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 12 69210628 69210628 + Nonsense_Mutation SNP C C T TCGA-OR-A5K4-01A-11D-A29I-10 TCGA-OR-A5K4-10A-01D-A29L-10 g.chr12:69210628C>T c.118C>T c.(118-120)Cga>Tga p.R40* BLCA 12 69207366 69207366 + Silent SNP A A G TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 g.chr12:69207366A>G c.114A>G c.(112-114)ttA>ttG p.L38L BLCA 12 69218172 69218172 + Missense_Mutation SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr12:69218172G>A c.295G>A c.(295-297)Gag>Aag p.E99K BLCA 12 69222685 69222685 + Missense_Mutation SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr12:69222685G>A c.565G>A c.(565-567)Gaa>Aaa p.E189K BLCA 12 69229661 69229661 + Missense_Mutation SNP C C T TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr12:69229661C>T c.644C>T c.(643-645)tCa>tTa p.S215L BLCA 12 69229748 69229748 + Nonsense_Mutation SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr12:69229748C>G c.731C>G c.(730-732)tCa>tGa p.S244* BLCA 12 69230498 69230498 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr12:69230498C>T c.794C>T c.(793-795)tCa>tTa p.S265L BLCA 12 69233624 69233624 + Missense_Mutation SNP C C G TCGA-K4-A5RI-01A-11D-A289-08 TCGA-K4-A5RI-10A-01D-A289-08 g.chr12:69233624C>G c.1396C>G c.(1396-1398)Ccc>Gcc p.P466A BRCA 12 69202261 69202261 + Missense_Mutation SNP G G C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 g.chr12:69202261G>C c.4G>C c.(4-6)Gtg>Ctg p.V2L BRCA 12 69233090 69233090 + Frame_Shift_Del DEL C C - TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr12:69233090delC c.862delC c.(862-864)cccfs p.P289fs BRCA 12 69233129 69233129 + Missense_Mutation SNP C C T TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 g.chr12:69233129C>T c.901C>T c.(901-903)Cgt>Tgt p.R301C CESC 12 69210688 69210688 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr12:69210688T>G c.178T>G c.(178-180)Ttg>Gtg p.L60V CHOL 12 69229765 69229765 + Splice_Site SNP G G T TCGA-YR-A95A-01A-12D-A417-09 TCGA-YR-A95A-10A-01D-A41A-09 g.chr12:69229765G>T c.e7+1 COAD 12 69222657 69222657 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:69222657G>T c.537G>T c.(535-537)gaG>gaT p.E179D COAD 12 69229705 69229705 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:69229705G>A c.688G>A c.(688-690)Gac>Aac p.D230N COAD 12 69230471 69230471 + Missense_Mutation SNP A A G TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr12:69230471A>G c.767A>G c.(766-768)tAt>tGt p.Y256C COAD 12 69233090 69233090 + Frame_Shift_Del DEL C C - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr12:69233090delC c.862delC c.(862-864)cccfs p.P289fs COAD 12 69233139 69233139 + Missense_Mutation SNP G G T TCGA-DM-A1DB-01A-11D-A152-10 TCGA-DM-A1DB-10A-01D-A152-10 g.chr12:69233139G>T c.911G>T c.(910-912)tGg>tTg p.W304L COAD 12 69233162 69233162 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr12:69233162G>A c.934G>A c.(934-936)Gat>Aat p.D312N COAD 12 69233173 69233173 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:69233173A>C c.945A>C c.(943-945)gaA>gaC p.E315D COAD 12 69233505 69233505 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:69233505T>C c.1277T>C c.(1276-1278)gTc>gCc p.V426A COAD 12 69233528 69233528 + Missense_Mutation SNP A A G TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr12:69233528A>G c.1300A>G c.(1300-1302)Atg>Gtg p.M434V COAD 12 69233528 69233528 + Missense_Mutation SNP A A T TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr12:69233528A>T c.1300A>T c.(1300-1302)Atg>Ttg p.M434L COAD 12 69233618 69233618 + Missense_Mutation SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:69233618T>C c.1390T>C c.(1390-1392)Tat>Cat p.Y464H COADREAD 12 69222657 69222657 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:69222657G>T c.537G>T c.(535-537)gaG>gaT p.E179D COADREAD 12 69229705 69229705 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:69229705G>A c.688G>A c.(688-690)Gac>Aac p.D230N COADREAD 12 69230471 69230471 + Missense_Mutation SNP A A G TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr12:69230471A>G c.767A>G c.(766-768)tAt>tGt p.Y256C COADREAD 12 69230472 69230472 + Silent SNP T T C TCGA-CL-5918-01A-11D-1657-10 TCGA-CL-5918-10A-01D-1657-10 g.chr12:69230472T>C c.768T>C c.(766-768)taT>taC p.Y256Y COADREAD 12 69233090 69233090 + Frame_Shift_Del DEL C C - TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr12:69233090delC c.862delC c.(862-864)cccfs p.P289fs COADREAD 12 69233139 69233139 + Missense_Mutation SNP G G T TCGA-DM-A1DB-01A-11D-A152-10 TCGA-DM-A1DB-10A-01D-A152-10 g.chr12:69233139G>T c.911G>T c.(910-912)tGg>tTg p.W304L COADREAD 12 69233162 69233162 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr12:69233162G>A c.934G>A c.(934-936)Gat>Aat p.D312N COADREAD 12 69233173 69233173 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:69233173A>C c.945A>C c.(943-945)gaA>gaC p.E315D COADREAD 12 69233505 69233505 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:69233505T>C c.1277T>C c.(1276-1278)gTc>gCc p.V426A COADREAD 12 69233528 69233528 + Missense_Mutation SNP A A G TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr12:69233528A>G c.1300A>G c.(1300-1302)Atg>Gtg p.M434V COADREAD 12 69233528 69233528 + Missense_Mutation SNP A A T TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr12:69233528A>T c.1300A>T c.(1300-1302)Atg>Ttg p.M434L COADREAD 12 69233618 69233618 + Missense_Mutation SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:69233618T>C c.1390T>C c.(1390-1392)Tat>Cat p.Y464H ESCA 12 69229656 69229656 + Silent SNP G G A TCGA-LN-A7HY-01A-12D-A351-09 TCGA-LN-A7HY-10A-01D-A351-09 g.chr12:69229656G>A c.639G>A c.(637-639)caG>caA p.Q213Q ESCA 12 69233090 69233090 + Frame_Shift_Del DEL C C - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr12:69233090delC c.862delC c.(862-864)cccfs p.P289fs ESCA 12 69233544 69233544 + Missense_Mutation SNP G G A TCGA-LN-A7HX-01A-11D-A33E-09 TCGA-LN-A7HX-10A-01D-A33H-09 g.chr12:69233544G>A c.1316G>A c.(1315-1317)tGt>tAt p.C439Y GBM 12 69210697 69210697 + Missense_Mutation SNP G G A TCGA-06-0155-01B-01D-1492-08 TCGA-06-0155-10A-01D-1492-08 g.chr12:69210697G>A c.187G>A c.(187-189)Gtg>Atg p.V63M GBM 12 69229607 69229607 + Splice_Site SNP A A G TCGA-12-0618-01A-01D-1492-08 TCGA-12-0618-10A-01D-1492-08 g.chr12:69229607A>G c.e7-1 GBMLGG 12 69210669 69210669 + Silent SNP A A C TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 g.chr12:69210669A>C c.159A>C c.(157-159)tcA>tcC p.S53S GBMLGG 12 69210696 69210696 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:69210696C>T c.186C>T c.(184-186)ggC>ggT p.G62G GBMLGG 12 69210697 69210697 + Missense_Mutation SNP G G A TCGA-06-0155-01B-01D-1492-08 TCGA-06-0155-10A-01D-1492-08 g.chr12:69210697G>A c.187G>A c.(187-189)Gtg>Atg p.V63M GBMLGG 12 69222647 69222647 + Missense_Mutation SNP T T A TCGA-KT-A7W1-01A-11D-A34A-08 TCGA-KT-A7W1-10A-01D-A34A-08 g.chr12:69222647T>A c.527T>A c.(526-528)gTa>gAa p.V176E GBMLGG 12 69229607 69229607 + Splice_Site SNP A A G TCGA-12-0618-01A-01D-1492-08 TCGA-12-0618-10A-01D-1492-08 g.chr12:69229607A>G c.e7-1 GBMLGG 12 69229630 69229630 + Missense_Mutation SNP G G C TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 g.chr12:69229630G>C c.613G>C c.(613-615)Gaa>Caa p.E205Q GBMLGG 12 69230521 69230521 + Missense_Mutation SNP T T C TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 g.chr12:69230521T>C c.817T>C c.(817-819)Tcc>Ccc p.S273P HNSC 12 69203025 69203025 + Missense_Mutation SNP G G C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr12:69203025G>C c.34G>C c.(34-36)Ggt>Cgt p.G12R HNSC 12 69229700 69229700 + Missense_Mutation SNP C C A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr12:69229700C>A c.683C>A c.(682-684)tCt>tAt p.S228Y HNSC 12 69233471 69233471 + Missense_Mutation SNP A A G TCGA-BA-4075-01A-01D-1434-08 TCGA-BA-4075-10A-01D-1434-08 g.chr12:69233471A>G c.1243A>G c.(1243-1245)Att>Gtt p.I415V LAML 12 69230517 69230517 + Missense_Mutation SNP A A C TCGA-AB-2952-03A-01W-0733-08 TCGA-AB-2952-11A-01W-0732-08 g.chr12:69230517A>C c.813A>C c.(811-813)gaA>gaC p.E271D LGG 12 69210669 69210669 + Silent SNP A A C TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 g.chr12:69210669A>C c.159A>C c.(157-159)tcA>tcC p.S53S LGG 12 69210696 69210696 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:69210696C>T c.186C>T c.(184-186)ggC>ggT p.G62G LGG 12 69222647 69222647 + Missense_Mutation SNP T T A TCGA-KT-A7W1-01A-11D-A34A-08 TCGA-KT-A7W1-10A-01D-A34A-08 g.chr12:69222647T>A c.527T>A c.(526-528)gTa>gAa p.V176E LGG 12 69229630 69229630 + Missense_Mutation SNP G G C TCGA-DU-7309-01A-11D-2086-08 TCGA-DU-7309-10A-01D-2086-08 g.chr12:69229630G>C c.613G>C c.(613-615)Gaa>Caa p.E205Q LGG 12 69230521 69230521 + Missense_Mutation SNP T T C TCGA-FG-8185-01A-11D-2253-08 TCGA-FG-8185-10A-01D-2253-08 g.chr12:69230521T>C c.817T>C c.(817-819)Tcc>Ccc p.S273P LIHC 12 69207366 69207366 + Silent SNP A A G TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr12:69207366A>G c.114A>G c.(112-114)ttA>ttG p.L38L LIHC 12 69233083 69233083 + Missense_Mutation SNP A A C TCGA-RC-A6M4-01A-11D-A32G-10 TCGA-RC-A6M4-10A-01D-A32G-10 g.chr12:69233083A>C c.855A>C c.(853-855)gaA>gaC p.E285D LUAD 12 69210673 69210673 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr12:69210673G>T c.163G>T c.(163-165)Gat>Tat p.D55Y LUAD 12 69218142 69218142 + Splice_Site SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr12:69218142G>T c.e4-1 LUAD 12 69218366 69218366 + Missense_Mutation SNP C C A TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr12:69218366C>A c.365C>A c.(364-366)cCt>cAt p.P122H LUAD 12 69230479 69230479 + Missense_Mutation SNP G G T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 g.chr12:69230479G>T c.775G>T c.(775-777)Ggg>Tgg p.G259W LUAD 12 69233396 69233396 + Missense_Mutation SNP G G C TCGA-97-7546-01A-11D-2036-08 TCGA-97-7546-10A-01D-2036-08 g.chr12:69233396G>C c.1168G>C c.(1168-1170)Gaa>Caa p.E390Q LUSC 12 69218345 69218345 + Missense_Mutation SNP A A C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 g.chr12:69218345A>C c.344A>C c.(343-345)cAa>cCa p.Q115P LUSC 12 69233474 69233474 + Missense_Mutation SNP T T A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 g.chr12:69233474T>A c.1246T>A c.(1246-1248)Tgt>Agt p.C416S PAAD 12 69218184 69218184 + Missense_Mutation SNP C C G TCGA-HZ-A49I-01A-12D-A26I-08 TCGA-HZ-A49I-10A-01D-A26I-08 g.chr12:69218184C>G c.307C>G c.(307-309)Cac>Gac p.H103D PAAD 12 69222680 69222680 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:69222680G>T c.560G>T c.(559-561)aGc>aTc p.S187I PRAD 12 69233090 69233090 + Frame_Shift_Del DEL C C - TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr12:69233090delC c.862delC c.(862-864)cccfs p.P289fs READ 12 69230472 69230472 + Silent SNP T T C TCGA-CL-5918-01A-11D-1657-10 TCGA-CL-5918-10A-01D-1657-10 g.chr12:69230472T>C c.768T>C c.(766-768)taT>taC p.Y256Y SARC 12 69210612 69210612 + Silent SNP G G A TCGA-DX-A7EU-01A-22D-A36J-09 TCGA-DX-A7EU-10A-01D-A36M-09 g.chr12:69210612G>A c.102G>A c.(100-102)caG>caA p.Q34Q SARC 12 69222659 69222659 + Missense_Mutation SNP T T C TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 g.chr12:69222659T>C c.539T>C c.(538-540)aTa>aCa p.I180T SKCM 12 69203017 69203017 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr12:69203017C>G c.26C>G c.(25-27)cCt>cGt p.P9R SKCM 12 69207352 69207352 + Missense_Mutation SNP C C T TCGA-DA-A1HW-06A-11D-A19A-08 TCGA-DA-A1HW-10A-01D-A19A-08 g.chr12:69207352C>T c.100C>T c.(100-102)Ctt>Ttt p.L34F SKCM 12 69233100 69233100 + Missense_Mutation SNP C C T TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr12:69233100C>T c.872C>T c.(871-873)cCa>cTa p.P291L SKCM 12 69233375 69233375 + Missense_Mutation SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr12:69233375C>A c.1147C>A c.(1147-1149)Caa>Aaa p.Q383K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 12 69218377 69218377 single base substitution C T 3_prime_UTR_variant BLCA-CN 12 69218377 69218377 single base substitution C T downstream_gene_variant BLCA-CN 12 69218377 69218377 single base substitution C T exon_variant BLCA-CN 12 69218377 69218377 single base substitution C T intron_variant BLCA-CN 12 69218377 69218377 single base substitution C T missense_variant H126Y 376C>T BLCA-CN 12 69218377 69218377 single base substitution C T missense_variant H151Y 451C>T BLCA-CN 12 69218377 69218377 single base substitution C T missense_variant H157Y 469C>T BLCA-CN 12 69218377 69218377 single base substitution C T missense_variant H182Y 544C>T BLCA-CN 12 69233147 69233147 single base substitution G A 3_prime_UTR_variant BLCA-CN 12 69233147 69233147 single base substitution G A downstream_gene_variant BLCA-CN 12 69233147 69233147 single base substitution G A intron_variant BLCA-CN 12 69233147 69233147 single base substitution G A missense_variant E106K 316G>A BLCA-CN 12 69233147 69233147 single base substitution G A missense_variant E111K 331G>A BLCA-CN 12 69233147 69233147 single base substitution G A missense_variant E137K 409G>A BLCA-CN 12 69233147 69233147 single base substitution G A missense_variant E162K 484G>A BLCA-CN 12 69233147 69233147 single base substitution G A missense_variant E277K 829G>A BLCA-CN 12 69233147 69233147 single base substitution G A missense_variant E283K 847G>A BLCA-CN 12 69233147 69233147 single base substitution G A missense_variant E307K 919G>A BLCA-CN 12 69233147 69233147 single base substitution G A missense_variant E338K 1012G>A BLCA-CN 12 69233147 69233147 single base substitution G A missense_variant E59K 175G>A BLCA-CN 12 69233147 69233147 single base substitution G A missense_variant E84K 250G>A BLCA-CN 12 69233147 69233147 single base substitution G A upstream_gene_variant BLCA-US 12 69207366 69207366 single base substitution A G exon_variant BLCA-US 12 69207366 69207366 single base substitution A G intron_variant BLCA-US 12 69207366 69207366 single base substitution A G synonymous_variant L38L 114A>G BLCA-US 12 69207366 69207366 single base substitution A G synonymous_variant L44L 132A>G BLCA-US 12 69207366 69207366 single base substitution A G upstream_gene_variant BRCA-EU 12 69197967 69197967 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 69198485 69198485 single base substitution C T upstream_gene_variant BRCA-EU 12 69198730 69198730 single base substitution G A upstream_gene_variant BRCA-EU 12 69199571 69199571 single base substitution A C upstream_gene_variant BRCA-EU 12 69200012 69200012 single base substitution T G upstream_gene_variant BRCA-EU 12 69200998 69200998 single base substitution G A upstream_gene_variant BRCA-EU 12 69201165 69201165 single base substitution C T upstream_gene_variant BRCA-EU 12 69202042 69202042 single base substitution G A 5_prime_UTR_variant BRCA-EU 12 69202042 69202042 single base substitution G A upstream_gene_variant BRCA-EU 12 69202288 69202288 single base substitution G C intron_variant BRCA-EU 12 69202288 69202288 single base substitution G C upstream_gene_variant BRCA-EU 12 69202448 69202448 single base substitution G A intron_variant BRCA-EU 12 69202448 69202448 single base substitution G A upstream_gene_variant BRCA-EU 12 69203793 69203793 single base substitution G C intron_variant BRCA-EU 12 69203793 69203793 single base substitution G C upstream_gene_variant BRCA-EU 12 69204251 69204251 deletion of <=200bp A - intron_variant BRCA-EU 12 69204251 69204251 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 69204252 69204252 deletion of <=200bp T - intron_variant BRCA-EU 12 69204252 69204252 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 69204655 69204655 insertion of <=200bp - T intron_variant BRCA-EU 12 69204655 69204655 insertion of <=200bp - T upstream_gene_variant BRCA-EU 12 69205566 69205566 single base substitution G C intron_variant BRCA-EU 12 69205566 69205566 single base substitution G C upstream_gene_variant BRCA-EU 12 69205704 69205704 single base substitution T A intron_variant BRCA-EU 12 69205704 69205704 single base substitution T A upstream_gene_variant BRCA-EU 12 69206222 69206222 single base substitution G C intron_variant BRCA-EU 12 69206222 69206222 single base substitution G C upstream_gene_variant BRCA-EU 12 69208627 69208627 single base substitution C T intron_variant BRCA-EU 12 69208844 69208844 single base substitution G C intron_variant BRCA-EU 12 69209748 69209748 single base substitution A T intron_variant BRCA-EU 12 69210388 69210388 single base substitution C T intron_variant BRCA-EU 12 69211575 69211575 insertion of <=200bp - T downstream_gene_variant BRCA-EU 12 69211575 69211575 insertion of <=200bp - T intron_variant BRCA-EU 12 69212180 69212180 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 69212180 69212180 deletion of <=200bp A - intron_variant BRCA-EU 12 69212310 69212330 deletion of <=200bp TATTATAATTTGTATATTATA - downstream_gene_variant BRCA-EU 12 69212310 69212330 deletion of <=200bp TATTATAATTTGTATATTATA - intron_variant BRCA-EU 12 69212598 69212598 single base substitution C A downstream_gene_variant BRCA-EU 12 69212598 69212598 single base substitution C A intron_variant BRCA-EU 12 69213720 69213720 insertion of <=200bp - T downstream_gene_variant BRCA-EU 12 69213720 69213720 insertion of <=200bp - T intron_variant BRCA-EU 12 69213720 69213720 insertion of <=200bp - T upstream_gene_variant BRCA-EU 12 69213980 69213980 single base substitution G A downstream_gene_variant BRCA-EU 12 69213980 69213980 single base substitution G A intron_variant BRCA-EU 12 69213980 69213980 single base substitution G A upstream_gene_variant BRCA-EU 12 69214803 69214803 single base substitution G T downstream_gene_variant BRCA-EU 12 69214803 69214803 single base substitution G T intron_variant BRCA-EU 12 69214803 69214803 single base substitution G T upstream_gene_variant BRCA-EU 12 69214946 69214946 single base substitution G A downstream_gene_variant BRCA-EU 12 69214946 69214946 single base substitution G A intron_variant BRCA-EU 12 69214946 69214946 single base substitution G A upstream_gene_variant BRCA-EU 12 69215012 69215012 single base substitution G C downstream_gene_variant BRCA-EU 12 69215012 69215012 single base substitution G C intron_variant BRCA-EU 12 69215012 69215012 single base substitution G C upstream_gene_variant BRCA-EU 12 69216192 69216192 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 69216192 69216192 deletion of <=200bp T - intron_variant BRCA-EU 12 69216192 69216192 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 69216300 69216300 single base substitution A T downstream_gene_variant BRCA-EU 12 69216300 69216300 single base substitution A T intron_variant BRCA-EU 12 69216300 69216300 single base substitution A T upstream_gene_variant BRCA-EU 12 69217716 69217716 single base substitution G T downstream_gene_variant BRCA-EU 12 69217716 69217716 single base substitution G T intron_variant BRCA-EU 12 69217716 69217716 single base substitution G T upstream_gene_variant BRCA-EU 12 69217746 69217746 single base substitution T C downstream_gene_variant BRCA-EU 12 69217746 69217746 single base substitution T C intron_variant BRCA-EU 12 69217746 69217746 single base substitution T C upstream_gene_variant BRCA-EU 12 69218195 69218195 single base substitution T A 3_prime_UTR_variant BRCA-EU 12 69218195 69218195 single base substitution T A downstream_gene_variant BRCA-EU 12 69218195 69218195 single base substitution T A exon_variant BRCA-EU 12 69218195 69218195 single base substitution T A intron_variant BRCA-EU 12 69218195 69218195 single base substitution T A synonymous_variant G106G 318T>A BRCA-EU 12 69218195 69218195 single base substitution T A synonymous_variant G131G 393T>A BRCA-EU 12 69218195 69218195 single base substitution T A synonymous_variant G137G 411T>A BRCA-EU 12 69218195 69218195 single base substitution T A synonymous_variant G162G 486T>A BRCA-EU 12 69219238 69219238 single base substitution C T downstream_gene_variant BRCA-EU 12 69219238 69219238 single base substitution C T intron_variant BRCA-EU 12 69219429 69219429 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 69219429 69219429 deletion of <=200bp A - intron_variant BRCA-EU 12 69219437 69219437 single base substitution G A downstream_gene_variant BRCA-EU 12 69219437 69219437 single base substitution G A intron_variant BRCA-EU 12 69220634 69220634 single base substitution C G downstream_gene_variant BRCA-EU 12 69220634 69220634 single base substitution C G intron_variant BRCA-EU 12 69220688 69220688 single base substitution G T downstream_gene_variant BRCA-EU 12 69220688 69220688 single base substitution G T intron_variant BRCA-EU 12 69221433 69221433 single base substitution G T downstream_gene_variant BRCA-EU 12 69221433 69221433 single base substitution G T intron_variant BRCA-EU 12 69222675 69222675 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 69222675 69222675 single base substitution C T downstream_gene_variant BRCA-EU 12 69222675 69222675 single base substitution C T intron_variant BRCA-EU 12 69222675 69222675 single base substitution C T synonymous_variant S155S 465C>T BRCA-EU 12 69222675 69222675 single base substitution C T synonymous_variant S161S 483C>T BRCA-EU 12 69222675 69222675 single base substitution C T synonymous_variant S185S 555C>T BRCA-EU 12 69222675 69222675 single base substitution C T synonymous_variant S210S 630C>T BRCA-EU 12 69222675 69222675 single base substitution C T synonymous_variant S216S 648C>T BRCA-EU 12 69222720 69222720 single base substitution C T downstream_gene_variant BRCA-EU 12 69222720 69222720 single base substitution C T intron_variant BRCA-EU 12 69223872 69223872 single base substitution C T downstream_gene_variant BRCA-EU 12 69223872 69223872 single base substitution C T intron_variant BRCA-EU 12 69223952 69223952 single base substitution T G downstream_gene_variant BRCA-EU 12 69223952 69223952 single base substitution T G intron_variant BRCA-EU 12 69225351 69225351 single base substitution C T downstream_gene_variant BRCA-EU 12 69225351 69225351 single base substitution C T intron_variant BRCA-EU 12 69225934 69225934 single base substitution C G downstream_gene_variant BRCA-EU 12 69225934 69225934 single base substitution C G intron_variant BRCA-EU 12 69226154 69226154 insertion of <=200bp - T downstream_gene_variant BRCA-EU 12 69226154 69226154 insertion of <=200bp - T intron_variant BRCA-EU 12 69226321 69226321 single base substitution C T downstream_gene_variant BRCA-EU 12 69226321 69226321 single base substitution C T intron_variant BRCA-EU 12 69226488 69226488 single base substitution G A downstream_gene_variant BRCA-EU 12 69226488 69226488 single base substitution G A intron_variant BRCA-EU 12 69227841 69227841 single base substitution T C intron_variant BRCA-EU 12 69228166 69228166 single base substitution G A intron_variant BRCA-EU 12 69229144 69229144 single base substitution A G intron_variant BRCA-EU 12 69229657 69229657 single base substitution G T 3_prime_UTR_variant BRCA-EU 12 69229657 69229657 single base substitution G T intron_variant BRCA-EU 12 69229657 69229657 single base substitution G T missense_variant D184Y 550G>T BRCA-EU 12 69229657 69229657 single base substitution G T missense_variant D190Y 568G>T BRCA-EU 12 69229657 69229657 single base substitution G T missense_variant D214Y 640G>T BRCA-EU 12 69229657 69229657 single base substitution G T missense_variant D239Y 715G>T BRCA-EU 12 69229657 69229657 single base substitution G T missense_variant D245Y 733G>T BRCA-EU 12 69229657 69229657 single base substitution G T missense_variant D39Y 115G>T BRCA-EU 12 69229657 69229657 single base substitution G T missense_variant D44Y 130G>T BRCA-EU 12 69229657 69229657 single base substitution G T missense_variant D69Y 205G>T BRCA-EU 12 69229771 69229771 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 69229771 69229771 deletion of <=200bp T - intron_variant BRCA-EU 12 69229771 69229771 deletion of <=200bp T - splice_region_variant BRCA-EU 12 69231469 69231469 single base substitution T C downstream_gene_variant BRCA-EU 12 69231469 69231469 single base substitution T C intron_variant BRCA-EU 12 69231469 69231469 single base substitution T C upstream_gene_variant BRCA-EU 12 69232846 69232846 single base substitution T C downstream_gene_variant BRCA-EU 12 69232846 69232846 single base substitution T C intron_variant BRCA-EU 12 69232846 69232846 single base substitution T C upstream_gene_variant BRCA-EU 12 69233129 69233129 single base substitution C G 3_prime_UTR_variant BRCA-EU 12 69233129 69233129 single base substitution C G downstream_gene_variant BRCA-EU 12 69233129 69233129 single base substitution C G intron_variant BRCA-EU 12 69233129 69233129 single base substitution C G missense_variant R100G 298C>G BRCA-EU 12 69233129 69233129 single base substitution C G missense_variant R105G 313C>G BRCA-EU 12 69233129 69233129 single base substitution C G missense_variant R131G 391C>G BRCA-EU 12 69233129 69233129 single base substitution C G missense_variant R156G 466C>G BRCA-EU 12 69233129 69233129 single base substitution C G missense_variant R271G 811C>G BRCA-EU 12 69233129 69233129 single base substitution C G missense_variant R277G 829C>G BRCA-EU 12 69233129 69233129 single base substitution C G missense_variant R301G 901C>G BRCA-EU 12 69233129 69233129 single base substitution C G missense_variant R332G 994C>G BRCA-EU 12 69233129 69233129 single base substitution C G missense_variant R53G 157C>G BRCA-EU 12 69233129 69233129 single base substitution C G missense_variant R78G 232C>G BRCA-EU 12 69233129 69233129 single base substitution C G upstream_gene_variant BRCA-EU 12 69233460 69233460 single base substitution A G 3_prime_UTR_variant BRCA-EU 12 69233460 69233460 single base substitution A G downstream_gene_variant BRCA-EU 12 69233460 69233460 single base substitution A G intron_variant BRCA-EU 12 69233460 69233460 single base substitution A G missense_variant E163G 488A>G BRCA-EU 12 69233460 69233460 single base substitution A G missense_variant E188G 563A>G BRCA-EU 12 69233460 69233460 single base substitution A G missense_variant E210G 629A>G BRCA-EU 12 69233460 69233460 single base substitution A G missense_variant E215G 644A>G BRCA-EU 12 69233460 69233460 single base substitution A G missense_variant E241G 722A>G BRCA-EU 12 69233460 69233460 single base substitution A G missense_variant E266G 797A>G BRCA-EU 12 69233460 69233460 single base substitution A G missense_variant E381G 1142A>G BRCA-EU 12 69233460 69233460 single base substitution A G missense_variant E387G 1160A>G BRCA-EU 12 69233460 69233460 single base substitution A G missense_variant E411G 1232A>G BRCA-EU 12 69233460 69233460 single base substitution A G missense_variant E442G 1325A>G BRCA-EU 12 69233460 69233460 single base substitution A G missense_variant E75G 224A>G BRCA-EU 12 69233460 69233460 single base substitution A G upstream_gene_variant BRCA-EU 12 69234427 69234427 single base substitution A G 3_prime_UTR_variant BRCA-EU 12 69234427 69234427 single base substitution A G downstream_gene_variant BRCA-EU 12 69234427 69234427 single base substitution A G upstream_gene_variant BRCA-EU 12 69235103 69235103 single base substitution C A 3_prime_UTR_variant BRCA-EU 12 69235103 69235103 single base substitution C A downstream_gene_variant BRCA-EU 12 69235103 69235103 single base substitution C A upstream_gene_variant BRCA-EU 12 69235530 69235530 single base substitution G C 3_prime_UTR_variant BRCA-EU 12 69235530 69235530 single base substitution G C downstream_gene_variant BRCA-EU 12 69235530 69235530 single base substitution G C upstream_gene_variant BRCA-EU 12 69235640 69235640 single base substitution A G 3_prime_UTR_variant BRCA-EU 12 69235640 69235640 single base substitution A G downstream_gene_variant BRCA-EU 12 69235640 69235640 single base substitution A G upstream_gene_variant BRCA-EU 12 69236514 69236514 single base substitution T A 3_prime_UTR_variant BRCA-EU 12 69236514 69236514 single base substitution T A downstream_gene_variant BRCA-EU 12 69236514 69236514 single base substitution T A intron_variant BRCA-EU 12 69236514 69236514 single base substitution T A upstream_gene_variant BRCA-EU 12 69236875 69236875 single base substitution T G 3_prime_UTR_variant BRCA-EU 12 69236875 69236875 single base substitution T G downstream_gene_variant BRCA-EU 12 69236875 69236875 single base substitution T G exon_variant BRCA-EU 12 69236875 69236875 single base substitution T G intron_variant BRCA-EU 12 69236875 69236875 single base substitution T G upstream_gene_variant BRCA-EU 12 69237318 69237318 single base substitution C G 3_prime_UTR_variant BRCA-EU 12 69237318 69237318 single base substitution C G downstream_gene_variant BRCA-EU 12 69237318 69237318 single base substitution C G intron_variant BRCA-EU 12 69237318 69237318 single base substitution C G upstream_gene_variant BRCA-EU 12 69237578 69237578 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 69237578 69237578 single base substitution C T downstream_gene_variant BRCA-EU 12 69237578 69237578 single base substitution C T exon_variant BRCA-EU 12 69237647 69237647 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 69237647 69237647 single base substitution C T downstream_gene_variant BRCA-EU 12 69237647 69237647 single base substitution C T exon_variant BRCA-EU 12 69237647 69237647 single base substitution C T intron_variant BRCA-EU 12 69237696 69237697 deletion of <=200bp TG - 3_prime_UTR_variant BRCA-EU 12 69237696 69237697 deletion of <=200bp TG - downstream_gene_variant BRCA-EU 12 69237696 69237697 deletion of <=200bp TG - exon_variant BRCA-EU 12 69237696 69237697 deletion of <=200bp TG - intron_variant BRCA-EU 12 69238155 69238155 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 69238155 69238155 single base substitution C T downstream_gene_variant BRCA-EU 12 69238767 69238767 single base substitution C G 3_prime_UTR_variant BRCA-EU 12 69238767 69238767 single base substitution C G downstream_gene_variant BRCA-EU 12 69239146 69239146 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 69239146 69239146 single base substitution G A downstream_gene_variant BRCA-EU 12 69239617 69239617 single base substitution C T downstream_gene_variant BRCA-EU 12 69240044 69240044 insertion of <=200bp - T downstream_gene_variant BRCA-EU 12 69240879 69240879 single base substitution C T downstream_gene_variant BRCA-EU 12 69242131 69242131 single base substitution G T downstream_gene_variant BRCA-EU 12 69243274 69243274 single base substitution C G downstream_gene_variant BRCA-EU 12 69243533 69243533 single base substitution C T downstream_gene_variant BRCA-EU 12 69244067 69244067 single base substitution A C downstream_gene_variant BRCA-FR 12 69197044 69197044 single base substitution C T upstream_gene_variant BRCA-FR 12 69198277 69198277 single base substitution G T upstream_gene_variant BRCA-FR 12 69198485 69198485 single base substitution C T upstream_gene_variant BRCA-FR 12 69199571 69199571 single base substitution A C upstream_gene_variant BRCA-FR 12 69200998 69200998 single base substitution G A upstream_gene_variant BRCA-FR 12 69201415 69201415 single base substitution G T upstream_gene_variant BRCA-FR 12 69203222 69203222 single base substitution G A intron_variant BRCA-FR 12 69203222 69203222 single base substitution G A upstream_gene_variant BRCA-FR 12 69206222 69206222 single base substitution G C intron_variant BRCA-FR 12 69206222 69206222 single base substitution G C upstream_gene_variant BRCA-FR 12 69208627 69208627 single base substitution C T intron_variant BRCA-FR 12 69210388 69210388 single base substitution C T intron_variant BRCA-FR 12 69217852 69217852 single base substitution C T downstream_gene_variant BRCA-FR 12 69217852 69217852 single base substitution C T intron_variant BRCA-FR 12 69217852 69217852 single base substitution C T upstream_gene_variant BRCA-FR 12 69220688 69220688 single base substitution G T downstream_gene_variant BRCA-FR 12 69220688 69220688 single base substitution G T intron_variant BRCA-FR 12 69222720 69222720 single base substitution C T downstream_gene_variant BRCA-FR 12 69222720 69222720 single base substitution C T intron_variant BRCA-FR 12 69226321 69226321 single base substitution C T downstream_gene_variant BRCA-FR 12 69226321 69226321 single base substitution C T intron_variant BRCA-FR 12 69237693 69237693 single base substitution A G 3_prime_UTR_variant BRCA-FR 12 69237693 69237693 single base substitution A G downstream_gene_variant BRCA-FR 12 69237693 69237693 single base substitution A G exon_variant BRCA-FR 12 69237693 69237693 single base substitution A G intron_variant BRCA-FR 12 69239617 69239617 single base substitution C T downstream_gene_variant BRCA-FR 12 69240879 69240879 single base substitution C T downstream_gene_variant BRCA-FR 12 69243823 69243823 single base substitution G C downstream_gene_variant BRCA-UK 12 69205745 69205745 single base substitution C T intron_variant BRCA-UK 12 69205745 69205745 single base substitution C T upstream_gene_variant BRCA-UK 12 69208844 69208844 single base substitution G C intron_variant BRCA-UK 12 69214803 69214803 single base substitution G T downstream_gene_variant BRCA-UK 12 69214803 69214803 single base substitution G T intron_variant BRCA-UK 12 69214803 69214803 single base substitution G T upstream_gene_variant BRCA-US 12 69202261 69202261 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 12 69202261 69202261 single base substitution G C exon_variant BRCA-US 12 69202261 69202261 single base substitution G C missense_variant V2L 4G>C BRCA-US 12 69202261 69202261 single base substitution G C upstream_gene_variant BRCA-US 12 69233090 69233090 deletion of <=200bp C - 3_prime_UTR_variant BRCA-US 12 69233090 69233090 deletion of <=200bp C - downstream_gene_variant BRCA-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P117 BRCA-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P118 BRCA-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P143 BRCA-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P258 BRCA-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P264 BRCA-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P288 BRCA-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P319 BRCA-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P40 BRCA-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P65 BRCA-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P87 BRCA-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P92 BRCA-US 12 69233090 69233090 deletion of <=200bp C - intron_variant BRCA-US 12 69233090 69233090 deletion of <=200bp C - upstream_gene_variant BRCA-US 12 69233129 69233129 single base substitution C T 3_prime_UTR_variant BRCA-US 12 69233129 69233129 single base substitution C T downstream_gene_variant BRCA-US 12 69233129 69233129 single base substitution C T intron_variant BRCA-US 12 69233129 69233129 single base substitution C T missense_variant R100C 298C>T BRCA-US 12 69233129 69233129 single base substitution C T missense_variant R105C 313C>T BRCA-US 12 69233129 69233129 single base substitution C T missense_variant R131C 391C>T BRCA-US 12 69233129 69233129 single base substitution C T missense_variant R156C 466C>T BRCA-US 12 69233129 69233129 single base substitution C T missense_variant R271C 811C>T BRCA-US 12 69233129 69233129 single base substitution C T missense_variant R277C 829C>T BRCA-US 12 69233129 69233129 single base substitution C T missense_variant R301C 901C>T BRCA-US 12 69233129 69233129 single base substitution C T missense_variant R332C 994C>T BRCA-US 12 69233129 69233129 single base substitution C T missense_variant R53C 157C>T BRCA-US 12 69233129 69233129 single base substitution C T missense_variant R78C 232C>T BRCA-US 12 69233129 69233129 single base substitution C T upstream_gene_variant BTCA-JP 12 69208538 69208538 single base substitution A G intron_variant BTCA-JP 12 69229709 69229709 single base substitution C G 3_prime_UTR_variant BTCA-JP 12 69229709 69229709 single base substitution C G intron_variant BTCA-JP 12 69229709 69229709 single base substitution C G stop_gained S201* 602C>G BTCA-JP 12 69229709 69229709 single base substitution C G stop_gained S207* 620C>G BTCA-JP 12 69229709 69229709 single base substitution C G stop_gained S231* 692C>G BTCA-JP 12 69229709 69229709 single base substitution C G stop_gained S256* 767C>G BTCA-JP 12 69229709 69229709 single base substitution C G stop_gained S262* 785C>G BTCA-JP 12 69229709 69229709 single base substitution C G stop_gained S56* 167C>G BTCA-JP 12 69229709 69229709 single base substitution C G stop_gained S61* 182C>G BTCA-JP 12 69229709 69229709 single base substitution C G stop_gained S86* 257C>G BTCA-JP 12 69230562 69230562 single base substitution A G downstream_gene_variant BTCA-JP 12 69230562 69230562 single base substitution A G intron_variant CESC-US 12 69210688 69210688 single base substitution T G 3_prime_UTR_variant CESC-US 12 69210688 69210688 single base substitution T G exon_variant CESC-US 12 69210688 69210688 single base substitution T G intron_variant CESC-US 12 69210688 69210688 single base substitution T G missense_variant L116V 346T>G CESC-US 12 69210688 69210688 single base substitution T G missense_variant L60V 178T>G CESC-US 12 69210688 69210688 single base substitution T G missense_variant L85V 253T>G CESC-US 12 69210688 69210688 single base substitution T G missense_variant L91V 271T>G CLLE-ES 12 69203060 69203060 single base substitution A G exon_variant CLLE-ES 12 69203060 69203060 single base substitution A G synonymous_variant E18E 54A>G CLLE-ES 12 69203060 69203060 single base substitution A G synonymous_variant E23E 69A>G CLLE-ES 12 69203060 69203060 single base substitution A G synonymous_variant E29E 87A>G CLLE-ES 12 69203060 69203060 single base substitution A G upstream_gene_variant CLLE-ES 12 69203143 69203143 single base substitution A T intron_variant CLLE-ES 12 69203143 69203143 single base substitution A T upstream_gene_variant CLLE-ES 12 69237877 69237877 single base substitution T C 3_prime_UTR_variant CLLE-ES 12 69237877 69237877 single base substitution T C downstream_gene_variant CLLE-ES 12 69237877 69237877 single base substitution T C exon_variant CLLE-ES 12 69242305 69242305 single base substitution A G downstream_gene_variant COAD-US 12 69229705 69229705 single base substitution G A 3_prime_UTR_variant COAD-US 12 69229705 69229705 single base substitution G A intron_variant COAD-US 12 69229705 69229705 single base substitution G A missense_variant D200N 598G>A COAD-US 12 69229705 69229705 single base substitution G A missense_variant D206N 616G>A COAD-US 12 69229705 69229705 single base substitution G A missense_variant D230N 688G>A COAD-US 12 69229705 69229705 single base substitution G A missense_variant D255N 763G>A COAD-US 12 69229705 69229705 single base substitution G A missense_variant D261N 781G>A COAD-US 12 69229705 69229705 single base substitution G A missense_variant D55N 163G>A COAD-US 12 69229705 69229705 single base substitution G A missense_variant D60N 178G>A COAD-US 12 69229705 69229705 single base substitution G A missense_variant D85N 253G>A COAD-US 12 69233090 69233090 deletion of <=200bp C - 3_prime_UTR_variant COAD-US 12 69233090 69233090 deletion of <=200bp C - downstream_gene_variant COAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P117 COAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P118 COAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P143 COAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P258 COAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P264 COAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P288 COAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P319 COAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P40 COAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P65 COAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P87 COAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P92 COAD-US 12 69233090 69233090 deletion of <=200bp C - intron_variant COAD-US 12 69233090 69233090 deletion of <=200bp C - upstream_gene_variant COAD-US 12 69233162 69233162 single base substitution G A 3_prime_UTR_variant COAD-US 12 69233162 69233162 single base substitution G A downstream_gene_variant COAD-US 12 69233162 69233162 single base substitution G A intron_variant COAD-US 12 69233162 69233162 single base substitution G A missense_variant D111N 331G>A COAD-US 12 69233162 69233162 single base substitution G A missense_variant D116N 346G>A COAD-US 12 69233162 69233162 single base substitution G A missense_variant D142N 424G>A COAD-US 12 69233162 69233162 single base substitution G A missense_variant D167N 499G>A COAD-US 12 69233162 69233162 single base substitution G A missense_variant D282N 844G>A COAD-US 12 69233162 69233162 single base substitution G A missense_variant D288N 862G>A COAD-US 12 69233162 69233162 single base substitution G A missense_variant D312N 934G>A COAD-US 12 69233162 69233162 single base substitution G A missense_variant D343N 1027G>A COAD-US 12 69233162 69233162 single base substitution G A missense_variant D64N 190G>A COAD-US 12 69233162 69233162 single base substitution G A missense_variant D89N 265G>A COAD-US 12 69233162 69233162 single base substitution G A upstream_gene_variant COCA-CN 12 69202164 69202164 single base substitution A G 5_prime_UTR_variant COCA-CN 12 69202164 69202164 single base substitution A G exon_variant COCA-CN 12 69202164 69202164 single base substitution A G upstream_gene_variant COCA-CN 12 69222464 69222464 single base substitution C G downstream_gene_variant COCA-CN 12 69222464 69222464 single base substitution C G intron_variant COCA-CN 12 69232932 69232932 single base substitution G A downstream_gene_variant COCA-CN 12 69232932 69232932 single base substitution G A intron_variant COCA-CN 12 69232932 69232932 single base substitution G A upstream_gene_variant COCA-CN 12 69233746 69233746 single base substitution C A 3_prime_UTR_variant COCA-CN 12 69233746 69233746 single base substitution C A downstream_gene_variant COCA-CN 12 69233746 69233746 single base substitution C A upstream_gene_variant COCA-CN 12 69239722 69239722 single base substitution A C downstream_gene_variant ESAD-UK 12 69197536 69197536 single base substitution T C upstream_gene_variant ESAD-UK 12 69198175 69198175 single base substitution C A upstream_gene_variant ESAD-UK 12 69198201 69198201 single base substitution C T upstream_gene_variant ESAD-UK 12 69198918 69198918 single base substitution C A upstream_gene_variant ESAD-UK 12 69200230 69200230 single base substitution A G upstream_gene_variant ESAD-UK 12 69201646 69201646 single base substitution G C upstream_gene_variant ESAD-UK 12 69201878 69201878 single base substitution G A upstream_gene_variant ESAD-UK 12 69202066 69202066 single base substitution C G 5_prime_UTR_variant ESAD-UK 12 69202066 69202066 single base substitution C G exon_variant ESAD-UK 12 69202066 69202066 single base substitution C G upstream_gene_variant ESAD-UK 12 69202690 69202690 single base substitution T G intron_variant ESAD-UK 12 69202690 69202690 single base substitution T G upstream_gene_variant ESAD-UK 12 69207838 69207838 single base substitution T G intron_variant ESAD-UK 12 69207859 69207859 single base substitution G T intron_variant ESAD-UK 12 69208344 69208344 single base substitution T C intron_variant ESAD-UK 12 69213310 69213310 single base substitution T C downstream_gene_variant ESAD-UK 12 69213310 69213310 single base substitution T C intron_variant ESAD-UK 12 69213310 69213310 single base substitution T C upstream_gene_variant ESAD-UK 12 69218518 69218518 single base substitution T A downstream_gene_variant ESAD-UK 12 69218518 69218518 single base substitution T A exon_variant ESAD-UK 12 69218518 69218518 single base substitution T A intron_variant ESAD-UK 12 69218825 69218825 insertion of <=200bp - A downstream_gene_variant ESAD-UK 12 69218825 69218825 insertion of <=200bp - A intron_variant ESAD-UK 12 69219050 69219050 single base substitution T G downstream_gene_variant ESAD-UK 12 69219050 69219050 single base substitution T G intron_variant ESAD-UK 12 69223861 69223861 single base substitution T G downstream_gene_variant ESAD-UK 12 69223861 69223861 single base substitution T G intron_variant ESAD-UK 12 69224140 69224140 single base substitution C T downstream_gene_variant ESAD-UK 12 69224140 69224140 single base substitution C T intron_variant ESAD-UK 12 69225002 69225002 single base substitution G A downstream_gene_variant ESAD-UK 12 69225002 69225002 single base substitution G A intron_variant ESAD-UK 12 69225034 69225034 single base substitution C G downstream_gene_variant ESAD-UK 12 69225034 69225034 single base substitution C G intron_variant ESAD-UK 12 69227580 69227580 single base substitution C G downstream_gene_variant ESAD-UK 12 69227580 69227580 single base substitution C G intron_variant ESAD-UK 12 69231500 69231514 deletion of <=200bp TTAACACTTAAATGT - downstream_gene_variant ESAD-UK 12 69231500 69231514 deletion of <=200bp TTAACACTTAAATGT - intron_variant ESAD-UK 12 69231500 69231514 deletion of <=200bp TTAACACTTAAATGT - upstream_gene_variant ESAD-UK 12 69233001 69233001 single base substitution A C downstream_gene_variant ESAD-UK 12 69233001 69233001 single base substitution A C intron_variant ESAD-UK 12 69233001 69233001 single base substitution A C upstream_gene_variant ESAD-UK 12 69233004 69233004 single base substitution G T downstream_gene_variant ESAD-UK 12 69233004 69233004 single base substitution G T intron_variant ESAD-UK 12 69233004 69233004 single base substitution G T upstream_gene_variant ESAD-UK 12 69238212 69238212 single base substitution G A 3_prime_UTR_variant ESAD-UK 12 69238212 69238212 single base substitution G A downstream_gene_variant ESAD-UK 12 69238709 69238709 single base substitution C T 3_prime_UTR_variant ESAD-UK 12 69238709 69238709 single base substitution C T downstream_gene_variant ESAD-UK 12 69242266 69242266 insertion of <=200bp - C downstream_gene_variant ESAD-UK 12 69242959 69242959 single base substitution C T downstream_gene_variant ESAD-UK 12 69243181 69243182 deletion of <=200bp TG - downstream_gene_variant GBM-US 12 69210697 69210697 single base substitution G A 3_prime_UTR_variant GBM-US 12 69210697 69210697 single base substitution G A exon_variant GBM-US 12 69210697 69210697 single base substitution G A intron_variant GBM-US 12 69210697 69210697 single base substitution G A missense_variant V119M 355G>A GBM-US 12 69210697 69210697 single base substitution G A missense_variant V63M 187G>A GBM-US 12 69210697 69210697 single base substitution G A missense_variant V88M 262G>A GBM-US 12 69210697 69210697 single base substitution G A missense_variant V94M 280G>A GBM-US 12 69229607 69229607 single base substitution A G intron_variant GBM-US 12 69229607 69229607 single base substitution A G splice_acceptor_variant LAML-KR 12 69204891 69204891 single base substitution T C intron_variant LAML-KR 12 69204891 69204891 single base substitution T C upstream_gene_variant LGG-US 12 69229630 69229630 single base substitution G C 3_prime_UTR_variant LGG-US 12 69229630 69229630 single base substitution G C intron_variant LGG-US 12 69229630 69229630 single base substitution G C missense_variant E175Q 523G>C LGG-US 12 69229630 69229630 single base substitution G C missense_variant E181Q 541G>C LGG-US 12 69229630 69229630 single base substitution G C missense_variant E205Q 613G>C LGG-US 12 69229630 69229630 single base substitution G C missense_variant E230Q 688G>C LGG-US 12 69229630 69229630 single base substitution G C missense_variant E236Q 706G>C LGG-US 12 69229630 69229630 single base substitution G C missense_variant E30Q 88G>C LGG-US 12 69229630 69229630 single base substitution G C missense_variant E35Q 103G>C LGG-US 12 69229630 69229630 single base substitution G C missense_variant E60Q 178G>C LGG-US 12 69229630 69229630 single base substitution G C splice_region_variant LGG-US 12 69230521 69230521 single base substitution T C 3_prime_UTR_variant LGG-US 12 69230521 69230521 single base substitution T C downstream_gene_variant LGG-US 12 69230521 69230521 single base substitution T C intron_variant LGG-US 12 69230521 69230521 single base substitution T C missense_variant S103P 307T>C LGG-US 12 69230521 69230521 single base substitution T C missense_variant S128P 382T>C LGG-US 12 69230521 69230521 single base substitution T C missense_variant S243P 727T>C LGG-US 12 69230521 69230521 single base substitution T C missense_variant S249P 745T>C LGG-US 12 69230521 69230521 single base substitution T C missense_variant S251P 751T>C LGG-US 12 69230521 69230521 single base substitution T C missense_variant S273P 817T>C LGG-US 12 69230521 69230521 single base substitution T C missense_variant S304P 910T>C LICA-FR 12 69197719 69197719 insertion of <=200bp - A upstream_gene_variant LICA-FR 12 69214109 69214109 single base substitution A G 3_prime_UTR_variant LICA-FR 12 69214109 69214109 single base substitution A G downstream_gene_variant LICA-FR 12 69214109 69214109 single base substitution A G exon_variant LICA-FR 12 69214109 69214109 single base substitution A G intron_variant LICA-FR 12 69214109 69214109 single base substitution A G missense_variant I105V 313A>G LICA-FR 12 69214109 69214109 single base substitution A G missense_variant I130V 388A>G LICA-FR 12 69214109 69214109 single base substitution A G missense_variant I74V 220A>G LICA-FR 12 69214109 69214109 single base substitution A G missense_variant I99V 295A>G LICA-FR 12 69214109 69214109 single base substitution A G missense_variant N24S 71A>G LICA-FR 12 69214109 69214109 single base substitution A G upstream_gene_variant LICA-FR 12 69221756 69221756 single base substitution C T downstream_gene_variant LICA-FR 12 69221756 69221756 single base substitution C T intron_variant LICA-FR 12 69222641 69222641 single base substitution T A 3_prime_UTR_variant LICA-FR 12 69222641 69222641 single base substitution T A downstream_gene_variant LICA-FR 12 69222641 69222641 single base substitution T A exon_variant LICA-FR 12 69222641 69222641 single base substitution T A intron_variant LICA-FR 12 69222641 69222641 single base substitution T A missense_variant L144Q 431T>A LICA-FR 12 69222641 69222641 single base substitution T A missense_variant L150Q 449T>A LICA-FR 12 69222641 69222641 single base substitution T A missense_variant L174Q 521T>A LICA-FR 12 69222641 69222641 single base substitution T A missense_variant L199Q 596T>A LICA-FR 12 69222641 69222641 single base substitution T A missense_variant L205Q 614T>A LICA-FR 12 69224667 69224667 single base substitution G A downstream_gene_variant LICA-FR 12 69224667 69224667 single base substitution G A intron_variant LICA-FR 12 69233426 69233426 single base substitution A T 3_prime_UTR_variant LICA-FR 12 69233426 69233426 single base substitution A T downstream_gene_variant LICA-FR 12 69233426 69233426 single base substitution A T intron_variant LICA-FR 12 69233426 69233426 single base substitution A T missense_variant S152C 454A>T LICA-FR 12 69233426 69233426 single base substitution A T missense_variant S177C 529A>T LICA-FR 12 69233426 69233426 single base substitution A T missense_variant S199C 595A>T LICA-FR 12 69233426 69233426 single base substitution A T missense_variant S204C 610A>T LICA-FR 12 69233426 69233426 single base substitution A T missense_variant S230C 688A>T LICA-FR 12 69233426 69233426 single base substitution A T missense_variant S255C 763A>T LICA-FR 12 69233426 69233426 single base substitution A T missense_variant S370C 1108A>T LICA-FR 12 69233426 69233426 single base substitution A T missense_variant S376C 1126A>T LICA-FR 12 69233426 69233426 single base substitution A T missense_variant S400C 1198A>T LICA-FR 12 69233426 69233426 single base substitution A T missense_variant S431C 1291A>T LICA-FR 12 69233426 69233426 single base substitution A T missense_variant S64C 190A>T LICA-FR 12 69233426 69233426 single base substitution A T upstream_gene_variant LINC-JP 12 69202843 69202843 single base substitution G A 5_prime_UTR_variant LINC-JP 12 69202843 69202843 single base substitution G A intron_variant LINC-JP 12 69202843 69202843 single base substitution G A upstream_gene_variant LINC-JP 12 69206022 69206022 single base substitution A G intron_variant LINC-JP 12 69206022 69206022 single base substitution A G upstream_gene_variant LINC-JP 12 69209486 69209486 single base substitution G A intron_variant LINC-JP 12 69209486 69209486 single base substitution G A missense_variant V79M 235G>A LINC-JP 12 69217991 69217991 single base substitution A G downstream_gene_variant LINC-JP 12 69217991 69217991 single base substitution A G exon_variant LINC-JP 12 69217991 69217991 single base substitution A G intron_variant LINC-JP 12 69222593 69222593 single base substitution G A 3_prime_UTR_variant LINC-JP 12 69222593 69222593 single base substitution G A downstream_gene_variant LINC-JP 12 69222593 69222593 single base substitution G A exon_variant LINC-JP 12 69222593 69222593 single base substitution G A intron_variant LINC-JP 12 69222593 69222593 single base substitution G A missense_variant R128H 383G>A LINC-JP 12 69222593 69222593 single base substitution G A missense_variant R134H 401G>A LINC-JP 12 69222593 69222593 single base substitution G A missense_variant R158H 473G>A LINC-JP 12 69222593 69222593 single base substitution G A missense_variant R183H 548G>A LINC-JP 12 69222593 69222593 single base substitution G A missense_variant R189H 566G>A LINC-JP 12 69222593 69222593 single base substitution G A missense_variant R214H 641G>A LINC-JP 12 69229734 69229734 single base substitution A G 3_prime_UTR_variant LINC-JP 12 69229734 69229734 single base substitution A G downstream_gene_variant LINC-JP 12 69229734 69229734 single base substitution A G intron_variant LINC-JP 12 69229734 69229734 single base substitution A G synonymous_variant E209E 627A>G LINC-JP 12 69229734 69229734 single base substitution A G synonymous_variant E215E 645A>G LINC-JP 12 69229734 69229734 single base substitution A G synonymous_variant E239E 717A>G LINC-JP 12 69229734 69229734 single base substitution A G synonymous_variant E270E 810A>G LINC-JP 12 69229734 69229734 single base substitution A G synonymous_variant E64E 192A>G LINC-JP 12 69229734 69229734 single base substitution A G synonymous_variant E69E 207A>G LINC-JP 12 69229734 69229734 single base substitution A G synonymous_variant E94E 282A>G LINC-JP 12 69238975 69238975 single base substitution T G 3_prime_UTR_variant LINC-JP 12 69238975 69238975 single base substitution T G downstream_gene_variant LINC-JP 12 69242266 69242266 insertion of <=200bp - C downstream_gene_variant LIRI-JP 12 69199359 69199359 single base substitution A C upstream_gene_variant LIRI-JP 12 69200776 69200815 deletion of <=200bp AGAAGGGAAGGATATAACTTTATAAAAAAAAAAAAGCTGC - upstream_gene_variant LIRI-JP 12 69200980 69200980 single base substitution T G upstream_gene_variant LIRI-JP 12 69203273 69203273 single base substitution T C intron_variant LIRI-JP 12 69203273 69203273 single base substitution T C upstream_gene_variant LIRI-JP 12 69203620 69203620 single base substitution A G intron_variant LIRI-JP 12 69203620 69203620 single base substitution A G upstream_gene_variant LIRI-JP 12 69206777 69206777 single base substitution A G intron_variant LIRI-JP 12 69206777 69206777 single base substitution A G upstream_gene_variant LIRI-JP 12 69207103 69207103 single base substitution A C intron_variant LIRI-JP 12 69207103 69207103 single base substitution A C upstream_gene_variant LIRI-JP 12 69208686 69208686 single base substitution G A intron_variant LIRI-JP 12 69211300 69211300 single base substitution C T downstream_gene_variant LIRI-JP 12 69211300 69211300 single base substitution C T intron_variant LIRI-JP 12 69212531 69212531 single base substitution A G downstream_gene_variant LIRI-JP 12 69212531 69212531 single base substitution A G intron_variant LIRI-JP 12 69213621 69213621 single base substitution A G downstream_gene_variant LIRI-JP 12 69213621 69213621 single base substitution A G intron_variant LIRI-JP 12 69213621 69213621 single base substitution A G upstream_gene_variant LIRI-JP 12 69216007 69216007 insertion of <=200bp - T downstream_gene_variant LIRI-JP 12 69216007 69216007 insertion of <=200bp - T intron_variant LIRI-JP 12 69216007 69216007 insertion of <=200bp - T upstream_gene_variant LIRI-JP 12 69216286 69216286 single base substitution A C downstream_gene_variant LIRI-JP 12 69216286 69216286 single base substitution A C intron_variant LIRI-JP 12 69216286 69216286 single base substitution A C upstream_gene_variant LIRI-JP 12 69216666 69216666 single base substitution G A downstream_gene_variant LIRI-JP 12 69216666 69216666 single base substitution G A intron_variant LIRI-JP 12 69216666 69216666 single base substitution G A upstream_gene_variant LIRI-JP 12 69217491 69217491 single base substitution C T downstream_gene_variant LIRI-JP 12 69217491 69217491 single base substitution C T intron_variant LIRI-JP 12 69217491 69217491 single base substitution C T upstream_gene_variant LIRI-JP 12 69218182 69218182 single base substitution G A 3_prime_UTR_variant LIRI-JP 12 69218182 69218182 single base substitution G A downstream_gene_variant LIRI-JP 12 69218182 69218182 single base substitution G A exon_variant LIRI-JP 12 69218182 69218182 single base substitution G A intron_variant LIRI-JP 12 69218182 69218182 single base substitution G A missense_variant C102Y 305G>A LIRI-JP 12 69218182 69218182 single base substitution G A missense_variant C127Y 380G>A LIRI-JP 12 69218182 69218182 single base substitution G A missense_variant C133Y 398G>A LIRI-JP 12 69218182 69218182 single base substitution G A missense_variant C158Y 473G>A LIRI-JP 12 69219589 69219589 single base substitution G A downstream_gene_variant LIRI-JP 12 69219589 69219589 single base substitution G A intron_variant LIRI-JP 12 69222088 69222088 single base substitution A G downstream_gene_variant LIRI-JP 12 69222088 69222088 single base substitution A G intron_variant LIRI-JP 12 69223294 69223294 single base substitution T A downstream_gene_variant LIRI-JP 12 69223294 69223294 single base substitution T A intron_variant LIRI-JP 12 69223583 69223583 single base substitution G A downstream_gene_variant LIRI-JP 12 69223583 69223583 single base substitution G A intron_variant LIRI-JP 12 69223745 69223745 single base substitution A T downstream_gene_variant LIRI-JP 12 69223745 69223745 single base substitution A T intron_variant LIRI-JP 12 69226482 69226482 single base substitution A C downstream_gene_variant LIRI-JP 12 69226482 69226482 single base substitution A C intron_variant LIRI-JP 12 69227524 69227524 single base substitution A G downstream_gene_variant LIRI-JP 12 69227524 69227524 single base substitution A G intron_variant LIRI-JP 12 69230103 69230103 single base substitution A G downstream_gene_variant LIRI-JP 12 69230103 69230103 single base substitution A G intron_variant LIRI-JP 12 69230390 69230390 single base substitution G T downstream_gene_variant LIRI-JP 12 69230390 69230390 single base substitution G T intron_variant LIRI-JP 12 69230595 69230595 single base substitution C G downstream_gene_variant LIRI-JP 12 69230595 69230595 single base substitution C G intron_variant LIRI-JP 12 69230657 69230657 single base substitution A T downstream_gene_variant LIRI-JP 12 69230657 69230657 single base substitution A T intron_variant LIRI-JP 12 69231530 69231530 single base substitution A G downstream_gene_variant LIRI-JP 12 69231530 69231530 single base substitution A G intron_variant LIRI-JP 12 69231530 69231530 single base substitution A G upstream_gene_variant LIRI-JP 12 69232889 69232889 single base substitution A G downstream_gene_variant LIRI-JP 12 69232889 69232889 single base substitution A G intron_variant LIRI-JP 12 69232889 69232889 single base substitution A G upstream_gene_variant LIRI-JP 12 69233950 69233950 single base substitution A T 3_prime_UTR_variant LIRI-JP 12 69233950 69233950 single base substitution A T downstream_gene_variant LIRI-JP 12 69233950 69233950 single base substitution A T upstream_gene_variant LIRI-JP 12 69235783 69235783 single base substitution A C 3_prime_UTR_variant LIRI-JP 12 69235783 69235783 single base substitution A C downstream_gene_variant LIRI-JP 12 69235783 69235783 single base substitution A C upstream_gene_variant LIRI-JP 12 69235997 69235997 single base substitution C A 3_prime_UTR_variant LIRI-JP 12 69235997 69235997 single base substitution C A downstream_gene_variant LIRI-JP 12 69235997 69235997 single base substitution C A upstream_gene_variant LIRI-JP 12 69236323 69236323 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 69236323 69236323 single base substitution A G downstream_gene_variant LIRI-JP 12 69236323 69236323 single base substitution A G intron_variant LIRI-JP 12 69236323 69236323 single base substitution A G upstream_gene_variant LIRI-JP 12 69236640 69236640 single base substitution T G 3_prime_UTR_variant LIRI-JP 12 69236640 69236640 single base substitution T G downstream_gene_variant LIRI-JP 12 69236640 69236640 single base substitution T G intron_variant LIRI-JP 12 69236640 69236640 single base substitution T G upstream_gene_variant LIRI-JP 12 69237118 69237118 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 69237118 69237118 single base substitution A G downstream_gene_variant LIRI-JP 12 69237118 69237118 single base substitution A G intron_variant LIRI-JP 12 69237118 69237118 single base substitution A G upstream_gene_variant LIRI-JP 12 69237861 69237861 single base substitution T G 3_prime_UTR_variant LIRI-JP 12 69237861 69237861 single base substitution T G downstream_gene_variant LIRI-JP 12 69237861 69237861 single base substitution T G exon_variant LIRI-JP 12 69240328 69240328 single base substitution A G downstream_gene_variant LIRI-JP 12 69240983 69240983 single base substitution T C downstream_gene_variant LIRI-JP 12 69241588 69241588 single base substitution T G downstream_gene_variant LIRI-JP 12 69242257 69242257 single base substitution T G downstream_gene_variant LUSC-CN 12 69238045 69238045 single base substitution A G 3_prime_UTR_variant LUSC-CN 12 69238045 69238045 single base substitution A G downstream_gene_variant LUSC-KR 12 69198643 69198643 single base substitution G T upstream_gene_variant LUSC-KR 12 69199385 69199385 single base substitution G C upstream_gene_variant LUSC-KR 12 69204324 69204324 single base substitution C G intron_variant LUSC-KR 12 69204324 69204324 single base substitution C G upstream_gene_variant LUSC-KR 12 69207891 69207891 single base substitution G C intron_variant LUSC-KR 12 69217609 69217609 single base substitution G A downstream_gene_variant LUSC-KR 12 69217609 69217609 single base substitution G A intron_variant LUSC-KR 12 69217609 69217609 single base substitution G A upstream_gene_variant LUSC-KR 12 69220195 69220195 single base substitution G A downstream_gene_variant LUSC-KR 12 69220195 69220195 single base substitution G A intron_variant LUSC-KR 12 69221818 69221818 single base substitution C G downstream_gene_variant LUSC-KR 12 69221818 69221818 single base substitution C G intron_variant LUSC-KR 12 69222464 69222464 single base substitution C G downstream_gene_variant LUSC-KR 12 69222464 69222464 single base substitution C G intron_variant LUSC-KR 12 69223590 69223590 single base substitution G T downstream_gene_variant LUSC-KR 12 69223590 69223590 single base substitution G T intron_variant LUSC-KR 12 69232228 69232228 single base substitution G A downstream_gene_variant LUSC-KR 12 69232228 69232228 single base substitution G A intron_variant LUSC-KR 12 69232228 69232228 single base substitution G A upstream_gene_variant LUSC-KR 12 69233304 69233304 single base substitution A G 3_prime_UTR_variant LUSC-KR 12 69233304 69233304 single base substitution A G downstream_gene_variant LUSC-KR 12 69233304 69233304 single base substitution A G intron_variant LUSC-KR 12 69233304 69233304 single base substitution A G missense_variant Q111R 332A>G LUSC-KR 12 69233304 69233304 single base substitution A G missense_variant Q136R 407A>G LUSC-KR 12 69233304 69233304 single base substitution A G missense_variant Q158R 473A>G LUSC-KR 12 69233304 69233304 single base substitution A G missense_variant Q163R 488A>G LUSC-KR 12 69233304 69233304 single base substitution A G missense_variant Q189R 566A>G LUSC-KR 12 69233304 69233304 single base substitution A G missense_variant Q214R 641A>G LUSC-KR 12 69233304 69233304 single base substitution A G missense_variant Q329R 986A>G LUSC-KR 12 69233304 69233304 single base substitution A G missense_variant Q335R 1004A>G LUSC-KR 12 69233304 69233304 single base substitution A G missense_variant Q359R 1076A>G LUSC-KR 12 69233304 69233304 single base substitution A G missense_variant Q390R 1169A>G LUSC-KR 12 69233304 69233304 single base substitution A G upstream_gene_variant LUSC-KR 12 69235406 69235406 single base substitution G A 3_prime_UTR_variant LUSC-KR 12 69235406 69235406 single base substitution G A downstream_gene_variant LUSC-KR 12 69235406 69235406 single base substitution G A upstream_gene_variant LUSC-KR 12 69238353 69238353 single base substitution A C 3_prime_UTR_variant LUSC-KR 12 69238353 69238353 single base substitution A C downstream_gene_variant LUSC-KR 12 69242318 69242318 single base substitution G C downstream_gene_variant LUSC-KR 12 69243201 69243201 single base substitution C T downstream_gene_variant LUSC-US 12 69218345 69218345 single base substitution A C 3_prime_UTR_variant LUSC-US 12 69218345 69218345 single base substitution A C downstream_gene_variant LUSC-US 12 69218345 69218345 single base substitution A C exon_variant LUSC-US 12 69218345 69218345 single base substitution A C intron_variant LUSC-US 12 69218345 69218345 single base substitution A C missense_variant Q115P 344A>C LUSC-US 12 69218345 69218345 single base substitution A C missense_variant Q140P 419A>C LUSC-US 12 69218345 69218345 single base substitution A C missense_variant Q146P 437A>C LUSC-US 12 69218345 69218345 single base substitution A C missense_variant Q171P 512A>C LUSC-US 12 69233474 69233474 single base substitution T A 3_prime_UTR_variant LUSC-US 12 69233474 69233474 single base substitution T A downstream_gene_variant LUSC-US 12 69233474 69233474 single base substitution T A intron_variant LUSC-US 12 69233474 69233474 single base substitution T A missense_variant C168S 502T>A LUSC-US 12 69233474 69233474 single base substitution T A missense_variant C193S 577T>A LUSC-US 12 69233474 69233474 single base substitution T A missense_variant C215S 643T>A LUSC-US 12 69233474 69233474 single base substitution T A missense_variant C220S 658T>A LUSC-US 12 69233474 69233474 single base substitution T A missense_variant C246S 736T>A LUSC-US 12 69233474 69233474 single base substitution T A missense_variant C271S 811T>A LUSC-US 12 69233474 69233474 single base substitution T A missense_variant C386S 1156T>A LUSC-US 12 69233474 69233474 single base substitution T A missense_variant C392S 1174T>A LUSC-US 12 69233474 69233474 single base substitution T A missense_variant C416S 1246T>A LUSC-US 12 69233474 69233474 single base substitution T A missense_variant C447S 1339T>A LUSC-US 12 69233474 69233474 single base substitution T A missense_variant C80S 238T>A LUSC-US 12 69233474 69233474 single base substitution T A upstream_gene_variant MALY-DE 12 69202032 69202032 single base substitution G A 5_prime_UTR_variant MALY-DE 12 69202032 69202032 single base substitution G A upstream_gene_variant MALY-DE 12 69202101 69202101 single base substitution G C 5_prime_UTR_variant MALY-DE 12 69202101 69202101 single base substitution G C exon_variant MALY-DE 12 69202101 69202101 single base substitution G C upstream_gene_variant MALY-DE 12 69202783 69202783 single base substitution T C intron_variant MALY-DE 12 69202783 69202783 single base substitution T C upstream_gene_variant MALY-DE 12 69202934 69202934 single base substitution T C intron_variant MALY-DE 12 69202934 69202934 single base substitution T C upstream_gene_variant MALY-DE 12 69202943 69202943 single base substitution G A intron_variant MALY-DE 12 69202943 69202943 single base substitution G A upstream_gene_variant MALY-DE 12 69203135 69203135 single base substitution T A intron_variant MALY-DE 12 69203135 69203135 single base substitution T A upstream_gene_variant MALY-DE 12 69203178 69203178 single base substitution T A intron_variant MALY-DE 12 69203178 69203178 single base substitution T A upstream_gene_variant MALY-DE 12 69216186 69216186 single base substitution A T downstream_gene_variant MALY-DE 12 69216186 69216186 single base substitution A T intron_variant MALY-DE 12 69216186 69216186 single base substitution A T upstream_gene_variant MALY-DE 12 69222641 69222641 single base substitution T C 3_prime_UTR_variant MALY-DE 12 69222641 69222641 single base substitution T C downstream_gene_variant MALY-DE 12 69222641 69222641 single base substitution T C exon_variant MALY-DE 12 69222641 69222641 single base substitution T C intron_variant MALY-DE 12 69222641 69222641 single base substitution T C missense_variant L144P 431T>C MALY-DE 12 69222641 69222641 single base substitution T C missense_variant L150P 449T>C MALY-DE 12 69222641 69222641 single base substitution T C missense_variant L174P 521T>C MALY-DE 12 69222641 69222641 single base substitution T C missense_variant L199P 596T>C MALY-DE 12 69222641 69222641 single base substitution T C missense_variant L205P 614T>C MALY-DE 12 69235003 69235003 single base substitution C T 3_prime_UTR_variant MALY-DE 12 69235003 69235003 single base substitution C T downstream_gene_variant MALY-DE 12 69235003 69235003 single base substitution C T upstream_gene_variant MALY-DE 12 69236731 69236731 single base substitution A T 3_prime_UTR_variant MALY-DE 12 69236731 69236731 single base substitution A T downstream_gene_variant MALY-DE 12 69236731 69236731 single base substitution A T intron_variant MALY-DE 12 69236731 69236731 single base substitution A T upstream_gene_variant MALY-DE 12 69237076 69237077 deletion of <=200bp GA - 3_prime_UTR_variant MALY-DE 12 69237076 69237077 deletion of <=200bp GA - downstream_gene_variant MALY-DE 12 69237076 69237077 deletion of <=200bp GA - intron_variant MALY-DE 12 69237076 69237077 deletion of <=200bp GA - upstream_gene_variant MALY-DE 12 69237770 69237770 single base substitution T G 3_prime_UTR_variant MALY-DE 12 69237770 69237770 single base substitution T G downstream_gene_variant MALY-DE 12 69237770 69237770 single base substitution T G exon_variant MALY-DE 12 69239280 69239280 single base substitution C T downstream_gene_variant MALY-DE 12 69241865 69241865 single base substitution C T downstream_gene_variant MALY-DE 12 69242836 69242836 single base substitution T C downstream_gene_variant MALY-DE 12 69243786 69243786 single base substitution G T downstream_gene_variant MELA-AU 12 69197256 69197256 single base substitution C T upstream_gene_variant MELA-AU 12 69197265 69197265 single base substitution T C upstream_gene_variant MELA-AU 12 69197511 69197511 single base substitution G A upstream_gene_variant MELA-AU 12 69197668 69197668 single base substitution G A upstream_gene_variant MELA-AU 12 69197673 69197673 single base substitution C T upstream_gene_variant MELA-AU 12 69198040 69198040 single base substitution G T upstream_gene_variant MELA-AU 12 69198510 69198510 single base substitution C A upstream_gene_variant MELA-AU 12 69199481 69199481 single base substitution A G upstream_gene_variant MELA-AU 12 69200857 69200857 single base substitution A T upstream_gene_variant MELA-AU 12 69203138 69203138 single base substitution C T intron_variant MELA-AU 12 69203138 69203138 single base substitution C T upstream_gene_variant MELA-AU 12 69203469 69203469 single base substitution C T intron_variant MELA-AU 12 69203469 69203469 single base substitution C T upstream_gene_variant MELA-AU 12 69204326 69204326 single base substitution C T intron_variant MELA-AU 12 69204326 69204326 single base substitution C T upstream_gene_variant MELA-AU 12 69204344 69204344 single base substitution C T intron_variant MELA-AU 12 69204344 69204344 single base substitution C T upstream_gene_variant MELA-AU 12 69204351 69204351 single base substitution C T intron_variant MELA-AU 12 69204351 69204351 single base substitution C T upstream_gene_variant MELA-AU 12 69205649 69205650 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 69205649 69205650 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 69205774 69205774 single base substitution C T intron_variant MELA-AU 12 69205774 69205774 single base substitution C T upstream_gene_variant MELA-AU 12 69205859 69205859 single base substitution C T intron_variant MELA-AU 12 69205859 69205859 single base substitution C T upstream_gene_variant MELA-AU 12 69207171 69207171 single base substitution C T intron_variant MELA-AU 12 69207171 69207171 single base substitution C T upstream_gene_variant MELA-AU 12 69207243 69207243 single base substitution C T intron_variant MELA-AU 12 69207243 69207243 single base substitution C T upstream_gene_variant MELA-AU 12 69207272 69207272 single base substitution T A intron_variant MELA-AU 12 69207272 69207272 single base substitution T A upstream_gene_variant MELA-AU 12 69207509 69207509 single base substitution T A intron_variant MELA-AU 12 69208290 69208290 single base substitution G A intron_variant MELA-AU 12 69208486 69208486 single base substitution C T intron_variant MELA-AU 12 69208861 69208861 single base substitution C A intron_variant MELA-AU 12 69208886 69208886 single base substitution C T intron_variant MELA-AU 12 69210431 69210432 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 69210644 69210644 single base substitution A G 3_prime_UTR_variant MELA-AU 12 69210644 69210644 single base substitution A G exon_variant MELA-AU 12 69210644 69210644 single base substitution A G intron_variant MELA-AU 12 69210644 69210644 single base substitution A G missense_variant K101R 302A>G MELA-AU 12 69210644 69210644 single base substitution A G missense_variant K45R 134A>G MELA-AU 12 69210644 69210644 single base substitution A G missense_variant K70R 209A>G MELA-AU 12 69210644 69210644 single base substitution A G missense_variant K76R 227A>G MELA-AU 12 69210796 69210796 single base substitution C T exon_variant MELA-AU 12 69210796 69210796 single base substitution C T intron_variant MELA-AU 12 69211688 69211688 single base substitution C G downstream_gene_variant MELA-AU 12 69211688 69211688 single base substitution C G intron_variant MELA-AU 12 69211815 69211815 single base substitution C T downstream_gene_variant MELA-AU 12 69211815 69211815 single base substitution C T intron_variant MELA-AU 12 69211917 69211917 single base substitution C T downstream_gene_variant MELA-AU 12 69211917 69211917 single base substitution C T intron_variant MELA-AU 12 69214469 69214469 single base substitution G T downstream_gene_variant MELA-AU 12 69214469 69214469 single base substitution G T intron_variant MELA-AU 12 69214469 69214469 single base substitution G T upstream_gene_variant MELA-AU 12 69214583 69214583 single base substitution C T downstream_gene_variant MELA-AU 12 69214583 69214583 single base substitution C T intron_variant MELA-AU 12 69214583 69214583 single base substitution C T upstream_gene_variant MELA-AU 12 69215965 69215965 single base substitution C T downstream_gene_variant MELA-AU 12 69215965 69215965 single base substitution C T intron_variant MELA-AU 12 69215965 69215965 single base substitution C T upstream_gene_variant MELA-AU 12 69216190 69216190 single base substitution C T downstream_gene_variant MELA-AU 12 69216190 69216190 single base substitution C T intron_variant MELA-AU 12 69216190 69216190 single base substitution C T upstream_gene_variant MELA-AU 12 69216252 69216252 single base substitution T C downstream_gene_variant MELA-AU 12 69216252 69216252 single base substitution T C intron_variant MELA-AU 12 69216252 69216252 single base substitution T C upstream_gene_variant MELA-AU 12 69216721 69216721 single base substitution A G downstream_gene_variant MELA-AU 12 69216721 69216721 single base substitution A G intron_variant MELA-AU 12 69216721 69216721 single base substitution A G upstream_gene_variant MELA-AU 12 69216929 69216929 single base substitution A T downstream_gene_variant MELA-AU 12 69216929 69216929 single base substitution A T intron_variant MELA-AU 12 69216929 69216929 single base substitution A T upstream_gene_variant MELA-AU 12 69217405 69217405 single base substitution C T downstream_gene_variant MELA-AU 12 69217405 69217405 single base substitution C T intron_variant MELA-AU 12 69217405 69217405 single base substitution C T upstream_gene_variant MELA-AU 12 69217470 69217470 single base substitution C T downstream_gene_variant MELA-AU 12 69217470 69217470 single base substitution C T intron_variant MELA-AU 12 69217470 69217470 single base substitution C T upstream_gene_variant MELA-AU 12 69217861 69217861 single base substitution C T downstream_gene_variant MELA-AU 12 69217861 69217861 single base substitution C T intron_variant MELA-AU 12 69217861 69217861 single base substitution C T upstream_gene_variant MELA-AU 12 69217887 69217887 single base substitution C T downstream_gene_variant MELA-AU 12 69217887 69217887 single base substitution C T intron_variant MELA-AU 12 69217887 69217887 single base substitution C T upstream_gene_variant MELA-AU 12 69217892 69217892 single base substitution C T downstream_gene_variant MELA-AU 12 69217892 69217892 single base substitution C T intron_variant MELA-AU 12 69217892 69217892 single base substitution C T upstream_gene_variant MELA-AU 12 69218164 69218164 single base substitution C T 3_prime_UTR_variant MELA-AU 12 69218164 69218164 single base substitution C T downstream_gene_variant MELA-AU 12 69218164 69218164 single base substitution C T exon_variant MELA-AU 12 69218164 69218164 single base substitution C T intron_variant MELA-AU 12 69218164 69218164 single base substitution C T missense_variant S121F 362C>T MELA-AU 12 69218164 69218164 single base substitution C T missense_variant S127F 380C>T MELA-AU 12 69218164 69218164 single base substitution C T missense_variant S152F 455C>T MELA-AU 12 69218164 69218164 single base substitution C T missense_variant S96F 287C>T MELA-AU 12 69218661 69218661 single base substitution A G downstream_gene_variant MELA-AU 12 69218661 69218661 single base substitution A G intron_variant MELA-AU 12 69218688 69218688 single base substitution A G downstream_gene_variant MELA-AU 12 69218688 69218688 single base substitution A G intron_variant MELA-AU 12 69218784 69218784 single base substitution C T downstream_gene_variant MELA-AU 12 69218784 69218784 single base substitution C T intron_variant MELA-AU 12 69218814 69218814 single base substitution C T downstream_gene_variant MELA-AU 12 69218814 69218814 single base substitution C T intron_variant MELA-AU 12 69219839 69219839 single base substitution T G downstream_gene_variant MELA-AU 12 69219839 69219839 single base substitution T G intron_variant MELA-AU 12 69220383 69220383 single base substitution C T downstream_gene_variant MELA-AU 12 69220383 69220383 single base substitution C T intron_variant MELA-AU 12 69220663 69220663 single base substitution C G downstream_gene_variant MELA-AU 12 69220663 69220663 single base substitution C G intron_variant MELA-AU 12 69220841 69220841 single base substitution C T downstream_gene_variant MELA-AU 12 69220841 69220841 single base substitution C T intron_variant MELA-AU 12 69221051 69221051 single base substitution A G downstream_gene_variant MELA-AU 12 69221051 69221051 single base substitution A G intron_variant MELA-AU 12 69221461 69221461 single base substitution T C downstream_gene_variant MELA-AU 12 69221461 69221461 single base substitution T C intron_variant MELA-AU 12 69222648 69222648 single base substitution A G 3_prime_UTR_variant MELA-AU 12 69222648 69222648 single base substitution A G downstream_gene_variant MELA-AU 12 69222648 69222648 single base substitution A G exon_variant MELA-AU 12 69222648 69222648 single base substitution A G intron_variant MELA-AU 12 69222648 69222648 single base substitution A G synonymous_variant V146V 438A>G MELA-AU 12 69222648 69222648 single base substitution A G synonymous_variant V152V 456A>G MELA-AU 12 69222648 69222648 single base substitution A G synonymous_variant V176V 528A>G MELA-AU 12 69222648 69222648 single base substitution A G synonymous_variant V201V 603A>G MELA-AU 12 69222648 69222648 single base substitution A G synonymous_variant V207V 621A>G MELA-AU 12 69222694 69222694 single base substitution G A 3_prime_UTR_variant MELA-AU 12 69222694 69222694 single base substitution G A downstream_gene_variant MELA-AU 12 69222694 69222694 single base substitution G A intron_variant MELA-AU 12 69222694 69222694 single base substitution G A missense_variant G162R 484G>A MELA-AU 12 69222694 69222694 single base substitution G A missense_variant G168R 502G>A MELA-AU 12 69222694 69222694 single base substitution G A missense_variant G192R 574G>A MELA-AU 12 69222694 69222694 single base substitution G A missense_variant G217R 649G>A MELA-AU 12 69222694 69222694 single base substitution G A missense_variant G223R 667G>A MELA-AU 12 69222704 69222704 single base substitution C T 3_prime_UTR_variant MELA-AU 12 69222704 69222704 single base substitution C T downstream_gene_variant MELA-AU 12 69222704 69222704 single base substitution C T intron_variant MELA-AU 12 69222704 69222704 single base substitution C T missense_variant S165L 494C>T MELA-AU 12 69222704 69222704 single base substitution C T missense_variant S171L 512C>T MELA-AU 12 69222704 69222704 single base substitution C T missense_variant S195L 584C>T MELA-AU 12 69222704 69222704 single base substitution C T missense_variant S220L 659C>T MELA-AU 12 69222704 69222704 single base substitution C T missense_variant S226L 677C>T MELA-AU 12 69223962 69223962 single base substitution A G downstream_gene_variant MELA-AU 12 69223962 69223962 single base substitution A G intron_variant MELA-AU 12 69224085 69224085 single base substitution C T downstream_gene_variant MELA-AU 12 69224085 69224085 single base substitution C T intron_variant MELA-AU 12 69224691 69224691 single base substitution G A downstream_gene_variant MELA-AU 12 69224691 69224691 single base substitution G A intron_variant MELA-AU 12 69224822 69224822 single base substitution C T downstream_gene_variant MELA-AU 12 69224822 69224822 single base substitution C T intron_variant MELA-AU 12 69225445 69225445 single base substitution C T downstream_gene_variant MELA-AU 12 69225445 69225445 single base substitution C T intron_variant MELA-AU 12 69225459 69225459 single base substitution T C downstream_gene_variant MELA-AU 12 69225459 69225459 single base substitution T C intron_variant MELA-AU 12 69225719 69225719 single base substitution C G downstream_gene_variant MELA-AU 12 69225719 69225719 single base substitution C G intron_variant MELA-AU 12 69226566 69226566 single base substitution G A downstream_gene_variant MELA-AU 12 69226566 69226566 single base substitution G A intron_variant MELA-AU 12 69227412 69227412 single base substitution C T downstream_gene_variant MELA-AU 12 69227412 69227412 single base substitution C T intron_variant MELA-AU 12 69227694 69227694 single base substitution C T intron_variant MELA-AU 12 69228528 69228528 single base substitution A T intron_variant MELA-AU 12 69228655 69228655 single base substitution C T intron_variant MELA-AU 12 69229396 69229396 single base substitution A G intron_variant MELA-AU 12 69230125 69230125 single base substitution T A downstream_gene_variant MELA-AU 12 69230125 69230125 single base substitution T A intron_variant MELA-AU 12 69230164 69230164 single base substitution C T downstream_gene_variant MELA-AU 12 69230164 69230164 single base substitution C T intron_variant MELA-AU 12 69230768 69230768 single base substitution C T downstream_gene_variant MELA-AU 12 69230768 69230768 single base substitution C T intron_variant MELA-AU 12 69231155 69231155 single base substitution A G downstream_gene_variant MELA-AU 12 69231155 69231155 single base substitution A G intron_variant MELA-AU 12 69231231 69231231 single base substitution C T downstream_gene_variant MELA-AU 12 69231231 69231231 single base substitution C T intron_variant MELA-AU 12 69231231 69231231 single base substitution C T upstream_gene_variant MELA-AU 12 69231701 69231701 single base substitution C T downstream_gene_variant MELA-AU 12 69231701 69231701 single base substitution C T intron_variant MELA-AU 12 69231701 69231701 single base substitution C T upstream_gene_variant MELA-AU 12 69232044 69232044 single base substitution C T downstream_gene_variant MELA-AU 12 69232044 69232044 single base substitution C T intron_variant MELA-AU 12 69232044 69232044 single base substitution C T upstream_gene_variant MELA-AU 12 69233885 69233886 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 12 69233885 69233886 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 69233885 69233886 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 69233949 69233949 single base substitution G A 3_prime_UTR_variant MELA-AU 12 69233949 69233949 single base substitution G A downstream_gene_variant MELA-AU 12 69233949 69233949 single base substitution G A upstream_gene_variant MELA-AU 12 69234023 69234023 single base substitution C T 3_prime_UTR_variant MELA-AU 12 69234023 69234023 single base substitution C T downstream_gene_variant MELA-AU 12 69234023 69234023 single base substitution C T upstream_gene_variant MELA-AU 12 69234370 69234370 single base substitution C T 3_prime_UTR_variant MELA-AU 12 69234370 69234370 single base substitution C T downstream_gene_variant MELA-AU 12 69234370 69234370 single base substitution C T upstream_gene_variant MELA-AU 12 69238528 69238528 single base substitution C T 3_prime_UTR_variant MELA-AU 12 69238528 69238528 single base substitution C T downstream_gene_variant MELA-AU 12 69238581 69238581 single base substitution C T 3_prime_UTR_variant MELA-AU 12 69238581 69238581 single base substitution C T downstream_gene_variant MELA-AU 12 69239257 69239257 single base substitution G T downstream_gene_variant MELA-AU 12 69240722 69240722 single base substitution C T downstream_gene_variant MELA-AU 12 69240748 69240748 single base substitution C T downstream_gene_variant MELA-AU 12 69240790 69240790 single base substitution G T downstream_gene_variant MELA-AU 12 69240806 69240806 single base substitution C T downstream_gene_variant MELA-AU 12 69241660 69241660 single base substitution C T downstream_gene_variant MELA-AU 12 69242004 69242004 single base substitution C T downstream_gene_variant MELA-AU 12 69242118 69242118 single base substitution C T downstream_gene_variant MELA-AU 12 69242260 69242260 single base substitution T A downstream_gene_variant MELA-AU 12 69242506 69242506 single base substitution T G downstream_gene_variant MELA-AU 12 69242523 69242523 single base substitution C T downstream_gene_variant MELA-AU 12 69243381 69243381 single base substitution G T downstream_gene_variant ORCA-IN 12 69204251 69204251 deletion of <=200bp A - intron_variant ORCA-IN 12 69204251 69204251 deletion of <=200bp A - upstream_gene_variant ORCA-IN 12 69211350 69211350 single base substitution A T downstream_gene_variant ORCA-IN 12 69211350 69211350 single base substitution A T intron_variant ORCA-IN 12 69213183 69213183 single base substitution C G downstream_gene_variant ORCA-IN 12 69213183 69213183 single base substitution C G intron_variant ORCA-IN 12 69213183 69213183 single base substitution C G upstream_gene_variant ORCA-IN 12 69214363 69214363 single base substitution C G downstream_gene_variant ORCA-IN 12 69214363 69214363 single base substitution C G intron_variant ORCA-IN 12 69214363 69214363 single base substitution C G upstream_gene_variant ORCA-IN 12 69220877 69220877 single base substitution G C downstream_gene_variant ORCA-IN 12 69220877 69220877 single base substitution G C intron_variant OV-AU 12 69215386 69215386 single base substitution C G downstream_gene_variant OV-AU 12 69215386 69215386 single base substitution C G intron_variant OV-AU 12 69215386 69215386 single base substitution C G upstream_gene_variant OV-AU 12 69219258 69219258 single base substitution C T downstream_gene_variant OV-AU 12 69219258 69219258 single base substitution C T intron_variant OV-AU 12 69223525 69223525 single base substitution G T downstream_gene_variant OV-AU 12 69223525 69223525 single base substitution G T intron_variant OV-AU 12 69224385 69224385 single base substitution T G downstream_gene_variant OV-AU 12 69224385 69224385 single base substitution T G intron_variant OV-AU 12 69228466 69228466 single base substitution G C intron_variant OV-AU 12 69232725 69232725 single base substitution A G downstream_gene_variant OV-AU 12 69232725 69232725 single base substitution A G intron_variant OV-AU 12 69232725 69232725 single base substitution A G upstream_gene_variant OV-AU 12 69234702 69234702 single base substitution G T 3_prime_UTR_variant OV-AU 12 69234702 69234702 single base substitution G T downstream_gene_variant OV-AU 12 69234702 69234702 single base substitution G T upstream_gene_variant OV-AU 12 69236775 69236775 single base substitution T A 3_prime_UTR_variant OV-AU 12 69236775 69236775 single base substitution T A downstream_gene_variant OV-AU 12 69236775 69236775 single base substitution T A intron_variant OV-AU 12 69236775 69236775 single base substitution T A upstream_gene_variant OV-AU 12 69240998 69240998 single base substitution T C downstream_gene_variant OV-AU 12 69243147 69243147 single base substitution G T downstream_gene_variant PACA-AU 12 69199507 69199507 single base substitution T C upstream_gene_variant PACA-AU 12 69199698 69199698 single base substitution C A upstream_gene_variant PACA-AU 12 69200704 69200704 single base substitution G A upstream_gene_variant PACA-AU 12 69214932 69214932 single base substitution A T downstream_gene_variant PACA-AU 12 69214932 69214932 single base substitution A T intron_variant PACA-AU 12 69214932 69214932 single base substitution A T upstream_gene_variant PACA-AU 12 69219437 69219437 single base substitution G A downstream_gene_variant PACA-AU 12 69219437 69219437 single base substitution G A intron_variant PACA-AU 12 69221735 69221735 insertion of <=200bp - ACCCTGTCTCT downstream_gene_variant PACA-AU 12 69221735 69221735 insertion of <=200bp - ACCCTGTCTCT intron_variant PACA-AU 12 69226289 69226289 single base substitution A T downstream_gene_variant PACA-AU 12 69226289 69226289 single base substitution A T intron_variant PACA-AU 12 69230455 69230455 single base substitution T C 3_prime_UTR_variant PACA-AU 12 69230455 69230455 single base substitution T C downstream_gene_variant PACA-AU 12 69230455 69230455 single base substitution T C intron_variant PACA-AU 12 69230455 69230455 single base substitution T C missense_variant Y106H 316T>C PACA-AU 12 69230455 69230455 single base substitution T C missense_variant Y221H 661T>C PACA-AU 12 69230455 69230455 single base substitution T C missense_variant Y227H 679T>C PACA-AU 12 69230455 69230455 single base substitution T C missense_variant Y229H 685T>C PACA-AU 12 69230455 69230455 single base substitution T C missense_variant Y251H 751T>C PACA-AU 12 69230455 69230455 single base substitution T C missense_variant Y282H 844T>C PACA-AU 12 69230455 69230455 single base substitution T C missense_variant Y81H 241T>C PACA-AU 12 69236278 69236278 single base substitution G C 3_prime_UTR_variant PACA-AU 12 69236278 69236278 single base substitution G C downstream_gene_variant PACA-AU 12 69236278 69236278 single base substitution G C exon_variant PACA-AU 12 69236278 69236278 single base substitution G C upstream_gene_variant PACA-AU 12 69240977 69240977 insertion of <=200bp - TA downstream_gene_variant PACA-AU 12 69243179 69243179 single base substitution T G downstream_gene_variant PACA-CA 12 69200532 69200532 single base substitution G A upstream_gene_variant PACA-CA 12 69201771 69201771 single base substitution G C upstream_gene_variant PACA-CA 12 69208948 69208948 single base substitution G A intron_variant PACA-CA 12 69210199 69210218 deletion of <=200bp CCGGAGTGCAGTGGCGCAAT - intron_variant PACA-CA 12 69217245 69217245 single base substitution T G downstream_gene_variant PACA-CA 12 69217245 69217245 single base substitution T G intron_variant PACA-CA 12 69217245 69217245 single base substitution T G upstream_gene_variant PACA-CA 12 69221933 69221933 single base substitution G T downstream_gene_variant PACA-CA 12 69221933 69221933 single base substitution G T intron_variant PACA-CA 12 69229240 69229240 single base substitution G A intron_variant PACA-CA 12 69239007 69239007 single base substitution A C 3_prime_UTR_variant PACA-CA 12 69239007 69239007 single base substitution A C downstream_gene_variant PACA-CA 12 69240954 69240957 deletion of <=200bp TATG - downstream_gene_variant PACA-CA 12 69242478 69242478 single base substitution C G downstream_gene_variant PACA-CA 12 69242803 69242803 deletion of <=200bp T - downstream_gene_variant PACA-CA 12 69243471 69243471 single base substitution G T downstream_gene_variant PACA-CA 12 69243560 69243562 deletion of <=200bp TTT - downstream_gene_variant PACA-CA 12 69243949 69243949 single base substitution C T downstream_gene_variant PAEN-IT 12 69208343 69208343 single base substitution T C intron_variant PAEN-IT 12 69215810 69215810 single base substitution T G downstream_gene_variant PAEN-IT 12 69215810 69215810 single base substitution T G intron_variant PAEN-IT 12 69215810 69215810 single base substitution T G upstream_gene_variant PBCA-DE 12 69207313 69207313 single base substitution G A intron_variant PBCA-DE 12 69207313 69207313 single base substitution G A upstream_gene_variant PBCA-DE 12 69214082 69214082 insertion of <=200bp - T downstream_gene_variant PBCA-DE 12 69214082 69214082 insertion of <=200bp - T intron_variant PBCA-DE 12 69214082 69214082 insertion of <=200bp - T upstream_gene_variant PBCA-DE 12 69217956 69217956 single base substitution G T downstream_gene_variant PBCA-DE 12 69217956 69217956 single base substitution G T intron_variant PBCA-DE 12 69217956 69217956 single base substitution G T upstream_gene_variant PBCA-DE 12 69224236 69224236 single base substitution G T downstream_gene_variant PBCA-DE 12 69224236 69224236 single base substitution G T intron_variant PBCA-DE 12 69228226 69228226 single base substitution A G intron_variant PBCA-DE 12 69228414 69228414 single base substitution G C intron_variant PBCA-DE 12 69231928 69231928 insertion of <=200bp - A downstream_gene_variant PBCA-DE 12 69231928 69231928 insertion of <=200bp - A intron_variant PBCA-DE 12 69231928 69231928 insertion of <=200bp - A upstream_gene_variant PBCA-DE 12 69232594 69232594 single base substitution G T downstream_gene_variant PBCA-DE 12 69232594 69232594 single base substitution G T intron_variant PBCA-DE 12 69232594 69232594 single base substitution G T upstream_gene_variant PBCA-DE 12 69240977 69240977 insertion of <=200bp - TATATATATATATATATA downstream_gene_variant PBCA-DE 12 69242638 69242638 single base substitution G A downstream_gene_variant PRAD-CA 12 69211891 69211891 single base substitution G C downstream_gene_variant PRAD-CA 12 69211891 69211891 single base substitution G C intron_variant PRAD-CA 12 69231085 69231085 single base substitution C G downstream_gene_variant PRAD-CA 12 69231085 69231085 single base substitution C G intron_variant PRAD-UK 12 69200393 69200393 single base substitution G A upstream_gene_variant PRAD-UK 12 69203800 69203800 single base substitution T C intron_variant PRAD-UK 12 69203800 69203800 single base substitution T C upstream_gene_variant PRAD-UK 12 69208421 69208421 single base substitution C A exon_variant PRAD-UK 12 69208421 69208421 single base substitution C A intron_variant PRAD-UK 12 69208436 69208436 single base substitution A C exon_variant PRAD-UK 12 69208436 69208436 single base substitution A C intron_variant PRAD-UK 12 69214081 69214081 single base substitution A G downstream_gene_variant PRAD-UK 12 69214081 69214081 single base substitution A G intron_variant PRAD-UK 12 69214081 69214081 single base substitution A G upstream_gene_variant PRAD-UK 12 69233512 69233512 single base substitution C T 3_prime_UTR_variant PRAD-UK 12 69233512 69233512 single base substitution C T downstream_gene_variant PRAD-UK 12 69233512 69233512 single base substitution C T intron_variant PRAD-UK 12 69233512 69233512 single base substitution C T synonymous_variant G180G 540C>T PRAD-UK 12 69233512 69233512 single base substitution C T synonymous_variant G205G 615C>T PRAD-UK 12 69233512 69233512 single base substitution C T synonymous_variant G227G 681C>T PRAD-UK 12 69233512 69233512 single base substitution C T synonymous_variant G232G 696C>T PRAD-UK 12 69233512 69233512 single base substitution C T synonymous_variant G258G 774C>T PRAD-UK 12 69233512 69233512 single base substitution C T synonymous_variant G283G 849C>T PRAD-UK 12 69233512 69233512 single base substitution C T synonymous_variant G398G 1194C>T PRAD-UK 12 69233512 69233512 single base substitution C T synonymous_variant G404G 1212C>T PRAD-UK 12 69233512 69233512 single base substitution C T synonymous_variant G428G 1284C>T PRAD-UK 12 69233512 69233512 single base substitution C T synonymous_variant G459G 1377C>T PRAD-UK 12 69233512 69233512 single base substitution C T synonymous_variant G92G 276C>T PRAD-UK 12 69233512 69233512 single base substitution C T upstream_gene_variant PRAD-US 12 69233090 69233090 deletion of <=200bp C - 3_prime_UTR_variant PRAD-US 12 69233090 69233090 deletion of <=200bp C - downstream_gene_variant PRAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P117 PRAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P118 PRAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P143 PRAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P258 PRAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P264 PRAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P288 PRAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P319 PRAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P40 PRAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P65 PRAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P87 PRAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P92 PRAD-US 12 69233090 69233090 deletion of <=200bp C - intron_variant PRAD-US 12 69233090 69233090 deletion of <=200bp C - upstream_gene_variant READ-US 12 69229624 69229624 single base substitution G T 3_prime_UTR_variant READ-US 12 69229624 69229624 single base substitution G T intron_variant READ-US 12 69229624 69229624 single base substitution G T missense_variant V173L 517G>T READ-US 12 69229624 69229624 single base substitution G T missense_variant V179L 535G>T READ-US 12 69229624 69229624 single base substitution G T missense_variant V203L 607G>T READ-US 12 69229624 69229624 single base substitution G T missense_variant V228L 682G>T READ-US 12 69229624 69229624 single base substitution G T missense_variant V234L 700G>T READ-US 12 69229624 69229624 single base substitution G T missense_variant V28L 82G>T READ-US 12 69229624 69229624 single base substitution G T missense_variant V33L 97G>T READ-US 12 69229624 69229624 single base substitution G T missense_variant V58L 172G>T READ-US 12 69229624 69229624 single base substitution G T splice_donor_variant RECA-EU 12 69205921 69205921 single base substitution T A intron_variant RECA-EU 12 69205921 69205921 single base substitution T A upstream_gene_variant RECA-EU 12 69214730 69214730 single base substitution A G downstream_gene_variant RECA-EU 12 69214730 69214730 single base substitution A G intron_variant RECA-EU 12 69214730 69214730 single base substitution A G upstream_gene_variant RECA-EU 12 69217377 69217377 single base substitution A G downstream_gene_variant RECA-EU 12 69217377 69217377 single base substitution A G intron_variant RECA-EU 12 69217377 69217377 single base substitution A G upstream_gene_variant RECA-EU 12 69223655 69223655 single base substitution T G downstream_gene_variant RECA-EU 12 69223655 69223655 single base substitution T G intron_variant RECA-EU 12 69230901 69230901 single base substitution T C downstream_gene_variant RECA-EU 12 69230901 69230901 single base substitution T C intron_variant RECA-EU 12 69236523 69236523 single base substitution A G 3_prime_UTR_variant RECA-EU 12 69236523 69236523 single base substitution A G downstream_gene_variant RECA-EU 12 69236523 69236523 single base substitution A G intron_variant RECA-EU 12 69236523 69236523 single base substitution A G upstream_gene_variant RECA-EU 12 69242337 69242337 single base substitution G A downstream_gene_variant SKCA-BR 12 69197998 69197998 single base substitution C T upstream_gene_variant SKCA-BR 12 69201167 69201167 single base substitution C T upstream_gene_variant SKCA-BR 12 69201780 69201780 single base substitution A C upstream_gene_variant SKCA-BR 12 69201786 69201786 single base substitution A C upstream_gene_variant SKCA-BR 12 69205381 69205381 insertion of <=200bp - AT intron_variant SKCA-BR 12 69205381 69205381 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 12 69212831 69212831 single base substitution T C downstream_gene_variant SKCA-BR 12 69212831 69212831 single base substitution T C intron_variant SKCA-BR 12 69213517 69213517 single base substitution G A downstream_gene_variant SKCA-BR 12 69213517 69213517 single base substitution G A intron_variant SKCA-BR 12 69213517 69213517 single base substitution G A upstream_gene_variant SKCA-BR 12 69219211 69219211 single base substitution A G downstream_gene_variant SKCA-BR 12 69219211 69219211 single base substitution A G intron_variant SKCA-BR 12 69220365 69220365 single base substitution G T downstream_gene_variant SKCA-BR 12 69220365 69220365 single base substitution G T intron_variant SKCA-BR 12 69226683 69226683 single base substitution G A downstream_gene_variant SKCA-BR 12 69226683 69226683 single base substitution G A intron_variant SKCA-BR 12 69226925 69226925 single base substitution A T downstream_gene_variant SKCA-BR 12 69226925 69226925 single base substitution A T intron_variant SKCA-BR 12 69226929 69226929 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 12 69226929 69226929 insertion of <=200bp - AT intron_variant SKCA-BR 12 69227059 69227059 single base substitution A T downstream_gene_variant SKCA-BR 12 69227059 69227059 single base substitution A T intron_variant SKCA-BR 12 69227060 69227060 single base substitution A T downstream_gene_variant SKCA-BR 12 69227060 69227060 single base substitution A T intron_variant SKCA-BR 12 69230735 69230736 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 12 69230735 69230736 deletion of <=200bp CT - intron_variant SKCA-BR 12 69235200 69235200 single base substitution C T 3_prime_UTR_variant SKCA-BR 12 69235200 69235200 single base substitution C T downstream_gene_variant SKCA-BR 12 69235200 69235200 single base substitution C T upstream_gene_variant SKCA-BR 12 69235273 69235273 single base substitution C T 3_prime_UTR_variant SKCA-BR 12 69235273 69235273 single base substitution C T downstream_gene_variant SKCA-BR 12 69235273 69235273 single base substitution C T upstream_gene_variant SKCA-BR 12 69239602 69239602 single base substitution G A downstream_gene_variant SKCA-BR 12 69242523 69242523 single base substitution C T downstream_gene_variant SKCA-BR 12 69243106 69243106 single base substitution G A downstream_gene_variant SKCA-BR 12 69243181 69243182 deletion of <=200bp TG - downstream_gene_variant SKCA-BR 12 69243430 69243430 single base substitution C T downstream_gene_variant SKCM-US 12 69233100 69233100 single base substitution C T 3_prime_UTR_variant SKCM-US 12 69233100 69233100 single base substitution C T downstream_gene_variant SKCM-US 12 69233100 69233100 single base substitution C T intron_variant SKCM-US 12 69233100 69233100 single base substitution C T missense_variant P121L 362C>T SKCM-US 12 69233100 69233100 single base substitution C T missense_variant P146L 437C>T SKCM-US 12 69233100 69233100 single base substitution C T missense_variant P261L 782C>T SKCM-US 12 69233100 69233100 single base substitution C T missense_variant P267L 800C>T SKCM-US 12 69233100 69233100 single base substitution C T missense_variant P291L 872C>T SKCM-US 12 69233100 69233100 single base substitution C T missense_variant P322L 965C>T SKCM-US 12 69233100 69233100 single base substitution C T missense_variant P43L 128C>T SKCM-US 12 69233100 69233100 single base substitution C T missense_variant P68L 203C>T SKCM-US 12 69233100 69233100 single base substitution C T missense_variant P90L 269C>T SKCM-US 12 69233100 69233100 single base substitution C T missense_variant P95L 284C>T SKCM-US 12 69233100 69233100 single base substitution C T upstream_gene_variant STAD-US 12 69202995 69202995 single base substitution T C exon_variant STAD-US 12 69202995 69202995 single base substitution T C missense_variant C2R 4T>C STAD-US 12 69202995 69202995 single base substitution T C missense_variant C8R 22T>C STAD-US 12 69202995 69202995 single base substitution T C upstream_gene_variant STAD-US 12 69222698 69222698 single base substitution C T 3_prime_UTR_variant STAD-US 12 69222698 69222698 single base substitution C T downstream_gene_variant STAD-US 12 69222698 69222698 single base substitution C T intron_variant STAD-US 12 69222698 69222698 single base substitution C T missense_variant T163M 488C>T STAD-US 12 69222698 69222698 single base substitution C T missense_variant T169M 506C>T STAD-US 12 69222698 69222698 single base substitution C T missense_variant T193M 578C>T STAD-US 12 69222698 69222698 single base substitution C T missense_variant T218M 653C>T STAD-US 12 69222698 69222698 single base substitution C T missense_variant T224M 671C>T STAD-US 12 69229704 69229704 single base substitution C T 3_prime_UTR_variant STAD-US 12 69229704 69229704 single base substitution C T intron_variant STAD-US 12 69229704 69229704 single base substitution C T synonymous_variant L199L 597C>T STAD-US 12 69229704 69229704 single base substitution C T synonymous_variant L205L 615C>T STAD-US 12 69229704 69229704 single base substitution C T synonymous_variant L229L 687C>T STAD-US 12 69229704 69229704 single base substitution C T synonymous_variant L254L 762C>T STAD-US 12 69229704 69229704 single base substitution C T synonymous_variant L260L 780C>T STAD-US 12 69229704 69229704 single base substitution C T synonymous_variant L54L 162C>T STAD-US 12 69229704 69229704 single base substitution C T synonymous_variant L59L 177C>T STAD-US 12 69229704 69229704 single base substitution C T synonymous_variant L84L 252C>T STAD-US 12 69230464 69230464 single base substitution A C 3_prime_UTR_variant STAD-US 12 69230464 69230464 single base substitution A C downstream_gene_variant STAD-US 12 69230464 69230464 single base substitution A C intron_variant STAD-US 12 69230464 69230464 single base substitution A C missense_variant T109P 325A>C STAD-US 12 69230464 69230464 single base substitution A C missense_variant T224P 670A>C STAD-US 12 69230464 69230464 single base substitution A C missense_variant T230P 688A>C STAD-US 12 69230464 69230464 single base substitution A C missense_variant T232P 694A>C STAD-US 12 69230464 69230464 single base substitution A C missense_variant T254P 760A>C STAD-US 12 69230464 69230464 single base substitution A C missense_variant T285P 853A>C STAD-US 12 69230464 69230464 single base substitution A C missense_variant T84P 250A>C STAD-US 12 69233090 69233090 deletion of <=200bp C - 3_prime_UTR_variant STAD-US 12 69233090 69233090 deletion of <=200bp C - downstream_gene_variant STAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P117 STAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P118 STAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P143 STAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P258 STAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P264 STAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P288 STAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P319 STAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P40 STAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P65 STAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P87 STAD-US 12 69233090 69233090 deletion of <=200bp C - frameshift_variant P92 STAD-US 12 69233090 69233090 deletion of <=200bp C - intron_variant STAD-US 12 69233090 69233090 deletion of <=200bp C - upstream_gene_variant STAD-US 12 69233299 69233299 single base substitution T C 3_prime_UTR_variant STAD-US 12 69233299 69233299 single base substitution T C downstream_gene_variant STAD-US 12 69233299 69233299 single base substitution T C intron_variant STAD-US 12 69233299 69233299 single base substitution T C synonymous_variant I109I 327T>C STAD-US 12 69233299 69233299 single base substitution T C synonymous_variant I134I 402T>C STAD-US 12 69233299 69233299 single base substitution T C synonymous_variant I156I 468T>C STAD-US 12 69233299 69233299 single base substitution T C synonymous_variant I161I 483T>C STAD-US 12 69233299 69233299 single base substitution T C synonymous_variant I187I 561T>C STAD-US 12 69233299 69233299 single base substitution T C synonymous_variant I212I 636T>C STAD-US 12 69233299 69233299 single base substitution T C synonymous_variant I327I 981T>C STAD-US 12 69233299 69233299 single base substitution T C synonymous_variant I333I 999T>C STAD-US 12 69233299 69233299 single base substitution T C synonymous_variant I357I 1071T>C STAD-US 12 69233299 69233299 single base substitution T C synonymous_variant I388I 1164T>C STAD-US 12 69233299 69233299 single base substitution T C upstream_gene_variant THCA-SA 12 69233716 69233716 single base substitution G A 3_prime_UTR_variant THCA-SA 12 69233716 69233716 single base substitution G A downstream_gene_variant THCA-SA 12 69233716 69233716 single base substitution G A upstream_gene_variant THCA-SA 12 69238835 69238835 single base substitution G A 3_prime_UTR_variant THCA-SA 12 69238835 69238835 single base substitution G A downstream_gene_variant THCA-SA 12 69238892 69238892 single base substitution A T 3_prime_UTR_variant THCA-SA 12 69238892 69238892 single base substitution A T downstream_gene_variant THCA-SA 12 69238963 69238963 single base substitution T C 3_prime_UTR_variant THCA-SA 12 69238963 69238963 single base substitution T C downstream_gene_variant UCEC-US 12 69210629 69210629 single base substitution G A 3_prime_UTR_variant UCEC-US 12 69210629 69210629 single base substitution G A exon_variant UCEC-US 12 69210629 69210629 single base substitution G A intron_variant UCEC-US 12 69210629 69210629 single base substitution G A missense_variant R40Q 119G>A UCEC-US 12 69210629 69210629 single base substitution G A missense_variant R65Q 194G>A UCEC-US 12 69210629 69210629 single base substitution G A missense_variant R71Q 212G>A UCEC-US 12 69210629 69210629 single base substitution G A missense_variant R96Q 287G>A UCEC-US 12 69222705 69222705 single base substitution G A 3_prime_UTR_variant UCEC-US 12 69222705 69222705 single base substitution G A downstream_gene_variant UCEC-US 12 69222705 69222705 single base substitution G A intron_variant UCEC-US 12 69222705 69222705 single base substitution G A synonymous_variant S165S 495G>A UCEC-US 12 69222705 69222705 single base substitution G A synonymous_variant S171S 513G>A UCEC-US 12 69222705 69222705 single base substitution G A synonymous_variant S195S 585G>A UCEC-US 12 69222705 69222705 single base substitution G A synonymous_variant S220S 660G>A UCEC-US 12 69222705 69222705 single base substitution G A synonymous_variant S226S 678G>A UCEC-US 12 69229689 69229689 single base substitution T C 3_prime_UTR_variant UCEC-US 12 69229689 69229689 single base substitution T C intron_variant UCEC-US 12 69229689 69229689 single base substitution T C synonymous_variant F194F 582T>C UCEC-US 12 69229689 69229689 single base substitution T C synonymous_variant F200F 600T>C UCEC-US 12 69229689 69229689 single base substitution T C synonymous_variant F224F 672T>C UCEC-US 12 69229689 69229689 single base substitution T C synonymous_variant F249F 747T>C UCEC-US 12 69229689 69229689 single base substitution T C synonymous_variant F255F 765T>C UCEC-US 12 69229689 69229689 single base substitution T C synonymous_variant F49F 147T>C UCEC-US 12 69229689 69229689 single base substitution T C synonymous_variant F54F 162T>C UCEC-US 12 69229689 69229689 single base substitution T C synonymous_variant F79F 237T>C UCEC-US 12 69230501 69230501 single base substitution T C 3_prime_UTR_variant UCEC-US 12 69230501 69230501 single base substitution T C downstream_gene_variant UCEC-US 12 69230501 69230501 single base substitution T C intron_variant UCEC-US 12 69230501 69230501 single base substitution T C missense_variant F121S 362T>C UCEC-US 12 69230501 69230501 single base substitution T C missense_variant F236S 707T>C UCEC-US 12 69230501 69230501 single base substitution T C missense_variant F242S 725T>C UCEC-US 12 69230501 69230501 single base substitution T C missense_variant F244S 731T>C UCEC-US 12 69230501 69230501 single base substitution T C missense_variant F266S 797T>C UCEC-US 12 69230501 69230501 single base substitution T C missense_variant F297S 890T>C UCEC-US 12 69230501 69230501 single base substitution T C missense_variant F96S 287T>C UCEC-US 12 69233289 69233289 single base substitution A G 3_prime_UTR_variant UCEC-US 12 69233289 69233289 single base substitution A G downstream_gene_variant UCEC-US 12 69233289 69233289 single base substitution A G intron_variant UCEC-US 12 69233289 69233289 single base substitution A G missense_variant D106G 317A>G UCEC-US 12 69233289 69233289 single base substitution A G missense_variant D131G 392A>G UCEC-US 12 69233289 69233289 single base substitution A G missense_variant D153G 458A>G UCEC-US 12 69233289 69233289 single base substitution A G missense_variant D158G 473A>G UCEC-US 12 69233289 69233289 single base substitution A G missense_variant D184G 551A>G UCEC-US 12 69233289 69233289 single base substitution A G missense_variant D209G 626A>G UCEC-US 12 69233289 69233289 single base substitution A G missense_variant D324G 971A>G UCEC-US 12 69233289 69233289 single base substitution A G missense_variant D330G 989A>G UCEC-US 12 69233289 69233289 single base substitution A G missense_variant D354G 1061A>G UCEC-US 12 69233289 69233289 single base substitution A G missense_variant D385G 1154A>G UCEC-US 12 69233289 69233289 single base substitution A G upstream_gene_variant UCEC-US 12 69233329 69233329 single base substitution A G 3_prime_UTR_variant UCEC-US 12 69233329 69233329 single base substitution A G downstream_gene_variant UCEC-US 12 69233329 69233329 single base substitution A G intron_variant UCEC-US 12 69233329 69233329 single base substitution A G missense_variant K33R 98A>G UCEC-US 12 69233329 69233329 single base substitution A G synonymous_variant E119E 357A>G UCEC-US 12 69233329 69233329 single base substitution A G synonymous_variant E144E 432A>G UCEC-US 12 69233329 69233329 single base substitution A G synonymous_variant E166E 498A>G UCEC-US 12 69233329 69233329 single base substitution A G synonymous_variant E171E 513A>G UCEC-US 12 69233329 69233329 single base substitution A G synonymous_variant E197E 591A>G UCEC-US 12 69233329 69233329 single base substitution A G synonymous_variant E222E 666A>G UCEC-US 12 69233329 69233329 single base substitution A G synonymous_variant E337E 1011A>G UCEC-US 12 69233329 69233329 single base substitution A G synonymous_variant E343E 1029A>G UCEC-US 12 69233329 69233329 single base substitution A G synonymous_variant E367E 1101A>G UCEC-US 12 69233329 69233329 single base substitution A G synonymous_variant E398E 1194A>G UCEC-US 12 69233329 69233329 single base substitution A G upstream_gene_variant UCEC-US 12 69233373 69233373 single base substitution G A 3_prime_UTR_variant UCEC-US 12 69233373 69233373 single base substitution G A downstream_gene_variant UCEC-US 12 69233373 69233373 single base substitution G A intron_variant UCEC-US 12 69233373 69233373 single base substitution G A missense_variant A48T 142G>A UCEC-US 12 69233373 69233373 single base substitution G A missense_variant S134N 401G>A UCEC-US 12 69233373 69233373 single base substitution G A missense_variant S159N 476G>A UCEC-US 12 69233373 69233373 single base substitution G A missense_variant S181N 542G>A UCEC-US 12 69233373 69233373 single base substitution G A missense_variant S186N 557G>A UCEC-US 12 69233373 69233373 single base substitution G A missense_variant S212N 635G>A UCEC-US 12 69233373 69233373 single base substitution G A missense_variant S237N 710G>A UCEC-US 12 69233373 69233373 single base substitution G A missense_variant S352N 1055G>A UCEC-US 12 69233373 69233373 single base substitution G A missense_variant S358N 1073G>A UCEC-US 12 69233373 69233373 single base substitution G A missense_variant S382N 1145G>A UCEC-US 12 69233373 69233373 single base substitution G A missense_variant S413N 1238G>A UCEC-US 12 69233373 69233373 single base substitution G A upstream_gene_variant UCEC-US 12 69233596 69233596 single base substitution A G 3_prime_UTR_variant UCEC-US 12 69233596 69233596 single base substitution A G downstream_gene_variant UCEC-US 12 69233596 69233596 single base substitution A G synonymous_variant P120P 360A>G UCEC-US 12 69233596 69233596 single base substitution A G synonymous_variant P208P 624A>G UCEC-US 12 69233596 69233596 single base substitution A G synonymous_variant P233P 699A>G UCEC-US 12 69233596 69233596 single base substitution A G synonymous_variant P255P 765A>G UCEC-US 12 69233596 69233596 single base substitution A G synonymous_variant P260P 780A>G UCEC-US 12 69233596 69233596 single base substitution A G synonymous_variant P286P 858A>G UCEC-US 12 69233596 69233596 single base substitution A G synonymous_variant P311P 933A>G UCEC-US 12 69233596 69233596 single base substitution A G synonymous_variant P426P 1278A>G UCEC-US 12 69233596 69233596 single base substitution A G synonymous_variant P432P 1296A>G UCEC-US 12 69233596 69233596 single base substitution A G synonymous_variant P456P 1368A>G UCEC-US 12 69233596 69233596 single base substitution A G synonymous_variant P487P 1461A>G UCEC-US 12 69233596 69233596 single base substitution A G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand S04-6933-TP COSM4990296 c.946G>T p.E316* Substitution - Nonsense 12:68839301-68839301 + WA22 COSM240627 c.1305T>G p.S435R Substitution - Missense 12:68839660-68839660 + 0042_CRUK_PC_0042_T1_DNA COSM5421794 c.1377C>T p.G459G Substitution - coding silent 12:68839732-68839732 + TCGA-AX-A063-01 COSM942906 c.765T>C p.F255F Substitution - coding silent 12:68835909-68835909 + T3658 COSM4701330 c.704G>A p.S235N Substitution - Missense 12:68835848-68835848 + TCGA-AN-A0AK-01 COSM1363876 c.955delC p.L321fs*52 Deletion - Frameshift 12:68839310-68839310 + CSCC-31-T COSM4554043 c.609G>A p.L203L Substitution - coding silent 12:68828856-68828856 + 587278 COSM1214768 c.565C>T p.R189C Substitution - Missense 12:68828812-68828812 + SKNEP1 COSM2099293 c.226A>C p.K76Q Substitution - Missense 12:68816863-68816863 + 16710 COSM48557 c.1003T>G p.W335G Substitution - Missense 12:68839358-68839358 + TCGA-CL-4957-01 COSM3417095 c.700G>T p.V234L Substitution - Missense 12:68835844-68835844 + RH30SJ_ COSM2099313 c.999G>T p.E333D Substitution - Missense 12:68839354-68839354 + B80-Tumor COSM1747211 c.1012G>A p.E338K Substitution - Missense 12:68839367-68839367 + TCGA-FG-8185-01 COSM2099307 c.910T>C p.S304P Substitution - Missense 12:68836741-68836741 + TCGA-HU-A4GU-01 COSM4044444 c.671C>T p.T224M Substitution - Missense 12:68828918-68828918 + 16857 COSM48558 c.1395G>T p.M465I Substitution - Missense 12:68839750-68839750 + pfg016T COSM1639228 c.840+7delT p.? Unknown 12:68835991-68835991 + S10-24679-TP COSM4990298 c.960C>T p.P320P Substitution - coding silent 12:68839315-68839315 + TCGA-CG-5721-01 COSM4044450 c.1164T>C p.I388I Substitution - coding silent 12:68839519-68839519 + HX23T COSM3704380 c.810A>G p.E270E Substitution - coding silent 12:68835954-68835954 + 3N40-VS-3T40 COSM4981622 c.482G>C p.R161T Substitution - Missense 12:68824610-68824610 + K76 COSM249344 c.47C>T p.T16I Substitution - Missense 12:68809240-68809240 + RK212_C01 COSM3739851 c.398G>A p.C133Y Substitution - Missense 12:68824402-68824402 + TCGA-D1-A17A-01 COSM942910 c.1238G>A p.S413N Substitution - Missense 12:68839593-68839593 + CPCG0006-F1 COSM3396088 c.38C>G p.S13C Substitution - Missense 12:68809231-68809231 + 2011-2280:2012-366-T COSM1639228 c.840+7delT p.? Unknown 12:68835991-68835991 + TCGA-AA-A00N-01 COSM276041 c.1038A>C p.E346D Substitution - Missense 12:68839393-68839393 + TCGA-RP-A695-06 COSM4896041 c.965C>T p.P322L Substitution - Missense 12:68839320-68839320 + pfg016T COSM1639226 c.583A>G p.I195V Substitution - Missense 12:68828830-68828830 + B80 COSM1747211 c.1012G>A p.E338K Substitution - Missense 12:68839367-68839367 + CHC155T COSM217034 c.614T>A p.L205Q Substitution - Missense 12:68828861-68828861 + BD35T COSM5520207 c.785C>G p.S262* Substitution - Nonsense 12:68835929-68835929 + T5 COSM5019617 c.1080A>G p.E360E Substitution - coding silent 12:68839435-68839435 + CHC304T COSM4788440 c.313A>G p.I105V Substitution - Missense 12:68820329-68820329 + 08-P1004 COSM4575693 c.1258T>A p.F420I Substitution - Missense 12:68839613-68839613 + I2L-P19Ta-Tumor-Organoid COSM1639228 c.840+7delT p.? Unknown 12:68835991-68835991 + TCGA-A2-A0CL-01 COSM431747 c.994C>T p.R332C Substitution - Missense 12:68839349-68839349 + SNU-C4 COSM1363876 c.955delC p.L321fs*52 Deletion - Frameshift 12:68839310-68839310 + LC_S4 COSM1188548 c.1409G>A p.C470Y Substitution - Missense 12:68839764-68839764 + CSCC-5-T COSM4501394 c.587C>T p.S196F Substitution - Missense 12:68828834-68828834 + TCGA-22-5492-01 COSM694660 c.437A>C p.Q146P Substitution - Missense 12:68824565-68824565 + TCGA-CA-6717-01 COSM1363872 c.781G>A p.D261N Substitution - Missense 12:68835925-68835925 + TCGA-A6-6653-01 COSM1363876 c.955delC p.L321fs*52 Deletion - Frameshift 12:68839310-68839310 + SNU-C4 COSM4652331 c.812G>A p.G271E Substitution - Missense 12:68835956-68835956 + 2492730 COSM5728762 c.1078G>A p.E360K Substitution - Missense 12:68839433-68839433 + PD14472a COSM5783774 c.733G>T p.D245Y Substitution - Missense 12:68835877-68835877 + LUAD-S01357 COSM386537 c.843A>G p.V281V Substitution - coding silent 12:68836674-68836674 + TCGA-BS-A0UV-01 COSM942904 c.212G>A p.R71Q Substitution - Missense 12:68816849-68816849 + RMS112_ COSM2099313 c.999G>T p.E333D Substitution - Missense 12:68839354-68839354 + TCGA-BR-4368-01 COSM4044446 c.780C>T p.L260L Substitution - coding silent 12:68835924-68835924 + 2492709 COSM5717684 c.832G>A p.D278N Substitution - Missense 12:68835976-68835976 + DN12105 COSM5770324 c.684+9C>T p.? Unknown 12:68828940-68828940 + tumor_4112512 COSM3356352 c.614T>C p.L205P Substitution - Missense 12:68828861-68828861 + S01873 COSM5672074 c.69A>G p.S23S Substitution - coding silent 12:68809262-68809262 + TCGA-33-4582-01 COSM694659 c.1339T>A p.C447S Substitution - Missense 12:68839694-68839694 + TCGA-AA-A00N-01 COSM276042 c.1483T>C p.Y495H Substitution - Missense 12:68839838-68839838 + CHC306T COSM3667209 c.1291A>T p.S431C Substitution - Missense 12:68839646-68839646 + CHC155T COSM217034 c.614T>A p.L205Q Substitution - Missense 12:68828861-68828861 + TCGA-D1-A17Q-01 COSM942905 c.678G>A p.S226S Substitution - coding silent 12:68828925-68828925 + 8031704 COSM1168765 c.844T>C p.Y282H Substitution - Missense 12:68836675-68836675 + 098T COSM1731596 c.1354_1365del12 p.K452_C455delKNGC Deletion - In frame 12:68839709-68839720 + J54_T COSM3955089 c.1169A>G p.Q390R Substitution - Missense 12:68839524-68839524 + HCC107T COSM1606548 c.566G>A p.R189H Substitution - Missense 12:68828813-68828813 + EGCT1080 COSM5749116 c.1237A>C p.S413R Substitution - Missense 12:68839592-68839592 + S02342 COSM5692503 c.337T>G p.L113V Substitution - Missense 12:68820353-68820353 + TCGA-06-0155-01 COSM3399021 c.280G>A p.V94M Substitution - Missense 12:68816917-68816917 + TCGA-AA-A010-01 COSM282734 c.1370T>C p.V457A Substitution - Missense 12:68839725-68839725 + PD24199a COSM5790962 c.411T>A p.G137G Substitution - coding silent 12:68824415-68824415 + 2492708 COSM5717684 c.832G>A p.D278N Substitution - Missense 12:68835976-68835976 + 1N52-VS-1T52 COSM4976757 c.1114A>G p.I372V Substitution - Missense 12:68839469-68839469 + PD13424a COSM5792965 c.648C>T p.S216S Substitution - coding silent 12:68828895-68828895 + CHC304T COSM4788440 c.313A>G p.I105V Substitution - Missense 12:68820329-68820329 + PD7199a COSM5781839 c.1325A>G p.E442G Substitution - Missense 12:68839680-68839680 + TCGA-BS-A0UJ-01 COSM942909 c.1194A>G p.E398E Substitution - coding silent 12:68839549-68839549 + TCGA-AP-A056-01 COSM942905 c.678G>A p.S226S Substitution - coding silent 12:68828925-68828925 + SH-2871 COSM5019617 c.1080A>G p.E360E Substitution - coding silent 12:68839435-68839435 + TCGA-BS-A0UJ-01 COSM942908 c.1154A>G p.D385G Substitution - Missense 12:68839509-68839509 + EGCT1102 COSM5749131 c.995G>A p.R332H Substitution - Missense 12:68839350-68839350 + B23-Tumor COSM1747209 c.469C>T p.H157Y Substitution - Missense 12:68824597-68824597 + SH-7166 COSM5020625 c.607C>T p.L203L Substitution - coding silent 12:68828854-68828854 + Pat_26_A COSM5841792 c.1181_1182delCA p.Q395fs*3 Deletion - Frameshift 12:68839536-68839537 + 2492710 COSM5717684 c.832G>A p.D278N Substitution - Missense 12:68835976-68835976 + CHC155T COSM217034 c.614T>A p.L205Q Substitution - Missense 12:68828861-68828861 + TCGA-BR-6452-01 COSM4044442 c.22T>C p.C8R Substitution - Missense 12:68809215-68809215 + HT115 COSM2099333 c.1425G>T p.K475N Substitution - Missense 12:68839780-68839780 + PD13164a COSM5770324 c.684+9C>T p.? Unknown 12:68828940-68828940 + Pat_46_B COSM5841794 c.1274C>T p.T425I Substitution - Missense 12:68839629-68839629 + TCGA-B5-A0JY-01 COSM942905 c.678G>A p.S226S Substitution - coding silent 12:68828925-68828925 + ccRCC-92 COSM1662731 c.146C>A p.A49E Substitution - Missense 12:68813600-68813600 + CHC306T COSM3667209 c.1291A>T p.S431C Substitution - Missense 12:68839646-68839646 + LS411 COSM1363876 c.955delC p.L321fs*52 Deletion - Frameshift 12:68839310-68839310 + SJHGG034_D COSM3399021 c.280G>A p.V94M Substitution - Missense 12:68816917-68816917 + pfg008T COSM1639228 c.840+7delT p.? Unknown 12:68835991-68835991 + PD11816a COSM5783386 c.994C>G p.R332G Substitution - Missense 12:68839349-68839349 + 2011-2357:2012-292-T COSM4605490 c.494C>G p.S165* Substitution - Nonsense 12:68824622-68824622 + TCGA-B5-A11E-01 COSM942911 c.1461A>G p.P487P Substitution - coding silent 12:68839816-68839816 + SH-9161 COSM5019617 c.1080A>G p.E360E Substitution - coding silent 12:68839435-68839435 + Pat_46_A COSM5841794 c.1274C>T p.T425I Substitution - Missense 12:68839629-68839629 + TCGA-AA-A022-01 COSM5117070 c.954_955insC p.L321fs*13 Insertion - Frameshift 12:68839309-68839310 + TCGA-AA-3976-01 COSM5117070 c.954_955insC p.L321fs*13 Insertion - Frameshift 12:68839309-68839310 + TCGA-CM-5861-01 COSM1363880 c.1027G>A p.D343N Substitution - Missense 12:68839382-68839382 + 46M COSM5588267 c.919G>A p.D307N Substitution - Missense 12:68839274-68839274 + CPCG_0006_Pr_P_F0 COSM3396088 c.38C>G p.S13C Substitution - Missense 12:68809231-68809231 + 587222 COSM1214766 c.701T>C p.V234A Substitution - Missense 12:68835845-68835845 + TCGA-AA-A010-01 COSM282733 c.630G>T p.E210D Substitution - Missense 12:68828877-68828877 + TCGA-02-0085-01 COSM35414 c.859T>C p.Y287H Substitution - Missense 12:68836690-68836690 + TCGA-BR-8365-01 COSM4044448 c.853A>C p.T285P Substitution - Missense 12:68836684-68836684 + TCGA-FU-A3HZ-01 COSM4840778 c.271T>G p.L91V Substitution - Missense 12:68816908-68816908 + TCGA-E2-A158-01 COSM1476865 c.4G>C p.V2L Substitution - Missense 12:68808481-68808481 + TCGA-D1-A103-01 COSM942907 c.890T>C p.F297S Substitution - Missense 12:68836721-68836721 + TCGA-BT-A20T-01 COSM416094 c.132A>G p.L44L Substitution - coding silent 12:68813586-68813586 + GCT27 COSM5749515 c.185A>T p.Y62F Substitution - Missense 12:68816822-68816822 + TCGA-DU-7309-01 COSM3968408 c.706G>C p.E236Q Substitution - Missense 12:68835850-68835850 + TCGA-AB-2952-03 COSM1317971 c.906A>C p.E302D Substitution - Missense 12:68836737-68836737 + B23 COSM1747209 c.469C>T p.H157Y Substitution - Missense 12:68824597-68824597 + ESO-120 COSM1257522 c.664A>T p.T222S Substitution - Missense 12:68828911-68828911 + I2L-P19Ta-Tumor-Biopsy COSM1639228 c.840+7delT p.? Unknown 12:68835991-68835991 + LUAD-NYU1051S COSM368555 c.662C>G p.S221C Substitution - Missense 12:68828909-68828909 + PT44 COSM431747 c.994C>T p.R332C Substitution - Missense 12:68839349-68839349 + TCGA-12-0618-01 COSM3399023 c.685-2A>G p.? Unknown 12:68835827-68835827 + 1360-01-01TD COSM5417028 c.87A>G p.E29E Substitution - coding silent 12:68809280-68809280 + TCGA-09-0367-01 COSM1323093 c.1335G>A p.V445V Substitution - coding silent 12:68839690-68839690 + HCC107 COSM1606548 c.566G>A p.R189H Substitution - Missense 12:68828813-68828813 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.484551 12q14.3-q15 164785 Hs.733451;Hs.733452;Hs.733453;Hs.733454;Hs.733457;Hs.733458;Hs.733459;Hs.733460;Hs.733461;Hs.733462;Hs.733463;Hs.733465;Hs.733467;Hs.733468;Hs.733469;Hs.733470;Hs.733471;Hs.733472;Hs.733473;Hs.733475;Hs.733477;Hs.733478;Hs.733479;Hs.733480;Hs.733481;Hs.733482;Hs.733483;Hs.733484;Hs.733485;Hs.733486;Hs.733487;Hs.733489;Hs.733490;Hs.733491;Hs.733492;Hs.733493;Hs.733496;Hs.733497;Hs.733498;Hs.733500;Hs.733502;Hs.733503;Hs.733505;Hs.733506;Hs.733507;Hs.733508;Hs.733509;Hs.733510;Hs.733511;Hs.733512;Hs.733514;Hs.733515;Hs.733516;Hs.733517;Hs.733519;Hs.733521;Hs.733523;Hs.733524;Hs.733525;Hs.733526;Hs.733527;Hs.733528;Hs.733531;Hs.733532;Hs.733533;Hs.733534;Hs.733535;Hs.733536 12q14.3-q15 600473;610877;164785

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E302D c.906A>C 12 69230517 AML A C Missense p.Q146P c.437A>C 12 69218345 LUSC A G Missense p.I195V c.583A>G 12 69222610 STAD A G Missense p.I446V c.1336A>G 12 69233471 HNSC A G SpliceAcceptorSNV . c.685-2A>G 12 69229607 GBM A G Synonymous p.L44L c.132A>G 12 69207366 BLCA A T 3-UTRSNV . c.1491+324A>T 12 69233950 HC A T Missense p.T222S c.664A>T 12 69222691 ESCA C A Synonymous p.T107T c.321C>A 12 69214117 CM C G Missense p.P15R c.44C>G 12 69203017 CM C G Missense p.P228R c.683C>G 12 69222710 CM C T IntronicSNV . c.359-18C>T 12 69218125 CM C T IntronicSNV . c.523+48C>T 12 69218479 CM C T IntronicSNV . c.841-65C>T 12 69230387 CM C T Missense p.L40F c.118C>T 12 69207352 CM C T Missense p.R332C c.994C>T 12 69233129 BRCA C T Synonymous p.L260L c.780C>T 12 69229704 STAD G A Missense p.S413N c.1238G>A 12 69233373 UCEC G A Missense p.V94M c.280G>A 12 69210697 GBM G C Missense p.E236Q c.706G>C 12 69229630 LGG G C Missense p.V2L c.4G>C 12 69202261 BRCA GG TT Missense p.R422I c.1265_1266delinsTT 12 69233400 CM G T IntronicSNV . c.841-62G>T 12 69230390 HC G T Missense p.G345W c.1033G>T 12 69233168 CM G T Missense p.M465I c.1395G>T 12 69233530 LUAD G T Missense p.W335L c.1004G>T 12 69233139 CM G T Nonsense p.E421* c.1261G>T 12 69233396 STAD G T SpliceAcceptorSNV . c.359-1G>T 12 69218142 LUAD T A Missense p.C447S c.1339T>A 12 69233474 LUSC T A Missense p.L205Q c.614T>A 12 69222641 HC T C IntronicSNV . c.308+69T>C 12 69210794 CM T C Missense p.L205P c.614T>C 12 69222641 DLBCL T C Missense p.S304P c.910T>C 12 69230521 LGG T C Synonymous p.F255F c.765T>C 12 69229689 UCEC T G 3-UTRSNV . c.1491+4235T>G 12 69237861 HC T G Missense p.W335G c.1003T>G 12 69233138 LUAD T - IntronicDeletion . c.840+14delT 12 69229771 STAD - T IntronicInsertion . c.918+224dupT 12 69230736 CM