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 18 67993002 67993002 + Silent SNP C C T TCGA-OR-A5JL-01A-11D-A29I-10 TCGA-OR-A5JL-10A-01D-A29L-10 g.chr18:67993002C>T c.1098C>T c.(1096-1098)ccC>ccT p.P366P BLCA 18 67992188 67992188 + Missense_Mutation SNP C C T TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr18:67992188C>T c.284C>T c.(283-285)tCt>tTt p.S95F BLCA 18 67992252 67992252 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr18:67992252G>A c.348G>A c.(346-348)gtG>gtA p.V116V BLCA 18 67992477 67992477 + Silent SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 g.chr18:67992477G>A c.573G>A c.(571-573)ctG>ctA p.L191L BLCA 18 67992515 67992515 + Missense_Mutation SNP A A T TCGA-K4-A5RH-01A-11D-A30E-08 TCGA-K4-A5RH-10A-01D-A30H-08 g.chr18:67992515A>T c.611A>T c.(610-612)cAc>cTc p.H204L BLCA 18 67992725 67992725 + Missense_Mutation SNP T T G TCGA-FD-A6TH-01A-11D-A32B-08 TCGA-FD-A6TH-10A-01D-A329-08 g.chr18:67992725T>G c.821T>G c.(820-822)gTt>gGt p.V274G BLCA 18 67992983 67992983 + Missense_Mutation SNP C C T TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 g.chr18:67992983C>T c.1079C>T c.(1078-1080)tCa>tTa p.S360L BLCA 18 67993149 67993149 + Silent SNP T T C TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 g.chr18:67993149T>C c.1245T>C c.(1243-1245)cgT>cgC p.R415R BLCA 18 67993328 67993328 + Missense_Mutation SNP C C T TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr18:67993328C>T c.1424C>T c.(1423-1425)tCt>tTt p.S475F BRCA 18 67992019 67992019 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr18:67992019G>T c.115G>T c.(115-117)Gat>Tat p.D39Y BRCA 18 67992128 67992128 + Missense_Mutation SNP G G T TCGA-BH-A18F-01A-11D-A12B-09 TCGA-BH-A18F-11A-22D-A12B-09 g.chr18:67992128G>T c.224G>T c.(223-225)gGt>gTt p.G75V BRCA 18 67992682 67992682 + Missense_Mutation SNP C C T TCGA-BH-A0BT-01A-11D-A12Q-09 TCGA-BH-A0BT-11A-21D-A12Q-09 g.chr18:67992682C>T c.778C>T c.(778-780)Cgc>Tgc p.R260C BRCA 18 67992730 67992730 + Missense_Mutation SNP G G A TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr18:67992730G>A c.826G>A c.(826-828)Gcc>Acc p.A276T BRCA 18 67992965 67992965 + Missense_Mutation SNP T T A TCGA-BH-A18Q-01A-12D-A12B-09 TCGA-BH-A18Q-11A-34D-A12B-09 g.chr18:67992965T>A c.1061T>A c.(1060-1062)gTt>gAt p.V354D BRCA 18 67993118 67993118 + Missense_Mutation SNP C C T TCGA-A7-A2KD-01A-31D-A21Q-09 TCGA-A7-A2KD-10A-01D-A21Q-09 g.chr18:67993118C>T c.1214C>T c.(1213-1215)tCt>tTt p.S405F BRCA 18 67993262 67993262 + Missense_Mutation SNP C C T TCGA-A7-A2KD-01A-31D-A21Q-09 TCGA-A7-A2KD-10A-01D-A21Q-09 g.chr18:67993262C>T c.1358C>T c.(1357-1359)tCc>tTc p.S453F CESC 18 67992052 67992052 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 g.chr18:67992052G>T c.148G>T c.(148-150)Gat>Tat p.D50Y CESC 18 67992741 67992741 + Silent SNP C C T TCGA-C5-A1BL-01A-11D-A13W-08 TCGA-C5-A1BL-10A-01D-A13W-08 g.chr18:67992741C>T c.837C>T c.(835-837)atC>atT p.I279I CESC 18 67993286 67993286 + Nonsense_Mutation SNP C C A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 g.chr18:67993286C>A c.1382C>A c.(1381-1383)tCa>tAa p.S461* CESC 18 67993397 67993397 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 g.chr18:67993397G>A c.1493G>A c.(1492-1494)cGc>cAc p.R498H COAD 18 67992415 67992415 + Missense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr18:67992415G>A c.511G>A c.(511-513)Gtc>Atc p.V171I COAD 18 67992659 67992659 + Missense_Mutation SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr18:67992659C>T c.755C>T c.(754-756)gCg>gTg p.A252V COAD 18 67992685 67992685 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr18:67992685G>A c.781G>A c.(781-783)Gct>Act p.A261T COAD 18 67992804 67992804 + Silent SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr18:67992804G>A c.900G>A c.(898-900)ccG>ccA p.P300P COAD 18 67992926 67992926 + Missense_Mutation SNP G G A TCGA-CM-4747-01A-01D-1408-10 TCGA-CM-4747-10A-01D-1408-10 g.chr18:67992926G>A c.1022G>A c.(1021-1023)cGc>cAc p.R341H COAD 18 67993208 67993208 + Missense_Mutation SNP A A G TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr18:67993208A>G c.1304A>G c.(1303-1305)cAc>cGc p.H435R COADREAD 18 67992415 67992415 + Missense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr18:67992415G>A c.511G>A c.(511-513)Gtc>Atc p.V171I COADREAD 18 67992659 67992659 + Missense_Mutation SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr18:67992659C>T c.755C>T c.(754-756)gCg>gTg p.A252V COADREAD 18 67992660 67992660 + Silent SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr18:67992660G>A c.756G>A c.(754-756)gcG>gcA p.A252A COADREAD 18 67992685 67992685 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr18:67992685G>A c.781G>A c.(781-783)Gct>Act p.A261T COADREAD 18 67992744 67992744 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:67992744C>T c.840C>T c.(838-840)ttC>ttT p.F280F COADREAD 18 67992804 67992804 + Silent SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr18:67992804G>A c.900G>A c.(898-900)ccG>ccA p.P300P COADREAD 18 67992926 67992926 + Missense_Mutation SNP G G A TCGA-CM-4747-01A-01D-1408-10 TCGA-CM-4747-10A-01D-1408-10 g.chr18:67992926G>A c.1022G>A c.(1021-1023)cGc>cAc p.R341H COADREAD 18 67993208 67993208 + Missense_Mutation SNP A A G TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr18:67993208A>G c.1304A>G c.(1303-1305)cAc>cGc p.H435R ESCA 18 67992306 67992306 + Silent SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 g.chr18:67992306C>A c.402C>A c.(400-402)ccC>ccA p.P134P ESCA 18 67992415 67992415 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 g.chr18:67992415G>A c.511G>A c.(511-513)Gtc>Atc p.V171I ESCA 18 67992659 67992659 + Missense_Mutation SNP C C A TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 g.chr18:67992659C>A c.755C>A c.(754-756)gCg>gAg p.A252E ESCA 18 67992971 67992971 + Missense_Mutation SNP G G C TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr18:67992971G>C c.1067G>C c.(1066-1068)aGa>aCa p.R356T ESCA 18 67993381 67993381 + Silent SNP C C A TCGA-LN-A4A1-01A-21D-A27G-09 TCGA-LN-A4A1-10A-01D-A27G-09 g.chr18:67993381C>A c.1477C>A c.(1477-1479)Cgg>Agg p.R493R GBM 18 67992070 67992070 + Missense_Mutation SNP A A G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 g.chr18:67992070A>G c.166A>G c.(166-168)Atc>Gtc p.I56V GBM 18 67992496 67992496 + Missense_Mutation SNP A A G TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 g.chr18:67992496A>G c.592A>G c.(592-594)Aat>Gat p.N198D GBMLGG 18 67992070 67992070 + Missense_Mutation SNP A A G TCGA-06-2558-01A-01D-1494-08 TCGA-06-2558-10A-01D-1494-08 g.chr18:67992070A>G c.166A>G c.(166-168)Atc>Gtc p.I56V GBMLGG 18 67992496 67992496 + Missense_Mutation SNP A A G TCGA-26-1442-01A-01D-1696-08 TCGA-26-1442-10A-01D-1696-08 g.chr18:67992496A>G c.592A>G c.(592-594)Aat>Gat p.N198D GBMLGG 18 67992683 67992683 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:67992683G>A c.779G>A c.(778-780)cGc>cAc p.R260H GBMLGG 18 67992736 67992736 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:67992736G>T c.832G>T c.(832-834)Gag>Tag p.E278* GBMLGG 18 67993430 67993430 + Missense_Mutation SNP G G A TCGA-HT-A5R9-01A-11D-A289-08 TCGA-HT-A5R9-10A-01D-A289-08 g.chr18:67993430G>A c.1526G>A c.(1525-1527)cGt>cAt p.R509H HNSC 18 67991962 67991962 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 g.chr18:67991962G>C c.58G>C c.(58-60)Gaa>Caa p.E20Q HNSC 18 67992019 67992019 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 g.chr18:67992019G>C c.115G>C c.(115-117)Gat>Cat p.D39H HNSC 18 67992094 67992094 + Frame_Shift_Del DEL G G - TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 g.chr18:67992094delG c.190delG c.(190-192)ggafs p.G64fs HNSC 18 67992095 67992096 + Frame_Shift_Ins INS - - A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr18:67992095_67992096insA c.191_192insA c.(190-195)ggaaaafs p.GK64fs HNSC 18 67992151 67992151 + Missense_Mutation SNP G G T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 g.chr18:67992151G>T c.247G>T c.(247-249)Gca>Tca p.A83S HNSC 18 67992202 67992202 + Missense_Mutation SNP G G A TCGA-CV-A6K0-01B-21D-A31L-08 TCGA-CV-A6K0-10A-01D-A31J-08 g.chr18:67992202G>A c.298G>A c.(298-300)Gac>Aac p.D100N HNSC 18 67992445 67992445 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 g.chr18:67992445G>C c.541G>C c.(541-543)Gag>Cag p.E181Q HNSC 18 67992652 67992652 + Missense_Mutation SNP G G A TCGA-HD-7831-01A-11D-2129-08 TCGA-HD-7831-10A-01D-2129-08 g.chr18:67992652G>A c.748G>A c.(748-750)Gtc>Atc p.V250I HNSC 18 67993103 67993103 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr18:67993103A>G c.1199A>G c.(1198-1200)aAc>aGc p.N400S HNSC 18 67993105 67993105 + Missense_Mutation SNP G G A TCGA-CN-5369-01A-01D-1434-08 TCGA-CN-5369-10A-01D-1434-08 g.chr18:67993105G>A c.1201G>A c.(1201-1203)Gtg>Atg p.V401M HNSC 18 67993164 67993164 + Silent SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 g.chr18:67993164G>A c.1260G>A c.(1258-1260)ttG>ttA p.L420L HNSC 18 67993288 67993288 + Missense_Mutation SNP A A G TCGA-CN-6994-01A-11D-1912-08 TCGA-CN-6994-10A-01D-1912-08 g.chr18:67993288A>G c.1384A>G c.(1384-1386)Atc>Gtc p.I462V KIPAN 18 67992496 67992496 + Frame_Shift_Del DEL A A - TCGA-DZ-6132-01A-11D-1961-08 TCGA-DZ-6132-11A-01D-1961-08 g.chr18:67992496delA c.592delA c.(592-594)aatfs p.N198fs KIPAN 18 67992862 67992862 + Missense_Mutation SNP A A T TCGA-4A-A93W-01A-11D-A36X-10 TCGA-4A-A93W-10A-01D-A370-10 g.chr18:67992862A>T c.958A>T c.(958-960)Aat>Tat p.N320Y KIPAN 18 67992983 67992983 + Missense_Mutation SNP C C T TCGA-BP-5176-01A-01D-1429-08 TCGA-BP-5176-11A-01D-1429-08 g.chr18:67992983C>T c.1079C>T c.(1078-1080)tCa>tTa p.S360L KIPAN 18 67992989 67992989 + Missense_Mutation SNP A A T TCGA-IA-A83S-01A-11D-A34Z-10 TCGA-IA-A83S-11A-11D-A34Z-10 g.chr18:67992989A>T c.1085A>T c.(1084-1086)cAa>cTa p.Q362L KIRC 18 67992983 67992983 + Missense_Mutation SNP C C T TCGA-BP-5176-01A-01D-1429-08 TCGA-BP-5176-11A-01D-1429-08 g.chr18:67992983C>T c.1079C>T c.(1078-1080)tCa>tTa p.S360L KIRP 18 67992496 67992496 + Frame_Shift_Del DEL A A - TCGA-DZ-6132-01A-11D-1961-08 TCGA-DZ-6132-11A-01D-1961-08 g.chr18:67992496delA c.592delA c.(592-594)aatfs p.N198fs KIRP 18 67992862 67992862 + Missense_Mutation SNP A A T TCGA-4A-A93W-01A-11D-A36X-10 TCGA-4A-A93W-10A-01D-A370-10 g.chr18:67992862A>T c.958A>T c.(958-960)Aat>Tat p.N320Y KIRP 18 67992989 67992989 + Missense_Mutation SNP A A T TCGA-IA-A83S-01A-11D-A34Z-10 TCGA-IA-A83S-11A-11D-A34Z-10 g.chr18:67992989A>T c.1085A>T c.(1084-1086)cAa>cTa p.Q362L LGG 18 67992683 67992683 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:67992683G>A c.779G>A c.(778-780)cGc>cAc p.R260H LGG 18 67992736 67992736 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:67992736G>T c.832G>T c.(832-834)Gag>Tag p.E278* LGG 18 67993430 67993430 + Missense_Mutation SNP G G A TCGA-HT-A5R9-01A-11D-A289-08 TCGA-HT-A5R9-10A-01D-A289-08 g.chr18:67993430G>A c.1526G>A c.(1525-1527)cGt>cAt p.R509H LIHC 18 67992584 67992585 + Frame_Shift_Ins INS - - C TCGA-DD-A1EJ-01A-11D-A152-10 TCGA-DD-A1EJ-10A-01D-A152-10 g.chr18:67992584_67992585insC c.680_681insC c.(679-684)ttagatfs p.LD227fs LIHC 18 67992585 67992606 + Frame_Shift_Del DEL AGATGAGGGGATGTATCCTTTG AGATGAGGGGATGTATCCTTTG - TCGA-DD-A1EJ-01A-11D-A152-10 TCGA-DD-A1EJ-10A-01D-A152-10 g.chr18:67992585_67992606delAGATGAGGGGATGTATCCTTTG c.681_702delAGATGAGGGGATGTATCCTTTG c.(679-702)ttagatgaggggatgtatcctttgfs p.LDEGMYPL227fs LIHC 18 67992586 67992606 + In_Frame_Del DEL GATGAGGGGATGTATCCTTTG GATGAGGGGATGTATCCTTTG - TCGA-DD-A1EJ-01A-11D-A152-10 TCGA-DD-A1EJ-10A-01D-A152-10 g.chr18:67992586_67992606delGATGAGGGGATGTATCCTTTG c.682_702delGATGAGGGGATGTATCCTTTG c.(682-702)gatgaggggatgtatcctttgdel p.DEGMYPL228del LIHC 18 67992605 67992606 + Frame_Shift_Ins INS - - C TCGA-DD-A1EJ-01A-11D-A152-10 TCGA-DD-A1EJ-10A-01D-A152-10 g.chr18:67992605_67992606insC c.701_702insC c.(700-705)ttggaafs p.LE234fs LIHC 18 67992724 67992724 + Missense_Mutation SNP G G C TCGA-BC-A10R-01A-11D-A12Z-10 TCGA-BC-A10R-11A-11D-A12Z-10 g.chr18:67992724G>C c.820G>C c.(820-822)Gtt>Ctt p.V274L LUAD 18 67992072 67992072 + Silent SNP C C A TCGA-17-Z018-01A-01W-0746-08 TCGA-17-Z018-11A-01W-0746-08 g.chr18:67992072C>A c.168C>A c.(166-168)atC>atA p.I56I LUAD 18 67992312 67992312 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr18:67992312G>T c.408G>T c.(406-408)ccG>ccT p.P136P LUAD 18 67992499 67992499 + Nonsense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 g.chr18:67992499G>T c.595G>T c.(595-597)Gga>Tga p.G199* LUAD 18 67992718 67992718 + Missense_Mutation SNP G G T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 g.chr18:67992718G>T c.814G>T c.(814-816)Gac>Tac p.D272Y LUAD 18 67992759 67992759 + Silent SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 g.chr18:67992759G>C c.855G>C c.(853-855)gtG>gtC p.V285V LUAD 18 67992886 67992886 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 g.chr18:67992886G>T c.982G>T c.(982-984)Gga>Tga p.G328* LUAD 18 67992908 67992908 + Missense_Mutation SNP A A T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 g.chr18:67992908A>T c.1004A>T c.(1003-1005)cAc>cTc p.H335L LUAD 18 67993064 67993064 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 g.chr18:67993064G>A c.1160G>A c.(1159-1161)gGa>gAa p.G387E LUSC 18 67992174 67992174 + Missense_Mutation SNP G G T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 g.chr18:67992174G>T c.270G>T c.(268-270)aaG>aaT p.K90N LUSC 18 67992780 67992780 + Silent SNP C C A TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 g.chr18:67992780C>A c.876C>A c.(874-876)acC>acA p.T292T LUSC 18 67993357 67993357 + Missense_Mutation SNP G G A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 g.chr18:67993357G>A c.1453G>A c.(1453-1455)Gtc>Atc p.V485I PAAD 18 67992860 67992860 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:67992860A>C c.956A>C c.(955-957)aAt>aCt p.N319T PRAD 18 67992626 67992626 + Missense_Mutation SNP G G T TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 g.chr18:67992626G>T c.722G>T c.(721-723)tGt>tTt p.C241F READ 18 67992660 67992660 + Silent SNP G G A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr18:67992660G>A c.756G>A c.(754-756)gcG>gcA p.A252A READ 18 67992744 67992744 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:67992744C>T c.840C>T c.(838-840)ttC>ttT p.F280F SARC 18 67992094 67992094 + Missense_Mutation SNP G G A TCGA-DX-A1KZ-01A-11D-A24N-09 TCGA-DX-A1KZ-10A-01D-A24N-09 g.chr18:67992094G>A c.190G>A c.(190-192)Gga>Aga p.G64R SKCM 18 67992221 67992221 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr18:67992221C>T c.317C>T c.(316-318)tCc>tTc p.S106F SKCM 18 67992275 67992275 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr18:67992275C>T c.371C>T c.(370-372)tCc>tTc p.S124F SKCM 18 67992406 67992406 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 g.chr18:67992406C>T c.502C>T c.(502-504)Ctg>Ttg p.L168L SKCM 18 67992581 67992581 + Missense_Mutation SNP C C T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr18:67992581C>T c.677C>T c.(676-678)cCt>cTt p.P226L SKCM 18 67993118 67993118 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr18:67993118C>T c.1214C>T c.(1213-1215)tCt>tTt p.S405F SKCM 18 67993350 67993350 + Silent SNP T T C TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr18:67993350T>C c.1446T>C c.(1444-1446)acT>acC p.T482T

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 18 67992252 67992252 single base substitution G A synonymous_variant V116V 348G>A BLCA-US 18 67992477 67992477 single base substitution G A synonymous_variant L191L 573G>A BLCA-US 18 67992983 67992983 single base substitution C T downstream_gene_variant BLCA-US 18 67992983 67992983 single base substitution C T missense_variant S360L 1079C>T BRCA-EU 18 67951306 67951306 insertion of <=200bp - A upstream_gene_variant BRCA-EU 18 67951603 67951603 single base substitution G A upstream_gene_variant BRCA-EU 18 67952456 67952456 single base substitution A C upstream_gene_variant BRCA-EU 18 67952829 67952829 single base substitution C T upstream_gene_variant BRCA-EU 18 67952845 67952845 single base substitution C A upstream_gene_variant BRCA-EU 18 67953193 67953193 single base substitution C T upstream_gene_variant BRCA-EU 18 67953221 67953221 single base substitution C G upstream_gene_variant BRCA-EU 18 67954042 67954042 single base substitution C T upstream_gene_variant BRCA-EU 18 67955343 67955343 single base substitution G A upstream_gene_variant BRCA-EU 18 67955362 67955362 deletion of <=200bp T - upstream_gene_variant BRCA-EU 18 67956178 67956178 single base substitution G T 5_prime_UTR_variant BRCA-EU 18 67958209 67958209 single base substitution A T intron_variant BRCA-EU 18 67958214 67958214 single base substitution C G intron_variant BRCA-EU 18 67959094 67959094 single base substitution A G intron_variant BRCA-EU 18 67959094 67959094 single base substitution A G upstream_gene_variant BRCA-EU 18 67960426 67960426 single base substitution C G intron_variant BRCA-EU 18 67960426 67960426 single base substitution C G upstream_gene_variant BRCA-EU 18 67963779 67963779 single base substitution G A intron_variant BRCA-EU 18 67963779 67963779 single base substitution G A upstream_gene_variant BRCA-EU 18 67965449 67965449 deletion of <=200bp A - intron_variant BRCA-EU 18 67967869 67967869 single base substitution A T intron_variant BRCA-EU 18 67968000 67968000 single base substitution G A intron_variant BRCA-EU 18 67969974 67969974 single base substitution C T intron_variant BRCA-EU 18 67970018 67970018 single base substitution T A intron_variant BRCA-EU 18 67970986 67970986 single base substitution T C intron_variant BRCA-EU 18 67972435 67972435 single base substitution C T intron_variant BRCA-EU 18 67973813 67973813 deletion of <=200bp T - intron_variant BRCA-EU 18 67974343 67974343 insertion of <=200bp - A intron_variant BRCA-EU 18 67974485 67974485 single base substitution G A intron_variant BRCA-EU 18 67975597 67975597 single base substitution G A intron_variant BRCA-EU 18 67975907 67975907 single base substitution C T intron_variant BRCA-EU 18 67976260 67976260 single base substitution G C intron_variant BRCA-EU 18 67976469 67976469 deletion of <=200bp T - intron_variant BRCA-EU 18 67976469 67976469 deletion of <=200bp T - upstream_gene_variant BRCA-EU 18 67977172 67977172 single base substitution T C intron_variant BRCA-EU 18 67977172 67977172 single base substitution T C upstream_gene_variant BRCA-EU 18 67979061 67979061 single base substitution C G intron_variant BRCA-EU 18 67979061 67979061 single base substitution C G upstream_gene_variant BRCA-EU 18 67979068 67979068 deletion of <=200bp T - intron_variant BRCA-EU 18 67979068 67979068 deletion of <=200bp T - upstream_gene_variant BRCA-EU 18 67979655 67979655 single base substitution T C intron_variant BRCA-EU 18 67979655 67979655 single base substitution T C upstream_gene_variant BRCA-EU 18 67980088 67980088 single base substitution C T intron_variant BRCA-EU 18 67980088 67980088 single base substitution C T upstream_gene_variant BRCA-EU 18 67980862 67980862 single base substitution G A intron_variant BRCA-EU 18 67980862 67980862 single base substitution G A upstream_gene_variant BRCA-EU 18 67981393 67981393 single base substitution G A intron_variant BRCA-EU 18 67981393 67981393 single base substitution G A upstream_gene_variant BRCA-EU 18 67981572 67981572 deletion of <=200bp T - intron_variant BRCA-EU 18 67981902 67981902 single base substitution G T intron_variant BRCA-EU 18 67982025 67982025 single base substitution A C intron_variant BRCA-EU 18 67982906 67982906 single base substitution C G intron_variant BRCA-EU 18 67983020 67983020 single base substitution A C intron_variant BRCA-EU 18 67983328 67983328 single base substitution C T intron_variant BRCA-EU 18 67987206 67987206 single base substitution A G intron_variant BRCA-EU 18 67988817 67988817 single base substitution C T intron_variant BRCA-EU 18 67988836 67988836 single base substitution G A intron_variant BRCA-EU 18 67989348 67989348 single base substitution T C intron_variant BRCA-EU 18 67990285 67990285 single base substitution G C intron_variant BRCA-EU 18 67992096 67992096 insertion of <=200bp - A frameshift_variant G64G? BRCA-EU 18 67993171 67993171 single base substitution C T downstream_gene_variant BRCA-EU 18 67993171 67993171 single base substitution C T missense_variant R423C 1267C>T BRCA-EU 18 67994105 67994105 single base substitution T C 3_prime_UTR_variant BRCA-EU 18 67994105 67994105 single base substitution T C downstream_gene_variant BRCA-EU 18 67994526 67994526 single base substitution G T 3_prime_UTR_variant BRCA-EU 18 67994526 67994526 single base substitution G T downstream_gene_variant BRCA-EU 18 67994698 67994698 single base substitution G C 3_prime_UTR_variant BRCA-EU 18 67994698 67994698 single base substitution G C downstream_gene_variant BRCA-EU 18 67994836 67994836 single base substitution G T 3_prime_UTR_variant BRCA-EU 18 67994836 67994836 single base substitution G T downstream_gene_variant BRCA-EU 18 67995043 67995043 single base substitution G A 3_prime_UTR_variant BRCA-EU 18 67995043 67995043 single base substitution G A downstream_gene_variant BRCA-EU 18 67995689 67995689 single base substitution C T 3_prime_UTR_variant BRCA-EU 18 67995689 67995689 single base substitution C T downstream_gene_variant BRCA-EU 18 67997152 67997152 single base substitution G A 3_prime_UTR_variant BRCA-EU 18 67997152 67997152 single base substitution G A downstream_gene_variant BRCA-EU 18 67999152 67999152 single base substitution C G downstream_gene_variant BRCA-EU 18 67999345 67999345 single base substitution A G downstream_gene_variant BRCA-EU 18 67999651 67999651 single base substitution G C downstream_gene_variant BRCA-EU 18 67999901 67999901 single base substitution A G downstream_gene_variant BRCA-EU 18 67999973 67999973 single base substitution C G downstream_gene_variant BRCA-EU 18 68000867 68000867 single base substitution A G downstream_gene_variant BRCA-EU 18 68001031 68001031 deletion of <=200bp A - downstream_gene_variant BRCA-EU 18 68001599 68001599 single base substitution A G downstream_gene_variant BRCA-FR 18 67960426 67960426 single base substitution C G intron_variant BRCA-FR 18 67960426 67960426 single base substitution C G upstream_gene_variant BRCA-FR 18 67960628 67960628 single base substitution G T intron_variant BRCA-FR 18 67960628 67960628 single base substitution G T upstream_gene_variant BRCA-FR 18 67966511 67966511 single base substitution C T intron_variant BRCA-FR 18 67974485 67974485 single base substitution G A intron_variant BRCA-FR 18 67975345 67975345 single base substitution G T intron_variant BRCA-FR 18 67976222 67976222 single base substitution A T intron_variant BRCA-FR 18 67980862 67980862 single base substitution G A intron_variant BRCA-FR 18 67980862 67980862 single base substitution G A upstream_gene_variant BRCA-FR 18 67982906 67982906 single base substitution C G intron_variant BRCA-FR 18 67990896 67990896 single base substitution T A intron_variant BRCA-FR 18 67999345 67999345 single base substitution A G downstream_gene_variant BRCA-UK 18 67992820 67992820 single base substitution G T downstream_gene_variant BRCA-UK 18 67992820 67992820 single base substitution G T missense_variant D306Y 916G>T BRCA-UK 18 67993482 67993482 single base substitution G A downstream_gene_variant BRCA-UK 18 67993482 67993482 single base substitution G A missense_variant M526I 1578G>A BRCA-US 18 67992019 67992019 single base substitution G T missense_variant D39Y 115G>T BRCA-US 18 67992128 67992128 single base substitution G T missense_variant G75V 224G>T BRCA-US 18 67992682 67992682 single base substitution C T downstream_gene_variant BRCA-US 18 67992682 67992682 single base substitution C T missense_variant R260C 778C>T BRCA-US 18 67992730 67992730 single base substitution G A downstream_gene_variant BRCA-US 18 67992730 67992730 single base substitution G A missense_variant A276T 826G>A BRCA-US 18 67992965 67992965 single base substitution T A downstream_gene_variant BRCA-US 18 67992965 67992965 single base substitution T A missense_variant V354D 1061T>A BRCA-US 18 67993118 67993118 single base substitution C T downstream_gene_variant BRCA-US 18 67993118 67993118 single base substitution C T missense_variant S405F 1214C>T BRCA-US 18 67993262 67993262 single base substitution C T downstream_gene_variant BRCA-US 18 67993262 67993262 single base substitution C T missense_variant S453F 1358C>T CESC-US 18 67992052 67992052 single base substitution G T missense_variant D50Y 148G>T CESC-US 18 67992741 67992741 single base substitution C T downstream_gene_variant CESC-US 18 67992741 67992741 single base substitution C T synonymous_variant I279I 837C>T CESC-US 18 67993286 67993286 single base substitution C A downstream_gene_variant CESC-US 18 67993286 67993286 single base substitution C A stop_gained S461* 1382C>A CESC-US 18 67993397 67993397 single base substitution G A downstream_gene_variant CESC-US 18 67993397 67993397 single base substitution G A missense_variant R498H 1493G>A CLLE-ES 18 67951762 67951762 single base substitution C G upstream_gene_variant CLLE-ES 18 67956863 67956863 single base substitution G A intron_variant COAD-US 18 67992202 67992202 single base substitution G A missense_variant D100N 298G>A COAD-US 18 67992685 67992685 single base substitution G A downstream_gene_variant COAD-US 18 67992685 67992685 single base substitution G A missense_variant A261T 781G>A COAD-US 18 67992804 67992804 single base substitution G A downstream_gene_variant COAD-US 18 67992804 67992804 single base substitution G A synonymous_variant P300P 900G>A COAD-US 18 67992926 67992926 single base substitution G A downstream_gene_variant COAD-US 18 67992926 67992926 single base substitution G A missense_variant R341H 1022G>A COAD-US 18 67993208 67993208 single base substitution A G downstream_gene_variant COAD-US 18 67993208 67993208 single base substitution A G missense_variant H435R 1304A>G COCA-CN 18 67992135 67992135 single base substitution A T synonymous_variant L77L 231A>T COCA-CN 18 67993291 67993291 single base substitution A G downstream_gene_variant COCA-CN 18 67993291 67993291 single base substitution A G missense_variant R463G 1387A>G EOPC-DE 18 67963363 67963363 single base substitution G A intron_variant EOPC-DE 18 67963363 67963363 single base substitution G A upstream_gene_variant EOPC-DE 18 67967195 67967195 single base substitution T A intron_variant EOPC-DE 18 67996706 67996706 single base substitution C T 3_prime_UTR_variant EOPC-DE 18 67996706 67996706 single base substitution C T downstream_gene_variant EOPC-DE 18 67999842 67999842 single base substitution G A downstream_gene_variant ESAD-UK 18 67956804 67956804 single base substitution G A intron_variant ESAD-UK 18 67957201 67957201 single base substitution T G intron_variant ESAD-UK 18 67957599 67957599 single base substitution T G intron_variant ESAD-UK 18 67958331 67958331 deletion of <=200bp T - intron_variant ESAD-UK 18 67960284 67960284 deletion of <=200bp C - intron_variant ESAD-UK 18 67960284 67960284 deletion of <=200bp C - upstream_gene_variant ESAD-UK 18 67964770 67964770 single base substitution C T intron_variant ESAD-UK 18 67965249 67965249 single base substitution G A intron_variant ESAD-UK 18 67965547 67965547 single base substitution T A intron_variant ESAD-UK 18 67972238 67972238 single base substitution C T intron_variant ESAD-UK 18 67972493 67972493 single base substitution T C intron_variant ESAD-UK 18 67973173 67973173 single base substitution G A intron_variant ESAD-UK 18 67973253 67973253 single base substitution C T intron_variant ESAD-UK 18 67974009 67974009 single base substitution A C intron_variant ESAD-UK 18 67975237 67975237 single base substitution A T intron_variant ESAD-UK 18 67975293 67975293 single base substitution G A intron_variant ESAD-UK 18 67975454 67975454 single base substitution A G intron_variant ESAD-UK 18 67975588 67975588 single base substitution G A intron_variant ESAD-UK 18 67978984 67978984 single base substitution C A intron_variant ESAD-UK 18 67978984 67978984 single base substitution C A upstream_gene_variant ESAD-UK 18 67979307 67979307 single base substitution A T intron_variant ESAD-UK 18 67979307 67979307 single base substitution A T upstream_gene_variant ESAD-UK 18 67979423 67979423 single base substitution T G intron_variant ESAD-UK 18 67979423 67979423 single base substitution T G upstream_gene_variant ESAD-UK 18 67981111 67981111 single base substitution G C intron_variant ESAD-UK 18 67981111 67981111 single base substitution G C upstream_gene_variant ESAD-UK 18 67981580 67981580 single base substitution C T intron_variant ESAD-UK 18 67982096 67982096 insertion of <=200bp - TG intron_variant ESAD-UK 18 67987618 67987618 single base substitution C G intron_variant ESAD-UK 18 67988019 67988019 deletion of <=200bp T - intron_variant ESAD-UK 18 67990092 67990092 single base substitution A T intron_variant ESAD-UK 18 67992250 67992250 single base substitution G A missense_variant V116M 346G>A ESAD-UK 18 67993416 67993416 single base substitution T C downstream_gene_variant ESAD-UK 18 67993416 67993416 single base substitution T C synonymous_variant C504C 1512T>C ESAD-UK 18 67993685 67993685 single base substitution G A 3_prime_UTR_variant ESAD-UK 18 67993685 67993685 single base substitution G A downstream_gene_variant ESAD-UK 18 67994345 67994345 single base substitution G A 3_prime_UTR_variant ESAD-UK 18 67994345 67994345 single base substitution G A downstream_gene_variant ESAD-UK 18 68000652 68000652 single base substitution G A downstream_gene_variant ESCA-CN 18 67992157 67992157 single base substitution C T stop_gained Q85* 253C>T ESCA-CN 18 67992354 67992354 single base substitution G A synonymous_variant K150K 450G>A ESCA-CN 18 67995725 67995725 single base substitution T C 3_prime_UTR_variant ESCA-CN 18 67995725 67995725 single base substitution T C downstream_gene_variant GBM-US 18 67992070 67992070 single base substitution A G missense_variant I56V 166A>G GBM-US 18 67992496 67992496 single base substitution A G missense_variant N198D 592A>G KIRC-US 18 67992983 67992983 single base substitution C T downstream_gene_variant KIRC-US 18 67992983 67992983 single base substitution C T missense_variant S360L 1079C>T KIRP-US 18 67992496 67992496 deletion of <=200bp A - frameshift_variant N198 LGG-US 18 67993430 67993430 single base substitution G A downstream_gene_variant LGG-US 18 67993430 67993430 single base substitution G A missense_variant R509H 1526G>A LICA-CN 18 67992173 67992173 single base substitution A T missense_variant K90M 269A>T LICA-CN 18 67993417 67993417 single base substitution C T downstream_gene_variant LICA-CN 18 67993417 67993417 single base substitution C T missense_variant R505C 1513C>T LIHC-US 18 67992584 67992584 insertion of <=200bp - C frameshift_variant L227S? LIHC-US 18 67992586 67992606 deletion of <=200bp GATGAGGGGATGTATCCTTTG - frameshift_variant ?228 LIHC-US 18 67992586 67992606 deletion of <=200bp GATGAGGGGATGTATCCTTTG - inframe_deletion DEGMYPL228 LIHC-US 18 67992658 67992658 single base substitution G A downstream_gene_variant LIHC-US 18 67992658 67992658 single base substitution G A missense_variant A252T 754G>A LIHC-US 18 67992706 67992706 single base substitution C T downstream_gene_variant LIHC-US 18 67992706 67992706 single base substitution C T stop_gained Q268* 802C>T LIHC-US 18 67992724 67992724 single base substitution G C downstream_gene_variant LIHC-US 18 67992724 67992724 single base substitution G C missense_variant V274L 820G>C LINC-JP 18 67957620 67957620 single base substitution A G intron_variant LINC-JP 18 67960112 67960112 single base substitution A T intron_variant LINC-JP 18 67960112 67960112 single base substitution A T upstream_gene_variant LINC-JP 18 67964138 67964138 single base substitution C T intron_variant LINC-JP 18 67969113 67969113 single base substitution A C intron_variant LINC-JP 18 67972130 67972130 single base substitution A T intron_variant LINC-JP 18 67990353 67990353 single base substitution G T intron_variant LINC-JP 18 67992730 67992730 single base substitution G A downstream_gene_variant LINC-JP 18 67992730 67992730 single base substitution G A missense_variant A276T 826G>A LINC-JP 18 67992880 67992880 single base substitution T G downstream_gene_variant LINC-JP 18 67992880 67992880 single base substitution T G missense_variant F326V 976T>G LINC-JP 18 67995232 67995232 single base substitution G T 3_prime_UTR_variant LINC-JP 18 67995232 67995232 single base substitution G T downstream_gene_variant LINC-JP 18 67998483 67998483 insertion of <=200bp - TTT downstream_gene_variant LIRI-JP 18 67957819 67957819 single base substitution G T intron_variant LIRI-JP 18 67958507 67958507 single base substitution T C intron_variant LIRI-JP 18 67960860 67960860 single base substitution A G intron_variant LIRI-JP 18 67960860 67960860 single base substitution A G upstream_gene_variant LIRI-JP 18 67962073 67962073 single base substitution T A intron_variant LIRI-JP 18 67962073 67962073 single base substitution T A upstream_gene_variant LIRI-JP 18 67964157 67964157 single base substitution G T intron_variant LIRI-JP 18 67965876 67965876 single base substitution A G intron_variant LIRI-JP 18 67965887 67965887 single base substitution T G intron_variant LIRI-JP 18 67966812 67966812 single base substitution A T intron_variant LIRI-JP 18 67967708 67967708 single base substitution A G intron_variant LIRI-JP 18 67968243 67968243 single base substitution C A intron_variant LIRI-JP 18 67970749 67970749 single base substitution G T intron_variant LIRI-JP 18 67971121 67971121 single base substitution T C intron_variant LIRI-JP 18 67971453 67971453 single base substitution C A intron_variant LIRI-JP 18 67973650 67973650 single base substitution C T intron_variant LIRI-JP 18 67974957 67974957 single base substitution T A intron_variant LIRI-JP 18 67974958 67974958 single base substitution A T intron_variant LIRI-JP 18 67976543 67976543 single base substitution C T intron_variant LIRI-JP 18 67976543 67976543 single base substitution C T upstream_gene_variant LIRI-JP 18 67978056 67978056 single base substitution A C intron_variant LIRI-JP 18 67978056 67978056 single base substitution A C upstream_gene_variant LIRI-JP 18 67978213 67978213 single base substitution G T intron_variant LIRI-JP 18 67978213 67978213 single base substitution G T upstream_gene_variant LIRI-JP 18 67978590 67978590 single base substitution A G intron_variant LIRI-JP 18 67978590 67978590 single base substitution A G upstream_gene_variant LIRI-JP 18 67981150 67981150 single base substitution T C intron_variant LIRI-JP 18 67981150 67981150 single base substitution T C upstream_gene_variant LIRI-JP 18 67981591 67981591 single base substitution A T intron_variant LIRI-JP 18 67982096 67982096 insertion of <=200bp - TA intron_variant LIRI-JP 18 67983897 67983897 single base substitution G T intron_variant LIRI-JP 18 67986094 67986094 single base substitution A C intron_variant LIRI-JP 18 67986240 67986240 single base substitution A G intron_variant LIRI-JP 18 67986720 67986720 single base substitution A G intron_variant LIRI-JP 18 67986821 67986821 single base substitution T A intron_variant LIRI-JP 18 67987006 67987006 single base substitution A G intron_variant LIRI-JP 18 67987296 67987296 single base substitution C G intron_variant LIRI-JP 18 67987849 67987849 single base substitution A G intron_variant LIRI-JP 18 67989611 67989615 deletion of <=200bp ATTGA - intron_variant LIRI-JP 18 67989627 67989627 single base substitution T G intron_variant LIRI-JP 18 67989856 67989856 single base substitution T A intron_variant LIRI-JP 18 67990972 67990972 single base substitution A G intron_variant LIRI-JP 18 67991225 67991225 single base substitution T G intron_variant LIRI-JP 18 67992422 67992429 deletion of <=200bp AGGATTTC - frameshift_variant KDF173 LIRI-JP 18 67992986 67992986 single base substitution T C downstream_gene_variant LIRI-JP 18 67992986 67992986 single base substitution T C missense_variant V361A 1082T>C LIRI-JP 18 67993362 67993362 single base substitution A G downstream_gene_variant LIRI-JP 18 67993362 67993362 single base substitution A G synonymous_variant R486R 1458A>G LIRI-JP 18 67995345 67995345 single base substitution A G 3_prime_UTR_variant LIRI-JP 18 67995345 67995345 single base substitution A G downstream_gene_variant LIRI-JP 18 67996163 67996163 single base substitution A C 3_prime_UTR_variant LIRI-JP 18 67996163 67996163 single base substitution A C downstream_gene_variant LIRI-JP 18 67996843 67996843 deletion of <=200bp G - 3_prime_UTR_variant LIRI-JP 18 67996843 67996843 deletion of <=200bp G - downstream_gene_variant LIRI-JP 18 67996848 67996848 single base substitution C G 3_prime_UTR_variant LIRI-JP 18 67996848 67996848 single base substitution C G downstream_gene_variant LIRI-JP 18 67997591 67997591 single base substitution T C downstream_gene_variant LIRI-JP 18 67997637 67997637 single base substitution G A downstream_gene_variant LIRI-JP 18 68002391 68002391 single base substitution G T downstream_gene_variant LUSC-KR 18 67952122 67952122 single base substitution C G upstream_gene_variant LUSC-KR 18 67953364 67953364 single base substitution C A upstream_gene_variant LUSC-KR 18 67953756 67953756 single base substitution C G upstream_gene_variant LUSC-KR 18 67954772 67954772 single base substitution G C upstream_gene_variant LUSC-KR 18 67954832 67954832 single base substitution G A upstream_gene_variant LUSC-KR 18 67964990 67964990 single base substitution C G intron_variant LUSC-KR 18 67970175 67970175 single base substitution A T intron_variant LUSC-KR 18 67971574 67971574 single base substitution A G intron_variant LUSC-KR 18 67976108 67976108 single base substitution C T intron_variant LUSC-KR 18 67978078 67978078 single base substitution G A intron_variant LUSC-KR 18 67978078 67978078 single base substitution G A upstream_gene_variant LUSC-KR 18 67981859 67981859 single base substitution C G intron_variant LUSC-KR 18 67982731 67982731 single base substitution G C intron_variant LUSC-KR 18 67983002 67983002 single base substitution C T intron_variant LUSC-KR 18 67983223 67983223 single base substitution C T intron_variant LUSC-KR 18 67984681 67984681 single base substitution C G intron_variant LUSC-KR 18 67986748 67986748 single base substitution G A intron_variant LUSC-KR 18 67987253 67987253 single base substitution G T intron_variant LUSC-KR 18 67992279 67992279 single base substitution G A synonymous_variant T125T 375G>A LUSC-KR 18 67994856 67994856 single base substitution A T 3_prime_UTR_variant LUSC-KR 18 67994856 67994856 single base substitution A T downstream_gene_variant LUSC-KR 18 67995695 67995695 single base substitution G A 3_prime_UTR_variant LUSC-KR 18 67995695 67995695 single base substitution G A downstream_gene_variant LUSC-KR 18 67996258 67996258 single base substitution A G 3_prime_UTR_variant LUSC-KR 18 67996258 67996258 single base substitution A G downstream_gene_variant LUSC-US 18 67992174 67992174 single base substitution G T missense_variant K90N 270G>T LUSC-US 18 67992780 67992780 single base substitution C A downstream_gene_variant LUSC-US 18 67992780 67992780 single base substitution C A synonymous_variant T292T 876C>A LUSC-US 18 67993357 67993357 single base substitution G A downstream_gene_variant LUSC-US 18 67993357 67993357 single base substitution G A missense_variant V485I 1453G>A MALY-DE 18 67953209 67953209 single base substitution A G upstream_gene_variant MALY-DE 18 67959495 67959495 single base substitution C T intron_variant MALY-DE 18 67959495 67959495 single base substitution C T upstream_gene_variant MALY-DE 18 67960310 67960310 single base substitution C T intron_variant MALY-DE 18 67960310 67960310 single base substitution C T upstream_gene_variant MALY-DE 18 67961676 67961676 single base substitution T C intron_variant MALY-DE 18 67961676 67961676 single base substitution T C upstream_gene_variant MALY-DE 18 67964199 67964199 single base substitution G A intron_variant MALY-DE 18 67978785 67978785 single base substitution T C intron_variant MALY-DE 18 67978785 67978785 single base substitution T C upstream_gene_variant MALY-DE 18 67983116 67983116 single base substitution T G intron_variant MALY-DE 18 67984621 67984621 single base substitution T A intron_variant MALY-DE 18 67992667 67992667 single base substitution C T downstream_gene_variant MALY-DE 18 67992667 67992667 single base substitution C T missense_variant P255S 763C>T MALY-DE 18 68000550 68000550 single base substitution C A downstream_gene_variant MALY-DE 18 68001014 68001014 single base substitution A G downstream_gene_variant MELA-AU 18 67951603 67951603 single base substitution G A upstream_gene_variant MELA-AU 18 67952134 67952134 single base substitution G A upstream_gene_variant MELA-AU 18 67952390 67952390 single base substitution G A upstream_gene_variant MELA-AU 18 67952872 67952872 single base substitution G A upstream_gene_variant MELA-AU 18 67952908 67952908 single base substitution G A upstream_gene_variant MELA-AU 18 67953480 67953480 single base substitution C T upstream_gene_variant MELA-AU 18 67955802 67955802 single base substitution G A upstream_gene_variant MELA-AU 18 67956470 67956471 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 67956900 67956900 single base substitution G A intron_variant MELA-AU 18 67956903 67956903 single base substitution C G intron_variant MELA-AU 18 67957301 67957304 deletion of <=200bp AAAT - intron_variant MELA-AU 18 67957460 67957461 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 67957536 67957536 single base substitution A T intron_variant MELA-AU 18 67958022 67958022 deletion of <=200bp T - intron_variant MELA-AU 18 67958139 67958139 single base substitution C T intron_variant MELA-AU 18 67958152 67958153 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 67958173 67958208 deletion of <=200bp CCCCGCAGGGAGTGGCAGGGAAGGAATTTGAGAGCC - intron_variant MELA-AU 18 67958855 67958855 single base substitution T A intron_variant MELA-AU 18 67958855 67958855 single base substitution T A upstream_gene_variant MELA-AU 18 67960648 67960648 insertion of <=200bp - T intron_variant MELA-AU 18 67960648 67960648 insertion of <=200bp - T upstream_gene_variant MELA-AU 18 67960695 67960695 single base substitution G A intron_variant MELA-AU 18 67960695 67960695 single base substitution G A upstream_gene_variant MELA-AU 18 67960865 67960865 single base substitution G T intron_variant MELA-AU 18 67960865 67960865 single base substitution G T upstream_gene_variant MELA-AU 18 67961340 67961340 single base substitution A G intron_variant MELA-AU 18 67961340 67961340 single base substitution A G upstream_gene_variant MELA-AU 18 67961486 67961486 single base substitution C T intron_variant MELA-AU 18 67961486 67961486 single base substitution C T upstream_gene_variant MELA-AU 18 67961566 67961566 single base substitution C T intron_variant MELA-AU 18 67961566 67961566 single base substitution C T upstream_gene_variant MELA-AU 18 67961640 67961640 single base substitution T C intron_variant MELA-AU 18 67961640 67961640 single base substitution T C upstream_gene_variant MELA-AU 18 67962923 67962923 single base substitution C T intron_variant MELA-AU 18 67962923 67962923 single base substitution C T upstream_gene_variant MELA-AU 18 67963191 67963191 single base substitution A T intron_variant MELA-AU 18 67963191 67963191 single base substitution A T upstream_gene_variant MELA-AU 18 67964250 67964250 single base substitution G A intron_variant MELA-AU 18 67964253 67964253 single base substitution G A intron_variant MELA-AU 18 67965907 67965908 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 67966359 67966359 single base substitution A G intron_variant MELA-AU 18 67966383 67966383 single base substitution C T intron_variant MELA-AU 18 67967379 67967379 single base substitution C T intron_variant MELA-AU 18 67967458 67967458 single base substitution G A intron_variant MELA-AU 18 67967517 67967517 single base substitution C G intron_variant MELA-AU 18 67968220 67968220 single base substitution C T intron_variant MELA-AU 18 67968517 67968517 single base substitution A G intron_variant MELA-AU 18 67969968 67969968 single base substitution C T intron_variant MELA-AU 18 67970578 67970578 single base substitution T C intron_variant MELA-AU 18 67970741 67970741 single base substitution A G intron_variant MELA-AU 18 67971478 67971478 single base substitution A G intron_variant MELA-AU 18 67972299 67972299 single base substitution C A intron_variant MELA-AU 18 67972398 67972398 single base substitution C T intron_variant MELA-AU 18 67972571 67972571 single base substitution C T intron_variant MELA-AU 18 67972746 67972746 single base substitution C T intron_variant MELA-AU 18 67974287 67974287 single base substitution C T intron_variant MELA-AU 18 67975684 67975684 single base substitution C T intron_variant MELA-AU 18 67976590 67976590 single base substitution C T intron_variant MELA-AU 18 67976590 67976590 single base substitution C T upstream_gene_variant MELA-AU 18 67976752 67976752 single base substitution A C intron_variant MELA-AU 18 67976752 67976752 single base substitution A C upstream_gene_variant MELA-AU 18 67977074 67977074 single base substitution C T intron_variant MELA-AU 18 67977074 67977074 single base substitution C T upstream_gene_variant MELA-AU 18 67977444 67977444 single base substitution C T intron_variant MELA-AU 18 67977444 67977444 single base substitution C T upstream_gene_variant MELA-AU 18 67977472 67977472 single base substitution T C intron_variant MELA-AU 18 67977472 67977472 single base substitution T C upstream_gene_variant MELA-AU 18 67977554 67977554 single base substitution C T intron_variant MELA-AU 18 67977554 67977554 single base substitution C T upstream_gene_variant MELA-AU 18 67977605 67977605 single base substitution C T intron_variant MELA-AU 18 67977605 67977605 single base substitution C T upstream_gene_variant MELA-AU 18 67977800 67977800 single base substitution T G intron_variant MELA-AU 18 67977800 67977800 single base substitution T G upstream_gene_variant MELA-AU 18 67978253 67978253 single base substitution A G intron_variant MELA-AU 18 67978253 67978253 single base substitution A G upstream_gene_variant MELA-AU 18 67978663 67978663 single base substitution C T intron_variant MELA-AU 18 67978663 67978663 single base substitution C T upstream_gene_variant MELA-AU 18 67978868 67978868 single base substitution A C intron_variant MELA-AU 18 67978868 67978868 single base substitution A C upstream_gene_variant MELA-AU 18 67979725 67979725 single base substitution T A intron_variant MELA-AU 18 67979725 67979725 single base substitution T A upstream_gene_variant MELA-AU 18 67980102 67980102 single base substitution C T intron_variant MELA-AU 18 67980102 67980102 single base substitution C T upstream_gene_variant MELA-AU 18 67981582 67981582 single base substitution C T intron_variant MELA-AU 18 67981950 67981950 single base substitution A C intron_variant MELA-AU 18 67983115 67983115 single base substitution G T intron_variant MELA-AU 18 67983938 67983938 single base substitution C G intron_variant MELA-AU 18 67983975 67983975 single base substitution C T intron_variant MELA-AU 18 67984389 67984389 single base substitution C T intron_variant MELA-AU 18 67984790 67984790 single base substitution T C intron_variant MELA-AU 18 67985054 67985054 single base substitution C T intron_variant MELA-AU 18 67985929 67985929 single base substitution T C intron_variant MELA-AU 18 67985998 67985998 single base substitution C T intron_variant MELA-AU 18 67986631 67986631 single base substitution C T intron_variant MELA-AU 18 67986801 67986801 single base substitution T C intron_variant MELA-AU 18 67987132 67987132 single base substitution C T intron_variant MELA-AU 18 67987414 67987414 single base substitution G A intron_variant MELA-AU 18 67987672 67987672 single base substitution C T intron_variant MELA-AU 18 67987806 67987806 single base substitution G A intron_variant MELA-AU 18 67988586 67988586 single base substitution C T intron_variant MELA-AU 18 67989218 67989218 single base substitution T C intron_variant MELA-AU 18 67989782 67989799 deletion of <=200bp TCTCACATTTAGTAGGGT - intron_variant MELA-AU 18 67992275 67992275 single base substitution C T missense_variant S124F 371C>T MELA-AU 18 67992439 67992439 single base substitution C T stop_gained Q179* 535C>T MELA-AU 18 67992690 67992690 single base substitution C T downstream_gene_variant MELA-AU 18 67992690 67992690 single base substitution C T synonymous_variant F262F 786C>T MELA-AU 18 67992744 67992744 single base substitution C T downstream_gene_variant MELA-AU 18 67992744 67992744 single base substitution C T synonymous_variant F280F 840C>T MELA-AU 18 67993118 67993118 single base substitution C T downstream_gene_variant MELA-AU 18 67993118 67993118 single base substitution C T missense_variant S405F 1214C>T MELA-AU 18 67993350 67993350 single base substitution T C downstream_gene_variant MELA-AU 18 67993350 67993350 single base substitution T C synonymous_variant T482T 1446T>C MELA-AU 18 67993926 67993926 single base substitution G A 3_prime_UTR_variant MELA-AU 18 67993926 67993926 single base substitution G A downstream_gene_variant MELA-AU 18 67995674 67995674 single base substitution C T 3_prime_UTR_variant MELA-AU 18 67995674 67995674 single base substitution C T downstream_gene_variant MELA-AU 18 67995685 67995685 single base substitution C T 3_prime_UTR_variant MELA-AU 18 67995685 67995685 single base substitution C T downstream_gene_variant MELA-AU 18 67995832 67995832 single base substitution A T 3_prime_UTR_variant MELA-AU 18 67995832 67995832 single base substitution A T downstream_gene_variant MELA-AU 18 67996318 67996318 single base substitution C T 3_prime_UTR_variant MELA-AU 18 67996318 67996318 single base substitution C T downstream_gene_variant MELA-AU 18 67997425 67997425 single base substitution C T 3_prime_UTR_variant MELA-AU 18 67997425 67997425 single base substitution C T downstream_gene_variant MELA-AU 18 67998198 67998198 single base substitution C T downstream_gene_variant MELA-AU 18 67998995 67998995 single base substitution A G downstream_gene_variant MELA-AU 18 67999054 67999055 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 18 67999545 67999545 single base substitution C T downstream_gene_variant MELA-AU 18 67999553 67999553 single base substitution A G downstream_gene_variant MELA-AU 18 67999641 67999641 single base substitution C T downstream_gene_variant MELA-AU 18 68000019 68000019 single base substitution C T downstream_gene_variant MELA-AU 18 68000330 68000330 single base substitution C T downstream_gene_variant MELA-AU 18 68000356 68000356 single base substitution C T downstream_gene_variant MELA-AU 18 68000499 68000499 single base substitution G A downstream_gene_variant MELA-AU 18 68000724 68000725 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 18 68000738 68000738 single base substitution C T downstream_gene_variant MELA-AU 18 68001175 68001175 single base substitution C T downstream_gene_variant MELA-AU 18 68001246 68001246 single base substitution G A downstream_gene_variant MELA-AU 18 68001286 68001286 single base substitution G A downstream_gene_variant MELA-AU 18 68001435 68001435 single base substitution G A downstream_gene_variant MELA-AU 18 68001771 68001771 single base substitution A G downstream_gene_variant MELA-AU 18 68001851 68001851 single base substitution G C downstream_gene_variant ORCA-IN 18 67953100 67953100 single base substitution G T upstream_gene_variant ORCA-IN 18 67957486 67957486 single base substitution C G intron_variant ORCA-IN 18 67977701 67977701 deletion of <=200bp G - intron_variant ORCA-IN 18 67977701 67977701 deletion of <=200bp G - upstream_gene_variant ORCA-IN 18 67984815 67984815 single base substitution A C intron_variant OV-AU 18 67952076 67952076 single base substitution C A upstream_gene_variant OV-AU 18 67952942 67952942 single base substitution G A upstream_gene_variant OV-AU 18 67954536 67954536 single base substitution T A upstream_gene_variant OV-AU 18 67955844 67955844 single base substitution G T upstream_gene_variant OV-AU 18 67961325 67961325 single base substitution T C intron_variant OV-AU 18 67961325 67961325 single base substitution T C upstream_gene_variant OV-AU 18 67985930 67985930 single base substitution T G intron_variant OV-AU 18 67988863 67988863 single base substitution G A intron_variant OV-AU 18 67992030 67992030 single base substitution A G synonymous_variant L42L 126A>G OV-AU 18 67992516 67992516 single base substitution C A missense_variant H204Q 612C>A OV-AU 18 67993507 67993507 single base substitution T C downstream_gene_variant OV-AU 18 67993507 67993507 single base substitution T C missense_variant Y535H 1603T>C PACA-AU 18 67956860 67956860 single base substitution G C intron_variant PACA-AU 18 67969397 67969397 single base substitution A G intron_variant PACA-AU 18 67973518 67973518 single base substitution G A intron_variant PACA-AU 18 67981223 67981223 single base substitution A T intron_variant PACA-AU 18 67981223 67981223 single base substitution A T upstream_gene_variant PACA-AU 18 67987005 67987005 single base substitution G A intron_variant PACA-CA 18 67951497 67951497 single base substitution T C upstream_gene_variant PACA-CA 18 67954164 67954164 single base substitution A G upstream_gene_variant PACA-CA 18 67955362 67955362 deletion of <=200bp T - upstream_gene_variant PACA-CA 18 67967234 67967234 single base substitution T C intron_variant PACA-CA 18 67977699 67977699 deletion of <=200bp G - intron_variant PACA-CA 18 67977699 67977699 deletion of <=200bp G - upstream_gene_variant PACA-CA 18 67984513 67984513 single base substitution G A intron_variant PACA-CA 18 67990585 67990585 insertion of <=200bp - T intron_variant PACA-CA 18 67991619 67991619 single base substitution C T intron_variant PACA-CA 18 67991856 67991856 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 18 67992095 67992095 insertion of <=200bp - A frameshift_variant G64E? PACA-CA 18 67993794 67993794 insertion of <=200bp - C 3_prime_UTR_variant PACA-CA 18 67993794 67993794 insertion of <=200bp - C downstream_gene_variant PACA-CA 18 67993795 67993795 deletion of <=200bp C - 3_prime_UTR_variant PACA-CA 18 67993795 67993795 deletion of <=200bp C - downstream_gene_variant PACA-CA 18 67996574 67996574 single base substitution G A 3_prime_UTR_variant PACA-CA 18 67996574 67996574 single base substitution G A downstream_gene_variant PACA-CA 18 67998056 67998056 single base substitution G A downstream_gene_variant PACA-CA 18 68002046 68002046 single base substitution C T downstream_gene_variant PAEN-AU 18 67951523 67951523 single base substitution A T upstream_gene_variant PAEN-IT 18 67997990 67997990 single base substitution A C downstream_gene_variant PBCA-DE 18 67951460 67951460 single base substitution C A upstream_gene_variant PBCA-DE 18 67954050 67954050 single base substitution C T upstream_gene_variant PBCA-DE 18 67964478 67964478 single base substitution C T intron_variant PBCA-DE 18 67967171 67967171 single base substitution G A intron_variant PBCA-DE 18 67984656 67984657 deletion of <=200bp GT - intron_variant PBCA-DE 18 67985848 67985848 single base substitution G T intron_variant PBCA-DE 18 67990844 67990844 single base substitution G A intron_variant PBCA-DE 18 67995314 67995314 single base substitution T A 3_prime_UTR_variant PBCA-DE 18 67995314 67995314 single base substitution T A downstream_gene_variant PBCA-DE 18 67995960 67995960 single base substitution G A 3_prime_UTR_variant PBCA-DE 18 67995960 67995960 single base substitution G A downstream_gene_variant PBCA-DE 18 68001707 68001707 single base substitution C T downstream_gene_variant PRAD-CA 18 67984790 67984790 single base substitution T C intron_variant PRAD-CA 18 68000850 68000850 single base substitution C G downstream_gene_variant PRAD-CA 18 68001108 68001108 single base substitution C T downstream_gene_variant PRAD-CA 18 68001268 68001268 single base substitution C T downstream_gene_variant PRAD-CA 18 68001461 68001461 single base substitution C G downstream_gene_variant PRAD-CA 18 68001760 68001760 single base substitution C T downstream_gene_variant PRAD-UK 18 67957752 67957752 single base substitution A T intron_variant PRAD-UK 18 67961581 67961581 deletion of <=200bp G - intron_variant PRAD-UK 18 67961581 67961581 deletion of <=200bp G - upstream_gene_variant PRAD-UK 18 67967257 67967257 single base substitution A G intron_variant PRAD-UK 18 67978950 67978950 single base substitution A T intron_variant PRAD-UK 18 67978950 67978950 single base substitution A T upstream_gene_variant PRAD-UK 18 67980735 67980735 insertion of <=200bp - T intron_variant PRAD-UK 18 67980735 67980735 insertion of <=200bp - T upstream_gene_variant PRAD-UK 18 67980738 67980738 insertion of <=200bp - T intron_variant PRAD-UK 18 67980738 67980738 insertion of <=200bp - T upstream_gene_variant PRAD-UK 18 67980741 67980741 single base substitution A G intron_variant PRAD-UK 18 67980741 67980741 single base substitution A G upstream_gene_variant PRAD-UK 18 67999366 67999367 deletion of <=200bp AG - downstream_gene_variant READ-US 18 67992660 67992660 single base substitution G A downstream_gene_variant READ-US 18 67992660 67992660 single base substitution G A synonymous_variant A252A 756G>A RECA-EU 18 67951337 67951337 single base substitution T C upstream_gene_variant RECA-EU 18 67962921 67962921 single base substitution T A intron_variant RECA-EU 18 67962921 67962921 single base substitution T A upstream_gene_variant RECA-EU 18 67963129 67963129 single base substitution A G intron_variant RECA-EU 18 67963129 67963129 single base substitution A G upstream_gene_variant RECA-EU 18 67968370 67968370 single base substitution G T intron_variant RECA-EU 18 67974056 67974056 single base substitution A C intron_variant RECA-EU 18 67974063 67974063 single base substitution C T intron_variant RECA-EU 18 67994194 67994194 single base substitution T A 3_prime_UTR_variant RECA-EU 18 67994194 67994194 single base substitution T A downstream_gene_variant SKCA-BR 18 67956588 67956588 single base substitution A G intron_variant SKCA-BR 18 67959278 67959278 single base substitution G T intron_variant SKCA-BR 18 67959278 67959278 single base substitution G T upstream_gene_variant SKCA-BR 18 67961337 67961341 deletion of <=200bp AAAAG - intron_variant SKCA-BR 18 67961337 67961341 deletion of <=200bp AAAAG - upstream_gene_variant SKCA-BR 18 67961341 67961341 single base substitution G A intron_variant SKCA-BR 18 67961341 67961341 single base substitution G A upstream_gene_variant SKCA-BR 18 67964142 67964142 insertion of <=200bp - CT intron_variant SKCA-BR 18 67969195 67969195 single base substitution G T intron_variant SKCA-BR 18 67971840 67971841 deletion of <=200bp TG - intron_variant SKCA-BR 18 67973713 67973716 deletion of <=200bp CAAA - intron_variant SKCA-BR 18 67977689 67977689 single base substitution C T intron_variant SKCA-BR 18 67977689 67977689 single base substitution C T upstream_gene_variant SKCA-BR 18 67977704 67977704 insertion of <=200bp - GT intron_variant SKCA-BR 18 67977704 67977704 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 18 67978174 67978174 single base substitution A G intron_variant SKCA-BR 18 67978174 67978174 single base substitution A G upstream_gene_variant SKCA-BR 18 67979220 67979220 single base substitution C T intron_variant SKCA-BR 18 67979220 67979220 single base substitution C T upstream_gene_variant SKCA-BR 18 67980007 67980007 insertion of <=200bp - ATT intron_variant SKCA-BR 18 67980007 67980007 insertion of <=200bp - ATT upstream_gene_variant SKCA-BR 18 67986990 67986990 single base substitution C T intron_variant SKCA-BR 18 67992187 67992187 single base substitution T C missense_variant S95P 283T>C SKCA-BR 18 67997425 67997425 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 67997425 67997425 single base substitution C T downstream_gene_variant SKCA-BR 18 67997488 67997488 single base substitution T G downstream_gene_variant SKCA-BR 18 67998435 67998435 single base substitution G T downstream_gene_variant SKCA-BR 18 67999279 67999279 single base substitution C T downstream_gene_variant SKCA-BR 18 68001230 68001230 single base substitution C T downstream_gene_variant SKCM-US 18 67992221 67992221 single base substitution C T missense_variant S106F 317C>T SKCM-US 18 67992275 67992275 single base substitution C T missense_variant S124F 371C>T SKCM-US 18 67992581 67992581 single base substitution C T missense_variant P226L 677C>T SKCM-US 18 67992721 67992721 single base substitution C T downstream_gene_variant SKCM-US 18 67992721 67992721 single base substitution C T synonymous_variant L273L 817C>T SKCM-US 18 67993118 67993118 single base substitution C T downstream_gene_variant SKCM-US 18 67993118 67993118 single base substitution C T missense_variant S405F 1214C>T SKCM-US 18 67993350 67993350 single base substitution T C downstream_gene_variant SKCM-US 18 67993350 67993350 single base substitution T C synonymous_variant T482T 1446T>C STAD-US 18 67992096 67992096 insertion of <=200bp - A frameshift_variant G64G? STAD-US 18 67992102 67992102 single base substitution C T synonymous_variant N66N 198C>T STAD-US 18 67992757 67992757 single base substitution G A downstream_gene_variant STAD-US 18 67992757 67992757 single base substitution G A missense_variant V285M 853G>A STAD-US 18 67993058 67993058 single base substitution A G downstream_gene_variant STAD-US 18 67993058 67993058 single base substitution A G missense_variant Y385C 1154A>G STAD-US 18 67993118 67993118 single base substitution C A downstream_gene_variant STAD-US 18 67993118 67993118 single base substitution C A missense_variant S405Y 1214C>A STAD-US 18 67993122 67993122 single base substitution T C downstream_gene_variant STAD-US 18 67993122 67993122 single base substitution T C synonymous_variant F406F 1218T>C STAD-US 18 67993331 67993331 single base substitution G A downstream_gene_variant STAD-US 18 67993331 67993331 single base substitution G A missense_variant R476Q 1427G>A THCA-SA 18 67956300 67956300 single base substitution G A 5_prime_UTR_variant THCA-SA 18 67992279 67992279 single base substitution G A synonymous_variant T125T 375G>A UCEC-US 18 67992142 67992142 single base substitution C T missense_variant R80W 238C>T UCEC-US 18 67992422 67992422 single base substitution A C missense_variant K173T 518A>C UCEC-US 18 67993261 67993261 single base substitution T C downstream_gene_variant UCEC-US 18 67993261 67993261 single base substitution T C missense_variant S453P 1357T>C UCEC-US 18 67993303 67993303 single base substitution A G downstream_gene_variant UCEC-US 18 67993303 67993303 single base substitution A G missense_variant N467D 1399A>G UCEC-US 18 67993400 67993400 single base substitution C T downstream_gene_variant UCEC-US 18 67993400 67993400 single base substitution C T missense_variant S499L 1496C>T UCEC-US 18 67993430 67993430 single base substitution G A downstream_gene_variant UCEC-US 18 67993430 67993430 single base substitution G A missense_variant R509H 1526G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-06-2558 COSM2152603 c.166A>G p.I56V Substitution - Missense 18:70324834-70324834 + C089 COSM3145529 c.297C>T p.A99A Substitution - coding silent 18:70324965-70324965 + 40M COSM5586641 c.529G>C p.D177H Substitution - Missense 18:70325197-70325197 + HCC135T COSM4467905 c.1513C>T p.R505C Substitution - Missense 18:70326181-70326181 + TCGA-BR-8680-01 COSM4073099 c.1214C>A p.S405Y Substitution - Missense 18:70325882-70325882 + TCGA-D1-A103-01 COSM989762 c.1526G>A p.R509H Substitution - Missense 18:70326194-70326194 + TCGA-CM-4747-01 COSM1389620 c.1022G>A p.R341H Substitution - Missense 18:70325690-70325690 + TCGA-A7-A2KD-01 COSM3527380 c.1214C>T p.S405F Substitution - Missense 18:70325882-70325882 + HX13T COSM1611384 c.826G>A p.A276T Substitution - Missense 18:70325494-70325494 + TCGA-BG-A0MI-01 COSM989761 c.1496C>T p.S499L Substitution - Missense 18:70326164-70326164 + TCGA-A6-6653-01 COSM1389621 c.1304A>G p.H435R Substitution - Missense 18:70325972-70325972 + ESO-859 COSM1240278 c.529G>A p.D177N Substitution - Missense 18:70325197-70325197 + TCGA-EB-A3Y7-01 COSM3527379 c.817C>T p.L273L Substitution - coding silent 18:70325485-70325485 + Au3 COSM5602347 c.1451C>T p.P484L Substitution - Missense 18:70326119-70326119 + TCGA-EE-A3AA-06 COSM3527377 c.371C>T p.S124F Substitution - Missense 18:70325039-70325039 + 587342 COSM1227094 c.500C>T p.A167V Substitution - Missense 18:70325168-70325168 + TCGA-BH-A0BT-01 COSM438346 c.778C>T p.R260C Substitution - Missense 18:70325446-70325446 + TCGA-HU-A4GQ-01 COSM3145542 c.853G>A p.V285M Substitution - Missense 18:70325521-70325521 + TCGA-BC-A10W-01 COSM4937301 c.754G>A p.A252T Substitution - Missense 18:70325422-70325422 + LUAD-S01357 COSM386898 c.134G>T p.S45I Substitution - Missense 18:70324802-70324802 + TCGA-HT-A5R9-01 COSM989762 c.1526G>A p.R509H Substitution - Missense 18:70326194-70326194 + TCGA-AZ-4615-01 COSM3692178 c.298G>A p.D100N Substitution - Missense 18:70324966-70324966 + TCGA-BR-6452-01 COSM4073101 c.1427G>A p.R476Q Substitution - Missense 18:70326095-70326095 + TCGA-EI-6507-01 COSM1564008 c.756G>A p.A252A Substitution - coding silent 18:70325424-70325424 + TCGA-AZ-6601-01 COSM1389618 c.781G>A p.A261T Substitution - Missense 18:70325449-70325449 + HCC4T COSM1611384 c.826G>A p.A276T Substitution - Missense 18:70325494-70325494 + YUOTHO COSM5388403 c.314C>T p.S105F Substitution - Missense 18:70324982-70324982 + T578 COSM4728898 c.432C>T p.S144S Substitution - coding silent 18:70325100-70325100 + ESCC_10 COSM5623856 c.1568C>G p.P523R Substitution - Missense 18:70326236-70326236 + TCGA-AO-A128-01 COSM1611384 c.826G>A p.A276T Substitution - Missense 18:70325494-70325494 + HCC15T COSM1611385 c.976T>G p.F326V Substitution - Missense 18:70325644-70325644 + TCGA-AA-3833-01 COSM271536 c.755C>T p.A252V Substitution - Missense 18:70325423-70325423 + T3080 COSM4728899 c.1315A>G p.R439G Substitution - Missense 18:70325983-70325983 + TCGA-CM-5861-01 COSM1389619 c.900G>A p.P300P Substitution - coding silent 18:70325568-70325568 + TCGA-B5-A11Y-01 COSM989760 c.1399A>G p.N467D Substitution - Missense 18:70326067-70326067 + TCGA-06-2558-01 COSM2152603 c.166A>G p.I56V Substitution - Missense 18:70324834-70324834 + TCGA-D1-A103-01 COSM989759 c.1357T>C p.S453P Substitution - Missense 18:70326025-70326025 + SA069 COSM213206 c.964A>C p.I322L Substitution - Missense 18:70325632-70325632 + TCGA-BH-A18F-01 COSM438345 c.224G>T p.G75V Substitution - Missense 18:70324892-70324892 + CSCC-27-T COSM4467905 c.1513C>T p.R505C Substitution - Missense 18:70326181-70326181 + HCC4 COSM1611384 c.826G>A p.A276T Substitution - Missense 18:70325494-70325494 + LUAD-F00365 COSM340490 c.324A>T p.S108S Substitution - coding silent 18:70324992-70324992 + PD4132a COSM164521 c.1578G>A p.M526I Substitution - Missense 18:70326246-70326246 + TCGA-26-1442-01 COSM3403628 c.592A>G p.N198D Substitution - Missense 18:70325260-70325260 + AOCS-144-1-3 COSM4140150 c.126A>G p.L42L Substitution - coding silent 18:70324794-70324794 + PD4596a COSM164522 c.916G>T p.D306Y Substitution - Missense 18:70325584-70325584 + ESCC_BICR_048T COSM5432338 c.253C>T p.Q85* Substitution - Nonsense 18:70324921-70324921 + 19M COSM5579635 c.1335G>A p.Q445Q Substitution - coding silent 18:70326003-70326003 + TCGA-C5-A1BK-01 COSM4826238 c.1382C>A p.S461* Substitution - Nonsense 18:70326050-70326050 + TCGA-D3-A5GU-06 COSM3527378 c.677C>T p.P226L Substitution - Missense 18:70325345-70325345 + ESCC_BICR_023T COSM5436406 c.450G>A p.K150K Substitution - coding silent 18:70325118-70325118 + LP6005409-DNA_E01 COSM4409235 c.346G>A p.V116M Substitution - Missense 18:70325014-70325014 + TCGA-D1-A167-01 COSM989757 c.238C>T p.R80W Substitution - Missense 18:70324906-70324906 + LUAD-S01315 COSM344660 c.1201G>T p.V401L Substitution - Missense 18:70325869-70325869 + TCGA-18-3406-01 COSM709018 c.876C>A p.T292T Substitution - coding silent 18:70325544-70325544 + EGC15 COSM5056108 c.1514G>A p.R505H Substitution - Missense 18:70326182-70326182 + H838 COSM1193100 c.92C>T p.S31L Substitution - Missense 18:70324760-70324760 + RK172_C01 COSM3701393 c.1458A>G p.R486R Substitution - coding silent 18:70326126-70326126 + ESO-139 COSM1266408 c.231A>T p.L77L Substitution - coding silent 18:70324899-70324899 + TCGA-EE-A20C-06 COSM3527381 c.1446T>C p.T482T Substitution - coding silent 18:70326114-70326114 + TCGA-CG-4306-01 COSM4073097 c.198C>T p.N66N Substitution - coding silent 18:70324866-70324866 + ATL017 COSM5706800 c.1237G>C p.D413H Substitution - Missense 18:70325905-70325905 + 587284 COSM438346 c.778C>T p.R260C Substitution - Missense 18:70325446-70325446 + ESCC_47 COSM5630734 c.1525C>T p.R509C Substitution - Missense 18:70326193-70326193 + HCC058T COSM5804802 c.269A>T p.K90M Substitution - Missense 18:70324937-70324937 + TCGA-BH-A18Q-01 COSM438347 c.1061T>A p.V354D Substitution - Missense 18:70325729-70325729 + TCGA-C5-A1BL-01 COSM4837006 c.837C>T p.I279I Substitution - coding silent 18:70325505-70325505 + TCGA-EE-A2MJ-06 COSM3527380 c.1214C>T p.S405F Substitution - Missense 18:70325882-70325882 + PT14_1 COSM5897161 c.739C>T p.P247S Substitution - Missense 18:70325407-70325407 + TCGA-B0-4816-01 COSM474017 c.1264T>C p.F422L Substitution - Missense 18:70325932-70325932 + TCGA-CU-A3YL-01 COSM474016 c.1079C>T p.S360L Substitution - Missense 18:70325747-70325747 + 08-P054 COSM4580512 c.1473G>T p.V491V Substitution - coding silent 18:70326141-70326141 + sysucc-880T COSM5462771 c.1387A>G p.R463G Substitution - Missense 18:70326055-70326055 + D28 COSM5545859 c.926C>T p.P309L Substitution - Missense 18:70325594-70325594 + TCGA-BC-A10R-01 COSM4935912 c.820G>C p.V274L Substitution - Missense 18:70325488-70325488 + pfg057T COSM4756864 c.1241A>G p.D414G Substitution - Missense 18:70325909-70325909 + AOCS-137-3-7 COSM4140152 c.1603T>C p.Y535H Substitution - Missense 18:70326271-70326271 + HCC15 COSM1611385 c.976T>G p.F326V Substitution - Missense 18:70325644-70325644 + PR-3127 COSM247513 c.51A>T p.K17N Substitution - Missense 18:70324719-70324719 + C089 COSM5543464 c.296C>T p.A99V Substitution - Missense 18:70324964-70324964 + pfg014T COSM1641019 c.1370T>G p.L457R Substitution - Missense 18:70326038-70326038 + TCGA-GV-A3JZ-01 COSM1303840 c.348G>A p.V116V Substitution - coding silent 18:70325016-70325016 + 19M COSM5579634 c.613C>T p.L205L Substitution - coding silent 18:70325281-70325281 + TCGA-CC-A7II-01 COSM4937640 c.802C>T p.Q268* Substitution - Nonsense 18:70325470-70325470 + 86567 COSM95258 c.1207G>C p.D403H Substitution - Missense 18:70325875-70325875 + AOCS-133-1-9 COSM4140151 c.612C>A p.H204Q Substitution - Missense 18:70325280-70325280 + 585270 COSM323514 c.856A>G p.N286D Substitution - Missense 18:70325524-70325524 + TCGA-EK-A2RB-01 COSM4820031 c.148G>T p.D50Y Substitution - Missense 18:70324816-70324816 + CSCC-44-T COSM4508039 c.763C>T p.P255S Substitution - Missense 18:70325431-70325431 + TCGA-DK-A2I1-01 COSM1303841 c.573G>A p.L191L Substitution - coding silent 18:70325241-70325241 + TCGA-BR-6452-01 COSM4073100 c.1218T>C p.F406F Substitution - coding silent 18:70325886-70325886 + S00936 COSM315492 c.469G>A p.A157T Substitution - Missense 18:70325137-70325137 + RK308_C01 COSM3742679 c.1082T>C p.V361A Substitution - Missense 18:70325750-70325750 + TCGA-MU-A5YI-01 COSM4855249 c.1493G>A p.R498H Substitution - Missense 18:70326161-70326161 + sysucc-880T COSM1266408 c.231A>T p.L77L Substitution - coding silent 18:70324899-70324899 + TCGA-BR-4362-01 COSM4073098 c.1154A>G p.Y385C Substitution - Missense 18:70325822-70325822 + CAL27 COSM3145519 c.181G>C p.E61Q Substitution - Missense 18:70324849-70324849 + S02246 COSM5678926 c.646A>G p.M216V Substitution - Missense 18:70325314-70325314 + TCGA-22-5480-01 COSM709019 c.270G>T p.K90N Substitution - Missense 18:70324938-70324938 + PD8977a COSM4276555 c.1267C>T p.R423C Substitution - Missense 18:70325935-70325935 + Mx22 COSM33395 c.254_255delAG p.K86fs*28 Deletion - Frameshift 18:70324922-70324923 + PR-01-2492 COSM247512 c.656A>G p.D219G Substitution - Missense 18:70325324-70325324 + ATL030 COSM5706799 c.568T>C p.S190P Substitution - Missense 18:70325236-70325236 + TCGA-AN-A046-01 COSM3821697 c.115G>T p.D39Y Substitution - Missense 18:70324783-70324783 + 66 COSM5743912 c.1021C>T p.R341C Substitution - Missense 18:70325689-70325689 + TCGA-39-5035-01 COSM709017 c.1453G>A p.V485I Substitution - Missense 18:70326121-70326121 + TCGA-A7-A2KD-01 COSM3821698 c.1358C>T p.S453F Substitution - Missense 18:70326026-70326026 + YUOMEGA COSM5388404 c.924T>C p.P308P Substitution - coding silent 18:70325592-70325592 + TCGA-EE-A29E-06 COSM3527376 c.317C>T p.S106F Substitution - Missense 18:70324985-70324985 + TCGA-25-1313-01 COSM117324 c.419G>A p.R140Q Substitution - Missense 18:70325087-70325087 + TCGA-BS-A0UJ-01 COSM989758 c.518A>C p.K173T Substitution - Missense 18:70325186-70325186 + LUAD-S01478 COSM399786 c.904G>T p.A302S Substitution - Missense 18:70325572-70325572 + YUGATOR COSM5388402 c.198C>A p.N66K Substitution - Missense 18:70324866-70324866 + 587338 COSM1227093 c.1477C>T p.R493W Substitution - Missense 18:70326145-70326145 + A9 COSM3145538 c.652C>G p.Q218E Substitution - Missense 18:70325320-70325320 + H650 COSM1194611 c.274G>T p.G92C Substitution - Missense 18:70324942-70324942 + TCGA-BP-5176-01 COSM474016 c.1079C>T p.S360L Substitution - Missense 18:70325747-70325747 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.44439 18q22.2 605118 1519916|dbSNP|BC020082|C/T|coding|Leu500Leu|1687|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I322L c.964A>C 18 67992868 BRCA A G 3-UTRSNV . c.1605+1836A>G 18 67995345 HC AG - Frameshift p.K86Vfs*28 c.255_256delGA 18 67992158 COREAD A G Missense p.I462V c.1384A>G 18 67993288 HNSC A G Missense p.I56V c.166A>G 18 67992070 GBM A G Missense p.N198D c.592A>G 18 67992496 GBM A G Missense p.N286D c.856A>G 18 67992760 SCLC A G Missense p.N467D c.1399A>G 18 67993303 UCEC A T Synonymous p.L77L c.231A>T 18 67992135 ESCA C A Synonymous p.I56I c.168C>A 18 67992072 LUAD C A Synonymous p.T292T c.876C>A 18 67992780 LUSC C T Missense p.P352S c.1054C>T 18 67992958 CM C T Missense p.R260C c.778C>T 18 67992682 BRCA C T Missense p.S124F c.371C>T 18 67992275 CM C T Missense p.S360L c.1079C>T 18 67992983 RCCC C T Missense p.S405F c.1214C>T 18 67993118 CM C T Missense p.S499L c.1496C>T 18 67993400 UCEC C T Nonsense p.Q510* c.1528C>T 18 67993432 CM C T Synonymous p.N66N c.198C>T 18 67992102 STAD C T Synonymous p.P484P c.1452C>T 18 67993356 CM G A Missense p.A157T c.469G>A 18 67992373 SCLC G A Missense p.D177N c.529G>A 18 67992433 ESCA G A Missense p.G387E c.1160G>A 18 67993064 LUAD G A Missense p.M526I c.1578G>A 18 67993482 BRCA G A Missense p.R140Q c.419G>A 18 67992323 OV G A Missense p.V171I c.511G>A 18 67992415 COREAD G A Missense p.V250I c.748G>A 18 67992652 HNSC G A Missense p.V401M c.1201G>A 18 67993105 HNSC G A Missense p.V485I c.1453G>A 18 67993357 LUSC G A Synonymous p.L191L c.573G>A 18 67992477 BLCA G A Synonymous p.V116V c.348G>A 18 67992252 BLCA G T Missense p.D306Y c.916G>T 18 67992820 BRCA G T Missense p.G75V c.224G>T 18 67992128 BRCA G T Missense p.K90N c.270G>T 18 67992174 LUSC G T Nonsense p.G328* c.982G>T 18 67992886 LUAD G T Nonsense p.G37* c.109G>T 18 67992013 MM G T Synonymous p.P136P c.408G>T 18 67992312 LUAD T A Missense p.V354D c.1061T>A 18 67992965 BRCA T C Synonymous p.T482T c.1446T>C 18 67993350 CM T G Missense p.L457R c.1370T>G 18 67993274 STAD