Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 12 64858237 64858237 + Missense_Mutation SNP G G A TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr12:64858237G>A c.352G>A c.(352-354)Gat>Aat p.D118N BLCA 12 64868152 64868152 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 g.chr12:64868152G>A c.683G>A c.(682-684)cGt>cAt p.R228H BLCA 12 64875665 64875665 + Missense_Mutation SNP G G C TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr12:64875665G>C c.856G>C c.(856-858)Gaa>Caa p.E286Q BLCA 12 64875732 64875732 + Missense_Mutation SNP G G A TCGA-GV-A40G-01A-11D-A23M-08 TCGA-GV-A40G-10A-01D-A23K-08 g.chr12:64875732G>A c.923G>A c.(922-924)cGa>cAa p.R308Q BLCA 12 64882283 64882283 + Missense_Mutation SNP G G A TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 g.chr12:64882283G>A c.1357G>A c.(1357-1359)Gat>Aat p.D453N BLCA 12 64890995 64890995 + Missense_Mutation SNP G G C TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr12:64890995G>C c.1915G>C c.(1915-1917)Gat>Cat p.D639H BLCA 12 64891001 64891001 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr12:64891001G>A c.1921G>A c.(1921-1923)Gaa>Aaa p.E641K BRCA 12 64849731 64849731 + Missense_Mutation SNP A A T TCGA-AN-A0FW-01A-11W-A050-09 TCGA-AN-A0FW-10A-01W-A055-09 g.chr12:64849731A>T c.81A>T c.(79-81)agA>agT p.R27S BRCA 12 64875760 64875760 + Silent SNP A A G TCGA-B6-A0RH-01A-21D-A10Y-09 TCGA-B6-A0RH-10A-01D-A110-09 g.chr12:64875760A>G c.951A>G c.(949-951)caA>caG p.Q317Q BRCA 12 64878170 64878170 + Silent SNP C C G TCGA-AN-A0AM-01A-11W-A050-09 TCGA-AN-A0AM-10A-01W-A055-09 g.chr12:64878170C>G c.1080C>G c.(1078-1080)gtC>gtG p.V360V CESC 12 64849669 64849669 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr12:64849669C>T c.19C>T c.(19-21)Cat>Tat p.H7Y CESC 12 64858234 64858234 + Nonsense_Mutation SNP C C T TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr12:64858234C>T c.349C>T c.(349-351)Cga>Tga p.R117* CESC 12 64890164 64890164 + Missense_Mutation SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr12:64890164G>A c.1738G>A c.(1738-1740)Gaa>Aaa p.E580K COAD 12 64854048 64854048 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:64854048T>G c.167T>G c.(166-168)tTt>tGt p.F56C COAD 12 64860680 64860680 + Splice_Site SNP G G T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr12:64860680G>T c.e5-1 COAD 12 64873877 64873877 + Missense_Mutation SNP A A G TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr12:64873877A>G c.787A>G c.(787-789)Atg>Gtg p.M263V COAD 12 64875633 64875633 + Missense_Mutation SNP T T A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr12:64875633T>A c.824T>A c.(823-825)gTt>gAt p.V275D COAD 12 64875755 64875755 + Silent SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr12:64875755C>T c.946C>T c.(946-948)Cta>Tta p.L316L COAD 12 64878153 64878153 + Missense_Mutation SNP G G A TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr12:64878153G>A c.1063G>A c.(1063-1065)Gaa>Aaa p.E355K COAD 12 64878159 64878159 + Nonsense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr12:64878159C>T c.1069C>T c.(1069-1071)Cga>Tga p.R357* COAD 12 64878256 64878256 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:64878256C>T c.1166C>T c.(1165-1167)aCc>aTc p.T389I COAD 12 64889344 64889344 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr12:64889344G>A c.1603G>A c.(1603-1605)Gca>Aca p.A535T COAD 12 64889346 64889346 + Silent SNP A A G TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr12:64889346A>G c.1605A>G c.(1603-1605)gcA>gcG p.A535A COAD 12 64889555 64889555 + Splice_Site SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:64889555A>G c.1720A>G c.(1720-1722)Aga>Gga p.R574G COAD 12 64890765 64890765 + Silent SNP G G A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr12:64890765G>A c.1797G>A c.(1795-1797)acG>acA p.T599T COAD 12 64890975 64890975 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:64890975C>T c.1895C>T c.(1894-1896)tCg>tTg p.S632L COAD 12 64891438 64891439 + Frame_Shift_Del DEL CT CT - TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr12:64891438_64891439delCT c.1970_1971delCT c.(1969-1971)actfs p.T657fs COADREAD 12 64854048 64854048 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:64854048T>G c.167T>G c.(166-168)tTt>tGt p.F56C COADREAD 12 64860680 64860680 + Splice_Site SNP G G T TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr12:64860680G>T c.e5-1 COADREAD 12 64873877 64873877 + Missense_Mutation SNP A A G TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr12:64873877A>G c.787A>G c.(787-789)Atg>Gtg p.M263V COADREAD 12 64875633 64875633 + Missense_Mutation SNP T T A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr12:64875633T>A c.824T>A c.(823-825)gTt>gAt p.V275D COADREAD 12 64875755 64875755 + Silent SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr12:64875755C>T c.946C>T c.(946-948)Cta>Tta p.L316L COADREAD 12 64878130 64878130 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:64878130C>A c.1040C>A c.(1039-1041)tCt>tAt p.S347Y COADREAD 12 64878153 64878153 + Missense_Mutation SNP G G A TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr12:64878153G>A c.1063G>A c.(1063-1065)Gaa>Aaa p.E355K COADREAD 12 64878159 64878159 + Nonsense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr12:64878159C>T c.1069C>T c.(1069-1071)Cga>Tga p.R357* COADREAD 12 64878186 64878186 + Silent SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr12:64878186C>T c.1096C>T c.(1096-1098)Ctg>Ttg p.L366L COADREAD 12 64878256 64878256 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr12:64878256C>T c.1166C>T c.(1165-1167)aCc>aTc p.T389I COADREAD 12 64889344 64889344 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr12:64889344G>A c.1603G>A c.(1603-1605)Gca>Aca p.A535T COADREAD 12 64889346 64889346 + Silent SNP A A G TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr12:64889346A>G c.1605A>G c.(1603-1605)gcA>gcG p.A535A COADREAD 12 64889555 64889555 + Splice_Site SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:64889555A>G c.1720A>G c.(1720-1722)Aga>Gga p.R574G COADREAD 12 64890765 64890765 + Silent SNP G G A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr12:64890765G>A c.1797G>A c.(1795-1797)acG>acA p.T599T COADREAD 12 64890975 64890975 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:64890975C>T c.1895C>T c.(1894-1896)tCg>tTg p.S632L COADREAD 12 64891438 64891439 + Frame_Shift_Del DEL CT CT - TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr12:64891438_64891439delCT c.1970_1971delCT c.(1969-1971)actfs p.T657fs ESCA 12 64868147 64868147 + Silent SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr12:64868147G>T c.678G>T c.(676-678)ggG>ggT p.G226G GBMLGG 12 64853996 64853996 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:64853996G>T c.115G>T c.(115-117)Gta>Tta p.V39L GBMLGG 12 64891776 64891776 + Missense_Mutation SNP G G A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 g.chr12:64891776G>A c.2095G>A c.(2095-2097)Ggg>Agg p.G699R HNSC 12 64878099 64878099 + Missense_Mutation SNP G G A TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 g.chr12:64878099G>A c.1009G>A c.(1009-1011)Gaa>Aaa p.E337K HNSC 12 64891448 64891448 + Missense_Mutation SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 g.chr12:64891448G>C c.1980G>C c.(1978-1980)caG>caC p.Q660H HNSC 12 64891804 64891804 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:64891804A>G c.2123A>G c.(2122-2124)aAc>aGc p.N708S KICH 12 64873884 64873884 + Missense_Mutation SNP T T C TCGA-KN-8430-01A-11D-2310-10 TCGA-KN-8430-11A-01D-2311-10 g.chr12:64873884T>C c.794T>C c.(793-795)gTt>gCt p.V265A KIPAN 12 64860793 64860793 + Missense_Mutation SNP T T G TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr12:64860793T>G c.471T>G c.(469-471)gaT>gaG p.D157E KIPAN 12 64873884 64873884 + Missense_Mutation SNP T T C TCGA-KN-8430-01A-11D-2310-10 TCGA-KN-8430-11A-01D-2311-10 g.chr12:64873884T>C c.794T>C c.(793-795)gTt>gCt p.V265A KIPAN 12 64889519 64889519 + Missense_Mutation SNP A A C TCGA-B4-5832-01A-11D-1669-08 TCGA-B4-5832-10A-01D-1669-08 g.chr12:64889519A>C c.1684A>C c.(1684-1686)Att>Ctt p.I562L KIRC 12 64889519 64889519 + Missense_Mutation SNP A A C TCGA-B4-5832-01A-11D-1669-08 TCGA-B4-5832-10A-01D-1669-08 g.chr12:64889519A>C c.1684A>C c.(1684-1686)Att>Ctt p.I562L KIRP 12 64860793 64860793 + Missense_Mutation SNP T T G TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr12:64860793T>G c.471T>G c.(469-471)gaT>gaG p.D157E LGG 12 64853996 64853996 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:64853996G>T c.115G>T c.(115-117)Gta>Tta p.V39L LGG 12 64891776 64891776 + Missense_Mutation SNP G G A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 g.chr12:64891776G>A c.2095G>A c.(2095-2097)Ggg>Agg p.G699R LIHC 12 64878199 64878199 + Missense_Mutation SNP T T C TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr12:64878199T>C c.1109T>C c.(1108-1110)tTc>tCc p.F370S LIHC 12 64882345 64882345 + Silent SNP A A G TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr12:64882345A>G c.1419A>G c.(1417-1419)agA>agG p.R473R LIHC 12 64889483 64889483 + Missense_Mutation SNP G G C TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chr12:64889483G>C c.1648G>C c.(1648-1650)Gaa>Caa p.E550Q LUAD 12 64860683 64860683 + Missense_Mutation SNP G G T TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr12:64860683G>T c.361G>T c.(361-363)Ggt>Tgt p.G121C LUAD 12 64868016 64868016 + Missense_Mutation SNP G G T TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr12:64868016G>T c.547G>T c.(547-549)Gat>Tat p.D183Y LUAD 12 64875778 64875778 + Missense_Mutation SNP G G C TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 g.chr12:64875778G>C c.969G>C c.(967-969)aaG>aaC p.K323N LUAD 12 64878273 64878273 + Missense_Mutation SNP G G C TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr12:64878273G>C c.1183G>C c.(1183-1185)Gaa>Caa p.E395Q LUSC 12 64854058 64854058 + Missense_Mutation SNP G G T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr12:64854058G>T c.177G>T c.(175-177)ttG>ttT p.L59F LUSC 12 64879294 64879294 + Splice_Site SNP G G C TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr12:64879294G>C c.e10+1 LUSC 12 64891754 64891754 + Missense_Mutation SNP G G C TCGA-46-6026-01A-11D-1817-08 TCGA-46-6026-10A-01D-1817-08 g.chr12:64891754G>C c.2073G>C c.(2071-2073)aaG>aaC p.K691N OV 12 64889316 64889316 + Missense_Mutation SNP A A T TCGA-13-0903-01A-01W-0421-09 TCGA-13-0903-10A-01W-0421-09 g.chr12:64889316A>T c.1575A>T c.(1573-1575)agA>agT p.R525S PAAD 12 64895141 64895141 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:64895141C>T c.2170C>T c.(2170-2172)Cgc>Tgc p.R724C PRAD 12 64890177 64890177 + Missense_Mutation SNP A A G TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 g.chr12:64890177A>G c.1751A>G c.(1750-1752)aAa>aGa p.K584R READ 12 64878130 64878130 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:64878130C>A c.1040C>A c.(1039-1041)tCt>tAt p.S347Y READ 12 64878186 64878186 + Silent SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr12:64878186C>T c.1096C>T c.(1096-1098)Ctg>Ttg p.L366L SKCM 12 64849723 64849723 + Missense_Mutation SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr12:64849723C>T c.73C>T c.(73-75)Cgt>Tgt p.R25C SKCM 12 64854024 64854024 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:64854024C>T c.143C>T c.(142-144)cCa>cTa p.P48L SKCM 12 64858153 64858153 + Missense_Mutation SNP C C T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 g.chr12:64858153C>T c.268C>T c.(268-270)Cca>Tca p.P90S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 12 64868152 64868152 single base substitution G A missense_variant R228H 683G>A BLCA-US 12 64875732 64875732 single base substitution G A missense_variant R308Q 923G>A BLCA-US 12 64875732 64875732 single base substitution G A upstream_gene_variant BLCA-US 12 64882283 64882283 single base substitution G A downstream_gene_variant BLCA-US 12 64882283 64882283 single base substitution G A exon_variant BLCA-US 12 64882283 64882283 single base substitution G A missense_variant D453N 1357G>A BOCA-FR 12 64880812 64880812 single base substitution G T downstream_gene_variant BOCA-FR 12 64880812 64880812 single base substitution G T intron_variant BRCA-EU 12 64842270 64842270 single base substitution G C upstream_gene_variant BRCA-EU 12 64843527 64843527 single base substitution G A upstream_gene_variant BRCA-EU 12 64843869 64843869 single base substitution G C upstream_gene_variant BRCA-EU 12 64844068 64844068 single base substitution A G upstream_gene_variant BRCA-EU 12 64844100 64844100 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 64844100 64844100 insertion of <=200bp - T upstream_gene_variant BRCA-EU 12 64845501 64845501 single base substitution G A upstream_gene_variant BRCA-EU 12 64845796 64845796 single base substitution C G 5_prime_UTR_variant BRCA-EU 12 64845796 64845796 single base substitution C G upstream_gene_variant BRCA-EU 12 64847174 64847174 single base substitution G A intron_variant BRCA-EU 12 64847284 64847284 single base substitution T G intron_variant BRCA-EU 12 64847930 64847930 single base substitution C T intron_variant BRCA-EU 12 64849612 64849612 single base substitution T G intron_variant BRCA-EU 12 64849612 64849612 single base substitution T G splice_region_variant BRCA-EU 12 64850070 64850070 single base substitution G C intron_variant BRCA-EU 12 64851300 64851300 single base substitution A T intron_variant BRCA-EU 12 64851714 64851714 single base substitution G C intron_variant BRCA-EU 12 64852543 64852543 single base substitution G A intron_variant BRCA-EU 12 64855122 64855122 single base substitution G A intron_variant BRCA-EU 12 64855820 64855820 single base substitution C A intron_variant BRCA-EU 12 64856906 64856906 single base substitution C G intron_variant BRCA-EU 12 64858587 64858587 single base substitution G A downstream_gene_variant BRCA-EU 12 64858587 64858587 single base substitution G A intron_variant BRCA-EU 12 64860248 64860248 single base substitution G A downstream_gene_variant BRCA-EU 12 64860248 64860248 single base substitution G A intron_variant BRCA-EU 12 64861241 64861241 single base substitution G A downstream_gene_variant BRCA-EU 12 64861241 64861241 single base substitution G A intron_variant BRCA-EU 12 64861592 64861592 single base substitution G A downstream_gene_variant BRCA-EU 12 64861592 64861592 single base substitution G A intron_variant BRCA-EU 12 64861674 64861674 single base substitution A G downstream_gene_variant BRCA-EU 12 64861674 64861674 single base substitution A G intron_variant BRCA-EU 12 64861746 64861746 single base substitution T G downstream_gene_variant BRCA-EU 12 64861746 64861746 single base substitution T G intron_variant BRCA-EU 12 64861869 64861869 single base substitution G C downstream_gene_variant BRCA-EU 12 64861869 64861869 single base substitution G C intron_variant BRCA-EU 12 64861978 64861978 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 64861978 64861978 deletion of <=200bp A - intron_variant BRCA-EU 12 64862353 64862353 single base substitution A T downstream_gene_variant BRCA-EU 12 64862353 64862353 single base substitution A T intron_variant BRCA-EU 12 64863004 64863004 single base substitution G A downstream_gene_variant BRCA-EU 12 64863004 64863004 single base substitution G A intron_variant BRCA-EU 12 64865442 64865442 single base substitution T C intron_variant BRCA-EU 12 64866326 64866326 single base substitution G T intron_variant BRCA-EU 12 64866910 64866910 single base substitution G T intron_variant BRCA-EU 12 64867456 64867456 single base substitution A G intron_variant BRCA-EU 12 64868353 64868353 single base substitution G C intron_variant BRCA-EU 12 64868525 64868525 single base substitution G C intron_variant BRCA-EU 12 64869259 64869259 single base substitution G T intron_variant BRCA-EU 12 64869618 64869618 single base substitution C A intron_variant BRCA-EU 12 64869809 64869809 deletion of <=200bp T - intron_variant BRCA-EU 12 64870541 64870541 single base substitution G C intron_variant BRCA-EU 12 64870978 64870978 single base substitution G T intron_variant BRCA-EU 12 64872079 64872079 single base substitution C T intron_variant BRCA-EU 12 64873437 64873437 deletion of <=200bp T - intron_variant BRCA-EU 12 64873437 64873437 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 64874038 64874038 single base substitution G C intron_variant BRCA-EU 12 64874038 64874038 single base substitution G C upstream_gene_variant BRCA-EU 12 64875823 64875823 single base substitution T C intron_variant BRCA-EU 12 64875823 64875823 single base substitution T C upstream_gene_variant BRCA-EU 12 64877443 64877443 single base substitution C G intron_variant BRCA-EU 12 64877443 64877443 single base substitution C G upstream_gene_variant BRCA-EU 12 64878918 64878918 single base substitution C G intron_variant BRCA-EU 12 64879943 64879943 single base substitution C T downstream_gene_variant BRCA-EU 12 64879943 64879943 single base substitution C T intron_variant BRCA-EU 12 64880137 64880137 single base substitution G T downstream_gene_variant BRCA-EU 12 64880137 64880137 single base substitution G T intron_variant BRCA-EU 12 64881202 64881202 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 64881202 64881202 deletion of <=200bp T - intron_variant BRCA-EU 12 64881875 64881875 single base substitution G C downstream_gene_variant BRCA-EU 12 64881875 64881875 single base substitution G C intron_variant BRCA-EU 12 64883420 64883420 single base substitution C G downstream_gene_variant BRCA-EU 12 64883420 64883420 single base substitution C G intron_variant BRCA-EU 12 64883920 64883920 single base substitution G A downstream_gene_variant BRCA-EU 12 64883920 64883920 single base substitution G A intron_variant BRCA-EU 12 64884578 64884578 single base substitution T A downstream_gene_variant BRCA-EU 12 64884578 64884578 single base substitution T A intron_variant BRCA-EU 12 64884578 64884578 single base substitution T A upstream_gene_variant BRCA-EU 12 64885304 64885304 single base substitution G C downstream_gene_variant BRCA-EU 12 64885304 64885304 single base substitution G C intron_variant BRCA-EU 12 64885304 64885304 single base substitution G C upstream_gene_variant BRCA-EU 12 64885386 64885387 deletion of <=200bp AG - downstream_gene_variant BRCA-EU 12 64885386 64885387 deletion of <=200bp AG - intron_variant BRCA-EU 12 64885386 64885387 deletion of <=200bp AG - upstream_gene_variant BRCA-EU 12 64887607 64887607 single base substitution A G intron_variant BRCA-EU 12 64887607 64887607 single base substitution A G upstream_gene_variant BRCA-EU 12 64888491 64888491 single base substitution G C intron_variant BRCA-EU 12 64888491 64888491 single base substitution G C upstream_gene_variant BRCA-EU 12 64888693 64888693 single base substitution C A intron_variant BRCA-EU 12 64888693 64888693 single base substitution C A upstream_gene_variant BRCA-EU 12 64889709 64889709 single base substitution A T exon_variant BRCA-EU 12 64889709 64889709 single base substitution A T intron_variant BRCA-EU 12 64889709 64889709 single base substitution A T upstream_gene_variant BRCA-EU 12 64892529 64892529 single base substitution A T downstream_gene_variant BRCA-EU 12 64892529 64892529 single base substitution A T intron_variant BRCA-EU 12 64895284 64895284 single base substitution A G 3_prime_UTR_variant BRCA-EU 12 64895284 64895284 single base substitution A G downstream_gene_variant BRCA-EU 12 64895859 64895859 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 64895859 64895859 single base substitution C T downstream_gene_variant BRCA-EU 12 64896512 64896512 insertion of <=200bp - TTTCAGACTGGTGAAGTG downstream_gene_variant BRCA-EU 12 64896921 64896921 single base substitution G A downstream_gene_variant BRCA-EU 12 64898246 64898246 single base substitution C A downstream_gene_variant BRCA-EU 12 64899301 64899301 single base substitution G A downstream_gene_variant BRCA-FR 12 64843869 64843869 single base substitution G C upstream_gene_variant BRCA-FR 12 64847930 64847930 single base substitution C T intron_variant BRCA-FR 12 64850070 64850070 single base substitution G C intron_variant BRCA-FR 12 64851714 64851714 single base substitution G C intron_variant BRCA-FR 12 64852543 64852543 single base substitution G A intron_variant BRCA-FR 12 64858587 64858587 single base substitution G A downstream_gene_variant BRCA-FR 12 64858587 64858587 single base substitution G A intron_variant BRCA-FR 12 64861869 64861869 single base substitution G C downstream_gene_variant BRCA-FR 12 64861869 64861869 single base substitution G C intron_variant BRCA-FR 12 64868525 64868525 single base substitution G C intron_variant BRCA-FR 12 64870098 64870098 single base substitution C T intron_variant BRCA-FR 12 64872712 64872712 single base substitution G A intron_variant BRCA-FR 12 64885304 64885304 single base substitution G C downstream_gene_variant BRCA-FR 12 64885304 64885304 single base substitution G C intron_variant BRCA-FR 12 64885304 64885304 single base substitution G C upstream_gene_variant BRCA-FR 12 64896921 64896921 single base substitution G A downstream_gene_variant BRCA-UK 12 64841500 64841500 single base substitution C T upstream_gene_variant BRCA-UK 12 64849689 64849689 single base substitution T A missense_variant D13E 39T>A BRCA-UK 12 64849689 64849689 single base substitution T A splice_region_variant BRCA-UK 12 64855820 64855820 single base substitution C A intron_variant BRCA-UK 12 64858907 64858907 single base substitution G A downstream_gene_variant BRCA-UK 12 64858907 64858907 single base substitution G A intron_variant BRCA-UK 12 64870978 64870978 single base substitution G T intron_variant BRCA-UK 12 64884494 64884494 single base substitution G A downstream_gene_variant BRCA-UK 12 64884494 64884494 single base substitution G A intron_variant BRCA-UK 12 64884494 64884494 single base substitution G A upstream_gene_variant BRCA-UK 12 64884603 64884603 single base substitution G A downstream_gene_variant BRCA-UK 12 64884603 64884603 single base substitution G A intron_variant BRCA-UK 12 64884603 64884603 single base substitution G A upstream_gene_variant BRCA-US 12 64849731 64849731 single base substitution A T 5_prime_UTR_variant BRCA-US 12 64849731 64849731 single base substitution A T missense_variant R27S 81A>T BRCA-US 12 64875760 64875760 single base substitution A G synonymous_variant Q317Q 951A>G BRCA-US 12 64875760 64875760 single base substitution A G upstream_gene_variant BRCA-US 12 64878170 64878170 single base substitution C G exon_variant BRCA-US 12 64878170 64878170 single base substitution C G synonymous_variant V360V 1080C>G BRCA-US 12 64878170 64878170 single base substitution C G upstream_gene_variant BTCA-JP 12 64891848 64891848 single base substitution T C downstream_gene_variant BTCA-JP 12 64891848 64891848 single base substitution T C intron_variant CESC-US 12 64849669 64849669 single base substitution C T intron_variant CESC-US 12 64849669 64849669 single base substitution C T missense_variant H7Y 19C>T CESC-US 12 64858234 64858234 single base substitution C T downstream_gene_variant CESC-US 12 64858234 64858234 single base substitution C T stop_gained R117* 349C>T CESC-US 12 64890164 64890164 single base substitution G A downstream_gene_variant CESC-US 12 64890164 64890164 single base substitution G A missense_variant E580K 1738G>A CESC-US 12 64890164 64890164 single base substitution G A upstream_gene_variant CLLE-ES 12 64846515 64846515 single base substitution A G intron_variant CLLE-ES 12 64857649 64857649 single base substitution T G intron_variant CLLE-ES 12 64861842 64861842 single base substitution T G downstream_gene_variant CLLE-ES 12 64861842 64861842 single base substitution T G intron_variant CLLE-ES 12 64862184 64862184 single base substitution T A downstream_gene_variant CLLE-ES 12 64862184 64862184 single base substitution T A intron_variant CLLE-ES 12 64894629 64894629 single base substitution C T downstream_gene_variant CLLE-ES 12 64894629 64894629 single base substitution C T intron_variant COAD-US 12 64875787 64875787 single base substitution T A synonymous_variant I326I 978T>A COAD-US 12 64875787 64875787 single base substitution T A upstream_gene_variant COAD-US 12 64878153 64878153 single base substitution G A exon_variant COAD-US 12 64878153 64878153 single base substitution G A missense_variant E355K 1063G>A COAD-US 12 64878153 64878153 single base substitution G A upstream_gene_variant COAD-US 12 64889555 64889555 single base substitution A G exon_variant COAD-US 12 64889555 64889555 single base substitution A G missense_variant R574G 1720A>G COAD-US 12 64889555 64889555 single base substitution A G upstream_gene_variant COAD-US 12 64890765 64890765 single base substitution G A downstream_gene_variant COAD-US 12 64890765 64890765 single base substitution G A synonymous_variant T599T 1797G>A COAD-US 12 64890765 64890765 single base substitution G A upstream_gene_variant COAD-US 12 64891438 64891439 deletion of <=200bp CT - downstream_gene_variant COAD-US 12 64891438 64891439 deletion of <=200bp CT - exon_variant COAD-US 12 64891438 64891439 deletion of <=200bp CT - frameshift_variant T657 COAD-US 12 64895129 64895129 single base substitution G T downstream_gene_variant COAD-US 12 64895129 64895129 single base substitution G T missense_variant D720Y 2158G>T COCA-CN 12 64860761 64860761 single base substitution G A downstream_gene_variant COCA-CN 12 64860761 64860761 single base substitution G A missense_variant E147K 439G>A COCA-CN 12 64867980 64867980 single base substitution A G intron_variant COCA-CN 12 64875589 64875589 single base substitution C A intron_variant COCA-CN 12 64875589 64875589 single base substitution C A upstream_gene_variant COCA-CN 12 64875626 64875626 single base substitution C A missense_variant L273I 817C>A COCA-CN 12 64875626 64875626 single base substitution C A upstream_gene_variant COCA-CN 12 64878128 64878128 single base substitution T G exon_variant COCA-CN 12 64878128 64878128 single base substitution T G missense_variant I346M 1038T>G COCA-CN 12 64878128 64878128 single base substitution T G upstream_gene_variant COCA-CN 12 64879693 64879693 single base substitution A G downstream_gene_variant COCA-CN 12 64879693 64879693 single base substitution A G exon_variant COCA-CN 12 64879693 64879693 single base substitution A G intron_variant COCA-CN 12 64889400 64889400 single base substitution A G intron_variant COCA-CN 12 64889400 64889400 single base substitution A G upstream_gene_variant COCA-CN 12 64889411 64889411 single base substitution C A intron_variant COCA-CN 12 64889411 64889411 single base substitution C A upstream_gene_variant COCA-CN 12 64892817 64892817 single base substitution C T downstream_gene_variant COCA-CN 12 64892817 64892817 single base substitution C T intron_variant COCA-CN 12 64895202 64895202 single base substitution G T 3_prime_UTR_variant COCA-CN 12 64895202 64895202 single base substitution G T downstream_gene_variant ESAD-UK 12 64845631 64845631 single base substitution G C upstream_gene_variant ESAD-UK 12 64845722 64845722 single base substitution G A 5_prime_UTR_variant ESAD-UK 12 64845722 64845722 single base substitution G A upstream_gene_variant ESAD-UK 12 64848194 64848194 insertion of <=200bp - T intron_variant ESAD-UK 12 64852250 64852251 deletion of <=200bp AG - intron_variant ESAD-UK 12 64853422 64853422 single base substitution C T intron_variant ESAD-UK 12 64855985 64855985 single base substitution G C intron_variant ESAD-UK 12 64857649 64857649 single base substitution T G intron_variant ESAD-UK 12 64858268 64858268 single base substitution T C downstream_gene_variant ESAD-UK 12 64858268 64858268 single base substitution T C intron_variant ESAD-UK 12 64858692 64858692 single base substitution A G downstream_gene_variant ESAD-UK 12 64858692 64858692 single base substitution A G intron_variant ESAD-UK 12 64859788 64859788 insertion of <=200bp - A downstream_gene_variant ESAD-UK 12 64859788 64859788 insertion of <=200bp - A intron_variant ESAD-UK 12 64866039 64866039 single base substitution C A intron_variant ESAD-UK 12 64866566 64866566 single base substitution T A intron_variant ESAD-UK 12 64867421 64867421 single base substitution A T intron_variant ESAD-UK 12 64868469 64868469 single base substitution G T intron_variant ESAD-UK 12 64868957 64868957 insertion of <=200bp - T intron_variant ESAD-UK 12 64873532 64873532 single base substitution C G intron_variant ESAD-UK 12 64873532 64873532 single base substitution C G upstream_gene_variant ESAD-UK 12 64874420 64874420 single base substitution A G intron_variant ESAD-UK 12 64874420 64874420 single base substitution A G upstream_gene_variant ESAD-UK 12 64875825 64875825 single base substitution G T intron_variant ESAD-UK 12 64875825 64875825 single base substitution G T upstream_gene_variant ESAD-UK 12 64875933 64875933 single base substitution A T intron_variant ESAD-UK 12 64875933 64875933 single base substitution A T upstream_gene_variant ESAD-UK 12 64876456 64876456 single base substitution A G intron_variant ESAD-UK 12 64876456 64876456 single base substitution A G upstream_gene_variant ESAD-UK 12 64878104 64878104 single base substitution G A exon_variant ESAD-UK 12 64878104 64878104 single base substitution G A synonymous_variant L338L 1014G>A ESAD-UK 12 64878104 64878104 single base substitution G A upstream_gene_variant ESAD-UK 12 64879973 64879973 single base substitution C A downstream_gene_variant ESAD-UK 12 64879973 64879973 single base substitution C A intron_variant ESAD-UK 12 64885172 64885172 single base substitution G A downstream_gene_variant ESAD-UK 12 64885172 64885172 single base substitution G A intron_variant ESAD-UK 12 64885172 64885172 single base substitution G A upstream_gene_variant ESAD-UK 12 64886074 64886074 deletion of <=200bp A - downstream_gene_variant ESAD-UK 12 64886074 64886074 deletion of <=200bp A - intron_variant ESAD-UK 12 64886074 64886074 deletion of <=200bp A - upstream_gene_variant ESAD-UK 12 64886547 64886547 single base substitution G A downstream_gene_variant ESAD-UK 12 64886547 64886547 single base substitution G A intron_variant ESAD-UK 12 64886547 64886547 single base substitution G A upstream_gene_variant ESAD-UK 12 64890073 64890073 single base substitution T A downstream_gene_variant ESAD-UK 12 64890073 64890073 single base substitution T A intron_variant ESAD-UK 12 64890073 64890073 single base substitution T A upstream_gene_variant ESAD-UK 12 64890524 64890524 deletion of <=200bp T - downstream_gene_variant ESAD-UK 12 64890524 64890524 deletion of <=200bp T - intron_variant ESAD-UK 12 64890524 64890524 deletion of <=200bp T - upstream_gene_variant ESAD-UK 12 64890935 64890935 single base substitution G C downstream_gene_variant ESAD-UK 12 64890935 64890935 single base substitution G C splice_region_variant ESAD-UK 12 64890995 64890995 single base substitution G C downstream_gene_variant ESAD-UK 12 64890995 64890995 single base substitution G C exon_variant ESAD-UK 12 64890995 64890995 single base substitution G C missense_variant D639H 1915G>C ESAD-UK 12 64891987 64891987 single base substitution G C downstream_gene_variant ESAD-UK 12 64891987 64891987 single base substitution G C intron_variant ESAD-UK 12 64892209 64892209 single base substitution G A downstream_gene_variant ESAD-UK 12 64892209 64892209 single base substitution G A intron_variant ESAD-UK 12 64894791 64894791 single base substitution G A downstream_gene_variant ESAD-UK 12 64894791 64894791 single base substitution G A intron_variant ESAD-UK 12 64894882 64894882 single base substitution T A downstream_gene_variant ESAD-UK 12 64894882 64894882 single base substitution T A intron_variant ESAD-UK 12 64898454 64898454 single base substitution G A downstream_gene_variant ESAD-UK 12 64898623 64898623 single base substitution T C downstream_gene_variant ESCA-CN 12 64842244 64842244 single base substitution A T upstream_gene_variant ESCA-CN 12 64891401 64891401 single base substitution C T downstream_gene_variant ESCA-CN 12 64891401 64891401 single base substitution C T intron_variant LGG-US 12 64891776 64891776 single base substitution G A downstream_gene_variant LGG-US 12 64891776 64891776 single base substitution G A missense_variant G699R 2095G>A LICA-CN 12 64875717 64875717 single base substitution G A missense_variant S303N 908G>A LICA-CN 12 64875717 64875717 single base substitution G A upstream_gene_variant LICA-FR 12 64859023 64859023 insertion of <=200bp - A downstream_gene_variant LICA-FR 12 64859023 64859023 insertion of <=200bp - A intron_variant LICA-FR 12 64865703 64865703 single base substitution G T intron_variant LICA-FR 12 64866356 64866356 single base substitution A G intron_variant LICA-FR 12 64891452 64891452 single base substitution A C downstream_gene_variant LICA-FR 12 64891452 64891452 single base substitution A C exon_variant LICA-FR 12 64891452 64891452 single base substitution A C missense_variant M662L 1984A>C LIHC-US 12 64889483 64889483 single base substitution G C exon_variant LIHC-US 12 64889483 64889483 single base substitution G C missense_variant E550Q 1648G>C LIHC-US 12 64889483 64889483 single base substitution G C upstream_gene_variant LINC-JP 12 64842233 64842233 single base substitution G A upstream_gene_variant LINC-JP 12 64863584 64863584 single base substitution C T intron_variant LINC-JP 12 64867866 64867866 single base substitution G A intron_variant LINC-JP 12 64868144 64868144 single base substitution A G synonymous_variant E225E 675A>G LINC-JP 12 64869323 64869323 single base substitution G A intron_variant LINC-JP 12 64873858 64873858 single base substitution A G synonymous_variant P256P 768A>G LINC-JP 12 64873858 64873858 single base substitution A G upstream_gene_variant LINC-JP 12 64875089 64875089 single base substitution A G intron_variant LINC-JP 12 64875089 64875089 single base substitution A G upstream_gene_variant LINC-JP 12 64888661 64888661 single base substitution C G intron_variant LINC-JP 12 64888661 64888661 single base substitution C G upstream_gene_variant LINC-JP 12 64890273 64890273 single base substitution A G downstream_gene_variant LINC-JP 12 64890273 64890273 single base substitution A G intron_variant LINC-JP 12 64890273 64890273 single base substitution A G upstream_gene_variant LINC-JP 12 64891158 64891158 single base substitution A T downstream_gene_variant LINC-JP 12 64891158 64891158 single base substitution A T intron_variant LINC-JP 12 64891485 64891485 single base substitution A G downstream_gene_variant LINC-JP 12 64891485 64891485 single base substitution A G exon_variant LINC-JP 12 64891485 64891485 single base substitution A G missense_variant M673V 2017A>G LINC-JP 12 64900500 64900500 single base substitution A T downstream_gene_variant LIRI-JP 12 64841794 64841794 deletion of <=200bp A - upstream_gene_variant LIRI-JP 12 64842611 64842611 single base substitution C T upstream_gene_variant LIRI-JP 12 64844777 64844777 single base substitution C T upstream_gene_variant LIRI-JP 12 64844792 64844792 single base substitution A G upstream_gene_variant LIRI-JP 12 64847439 64847445 deletion of <=200bp TACTTTT - intron_variant LIRI-JP 12 64849227 64849227 single base substitution A G intron_variant LIRI-JP 12 64852537 64852537 single base substitution G C intron_variant LIRI-JP 12 64855734 64855734 single base substitution C G intron_variant LIRI-JP 12 64856024 64856024 single base substitution C T intron_variant LIRI-JP 12 64856890 64856890 single base substitution G T intron_variant LIRI-JP 12 64859513 64859513 single base substitution T C downstream_gene_variant LIRI-JP 12 64859513 64859513 single base substitution T C intron_variant LIRI-JP 12 64862610 64862610 single base substitution C T downstream_gene_variant LIRI-JP 12 64862610 64862610 single base substitution C T intron_variant LIRI-JP 12 64862666 64862666 single base substitution C T downstream_gene_variant LIRI-JP 12 64862666 64862666 single base substitution C T intron_variant LIRI-JP 12 64865155 64865155 single base substitution C G intron_variant LIRI-JP 12 64866126 64866126 single base substitution A G intron_variant LIRI-JP 12 64866986 64866986 single base substitution A G intron_variant LIRI-JP 12 64868031 64868031 single base substitution G A missense_variant A188T 562G>A LIRI-JP 12 64870744 64870744 single base substitution G C intron_variant LIRI-JP 12 64871698 64871698 single base substitution G A intron_variant LIRI-JP 12 64874559 64874559 single base substitution G T intron_variant LIRI-JP 12 64874559 64874559 single base substitution G T upstream_gene_variant LIRI-JP 12 64878289 64878289 single base substitution G C intron_variant LIRI-JP 12 64878797 64878797 single base substitution T G intron_variant LIRI-JP 12 64878818 64878818 single base substitution A G intron_variant LIRI-JP 12 64878973 64878973 single base substitution G T intron_variant LIRI-JP 12 64879627 64879627 single base substitution T G downstream_gene_variant LIRI-JP 12 64879627 64879627 single base substitution T G exon_variant LIRI-JP 12 64879627 64879627 single base substitution T G intron_variant LIRI-JP 12 64881343 64881343 single base substitution C T downstream_gene_variant LIRI-JP 12 64881343 64881343 single base substitution C T intron_variant LIRI-JP 12 64883624 64883624 single base substitution G A downstream_gene_variant LIRI-JP 12 64883624 64883624 single base substitution G A intron_variant LIRI-JP 12 64883880 64883880 single base substitution T A downstream_gene_variant LIRI-JP 12 64883880 64883880 single base substitution T A missense_variant I501K 1502T>A LIRI-JP 12 64888499 64888499 single base substitution T A intron_variant LIRI-JP 12 64888499 64888499 single base substitution T A upstream_gene_variant LIRI-JP 12 64889242 64889242 single base substitution T A exon_variant LIRI-JP 12 64889242 64889242 single base substitution T A intron_variant LIRI-JP 12 64889242 64889242 single base substitution T A upstream_gene_variant LIRI-JP 12 64889755 64889755 single base substitution A G downstream_gene_variant LIRI-JP 12 64889755 64889755 single base substitution A G intron_variant LIRI-JP 12 64889755 64889755 single base substitution A G upstream_gene_variant LIRI-JP 12 64890170 64890170 single base substitution A T downstream_gene_variant LIRI-JP 12 64890170 64890170 single base substitution A T missense_variant I582F 1744A>T LIRI-JP 12 64890170 64890170 single base substitution A T upstream_gene_variant LIRI-JP 12 64892546 64892546 single base substitution G T downstream_gene_variant LIRI-JP 12 64892546 64892546 single base substitution G T intron_variant LIRI-JP 12 64895153 64895153 single base substitution T A downstream_gene_variant LIRI-JP 12 64895153 64895153 single base substitution T A missense_variant C728S 2182T>A LIRI-JP 12 64895525 64895525 single base substitution T G 3_prime_UTR_variant LIRI-JP 12 64895525 64895525 single base substitution T G downstream_gene_variant LIRI-JP 12 64895816 64895816 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 64895816 64895816 single base substitution A G downstream_gene_variant LIRI-JP 12 64896068 64896068 single base substitution A G downstream_gene_variant LIRI-JP 12 64896685 64896685 single base substitution A G downstream_gene_variant LIRI-JP 12 64897949 64897949 single base substitution C T downstream_gene_variant LIRI-JP 12 64899196 64899196 single base substitution C G downstream_gene_variant LUSC-KR 12 64845842 64845842 single base substitution A T 5_prime_UTR_variant LUSC-KR 12 64845842 64845842 single base substitution A T upstream_gene_variant LUSC-KR 12 64852815 64852815 single base substitution G T intron_variant LUSC-KR 12 64855334 64855334 single base substitution A T intron_variant LUSC-KR 12 64856202 64856202 single base substitution A G intron_variant LUSC-KR 12 64861791 64861791 single base substitution G T downstream_gene_variant LUSC-KR 12 64861791 64861791 single base substitution G T intron_variant LUSC-KR 12 64868820 64868820 single base substitution C G intron_variant LUSC-KR 12 64870039 64870039 single base substitution G T intron_variant LUSC-KR 12 64871260 64871260 single base substitution A T intron_variant LUSC-KR 12 64871301 64871301 single base substitution G A intron_variant LUSC-KR 12 64874800 64874800 single base substitution A G intron_variant LUSC-KR 12 64874800 64874800 single base substitution A G upstream_gene_variant LUSC-KR 12 64877952 64877952 single base substitution A G exon_variant LUSC-KR 12 64877952 64877952 single base substitution A G intron_variant LUSC-KR 12 64877952 64877952 single base substitution A G upstream_gene_variant LUSC-KR 12 64885898 64885898 single base substitution G C downstream_gene_variant LUSC-KR 12 64885898 64885898 single base substitution G C intron_variant LUSC-KR 12 64885898 64885898 single base substitution G C upstream_gene_variant LUSC-KR 12 64891289 64891289 single base substitution A G downstream_gene_variant LUSC-KR 12 64891289 64891289 single base substitution A G intron_variant LUSC-KR 12 64900051 64900051 single base substitution A G downstream_gene_variant LUSC-US 12 64854058 64854058 single base substitution G T missense_variant L59F 177G>T LUSC-US 12 64854058 64854058 single base substitution G T missense_variant L7F 21G>T LUSC-US 12 64879294 64879294 single base substitution G C downstream_gene_variant LUSC-US 12 64879294 64879294 single base substitution G C exon_variant LUSC-US 12 64879294 64879294 single base substitution G C splice_donor_variant LUSC-US 12 64891754 64891754 single base substitution G C downstream_gene_variant LUSC-US 12 64891754 64891754 single base substitution G C missense_variant K691N 2073G>C MALY-DE 12 64842346 64842346 insertion of <=200bp - T upstream_gene_variant MALY-DE 12 64844992 64844992 single base substitution A T upstream_gene_variant MALY-DE 12 64885338 64885338 single base substitution C T downstream_gene_variant MALY-DE 12 64885338 64885338 single base substitution C T intron_variant MALY-DE 12 64885338 64885338 single base substitution C T upstream_gene_variant MELA-AU 12 64841173 64841173 single base substitution G T upstream_gene_variant MELA-AU 12 64843002 64843002 single base substitution C T upstream_gene_variant MELA-AU 12 64844992 64844992 single base substitution A G upstream_gene_variant MELA-AU 12 64846065 64846065 single base substitution G A 5_prime_UTR_variant MELA-AU 12 64846065 64846065 single base substitution G A intron_variant MELA-AU 12 64846065 64846065 single base substitution G A upstream_gene_variant MELA-AU 12 64847264 64847264 single base substitution C T intron_variant MELA-AU 12 64848321 64848321 single base substitution C T intron_variant MELA-AU 12 64849094 64849094 single base substitution T C intron_variant MELA-AU 12 64849120 64849120 insertion of <=200bp - TA intron_variant MELA-AU 12 64849127 64849127 single base substitution A T intron_variant MELA-AU 12 64851152 64851152 single base substitution C T intron_variant MELA-AU 12 64851482 64851482 single base substitution C T intron_variant MELA-AU 12 64851830 64851830 single base substitution C T intron_variant MELA-AU 12 64851900 64851900 single base substitution C T intron_variant MELA-AU 12 64851902 64851902 single base substitution T C intron_variant MELA-AU 12 64852292 64852292 single base substitution C T intron_variant MELA-AU 12 64852394 64852394 single base substitution C T intron_variant MELA-AU 12 64853310 64853311 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 64853560 64853561 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 64853838 64853838 single base substitution A G intron_variant MELA-AU 12 64854441 64854441 single base substitution C T intron_variant MELA-AU 12 64854808 64854808 single base substitution C T intron_variant MELA-AU 12 64855165 64855165 single base substitution C T intron_variant MELA-AU 12 64856609 64856609 single base substitution G A intron_variant MELA-AU 12 64856839 64856839 single base substitution C T intron_variant MELA-AU 12 64856953 64856953 single base substitution C T intron_variant MELA-AU 12 64857114 64857114 single base substitution C T intron_variant MELA-AU 12 64857781 64857781 single base substitution C T intron_variant MELA-AU 12 64858358 64858358 single base substitution A T downstream_gene_variant MELA-AU 12 64858358 64858358 single base substitution A T intron_variant MELA-AU 12 64858697 64858697 single base substitution C T downstream_gene_variant MELA-AU 12 64858697 64858697 single base substitution C T intron_variant MELA-AU 12 64859544 64859544 single base substitution C T downstream_gene_variant MELA-AU 12 64859544 64859544 single base substitution C T intron_variant MELA-AU 12 64859945 64859945 single base substitution C T downstream_gene_variant MELA-AU 12 64859945 64859945 single base substitution C T intron_variant MELA-AU 12 64860427 64860427 single base substitution C T downstream_gene_variant MELA-AU 12 64860427 64860427 single base substitution C T intron_variant MELA-AU 12 64860487 64860487 single base substitution A G downstream_gene_variant MELA-AU 12 64860487 64860487 single base substitution A G intron_variant MELA-AU 12 64860558 64860558 single base substitution A T downstream_gene_variant MELA-AU 12 64860558 64860558 single base substitution A T intron_variant MELA-AU 12 64862040 64862040 single base substitution C T downstream_gene_variant MELA-AU 12 64862040 64862040 single base substitution C T intron_variant MELA-AU 12 64862747 64862747 single base substitution C T downstream_gene_variant MELA-AU 12 64862747 64862747 single base substitution C T intron_variant MELA-AU 12 64862802 64862802 single base substitution C T downstream_gene_variant MELA-AU 12 64862802 64862802 single base substitution C T intron_variant MELA-AU 12 64862803 64862803 single base substitution C T downstream_gene_variant MELA-AU 12 64862803 64862803 single base substitution C T intron_variant MELA-AU 12 64863312 64863312 single base substitution C T intron_variant MELA-AU 12 64863329 64863329 single base substitution G A intron_variant MELA-AU 12 64863453 64863453 single base substitution C T intron_variant MELA-AU 12 64863584 64863584 single base substitution C T intron_variant MELA-AU 12 64864500 64864500 single base substitution C T intron_variant MELA-AU 12 64864851 64864851 single base substitution C T intron_variant MELA-AU 12 64864988 64864988 single base substitution T G intron_variant MELA-AU 12 64865505 64865505 single base substitution C T intron_variant MELA-AU 12 64866133 64866133 single base substitution C T intron_variant MELA-AU 12 64866152 64866152 single base substitution C T intron_variant MELA-AU 12 64867206 64867206 insertion of <=200bp - TAAAA intron_variant MELA-AU 12 64868867 64868867 single base substitution C T intron_variant MELA-AU 12 64869077 64869077 single base substitution G A intron_variant MELA-AU 12 64869777 64869777 single base substitution C T intron_variant MELA-AU 12 64869968 64869968 single base substitution C T intron_variant MELA-AU 12 64870266 64870266 single base substitution C T intron_variant MELA-AU 12 64870594 64870594 single base substitution A G intron_variant MELA-AU 12 64870657 64870657 single base substitution C T intron_variant MELA-AU 12 64871355 64871355 single base substitution G A intron_variant MELA-AU 12 64871663 64871663 single base substitution T A intron_variant MELA-AU 12 64873374 64873374 single base substitution C T intron_variant MELA-AU 12 64873374 64873374 single base substitution C T upstream_gene_variant MELA-AU 12 64874034 64874034 single base substitution C A intron_variant MELA-AU 12 64874034 64874034 single base substitution C A upstream_gene_variant MELA-AU 12 64874513 64874513 single base substitution C T intron_variant MELA-AU 12 64874513 64874513 single base substitution C T upstream_gene_variant MELA-AU 12 64875891 64875891 single base substitution C T intron_variant MELA-AU 12 64875891 64875891 single base substitution C T upstream_gene_variant MELA-AU 12 64876326 64876326 single base substitution C T intron_variant MELA-AU 12 64876326 64876326 single base substitution C T upstream_gene_variant MELA-AU 12 64876810 64876810 single base substitution C T intron_variant MELA-AU 12 64876810 64876810 single base substitution C T upstream_gene_variant MELA-AU 12 64877208 64877208 single base substitution C T intron_variant MELA-AU 12 64877208 64877208 single base substitution C T upstream_gene_variant MELA-AU 12 64877756 64877756 single base substitution C T intron_variant MELA-AU 12 64877756 64877756 single base substitution C T upstream_gene_variant MELA-AU 12 64878505 64878505 single base substitution C T intron_variant MELA-AU 12 64879076 64879076 single base substitution A G intron_variant MELA-AU 12 64879296 64879296 single base substitution T A downstream_gene_variant MELA-AU 12 64879296 64879296 single base substitution T A exon_variant MELA-AU 12 64879296 64879296 single base substitution T A splice_region_variant MELA-AU 12 64880974 64880974 single base substitution T C downstream_gene_variant MELA-AU 12 64880974 64880974 single base substitution T C intron_variant MELA-AU 12 64882398 64882398 single base substitution G A downstream_gene_variant MELA-AU 12 64882398 64882398 single base substitution G A intron_variant MELA-AU 12 64882575 64882575 single base substitution C T downstream_gene_variant MELA-AU 12 64882575 64882575 single base substitution C T intron_variant MELA-AU 12 64883098 64883098 single base substitution G T downstream_gene_variant MELA-AU 12 64883098 64883098 single base substitution G T intron_variant MELA-AU 12 64883513 64883513 single base substitution T C downstream_gene_variant MELA-AU 12 64883513 64883513 single base substitution T C intron_variant MELA-AU 12 64884403 64884403 single base substitution T G downstream_gene_variant MELA-AU 12 64884403 64884403 single base substitution T G intron_variant MELA-AU 12 64884403 64884403 single base substitution T G upstream_gene_variant MELA-AU 12 64884950 64884950 single base substitution C T downstream_gene_variant MELA-AU 12 64884950 64884950 single base substitution C T intron_variant MELA-AU 12 64884950 64884950 single base substitution C T upstream_gene_variant MELA-AU 12 64885278 64885278 single base substitution C T downstream_gene_variant MELA-AU 12 64885278 64885278 single base substitution C T intron_variant MELA-AU 12 64885278 64885278 single base substitution C T upstream_gene_variant MELA-AU 12 64885351 64885351 single base substitution C G downstream_gene_variant MELA-AU 12 64885351 64885351 single base substitution C G intron_variant MELA-AU 12 64885351 64885351 single base substitution C G upstream_gene_variant MELA-AU 12 64887155 64887155 single base substitution C T downstream_gene_variant MELA-AU 12 64887155 64887155 single base substitution C T intron_variant MELA-AU 12 64887155 64887155 single base substitution C T upstream_gene_variant MELA-AU 12 64887290 64887290 single base substitution C T downstream_gene_variant MELA-AU 12 64887290 64887290 single base substitution C T intron_variant MELA-AU 12 64887290 64887290 single base substitution C T upstream_gene_variant MELA-AU 12 64888115 64888115 single base substitution A T intron_variant MELA-AU 12 64888115 64888115 single base substitution A T upstream_gene_variant MELA-AU 12 64888133 64888133 single base substitution C T intron_variant MELA-AU 12 64888133 64888133 single base substitution C T upstream_gene_variant MELA-AU 12 64888692 64888692 single base substitution C T intron_variant MELA-AU 12 64888692 64888692 single base substitution C T upstream_gene_variant MELA-AU 12 64890164 64890164 single base substitution G A downstream_gene_variant MELA-AU 12 64890164 64890164 single base substitution G A missense_variant E580K 1738G>A MELA-AU 12 64890164 64890164 single base substitution G A upstream_gene_variant MELA-AU 12 64890369 64890369 single base substitution G A downstream_gene_variant MELA-AU 12 64890369 64890369 single base substitution G A intron_variant MELA-AU 12 64890369 64890369 single base substitution G A upstream_gene_variant MELA-AU 12 64891907 64891907 single base substitution C T downstream_gene_variant MELA-AU 12 64891907 64891907 single base substitution C T intron_variant MELA-AU 12 64893113 64893113 single base substitution C T downstream_gene_variant MELA-AU 12 64893113 64893113 single base substitution C T intron_variant MELA-AU 12 64893120 64893120 single base substitution C G downstream_gene_variant MELA-AU 12 64893120 64893120 single base substitution C G intron_variant MELA-AU 12 64893184 64893185 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 64893184 64893185 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 64893706 64893706 single base substitution G A downstream_gene_variant MELA-AU 12 64893706 64893706 single base substitution G A intron_variant MELA-AU 12 64893711 64893711 single base substitution C T downstream_gene_variant MELA-AU 12 64893711 64893711 single base substitution C T intron_variant MELA-AU 12 64894215 64894215 single base substitution C T downstream_gene_variant MELA-AU 12 64894215 64894215 single base substitution C T intron_variant MELA-AU 12 64894762 64894762 single base substitution C T downstream_gene_variant MELA-AU 12 64894762 64894762 single base substitution C T intron_variant MELA-AU 12 64895651 64895651 single base substitution T A 3_prime_UTR_variant MELA-AU 12 64895651 64895651 single base substitution T A downstream_gene_variant MELA-AU 12 64896608 64896608 single base substitution C T downstream_gene_variant MELA-AU 12 64896611 64896611 single base substitution C T downstream_gene_variant MELA-AU 12 64896989 64896989 single base substitution T C downstream_gene_variant MELA-AU 12 64898153 64898153 single base substitution C T downstream_gene_variant MELA-AU 12 64898215 64898215 single base substitution C T downstream_gene_variant MELA-AU 12 64898519 64898519 single base substitution C T downstream_gene_variant MELA-AU 12 64899447 64899447 single base substitution C T downstream_gene_variant MELA-AU 12 64899786 64899786 single base substitution C T downstream_gene_variant MELA-AU 12 64899787 64899787 single base substitution C T downstream_gene_variant MELA-AU 12 64900216 64900216 single base substitution C T downstream_gene_variant MELA-AU 12 64900327 64900327 single base substitution C T downstream_gene_variant MELA-AU 12 64900401 64900401 single base substitution G A downstream_gene_variant ORCA-IN 12 64849719 64849719 single base substitution C T 5_prime_UTR_variant ORCA-IN 12 64849719 64849719 single base substitution C T synonymous_variant V23V 69C>T ORCA-IN 12 64860683 64860683 single base substitution G A downstream_gene_variant ORCA-IN 12 64860683 64860683 single base substitution G A missense_variant G121S 361G>A OV-AU 12 64846146 64846146 single base substitution G A 5_prime_UTR_variant OV-AU 12 64846146 64846146 single base substitution G A intron_variant OV-AU 12 64846146 64846146 single base substitution G A upstream_gene_variant OV-AU 12 64849011 64849011 single base substitution C G intron_variant OV-AU 12 64850710 64850710 single base substitution T C intron_variant OV-AU 12 64857655 64857655 single base substitution T G intron_variant OV-AU 12 64860764 64860764 single base substitution G C downstream_gene_variant OV-AU 12 64860764 64860764 single base substitution G C missense_variant D148H 442G>C OV-AU 12 64867018 64867018 single base substitution A G intron_variant OV-AU 12 64869920 64869920 single base substitution G A intron_variant OV-AU 12 64881531 64881531 single base substitution T C downstream_gene_variant OV-AU 12 64881531 64881531 single base substitution T C intron_variant OV-AU 12 64881667 64881667 single base substitution T A downstream_gene_variant OV-AU 12 64881667 64881667 single base substitution T A intron_variant OV-AU 12 64883587 64883587 single base substitution A C downstream_gene_variant OV-AU 12 64883587 64883587 single base substitution A C intron_variant OV-AU 12 64889220 64889220 single base substitution C T exon_variant OV-AU 12 64889220 64889220 single base substitution C T intron_variant OV-AU 12 64889220 64889220 single base substitution C T upstream_gene_variant OV-AU 12 64889710 64889710 single base substitution A T exon_variant OV-AU 12 64889710 64889710 single base substitution A T intron_variant OV-AU 12 64889710 64889710 single base substitution A T upstream_gene_variant OV-US 12 64889316 64889316 single base substitution A T exon_variant OV-US 12 64889316 64889316 single base substitution A T missense_variant R525S 1575A>T OV-US 12 64889316 64889316 single base substitution A T upstream_gene_variant PACA-AU 12 64843727 64843727 single base substitution C T upstream_gene_variant PACA-AU 12 64853422 64853422 single base substitution C T intron_variant PACA-AU 12 64858549 64858549 single base substitution A G downstream_gene_variant PACA-AU 12 64858549 64858549 single base substitution A G intron_variant PACA-AU 12 64865128 64865129 deletion of <=200bp TA - intron_variant PACA-AU 12 64868734 64868734 deletion of <=200bp A - intron_variant PACA-AU 12 64879538 64879538 single base substitution A C downstream_gene_variant PACA-AU 12 64879538 64879538 single base substitution A C exon_variant PACA-AU 12 64879538 64879538 single base substitution A C intron_variant PACA-AU 12 64889705 64889705 insertion of <=200bp - T exon_variant PACA-AU 12 64889705 64889705 insertion of <=200bp - T intron_variant PACA-AU 12 64889705 64889705 insertion of <=200bp - T upstream_gene_variant PACA-AU 12 64889712 64889712 single base substitution A T downstream_gene_variant PACA-AU 12 64889712 64889712 single base substitution A T intron_variant PACA-AU 12 64889712 64889712 single base substitution A T upstream_gene_variant PACA-AU 12 64891455 64891455 single base substitution T C downstream_gene_variant PACA-AU 12 64891455 64891455 single base substitution T C exon_variant PACA-AU 12 64891455 64891455 single base substitution T C missense_variant F663L 1987T>C PACA-AU 12 64893336 64893336 single base substitution G T downstream_gene_variant PACA-AU 12 64893336 64893336 single base substitution G T intron_variant PACA-AU 12 64894040 64894040 single base substitution C G downstream_gene_variant PACA-AU 12 64894040 64894040 single base substitution C G intron_variant PACA-AU 12 64898599 64898599 single base substitution G A downstream_gene_variant PACA-CA 12 64842148 64842148 single base substitution C G upstream_gene_variant PACA-CA 12 64842427 64842427 insertion of <=200bp - A upstream_gene_variant PACA-CA 12 64848929 64848929 single base substitution C T intron_variant PACA-CA 12 64854591 64854591 single base substitution C T intron_variant PACA-CA 12 64854892 64854892 single base substitution A T intron_variant PACA-CA 12 64855104 64855104 single base substitution G T intron_variant PACA-CA 12 64861961 64861961 single base substitution C G downstream_gene_variant PACA-CA 12 64861961 64861961 single base substitution C G intron_variant PACA-CA 12 64865697 64865697 single base substitution G A intron_variant PACA-CA 12 64867861 64867861 single base substitution G T intron_variant PACA-CA 12 64868502 64868502 insertion of <=200bp - A intron_variant PACA-CA 12 64876313 64876313 insertion of <=200bp - A intron_variant PACA-CA 12 64876313 64876313 insertion of <=200bp - A upstream_gene_variant PACA-CA 12 64876805 64876805 single base substitution C G intron_variant PACA-CA 12 64876805 64876805 single base substitution C G upstream_gene_variant PACA-CA 12 64879742 64879742 single base substitution G A downstream_gene_variant PACA-CA 12 64879742 64879742 single base substitution G A exon_variant PACA-CA 12 64879742 64879742 single base substitution G A missense_variant A429T 1285G>A PACA-CA 12 64880677 64880677 single base substitution G A downstream_gene_variant PACA-CA 12 64880677 64880677 single base substitution G A intron_variant PACA-CA 12 64881510 64881510 single base substitution T G downstream_gene_variant PACA-CA 12 64881510 64881510 single base substitution T G intron_variant PACA-CA 12 64888129 64888129 single base substitution C T intron_variant PACA-CA 12 64888129 64888129 single base substitution C T upstream_gene_variant PACA-CA 12 64892421 64892421 single base substitution C T downstream_gene_variant PACA-CA 12 64892421 64892421 single base substitution C T intron_variant PACA-CA 12 64899509 64899509 single base substitution T A downstream_gene_variant PAEN-AU 12 64847856 64847856 single base substitution C A intron_variant PAEN-AU 12 64852983 64852983 single base substitution G T intron_variant PAEN-AU 12 64852984 64852984 single base substitution C T intron_variant PAEN-AU 12 64865361 64865361 single base substitution G A intron_variant PAEN-AU 12 64877379 64877379 single base substitution A G intron_variant PAEN-AU 12 64877379 64877379 single base substitution A G upstream_gene_variant PAEN-AU 12 64880540 64880540 single base substitution G A downstream_gene_variant PAEN-AU 12 64880540 64880540 single base substitution G A intron_variant PAEN-AU 12 64886189 64886189 single base substitution C A downstream_gene_variant PAEN-AU 12 64886189 64886189 single base substitution C A intron_variant PAEN-AU 12 64886189 64886189 single base substitution C A upstream_gene_variant PAEN-AU 12 64888094 64888094 single base substitution G A intron_variant PAEN-AU 12 64888094 64888094 single base substitution G A upstream_gene_variant PAEN-AU 12 64892722 64892722 single base substitution T G downstream_gene_variant PAEN-AU 12 64892722 64892722 single base substitution T G intron_variant PAEN-IT 12 64855310 64855310 single base substitution T C intron_variant PAEN-IT 12 64860444 64860444 single base substitution G T downstream_gene_variant PAEN-IT 12 64860444 64860444 single base substitution G T intron_variant PAEN-IT 12 64861882 64861882 single base substitution C A downstream_gene_variant PAEN-IT 12 64861882 64861882 single base substitution C A intron_variant PBCA-DE 12 64842427 64842427 single base substitution T A upstream_gene_variant PBCA-DE 12 64842705 64842705 single base substitution G A upstream_gene_variant PBCA-DE 12 64845422 64845422 insertion of <=200bp - A upstream_gene_variant PBCA-DE 12 64852293 64852294 deletion of <=200bp AT - intron_variant PBCA-DE 12 64861940 64861940 single base substitution C G downstream_gene_variant PBCA-DE 12 64861940 64861940 single base substitution C G intron_variant PBCA-DE 12 64865128 64865129 deletion of <=200bp TA - intron_variant PBCA-DE 12 64869393 64869393 single base substitution G T intron_variant PBCA-DE 12 64871985 64871985 single base substitution C T intron_variant PBCA-DE 12 64877201 64877201 single base substitution G A intron_variant PBCA-DE 12 64877201 64877201 single base substitution G A upstream_gene_variant PBCA-DE 12 64877791 64877792 deletion of <=200bp AC - intron_variant PBCA-DE 12 64877791 64877792 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 12 64879639 64879639 single base substitution G T downstream_gene_variant PBCA-DE 12 64879639 64879639 single base substitution G T exon_variant PBCA-DE 12 64879639 64879639 single base substitution G T intron_variant PBCA-DE 12 64880597 64880597 single base substitution C G downstream_gene_variant PBCA-DE 12 64880597 64880597 single base substitution C G intron_variant PBCA-DE 12 64890235 64890235 single base substitution T A downstream_gene_variant PBCA-DE 12 64890235 64890235 single base substitution T A intron_variant PBCA-DE 12 64890235 64890235 single base substitution T A upstream_gene_variant PBCA-DE 12 64893102 64893102 single base substitution G A downstream_gene_variant PBCA-DE 12 64893102 64893102 single base substitution G A intron_variant PBCA-DE 12 64898583 64898583 single base substitution T A downstream_gene_variant PBCA-DE 12 64900667 64900667 single base substitution T A downstream_gene_variant PRAD-CA 12 64857649 64857649 single base substitution T G intron_variant PRAD-CA 12 64887943 64887943 single base substitution G C intron_variant PRAD-CA 12 64887943 64887943 single base substitution G C upstream_gene_variant PRAD-UK 12 64851499 64851499 single base substitution G A intron_variant PRAD-UK 12 64857893 64857893 single base substitution C T intron_variant PRAD-UK 12 64879714 64879714 single base substitution A G downstream_gene_variant PRAD-UK 12 64879714 64879714 single base substitution A G exon_variant PRAD-UK 12 64879714 64879714 single base substitution A G synonymous_variant T419T 1257A>G PRAD-UK 12 64880297 64880297 single base substitution C G downstream_gene_variant PRAD-UK 12 64880297 64880297 single base substitution C G intron_variant PRAD-UK 12 64898682 64898682 single base substitution A C downstream_gene_variant READ-US 12 64878186 64878186 single base substitution C T exon_variant READ-US 12 64878186 64878186 single base substitution C T synonymous_variant L366L 1096C>T READ-US 12 64878186 64878186 single base substitution C T upstream_gene_variant RECA-EU 12 64847883 64847883 single base substitution A G intron_variant RECA-EU 12 64861381 64861381 single base substitution T C downstream_gene_variant RECA-EU 12 64861381 64861381 single base substitution T C intron_variant RECA-EU 12 64861387 64861387 single base substitution A G downstream_gene_variant RECA-EU 12 64861387 64861387 single base substitution A G intron_variant RECA-EU 12 64873921 64873921 single base substitution A T intron_variant RECA-EU 12 64873921 64873921 single base substitution A T upstream_gene_variant RECA-EU 12 64874075 64874075 single base substitution T A intron_variant RECA-EU 12 64874075 64874075 single base substitution T A upstream_gene_variant RECA-EU 12 64888993 64888993 single base substitution T A intron_variant RECA-EU 12 64888993 64888993 single base substitution T A upstream_gene_variant RECA-EU 12 64894178 64894178 single base substitution A T downstream_gene_variant RECA-EU 12 64894178 64894178 single base substitution A T intron_variant SKCA-BR 12 64842769 64842769 single base substitution A G upstream_gene_variant SKCA-BR 12 64846811 64846811 single base substitution G A intron_variant SKCA-BR 12 64848752 64848752 single base substitution C T intron_variant SKCA-BR 12 64851110 64851110 single base substitution C T intron_variant SKCA-BR 12 64853092 64853092 single base substitution G A intron_variant SKCA-BR 12 64856605 64856605 single base substitution C T intron_variant SKCA-BR 12 64858907 64858907 insertion of <=200bp - GTC downstream_gene_variant SKCA-BR 12 64858907 64858907 insertion of <=200bp - GTC intron_variant SKCA-BR 12 64862173 64862173 single base substitution T C downstream_gene_variant SKCA-BR 12 64862173 64862173 single base substitution T C intron_variant SKCA-BR 12 64864126 64864126 single base substitution A T intron_variant SKCA-BR 12 64864371 64864371 single base substitution T G intron_variant SKCA-BR 12 64866053 64866053 single base substitution C T intron_variant SKCA-BR 12 64870202 64870202 single base substitution T G intron_variant SKCA-BR 12 64883515 64883515 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 12 64883515 64883515 insertion of <=200bp - AT intron_variant SKCA-BR 12 64884199 64884199 single base substitution C T downstream_gene_variant SKCA-BR 12 64884199 64884199 single base substitution C T intron_variant SKCA-BR 12 64884199 64884199 single base substitution C T upstream_gene_variant SKCA-BR 12 64885325 64885325 single base substitution C T downstream_gene_variant SKCA-BR 12 64885325 64885325 single base substitution C T intron_variant SKCA-BR 12 64885325 64885325 single base substitution C T upstream_gene_variant SKCA-BR 12 64888103 64888103 single base substitution G A intron_variant SKCA-BR 12 64888103 64888103 single base substitution G A upstream_gene_variant SKCA-BR 12 64892838 64892838 insertion of <=200bp - TTTC downstream_gene_variant SKCA-BR 12 64892838 64892838 insertion of <=200bp - TTTC intron_variant SKCA-BR 12 64896185 64896185 single base substitution C T downstream_gene_variant SKCA-BR 12 64899260 64899260 single base substitution C T downstream_gene_variant SKCA-BR 12 64899787 64899787 single base substitution C T downstream_gene_variant SKCM-US 12 64849723 64849723 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 12 64849723 64849723 single base substitution C T missense_variant R25C 73C>T SKCM-US 12 64854024 64854024 single base substitution C T 5_prime_UTR_variant SKCM-US 12 64854024 64854024 single base substitution C T missense_variant P48L 143C>T SKCM-US 12 64858153 64858153 single base substitution C T missense_variant P38S 112C>T SKCM-US 12 64858153 64858153 single base substitution C T missense_variant P90S 268C>T SKCM-US 12 64879238 64879238 single base substitution C T exon_variant SKCM-US 12 64879238 64879238 single base substitution C T missense_variant S398F 1193C>T STAD-US 12 64854020 64854020 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 12 64854020 64854020 single base substitution C T missense_variant R47C 139C>T STAD-US 12 64875701 64875701 deletion of <=200bp T - frameshift_variant F298 STAD-US 12 64875701 64875701 deletion of <=200bp T - upstream_gene_variant STAD-US 12 64878159 64878159 single base substitution C T exon_variant STAD-US 12 64878159 64878159 single base substitution C T stop_gained R357* 1069C>T STAD-US 12 64878159 64878159 single base substitution C T upstream_gene_variant STAD-US 12 64883863 64883863 single base substitution A G downstream_gene_variant STAD-US 12 64883863 64883863 single base substitution A G synonymous_variant L495L 1485A>G STAD-US 12 64891001 64891003 deletion of <=200bp GAA - downstream_gene_variant STAD-US 12 64891001 64891003 deletion of <=200bp GAA - exon_variant STAD-US 12 64891001 64891003 deletion of <=200bp GAA - inframe_deletion E641 STAD-US 12 64891510 64891510 single base substitution A G downstream_gene_variant STAD-US 12 64891510 64891510 single base substitution A G exon_variant STAD-US 12 64891510 64891510 single base substitution A G missense_variant N681S 2042A>G STAD-US 12 64891772 64891772 single base substitution G T downstream_gene_variant STAD-US 12 64891772 64891772 single base substitution G T missense_variant M697I 2091G>T STAD-US 12 64895142 64895142 single base substitution G A downstream_gene_variant STAD-US 12 64895142 64895142 single base substitution G A missense_variant R724H 2171G>A THCA-SA 12 64854109 64854109 single base substitution G T missense_variant E24D 72G>T THCA-SA 12 64854109 64854109 single base substitution G T missense_variant E76D 228G>T THCA-SA 12 64875787 64875787 single base substitution T A synonymous_variant I326I 978T>A THCA-SA 12 64875787 64875787 single base substitution T A upstream_gene_variant THCA-US 12 64891007 64891007 single base substitution G A downstream_gene_variant THCA-US 12 64891007 64891007 single base substitution G A exon_variant THCA-US 12 64891007 64891007 single base substitution G A missense_variant E643K 1927G>A UCEC-US 12 64849723 64849723 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 12 64849723 64849723 single base substitution C T missense_variant R25C 73C>T UCEC-US 12 64854074 64854074 single base substitution A G missense_variant K13E 37A>G UCEC-US 12 64854074 64854074 single base substitution A G missense_variant K65E 193A>G UCEC-US 12 64858221 64858221 single base substitution C A downstream_gene_variant UCEC-US 12 64858221 64858221 single base substitution C A missense_variant F112L 336C>A UCEC-US 12 64860795 64860795 single base substitution T G downstream_gene_variant UCEC-US 12 64860795 64860795 single base substitution T G missense_variant F158C 473T>G UCEC-US 12 64868037 64868037 single base substitution C T synonymous_variant L190L 568C>T UCEC-US 12 64875650 64875650 single base substitution C A missense_variant L281I 841C>A UCEC-US 12 64875650 64875650 single base substitution C A upstream_gene_variant UCEC-US 12 64882309 64882309 single base substitution G T downstream_gene_variant UCEC-US 12 64882309 64882309 single base substitution G T exon_variant UCEC-US 12 64882309 64882309 single base substitution G T missense_variant K461N 1383G>T UCEC-US 12 64889478 64889478 single base substitution G A splice_acceptor_variant UCEC-US 12 64889478 64889478 single base substitution G A upstream_gene_variant UCEC-US 12 64895146 64895146 single base substitution C T downstream_gene_variant UCEC-US 12 64895146 64895146 single base substitution C T synonymous_variant N725N 2175C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-06-0152-01 COSM1559402 c.325G>A p.E109K Substitution - Missense 12:64464430-64464430 + TCGA-06-0645-01 COSM1559402 c.325G>A p.E109K Substitution - Missense 12:64464430-64464430 + TCGA-08-0358-01 COSM1559402 c.325G>A p.E109K Substitution - Missense 12:64464430-64464430 + MedB-1 COSM5621971 c.1070G>A p.R357Q Substitution - Missense 12:64484380-64484380 + 8014396 COSM218425 c.1987T>C p.F663L Substitution - Missense 12:64497675-64497675 + ESO-0129 COSM1267491 c.812G>C p.R271P Substitution - Missense 12:64480122-64480122 + TCGA-D1-A103-01 COSM942520 c.2175C>T p.N725N Substitution - coding silent 12:64501366-64501366 + TCGA-08-0245-01 COSM1559402 c.325G>A p.E109K Substitution - Missense 12:64464430-64464430 + TCGA-CU-A3YL-01 COSM3792890 c.1357G>A p.D453N Substitution - Missense 12:64488503-64488503 + TCGA-Q1-A73O-01 COSM4835093 c.1738G>A p.E580K Substitution - Missense 12:64496384-64496384 + TCGA-EI-6507-01 COSM1562497 c.1096C>T p.L366L Substitution - coding silent 12:64484406-64484406 + TCGA-AZ-5407-01 COSM1363618 c.1797G>A p.T599T Substitution - coding silent 12:64496985-64496985 + TCGA-CD-A4MG-01 COSM1991201 c.1485A>G p.L495L Substitution - coding silent 12:64490083-64490083 + 2292384 COSM4610402 c.1718G>T p.R573L Substitution - Missense 12:64495773-64495773 + TCGA-EE-A182-06 COSM942504 c.73C>T p.R25C Substitution - Missense 12:64455943-64455943 + SNU-175 COSM1991160 c.27G>A p.W9* Substitution - Nonsense 12:64455897-64455897 + RK229_C01 COSM4944843 c.1189+10G>C p.? Unknown 12:64484509-64484509 + TCGA-08-0352-01 COSM1559402 c.325G>A p.E109K Substitution - Missense 12:64464430-64464430 + TCGA-06-0648-01 COSM1559402 c.325G>A p.E109K Substitution - Missense 12:64464430-64464430 + HCC109 COSM1606498 c.768A>G p.P256P Substitution - coding silent 12:64480078-64480078 + TCGA-06-0127-01 COSM1559402 c.325G>A p.E109K Substitution - Missense 12:64464430-64464430 + TCGA-HU-A4GN-01 COSM4044154 c.139C>T p.R47C Substitution - Missense 12:64460240-64460240 + TCGA-AN-A0FW-01 COSM431665 c.81A>T p.R27S Substitution - Missense 12:64455951-64455951 + TCGA-EM-A22P-01 COSM3368916 c.1927G>A p.E643K Substitution - Missense 12:64497227-64497227 + TCGA-EE-A20H-06 COSM3464226 c.268C>T p.P90S Substitution - Missense 12:64464373-64464373 + SNUH_G16_S1 COSM3676515 c.978T>C p.I326I Substitution - coding silent 12:64482007-64482007 + C058 COSM5525666 c.944C>T p.S315L Substitution - Missense 12:64481973-64481973 + RK034_C01 COSM1628777 c.1744A>T p.I582F Substitution - Missense 12:64496390-64496390 + TCGA-D5-6922-01 COSM1363611 c.1063G>A p.E355K Substitution - Missense 12:64484373-64484373 + TCGA-BS-A0UF-01 COSM942508 c.336C>A p.F112L Substitution - Missense 12:64464441-64464441 + H650 COSM1194481 c.1529G>T p.S510I Substitution - Missense 12:64495490-64495490 + 587220 COSM1228645 c.866A>G p.Q289R Substitution - Missense 12:64481895-64481895 + LUAD-RT-S01477 COSM377446 c.1228G>A p.G410R Substitution - Missense 12:64485493-64485493 + CRC-06T COSM5456353 c.439G>A p.E147K Substitution - Missense 12:64466981-64466981 + I2L-P7-Tumor-Organoid COSM5361967 c.598G>A p.A200T Substitution - Missense 12:64474287-64474287 + RK308_C01 COSM3739840 c.1502T>A p.I501K Substitution - Missense 12:64490100-64490100 + TCGA-BR-6452-01 COSM193838 c.1069C>T p.R357* Substitution - Nonsense 12:64484379-64484379 + CSB23 COSM5027636 c.374A>G p.H125R Substitution - Missense 12:64466916-64466916 + HCT-15 COSM1677151 c.617G>T p.S206I Substitution - Missense 12:64474306-64474306 + ACINAR01 COSM1735096 c.368T>C p.M123T Substitution - Missense 12:64466910-64466910 + TCGA-A6-5665-01 COSM1363616 c.1720A>G p.R574G Substitution - Missense 12:64495775-64495775 + TCGA-DK-A2I1-01 COSM1299768 c.683G>A p.R228H Substitution - Missense 12:64474372-64474372 + LUAD-RT-S01777 COSM381896 c.813G>T p.R271R Substitution - coding silent 12:64481842-64481842 + HCC60T COSM1606496 c.675A>G p.E225E Substitution - coding silent 12:64474364-64474364 + HCT15 COSM1677151 c.617G>T p.S206I Substitution - Missense 12:64474306-64474306 + TCGA-BR-4362-01 COSM193838 c.1069C>T p.R357* Substitution - Nonsense 12:64484379-64484379 + TCGA-02-0037-01 COSM1559400 c.235A>C p.T79P Substitution - Missense 12:64464340-64464340 + TCGA-B5-A11E-01 COSM942512 c.568C>T p.L190L Substitution - coding silent 12:64474257-64474257 + TCGA-G4-6311-01 COSM3688397 c.2158G>T p.D720Y Substitution - Missense 12:64501349-64501349 + TCGA-46-3769-01 COSM694806 c.177G>T p.L59F Substitution - Missense 12:64460278-64460278 + S02342 COSM5692494 c.1934C>G p.S645* Substitution - Nonsense 12:64497234-64497234 + PCSI_0086_Pa_P COSM3781048 c.13T>A p.S5T Substitution - Missense 12:64455883-64455883 + TCGA-B6-A0RH-01 COSM431667 c.951A>G p.Q317Q Substitution - coding silent 12:64481980-64481980 + SJHGG059_A COSM4969768 c.912T>C p.D304D Substitution - coding silent 12:64481941-64481941 + TCGA-GV-A40G-01 COSM1991182 c.923G>A p.R308Q Substitution - Missense 12:64481952-64481952 + RK034_C COSM1628777 c.1744A>T p.I582F Substitution - Missense 12:64496390-64496390 + TCGA-FW-A3R5-06 COSM3872262 c.143C>T p.P48L Substitution - Missense 12:64460244-64460244 + TCGA-AP-A059-01 COSM942510 c.473T>G p.F158C Substitution - Missense 12:64467015-64467015 + TCGA-02-0064-01 COSM1559400 c.235A>C p.T79P Substitution - Missense 12:64464340-64464340 + TCGA-AX-A060-01 COSM942506 c.193A>G p.K65E Substitution - Missense 12:64460294-64460294 + ccRCC-78 COSM1664492 c.1424T>A p.I475N Substitution - Missense 12:64488570-64488570 + TCGA-08-0380-01 COSM1559402 c.325G>A p.E109K Substitution - Missense 12:64464430-64464430 + S00501 COSM315814 c.1184delA p.I397fs*12 Deletion - Frameshift 12:64484494-64484494 + NB1816 COSM5703319 c.125A>G p.N42S Substitution - Missense 12:64460226-64460226 + AA1924 COSM1228647 c.1318C>T p.R440* Substitution - Nonsense 12:64485995-64485995 + CSCC-32-T COSM4459103 c.1111C>T p.P371S Substitution - Missense 12:64484421-64484421 + TCGA-AN-A0AM-01 COSM431669 c.1080C>G p.V360V Substitution - coding silent 12:64484390-64484390 + TCGA-BR-6452-01 COSM4044156 c.2042A>G p.N681S Substitution - Missense 12:64497730-64497730 + TCGA-BR-8078-01 COSM4044160 c.2171G>A p.R724H Substitution - Missense 12:64501362-64501362 + ACINAR17 COSM1735098 c.1809T>A p.D603E Substitution - Missense 12:64496997-64496997 + TCGA-AM-5820-01 COSM3753440 c.978T>A p.I326I Substitution - coding silent 12:64482007-64482007 + NB-1931 COSM1288368 c.1029C>A p.T343T Substitution - coding silent 12:64484339-64484339 + ESCC_154 COSM5645831 c.969G>A p.K323K Substitution - coding silent 12:64481998-64481998 + HCC83T COSM3704351 c.2017A>G p.M673V Substitution - Missense 12:64497705-64497705 + HCC109T COSM1606498 c.768A>G p.P256P Substitution - coding silent 12:64480078-64480078 + I2L-P31-Tumor-Organoid COSM3781048 c.13T>A p.S5T Substitution - Missense 12:64455883-64455883 + PD4100a COSM164822 c.39T>A p.D13E Substitution - Missense 12:64455909-64455909 + TCGA-AA-A010-01 COSM285605 c.1895C>T p.S632L Substitution - Missense 12:64497195-64497195 + 112190 COSM95304 c.2024C>T p.P675L Substitution - Missense 12:64497712-64497712 + Gp5D COSM1991209 c.1668A>G p.L556L Substitution - coding silent 12:64495723-64495723 + HCC60 COSM1606496 c.675A>G p.E225E Substitution - coding silent 12:64474364-64474364 + TCGA-08-0346-01 COSM1559402 c.325G>A p.E109K Substitution - Missense 12:64464430-64464430 + GHE0415 COSM5713593 c.1796C>T p.T599M Substitution - Missense 12:64496984-64496984 + 19M COSM5579696 c.2066G>A p.G689D Substitution - Missense 12:64497754-64497754 + 51T COSM3710961 c.69C>T p.V23V Substitution - coding silent 12:64455939-64455939 + TCGA-06-0130-01 COSM1559400 c.235A>C p.T79P Substitution - Missense 12:64464340-64464340 + AOCS-130-1-0 COSM4150304 c.442G>C p.D148H Substitution - Missense 12:64466984-64466984 + OSCC-GB_00510111 COSM3710961 c.69C>T p.V23V Substitution - coding silent 12:64455939-64455939 + BN50T COSM1606496 c.675A>G p.E225E Substitution - coding silent 12:64474364-64474364 + ICGC_0010 COSM218425 c.1987T>C p.F663L Substitution - Missense 12:64497675-64497675 + C709 COSM4443839 c.1096C>G p.L366V Substitution - Missense 12:64484406-64484406 + TCGA-AX-A0J0-01 COSM942516 c.1383G>T p.K461N Substitution - Missense 12:64488529-64488529 + S00501 COSM315814 c.1184delA p.I397fs*12 Deletion - Frameshift 12:64484494-64484494 + RK126_C01 COSM1628779 c.2182T>A p.C728S Substitution - Missense 12:64501373-64501373 + MO_1015 COSM5558138 c.1510A>G p.K504E Substitution - Missense 12:64490108-64490108 + TCGA-46-6026-01 COSM694798 c.2073G>C p.K691N Substitution - Missense 12:64497974-64497974 + TCGA-02-0114-01 COSM1363613 c.1603G>A p.A535T Substitution - Missense 12:64495564-64495564 + 169 COSM1991217 c.1921_1923delGAA p.E643delE Deletion - In frame 12:64497221-64497223 + TCGA-HF-7132-01 COSM4044158 c.2091G>T p.M697I Substitution - Missense 12:64497992-64497992 + TCGA-D1-A103-01 COSM942518 c.1644-1G>A p.? Unknown 12:64495698-64495698 + HCC83 COSM3704351 c.2017A>G p.M673V Substitution - Missense 12:64497705-64497705 + TCGA-FV-A2QR-01 COSM4939036 c.1648G>C p.E550Q Substitution - Missense 12:64495703-64495703 + 587376 COSM1228649 c.2170C>T p.R724C Substitution - Missense 12:64501361-64501361 + 19 COSM5747415 c.1990A>G p.T664A Substitution - Missense 12:64497678-64497678 + 587376 COSM1228647 c.1318C>T p.R440* Substitution - Nonsense 12:64485995-64485995 + Pat_41_B COSM5841712 c.247G>A p.V83I Substitution - Missense 12:64464352-64464352 + PTC_340 COSM5958150 c.228G>T p.E76D Substitution - Missense 12:64460329-64460329 + 2521252 COSM5889218 c.757G>A p.E253K Substitution - Missense 12:64480067-64480067 + LP6005409-DNA_C04 COSM5953608 c.1014G>A p.L338L Substitution - coding silent 12:64484324-64484324 + YULOCUS COSM5375790 c.1687T>C p.Y563H Substitution - Missense 12:64495742-64495742 + TCGA-EE-A2MS-06 COSM3464228 c.1193C>T p.S398F Substitution - Missense 12:64485458-64485458 + TCGA-02-0014-01 COSM1363610 c.946C>T p.L316L Substitution - coding silent 12:64481975-64481975 + BN50 COSM1606496 c.675A>G p.E225E Substitution - coding silent 12:64474364-64474364 + TCGA-12-0620-01 COSM1559402 c.325G>A p.E109K Substitution - Missense 12:64464430-64464430 + OSCC-GB_01210111 COSM5954823 c.361G>A p.G121S Substitution - Missense 12:64466903-64466903 + TCGA-G4-6309-01 COSM1363620 c.1970_1971delCT p.L658fs*23 Deletion - Frameshift 12:64497658-64497659 + TCGA-Q1-A73O-01 COSM4835579 c.19C>T p.H7Y Substitution - Missense 12:64455889-64455889 + TCGA-BS-A0UF-01 COSM942514 c.841C>A p.L281I Substitution - Missense 12:64481870-64481870 + ESOSCC152T COSM1171931 c.659C>A p.P220Q Substitution - Missense 12:64474348-64474348 + CHC912T COSM4806390 c.1984A>C p.M662L Substitution - Missense 12:64497672-64497672 + TCGA-02-0003-01 COSM1559400 c.235A>C p.T79P Substitution - Missense 12:64464340-64464340 + TCGA-AA-3715-01 COSM270302 c.1166C>T p.T389I Substitution - Missense 12:64484476-64484476 + TCGA-AA-A010-01 COSM285603 c.167T>G p.F56C Substitution - Missense 12:64460268-64460268 + HCC112T COSM5818693 c.908G>A p.S303N Substitution - Missense 12:64481937-64481937 + CSB15 COSM3688397 c.2158G>T p.D720Y Substitution - Missense 12:64501349-64501349 + TCGA-B5-A0JY-01 COSM942504 c.73C>T p.R25C Substitution - Missense 12:64455943-64455943 + Pat_41_B COSM5841714 c.862G>A p.D288N Substitution - Missense 12:64481891-64481891 + TCGA-B4-5832-01 COSM1492992 c.1684A>C p.I562L Substitution - Missense 12:64495739-64495739 + DLD1 COSM4622713 c.1168A>G p.I390V Substitution - Missense 12:64484478-64484478 + CHC912T COSM4806390 c.1984A>C p.M662L Substitution - Missense 12:64497672-64497672 + TCGA-33-4532-01 COSM694800 c.1248+1G>C p.? Unknown 12:64485514-64485514 + TCGA-DB-5275-01 COSM3968384 c.2095G>A p.G699R Substitution - Missense 12:64497996-64497996 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.505874 12q14.1 604834

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.I397Ffs*12 c.1189delA 12 64878274 SCLC A G Missense p.H125R c.374A>G 12 64860696 BRCA A G Missense p.K65E c.193A>G 12 64854074 UCEC A G Synonymous p.Q317Q c.951A>G 12 64875760 BRCA A T Missense p.I582F c.1744A>T 12 64890170 HC A T Missense p.R27S c.81A>T 12 64849731 BRCA A T Missense p.R525S c.1575A>T 12 64889316 OV C A Synonymous p.T343T c.1029C>A 12 64878119 NB C G Synonymous p.V360V c.1080C>G 12 64878170 BRCA C T IntronicSNV . c.1249-134C>T 12 64879572 CM C T Missense p.P90S c.268C>T 12 64858153 CM C T Missense p.R25C c.73C>T 12 64849723 CM C T Missense p.S398F c.1193C>T 12 64879238 CM C T Missense p.T278I c.833C>T 12 64875642 CM C T Synonymous p.L62L c.186C>T 12 64854067 CM G A Missense p.E643K c.1927G>A 12 64891007 THCA G A Missense p.G699R c.2095G>A 12 64891776 LGG G A Missense p.R228H c.683G>A 12 64868152 BLCA G C Missense p.E395Q c.1183G>C 12 64878273 LUAD G C Missense p.G420A c.1259G>C 12 64879716 CM G C Missense p.K323N c.969G>C 12 64875778 LUAD G C Missense p.K691N c.2073G>C 12 64891754 LUSC G C Missense p.Q660H c.1980G>C 12 64891448 HNSC G C SpliceDonorSNV . c.1248+1G>C 12 64879294 LUSC G T Missense p.D720Y c.2158G>T 12 64895129 BRCA G T Missense p.G410W c.1228G>T 12 64879273 CLL G T Missense p.L59F c.177G>T 12 64854058 LUSC T A Missense p.C728S c.2182T>A 12 64895153 HC T A Missense p.D13E c.39T>A 12 64849689 BRCA T C Missense p.F663L c.1987T>C 12 64891455 PAAD T G IntronicSNV . c.1249-79T>G 12 64879627 HC