstream_gene_variant PRAD-UK 2 215605627 215605627 deletion of <=200bp T - downstream_gene_variant PRAD-UK 2 215605627 215605627 deletion of <=200bp T - intron_variant PRAD-UK 2 215616826 215616826 single base substitution T C intron_variant PRAD-UK 2 215627677 215627677 deletion of <=200bp A - intron_variant PRAD-UK 2 215642133 215642133 single base substitution C A downstream_gene_variant PRAD-UK 2 215642133 215642133 single base substitution C A intron_variant PRAD-UK 2 215648293 215648293 single base substitution G A intron_variant PRAD-UK 2 215656737 215656752 deletion of <=200bp TCATTTCTCAAAATGA - downstream_gene_variant PRAD-UK 2 215656737 215656752 deletion of <=200bp TCATTTCTCAAAATGA - intron_variant PRAD-UK 2 215665963 215665963 single base substitution C T intron_variant PRAD-UK 2 215673992 215673992 single base substitution C T intron_variant PRAD-UK 2 215677783 215677783 single base substitution T C upstream_gene_variant PRAD-US 2 215645757 215645757 single base substitution G A 3_prime_UTR_variant PRAD-US 2 215645757 215645757 single base substitution G A exon_variant PRAD-US 2 215645757 215645757 single base substitution G A intron_variant PRAD-US 2 215645757 215645757 single base substitution G A missense_variant P137S 409C>T PRAD-US 2 215645757 215645757 single base substitution G A missense_variant P281S 841C>T PRAD-US 2 215645851 215645851 single base substitution G A 3_prime_UTR_variant PRAD-US 2 215645851 215645851 single base substitution G A exon_variant PRAD-US 2 215645851 215645851 single base substitution G A intron_variant PRAD-US 2 215645851 215645851 single base substitution G A synonymous_variant I105I 315C>T PRAD-US 2 215645851 215645851 single base substitution G A synonymous_variant I249I 747C>T RECA-EU 2 215592361 215592361 single base substitution C A 3_prime_UTR_variant RECA-EU 2 215592361 215592361 single base substitution C A downstream_gene_variant RECA-EU 2 215611304 215611304 single base substitution C A intron_variant RECA-EU 2 215624178 215624178 single base substitution C A intron_variant RECA-EU 2 215629465 215629465 single base substitution T A intron_variant RECA-EU 2 215642255 215642255 single base substitution C T downstream_gene_variant RECA-EU 2 215642255 215642255 single base substitution C T intron_variant RECA-EU 2 215645999 215645999 single base substitution G A 3_prime_UTR_variant RECA-EU 2 215645999 215645999 single base substitution G A exon_variant RECA-EU 2 215645999 215645999 single base substitution G A intron_variant RECA-EU 2 215645999 215645999 single base substitution G A missense_variant A200V 599C>T RECA-EU 2 215645999 215645999 single base substitution G A missense_variant A56V 167C>T RECA-EU 2 215649311 215649311 single base substitution T A intron_variant RECA-EU 2 215649894 215649894 single base substitution A G intron_variant RECA-EU 2 215677821 215677821 single base substitution C T upstream_gene_variant SKCA-BR 2 215585645 215585645 single base substitution G A downstream_gene_variant SKCA-BR 2 215586569 215586569 single base substitution C T downstream_gene_variant SKCA-BR 2 215588232 215588232 single base substitution T A downstream_gene_variant SKCA-BR 2 215589597 215589597 single base substitution G A downstream_gene_variant SKCA-BR 2 215591175 215591175 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 215591175 215591175 single base substitution G A downstream_gene_variant SKCA-BR 2 215592978 215592978 single base substitution T A 3_prime_UTR_variant SKCA-BR 2 215592978 215592978 single base substitution T A downstream_gene_variant SKCA-BR 2 215598302 215598302 single base substitution C T intron_variant SKCA-BR 2 215598302 215598302 single base substitution C T upstream_gene_variant SKCA-BR 2 215599168 215599168 single base substitution T C intron_variant SKCA-BR 2 215599168 215599168 single base substitution T C upstream_gene_variant SKCA-BR 2 215599443 215599443 single base substitution G A intron_variant SKCA-BR 2 215599443 215599443 single base substitution G A upstream_gene_variant SKCA-BR 2 215608280 215608280 single base substitution G A downstream_gene_variant SKCA-BR 2 215608280 215608280 single base substitution G A intron_variant SKCA-BR 2 215608968 215608968 single base substitution A T downstream_gene_variant SKCA-BR 2 215608968 215608968 single base substitution A T intron_variant SKCA-BR 2 215609221 215609221 single base substitution A C downstream_gene_variant SKCA-BR 2 215609221 215609221 single base substitution A C intron_variant SKCA-BR 2 215609340 215609340 single base substitution A T downstream_gene_variant SKCA-BR 2 215609340 215609340 single base substitution A T intron_variant SKCA-BR 2 215609625 215609625 single base substitution G A downstream_gene_variant SKCA-BR 2 215609625 215609625 single base substitution G A intron_variant SKCA-BR 2 215613380 215613380 single base substitution A C intron_variant SKCA-BR 2 215613426 215613426 single base substitution G A intron_variant SKCA-BR 2 215613453 215613453 single base substitution G A intron_variant SKCA-BR 2 215621301 215621301 single base substitution C T intron_variant SKCA-BR 2 215621301 215621301 single base substitution C T upstream_gene_variant SKCA-BR 2 215624043 215624043 single base substitution T C intron_variant SKCA-BR 2 215625437 215625437 single base substitution C G intron_variant SKCA-BR 2 215625503 215625503 insertion of <=200bp - CT intron_variant SKCA-BR 2 215625749 215625749 single base substitution T C intron_variant SKCA-BR 2 215627243 215627243 single base substitution A C intron_variant SKCA-BR 2 215629394 215629394 single base substitution G A intron_variant SKCA-BR 2 215630332 215630332 single base substitution G A intron_variant SKCA-BR 2 215631797 215631797 single base substitution G A intron_variant SKCA-BR 2 215632360 215632360 single base substitution C G 3_prime_UTR_variant SKCA-BR 2 215632360 215632360 single base substitution C G intron_variant SKCA-BR 2 215632360 215632360 single base substitution C G missense_variant G328R 982G>C SKCA-BR 2 215632360 215632360 single base substitution C G missense_variant G472R 1414G>C SKCA-BR 2 215636667 215636667 insertion of <=200bp - AAAAAAAG intron_variant SKCA-BR 2 215642906 215642906 single base substitution C A downstream_gene_variant SKCA-BR 2 215642906 215642906 single base substitution C A intron_variant SKCA-BR 2 215648046 215648046 single base substitution G A intron_variant SKCA-BR 2 215648047 215648047 single base substitution G A intron_variant SKCA-BR 2 215656168 215656168 single base substitution C G intron_variant SKCA-BR 2 215657008 215657008 single base substitution G A downstream_gene_variant SKCA-BR 2 215657008 215657008 single base substitution G A intron_variant SKCA-BR 2 215658608 215658608 single base substitution G A downstream_gene_variant SKCA-BR 2 215658608 215658608 single base substitution G A intron_variant SKCA-BR 2 215663496 215663498 deletion of <=200bp GAA - intron_variant SKCA-BR 2 215664276 215664276 single base substitution G A intron_variant SKCA-BR 2 215668471 215668471 single base substitution T C intron_variant SKCA-BR 2 215671599 215671599 insertion of <=200bp - GAAA intron_variant SKCA-BR 2 215677696 215677697 deletion of <=200bp AC - upstream_gene_variant SKCA-BR 2 215677699 215677699 single base substitution C A upstream_gene_variant SKCA-BR 2 215678086 215678086 insertion of <=200bp - GT upstream_gene_variant SKCM-US 2 215645294 215645294 single base substitution G A 3_prime_UTR_variant SKCM-US 2 215645294 215645294 single base substitution G A downstream_gene_variant SKCM-US 2 215645294 215645294 single base substitution G A intron_variant SKCM-US 2 215645294 215645294 single base substitution G A missense_variant A291V 872C>T SKCM-US 2 215645294 215645294 single base substitution G A missense_variant A435V 1304C>T SKCM-US 2 215674232 215674232 single base substitution C A 5_prime_UTR_variant SKCM-US 2 215674232 215674232 single base substitution C A exon_variant SKCM-US 2 215674232 215674232 single base substitution C A missense_variant R21L 62G>T STAD-US 2 215593476 215593476 single base substitution C T 3_prime_UTR_variant STAD-US 2 215593476 215593476 single base substitution C T downstream_gene_variant STAD-US 2 215593476 215593476 single base substitution C T exon_variant STAD-US 2 215593476 215593476 single base substitution C T missense_variant G124D 371G>A STAD-US 2 215593476 215593476 single base substitution C T missense_variant G753D 2258G>A STAD-US 2 215593504 215593504 single base substitution T C 3_prime_UTR_variant STAD-US 2 215593504 215593504 single base substitution T C downstream_gene_variant STAD-US 2 215593504 215593504 single base substitution T C exon_variant STAD-US 2 215593504 215593504 single base substitution T C missense_variant N115D 343A>G STAD-US 2 215593504 215593504 single base substitution T C missense_variant N744D 2230A>G STAD-US 2 215593615 215593615 single base substitution G A 3_prime_UTR_variant STAD-US 2 215593615 215593615 single base substitution G A downstream_gene_variant STAD-US 2 215593615 215593615 single base substitution G A exon_variant STAD-US 2 215593615 215593615 single base substitution G A missense_variant P707S 2119C>T STAD-US 2 215593615 215593615 single base substitution G A missense_variant P78S 232C>T STAD-US 2 215593615 215593615 single base substitution G A synonymous_variant S561S 1683C>T STAD-US 2 215593709 215593709 single base substitution G A 3_prime_UTR_variant STAD-US 2 215593709 215593709 single base substitution G A downstream_gene_variant STAD-US 2 215593709 215593709 single base substitution G A exon_variant STAD-US 2 215593709 215593709 single base substitution G A missense_variant A530V 1589C>T STAD-US 2 215593709 215593709 single base substitution G A synonymous_variant C46C 138C>T STAD-US 2 215593709 215593709 single base substitution G A synonymous_variant C675C 2025C>T STAD-US 2 215632335 215632335 single base substitution A G 3_prime_UTR_variant STAD-US 2 215632335 215632335 single base substitution A G intron_variant STAD-US 2 215632335 215632335 single base substitution A G missense_variant L336S 1007T>C STAD-US 2 215632335 215632335 single base substitution A G missense_variant L480S 1439T>C STAD-US 2 215645475 215645475 single base substitution T C 3_prime_UTR_variant STAD-US 2 215645475 215645475 single base substitution T C downstream_gene_variant STAD-US 2 215645475 215645475 single base substitution T C intron_variant STAD-US 2 215645475 215645475 single base substitution T C missense_variant T231A 691A>G STAD-US 2 215645475 215645475 single base substitution T C missense_variant T375A 1123A>G STAD-US 2 215645635 215645635 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 2 215645635 215645635 deletion of <=200bp T - exon_variant STAD-US 2 215645635 215645635 deletion of <=200bp T - frameshift_variant K177 STAD-US 2 215645635 215645635 deletion of <=200bp T - frameshift_variant K321 STAD-US 2 215645635 215645635 deletion of <=200bp T - intron_variant STAD-US 2 215645975 215645975 insertion of <=200bp - T 3_prime_UTR_variant STAD-US 2 215645975 215645975 insertion of <=200bp - T exon_variant STAD-US 2 215645975 215645975 insertion of <=200bp - T frameshift_variant K208K? STAD-US 2 215645975 215645975 insertion of <=200bp - T frameshift_variant K64K? STAD-US 2 215645975 215645975 insertion of <=200bp - T intron_variant STAD-US 2 215646008 215646008 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 2 215646008 215646008 deletion of <=200bp T - exon_variant STAD-US 2 215646008 215646008 deletion of <=200bp T - frameshift_variant K197 STAD-US 2 215646008 215646008 deletion of <=200bp T - frameshift_variant K53 STAD-US 2 215646008 215646008 deletion of <=200bp T - intron_variant STAD-US 2 215646085 215646085 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 2 215646085 215646085 deletion of <=200bp T - exon_variant STAD-US 2 215646085 215646085 deletion of <=200bp T - frameshift_variant K171 STAD-US 2 215646085 215646085 deletion of <=200bp T - frameshift_variant K27 STAD-US 2 215646085 215646085 deletion of <=200bp T - intron_variant STAD-US 2 215646142 215646142 single base substitution C T 3_prime_UTR_variant STAD-US 2 215646142 215646142 single base substitution C T exon_variant STAD-US 2 215646142 215646142 single base substitution C T intron_variant STAD-US 2 215646142 215646142 single base substitution C T synonymous_variant K152K 456G>A STAD-US 2 215646142 215646142 single base substitution C T synonymous_variant K8K 24G>A THCA-SA 2 215645545 215645545 single base substitution C G 3_prime_UTR_variant THCA-SA 2 215645545 215645545 single base substitution C G downstream_gene_variant THCA-SA 2 215645545 215645545 single base substitution C G intron_variant THCA-SA 2 215645545 215645545 single base substitution C G synonymous_variant T207T 621G>C THCA-SA 2 215645545 215645545 single base substitution C G synonymous_variant T351T 1053G>C UCEC-US 2 215593652 215593652 single base substitution G A 3_prime_UTR_variant UCEC-US 2 215593652 215593652 single base substitution G A downstream_gene_variant UCEC-US 2 215593652 215593652 single base substitution G A exon_variant UCEC-US 2 215593652 215593652 single base substitution G A missense_variant S549L 1646C>T UCEC-US 2 215593652 215593652 single base substitution G A synonymous_variant L65L 195C>T UCEC-US 2 215593652 215593652 single base substitution G A synonymous_variant L694L 2082C>T UCEC-US 2 215595214 215595214 single base substitution C T 3_prime_UTR_variant UCEC-US 2 215595214 215595214 single base substitution C T exon_variant UCEC-US 2 215595214 215595214 single base substitution C T missense_variant R12Q 35G>A UCEC-US 2 215595214 215595214 single base substitution C T missense_variant R190Q 569G>A UCEC-US 2 215595214 215595214 single base substitution C T missense_variant R497Q 1490G>A UCEC-US 2 215595214 215595214 single base substitution C T missense_variant R641Q 1922G>A UCEC-US 2 215609821 215609821 single base substitution G T 3_prime_UTR_variant UCEC-US 2 215609821 215609821 single base substitution G T downstream_gene_variant UCEC-US 2 215609821 215609821 single base substitution G T missense_variant L174I 520C>A UCEC-US 2 215609821 215609821 single base substitution G T missense_variant L481I 1441C>A UCEC-US 2 215609821 215609821 single base substitution G T missense_variant L625I 1873C>A UCEC-US 2 215610465 215610465 single base substitution A G 3_prime_UTR_variant UCEC-US 2 215610465 215610465 single base substitution A G exon_variant UCEC-US 2 215610465 215610465 single base substitution A G synonymous_variant Y146Y 438T>C UCEC-US 2 215610465 215610465 single base substitution A G synonymous_variant Y453Y 1359T>C UCEC-US 2 215610465 215610465 single base substitution A G synonymous_variant Y597Y 1791T>C UCEC-US 2 215634034 215634034 single base substitution G A intron_variant UCEC-US 2 215634034 215634034 single base substitution G A splice_region_variant UCEC-US 2 215645381 215645381 single base substitution C T 3_prime_UTR_variant UCEC-US 2 215645381 215645381 single base substitution C T downstream_gene_variant UCEC-US 2 215645381 215645381 single base substitution C T intron_variant UCEC-US 2 215645381 215645381 single base substitution C T missense_variant R262Q 785G>A UCEC-US 2 215645381 215645381 single base substitution C T missense_variant R406Q 1217G>A UCEC-US 2 215645705 215645705 single base substitution A G 3_prime_UTR_variant UCEC-US 2 215645705 215645705 single base substitution A G exon_variant UCEC-US 2 215645705 215645705 single base substitution A G intron_variant UCEC-US 2 215645705 215645705 single base substitution A G missense_variant V154A 461T>C UCEC-US 2 215645705 215645705 single base substitution A G missense_variant V298A 893T>C UCEC-US 2 215645882 215645882 single base substitution A C 3_prime_UTR_variant UCEC-US 2 215645882 215645882 single base substitution A C exon_variant UCEC-US 2 215645882 215645882 single base substitution A C intron_variant UCEC-US 2 215645882 215645882 single base substitution A C missense_variant L239R 716T>G UCEC-US 2 215645882 215645882 single base substitution A C missense_variant L95R 284T>G UCEC-US 2 215646030 215646030 single base substitution C A 3_prime_UTR_variant UCEC-US 2 215646030 215646030 single base substitution C A exon_variant UCEC-US 2 215646030 215646030 single base substitution C A intron_variant UCEC-US 2 215646030 215646030 single base substitution C A missense_variant D190Y 568G>T UCEC-US 2 215646030 215646030 single base substitution C A missense_variant D46Y 136G>T UCEC-US 2 215646108 215646108 single base substitution G A 3_prime_UTR_variant UCEC-US 2 215646108 215646108 single base substitution G A exon_variant UCEC-US 2 215646108 215646108 single base substitution G A intron_variant UCEC-US 2 215646108 215646108 single base substitution G A stop_gained Q164* 490C>T UCEC-US 2 215646108 215646108 single base substitution G A stop_gained Q20* 58C>T UCEC-US 2 215646173 215646173 single base substitution G T 3_prime_UTR_variant UCEC-US 2 215646173 215646173 single base substitution G T 5_prime_UTR_variant UCEC-US 2 215646173 215646173 single base substitution G T exon_variant UCEC-US 2 215646173 215646173 single base substitution G T intron_variant UCEC-US 2 215646173 215646173 single base substitution G T stop_gained S142* 425C>A UCEC-US 2 215646178 215646178 single base substitution C A 3_prime_UTR_variant UCEC-US 2 215646178 215646178 single base substitution C A 5_prime_UTR_variant UCEC-US 2 215646178 215646178 single base substitution C A exon_variant UCEC-US 2 215646178 215646178 single base substitution C A intron_variant UCEC-US 2 215646178 215646178 single base substitution C A missense_variant K140N 420G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-4280-01 COSM4090999 c.1123A>G p.T375A Substitution - Missense 2:214780751-214780751 - TCGA-12-0692 COSM2154271 c.1837delG p.A613fs*6 Deletion - Frameshift 2:214745133-214745133 - TCGA-AP-A051-01 COSM1591868 c.490C>T p.Q164* Substitution - Nonsense 2:214781384-214781384 - SM-4B295 COSM5032476 c.1545C>A p.S515S Substitution - coding silent 2:214767505-214767505 - TCGA-EE-A29V-06 COSM3577419 c.1304C>T p.A435V Substitution - Missense 2:214780570-214780570 - 159 COSM145130 c.484T>G p.S162A Substitution - Missense 2:214781390-214781390 - 2521260 COSM5891319 c.2287T>G p.F763V Substitution - Missense 2:214728723-214728723 - TCGA-BR-4361-01 COSM4090996 c.1439T>C p.L480S Substitution - Missense 2:214767611-214767611 - KPOPBR-40-T COSM5965976 c.215+8A>C p.? Unknown 2:214797053-214797053 - TCGA-AG-3892-01 COSM256387 c.420G>T p.K140N Substitution - Missense 2:214781454-214781454 - TCGA-BR-8059-01 COSM4090988 c.2258G>A p.G753D Substitution - Missense 2:214728752-214728752 - TCGA-AP-A059-01 COSM1016071 c.716T>G p.L239R Substitution - Missense 2:214781158-214781158 - TCGA-FD-A3B6-01 COSM1306399 c.1816C>G p.H606D Substitution - Missense 2:214745154-214745154 - PT08_1 COSM5892695 c.1960C>T p.P654S Substitution - Missense 2:214730452-214730452 - TCGA-EJ-5519-01 COSM4876228 c.747C>T p.I249I Substitution - coding silent 2:214781127-214781127 - UM-SCC-47 COSM4600029 c.692C>G p.S231C Substitution - Missense 2:214781182-214781182 - TCGA-AP-A056-01 COSM256387 c.420G>T p.K140N Substitution - Missense 2:214781454-214781454 - PCSI_0227_Pa_P_526 COSM4962337 c.1614T>C p.S538S Substitution - coding silent 2:214752510-214752510 - TCGA-BS-A0UJ-01 COSM1591871 c.893T>C p.V298A Substitution - Missense 2:214780981-214780981 - TCGA-C5-A1BQ-01 COSM4795046 c.802G>A p.E268K Substitution - Missense 2:214781072-214781072 - TCGA-EJ-5519-01 COSM1129335 c.747C>T p.I249I Substitution - coding silent 2:214781127-214781127 - TCGA-60-2698-01 COSM1148991 c.1980C>G p.S660R Substitution - Missense 2:214730432-214730432 - TCGA-EK-A3GM-01 COSM4823337 c.664G>T p.A222S Substitution - Missense 2:214781210-214781210 - TCGA-AM-5821-01 COSM442275 c.70C>T p.P24S Substitution - Missense 2:214809500-214809500 - Pat_26_A COSM5861699 c.1357G>A p.D453N Substitution - Missense 2:214769270-214769270 - S00936 COSM309429 c.1317C>T p.G439G Substitution - coding silent 2:214769310-214769310 - TCGA-22-1012-01 COSM1148996 c.1232C>A p.P411H Substitution - Missense 2:214780642-214780642 - TCGA-AP-A0LM-01 COSM1591875 c.1922G>A p.R641Q Substitution - Missense 2:214730490-214730490 - C086 COSM5527252 c.1375C>T p.H459Y Substitution - Missense 2:214769252-214769252 - TCGA-21-1070-01 COSM720081 c.1237G>A p.A413T Substitution - Missense 2:214780637-214780637 - TCGA-BR-4280-01 COSM4090998 c.1123A>G p.T375A Substitution - Missense 2:214780751-214780751 - HCC106T COSM1614313 c.589A>T p.K197* Substitution - Nonsense 2:214781285-214781285 - OSCC-GB_01060111 COSM4882491 c.2321C>T p.P774L Substitution - Missense 2:214728689-214728689 - TCGA-D1-A177-01 COSM1016065 c.1791T>C p.Y597Y Substitution - coding silent 2:214745741-214745741 - TCGA-12-0692 COSM2154272 c.1837delG p.A613fs*6 Deletion - Frameshift 2:214745133-214745133 - ESCC_152 COSM2716868 c.1075T>C p.L359L Substitution - coding silent 2:214780799-214780799 - LUAD-B02216 COSM335613 c.1217G>T p.R406L Substitution - Missense 2:214780657-214780657 - CHC1052T COSM250848 c.1995A>T p.E665D Substitution - Missense 2:214730417-214730417 - C086 COSM5527253 c.1375C>T p.H459Y Substitution - Missense 2:214769252-214769252 - PT08_2 COSM5892694 c.1960C>T p.P654S Substitution - Missense 2:214730452-214730452 - SNUH_G45_S1 COSM3757930 c.1519G>A p.V507M Substitution - Missense 2:214767531-214767531 - CHC1052T COSM250848 c.1995A>T p.E665D Substitution - Missense 2:214730417-214730417 - 8051712 COSM3768942 c.265C>G p.P89A Substitution - Missense 2:214792396-214792396 - ESCC_152 COSM2716869 c.1075T>C p.L359L Substitution - coding silent 2:214780799-214780799 - 1517_CLM COSM5755978 c.1676T>C p.V559A Substitution - Missense 2:214752448-214752448 - 12-P616 COSM2716894 c.709C>G p.Q237E Substitution - Missense 2:214781165-214781165 - 587222 COSM1184437 c.158+1G>A p.? Unknown 2:214809411-214809411 - ASHPC_0006_Pa_P COSM3782112 c.1788A>G p.K596K Substitution - coding silent 2:214745744-214745744 - CSCC-10-T COSM4482984 c.265C>T p.P89S Substitution - Missense 2:214792396-214792396 - 159-01-1TD COSM1317083 c.484T>G p.S162A Substitution - Missense 2:214781390-214781390 - pfg116T COSM4764557 c.245G>T p.G82V Substitution - Missense 2:214792416-214792416 - T2269 COSM4665187 c.334C>T p.R112* Substitution - Nonsense 2:214792327-214792327 - TCGA-AA-3812-01 COSM270687 c.2039G>A p.W680* Substitution - Nonsense 2:214728971-214728971 - TCGA-FC-7961-01 COSM3673597 c.841C>T p.P281S Substitution - Missense 2:214781033-214781033 - CHC892T COSM4795045 c.802G>A p.E268K Substitution - Missense 2:214781072-214781072 - T98G COSM2716849 c.1568T>C p.V523A Substitution - Missense 2:214767482-214767482 - TCGA-FC-7961-01 COSM3673598 c.841C>T p.P281S Substitution - Missense 2:214781033-214781033 - C086 COSM5527255 c.1374C>T p.D458D Substitution - coding silent 2:214769253-214769253 - HCC30T COSM1614310 c.1139A>C p.N380T Substitution - Missense 2:214780735-214780735 - LUAD-5V8LT COSM402165 c.521G>T p.S174I Substitution - Missense 2:214781353-214781353 - ESCC_150 COSM5645005 c.2279C>T p.S760L Substitution - Missense 2:214728731-214728731 - TCGA-BR-4357-01 COSM4090994 c.2025C>T p.C675C Substitution - coding silent 2:214728985-214728985 - P03-1906 COSM243168 c.1366G>A p.V456I Substitution - Missense 2:214769261-214769261 - TCGA-EE-A3JI-06 COSM3577420 c.62G>T p.R21L Substitution - Missense 2:214809508-214809508 - pfg424T COSM4764554 c.1373A>T p.D458V Substitution - Missense 2:214769254-214769254 - PT08_1 COSM5892697 c.1265T>G p.V422G Substitution - Missense 2:214780609-214780609 - ESCC_152 COSM4309423 c.1091C>T p.S364L Substitution - Missense 2:214780783-214780783 - pfg024T COSM1641824 c.1568+10T>G p.? Unknown 2:214767472-214767472 - NB2161 COSM5702946 c.992C>G p.P331R Substitution - Missense 2:214780882-214780882 - TCGA-CA-6717-01 COSM1405222 c.914A>C p.K305T Substitution - Missense 2:214780960-214780960 - TCGA-AM-5821-01 COSM3757930 c.1519G>A p.V507M Substitution - Missense 2:214767531-214767531 - 16686 COSM48253 c.487G>A p.V163M Substitution - Missense 2:214781387-214781387 - PR-09-5702 COSM243167 c.1995A>G p.E665E Substitution - coding silent 2:214730417-214730417 - PD3989a COSM159329 c.253G>A p.V85M Substitution - Missense 2:214792408-214792408 - SNUH_G16_S1 COSM3757930 c.1519G>A p.V507M Substitution - Missense 2:214767531-214767531 - TCGA-AP-A059-01 COSM1591870 c.716T>G p.L239R Substitution - Missense 2:214781158-214781158 - HCT15 COSM1669729 c.2170G>A p.A724T Substitution - Missense 2:214728840-214728840 - TCGA-GV-A3JZ-01 COSM1306401 c.605C>G p.S202C Substitution - Missense 2:214781269-214781269 - TCGA-EE-A3JI-06 COSM3577421 c.62G>T p.R21L Substitution - Missense 2:214809508-214809508 - TCGA-EP-A3JL-01 COSM4913902 c.452G>A p.S151N Substitution - Missense 2:214781422-214781422 - CHC1052T COSM5348933 c.1995A>T p.E665D Substitution - Missense 2:214730417-214730417 - LUAD-S01405 COSM399095 c.61C>T p.R21C Substitution - Missense 2:214809509-214809509 - 12-P616 COSM2716891 c.738A>G p.P246P Substitution - coding silent 2:214781136-214781136 - SNUH_G45_S1 COSM3757931 c.1134G>C p.R378S Substitution - Missense 2:214780740-214780740 - ASHPC_0006_Pa_P COSM3782111 c.1788A>G p.K596K Substitution - coding silent 2:214745744-214745744 - PCSI_0083_Pa_P_526 COSM3782110 c.1972C>T p.R658C Substitution - Missense 2:214730440-214730440 - ESO-H01 COSM1245950 c.623_624insA p.K209fs*5 Insertion - Frameshift 2:214781250-214781251 - TCGA-D1-A103-01 COSM1016059 c.2082C>T p.L694L Substitution - coding silent 2:214728928-214728928 - UM-SCC-47 COSM4600028 c.692C>G p.S231C Substitution - Missense 2:214781182-214781182 - TCGA-60-2698-01 COSM720085 c.1980C>G p.S660R Substitution - Missense 2:214730432-214730432 - PT44 COSM5926329 c.992C>T p.P331L Substitution - Missense 2:214780882-214780882 - 8051712 COSM3768941 c.265C>G p.P89A Substitution - Missense 2:214792396-214792396 - 585270 COSM324796 c.2021G>T p.G674V Substitution - Missense 2:214728989-214728989 - SNUH_G45_S1 COSM3757932 c.1134G>C p.R378S Substitution - Missense 2:214780740-214780740 - ESO-0015 COSM1245952 c.523G>C p.A175P Substitution - Missense 2:214781351-214781351 - A549 COSM1683894 c.1071_1091del21 p.L359_P365delLPECSSP Deletion - In frame 2:214780783-214780803 - ESO-838 COSM1245957 c.1165A>C p.S389R Substitution - Missense 2:214780709-214780709 - CHC892T COSM4795046 c.802G>A p.E268K Substitution - Missense 2:214781072-214781072 - 12-P616 COSM2716895 c.709C>G p.Q237E Substitution - Missense 2:214781165-214781165 - NCI-H23 COSM1196324 c.502G>A p.A168T Substitution - Missense 2:214781372-214781372 - TCGA-B5-A11E-01 COSM1016063 c.1873C>A p.L625I Substitution - Missense 2:214745097-214745097 - PT46 COSM5928243 c.551C>T p.S184F Substitution - Missense 2:214781323-214781323 - TCGA-AD-6895-01 COSM1405223 c.623delA p.K208fs*4 Deletion - Frameshift 2:214781251-214781251 - DM2 COSM5607933 c.554C>T p.P185L Substitution - Missense 2:214781320-214781320 - 159-01-1TD COSM145130 c.484T>G p.S162A Substitution - Missense 2:214781390-214781390 - NCI-H23 COSM1196323 c.502G>A p.A168T Substitution - Missense 2:214781372-214781372 - TCGA-AD-6895-01 COSM1405224 c.623delA p.K208fs*4 Deletion - Frameshift 2:214781251-214781251 - TCGA-AX-A05Z-01 COSM1591867 c.425C>A p.S142* Substitution - Nonsense 2:214781449-214781449 - TCGA-HU-A4HD-01 COSM4090993 c.2119C>T p.P707S Substitution - Missense 2:214728891-214728891 - Au3 COSM5601085 c.1411C>T p.H471Y Substitution - Missense 2:214767639-214767639 - SNUH_G16_S1 COSM3757929 c.1519G>A p.V507M Substitution - Missense 2:214767531-214767531 - TCGA-AP-A059-01 COSM1016073 c.568G>T p.D190Y Substitution - Missense 2:214781306-214781306 - ESCC_152 COSM4309422 c.1091C>T p.S364L Substitution - Missense 2:214780783-214780783 - PT08_1 COSM5892696 c.1265T>G p.V422G Substitution - Missense 2:214780609-214780609 - PT24_1 COSM5904143 c.1970C>T p.P657L Substitution - Missense 2:214730442-214730442 - PT46 COSM5928244 c.551C>T p.S184F Substitution - Missense 2:214781323-214781323 - ESO-1748 COSM1245955 c.2001G>T p.L667L Substitution - coding silent 2:214730411-214730411 - TCGA-BP-4766-01 COSM3364564 c.1949A>C p.K650T Substitution - Missense 2:214730463-214730463 - TCGA-EK-A3GM-01 COSM4823338 c.664G>T p.A222S Substitution - Missense 2:214781210-214781210 - HCC132T COSM1614309 c.2074A>T p.I692F Substitution - Missense 2:214728936-214728936 - 8068548 COSM3768940 c.1415G>A p.G472E Substitution - Missense 2:214767635-214767635 - TCGA-EP-A3JL-01 COSM4913903 c.452G>A p.S151N Substitution - Missense 2:214781422-214781422 - T3255 COSM4665181 c.2224T>G p.L742V Substitution - Missense 2:214728786-214728786 - PT08_2 COSM5892695 c.1960C>T p.P654S Substitution - Missense 2:214730452-214730452 - TCGA-56-6546-01 COSM1148997 c.1032T>G p.S344R Substitution - Missense 2:214780842-214780842 - 8051712 COSM3768941 c.265C>G p.P89A Substitution - Missense 2:214792396-214792396 - H23 COSM1196323 c.502G>A p.A168T Substitution - Missense 2:214781372-214781372 - HCT-15 COSM1669729 c.2170G>A p.A724T Substitution - Missense 2:214728840-214728840 - T1184 COSM4665184 c.989G>T p.S330I Substitution - Missense 2:214780885-214780885 - ESO-1748 COSM1245956 c.2001G>T p.L667L Substitution - coding silent 2:214730411-214730411 - CRC-06T COSM5456921 c.2171C>T p.A724V Substitution - Missense 2:214728839-214728839 - SNUH_G10_S1 COSM3757934 c.1053G>C p.T351T Substitution - coding silent 2:214780821-214780821 - CHC892T COSM4795045 c.802G>A p.E268K Substitution - Missense 2:214781072-214781072 - Pat_26_A COSM5861700 c.1357G>A p.D453N Substitution - Missense 2:214769270-214769270 - NB2161 COSM5702947 c.992C>G p.P331R Substitution - Missense 2:214780882-214780882 - T98G COSM2716848 c.1568T>C p.V523A Substitution - Missense 2:214767482-214767482 - 12-P616 COSM2716890 c.738A>G p.P246P Substitution - coding silent 2:214781136-214781136 - TCGA-AA-3672-01 COSM266081 c.547G>C p.V183L Substitution - Missense 2:214781327-214781327 - TCGA-AX-A0J1-01 COSM309429 c.1317C>T p.G439G Substitution - coding silent 2:214769310-214769310 - TCGA-PD-A5DF-01 COSM4909761 c.1589C>T p.P530L Substitution - Missense 2:214752535-214752535 - SM-4B295 COSM5032475 c.1545C>A p.S515S Substitution - coding silent 2:214767505-214767505 - LUAD-QCHM7 COSM377218 c.1543T>G p.S515A Substitution - Missense 2:214767507-214767507 - TCGA-AP-A056-01 COSM1591866 c.420G>T p.K140N Substitution - Missense 2:214781454-214781454 - RK308_C01 COSM3743581 c.6G>A p.P2P Substitution - coding silent 2:214809564-214809564 - C086 COSM5527254 c.1374C>T p.D458D Substitution - coding silent 2:214769253-214769253 - HCC106T COSM1614312 c.589A>T p.K197* Substitution - Nonsense 2:214781285-214781285 - Pat_41_B COSM5861701 c.79G>A p.E27K Substitution - Missense 2:214809491-214809491 - Pat_41_B COSM5861702 c.79G>A p.E27K Substitution - Missense 2:214809491-214809491 - ESCC_123 COSM4309423 c.1091C>T p.S364L Substitution - Missense 2:214780783-214780783 - TCGA-A8-A06R-01 COSM442274 c.267G>A p.P89P Substitution - coding silent 2:214792394-214792394 - TCGA-AP-A0LM-01 COSM1016061 c.1922G>A p.R641Q Substitution - Missense 2:214730490-214730490 - 2290929 COSM4439856 c.1811-10delT p.? Unknown 2:214745169-214745169 - RMH004-R10 COSM4411217 c.1490C>T p.P497L Substitution - Missense 2:214767560-214767560 - TCGA-AM-5820-01 COSM3757933 c.1053G>C p.T351T Substitution - coding silent 2:214780821-214780821 - TCGA-33-4532-01 COSM1148993 c.1674A>T p.S558S Substitution - coding silent 2:214752450-214752450 - TCGA-22-1012-01 COSM720080 c.1232C>A p.P411H Substitution - Missense 2:214780642-214780642 - 2474087 COSM309429 c.1317C>T p.G439G Substitution - coding silent 2:214769310-214769310 - ME020T COSM225501 c.1466C>T p.T489I Substitution - Missense 2:214767584-214767584 - TCGA-AC-A23H-01 COSM3838529 c.1755C>T p.L585L Substitution - coding silent 2:214745777-214745777 - TCGA-AM-5820-01 COSM3757934 c.1053G>C p.T351T Substitution - coding silent 2:214780821-214780821 - pfg081T COSM4764552 c.2179G>A p.D727N Substitution - Missense 2:214728831-214728831 - ESCC_123 COSM2716866 c.1090T>A p.S364T Substitution - Missense 2:214780784-214780784 - HCT-15 COSM1669728 c.2170G>A p.A724T Substitution - Missense 2:214728840-214728840 - TCGA-DU-6396-01 COSM3972002 c.1721G>A p.G574D Substitution - Missense 2:214745811-214745811 - C0076T COSM4154785 c.599C>T p.A200V Substitution - Missense 2:214781275-214781275 - CPCG0103-P4 COSM3927759 c.846G>T p.L282F Substitution - Missense 2:214781028-214781028 - BD6T COSM2716904 c.513delA p.D172fs*40 Deletion - Frameshift 2:214781361-214781361 - 1N53-VS-1T53 COSM4976904 c.919T>A p.Y307N Substitution - Missense 2:214780955-214780955 - Au3 COSM5601086 c.1411C>T p.H471Y Substitution - Missense 2:214767639-214767639 - 587238 COSM1184439 c.970C>A p.H324N Substitution - Missense 2:214780904-214780904 - TCGA-BR-8059-01 COSM4090989 c.2258G>A p.G753D Substitution - Missense 2:214728752-214728752 - T2269 COSM4665182 c.1242G>T p.M414I Substitution - Missense 2:214780632-214780632 - TCGA-EE-A29V-06 COSM3577418 c.1304C>T p.A435V Substitution - Missense 2:214780570-214780570 - TCGA-HU-A4GQ-01 COSM4090991 c.2230A>G p.N744D Substitution - Missense 2:214728780-214728780 - STC246 COSM5058637 c.1539A>G p.L513L Substitution - coding silent 2:214767511-214767511 - T2269 COSM4665183 c.1242G>T p.M414I Substitution - Missense 2:214780632-214780632 - HOP-62 COSM1669730 c.1886G>A p.W629* Substitution - Nonsense 2:214745084-214745084 - pfg424T COSM4764555 c.1373A>T p.D458V Substitution - Missense 2:214769254-214769254 - BRC20 COSM5025839 c.1741C>A p.Q581K Substitution - Missense 2:214745791-214745791 - 1N31-VS-1T31 COSM4974360 c.2103G>C p.Q701H Substitution - Missense 2:214728907-214728907 - LUAD-F00018 COSM339124 c.1468A>C p.T490P Substitution - Missense 2:214767582-214767582 - HOP-62 COSM1669731 c.1886G>A p.W629* Substitution - Nonsense 2:214745084-214745084 - YUMER COSM1691959 c.1841T>C p.V614A Substitution - Missense 2:214745129-214745129 - PT44 COSM5926330 c.992C>T p.P331L Substitution - Missense 2:214780882-214780882 - TCGA-21-1070-01 COSM1148995 c.1237G>A p.A413T Substitution - Missense 2:214780637-214780637 - 1N31-VS-1T31 COSM4974359 c.2103G>C p.Q701H Substitution - Missense 2:214728907-214728907 - ESCC_150 COSM5645004 c.2279C>T p.S760L Substitution - Missense 2:214728731-214728731 - YUKLAB COSM1691960 c.1339C>T p.L447F Substitution - Missense 2:214769288-214769288 - PD3989a COSM4809378 c.253G>A p.V85M Substitution - Missense 2:214792408-214792408 - BD6T COSM2716905 c.513delA p.D172fs*40 Deletion - Frameshift 2:214781361-214781361 - TCGA-BR-4361-01 COSM4090997 c.1439T>C p.L480S Substitution - Missense 2:214767611-214767611 - ESCC_27 COSM5627225 c.2191C>T p.R731C Substitution - Missense 2:214728819-214728819 - LUAD-F00121 COSM365762 c.1056G>A p.V352V Substitution - coding silent 2:214780818-214780818 - SNUH_G16_S1 COSM3757931 c.1134G>C p.R378S Substitution - Missense 2:214780740-214780740 - 2474088 COSM1591873 c.1317C>T p.G439G Substitution - coding silent 2:214769310-214769310 - 214 COSM4424343 c.1843C>G p.Q615E Substitution - Missense 2:214745127-214745127 - WA33 COSM238943 c.825_829delAACTG p.T276fs*7 Deletion - Frameshift 2:214781045-214781049 - TCGA-CA-6717-01 COSM1405221 c.914A>C p.K305T Substitution - Missense 2:214780960-214780960 - OSCC-GB_01060111 COSM4882490 c.2321C>T p.P774L Substitution - Missense 2:214728689-214728689 - S0023 COSM2716853 c.1399G>A p.E467K Substitution - Missense 2:214767651-214767651 - 16919 COSM48252 c.1805G>T p.S602I Substitution - Missense 2:214745727-214745727 - ESCC_123 COSM2716867 c.1090T>A p.S364T Substitution - Missense 2:214780784-214780784 - TCGA-D1-A103-01 COSM1591876 c.2082C>T p.L694L Substitution - coding silent 2:214728928-214728928 - DM2 COSM5607932 c.554C>T p.P185L Substitution - Missense 2:214781320-214781320 - PT08_1 COSM5892694 c.1960C>T p.P654S Substitution - Missense 2:214730452-214730452 - TCGA-AX-A05Z-01 COSM1016077 c.425C>A p.S142* Substitution - Nonsense 2:214781449-214781449 - PD3989a COSM159329 c.253G>A p.V85M Substitution - Missense 2:214792408-214792408 - TCGA-AA-3713-01 COSM1405216 c.2253G>A p.R751R Substitution - coding silent 2:214728757-214728757 - 1 COSM4166543 c.965G>A p.R322H Substitution - Missense 2:214780909-214780909 - T3255 COSM4665180 c.2224T>G p.L742V Substitution - Missense 2:214728786-214728786 - TCGA-CJ-4904-01 COSM476870 c.312G>C p.M104I Substitution - Missense 2:214792349-214792349 - TCGA-CG-4455-01 COSM4091000 c.456G>A p.K152K Substitution - coding silent 2:214781418-214781418 - BD49T COSM5497693 c.1219G>A p.V407M Substitution - Missense 2:214780655-214780655 - 8051712 COSM3768942 c.265C>G p.P89A Substitution - Missense 2:214792396-214792396 - 1604875 COSM141016 c.1356T>G p.S452R Substitution - Missense 2:214769271-214769271 - SNUH_G16_S1 COSM3757932 c.1134G>C p.R378S Substitution - Missense 2:214780740-214780740 - 1 COSM4166544 c.965G>A p.R322H Substitution - Missense 2:214780909-214780909 - RMH004-R10 COSM4411216 c.1490C>T p.P497L Substitution - Missense 2:214767560-214767560 - 1N53-VS-1T53 COSM4976903 c.919T>A p.Y307N Substitution - Missense 2:214780955-214780955 - A549 COSM1683895 c.1071_1091del21 p.L359_P365delLPECSSP Deletion - In frame 2:214780783-214780803 - MO_1012 COSM5548855 c.519A>G p.A173A Substitution - coding silent 2:214781355-214781355 - TCGA-FD-A3B6-01 COSM1306400 c.1816C>G p.H606D Substitution - Missense 2:214745154-214745154 - PT24_1 COSM5904142 c.1970C>T p.P657L Substitution - Missense 2:214730442-214730442 - LIM2551 COSM1591873 c.1317C>T p.G439G Substitution - coding silent 2:214769310-214769310 - TCGA-AP-A0LM-01 COSM1591872 c.1217G>A p.R406Q Substitution - Missense 2:214780657-214780657 - TCGA-DU-6396-01 COSM3972003 c.1721G>A p.G574D Substitution - Missense 2:214745811-214745811 - pfg081T COSM4764553 c.2179G>A p.D727N Substitution - Missense 2:214728831-214728831 - TCGA-AP-A0LM-01 COSM1016068 c.1217G>A p.R406Q Substitution - Missense 2:214780657-214780657 - 2474088 COSM309429 c.1317C>T p.G439G Substitution - coding silent 2:214769310-214769310 - YUKLAB COSM1691961 c.1339C>T p.L447F Substitution - Missense 2:214769288-214769288 - CRC-06T COSM5456922 c.2171C>T p.A724V Substitution - Missense 2:214728839-214728839 - pfg024T COSM1641823 c.1568+10T>G p.? Unknown 2:214767472-214767472 - SNUH_G10_S1 COSM3757933 c.1053G>C p.T351T Substitution - coding silent 2:214780821-214780821 - TCGA-AM-5821-01 COSM3757931 c.1134G>C p.R378S Substitution - Missense 2:214780740-214780740 - TCGA-PD-A5DF-01 COSM4909762 c.1589C>T p.P530L Substitution - Missense 2:214752535-214752535 - SNUH_G45_S1 COSM3757929 c.1519G>A p.V507M Substitution - Missense 2:214767531-214767531 - ESCC_152 COSM2716867 c.1090T>A p.S364T Substitution - Missense 2:214780784-214780784 - TCGA-56-6546-01 COSM720079 c.1032T>G p.S344R Substitution - Missense 2:214780842-214780842 - TCGA-C5-A1BQ-01 COSM4842588 c.808G>A p.E270K Substitution - Missense 2:214781066-214781066 - TCGA-BR-4357-01 COSM4090995 c.2025C>T p.C675C Substitution - coding silent 2:214728985-214728985 - 1517_CLM COSM5755977 c.1676T>C p.V559A Substitution - Missense 2:214752448-214752448 - TCGA-28-1753-01 COSM3407556 c.557G>A p.S186N Substitution - Missense 2:214781317-214781317 - pfg116T COSM4764556 c.245G>T p.G82V Substitution - Missense 2:214792416-214792416 - ESO-0015 COSM1245951 c.523G>C p.A175P Substitution - Missense 2:214781351-214781351 - TCGA-AP-A059-01 COSM1591869 c.568G>T p.D190Y Substitution - Missense 2:214781306-214781306 - TCGA-AZ-4615-01 COSM3695247 c.900T>C p.P300P Substitution - coding silent 2:214780974-214780974 - 214 COSM4424344 c.1843C>G p.Q615E Substitution - Missense 2:214745127-214745127 - TCGA-C5-A1BQ-01 COSM4842589 c.808G>A p.E270K Substitution - Missense 2:214781066-214781066 - DM10 COSM5607930 c.266C>A p.P89Q Substitution - Missense 2:214792395-214792395 - ESCC_152 COSM2716866 c.1090T>A p.S364T Substitution - Missense 2:214780784-214780784 - TCGA-AZ-4615-01 COSM3695248 c.900T>C p.P300P Substitution - coding silent 2:214780974-214780974 - TCGA-AA-3713-01 COSM1405215 c.2253G>A p.R751R Substitution - coding silent 2:214728757-214728757 - HCT-116 COSM1683895 c.1071_1091del21 p.L359_P365delLPECSSP Deletion - In frame 2:214780783-214780803 - ESO-117 COSM1245954 c.754C>T p.P252S Substitution - Missense 2:214781120-214781120 - LIM2551 COSM309429 c.1317C>T p.G439G Substitution - coding silent 2:214769310-214769310 - TCGA-C5-A1BQ-01 COSM4795045 c.802G>A p.E268K Substitution - Missense 2:214781072-214781072 - PD3989a COSM4809378 c.253G>A p.V85M Substitution - Missense 2:214792408-214792408 - TCGA-AX-A0J1-01 COSM1591873 c.1317C>T p.G439G Substitution - coding silent 2:214769310-214769310 - 2474087 COSM1591873 c.1317C>T p.G439G Substitution - coding silent 2:214769310-214769310 - TCGA-CZ-5462-01 COSM476869 c.1567G>A p.V523I Substitution - Missense 2:214767483-214767483 - TCGA-AC-A23H-01 COSM3838528 c.1755C>T p.L585L Substitution - coding silent 2:214745777-214745777 - DM37 COSM5607935 c.1231C>T p.P411S Substitution - Missense 2:214780643-214780643 - CSCC-10-T COSM4482985 c.265C>T p.P89S Substitution - Missense 2:214792396-214792396 - HCC106 COSM1614312 c.589A>T p.K197* Substitution - Nonsense 2:214781285-214781285 - TCGA-HU-A4HD-01 COSM4090992 c.2119C>T p.P707S Substitution - Missense 2:214728891-214728891 - PD4203a COSM159328 c.365-1G>A p.? Unknown 2:214781510-214781510 - HCC132 COSM1614309 c.2074A>T p.I692F Substitution - Missense 2:214728936-214728936 - HCT-116 COSM1683894 c.1071_1091del21 p.L359_P365delLPECSSP Deletion - In frame 2:214780783-214780803 - HCC132 COSM1614308 c.2074A>T p.I692F Substitution - Missense 2:214728936-214728936 - ESCC_123 COSM2716869 c.1075T>C p.L359L Substitution - coding silent 2:214780799-214780799 - TCGA-CJ-4904-01 COSM1136597 c.312G>C p.M104I Substitution - Missense 2:214792349-214792349 - 2290929 COSM4439855 c.1811-10delT p.? Unknown 2:214745169-214745169 - HCC106 COSM1614313 c.589A>T p.K197* Substitution - Nonsense 2:214781285-214781285 - 587222 COSM1184438 c.158+1G>A p.? Unknown 2:214809411-214809411 - TCGA-33-4532-01 COSM720083 c.1674A>T p.S558S Substitution - coding silent 2:214752450-214752450 - ESCC_BICR_042T COSM5443772 c.1477C>G p.Q493E Substitution - Missense 2:214767573-214767573 - DM37 COSM5607934 c.1231C>T p.P411S Substitution - Missense 2:214780643-214780643 - TCGA-D1-A177-01 COSM1153729 c.1791T>C p.Y597Y Substitution - coding silent 2:214745741-214745741 - STC246 COSM5058638 c.1539A>G p.L513L Substitution - coding silent 2:214767511-214767511 - 2492729 COSM5728083 c.1698G>A p.R566R Substitution - coding silent 2:214745834-214745834 - ESCC_BICR_042T COSM5443773 c.1477C>G p.Q493E Substitution - Missense 2:214767573-214767573 - TCGA-AM-5821-01 COSM1482743 c.70C>T p.P24S Substitution - Missense 2:214809500-214809500 - S0023 COSM2716852 c.1399G>A p.E467K Substitution - Missense 2:214767651-214767651 - ACINAR03 COSM1733872 c.276A>G p.I92M Substitution - Missense 2:214792385-214792385 - TCGA-GV-A3JZ-01 COSM1306402 c.605C>G p.S202C Substitution - Missense 2:214781269-214781269 - PD4203a COSM4810181 c.365-1G>A p.? Unknown 2:214781510-214781510 - TCGA-AM-5821-01 COSM3757929 c.1519G>A p.V507M Substitution - Missense 2:214767531-214767531 - PCSI_0227_Pa_P_526 COSM4962336 c.1614T>C p.S538S Substitution - coding silent 2:214752510-214752510 - TCGA-AM-5821-01 COSM3757932 c.1134G>C p.R378S Substitution - Missense 2:214780740-214780740 - TCGA-HU-A4GQ-01 COSM4090990 c.2230A>G p.N744D Substitution - Missense 2:214728780-214728780 - LN18 COSM5712138 c.863C>G p.S288C Substitution - Missense 2:214781011-214781011 - TCGA-A8-A06R-01 COSM1482742 c.267G>A p.P89P Substitution - coding silent 2:214792394-214792394 - TCGA-BP-4766-01 COSM3364563 c.1949A>C p.K650T Substitution - Missense 2:214730463-214730463 - 2521260 COSM5891320 c.2287T>G p.F763V Substitution - Missense 2:214728723-214728723 - ESO-838 COSM1245958 c.1165A>C p.S389R Substitution - Missense 2:214780709-214780709 - sysucc-1370T COSM5471409 c.1753C>T p.L585F Substitution - Missense 2:214745779-214745779 - DM10 COSM5607931 c.266C>A p.P89Q Substitution - Missense 2:214792395-214792395 - LN18 COSM5712139 c.863C>G p.S288C Substitution - Missense 2:214781011-214781011 - PTC-28C COSM1482743 c.70C>T p.P24S Substitution - Missense 2:214809500-214809500 - 39_tFL COSM4171138 c.1549G>A p.G517R Substitution - Missense 2:214767501-214767501 - TCGA-B5-A11E-01 COSM1591874 c.1873C>A p.L625I Substitution - Missense 2:214745097-214745097 - ESCC_27 COSM5627226 c.2191C>T p.R731C Substitution - Missense 2:214728819-214728819 - T1184 COSM4665185 c.989G>T p.S330I Substitution - Missense 2:214780885-214780885 - BRC20 COSM5025838 c.1741C>A p.Q581K Substitution - Missense 2:214745791-214745791 - 587238 COSM1184440 c.970C>A p.H324N Substitution - Missense 2:214780904-214780904 - RK308_C01 COSM3743582 c.6G>A p.P2P Substitution - coding silent 2:214809564-214809564 - PTC-28C COSM442275 c.70C>T p.P24S Substitution - Missense 2:214809500-214809500 - 8068548 COSM3768939 c.1415G>A p.G472E Substitution - Missense 2:214767635-214767635 - T2269 COSM4665186 c.334C>T p.R112* Substitution - Nonsense 2:214792327-214792327 - H23 COSM1196324 c.502G>A p.A168T Substitution - Missense 2:214781372-214781372 - 39_tFL COSM4171137 c.1549G>A p.G517R Substitution - Missense 2:214767501-214767501 - sysucc-1370T COSM5471410 c.1753C>T p.L585F Substitution - Missense 2:214745779-214745779 - PCSI_0083_Pa_P_526 COSM3782109 c.1972C>T p.R658C Substitution - Missense 2:214730440-214730440 - LUAD-2GUGK COSM400590 c.1727G>T p.G576V Substitution - Missense 2:214745805-214745805 - HCC30T COSM1614311 c.1139A>C p.N380T Substitution - Missense 2:214780735-214780735 - ESO-H01 COSM1245949 c.623_624insA p.K209fs*5 Insertion - Frameshift 2:214781250-214781251 - YUMER COSM1691958 c.1841T>C p.V614A Substitution - Missense 2:214745129-214745129 - CHC892T COSM4795046 c.802G>A p.E268K Substitution - Missense 2:214781072-214781072 - HCC132T COSM1614308 c.2074A>T p.I692F Substitution - Missense 2:214728936-214728936 - 2492729 COSM5728082 c.1698G>A p.R566R Substitution - coding silent 2:214745834-214745834 - TCGA-28-1753-01 COSM3407555 c.557G>A p.S186N Substitution - Missense 2:214781317-214781317 - HCT15 COSM1669728 c.2170G>A p.A724T Substitution - Missense 2:214728840-214728840 - TCGA-CZ-5462-01 COSM1136596 c.1567G>A p.V523I Substitution - Missense 2:214767483-214767483 - LUAD-S01315 COSM345278 c.1315-2A>C p.? Unknown 2:214769314-214769314 - BD49T COSM5497692 c.1219G>A p.V407M Substitution - Missense 2:214780655-214780655 - TCGA-BS-A0UJ-01 COSM1016069 c.893T>C p.V298A Substitution - Missense 2:214780981-214780981 - ESCC_123 COSM4309422 c.1091C>T p.S364L Substitution - Missense 2:214780783-214780783 - ESCC_123 COSM2716868 c.1075T>C p.L359L Substitution - coding silent 2:214780799-214780799 - CPCG0103-P4 COSM3927758 c.846G>T p.L282F Substitution - Missense 2:214781028-214781028 - KPOPBR-40-T COSM5965975 c.215+8A>C p.? Unknown 2:214797053-214797053 - C0076T COSM4154784 c.599C>T p.A200V Substitution - Missense 2:214781275-214781275 - MO_1012 COSM5548856 c.519A>G p.A173A Substitution - coding silent 2:214781355-214781355 - TCGA-CG-4455-01 COSM4091001 c.456G>A p.K152K Substitution - coding silent 2:214781418-214781418 - ESO-117 COSM1245953 c.754C>T p.P252S Substitution - Missense 2:214781120-214781120 - TCGA-AP-A051-01 COSM1016075 c.490C>T p.Q164* Substitution - Nonsense 2:214781384-214781384 - ACINAR03 COSM1733873 c.276A>G p.I92M Substitution - Missense 2:214792385-214792385 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.591641;Hs.591642 2q34-q35 601593

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.1568+10T>G 2 215632196 STAD A C Missense p.S344R c.1032T>G 2 215645566 LUSC - AGGC IntronicInsertion . c.1315-2633_1315-2632insGCCT 2 215636668 CLL A G Synonymous p.Y597Y c.1791T>C 2 215610465 UCEC A T 3-UTRSNV . c.2331+111T>A 2 215593292 CM A T Missense p.E665D c.1995A>T 2 215595141 HC - ATTTTTT IntronicInsertion . c.1903+5270_1903+5271insAAAAATA 2 215604521 CLL C A Missense p.G674V c.2021G>T 2 215593713 SCLC C A Missense p.L679F c.2037G>T 2 215593697 COREAD C A Missense p.R21L c.62G>T 2 215674232 CM C A Missense p.S602I c.1805G>T 2 215610451 LUAD C A Missense p.S72I c.215G>T 2 215661785 STAD C A Nonsense p.E648* c.1942G>T 2 215595194 LUAD C A Synonymous p.L667L c.2001G>T 2 215595135 ESCA C - Frameshift p.A613Qfs*6 c.1837delG 2 215609857 GBM C G IntronicSNV . c.158+231G>C 2 215673905 CLL C G Missense p.A175P c.523G>C 2 215646075 ESCA C G Missense p.M104I c.312G>C 2 215657073 RCCC C G Missense p.R664T c.1991G>C 2 215595145 LUAD C T Missense p.A413T c.1237G>A 2 215645361 LUSC C T Missense p.E355K c.1063G>A 2 215645535 CM C T Missense p.E771K c.2311G>A 2 215593423 CM C T Missense p.G574D c.1721G>A 2 215610535 LGG C T Missense p.S186N c.557G>A 2 215646041 GBM C T Missense p.S186N c.557G>A 2 215646041 MM C T Missense p.V163M c.487G>A 2 215646111 LUAD C T Missense p.V523I c.1567G>A 2 215632207 RCCC C T Missense p.V85M c.253G>A 2 215657132 BRCA C T Nonsense p.W680* c.2039G>A 2 215593695 COREAD C T SpliceAcceptorSNV . c.365-1G>A 2 215646234 BRCA C T Synonymous p.K152K c.456G>A 2 215646142 STAD C T Synonymous p.P89P c.267G>A 2 215657118 BRCA G A Missense p.A435V c.1304C>T 2 215645294 CM G A Missense p.A468V c.1403C>T 2 215632371 STAD G A Missense p.P252S c.754C>T 2 215645844 ESCA G A Missense p.P281S c.841C>T 2 215645757 PRAD G A Missense p.S192F c.575C>T 2 215646023 LUAD G A Missense p.T489I c.1466C>T 2 215632308 CM G A Synonymous p.C675C c.2025C>T 2 215593709 STAD G A Synonymous p.D712D c.2136C>T 2 215593598 BRCA G A Synonymous p.G439G c.1317C>T 2 215634034 SCLC G A Synonymous p.I249I c.747C>T 2 215645851 PRAD G A Synonymous p.P331P c.993C>T 2 215645605 CM G C Missense p.H606D c.1816C>G 2 215609878 BLCA G C Missense p.S202C c.605C>G 2 215645993 BLCA G C Missense p.S310C c.929C>G 2 215645669 HNSC G T Missense p.P300T c.898C>A 2 215645700 HNSC G T Missense p.P411H c.1232C>A 2 215645366 LUSC G T Missense p.Q581K c.1741C>A 2 215610515 BRCA - T 3-UTRInsertion . c.2331+141dupA 2 215593262 THCA T A Missense p.I254L c.760A>T 2 215645838 LUAD T A Synonymous p.S558S c.1674A>T 2 215617174 LUSC T C 3-UTRSNV . c.2331+11A>G 2 215593392 CM T C Missense p.I388V c.1162A>G 2 215645436 HNSC T C Missense p.K160R c.479A>G 2 215646119 CM T C Missense p.T375A c.1123A>G 2 215645475 STAD - T Frameshift p.K209Efs*5 c.623dupA 2 215645975 ESCA T G Missense p.K650T c.1949A>C 2 215595187 RCCC T G Missense p.S389R c.1165A>C 2 215645433 ESCA