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 7 99507254 99507254 + Silent SNP G G A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr7:99507254G>A c.501C>T c.(499-501)ctC>ctT p.L167L BLCA 7 99490105 99490105 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr7:99490105C>A c.1184G>T c.(1183-1185)gGg>gTg p.G395V BLCA 7 99490167 99490167 + Silent SNP A A G TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr7:99490167A>G c.1122T>C c.(1120-1122)gtT>gtC p.V374V BLCA 7 99490261 99490261 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr7:99490261G>A c.1028C>T c.(1027-1029)tCa>tTa p.S343L BLCA 7 99506363 99506363 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr7:99506363C>G c.640G>C c.(640-642)Gag>Cag p.E214Q BLCA 7 99507267 99507267 + Missense_Mutation SNP G G C TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 g.chr7:99507267G>C c.488C>G c.(487-489)tCt>tGt p.S163C BRCA 7 99489881 99489881 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr7:99489881T>G c.1408A>C c.(1408-1410)Acc>Ccc p.T470P BRCA 7 99489980 99489980 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr7:99489980T>G c.1309A>C c.(1309-1311)Acc>Ccc p.T437P BRCA 7 99490037 99490037 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr7:99490037C>A c.1252G>T c.(1252-1254)Gcg>Tcg p.A418S BRCA 7 99490102 99490102 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr7:99490102A>C c.1187T>G c.(1186-1188)gTg>gGg p.V396G BRCA 7 99506245 99506245 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr7:99506245A>C c.758T>G c.(757-759)gTg>gGg p.V253G BRCA 7 99516656 99516656 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr7:99516656G>C c.369C>G c.(367-369)atC>atG p.I123M BRCA 7 99517012 99517012 + Frame_Shift_Del DEL C C - TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 g.chr7:99517012delC c.13delG c.(13-15)gacfs p.D5fs COAD 7 99490069 99490069 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr7:99490069C>T c.1220G>A c.(1219-1221)cGt>cAt p.R407H COAD 7 99490171 99490171 + Frame_Shift_Del DEL T T - TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr7:99490171delT c.1118delA c.(1117-1119)aacfs p.N373fs COAD 7 99490204 99490204 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:99490204C>A c.1085G>T c.(1084-1086)aGa>aTa p.R362I COAD 7 99500890 99500890 + Silent SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr7:99500890C>T c.870G>A c.(868-870)aaG>aaA p.K290K COAD 7 99506213 99506213 + Missense_Mutation SNP G G C TCGA-AA-A01K-01A-01W-A00E-09 TCGA-AA-A01K-10A-01W-A00E-09 g.chr7:99506213G>C c.790C>G c.(790-792)Ctg>Gtg p.L264V COAD 7 99506340 99506340 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr7:99506340C>A c.663G>T c.(661-663)ttG>ttT p.L221F COADREAD 7 99490069 99490069 + Missense_Mutation SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr7:99490069C>T c.1220G>A c.(1219-1221)cGt>cAt p.R407H COADREAD 7 99490171 99490171 + Frame_Shift_Del DEL T T - TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr7:99490171delT c.1118delA c.(1117-1119)aacfs p.N373fs COADREAD 7 99490204 99490204 + Missense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr7:99490204C>A c.1085G>T c.(1084-1086)aGa>aTa p.R362I COADREAD 7 99500890 99500890 + Silent SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr7:99500890C>T c.870G>A c.(868-870)aaG>aaA p.K290K COADREAD 7 99506213 99506213 + Missense_Mutation SNP G G C TCGA-AA-A01K-01A-01W-A00E-09 TCGA-AA-A01K-10A-01W-A00E-09 g.chr7:99506213G>C c.790C>G c.(790-792)Ctg>Gtg p.L264V COADREAD 7 99506340 99506340 + Missense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr7:99506340C>A c.663G>T c.(661-663)ttG>ttT p.L221F COADREAD 7 99506410 99506410 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:99506410C>A c.593G>T c.(592-594)aGa>aTa p.R198I DLBC 7 99507230 99507230 + Missense_Mutation SNP C C T TCGA-FF-A7CR-01A-11D-A382-10 TCGA-FF-A7CR-10A-01D-A385-10 g.chr7:99507230C>T c.525G>A c.(523-525)atG>atA p.M175I ESCA 7 99489839 99489839 + Frame_Shift_Del DEL A A - TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr7:99489839delA c.1450delT c.(1450-1452)tggfs p.W484fs ESCA 7 99489970 99489970 + Missense_Mutation SNP T T A TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 g.chr7:99489970T>A c.1319A>T c.(1318-1320)gAg>gTg p.E440V ESCA 7 99506320 99506320 + Missense_Mutation SNP G G A TCGA-L5-A4OS-01A-11D-A28B-09 TCGA-L5-A4OS-11A-11D-A28E-09 g.chr7:99506320G>A c.683C>T c.(682-684)aCg>aTg p.T228M GBM 7 99507253 99507253 + Missense_Mutation SNP C C T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 g.chr7:99507253C>T c.502G>A c.(502-504)Gtg>Atg p.V168M GBM 7 99516656 99516656 + Silent SNP G G A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 g.chr7:99516656G>A c.369C>T c.(367-369)atC>atT p.I123I GBM 7 99516919 99516919 + Missense_Mutation SNP G G T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 g.chr7:99516919G>T c.106C>A c.(106-108)Ctg>Atg p.L36M GBMLGG 7 99507253 99507253 + Missense_Mutation SNP C C T TCGA-12-0615-01A-01D-1492-08 TCGA-12-0615-10A-01D-1492-08 g.chr7:99507253C>T c.502G>A c.(502-504)Gtg>Atg p.V168M GBMLGG 7 99516656 99516656 + Silent SNP G G A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 g.chr7:99516656G>A c.369C>T c.(367-369)atC>atT p.I123I GBMLGG 7 99516919 99516919 + Missense_Mutation SNP G G T TCGA-06-0119-01A-08D-1490-08 TCGA-06-0119-10A-01D-1490-08 g.chr7:99516919G>T c.106C>A c.(106-108)Ctg>Atg p.L36M HNSC 7 99489911 99489913 + In_Frame_Del DEL AGA AGA - TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 g.chr7:99489911_99489913delAGA c.1376_1378delTCT c.(1375-1380)ttctac>tac p.F459del HNSC 7 99489924 99489924 + Silent SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr7:99489924C>T c.1365G>A c.(1363-1365)ggG>ggA p.G455G HNSC 7 99490134 99490134 + Missense_Mutation SNP C C G TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr7:99490134C>G c.1155G>C c.(1153-1155)gaG>gaC p.E385D HNSC 7 99507277 99507277 + Missense_Mutation SNP G G T TCGA-P3-A5Q6-01A-11D-A28R-08 TCGA-P3-A5Q6-10A-01D-A28U-08 g.chr7:99507277G>T c.478C>A c.(478-480)Ctt>Att p.L160I HNSC 7 99516950 99516950 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr7:99516950G>C c.75C>G c.(73-75)atC>atG p.I25M KICH 7 99514382 99514382 + Silent SNP G G A TCGA-KM-8440-01A-11D-2310-10 TCGA-KM-8440-10A-01D-2311-10 g.chr7:99514382G>A c.414C>T c.(412-414)caC>caT p.H138H KIPAN 7 99514382 99514382 + Silent SNP G G A TCGA-KM-8440-01A-11D-2310-10 TCGA-KM-8440-10A-01D-2311-10 g.chr7:99514382G>A c.414C>T c.(412-414)caC>caT p.H138H KIPAN 7 99516791 99516791 + Silent SNP G G A TCGA-5P-A9K3-01A-11D-A42J-10 TCGA-5P-A9K3-10A-01D-A42M-10 g.chr7:99516791G>A c.234C>T c.(232-234)cgC>cgT p.R78R KIRP 7 99516791 99516791 + Silent SNP G G A TCGA-5P-A9K3-01A-11D-A42J-10 TCGA-5P-A9K3-10A-01D-A42M-10 g.chr7:99516791G>A c.234C>T c.(232-234)cgC>cgT p.R78R LIHC 7 99490170 99490171 + Frame_Shift_Ins INS - - T TCGA-CC-A3M9-01A-11D-A20W-10 TCGA-CC-A3M9-10A-01D-A20W-10 g.chr7:99490170_99490171insT c.1118_1119insA c.(1117-1119)aacfs p.N373fs LIHC 7 99500933 99500933 + Missense_Mutation SNP T T C TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr7:99500933T>C c.827A>G c.(826-828)gAg>gGg p.E276G LIHC 7 99506413 99506413 + Missense_Mutation SNP A A G TCGA-LG-A6GG-01A-11D-A30V-10 TCGA-LG-A6GG-10A-01D-A30V-10 g.chr7:99506413A>G c.590T>C c.(589-591)aTg>aCg p.M197T LUAD 7 99490024 99490024 + Missense_Mutation SNP C C A TCGA-05-4250-01A-01D-1105-08 TCGA-05-4250-10A-01D-1105-08 g.chr7:99490024C>A c.1265G>T c.(1264-1266)aGt>aTt p.S422I LUAD 7 99490035 99490035 + Silent SNP C C A TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chr7:99490035C>A c.1254G>T c.(1252-1254)gcG>gcT p.A418A LUAD 7 99490316 99490316 + Nonsense_Mutation SNP C C A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr7:99490316C>A c.973G>T c.(973-975)Gaa>Taa p.E325* LUAD 7 99506243 99506243 + Missense_Mutation SNP C C A TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chr7:99506243C>A c.760G>T c.(760-762)Ggg>Tgg p.G254W LUSC 7 99489826 99489826 + Nonsense_Mutation SNP A A T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr7:99489826A>T c.1463T>A c.(1462-1464)tTa>tAa p.L488* LUSC 7 99490142 99490142 + Missense_Mutation SNP C C G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 g.chr7:99490142C>G c.1147G>C c.(1147-1149)Gaa>Caa p.E383Q OV 7 99489913 99489913 + Missense_Mutation SNP A A G TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 g.chr7:99489913A>G c.1376T>C c.(1375-1377)tTc>tCc p.F459S PAAD 7 99489912 99489912 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:99489912G>T c.1377C>A c.(1375-1377)ttC>ttA p.F459L PRAD 7 99506411 99506411 + Missense_Mutation SNP T T C TCGA-HC-7748-01A-11D-2114-08 TCGA-HC-7748-10A-01D-2115-08 g.chr7:99506411T>C c.592A>G c.(592-594)Aga>Gga p.R198G READ 7 99506410 99506410 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr7:99506410C>A c.593G>T c.(592-594)aGa>aTa p.R198I SARC 7 99490311 99490311 + Silent SNP C C A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 g.chr7:99490311C>A c.978G>T c.(976-978)ggG>ggT p.G326G SKCM 7 99489852 99489852 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr7:99489852G>A c.1437C>T c.(1435-1437)ctC>ctT p.L479L SKCM 7 99489896 99489896 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:99489896C>T c.1393G>A c.(1393-1395)Gga>Aga p.G465R SKCM 7 99489935 99489935 + Missense_Mutation SNP G G A TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr7:99489935G>A c.1354C>T c.(1354-1356)Cgt>Tgt p.R452C SKCM 7 99490094 99490094 + Missense_Mutation SNP C C G TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr7:99490094C>G c.1195G>C c.(1195-1197)Gag>Cag p.E399Q SKCM 7 99490188 99490188 + Silent SNP G G A TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 g.chr7:99490188G>A c.1101C>T c.(1099-1101)ccC>ccT p.P367P SKCM 7 99506319 99506319 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:99506319C>T c.684G>A c.(682-684)acG>acA p.T228T SKCM 7 99506320 99506320 + Missense_Mutation SNP G G C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr7:99506320G>C c.683C>G c.(682-684)aCg>aGg p.T228R SKCM 7 99506323 99506325 + In_Frame_Del DEL TCT TCT - TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr7:99506323_99506325delTCT c.678_680delAGA c.(676-681)gaagag>gag p.226_227EE>E

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 7 99473945 99473945 single base substitution C G downstream_gene_variant BRCA-EU 7 99469737 99469737 single base substitution G A downstream_gene_variant BRCA-EU 7 99474579 99474579 single base substitution G T downstream_gene_variant BRCA-EU 7 99474890 99474890 single base substitution T G intron_variant BRCA-EU 7 99475115 99475115 single base substitution G C intron_variant BRCA-EU 7 99477366 99477366 single base substitution C A intron_variant BRCA-EU 7 99481019 99481019 single base substitution C T intron_variant BRCA-EU 7 99481020 99481020 single base substitution G C intron_variant BRCA-EU 7 99482556 99482556 deletion of <=200bp A - intron_variant BRCA-EU 7 99483122 99483122 single base substitution C T downstream_gene_variant BRCA-EU 7 99483122 99483122 single base substitution C T intron_variant BRCA-EU 7 99484583 99484583 single base substitution A C downstream_gene_variant BRCA-EU 7 99484583 99484583 single base substitution A C intron_variant BRCA-EU 7 99484691 99484691 single base substitution T C downstream_gene_variant BRCA-EU 7 99484691 99484691 single base substitution T C intron_variant BRCA-EU 7 99485716 99485716 single base substitution A G downstream_gene_variant BRCA-EU 7 99485716 99485716 single base substitution A G intron_variant BRCA-EU 7 99487181 99487181 single base substitution G A downstream_gene_variant BRCA-EU 7 99487181 99487181 single base substitution G A intron_variant BRCA-EU 7 99488177 99488177 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 99488177 99488177 single base substitution G A intron_variant BRCA-EU 7 99488511 99488511 single base substitution A T 3_prime_UTR_variant BRCA-EU 7 99488511 99488511 single base substitution A T intron_variant BRCA-EU 7 99488584 99488584 single base substitution A G 3_prime_UTR_variant BRCA-EU 7 99488584 99488584 single base substitution A G intron_variant BRCA-EU 7 99488925 99488925 single base substitution T C 3_prime_UTR_variant BRCA-EU 7 99488925 99488925 single base substitution T C intron_variant BRCA-EU 7 99489282 99489282 single base substitution A C 3_prime_UTR_variant BRCA-EU 7 99489282 99489282 single base substitution A C intron_variant BRCA-EU 7 99489778 99489778 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 99489778 99489778 single base substitution G A intron_variant BRCA-EU 7 99490294 99490294 single base substitution G T intron_variant BRCA-EU 7 99490294 99490294 single base substitution G T missense_variant T306K 917C>A BRCA-EU 7 99490294 99490294 single base substitution G T missense_variant T332K 995C>A BRCA-EU 7 99492904 99492904 single base substitution T A intron_variant BRCA-EU 7 99493487 99493487 single base substitution A G intron_variant BRCA-EU 7 99493793 99493793 single base substitution T C downstream_gene_variant BRCA-EU 7 99493793 99493793 single base substitution T C intron_variant BRCA-EU 7 99494187 99494187 single base substitution G A downstream_gene_variant BRCA-EU 7 99494187 99494187 single base substitution G A intron_variant BRCA-EU 7 99494680 99494680 single base substitution T C downstream_gene_variant BRCA-EU 7 99494680 99494680 single base substitution T C intron_variant BRCA-EU 7 99495196 99495196 insertion of <=200bp - A downstream_gene_variant BRCA-EU 7 99495196 99495196 insertion of <=200bp - A intron_variant BRCA-EU 7 99495720 99495720 single base substitution A G downstream_gene_variant BRCA-EU 7 99495720 99495720 single base substitution A G intron_variant BRCA-EU 7 99495756 99495756 single base substitution G T downstream_gene_variant BRCA-EU 7 99495756 99495756 single base substitution G T intron_variant BRCA-EU 7 99496424 99496424 single base substitution G T downstream_gene_variant BRCA-EU 7 99496424 99496424 single base substitution G T intron_variant BRCA-EU 7 99496588 99496588 single base substitution C G downstream_gene_variant BRCA-EU 7 99496588 99496588 single base substitution C G intron_variant BRCA-EU 7 99497220 99497220 single base substitution C G downstream_gene_variant BRCA-EU 7 99497220 99497220 single base substitution C G intron_variant BRCA-EU 7 99497887 99497887 single base substitution C T downstream_gene_variant BRCA-EU 7 99497887 99497887 single base substitution C T intron_variant BRCA-EU 7 99498017 99498017 insertion of <=200bp - A downstream_gene_variant BRCA-EU 7 99498017 99498017 insertion of <=200bp - A intron_variant BRCA-EU 7 99499729 99499729 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 99499729 99499729 single base substitution G C intron_variant BRCA-EU 7 99503022 99503022 single base substitution C T downstream_gene_variant BRCA-EU 7 99503022 99503022 single base substitution C T intron_variant BRCA-EU 7 99503223 99503223 single base substitution A G downstream_gene_variant BRCA-EU 7 99503223 99503223 single base substitution A G intron_variant BRCA-EU 7 99504921 99504921 single base substitution C T downstream_gene_variant BRCA-EU 7 99504921 99504921 single base substitution C T intron_variant BRCA-EU 7 99505044 99505044 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 99505044 99505044 deletion of <=200bp T - intron_variant BRCA-EU 7 99505534 99505534 single base substitution T C downstream_gene_variant BRCA-EU 7 99505534 99505534 single base substitution T C intron_variant BRCA-EU 7 99506357 99506357 single base substitution G T exon_variant BRCA-EU 7 99506357 99506357 single base substitution G T missense_variant L190M 568C>A BRCA-EU 7 99506357 99506357 single base substitution G T missense_variant L216M 646C>A BRCA-EU 7 99506357 99506357 single base substitution G T missense_variant L91M 271C>A BRCA-EU 7 99507536 99507536 single base substitution G A intron_variant BRCA-EU 7 99507536 99507536 single base substitution G A upstream_gene_variant BRCA-EU 7 99507737 99507737 single base substitution T C intron_variant BRCA-EU 7 99507737 99507737 single base substitution T C upstream_gene_variant BRCA-EU 7 99509037 99509037 single base substitution G T intron_variant BRCA-EU 7 99509037 99509037 single base substitution G T upstream_gene_variant BRCA-EU 7 99511066 99511066 single base substitution C T intron_variant BRCA-EU 7 99511066 99511066 single base substitution C T upstream_gene_variant BRCA-EU 7 99511326 99511326 single base substitution T G intron_variant BRCA-EU 7 99511326 99511326 single base substitution T G upstream_gene_variant BRCA-EU 7 99511565 99511565 single base substitution T G intron_variant BRCA-EU 7 99511565 99511565 single base substitution T G upstream_gene_variant BRCA-EU 7 99512834 99512834 single base substitution G A intron_variant BRCA-EU 7 99512841 99512841 single base substitution G A intron_variant BRCA-EU 7 99514403 99514403 single base substitution C G intron_variant BRCA-EU 7 99514403 99514403 single base substitution C G splice_acceptor_variant BRCA-EU 7 99515806 99515806 single base substitution A C intron_variant BRCA-EU 7 99516048 99516048 single base substitution T A intron_variant BRCA-EU 7 99516114 99516114 single base substitution G A intron_variant BRCA-EU 7 99516643 99516643 single base substitution C T missense_variant E128K 382G>A BRCA-EU 7 99516643 99516643 single base substitution C T missense_variant E29K 85G>A BRCA-EU 7 99517116 99517116 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 7 99517116 99517116 single base substitution G A 5_prime_UTR_variant BRCA-EU 7 99517116 99517116 single base substitution G A upstream_gene_variant BRCA-EU 7 99517938 99517938 single base substitution G A upstream_gene_variant BRCA-EU 7 99519842 99519842 single base substitution G C upstream_gene_variant BRCA-EU 7 99520294 99520294 single base substitution C G upstream_gene_variant BRCA-EU 7 99521671 99521671 single base substitution A G upstream_gene_variant BRCA-FR 7 99469960 99469960 single base substitution C T downstream_gene_variant BRCA-FR 7 99471729 99471729 single base substitution C T downstream_gene_variant BRCA-FR 7 99481020 99481020 single base substitution G C intron_variant BRCA-FR 7 99488177 99488177 single base substitution G A 3_prime_UTR_variant BRCA-FR 7 99488177 99488177 single base substitution G A intron_variant BRCA-FR 7 99516005 99516005 single base substitution G C intron_variant BRCA-FR 7 99516114 99516114 single base substitution G A intron_variant BRCA-UK 7 99490246 99490246 single base substitution A T intron_variant BRCA-UK 7 99490246 99490246 single base substitution A T missense_variant F322Y 965T>A BRCA-UK 7 99490246 99490246 single base substitution A T missense_variant F348Y 1043T>A BRCA-UK 7 99506357 99506357 single base substitution G T exon_variant BRCA-UK 7 99506357 99506357 single base substitution G T missense_variant L190M 568C>A BRCA-UK 7 99506357 99506357 single base substitution G T missense_variant L216M 646C>A BRCA-UK 7 99506357 99506357 single base substitution G T missense_variant L91M 271C>A BRCA-UK 7 99507737 99507737 single base substitution T C intron_variant BRCA-UK 7 99507737 99507737 single base substitution T C upstream_gene_variant BRCA-UK 7 99516011 99516011 single base substitution G A intron_variant BRCA-UK 7 99519842 99519842 single base substitution G C upstream_gene_variant BRCA-US 7 99474106 99474106 single base substitution A C downstream_gene_variant BRCA-US 7 99489881 99489881 single base substitution T G intron_variant BRCA-US 7 99489881 99489881 single base substitution T G missense_variant T444P 1330A>C BRCA-US 7 99489881 99489881 single base substitution T G missense_variant T470P 1408A>C BRCA-US 7 99489980 99489980 single base substitution T G intron_variant BRCA-US 7 99489980 99489980 single base substitution T G missense_variant T411P 1231A>C BRCA-US 7 99489980 99489980 single base substitution T G missense_variant T437P 1309A>C BRCA-US 7 99490037 99490037 single base substitution C A intron_variant BRCA-US 7 99490037 99490037 single base substitution C A missense_variant A392S 1174G>T BRCA-US 7 99490037 99490037 single base substitution C A missense_variant A418S 1252G>T BRCA-US 7 99490102 99490102 single base substitution A C intron_variant BRCA-US 7 99490102 99490102 single base substitution A C missense_variant V370G 1109T>G BRCA-US 7 99490102 99490102 single base substitution A C missense_variant V396G 1187T>G BRCA-US 7 99506245 99506245 single base substitution A C exon_variant BRCA-US 7 99506245 99506245 single base substitution A C missense_variant V128G 383T>G BRCA-US 7 99506245 99506245 single base substitution A C missense_variant V227G 680T>G BRCA-US 7 99506245 99506245 single base substitution A C missense_variant V253G 758T>G BRCA-US 7 99516656 99516656 single base substitution G C missense_variant I123M 369C>G BRCA-US 7 99516656 99516656 single base substitution G C missense_variant I24M 72C>G BRCA-US 7 99517012 99517012 deletion of <=200bp C - frameshift_variant D5 BRCA-US 7 99517012 99517012 deletion of <=200bp C - upstream_gene_variant BTCA-JP 7 99473814 99473814 single base substitution C T downstream_gene_variant BTCA-JP 7 99489905 99489905 single base substitution C T intron_variant BTCA-JP 7 99489905 99489905 single base substitution C T missense_variant A436T 1306G>A BTCA-JP 7 99489905 99489905 single base substitution C T missense_variant A462T 1384G>A BTCA-JP 7 99500911 99500911 single base substitution A G downstream_gene_variant BTCA-JP 7 99500911 99500911 single base substitution A G synonymous_variant S158S 474T>C BTCA-JP 7 99500911 99500911 single base substitution A G synonymous_variant S257S 771T>C BTCA-JP 7 99500911 99500911 single base substitution A G synonymous_variant S283S 849T>C BTCA-JP 7 99501313 99501313 single base substitution A T downstream_gene_variant BTCA-JP 7 99501313 99501313 single base substitution A T intron_variant CESC-US 7 99474453 99474453 single base substitution G C downstream_gene_variant CESC-US 7 99474518 99474518 single base substitution G C downstream_gene_variant CLLE-ES 7 99517054 99517054 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant CLLE-ES 7 99517054 99517054 single base substitution G A upstream_gene_variant COAD-US 7 99473834 99473834 single base substitution C T downstream_gene_variant COAD-US 7 99474427 99474427 single base substitution A G downstream_gene_variant COAD-US 7 99490069 99490069 single base substitution C T intron_variant COAD-US 7 99490069 99490069 single base substitution C T missense_variant R381H 1142G>A COAD-US 7 99490069 99490069 single base substitution C T missense_variant R407H 1220G>A COAD-US 7 99500890 99500890 single base substitution C T downstream_gene_variant COAD-US 7 99500890 99500890 single base substitution C T synonymous_variant K165K 495G>A COAD-US 7 99500890 99500890 single base substitution C T synonymous_variant K264K 792G>A COAD-US 7 99500890 99500890 single base substitution C T synonymous_variant K290K 870G>A COAD-US 7 99500899 99500899 single base substitution T C downstream_gene_variant COAD-US 7 99500899 99500899 single base substitution T C synonymous_variant V162V 486A>G COAD-US 7 99500899 99500899 single base substitution T C synonymous_variant V261V 783A>G COAD-US 7 99500899 99500899 single base substitution T C synonymous_variant V287V 861A>G COAD-US 7 99500911 99500911 single base substitution A G downstream_gene_variant COAD-US 7 99500911 99500911 single base substitution A G synonymous_variant S158S 474T>C COAD-US 7 99500911 99500911 single base substitution A G synonymous_variant S257S 771T>C COAD-US 7 99500911 99500911 single base substitution A G synonymous_variant S283S 849T>C COAD-US 7 99506340 99506340 single base substitution C A exon_variant COAD-US 7 99506340 99506340 single base substitution C A missense_variant L195F 585G>T COAD-US 7 99506340 99506340 single base substitution C A missense_variant L221F 663G>T COAD-US 7 99506340 99506340 single base substitution C A missense_variant L96F 288G>T COCA-CN 7 99473894 99473894 single base substitution T C downstream_gene_variant COCA-CN 7 99474044 99474044 single base substitution G T downstream_gene_variant COCA-CN 7 99474683 99474683 single base substitution A G intron_variant COCA-CN 7 99474729 99474729 single base substitution T C intron_variant COCA-CN 7 99484706 99484706 single base substitution A G downstream_gene_variant COCA-CN 7 99484706 99484706 single base substitution A G intron_variant COCA-CN 7 99486000 99486000 single base substitution T C downstream_gene_variant COCA-CN 7 99486000 99486000 single base substitution T C intron_variant COCA-CN 7 99486017 99486017 single base substitution C T downstream_gene_variant COCA-CN 7 99486017 99486017 single base substitution C T intron_variant COCA-CN 7 99486165 99486165 single base substitution C T downstream_gene_variant COCA-CN 7 99486165 99486165 single base substitution C T intron_variant COCA-CN 7 99486175 99486175 single base substitution C T downstream_gene_variant COCA-CN 7 99486175 99486175 single base substitution C T intron_variant COCA-CN 7 99486238 99486238 single base substitution T C downstream_gene_variant COCA-CN 7 99486238 99486238 single base substitution T C intron_variant COCA-CN 7 99490117 99490117 single base substitution T A intron_variant COCA-CN 7 99490117 99490117 single base substitution T A missense_variant E365V 1094A>T COCA-CN 7 99490117 99490117 single base substitution T A missense_variant E391V 1172A>T COCA-CN 7 99499747 99499747 single base substitution G A 3_prime_UTR_variant COCA-CN 7 99499747 99499747 single base substitution G A intron_variant COCA-CN 7 99501313 99501313 single base substitution A T downstream_gene_variant COCA-CN 7 99501313 99501313 single base substitution A T intron_variant COCA-CN 7 99505913 99505913 single base substitution C T exon_variant COCA-CN 7 99505913 99505913 single base substitution C T intron_variant COCA-CN 7 99506295 99506295 single base substitution C T exon_variant COCA-CN 7 99506295 99506295 single base substitution C T synonymous_variant T111T 333G>A COCA-CN 7 99506295 99506295 single base substitution C T synonymous_variant T210T 630G>A COCA-CN 7 99506295 99506295 single base substitution C T synonymous_variant T236T 708G>A COCA-CN 7 99506317 99506317 single base substitution T G exon_variant COCA-CN 7 99506317 99506317 single base substitution T G missense_variant K104T 311A>C COCA-CN 7 99506317 99506317 single base substitution T G missense_variant K203T 608A>C COCA-CN 7 99506317 99506317 single base substitution T G missense_variant K229T 686A>C COCA-CN 7 99506782 99506782 single base substitution C T intron_variant COCA-CN 7 99507352 99507352 single base substitution G T intron_variant COCA-CN 7 99507352 99507352 single base substitution G T upstream_gene_variant COCA-CN 7 99507358 99507358 single base substitution T G intron_variant COCA-CN 7 99507358 99507358 single base substitution T G upstream_gene_variant COCA-CN 7 99520555 99520555 single base substitution T C upstream_gene_variant COCA-CN 7 99521250 99521250 single base substitution T G upstream_gene_variant ESAD-UK 7 99470001 99470001 single base substitution G A downstream_gene_variant ESAD-UK 7 99470620 99470620 single base substitution T G downstream_gene_variant ESAD-UK 7 99470928 99470928 single base substitution C T downstream_gene_variant ESAD-UK 7 99473769 99473769 single base substitution T C downstream_gene_variant ESAD-UK 7 99474933 99474933 insertion of <=200bp - AT intron_variant ESAD-UK 7 99476897 99476897 single base substitution A G intron_variant ESAD-UK 7 99477670 99477670 single base substitution G A intron_variant ESAD-UK 7 99481279 99481279 single base substitution C A intron_variant ESAD-UK 7 99482556 99482556 insertion of <=200bp - A intron_variant ESAD-UK 7 99486937 99486937 single base substitution A G downstream_gene_variant ESAD-UK 7 99486937 99486937 single base substitution A G intron_variant ESAD-UK 7 99487800 99487800 single base substitution A G downstream_gene_variant ESAD-UK 7 99487800 99487800 single base substitution A G intron_variant ESAD-UK 7 99489132 99489132 single base substitution G T 3_prime_UTR_variant ESAD-UK 7 99489132 99489132 single base substitution G T intron_variant ESAD-UK 7 99489221 99489221 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 99489221 99489221 single base substitution C T intron_variant ESAD-UK 7 99491496 99491496 single base substitution G A intron_variant ESAD-UK 7 99491514 99491514 single base substitution T A intron_variant ESAD-UK 7 99492297 99492297 single base substitution A C intron_variant ESAD-UK 7 99493693 99493693 single base substitution G C intron_variant ESAD-UK 7 99494171 99494171 single base substitution C A downstream_gene_variant ESAD-UK 7 99494171 99494171 single base substitution C A intron_variant ESAD-UK 7 99494187 99494187 single base substitution G A downstream_gene_variant ESAD-UK 7 99494187 99494187 single base substitution G A intron_variant ESAD-UK 7 99495453 99495453 single base substitution G A downstream_gene_variant ESAD-UK 7 99495453 99495453 single base substitution G A intron_variant ESAD-UK 7 99501408 99501408 single base substitution C T downstream_gene_variant ESAD-UK 7 99501408 99501408 single base substitution C T intron_variant ESAD-UK 7 99506216 99506216 single base substitution C G exon_variant ESAD-UK 7 99506216 99506216 single base substitution C G missense_variant E138Q 412G>C ESAD-UK 7 99506216 99506216 single base substitution C G missense_variant E237Q 709G>C ESAD-UK 7 99506216 99506216 single base substitution C G missense_variant E263Q 787G>C ESAD-UK 7 99507288 99507288 single base substitution C T splice_region_variant ESAD-UK 7 99507288 99507288 single base substitution C T upstream_gene_variant ESAD-UK 7 99511335 99511335 single base substitution T A intron_variant ESAD-UK 7 99511335 99511335 single base substitution T A upstream_gene_variant ESAD-UK 7 99511836 99511836 single base substitution A G intron_variant ESAD-UK 7 99511836 99511836 single base substitution A G upstream_gene_variant ESAD-UK 7 99512518 99512518 single base substitution C T intron_variant ESAD-UK 7 99514745 99514745 single base substitution C T intron_variant ESAD-UK 7 99521509 99521509 single base substitution G T upstream_gene_variant ESAD-UK 7 99522001 99522001 single base substitution A G upstream_gene_variant ESCA-CN 7 99474677 99474677 single base substitution G C intron_variant ESCA-CN 7 99490127 99490127 single base substitution C G intron_variant ESCA-CN 7 99490127 99490127 single base substitution C G missense_variant D362H 1084G>C ESCA-CN 7 99490127 99490127 single base substitution C G missense_variant D388H 1162G>C ESCA-CN 7 99507352 99507352 single base substitution G T intron_variant ESCA-CN 7 99507352 99507352 single base substitution G T upstream_gene_variant GBM-US 7 99474406 99474406 single base substitution T C downstream_gene_variant GBM-US 7 99507253 99507253 single base substitution C T missense_variant V142M 424G>A GBM-US 7 99507253 99507253 single base substitution C T missense_variant V168M 502G>A GBM-US 7 99507253 99507253 single base substitution C T missense_variant V43M 127G>A GBM-US 7 99507253 99507253 single base substitution C T upstream_gene_variant GBM-US 7 99516656 99516656 single base substitution G A synonymous_variant I123I 369C>T GBM-US 7 99516656 99516656 single base substitution G A synonymous_variant I24I 72C>T GBM-US 7 99516919 99516919 single base substitution G T missense_variant L36M 106C>A GBM-US 7 99516919 99516919 single base substitution G T upstream_gene_variant GBM-US 7 99521178 99521178 single base substitution C G upstream_gene_variant KIRC-US 7 99474477 99474477 single base substitution A G downstream_gene_variant KIRP-US 7 99474253 99474253 single base substitution A G downstream_gene_variant LAML-KR 7 99476174 99476174 single base substitution T A intron_variant LAML-KR 7 99485816 99485816 single base substitution C T downstream_gene_variant LAML-KR 7 99485816 99485816 single base substitution C T intron_variant LICA-CN 7 99500884 99500884 single base substitution C A downstream_gene_variant LICA-CN 7 99500884 99500884 single base substitution C A synonymous_variant V167V 501G>T LICA-CN 7 99500884 99500884 single base substitution C A synonymous_variant V266V 798G>T LICA-CN 7 99500884 99500884 single base substitution C A synonymous_variant V292V 876G>T LICA-FR 7 99486947 99486947 single base substitution C G downstream_gene_variant LICA-FR 7 99486947 99486947 single base substitution C G intron_variant LICA-FR 7 99506231 99506231 single base substitution G A exon_variant LICA-FR 7 99506231 99506231 single base substitution G A stop_gained Q133* 397C>T LICA-FR 7 99506231 99506231 single base substitution G A stop_gained Q232* 694C>T LICA-FR 7 99506231 99506231 single base substitution G A stop_gained Q258* 772C>T LICA-FR 7 99516749 99516749 single base substitution C T synonymous_variant E92E 276G>A LICA-FR 7 99516749 99516749 single base substitution C T upstream_gene_variant LIHC-US 7 99474046 99474046 single base substitution A G downstream_gene_variant LIHC-US 7 99490170 99490170 insertion of <=200bp - T frameshift_variant N347N? LIHC-US 7 99490170 99490170 insertion of <=200bp - T frameshift_variant N373N? LIHC-US 7 99490170 99490170 insertion of <=200bp - T intron_variant LIHC-US 7 99506413 99506413 single base substitution A G exon_variant LIHC-US 7 99506413 99506413 single base substitution A G missense_variant M171T 512T>C LIHC-US 7 99506413 99506413 single base substitution A G missense_variant M197T 590T>C LIHC-US 7 99506413 99506413 single base substitution A G missense_variant M72T 215T>C LINC-JP 7 99474362 99474362 single base substitution T C downstream_gene_variant LINC-JP 7 99475052 99475052 single base substitution A T intron_variant LINC-JP 7 99476187 99476187 single base substitution G A intron_variant LINC-JP 7 99487746 99487746 single base substitution T C downstream_gene_variant LINC-JP 7 99487746 99487746 single base substitution T C intron_variant LINC-JP 7 99489906 99489906 single base substitution G A intron_variant LINC-JP 7 99489906 99489906 single base substitution G A synonymous_variant S435S 1305C>T LINC-JP 7 99489906 99489906 single base substitution G A synonymous_variant S461S 1383C>T LINC-JP 7 99501259 99501262 deletion of <=200bp TTCT - downstream_gene_variant LINC-JP 7 99501259 99501262 deletion of <=200bp TTCT - intron_variant LINC-JP 7 99502491 99502491 single base substitution C T downstream_gene_variant LINC-JP 7 99502491 99502491 single base substitution C T intron_variant LINC-JP 7 99504396 99504396 single base substitution C A downstream_gene_variant LINC-JP 7 99504396 99504396 single base substitution C A intron_variant LINC-JP 7 99507352 99507352 single base substitution G T intron_variant LINC-JP 7 99507352 99507352 single base substitution G T upstream_gene_variant LINC-JP 7 99512280 99512280 single base substitution C T intron_variant LINC-JP 7 99512525 99512525 single base substitution C T intron_variant LIRI-JP 7 99471075 99471075 single base substitution C A downstream_gene_variant LIRI-JP 7 99471895 99471895 single base substitution T C downstream_gene_variant LIRI-JP 7 99471916 99471916 single base substitution T G downstream_gene_variant LIRI-JP 7 99472740 99472740 single base substitution G A downstream_gene_variant LIRI-JP 7 99474715 99474715 single base substitution A T intron_variant LIRI-JP 7 99475909 99475909 single base substitution G A intron_variant LIRI-JP 7 99480524 99480524 single base substitution T C intron_variant LIRI-JP 7 99480974 99480974 single base substitution C T intron_variant LIRI-JP 7 99482341 99482341 single base substitution A T intron_variant LIRI-JP 7 99483435 99483435 single base substitution T C downstream_gene_variant LIRI-JP 7 99483435 99483435 single base substitution T C intron_variant LIRI-JP 7 99489017 99489017 single base substitution C T 3_prime_UTR_variant LIRI-JP 7 99489017 99489017 single base substitution C T intron_variant LIRI-JP 7 99492203 99492203 single base substitution T C intron_variant LIRI-JP 7 99492754 99492754 single base substitution C T intron_variant LIRI-JP 7 99494010 99494010 single base substitution G A downstream_gene_variant LIRI-JP 7 99494010 99494010 single base substitution G A intron_variant LIRI-JP 7 99494077 99494077 single base substitution T C downstream_gene_variant LIRI-JP 7 99494077 99494077 single base substitution T C intron_variant LIRI-JP 7 99494547 99494547 single base substitution A C downstream_gene_variant LIRI-JP 7 99494547 99494547 single base substitution A C intron_variant LIRI-JP 7 99494609 99494609 single base substitution T C downstream_gene_variant LIRI-JP 7 99494609 99494609 single base substitution T C intron_variant LIRI-JP 7 99495186 99495186 single base substitution T C downstream_gene_variant LIRI-JP 7 99495186 99495186 single base substitution T C intron_variant LIRI-JP 7 99496420 99496420 single base substitution T C downstream_gene_variant LIRI-JP 7 99496420 99496420 single base substitution T C intron_variant LIRI-JP 7 99497804 99497804 single base substitution T C downstream_gene_variant LIRI-JP 7 99497804 99497804 single base substitution T C intron_variant LIRI-JP 7 99500661 99500661 single base substitution C T intron_variant LIRI-JP 7 99501340 99501340 single base substitution G T downstream_gene_variant LIRI-JP 7 99501340 99501340 single base substitution G T intron_variant LIRI-JP 7 99501341 99501341 single base substitution C T downstream_gene_variant LIRI-JP 7 99501341 99501341 single base substitution C T intron_variant LIRI-JP 7 99503431 99503431 single base substitution C T downstream_gene_variant LIRI-JP 7 99503431 99503431 single base substitution C T intron_variant LIRI-JP 7 99505085 99505085 single base substitution T G downstream_gene_variant LIRI-JP 7 99505085 99505085 single base substitution T G intron_variant LIRI-JP 7 99506175 99506175 single base substitution T G exon_variant LIRI-JP 7 99506175 99506175 single base substitution T G intron_variant LIRI-JP 7 99507697 99507697 single base substitution G T intron_variant LIRI-JP 7 99507697 99507697 single base substitution G T upstream_gene_variant LIRI-JP 7 99507901 99507901 single base substitution C T intron_variant LIRI-JP 7 99507901 99507901 single base substitution C T upstream_gene_variant LIRI-JP 7 99508292 99508292 single base substitution T C intron_variant LIRI-JP 7 99508292 99508292 single base substitution T C upstream_gene_variant LIRI-JP 7 99510081 99510081 single base substitution A G intron_variant LIRI-JP 7 99510081 99510081 single base substitution A G upstream_gene_variant LIRI-JP 7 99510447 99510447 single base substitution T A intron_variant LIRI-JP 7 99510447 99510447 single base substitution T A upstream_gene_variant LIRI-JP 7 99510904 99510904 insertion of <=200bp - CT intron_variant LIRI-JP 7 99510904 99510904 insertion of <=200bp - CT upstream_gene_variant LIRI-JP 7 99510936 99510936 single base substitution G C intron_variant LIRI-JP 7 99510936 99510936 single base substitution G C upstream_gene_variant LIRI-JP 7 99517938 99517938 single base substitution G A upstream_gene_variant LIRI-JP 7 99519031 99519031 single base substitution C T upstream_gene_variant LIRI-JP 7 99520113 99520113 single base substitution A G upstream_gene_variant LUSC-KR 7 99485588 99485588 single base substitution C G downstream_gene_variant LUSC-KR 7 99485588 99485588 single base substitution C G intron_variant LUSC-KR 7 99485811 99485811 single base substitution T C downstream_gene_variant LUSC-KR 7 99485811 99485811 single base substitution T C intron_variant LUSC-KR 7 99485816 99485816 single base substitution C T downstream_gene_variant LUSC-KR 7 99485816 99485816 single base substitution C T intron_variant LUSC-KR 7 99485933 99485933 single base substitution C A downstream_gene_variant LUSC-KR 7 99485933 99485933 single base substitution C A intron_variant LUSC-KR 7 99485951 99485951 single base substitution C T downstream_gene_variant LUSC-KR 7 99485951 99485951 single base substitution C T intron_variant LUSC-KR 7 99486659 99486659 single base substitution G A downstream_gene_variant LUSC-KR 7 99486659 99486659 single base substitution G A intron_variant LUSC-KR 7 99486886 99486886 single base substitution C G downstream_gene_variant LUSC-KR 7 99486886 99486886 single base substitution C G intron_variant LUSC-KR 7 99488515 99488515 single base substitution T A 3_prime_UTR_variant LUSC-KR 7 99488515 99488515 single base substitution T A intron_variant LUSC-KR 7 99497434 99497434 single base substitution G C downstream_gene_variant LUSC-KR 7 99497434 99497434 single base substitution G C intron_variant LUSC-KR 7 99497577 99497577 single base substitution T C downstream_gene_variant LUSC-KR 7 99497577 99497577 single base substitution T C intron_variant LUSC-KR 7 99507352 99507352 single base substitution G T intron_variant LUSC-KR 7 99507352 99507352 single base substitution G T upstream_gene_variant LUSC-KR 7 99509855 99509855 single base substitution C A intron_variant LUSC-KR 7 99509855 99509855 single base substitution C A upstream_gene_variant LUSC-US 7 99489826 99489826 single base substitution A T intron_variant LUSC-US 7 99489826 99489826 single base substitution A T stop_gained L462* 1385T>A LUSC-US 7 99489826 99489826 single base substitution A T stop_gained L488* 1463T>A LUSC-US 7 99490142 99490142 single base substitution C G intron_variant LUSC-US 7 99490142 99490142 single base substitution C G missense_variant E357Q 1069G>C LUSC-US 7 99490142 99490142 single base substitution C G missense_variant E383Q 1147G>C MALY-DE 7 99472237 99472237 single base substitution A C downstream_gene_variant MALY-DE 7 99474940 99474941 deletion of <=200bp TG - intron_variant MALY-DE 7 99478416 99478416 single base substitution A C intron_variant MALY-DE 7 99485565 99485565 deletion of <=200bp A - downstream_gene_variant MALY-DE 7 99485565 99485565 deletion of <=200bp A - intron_variant MALY-DE 7 99489305 99489305 single base substitution G A 3_prime_UTR_variant MALY-DE 7 99489305 99489305 single base substitution G A intron_variant MALY-DE 7 99492303 99492307 deletion of <=200bp AAAAG - intron_variant MALY-DE 7 99498622 99498622 single base substitution G C downstream_gene_variant MALY-DE 7 99498622 99498622 single base substitution G C intron_variant MALY-DE 7 99499554 99499554 single base substitution T A 3_prime_UTR_variant MALY-DE 7 99499554 99499554 single base substitution T A intron_variant MALY-DE 7 99501962 99501962 single base substitution T C downstream_gene_variant MALY-DE 7 99501962 99501962 single base substitution T C intron_variant MALY-DE 7 99514482 99514482 single base substitution A T intron_variant MALY-DE 7 99515809 99515809 single base substitution A G intron_variant MALY-DE 7 99519059 99519059 single base substitution G A upstream_gene_variant MALY-DE 7 99519933 99519934 deletion of <=200bp AC - upstream_gene_variant MELA-AU 7 99469887 99469887 single base substitution A G downstream_gene_variant MELA-AU 7 99469888 99469888 single base substitution G T downstream_gene_variant MELA-AU 7 99470404 99470404 single base substitution G A downstream_gene_variant MELA-AU 7 99470474 99470474 single base substitution G A downstream_gene_variant MELA-AU 7 99470583 99470583 single base substitution G A downstream_gene_variant MELA-AU 7 99470921 99470921 single base substitution C T downstream_gene_variant MELA-AU 7 99471367 99471367 single base substitution C T downstream_gene_variant MELA-AU 7 99472104 99472104 single base substitution G T downstream_gene_variant MELA-AU 7 99472797 99472797 single base substitution G A downstream_gene_variant MELA-AU 7 99473224 99473224 single base substitution C T downstream_gene_variant MELA-AU 7 99473931 99473931 single base substitution G A downstream_gene_variant MELA-AU 7 99474033 99474033 single base substitution G A downstream_gene_variant MELA-AU 7 99476960 99476960 single base substitution C T intron_variant MELA-AU 7 99477163 99477163 single base substitution C T intron_variant MELA-AU 7 99477190 99477190 single base substitution G T intron_variant MELA-AU 7 99477578 99477578 single base substitution G A intron_variant MELA-AU 7 99478153 99478153 single base substitution T A intron_variant MELA-AU 7 99478294 99478294 single base substitution G A intron_variant MELA-AU 7 99478349 99478349 single base substitution C T intron_variant MELA-AU 7 99478418 99478418 single base substitution C T intron_variant MELA-AU 7 99478422 99478422 single base substitution G A intron_variant MELA-AU 7 99479593 99479593 single base substitution G A intron_variant MELA-AU 7 99479928 99479928 single base substitution G A intron_variant MELA-AU 7 99479967 99479967 single base substitution G A intron_variant MELA-AU 7 99480335 99480335 single base substitution T A intron_variant MELA-AU 7 99480754 99480754 single base substitution C T intron_variant MELA-AU 7 99481308 99481308 single base substitution G A intron_variant MELA-AU 7 99481502 99481502 single base substitution G A intron_variant MELA-AU 7 99481555 99481555 single base substitution T A intron_variant MELA-AU 7 99482298 99482298 single base substitution G A intron_variant MELA-AU 7 99482379 99482379 single base substitution G A intron_variant MELA-AU 7 99482693 99482693 single base substitution A C intron_variant MELA-AU 7 99482755 99482755 single base substitution G A intron_variant MELA-AU 7 99482775 99482775 single base substitution G A intron_variant MELA-AU 7 99482837 99482837 single base substitution G A intron_variant MELA-AU 7 99482921 99482921 single base substitution A G intron_variant MELA-AU 7 99482957 99482957 single base substitution G A intron_variant MELA-AU 7 99482965 99482965 single base substitution C A intron_variant MELA-AU 7 99483170 99483170 single base substitution G A downstream_gene_variant MELA-AU 7 99483170 99483170 single base substitution G A intron_variant MELA-AU 7 99483543 99483543 single base substitution G A downstream_gene_variant MELA-AU 7 99483543 99483543 single base substitution G A intron_variant MELA-AU 7 99483626 99483626 single base substitution G A downstream_gene_variant MELA-AU 7 99483626 99483626 single base substitution G A intron_variant MELA-AU 7 99483880 99483880 single base substitution G A downstream_gene_variant MELA-AU 7 99483880 99483880 single base substitution G A intron_variant MELA-AU 7 99484523 99484523 single base substitution G A downstream_gene_variant MELA-AU 7 99484523 99484523 single base substitution G A intron_variant MELA-AU 7 99484784 99484785 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 99484784 99484785 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 99485400 99485400 single base substitution C T downstream_gene_variant MELA-AU 7 99485400 99485400 single base substitution C T intron_variant MELA-AU 7 99485584 99485585 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 99485584 99485585 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 99486097 99486097 single base substitution G A downstream_gene_variant MELA-AU 7 99486097 99486097 single base substitution G A intron_variant MELA-AU 7 99486889 99486889 single base substitution G A downstream_gene_variant MELA-AU 7 99486889 99486889 single base substitution G A intron_variant MELA-AU 7 99486896 99486896 single base substitution G A downstream_gene_variant MELA-AU 7 99486896 99486896 single base substitution G A intron_variant MELA-AU 7 99486918 99486918 single base substitution T C downstream_gene_variant MELA-AU 7 99486918 99486918 single base substitution T C intron_variant MELA-AU 7 99487103 99487103 single base substitution G A downstream_gene_variant MELA-AU 7 99487103 99487103 single base substitution G A intron_variant MELA-AU 7 99487281 99487281 single base substitution G A downstream_gene_variant MELA-AU 7 99487281 99487281 single base substitution G A intron_variant MELA-AU 7 99487824 99487824 single base substitution A G downstream_gene_variant MELA-AU 7 99487824 99487824 single base substitution A G intron_variant MELA-AU 7 99488082 99488082 single base substitution G A 3_prime_UTR_variant MELA-AU 7 99488082 99488082 single base substitution G A intron_variant MELA-AU 7 99489033 99489033 single base substitution G A 3_prime_UTR_variant MELA-AU 7 99489033 99489033 single base substitution G A intron_variant MELA-AU 7 99489670 99489670 single base substitution G A 3_prime_UTR_variant MELA-AU 7 99489670 99489670 single base substitution G A intron_variant MELA-AU 7 99489829 99489829 single base substitution G A intron_variant MELA-AU 7 99489829 99489829 single base substitution G A missense_variant P461L 1382C>T MELA-AU 7 99489829 99489829 single base substitution G A missense_variant P487L 1460C>T MELA-AU 7 99489830 99489830 single base substitution G A intron_variant MELA-AU 7 99489830 99489830 single base substitution G A missense_variant P461S 1381C>T MELA-AU 7 99489830 99489830 single base substitution G A missense_variant P487S 1459C>T MELA-AU 7 99490819 99490819 single base substitution G A intron_variant MELA-AU 7 99491110 99491110 single base substitution G A intron_variant MELA-AU 7 99492347 99492347 single base substitution G A intron_variant MELA-AU 7 99492633 99492633 single base substitution G A intron_variant MELA-AU 7 99492750 99492750 single base substitution T A intron_variant MELA-AU 7 99493588 99493588 single base substitution A G intron_variant MELA-AU 7 99493632 99493632 single base substitution A G intron_variant MELA-AU 7 99493957 99493957 single base substitution G A downstream_gene_variant MELA-AU 7 99493957 99493957 single base substitution G A intron_variant MELA-AU 7 99494011 99494011 single base substitution G A downstream_gene_variant MELA-AU 7 99494011 99494011 single base substitution G A intron_variant MELA-AU 7 99494067 99494067 single base substitution G A downstream_gene_variant MELA-AU 7 99494067 99494067 single base substitution G A intron_variant MELA-AU 7 99494195 99494195 single base substitution G A downstream_gene_variant MELA-AU 7 99494195 99494195 single base substitution G A intron_variant MELA-AU 7 99494411 99494411 single base substitution G A downstream_gene_variant MELA-AU 7 99494411 99494411 single base substitution G A intron_variant MELA-AU 7 99494661 99494661 single base substitution G A downstream_gene_variant MELA-AU 7 99494661 99494661 single base substitution G A intron_variant MELA-AU 7 99494790 99494790 single base substitution G A downstream_gene_variant MELA-AU 7 99494790 99494790 single base substitution G A intron_variant MELA-AU 7 99495018 99495018 single base substitution G A downstream_gene_variant MELA-AU 7 99495018 99495018 single base substitution G A intron_variant MELA-AU 7 99496377 99496401 deletion of <=200bp AACTGCTGCCCTGGGTGGAAGCTGC - downstream_gene_variant MELA-AU 7 99496377 99496401 deletion of <=200bp AACTGCTGCCCTGGGTGGAAGCTGC - intron_variant MELA-AU 7 99497330 99497330 single base substitution G A downstream_gene_variant MELA-AU 7 99497330 99497330 single base substitution G A intron_variant MELA-AU 7 99497670 99497670 single base substitution A C downstream_gene_variant MELA-AU 7 99497670 99497670 single base substitution A C intron_variant MELA-AU 7 99497672 99497672 single base substitution G A downstream_gene_variant MELA-AU 7 99497672 99497672 single base substitution G A intron_variant MELA-AU 7 99497865 99497865 single base substitution C T downstream_gene_variant MELA-AU 7 99497865 99497865 single base substitution C T intron_variant MELA-AU 7 99498235 99498235 single base substitution G A downstream_gene_variant MELA-AU 7 99498235 99498235 single base substitution G A intron_variant MELA-AU 7 99498944 99498944 single base substitution C T 3_prime_UTR_variant MELA-AU 7 99498944 99498944 single base substitution C T intron_variant MELA-AU 7 99500090 99500090 single base substitution G A intron_variant MELA-AU 7 99501332 99501332 single base substitution G A downstream_gene_variant MELA-AU 7 99501332 99501332 single base substitution G A intron_variant MELA-AU 7 99501471 99501471 single base substitution C T downstream_gene_variant MELA-AU 7 99501471 99501471 single base substitution C T intron_variant MELA-AU 7 99501945 99501945 single base substitution G A downstream_gene_variant MELA-AU 7 99501945 99501945 single base substitution G A intron_variant MELA-AU 7 99502609 99502609 single base substitution G A downstream_gene_variant MELA-AU 7 99502609 99502609 single base substitution G A intron_variant MELA-AU 7 99502939 99502939 single base substitution A C downstream_gene_variant MELA-AU 7 99502939 99502939 single base substitution A C intron_variant MELA-AU 7 99503032 99503032 single base substitution G A downstream_gene_variant MELA-AU 7 99503032 99503032 single base substitution G A intron_variant MELA-AU 7 99503267 99503267 single base substitution G A downstream_gene_variant MELA-AU 7 99503267 99503267 single base substitution G A intron_variant MELA-AU 7 99503344 99503344 single base substitution C T downstream_gene_variant MELA-AU 7 99503344 99503344 single base substitution C T intron_variant MELA-AU 7 99503395 99503395 single base substitution G A downstream_gene_variant MELA-AU 7 99503395 99503395 single base substitution G A intron_variant MELA-AU 7 99503613 99503613 single base substitution G A downstream_gene_variant MELA-AU 7 99503613 99503613 single base substitution G A intron_variant MELA-AU 7 99503695 99503695 single base substitution G C downstream_gene_variant MELA-AU 7 99503695 99503695 single base substitution G C intron_variant MELA-AU 7 99503802 99503802 single base substitution A G downstream_gene_variant MELA-AU 7 99503802 99503802 single base substitution A G intron_variant MELA-AU 7 99504286 99504286 single base substitution G T downstream_gene_variant MELA-AU 7 99504286 99504286 single base substitution G T intron_variant MELA-AU 7 99504351 99504352 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 99504351 99504352 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 99505515 99505515 single base substitution G A downstream_gene_variant MELA-AU 7 99505515 99505515 single base substitution G A intron_variant MELA-AU 7 99505600 99505600 single base substitution G A downstream_gene_variant MELA-AU 7 99505600 99505600 single base substitution G A intron_variant MELA-AU 7 99505645 99505645 single base substitution G A downstream_gene_variant MELA-AU 7 99505645 99505645 single base substitution G A intron_variant MELA-AU 7 99505767 99505767 single base substitution G A downstream_gene_variant MELA-AU 7 99505767 99505767 single base substitution G A intron_variant MELA-AU 7 99507052 99507052 single base substitution G A intron_variant MELA-AU 7 99507577 99507577 single base substitution A G intron_variant MELA-AU 7 99507577 99507577 single base substitution A G upstream_gene_variant MELA-AU 7 99507998 99507998 single base substitution A G intron_variant MELA-AU 7 99507998 99507998 single base substitution A G upstream_gene_variant MELA-AU 7 99508105 99508105 single base substitution G A intron_variant MELA-AU 7 99508105 99508105 single base substitution G A upstream_gene_variant MELA-AU 7 99508554 99508554 single base substitution G A intron_variant MELA-AU 7 99508554 99508554 single base substitution G A upstream_gene_variant MELA-AU 7 99508568 99508568 single base substitution G A intron_variant MELA-AU 7 99508568 99508568 single base substitution G A upstream_gene_variant MELA-AU 7 99509425 99509425 single base substitution G A intron_variant MELA-AU 7 99509425 99509425 single base substitution G A upstream_gene_variant MELA-AU 7 99509582 99509582 single base substitution G A intron_variant MELA-AU 7 99509582 99509582 single base substitution G A upstream_gene_variant MELA-AU 7 99510253 99510253 single base substitution G A intron_variant MELA-AU 7 99510253 99510253 single base substitution G A upstream_gene_variant MELA-AU 7 99510260 99510260 single base substitution G A intron_variant MELA-AU 7 99510260 99510260 single base substitution G A upstream_gene_variant MELA-AU 7 99510509 99510509 single base substitution A G intron_variant MELA-AU 7 99510509 99510509 single base substitution A G upstream_gene_variant MELA-AU 7 99511230 99511230 single base substitution G A intron_variant MELA-AU 7 99511230 99511230 single base substitution G A upstream_gene_variant MELA-AU 7 99513141 99513141 single base substitution G A intron_variant MELA-AU 7 99513278 99513278 single base substitution A T intron_variant MELA-AU 7 99513954 99513954 single base substitution C A intron_variant MELA-AU 7 99514419 99514419 single base substitution G A intron_variant MELA-AU 7 99514655 99514655 single base substitution C T intron_variant MELA-AU 7 99514660 99514660 single base substitution G A intron_variant MELA-AU 7 99514879 99514879 single base substitution T C intron_variant MELA-AU 7 99515250 99515250 single base substitution G A intron_variant MELA-AU 7 99516171 99516171 single base substitution A G intron_variant MELA-AU 7 99516689 99516689 single base substitution G T synonymous_variant S112S 336C>A MELA-AU 7 99516689 99516689 single base substitution G T synonymous_variant S13S 39C>A MELA-AU 7 99517200 99517200 single base substitution G T 5_prime_UTR_variant MELA-AU 7 99517200 99517200 single base substitution G T upstream_gene_variant MELA-AU 7 99518400 99518400 single base substitution G A upstream_gene_variant MELA-AU 7 99518432 99518432 single base substitution G A upstream_gene_variant MELA-AU 7 99518459 99518459 single base substitution T C upstream_gene_variant MELA-AU 7 99518598 99518598 single base substitution C T upstream_gene_variant MELA-AU 7 99518645 99518645 single base substitution C T upstream_gene_variant MELA-AU 7 99518646 99518646 single base substitution C T upstream_gene_variant MELA-AU 7 99519280 99519280 single base substitution C T upstream_gene_variant MELA-AU 7 99519574 99519574 single base substitution C T upstream_gene_variant MELA-AU 7 99520148 99520148 single base substitution A C upstream_gene_variant MELA-AU 7 99520616 99520616 single base substitution C T upstream_gene_variant MELA-AU 7 99520897 99520897 single base substitution C T upstream_gene_variant MELA-AU 7 99520965 99520965 single base substitution C T upstream_gene_variant MELA-AU 7 99521079 99521079 single base substitution C T upstream_gene_variant MELA-AU 7 99522103 99522103 single base substitution C T upstream_gene_variant ORCA-IN 7 99474087 99474087 single base substitution G A downstream_gene_variant ORCA-IN 7 99474259 99474259 single base substitution G A downstream_gene_variant ORCA-IN 7 99474646 99474646 single base substitution T C synonymous_variant E191E 573A>G OV-AU 7 99472942 99472942 single base substitution C G downstream_gene_variant OV-AU 7 99475833 99475833 single base substitution G A intron_variant OV-AU 7 99484667 99484667 single base substitution T C downstream_gene_variant OV-AU 7 99484667 99484667 single base substitution T C intron_variant OV-AU 7 99487200 99487200 single base substitution G C downstream_gene_variant OV-AU 7 99487200 99487200 single base substitution G C intron_variant OV-AU 7 99493295 99493295 single base substitution T C intron_variant OV-AU 7 99493655 99493655 single base substitution G A intron_variant OV-AU 7 99495292 99495292 single base substitution C T downstream_gene_variant OV-AU 7 99495292 99495292 single base substitution C T intron_variant OV-AU 7 99503492 99503492 single base substitution G C downstream_gene_variant OV-AU 7 99503492 99503492 single base substitution G C intron_variant OV-AU 7 99505118 99505118 single base substitution T A downstream_gene_variant OV-AU 7 99505118 99505118 single base substitution T A intron_variant OV-AU 7 99520688 99520688 single base substitution T C upstream_gene_variant OV-US 7 99489913 99489913 single base substitution A G intron_variant OV-US 7 99489913 99489913 single base substitution A G missense_variant F433S 1298T>C OV-US 7 99489913 99489913 single base substitution A G missense_variant F459S 1376T>C PACA-AU 7 99471416 99471416 single base substitution G C downstream_gene_variant PACA-AU 7 99471515 99471515 deletion of <=200bp T - downstream_gene_variant PACA-AU 7 99476099 99476099 single base substitution A T intron_variant PACA-AU 7 99479666 99479666 single base substitution G A intron_variant PACA-AU 7 99482650 99482650 single base substitution A C intron_variant PACA-AU 7 99491457 99491457 single base substitution G A intron_variant PACA-AU 7 99492740 99492740 single base substitution T G intron_variant PACA-AU 7 99507352 99507352 insertion of <=200bp - G intron_variant PACA-AU 7 99507352 99507352 insertion of <=200bp - G upstream_gene_variant PACA-AU 7 99508330 99508330 single base substitution T C intron_variant PACA-AU 7 99508330 99508330 single base substitution T C upstream_gene_variant PACA-AU 7 99510164 99510164 single base substitution A T intron_variant PACA-AU 7 99510164 99510164 single base substitution A T upstream_gene_variant PACA-CA 7 99469590 99469590 single base substitution G A downstream_gene_variant PACA-CA 7 99471127 99471127 single base substitution A G downstream_gene_variant PACA-CA 7 99473512 99473512 single base substitution G C downstream_gene_variant PACA-CA 7 99473712 99473712 single base substitution T A downstream_gene_variant PACA-CA 7 99474117 99474117 single base substitution C T downstream_gene_variant PACA-CA 7 99477182 99477182 single base substitution A G intron_variant PACA-CA 7 99481507 99481507 single base substitution G T intron_variant PACA-CA 7 99482941 99482941 deletion of <=200bp A - intron_variant PACA-CA 7 99483777 99483777 single base substitution C A downstream_gene_variant PACA-CA 7 99483777 99483777 single base substitution C A intron_variant PACA-CA 7 99485584 99485584 single base substitution G A downstream_gene_variant PACA-CA 7 99485584 99485584 single base substitution G A intron_variant PACA-CA 7 99491159 99491159 single base substitution T A intron_variant PACA-CA 7 99491631 99491631 insertion of <=200bp - T intron_variant PACA-CA 7 99499816 99499816 single base substitution C T intron_variant PACA-CA 7 99500840 99500840 single base substitution C T splice_donor_variant PACA-CA 7 99503818 99503818 single base substitution T A downstream_gene_variant PACA-CA 7 99503818 99503818 single base substitution T A intron_variant PACA-CA 7 99505931 99505931 single base substitution A C exon_variant PACA-CA 7 99505931 99505931 single base substitution A C intron_variant PACA-CA 7 99506319 99506319 single base substitution C T exon_variant PACA-CA 7 99506319 99506319 single base substitution C T synonymous_variant T103T 309G>A PACA-CA 7 99506319 99506319 single base substitution C T synonymous_variant T202T 606G>A PACA-CA 7 99506319 99506319 single base substitution C T synonymous_variant T228T 684G>A PACA-CA 7 99511318 99511318 single base substitution A T intron_variant PACA-CA 7 99511318 99511318 single base substitution A T upstream_gene_variant PACA-CA 7 99511323 99511323 single base substitution T C intron_variant PACA-CA 7 99511323 99511323 single base substitution T C upstream_gene_variant PACA-CA 7 99511705 99511705 single base substitution A C intron_variant PACA-CA 7 99511705 99511705 single base substitution A C upstream_gene_variant PACA-CA 7 99511828 99511828 single base substitution G A intron_variant PACA-CA 7 99511828 99511828 single base substitution G A upstream_gene_variant PACA-CA 7 99511890 99511890 single base substitution C A intron_variant PACA-CA 7 99511890 99511890 single base substitution C A upstream_gene_variant PACA-CA 7 99512937 99512937 single base substitution C A intron_variant PACA-CA 7 99513870 99513870 single base substitution T G intron_variant PACA-CA 7 99519456 99519456 single base substitution G C upstream_gene_variant PACA-CA 7 99519954 99519954 single base substitution A C upstream_gene_variant PAEN-AU 7 99473443 99473443 single base substitution G C downstream_gene_variant PAEN-AU 7 99498357 99498357 single base substitution G A downstream_gene_variant PAEN-AU 7 99498357 99498357 single base substitution G A intron_variant PAEN-AU 7 99513573 99513573 single base substitution T C intron_variant PAEN-IT 7 99484428 99484428 single base substitution G C downstream_gene_variant PAEN-IT 7 99484428 99484428 single base substitution G C intron_variant PBCA-DE 7 99472658 99472658 single base substitution A T downstream_gene_variant PBCA-DE 7 99473929 99473929 single base substitution T G downstream_gene_variant PBCA-DE 7 99474940 99474941 deletion of <=200bp TG - intron_variant PBCA-DE 7 99475307 99475307 single base substitution G A intron_variant PBCA-DE 7 99478690 99478690 single base substitution G A intron_variant PBCA-DE 7 99485565 99485565 deletion of <=200bp A - downstream_gene_variant PBCA-DE 7 99485565 99485565 deletion of <=200bp A - intron_variant PBCA-DE 7 99486238 99486238 single base substitution T C downstream_gene_variant PBCA-DE 7 99486238 99486238 single base substitution T C intron_variant PBCA-DE 7 99492124 99492124 insertion of <=200bp - A intron_variant PBCA-DE 7 99492303 99492307 deletion of <=200bp AAAAG - intron_variant PBCA-DE 7 99506757 99506758 deletion of <=200bp GT - intron_variant PBCA-DE 7 99513588 99513588 single base substitution G T intron_variant PBCA-DE 7 99519933 99519934 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 7 99520876 99520876 single base substitution G T upstream_gene_variant PRAD-CA 7 99509718 99509718 single base substitution G A intron_variant PRAD-CA 7 99509718 99509718 single base substitution G A upstream_gene_variant PRAD-UK 7 99492876 99492876 single base substitution T A intron_variant PRAD-UK 7 99498539 99498539 insertion of <=200bp - TTTCTTCATATTTCTCAGGG downstream_gene_variant PRAD-UK 7 99498539 99498539 insertion of <=200bp - TTTCTTCATATTTCTCAGGG intron_variant PRAD-UK 7 99507506 99507506 single base substitution C T intron_variant PRAD-UK 7 99507506 99507506 single base substitution C T upstream_gene_variant PRAD-UK 7 99510040 99510047 deletion of <=200bp GCTACTTG - intron_variant PRAD-UK 7 99510040 99510047 deletion of <=200bp GCTACTTG - upstream_gene_variant PRAD-UK 7 99515359 99515362 deletion of <=200bp AAAT - intron_variant PRAD-UK 7 99521866 99521866 single base substitution T A upstream_gene_variant PRAD-US 7 99474214 99474214 single base substitution G T downstream_gene_variant PRAD-US 7 99474292 99474292 single base substitution C T downstream_gene_variant PRAD-US 7 99474462 99474462 single base substitution C T downstream_gene_variant PRAD-US 7 99506411 99506411 single base substitution T C exon_variant PRAD-US 7 99506411 99506411 single base substitution T C missense_variant R172G 514A>G PRAD-US 7 99506411 99506411 single base substitution T C missense_variant R198G 592A>G PRAD-US 7 99506411 99506411 single base substitution T C missense_variant R73G 217A>G READ-US 7 99473800 99473800 single base substitution G T downstream_gene_variant READ-US 7 99473878 99473878 single base substitution C T downstream_gene_variant READ-US 7 99474086 99474086 single base substitution C T downstream_gene_variant RECA-EU 7 99492416 99492416 single base substitution A G intron_variant RECA-EU 7 99494846 99494846 single base substitution C T downstream_gene_variant RECA-EU 7 99494846 99494846 single base substitution C T intron_variant RECA-EU 7 99495956 99495956 single base substitution T C downstream_gene_variant RECA-EU 7 99495956 99495956 single base substitution T C intron_variant RECA-EU 7 99501736 99501736 single base substitution A G downstream_gene_variant RECA-EU 7 99501736 99501736 single base substitution A G intron_variant RECA-EU 7 99507353 99507353 single base substitution T G intron_variant RECA-EU 7 99507353 99507353 single base substitution T G upstream_gene_variant RECA-EU 7 99509457 99509457 single base substitution G C intron_variant RECA-EU 7 99509457 99509457 single base substitution G C upstream_gene_variant RECA-EU 7 99519593 99519593 single base substitution A C upstream_gene_variant RECA-EU 7 99519749 99519749 single base substitution A C upstream_gene_variant SKCA-BR 7 99471771 99471771 single base substitution G A downstream_gene_variant SKCA-BR 7 99473230 99473230 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 7 99475208 99475208 single base substitution G A intron_variant SKCA-BR 7 99475209 99475209 single base substitution G A intron_variant SKCA-BR 7 99477004 99477004 single base substitution C T intron_variant SKCA-BR 7 99479526 99479526 single base substitution G A intron_variant SKCA-BR 7 99480275 99480275 single base substitution G A intron_variant SKCA-BR 7 99481742 99481742 single base substitution G A intron_variant SKCA-BR 7 99482379 99482379 single base substitution G A intron_variant SKCA-BR 7 99484204 99484211 deletion of <=200bp AACATTTG - downstream_gene_variant SKCA-BR 7 99484204 99484211 deletion of <=200bp AACATTTG - intron_variant SKCA-BR 7 99485564 99485565 deletion of <=200bp GA - downstream_gene_variant SKCA-BR 7 99485564 99485565 deletion of <=200bp GA - intron_variant SKCA-BR 7 99485566 99485566 single base substitution A C downstream_gene_variant SKCA-BR 7 99485566 99485566 single base substitution A C intron_variant SKCA-BR 7 99485939 99485939 single base substitution G A downstream_gene_variant SKCA-BR 7 99485939 99485939 single base substitution G A intron_variant SKCA-BR 7 99485955 99485955 single base substitution C T downstream_gene_variant SKCA-BR 7 99485955 99485955 single base substitution C T intron_variant SKCA-BR 7 99486017 99486017 single base substitution C T downstream_gene_variant SKCA-BR 7 99486017 99486017 single base substitution C T intron_variant SKCA-BR 7 99486032 99486032 single base substitution C T downstream_gene_variant SKCA-BR 7 99486032 99486032 single base substitution C T intron_variant SKCA-BR 7 99486165 99486165 single base substitution C T downstream_gene_variant SKCA-BR 7 99486165 99486165 single base substitution C T intron_variant SKCA-BR 7 99487382 99487382 single base substitution G A downstream_gene_variant SKCA-BR 7 99487382 99487382 single base substitution G A intron_variant SKCA-BR 7 99489470 99489470 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 99489470 99489470 single base substitution C T intron_variant SKCA-BR 7 99491590 99491591 deletion of <=200bp CT - intron_variant SKCA-BR 7 99494788 99494788 single base substitution A G downstream_gene_variant SKCA-BR 7 99494788 99494788 single base substitution A G intron_variant SKCA-BR 7 99495423 99495423 single base substitution G A downstream_gene_variant SKCA-BR 7 99495423 99495423 single base substitution G A intron_variant SKCA-BR 7 99496869 99496869 single base substitution G A downstream_gene_variant SKCA-BR 7 99496869 99496869 single base substitution G A intron_variant SKCA-BR 7 99498162 99498162 single base substitution G A downstream_gene_variant SKCA-BR 7 99498162 99498162 single base substitution G A intron_variant SKCA-BR 7 99498552 99498552 insertion of <=200bp - CTCAGGGTTTCT downstream_gene_variant SKCA-BR 7 99498552 99498552 insertion of <=200bp - CTCAGGGTTTCT intron_variant SKCA-BR 7 99498553 99498557 deletion of <=200bp TCATA - downstream_gene_variant SKCA-BR 7 99498553 99498557 deletion of <=200bp TCATA - intron_variant SKCA-BR 7 99502068 99502068 single base substitution G A downstream_gene_variant SKCA-BR 7 99502068 99502068 single base substitution G A intron_variant SKCA-BR 7 99504948 99504948 single base substitution G A downstream_gene_variant SKCA-BR 7 99504948 99504948 single base substitution G A intron_variant SKCA-BR 7 99508917 99508917 single base substitution A G intron_variant SKCA-BR 7 99508917 99508917 single base substitution A G upstream_gene_variant SKCA-BR 7 99510153 99510153 insertion of <=200bp - TC intron_variant SKCA-BR 7 99510153 99510153 insertion of <=200bp - TC upstream_gene_variant SKCA-BR 7 99510894 99510894 single base substitution G A intron_variant SKCA-BR 7 99510894 99510894 single base substitution G A upstream_gene_variant SKCA-BR 7 99517391 99517391 single base substitution C T upstream_gene_variant SKCA-BR 7 99517392 99517392 single base substitution C T upstream_gene_variant SKCA-BR 7 99518146 99518146 single base substitution C T upstream_gene_variant SKCA-BR 7 99518683 99518683 single base substitution C T upstream_gene_variant SKCA-BR 7 99519809 99519809 single base substitution G A upstream_gene_variant SKCA-BR 7 99520300 99520300 insertion of <=200bp - CA upstream_gene_variant SKCM-US 7 99473805 99473805 single base substitution C T downstream_gene_variant SKCM-US 7 99473921 99473921 single base substitution C T downstream_gene_variant SKCM-US 7 99474348 99474348 single base substitution G A downstream_gene_variant SKCM-US 7 99474515 99474515 single base substitution G A downstream_gene_variant SKCM-US 7 99474579 99474579 single base substitution G A downstream_gene_variant SKCM-US 7 99474602 99474602 single base substitution C T 3_prime_UTR_variant SKCM-US 7 99489852 99489852 single base substitution G A intron_variant SKCM-US 7 99489852 99489852 single base substitution G A synonymous_variant L453L 1359C>T SKCM-US 7 99489852 99489852 single base substitution G A synonymous_variant L479L 1437C>T SKCM-US 7 99489896 99489896 single base substitution C T intron_variant SKCM-US 7 99489896 99489896 single base substitution C T missense_variant G439R 1315G>A SKCM-US 7 99489896 99489896 single base substitution C T missense_variant G465R 1393G>A SKCM-US 7 99489935 99489935 single base substitution G A intron_variant SKCM-US 7 99489935 99489935 single base substitution G A missense_variant R426C 1276C>T SKCM-US 7 99489935 99489935 single base substitution G A missense_variant R452C 1354C>T SKCM-US 7 99490094 99490094 single base substitution C G intron_variant SKCM-US 7 99490094 99490094 single base substitution C G missense_variant E373Q 1117G>C SKCM-US 7 99490094 99490094 single base substitution C G missense_variant E399Q 1195G>C SKCM-US 7 99490188 99490188 single base substitution G A intron_variant SKCM-US 7 99490188 99490188 single base substitution G A synonymous_variant P341P 1023C>T SKCM-US 7 99490188 99490188 single base substitution G A synonymous_variant P367P 1101C>T SKCM-US 7 99506319 99506319 single base substitution C T exon_variant SKCM-US 7 99506319 99506319 single base substitution C T synonymous_variant T103T 309G>A SKCM-US 7 99506319 99506319 single base substitution C T synonymous_variant T202T 606G>A SKCM-US 7 99506319 99506319 single base substitution C T synonymous_variant T228T 684G>A SKCM-US 7 99506323 99506325 deletion of <=200bp TCT - disruptive_inframe_deletion EE101E SKCM-US 7 99506323 99506325 deletion of <=200bp TCT - disruptive_inframe_deletion EE200E SKCM-US 7 99506323 99506325 deletion of <=200bp TCT - disruptive_inframe_deletion EE226E SKCM-US 7 99506323 99506325 deletion of <=200bp TCT - exon_variant SKCM-US 7 99521176 99521176 single base substitution C T upstream_gene_variant SKCM-US 7 99521204 99521204 single base substitution C T upstream_gene_variant STAD-US 7 99473841 99473841 single base substitution A G downstream_gene_variant STAD-US 7 99473925 99473925 single base substitution G T downstream_gene_variant STAD-US 7 99474203 99474203 insertion of <=200bp - C downstream_gene_variant STAD-US 7 99474306 99474306 single base substitution G A downstream_gene_variant STAD-US 7 99474447 99474447 single base substitution A G downstream_gene_variant STAD-US 7 99474544 99474544 single base substitution G A downstream_gene_variant STAD-US 7 99489911 99489913 deletion of <=200bp AGA - disruptive_inframe_deletion FY433Y STAD-US 7 99489911 99489913 deletion of <=200bp AGA - disruptive_inframe_deletion FY459Y STAD-US 7 99489911 99489913 deletion of <=200bp AGA - intron_variant STAD-US 7 99490019 99490019 single base substitution C T intron_variant STAD-US 7 99490019 99490019 single base substitution C T missense_variant A398T 1192G>A STAD-US 7 99490019 99490019 single base substitution C T missense_variant A424T 1270G>A STAD-US 7 99490087 99490087 single base substitution A C intron_variant STAD-US 7 99490087 99490087 single base substitution A C missense_variant V375G 1124T>G STAD-US 7 99490087 99490087 single base substitution A C missense_variant V401G 1202T>G STAD-US 7 99516942 99516942 single base substitution C T missense_variant G28D 83G>A STAD-US 7 99516942 99516942 single base substitution C T upstream_gene_variant UCEC-US 7 99473921 99473921 single base substitution C T downstream_gene_variant UCEC-US 7 99474116 99474116 single base substitution A G downstream_gene_variant UCEC-US 7 99474137 99474137 single base substitution C T downstream_gene_variant UCEC-US 7 99474174 99474174 single base substitution C T downstream_gene_variant UCEC-US 7 99474390 99474390 single base substitution C A downstream_gene_variant UCEC-US 7 99474479 99474479 single base substitution A G downstream_gene_variant UCEC-US 7 99474603 99474603 single base substitution G A 3_prime_UTR_variant UCEC-US 7 99490015 99490015 single base substitution C T intron_variant UCEC-US 7 99490015 99490015 single base substitution C T missense_variant G399D 1196G>A UCEC-US 7 99490015 99490015 single base substitution C T missense_variant G425D 1274G>A UCEC-US 7 99500861 99500861 single base substitution T C missense_variant E175G 524A>G UCEC-US 7 99500861 99500861 single base substitution T C missense_variant E274G 821A>G UCEC-US 7 99500861 99500861 single base substitution T C missense_variant E300G 899A>G UCEC-US 7 99501222 99501222 single base substitution C A downstream_gene_variant UCEC-US 7 99501222 99501222 single base substitution C A splice_acceptor_variant UCEC-US 7 99506313 99506313 single base substitution C A exon_variant UCEC-US 7 99506313 99506313 single base substitution C A missense_variant K105N 315G>T UCEC-US 7 99506313 99506313 single base substitution C A missense_variant K204N 612G>T UCEC-US 7 99506313 99506313 single base substitution C A missense_variant K230N 690G>T UCEC-US 7 99514365 99514365 single base substitution C A intron_variant UCEC-US 7 99514365 99514365 single base substitution C A missense_variant R144I 431G>T UCEC-US 7 99516655 99516655 single base substitution C T missense_variant D124N 370G>A UCEC-US 7 99516655 99516655 single base substitution C T missense_variant D25N 73G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CRC-19T COSM5482144 c.1172A>T p.E391V Substitution - Missense 7:99892494-99892494 - TCGA-BR-8487-01 COSM3883900 c.83G>A p.G28D Substitution - Missense 7:99919319-99919319 - PD13416a COSM5790333 c.995C>A p.T332K Substitution - Missense 7:99892671-99892671 - TCGA-BS-A0UV-01 COSM1093910 c.370G>A p.D124N Substitution - Missense 7:99919032-99919032 - LAU108 COSM233642 c.1481C>T p.P494L Substitution - Missense 7:99892185-99892185 - PD4085a COSM219382 c.646C>A p.L216M Substitution - Missense 7:99908734-99908734 - SS6003305 COSM5036854 c.787G>C p.E263Q Substitution - Missense 7:99908593-99908593 - TCGA-FW-A3R5-06 COSM3382033 c.684G>A p.T228T Substitution - coding silent 7:99908696-99908696 - 43 COSM3642977 c.1354C>T p.R452C Substitution - Missense 7:99892312-99892312 - HCC4 COSM1623379 c.1383C>T p.S461S Substitution - coding silent 7:99892283-99892283 - HCT15 COSM1673349 c.1030G>A p.A344T Substitution - Missense 7:99892636-99892636 - TCGA-AM-5820-01 COSM3762924 c.861A>G p.V287V Substitution - coding silent 7:99903276-99903276 - PTC-7C COSM3762926 c.849T>C p.S283S Substitution - coding silent 7:99903288-99903288 - 471 COSM4437879 c.167C>A p.S56* Substitution - Nonsense 7:99919235-99919235 - ESCC-175T COSM3942426 c.1162G>C p.D388H Substitution - Missense 7:99892504-99892504 - TCGA-AR-A24H-01 COSM5835485 c.13delG p.D5fs*6 Deletion - Frameshift 7:99919389-99919389 - TCGA-06-0119-01 COSM3412570 c.106C>A p.L36M Substitution - Missense 7:99919296-99919296 - TCGA-14-1829-01 COSM3412568 c.369C>T p.I123I Substitution - coding silent 7:99919033-99919033 - TCGA-D1-A17Q-01 COSM1093902 c.899A>G p.E300G Substitution - Missense 7:99903238-99903238 - TCGA-FW-A3R5-06 COSM3924338 c.1393G>A p.G465R Substitution - Missense 7:99892273-99892273 - CHC1739T COSM4805409 c.772C>T p.Q258* Substitution - Nonsense 7:99908608-99908608 - TCGA-A8-A0A6-01 COSM3833639 c.1309A>C p.T437P Substitution - Missense 7:99892357-99892357 - TCGA-EE-A2GM-06 COSM3642977 c.1354C>T p.R452C Substitution - Missense 7:99892312-99892312 - PD13767a COSM5796713 c.382G>A p.E128K Substitution - Missense 7:99919020-99919020 - D28 COSM5546014 c.916C>T p.Q306* Substitution - Nonsense 7:99903221-99903221 - ESCC_33 COSM5628345 c.1392C>T p.D464D Substitution - coding silent 7:99892274-99892274 - TCGA-A8-A0A6-01 COSM3833638 c.1408A>C p.T470P Substitution - Missense 7:99892258-99892258 - CHC1741T COSM4805544 c.276G>A p.E92E Substitution - coding silent 7:99919126-99919126 - TCGA-A8-A0A6-01 COSM3833641 c.1187T>G p.V396G Substitution - Missense 7:99892479-99892479 - ODG2 COSM5731517 c.310_311insG p.P104fs*31 Insertion - Frameshift 7:99919091-99919092 - BD124T COSM5492265 c.1384G>A p.A462T Substitution - Missense 7:99892282-99892282 - YUJUBE COSM5408395 c.915C>T p.F305F Substitution - coding silent 7:99903222-99903222 - ccRCC-43 COSM1664686 c.1259A>C p.Y420S Substitution - Missense 7:99892407-99892407 - T3064 COSM4736087 c.421G>T p.E141* Substitution - Nonsense 7:99916752-99916752 - TCGA-12-0615-01 COSM2153534 c.502G>A p.V168M Substitution - Missense 7:99909630-99909630 - CSCC-27-T COSM4463809 c.1306C>T p.P436S Substitution - Missense 7:99892360-99892360 - TCGA-A6-6653-01 COSM1453325 c.1220G>A p.R407H Substitution - Missense 7:99892446-99892446 - PCSI_0264_Pa_P_526 COSM3267434 c.919+1G>A p.? Unknown 7:99903217-99903217 - MO_1232 COSM5550832 c.316T>G p.C106G Substitution - Missense 7:99919086-99919086 - TCGA-CK-5916-01 COSM1453327 c.870G>A p.K290K Substitution - coding silent 7:99903267-99903267 - TCGA-B5-A0JY-01 COSM1093900 c.1274G>A p.G425D Substitution - Missense 7:99892392-99892392 - CSCC-10-T COSM3642977 c.1354C>T p.R452C Substitution - Missense 7:99892312-99892312 - TCGA-AN-A046-01 COSM3833640 c.1252G>T p.A418S Substitution - Missense 7:99892414-99892414 - TCGA-24-1413-01 COSM76820 c.1376T>C p.F459S Substitution - Missense 7:99892290-99892290 - PD3985a COSM165133 c.1043T>A p.F348Y Substitution - Missense 7:99892623-99892623 - 585208 COSM326758 c.911G>T p.R304L Substitution - Missense 7:99903226-99903226 - PD4085a COSM219382 c.646C>A p.L216M Substitution - Missense 7:99908734-99908734 - 78 COSM5016191 c.610delT p.S204fs*18 Deletion - Frameshift 7:99908770-99908770 - TCGA-18-3417-01 COSM748270 c.1147G>C p.E383Q Substitution - Missense 7:99892519-99892519 - Pat_04_A COSM5873536 c.1219C>T p.R407C Substitution - Missense 7:99892447-99892447 - T3024 COSM4736084 c.1200C>T p.D400D Substitution - coding silent 7:99892466-99892466 - S02376 COSM5697287 c.1321C>T p.P441S Substitution - Missense 7:99892345-99892345 - TCGA-AX-A0J0-01 COSM1093904 c.799-1G>T p.? Unknown 7:99903599-99903599 - TCGA-DI-A0WH-01 COSM1093898 c.1404G>A p.L468L Substitution - coding silent 7:99892262-99892262 - 19 COSM5746768 c.1352A>T p.D451V Substitution - Missense 7:99892314-99892314 - TCGA-AM-5820-01 COSM3762926 c.849T>C p.S283S Substitution - coding silent 7:99903288-99903288 - TCGA-D1-A17Q-01 COSM1093906 c.690G>T p.K230N Substitution - Missense 7:99908690-99908690 - T3064 COSM3267427 c.960C>T p.L320L Substitution - coding silent 7:99892706-99892706 - TCGA-AA-3510-01 COSM1453328 c.663G>T p.L221F Substitution - Missense 7:99908717-99908717 - TCGA-D1-A17Q-01 COSM1093908 c.431G>T p.R144I Substitution - Missense 7:99916742-99916742 - TCGA-GF-A6C9-06 COSM4902493 c.1437C>T p.L479L Substitution - coding silent 7:99892229-99892229 - TCGA-LG-A6GG-01 COSM4939400 c.590T>C p.M197T Substitution - Missense 7:99908790-99908790 - CSCC-45-T COSM4524685 c.1287G>A p.L429L Substitution - coding silent 7:99892379-99892379 - PCSI_0083_Pa_X COSM3382033 c.684G>A p.T228T Substitution - coding silent 7:99908696-99908696 - HRA19 COSM4638034 c.985G>A p.V329M Substitution - Missense 7:99892681-99892681 - 587376 COSM1230334 c.1141T>G p.Y381D Substitution - Missense 7:99892525-99892525 - HA7-RCC COSM24038 c.1469C>T p.S490F Substitution - Missense 7:99892197-99892197 - T55 COSM3642977 c.1354C>T p.R452C Substitution - Missense 7:99892312-99892312 - T2940 COSM4736085 c.494G>A p.R165H Substitution - Missense 7:99909638-99909638 - T3202 COSM2153534 c.502G>A p.V168M Substitution - Missense 7:99909630-99909630 - CHC1741T COSM4805544 c.276G>A p.E92E Substitution - coding silent 7:99919126-99919126 - RK26-R8 COSM4411110 c.505G>C p.A169P Substitution - Missense 7:99909627-99909627 - TCGA-34-5231-01 COSM748271 c.1463T>A p.L488* Substitution - Nonsense 7:99892203-99892203 - sysucc-311T COSM5467270 c.686A>C p.K229T Substitution - Missense 7:99908694-99908694 - HX13T COSM1623379 c.1383C>T p.S461S Substitution - coding silent 7:99892283-99892283 - TCGA-AA-A01K-01 COSM299993 c.790C>G p.L264V Substitution - Missense 7:99908590-99908590 - TCGA-BR-6452-01 COSM3883899 c.1202T>G p.V401G Substitution - Missense 7:99892464-99892464 - HCC4T COSM1623379 c.1383C>T p.S461S Substitution - coding silent 7:99892283-99892283 - YUKAT COSM5408399 c.844T>C p.Y282H Substitution - Missense 7:99903293-99903293 - T3152 COSM4736088 c.351T>C p.T117T Substitution - coding silent 7:99919051-99919051 - PCSI_0083_Pa_P COSM3382033 c.684G>A p.T228T Substitution - coding silent 7:99908696-99908696 - TCGA-A8-A0A6-01 COSM3833642 c.758T>G p.V253G Substitution - Missense 7:99908622-99908622 - HCC021T COSM5815844 c.876G>T p.V292V Substitution - coding silent 7:99903261-99903261 - LP2000331-DNA_A01 COSM5952572 c.472-5G>A p.? Unknown 7:99909665-99909665 - 2_RESISTANT COSM1722844 c.627C>T p.F209F Substitution - coding silent 7:99908753-99908753 - PD8979a COSM5792375 c.394-1G>C p.? Unknown 7:99916780-99916780 - PD4085a COSM219382 c.646C>A p.L216M Substitution - Missense 7:99908734-99908734 - YUSCA COSM5408397 c.896_897AG>GA p.K299R Substitution - Missense 7:99903240-99903241 - TCGA-ER-A194-01 COSM3382033 c.684G>A p.T228T Substitution - coding silent 7:99908696-99908696 - TCGA-DA-A1I7-06 COSM3642979 c.1101C>T p.P367P Substitution - coding silent 7:99892565-99892565 - TCGA-HC-7748-01 COSM3675009 c.592A>G p.R198G Substitution - Missense 7:99908788-99908788 - PT14_1 COSM5896898 c.1373C>T p.S458F Substitution - Missense 7:99892293-99892293 - TCGA-CD-A4MI-01 COSM3883898 c.1270G>A p.A424T Substitution - Missense 7:99892396-99892396 - TCGA-AC-A23H-01 COSM3833644 c.369C>G p.I123M Substitution - Missense 7:99919033-99919033 - PCSI_0083_Pa_P_526 COSM3382033 c.684G>A p.T228T Substitution - coding silent 7:99908696-99908696 - PTC-515C COSM4162533 c.117C>G p.N39K Substitution - Missense 7:99919285-99919285 - LUAD_E00522 COSM353560 c.1028C>T p.S343L Substitution - Missense 7:99892638-99892638 - ESO-717 COSM1242953 c.1178C>T p.A393V Substitution - Missense 7:99892488-99892488 - TCGA-12-0615 COSM2153534 c.502G>A p.V168M Substitution - Missense 7:99909630-99909630 - TCGA-EE-A29D-06 COSM3642978 c.1195G>C p.E399Q Substitution - Missense 7:99892471-99892471 - HCT-15 COSM1673349 c.1030G>A p.A344T Substitution - Missense 7:99892636-99892636 - CHC1739T COSM4805409 c.772C>T p.Q258* Substitution - Nonsense 7:99908608-99908608 - 2_PRE-TREATMENT COSM1722844 c.627C>T p.F209F Substitution - coding silent 7:99908753-99908753 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.50749 7q22-q31.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.F459S c.1376T>C 7 99489913 OV A T Missense p.F348Y c.1043T>A 7 99490246 BRCA A T Nonsense p.L488* c.1463T>A 7 99489826 LUSC C A Missense p.R304L c.911G>T 7 99500849 SCLC C A Missense p.R398L c.1193G>T 7 99490096 LUAD C A Missense p.S422I c.1265G>T 7 99490024 LUAD C G Missense p.E383Q c.1147G>C 7 99490142 LUSC C T IntronicSNV . c.919+1193G>A 7 99499648 CM C T Missense p.D215N c.643G>A 7 99506360 BRCA C T Missense p.R196Q c.587G>A 7 99506416 CM C T Missense p.V168M c.502G>A 7 99507253 GBM C T Synonymous p.G455G c.1365G>A 7 99489924 HNSC C T Synonymous p.T228T c.684G>A 7 99506319 CM G A 3-UTRSNV . c.1500+484C>T 7 99489305 DLBCL G A Missense p.R407C c.1219C>T 7 99490070 CM G A Missense p.R452C c.1354C>T 7 99489935 BRCA G A Missense p.R452C c.1354C>T 7 99489935 CM G A Missense p.S283F c.848C>T 7 99500912 CM G A Missense p.S475F c.1424C>T 7 99489865 ALL G A Synonymous p.I123I c.369C>T 7 99516656 GBM G A Synonymous p.P367P c.1101C>T 7 99490188 CM G C Missense p.L264V c.790C>G 7 99506213 COREAD G C Missense p.T228R c.683C>G 7 99506320 CM G T Missense p.L36M c.106C>A 7 99516919 GBM T C Missense p.R198G c.592A>G 7 99506411 PRAD TCT - InFrameDeletion p.E227delE c.678_680delAGA 7 99506323 CM T G IntronicSNV . c.798+30A>C 7 99506175 HC