Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 3 121351315 121351315 + Silent SNP G G A TCGA-OR-A5JV-01A-11D-A29I-10 TCGA-OR-A5JV-10A-01D-A29L-10 g.chr3:121351315G>A c.1104C>T c.(1102-1104)ccC>ccT p.P368P BLCA 3 121350795 121350795 + Silent SNP G G A TCGA-CU-A72E-01A-12D-A339-08 TCGA-CU-A72E-10A-01D-A339-08 g.chr3:121350795G>A c.1359C>T c.(1357-1359)gaC>gaT p.D453D BLCA 3 121353155 121353155 + Nonsense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr3:121353155G>A c.802C>T c.(802-804)Cga>Tga p.R268* BLCA 3 121354648 121354648 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr3:121354648C>T c.625G>A c.(625-627)Gct>Act p.A209T BLCA 3 121366186 121366186 + Missense_Mutation SNP C C G TCGA-DK-AA74-01A-11D-A391-08 TCGA-DK-AA74-10A-01D-A394-08 g.chr3:121366186C>G c.268G>C c.(268-270)Gaa>Caa p.E90Q BLCA 3 121366264 121366264 + Missense_Mutation SNP C C T TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr3:121366264C>T c.190G>A c.(190-192)Gag>Aag p.E64K BLCA 3 121366283 121366283 + Silent SNP C C T TCGA-FD-A62O-01A-11D-A30E-08 TCGA-FD-A62O-10A-01D-A30H-08 g.chr3:121366283C>T c.171G>A c.(169-171)ctG>ctA p.L57L BLCA 3 121377157 121377157 + Missense_Mutation SNP G G T TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chr3:121377157G>T c.38C>A c.(37-39)tCc>tAc p.S13Y BRCA 3 121361820 121361820 + Silent SNP G G A TCGA-A7-A0CE-01A-11W-A019-09 TCGA-A7-A0CE-10A-01W-A021-09 g.chr3:121361820G>A c.408C>T c.(406-408)gtC>gtT p.V136V BRCA 3 121363760 121363760 + Missense_Mutation SNP C C G TCGA-D8-A27V-01A-12D-A17D-09 TCGA-D8-A27V-10A-01D-A17D-09 g.chr3:121363760C>G c.304G>C c.(304-306)Gag>Cag p.E102Q BRCA 3 121376169 121376169 + Nonsense_Mutation SNP C C A TCGA-A8-A06X-01A-21W-A019-09 TCGA-A8-A06X-10A-01W-A021-09 g.chr3:121376169C>A c.115G>T c.(115-117)Gga>Tga p.G39* CESC 3 121376126 121376126 + Splice_Site SNP T T G TCGA-EK-A2RN-01A-12D-A20U-09 TCGA-EK-A2RN-10A-01D-A20U-09 g.chr3:121376126T>G c.158A>C c.(157-159)aAc>aCc p.N53T COAD 3 121350739 121350739 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:121350739C>T c.1415G>A c.(1414-1416)gGc>gAc p.G472D COAD 3 121350802 121350802 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr3:121350802G>A c.1352C>T c.(1351-1353)cCg>cTg p.P451L COAD 3 121350972 121350972 + Missense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:121350972C>T c.1300G>A c.(1300-1302)Gtg>Atg p.V434M COAD 3 121351296 121351296 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr3:121351296C>T c.1123G>A c.(1123-1125)Gag>Aag p.E375K COAD 3 121351315 121351315 + Silent SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr3:121351315G>A c.1104C>T c.(1102-1104)ccC>ccT p.P368P COAD 3 121353075 121353075 + Silent SNP C C A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:121353075C>A c.882G>T c.(880-882)ctG>ctT p.L294L COAD 3 121353083 121353083 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr3:121353083C>T c.874G>A c.(874-876)Gcc>Acc p.A292T COAD 3 121353133 121353133 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:121353133C>T c.824G>A c.(823-825)aGc>aAc p.S275N COAD 3 121353135 121353135 + Silent SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr3:121353135C>T c.822G>A c.(820-822)agG>agA p.R274R COAD 3 121353146 121353146 + Missense_Mutation SNP C C T TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr3:121353146C>T c.811G>A c.(811-813)Gtg>Atg p.V271M COAD 3 121354599 121354599 + Missense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr3:121354599G>A c.674C>T c.(673-675)aCg>aTg p.T225M COAD 3 121355337 121355337 + Splice_Site SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr3:121355337C>T c.e8-1 COAD 3 121356005 121356005 + Missense_Mutation SNP C C T TCGA-AA-3511-01A-21D-1835-10 TCGA-AA-3511-11A-01D-1835-10 g.chr3:121356005C>T c.553G>A c.(553-555)Gag>Aag p.E185K COAD 3 121356006 121356006 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:121356006G>A c.552C>T c.(550-552)caC>caT p.H184H COAD 3 121356066 121356068 + In_Frame_Del DEL CTC CTC - TCGA-AA-3548-01A-01W-0831-10 TCGA-AA-3548-10A-01W-0831-10 g.chr3:121356066_121356068delCTC c.490_492delGAG c.(490-492)gagdel p.E164del COAD 3 121366176 121366176 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:121366176C>T c.278G>A c.(277-279)cGa>cAa p.R93Q COAD 3 121376175 121376175 + Nonsense_Mutation SNP G G A TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chr3:121376175G>A c.109C>T c.(109-111)Cga>Tga p.R37* COAD 3 121376175 121376175 + Nonsense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:121376175G>A c.109C>T c.(109-111)Cga>Tga p.R37* COAD 3 121376175 121376175 + Nonsense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:121376175G>A c.109C>T c.(109-111)Cga>Tga p.R37* COADREAD 3 121350739 121350739 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:121350739C>T c.1415G>A c.(1414-1416)gGc>gAc p.G472D COADREAD 3 121350797 121350797 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:121350797C>T c.1357G>A c.(1357-1359)Gac>Aac p.D453N COADREAD 3 121350802 121350802 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr3:121350802G>A c.1352C>T c.(1351-1353)cCg>cTg p.P451L COADREAD 3 121350972 121350972 + Missense_Mutation SNP C C T TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:121350972C>T c.1300G>A c.(1300-1302)Gtg>Atg p.V434M COADREAD 3 121351296 121351296 + Missense_Mutation SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr3:121351296C>T c.1123G>A c.(1123-1125)Gag>Aag p.E375K COADREAD 3 121351315 121351315 + Silent SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr3:121351315G>A c.1104C>T c.(1102-1104)ccC>ccT p.P368P COADREAD 3 121353075 121353075 + Silent SNP C C A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:121353075C>A c.882G>T c.(880-882)ctG>ctT p.L294L COADREAD 3 121353083 121353083 + Missense_Mutation SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr3:121353083C>T c.874G>A c.(874-876)Gcc>Acc p.A292T COADREAD 3 121353133 121353133 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:121353133C>T c.824G>A c.(823-825)aGc>aAc p.S275N COADREAD 3 121353135 121353135 + Silent SNP C C T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr3:121353135C>T c.822G>A c.(820-822)agG>agA p.R274R COADREAD 3 121353146 121353146 + Missense_Mutation SNP C C T TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr3:121353146C>T c.811G>A c.(811-813)Gtg>Atg p.V271M COADREAD 3 121354599 121354599 + Missense_Mutation SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr3:121354599G>A c.674C>T c.(673-675)aCg>aTg p.T225M COADREAD 3 121355337 121355337 + Splice_Site SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr3:121355337C>T c.e8-1 COADREAD 3 121356005 121356005 + Missense_Mutation SNP C C T TCGA-AA-3511-01A-21D-1835-10 TCGA-AA-3511-11A-01D-1835-10 g.chr3:121356005C>T c.553G>A c.(553-555)Gag>Aag p.E185K COADREAD 3 121356006 121356006 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:121356006G>A c.552C>T c.(550-552)caC>caT p.H184H COADREAD 3 121356066 121356068 + In_Frame_Del DEL CTC CTC - TCGA-AA-3548-01A-01W-0831-10 TCGA-AA-3548-10A-01W-0831-10 g.chr3:121356066_121356068delCTC c.490_492delGAG c.(490-492)gagdel p.E164del COADREAD 3 121366176 121366176 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:121366176C>T c.278G>A c.(277-279)cGa>cAa p.R93Q COADREAD 3 121376175 121376175 + Nonsense_Mutation SNP G G A TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chr3:121376175G>A c.109C>T c.(109-111)Cga>Tga p.R37* COADREAD 3 121376175 121376175 + Nonsense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:121376175G>A c.109C>T c.(109-111)Cga>Tga p.R37* COADREAD 3 121376175 121376175 + Nonsense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:121376175G>A c.109C>T c.(109-111)Cga>Tga p.R37* ESCA 3 121356020 121356020 + Missense_Mutation SNP C C T TCGA-LN-A4A9-01A-11D-A28B-09 TCGA-LN-A4A9-10A-01D-A28E-09 g.chr3:121356020C>T c.538G>A c.(538-540)Gag>Aag p.E180K GBM 3 121350755 121350755 + Missense_Mutation SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 g.chr3:121350755G>A c.1399C>T c.(1399-1401)Cgg>Tgg p.R467W GBM 3 121351248 121351248 + Missense_Mutation SNP C C T TCGA-41-2573-01A-01D-1495-08 TCGA-41-2573-10A-01D-1495-08 g.chr3:121351248C>T c.1171G>A c.(1171-1173)Gat>Aat p.D391N GBM 3 121356079 121356079 + Missense_Mutation SNP C C T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 g.chr3:121356079C>T c.479G>A c.(478-480)cGg>cAg p.R160Q GBMLGG 3 121350755 121350755 + Missense_Mutation SNP G G A TCGA-06-2562-01A-01D-1494-08 TCGA-06-2562-10A-01D-1494-08 g.chr3:121350755G>A c.1399C>T c.(1399-1401)Cgg>Tgg p.R467W GBMLGG 3 121351248 121351248 + Missense_Mutation SNP C C T TCGA-41-2573-01A-01D-1495-08 TCGA-41-2573-10A-01D-1495-08 g.chr3:121351248C>T c.1171G>A c.(1171-1173)Gat>Aat p.D391N GBMLGG 3 121351926 121351926 + Missense_Mutation SNP C C A TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 g.chr3:121351926C>A c.996G>T c.(994-996)caG>caT p.Q332H GBMLGG 3 121356079 121356079 + Missense_Mutation SNP C C T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 g.chr3:121356079C>T c.479G>A c.(478-480)cGg>cAg p.R160Q HNSC 3 121351340 121351340 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr3:121351340T>C c.1079A>G c.(1078-1080)tAc>tGc p.Y360C HNSC 3 121352001 121352001 + Silent SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr3:121352001C>A c.921G>T c.(919-921)ggG>ggT p.G307G KICH 3 121351315 121351315 + Silent SNP G G A TCGA-KN-8433-01A-11D-2310-10 TCGA-KN-8433-11A-01D-2311-10 g.chr3:121351315G>A c.1104C>T c.(1102-1104)ccC>ccT p.P368P KIPAN 3 121351315 121351315 + Silent SNP G G A TCGA-KN-8433-01A-11D-2310-10 TCGA-KN-8433-11A-01D-2311-10 g.chr3:121351315G>A c.1104C>T c.(1102-1104)ccC>ccT p.P368P KIPAN 3 121366274 121366274 + Missense_Mutation SNP T T G TCGA-B0-4852-01A-01D-1501-10 TCGA-B0-4852-11A-01D-1501-10 g.chr3:121366274T>G c.180A>C c.(178-180)aaA>aaC p.K60N KIRC 3 121366274 121366274 + Missense_Mutation SNP T T G TCGA-B0-4852-01A-01D-1501-10 TCGA-B0-4852-11A-01D-1501-10 g.chr3:121366274T>G c.180A>C c.(178-180)aaA>aaC p.K60N LAML 3 121377178 121377178 + Missense_Mutation SNP A A C TCGA-AB-2863-03D-01W-0755-09 TCGA-AB-2863-11D-01W-0755-09 g.chr3:121377178A>C c.17T>G c.(16-18)gTg>gGg p.V6G LGG 3 121351926 121351926 + Missense_Mutation SNP C C A TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 g.chr3:121351926C>A c.996G>T c.(994-996)caG>caT p.Q332H LIHC 3 121351335 121351335 + Missense_Mutation SNP C C G TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr3:121351335C>G c.1084G>C c.(1084-1086)Gca>Cca p.A362P LIHC 3 121353148 121353148 + Missense_Mutation SNP G G A TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr3:121353148G>A c.809C>T c.(808-810)gCt>gTt p.A270V LUAD 3 121350712 121350712 + Missense_Mutation SNP T T A TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr3:121350712T>A c.1442A>T c.(1441-1443)tAt>tTt p.Y481F LUAD 3 121350731 121350731 + Missense_Mutation SNP C C T TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 g.chr3:121350731C>T c.1423G>A c.(1423-1425)Gga>Aga p.G475R LUAD 3 121350770 121350770 + Missense_Mutation SNP C C G TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 g.chr3:121350770C>G c.1384G>C c.(1384-1386)Gac>Cac p.D462H LUAD 3 121350947 121350947 + Splice_Site SNP C C G TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr3:121350947C>G c.e13+1 LUAD 3 121350993 121350993 + Missense_Mutation SNP C C A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chr3:121350993C>A c.1279G>T c.(1279-1281)Gtg>Ttg p.V427L LUAD 3 121351019 121351019 + Missense_Mutation SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 g.chr3:121351019C>A c.1253G>T c.(1252-1254)tGc>tTc p.C418F LUAD 3 121351227 121351227 + Missense_Mutation SNP C C T TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr3:121351227C>T c.1192G>A c.(1192-1194)Gag>Aag p.E398K LUAD 3 121351229 121351229 + Missense_Mutation SNP T T G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 g.chr3:121351229T>G c.1190A>C c.(1189-1191)tAt>tCt p.Y397S LUAD 3 121351263 121351263 + Missense_Mutation SNP T T A TCGA-49-4514-01A-21D-1855-08 TCGA-49-4514-11A-01D-1855-08 g.chr3:121351263T>A c.1156A>T c.(1156-1158)Agg>Tgg p.R386W LUAD 3 121351300 121351300 + Missense_Mutation SNP C C A TCGA-97-8174-01A-11D-2284-08 TCGA-97-8174-10A-01D-2284-08 g.chr3:121351300C>A c.1119G>T c.(1117-1119)gaG>gaT p.E373D LUAD 3 121351394 121351394 + Frame_Shift_Del DEL G G - TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 g.chr3:121351394delG c.1025delC c.(1024-1026)ccafs p.P342fs LUAD 3 121353096 121353096 + Silent SNP C C T TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr3:121353096C>T c.861G>A c.(859-861)gaG>gaA p.E287E LUAD 3 121353122 121353122 + Missense_Mutation SNP G G T TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr3:121353122G>T c.835C>A c.(835-837)Cca>Aca p.P279T LUAD 3 121353135 121353135 + Missense_Mutation SNP C C A TCGA-NJ-A55A-01A-11D-A25L-08 TCGA-NJ-A55A-10A-01D-A25L-08 g.chr3:121353135C>A c.822G>T c.(820-822)agG>agT p.R274S LUAD 3 121355331 121355331 + Missense_Mutation SNP C C T TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 g.chr3:121355331C>T c.571G>A c.(571-573)Gcc>Acc p.A191T LUAD 3 121356023 121356023 + Missense_Mutation SNP C C G TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 g.chr3:121356023C>G c.535G>C c.(535-537)Gga>Cga p.G179R LUAD 3 121363685 121363685 + Missense_Mutation SNP C C G TCGA-17-Z053-01A-01W-0747-08 TCGA-17-Z053-11A-01W-0747-08 g.chr3:121363685C>G c.379G>C c.(379-381)Gag>Cag p.E127Q LUAD 3 121376180 121376180 + Missense_Mutation SNP T T C TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr3:121376180T>C c.104A>G c.(103-105)gAg>gGg p.E35G LUSC 3 121350949 121350949 + Splice_Site SNP T T A TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 g.chr3:121350949T>A c.1323A>T c.(1321-1323)ggA>ggT p.G441G LUSC 3 121351918 121351918 + Missense_Mutation SNP G G A TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 g.chr3:121351918G>A c.1004C>T c.(1003-1005)cCg>cTg p.P335L LUSC 3 121356041 121356041 + Missense_Mutation SNP G G C TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 g.chr3:121356041G>C c.517C>G c.(517-519)Ctg>Gtg p.L173V LUSC 3 121363748 121363748 + Nonsense_Mutation SNP C C A TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 g.chr3:121363748C>A c.316G>T c.(316-318)Gag>Tag p.E106* PAAD 3 121354642 121354642 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 g.chr3:121354642C>T c.631G>A c.(631-633)Ggc>Agc p.G211S PRAD 3 121350802 121350802 + Missense_Mutation SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 g.chr3:121350802G>A c.1352C>T c.(1351-1353)cCg>cTg p.P451L READ 3 121350797 121350797 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:121350797C>T c.1357G>A c.(1357-1359)Gac>Aac p.D453N SARC 3 121350968 121350968 + Missense_Mutation SNP G G T TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 g.chr3:121350968G>T c.1304C>A c.(1303-1305)gCt>gAt p.A435D SARC 3 121356022 121356022 + Missense_Mutation SNP C C T TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr3:121356022C>T c.536G>A c.(535-537)gGa>gAa p.G179E SKCM 3 121350723 121350723 + Silent SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr3:121350723G>A c.1431C>T c.(1429-1431)ttC>ttT p.F477F SKCM 3 121350723 121350723 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr3:121350723G>A c.1431C>T c.(1429-1431)ttC>ttT p.F477F SKCM 3 121350806 121350806 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr3:121350806C>T c.1348G>A c.(1348-1350)Gat>Aat p.D450N SKCM 3 121350811 121350811 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:121350811G>A c.1343C>T c.(1342-1344)tCc>tTc p.S448F SKCM 3 121350818 121350818 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:121350818C>T c.1336G>A c.(1336-1338)Gag>Aag p.E446K SKCM 3 121350826 121350826 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr3:121350826C>T c.1328G>A c.(1327-1329)gGa>gAa p.G443E SKCM 3 121350950 121350950 + Missense_Mutation SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr3:121350950C>T c.1322G>A c.(1321-1323)gGa>gAa p.G441E SKCM 3 121351010 121351010 + Missense_Mutation SNP C C A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr3:121351010C>A c.1262G>T c.(1261-1263)gGg>gTg p.G421V SKCM 3 121351017 121351017 + Missense_Mutation SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr3:121351017G>A c.1255C>T c.(1255-1257)Ccg>Tcg p.P419S SKCM 3 121351032 121351032 + Splice_Site SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr3:121351032C>T c.e13-1 SKCM 3 121351959 121351959 + Silent SNP C C T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr3:121351959C>T c.963G>A c.(961-963)agG>agA p.R321R SKCM 3 121353122 121353122 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:121353122G>A c.835C>T c.(835-837)Cca>Tca p.P279S SKCM 3 121353207 121353207 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 g.chr3:121353207C>T c.750G>A c.(748-750)agG>agA p.R250R SKCM 3 121353213 121353213 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:121353213C>T c.744G>A c.(742-744)gaG>gaA p.E248E SKCM 3 121353216 121353216 + Silent SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr3:121353216C>T c.741G>A c.(739-741)gaG>gaA p.E247E SKCM 3 121353237 121353237 + Silent SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr3:121353237C>T c.720G>A c.(718-720)gcG>gcA p.A240A SKCM 3 121354584 121354584 + Missense_Mutation SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr3:121354584G>A c.689C>T c.(688-690)gCc>gTc p.A230V SKCM 3 121354633 121354633 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr3:121354633C>T c.640G>A c.(640-642)Gaa>Aaa p.E214K SKCM 3 121356037 121356037 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:121356037C>T c.521G>A c.(520-522)gGa>gAa p.G174E SKCM 3 121356038 121356038 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:121356038C>T c.520G>A c.(520-522)Gga>Aga p.G174R SKCM 3 121356074 121356074 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:121356074C>T c.484G>A c.(484-486)Ggg>Agg p.G162R SKCM 3 121366201 121366201 + Missense_Mutation SNP C C T TCGA-GN-A265-06A-21D-A197-08 TCGA-GN-A265-10A-01D-A199-08 g.chr3:121366201C>T c.253G>A c.(253-255)Ggt>Agt p.G85S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 121345687 121345687 single base substitution C T downstream_gene_variant BLCA-CN 3 121366186 121366186 single base substitution C G 3_prime_UTR_variant BLCA-CN 3 121366186 121366186 single base substitution C G exon_variant BLCA-CN 3 121366186 121366186 single base substitution C G missense_variant E90Q 268G>C BLCA-CN 3 121366186 121366186 single base substitution C G upstream_gene_variant BLCA-US 3 121345737 121345737 single base substitution C T downstream_gene_variant BLCA-US 3 121354589 121354589 single base substitution T C downstream_gene_variant BLCA-US 3 121354589 121354589 single base substitution T C exon_variant BLCA-US 3 121354589 121354589 single base substitution T C missense_variant I191M 573A>G BLCA-US 3 121354589 121354589 single base substitution T C missense_variant I228M 684A>G BRCA-EU 3 121345364 121345364 single base substitution G T downstream_gene_variant BRCA-EU 3 121346180 121346180 single base substitution G A downstream_gene_variant BRCA-EU 3 121347465 121347465 single base substitution T A downstream_gene_variant BRCA-EU 3 121348549 121348549 single base substitution C G downstream_gene_variant BRCA-EU 3 121348671 121348671 single base substitution G C downstream_gene_variant BRCA-EU 3 121349851 121349851 single base substitution G A downstream_gene_variant BRCA-EU 3 121350024 121350024 single base substitution G A downstream_gene_variant BRCA-EU 3 121350756 121350756 single base substitution C T downstream_gene_variant BRCA-EU 3 121350756 121350756 single base substitution C T exon_variant BRCA-EU 3 121350756 121350756 single base substitution C T stop_gained W429* 1287G>A BRCA-EU 3 121350756 121350756 single base substitution C T stop_gained W466* 1398G>A BRCA-EU 3 121352091 121352091 single base substitution C G downstream_gene_variant BRCA-EU 3 121352091 121352091 single base substitution C G intron_variant BRCA-EU 3 121352971 121352971 single base substitution T C downstream_gene_variant BRCA-EU 3 121352971 121352971 single base substitution T C intron_variant BRCA-EU 3 121356727 121356727 single base substitution G A intron_variant BRCA-EU 3 121357404 121357404 single base substitution G A intron_variant BRCA-EU 3 121359952 121359952 single base substitution A G downstream_gene_variant BRCA-EU 3 121359952 121359952 single base substitution A G intron_variant BRCA-EU 3 121361315 121361315 single base substitution C T downstream_gene_variant BRCA-EU 3 121361315 121361315 single base substitution C T intron_variant BRCA-EU 3 121363131 121363131 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 121363131 121363131 insertion of <=200bp - T exon_variant BRCA-EU 3 121363131 121363131 insertion of <=200bp - T intron_variant BRCA-EU 3 121363131 121363131 insertion of <=200bp - T upstream_gene_variant BRCA-EU 3 121363463 121363464 deletion of <=200bp CT - downstream_gene_variant BRCA-EU 3 121363463 121363464 deletion of <=200bp CT - exon_variant BRCA-EU 3 121363463 121363464 deletion of <=200bp CT - intron_variant BRCA-EU 3 121363463 121363464 deletion of <=200bp CT - upstream_gene_variant BRCA-EU 3 121364333 121364333 single base substitution G A intron_variant BRCA-EU 3 121364333 121364333 single base substitution G A upstream_gene_variant BRCA-EU 3 121364583 121364583 single base substitution T A intron_variant BRCA-EU 3 121364583 121364583 single base substitution T A upstream_gene_variant BRCA-EU 3 121366658 121366658 single base substitution G A intron_variant BRCA-EU 3 121366658 121366658 single base substitution G A upstream_gene_variant BRCA-EU 3 121367091 121367091 single base substitution G T intron_variant BRCA-EU 3 121367091 121367091 single base substitution G T upstream_gene_variant BRCA-EU 3 121367554 121367554 single base substitution C G downstream_gene_variant BRCA-EU 3 121367554 121367554 single base substitution C G intron_variant BRCA-EU 3 121367554 121367554 single base substitution C G upstream_gene_variant BRCA-EU 3 121367629 121367629 single base substitution G A downstream_gene_variant BRCA-EU 3 121367629 121367629 single base substitution G A intron_variant BRCA-EU 3 121367629 121367629 single base substitution G A upstream_gene_variant BRCA-EU 3 121369134 121369134 single base substitution G A downstream_gene_variant BRCA-EU 3 121369134 121369134 single base substitution G A intron_variant BRCA-EU 3 121369653 121369653 single base substitution G C downstream_gene_variant BRCA-EU 3 121369653 121369653 single base substitution G C intron_variant BRCA-EU 3 121370244 121370245 deletion of <=200bp AA - downstream_gene_variant BRCA-EU 3 121370244 121370245 deletion of <=200bp AA - intron_variant BRCA-EU 3 121370247 121370247 single base substitution A G downstream_gene_variant BRCA-EU 3 121370247 121370247 single base substitution A G intron_variant BRCA-EU 3 121370248 121370248 single base substitution G A downstream_gene_variant BRCA-EU 3 121370248 121370248 single base substitution G A intron_variant BRCA-EU 3 121372654 121372654 single base substitution T C downstream_gene_variant BRCA-EU 3 121372654 121372654 single base substitution T C exon_variant BRCA-EU 3 121372654 121372654 single base substitution T C intron_variant BRCA-EU 3 121373734 121373734 single base substitution A G downstream_gene_variant BRCA-EU 3 121373734 121373734 single base substitution A G intron_variant BRCA-EU 3 121374266 121374266 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 121374266 121374266 deletion of <=200bp T - intron_variant BRCA-EU 3 121374854 121374854 single base substitution C G downstream_gene_variant BRCA-EU 3 121374854 121374854 single base substitution C G intron_variant BRCA-EU 3 121375576 121375576 single base substitution A G downstream_gene_variant BRCA-EU 3 121375576 121375576 single base substitution A G intron_variant BRCA-EU 3 121377307 121377307 single base substitution T C intron_variant BRCA-EU 3 121377354 121377354 single base substitution G C intron_variant BRCA-EU 3 121378288 121378288 single base substitution G A intron_variant BRCA-EU 3 121382803 121382803 single base substitution C A upstream_gene_variant BRCA-FR 3 121362845 121362845 single base substitution C T downstream_gene_variant BRCA-FR 3 121362845 121362845 single base substitution C T exon_variant BRCA-FR 3 121362845 121362845 single base substitution C T intron_variant BRCA-FR 3 121363921 121363921 single base substitution G A intron_variant BRCA-FR 3 121363921 121363921 single base substitution G A upstream_gene_variant BRCA-FR 3 121364333 121364333 single base substitution G A intron_variant BRCA-FR 3 121364333 121364333 single base substitution G A upstream_gene_variant BRCA-FR 3 121368010 121368010 single base substitution G C downstream_gene_variant BRCA-FR 3 121368010 121368010 single base substitution G C intron_variant BRCA-FR 3 121368010 121368010 single base substitution G C upstream_gene_variant BRCA-FR 3 121378288 121378288 single base substitution G A intron_variant BRCA-UK 3 121369915 121369915 single base substitution G C downstream_gene_variant BRCA-UK 3 121369915 121369915 single base substitution G C intron_variant BRCA-UK 3 121372654 121372654 single base substitution T C downstream_gene_variant BRCA-UK 3 121372654 121372654 single base substitution T C exon_variant BRCA-UK 3 121372654 121372654 single base substitution T C intron_variant BRCA-US 3 121361820 121361820 single base substitution G A 3_prime_UTR_variant BRCA-US 3 121361820 121361820 single base substitution G A downstream_gene_variant BRCA-US 3 121361820 121361820 single base substitution G A exon_variant BRCA-US 3 121361820 121361820 single base substitution G A intron_variant BRCA-US 3 121361820 121361820 single base substitution G A synonymous_variant V136V 408C>T BRCA-US 3 121363760 121363760 single base substitution C G 3_prime_UTR_variant BRCA-US 3 121363760 121363760 single base substitution C G exon_variant BRCA-US 3 121363760 121363760 single base substitution C G missense_variant E102Q 304G>C BRCA-US 3 121363760 121363760 single base substitution C G upstream_gene_variant BRCA-US 3 121376169 121376169 single base substitution C A downstream_gene_variant BRCA-US 3 121376169 121376169 single base substitution C A exon_variant BRCA-US 3 121376169 121376169 single base substitution C A stop_gained G39* 115G>T BTCA-JP 3 121345710 121345710 single base substitution T G downstream_gene_variant BTCA-JP 3 121353155 121353155 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 121353155 121353155 single base substitution G A downstream_gene_variant BTCA-JP 3 121353155 121353155 single base substitution G A exon_variant BTCA-JP 3 121353155 121353155 single base substitution G A stop_gained R231* 691C>T BTCA-JP 3 121353155 121353155 single base substitution G A stop_gained R268* 802C>T BTCA-JP 3 121353173 121353173 single base substitution C T 3_prime_UTR_variant BTCA-JP 3 121353173 121353173 single base substitution C T downstream_gene_variant BTCA-JP 3 121353173 121353173 single base substitution C T exon_variant BTCA-JP 3 121353173 121353173 single base substitution C T missense_variant A225T 673G>A BTCA-JP 3 121353173 121353173 single base substitution C T missense_variant A262T 784G>A BTCA-JP 3 121363823 121363823 deletion of <=200bp A - intron_variant BTCA-JP 3 121363823 121363823 deletion of <=200bp A - upstream_gene_variant BTCA-JP 3 121377299 121377299 deletion of <=200bp T - intron_variant CESC-US 3 121345634 121345634 single base substitution C G downstream_gene_variant CESC-US 3 121350298 121350298 single base substitution G T 3_prime_UTR_variant CESC-US 3 121350298 121350298 single base substitution G T downstream_gene_variant CESC-US 3 121350298 121350298 single base substitution G T exon_variant CESC-US 3 121376126 121376126 single base substitution T G downstream_gene_variant CESC-US 3 121376126 121376126 single base substitution T G exon_variant CESC-US 3 121376126 121376126 single base substitution T G missense_variant N53T 158A>C CESC-US 3 121376126 121376126 single base substitution T G splice_region_variant CESC-US 3 121383432 121383432 single base substitution G C upstream_gene_variant CLLE-ES 3 121371970 121371970 single base substitution T A downstream_gene_variant CLLE-ES 3 121371970 121371970 single base substitution T A intron_variant COAD-US 3 121345689 121345689 single base substitution C T downstream_gene_variant COAD-US 3 121345749 121345749 single base substitution G A downstream_gene_variant COAD-US 3 121350739 121350739 single base substitution C T downstream_gene_variant COAD-US 3 121350739 121350739 single base substitution C T exon_variant COAD-US 3 121350739 121350739 single base substitution C T missense_variant G435D 1304G>A COAD-US 3 121350739 121350739 single base substitution C T missense_variant G472D 1415G>A COAD-US 3 121350972 121350972 single base substitution C T downstream_gene_variant COAD-US 3 121350972 121350972 single base substitution C T exon_variant COAD-US 3 121350972 121350972 single base substitution C T missense_variant V397M 1189G>A COAD-US 3 121350972 121350972 single base substitution C T missense_variant V434M 1300G>A COAD-US 3 121351296 121351296 single base substitution C T 3_prime_UTR_variant COAD-US 3 121351296 121351296 single base substitution C T downstream_gene_variant COAD-US 3 121351296 121351296 single base substitution C T exon_variant COAD-US 3 121351296 121351296 single base substitution C T missense_variant E338K 1012G>A COAD-US 3 121351296 121351296 single base substitution C T missense_variant E375K 1123G>A COAD-US 3 121351315 121351315 insertion of <=200bp - GGCTCAGGCTCA 3_prime_UTR_variant COAD-US 3 121351315 121351315 insertion of <=200bp - GGCTCAGGCTCA downstream_gene_variant COAD-US 3 121351315 121351315 insertion of <=200bp - GGCTCAGGCTCA exon_variant COAD-US 3 121351315 121351315 insertion of <=200bp - GGCTCAGGCTCA stop_gained P331P*A*A COAD-US 3 121351315 121351315 insertion of <=200bp - GGCTCAGGCTCA stop_gained P368P*A*A COAD-US 3 121351315 121351315 single base substitution G A 3_prime_UTR_variant COAD-US 3 121351315 121351315 single base substitution G A downstream_gene_variant COAD-US 3 121351315 121351315 single base substitution G A exon_variant COAD-US 3 121351315 121351315 single base substitution G A synonymous_variant P331P 993C>T COAD-US 3 121351315 121351315 single base substitution G A synonymous_variant P368P 1104C>T COAD-US 3 121353083 121353083 single base substitution C T 3_prime_UTR_variant COAD-US 3 121353083 121353083 single base substitution C T downstream_gene_variant COAD-US 3 121353083 121353083 single base substitution C T exon_variant COAD-US 3 121353083 121353083 single base substitution C T missense_variant A255T 763G>A COAD-US 3 121353083 121353083 single base substitution C T missense_variant A292T 874G>A COAD-US 3 121353133 121353133 single base substitution C T 3_prime_UTR_variant COAD-US 3 121353133 121353133 single base substitution C T downstream_gene_variant COAD-US 3 121353133 121353133 single base substitution C T exon_variant COAD-US 3 121353133 121353133 single base substitution C T missense_variant S238N 713G>A COAD-US 3 121353133 121353133 single base substitution C T missense_variant S275N 824G>A COAD-US 3 121353135 121353135 single base substitution C T 3_prime_UTR_variant COAD-US 3 121353135 121353135 single base substitution C T downstream_gene_variant COAD-US 3 121353135 121353135 single base substitution C T exon_variant COAD-US 3 121353135 121353135 single base substitution C T synonymous_variant R237R 711G>A COAD-US 3 121353135 121353135 single base substitution C T synonymous_variant R274R 822G>A COAD-US 3 121355337 121355337 single base substitution C T downstream_gene_variant COAD-US 3 121355337 121355337 single base substitution C T splice_acceptor_variant COAD-US 3 121356005 121356005 single base substitution C T 3_prime_UTR_variant COAD-US 3 121356005 121356005 single base substitution C T exon_variant COAD-US 3 121356005 121356005 single base substitution C T intron_variant COAD-US 3 121356005 121356005 single base substitution C T missense_variant E185K 553G>A COAD-US 3 121376175 121376175 single base substitution G A downstream_gene_variant COAD-US 3 121376175 121376175 single base substitution G A exon_variant COAD-US 3 121376175 121376175 single base substitution G A stop_gained R37* 109C>T COAD-US 3 121383449 121383449 single base substitution C T upstream_gene_variant COCA-CN 3 121351480 121351480 single base substitution T C downstream_gene_variant COCA-CN 3 121351480 121351480 single base substitution T C intron_variant COCA-CN 3 121353202 121353202 single base substitution C T 3_prime_UTR_variant COCA-CN 3 121353202 121353202 single base substitution C T downstream_gene_variant COCA-CN 3 121353202 121353202 single base substitution C T exon_variant COCA-CN 3 121353202 121353202 single base substitution C T missense_variant R215Q 644G>A COCA-CN 3 121353202 121353202 single base substitution C T missense_variant R252Q 755G>A COCA-CN 3 121356079 121356079 single base substitution C T 3_prime_UTR_variant COCA-CN 3 121356079 121356079 single base substitution C T exon_variant COCA-CN 3 121356079 121356079 single base substitution C T intron_variant COCA-CN 3 121356079 121356079 single base substitution C T missense_variant R160Q 479G>A COCA-CN 3 121383753 121383753 single base substitution T G upstream_gene_variant ESAD-UK 3 121345426 121345426 single base substitution A C downstream_gene_variant ESAD-UK 3 121345907 121345907 single base substitution C T downstream_gene_variant ESAD-UK 3 121345959 121345959 single base substitution T C downstream_gene_variant ESAD-UK 3 121346941 121346941 single base substitution A G downstream_gene_variant ESAD-UK 3 121347990 121347990 single base substitution G C downstream_gene_variant ESAD-UK 3 121350694 121350694 single base substitution C T downstream_gene_variant ESAD-UK 3 121350694 121350694 single base substitution C T exon_variant ESAD-UK 3 121350694 121350694 single base substitution C T stop_retained_variant *450* 1349G>A ESAD-UK 3 121350694 121350694 single base substitution C T stop_retained_variant *487* 1460G>A ESAD-UK 3 121351016 121351016 single base substitution G A downstream_gene_variant ESAD-UK 3 121351016 121351016 single base substitution G A exon_variant ESAD-UK 3 121351016 121351016 single base substitution G A missense_variant P382L 1145C>T ESAD-UK 3 121351016 121351016 single base substitution G A missense_variant P419L 1256C>T ESAD-UK 3 121352665 121352665 single base substitution G A downstream_gene_variant ESAD-UK 3 121352665 121352665 single base substitution G A intron_variant ESAD-UK 3 121353203 121353203 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 121353203 121353203 single base substitution G A downstream_gene_variant ESAD-UK 3 121353203 121353203 single base substitution G A exon_variant ESAD-UK 3 121353203 121353203 single base substitution G A stop_gained R215* 643C>T ESAD-UK 3 121353203 121353203 single base substitution G A stop_gained R252* 754C>T ESAD-UK 3 121353616 121353616 single base substitution C T downstream_gene_variant ESAD-UK 3 121353616 121353616 single base substitution C T intron_variant ESAD-UK 3 121353805 121353805 single base substitution C T downstream_gene_variant ESAD-UK 3 121353805 121353805 single base substitution C T intron_variant ESAD-UK 3 121354714 121354714 single base substitution G A downstream_gene_variant ESAD-UK 3 121354714 121354714 single base substitution G A intron_variant ESAD-UK 3 121354747 121354747 single base substitution T C downstream_gene_variant ESAD-UK 3 121354747 121354747 single base substitution T C intron_variant ESAD-UK 3 121355753 121355753 single base substitution C T downstream_gene_variant ESAD-UK 3 121355753 121355753 single base substitution C T intron_variant ESAD-UK 3 121356395 121356395 single base substitution A G intron_variant ESAD-UK 3 121357143 121357143 single base substitution C T intron_variant ESAD-UK 3 121357213 121357213 single base substitution T A intron_variant ESAD-UK 3 121359026 121359026 single base substitution C G downstream_gene_variant ESAD-UK 3 121359026 121359026 single base substitution C G intron_variant ESAD-UK 3 121360705 121360705 single base substitution G T downstream_gene_variant ESAD-UK 3 121360705 121360705 single base substitution G T intron_variant ESAD-UK 3 121361329 121361329 single base substitution A G downstream_gene_variant ESAD-UK 3 121361329 121361329 single base substitution A G intron_variant ESAD-UK 3 121361481 121361481 single base substitution G A downstream_gene_variant ESAD-UK 3 121361481 121361481 single base substitution G A intron_variant ESAD-UK 3 121363534 121363534 single base substitution C T downstream_gene_variant ESAD-UK 3 121363534 121363534 single base substitution C T exon_variant ESAD-UK 3 121363534 121363534 single base substitution C T intron_variant ESAD-UK 3 121363534 121363534 single base substitution C T upstream_gene_variant ESAD-UK 3 121366401 121366401 single base substitution A G intron_variant ESAD-UK 3 121366401 121366401 single base substitution A G upstream_gene_variant ESAD-UK 3 121367570 121367570 single base substitution T G downstream_gene_variant ESAD-UK 3 121367570 121367570 single base substitution T G intron_variant ESAD-UK 3 121367570 121367570 single base substitution T G upstream_gene_variant ESAD-UK 3 121368535 121368535 single base substitution C A downstream_gene_variant ESAD-UK 3 121368535 121368535 single base substitution C A intron_variant ESAD-UK 3 121369755 121369755 single base substitution C T downstream_gene_variant ESAD-UK 3 121369755 121369755 single base substitution C T intron_variant ESAD-UK 3 121370526 121370526 single base substitution T A downstream_gene_variant ESAD-UK 3 121370526 121370526 single base substitution T A intron_variant ESAD-UK 3 121371694 121371694 single base substitution C A downstream_gene_variant ESAD-UK 3 121371694 121371694 single base substitution C A intron_variant ESAD-UK 3 121371759 121371759 single base substitution A G downstream_gene_variant ESAD-UK 3 121371759 121371759 single base substitution A G intron_variant ESAD-UK 3 121373523 121373523 single base substitution G C downstream_gene_variant ESAD-UK 3 121373523 121373523 single base substitution G C intron_variant ESAD-UK 3 121376196 121376196 single base substitution C T downstream_gene_variant ESAD-UK 3 121376196 121376196 single base substitution C T exon_variant ESAD-UK 3 121376196 121376196 single base substitution C T missense_variant D30N 88G>A ESAD-UK 3 121378056 121378056 single base substitution T G intron_variant ESAD-UK 3 121378852 121378852 single base substitution G A intron_variant ESAD-UK 3 121379941 121379941 single base substitution G C upstream_gene_variant ESAD-UK 3 121380888 121380888 single base substitution C A upstream_gene_variant ESAD-UK 3 121380994 121380994 single base substitution C T upstream_gene_variant ESAD-UK 3 121381582 121381582 deletion of <=200bp A - upstream_gene_variant ESAD-UK 3 121381968 121381968 single base substitution C T upstream_gene_variant ESAD-UK 3 121384285 121384285 single base substitution T G upstream_gene_variant ESCA-CN 3 121366283 121366283 single base substitution C T exon_variant ESCA-CN 3 121366283 121366283 single base substitution C T intron_variant ESCA-CN 3 121366283 121366283 single base substitution C T synonymous_variant L57L 171G>A ESCA-CN 3 121366283 121366283 single base substitution C T upstream_gene_variant ESCA-CN 3 121383297 121383297 single base substitution G A upstream_gene_variant GBM-US 3 121350755 121350755 single base substitution G A downstream_gene_variant GBM-US 3 121350755 121350755 single base substitution G A exon_variant GBM-US 3 121350755 121350755 single base substitution G A missense_variant R430W 1288C>T GBM-US 3 121350755 121350755 single base substitution G A missense_variant R467W 1399C>T GBM-US 3 121351248 121351248 single base substitution C T downstream_gene_variant GBM-US 3 121351248 121351248 single base substitution C T exon_variant GBM-US 3 121351248 121351248 single base substitution C T missense_variant D354N 1060G>A GBM-US 3 121351248 121351248 single base substitution C T missense_variant D391N 1171G>A GBM-US 3 121356079 121356079 single base substitution C T 3_prime_UTR_variant GBM-US 3 121356079 121356079 single base substitution C T exon_variant GBM-US 3 121356079 121356079 single base substitution C T intron_variant GBM-US 3 121356079 121356079 single base substitution C T missense_variant R160Q 479G>A KIRC-US 3 121366274 121366274 single base substitution T G exon_variant KIRC-US 3 121366274 121366274 single base substitution T G intron_variant KIRC-US 3 121366274 121366274 single base substitution T G missense_variant K60N 180A>C KIRC-US 3 121366274 121366274 single base substitution T G upstream_gene_variant KIRP-US 3 121345735 121345735 single base substitution C T downstream_gene_variant LAML-KR 3 121350573 121350573 single base substitution A G 3_prime_UTR_variant LAML-KR 3 121350573 121350573 single base substitution A G downstream_gene_variant LAML-KR 3 121350573 121350573 single base substitution A G exon_variant LAML-KR 3 121351315 121351315 single base substitution G A 3_prime_UTR_variant LAML-KR 3 121351315 121351315 single base substitution G A downstream_gene_variant LAML-KR 3 121351315 121351315 single base substitution G A exon_variant LAML-KR 3 121351315 121351315 single base substitution G A synonymous_variant P331P 993C>T LAML-KR 3 121351315 121351315 single base substitution G A synonymous_variant P368P 1104C>T LAML-KR 3 121361208 121361208 single base substitution T C downstream_gene_variant LAML-KR 3 121361208 121361208 single base substitution T C intron_variant LGG-US 3 121351926 121351926 single base substitution C A 3_prime_UTR_variant LGG-US 3 121351926 121351926 single base substitution C A downstream_gene_variant LGG-US 3 121351926 121351926 single base substitution C A exon_variant LGG-US 3 121351926 121351926 single base substitution C A missense_variant Q295H 885G>T LGG-US 3 121351926 121351926 single base substitution C A missense_variant Q332H 996G>T LICA-CN 3 121345614 121345614 single base substitution C A downstream_gene_variant LICA-CN 3 121351959 121351959 single base substitution C T 3_prime_UTR_variant LICA-CN 3 121351959 121351959 single base substitution C T downstream_gene_variant LICA-CN 3 121351959 121351959 single base substitution C T exon_variant LICA-CN 3 121351959 121351959 single base substitution C T synonymous_variant R284R 852G>A LICA-CN 3 121351959 121351959 single base substitution C T synonymous_variant R321R 963G>A LICA-FR 3 121357858 121357859 deletion of <=200bp AC - intron_variant LINC-JP 3 121350293 121350293 single base substitution A T 3_prime_UTR_variant LINC-JP 3 121350293 121350293 single base substitution A T downstream_gene_variant LINC-JP 3 121350293 121350293 single base substitution A T exon_variant LINC-JP 3 121351069 121351069 single base substitution T C downstream_gene_variant LINC-JP 3 121351069 121351069 single base substitution T C intron_variant LINC-JP 3 121351316 121351316 insertion of <=200bp - GGCTCAGGCTCA 3_prime_UTR_variant LINC-JP 3 121351316 121351316 insertion of <=200bp - GGCTCAGGCTCA disruptive_inframe_insertion P331PEPEP LINC-JP 3 121351316 121351316 insertion of <=200bp - GGCTCAGGCTCA disruptive_inframe_insertion P368PEPEP LINC-JP 3 121351316 121351316 insertion of <=200bp - GGCTCAGGCTCA downstream_gene_variant LINC-JP 3 121351316 121351316 insertion of <=200bp - GGCTCAGGCTCA exon_variant LINC-JP 3 121356338 121356338 single base substitution C A intron_variant LINC-JP 3 121357756 121357756 single base substitution T G intron_variant LINC-JP 3 121372585 121372585 single base substitution T C downstream_gene_variant LINC-JP 3 121372585 121372585 single base substitution T C exon_variant LINC-JP 3 121372585 121372585 single base substitution T C intron_variant LINC-JP 3 121374266 121374266 deletion of <=200bp T - downstream_gene_variant LINC-JP 3 121374266 121374266 deletion of <=200bp T - intron_variant LIRI-JP 3 121347906 121347906 single base substitution G A downstream_gene_variant LIRI-JP 3 121348379 121348379 single base substitution C T downstream_gene_variant LIRI-JP 3 121348521 121348521 single base substitution C T downstream_gene_variant LIRI-JP 3 121348549 121348549 single base substitution C A downstream_gene_variant LIRI-JP 3 121352800 121352800 single base substitution T A downstream_gene_variant LIRI-JP 3 121352800 121352800 single base substitution T A intron_variant LIRI-JP 3 121353023 121353023 single base substitution G A downstream_gene_variant LIRI-JP 3 121353023 121353023 single base substitution G A intron_variant LIRI-JP 3 121355031 121355031 single base substitution T A downstream_gene_variant LIRI-JP 3 121355031 121355031 single base substitution T A intron_variant LIRI-JP 3 121355377 121355377 single base substitution C T downstream_gene_variant LIRI-JP 3 121355377 121355377 single base substitution C T intron_variant LIRI-JP 3 121357370 121357370 single base substitution A G intron_variant LIRI-JP 3 121358161 121358161 single base substitution T A downstream_gene_variant LIRI-JP 3 121358161 121358161 single base substitution T A intron_variant LIRI-JP 3 121360262 121360262 single base substitution G T downstream_gene_variant LIRI-JP 3 121360262 121360262 single base substitution G T intron_variant LIRI-JP 3 121369143 121369143 single base substitution T A downstream_gene_variant LIRI-JP 3 121369143 121369143 single base substitution T A intron_variant LIRI-JP 3 121369532 121369532 single base substitution G T downstream_gene_variant LIRI-JP 3 121369532 121369532 single base substitution G T intron_variant LIRI-JP 3 121375563 121375563 single base substitution C G downstream_gene_variant LIRI-JP 3 121375563 121375563 single base substitution C G intron_variant LIRI-JP 3 121378145 121378145 single base substitution T C intron_variant LIRI-JP 3 121382800 121382800 single base substitution C T upstream_gene_variant LIRI-JP 3 121383177 121383177 single base substitution T C upstream_gene_variant LIRI-JP 3 121383511 121383511 deletion of <=200bp T - upstream_gene_variant LIRI-JP 3 121383991 121383991 single base substitution C T upstream_gene_variant LUSC-KR 3 121345527 121345527 single base substitution T A downstream_gene_variant LUSC-KR 3 121346419 121346419 single base substitution C G downstream_gene_variant LUSC-KR 3 121347769 121347769 single base substitution C T downstream_gene_variant LUSC-KR 3 121348952 121348952 single base substitution G A downstream_gene_variant LUSC-KR 3 121349848 121349848 single base substitution G A downstream_gene_variant LUSC-KR 3 121350451 121350451 single base substitution A C 3_prime_UTR_variant LUSC-KR 3 121350451 121350451 single base substitution A C downstream_gene_variant LUSC-KR 3 121350451 121350451 single base substitution A C exon_variant LUSC-KR 3 121352254 121352254 single base substitution G A downstream_gene_variant LUSC-KR 3 121352254 121352254 single base substitution G A intron_variant LUSC-KR 3 121353218 121353218 single base substitution C G 3_prime_UTR_variant LUSC-KR 3 121353218 121353218 single base substitution C G downstream_gene_variant LUSC-KR 3 121353218 121353218 single base substitution C G exon_variant LUSC-KR 3 121353218 121353218 single base substitution C G missense_variant E210Q 628G>C LUSC-KR 3 121353218 121353218 single base substitution C G missense_variant E247Q 739G>C LUSC-KR 3 121360033 121360033 single base substitution C A downstream_gene_variant LUSC-KR 3 121360033 121360033 single base substitution C A intron_variant LUSC-KR 3 121361846 121361846 single base substitution C G downstream_gene_variant LUSC-KR 3 121361846 121361846 single base substitution C G exon_variant LUSC-KR 3 121361846 121361846 single base substitution C G intron_variant LUSC-KR 3 121368359 121368359 single base substitution G T downstream_gene_variant LUSC-KR 3 121368359 121368359 single base substitution G T intron_variant LUSC-KR 3 121368811 121368811 single base substitution G A downstream_gene_variant LUSC-KR 3 121368811 121368811 single base substitution G A intron_variant LUSC-KR 3 121369534 121369534 single base substitution C G downstream_gene_variant LUSC-KR 3 121369534 121369534 single base substitution C G intron_variant LUSC-KR 3 121375323 121375323 single base substitution G C downstream_gene_variant LUSC-KR 3 121375323 121375323 single base substitution G C intron_variant LUSC-KR 3 121375767 121375767 single base substitution C A downstream_gene_variant LUSC-KR 3 121375767 121375767 single base substitution C A exon_variant LUSC-KR 3 121375767 121375767 single base substitution C A intron_variant LUSC-KR 3 121376698 121376698 single base substitution G C downstream_gene_variant LUSC-KR 3 121376698 121376698 single base substitution G C intron_variant LUSC-KR 3 121382180 121382180 single base substitution A G upstream_gene_variant LUSC-KR 3 121384148 121384148 single base substitution C T upstream_gene_variant LUSC-US 3 121345583 121345583 single base substitution G T downstream_gene_variant LUSC-US 3 121350949 121350949 single base substitution T A downstream_gene_variant LUSC-US 3 121350949 121350949 single base substitution T A splice_region_variant LUSC-US 3 121351918 121351918 single base substitution G A 3_prime_UTR_variant LUSC-US 3 121351918 121351918 single base substitution G A downstream_gene_variant LUSC-US 3 121351918 121351918 single base substitution G A exon_variant LUSC-US 3 121351918 121351918 single base substitution G A missense_variant P298L 893C>T LUSC-US 3 121351918 121351918 single base substitution G A missense_variant P335L 1004C>T LUSC-US 3 121356041 121356041 single base substitution G C 3_prime_UTR_variant LUSC-US 3 121356041 121356041 single base substitution G C exon_variant LUSC-US 3 121356041 121356041 single base substitution G C intron_variant LUSC-US 3 121356041 121356041 single base substitution G C missense_variant L173V 517C>G LUSC-US 3 121363748 121363748 single base substitution C A 3_prime_UTR_variant LUSC-US 3 121363748 121363748 single base substitution C A exon_variant LUSC-US 3 121363748 121363748 single base substitution C A stop_gained E106* 316G>T LUSC-US 3 121363748 121363748 single base substitution C A upstream_gene_variant MALY-DE 3 121348834 121348834 single base substitution G A downstream_gene_variant MALY-DE 3 121359104 121359104 single base substitution A G downstream_gene_variant MALY-DE 3 121359104 121359104 single base substitution A G intron_variant MALY-DE 3 121364438 121364438 single base substitution G C intron_variant MALY-DE 3 121364438 121364438 single base substitution G C upstream_gene_variant MALY-DE 3 121370157 121370157 single base substitution T G downstream_gene_variant MALY-DE 3 121370157 121370157 single base substitution T G intron_variant MELA-AU 3 121345367 121345367 single base substitution G A downstream_gene_variant MELA-AU 3 121345375 121345375 single base substitution G A downstream_gene_variant MELA-AU 3 121345465 121345465 single base substitution C T downstream_gene_variant MELA-AU 3 121345609 121345609 single base substitution C T downstream_gene_variant MELA-AU 3 121345629 121345629 single base substitution C T downstream_gene_variant MELA-AU 3 121345751 121345751 single base substitution C T downstream_gene_variant MELA-AU 3 121345928 121345928 single base substitution C T downstream_gene_variant MELA-AU 3 121345973 121345973 single base substitution C T downstream_gene_variant MELA-AU 3 121346007 121346007 single base substitution C T downstream_gene_variant MELA-AU 3 121346069 121346069 single base substitution C T downstream_gene_variant MELA-AU 3 121346083 121346083 single base substitution G A downstream_gene_variant MELA-AU 3 121346175 121346175 single base substitution G A downstream_gene_variant MELA-AU 3 121346199 121346200 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 121346308 121346308 single base substitution C T downstream_gene_variant MELA-AU 3 121346601 121346601 single base substitution C T downstream_gene_variant MELA-AU 3 121346779 121346779 single base substitution G A downstream_gene_variant MELA-AU 3 121347043 121347044 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 121347257 121347257 single base substitution C T downstream_gene_variant MELA-AU 3 121347356 121347356 single base substitution G A downstream_gene_variant MELA-AU 3 121347371 121347371 single base substitution C T downstream_gene_variant MELA-AU 3 121347468 121347468 single base substitution C T downstream_gene_variant MELA-AU 3 121347469 121347469 single base substitution C T downstream_gene_variant MELA-AU 3 121347473 121347473 single base substitution G A downstream_gene_variant MELA-AU 3 121347562 121347562 single base substitution C T downstream_gene_variant MELA-AU 3 121347598 121347598 single base substitution G A downstream_gene_variant MELA-AU 3 121347653 121347653 single base substitution C T downstream_gene_variant MELA-AU 3 121347764 121347764 single base substitution C T downstream_gene_variant MELA-AU 3 121348035 121348035 single base substitution C T downstream_gene_variant MELA-AU 3 121348222 121348222 single base substitution G A downstream_gene_variant MELA-AU 3 121348223 121348223 single base substitution G A downstream_gene_variant MELA-AU 3 121348580 121348580 single base substitution G C downstream_gene_variant MELA-AU 3 121348684 121348684 single base substitution G A downstream_gene_variant MELA-AU 3 121348782 121348782 single base substitution G A downstream_gene_variant MELA-AU 3 121349106 121349106 single base substitution C T downstream_gene_variant MELA-AU 3 121349423 121349423 single base substitution G A downstream_gene_variant MELA-AU 3 121349634 121349634 single base substitution G A downstream_gene_variant MELA-AU 3 121349931 121349931 single base substitution C T downstream_gene_variant MELA-AU 3 121350276 121350276 single base substitution G A 3_prime_UTR_variant MELA-AU 3 121350276 121350276 single base substitution G A downstream_gene_variant MELA-AU 3 121350276 121350276 single base substitution G A exon_variant MELA-AU 3 121350377 121350377 single base substitution C T 3_prime_UTR_variant MELA-AU 3 121350377 121350377 single base substitution C T downstream_gene_variant MELA-AU 3 121350377 121350377 single base substitution C T exon_variant MELA-AU 3 121350504 121350504 single base substitution G A 3_prime_UTR_variant MELA-AU 3 121350504 121350504 single base substitution G A downstream_gene_variant MELA-AU 3 121350504 121350504 single base substitution G A exon_variant MELA-AU 3 121350578 121350578 single base substitution G A 3_prime_UTR_variant MELA-AU 3 121350578 121350578 single base substitution G A downstream_gene_variant MELA-AU 3 121350578 121350578 single base substitution G A exon_variant MELA-AU 3 121350678 121350678 single base substitution G A 3_prime_UTR_variant MELA-AU 3 121350678 121350678 single base substitution G A downstream_gene_variant MELA-AU 3 121350678 121350678 single base substitution G A exon_variant MELA-AU 3 121350773 121350774 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 121350773 121350774 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 3 121350773 121350774 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant MV423IM MELA-AU 3 121350773 121350774 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant MV460IM MELA-AU 3 121350806 121350806 single base substitution C T downstream_gene_variant MELA-AU 3 121350806 121350806 single base substitution C T exon_variant MELA-AU 3 121350806 121350806 single base substitution C T missense_variant D413N 1237G>A MELA-AU 3 121350806 121350806 single base substitution C T missense_variant D450N 1348G>A MELA-AU 3 121350960 121350960 single base substitution C T downstream_gene_variant MELA-AU 3 121350960 121350960 single base substitution C T exon_variant MELA-AU 3 121350960 121350960 single base substitution C T missense_variant D401N 1201G>A MELA-AU 3 121350960 121350960 single base substitution C T missense_variant D438N 1312G>A MELA-AU 3 121351015 121351015 single base substitution C T downstream_gene_variant MELA-AU 3 121351015 121351015 single base substitution C T exon_variant MELA-AU 3 121351015 121351015 single base substitution C T synonymous_variant P382P 1146G>A MELA-AU 3 121351015 121351015 single base substitution C T synonymous_variant P419P 1257G>A MELA-AU 3 121351017 121351017 single base substitution G A downstream_gene_variant MELA-AU 3 121351017 121351017 single base substitution G A exon_variant MELA-AU 3 121351017 121351017 single base substitution G A missense_variant P382S 1144C>T MELA-AU 3 121351017 121351017 single base substitution G A missense_variant P419S 1255C>T MELA-AU 3 121351018 121351018 single base substitution G A downstream_gene_variant MELA-AU 3 121351018 121351018 single base substitution G A exon_variant MELA-AU 3 121351018 121351018 single base substitution G A synonymous_variant C381C 1143C>T MELA-AU 3 121351018 121351018 single base substitution G A synonymous_variant C418C 1254C>T MELA-AU 3 121351118 121351119 multiple base substitution (>=2bp and <=200bp) TC AT downstream_gene_variant MELA-AU 3 121351118 121351119 multiple base substitution (>=2bp and <=200bp) TC AT intron_variant MELA-AU 3 121351234 121351234 single base substitution C T downstream_gene_variant MELA-AU 3 121351234 121351234 single base substitution C T exon_variant MELA-AU 3 121351234 121351234 single base substitution C T synonymous_variant G358G 1074G>A MELA-AU 3 121351234 121351234 single base substitution C T synonymous_variant G395G 1185G>A MELA-AU 3 121351450 121351450 single base substitution C T downstream_gene_variant MELA-AU 3 121351450 121351450 single base substitution C T intron_variant MELA-AU 3 121351481 121351481 single base substitution C T downstream_gene_variant MELA-AU 3 121351481 121351481 single base substitution C T intron_variant MELA-AU 3 121351484 121351484 single base substitution C T downstream_gene_variant MELA-AU 3 121351484 121351484 single base substitution C T intron_variant MELA-AU 3 121351576 121351576 single base substitution C T downstream_gene_variant MELA-AU 3 121351576 121351576 single base substitution C T intron_variant MELA-AU 3 121351657 121351657 single base substitution G A downstream_gene_variant MELA-AU 3 121351657 121351657 single base substitution G A intron_variant MELA-AU 3 121352298 121352298 single base substitution T C downstream_gene_variant MELA-AU 3 121352298 121352298 single base substitution T C intron_variant MELA-AU 3 121352354 121352354 single base substitution C T downstream_gene_variant MELA-AU 3 121352354 121352354 single base substitution C T intron_variant MELA-AU 3 121352636 121352636 single base substitution C T downstream_gene_variant MELA-AU 3 121352636 121352636 single base substitution C T intron_variant MELA-AU 3 121352657 121352657 single base substitution G A downstream_gene_variant MELA-AU 3 121352657 121352657 single base substitution G A intron_variant MELA-AU 3 121352681 121352681 single base substitution C T downstream_gene_variant MELA-AU 3 121352681 121352681 single base substitution C T intron_variant MELA-AU 3 121352754 121352754 single base substitution C T downstream_gene_variant MELA-AU 3 121352754 121352754 single base substitution C T intron_variant MELA-AU 3 121352768 121352768 single base substitution C A downstream_gene_variant MELA-AU 3 121352768 121352768 single base substitution C A intron_variant MELA-AU 3 121352972 121352972 single base substitution T A downstream_gene_variant MELA-AU 3 121352972 121352972 single base substitution T A intron_variant MELA-AU 3 121353024 121353024 single base substitution G A downstream_gene_variant MELA-AU 3 121353024 121353024 single base substitution G A intron_variant MELA-AU 3 121353159 121353159 single base substitution C T 3_prime_UTR_variant MELA-AU 3 121353159 121353159 single base substitution C T downstream_gene_variant MELA-AU 3 121353159 121353159 single base substitution C T exon_variant MELA-AU 3 121353159 121353159 single base substitution C T synonymous_variant Q229Q 687G>A MELA-AU 3 121353159 121353159 single base substitution C T synonymous_variant Q266Q 798G>A MELA-AU 3 121353237 121353237 single base substitution C T 3_prime_UTR_variant MELA-AU 3 121353237 121353237 single base substitution C T downstream_gene_variant MELA-AU 3 121353237 121353237 single base substitution C T exon_variant MELA-AU 3 121353237 121353237 single base substitution C T synonymous_variant A203A 609G>A MELA-AU 3 121353237 121353237 single base substitution C T synonymous_variant A240A 720G>A MELA-AU 3 121353336 121353336 single base substitution G A downstream_gene_variant MELA-AU 3 121353336 121353336 single base substitution G A intron_variant MELA-AU 3 121353364 121353364 single base substitution G A downstream_gene_variant MELA-AU 3 121353364 121353364 single base substitution G A intron_variant MELA-AU 3 121353402 121353402 single base substitution G A downstream_gene_variant MELA-AU 3 121353402 121353402 single base substitution G A intron_variant MELA-AU 3 121353409 121353409 single base substitution G A downstream_gene_variant MELA-AU 3 121353409 121353409 single base substitution G A intron_variant MELA-AU 3 121353415 121353415 single base substitution G A downstream_gene_variant MELA-AU 3 121353415 121353415 single base substitution G A intron_variant MELA-AU 3 121353621 121353621 single base substitution G A downstream_gene_variant MELA-AU 3 121353621 121353621 single base substitution G A intron_variant MELA-AU 3 121353761 121353761 single base substitution G A downstream_gene_variant MELA-AU 3 121353761 121353761 single base substitution G A intron_variant MELA-AU 3 121353966 121353966 single base substitution C T downstream_gene_variant MELA-AU 3 121353966 121353966 single base substitution C T intron_variant MELA-AU 3 121354000 121354000 single base substitution C T downstream_gene_variant MELA-AU 3 121354000 121354000 single base substitution C T intron_variant MELA-AU 3 121354045 121354046 multiple base substitution (>=2bp and <=200bp) CT TC downstream_gene_variant MELA-AU 3 121354045 121354046 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 3 121354321 121354321 single base substitution C T downstream_gene_variant MELA-AU 3 121354321 121354321 single base substitution C T intron_variant MELA-AU 3 121354448 121354448 single base substitution G A downstream_gene_variant MELA-AU 3 121354448 121354448 single base substitution G A intron_variant MELA-AU 3 121354521 121354521 single base substitution G A downstream_gene_variant MELA-AU 3 121354521 121354521 single base substitution G A intron_variant MELA-AU 3 121354820 121354820 single base substitution G A downstream_gene_variant MELA-AU 3 121354820 121354820 single base substitution G A intron_variant MELA-AU 3 121354939 121354939 single base substitution G A downstream_gene_variant MELA-AU 3 121354939 121354939 single base substitution G A intron_variant MELA-AU 3 121354973 121354973 single base substitution G A downstream_gene_variant MELA-AU 3 121354973 121354973 single base substitution G A intron_variant MELA-AU 3 121355138 121355138 single base substitution G A downstream_gene_variant MELA-AU 3 121355138 121355138 single base substitution G A intron_variant MELA-AU 3 121355189 121355189 single base substitution C A downstream_gene_variant MELA-AU 3 121355189 121355189 single base substitution C A intron_variant MELA-AU 3 121355302 121355302 single base substitution G A downstream_gene_variant MELA-AU 3 121355302 121355302 single base substitution G A exon_variant MELA-AU 3 121355302 121355302 single base substitution G A synonymous_variant I163I 489C>T MELA-AU 3 121355302 121355302 single base substitution G A synonymous_variant I200I 600C>T MELA-AU 3 121355412 121355412 single base substitution A T downstream_gene_variant MELA-AU 3 121355412 121355412 single base substitution A T intron_variant MELA-AU 3 121355419 121355419 single base substitution G A downstream_gene_variant MELA-AU 3 121355419 121355419 single base substitution G A intron_variant MELA-AU 3 121355443 121355443 single base substitution G A downstream_gene_variant MELA-AU 3 121355443 121355443 single base substitution G A intron_variant MELA-AU 3 121355461 121355461 single base substitution G A downstream_gene_variant MELA-AU 3 121355461 121355461 single base substitution G A intron_variant MELA-AU 3 121355469 121355469 single base substitution G A downstream_gene_variant MELA-AU 3 121355469 121355469 single base substitution G A intron_variant MELA-AU 3 121355539 121355539 single base substitution G A downstream_gene_variant MELA-AU 3 121355539 121355539 single base substitution G A intron_variant MELA-AU 3 121355555 121355555 single base substitution G A downstream_gene_variant MELA-AU 3 121355555 121355555 single base substitution G A intron_variant MELA-AU 3 121355562 121355562 single base substitution G A downstream_gene_variant MELA-AU 3 121355562 121355562 single base substitution G A intron_variant MELA-AU 3 121355637 121355637 single base substitution C T downstream_gene_variant MELA-AU 3 121355637 121355637 single base substitution C T intron_variant MELA-AU 3 121355919 121355919 single base substitution G A downstream_gene_variant MELA-AU 3 121355919 121355919 single base substitution G A intron_variant MELA-AU 3 121355937 121355937 single base substitution G A downstream_gene_variant MELA-AU 3 121355937 121355937 single base substitution G A intron_variant MELA-AU 3 121356112 121356112 single base substitution G A intron_variant MELA-AU 3 121356123 121356123 single base substitution C T intron_variant MELA-AU 3 121356155 121356155 single base substitution G A intron_variant MELA-AU 3 121356171 121356171 single base substitution G A intron_variant MELA-AU 3 121356248 121356248 single base substitution G A intron_variant MELA-AU 3 121356301 121356301 single base substitution C T intron_variant MELA-AU 3 121356376 121356376 single base substitution G A intron_variant MELA-AU 3 121356500 121356500 single base substitution C T intron_variant MELA-AU 3 121356548 121356548 single base substitution G A intron_variant MELA-AU 3 121356819 121356819 single base substitution G A intron_variant MELA-AU 3 121356827 121356827 single base substitution C T intron_variant MELA-AU 3 121356902 121356902 single base substitution G A intron_variant MELA-AU 3 121356925 121356925 single base substitution G A intron_variant MELA-AU 3 121357104 121357104 single base substitution C T intron_variant MELA-AU 3 121357116 121357117 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 121357135 121357135 single base substitution C T intron_variant MELA-AU 3 121357148 121357148 single base substitution G A intron_variant MELA-AU 3 121357239 121357239 single base substitution G A intron_variant MELA-AU 3 121357404 121357404 single base substitution G A intron_variant MELA-AU 3 121357412 121357412 single base substitution G A intron_variant MELA-AU 3 121357535 121357535 single base substitution C T intron_variant MELA-AU 3 121357663 121357663 single base substitution C T intron_variant MELA-AU 3 121357671 121357671 single base substitution C T intron_variant MELA-AU 3 121357825 121357825 single base substitution C T intron_variant MELA-AU 3 121358188 121358188 single base substitution C T downstream_gene_variant MELA-AU 3 121358188 121358188 single base substitution C T intron_variant MELA-AU 3 121358222 121358222 single base substitution C T downstream_gene_variant MELA-AU 3 121358222 121358222 single base substitution C T intron_variant MELA-AU 3 121358274 121358274 single base substitution C T downstream_gene_variant MELA-AU 3 121358274 121358274 single base substitution C T intron_variant MELA-AU 3 121358347 121358347 single base substitution G A downstream_gene_variant MELA-AU 3 121358347 121358347 single base substitution G A intron_variant MELA-AU 3 121358372 121358373 multiple base substitution (>=2bp and <=200bp) TA AT downstream_gene_variant MELA-AU 3 121358372 121358373 multiple base substitution (>=2bp and <=200bp) TA AT intron_variant MELA-AU 3 121358629 121358629 single base substitution G A downstream_gene_variant MELA-AU 3 121358629 121358629 single base substitution G A intron_variant MELA-AU 3 121358665 121358665 single base substitution G A downstream_gene_variant MELA-AU 3 121358665 121358665 single base substitution G A intron_variant MELA-AU 3 121358678 121358678 single base substitution C T downstream_gene_variant MELA-AU 3 121358678 121358678 single base substitution C T intron_variant MELA-AU 3 121358836 121358836 single base substitution G A downstream_gene_variant MELA-AU 3 121358836 121358836 single base substitution G A intron_variant MELA-AU 3 121358915 121358915 single base substitution G A downstream_gene_variant MELA-AU 3 121358915 121358915 single base substitution G A intron_variant MELA-AU 3 121359001 121359001 single base substitution C A downstream_gene_variant MELA-AU 3 121359001 121359001 single base substitution C A intron_variant MELA-AU 3 121359088 121359088 single base substitution A G downstream_gene_variant MELA-AU 3 121359088 121359088 single base substitution A G intron_variant MELA-AU 3 121359165 121359165 single base substitution C T downstream_gene_variant MELA-AU 3 121359165 121359165 single base substitution C T intron_variant MELA-AU 3 121359187 121359187 single base substitution A G downstream_gene_variant MELA-AU 3 121359187 121359187 single base substitution A G intron_variant MELA-AU 3 121359188 121359188 single base substitution C T downstream_gene_variant MELA-AU 3 121359188 121359188 single base substitution C T intron_variant MELA-AU 3 121359200 121359200 single base substitution G A downstream_gene_variant MELA-AU 3 121359200 121359200 single base substitution G A intron_variant MELA-AU 3 121359406 121359406 single base substitution G A downstream_gene_variant MELA-AU 3 121359406 121359406 single base substitution G A intron_variant MELA-AU 3 121359485 121359485 single base substitution G A downstream_gene_variant MELA-AU 3 121359485 121359485 single base substitution G A intron_variant MELA-AU 3 121359920 121359920 single base substitution C T downstream_gene_variant MELA-AU 3 121359920 121359920 single base substitution C T intron_variant MELA-AU 3 121360244 121360244 single base substitution G A downstream_gene_variant MELA-AU 3 121360244 121360244 single base substitution G A intron_variant MELA-AU 3 121360318 121360318 single base substitution G A downstream_gene_variant MELA-AU 3 121360318 121360318 single base substitution G A intron_variant MELA-AU 3 121360952 121360952 single base substitution C T downstream_gene_variant MELA-AU 3 121360952 121360952 single base substitution C T intron_variant MELA-AU 3 121361188 121361188 single base substitution C T downstream_gene_variant MELA-AU 3 121361188 121361188 single base substitution C T intron_variant MELA-AU 3 121361210 121361210 single base substitution G A downstream_gene_variant MELA-AU 3 121361210 121361210 single base substitution G A intron_variant MELA-AU 3 121361374 121361374 single base substitution C T downstream_gene_variant MELA-AU 3 121361374 121361374 single base substitution C T intron_variant MELA-AU 3 121361759 121361759 single base substitution G A downstream_gene_variant MELA-AU 3 121361759 121361759 single base substitution G A intron_variant MELA-AU 3 121363028 121363028 single base substitution T A downstream_gene_variant MELA-AU 3 121363028 121363028 single base substitution T A exon_variant MELA-AU 3 121363028 121363028 single base substitution T A intron_variant MELA-AU 3 121363865 121363865 single base substitution G A intron_variant MELA-AU 3 121363865 121363865 single base substitution G A upstream_gene_variant MELA-AU 3 121363913 121363913 single base substitution G A intron_variant MELA-AU 3 121363913 121363913 single base substitution G A upstream_gene_variant MELA-AU 3 121364400 121364400 single base substitution C T intron_variant MELA-AU 3 121364400 121364400 single base substitution C T upstream_gene_variant MELA-AU 3 121364673 121364673 single base substitution A G intron_variant MELA-AU 3 121364673 121364673 single base substitution A G upstream_gene_variant MELA-AU 3 121366040 121366040 single base substitution G A intron_variant MELA-AU 3 121366040 121366040 single base substitution G A upstream_gene_variant MELA-AU 3 121366099 121366099 single base substitution A C intron_variant MELA-AU 3 121366099 121366099 single base substitution A C upstream_gene_variant MELA-AU 3 121366154 121366154 single base substitution C T intron_variant MELA-AU 3 121366154 121366154 single base substitution C T upstream_gene_variant MELA-AU 3 121366280 121366280 single base substitution C T exon_variant MELA-AU 3 121366280 121366280 single base substitution C T intron_variant MELA-AU 3 121366280 121366280 single base substitution C T synonymous_variant R58R 174G>A MELA-AU 3 121366280 121366280 single base substitution C T upstream_gene_variant MELA-AU 3 121366563 121366563 single base substitution C T intron_variant MELA-AU 3 121366563 121366563 single base substitution C T upstream_gene_variant MELA-AU 3 121366798 121366798 single base substitution C T intron_variant MELA-AU 3 121366798 121366798 single base substitution C T upstream_gene_variant MELA-AU 3 121366893 121366893 single base substitution G A intron_variant MELA-AU 3 121366893 121366893 single base substitution G A upstream_gene_variant MELA-AU 3 121367042 121367042 single base substitution G A intron_variant MELA-AU 3 121367042 121367042 single base substitution G A upstream_gene_variant MELA-AU 3 121367076 121367076 single base substitution G A intron_variant MELA-AU 3 121367076 121367076 single base substitution G A upstream_gene_variant MELA-AU 3 121367305 121367305 single base substitution G A intron_variant MELA-AU 3 121367305 121367305 single base substitution G A upstream_gene_variant MELA-AU 3 121367478 121367478 single base substitution G A downstream_gene_variant MELA-AU 3 121367478 121367478 single base substitution G A intron_variant MELA-AU 3 121367478 121367478 single base substitution G A upstream_gene_variant MELA-AU 3 121367527 121367527 single base substitution C T downstream_gene_variant MELA-AU 3 121367527 121367527 single base substitution C T intron_variant MELA-AU 3 121367527 121367527 single base substitution C T upstream_gene_variant MELA-AU 3 121367535 121367535 single base substitution T C downstream_gene_variant MELA-AU 3 121367535 121367535 single base substitution T C intron_variant MELA-AU 3 121367535 121367535 single base substitution T C upstream_gene_variant MELA-AU 3 121367578 121367578 single base substitution C T downstream_gene_variant MELA-AU 3 121367578 121367578 single base substitution C T intron_variant MELA-AU 3 121367578 121367578 single base substitution C T upstream_gene_variant MELA-AU 3 121367607 121367607 single base substitution G A downstream_gene_variant MELA-AU 3 121367607 121367607 single base substitution G A intron_variant MELA-AU 3 121367607 121367607 single base substitution G A upstream_gene_variant MELA-AU 3 121367629 121367629 single base substitution G A downstream_gene_variant MELA-AU 3 121367629 121367629 single base substitution G A intron_variant MELA-AU 3 121367629 121367629 single base substitution G A upstream_gene_variant MELA-AU 3 121367672 121367672 single base substitution C T downstream_gene_variant MELA-AU 3 121367672 121367672 single base substitution C T intron_variant MELA-AU 3 121367672 121367672 single base substitution C T upstream_gene_variant MELA-AU 3 121367845 121367845 single base substitution G A downstream_gene_variant MELA-AU 3 121367845 121367845 single base substitution G A intron_variant MELA-AU 3 121367845 121367845 single base substitution G A upstream_gene_variant MELA-AU 3 121367851 121367851 single base substitution A T downstream_gene_variant MELA-AU 3 121367851 121367851 single base substitution A T intron_variant MELA-AU 3 121367851 121367851 single base substitution A T upstream_gene_variant MELA-AU 3 121367870 121367870 single base substitution A C downstream_gene_variant MELA-AU 3 121367870 121367870 single base substitution A C intron_variant MELA-AU 3 121367870 121367870 single base substitution A C upstream_gene_variant MELA-AU 3 121367928 121367928 single base substitution G A downstream_gene_variant MELA-AU 3 121367928 121367928 single base substitution G A intron_variant MELA-AU 3 121367928 121367928 single base substitution G A upstream_gene_variant MELA-AU 3 121368014 121368014 single base substitution G A downstream_gene_variant MELA-AU 3 121368014 121368014 single base substitution G A intron_variant MELA-AU 3 121368014 121368014 single base substitution G A upstream_gene_variant MELA-AU 3 121368339 121368339 single base substitution C T downstream_gene_variant MELA-AU 3 121368339 121368339 single base substitution C T intron_variant MELA-AU 3 121368397 121368397 single base substitution C T downstream_gene_variant MELA-AU 3 121368397 121368397 single base substitution C T intron_variant MELA-AU 3 121368563 121368563 single base substitution G A downstream_gene_variant MELA-AU 3 121368563 121368563 single base substitution G A intron_variant MELA-AU 3 121368772 121368772 single base substitution C T downstream_gene_variant MELA-AU 3 121368772 121368772 single base substitution C T intron_variant MELA-AU 3 121368905 121368905 single base substitution G A downstream_gene_variant MELA-AU 3 121368905 121368905 single base substitution G A intron_variant MELA-AU 3 121368954 121368954 single base substitution G A downstream_gene_variant MELA-AU 3 121368954 121368954 single base substitution G A intron_variant MELA-AU 3 121369269 121369269 single base substitution A G downstream_gene_variant MELA-AU 3 121369269 121369269 single base substitution A G intron_variant MELA-AU 3 121369414 121369414 single base substitution A T downstream_gene_variant MELA-AU 3 121369414 121369414 single base substitution A T intron_variant MELA-AU 3 121369444 121369444 single base substitution G A downstream_gene_variant MELA-AU 3 121369444 121369444 single base substitution G A intron_variant MELA-AU 3 121369559 121369559 single base substitution G T downstream_gene_variant MELA-AU 3 121369559 121369559 single base substitution G T intron_variant MELA-AU 3 121369594 121369594 single base substitution C T downstream_gene_variant MELA-AU 3 121369594 121369594 single base substitution C T intron_variant MELA-AU 3 121369909 121369909 single base substitution G A downstream_gene_variant MELA-AU 3 121369909 121369909 single base substitution G A intron_variant MELA-AU 3 121370640 121370640 single base substitution G A downstream_gene_variant MELA-AU 3 121370640 121370640 single base substitution G A intron_variant MELA-AU 3 121370951 121370951 single base substitution G A downstream_gene_variant MELA-AU 3 121370951 121370951 single base substitution G A intron_variant MELA-AU 3 121371003 121371003 single base substitution T A downstream_gene_variant MELA-AU 3 121371003 121371003 single base substitution T A intron_variant MELA-AU 3 121371004 121371004 single base substitution C T downstream_gene_variant MELA-AU 3 121371004 121371004 single base substitution C T intron_variant MELA-AU 3 121371093 121371093 single base substitution G A downstream_gene_variant MELA-AU 3 121371093 121371093 single base substitution G A intron_variant MELA-AU 3 121371095 121371095 single base substitution A C downstream_gene_variant MELA-AU 3 121371095 121371095 single base substitution A C intron_variant MELA-AU 3 121371293 121371293 single base substitution G A downstream_gene_variant MELA-AU 3 121371293 121371293 single base substitution G A intron_variant MELA-AU 3 121371408 121371408 single base substitution G A downstream_gene_variant MELA-AU 3 121371408 121371408 single base substitution G A intron_variant MELA-AU 3 121371494 121371494 single base substitution G A downstream_gene_variant MELA-AU 3 121371494 121371494 single base substitution G A intron_variant MELA-AU 3 121371560 121371560 single base substitution G A downstream_gene_variant MELA-AU 3 121371560 121371560 single base substitution G A intron_variant MELA-AU 3 121372032 121372032 single base substitution C T downstream_gene_variant MELA-AU 3 121372032 121372032 single base substitution C T intron_variant MELA-AU 3 121372103 121372103 single base substitution G A downstream_gene_variant MELA-AU 3 121372103 121372103 single base substitution G A intron_variant MELA-AU 3 121372138 121372138 single base substitution A G downstream_gene_variant MELA-AU 3 121372138 121372138 single base substitution A G intron_variant MELA-AU 3 121372214 121372214 single base substitution G A downstream_gene_variant MELA-AU 3 121372214 121372214 single base substitution G A intron_variant MELA-AU 3 121372250 121372250 single base substitution T A downstream_gene_variant MELA-AU 3 121372250 121372250 single base substitution T A intron_variant MELA-AU 3 121372261 121372261 single base substitution C A downstream_gene_variant MELA-AU 3 121372261 121372261 single base substitution C A intron_variant MELA-AU 3 121372282 121372282 single base substitution G A downstream_gene_variant MELA-AU 3 121372282 121372282 single base substitution G A intron_variant MELA-AU 3 121372289 121372289 single base substitution G A downstream_gene_variant MELA-AU 3 121372289 121372289 single base substitution G A intron_variant MELA-AU 3 121372512 121372512 single base substitution C T downstream_gene_variant MELA-AU 3 121372512 121372512 single base substitution C T exon_variant MELA-AU 3 121372512 121372512 single base substitution C T intron_variant MELA-AU 3 121372525 121372525 single base substitution G A downstream_gene_variant MELA-AU 3 121372525 121372525 single base substitution G A exon_variant MELA-AU 3 121372525 121372525 single base substitution G A intron_variant MELA-AU 3 121372856 121372856 single base substitution C T downstream_gene_variant MELA-AU 3 121372856 121372856 single base substitution C T intron_variant MELA-AU 3 121373021 121373021 single base substitution G A downstream_gene_variant MELA-AU 3 121373021 121373021 single base substitution G A intron_variant MELA-AU 3 121373026 121373026 single base substitution C T downstream_gene_variant MELA-AU 3 121373026 121373026 single base substitution C T intron_variant MELA-AU 3 121373035 121373035 single base substitution G A downstream_gene_variant MELA-AU 3 121373035 121373035 single base substitution G A intron_variant MELA-AU 3 121373305 121373305 single base substitution A G downstream_gene_variant MELA-AU 3 121373305 121373305 single base substitution A G intron_variant MELA-AU 3 121373333 121373333 single base substitution G A downstream_gene_variant MELA-AU 3 121373333 121373333 single base substitution G A intron_variant MELA-AU 3 121373407 121373407 single base substitution G A downstream_gene_variant MELA-AU 3 121373407 121373407 single base substitution G A intron_variant MELA-AU 3 121373982 121373982 single base substitution G A downstream_gene_variant MELA-AU 3 121373982 121373982 single base substitution G A intron_variant MELA-AU 3 121374258 121374258 single base substitution G A downstream_gene_variant MELA-AU 3 121374258 121374258 single base substitution G A intron_variant MELA-AU 3 121374284 121374284 single base substitution C G downstream_gene_variant MELA-AU 3 121374284 121374284 single base substitution C G intron_variant MELA-AU 3 121374295 121374295 single base substitution G A downstream_gene_variant MELA-AU 3 121374295 121374295 single base substitution G A intron_variant MELA-AU 3 121374671 121374671 insertion of <=200bp - ATTT downstream_gene_variant MELA-AU 3 121374671 121374671 insertion of <=200bp - ATTT intron_variant MELA-AU 3 121375365 121375365 single base substitution G A downstream_gene_variant MELA-AU 3 121375365 121375365 single base substitution G A intron_variant MELA-AU 3 121375455 121375455 single base substitution G A downstream_gene_variant MELA-AU 3 121375455 121375455 single base substitution G A intron_variant MELA-AU 3 121375482 121375482 single base substitution C T downstream_gene_variant MELA-AU 3 121375482 121375482 single base substitution C T intron_variant MELA-AU 3 121375715 121375715 single base substitution C T downstream_gene_variant MELA-AU 3 121375715 121375715 single base substitution C T intron_variant MELA-AU 3 121375762 121375762 single base substitution G A downstream_gene_variant MELA-AU 3 121375762 121375762 single base substitution G A exon_variant MELA-AU 3 121375762 121375762 single base substitution G A intron_variant MELA-AU 3 121375930 121375930 single base substitution G A downstream_gene_variant MELA-AU 3 121375930 121375930 single base substitution G A exon_variant MELA-AU 3 121375930 121375930 single base substitution G A intron_variant MELA-AU 3 121375945 121375945 single base substitution G A downstream_gene_variant MELA-AU 3 121375945 121375945 single base substitution G A exon_variant MELA-AU 3 121375945 121375945 single base substitution G A intron_variant MELA-AU 3 121376021 121376021 single base substitution G A downstream_gene_variant MELA-AU 3 121376021 121376021 single base substitution G A exon_variant MELA-AU 3 121376021 121376021 single base substitution G A intron_variant MELA-AU 3 121376116 121376116 single base substitution C T downstream_gene_variant MELA-AU 3 121376116 121376116 single base substitution C T exon_variant MELA-AU 3 121376116 121376116 single base substitution C T intron_variant MELA-AU 3 121376410 121376410 single base substitution C T downstream_gene_variant MELA-AU 3 121376410 121376410 single base substitution C T intron_variant MELA-AU 3 121377156 121377156 single base substitution G A exon_variant MELA-AU 3 121377156 121377156 single base substitution G A synonymous_variant S13S 39C>T MELA-AU 3 121377716 121377716 single base substitution C T intron_variant MELA-AU 3 121377794 121377794 single base substitution G A intron_variant MELA-AU 3 121377840 121377840 single base substitution G A intron_variant MELA-AU 3 121377926 121377926 single base substitution T C intron_variant MELA-AU 3 121378059 121378059 single base substitution T C intron_variant MELA-AU 3 121378202 121378202 single base substitution C T intron_variant MELA-AU 3 121378231 121378231 single base substitution A T intron_variant MELA-AU 3 121378680 121378680 single base substitution G A intron_variant MELA-AU 3 121378925 121378925 single base substitution G A intron_variant MELA-AU 3 121378945 121378945 single base substitution C A intron_variant MELA-AU 3 121379150 121379150 single base substitution C T intron_variant MELA-AU 3 121380045 121380045 single base substitution G A upstream_gene_variant MELA-AU 3 121380123 121380123 single base substitution G A upstream_gene_variant MELA-AU 3 121380131 121380131 single base substitution G A upstream_gene_variant MELA-AU 3 121380278 121380279 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 121380470 121380470 single base substitution G A upstream_gene_variant MELA-AU 3 121380912 121380912 single base substitution G A upstream_gene_variant MELA-AU 3 121381125 121381125 single base substitution C T upstream_gene_variant MELA-AU 3 121381508 121381508 single base substitution G A upstream_gene_variant MELA-AU 3 121382183 121382183 single base substitution G A upstream_gene_variant MELA-AU 3 121382223 121382223 single base substitution A G upstream_gene_variant MELA-AU 3 121382521 121382521 single base substitution G T upstream_gene_variant MELA-AU 3 121382525 121382525 single base substitution C A upstream_gene_variant MELA-AU 3 121382671 121382671 single base substitution G A upstream_gene_variant MELA-AU 3 121382672 121382672 single base substitution G A upstream_gene_variant MELA-AU 3 121383748 121383748 single base substitution C T upstream_gene_variant MELA-AU 3 121383980 121383980 single base substitution G A upstream_gene_variant MELA-AU 3 121384026 121384026 single base substitution G A upstream_gene_variant MELA-AU 3 121384047 121384047 single base substitution T C upstream_gene_variant MELA-AU 3 121384610 121384610 single base substitution G A upstream_gene_variant ORCA-IN 3 121353250 121353250 single base substitution C T 3_prime_UTR_variant ORCA-IN 3 121353250 121353250 single base substitution C T downstream_gene_variant ORCA-IN 3 121353250 121353250 single base substitution C T exon_variant ORCA-IN 3 121353250 121353250 single base substitution C T missense_variant R199H 596G>A ORCA-IN 3 121353250 121353250 single base substitution C T missense_variant R236H 707G>A OV-AU 3 121345823 121345823 single base substitution G C downstream_gene_variant OV-AU 3 121347964 121347964 single base substitution T C downstream_gene_variant OV-AU 3 121352064 121352064 single base substitution A C downstream_gene_variant OV-AU 3 121352064 121352064 single base substitution A C intron_variant OV-AU 3 121361791 121361791 single base substitution T C 3_prime_UTR_variant OV-AU 3 121361791 121361791 single base substitution T C downstream_gene_variant OV-AU 3 121361791 121361791 single base substitution T C exon_variant OV-AU 3 121361791 121361791 single base substitution T C intron_variant OV-AU 3 121361791 121361791 single base substitution T C missense_variant K146R 437A>G OV-AU 3 121363536 121363536 single base substitution G A downstream_gene_variant OV-AU 3 121363536 121363536 single base substitution G A exon_variant OV-AU 3 121363536 121363536 single base substitution G A intron_variant OV-AU 3 121363536 121363536 single base substitution G A upstream_gene_variant OV-AU 3 121366197 121366197 single base substitution C A 3_prime_UTR_variant OV-AU 3 121366197 121366197 single base substitution C A exon_variant OV-AU 3 121366197 121366197 single base substitution C A missense_variant R86L 257G>T OV-AU 3 121366197 121366197 single base substitution C A upstream_gene_variant OV-AU 3 121368562 121368562 single base substitution A C downstream_gene_variant OV-AU 3 121368562 121368562 single base substitution A C intron_variant PACA-AU 3 121348361 121348361 insertion of <=200bp - A downstream_gene_variant PACA-AU 3 121349215 121349215 single base substitution G A downstream_gene_variant PACA-AU 3 121349603 121349603 single base substitution C G downstream_gene_variant PACA-AU 3 121364662 121364662 single base substitution G T intron_variant PACA-AU 3 121364662 121364662 single base substitution G T upstream_gene_variant PACA-AU 3 121365918 121365918 single base substitution T G intron_variant PACA-AU 3 121365918 121365918 single base substitution T G upstream_gene_variant PACA-AU 3 121368410 121368410 single base substitution C T downstream_gene_variant PACA-AU 3 121368410 121368410 single base substitution C T intron_variant PACA-AU 3 121368747 121368747 single base substitution G A downstream_gene_variant PACA-AU 3 121368747 121368747 single base substitution G A intron_variant PACA-AU 3 121374671 121374671 insertion of <=200bp - ATTT downstream_gene_variant PACA-AU 3 121374671 121374671 insertion of <=200bp - ATTT intron_variant PACA-CA 3 121346395 121346395 single base substitution G A downstream_gene_variant PACA-CA 3 121348011 121348011 single base substitution A G downstream_gene_variant PACA-CA 3 121350369 121350369 single base substitution C T 3_prime_UTR_variant PACA-CA 3 121350369 121350369 single base substitution C T downstream_gene_variant PACA-CA 3 121350369 121350369 single base substitution C T exon_variant PACA-CA 3 121351261 121351261 single base substitution C G 3_prime_UTR_variant PACA-CA 3 121351261 121351261 single base substitution C G downstream_gene_variant PACA-CA 3 121351261 121351261 single base substitution C G exon_variant PACA-CA 3 121351261 121351261 single base substitution C G missense_variant R349S 1047G>C PACA-CA 3 121351261 121351261 single base substitution C G missense_variant R386S 1158G>C PACA-CA 3 121351486 121351486 single base substitution G A downstream_gene_variant PACA-CA 3 121351486 121351486 single base substitution G A intron_variant PACA-CA 3 121352020 121352020 single base substitution T A downstream_gene_variant PACA-CA 3 121352020 121352020 single base substitution T A splice_acceptor_variant PACA-CA 3 121352364 121352364 single base substitution C T downstream_gene_variant PACA-CA 3 121352364 121352364 single base substitution C T intron_variant PACA-CA 3 121353235 121353235 single base substitution T G 3_prime_UTR_variant PACA-CA 3 121353235 121353235 single base substitution T G downstream_gene_variant PACA-CA 3 121353235 121353235 single base substitution T G exon_variant PACA-CA 3 121353235 121353235 single base substitution T G missense_variant K204T 611A>C PACA-CA 3 121353235 121353235 single base substitution T G missense_variant K241T 722A>C PACA-CA 3 121355149 121355149 single base substitution C G downstream_gene_variant PACA-CA 3 121355149 121355149 single base substitution C G intron_variant PACA-CA 3 121361323 121361323 insertion of <=200bp - A downstream_gene_variant PACA-CA 3 121361323 121361323 insertion of <=200bp - A intron_variant PACA-CA 3 121365839 121365839 single base substitution T A intron_variant PACA-CA 3 121365839 121365839 single base substitution T A upstream_gene_variant PACA-CA 3 121365986 121365986 single base substitution G A intron_variant PACA-CA 3 121365986 121365986 single base substitution G A upstream_gene_variant PACA-CA 3 121366787 121366787 single base substitution C T intron_variant PACA-CA 3 121366787 121366787 single base substitution C T upstream_gene_variant PACA-CA 3 121366969 121366969 deletion of <=200bp T - intron_variant PACA-CA 3 121366969 121366969 deletion of <=200bp T - upstream_gene_variant PACA-CA 3 121367308 121367308 single base substitution C T intron_variant PACA-CA 3 121367308 121367308 single base substitution C T upstream_gene_variant PACA-CA 3 121367594 121367594 single base substitution G A downstream_gene_variant PACA-CA 3 121367594 121367594 single base substitution G A intron_variant PACA-CA 3 121367594 121367594 single base substitution G A upstream_gene_variant PACA-CA 3 121369819 121369819 single base substitution C A downstream_gene_variant PACA-CA 3 121369819 121369819 single base substitution C A intron_variant PACA-CA 3 121376175 121376175 single base substitution G A downstream_gene_variant PACA-CA 3 121376175 121376175 single base substitution G A exon_variant PACA-CA 3 121376175 121376175 single base substitution G A stop_gained R37* 109C>T PAEN-AU 3 121351083 121351084 deletion of <=200bp AG - downstream_gene_variant PAEN-AU 3 121351083 121351084 deletion of <=200bp AG - intron_variant PAEN-AU 3 121358377 121358377 single base substitution T G downstream_gene_variant PAEN-AU 3 121358377 121358377 single base substitution T G intron_variant PBCA-DE 3 121347998 121347998 single base substitution T C downstream_gene_variant PBCA-DE 3 121349850 121349850 single base substitution C A downstream_gene_variant PBCA-DE 3 121352157 121352157 single base substitution G A downstream_gene_variant PBCA-DE 3 121352157 121352157 single base substitution G A intron_variant PBCA-DE 3 121353893 121353893 single base substitution C T downstream_gene_variant PBCA-DE 3 121353893 121353893 single base substitution C T intron_variant PBCA-DE 3 121355938 121355938 single base substitution A G downstream_gene_variant PBCA-DE 3 121355938 121355938 single base substitution A G intron_variant PBCA-DE 3 121356783 121356783 deletion of <=200bp A - intron_variant PBCA-DE 3 121359936 121359936 single base substitution C T downstream_gene_variant PBCA-DE 3 121359936 121359936 single base substitution C T intron_variant PBCA-DE 3 121365327 121365327 deletion of <=200bp T - intron_variant PBCA-DE 3 121365327 121365327 deletion of <=200bp T - upstream_gene_variant PBCA-DE 3 121365333 121365335 deletion of <=200bp TAT - intron_variant PBCA-DE 3 121365333 121365335 deletion of <=200bp TAT - upstream_gene_variant PBCA-DE 3 121371848 121371848 single base substitution C T downstream_gene_variant PBCA-DE 3 121371848 121371848 single base substitution C T intron_variant PBCA-DE 3 121373900 121373900 single base substitution G T downstream_gene_variant PBCA-DE 3 121373900 121373900 single base substitution G T intron_variant PBCA-DE 3 121378877 121378877 single base substitution G A intron_variant PBCA-DE 3 121380436 121380436 single base substitution C T upstream_gene_variant PRAD-CA 3 121356074 121356074 single base substitution C T 3_prime_UTR_variant PRAD-CA 3 121356074 121356074 single base substitution C T exon_variant PRAD-CA 3 121356074 121356074 single base substitution C T intron_variant PRAD-CA 3 121356074 121356074 single base substitution C T missense_variant G162R 484G>A PRAD-CA 3 121358380 121358380 single base substitution G T downstream_gene_variant PRAD-CA 3 121358380 121358380 single base substitution G T intron_variant PRAD-UK 3 121353532 121353532 single base substitution G A downstream_gene_variant PRAD-UK 3 121353532 121353532 single base substitution G A intron_variant PRAD-UK 3 121353533 121353533 single base substitution C A downstream_gene_variant PRAD-UK 3 121353533 121353533 single base substitution C A intron_variant PRAD-UK 3 121360605 121360605 deletion of <=200bp C - downstream_gene_variant PRAD-UK 3 121360605 121360605 deletion of <=200bp C - intron_variant PRAD-UK 3 121370802 121370802 single base substitution T G downstream_gene_variant PRAD-UK 3 121370802 121370802 single base substitution T G intron_variant PRAD-UK 3 121372820 121372820 insertion of <=200bp - TTCTTT downstream_gene_variant PRAD-UK 3 121372820 121372820 insertion of <=200bp - TTCTTT intron_variant READ-US 3 121351315 121351315 insertion of <=200bp - GGCTCAGGCTCA 3_prime_UTR_variant READ-US 3 121351315 121351315 insertion of <=200bp - GGCTCAGGCTCA downstream_gene_variant READ-US 3 121351315 121351315 insertion of <=200bp - GGCTCAGGCTCA exon_variant READ-US 3 121351315 121351315 insertion of <=200bp - GGCTCAGGCTCA stop_gained P331P*A*A READ-US 3 121351315 121351315 insertion of <=200bp - GGCTCAGGCTCA stop_gained P368P*A*A READ-US 3 121351318 121351318 single base substitution C T 3_prime_UTR_variant READ-US 3 121351318 121351318 single base substitution C T downstream_gene_variant READ-US 3 121351318 121351318 single base substitution C T exon_variant READ-US 3 121351318 121351318 single base substitution C T synonymous_variant E330E 990G>A READ-US 3 121351318 121351318 single base substitution C T synonymous_variant E367E 1101G>A READ-US 3 121351328 121351328 insertion of <=200bp - GCTCAGGCTCAG 3_prime_UTR_variant READ-US 3 121351328 121351328 insertion of <=200bp - GCTCAGGCTCAG downstream_gene_variant READ-US 3 121351328 121351328 insertion of <=200bp - GCTCAGGCTCAG exon_variant READ-US 3 121351328 121351328 insertion of <=200bp - GCTCAGGCTCAG stop_gained P327P*A*A READ-US 3 121351328 121351328 insertion of <=200bp - GCTCAGGCTCAG stop_gained P364P*A*A READ-US 3 121353237 121353237 single base substitution C T 3_prime_UTR_variant READ-US 3 121353237 121353237 single base substitution C T downstream_gene_variant READ-US 3 121353237 121353237 single base substitution C T exon_variant READ-US 3 121353237 121353237 single base substitution C T synonymous_variant A203A 609G>A READ-US 3 121353237 121353237 single base substitution C T synonymous_variant A240A 720G>A READ-US 3 121356047 121356047 single base substitution C A 3_prime_UTR_variant READ-US 3 121356047 121356047 single base substitution C A exon_variant READ-US 3 121356047 121356047 single base substitution C A intron_variant READ-US 3 121356047 121356047 single base substitution C A missense_variant A171S 511G>T READ-US 3 121366252 121366252 single base substitution G T 3_prime_UTR_variant READ-US 3 121366252 121366252 single base substitution G T exon_variant READ-US 3 121366252 121366252 single base substitution G T intron_variant READ-US 3 121366252 121366252 single base substitution G T missense_variant L68I 202C>A READ-US 3 121366252 121366252 single base substitution G T upstream_gene_variant RECA-EU 3 121371485 121371485 single base substitution T C downstream_gene_variant RECA-EU 3 121371485 121371485 single base substitution T C intron_variant RECA-EU 3 121372623 121372623 single base substitution A C downstream_gene_variant RECA-EU 3 121372623 121372623 single base substitution A C exon_variant RECA-EU 3 121372623 121372623 single base substitution A C intron_variant RECA-EU 3 121382660 121382660 single base substitution C G upstream_gene_variant SKCA-BR 3 121345491 121345491 single base substitution C A downstream_gene_variant SKCA-BR 3 121345732 121345732 single base substitution G A downstream_gene_variant SKCA-BR 3 121345835 121345835 single base substitution G A downstream_gene_variant SKCA-BR 3 121345847 121345847 single base substitution C T downstream_gene_variant SKCA-BR 3 121346003 121346003 single base substitution C T downstream_gene_variant SKCA-BR 3 121347016 121347016 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 3 121347044 121347044 single base substitution G T downstream_gene_variant SKCA-BR 3 121348652 121348652 single base substitution G A downstream_gene_variant SKCA-BR 3 121350880 121350880 single base substitution T G downstream_gene_variant SKCA-BR 3 121350880 121350880 single base substitution T G intron_variant SKCA-BR 3 121353254 121353254 single base substitution T C 3_prime_UTR_variant SKCA-BR 3 121353254 121353254 single base substitution T C downstream_gene_variant SKCA-BR 3 121353254 121353254 single base substitution T C exon_variant SKCA-BR 3 121353254 121353254 single base substitution T C missense_variant T198A 592A>G SKCA-BR 3 121353254 121353254 single base substitution T C missense_variant T235A 703A>G SKCA-BR 3 121355249 121355249 single base substitution C G downstream_gene_variant SKCA-BR 3 121355249 121355249 single base substitution C G intron_variant SKCA-BR 3 121356217 121356217 single base substitution G A intron_variant SKCA-BR 3 121356596 121356596 single base substitution A C intron_variant SKCA-BR 3 121356804 121356804 single base substitution C T intron_variant SKCA-BR 3 121357857 121357859 deletion of <=200bp AAC - intron_variant SKCA-BR 3 121357866 121357872 deletion of <=200bp ACACACG - intron_variant SKCA-BR 3 121357874 121357874 single base substitution A G intron_variant SKCA-BR 3 121358244 121358244 single base substitution T A downstream_gene_variant SKCA-BR 3 121358244 121358244 single base substitution T A intron_variant SKCA-BR 3 121358701 121358701 single base substitution A T downstream_gene_variant SKCA-BR 3 121358701 121358701 single base substitution A T intron_variant SKCA-BR 3 121359103 121359103 single base substitution G A downstream_gene_variant SKCA-BR 3 121359103 121359103 single base substitution G A intron_variant SKCA-BR 3 121360380 121360380 single base substitution T A downstream_gene_variant SKCA-BR 3 121360380 121360380 single base substitution T A intron_variant SKCA-BR 3 121361729 121361729 single base substitution C T downstream_gene_variant SKCA-BR 3 121361729 121361729 single base substitution C T intron_variant SKCA-BR 3 121362174 121362174 single base substitution C T downstream_gene_variant SKCA-BR 3 121362174 121362174 single base substitution C T exon_variant SKCA-BR 3 121362174 121362174 single base substitution C T intron_variant SKCA-BR 3 121367322 121367322 single base substitution C G intron_variant SKCA-BR 3 121367322 121367322 single base substitution C G upstream_gene_variant SKCA-BR 3 121368005 121368005 single base substitution A C downstream_gene_variant SKCA-BR 3 121368005 121368005 single base substitution A C intron_variant SKCA-BR 3 121368005 121368005 single base substitution A C upstream_gene_variant SKCA-BR 3 121369762 121369762 single base substitution A G downstream_gene_variant SKCA-BR 3 121369762 121369762 single base substitution A G intron_variant SKCA-BR 3 121371950 121371950 single base substitution G A downstream_gene_variant SKCA-BR 3 121371950 121371950 single base substitution G A intron_variant SKCA-BR 3 121374745 121374745 single base substitution G A downstream_gene_variant SKCA-BR 3 121374745 121374745 single base substitution G A intron_variant SKCA-BR 3 121376516 121376516 single base substitution T A downstream_gene_variant SKCA-BR 3 121376516 121376516 single base substitution T A intron_variant SKCA-BR 3 121382611 121382611 single base substitution A T upstream_gene_variant SKCA-BR 3 121383210 121383210 single base substitution G A upstream_gene_variant SKCM-US 3 121345544 121345544 single base substitution C T downstream_gene_variant SKCM-US 3 121345595 121345595 single base substitution A T downstream_gene_variant SKCM-US 3 121345629 121345629 single base substitution C T downstream_gene_variant SKCM-US 3 121345646 121345646 single base substitution G A downstream_gene_variant SKCM-US 3 121345715 121345715 single base substitution C T downstream_gene_variant SKCM-US 3 121350723 121350723 single base substitution G A downstream_gene_variant SKCM-US 3 121350723 121350723 single base substitution G A exon_variant SKCM-US 3 121350723 121350723 single base substitution G A synonymous_variant F440F 1320C>T SKCM-US 3 121350723 121350723 single base substitution G A synonymous_variant F477F 1431C>T SKCM-US 3 121350806 121350806 single base substitution C T downstream_gene_variant SKCM-US 3 121350806 121350806 single base substitution C T exon_variant SKCM-US 3 121350806 121350806 single base substitution C T missense_variant D413N 1237G>A SKCM-US 3 121350806 121350806 single base substitution C T missense_variant D450N 1348G>A SKCM-US 3 121350811 121350811 single base substitution G A downstream_gene_variant SKCM-US 3 121350811 121350811 single base substitution G A exon_variant SKCM-US 3 121350811 121350811 single base substitution G A missense_variant S411F 1232C>T SKCM-US 3 121350811 121350811 single base substitution G A missense_variant S448F 1343C>T SKCM-US 3 121350818 121350818 single base substitution C T downstream_gene_variant SKCM-US 3 121350818 121350818 single base substitution C T exon_variant SKCM-US 3 121350818 121350818 single base substitution C T missense_variant E409K 1225G>A SKCM-US 3 121350818 121350818 single base substitution C T missense_variant E446K 1336G>A SKCM-US 3 121350826 121350826 single base substitution C T downstream_gene_variant SKCM-US 3 121350826 121350826 single base substitution C T exon_variant SKCM-US 3 121350826 121350826 single base substitution C T missense_variant G406E 1217G>A SKCM-US 3 121350826 121350826 single base substitution C T missense_variant G443E 1328G>A SKCM-US 3 121350950 121350950 single base substitution C T downstream_gene_variant SKCM-US 3 121350950 121350950 single base substitution C T missense_variant G404E 1211G>A SKCM-US 3 121350950 121350950 single base substitution C T missense_variant G441E 1322G>A SKCM-US 3 121350950 121350950 single base substitution C T splice_region_variant SKCM-US 3 121350951 121350951 single base substitution C T downstream_gene_variant SKCM-US 3 121350951 121350951 single base substitution C T exon_variant SKCM-US 3 121350951 121350951 single base substitution C T missense_variant G404R 1210G>A SKCM-US 3 121350951 121350951 single base substitution C T missense_variant G441R 1321G>A SKCM-US 3 121351010 121351010 single base substitution C A downstream_gene_variant SKCM-US 3 121351010 121351010 single base substitution C A exon_variant SKCM-US 3 121351010 121351010 single base substitution C A missense_variant G384V 1151G>T SKCM-US 3 121351010 121351010 single base substitution C A missense_variant G421V 1262G>T SKCM-US 3 121351017 121351017 single base substitution G A downstream_gene_variant SKCM-US 3 121351017 121351017 single base substitution G A exon_variant SKCM-US 3 121351017 121351017 single base substitution G A missense_variant P382S 1144C>T SKCM-US 3 121351017 121351017 single base substitution G A missense_variant P419S 1255C>T SKCM-US 3 121351032 121351032 single base substitution C T downstream_gene_variant SKCM-US 3 121351032 121351032 single base substitution C T splice_acceptor_variant SKCM-US 3 121351304 121351304 single base substitution G A 3_prime_UTR_variant SKCM-US 3 121351304 121351304 single base substitution G A downstream_gene_variant SKCM-US 3 121351304 121351304 single base substitution G A exon_variant SKCM-US 3 121351304 121351304 single base substitution G A missense_variant P335L 1004C>T SKCM-US 3 121351304 121351304 single base substitution G A missense_variant P372L 1115C>T SKCM-US 3 121351959 121351959 single base substitution C T 3_prime_UTR_variant SKCM-US 3 121351959 121351959 single base substitution C T downstream_gene_variant SKCM-US 3 121351959 121351959 single base substitution C T exon_variant SKCM-US 3 121351959 121351959 single base substitution C T synonymous_variant R284R 852G>A SKCM-US 3 121351959 121351959 single base substitution C T synonymous_variant R321R 963G>A SKCM-US 3 121353122 121353122 single base substitution G A 3_prime_UTR_variant SKCM-US 3 121353122 121353122 single base substitution G A downstream_gene_variant SKCM-US 3 121353122 121353122 single base substitution G A exon_variant SKCM-US 3 121353122 121353122 single base substitution G A missense_variant P242S 724C>T SKCM-US 3 121353122 121353122 single base substitution G A missense_variant P279S 835C>T SKCM-US 3 121353207 121353207 single base substitution C T 3_prime_UTR_variant SKCM-US 3 121353207 121353207 single base substitution C T downstream_gene_variant SKCM-US 3 121353207 121353207 single base substitution C T exon_variant SKCM-US 3 121353207 121353207 single base substitution C T synonymous_variant R213R 639G>A SKCM-US 3 121353207 121353207 single base substitution C T synonymous_variant R250R 750G>A SKCM-US 3 121353213 121353213 single base substitution C T 3_prime_UTR_variant SKCM-US 3 121353213 121353213 single base substitution C T downstream_gene_variant SKCM-US 3 121353213 121353213 single base substitution C T exon_variant SKCM-US 3 121353213 121353213 single base substitution C T synonymous_variant E211E 633G>A SKCM-US 3 121353213 121353213 single base substitution C T synonymous_variant E248E 744G>A SKCM-US 3 121353216 121353216 single base substitution C T 3_prime_UTR_variant SKCM-US 3 121353216 121353216 single base substitution C T downstream_gene_variant SKCM-US 3 121353216 121353216 single base substitution C T exon_variant SKCM-US 3 121353216 121353216 single base substitution C T synonymous_variant E210E 630G>A SKCM-US 3 121353216 121353216 single base substitution C T synonymous_variant E247E 741G>A SKCM-US 3 121353237 121353237 single base substitution C T 3_prime_UTR_variant SKCM-US 3 121353237 121353237 single base substitution C T downstream_gene_variant SKCM-US 3 121353237 121353237 single base substitution C T exon_variant SKCM-US 3 121353237 121353237 single base substitution C T synonymous_variant A203A 609G>A SKCM-US 3 121353237 121353237 single base substitution C T synonymous_variant A240A 720G>A SKCM-US 3 121354611 121354611 single base substitution G A downstream_gene_variant SKCM-US 3 121354611 121354611 single base substitution G A exon_variant SKCM-US 3 121354611 121354611 single base substitution G A missense_variant A184V 551C>T SKCM-US 3 121354611 121354611 single base substitution G A missense_variant A221V 662C>T SKCM-US 3 121354627 121354627 single base substitution C T downstream_gene_variant SKCM-US 3 121354627 121354627 single base substitution C T exon_variant SKCM-US 3 121354627 121354627 single base substitution C T missense_variant E179K 535G>A SKCM-US 3 121354627 121354627 single base substitution C T missense_variant E216K 646G>A SKCM-US 3 121354633 121354633 single base substitution C T downstream_gene_variant SKCM-US 3 121354633 121354633 single base substitution C T exon_variant SKCM-US 3 121354633 121354633 single base substitution C T missense_variant E177K 529G>A SKCM-US 3 121354633 121354633 single base substitution C T missense_variant E214K 640G>A SKCM-US 3 121356074 121356074 single base substitution C T 3_prime_UTR_variant SKCM-US 3 121356074 121356074 single base substitution C T exon_variant SKCM-US 3 121356074 121356074 single base substitution C T intron_variant SKCM-US 3 121356074 121356074 single base substitution C T missense_variant G162R 484G>A SKCM-US 3 121361820 121361820 single base substitution G A 3_prime_UTR_variant SKCM-US 3 121361820 121361820 single base substitution G A downstream_gene_variant SKCM-US 3 121361820 121361820 single base substitution G A exon_variant SKCM-US 3 121361820 121361820 single base substitution G A intron_variant SKCM-US 3 121361820 121361820 single base substitution G A synonymous_variant V136V 408C>T SKCM-US 3 121366201 121366201 single base substitution C T 3_prime_UTR_variant SKCM-US 3 121366201 121366201 single base substitution C T exon_variant SKCM-US 3 121366201 121366201 single base substitution C T missense_variant G85S 253G>A SKCM-US 3 121366201 121366201 single base substitution C T upstream_gene_variant SKCM-US 3 121383332 121383332 single base substitution G A upstream_gene_variant STAD-US 3 121345655 121345655 single base substitution T G downstream_gene_variant STAD-US 3 121345701 121345701 single base substitution C T downstream_gene_variant STAD-US 3 121350700 121350700 single base substitution A G downstream_gene_variant STAD-US 3 121350700 121350700 single base substitution A G exon_variant STAD-US 3 121350700 121350700 single base substitution A G missense_variant L448P 1343T>C STAD-US 3 121350700 121350700 single base substitution A G missense_variant L485P 1454T>C STAD-US 3 121350739 121350739 single base substitution C T downstream_gene_variant STAD-US 3 121350739 121350739 single base substitution C T exon_variant STAD-US 3 121350739 121350739 single base substitution C T missense_variant G435D 1304G>A STAD-US 3 121350739 121350739 single base substitution C T missense_variant G472D 1415G>A STAD-US 3 121351279 121351279 single base substitution G A 3_prime_UTR_variant STAD-US 3 121351279 121351279 single base substitution G A downstream_gene_variant STAD-US 3 121351279 121351279 single base substitution G A exon_variant STAD-US 3 121351279 121351279 single base substitution G A synonymous_variant D343D 1029C>T STAD-US 3 121351279 121351279 single base substitution G A synonymous_variant D380D 1140C>T STAD-US 3 121354598 121354598 single base substitution C T downstream_gene_variant STAD-US 3 121354598 121354598 single base substitution C T exon_variant STAD-US 3 121354598 121354598 single base substitution C T synonymous_variant T188T 564G>A STAD-US 3 121354598 121354598 single base substitution C T synonymous_variant T225T 675G>A STAD-US 3 121356016 121356016 single base substitution G A 3_prime_UTR_variant STAD-US 3 121356016 121356016 single base substitution G A exon_variant STAD-US 3 121356016 121356016 single base substitution G A intron_variant STAD-US 3 121356016 121356016 single base substitution G A missense_variant T181M 542C>T STAD-US 3 121363692 121363692 single base substitution G A 3_prime_UTR_variant STAD-US 3 121363692 121363692 single base substitution G A exon_variant STAD-US 3 121363692 121363692 single base substitution G A synonymous_variant Y124Y 372C>T STAD-US 3 121363692 121363692 single base substitution G A upstream_gene_variant STAD-US 3 121383850 121383850 single base substitution G A upstream_gene_variant THCA-SA 3 121346930 121346930 single base substitution A C downstream_gene_variant THCA-SA 3 121347100 121347100 single base substitution C T downstream_gene_variant THCA-SA 3 121350573 121350573 single base substitution A G 3_prime_UTR_variant THCA-SA 3 121350573 121350573 single base substitution A G downstream_gene_variant THCA-SA 3 121350573 121350573 single base substitution A G exon_variant THCA-SA 3 121350583 121350583 single base substitution C T 3_prime_UTR_variant THCA-SA 3 121350583 121350583 single base substitution C T downstream_gene_variant THCA-SA 3 121350583 121350583 single base substitution C T exon_variant THCA-SA 3 121353254 121353254 single base substitution T C 3_prime_UTR_variant THCA-SA 3 121353254 121353254 single base substitution T C downstream_gene_variant THCA-SA 3 121353254 121353254 single base substitution T C exon_variant THCA-SA 3 121353254 121353254 single base substitution T C missense_variant T198A 592A>G THCA-SA 3 121353254 121353254 single base substitution T C missense_variant T235A 703A>G THCA-SA 3 121354583 121354583 single base substitution G A downstream_gene_variant THCA-SA 3 121354583 121354583 single base substitution G A splice_region_variant THCA-SA 3 121382204 121382204 single base substitution C T upstream_gene_variant THCA-SA 3 121383297 121383297 single base substitution G A upstream_gene_variant THCA-US 3 121351231 121351231 single base substitution G C downstream_gene_variant THCA-US 3 121351231 121351231 single base substitution G C exon_variant THCA-US 3 121351231 121351231 single base substitution G C missense_variant D359E 1077C>G THCA-US 3 121351231 121351231 single base substitution G C missense_variant D396E 1188C>G UCEC-US 3 121345715 121345715 single base substitution C A downstream_gene_variant UCEC-US 3 121350735 121350735 single base substitution G A downstream_gene_variant UCEC-US 3 121350735 121350735 single base substitution G A exon_variant UCEC-US 3 121350735 121350735 single base substitution G A synonymous_variant H436H 1308C>T UCEC-US 3 121350735 121350735 single base substitution G A synonymous_variant H473H 1419C>T UCEC-US 3 121350739 121350739 single base substitution C T downstream_gene_variant UCEC-US 3 121350739 121350739 single base substitution C T exon_variant UCEC-US 3 121350739 121350739 single base substitution C T missense_variant G435D 1304G>A UCEC-US 3 121350739 121350739 single base substitution C T missense_variant G472D 1415G>A UCEC-US 3 121350798 121350798 single base substitution G A downstream_gene_variant UCEC-US 3 121350798 121350798 single base substitution G A exon_variant UCEC-US 3 121350798 121350798 single base substitution G A synonymous_variant D415D 1245C>T UCEC-US 3 121350798 121350798 single base substitution G A synonymous_variant D452D 1356C>T UCEC-US 3 121351365 121351365 single base substitution G T 3_prime_UTR_variant UCEC-US 3 121351365 121351365 single base substitution G T downstream_gene_variant UCEC-US 3 121351365 121351365 single base substitution G T exon_variant UCEC-US 3 121351365 121351365 single base substitution G T missense_variant L315I 943C>A UCEC-US 3 121351365 121351365 single base substitution G T missense_variant L352I 1054C>A UCEC-US 3 121353085 121353085 single base substitution G A 3_prime_UTR_variant UCEC-US 3 121353085 121353085 single base substitution G A downstream_gene_variant UCEC-US 3 121353085 121353085 single base substitution G A exon_variant UCEC-US 3 121353085 121353085 single base substitution G A missense_variant P254L 761C>T UCEC-US 3 121353085 121353085 single base substitution G A missense_variant P291L 872C>T UCEC-US 3 121353130 121353130 single base substitution G T 3_prime_UTR_variant UCEC-US 3 121353130 121353130 single base substitution G T downstream_gene_variant UCEC-US 3 121353130 121353130 single base substitution G T exon_variant UCEC-US 3 121353130 121353130 single base substitution G T missense_variant P239H 716C>A UCEC-US 3 121353130 121353130 single base substitution G T missense_variant P276H 827C>A UCEC-US 3 121353189 121353191 deletion of <=200bp CTC - 3_prime_UTR_variant UCEC-US 3 121353189 121353191 deletion of <=200bp CTC - downstream_gene_variant UCEC-US 3 121353189 121353191 deletion of <=200bp CTC - exon_variant UCEC-US 3 121353189 121353191 deletion of <=200bp CTC - inframe_deletion E219 UCEC-US 3 121353189 121353191 deletion of <=200bp CTC - inframe_deletion E256 UCEC-US 3 121354633 121354633 single base substitution C A downstream_gene_variant UCEC-US 3 121354633 121354633 single base substitution C A exon_variant UCEC-US 3 121354633 121354633 single base substitution C A stop_gained E177* 529G>T UCEC-US 3 121354633 121354633 single base substitution C A stop_gained E214* 640G>T UCEC-US 3 121355281 121355281 single base substitution C T downstream_gene_variant UCEC-US 3 121355281 121355281 single base substitution C T splice_region_variant UCEC-US 3 121355326 121355326 single base substitution C A downstream_gene_variant UCEC-US 3 121355326 121355326 single base substitution C A exon_variant UCEC-US 3 121355326 121355326 single base substitution C A missense_variant K155N 465G>T UCEC-US 3 121355326 121355326 single base substitution C A missense_variant K192N 576G>T UCEC-US 3 121356006 121356006 single base substitution G A 3_prime_UTR_variant UCEC-US 3 121356006 121356006 single base substitution G A exon_variant UCEC-US 3 121356006 121356006 single base substitution G A intron_variant UCEC-US 3 121356006 121356006 single base substitution G A synonymous_variant H184H 552C>T UCEC-US 3 121361819 121361819 single base substitution C T 3_prime_UTR_variant UCEC-US 3 121361819 121361819 single base substitution C T downstream_gene_variant UCEC-US 3 121361819 121361819 single base substitution C T exon_variant UCEC-US 3 121361819 121361819 single base substitution C T intron_variant UCEC-US 3 121361819 121361819 single base substitution C T missense_variant G137S 409G>A UCEC-US 3 121363760 121363760 single base substitution C A 3_prime_UTR_variant UCEC-US 3 121363760 121363760 single base substitution C A exon_variant UCEC-US 3 121363760 121363760 single base substitution C A stop_gained E102* 304G>T UCEC-US 3 121363760 121363760 single base substitution C A upstream_gene_variant UCEC-US 3 121376193 121376193 single base substitution T C downstream_gene_variant UCEC-US 3 121376193 121376193 single base substitution T C exon_variant UCEC-US 3 121376193 121376193 single base substitution T C missense_variant I31V 91A>G UCEC-US 3 121383366 121383366 single base substitution A G upstream_gene_variant UCEC-US 3 121383403 121383403 single base substitution C T upstream_gene_variant UCEC-US 3 121383410 121383410 single base substitution G A upstream_gene_variant UCEC-US 3 121383436 121383436 single base substitution C T upstream_gene_variant UCEC-US 3 121383778 121383778 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CA-5796-01 COSM1418167 c.1104C>T p.P368P Substitution - coding silent 3:121632468-121632468 - YUKSI COSM5397900 c.176A>G p.N59S Substitution - Missense 3:121647431-121647431 - TCGA-AP-A051-01 COSM1036963 c.1054C>A p.L352I Substitution - Missense 3:121632518-121632518 - 391 COSM4427949 c.1182G>A p.E394E Substitution - coding silent 3:121632390-121632390 - SC_9056 COSM5553364 c.1125G>A p.E375E Substitution - coding silent 3:121632447-121632447 - TCGA-A7-A0CE-01 COSM445388 c.408C>T p.V136V Substitution - coding silent 3:121642973-121642973 - TCGA-FW-A3R5-06 COSM1253997 c.484G>A p.G162R Substitution - Missense 3:121637227-121637227 - M001 COSM1741050 c.1085_1086ins12 p.A362_E363insSPSL Insertion - In frame 3:121632486-121632487 - U2940 COSM5620934 c.394G>A p.D132N Substitution - Missense 3:121644823-121644823 - TCGA-F5-6814-01 COSM1236045 c.202C>A p.L68I Substitution - Missense 3:121647405-121647405 - LUAD-NYU847 COSM376797 c.1369G>T p.D457Y Substitution - Missense 3:121631938-121631938 - B114 COSM1745440 c.1103_1104ins12 p.E375_N376insPEPE Insertion - In frame 3:121632468-121632469 - TCGA-06-2562-01 COSM1209355 c.1399C>T p.R467W Substitution - Missense 3:121631908-121631908 - SC_9047 COSM5569491 c.676A>G p.T226A Substitution - Missense 3:121635750-121635750 - TCGA-AA-A010-01 COSM281632 c.109C>T p.R37* Substitution - Nonsense 3:121657328-121657328 - TCGA-D3-A5GO-06 COSM3586005 c.1241-1G>A p.? Unknown 3:121632185-121632185 - TCGA-AP-A05N-01 COSM1036964 c.1009-2A>G p.? Unknown 3:121632565-121632565 - ccRCC-84 COSM1662105 c.1084G>C p.A362P Substitution - Missense 3:121632488-121632488 - T3116 COSM4689626 c.113G>T p.W38L Substitution - Missense 3:121657324-121657324 - TCGA-D9-A6EA-06 COSM128138 c.720G>A p.A240A Substitution - coding silent 3:121634390-121634390 - CN-AML-NR-25-Dx COSM1418167 c.1104C>T p.P368P Substitution - coding silent 3:121632468-121632468 - TCGA-FS-A4F8-06 COSM3586011 c.750G>A p.R250R Substitution - coding silent 3:121634360-121634360 - YUMER COSM169045 c.1357G>A p.D453N Substitution - Missense 3:121631950-121631950 - TCGA-FG-5964-01 COSM3974118 c.996G>T p.Q332H Substitution - Missense 3:121633079-121633079 - CSCC-60-T COSM4545283 c.374G>A p.G125E Substitution - Missense 3:121644843-121644843 - 585260 COSM320765 c.1152G>T p.M384I Substitution - Missense 3:121632420-121632420 - TCGA-GN-A269-01 COSM3585999 c.1321G>A p.G441R Substitution - Missense 3:121632104-121632104 - 587376 COSM1209355 c.1399C>T p.R467W Substitution - Missense 3:121631908-121631908 - cSCCP7 COSM139474 c.1040G>A p.R347K Substitution - Missense 3:121632532-121632532 - 40M COSM5585400 c.521G>A p.G174E Substitution - Missense 3:121637190-121637190 - TCGA-B0-4852-01 COSM479284 c.180A>C p.K60N Substitution - Missense 3:121647427-121647427 - TCGA-39-5016-01 COSM727952 c.1004C>T p.P335L Substitution - Missense 3:121633071-121633071 - TCGA-QB-A6FS-06 COSM3585995 c.1328G>A p.G443E Substitution - Missense 3:121631979-121631979 - TCGA-F5-6814-01 COSM3426946 c.511G>T p.A171S Substitution - Missense 3:121637200-121637200 - TCGA-DM-A28M-01 COSM1418167 c.1104C>T p.P368P Substitution - coding silent 3:121632468-121632468 - U266 COSM1236045 c.202C>A p.L68I Substitution - Missense 3:121647405-121647405 - TCGA-AA-3548-01 COSM265654 c.490_492delGAG p.E164delE Deletion - In frame 3:121637219-121637221 - TCGA-BR-7703-01 COSM1036961 c.1415G>A p.G472D Substitution - Missense 3:121631892-121631892 - TCGA-A6-6649-01 COSM1418167 c.1104C>T p.P368P Substitution - coding silent 3:121632468-121632468 - TCGA-EE-A182-06 COSM3914672 c.1431C>T p.F477F Substitution - coding silent 3:121631876-121631876 - CoCM-1 COSM4621146 c.69A>G p.T23T Substitution - coding silent 3:121658279-121658279 - TCGA-AA-3663-01 COSM1418165 c.1300G>A p.V434M Substitution - Missense 3:121632125-121632125 - TCGA-FS-A1ZZ-06 COSM3585997 c.1322G>A p.G441E Substitution - Missense 3:121632103-121632103 - TCGA-GN-A26C-01 COSM3585995 c.1328G>A p.G443E Substitution - Missense 3:121631979-121631979 - TCGA-AA-A00N-01 COSM275431 c.552C>T p.H184H Substitution - coding silent 3:121637159-121637159 - YUGOE COSM1693268 c.713T>C p.L238P Substitution - Missense 3:121634397-121634397 - AOCS-088-3-8 COSM4138356 c.437A>G p.K146R Substitution - Missense 3:121642944-121642944 - TCGA-EE-A2MR-06 COSM3586013 c.744G>A p.E248E Substitution - coding silent 3:121634366-121634366 - TCGA-D5-6930-01 COSM1418168 c.874G>A p.A292T Substitution - Missense 3:121634236-121634236 - KYSE-140 COSM128138 c.720G>A p.A240A Substitution - coding silent 3:121634390-121634390 - 2492729 COSM5727558 c.1025C>T p.P342L Substitution - Missense 3:121632547-121632547 - TCGA-06-2562 COSM1209355 c.1399C>T p.R467W Substitution - Missense 3:121631908-121631908 - TCGA-AP-A059-01 COSM1036969 c.621G>A p.K207K Substitution - coding silent 3:121636434-121636434 - SH-0622 COSM5017782 c.116delG p.G39fs*19 Deletion - Frameshift 3:121657321-121657321 - TCGA-66-2794-01 COSM727950 c.517C>G p.L173V Substitution - Missense 3:121637194-121637194 - HN_62741 COSM123543 c.642A>T p.E214D Substitution - Missense 3:121635784-121635784 - CSCC-4-T COSM3586009 c.963G>A p.R321R Substitution - coding silent 3:121633112-121633112 - PTC-53C COSM4157165 c.1060G>T p.V354L Substitution - Missense 3:121632512-121632512 - ESCC-D8 COSM5046475 c.759G>T p.E253D Substitution - Missense 3:121634351-121634351 - 587376 COSM1209356 c.1354G>A p.D452N Substitution - Missense 3:121631953-121631953 - TCGA-D9-A6EC-06 COSM4401824 c.1343C>T p.S448F Substitution - Missense 3:121631964-121631964 - SC_9081 COSM5569107 c.342G>A p.T114T Substitution - coding silent 3:121644875-121644875 - pfg108T COSM4760735 c.233A>G p.K78R Substitution - Missense 3:121647374-121647374 - YUKLAB COSM1693267 c.1184G>A p.G395E Substitution - Missense 3:121632388-121632388 - TCGA-B5-A11J-01 COSM1036974 c.91A>G p.I31V Substitution - Missense 3:121657346-121657346 - YUAKER COSM1693270 c.314C>T p.A105V Substitution - Missense 3:121644903-121644903 - TCGA-14-0865 COSM202802 c.674C>T p.T225M Substitution - Missense 3:121635752-121635752 - SNUH_G16_S1 COSM4002412 c.1081G>A p.E361K Substitution - Missense 3:121632491-121632491 - 59 COSM327345 c.1086_1087insT p.E363fs*1 Insertion - Frameshift 3:121632485-121632486 - B80-8 COSM1745440 c.1103_1104ins12 p.E375_N376insPEPE Insertion - In frame 3:121632468-121632469 - TCGA-AZ-6601-01 COSM1036961 c.1415G>A p.G472D Substitution - Missense 3:121631892-121631892 - 49M COSM3914672 c.1431C>T p.F477F Substitution - coding silent 3:121631876-121631876 - Pat_41_B COSM5863307 c.695C>T p.S232F Substitution - Missense 3:121634415-121634415 - B23 COSM1745440 c.1103_1104ins12 p.E375_N376insPEPE Insertion - In frame 3:121632468-121632469 - AOCS-088-1-0 COSM4138356 c.437A>G p.K146R Substitution - Missense 3:121642944-121642944 - PT33 COSM5908293 c.611G>A p.R204Q Substitution - Missense 3:121636444-121636444 - TCGA-FS-A1ZZ-06 COSM3586015 c.741G>A p.E247E Substitution - coding silent 3:121634369-121634369 - TCGA-A8-A06X-01 COSM445389 c.115G>T p.G39* Substitution - Nonsense 3:121657322-121657322 - TCGA-AA-3489-01 COSM1418167 c.1104C>T p.P368P Substitution - coding silent 3:121632468-121632468 - TCGA-BR-8591-01 COSM4112677 c.542C>T p.T181M Substitution - Missense 3:121637169-121637169 - PTC-515C COSM4002412 c.1081G>A p.E361K Substitution - Missense 3:121632491-121632491 - TCGA-G4-6588-01 COSM1418166 c.1123G>A p.E375K Substitution - Missense 3:121632449-121632449 - T204 COSM4689624 c.133G>C p.G45R Substitution - Missense 3:121657304-121657304 - TCGA-F5-6861-01 COSM5826195 c.1090_1091ins12 p.E375_N376insPEPE Insertion - In frame 3:121632481-121632482 - CSCC-20-T COSM132699 c.1406G>A p.R469H Substitution - Missense 3:121631901-121631901 - CN-AML-25-T COSM1418167 c.1104C>T p.P368P Substitution - coding silent 3:121632468-121632468 - BD114T COSM5502768 c.784G>A p.A262T Substitution - Missense 3:121634326-121634326 - HN_63027 COSM128138 c.720G>A p.A240A Substitution - coding silent 3:121634390-121634390 - GB10 COSM1743472 c.1409G>A p.C470Y Substitution - Missense 3:121631898-121631898 - CSCC-27-T COSM3120808 c.1000C>T p.L334F Substitution - Missense 3:121633075-121633075 - SWE-37 COSM1179811 c.1162G>A p.E388K Substitution - Missense 3:121632410-121632410 - TCGA-F4-6703-01 COSM1745440 c.1103_1104ins12 p.E375_N376insPEPE Insertion - In frame 3:121632468-121632469 - TCGA-AA-3715-01 COSM269298 c.882G>T p.L294L Substitution - coding silent 3:121634228-121634228 - TCGA-G4-6299-01 COSM1418167 c.1104C>T p.P368P Substitution - coding silent 3:121632468-121632468 - PT21_2 COSM5901247 c.263G>A p.G88E Substitution - Missense 3:121647344-121647344 - TCGA-CG-5734-01 COSM4112670 c.1454T>C p.L485P Substitution - Missense 3:121631853-121631853 - TCGA-41-2573-01 COSM3408163 c.1171G>A p.D391N Substitution - Missense 3:121632401-121632401 - ESCC_BICR_053T COSM5442156 c.171G>A p.L57L Substitution - coding silent 3:121647436-121647436 - TCGA-18-3407-01 COSM727949 c.316G>T p.E106* Substitution - Nonsense 3:121644901-121644901 - STC263 COSM5059237 c.391G>A p.A131T Substitution - Missense 3:121644826-121644826 - TCGA-CA-6717-01 COSM281632 c.109C>T p.R37* Substitution - Nonsense 3:121657328-121657328 - OLID02 COSM132699 c.1406G>A p.R469H Substitution - Missense 3:121631901-121631901 - PTC-7C COSM5446312 c.1086_1087ins12 p.E375_N376insPEPE Insertion - In frame 3:121632485-121632486 - TCGA-D1-A15X-01 COSM1036960 c.1419C>T p.H473H Substitution - coding silent 3:121631888-121631888 - LUAD-CHTN-Z4716A COSM362227 c.381G>A p.E127E Substitution - coding silent 3:121644836-121644836 - TCGA-GF-A3OT-06 COSM3586001 c.1262G>T p.G421V Substitution - Missense 3:121632163-121632163 - TCGA-B5-A0JY-01 COSM1036973 c.304G>T p.E102* Substitution - Nonsense 3:121644913-121644913 - TCGA-AF-6655-01 COSM1745440 c.1103_1104ins12 p.E375_N376insPEPE Insertion - In frame 3:121632468-121632469 - YUKLAB COSM1693269 c.535_536GG>AA p.G179K Substitution - Missense 3:121637175-121637176 - C608 COSM4442937 c.254G>A p.G85D Substitution - Missense 3:121647353-121647353 - 2492710 COSM3585995 c.1328G>A p.G443E Substitution - Missense 3:121631979-121631979 - B11 COSM1745440 c.1103_1104ins12 p.E375_N376insPEPE Insertion - In frame 3:121632468-121632469 - TCGA-GN-A265-06 COSM3586022 c.253G>A p.G85S Substitution - Missense 3:121647354-121647354 - TCGA-AA-3511-01 COSM1418172 c.553G>A p.E185K Substitution - Missense 3:121637158-121637158 - TCGA-BG-A0VZ-01 COSM1036967 c.766_768delGAG p.E256delE Deletion - In frame 3:121634342-121634344 - TCGA-AP-A0LM-01 COSM1036972 c.409G>A p.G137S Substitution - Missense 3:121642972-121642972 - TCGA-FW-A3R5-06 COSM3914676 c.835C>T p.P279S Substitution - Missense 3:121634275-121634275 - NYU872 COSM4771253 c.714G>A p.L238L Substitution - coding silent 3:121634396-121634396 - TCGA-D3-A5GU-06 COSM3586009 c.963G>A p.R321R Substitution - coding silent 3:121633112-121633112 - PCSI_0078_Pa_P_526 COSM3781062 c.904-2A>T p.? Unknown 3:121633173-121633173 - GHE0609 COSM1036967 c.766_768delGAG p.E256delE Deletion - In frame 3:121634342-121634344 - SS6003111 COSM4054948 c.1256C>T p.P419L Substitution - Missense 3:121632169-121632169 - LUAD_E00522 COSM353162 c.23A>G p.H8R Substitution - Missense 3:121658325-121658325 - TCGA-EE-A29L-06 COSM3586003 c.1255C>T p.P419S Substitution - Missense 3:121632170-121632170 - YURED COSM1693266 c.1348G>A p.D450N Substitution - Missense 3:121631959-121631959 - TCGA-EE-A29D-06 COSM3914678 c.640G>A p.E214K Substitution - Missense 3:121635786-121635786 - CSCC-44-T COSM4498317 c.517C>T p.L173L Substitution - coding silent 3:121637194-121637194 - A549 COSM1670495 c.1444G>A p.V482I Substitution - Missense 3:121631863-121631863 - YUHAMA COSM128138 c.720G>A p.A240A Substitution - coding silent 3:121634390-121634390 - TCGA-FW-A3R5-06 COSM3914674 c.1336G>A p.E446K Substitution - Missense 3:121631971-121631971 - PCSI_0476_Pa_P_526 COSM5031334 c.1158G>C p.R386S Substitution - Missense 3:121632414-121632414 - TCGA-AP-A059-01 COSM1036966 c.827C>A p.P276H Substitution - Missense 3:121634283-121634283 - 49M COSM5591232 c.1387G>A p.E463K Substitution - Missense 3:121631920-121631920 - TCGA-AX-A05Z-01 COSM1036968 c.640G>T p.E214* Substitution - Nonsense 3:121635786-121635786 - TCGA-AP-A051-01 COSM1036970 c.576G>T p.K192N Substitution - Missense 3:121636479-121636479 - TCGA-AA-A00K-01 COSM281632 c.109C>T p.R37* Substitution - Nonsense 3:121657328-121657328 - SH-4885 COSM5018994 c.1310A>G p.Y437C Substitution - Missense 3:121632115-121632115 - KYSE-410 COSM3120818 c.637A>C p.N213H Substitution - Missense 3:121635789-121635789 - YUGEMA COSM1693266 c.1348G>A p.D450N Substitution - Missense 3:121631959-121631959 - ESO-708 COSM1253997 c.484G>A p.G162R Substitution - Missense 3:121637227-121637227 - CSCC-49-T COSM4524484 c.1275G>A p.G425G Substitution - coding silent 3:121632150-121632150 - TCGA-14-1829-01 COSM3408165 c.479G>A p.R160Q Substitution - Missense 3:121637232-121637232 - B14-Tumor COSM1752837 c.268G>C p.E90Q Substitution - Missense 3:121647339-121647339 - TCGA-EK-A2RN-01 COSM4823200 c.158A>C p.N53T Substitution - Missense 3:121657279-121657279 - PTC-7C COSM4157163 c.1306G>C p.V436L Substitution - Missense 3:121632119-121632119 - EGC15 COSM5059235 c.1303G>A p.A435T Substitution - Missense 3:121632122-121632122 - 2293776 COSM4607819 c.622-4G>T p.? Unknown 3:121635808-121635808 - TCGA-AZ-6603-01 COSM1745440 c.1103_1104ins12 p.E375_N376insPEPE Insertion - In frame 3:121632468-121632469 - PCSI_0090_Pa_X COSM3380353 c.722A>C p.K241T Substitution - Missense 3:121634388-121634388 - TCGA-B5-A11Y-01 COSM1036965 c.872C>T p.P291L Substitution - Missense 3:121634238-121634238 - TCGA-BG-A0YU-01 COSM1036962 c.1356C>T p.D452D Substitution - coding silent 3:121631951-121631951 - ESO-081 COSM1243302 c.691+2T>C p.? Unknown 3:121635733-121635733 - PT25 COSM4002412 c.1081G>A p.E361K Substitution - Missense 3:121632491-121632491 - TCGA-G4-6586-01 COSM1418170 c.822G>A p.R274R Substitution - coding silent 3:121634288-121634288 - sysucc-274T COSM3408165 c.479G>A p.R160Q Substitution - Missense 3:121637232-121637232 - T3505 COSM4689620 c.1353G>A p.P451P Substitution - coding silent 3:121631954-121631954 - TCGA-EI-6917-01 COSM3426943 c.1101G>A p.E367E Substitution - coding silent 3:121632471-121632471 - LUAD-F00018 COSM365483 c.143G>T p.R48L Substitution - Missense 3:121657294-121657294 - TCGA-CM-5868-01 COSM1745440 c.1103_1104ins12 p.E375_N376insPEPE Insertion - In frame 3:121632468-121632469 - I2L-P14b-Tumor-Organoid COSM5355153 c.1386C>T p.D462D Substitution - coding silent 3:121631921-121631921 - T3080 COSM4689622 c.277C>T p.R93* Substitution - Nonsense 3:121647330-121647330 - B14 COSM1752837 c.268G>C p.E90Q Substitution - Missense 3:121647339-121647339 - TCGA-BT-A20T-01 COSM419904 c.684A>G p.I228M Substitution - Missense 3:121635742-121635742 - TCGA-D5-5541-01 COSM1418167 c.1104C>T p.P368P Substitution - coding silent 3:121632468-121632468 - 2492709 COSM3585995 c.1328G>A p.G443E Substitution - Missense 3:121631979-121631979 - AOCS-119-3-9 COSM4138358 c.257G>T p.R86L Substitution - Missense 3:121647350-121647350 - CSCC-40-T COSM4486081 c.300C>T p.G100G Substitution - coding silent 3:121644917-121644917 - TCGA-D9-A3Z4-01 COSM3586019 c.646G>A p.E216K Substitution - Missense 3:121635780-121635780 - TCGA-EI-6917-01 COSM128138 c.720G>A p.A240A Substitution - coding silent 3:121634390-121634390 - TCGA-FY-A3ON-01 COSM3372976 c.1188C>G p.D396E Substitution - Missense 3:121632384-121632384 - CHLA-258 COSM4583831 c.1118A>C p.E373A Substitution - Missense 3:121632454-121632454 - TCGA-CD-A4MG-01 COSM4112679 c.372C>T p.Y124Y Substitution - coding silent 3:121644845-121644845 - TCGA-GF-A6C9-06 COSM3914672 c.1431C>T p.F477F Substitution - coding silent 3:121631876-121631876 - BD236T COSM5518464 c.802C>T p.R268* Substitution - Nonsense 3:121634308-121634308 - TCGA-DC-5869-01 COSM1745440 c.1103_1104ins12 p.E375_N376insPEPE Insertion - In frame 3:121632468-121632469 - TCGA-CM-6680-01 COSM1745440 c.1103_1104ins12 p.E375_N376insPEPE Insertion - In frame 3:121632468-121632469 - 296_T COSM3944744 c.607G>T p.D203Y Substitution - Missense 3:121636448-121636448 - PTC-28C COSM5446312 c.1086_1087ins12 p.E375_N376insPEPE Insertion - In frame 3:121632485-121632486 - HCC012T COSM3586009 c.963G>A p.R321R Substitution - coding silent 3:121633112-121633112 - TCGA-GN-A26C-01 COSM3586017 c.662C>T p.A221V Substitution - Missense 3:121635764-121635764 - TCGA-D1-A103-01 COSM275431 c.552C>T p.H184H Substitution - coding silent 3:121637159-121637159 - CPCG0251-F1 COSM1253997 c.484G>A p.G162R Substitution - Missense 3:121637227-121637227 - 3 COSM5731975 c.611G>T p.R204L Substitution - Missense 3:121636444-121636444 - TCGA-AP-A0LM-01 COSM1036961 c.1415G>A p.G472D Substitution - Missense 3:121631892-121631892 - 8T COSM3714345 c.707G>A p.R236H Substitution - Missense 3:121634403-121634403 - I2L-P14b-Tumor-Biopsy COSM5355153 c.1386C>T p.D462D Substitution - coding silent 3:121631921-121631921 - YUQUEST COSM5397898 c.577G>A p.G193S Substitution - Missense 3:121636478-121636478 - TCGA-D8-A27V-01 COSM3845956 c.304G>C p.E102Q Substitution - Missense 3:121644913-121644913 - 2521259 COSM5889935 c.251G>A p.G84E Substitution - Missense 3:121647356-121647356 - TCGA-BR-8680-01 COSM4112675 c.675G>A p.T225T Substitution - coding silent 3:121635751-121635751 - OSCC-GB_00080111 COSM3714345 c.707G>A p.R236H Substitution - Missense 3:121634403-121634403 - TCGA-AZ-4315-01 COSM1418169 c.824G>A p.S275N Substitution - Missense 3:121634286-121634286 - 2492708 COSM3585995 c.1328G>A p.G443E Substitution - Missense 3:121631979-121631979 - TCGA-BR-8680-01 COSM4112673 c.1140C>T p.D380D Substitution - coding silent 3:121632432-121632432 - TCGA-EB-A5UL-06 COSM3586007 c.1115C>T p.P372L Substitution - Missense 3:121632457-121632457 - TCGA-GN-A26C-01 COSM445388 c.408C>T p.V136V Substitution - coding silent 3:121642973-121642973 - BK0003 COSM4185459 c.953G>T p.R318I Substitution - Missense 3:121633122-121633122 - TCGA-22-1016-01 COSM727954 c.1323A>T p.G441G Substitution - coding silent 3:121632102-121632102 - TCGA-AD-6889-01 COSM1418167 c.1104C>T p.P368P Substitution - coding silent 3:121632468-121632468 - TCGA-BS-A0UM-01 COSM1036971 c.483C>T p.Y161Y Substitution - coding silent 3:121637228-121637228 - TCGA-EE-A29L-06 COSM1693266 c.1348G>A p.D450N Substitution - Missense 3:121631959-121631959 - TCGA-CM-5861-01 COSM1418171 c.566-1G>A p.? Unknown 3:121636490-121636490 - PCSI_0290_Pa_P_526 COSM281632 c.109C>T p.R37* Substitution - Nonsense 3:121657328-121657328 - U2940 COSM5620932 c.1082A>G p.E361G Substitution - Missense 3:121632490-121632490 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.14577;Hs.14601 3q13 601306 2473975|CGAP|BC016758|C/T|non-coding||1629|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.V6G c.17T>G 3 121377178 AML A G Missense p.L485P c.1454T>C 3 121350700 STAD - CA 3-UTRInsertion . c.1458+390_1458+391insTG 3 121350305 STAD C A Missense p.M384I c.1152G>T 3 121351267 SCLC C A Missense p.Q332H c.996G>T 3 121351926 LGG C A Nonsense p.E106* c.316G>T 3 121363748 LUSC C A Nonsense p.G39* c.115G>T 3 121376169 BRCA C A Synonymous p.G307G c.921G>T 3 121352001 HNSC CC GT Missense p.D115H c.342_343delinsAC 3 121363721 CM C G Missense p.E108Q c.322G>C 3 121363742 HNSC C G Missense p.E127Q c.379G>C 3 121363685 LUAD C G Missense p.G179R c.535G>C 3 121356023 LUAD C T 3-UTRSNV . c.1458+31G>A 3 121350665 CM CTC - InFrameDeletion p.E164delE c.490_492delGAG 3 121356066 COREAD CTC - InFrameDeletion p.E256delE c.766_768delGAG 3 121353189 UCEC C T IntronicSNV . c.158+99G>A 3 121376027 CM C T IntronicSNV . c.159-30G>A 3 121366325 CM C T IntronicSNV . c.399+138G>A 3 121363527 CM C T IntronicSNV . c.399+73G>A 3 121363592 CM C T IntronicSNV . c.400-67G>A 3 121361895 CM C T IntronicSNV . c.903+373G>A 3 121352681 PIA C T Missense p.A191T c.571G>A 3 121355331 LUAD C T Missense p.D391N c.1171G>A 3 121351248 GBM C T Missense p.D438N c.1312G>A 3 121350960 CM C T Missense p.D450N c.1348G>A 3 121350806 CM C T Missense p.E355K c.1063G>A 3 121351356 CM C T Missense p.E398K c.1192G>A 3 121351227 LUAD C T Missense p.G162R c.484G>A 3 121356074 ESCA C T Missense p.G441E c.1322G>A 3 121350950 CM C T Missense p.G441R c.1321G>A 3 121350951 CM C T Missense p.G443E c.1328G>A 3 121350826 CM C T Missense p.G85S c.253G>A 3 121366201 CM C T Missense p.R160Q c.479G>A 3 121356079 GBM C T Missense p.V89I c.265G>A 3 121366189 CM C T Synonymous p.A240A c.720G>A 3 121353237 CM C T Synonymous p.A240A c.720G>A 3 121353237 HNSC C T Synonymous p.E247E c.741G>A 3 121353216 CM C T Synonymous p.G430G c.1290G>A 3 121350982 CM G A 3-UTRSNV . c.1458+67C>T 3 121350629 ESCA G A Missense p.A221V c.662C>T 3 121354611 CM G A Missense p.P291L c.872C>T 3 121353085 UCEC G A Missense p.P419S c.1255C>T 3 121351017 CM G A Missense p.R467W c.1399C>T 3 121350755 GBM G A Nonsense p.R37* c.109C>T 3 121376175 COREAD G A Synonymous p.D452D c.1356C>T 3 121350798 UCEC G A Synonymous p.F477F c.1431C>T 3 121350723 CM G A Synonymous p.L401L c.1203C>T 3 121351216 CM G A Synonymous p.V136V c.408C>T 3 121361820 BRCA G A Synonymous p.V136V c.408C>T 3 121361820 CM G C IntronicSNV . c.84+124C>G 3 121376987 CM G C Missense p.D396E c.1188C>G 3 121351231 THCA G C Missense p.L173V c.517C>G 3 121356041 LUSC G T Synonymous p.R93R c.277C>A 3 121366177 STAD T A IntronicSNV . c.158+4156A>T 3 121371970 CLL T A Missense p.E214D c.642A>T 3 121354631 HNSC T A Missense p.R386W c.1156A>T 3 121351263 LUAD T A Synonymous p.G441G c.1323A>T 3 121350949 LUSC T C Missense p.I228M c.684A>G 3 121354589 BLCA T C Missense p.I31V c.91A>G 3 121376193 UCEC T G Missense p.K60N c.180A>C 3 121366274 RCCC T G Missense p.Y397S c.1190A>C 3 121351229 LUAD