Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 16 84684521 84684521 + Silent SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 g.chr16:84684521C>T c.48C>T c.(46-48)atC>atT p.I16I BLCA 16 84690536 84690536 + Silent SNP C C T TCGA-XF-A8HI-01A-11D-A38G-08 TCGA-XF-A8HI-10A-01D-A38J-08 g.chr16:84690536C>T c.123C>T c.(121-123)ctC>ctT p.L41L BLCA 16 84690923 84690923 + Silent SNP C C T TCGA-XF-A8HI-01A-11D-A38G-08 TCGA-XF-A8HI-10A-01D-A38J-08 g.chr16:84690923C>T c.510C>T c.(508-510)ttC>ttT p.F170F BLCA 16 84691110 84691110 + Missense_Mutation SNP G G C TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr16:84691110G>C c.697G>C c.(697-699)Gag>Cag p.E233Q BLCA 16 84693388 84693388 + Missense_Mutation SNP G G T TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr16:84693388G>T c.1160G>T c.(1159-1161)cGt>cTt p.R387L BLCA 16 84693447 84693447 + Missense_Mutation SNP G G A TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr16:84693447G>A c.1219G>A c.(1219-1221)Gag>Aag p.E407K BLCA 16 84695223 84695223 + Silent SNP C C T TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr16:84695223C>T c.1335C>T c.(1333-1335)ttC>ttT p.F445F BRCA 16 84690686 84690686 + Silent SNP C C T TCGA-E2-A574-01A-11D-A29N-09 TCGA-E2-A574-10A-01D-A29N-09 g.chr16:84690686C>T c.273C>T c.(271-273)ggC>ggT p.G91G BRCA 16 84690716 84690716 + Silent SNP G G A TCGA-BH-A203-01A-12D-A167-09 TCGA-BH-A203-11A-42D-A167-09 g.chr16:84690716G>A c.303G>A c.(301-303)gtG>gtA p.V101V BRCA 16 84695234 84695235 + Frame_Shift_Ins INS - - G TCGA-A8-A09R-01A-11W-A019-09 TCGA-A8-A09R-10A-01W-A021-09 g.chr16:84695234_84695235insG c.1346_1347insG c.(1345-1350)tcggggfs p.SG449fs CESC 16 84690989 84690989 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr16:84690989G>C c.576G>C c.(574-576)aaG>aaC p.K192N CESC 16 84695382 84695382 + Silent SNP C C T TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr16:84695382C>T c.1494C>T c.(1492-1494)atC>atT p.I498I CESC 16 84695457 84695457 + Missense_Mutation SNP C C G TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr16:84695457C>G c.1569C>G c.(1567-1569)tgC>tgG p.C523W COAD 16 84690779 84690779 + Silent SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr16:84690779G>A c.366G>A c.(364-366)acG>acA p.T122T COAD 16 84690959 84690959 + Silent SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr16:84690959C>T c.546C>T c.(544-546)ccC>ccT p.P182P COAD 16 84691175 84691175 + Silent SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr16:84691175C>T c.762C>T c.(760-762)tgC>tgT p.C254C COAD 16 84691276 84691276 + Missense_Mutation SNP C C T TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr16:84691276C>T c.863C>T c.(862-864)aCg>aTg p.T288M COAD 16 84691442 84691442 + Frame_Shift_Del DEL G G - TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr16:84691442delG c.1029delG c.(1027-1029)ctgfs p.L343fs COAD 16 84693512 84693512 + Silent SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr16:84693512C>T c.1284C>T c.(1282-1284)gcC>gcT p.A428A COAD 16 84695205 84695205 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr16:84695205C>T c.1317C>T c.(1315-1317)ggC>ggT p.G439G COAD 16 84695336 84695336 + Missense_Mutation SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr16:84695336G>A c.1448G>A c.(1447-1449)cGc>cAc p.R483H COAD 16 84695404 84695404 + Missense_Mutation SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr16:84695404G>A c.1516G>A c.(1516-1518)Gag>Aag p.E506K COAD 16 84695479 84695479 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr16:84695479C>T c.1591C>T c.(1591-1593)Ccg>Tcg p.P531S COADREAD 16 84690779 84690779 + Silent SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr16:84690779G>A c.366G>A c.(364-366)acG>acA p.T122T COADREAD 16 84690959 84690959 + Silent SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr16:84690959C>T c.546C>T c.(544-546)ccC>ccT p.P182P COADREAD 16 84691175 84691175 + Silent SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr16:84691175C>T c.762C>T c.(760-762)tgC>tgT p.C254C COADREAD 16 84691276 84691276 + Missense_Mutation SNP C C T TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr16:84691276C>T c.863C>T c.(862-864)aCg>aTg p.T288M COADREAD 16 84691442 84691442 + Frame_Shift_Del DEL G G - TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr16:84691442delG c.1029delG c.(1027-1029)ctgfs p.L343fs COADREAD 16 84693512 84693512 + Silent SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr16:84693512C>T c.1284C>T c.(1282-1284)gcC>gcT p.A428A COADREAD 16 84695205 84695205 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr16:84695205C>T c.1317C>T c.(1315-1317)ggC>ggT p.G439G COADREAD 16 84695234 84695235 + Frame_Shift_Ins INS - - G TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr16:84695234_84695235insG c.1346_1347insG c.(1345-1350)tcggggfs p.SG449fs COADREAD 16 84695336 84695336 + Missense_Mutation SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr16:84695336G>A c.1448G>A c.(1447-1449)cGc>cAc p.R483H COADREAD 16 84695404 84695404 + Missense_Mutation SNP G G A TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr16:84695404G>A c.1516G>A c.(1516-1518)Gag>Aag p.E506K COADREAD 16 84695479 84695479 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr16:84695479C>T c.1591C>T c.(1591-1593)Ccg>Tcg p.P531S DLBC 16 84691156 84691156 + Missense_Mutation SNP G G A TCGA-FA-A82F-01A-11D-A382-10 TCGA-FA-A82F-10A-01D-A385-10 g.chr16:84691156G>A c.743G>A c.(742-744)cGc>cAc p.R248H DLBC 16 84691256 84691256 + Silent SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr16:84691256C>T c.843C>T c.(841-843)ccC>ccT p.P281P ESCA 16 84695293 84695293 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr16:84695293C>T c.1405C>T c.(1405-1407)Cgg>Tgg p.R469W GBM 16 84691222 84691222 + Missense_Mutation SNP C C A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 g.chr16:84691222C>A c.809C>A c.(808-810)gCc>gAc p.A270D GBMLGG 16 84691222 84691222 + Missense_Mutation SNP C C A TCGA-32-4211-01A-01D-1353-08 TCGA-32-4211-10A-01D-1353-08 g.chr16:84691222C>A c.809C>A c.(808-810)gCc>gAc p.A270D GBMLGG 16 84695193 84695193 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:84695193C>T c.1305C>T c.(1303-1305)taC>taT p.Y435Y GBMLGG 16 84695222 84695222 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:84695222T>C c.1334T>C c.(1333-1335)tTc>tCc p.F445S HNSC 16 84695244 84695244 + Silent SNP C C T TCGA-T2-A6WZ-01A-21D-A34J-08 TCGA-T2-A6WZ-10B-01D-A34M-08 g.chr16:84695244C>T c.1356C>T c.(1354-1356)caC>caT p.H452H KIPAN 16 84690712 84690712 + Missense_Mutation SNP T T A TCGA-CJ-4894-01A-01D-1373-10 TCGA-CJ-4894-11A-01D-1373-10 g.chr16:84690712T>A c.299T>A c.(298-300)gTg>gAg p.V100E KIPAN 16 84690911 84690911 + Silent SNP C C T TCGA-2Z-A9JQ-01A-11D-A42J-10 TCGA-2Z-A9JQ-10A-01D-A42M-10 g.chr16:84690911C>T c.498C>T c.(496-498)ttC>ttT p.F166F KIPAN 16 84691436 84691436 + Frame_Shift_Del DEL G G - TCGA-BP-5182-01A-01D-1429-08 TCGA-BP-5182-11A-01D-1429-08 g.chr16:84691436delG c.1023delG c.(1021-1023)gcgfs p.A341fs KIRC 16 84690712 84690712 + Missense_Mutation SNP T T A TCGA-CJ-4894-01A-01D-1373-10 TCGA-CJ-4894-11A-01D-1373-10 g.chr16:84690712T>A c.299T>A c.(298-300)gTg>gAg p.V100E KIRC 16 84691436 84691436 + Frame_Shift_Del DEL G G - TCGA-BP-5182-01A-01D-1429-08 TCGA-BP-5182-11A-01D-1429-08 g.chr16:84691436delG c.1023delG c.(1021-1023)gcgfs p.A341fs KIRP 16 84690911 84690911 + Silent SNP C C T TCGA-2Z-A9JQ-01A-11D-A42J-10 TCGA-2Z-A9JQ-10A-01D-A42M-10 g.chr16:84690911C>T c.498C>T c.(496-498)ttC>ttT p.F166F LGG 16 84695193 84695193 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:84695193C>T c.1305C>T c.(1303-1305)taC>taT p.Y435Y LGG 16 84695222 84695222 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:84695222T>C c.1334T>C c.(1333-1335)tTc>tCc p.F445S LIHC 16 84691009 84691009 + Missense_Mutation SNP G G A TCGA-DD-AACP-01A-11D-A40R-10 TCGA-DD-AACP-10A-01D-A40U-10 g.chr16:84691009G>A c.596G>A c.(595-597)aGc>aAc p.S199N LUAD 16 84690773 84690773 + Silent SNP G G T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr16:84690773G>T c.360G>T c.(358-360)ctG>ctT p.L120L LUAD 16 84690791 84690791 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr16:84690791G>T c.378G>T c.(376-378)ctG>ctT p.L126L LUAD 16 84690870 84690870 + Nonsense_Mutation SNP G G T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 g.chr16:84690870G>T c.457G>T c.(457-459)Gag>Tag p.E153* LUAD 16 84690886 84690886 + Missense_Mutation SNP A A G TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr16:84690886A>G c.473A>G c.(472-474)tAc>tGc p.Y158C LUAD 16 84691178 84691178 + Silent SNP G G T TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr16:84691178G>T c.765G>T c.(763-765)tcG>tcT p.S255S LUAD 16 84691285 84691285 + Missense_Mutation SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr16:84691285G>A c.872G>A c.(871-873)cGc>cAc p.R291H LUAD 16 84691317 84691317 + Missense_Mutation SNP G G A TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr16:84691317G>A c.904G>A c.(904-906)Ggc>Agc p.G302S LUAD 16 84691417 84691417 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr16:84691417G>T c.1004G>T c.(1003-1005)cGg>cTg p.R335L LUAD 16 84693368 84693368 + Silent SNP G G T TCGA-55-8299-01A-11D-2284-08 TCGA-55-8299-10B-01D-2323-08 g.chr16:84693368G>T c.1140G>T c.(1138-1140)gtG>gtT p.V380V LUAD 16 84695241 84695241 + Silent SNP C C G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr16:84695241C>G c.1353C>G c.(1351-1353)ggC>ggG p.G451G LUAD 16 84695417 84695417 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr16:84695417G>T c.1529G>T c.(1528-1530)cGc>cTc p.R510L LUSC 16 84691194 84691194 + Missense_Mutation SNP G G A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 g.chr16:84691194G>A c.781G>A c.(781-783)Gcc>Acc p.A261T PAAD 16 84684525 84684525 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 g.chr16:84684525G>A c.52G>A c.(52-54)Gaa>Aaa p.E18K PAAD 16 84690700 84690700 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:84690700G>A c.287G>A c.(286-288)gGg>gAg p.G96E PAAD 16 84691069 84691069 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:84691069C>T c.656C>T c.(655-657)aCg>aTg p.T219M PAAD 16 84691332 84691332 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:84691332C>T c.919C>T c.(919-921)Cgg>Tgg p.R307W PAAD 16 84695391 84695391 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:84695391C>T c.1503C>T c.(1501-1503)agC>agT p.S501S PAAD 16 84695471 84695471 + Missense_Mutation SNP G G A TCGA-3A-A9IJ-01A-11D-A397-08 TCGA-3A-A9IJ-10A-01D-A39A-08 g.chr16:84695471G>A c.1583G>A c.(1582-1584)cGc>cAc p.R528H PCPG 16 84693464 84693464 + Silent SNP T T A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 g.chr16:84693464T>A c.1236T>A c.(1234-1236)tcT>tcA p.S412S PRAD 16 84690912 84690912 + Missense_Mutation SNP A A G TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr16:84690912A>G c.499A>G c.(499-501)Atc>Gtc p.I167V PRAD 16 84693388 84693388 + Missense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr16:84693388G>A c.1160G>A c.(1159-1161)cGt>cAt p.R387H PRAD 16 84695401 84695401 + Missense_Mutation SNP A A G TCGA-KC-A4BN-01A-61D-A257-08 TCGA-KC-A4BN-10A-01D-A25A-08 g.chr16:84695401A>G c.1513A>G c.(1513-1515)Atc>Gtc p.I505V READ 16 84695234 84695235 + Frame_Shift_Ins INS - - G TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr16:84695234_84695235insG c.1346_1347insG c.(1345-1350)tcggggfs p.SG449fs SARC 16 84690651 84690651 + Missense_Mutation SNP C C T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 g.chr16:84690651C>T c.238C>T c.(238-240)Cgg>Tgg p.R80W SKCM 16 84690632 84690632 + Silent SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr16:84690632C>T c.219C>T c.(217-219)tcC>tcT p.S73S SKCM 16 84690691 84690691 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr16:84690691C>T c.278C>T c.(277-279)tCc>tTc p.S93F SKCM 16 84690709 84690709 + Missense_Mutation SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr16:84690709C>T c.296C>T c.(295-297)gCc>gTc p.A99V SKCM 16 84691090 84691090 + Missense_Mutation SNP C C T TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr16:84691090C>T c.677C>T c.(676-678)gCc>gTc p.A226V SKCM 16 84691408 84691408 + Missense_Mutation SNP C C T TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 g.chr16:84691408C>T c.995C>T c.(994-996)cCc>cTc p.P332L SKCM 16 84695403 84695403 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr16:84695403C>T c.1515C>T c.(1513-1515)atC>atT p.I505I SKCM 16 84695527 84695527 + Missense_Mutation SNP C C T TCGA-FS-A1ZR-06A-21D-A197-08 TCGA-FS-A1ZR-10A-01D-A199-08 g.chr16:84695527C>T c.1639C>T c.(1639-1641)Cgc>Tgc p.R547C

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 16 84695267 84695267 single base substitution G A downstream_gene_variant AML-US 16 84695267 84695267 single base substitution G A exon_variant AML-US 16 84695267 84695267 single base substitution G A missense_variant R397H 1190G>A AML-US 16 84695267 84695267 single base substitution G A missense_variant R460H 1379G>A BLCA-US 16 84684521 84684521 single base substitution C T synonymous_variant I16I 48C>T BRCA-EU 16 84677429 84677429 single base substitution G C upstream_gene_variant BRCA-EU 16 84678994 84678994 single base substitution G T upstream_gene_variant BRCA-EU 16 84679315 84679315 deletion of <=200bp T - upstream_gene_variant BRCA-EU 16 84679543 84679543 single base substitution T G upstream_gene_variant BRCA-EU 16 84680119 84680119 single base substitution C T upstream_gene_variant BRCA-EU 16 84680347 84680348 deletion of <=200bp GA - upstream_gene_variant BRCA-EU 16 84681971 84681971 single base substitution C T upstream_gene_variant BRCA-EU 16 84685005 84685005 single base substitution G C intron_variant BRCA-EU 16 84687651 84687651 single base substitution C T intron_variant BRCA-EU 16 84687651 84687651 single base substitution C T upstream_gene_variant BRCA-EU 16 84688809 84688809 single base substitution C T intron_variant BRCA-EU 16 84688809 84688809 single base substitution C T upstream_gene_variant BRCA-EU 16 84688955 84688955 single base substitution G A intron_variant BRCA-EU 16 84688955 84688955 single base substitution G A upstream_gene_variant BRCA-EU 16 84690532 84690532 single base substitution G A missense_variant R40H 119G>A BRCA-EU 16 84690532 84690532 single base substitution G A upstream_gene_variant BRCA-EU 16 84691442 84691442 insertion of <=200bp - G downstream_gene_variant BRCA-EU 16 84691442 84691442 insertion of <=200bp - G frameshift_variant L343L? BRCA-EU 16 84691442 84691442 insertion of <=200bp - G upstream_gene_variant BRCA-EU 16 84691469 84691469 single base substitution C A downstream_gene_variant BRCA-EU 16 84691469 84691469 single base substitution C A synonymous_variant G352G 1056C>A BRCA-EU 16 84691469 84691469 single base substitution C A upstream_gene_variant BRCA-EU 16 84691755 84691755 single base substitution G A downstream_gene_variant BRCA-EU 16 84691755 84691755 single base substitution G A exon_variant BRCA-EU 16 84691755 84691755 single base substitution G A intron_variant BRCA-EU 16 84691755 84691755 single base substitution G A upstream_gene_variant BRCA-EU 16 84692084 84692084 single base substitution C G downstream_gene_variant BRCA-EU 16 84692084 84692084 single base substitution C G exon_variant BRCA-EU 16 84692084 84692084 single base substitution C G intron_variant BRCA-EU 16 84692084 84692084 single base substitution C G upstream_gene_variant BRCA-EU 16 84694982 84694982 single base substitution C T downstream_gene_variant BRCA-EU 16 84694982 84694982 single base substitution C T intron_variant BRCA-EU 16 84695508 84695508 single base substitution C T downstream_gene_variant BRCA-EU 16 84695508 84695508 single base substitution C T exon_variant BRCA-EU 16 84695508 84695508 single base substitution C T synonymous_variant G477G 1431C>T BRCA-EU 16 84695508 84695508 single base substitution C T synonymous_variant G540G 1620C>T BRCA-EU 16 84698350 84698350 single base substitution G A downstream_gene_variant BRCA-EU 16 84698350 84698350 single base substitution G A exon_variant BRCA-EU 16 84700011 84700011 single base substitution G A downstream_gene_variant BRCA-EU 16 84700011 84700011 single base substitution G A exon_variant BRCA-EU 16 84700255 84700255 single base substitution A G downstream_gene_variant BRCA-EU 16 84700255 84700255 single base substitution A G exon_variant BRCA-EU 16 84702065 84702065 single base substitution G C downstream_gene_variant BRCA-EU 16 84702445 84702445 single base substitution G T downstream_gene_variant BRCA-EU 16 84703238 84703238 single base substitution G A downstream_gene_variant BRCA-EU 16 84704653 84704653 single base substitution G C downstream_gene_variant BRCA-EU 16 84706141 84706141 single base substitution C G downstream_gene_variant BRCA-FR 16 84678994 84678994 single base substitution G T upstream_gene_variant BRCA-FR 16 84681971 84681971 single base substitution C T upstream_gene_variant BRCA-FR 16 84694490 84694490 single base substitution A G downstream_gene_variant BRCA-FR 16 84694490 84694490 single base substitution A G intron_variant BRCA-FR 16 84694732 84694732 single base substitution G A downstream_gene_variant BRCA-FR 16 84694732 84694732 single base substitution G A intron_variant BRCA-FR 16 84695508 84695508 single base substitution C T downstream_gene_variant BRCA-FR 16 84695508 84695508 single base substitution C T exon_variant BRCA-FR 16 84695508 84695508 single base substitution C T synonymous_variant G477G 1431C>T BRCA-FR 16 84695508 84695508 single base substitution C T synonymous_variant G540G 1620C>T BRCA-KR 16 84690654 84690654 single base substitution G A downstream_gene_variant BRCA-KR 16 84690654 84690654 single base substitution G A missense_variant E81K 241G>A BRCA-KR 16 84690654 84690654 single base substitution G A upstream_gene_variant BRCA-UK 16 84687651 84687651 single base substitution C T intron_variant BRCA-UK 16 84687651 84687651 single base substitution C T upstream_gene_variant BRCA-US 16 84690686 84690686 single base substitution C T downstream_gene_variant BRCA-US 16 84690686 84690686 single base substitution C T synonymous_variant G91G 273C>T BRCA-US 16 84690686 84690686 single base substitution C T upstream_gene_variant BRCA-US 16 84690716 84690716 single base substitution G A downstream_gene_variant BRCA-US 16 84690716 84690716 single base substitution G A synonymous_variant V101V 303G>A BRCA-US 16 84690716 84690716 single base substitution G A upstream_gene_variant BRCA-US 16 84695234 84695234 insertion of <=200bp - G downstream_gene_variant BRCA-US 16 84695234 84695234 insertion of <=200bp - G exon_variant BRCA-US 16 84695234 84695234 insertion of <=200bp - G frameshift_variant S386C? BRCA-US 16 84695234 84695234 insertion of <=200bp - G frameshift_variant S449C? BTCA-JP 16 84690579 84690579 single base substitution C T missense_variant R56C 166C>T BTCA-JP 16 84690579 84690579 single base substitution C T upstream_gene_variant BTCA-JP 16 84691379 84691379 single base substitution C T downstream_gene_variant BTCA-JP 16 84691379 84691379 single base substitution C T synonymous_variant S322S 966C>T BTCA-JP 16 84691379 84691379 single base substitution C T upstream_gene_variant BTCA-JP 16 84695235 84695235 insertion of <=200bp - G downstream_gene_variant BTCA-JP 16 84695235 84695235 insertion of <=200bp - G exon_variant BTCA-JP 16 84695235 84695235 insertion of <=200bp - G frameshift_variant S386S? BTCA-JP 16 84695235 84695235 insertion of <=200bp - G frameshift_variant S449S? BTCA-JP 16 84695336 84695336 single base substitution G A downstream_gene_variant BTCA-JP 16 84695336 84695336 single base substitution G A exon_variant BTCA-JP 16 84695336 84695336 single base substitution G A missense_variant R420H 1259G>A BTCA-JP 16 84695336 84695336 single base substitution G A missense_variant R483H 1448G>A CESC-US 16 84690989 84690989 single base substitution G C downstream_gene_variant CESC-US 16 84690989 84690989 single base substitution G C missense_variant K192N 576G>C CESC-US 16 84690989 84690989 single base substitution G C upstream_gene_variant CESC-US 16 84695382 84695382 single base substitution C T downstream_gene_variant CESC-US 16 84695382 84695382 single base substitution C T exon_variant CESC-US 16 84695382 84695382 single base substitution C T synonymous_variant I435I 1305C>T CESC-US 16 84695382 84695382 single base substitution C T synonymous_variant I498I 1494C>T CESC-US 16 84695457 84695457 single base substitution C G downstream_gene_variant CESC-US 16 84695457 84695457 single base substitution C G exon_variant CESC-US 16 84695457 84695457 single base substitution C G missense_variant C460W 1380C>G CESC-US 16 84695457 84695457 single base substitution C G missense_variant C523W 1569C>G COAD-US 16 84691044 84691044 single base substitution C T downstream_gene_variant COAD-US 16 84691044 84691044 single base substitution C T synonymous_variant L211L 631C>T COAD-US 16 84691044 84691044 single base substitution C T upstream_gene_variant COAD-US 16 84691175 84691175 single base substitution C T downstream_gene_variant COAD-US 16 84691175 84691175 single base substitution C T synonymous_variant C254C 762C>T COAD-US 16 84691175 84691175 single base substitution C T upstream_gene_variant COAD-US 16 84691276 84691276 single base substitution C T downstream_gene_variant COAD-US 16 84691276 84691276 single base substitution C T missense_variant T288M 863C>T COAD-US 16 84691276 84691276 single base substitution C T upstream_gene_variant COAD-US 16 84691442 84691442 deletion of <=200bp G - downstream_gene_variant COAD-US 16 84691442 84691442 deletion of <=200bp G - frameshift_variant L343 COAD-US 16 84691442 84691442 deletion of <=200bp G - upstream_gene_variant COAD-US 16 84693512 84693512 single base substitution C T downstream_gene_variant COAD-US 16 84693512 84693512 single base substitution C T exon_variant COAD-US 16 84693512 84693512 single base substitution C T intron_variant COAD-US 16 84693512 84693512 single base substitution C T synonymous_variant A428A 1284C>T COAD-US 16 84695205 84695205 single base substitution C T downstream_gene_variant COAD-US 16 84695205 84695205 single base substitution C T exon_variant COAD-US 16 84695205 84695205 single base substitution C T synonymous_variant G376G 1128C>T COAD-US 16 84695205 84695205 single base substitution C T synonymous_variant G439G 1317C>T COAD-US 16 84695336 84695336 single base substitution G A downstream_gene_variant COAD-US 16 84695336 84695336 single base substitution G A exon_variant COAD-US 16 84695336 84695336 single base substitution G A missense_variant R420H 1259G>A COAD-US 16 84695336 84695336 single base substitution G A missense_variant R483H 1448G>A COAD-US 16 84695404 84695404 single base substitution G A downstream_gene_variant COAD-US 16 84695404 84695404 single base substitution G A exon_variant COAD-US 16 84695404 84695404 single base substitution G A missense_variant E443K 1327G>A COAD-US 16 84695404 84695404 single base substitution G A missense_variant E506K 1516G>A COAD-US 16 84695479 84695479 single base substitution C T downstream_gene_variant COAD-US 16 84695479 84695479 single base substitution C T exon_variant COAD-US 16 84695479 84695479 single base substitution C T missense_variant P468S 1402C>T COAD-US 16 84695479 84695479 single base substitution C T missense_variant P531S 1591C>T COAD-US 16 84695490 84695490 single base substitution C T downstream_gene_variant COAD-US 16 84695490 84695490 single base substitution C T exon_variant COAD-US 16 84695490 84695490 single base substitution C T synonymous_variant H471H 1413C>T COAD-US 16 84695490 84695490 single base substitution C T synonymous_variant H534H 1602C>T COCA-CN 16 84690767 84690767 single base substitution C T downstream_gene_variant COCA-CN 16 84690767 84690767 single base substitution C T synonymous_variant Y118Y 354C>T COCA-CN 16 84690767 84690767 single base substitution C T upstream_gene_variant COCA-CN 16 84691038 84691038 single base substitution G A downstream_gene_variant COCA-CN 16 84691038 84691038 single base substitution G A missense_variant D209N 625G>A COCA-CN 16 84691038 84691038 single base substitution G A upstream_gene_variant COCA-CN 16 84691247 84691247 single base substitution G A downstream_gene_variant COCA-CN 16 84691247 84691247 single base substitution G A synonymous_variant A278A 834G>A COCA-CN 16 84691247 84691247 single base substitution G A upstream_gene_variant COCA-CN 16 84691416 84691416 single base substitution C T downstream_gene_variant COCA-CN 16 84691416 84691416 single base substitution C T missense_variant R335W 1003C>T COCA-CN 16 84691416 84691416 single base substitution C T upstream_gene_variant COCA-CN 16 84693299 84693299 single base substitution G A downstream_gene_variant COCA-CN 16 84693299 84693299 single base substitution G A exon_variant COCA-CN 16 84693299 84693299 single base substitution G A intron_variant COCA-CN 16 84693514 84693514 single base substitution G A downstream_gene_variant COCA-CN 16 84693514 84693514 single base substitution G A exon_variant COCA-CN 16 84693514 84693514 single base substitution G A intron_variant COCA-CN 16 84693514 84693514 single base substitution G A missense_variant G429D 1286G>A EOPC-DE 16 84703243 84703243 single base substitution C G downstream_gene_variant ESAD-UK 16 84677911 84677911 single base substitution A C upstream_gene_variant ESAD-UK 16 84678291 84678291 single base substitution A C upstream_gene_variant ESAD-UK 16 84684200 84684200 single base substitution T C intron_variant ESAD-UK 16 84686998 84686998 single base substitution A G intron_variant ESAD-UK 16 84686998 84686998 single base substitution A G upstream_gene_variant ESAD-UK 16 84688383 84688383 single base substitution A C intron_variant ESAD-UK 16 84688383 84688383 single base substitution A C upstream_gene_variant ESAD-UK 16 84688511 84688511 single base substitution C T intron_variant ESAD-UK 16 84688511 84688511 single base substitution C T upstream_gene_variant ESAD-UK 16 84689138 84689138 single base substitution G A intron_variant ESAD-UK 16 84689138 84689138 single base substitution G A upstream_gene_variant ESAD-UK 16 84690293 84690293 single base substitution A C intron_variant ESAD-UK 16 84690293 84690293 single base substitution A C upstream_gene_variant ESAD-UK 16 84691370 84691370 single base substitution C T downstream_gene_variant ESAD-UK 16 84691370 84691370 single base substitution C T synonymous_variant D319D 957C>T ESAD-UK 16 84691370 84691370 single base substitution C T upstream_gene_variant ESAD-UK 16 84692076 84692076 single base substitution C G downstream_gene_variant ESAD-UK 16 84692076 84692076 single base substitution C G exon_variant ESAD-UK 16 84692076 84692076 single base substitution C G intron_variant ESAD-UK 16 84692076 84692076 single base substitution C G upstream_gene_variant ESAD-UK 16 84692240 84692240 single base substitution G A downstream_gene_variant ESAD-UK 16 84692240 84692240 single base substitution G A exon_variant ESAD-UK 16 84692240 84692240 single base substitution G A intron_variant ESAD-UK 16 84692240 84692240 single base substitution G A upstream_gene_variant ESAD-UK 16 84693264 84693264 single base substitution C T downstream_gene_variant ESAD-UK 16 84693264 84693264 single base substitution C T exon_variant ESAD-UK 16 84693264 84693264 single base substitution C T intron_variant ESAD-UK 16 84695418 84695418 single base substitution C T downstream_gene_variant ESAD-UK 16 84695418 84695418 single base substitution C T exon_variant ESAD-UK 16 84695418 84695418 single base substitution C T synonymous_variant R447R 1341C>T ESAD-UK 16 84695418 84695418 single base substitution C T synonymous_variant R510R 1530C>T ESAD-UK 16 84698330 84698330 single base substitution G T downstream_gene_variant ESAD-UK 16 84698330 84698330 single base substitution G T exon_variant ESAD-UK 16 84699512 84699512 single base substitution C T downstream_gene_variant ESAD-UK 16 84699512 84699512 single base substitution C T exon_variant ESAD-UK 16 84699953 84699953 single base substitution G A downstream_gene_variant ESAD-UK 16 84699953 84699953 single base substitution G A exon_variant ESAD-UK 16 84703735 84703735 single base substitution G T downstream_gene_variant ESAD-UK 16 84704538 84704538 single base substitution G A downstream_gene_variant ESCA-CN 16 84690810 84690810 single base substitution G C downstream_gene_variant ESCA-CN 16 84690810 84690810 single base substitution G C missense_variant D133H 397G>C ESCA-CN 16 84690810 84690810 single base substitution G C upstream_gene_variant GBM-US 16 84691222 84691222 single base substitution C A downstream_gene_variant GBM-US 16 84691222 84691222 single base substitution C A missense_variant A270D 809C>A GBM-US 16 84691222 84691222 single base substitution C A upstream_gene_variant KIRC-US 16 84690712 84690712 single base substitution T A downstream_gene_variant KIRC-US 16 84690712 84690712 single base substitution T A missense_variant V100E 299T>A KIRC-US 16 84690712 84690712 single base substitution T A upstream_gene_variant KIRC-US 16 84691436 84691436 deletion of <=200bp G - downstream_gene_variant KIRC-US 16 84691436 84691436 deletion of <=200bp G - frameshift_variant A341 KIRC-US 16 84691436 84691436 deletion of <=200bp G - upstream_gene_variant KIRP-US 16 84696989 84696990 deletion of <=200bp AC - downstream_gene_variant KIRP-US 16 84696989 84696990 deletion of <=200bp AC - exon_variant LAML-KR 16 84690467 84690467 single base substitution C T intron_variant LAML-KR 16 84690467 84690467 single base substitution C T upstream_gene_variant LICA-FR 16 84688604 84688604 single base substitution A T intron_variant LICA-FR 16 84688604 84688604 single base substitution A T upstream_gene_variant LICA-FR 16 84691034 84691034 single base substitution G A downstream_gene_variant LICA-FR 16 84691034 84691034 single base substitution G A synonymous_variant E207E 621G>A LICA-FR 16 84691034 84691034 single base substitution G A upstream_gene_variant LICA-FR 16 84695556 84695556 single base substitution G A downstream_gene_variant LICA-FR 16 84695556 84695556 single base substitution G A exon_variant LICA-FR 16 84695556 84695556 single base substitution G A stop_gained W493* 1479G>A LICA-FR 16 84695556 84695556 single base substitution G A stop_gained W556* 1668G>A LICA-FR 16 84695682 84695682 single base substitution G A downstream_gene_variant LICA-FR 16 84695682 84695682 single base substitution G A exon_variant LICA-FR 16 84695682 84695682 single base substitution G A synonymous_variant R535R 1605G>A LICA-FR 16 84695682 84695682 single base substitution G A synonymous_variant R598R 1794G>A LICA-FR 16 84702674 84702674 single base substitution G T downstream_gene_variant LICA-FR 16 84702725 84702725 single base substitution T A downstream_gene_variant LINC-JP 16 84690831 84690831 single base substitution G C downstream_gene_variant LINC-JP 16 84690831 84690831 single base substitution G C missense_variant E140Q 418G>C LINC-JP 16 84690831 84690831 single base substitution G C upstream_gene_variant LINC-JP 16 84693458 84693458 single base substitution G A downstream_gene_variant LINC-JP 16 84693458 84693458 single base substitution G A exon_variant LINC-JP 16 84693458 84693458 single base substitution G A intron_variant LINC-JP 16 84693458 84693458 single base substitution G A synonymous_variant A410A 1230G>A LINC-JP 16 84695586 84695586 single base substitution G T downstream_gene_variant LINC-JP 16 84695586 84695586 single base substitution G T exon_variant LINC-JP 16 84695586 84695586 single base substitution G T missense_variant Q503H 1509G>T LINC-JP 16 84695586 84695586 single base substitution G T missense_variant Q566H 1698G>T LINC-JP 16 84695587 84695587 single base substitution G T downstream_gene_variant LINC-JP 16 84695587 84695587 single base substitution G T exon_variant LINC-JP 16 84695587 84695587 single base substitution G T missense_variant V504L 1510G>T LINC-JP 16 84695587 84695587 single base substitution G T missense_variant V567L 1699G>T LINC-JP 16 84705268 84705268 deletion of <=200bp T - downstream_gene_variant LIRI-JP 16 84679587 84679587 single base substitution G A upstream_gene_variant LIRI-JP 16 84681054 84681054 single base substitution A G upstream_gene_variant LIRI-JP 16 84683411 84683411 single base substitution A G intron_variant LIRI-JP 16 84684503 84684503 single base substitution G T synonymous_variant V10V 30G>T LIRI-JP 16 84687176 84687176 single base substitution T C intron_variant LIRI-JP 16 84687176 84687176 single base substitution T C upstream_gene_variant LIRI-JP 16 84692898 84692898 single base substitution C T downstream_gene_variant LIRI-JP 16 84692898 84692898 single base substitution C T exon_variant LIRI-JP 16 84692898 84692898 single base substitution C T intron_variant LIRI-JP 16 84692898 84692898 single base substitution C T upstream_gene_variant LIRI-JP 16 84696913 84696913 single base substitution A G downstream_gene_variant LIRI-JP 16 84696913 84696913 single base substitution A G exon_variant LIRI-JP 16 84700499 84700499 single base substitution A G downstream_gene_variant LIRI-JP 16 84700499 84700499 single base substitution A G exon_variant LIRI-JP 16 84703967 84703967 single base substitution G A downstream_gene_variant LUSC-KR 16 84688449 84688449 single base substitution C T intron_variant LUSC-KR 16 84688449 84688449 single base substitution C T upstream_gene_variant LUSC-KR 16 84691044 84691044 single base substitution C T downstream_gene_variant LUSC-KR 16 84691044 84691044 single base substitution C T synonymous_variant L211L 631C>T LUSC-KR 16 84691044 84691044 single base substitution C T upstream_gene_variant LUSC-KR 16 84691698 84691698 single base substitution C T downstream_gene_variant LUSC-KR 16 84691698 84691698 single base substitution C T exon_variant LUSC-KR 16 84691698 84691698 single base substitution C T intron_variant LUSC-KR 16 84691698 84691698 single base substitution C T upstream_gene_variant LUSC-KR 16 84692992 84692992 single base substitution T C downstream_gene_variant LUSC-KR 16 84692992 84692992 single base substitution T C exon_variant LUSC-KR 16 84692992 84692992 single base substitution T C intron_variant LUSC-KR 16 84692992 84692992 single base substitution T C upstream_gene_variant LUSC-KR 16 84695990 84695990 single base substitution C T downstream_gene_variant LUSC-KR 16 84695990 84695990 single base substitution C T exon_variant LUSC-KR 16 84699609 84699609 single base substitution A G downstream_gene_variant LUSC-KR 16 84699609 84699609 single base substitution A G exon_variant LUSC-KR 16 84700169 84700169 single base substitution C A downstream_gene_variant LUSC-KR 16 84700169 84700169 single base substitution C A exon_variant LUSC-KR 16 84702142 84702142 single base substitution C G downstream_gene_variant LUSC-KR 16 84702743 84702743 single base substitution G T downstream_gene_variant LUSC-KR 16 84703329 84703329 single base substitution A T downstream_gene_variant LUSC-US 16 84691194 84691194 single base substitution G A downstream_gene_variant LUSC-US 16 84691194 84691194 single base substitution G A missense_variant A261T 781G>A LUSC-US 16 84691194 84691194 single base substitution G A upstream_gene_variant MALY-DE 16 84680906 84680906 single base substitution A T upstream_gene_variant MALY-DE 16 84683565 84683565 single base substitution T C intron_variant MALY-DE 16 84693601 84693601 single base substitution C T downstream_gene_variant MALY-DE 16 84693601 84693601 single base substitution C T intron_variant MALY-DE 16 84698626 84698626 single base substitution T G downstream_gene_variant MALY-DE 16 84698626 84698626 single base substitution T G exon_variant MELA-AU 16 84677195 84677195 single base substitution G A upstream_gene_variant MELA-AU 16 84677202 84677202 single base substitution C T upstream_gene_variant MELA-AU 16 84677886 84677886 single base substitution G A upstream_gene_variant MELA-AU 16 84677898 84677898 single base substitution G A upstream_gene_variant MELA-AU 16 84677941 84677941 single base substitution G A upstream_gene_variant MELA-AU 16 84678412 84678413 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 84678729 84678729 single base substitution C T upstream_gene_variant MELA-AU 16 84679044 84679045 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 84679554 84679554 single base substitution T C upstream_gene_variant MELA-AU 16 84680347 84680347 insertion of <=200bp - GA upstream_gene_variant MELA-AU 16 84680428 84680428 single base substitution C T upstream_gene_variant MELA-AU 16 84680593 84680593 single base substitution C T upstream_gene_variant MELA-AU 16 84681554 84681554 single base substitution G A upstream_gene_variant MELA-AU 16 84681802 84681802 single base substitution C T upstream_gene_variant MELA-AU 16 84682209 84682209 single base substitution C T 5_prime_UTR_variant MELA-AU 16 84682209 84682209 single base substitution C T upstream_gene_variant MELA-AU 16 84682903 84682903 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 16 84682903 84682903 single base substitution C T intron_variant MELA-AU 16 84685073 84685073 single base substitution C T intron_variant MELA-AU 16 84685501 84685502 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 16 84686132 84686132 single base substitution C T intron_variant MELA-AU 16 84686217 84686217 single base substitution C T intron_variant MELA-AU 16 84687414 84687414 single base substitution C T intron_variant MELA-AU 16 84687414 84687414 single base substitution C T upstream_gene_variant MELA-AU 16 84687710 84687710 single base substitution A G intron_variant MELA-AU 16 84687710 84687710 single base substitution A G upstream_gene_variant MELA-AU 16 84688269 84688269 single base substitution C T intron_variant MELA-AU 16 84688269 84688269 single base substitution C T upstream_gene_variant MELA-AU 16 84688716 84688716 single base substitution G A intron_variant MELA-AU 16 84688716 84688716 single base substitution G A upstream_gene_variant MELA-AU 16 84688920 84688920 single base substitution G A intron_variant MELA-AU 16 84688920 84688920 single base substitution G A upstream_gene_variant MELA-AU 16 84689041 84689041 single base substitution G A intron_variant MELA-AU 16 84689041 84689041 single base substitution G A upstream_gene_variant MELA-AU 16 84689386 84689387 multiple base substitution (>=2bp and <=200bp) AC GT intron_variant MELA-AU 16 84689386 84689387 multiple base substitution (>=2bp and <=200bp) AC GT upstream_gene_variant MELA-AU 16 84689696 84689696 single base substitution C T intron_variant MELA-AU 16 84689696 84689696 single base substitution C T upstream_gene_variant MELA-AU 16 84689966 84689966 single base substitution C T intron_variant MELA-AU 16 84689966 84689966 single base substitution C T upstream_gene_variant MELA-AU 16 84690848 84690848 single base substitution G A downstream_gene_variant MELA-AU 16 84690848 84690848 single base substitution G A synonymous_variant E145E 435G>A MELA-AU 16 84690848 84690848 single base substitution G A upstream_gene_variant MELA-AU 16 84690965 84690965 single base substitution C T downstream_gene_variant MELA-AU 16 84690965 84690965 single base substitution C T synonymous_variant F184F 552C>T MELA-AU 16 84690965 84690965 single base substitution C T upstream_gene_variant MELA-AU 16 84691135 84691135 single base substitution C T downstream_gene_variant MELA-AU 16 84691135 84691135 single base substitution C T missense_variant P241L 722C>T MELA-AU 16 84691135 84691135 single base substitution C T upstream_gene_variant MELA-AU 16 84691256 84691256 single base substitution C T downstream_gene_variant MELA-AU 16 84691256 84691256 single base substitution C T synonymous_variant P281P 843C>T MELA-AU 16 84691256 84691256 single base substitution C T upstream_gene_variant MELA-AU 16 84691601 84691601 single base substitution C T downstream_gene_variant MELA-AU 16 84691601 84691601 single base substitution C T exon_variant MELA-AU 16 84691601 84691601 single base substitution C T intron_variant MELA-AU 16 84691601 84691601 single base substitution C T upstream_gene_variant MELA-AU 16 84691745 84691745 single base substitution C T downstream_gene_variant MELA-AU 16 84691745 84691745 single base substitution C T exon_variant MELA-AU 16 84691745 84691745 single base substitution C T intron_variant MELA-AU 16 84691745 84691745 single base substitution C T upstream_gene_variant MELA-AU 16 84691753 84691754 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 84691753 84691754 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 16 84691753 84691754 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 84691753 84691754 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 84692596 84692596 single base substitution T C downstream_gene_variant MELA-AU 16 84692596 84692596 single base substitution T C exon_variant MELA-AU 16 84692596 84692596 single base substitution T C intron_variant MELA-AU 16 84692596 84692596 single base substitution T C upstream_gene_variant MELA-AU 16 84692913 84692913 single base substitution C T downstream_gene_variant MELA-AU 16 84692913 84692913 single base substitution C T exon_variant MELA-AU 16 84692913 84692913 single base substitution C T intron_variant MELA-AU 16 84692913 84692913 single base substitution C T upstream_gene_variant MELA-AU 16 84693046 84693046 single base substitution C T downstream_gene_variant MELA-AU 16 84693046 84693046 single base substitution C T exon_variant MELA-AU 16 84693046 84693046 single base substitution C T intron_variant MELA-AU 16 84693046 84693046 single base substitution C T upstream_gene_variant MELA-AU 16 84693373 84693373 single base substitution C T downstream_gene_variant MELA-AU 16 84693373 84693373 single base substitution C T exon_variant MELA-AU 16 84693373 84693373 single base substitution C T intron_variant MELA-AU 16 84693373 84693373 single base substitution C T missense_variant S382F 1145C>T MELA-AU 16 84693414 84693414 single base substitution G A downstream_gene_variant MELA-AU 16 84693414 84693414 single base substitution G A exon_variant MELA-AU 16 84693414 84693414 single base substitution G A intron_variant MELA-AU 16 84693414 84693414 single base substitution G A missense_variant E396K 1186G>A MELA-AU 16 84694059 84694059 single base substitution G A downstream_gene_variant MELA-AU 16 84694059 84694059 single base substitution G A intron_variant MELA-AU 16 84694274 84694274 single base substitution C T downstream_gene_variant MELA-AU 16 84694274 84694274 single base substitution C T intron_variant MELA-AU 16 84694874 84694874 single base substitution C T downstream_gene_variant MELA-AU 16 84694874 84694874 single base substitution C T intron_variant MELA-AU 16 84695467 84695467 single base substitution A G downstream_gene_variant MELA-AU 16 84695467 84695467 single base substitution A G exon_variant MELA-AU 16 84695467 84695467 single base substitution A G missense_variant T464A 1390A>G MELA-AU 16 84695467 84695467 single base substitution A G missense_variant T527A 1579A>G MELA-AU 16 84695975 84695975 single base substitution C T downstream_gene_variant MELA-AU 16 84695975 84695975 single base substitution C T exon_variant MELA-AU 16 84696182 84696182 single base substitution C T downstream_gene_variant MELA-AU 16 84696182 84696182 single base substitution C T exon_variant MELA-AU 16 84697013 84697013 single base substitution G A downstream_gene_variant MELA-AU 16 84697013 84697013 single base substitution G A exon_variant MELA-AU 16 84697496 84697496 single base substitution T C downstream_gene_variant MELA-AU 16 84697496 84697496 single base substitution T C exon_variant MELA-AU 16 84698242 84698242 single base substitution C T downstream_gene_variant MELA-AU 16 84698242 84698242 single base substitution C T exon_variant MELA-AU 16 84698353 84698354 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 84698353 84698354 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 16 84698806 84698806 single base substitution C T downstream_gene_variant MELA-AU 16 84698806 84698806 single base substitution C T exon_variant MELA-AU 16 84699273 84699273 single base substitution C T downstream_gene_variant MELA-AU 16 84699273 84699273 single base substitution C T exon_variant MELA-AU 16 84699500 84699500 single base substitution C T downstream_gene_variant MELA-AU 16 84699500 84699500 single base substitution C T exon_variant MELA-AU 16 84700236 84700236 single base substitution C T downstream_gene_variant MELA-AU 16 84700236 84700236 single base substitution C T exon_variant MELA-AU 16 84700395 84700395 single base substitution C T downstream_gene_variant MELA-AU 16 84700395 84700395 single base substitution C T exon_variant MELA-AU 16 84700508 84700508 single base substitution C T downstream_gene_variant MELA-AU 16 84700508 84700508 single base substitution C T exon_variant MELA-AU 16 84701658 84701658 single base substitution C T downstream_gene_variant MELA-AU 16 84702290 84702290 single base substitution C T downstream_gene_variant MELA-AU 16 84702443 84702443 single base substitution C T downstream_gene_variant MELA-AU 16 84704158 84704158 single base substitution C T downstream_gene_variant MELA-AU 16 84704684 84704684 single base substitution A T downstream_gene_variant MELA-AU 16 84705097 84705097 single base substitution C T downstream_gene_variant MELA-AU 16 84705230 84705230 single base substitution G A downstream_gene_variant MELA-AU 16 84705405 84705405 single base substitution G A downstream_gene_variant MELA-AU 16 84705557 84705557 single base substitution C T downstream_gene_variant MELA-AU 16 84705749 84705749 single base substitution G A downstream_gene_variant MELA-AU 16 84705780 84705780 single base substitution G A downstream_gene_variant ORCA-IN 16 84682779 84682779 single base substitution C G 5_prime_UTR_variant ORCA-IN 16 84682779 84682779 single base substitution C G intron_variant ORCA-IN 16 84690831 84690831 single base substitution G C downstream_gene_variant ORCA-IN 16 84690831 84690831 single base substitution G C missense_variant E140Q 418G>C ORCA-IN 16 84690831 84690831 single base substitution G C upstream_gene_variant ORCA-IN 16 84693365 84693365 single base substitution G T downstream_gene_variant ORCA-IN 16 84693365 84693365 single base substitution G T exon_variant ORCA-IN 16 84693365 84693365 single base substitution G T intron_variant ORCA-IN 16 84693365 84693365 single base substitution G T splice_acceptor_variant ORCA-IN 16 84695681 84695681 single base substitution G T downstream_gene_variant ORCA-IN 16 84695681 84695681 single base substitution G T exon_variant ORCA-IN 16 84695681 84695681 single base substitution G T missense_variant R535L 1604G>T ORCA-IN 16 84695681 84695681 single base substitution G T missense_variant R598L 1793G>T OV-AU 16 84684330 84684330 single base substitution G C intron_variant OV-AU 16 84686299 84686299 single base substitution C A intron_variant OV-AU 16 84686309 84686309 single base substitution G A intron_variant OV-AU 16 84694804 84694804 single base substitution C G downstream_gene_variant OV-AU 16 84694804 84694804 single base substitution C G intron_variant OV-AU 16 84700384 84700384 single base substitution G C downstream_gene_variant OV-AU 16 84700384 84700384 single base substitution G C exon_variant OV-AU 16 84704102 84704102 single base substitution G A downstream_gene_variant OV-AU 16 84704220 84704220 single base substitution G C downstream_gene_variant PACA-AU 16 84677779 84677779 single base substitution G A upstream_gene_variant PACA-AU 16 84684508 84684508 single base substitution G A missense_variant R12Q 35G>A PACA-AU 16 84685404 84685404 single base substitution G C intron_variant PACA-AU 16 84691088 84691088 single base substitution G C downstream_gene_variant PACA-AU 16 84691088 84691088 single base substitution G C missense_variant E225D 675G>C PACA-AU 16 84691088 84691088 single base substitution G C upstream_gene_variant PACA-AU 16 84695234 84695234 single base substitution C T downstream_gene_variant PACA-AU 16 84695234 84695234 single base substitution C T exon_variant PACA-AU 16 84695234 84695234 single base substitution C T missense_variant S386L 1157C>T PACA-AU 16 84695234 84695234 single base substitution C T missense_variant S449L 1346C>T PACA-AU 16 84702900 84702900 deletion of <=200bp T - downstream_gene_variant PACA-AU 16 84703691 84703691 single base substitution G T downstream_gene_variant PACA-CA 16 84679740 84679764 deletion of <=200bp TAGGCTCTACAGCGAAATCTCTTGT - upstream_gene_variant PACA-CA 16 84690093 84690093 single base substitution C G intron_variant PACA-CA 16 84690093 84690093 single base substitution C G upstream_gene_variant PACA-CA 16 84691400 84691400 single base substitution G A downstream_gene_variant PACA-CA 16 84691400 84691400 single base substitution G A synonymous_variant T329T 987G>A PACA-CA 16 84691400 84691400 single base substitution G A upstream_gene_variant PACA-CA 16 84695156 84695156 single base substitution C A downstream_gene_variant PACA-CA 16 84695156 84695156 single base substitution C A intron_variant PACA-CA 16 84695868 84695868 single base substitution G T 3_prime_UTR_variant PACA-CA 16 84695868 84695868 single base substitution G T exon_variant PACA-CA 16 84698748 84698748 single base substitution A G downstream_gene_variant PACA-CA 16 84698748 84698748 single base substitution A G exon_variant PACA-CA 16 84702266 84702266 single base substitution C T downstream_gene_variant PACA-CA 16 84704139 84704139 single base substitution G A downstream_gene_variant PAEN-AU 16 84690811 84690811 single base substitution A T downstream_gene_variant PAEN-AU 16 84690811 84690811 single base substitution A T missense_variant D133V 398A>T PAEN-AU 16 84690811 84690811 single base substitution A T upstream_gene_variant PBCA-DE 16 84680181 84680181 single base substitution G A upstream_gene_variant PBCA-DE 16 84681943 84681943 single base substitution G A upstream_gene_variant PBCA-DE 16 84698208 84698208 single base substitution C G downstream_gene_variant PBCA-DE 16 84698208 84698208 single base substitution C G exon_variant PBCA-DE 16 84698673 84698673 single base substitution G A downstream_gene_variant PBCA-DE 16 84698673 84698673 single base substitution G A exon_variant PBCA-DE 16 84700387 84700387 single base substitution C T downstream_gene_variant PBCA-DE 16 84700387 84700387 single base substitution C T exon_variant PBCA-DE 16 84700650 84700650 single base substitution C A downstream_gene_variant PBCA-DE 16 84700650 84700650 single base substitution C A exon_variant PBCA-DE 16 84703284 84703284 single base substitution C A downstream_gene_variant PBCA-DE 16 84704099 84704099 single base substitution A C downstream_gene_variant PRAD-CA 16 84677722 84677722 single base substitution A G upstream_gene_variant PRAD-CA 16 84677726 84677726 single base substitution A G upstream_gene_variant PRAD-CA 16 84677730 84677730 single base substitution A G upstream_gene_variant PRAD-CA 16 84677795 84677795 single base substitution A G upstream_gene_variant PRAD-UK 16 84705726 84705726 single base substitution G T downstream_gene_variant PRAD-US 16 84690912 84690912 single base substitution A G downstream_gene_variant PRAD-US 16 84690912 84690912 single base substitution A G missense_variant I167V 499A>G PRAD-US 16 84690912 84690912 single base substitution A G upstream_gene_variant PRAD-US 16 84693388 84693388 single base substitution G A downstream_gene_variant PRAD-US 16 84693388 84693388 single base substitution G A exon_variant PRAD-US 16 84693388 84693388 single base substitution G A intron_variant PRAD-US 16 84693388 84693388 single base substitution G A missense_variant R387H 1160G>A READ-US 16 84695234 84695234 insertion of <=200bp - G downstream_gene_variant READ-US 16 84695234 84695234 insertion of <=200bp - G exon_variant READ-US 16 84695234 84695234 insertion of <=200bp - G frameshift_variant S386C? READ-US 16 84695234 84695234 insertion of <=200bp - G frameshift_variant S449C? RECA-EU 16 84684938 84684938 single base substitution G A intron_variant RECA-EU 16 84691104 84691104 single base substitution G A downstream_gene_variant RECA-EU 16 84691104 84691104 single base substitution G A missense_variant V231M 691G>A RECA-EU 16 84691104 84691104 single base substitution G A upstream_gene_variant RECA-EU 16 84703601 84703601 single base substitution T C downstream_gene_variant RECA-EU 16 84705274 84705274 single base substitution T A downstream_gene_variant SKCA-BR 16 84677710 84677726 deletion of <=200bp GAAGAAAGAAAGAAAGA - upstream_gene_variant SKCA-BR 16 84677710 84677730 deletion of <=200bp GAAGAAAGAAAGAAAGAAAGA - upstream_gene_variant SKCA-BR 16 84677714 84677714 single base substitution A G upstream_gene_variant SKCA-BR 16 84677745 84677767 deletion of <=200bp GAAAGAAAGAAAGAAAGAAAGAA - upstream_gene_variant SKCA-BR 16 84677757 84677775 deletion of <=200bp GAAAGAAAGAAAGAAAGAA - upstream_gene_variant SKCA-BR 16 84678730 84678730 single base substitution C T upstream_gene_variant SKCA-BR 16 84680901 84680901 single base substitution G A upstream_gene_variant SKCA-BR 16 84683588 84683588 single base substitution A C intron_variant SKCA-BR 16 84689330 84689330 single base substitution C T intron_variant SKCA-BR 16 84689330 84689330 single base substitution C T upstream_gene_variant SKCA-BR 16 84691214 84691214 single base substitution C T downstream_gene_variant SKCA-BR 16 84691214 84691214 single base substitution C T synonymous_variant I267I 801C>T SKCA-BR 16 84691214 84691214 single base substitution C T upstream_gene_variant SKCA-BR 16 84693105 84693105 single base substitution C T downstream_gene_variant SKCA-BR 16 84693105 84693105 single base substitution C T exon_variant SKCA-BR 16 84693105 84693105 single base substitution C T intron_variant SKCA-BR 16 84693105 84693105 single base substitution C T upstream_gene_variant SKCA-BR 16 84694198 84694198 single base substitution G C downstream_gene_variant SKCA-BR 16 84694198 84694198 single base substitution G C intron_variant SKCA-BR 16 84694275 84694275 single base substitution T C downstream_gene_variant SKCA-BR 16 84694275 84694275 single base substitution T C intron_variant SKCA-BR 16 84696559 84696559 single base substitution C T downstream_gene_variant SKCA-BR 16 84696559 84696559 single base substitution C T exon_variant SKCA-BR 16 84700675 84700675 insertion of <=200bp - AAAAAGAAAAG downstream_gene_variant SKCA-BR 16 84700675 84700675 insertion of <=200bp - AAAAAGAAAAG exon_variant SKCA-BR 16 84704040 84704040 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 16 84704528 84704528 single base substitution C T downstream_gene_variant SKCA-BR 16 84705394 84705394 single base substitution C T downstream_gene_variant SKCA-BR 16 84706196 84706196 single base substitution A C downstream_gene_variant SKCM-US 16 84690632 84690632 single base substitution C T downstream_gene_variant SKCM-US 16 84690632 84690632 single base substitution C T synonymous_variant S73S 219C>T SKCM-US 16 84690632 84690632 single base substitution C T upstream_gene_variant SKCM-US 16 84690691 84690691 single base substitution C T downstream_gene_variant SKCM-US 16 84690691 84690691 single base substitution C T missense_variant S93F 278C>T SKCM-US 16 84690691 84690691 single base substitution C T upstream_gene_variant SKCM-US 16 84690709 84690709 single base substitution C T downstream_gene_variant SKCM-US 16 84690709 84690709 single base substitution C T missense_variant A99V 296C>T SKCM-US 16 84690709 84690709 single base substitution C T upstream_gene_variant SKCM-US 16 84691090 84691090 single base substitution C T downstream_gene_variant SKCM-US 16 84691090 84691090 single base substitution C T missense_variant A226V 677C>T SKCM-US 16 84691090 84691090 single base substitution C T upstream_gene_variant SKCM-US 16 84691333 84691333 single base substitution G A downstream_gene_variant SKCM-US 16 84691333 84691333 single base substitution G A missense_variant R307Q 920G>A SKCM-US 16 84691333 84691333 single base substitution G A upstream_gene_variant SKCM-US 16 84691408 84691408 single base substitution C T downstream_gene_variant SKCM-US 16 84691408 84691408 single base substitution C T missense_variant P332L 995C>T SKCM-US 16 84691408 84691408 single base substitution C T upstream_gene_variant SKCM-US 16 84695403 84695403 single base substitution C T downstream_gene_variant SKCM-US 16 84695403 84695403 single base substitution C T exon_variant SKCM-US 16 84695403 84695403 single base substitution C T synonymous_variant I442I 1326C>T SKCM-US 16 84695403 84695403 single base substitution C T synonymous_variant I505I 1515C>T SKCM-US 16 84695527 84695527 single base substitution C T downstream_gene_variant SKCM-US 16 84695527 84695527 single base substitution C T exon_variant SKCM-US 16 84695527 84695527 single base substitution C T missense_variant R484C 1450C>T SKCM-US 16 84695527 84695527 single base substitution C T missense_variant R547C 1639C>T STAD-US 16 84684525 84684525 single base substitution G A missense_variant E18K 52G>A STAD-US 16 84690609 84690609 single base substitution G A downstream_gene_variant STAD-US 16 84690609 84690609 single base substitution G A missense_variant V66M 196G>A STAD-US 16 84690609 84690609 single base substitution G A upstream_gene_variant STAD-US 16 84690621 84690621 single base substitution T C downstream_gene_variant STAD-US 16 84690621 84690621 single base substitution T C missense_variant Y70H 208T>C STAD-US 16 84690621 84690621 single base substitution T C upstream_gene_variant STAD-US 16 84690644 84690644 single base substitution C T downstream_gene_variant STAD-US 16 84690644 84690644 single base substitution C T synonymous_variant I77I 231C>T STAD-US 16 84690644 84690644 single base substitution C T upstream_gene_variant STAD-US 16 84690684 84690684 single base substitution G A downstream_gene_variant STAD-US 16 84690684 84690684 single base substitution G A missense_variant G91S 271G>A STAD-US 16 84690684 84690684 single base substitution G A upstream_gene_variant STAD-US 16 84690728 84690728 single base substitution C T downstream_gene_variant STAD-US 16 84690728 84690728 single base substitution C T synonymous_variant Y105Y 315C>T STAD-US 16 84690728 84690728 single base substitution C T upstream_gene_variant STAD-US 16 84690914 84690914 single base substitution C T downstream_gene_variant STAD-US 16 84690914 84690914 single base substitution C T synonymous_variant I167I 501C>T STAD-US 16 84690914 84690914 single base substitution C T upstream_gene_variant STAD-US 16 84691224 84691224 single base substitution G A downstream_gene_variant STAD-US 16 84691224 84691224 single base substitution G A missense_variant V271M 811G>A STAD-US 16 84691224 84691224 single base substitution G A upstream_gene_variant STAD-US 16 84693458 84693458 single base substitution G A downstream_gene_variant STAD-US 16 84693458 84693458 single base substitution G A exon_variant STAD-US 16 84693458 84693458 single base substitution G A intron_variant STAD-US 16 84693458 84693458 single base substitution G A synonymous_variant A410A 1230G>A STAD-US 16 84695452 84695452 single base substitution C T downstream_gene_variant STAD-US 16 84695452 84695452 single base substitution C T exon_variant STAD-US 16 84695452 84695452 single base substitution C T stop_gained Q459* 1375C>T STAD-US 16 84695452 84695452 single base substitution C T stop_gained Q522* 1564C>T STAD-US 16 84695477 84695477 single base substitution C T downstream_gene_variant STAD-US 16 84695477 84695477 single base substitution C T exon_variant STAD-US 16 84695477 84695477 single base substitution C T missense_variant A467V 1400C>T STAD-US 16 84695477 84695477 single base substitution C T missense_variant A530V 1589C>T STAD-US 16 84695605 84695605 single base substitution G A downstream_gene_variant STAD-US 16 84695605 84695605 single base substitution G A exon_variant STAD-US 16 84695605 84695605 single base substitution G A missense_variant D510N 1528G>A STAD-US 16 84695605 84695605 single base substitution G A missense_variant D573N 1717G>A THCA-SA 16 84690684 84690684 single base substitution G A downstream_gene_variant THCA-SA 16 84690684 84690684 single base substitution G A missense_variant G91S 271G>A THCA-SA 16 84690684 84690684 single base substitution G A upstream_gene_variant THCA-SA 16 84691044 84691044 single base substitution C T downstream_gene_variant THCA-SA 16 84691044 84691044 single base substitution C T synonymous_variant L211L 631C>T THCA-SA 16 84691044 84691044 single base substitution C T upstream_gene_variant UCEC-US 16 84684524 84684524 single base substitution C T synonymous_variant S17S 51C>T UCEC-US 16 84690772 84690772 single base substitution T C downstream_gene_variant UCEC-US 16 84690772 84690772 single base substitution T C missense_variant L120P 359T>C UCEC-US 16 84690772 84690772 single base substitution T C upstream_gene_variant UCEC-US 16 84690858 84690858 single base substitution C A downstream_gene_variant UCEC-US 16 84690858 84690858 single base substitution C A missense_variant L149M 445C>A UCEC-US 16 84690858 84690858 single base substitution C A upstream_gene_variant UCEC-US 16 84691038 84691038 single base substitution G A downstream_gene_variant UCEC-US 16 84691038 84691038 single base substitution G A missense_variant D209N 625G>A UCEC-US 16 84691038 84691038 single base substitution G A upstream_gene_variant UCEC-US 16 84691344 84691344 single base substitution C T downstream_gene_variant UCEC-US 16 84691344 84691344 single base substitution C T missense_variant L311F 931C>T UCEC-US 16 84691344 84691344 single base substitution C T upstream_gene_variant UCEC-US 16 84693479 84693479 single base substitution C T downstream_gene_variant UCEC-US 16 84693479 84693479 single base substitution C T exon_variant UCEC-US 16 84693479 84693479 single base substitution C T intron_variant UCEC-US 16 84693479 84693479 single base substitution C T synonymous_variant Y417Y 1251C>T UCEC-US 16 84695223 84695223 single base substitution C T downstream_gene_variant UCEC-US 16 84695223 84695223 single base substitution C T exon_variant UCEC-US 16 84695223 84695223 single base substitution C T synonymous_variant F382F 1146C>T UCEC-US 16 84695223 84695223 single base substitution C T synonymous_variant F445F 1335C>T UCEC-US 16 84695491 84695491 single base substitution G A downstream_gene_variant UCEC-US 16 84695491 84695491 single base substitution G A exon_variant UCEC-US 16 84695491 84695491 single base substitution G A missense_variant A472T 1414G>A UCEC-US 16 84695491 84695491 single base substitution G A missense_variant A535T 1603G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHEWS009 COSM4579339 c.553C>T p.L185L Substitution - coding silent 16:84657360-84657360 + TCGA-EE-A2GJ-06 COSM3513016 c.296C>T p.A99V Substitution - Missense 16:84657103-84657103 + CHC892T COSM4959437 c.1794G>A p.R598R Substitution - coding silent 16:84662076-84662076 + BD165T COSM1380221 c.1448G>A p.R483H Substitution - Missense 16:84661730-84661730 + PCSI_0090_Pa_X COSM3378012 c.987G>A p.T329T Substitution - coding silent 16:84657794-84657794 + T4 COSM435879 c.1392A>G p.L464L Substitution - coding silent 16:84661674-84661674 + TCGA-GN-A263-01 COSM3513018 c.920G>A p.R307Q Substitution - Missense 16:84657727-84657727 + C106 COSM4616217 c.148C>T p.L50L Substitution - coding silent 16:84656955-84656955 + 587342 COSM1212659 c.1000C>T p.R334W Substitution - Missense 16:84657807-84657807 + TCGA-AA-3492-01 COSM1380223 c.1591C>T p.P531S Substitution - Missense 16:84661873-84661873 + LUAD-F00282 COSM367166 c.239G>T p.R80L Substitution - Missense 16:84657046-84657046 + ESO-081 COSM1243359 c.112G>A p.E38K Substitution - Missense 16:84656919-84656919 + BN02T COSM1609734 c.1698G>T p.Q566H Substitution - Missense 16:84661980-84661980 + HCC76T COSM3717119 c.418G>C p.E140Q Substitution - Missense 16:84657225-84657225 + T2944 COSM2694683 c.1353C>G p.G451G Substitution - coding silent 16:84661635-84661635 + TCGA-BR-8368-01 COSM4063310 c.1564C>T p.Q522* Substitution - Nonsense 16:84661846-84661846 + PD4116a COSM5768352 c.119G>A p.R40H Substitution - Missense 16:84656926-84656926 + 12T COSM108312 c.854C>T p.T285I Substitution - Missense 16:84657661-84657661 + T3090 COSM4696552 c.1546G>A p.V516M Substitution - Missense 16:84661828-84661828 + TCGA-AP-A059-01 COSM974416 c.51C>T p.S17S Substitution - coding silent 16:84650918-84650918 + LIM2551 COSM4644030 c.1817G>A p.G606D Substitution - Missense 16:84662099-84662099 + T3262 COSM4696550 c.1311C>T p.H437H Substitution - coding silent 16:84661593-84661593 + EGC8 COSM5055148 c.1469G>A p.S490N Substitution - Missense 16:84661751-84661751 + pfg057T COSM4758320 c.1621G>A p.V541M Substitution - Missense 16:84661903-84661903 + S02385 COSM5698817 c.205G>T p.D69Y Substitution - Missense 16:84657012-84657012 + NCI-H460 COSM1196952 c.1585G>A p.V529M Substitution - Missense 16:84661867-84661867 + ESCC_57 COSM5632321 c.267G>C p.L89L Substitution - coding silent 16:84657074-84657074 + LP6005334-DNA_C03 COSM5036552 c.1530C>T p.R510R Substitution - coding silent 16:84661812-84661812 + Pat_11_B COSM5851643 c.1181C>T p.S394F Substitution - Missense 16:84659803-84659803 + OSCC-GB_00530111 COSM4883325 c.1138-1G>T p.? Unknown 16:84659759-84659759 + BN02 COSM1609734 c.1698G>T p.Q566H Substitution - Missense 16:84661980-84661980 + PD7219a COSM5801309 c.1029_1030insG p.F346fs*24 Insertion - Frameshift 16:84657836-84657837 + TCGA-CK-5913-01 COSM1380222 c.1516G>A p.E506K Substitution - Missense 16:84661798-84661798 + NPC15F COSM4995695 c.1792C>T p.R598W Substitution - Missense 16:84662074-84662074 + CSCC-31-T COSM4470064 c.1638C>T p.G546G Substitution - coding silent 16:84661920-84661920 + T2932 COSM4696548 c.715C>T p.L239F Substitution - Missense 16:84657522-84657522 + HN_62739 COSM128346 c.693G>A p.V231V Substitution - coding silent 16:84657500-84657500 + Pat_70_A COSM5851641 c.433G>A p.E145K Substitution - Missense 16:84657240-84657240 + 35M COSM5581495 c.1283C>T p.A428V Substitution - Missense 16:84659905-84659905 + C0052T COSM4151441 c.691G>A p.V231M Substitution - Missense 16:84657498-84657498 + TCGA-EE-A2GR-06 COSM3513015 c.278C>T p.S93F Substitution - Missense 16:84657085-84657085 + TCGA-AM-5821-01 COSM435878 c.631C>T p.L211L Substitution - coding silent 16:84657438-84657438 + Gp2D COSM2694670 c.834G>A p.A278A Substitution - coding silent 16:84657641-84657641 + 31T COSM3712119 c.1793G>T p.R598L Substitution - Missense 16:84662075-84662075 + BN02 COSM1609735 c.1699G>T p.V567L Substitution - Missense 16:84661981-84661981 + TCGA-EJ-7125-01 COSM3672332 c.1406G>T p.R469L Substitution - Missense 16:84661688-84661688 + TCGA-06-0155 COSM2149985 c.1212_1213delCC p.R405fs*2 Deletion - Frameshift 16:84659834-84659835 + TCGA-EK-A3GK-01 COSM4852674 c.576G>C p.K192N Substitution - Missense 16:84657383-84657383 + PDA_062 COSM5001201 c.538T>G p.F180V Substitution - Missense 16:84657345-84657345 + TCGA-BR-8363-01 COSM4063306 c.231C>T p.I77I Substitution - coding silent 16:84657038-84657038 + Gp2D COSM2694654 c.194C>T p.A65V Substitution - Missense 16:84657001-84657001 + CHC892T COSM1741562 c.1668G>A p.W556* Substitution - Nonsense 16:84661950-84661950 + TCGA-GN-A267-06 COSM3513019 c.995C>T p.P332L Substitution - Missense 16:84657802-84657802 + BN02T COSM1609735 c.1699G>T p.V567L Substitution - Missense 16:84661981-84661981 + Pat_41_A COSM5851639 c.252G>C p.Q84H Substitution - Missense 16:84657059-84657059 + T4 COSM3755149 c.1602C>T p.H534H Substitution - coding silent 16:84661884-84661884 + 66 COSM5743794 c.1708C>T p.R570C Substitution - Missense 16:84661990-84661990 + ESCC_BICR_070T COSM5444933 c.397G>C p.D133H Substitution - Missense 16:84657204-84657204 + T3094 COSM4696551 c.1336G>A p.V446M Substitution - Missense 16:84661618-84661618 + TCGA-FS-A1Z3-06 COSM3513014 c.219C>T p.S73S Substitution - coding silent 16:84657026-84657026 + PTC-515C COSM435878 c.631C>T p.L211L Substitution - coding silent 16:84657438-84657438 + TCGA-AP-A059-01 COSM974418 c.445C>A p.L149M Substitution - Missense 16:84657252-84657252 + 587342 COSM1212660 c.1583G>A p.R528H Substitution - Missense 16:84661865-84661865 + 587278 COSM1212657 c.1840C>T p.R614W Substitution - Missense 16:84662122-84662122 + YUQUEST COSM5385503 c.1524G>A p.M508I Substitution - Missense 16:84661806-84661806 + 8057643 COSM4138122 c.398A>T p.D133V Substitution - Missense 16:84657205-84657205 + 587332 COSM1212658 c.1556A>G p.Y519C Substitution - Missense 16:84661838-84661838 + TCGA-AP-A0LM-01 COSM974419 c.625G>A p.D209N Substitution - Missense 16:84657432-84657432 + 19 COSM5747773 c.824A>G p.N275S Substitution - Missense 16:84657631-84657631 + 61 COSM1380217 c.863C>T p.T288M Substitution - Missense 16:84657670-84657670 + CN-AML-CR-1-Dx COSM3999964 c.64-10C>T p.? Unknown 16:84656861-84656861 + 250LT COSM4382880 c.45G>C p.K15N Substitution - Missense 16:84650912-84650912 + DN1205A COSM5782878 c.1620C>T p.G540G Substitution - coding silent 16:84661902-84661902 + BN26 COSM1609733 c.1230G>A p.A410A Substitution - coding silent 16:84659852-84659852 + BD124T COSM5493472 c.966C>T p.S322S Substitution - coding silent 16:84657773-84657773 + S02354 COSM5695564 c.935G>T p.S312I Substitution - Missense 16:84657742-84657742 + CSCC-31-T COSM4458523 c.1089C>T p.A363A Substitution - coding silent 16:84657896-84657896 + PTC-14C COSM4129440 c.245C>A p.A82D Substitution - Missense 16:84657052-84657052 + SH-4885 COSM4063311 c.1589C>T p.A530V Substitution - Missense 16:84661871-84661871 + TCGA-D3-A3ML-06 COSM3513017 c.677C>T p.A226V Substitution - Missense 16:84657484-84657484 + TCGA-F4-6463-01 COSM435878 c.631C>T p.L211L Substitution - coding silent 16:84657438-84657438 + TCGA-CM-6170-01 COSM1380217 c.863C>T p.T288M Substitution - Missense 16:84657670-84657670 + TCGA-BR-4361-01 COSM4063312 c.1717G>A p.D573N Substitution - Missense 16:84661999-84661999 + TCGA-BL-A13I-01 COSM417242 c.48C>T p.I16I Substitution - coding silent 16:84650915-84650915 + M018 COSM1740238 c.1426C>T p.R476W Substitution - Missense 16:84661708-84661708 + ESCC_127 COSM5641475 c.157G>A p.D53N Substitution - Missense 16:84656964-84656964 + KPOPBR-27-T COSM5966072 c.241G>A p.E81K Substitution - Missense 16:84657048-84657048 + SS6003320 COSM3980242 c.957C>T p.D319D Substitution - coding silent 16:84657764-84657764 + BN26T COSM1609733 c.1230G>A p.A410A Substitution - coding silent 16:84659852-84659852 + sysucc-1317T COSM5448922 c.1003C>T p.R335W Substitution - Missense 16:84657810-84657810 + TCGA-AZ-4615-01 COSM3755149 c.1602C>T p.H534H Substitution - coding silent 16:84661884-84661884 + HCC76 COSM3717119 c.418G>C p.E140Q Substitution - Missense 16:84657225-84657225 + LUAD-S01315 COSM344472 c.1206C>T p.I402I Substitution - coding silent 16:84659828-84659828 + TCGA-D7-A4YV-01 COSM4063304 c.196G>A p.V66M Substitution - Missense 16:84657003-84657003 + PD11347a COSM5782878 c.1620C>T p.G540G Substitution - coding silent 16:84661902-84661902 + HSJD_DIPG004 COSM4746161 c.1711G>C p.E571Q Substitution - Missense 16:84661993-84661993 + TCGA-CM-5861-01 COSM1380218 c.1029delG p.G345fs*39 Deletion - Frameshift 16:84657836-84657836 + TCGA-33-4582-01 COSM704527 c.781G>A p.A261T Substitution - Missense 16:84657588-84657588 + TCGA-A8-A09R-01 COSM1563460 c.1346_1347insG p.H452fs*42 Insertion - Frameshift 16:84661628-84661629 + CHC892T COSM4959437 c.1794G>A p.R598R Substitution - coding silent 16:84662076-84662076 + TCGA-AP-A056-01 COSM974422 c.1335C>T p.F445F Substitution - coding silent 16:84661617-84661617 + RK037_C01 COSM1630020 c.30G>T p.V10V Substitution - coding silent 16:84650897-84650897 + TCGA-HU-A4GT-01 COSM4063308 c.315C>T p.Y105Y Substitution - coding silent 16:84657122-84657122 + 12T COSM109296 c.855C>A p.T285T Substitution - coding silent 16:84657662-84657662 + H460 COSM1196952 c.1585G>A p.V529M Substitution - Missense 16:84661867-84661867 + CHC892T COSM4795287 c.621G>A p.E207E Substitution - coding silent 16:84657428-84657428 + TCGA-G4-6588-01 COSM1380220 c.1317C>T p.G439G Substitution - coding silent 16:84661599-84661599 + TCGA-BR-8077-01 COSM1609733 c.1230G>A p.A410A Substitution - coding silent 16:84659852-84659852 + TCGA-BR-8372-01 COSM4063311 c.1589C>T p.A530V Substitution - Missense 16:84661871-84661871 + TCGA-D1-A177-01 COSM974420 c.931C>T p.L311F Substitution - Missense 16:84657738-84657738 + TCGA-KK-A59V-01 COSM4878249 c.1160G>A p.R387H Substitution - Missense 16:84659782-84659782 + GC_353T-GC_353N COSM4773531 c.691G>T p.V231L Substitution - Missense 16:84657498-84657498 + BD236T COSM5519410 c.166C>T p.R56C Substitution - Missense 16:84656973-84656973 + TCGA-CG-4465-01 COSM4063307 c.271G>A p.G91S Substitution - Missense 16:84657078-84657078 + SNUH_G10_S1 COSM3999964 c.64-10C>T p.? Unknown 16:84656861-84656861 + SCMC_RM2_ COSM974419 c.625G>A p.D209N Substitution - Missense 16:84657432-84657432 + YUGOE COSM1709475 c.914_915CC>TT p.S305F Substitution - Missense 16:84657721-84657722 + TCGA-HU-8604-01 COSM2694660 c.501C>T p.I167I Substitution - coding silent 16:84657308-84657308 + TCGA-EJ-7782-01 COSM3782997 c.499A>G p.I167V Substitution - Missense 16:84657306-84657306 + TCGA-FS-A1ZR-06 COSM3513021 c.1639C>T p.R547C Substitution - Missense 16:84661921-84661921 + 188 COSM1741562 c.1668G>A p.W556* Substitution - Nonsense 16:84661950-84661950 + 8012210 COSM218504 c.35G>A p.R12Q Substitution - Missense 16:84650902-84650902 + PTC_340 COSM4063307 c.271G>A p.G91S Substitution - Missense 16:84657078-84657078 + TCGA-AP-A059-01 COSM974421 c.1251C>T p.Y417Y Substitution - coding silent 16:84659873-84659873 + TCGA-32-4211-01 COSM3748006 c.809C>A p.A270D Substitution - Missense 16:84657616-84657616 + TCGA-C5-A1BQ-01 COSM2694684 c.1494C>T p.I498I Substitution - coding silent 16:84661776-84661776 + TCGA-D1-A176-01 COSM974423 c.1603G>A p.A535T Substitution - Missense 16:84661885-84661885 + TCGA-BH-A203-01 COSM1479143 c.303G>A p.V101V Substitution - coding silent 16:84657110-84657110 + TCGA-BR-8081-01 COSM4063303 c.52G>A p.E18K Substitution - Missense 16:84650919-84650919 + TCGA-D1-A17A-01 COSM974417 c.359T>C p.L120P Substitution - Missense 16:84657166-84657166 + TCGA-AD-6964-01 COSM1380219 c.1284C>T p.A428A Substitution - coding silent 16:84659906-84659906 + PDA_106 COSM4129440 c.245C>A p.A82D Substitution - Missense 16:84657052-84657052 + I2L-P19Ta-Tumor-Biopsy COSM2694672 c.844G>A p.V282I Substitution - Missense 16:84657651-84657651 + CRC-03T COSM5451411 c.1286G>A p.G429D Substitution - Missense 16:84659908-84659908 + Gp5D COSM2694654 c.194C>T p.A65V Substitution - Missense 16:84657001-84657001 + CSCC-17-T COSM4461882 c.1224C>T p.N408N Substitution - coding silent 16:84659846-84659846 + LUAD-F00368 COSM391738 c.1444_1445delGC p.G484fs*9 Deletion - Frameshift 16:84661726-84661727 + TARGET-20-PANINI-09A-03D COSM5487676 c.1379G>A p.R460H Substitution - Missense 16:84661661-84661661 + TCGA-CJ-4894-01 COSM3361941 c.299T>A p.V100E Substitution - Missense 16:84657106-84657106 + TCGA-CM-6674-01 COSM1380221 c.1448G>A p.R483H Substitution - Missense 16:84661730-84661730 + TCGA-EE-A3AG-06 COSM3513020 c.1515C>T p.I505I Substitution - coding silent 16:84661797-84661797 + TCGA-G4-6628-01 COSM1380216 c.762C>T p.C254C Substitution - coding silent 16:84657569-84657569 + Pat_63_B COSM5851640 c.338G>A p.G113D Substitution - Missense 16:84657145-84657145 + PT49 COSM5936218 c.1562C>T p.P521L Substitution - Missense 16:84661844-84661844 + OSCC-GB_00310111 COSM3712119 c.1793G>T p.R598L Substitution - Missense 16:84662075-84662075 + PR-03-022 COSM245319 c.1054G>A p.G352S Substitution - Missense 16:84657861-84657861 + T207 COSM2694657 c.355G>A p.V119I Substitution - Missense 16:84657162-84657162 + 8047893 COSM3387640 c.675G>C p.E225D Substitution - Missense 16:84657482-84657482 + 8012211 COSM218504 c.35G>A p.R12Q Substitution - Missense 16:84650902-84650902 + TCGA-HU-8602-01 COSM4063305 c.208T>C p.Y70H Substitution - Missense 16:84657015-84657015 + Pat_11_A COSM5851643 c.1181C>T p.S394F Substitution - Missense 16:84659803-84659803 + Pat_60_A COSM5851644 c.1495G>A p.G499R Substitution - Missense 16:84661777-84661777 + Pat_40_B COSM5851642 c.757G>A p.V253M Substitution - Missense 16:84657564-84657564 + Gp5D COSM2694670 c.834G>A p.A278A Substitution - coding silent 16:84657641-84657641 + 8030232 COSM3771236 c.1346C>T p.S449L Substitution - Missense 16:84661628-84661628 + TCGA-UC-A7PF-01 COSM4830232 c.1569C>G p.C523W Substitution - Missense 16:84661851-84661851 + T3090 COSM4696549 c.1119C>T p.R373R Substitution - coding silent 16:84657926-84657926 + I2L-P19Ta-Tumor-Organoid COSM2694672 c.844G>A p.V282I Substitution - Missense 16:84657651-84657651 + sysucc-1397T COSM974419 c.625G>A p.D209N Substitution - Missense 16:84657432-84657432 + T3033 COSM4696547 c.690G>A p.Q230Q Substitution - coding silent 16:84657497-84657497 + sysucc-311T COSM2694670 c.834G>A p.A278A Substitution - coding silent 16:84657641-84657641 + TCGA-E2-A574-01 COSM3818659 c.273C>T p.G91G Substitution - coding silent 16:84657080-84657080 + sysucc-1163T COSM2694656 c.354C>T p.Y118Y Substitution - coding silent 16:84657161-84657161 + TCGA-EI-6507-01 COSM1563460 c.1346_1347insG p.H452fs*42 Insertion - Frameshift 16:84661628-84661629 + TCGA-BR-8487-01 COSM4063309 c.811G>A p.V271M Substitution - Missense 16:84657618-84657618 + CHC892T COSM4795287 c.621G>A p.E207E Substitution - coding silent 16:84657428-84657428 + OSCC-GB_00740111 COSM3717119 c.418G>C p.E140Q Substitution - Missense 16:84657225-84657225 + PTC-50C COSM435879 c.1392A>G p.L464L Substitution - coding silent 16:84661674-84661674 + CHC892T COSM1741562 c.1668G>A p.W556* Substitution - Nonsense 16:84661950-84661950 + ICGC_0025 COSM218504 c.35G>A p.R12Q Substitution - Missense 16:84650902-84650902 + I2L-P7-Tumor-Organoid COSM1380218 c.1029delG p.G345fs*39 Deletion - Frameshift 16:84657836-84657836 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.578546 16q24.1 2479574|CGAP|BC032400|A/C|non-coding||1917|Validated; 2479574|CGAP|BC033821|A/C|non-coding||2116|Validated; 1534620|dbSNP|BC032400|A/G|coding|Glu306Glu|1048|Candidate; 1534620|dbSNP|BC033821|A/G|coding|Glu306Glu|1058|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.A270D c.809C>A 16 84691222 GBM C A Missense p.R42S c.124C>A 16 84690537 LUAD C T Missense p.A226V c.677C>T 16 84691090 CM C T Missense p.A99V c.296C>T 16 84690709 CM C T Missense p.L311F c.931C>T 16 84691344 UCEC C T Missense p.P332L c.995C>T 16 84691408 CM C T Missense p.P458L c.1373C>T 16 84695261 CM C T Missense p.R547C c.1639C>T 16 84695527 CM C T Missense p.S93F c.278C>T 16 84690691 CM C T Synonymous p.G302G c.906C>T 16 84691319 STAD C T Synonymous p.I16I c.48C>T 16 84684521 BLCA C T Synonymous p.I505I c.1515C>T 16 84695403 CM C T Synonymous p.S73S c.219C>T 16 84690632 CM G A IntronicSNV . c.1137+36G>A 16 84691586 CM G A Missense p.A261T c.781G>A 16 84691194 LUSC G A Missense p.A535T c.1603G>A 16 84695491 UCEC G A Missense p.G91S c.271G>A 16 84690684 STAD G A Missense p.R12Q c.35G>A 16 84684508 PAAD G A Missense p.R307Q c.920G>A 16 84691333 CM G A Synonymous p.V101V c.303G>A 16 84690716 BRCA G A Synonymous p.V231V c.693G>A 16 84691106 HNSC G - Frameshift p.V342Cfs*42 c.1024delG 16 84691436 RCCC GG AA Missense p.G43K c.127_128delinsAA 16 84690540 CM G T Synonymous p.L120L c.360G>T 16 84690773 LUAD G T Synonymous p.V10V c.30G>T 16 84684503 HC T A Missense p.V100E c.299T>A 16 84690712 RCCC T C Missense p.L120P c.359T>C 16 84690772 UCEC