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 13 70281793 70281794 + Missense_Mutation DNP CA CA AG TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr13:70281793_70281794CA>AG c.2150_2151TG>CT c.(2149-2151)aTG>aCT p.M717T ACC 13 70413106 70413106 + Splice_Site SNP A A T TCGA-OR-A5JB-01A-11D-A29I-10 TCGA-OR-A5JB-10A-01D-A29L-10 g.chr13:70413106A>T c.e6+1 ACC 13 70681347 70681347 + Frame_Shift_Del DEL C C - TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr13:70681347delC c.485delG c.(484-486)ggafs p.G162fs ACC 13 70681348 70681349 + Frame_Shift_Del DEL CT CT - TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr13:70681348_70681349delCT c.483_484delAG c.(481-486)gaaggafs p.G162fs ACC 13 70681349 70681349 + Missense_Mutation SNP T T A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr13:70681349T>A c.483A>T c.(481-483)gaA>gaT p.E161D BLCA 13 70281831 70281831 + Missense_Mutation SNP C C T TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr13:70281831C>T c.2113G>A c.(2113-2115)Gtt>Att p.V705I BLCA 13 70293705 70293705 + Nonsense_Mutation SNP G G T TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr13:70293705G>T c.1811C>A c.(1810-1812)tCa>tAa p.S604* BLCA 13 70314531 70314531 + Silent SNP A A G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 g.chr13:70314531A>G c.1797T>C c.(1795-1797)aaT>aaC p.N599N BLCA 13 70314576 70314576 + Silent SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 g.chr13:70314576G>A c.1752C>T c.(1750-1752)gcC>gcT p.A584A BLCA 13 70370906 70370906 + Missense_Mutation SNP C C A TCGA-UY-A9PD-01A-11D-A38G-08 TCGA-UY-A9PD-10A-01D-A38J-08 g.chr13:70370906C>A c.1603G>T c.(1603-1605)Gtc>Ttc p.V535F BLCA 13 70370981 70370981 + Missense_Mutation SNP C C G TCGA-ZF-AA4U-01A-11D-A38G-08 TCGA-ZF-AA4U-10A-01D-A38J-08 g.chr13:70370981C>G c.1528G>C c.(1528-1530)Gta>Cta p.V510L BLCA 13 70371010 70371010 + Missense_Mutation SNP C C A TCGA-XF-A9T4-01A-11D-A391-08 TCGA-XF-A9T4-10A-01D-A394-08 g.chr13:70371010C>A c.1499G>T c.(1498-1500)gGt>gTt p.G500V BLCA 13 70413259 70413259 + Silent SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr13:70413259C>T c.1263G>A c.(1261-1263)aaG>aaA p.K421K BLCA 13 70456512 70456512 + Missense_Mutation SNP T T C TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr13:70456512T>C c.1130A>G c.(1129-1131)cAt>cGt p.H377R BLCA 13 70456528 70456528 + Missense_Mutation SNP C C T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 g.chr13:70456528C>T c.1114G>A c.(1114-1116)Gaa>Aaa p.E372K BLCA 13 70456576 70456576 + Nonsense_Mutation SNP C C A TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr13:70456576C>A c.1066G>T c.(1066-1068)Gag>Tag p.E356* BLCA 13 70535552 70535552 + Missense_Mutation SNP G G T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr13:70535552G>T c.705C>A c.(703-705)gaC>gaA p.D235E BLCA 13 70549846 70549846 + Missense_Mutation SNP C C T TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 g.chr13:70549846C>T c.586G>A c.(586-588)Gag>Aag p.E196K BLCA 13 70549858 70549858 + Missense_Mutation SNP C C A TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr13:70549858C>A c.574G>T c.(574-576)Gtt>Ttt p.V192F BLCA 13 70549864 70549864 + Missense_Mutation SNP G G C TCGA-5N-A9KI-01A-31D-A42E-08 TCGA-5N-A9KI-10A-01D-A42H-08 g.chr13:70549864G>C c.568C>G c.(568-570)Caa>Gaa p.Q190E BLCA 13 70681399 70681399 + Silent SNP G G A TCGA-DK-A2I2-01A-11D-A17V-08 TCGA-DK-A2I2-10A-01D-A17V-08 g.chr13:70681399G>A c.433C>T c.(433-435)Ctg>Ttg p.L145L BLCA 13 70681415 70681415 + Silent SNP G G A TCGA-DK-AA6M-01A-11D-A391-08 TCGA-DK-AA6M-10A-01D-A394-08 g.chr13:70681415G>A c.417C>T c.(415-417)caC>caT p.H139H BLCA 13 70681441 70681441 + Missense_Mutation SNP G G T TCGA-FD-A5BV-01A-11D-A26M-08 TCGA-FD-A5BV-10A-01D-A26K-08 g.chr13:70681441G>T c.391C>A c.(391-393)Cca>Aca p.P131T BLCA 13 70681477 70681477 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr13:70681477G>A c.355C>T c.(355-357)Ctc>Ttc p.L119F BLCA 13 70681661 70681661 + Silent SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 g.chr13:70681661G>C c.171C>G c.(169-171)ctC>ctG p.L57L BLCA 13 70681804 70681804 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr13:70681804C>T c.28G>A c.(28-30)Gat>Aat p.D10N BRCA 13 70281842 70281842 + Missense_Mutation SNP C C G TCGA-A7-A5ZV-01A-11D-A28B-09 TCGA-A7-A5ZV-10A-01D-A28E-09 g.chr13:70281842C>G c.2102G>C c.(2101-2103)aGa>aCa p.R701T BRCA 13 70281926 70281927 + Frame_Shift_Ins INS - - C TCGA-AR-A0TY-01A-12W-A12T-09 TCGA-AR-A0TY-10A-01D-A110-09 g.chr13:70281926_70281927insC c.2017_2018insG c.(2017-2019)tatfs p.Y673fs BRCA 13 70281929 70281929 + Splice_Site SNP C C T TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-10A-01D-A135-09 g.chr13:70281929C>T c.e10-1 BRCA 13 70314611 70314611 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr13:70314611A>C c.1717T>G c.(1717-1719)Tgg>Ggg p.W573G BRCA 13 70456546 70456546 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr13:70456546C>T c.1096G>A c.(1096-1098)Gat>Aat p.D366N BRCA 13 70456605 70456605 + Missense_Mutation SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 g.chr13:70456605C>T c.1037G>A c.(1036-1038)aGa>aAa p.R346K BRCA 13 70514225 70514225 + Missense_Mutation SNP C C T TCGA-A7-A0D9-01A-31W-A071-09 TCGA-A7-A0D9-11A-53W-A100-09 g.chr13:70514225C>T c.961G>A c.(961-963)Gca>Aca p.A321T BRCA 13 70535549 70535549 + Silent SNP A A G TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 g.chr13:70535549A>G c.708T>C c.(706-708)taT>taC p.Y236Y BRCA 13 70549770 70549770 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr13:70549770C>T c.662G>A c.(661-663)cGa>cAa p.R221Q BRCA 13 70681654 70681654 + Missense_Mutation SNP G G C TCGA-A8-A084-01A-21W-A019-09 TCGA-A8-A084-10A-01W-A021-09 g.chr13:70681654G>C c.178C>G c.(178-180)Caa>Gaa p.Q60E CESC 13 70281894 70281894 + Missense_Mutation SNP C C A TCGA-JW-A69B-01A-11D-A32I-09 TCGA-JW-A69B-10A-01D-A32I-09 g.chr13:70281894C>A c.2050G>T c.(2050-2052)Gct>Tct p.A684S CESC 13 70371050 70371050 + Missense_Mutation SNP T T A TCGA-C5-A1MI-01A-11D-A14W-08 TCGA-C5-A1MI-10A-01D-A14W-08 g.chr13:70371050T>A c.1459A>T c.(1459-1461)Atc>Ttc p.I487F CESC 13 70514243 70514243 + Missense_Mutation SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr13:70514243A>C c.943T>G c.(943-945)Tta>Gta p.L315V CESC 13 70535470 70535470 + Missense_Mutation SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr13:70535470G>A c.787C>T c.(787-789)Ctc>Ttc p.L263F CESC 13 70681587 70681587 + Missense_Mutation SNP G G A TCGA-C5-A1M9-01A-11D-A13W-08 TCGA-C5-A1M9-10A-01D-A13W-08 g.chr13:70681587G>A c.245C>T c.(244-246)cCg>cTg p.P82L CESC 13 70681766 70681766 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr13:70681766G>A c.66C>T c.(64-66)ttC>ttT p.F22F CESC 13 70681805 70681805 + Silent SNP G G A TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr13:70681805G>A c.27C>T c.(25-27)ttC>ttT p.F9F CHOL 13 70456537 70456537 + Missense_Mutation SNP C C A TCGA-W5-AA31-01A-11D-A417-09 TCGA-W5-AA31-10A-01D-A41A-09 g.chr13:70456537C>A c.1105G>T c.(1105-1107)Gtt>Ttt p.V369F COAD 13 70281809 70281809 + Missense_Mutation SNP G G A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr13:70281809G>A c.2135C>T c.(2134-2136)aCa>aTa p.T712I COAD 13 70293604 70293604 + Missense_Mutation SNP C C A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr13:70293604C>A c.1912G>T c.(1912-1914)Ggg>Tgg p.G638W COAD 13 70293683 70293683 + Missense_Mutation SNP A A T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:70293683A>T c.1833T>A c.(1831-1833)agT>agA p.S611R COAD 13 70314625 70314625 + Missense_Mutation SNP T T C TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr13:70314625T>C c.1703A>G c.(1702-1704)aAt>aGt p.N568S COAD 13 70314648 70314648 + Silent SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr13:70314648G>A c.1680C>T c.(1678-1680)ggC>ggT p.G560G COAD 13 70371056 70371056 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:70371056G>A c.1453C>T c.(1453-1455)Ctg>Ttg p.L485L COAD 13 70371075 70371075 + Silent SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr13:70371075T>C c.1434A>G c.(1432-1434)aaA>aaG p.K478K COAD 13 70413148 70413148 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr13:70413148G>A c.1374C>T c.(1372-1374)gtC>gtT p.V458V COAD 13 70456474 70456474 + Silent SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr13:70456474T>G c.1168A>C c.(1168-1170)Aga>Cga p.R390R COAD 13 70456485 70456485 + Missense_Mutation SNP T T C TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr13:70456485T>C c.1157A>G c.(1156-1158)gAc>gGc p.D386G COAD 13 70456525 70456525 + Nonsense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:70456525C>A c.1117G>T c.(1117-1119)Gaa>Taa p.E373* COAD 13 70514322 70514322 + Silent SNP T T C TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr13:70514322T>C c.864A>G c.(862-864)gcA>gcG p.A288A COAD 13 70535456 70535456 + Silent SNP G G C TCGA-AA-A01T-01A-21W-A096-10 TCGA-AA-A01T-11A-11W-A096-10 g.chr13:70535456G>C c.801C>G c.(799-801)gtC>gtG p.V267V COAD 13 70535568 70535568 + Missense_Mutation SNP A A G TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr13:70535568A>G c.689T>C c.(688-690)cTg>cCg p.L230P COAD 13 70549857 70549857 + Missense_Mutation SNP A A G TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr13:70549857A>G c.575T>C c.(574-576)gTt>gCt p.V192A COAD 13 70681348 70681348 + Missense_Mutation SNP C C T TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr13:70681348C>T c.484G>A c.(484-486)Gga>Aga p.G162R COAD 13 70681409 70681409 + Frame_Shift_Del DEL T T - TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr13:70681409delT c.423delA c.(421-423)aaafs p.K141fs COAD 13 70681774 70681774 + Nonsense_Mutation SNP T T A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr13:70681774T>A c.58A>T c.(58-60)Aaa>Taa p.K20* COAD 13 70681804 70681804 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:70681804C>T c.28G>A c.(28-30)Gat>Aat p.D10N COAD 13 70681805 70681805 + Silent SNP G G A TCGA-D5-6926-01A-11D-1924-10 TCGA-D5-6926-10A-01D-1924-10 g.chr13:70681805G>A c.27C>T c.(25-27)ttC>ttT p.F9F COADREAD 13 70281809 70281809 + Missense_Mutation SNP G G A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr13:70281809G>A c.2135C>T c.(2134-2136)aCa>aTa p.T712I COADREAD 13 70293604 70293604 + Missense_Mutation SNP C C A TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr13:70293604C>A c.1912G>T c.(1912-1914)Ggg>Tgg p.G638W COADREAD 13 70293683 70293683 + Missense_Mutation SNP A A T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:70293683A>T c.1833T>A c.(1831-1833)agT>agA p.S611R COADREAD 13 70314625 70314625 + Missense_Mutation SNP T T C TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr13:70314625T>C c.1703A>G c.(1702-1704)aAt>aGt p.N568S COADREAD 13 70314648 70314648 + Silent SNP G G A TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr13:70314648G>A c.1680C>T c.(1678-1680)ggC>ggT p.G560G COADREAD 13 70371056 70371056 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:70371056G>A c.1453C>T c.(1453-1455)Ctg>Ttg p.L485L COADREAD 13 70371075 70371075 + Silent SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr13:70371075T>C c.1434A>G c.(1432-1434)aaA>aaG p.K478K COADREAD 13 70413148 70413148 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr13:70413148G>A c.1374C>T c.(1372-1374)gtC>gtT p.V458V COADREAD 13 70456474 70456474 + Silent SNP T T G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr13:70456474T>G c.1168A>C c.(1168-1170)Aga>Cga p.R390R COADREAD 13 70456485 70456485 + Missense_Mutation SNP T T C TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr13:70456485T>C c.1157A>G c.(1156-1158)gAc>gGc p.D386G COADREAD 13 70456525 70456525 + Nonsense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:70456525C>A c.1117G>T c.(1117-1119)Gaa>Taa p.E373* COADREAD 13 70514322 70514322 + Silent SNP T T C TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr13:70514322T>C c.864A>G c.(862-864)gcA>gcG p.A288A COADREAD 13 70535456 70535456 + Silent SNP G G C TCGA-AA-A01T-01A-21W-A096-10 TCGA-AA-A01T-11A-11W-A096-10 g.chr13:70535456G>C c.801C>G c.(799-801)gtC>gtG p.V267V COADREAD 13 70535466 70535466 + Missense_Mutation SNP C C A TCGA-AG-4015-01A-01W-1073-09 TCGA-AG-4015-10A-01W-1073-09 g.chr13:70535466C>A c.791G>T c.(790-792)tGg>tTg p.W264L COADREAD 13 70535568 70535568 + Missense_Mutation SNP A A G TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr13:70535568A>G c.689T>C c.(688-690)cTg>cCg p.L230P COADREAD 13 70549857 70549857 + Missense_Mutation SNP A A G TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr13:70549857A>G c.575T>C c.(574-576)gTt>gCt p.V192A COADREAD 13 70681348 70681348 + Missense_Mutation SNP C C T TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr13:70681348C>T c.484G>A c.(484-486)Gga>Aga p.G162R COADREAD 13 70681409 70681409 + Frame_Shift_Del DEL T T - TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr13:70681409delT c.423delA c.(421-423)aaafs p.K141fs COADREAD 13 70681774 70681774 + Nonsense_Mutation SNP T T A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr13:70681774T>A c.58A>T c.(58-60)Aaa>Taa p.K20* COADREAD 13 70681804 70681804 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr13:70681804C>T c.28G>A c.(28-30)Gat>Aat p.D10N COADREAD 13 70681805 70681805 + Silent SNP G G A TCGA-D5-6926-01A-11D-1924-10 TCGA-D5-6926-10A-01D-1924-10 g.chr13:70681805G>A c.27C>T c.(25-27)ttC>ttT p.F9F DLBC 13 70293616 70293616 + Missense_Mutation SNP A A T TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr13:70293616A>T c.1900T>A c.(1900-1902)Tgt>Agt p.C634S DLBC 13 70370951 70370951 + Silent SNP A A G TCGA-GS-A9TT-01A-11D-A382-10 TCGA-GS-A9TT-10A-01D-A385-10 g.chr13:70370951A>G c.1558T>C c.(1558-1560)Ttg>Ctg p.L520L DLBC 13 70681527 70681527 + Missense_Mutation SNP C C G TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr13:70681527C>G c.305G>C c.(304-306)aGg>aCg p.R102T ESCA 13 70456449 70456449 + Missense_Mutation SNP A A T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 g.chr13:70456449A>T c.1193T>A c.(1192-1194)cTt>cAt p.L398H ESCA 13 70514283 70514283 + Nonsense_Mutation SNP G G T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 g.chr13:70514283G>T c.903C>A c.(901-903)tgC>tgA p.C301* ESCA 13 70514337 70514337 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 g.chr13:70514337C>T c.849G>A c.(847-849)gaG>gaA p.E283E ESCA 13 70681620 70681620 + Missense_Mutation SNP T T A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 g.chr13:70681620T>A c.212A>T c.(211-213)aAg>aTg p.K71M ESCA 13 70681794 70681794 + Missense_Mutation SNP T T A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 g.chr13:70681794T>A c.38A>T c.(37-39)cAc>cTc p.H13L GBM 13 70314591 70314591 + Silent SNP T T C TCGA-32-2615-01A-01D-1495-08 TCGA-32-2615-10A-01D-1495-08 g.chr13:70314591T>C c.1737A>G c.(1735-1737)caA>caG p.Q579Q GBM 13 70535514 70535514 + Missense_Mutation SNP G G A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 g.chr13:70535514G>A c.743C>T c.(742-744)gCc>gTc p.A248V GBM 13 70681808 70681808 + Missense_Mutation SNP G G T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 g.chr13:70681808G>T c.24C>A c.(22-24)gaC>gaA p.D8E GBMLGG 13 70293517 70293517 + Missense_Mutation SNP G G T TCGA-QH-A6X3-01A-21D-A32B-08 TCGA-QH-A6X3-10B-01D-A329-08 g.chr13:70293517G>T c.1999C>A c.(1999-2001)Ctg>Atg p.L667M GBMLGG 13 70314591 70314591 + Silent SNP T T C TCGA-32-2615-01A-01D-1495-08 TCGA-32-2615-10A-01D-1495-08 g.chr13:70314591T>C c.1737A>G c.(1735-1737)caA>caG p.Q579Q GBMLGG 13 70314679 70314679 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:70314679A>G c.1649T>C c.(1648-1650)gTa>gCa p.V550A GBMLGG 13 70535514 70535514 + Missense_Mutation SNP G G A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 g.chr13:70535514G>A c.743C>T c.(742-744)gCc>gTc p.A248V GBMLGG 13 70681612 70681612 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:70681612A>G c.220T>C c.(220-222)Tcc>Ccc p.S74P GBMLGG 13 70681808 70681808 + Missense_Mutation SNP G G T TCGA-12-3649-01A-01D-1495-08 TCGA-12-3649-10A-01D-1495-08 g.chr13:70681808G>T c.24C>A c.(22-24)gaC>gaA p.D8E HNSC 13 70275855 70275855 + Silent SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 g.chr13:70275855C>T c.2226G>A c.(2224-2226)gtG>gtA p.V742V HNSC 13 70281880 70281880 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 g.chr13:70281880C>A c.2064G>T c.(2062-2064)atG>atT p.M688I HNSC 13 70281924 70281924 + Missense_Mutation SNP C C T TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chr13:70281924C>T c.2020G>A c.(2020-2022)Gat>Aat p.D674N HNSC 13 70293535 70293535 + Missense_Mutation SNP T T A TCGA-CQ-7072-01A-21D-A30E-08 TCGA-CQ-7072-10A-01D-A30H-08 g.chr13:70293535T>A c.1981A>T c.(1981-1983)Aat>Tat p.N661Y HNSC 13 70314562 70314562 + Missense_Mutation SNP G G T TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 g.chr13:70314562G>T c.1766C>A c.(1765-1767)gCt>gAt p.A589D HNSC 13 70370888 70370888 + Missense_Mutation SNP T T C TCGA-CR-7390-01A-11D-2012-08 TCGA-CR-7390-10A-01D-2013-08 g.chr13:70370888T>C c.1621A>G c.(1621-1623)Aca>Gca p.T541A HNSC 13 70413204 70413204 + Missense_Mutation SNP G G T TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 g.chr13:70413204G>T c.1318C>A c.(1318-1320)Cca>Aca p.P440T HNSC 13 70413285 70413285 + Missense_Mutation SNP C C T TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 g.chr13:70413285C>T c.1237G>A c.(1237-1239)Gac>Aac p.D413N HNSC 13 70456497 70456497 + Missense_Mutation SNP C C A TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr13:70456497C>A c.1145G>T c.(1144-1146)tGg>tTg p.W382L HNSC 13 70456501 70456501 + Missense_Mutation SNP T T A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 g.chr13:70456501T>A c.1141A>T c.(1141-1143)Atg>Ttg p.M381L HNSC 13 70456505 70456505 + Missense_Mutation SNP C C A TCGA-CN-6013-01A-11D-1683-08 TCGA-CN-6013-10A-01D-1683-08 g.chr13:70456505C>A c.1137G>T c.(1135-1137)ttG>ttT p.L379F HNSC 13 70456525 70456525 + Nonsense_Mutation SNP C C A TCGA-CQ-6223-01A-11D-1912-08 TCGA-CQ-6223-10A-01D-1912-08 g.chr13:70456525C>A c.1117G>T c.(1117-1119)Gaa>Taa p.E373* HNSC 13 70514196 70514196 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 g.chr13:70514196C>T c.990G>A c.(988-990)atG>atA p.M330I HNSC 13 70514279 70514279 + Missense_Mutation SNP G G T TCGA-BA-A6DE-01A-22D-A31L-08 TCGA-BA-A6DE-10A-01D-A31J-08 g.chr13:70514279G>T c.907C>A c.(907-909)Cac>Aac p.H303N HNSC 13 70535472 70535472 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 g.chr13:70535472G>A c.785C>T c.(784-786)gCt>gTt p.A262V HNSC 13 70535475 70535475 + Missense_Mutation SNP T T A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 g.chr13:70535475T>A c.782A>T c.(781-783)aAt>aTt p.N261I HNSC 13 70549771 70549771 + Missense_Mutation SNP G G C TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 g.chr13:70549771G>C c.661C>G c.(661-663)Cga>Gga p.R221G HNSC 13 70549780 70549780 + Missense_Mutation SNP C C A TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr13:70549780C>A c.652G>T c.(652-654)Gtt>Ttt p.V218F HNSC 13 70549883 70549883 + Silent SNP A A G TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 g.chr13:70549883A>G c.549T>C c.(547-549)agT>agC p.S183S HNSC 13 70549904 70549904 + Silent SNP A A C TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 g.chr13:70549904A>C c.528T>G c.(526-528)ccT>ccG p.P176P HNSC 13 70549918 70549918 + Missense_Mutation SNP G G C TCGA-CN-A6V3-01A-12D-A34J-08 TCGA-CN-A6V3-10A-01D-A34M-08 g.chr13:70549918G>C c.514C>G c.(514-516)Cat>Gat p.H172D HNSC 13 70549922 70549922 + Silent SNP G G A TCGA-BA-7269-01A-11D-2012-08 TCGA-BA-7269-10A-01D-2013-08 g.chr13:70549922G>A c.510C>T c.(508-510)acC>acT p.T170T HNSC 13 70681435 70681435 + Missense_Mutation SNP T T C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 g.chr13:70681435T>C c.397A>G c.(397-399)Atg>Gtg p.M133V HNSC 13 70681494 70681494 + Missense_Mutation SNP T T A TCGA-HD-A6I0-01A-11D-A31L-08 TCGA-HD-A6I0-10A-01D-A31J-08 g.chr13:70681494T>A c.338A>T c.(337-339)cAg>cTg p.Q113L HNSC 13 70681720 70681720 + Frame_Shift_Del DEL G G - TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 g.chr13:70681720delG c.112delC c.(112-114)ctgfs p.L38fs KIPAN 13 70281831 70281831 + Missense_Mutation SNP C C T TCGA-CJ-6030-01A-11D-1669-08 TCGA-CJ-6030-11A-01D-1669-08 g.chr13:70281831C>T c.2113G>A c.(2113-2115)Gtt>Att p.V705I KIPAN 13 70371015 70371015 + Missense_Mutation SNP C C G TCGA-B9-A8YI-01A-21D-A36X-10 TCGA-B9-A8YI-10A-01D-A370-10 g.chr13:70371015C>G c.1494G>C c.(1492-1494)caG>caC p.Q498H KIPAN 13 70549759 70549759 + Missense_Mutation SNP C C G TCGA-DZ-6135-01A-11D-1961-08 TCGA-DZ-6135-10A-01D-1962-08 g.chr13:70549759C>G c.673G>C c.(673-675)Gca>Cca p.A225P KIPAN 13 70681442 70681442 + Silent SNP C C A TCGA-B0-4842-01A-02D-1421-08 TCGA-B0-4842-11A-01D-1421-08 g.chr13:70681442C>A c.390G>T c.(388-390)gtG>gtT p.V130V KIRC 13 70281831 70281831 + Missense_Mutation SNP C C T TCGA-CJ-6030-01A-11D-1669-08 TCGA-CJ-6030-11A-01D-1669-08 g.chr13:70281831C>T c.2113G>A c.(2113-2115)Gtt>Att p.V705I KIRC 13 70681442 70681442 + Silent SNP C C A TCGA-B0-4842-01A-02D-1421-08 TCGA-B0-4842-11A-01D-1421-08 g.chr13:70681442C>A c.390G>T c.(388-390)gtG>gtT p.V130V KIRP 13 70371015 70371015 + Missense_Mutation SNP C C G TCGA-B9-A8YI-01A-21D-A36X-10 TCGA-B9-A8YI-10A-01D-A370-10 g.chr13:70371015C>G c.1494G>C c.(1492-1494)caG>caC p.Q498H KIRP 13 70549759 70549759 + Missense_Mutation SNP C C G TCGA-DZ-6135-01A-11D-1961-08 TCGA-DZ-6135-10A-01D-1962-08 g.chr13:70549759C>G c.673G>C c.(673-675)Gca>Cca p.A225P LGG 13 70293517 70293517 + Missense_Mutation SNP G G T TCGA-QH-A6X3-01A-21D-A32B-08 TCGA-QH-A6X3-10B-01D-A329-08 g.chr13:70293517G>T c.1999C>A c.(1999-2001)Ctg>Atg p.L667M LGG 13 70314679 70314679 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:70314679A>G c.1649T>C c.(1648-1650)gTa>gCa p.V550A LGG 13 70681612 70681612 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr13:70681612A>G c.220T>C c.(220-222)Tcc>Ccc p.S74P LIHC 13 70293586 70293586 + Missense_Mutation SNP T T C TCGA-NI-A4U2-01A-11D-A28X-10 TCGA-NI-A4U2-10A-01D-A28X-10 g.chr13:70293586T>C c.1930A>G c.(1930-1932)Aca>Gca p.T644A LIHC 13 70314528 70314528 + Silent SNP G G T TCGA-DD-AAW2-01A-11D-A40P-10 TCGA-DD-AAW2-10A-01D-A40P-10 g.chr13:70314528G>T c.1800C>A c.(1798-1800)ggC>ggA p.G600G LIHC 13 70535471 70535471 + Silent SNP A A G TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr13:70535471A>G c.786T>C c.(784-786)gcT>gcC p.A262A LIHC 13 70535504 70535504 + Missense_Mutation SNP C C G TCGA-DD-AADQ-01A-11D-A40R-10 TCGA-DD-AADQ-10A-01D-A40U-10 g.chr13:70535504C>G c.753G>C c.(751-753)gaG>gaC p.E251D LUAD 13 70281786 70281786 + Missense_Mutation SNP A A T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 g.chr13:70281786A>T c.2158T>A c.(2158-2160)Tat>Aat p.Y720N LUAD 13 70281875 70281875 + Missense_Mutation SNP C C A TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-11A-01D-1753-08 g.chr13:70281875C>A c.2069G>T c.(2068-2070)aGa>aTa p.R690I LUAD 13 70293521 70293521 + Silent SNP C C A TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr13:70293521C>A c.1995G>T c.(1993-1995)cgG>cgT p.R665R LUAD 13 70293595 70293595 + Nonsense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 g.chr13:70293595C>A c.1921G>T c.(1921-1923)Gga>Tga p.G641* LUAD 13 70293636 70293636 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 g.chr13:70293636C>G c.1880G>C c.(1879-1881)tGg>tCg p.W627S LUAD 13 70293649 70293649 + Missense_Mutation SNP G G A TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 g.chr13:70293649G>A c.1867C>T c.(1867-1869)Cat>Tat p.H623Y LUAD 13 70293684 70293684 + Missense_Mutation SNP C C A TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr13:70293684C>A c.1832G>T c.(1831-1833)aGt>aTt p.S611I LUAD 13 70293684 70293684 + Missense_Mutation SNP C C A TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr13:70293684C>A c.1832G>T c.(1831-1833)aGt>aTt p.S611I LUAD 13 70314547 70314547 + Missense_Mutation SNP C C T TCGA-MP-A4TF-01A-11D-A25L-08 TCGA-MP-A4TF-10A-01D-A25L-08 g.chr13:70314547C>T c.1781G>A c.(1780-1782)gGt>gAt p.G594D LUAD 13 70314560 70314560 + Silent SNP G G T TCGA-55-8614-01A-11D-2393-08 TCGA-55-8614-10A-01D-2393-08 g.chr13:70314560G>T c.1768C>A c.(1768-1770)Cgg>Agg p.R590R LUAD 13 70314575 70314575 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr13:70314575T>A c.1753A>T c.(1753-1755)Agt>Tgt p.S585C LUAD 13 70314593 70314593 + Missense_Mutation SNP G G T TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr13:70314593G>T c.1735C>A c.(1735-1737)Caa>Aaa p.Q579K LUAD 13 70314605 70314605 + Missense_Mutation SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr13:70314605G>T c.1723C>A c.(1723-1725)Cca>Aca p.P575T LUAD 13 70314633 70314633 + Missense_Mutation SNP G G T TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 g.chr13:70314633G>T c.1695C>A c.(1693-1695)agC>agA p.S565R LUAD 13 70314688 70314688 + Splice_Site SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr13:70314688C>A c.1640G>T c.(1639-1641)gGt>gTt p.G547V LUAD 13 70370930 70370930 + Missense_Mutation SNP T T A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr13:70370930T>A c.1579A>T c.(1579-1581)Aat>Tat p.N527Y LUAD 13 70370987 70370987 + Missense_Mutation SNP G G C TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr13:70370987G>C c.1522C>G c.(1522-1524)Ctc>Gtc p.L508V LUAD 13 70371027 70371027 + Silent SNP G G T TCGA-44-5643-01A-01D-1625-08 TCGA-44-5643-10A-01D-1625-08 g.chr13:70371027G>T c.1482C>A c.(1480-1482)ggC>ggA p.G494G LUAD 13 70371066 70371066 + Silent SNP C C A TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr13:70371066C>A c.1443G>T c.(1441-1443)ctG>ctT p.L481L LUAD 13 70371085 70371085 + Missense_Mutation SNP G G T TCGA-44-8119-01A-11D-2238-08 TCGA-44-8119-10A-01D-2238-08 g.chr13:70371085G>T c.1424C>A c.(1423-1425)aCt>aAt p.T475N LUAD 13 70371085 70371086 + Frame_Shift_Ins INS - - T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr13:70371085_70371086insT c.1423_1424insA c.(1423-1425)actfs p.T475fs LUAD 13 70413107 70413107 + Splice_Site SNP C C G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 g.chr13:70413107C>G c.e6+1 LUAD 13 70413137 70413137 + Missense_Mutation SNP T T C TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 g.chr13:70413137T>C c.1385A>G c.(1384-1386)tAt>tGt p.Y462C LUAD 13 70456453 70456453 + Missense_Mutation SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr13:70456453G>A c.1189C>T c.(1189-1191)Ctt>Ttt p.L397F LUAD 13 70456537 70456537 + Missense_Mutation SNP C C G TCGA-44-7661-01A-11D-2063-08 TCGA-44-7661-10A-01D-2063-08 g.chr13:70456537C>G c.1105G>C c.(1105-1107)Gtt>Ctt p.V369L LUAD 13 70456600 70456600 + Missense_Mutation SNP G G T TCGA-86-8054-01A-11D-2238-08 TCGA-86-8054-10A-01D-2238-08 g.chr13:70456600G>T c.1042C>A c.(1042-1044)Caa>Aaa p.Q348K LUAD 13 70456616 70456616 + Missense_Mutation SNP C C A TCGA-17-Z028-01A-01W-0746-08 TCGA-17-Z028-11A-01W-0746-08 g.chr13:70456616C>A c.1026G>T c.(1024-1026)atG>atT p.M342I LUAD 13 70456619 70456619 + Silent SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr13:70456619T>A c.1023A>T c.(1021-1023)atA>atT p.I341I LUAD 13 70456627 70456627 + Splice_Site SNP C C A TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chr13:70456627C>A c.1015G>T c.(1015-1017)Gaa>Taa p.E339* LUAD 13 70456628 70456628 + Splice_Site SNP C C A TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chr13:70456628C>A c.e5-1 LUAD 13 70514222 70514222 + Missense_Mutation SNP C C T TCGA-78-8660-01A-11D-2393-08 TCGA-78-8660-10A-01D-2393-08 g.chr13:70514222C>T c.964G>A c.(964-966)Gat>Aat p.D322N LUAD 13 70514333 70514333 + Missense_Mutation SNP G G T TCGA-69-A59K-01A-11D-A25L-08 TCGA-69-A59K-10A-01D-A25L-08 g.chr13:70514333G>T c.853C>A c.(853-855)Ctt>Att p.L285I LUAD 13 70514361 70514361 + Missense_Mutation SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr13:70514361C>A c.825G>T c.(823-825)ttG>ttT p.L275F LUAD 13 70535441 70535441 + Splice_Site SNP T T G TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr13:70535441T>G c.816A>C c.(814-816)acA>acC p.T272T LUAD 13 70535443 70535443 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr13:70535443T>C c.814A>G c.(814-816)Aca>Gca p.T272A LUAD 13 70535449 70535449 + Missense_Mutation SNP C C A TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr13:70535449C>A c.808G>T c.(808-810)Gca>Tca p.A270S LUAD 13 70535456 70535456 + Silent SNP G G T TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr13:70535456G>T c.801C>A c.(799-801)gtC>gtA p.V267V LUAD 13 70535514 70535514 + Missense_Mutation SNP G G C TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 g.chr13:70535514G>C c.743C>G c.(742-744)gCc>gGc p.A248G LUAD 13 70535565 70535565 + Missense_Mutation SNP C C T TCGA-44-7671-01A-11D-2063-08 TCGA-44-7671-10A-01D-2063-08 g.chr13:70535565C>T c.692G>A c.(691-693)aGt>aAt p.S231N LUAD 13 70681342 70681342 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 g.chr13:70681342C>G c.490G>C c.(490-492)Gga>Cga p.G164R LUAD 13 70681367 70681367 + Silent SNP A A G TCGA-44-6144-01A-11D-1753-08 TCGA-44-6144-10A-01D-1753-08 g.chr13:70681367A>G c.465T>C c.(463-465)tcT>tcC p.S155S LUAD 13 70681368 70681368 + Missense_Mutation SNP G G T TCGA-NJ-A55R-01A-11D-A25L-08 TCGA-NJ-A55R-10A-01D-A25L-08 g.chr13:70681368G>T c.464C>A c.(463-465)tCt>tAt p.S155Y LUAD 13 70681381 70681381 + Nonsense_Mutation SNP C C A TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr13:70681381C>A c.451G>T c.(451-453)Gag>Tag p.E151* LUAD 13 70681438 70681438 + Missense_Mutation SNP C C T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 g.chr13:70681438C>T c.394G>A c.(394-396)Ggc>Agc p.G132S LUAD 13 70681444 70681444 + Missense_Mutation SNP C C A TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr13:70681444C>A c.388G>T c.(388-390)Gtg>Ttg p.V130L LUAD 13 70681445 70681445 + Silent SNP C C A TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr13:70681445C>A c.387G>T c.(385-387)gtG>gtT p.V129V LUAD 13 70681450 70681450 + Nonsense_Mutation SNP C C A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr13:70681450C>A c.382G>T c.(382-384)Gag>Tag p.E128* LUAD 13 70681461 70681461 + Nonsense_Mutation SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 g.chr13:70681461G>T c.371C>A c.(370-372)tCa>tAa p.S124* LUAD 13 70681505 70681505 + Frame_Shift_Del DEL C C - TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr13:70681505delC c.327delG c.(325-327)gggfs p.G109fs LUAD 13 70681521 70681521 + Missense_Mutation SNP T T G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr13:70681521T>G c.311A>C c.(310-312)cAg>cCg p.Q104P LUAD 13 70681530 70681530 + Missense_Mutation SNP G G C TCGA-17-Z058-01A-01W-0747-08 TCGA-17-Z058-11A-01W-0747-08 g.chr13:70681530G>C c.302C>G c.(301-303)aCg>aGg p.T101R LUAD 13 70681538 70681538 + Silent SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chr13:70681538T>A c.294A>T c.(292-294)ccA>ccT p.P98P LUAD 13 70681587 70681587 + Missense_Mutation SNP G G C TCGA-44-7667-01A-31D-2063-08 TCGA-44-7667-10A-01D-2063-08 g.chr13:70681587G>C c.245C>G c.(244-246)cCg>cGg p.P82R LUAD 13 70681609 70681609 + Missense_Mutation SNP A A T TCGA-99-8032-01A-11D-2238-08 TCGA-99-8032-10A-01D-2238-08 g.chr13:70681609A>T c.223T>A c.(223-225)Tct>Act p.S75T LUAD 13 70681614 70681614 + Missense_Mutation SNP G G T TCGA-55-8614-01A-11D-2393-08 TCGA-55-8614-10A-01D-2393-08 g.chr13:70681614G>T c.218C>A c.(217-219)tCc>tAc p.S73Y LUAD 13 70681625 70681625 + Missense_Mutation SNP C C A TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 g.chr13:70681625C>A c.207G>T c.(205-207)tgG>tgT p.W69C LUAD 13 70681634 70681634 + Missense_Mutation SNP G G T TCGA-86-7714-01A-12D-2167-08 TCGA-86-7714-10A-01D-2167-08 g.chr13:70681634G>T c.198C>A c.(196-198)agC>agA p.S66R LUAD 13 70681664 70681664 + Silent SNP C C A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr13:70681664C>A c.168G>T c.(166-168)ctG>ctT p.L56L LUAD 13 70681675 70681675 + Missense_Mutation SNP G G T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr13:70681675G>T c.157C>A c.(157-159)Cag>Aag p.Q53K LUAD 13 70681814 70681814 + Silent SNP T T A TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 g.chr13:70681814T>A c.18A>T c.(16-18)cgA>cgT p.R6R LUAD 13 70681815 70681815 + Missense_Mutation SNP C C T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr13:70681815C>T c.17G>A c.(16-18)cGa>cAa p.R6Q LUSC 13 70281777 70281777 + Nonsense_Mutation SNP G G A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr13:70281777G>A c.2167C>T c.(2167-2169)Caa>Taa p.Q723* LUSC 13 70293558 70293558 + Missense_Mutation SNP C C A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr13:70293558C>A c.1958G>T c.(1957-1959)gGa>gTa p.G653V LUSC 13 70293566 70293566 + Nonsense_Mutation SNP A A C TCGA-51-4079-01A-01D-1458-08 TCGA-51-4079-11A-01D-1458-08 g.chr13:70293566A>C c.1950T>G c.(1948-1950)taT>taG p.Y650* LUSC 13 70314552 70314552 + Silent SNP T T A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 g.chr13:70314552T>A c.1776A>T c.(1774-1776)acA>acT p.T592T LUSC 13 70314629 70314629 + Missense_Mutation SNP G G T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 g.chr13:70314629G>T c.1699C>A c.(1699-1701)Ctg>Atg p.L567M LUSC 13 70370953 70370953 + Missense_Mutation SNP G G T TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr13:70370953G>T c.1556C>A c.(1555-1557)aCa>aAa p.T519K LUSC 13 70413282 70413283 + Missense_Mutation DNP GG GG TT TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr13:70413282_70413283GG>TT c.1239_1240CC>AA c.(1237-1242)gaCCta>gaAAta p.413_414DL>EI LUSC 13 70456529 70456529 + Missense_Mutation SNP A A T TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 g.chr13:70456529A>T c.1113T>A c.(1111-1113)gaT>gaA p.D371E LUSC 13 70456586 70456586 + Silent SNP G G T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 g.chr13:70456586G>T c.1056C>A c.(1054-1056)ctC>ctA p.L352L LUSC 13 70514187 70514187 + Silent SNP G G T TCGA-33-4583-01A-01D-1441-08 TCGA-33-4583-11A-01D-1441-08 g.chr13:70514187G>T c.999C>A c.(997-999)gcC>gcA p.A333A LUSC 13 70514196 70514196 + Missense_Mutation SNP C C A TCGA-60-2715-01A-01D-1522-08 TCGA-60-2715-11A-01D-1522-08 g.chr13:70514196C>A c.990G>T c.(988-990)atG>atT p.M330I LUSC 13 70514251 70514251 + Missense_Mutation SNP G G A TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chr13:70514251G>A c.935C>T c.(934-936)tCt>tTt p.S312F LUSC 13 70514254 70514254 + Missense_Mutation SNP G G T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 g.chr13:70514254G>T c.932C>A c.(931-933)cCa>cAa p.P311Q LUSC 13 70514310 70514310 + Silent SNP A A C TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 g.chr13:70514310A>C c.876T>G c.(874-876)ctT>ctG p.L292L LUSC 13 70535466 70535466 + Nonsense_Mutation SNP C C T TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 g.chr13:70535466C>T c.791G>A c.(790-792)tGg>tAg p.W264* LUSC 13 70535578 70535578 + Splice_Site SNP T T C TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 g.chr13:70535578T>C c.e3-2 LUSC 13 70681347 70681347 + Missense_Mutation SNP C C G TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr13:70681347C>G c.485G>C c.(484-486)gGa>gCa p.G162A LUSC 13 70681632 70681632 + Missense_Mutation SNP G G A TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 g.chr13:70681632G>A c.200C>T c.(199-201)aCt>aTt p.T67I LUSC 13 70681657 70681657 + Missense_Mutation SNP T T G TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 g.chr13:70681657T>G c.175A>C c.(175-177)Agc>Cgc p.S59R LUSC 13 70681661 70681661 + Silent SNP G G C TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 g.chr13:70681661G>C c.171C>G c.(169-171)ctC>ctG p.L57L LUSC 13 70681669 70681669 + Missense_Mutation SNP G G C TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr13:70681669G>C c.163C>G c.(163-165)Cgc>Ggc p.R55G LUSC 13 70681734 70681734 + Missense_Mutation SNP G G T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 g.chr13:70681734G>T c.98C>A c.(97-99)gCg>gAg p.A33E PAAD 13 70293595 70293595 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:70293595C>T c.1921G>A c.(1921-1923)Gga>Aga p.G641R PAAD 13 70413134 70413134 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:70413134G>T c.1388C>A c.(1387-1389)gCt>gAt p.A463D PAAD 13 70535555 70535555 + Silent SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 g.chr13:70535555G>A c.702C>T c.(700-702)tcC>tcT p.S234S PAAD 13 70681635 70681635 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr13:70681635C>A c.197G>T c.(196-198)aGc>aTc p.S66I PAAD 13 70681816 70681816 + Nonsense_Mutation SNP G G A TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chr13:70681816G>A c.16C>T c.(16-18)Cga>Tga p.R6* READ 13 70535466 70535466 + Missense_Mutation SNP C C A TCGA-AG-4015-01A-01W-1073-09 TCGA-AG-4015-10A-01W-1073-09 g.chr13:70535466C>A c.791G>T c.(790-792)tGg>tTg p.W264L SARC 13 70371041 70371041 + Missense_Mutation SNP C C T TCGA-KD-A5QS-01A-11D-A27P-09 TCGA-KD-A5QS-10A-01D-A27P-09 g.chr13:70371041C>T c.1468G>A c.(1468-1470)Ggg>Agg p.G490R SARC 13 70456450 70456450 + Missense_Mutation SNP G G C TCGA-LI-A9QH-01A-11D-A37C-09 TCGA-LI-A9QH-10A-01D-A37F-09 g.chr13:70456450G>C c.1192C>G c.(1192-1194)Ctt>Gtt p.L398V SARC 13 70681572 70681572 + Missense_Mutation SNP G G T TCGA-SG-A6Z4-01A-22D-A33E-09 TCGA-SG-A6Z4-10A-01D-A33H-09 g.chr13:70681572G>T c.260C>A c.(259-261)tCt>tAt p.S87Y SKCM 13 70275840 70275840 + Silent SNP T T C TCGA-D9-A6E9-06A-12D-A30X-08 TCGA-D9-A6E9-10A-01D-A30X-08 g.chr13:70275840T>C c.2241A>G c.(2239-2241)caA>caG p.Q747Q SKCM 13 70275875 70275875 + Missense_Mutation SNP C C A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr13:70275875C>A c.2206G>T c.(2206-2208)Ggg>Tgg p.G736W SKCM 13 70281842 70281842 + Missense_Mutation SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr13:70281842C>T c.2102G>A c.(2101-2103)aGa>aAa p.R701K SKCM 13 70281853 70281853 + Silent SNP G G A TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr13:70281853G>A c.2091C>T c.(2089-2091)ctC>ctT p.L697L SKCM 13 70281891 70281891 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr13:70281891G>A c.2053C>T c.(2053-2055)Cct>Tct p.P685S SKCM 13 70281924 70281924 + Missense_Mutation SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr13:70281924C>T c.2020G>A c.(2020-2022)Gat>Aat p.D674N SKCM 13 70281924 70281924 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:70281924C>T c.2020G>A c.(2020-2022)Gat>Aat p.D674N SKCM 13 70293603 70293603 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr13:70293603C>T c.1913G>A c.(1912-1914)gGg>gAg p.G638E SKCM 13 70293634 70293634 + Missense_Mutation SNP T T C TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr13:70293634T>C c.1882A>G c.(1882-1884)Aac>Gac p.N628D SKCM 13 70293705 70293705 + Missense_Mutation SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr13:70293705G>A c.1811C>T c.(1810-1812)tCa>tTa p.S604L SKCM 13 70314559 70314559 + Missense_Mutation SNP C C T TCGA-ER-A19S-06A-11D-A196-08 TCGA-ER-A19S-10A-01D-A198-08 g.chr13:70314559C>T c.1769G>A c.(1768-1770)cGg>cAg p.R590Q SKCM 13 70314608 70314608 + Missense_Mutation SNP C C T TCGA-ER-A195-06A-11D-A196-08 TCGA-ER-A195-10A-01D-A198-08 g.chr13:70314608C>T c.1720G>A c.(1720-1722)Gat>Aat p.D574N SKCM 13 70314627 70314627 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr13:70314627C>T c.1701G>A c.(1699-1701)ctG>ctA p.L567L SKCM 13 70371006 70371006 + Silent SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr13:70371006C>T c.1503G>A c.(1501-1503)gtG>gtA p.V501V SKCM 13 70371056 70371056 + Silent SNP G G A TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 g.chr13:70371056G>A c.1453C>T c.(1453-1455)Ctg>Ttg p.L485L SKCM 13 70371071 70371071 + Missense_Mutation SNP C C T TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chr13:70371071C>T c.1438G>A c.(1438-1440)Gat>Aat p.D480N SKCM 13 70413255 70413255 + Missense_Mutation SNP C C T TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr13:70413255C>T c.1267G>A c.(1267-1269)Gat>Aat p.D423N SKCM 13 70413256 70413256 + Silent SNP A A G TCGA-EE-A3J3-06A-11D-A20D-08 TCGA-EE-A3J3-10A-01D-A20D-08 g.chr13:70413256A>G c.1266T>C c.(1264-1266)aaT>aaC p.N422N SKCM 13 70456507 70456507 + Missense_Mutation SNP A A T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr13:70456507A>T c.1135T>A c.(1135-1137)Ttg>Atg p.L379M SKCM 13 70456521 70456521 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr13:70456521G>A c.1121C>T c.(1120-1122)aCc>aTc p.T374I SKCM 13 70514274 70514274 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr13:70514274G>A c.912C>T c.(910-912)ttC>ttT p.F304F SKCM 13 70514312 70514312 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr13:70514312G>A c.874C>T c.(874-876)Ctt>Ttt p.L292F SKCM 13 70514339 70514339 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:70514339C>T c.847G>A c.(847-849)Gag>Aag p.E283K SKCM 13 70535503 70535503 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr13:70535503C>T c.754G>A c.(754-756)Gag>Aag p.E252K SKCM 13 70535554 70535554 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr13:70535554C>T c.703G>A c.(703-705)Gac>Aac p.D235N SKCM 13 70535554 70535554 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:70535554C>T c.703G>A c.(703-705)Gac>Aac p.D235N SKCM 13 70549773 70549773 + Missense_Mutation SNP T T C TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr13:70549773T>C c.659A>G c.(658-660)aAc>aGc p.N220S SKCM 13 70549852 70549852 + Missense_Mutation SNP G G A TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr13:70549852G>A c.580C>T c.(580-582)Cat>Tat p.H194Y SKCM 13 70681382 70681382 + Silent SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr13:70681382C>T c.450G>A c.(448-450)gtG>gtA p.V150V SKCM 13 70681510 70681510 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr13:70681510G>A c.322C>T c.(322-324)Cct>Tct p.P108S SKCM 13 70681625 70681625 + Nonsense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr13:70681625C>T c.207G>A c.(205-207)tgG>tgA p.W69* SKCM 13 70681651 70681651 + Missense_Mutation SNP C C T TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chr13:70681651C>T c.181G>A c.(181-183)Gag>Aag p.E61K

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 13 70456475 70456475 single base substitution A T missense_variant S196R 588T>A BLCA-CN 13 70456475 70456475 single base substitution A T missense_variant S389R 1167T>A BLCA-CN 13 70514287 70514287 single base substitution A C missense_variant V107G 320T>G BLCA-CN 13 70514287 70514287 single base substitution A C missense_variant V300G 899T>G BLCA-US 13 70314531 70314531 single base substitution A G synonymous_variant N406N 1218T>C BLCA-US 13 70314531 70314531 single base substitution A G synonymous_variant N599N 1797T>C BLCA-US 13 70314576 70314576 single base substitution G A synonymous_variant A391A 1173C>T BLCA-US 13 70314576 70314576 single base substitution G A synonymous_variant A584A 1752C>T BLCA-US 13 70535552 70535552 single base substitution G T missense_variant D235E 705C>A BLCA-US 13 70535552 70535552 single base substitution G T missense_variant D42E 126C>A BLCA-US 13 70681399 70681399 single base substitution G A synonymous_variant L13L 37C>T BLCA-US 13 70681399 70681399 single base substitution G A synonymous_variant L145L 433C>T BLCA-US 13 70681477 70681477 single base substitution G A 5_prime_UTR_variant BLCA-US 13 70681477 70681477 single base substitution G A missense_variant L119F 355C>T BLCA-US 13 70681661 70681661 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 13 70681661 70681661 single base substitution G C synonymous_variant L57L 171C>G BOCA-FR 13 70270873 70270873 single base substitution T A downstream_gene_variant BOCA-FR 13 70274882 70274882 single base substitution C T 3_prime_UTR_variant BOCA-FR 13 70274882 70274882 single base substitution C T downstream_gene_variant BOCA-FR 13 70292074 70292074 single base substitution C T intron_variant BOCA-FR 13 70305159 70305159 single base substitution G A intron_variant BOCA-FR 13 70422878 70422878 single base substitution G A intron_variant BOCA-FR 13 70428746 70428746 single base substitution T C intron_variant BOCA-FR 13 70469034 70469034 single base substitution C A intron_variant BOCA-FR 13 70548902 70548902 single base substitution A G intron_variant BOCA-FR 13 70571015 70571015 single base substitution A C intron_variant BOCA-FR 13 70588541 70588541 single base substitution G T intron_variant BOCA-FR 13 70651998 70651998 single base substitution C T intron_variant BOCA-FR 13 70665361 70665361 single base substitution T G intron_variant BOCA-FR 13 70671518 70671518 single base substitution T G intron_variant BOCA-FR 13 70678837 70678837 single base substitution G T intron_variant BOCA-FR 13 70680918 70680918 single base substitution G T intron_variant BRCA-EU 13 70270160 70270160 single base substitution G A downstream_gene_variant BRCA-EU 13 70270823 70270823 insertion of <=200bp - A downstream_gene_variant BRCA-EU 13 70272484 70272484 single base substitution G A downstream_gene_variant BRCA-EU 13 70275506 70275506 single base substitution C T 3_prime_UTR_variant BRCA-EU 13 70275506 70275506 single base substitution C T downstream_gene_variant BRCA-EU 13 70276111 70276111 single base substitution G C intron_variant BRCA-EU 13 70277794 70277794 deletion of <=200bp G - intron_variant BRCA-EU 13 70277912 70277912 single base substitution C T intron_variant BRCA-EU 13 70278270 70278270 single base substitution C G intron_variant BRCA-EU 13 70278451 70278451 single base substitution G T intron_variant BRCA-EU 13 70280044 70280044 single base substitution T A intron_variant BRCA-EU 13 70281211 70281211 single base substitution G A intron_variant BRCA-EU 13 70281371 70281371 single base substitution G C intron_variant BRCA-EU 13 70281453 70281453 single base substitution T C intron_variant BRCA-EU 13 70281855 70281855 single base substitution G A missense_variant L504F 1510C>T BRCA-EU 13 70281855 70281855 single base substitution G A missense_variant L697F 2089C>T BRCA-EU 13 70282712 70282712 single base substitution A G intron_variant BRCA-EU 13 70283354 70283354 single base substitution T C intron_variant BRCA-EU 13 70284245 70284245 single base substitution G T intron_variant BRCA-EU 13 70284934 70284934 deletion of <=200bp G - intron_variant BRCA-EU 13 70285313 70285313 single base substitution T C intron_variant BRCA-EU 13 70285505 70285505 single base substitution G A intron_variant BRCA-EU 13 70285614 70285614 single base substitution A C intron_variant BRCA-EU 13 70286501 70286501 single base substitution G A intron_variant BRCA-EU 13 70288367 70288367 single base substitution T A intron_variant BRCA-EU 13 70288721 70288721 single base substitution A G intron_variant BRCA-EU 13 70289022 70289022 single base substitution G A intron_variant BRCA-EU 13 70290141 70290141 single base substitution T G intron_variant BRCA-EU 13 70290591 70290591 single base substitution G A intron_variant BRCA-EU 13 70291012 70291012 single base substitution C A intron_variant BRCA-EU 13 70293179 70293179 single base substitution G C intron_variant BRCA-EU 13 70294710 70294710 single base substitution G A intron_variant BRCA-EU 13 70295272 70295272 insertion of <=200bp - A intron_variant BRCA-EU 13 70295372 70295372 single base substitution C A intron_variant BRCA-EU 13 70296871 70296871 single base substitution C T intron_variant BRCA-EU 13 70297040 70297040 single base substitution G A intron_variant BRCA-EU 13 70298454 70298454 single base substitution G A intron_variant BRCA-EU 13 70298635 70298635 single base substitution C A intron_variant BRCA-EU 13 70299536 70299536 single base substitution G C intron_variant BRCA-EU 13 70301981 70301981 single base substitution C T intron_variant BRCA-EU 13 70302773 70302773 single base substitution A T intron_variant BRCA-EU 13 70302837 70302837 single base substitution G T intron_variant BRCA-EU 13 70303319 70303319 single base substitution T C intron_variant BRCA-EU 13 70303676 70303676 deletion of <=200bp A - intron_variant BRCA-EU 13 70303813 70303813 single base substitution C G intron_variant BRCA-EU 13 70305673 70305673 single base substitution G T intron_variant BRCA-EU 13 70306123 70306123 single base substitution T G intron_variant BRCA-EU 13 70306125 70306125 deletion of <=200bp A - intron_variant BRCA-EU 13 70306584 70306584 single base substitution G T intron_variant BRCA-EU 13 70308179 70308179 deletion of <=200bp T - intron_variant BRCA-EU 13 70309128 70309128 single base substitution G A intron_variant BRCA-EU 13 70311893 70311893 single base substitution G A intron_variant BRCA-EU 13 70311974 70311974 single base substitution G A intron_variant BRCA-EU 13 70312600 70312600 single base substitution T C intron_variant BRCA-EU 13 70313680 70313680 single base substitution A C intron_variant BRCA-EU 13 70318034 70318034 single base substitution G C intron_variant BRCA-EU 13 70318530 70318530 single base substitution G T intron_variant BRCA-EU 13 70318696 70318696 single base substitution G A intron_variant BRCA-EU 13 70318960 70318960 single base substitution A T intron_variant BRCA-EU 13 70323684 70323684 single base substitution T G intron_variant BRCA-EU 13 70323822 70323822 single base substitution G C intron_variant BRCA-EU 13 70324866 70324866 single base substitution A G intron_variant BRCA-EU 13 70324886 70324886 single base substitution G C intron_variant BRCA-EU 13 70325560 70325560 single base substitution A G intron_variant BRCA-EU 13 70326812 70326812 single base substitution A T intron_variant BRCA-EU 13 70327908 70327908 single base substitution C T intron_variant BRCA-EU 13 70328780 70328780 single base substitution G A intron_variant BRCA-EU 13 70329180 70329180 single base substitution T A intron_variant BRCA-EU 13 70329332 70329332 single base substitution G T intron_variant BRCA-EU 13 70330064 70330064 single base substitution C A intron_variant BRCA-EU 13 70330621 70330621 single base substitution G A intron_variant BRCA-EU 13 70331287 70331287 single base substitution C T intron_variant BRCA-EU 13 70333460 70333460 single base substitution G A intron_variant BRCA-EU 13 70333627 70333627 single base substitution C G intron_variant BRCA-EU 13 70333822 70333822 single base substitution A T intron_variant BRCA-EU 13 70334551 70334551 single base substitution G C intron_variant BRCA-EU 13 70334623 70334623 single base substitution G A intron_variant BRCA-EU 13 70334848 70334848 single base substitution C A intron_variant BRCA-EU 13 70335512 70335512 single base substitution A T intron_variant BRCA-EU 13 70336250 70336250 single base substitution C T intron_variant BRCA-EU 13 70337032 70337032 single base substitution G A intron_variant BRCA-EU 13 70337066 70337066 single base substitution T G intron_variant BRCA-EU 13 70337804 70337804 single base substitution C T intron_variant BRCA-EU 13 70338541 70338541 single base substitution T C intron_variant BRCA-EU 13 70339208 70339208 single base substitution T G intron_variant BRCA-EU 13 70339551 70339551 single base substitution A C intron_variant BRCA-EU 13 70340603 70340603 insertion of <=200bp - TA intron_variant BRCA-EU 13 70340616 70340616 insertion of <=200bp - AT intron_variant BRCA-EU 13 70341960 70341960 single base substitution C T intron_variant BRCA-EU 13 70343116 70343116 single base substitution C A intron_variant BRCA-EU 13 70345932 70345932 single base substitution A G intron_variant BRCA-EU 13 70346888 70346888 single base substitution G C intron_variant BRCA-EU 13 70347915 70347915 single base substitution T A intron_variant BRCA-EU 13 70347917 70347917 single base substitution C A intron_variant BRCA-EU 13 70349258 70349258 single base substitution C A intron_variant BRCA-EU 13 70351437 70351437 single base substitution T G intron_variant BRCA-EU 13 70352748 70352748 single base substitution A T intron_variant BRCA-EU 13 70353358 70353358 single base substitution C T intron_variant BRCA-EU 13 70353965 70353965 single base substitution G A intron_variant BRCA-EU 13 70356083 70356083 single base substitution G C intron_variant BRCA-EU 13 70356545 70356545 single base substitution C G intron_variant BRCA-EU 13 70357258 70357258 single base substitution G T intron_variant BRCA-EU 13 70359271 70359271 single base substitution G A intron_variant BRCA-EU 13 70362632 70362632 single base substitution G A intron_variant BRCA-EU 13 70362988 70362988 single base substitution T C intron_variant BRCA-EU 13 70363582 70363582 single base substitution T G intron_variant BRCA-EU 13 70363986 70363986 single base substitution C T intron_variant BRCA-EU 13 70364966 70364966 single base substitution G A intron_variant BRCA-EU 13 70366724 70366724 single base substitution G C intron_variant BRCA-EU 13 70367173 70367173 single base substitution C G intron_variant BRCA-EU 13 70367693 70367693 single base substitution C G intron_variant BRCA-EU 13 70368422 70368422 single base substitution C T intron_variant BRCA-EU 13 70368638 70368638 single base substitution C T intron_variant BRCA-EU 13 70368769 70368769 single base substitution A T intron_variant BRCA-EU 13 70368770 70368770 single base substitution G T intron_variant BRCA-EU 13 70369357 70369357 single base substitution T C intron_variant BRCA-EU 13 70369615 70369615 single base substitution C T intron_variant BRCA-EU 13 70372502 70372502 single base substitution G T intron_variant BRCA-EU 13 70372565 70372565 single base substitution T C intron_variant BRCA-EU 13 70373126 70373126 single base substitution C A intron_variant BRCA-EU 13 70373213 70373213 single base substitution C T intron_variant BRCA-EU 13 70373445 70373445 single base substitution C T intron_variant BRCA-EU 13 70373593 70373593 single base substitution A T intron_variant BRCA-EU 13 70376182 70376182 single base substitution T C intron_variant BRCA-EU 13 70377232 70377232 single base substitution G C intron_variant BRCA-EU 13 70377588 70377588 single base substitution A C intron_variant BRCA-EU 13 70377759 70377759 single base substitution G A intron_variant BRCA-EU 13 70378531 70378531 single base substitution G T intron_variant BRCA-EU 13 70380416 70380416 single base substitution C T intron_variant BRCA-EU 13 70380952 70380952 single base substitution A T intron_variant BRCA-EU 13 70383275 70383275 single base substitution T A intron_variant BRCA-EU 13 70383669 70383669 single base substitution C T intron_variant BRCA-EU 13 70383830 70383830 single base substitution T A intron_variant BRCA-EU 13 70384381 70384381 single base substitution C G intron_variant BRCA-EU 13 70384689 70384689 single base substitution G T intron_variant BRCA-EU 13 70384736 70384736 single base substitution C T intron_variant BRCA-EU 13 70384873 70384873 deletion of <=200bp A - intron_variant BRCA-EU 13 70385220 70385220 single base substitution C T intron_variant BRCA-EU 13 70385224 70385224 single base substitution G A intron_variant BRCA-EU 13 70385903 70385903 single base substitution A C intron_variant BRCA-EU 13 70386046 70386046 single base substitution C G intron_variant BRCA-EU 13 70386644 70386644 single base substitution G C intron_variant BRCA-EU 13 70387350 70387350 single base substitution G A intron_variant BRCA-EU 13 70387653 70387653 single base substitution G C intron_variant BRCA-EU 13 70387701 70387701 single base substitution C G intron_variant BRCA-EU 13 70387975 70387975 single base substitution A T intron_variant BRCA-EU 13 70388445 70388445 single base substitution A T intron_variant BRCA-EU 13 70389925 70389925 single base substitution T C intron_variant BRCA-EU 13 70390152 70390152 insertion of <=200bp - A intron_variant BRCA-EU 13 70390258 70390258 single base substitution C A intron_variant BRCA-EU 13 70391451 70391451 single base substitution A G intron_variant BRCA-EU 13 70391514 70391514 single base substitution C T intron_variant BRCA-EU 13 70391960 70391960 single base substitution C A intron_variant BRCA-EU 13 70392416 70392416 single base substitution G A intron_variant BRCA-EU 13 70393021 70393021 single base substitution C T intron_variant BRCA-EU 13 70393302 70393303 deletion of <=200bp TT - intron_variant BRCA-EU 13 70395732 70395732 single base substitution C T intron_variant BRCA-EU 13 70395745 70395745 single base substitution C G intron_variant BRCA-EU 13 70396090 70396090 single base substitution G C intron_variant BRCA-EU 13 70396795 70396795 deletion of <=200bp A - intron_variant BRCA-EU 13 70397478 70397478 single base substitution C A intron_variant BRCA-EU 13 70398068 70398068 single base substitution C T intron_variant BRCA-EU 13 70398328 70398328 single base substitution G T intron_variant BRCA-EU 13 70398471 70398471 single base substitution C G intron_variant BRCA-EU 13 70399449 70399449 single base substitution G T intron_variant BRCA-EU 13 70399501 70399501 single base substitution G A intron_variant BRCA-EU 13 70400833 70400833 single base substitution T G intron_variant BRCA-EU 13 70401306 70401306 single base substitution A G intron_variant BRCA-EU 13 70402678 70402678 single base substitution C T intron_variant BRCA-EU 13 70403220 70403220 single base substitution T A intron_variant BRCA-EU 13 70403361 70403361 single base substitution T C intron_variant BRCA-EU 13 70403603 70403603 single base substitution A C intron_variant BRCA-EU 13 70404525 70404525 single base substitution A G intron_variant BRCA-EU 13 70405830 70405830 single base substitution C T intron_variant BRCA-EU 13 70406168 70406168 single base substitution A C intron_variant BRCA-EU 13 70408785 70408785 single base substitution C T intron_variant BRCA-EU 13 70409142 70409142 single base substitution G A intron_variant BRCA-EU 13 70410239 70410239 single base substitution C G intron_variant BRCA-EU 13 70410369 70410369 single base substitution A C intron_variant BRCA-EU 13 70410370 70410370 single base substitution G C intron_variant BRCA-EU 13 70410545 70410545 single base substitution T G intron_variant BRCA-EU 13 70412241 70412241 deletion of <=200bp T - intron_variant BRCA-EU 13 70413147 70413147 single base substitution C T missense_variant G266R 796G>A BRCA-EU 13 70413147 70413147 single base substitution C T missense_variant G459R 1375G>A BRCA-EU 13 70413266 70413266 single base substitution A G missense_variant L226S 677T>C BRCA-EU 13 70413266 70413266 single base substitution A G missense_variant L419S 1256T>C BRCA-EU 13 70413596 70413596 single base substitution C G intron_variant BRCA-EU 13 70414513 70414513 single base substitution G A intron_variant BRCA-EU 13 70414638 70414638 single base substitution G T intron_variant BRCA-EU 13 70415462 70415462 insertion of <=200bp - A intron_variant BRCA-EU 13 70416615 70416615 single base substitution C T intron_variant BRCA-EU 13 70417743 70417747 deletion of <=200bp TTTAA - intron_variant BRCA-EU 13 70417879 70417879 single base substitution A C intron_variant BRCA-EU 13 70417944 70417944 deletion of <=200bp T - intron_variant BRCA-EU 13 70417988 70417988 single base substitution G C intron_variant BRCA-EU 13 70418173 70418173 single base substitution G A intron_variant BRCA-EU 13 70418685 70418685 single base substitution G A intron_variant BRCA-EU 13 70419588 70419588 single base substitution A G intron_variant BRCA-EU 13 70420454 70420454 single base substitution C T intron_variant BRCA-EU 13 70422957 70422957 single base substitution T C intron_variant BRCA-EU 13 70423626 70423626 single base substitution C G intron_variant BRCA-EU 13 70424500 70424500 single base substitution C T intron_variant BRCA-EU 13 70424501 70424501 single base substitution C T intron_variant BRCA-EU 13 70424993 70424993 single base substitution C T intron_variant BRCA-EU 13 70425672 70425672 single base substitution C T intron_variant BRCA-EU 13 70425754 70425754 single base substitution G C intron_variant BRCA-EU 13 70426279 70426279 single base substitution G C intron_variant BRCA-EU 13 70426414 70426414 single base substitution G A intron_variant BRCA-EU 13 70427010 70427010 single base substitution A T intron_variant BRCA-EU 13 70427486 70427486 single base substitution C A intron_variant BRCA-EU 13 70428022 70428022 single base substitution A G intron_variant BRCA-EU 13 70428451 70428451 single base substitution G A intron_variant BRCA-EU 13 70428453 70428453 single base substitution G A intron_variant BRCA-EU 13 70428532 70428532 single base substitution G A intron_variant BRCA-EU 13 70429068 70429068 single base substitution G A intron_variant BRCA-EU 13 70429537 70429537 insertion of <=200bp - GATACAGATAGAGATAGAGACAGAGATAGAGATAGACAGT intron_variant BRCA-EU 13 70429649 70429649 single base substitution G A intron_variant BRCA-EU 13 70429783 70429783 single base substitution G A intron_variant BRCA-EU 13 70430204 70430204 single base substitution G A intron_variant BRCA-EU 13 70431301 70431301 single base substitution A C intron_variant BRCA-EU 13 70432310 70432310 single base substitution A C intron_variant BRCA-EU 13 70433549 70433549 single base substitution C T intron_variant BRCA-EU 13 70433683 70433683 single base substitution A C intron_variant BRCA-EU 13 70435282 70435282 single base substitution C T intron_variant BRCA-EU 13 70437449 70437449 single base substitution G C intron_variant BRCA-EU 13 70437480 70437480 single base substitution G T intron_variant BRCA-EU 13 70437516 70437516 single base substitution A C intron_variant BRCA-EU 13 70437571 70437571 single base substitution T G intron_variant BRCA-EU 13 70437712 70437712 insertion of <=200bp - T intron_variant BRCA-EU 13 70439317 70439318 deletion of <=200bp TC - intron_variant BRCA-EU 13 70440630 70440630 single base substitution T A intron_variant BRCA-EU 13 70440662 70440662 single base substitution C T intron_variant BRCA-EU 13 70441068 70441068 single base substitution T A intron_variant BRCA-EU 13 70441628 70441628 single base substitution T G intron_variant BRCA-EU 13 70441732 70441732 single base substitution T G intron_variant BRCA-EU 13 70443088 70443088 single base substitution A G intron_variant BRCA-EU 13 70443418 70443418 single base substitution T C intron_variant BRCA-EU 13 70444186 70444186 single base substitution G A intron_variant BRCA-EU 13 70446605 70446605 single base substitution G A intron_variant BRCA-EU 13 70448494 70448494 single base substitution A T intron_variant BRCA-EU 13 70448950 70448950 single base substitution A G intron_variant BRCA-EU 13 70449732 70449747 deletion of <=200bp TGCATGTGAATGTCCT - intron_variant BRCA-EU 13 70449775 70449775 single base substitution C A intron_variant BRCA-EU 13 70449848 70449848 single base substitution A G intron_variant BRCA-EU 13 70451230 70451230 single base substitution C A intron_variant BRCA-EU 13 70452375 70452375 deletion of <=200bp T - intron_variant BRCA-EU 13 70453342 70453342 insertion of <=200bp - AT intron_variant BRCA-EU 13 70454630 70454630 single base substitution G A intron_variant BRCA-EU 13 70456239 70456239 single base substitution G A intron_variant BRCA-EU 13 70457254 70457254 single base substitution T C intron_variant BRCA-EU 13 70457387 70457387 single base substitution C G intron_variant BRCA-EU 13 70459020 70459020 single base substitution A G intron_variant BRCA-EU 13 70459714 70459714 single base substitution G C intron_variant BRCA-EU 13 70459729 70459729 single base substitution C T intron_variant BRCA-EU 13 70460386 70460386 single base substitution A T intron_variant BRCA-EU 13 70461675 70461675 single base substitution C G intron_variant BRCA-EU 13 70462428 70462428 single base substitution G A intron_variant BRCA-EU 13 70463946 70463946 single base substitution T G intron_variant BRCA-EU 13 70465093 70465093 single base substitution A C intron_variant BRCA-EU 13 70465424 70465424 insertion of <=200bp - T intron_variant BRCA-EU 13 70465497 70465497 single base substitution A G intron_variant BRCA-EU 13 70466858 70466858 single base substitution A G intron_variant BRCA-EU 13 70467091 70467091 single base substitution A G intron_variant BRCA-EU 13 70467990 70467990 single base substitution G A intron_variant BRCA-EU 13 70468511 70468511 single base substitution G T intron_variant BRCA-EU 13 70470780 70470780 single base substitution G A intron_variant BRCA-EU 13 70472361 70472361 single base substitution C T intron_variant BRCA-EU 13 70473766 70473766 single base substitution G A intron_variant BRCA-EU 13 70475616 70475616 single base substitution G A intron_variant BRCA-EU 13 70475706 70475706 single base substitution G C intron_variant BRCA-EU 13 70476329 70476329 single base substitution A T intron_variant BRCA-EU 13 70478089 70478089 deletion of <=200bp T - intron_variant BRCA-EU 13 70478917 70478917 single base substitution G T intron_variant BRCA-EU 13 70479043 70479043 single base substitution A C intron_variant BRCA-EU 13 70479960 70479960 single base substitution C T intron_variant BRCA-EU 13 70480264 70480264 single base substitution T C intron_variant BRCA-EU 13 70481293 70481313 deletion of <=200bp CTTATGTTTGTGAGCAAAGCT - intron_variant BRCA-EU 13 70482184 70482184 single base substitution T C intron_variant BRCA-EU 13 70482384 70482384 single base substitution G C intron_variant BRCA-EU 13 70483934 70483934 single base substitution T G intron_variant BRCA-EU 13 70484375 70484375 single base substitution A C intron_variant BRCA-EU 13 70485915 70485919 deletion of <=200bp TTCTT - intron_variant BRCA-EU 13 70487918 70487918 single base substitution A C intron_variant BRCA-EU 13 70488681 70488681 single base substitution C A intron_variant BRCA-EU 13 70489261 70489261 single base substitution G T intron_variant BRCA-EU 13 70490520 70490520 single base substitution C A intron_variant BRCA-EU 13 70490626 70490626 single base substitution A C intron_variant BRCA-EU 13 70490893 70490893 deletion of <=200bp A - intron_variant BRCA-EU 13 70493102 70493102 single base substitution T C intron_variant BRCA-EU 13 70495427 70495427 single base substitution T G intron_variant BRCA-EU 13 70496337 70496337 single base substitution C G intron_variant BRCA-EU 13 70496559 70496559 single base substitution C A intron_variant BRCA-EU 13 70497717 70497717 single base substitution G C intron_variant BRCA-EU 13 70497779 70497779 single base substitution G C intron_variant BRCA-EU 13 70498410 70498410 single base substitution G T intron_variant BRCA-EU 13 70498565 70498565 single base substitution C T intron_variant BRCA-EU 13 70499106 70499106 single base substitution A C intron_variant BRCA-EU 13 70500587 70500587 single base substitution A G intron_variant BRCA-EU 13 70500802 70500802 single base substitution G A intron_variant BRCA-EU 13 70500934 70500934 single base substitution C T intron_variant BRCA-EU 13 70501711 70501711 single base substitution T A intron_variant BRCA-EU 13 70501776 70501776 single base substitution C T intron_variant BRCA-EU 13 70505474 70505474 single base substitution C T intron_variant BRCA-EU 13 70505679 70505679 single base substitution T A intron_variant BRCA-EU 13 70506103 70506103 single base substitution A G intron_variant BRCA-EU 13 70506546 70506546 single base substitution C A intron_variant BRCA-EU 13 70506622 70506622 single base substitution G A intron_variant BRCA-EU 13 70506769 70506769 single base substitution A T intron_variant BRCA-EU 13 70507768 70507768 single base substitution G A intron_variant BRCA-EU 13 70507895 70507895 single base substitution A G intron_variant BRCA-EU 13 70507957 70507957 deletion of <=200bp T - intron_variant BRCA-EU 13 70508650 70508650 single base substitution T C intron_variant BRCA-EU 13 70510133 70510133 single base substitution G T intron_variant BRCA-EU 13 70511436 70511436 single base substitution G C intron_variant BRCA-EU 13 70512163 70512163 deletion of <=200bp A - intron_variant BRCA-EU 13 70512163 70512163 insertion of <=200bp - A intron_variant BRCA-EU 13 70512356 70512356 single base substitution T G intron_variant BRCA-EU 13 70514495 70514495 single base substitution A C intron_variant BRCA-EU 13 70517587 70517587 single base substitution G A intron_variant BRCA-EU 13 70517603 70517603 single base substitution G C intron_variant BRCA-EU 13 70518216 70518216 single base substitution G A intron_variant BRCA-EU 13 70518536 70518536 single base substitution A G intron_variant BRCA-EU 13 70518870 70518870 single base substitution A G intron_variant BRCA-EU 13 70518890 70518890 single base substitution C A intron_variant BRCA-EU 13 70519191 70519191 single base substitution C A intron_variant BRCA-EU 13 70521890 70521890 single base substitution A T intron_variant BRCA-EU 13 70523378 70523378 single base substitution G C intron_variant BRCA-EU 13 70523514 70523514 single base substitution C T intron_variant BRCA-EU 13 70525205 70525205 single base substitution A G intron_variant BRCA-EU 13 70525243 70525243 single base substitution G C intron_variant BRCA-EU 13 70526347 70526347 single base substitution A G intron_variant BRCA-EU 13 70526846 70526846 single base substitution G A intron_variant BRCA-EU 13 70526914 70526914 single base substitution G C intron_variant BRCA-EU 13 70527670 70527670 single base substitution T A intron_variant BRCA-EU 13 70527687 70527687 single base substitution G C intron_variant BRCA-EU 13 70527884 70527884 single base substitution A C intron_variant BRCA-EU 13 70528290 70528290 single base substitution G A intron_variant BRCA-EU 13 70531164 70531164 single base substitution G C intron_variant BRCA-EU 13 70531990 70531990 single base substitution G A intron_variant BRCA-EU 13 70533279 70533279 single base substitution C G intron_variant BRCA-EU 13 70533436 70533436 single base substitution G C intron_variant BRCA-EU 13 70534141 70534141 single base substitution T C intron_variant BRCA-EU 13 70534528 70534528 single base substitution A G intron_variant BRCA-EU 13 70534766 70534766 single base substitution C A intron_variant BRCA-EU 13 70535651 70535651 single base substitution C T intron_variant BRCA-EU 13 70536572 70536572 single base substitution A T intron_variant BRCA-EU 13 70538110 70538110 deletion of <=200bp T - intron_variant BRCA-EU 13 70538389 70538389 single base substitution G C intron_variant BRCA-EU 13 70539170 70539170 single base substitution G C intron_variant BRCA-EU 13 70539419 70539419 single base substitution C T intron_variant BRCA-EU 13 70539641 70539641 single base substitution C T intron_variant BRCA-EU 13 70539675 70539675 single base substitution C T intron_variant BRCA-EU 13 70541146 70541146 single base substitution A C intron_variant BRCA-EU 13 70543830 70543830 deletion of <=200bp A - intron_variant BRCA-EU 13 70544619 70544619 single base substitution C A intron_variant BRCA-EU 13 70545474 70545474 single base substitution T C intron_variant BRCA-EU 13 70545498 70545498 single base substitution G T intron_variant BRCA-EU 13 70547062 70547062 single base substitution T A intron_variant BRCA-EU 13 70550831 70550831 single base substitution G A intron_variant BRCA-EU 13 70550975 70550975 single base substitution A T intron_variant BRCA-EU 13 70551004 70551004 single base substitution G A intron_variant BRCA-EU 13 70553049 70553049 single base substitution A T intron_variant BRCA-EU 13 70554696 70554696 single base substitution T G intron_variant BRCA-EU 13 70555519 70555519 deletion of <=200bp T - intron_variant BRCA-EU 13 70556677 70556677 single base substitution G C intron_variant BRCA-EU 13 70557200 70557200 single base substitution C A intron_variant BRCA-EU 13 70558169 70558169 single base substitution G T intron_variant BRCA-EU 13 70559231 70559231 single base substitution G A intron_variant BRCA-EU 13 70560769 70560769 single base substitution G T intron_variant BRCA-EU 13 70561207 70561207 single base substitution T G intron_variant BRCA-EU 13 70561310 70561310 single base substitution C G intron_variant BRCA-EU 13 70561761 70561761 single base substitution A G intron_variant BRCA-EU 13 70562081 70562081 deletion of <=200bp T - intron_variant BRCA-EU 13 70562091 70562091 single base substitution A T intron_variant BRCA-EU 13 70562376 70562376 single base substitution C T intron_variant BRCA-EU 13 70563601 70563601 single base substitution G C intron_variant BRCA-EU 13 70564106 70564106 single base substitution C A intron_variant BRCA-EU 13 70564236 70564236 single base substitution A G intron_variant BRCA-EU 13 70564467 70564467 single base substitution G A intron_variant BRCA-EU 13 70565384 70565384 single base substitution A C intron_variant BRCA-EU 13 70565422 70565422 single base substitution G A intron_variant BRCA-EU 13 70565524 70565526 deletion of <=200bp GAC - intron_variant BRCA-EU 13 70570294 70570294 single base substitution G A intron_variant BRCA-EU 13 70571171 70571171 single base substitution G T intron_variant BRCA-EU 13 70571184 70571184 single base substitution C G intron_variant BRCA-EU 13 70571949 70571949 insertion of <=200bp - TA intron_variant BRCA-EU 13 70573167 70573167 deletion of <=200bp G - intron_variant BRCA-EU 13 70574068 70574068 single base substitution C G intron_variant BRCA-EU 13 70576695 70576695 single base substitution A T intron_variant BRCA-EU 13 70579067 70579067 single base substitution A G intron_variant BRCA-EU 13 70583691 70583691 single base substitution C T intron_variant BRCA-EU 13 70584503 70584503 single base substitution A T intron_variant BRCA-EU 13 70585127 70585127 single base substitution G C intron_variant BRCA-EU 13 70586260 70586260 single base substitution G A intron_variant BRCA-EU 13 70586444 70586444 single base substitution T C intron_variant BRCA-EU 13 70586984 70586984 single base substitution G A intron_variant BRCA-EU 13 70587729 70587729 insertion of <=200bp - T intron_variant BRCA-EU 13 70589138 70589138 single base substitution A T intron_variant BRCA-EU 13 70589551 70589551 single base substitution G T intron_variant BRCA-EU 13 70590247 70590247 single base substitution C T intron_variant BRCA-EU 13 70590820 70590820 single base substitution C A intron_variant BRCA-EU 13 70590869 70590869 single base substitution C A intron_variant BRCA-EU 13 70591602 70591602 single base substitution C G intron_variant BRCA-EU 13 70591962 70591962 single base substitution G A intron_variant BRCA-EU 13 70592225 70592225 single base substitution T C intron_variant BRCA-EU 13 70592230 70592230 single base substitution G C intron_variant BRCA-EU 13 70592425 70592425 single base substitution A T intron_variant BRCA-EU 13 70593275 70593275 single base substitution G T intron_variant BRCA-EU 13 70594601 70594601 single base substitution C T intron_variant BRCA-EU 13 70595033 70595033 single base substitution C T intron_variant BRCA-EU 13 70596184 70596184 single base substitution C T intron_variant BRCA-EU 13 70597006 70597006 single base substitution A C intron_variant BRCA-EU 13 70597592 70597592 single base substitution A T intron_variant BRCA-EU 13 70598936 70598936 single base substitution T C intron_variant BRCA-EU 13 70600199 70600199 single base substitution G A intron_variant BRCA-EU 13 70601203 70601203 single base substitution G C intron_variant BRCA-EU 13 70601251 70601251 single base substitution G C intron_variant BRCA-EU 13 70601343 70601343 single base substitution G A intron_variant BRCA-EU 13 70602488 70602488 single base substitution G T intron_variant BRCA-EU 13 70602872 70602872 single base substitution G C intron_variant BRCA-EU 13 70602875 70602875 single base substitution G A intron_variant BRCA-EU 13 70604432 70604432 single base substitution A G intron_variant BRCA-EU 13 70604877 70604877 single base substitution G C intron_variant BRCA-EU 13 70605061 70605061 single base substitution A C intron_variant BRCA-EU 13 70605661 70605661 single base substitution G T intron_variant BRCA-EU 13 70606027 70606027 single base substitution G C intron_variant BRCA-EU 13 70606422 70606422 single base substitution A G intron_variant BRCA-EU 13 70606528 70606528 single base substitution C G intron_variant BRCA-EU 13 70607017 70607017 deletion of <=200bp T - intron_variant BRCA-EU 13 70607062 70607062 deletion of <=200bp A - intron_variant BRCA-EU 13 70607933 70607933 single base substitution G C intron_variant BRCA-EU 13 70608023 70608023 single base substitution G A intron_variant BRCA-EU 13 70608507 70608507 single base substitution A T intron_variant BRCA-EU 13 70611338 70611338 single base substitution C G intron_variant BRCA-EU 13 70611738 70611738 deletion of <=200bp T - intron_variant BRCA-EU 13 70611799 70611799 single base substitution C T intron_variant BRCA-EU 13 70611930 70611951 deletion of <=200bp TTATTTTCTTCACTTCTTAAAG - intron_variant BRCA-EU 13 70612104 70612104 single base substitution A G intron_variant BRCA-EU 13 70612223 70612223 single base substitution A C intron_variant BRCA-EU 13 70612467 70612467 single base substitution C G intron_variant BRCA-EU 13 70612532 70612532 deletion of <=200bp T - intron_variant BRCA-EU 13 70613445 70613445 single base substitution G C intron_variant BRCA-EU 13 70618651 70618651 insertion of <=200bp - T intron_variant BRCA-EU 13 70620485 70620485 single base substitution T G intron_variant BRCA-EU 13 70621566 70621566 single base substitution T G intron_variant BRCA-EU 13 70622964 70622964 single base substitution C T intron_variant BRCA-EU 13 70624591 70624591 single base substitution A C intron_variant BRCA-EU 13 70624612 70624612 single base substitution A T intron_variant BRCA-EU 13 70624769 70624769 single base substitution A T intron_variant BRCA-EU 13 70624788 70624788 single base substitution T C intron_variant BRCA-EU 13 70624841 70624841 single base substitution G A intron_variant BRCA-EU 13 70626286 70626286 single base substitution T G intron_variant BRCA-EU 13 70626359 70626359 single base substitution C T intron_variant BRCA-EU 13 70629113 70629113 single base substitution A G intron_variant BRCA-EU 13 70629744 70629744 single base substitution A G intron_variant BRCA-EU 13 70630336 70630336 single base substitution C A intron_variant BRCA-EU 13 70630416 70630416 single base substitution G A intron_variant BRCA-EU 13 70630897 70630897 single base substitution C T intron_variant BRCA-EU 13 70631691 70631691 single base substitution G A intron_variant BRCA-EU 13 70632476 70632476 insertion of <=200bp - A intron_variant BRCA-EU 13 70633159 70633159 single base substitution G C intron_variant BRCA-EU 13 70637429 70637429 single base substitution C A intron_variant BRCA-EU 13 70637462 70637462 single base substitution C T intron_variant BRCA-EU 13 70637948 70637948 single base substitution G A intron_variant BRCA-EU 13 70638030 70638030 single base substitution A G intron_variant BRCA-EU 13 70638960 70638960 single base substitution C G intron_variant BRCA-EU 13 70639582 70639582 single base substitution G A intron_variant BRCA-EU 13 70640186 70640186 single base substitution A G intron_variant BRCA-EU 13 70640566 70640566 single base substitution A T intron_variant BRCA-EU 13 70641745 70641745 single base substitution G A intron_variant BRCA-EU 13 70643112 70643112 single base substitution C G intron_variant BRCA-EU 13 70643134 70643134 single base substitution G C intron_variant BRCA-EU 13 70643417 70643417 single base substitution A T intron_variant BRCA-EU 13 70644615 70644615 single base substitution A T intron_variant BRCA-EU 13 70645401 70645401 single base substitution G C intron_variant BRCA-EU 13 70646818 70646818 deletion of <=200bp A - intron_variant BRCA-EU 13 70648433 70648433 single base substitution C A intron_variant BRCA-EU 13 70649176 70649176 single base substitution G T intron_variant BRCA-EU 13 70649439 70649439 single base substitution G A intron_variant BRCA-EU 13 70650059 70650059 insertion of <=200bp - A intron_variant BRCA-EU 13 70651556 70651556 deletion of <=200bp A - intron_variant BRCA-EU 13 70652183 70652183 single base substitution T A intron_variant BRCA-EU 13 70655196 70655196 single base substitution A T intron_variant BRCA-EU 13 70655982 70655982 single base substitution G T intron_variant BRCA-EU 13 70656212 70656212 single base substitution C A intron_variant BRCA-EU 13 70657254 70657254 deletion of <=200bp A - intron_variant BRCA-EU 13 70657896 70657896 single base substitution C A intron_variant BRCA-EU 13 70658093 70658093 single base substitution A T intron_variant BRCA-EU 13 70659504 70659504 single base substitution G A intron_variant BRCA-EU 13 70660433 70660433 single base substitution G T intron_variant BRCA-EU 13 70660523 70660523 single base substitution T G intron_variant BRCA-EU 13 70660976 70660976 single base substitution C G intron_variant BRCA-EU 13 70662866 70662866 single base substitution T C intron_variant BRCA-EU 13 70664347 70664347 single base substitution C G intron_variant BRCA-EU 13 70665749 70665749 single base substitution C A intron_variant BRCA-EU 13 70666039 70666039 single base substitution C A intron_variant BRCA-EU 13 70666364 70666364 single base substitution A G intron_variant BRCA-EU 13 70666948 70666948 single base substitution T C intron_variant BRCA-EU 13 70667282 70667282 single base substitution G C intron_variant BRCA-EU 13 70667331 70667331 single base substitution G C intron_variant BRCA-EU 13 70668320 70668320 single base substitution G T intron_variant BRCA-EU 13 70670297 70670297 single base substitution T A intron_variant BRCA-EU 13 70670375 70670375 deletion of <=200bp T - intron_variant BRCA-EU 13 70670388 70670388 single base substitution G A intron_variant BRCA-EU 13 70670640 70670640 single base substitution T C intron_variant BRCA-EU 13 70671036 70671036 single base substitution G C intron_variant BRCA-EU 13 70672108 70672108 single base substitution C A intron_variant BRCA-EU 13 70672667 70672667 single base substitution G A intron_variant BRCA-EU 13 70673116 70673116 insertion of <=200bp - T intron_variant BRCA-EU 13 70673396 70673396 single base substitution T C intron_variant BRCA-EU 13 70674657 70674657 single base substitution G A intron_variant BRCA-EU 13 70675569 70675569 deletion of <=200bp T - intron_variant BRCA-EU 13 70676005 70676005 single base substitution C T intron_variant BRCA-EU 13 70677551 70677551 single base substitution G A intron_variant BRCA-EU 13 70678746 70678746 single base substitution G C intron_variant BRCA-EU 13 70678760 70678760 single base substitution G C intron_variant BRCA-EU 13 70678830 70678830 single base substitution G T intron_variant BRCA-EU 13 70679467 70679467 single base substitution C T intron_variant BRCA-EU 13 70681164 70681164 single base substitution A C intron_variant BRCA-EU 13 70681277 70681277 single base substitution G A intron_variant BRCA-EU 13 70681789 70681789 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 13 70681789 70681789 single base substitution G C missense_variant L15V 43C>G BRCA-EU 13 70682263 70682263 single base substitution C T 5_prime_UTR_variant BRCA-EU 13 70682263 70682263 single base substitution C T upstream_gene_variant BRCA-EU 13 70682526 70682526 single base substitution G A 5_prime_UTR_variant BRCA-EU 13 70682526 70682526 single base substitution G A upstream_gene_variant BRCA-EU 13 70683263 70683263 single base substitution G C upstream_gene_variant BRCA-EU 13 70683780 70683780 single base substitution A G upstream_gene_variant BRCA-EU 13 70685090 70685091 deletion of <=200bp TT - upstream_gene_variant BRCA-EU 13 70685586 70685586 single base substitution T C upstream_gene_variant BRCA-EU 13 70686286 70686286 single base substitution C G upstream_gene_variant BRCA-EU 13 70686425 70686425 single base substitution G A upstream_gene_variant BRCA-EU 13 70687044 70687044 single base substitution T C upstream_gene_variant BRCA-FR 13 70274762 70274762 single base substitution A G 3_prime_UTR_variant BRCA-FR 13 70274762 70274762 single base substitution A G downstream_gene_variant BRCA-FR 13 70276111 70276111 single base substitution G C intron_variant BRCA-FR 13 70280044 70280044 single base substitution T A intron_variant BRCA-FR 13 70288377 70288377 single base substitution G A intron_variant BRCA-FR 13 70290591 70290591 single base substitution G A intron_variant BRCA-FR 13 70294710 70294710 single base substitution G A intron_variant BRCA-FR 13 70303813 70303813 single base substitution C G intron_variant BRCA-FR 13 70306584 70306584 single base substitution G T intron_variant BRCA-FR 13 70311893 70311893 single base substitution G A intron_variant BRCA-FR 13 70312373 70312373 single base substitution G A intron_variant BRCA-FR 13 70312600 70312600 single base substitution T C intron_variant BRCA-FR 13 70316132 70316132 single base substitution A G intron_variant BRCA-FR 13 70318530 70318530 single base substitution G T intron_variant BRCA-FR 13 70321730 70321730 single base substitution C T intron_variant BRCA-FR 13 70323822 70323822 single base substitution G C intron_variant BRCA-FR 13 70328462 70328462 single base substitution A G intron_variant BRCA-FR 13 70331580 70331580 single base substitution T G intron_variant BRCA-FR 13 70333460 70333460 single base substitution G A intron_variant BRCA-FR 13 70333627 70333627 single base substitution C G intron_variant BRCA-FR 13 70336250 70336250 single base substitution C T intron_variant BRCA-FR 13 70337032 70337032 single base substitution G A intron_variant BRCA-FR 13 70349258 70349258 single base substitution C A intron_variant BRCA-FR 13 70373126 70373126 single base substitution C A intron_variant BRCA-FR 13 70373445 70373445 single base substitution C T intron_variant BRCA-FR 13 70380416 70380416 single base substitution C T intron_variant BRCA-FR 13 70384381 70384381 single base substitution C G intron_variant BRCA-FR 13 70386046 70386046 single base substitution C G intron_variant BRCA-FR 13 70387350 70387350 single base substitution G A intron_variant BRCA-FR 13 70396090 70396090 single base substitution G C intron_variant BRCA-FR 13 70401306 70401306 single base substitution A G intron_variant BRCA-FR 13 70405880 70405880 single base substitution C T intron_variant BRCA-FR 13 70409142 70409142 single base substitution G A intron_variant BRCA-FR 13 70413478 70413478 single base substitution A C intron_variant BRCA-FR 13 70419115 70419115 single base substitution G A intron_variant BRCA-FR 13 70419588 70419588 single base substitution A G intron_variant BRCA-FR 13 70429068 70429068 single base substitution G A intron_variant BRCA-FR 13 70449775 70449775 single base substitution C A intron_variant BRCA-FR 13 70457254 70457254 single base substitution T C intron_variant BRCA-FR 13 70460386 70460386 single base substitution A T intron_variant BRCA-FR 13 70471397 70471397 single base substitution G T intron_variant BRCA-FR 13 70475706 70475706 single base substitution G C intron_variant BRCA-FR 13 70482384 70482384 single base substitution G C intron_variant BRCA-FR 13 70488681 70488681 single base substitution C A intron_variant BRCA-FR 13 70493102 70493102 single base substitution T C intron_variant BRCA-FR 13 70497717 70497717 single base substitution G C intron_variant BRCA-FR 13 70498565 70498565 single base substitution C T intron_variant BRCA-FR 13 70515830 70515830 single base substitution C T intron_variant BRCA-FR 13 70525205 70525205 single base substitution A G intron_variant BRCA-FR 13 70525243 70525243 single base substitution G C intron_variant BRCA-FR 13 70539419 70539419 single base substitution C T intron_variant BRCA-FR 13 70544937 70544937 single base substitution G A intron_variant BRCA-FR 13 70547062 70547062 single base substitution T A intron_variant BRCA-FR 13 70554696 70554696 single base substitution T G intron_variant BRCA-FR 13 70560769 70560769 single base substitution G T intron_variant BRCA-FR 13 70561310 70561310 single base substitution C G intron_variant BRCA-FR 13 70563601 70563601 single base substitution G C intron_variant BRCA-FR 13 70569556 70569556 single base substitution G T intron_variant BRCA-FR 13 70570294 70570294 single base substitution G A intron_variant BRCA-FR 13 70584503 70584503 single base substitution A T intron_variant BRCA-FR 13 70585127 70585127 single base substitution G C intron_variant BRCA-FR 13 70597006 70597006 single base substitution A C intron_variant BRCA-FR 13 70597495 70597495 single base substitution G A intron_variant BRCA-FR 13 70601203 70601203 single base substitution G C intron_variant BRCA-FR 13 70601251 70601251 single base substitution G C intron_variant BRCA-FR 13 70605061 70605061 single base substitution A C intron_variant BRCA-FR 13 70606027 70606027 single base substitution G C intron_variant BRCA-FR 13 70606422 70606422 single base substitution A G intron_variant BRCA-FR 13 70608023 70608023 single base substitution G A intron_variant BRCA-FR 13 70611338 70611338 single base substitution C G intron_variant BRCA-FR 13 70612104 70612104 single base substitution A G intron_variant BRCA-FR 13 70624591 70624591 single base substitution A C intron_variant BRCA-FR 13 70628320 70628320 single base substitution G C intron_variant BRCA-FR 13 70630416 70630416 single base substitution G A intron_variant BRCA-FR 13 70640186 70640186 single base substitution A G intron_variant BRCA-FR 13 70642024 70642024 single base substitution G A intron_variant BRCA-FR 13 70649439 70649439 single base substitution G A intron_variant BRCA-FR 13 70664619 70664619 single base substitution C A intron_variant BRCA-FR 13 70670297 70670297 single base substitution T A intron_variant BRCA-FR 13 70670388 70670388 single base substitution G A intron_variant BRCA-FR 13 70670640 70670640 single base substitution T C intron_variant BRCA-FR 13 70671266 70671266 single base substitution C T intron_variant BRCA-FR 13 70679467 70679467 single base substitution C T intron_variant BRCA-FR 13 70681789 70681789 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 13 70681789 70681789 single base substitution G C missense_variant L15V 43C>G BRCA-FR 13 70686425 70686425 single base substitution G A upstream_gene_variant BRCA-UK 13 70285614 70285614 single base substitution A C intron_variant BRCA-UK 13 70286667 70286667 single base substitution C G intron_variant BRCA-UK 13 70315886 70315886 single base substitution C T intron_variant BRCA-UK 13 70325560 70325560 single base substitution A G intron_variant BRCA-UK 13 70363416 70363416 single base substitution T G intron_variant BRCA-UK 13 70377588 70377588 single base substitution A C intron_variant BRCA-UK 13 70379848 70379848 single base substitution C T intron_variant BRCA-UK 13 70406168 70406168 single base substitution A C intron_variant BRCA-UK 13 70412309 70412309 single base substitution C T intron_variant BRCA-UK 13 70428677 70428677 single base substitution G C intron_variant BRCA-UK 13 70456239 70456239 single base substitution G A intron_variant BRCA-UK 13 70458939 70458939 single base substitution G T intron_variant BRCA-UK 13 70462604 70462604 single base substitution G C intron_variant BRCA-UK 13 70474877 70474877 single base substitution C T intron_variant BRCA-UK 13 70478917 70478917 single base substitution G T intron_variant BRCA-UK 13 70495427 70495427 single base substitution T G intron_variant BRCA-UK 13 70500077 70500077 single base substitution C G intron_variant BRCA-UK 13 70521890 70521890 single base substitution A T intron_variant BRCA-UK 13 70526347 70526347 single base substitution A G intron_variant BRCA-UK 13 70541146 70541146 single base substitution A C intron_variant BRCA-UK 13 70546180 70546180 single base substitution G C intron_variant BRCA-UK 13 70548495 70548495 single base substitution C T intron_variant BRCA-UK 13 70563634 70563634 single base substitution C T intron_variant BRCA-UK 13 70611799 70611799 single base substitution C T intron_variant BRCA-UK 13 70635077 70635077 single base substitution G C intron_variant BRCA-UK 13 70637948 70637948 single base substitution G A intron_variant BRCA-UK 13 70649353 70649353 single base substitution C G intron_variant BRCA-UK 13 70683468 70683468 single base substitution G A upstream_gene_variant BRCA-US 13 70281842 70281842 single base substitution C G missense_variant R508T 1523G>C BRCA-US 13 70281842 70281842 single base substitution C G missense_variant R701T 2102G>C BRCA-US 13 70281926 70281926 insertion of <=200bp - C frameshift_variant Y480*? BRCA-US 13 70281926 70281926 insertion of <=200bp - C frameshift_variant Y673*? BRCA-US 13 70281929 70281929 single base substitution C T splice_acceptor_variant BRCA-US 13 70314611 70314611 single base substitution A C missense_variant W380G 1138T>G BRCA-US 13 70314611 70314611 single base substitution A C missense_variant W573G 1717T>G BRCA-US 13 70456546 70456546 single base substitution C T missense_variant D173N 517G>A BRCA-US 13 70456546 70456546 single base substitution C T missense_variant D366N 1096G>A BRCA-US 13 70456605 70456605 single base substitution C T missense_variant R153K 458G>A BRCA-US 13 70456605 70456605 single base substitution C T missense_variant R346K 1037G>A BRCA-US 13 70514225 70514225 single base substitution C T missense_variant A128T 382G>A BRCA-US 13 70514225 70514225 single base substitution C T missense_variant A321T 961G>A BRCA-US 13 70535549 70535549 single base substitution A G synonymous_variant Y236Y 708T>C BRCA-US 13 70535549 70535549 single base substitution A G synonymous_variant Y43Y 129T>C BRCA-US 13 70549770 70549770 single base substitution C T intron_variant BRCA-US 13 70549770 70549770 single base substitution C T missense_variant R221Q 662G>A BRCA-US 13 70681654 70681654 single base substitution G C 5_prime_UTR_variant BRCA-US 13 70681654 70681654 single base substitution G C missense_variant Q60E 178C>G BTCA-JP 13 70293474 70293474 single base substitution G A intron_variant BTCA-JP 13 70549771 70549771 single base substitution G A intron_variant BTCA-JP 13 70549771 70549771 single base substitution G A stop_gained R221* 661C>T BTCA-JP 13 70681873 70681873 single base substitution A G 5_prime_UTR_variant BTCA-JP 13 70681873 70681873 single base substitution A G upstream_gene_variant CESC-US 13 70281894 70281894 single base substitution C A missense_variant A491S 1471G>T CESC-US 13 70281894 70281894 single base substitution C A missense_variant A684S 2050G>T CESC-US 13 70371050 70371050 single base substitution T A missense_variant I294F 880A>T CESC-US 13 70371050 70371050 single base substitution T A missense_variant I487F 1459A>T CESC-US 13 70514243 70514243 single base substitution A C missense_variant L122V 364T>G CESC-US 13 70514243 70514243 single base substitution A C missense_variant L315V 943T>G CESC-US 13 70535470 70535470 single base substitution G A missense_variant L263F 787C>T CESC-US 13 70535470 70535470 single base substitution G A missense_variant L70F 208C>T CESC-US 13 70681587 70681587 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant CESC-US 13 70681587 70681587 single base substitution G A missense_variant P82L 245C>T CESC-US 13 70681766 70681766 single base substitution G A 5_prime_UTR_variant CESC-US 13 70681766 70681766 single base substitution G A synonymous_variant F22F 66C>T CESC-US 13 70681805 70681805 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant CESC-US 13 70681805 70681805 single base substitution G A synonymous_variant F9F 27C>T CLLE-ES 13 70270583 70270583 single base substitution T C downstream_gene_variant CLLE-ES 13 70272502 70272502 single base substitution A C downstream_gene_variant CLLE-ES 13 70277594 70277594 single base substitution T C intron_variant CLLE-ES 13 70280460 70280461 deletion of <=200bp AG - intron_variant CLLE-ES 13 70284674 70284674 single base substitution A G intron_variant CLLE-ES 13 70285940 70285940 single base substitution T C intron_variant CLLE-ES 13 70288139 70288139 single base substitution A G intron_variant CLLE-ES 13 70294465 70294465 single base substitution T A intron_variant CLLE-ES 13 70302730 70302730 single base substitution T A intron_variant CLLE-ES 13 70305249 70305249 single base substitution A C intron_variant CLLE-ES 13 70305639 70305639 single base substitution G A intron_variant CLLE-ES 13 70308211 70308211 single base substitution C A intron_variant CLLE-ES 13 70311478 70311478 single base substitution G T intron_variant CLLE-ES 13 70312490 70312490 single base substitution C T intron_variant CLLE-ES 13 70312696 70312696 single base substitution T G intron_variant CLLE-ES 13 70319515 70319515 single base substitution T A intron_variant CLLE-ES 13 70324673 70324673 single base substitution T G intron_variant CLLE-ES 13 70327834 70327834 single base substitution T G intron_variant CLLE-ES 13 70335446 70335446 single base substitution T C intron_variant CLLE-ES 13 70337972 70337972 single base substitution T C intron_variant CLLE-ES 13 70349752 70349752 single base substitution C A intron_variant CLLE-ES 13 70350040 70350040 single base substitution T G intron_variant CLLE-ES 13 70354849 70354849 single base substitution T C intron_variant CLLE-ES 13 70363511 70363511 single base substitution T C intron_variant CLLE-ES 13 70366048 70366048 single base substitution A T intron_variant CLLE-ES 13 70370340 70370340 single base substitution G A intron_variant CLLE-ES 13 70370340 70370340 single base substitution G C intron_variant CLLE-ES 13 70372151 70372151 single base substitution G C intron_variant CLLE-ES 13 70374638 70374638 single base substitution C T intron_variant CLLE-ES 13 70375222 70375222 single base substitution A C intron_variant CLLE-ES 13 70375727 70375727 single base substitution G A intron_variant CLLE-ES 13 70376356 70376356 single base substitution C T intron_variant CLLE-ES 13 70378163 70378163 single base substitution T G intron_variant CLLE-ES 13 70378572 70378572 single base substitution A T intron_variant CLLE-ES 13 70378811 70378811 single base substitution G T intron_variant CLLE-ES 13 70390888 70390888 single base substitution T A intron_variant CLLE-ES 13 70394827 70394827 single base substitution A C intron_variant CLLE-ES 13 70397594 70397594 single base substitution A C intron_variant CLLE-ES 13 70401692 70401692 single base substitution T G intron_variant CLLE-ES 13 70402294 70402294 single base substitution G T intron_variant CLLE-ES 13 70403414 70403414 single base substitution C T intron_variant CLLE-ES 13 70404080 70404080 single base substitution G A intron_variant CLLE-ES 13 70404352 70404352 single base substitution G T intron_variant CLLE-ES 13 70418209 70418209 single base substitution A T intron_variant CLLE-ES 13 70418435 70418435 single base substitution A G intron_variant CLLE-ES 13 70419722 70419722 single base substitution C A intron_variant CLLE-ES 13 70419856 70419857 deletion of <=200bp AT - intron_variant CLLE-ES 13 70420747 70420747 single base substitution A T intron_variant CLLE-ES 13 70422046 70422046 single base substitution A G intron_variant CLLE-ES 13 70423138 70423138 single base substitution A G intron_variant CLLE-ES 13 70423830 70423830 single base substitution T G intron_variant CLLE-ES 13 70424665 70424665 single base substitution C T intron_variant CLLE-ES 13 70428328 70428328 single base substitution G T intron_variant CLLE-ES 13 70429090 70429090 single base substitution A G intron_variant CLLE-ES 13 70429382 70429382 single base substitution C G intron_variant CLLE-ES 13 70434244 70434244 single base substitution A C intron_variant CLLE-ES 13 70436834 70436834 single base substitution A T intron_variant CLLE-ES 13 70442025 70442025 single base substitution C T intron_variant CLLE-ES 13 70442286 70442286 single base substitution T A intron_variant CLLE-ES 13 70444953 70444953 single base substitution C T intron_variant CLLE-ES 13 70446584 70446584 single base substitution C G intron_variant CLLE-ES 13 70454538 70454538 single base substitution T G intron_variant CLLE-ES 13 70455611 70455611 single base substitution A T intron_variant CLLE-ES 13 70459536 70459536 single base substitution C T intron_variant CLLE-ES 13 70461158 70461158 single base substitution A G intron_variant CLLE-ES 13 70462352 70462352 single base substitution A G intron_variant CLLE-ES 13 70463684 70463684 single base substitution T C intron_variant CLLE-ES 13 70465642 70465642 single base substitution A C intron_variant CLLE-ES 13 70467834 70467834 single base substitution T G intron_variant CLLE-ES 13 70468276 70468276 single base substitution C A intron_variant CLLE-ES 13 70472855 70472855 single base substitution C A intron_variant CLLE-ES 13 70472957 70472957 single base substitution G C intron_variant CLLE-ES 13 70480411 70480411 single base substitution T C intron_variant CLLE-ES 13 70481327 70481327 single base substitution T G intron_variant CLLE-ES 13 70487672 70487672 single base substitution C T intron_variant CLLE-ES 13 70494546 70494546 single base substitution T C intron_variant CLLE-ES 13 70496030 70496030 single base substitution T A intron_variant CLLE-ES 13 70503780 70503780 single base substitution C T intron_variant CLLE-ES 13 70509055 70509055 single base substitution A C intron_variant CLLE-ES 13 70510672 70510672 single base substitution G T intron_variant CLLE-ES 13 70511329 70511329 single base substitution T C intron_variant CLLE-ES 13 70511813 70511813 single base substitution T C intron_variant CLLE-ES 13 70517044 70517044 single base substitution A G intron_variant CLLE-ES 13 70517538 70517538 single base substitution G A intron_variant CLLE-ES 13 70523368 70523368 single base substitution T G intron_variant CLLE-ES 13 70523789 70523789 single base substitution A C intron_variant CLLE-ES 13 70531154 70531154 single base substitution T C intron_variant CLLE-ES 13 70532388 70532388 single base substitution T C intron_variant CLLE-ES 13 70535012 70535012 single base substitution A C intron_variant CLLE-ES 13 70536442 70536442 single base substitution T C intron_variant CLLE-ES 13 70545661 70545661 single base substitution A G intron_variant CLLE-ES 13 70546221 70546221 single base substitution G A intron_variant CLLE-ES 13 70548365 70548365 single base substitution G A intron_variant CLLE-ES 13 70548735 70548735 single base substitution A G intron_variant CLLE-ES 13 70552713 70552713 single base substitution G T intron_variant CLLE-ES 13 70556195 70556195 single base substitution T G intron_variant CLLE-ES 13 70557970 70557970 single base substitution A C intron_variant CLLE-ES 13 70560357 70560357 single base substitution A T intron_variant CLLE-ES 13 70560892 70560892 single base substitution G C intron_variant CLLE-ES 13 70564602 70564602 single base substitution A T intron_variant CLLE-ES 13 70568543 70568543 single base substitution A C intron_variant CLLE-ES 13 70569803 70569803 single base substitution A T intron_variant CLLE-ES 13 70575395 70575395 single base substitution A C intron_variant CLLE-ES 13 70577920 70577920 single base substitution G T intron_variant CLLE-ES 13 70578235 70578235 single base substitution G C intron_variant CLLE-ES 13 70582141 70582141 single base substitution A G intron_variant CLLE-ES 13 70585023 70585023 single base substitution T G intron_variant CLLE-ES 13 70585844 70585844 single base substitution T G intron_variant CLLE-ES 13 70586776 70586776 single base substitution C A intron_variant CLLE-ES 13 70587991 70587991 single base substitution A G intron_variant CLLE-ES 13 70588610 70588610 single base substitution C A intron_variant CLLE-ES 13 70597141 70597141 single base substitution C A intron_variant CLLE-ES 13 70597527 70597527 single base substitution T C intron_variant CLLE-ES 13 70598488 70598488 single base substitution G T intron_variant CLLE-ES 13 70600402 70600402 single base substitution T A intron_variant CLLE-ES 13 70604611 70604611 single base substitution G T intron_variant CLLE-ES 13 70608940 70608940 single base substitution A C intron_variant CLLE-ES 13 70613635 70613635 single base substitution T G intron_variant CLLE-ES 13 70614063 70614063 single base substitution A T intron_variant CLLE-ES 13 70614593 70614593 single base substitution A G intron_variant CLLE-ES 13 70616173 70616173 single base substitution T A intron_variant CLLE-ES 13 70616858 70616858 single base substitution T C intron_variant CLLE-ES 13 70617048 70617048 single base substitution A T intron_variant CLLE-ES 13 70617402 70617402 single base substitution T G intron_variant CLLE-ES 13 70618306 70618306 single base substitution A G intron_variant CLLE-ES 13 70620150 70620150 single base substitution T G intron_variant CLLE-ES 13 70620159 70620159 single base substitution T G intron_variant CLLE-ES 13 70620174 70620174 single base substitution C T intron_variant CLLE-ES 13 70622634 70622634 single base substitution C T intron_variant CLLE-ES 13 70624500 70624500 single base substitution G T intron_variant CLLE-ES 13 70626143 70626143 single base substitution C T intron_variant CLLE-ES 13 70626978 70626978 single base substitution A G intron_variant CLLE-ES 13 70627215 70627215 single base substitution T G intron_variant CLLE-ES 13 70628807 70628807 single base substitution A T intron_variant CLLE-ES 13 70628916 70628916 single base substitution G T intron_variant CLLE-ES 13 70629508 70629508 single base substitution T G intron_variant CLLE-ES 13 70630653 70630653 single base substitution C T intron_variant CLLE-ES 13 70631163 70631163 single base substitution G A intron_variant CLLE-ES 13 70631967 70631967 single base substitution G A intron_variant CLLE-ES 13 70632849 70632849 single base substitution A T intron_variant CLLE-ES 13 70640598 70640598 single base substitution A G intron_variant CLLE-ES 13 70644055 70644055 single base substitution T A intron_variant CLLE-ES 13 70646119 70646119 single base substitution C T intron_variant CLLE-ES 13 70649811 70649811 single base substitution A C intron_variant CLLE-ES 13 70654676 70654676 single base substitution T A intron_variant CLLE-ES 13 70661891 70661891 single base substitution C T intron_variant CLLE-ES 13 70668685 70668685 single base substitution G A intron_variant CLLE-ES 13 70671797 70671797 single base substitution A T intron_variant CLLE-ES 13 70682675 70682675 single base substitution A G upstream_gene_variant CLLE-ES 13 70683066 70683066 single base substitution G A upstream_gene_variant CLLE-ES 13 70686860 70686860 single base substitution T G upstream_gene_variant COAD-US 13 70293716 70293716 deletion of <=200bp A - splice_region_variant COAD-US 13 70370883 70370883 single base substitution G A synonymous_variant H349H 1047C>T COAD-US 13 70370883 70370883 single base substitution G A synonymous_variant H542H 1626C>T COAD-US 13 70371075 70371075 single base substitution T C synonymous_variant K285K 855A>G COAD-US 13 70371075 70371075 single base substitution T C synonymous_variant K478K 1434A>G COAD-US 13 70413148 70413148 single base substitution G A synonymous_variant V265V 795C>T COAD-US 13 70413148 70413148 single base substitution G A synonymous_variant V458V 1374C>T COAD-US 13 70456474 70456474 single base substitution T G synonymous_variant R197R 589A>C COAD-US 13 70456474 70456474 single base substitution T G synonymous_variant R390R 1168A>C COAD-US 13 70456485 70456485 single base substitution T C missense_variant D193G 578A>G COAD-US 13 70456485 70456485 single base substitution T C missense_variant D386G 1157A>G COAD-US 13 70535568 70535568 single base substitution A G missense_variant L230P 689T>C COAD-US 13 70535568 70535568 single base substitution A G missense_variant L37P 110T>C COAD-US 13 70549857 70549857 single base substitution A G intron_variant COAD-US 13 70549857 70549857 single base substitution A G missense_variant V192A 575T>C COAD-US 13 70681805 70681805 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 13 70681805 70681805 single base substitution G A synonymous_variant F9F 27C>T COCA-CN 13 70281814 70281814 single base substitution T C synonymous_variant G517G 1551A>G COCA-CN 13 70281814 70281814 single base substitution T C synonymous_variant G710G 2130A>G COCA-CN 13 70281945 70281945 single base substitution A C intron_variant COCA-CN 13 70293669 70293669 single base substitution G T stop_gained S423* 1268C>A COCA-CN 13 70293669 70293669 single base substitution G T stop_gained S616* 1847C>A COCA-CN 13 70371134 70371134 single base substitution A G intron_variant COCA-CN 13 70371281 70371281 single base substitution A T intron_variant COCA-CN 13 70413173 70413173 single base substitution C A missense_variant R257I 770G>T COCA-CN 13 70413173 70413173 single base substitution C A missense_variant R450I 1349G>T COCA-CN 13 70424168 70424168 single base substitution G A intron_variant COCA-CN 13 70437149 70437149 single base substitution C A intron_variant COCA-CN 13 70477959 70477959 single base substitution A G intron_variant COCA-CN 13 70493253 70493253 single base substitution A G intron_variant COCA-CN 13 70514208 70514208 single base substitution G A synonymous_variant C133C 399C>T COCA-CN 13 70514208 70514208 single base substitution G A synonymous_variant C326C 978C>T COCA-CN 13 70514234 70514234 single base substitution G A stop_gained R125* 373C>T COCA-CN 13 70514234 70514234 single base substitution G A stop_gained R318* 952C>T COCA-CN 13 70519253 70519253 single base substitution G A intron_variant COCA-CN 13 70535462 70535462 single base substitution G T missense_variant D265E 795C>A COCA-CN 13 70535462 70535462 single base substitution G T missense_variant D72E 216C>A COCA-CN 13 70535711 70535711 single base substitution G A intron_variant COCA-CN 13 70549413 70549413 single base substitution G A intron_variant COCA-CN 13 70549579 70549579 single base substitution G T intron_variant COCA-CN 13 70549646 70549646 single base substitution T C intron_variant COCA-CN 13 70549779 70549779 single base substitution A G intron_variant COCA-CN 13 70549779 70549779 single base substitution A G missense_variant V218A 653T>C COCA-CN 13 70549829 70549829 single base substitution C A intron_variant COCA-CN 13 70549829 70549829 single base substitution C A missense_variant K201N 603G>T COCA-CN 13 70575750 70575750 single base substitution C T intron_variant COCA-CN 13 70598770 70598770 single base substitution C T intron_variant COCA-CN 13 70598778 70598778 single base substitution C T intron_variant COCA-CN 13 70605256 70605256 single base substitution A G intron_variant COCA-CN 13 70605257 70605257 single base substitution C T intron_variant COCA-CN 13 70621061 70621061 single base substitution T A intron_variant COCA-CN 13 70681596 70681596 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 13 70681596 70681596 single base substitution G A missense_variant S79L 236C>T EOPC-DE 13 70320512 70320512 single base substitution T C intron_variant EOPC-DE 13 70341588 70341588 single base substitution G T intron_variant EOPC-DE 13 70374786 70374786 single base substitution T C intron_variant EOPC-DE 13 70399059 70399059 single base substitution T A intron_variant EOPC-DE 13 70492925 70492925 single base substitution C A intron_variant EOPC-DE 13 70533129 70533129 single base substitution G T intron_variant EOPC-DE 13 70547688 70547688 single base substitution G A intron_variant EOPC-DE 13 70604141 70604141 single base substitution A G intron_variant EOPC-DE 13 70663745 70663745 single base substitution T A intron_variant ESAD-UK 13 70269783 70269783 single base substitution G T downstream_gene_variant ESAD-UK 13 70270250 70270250 single base substitution A G downstream_gene_variant ESAD-UK 13 70270922 70270922 single base substitution T C downstream_gene_variant ESAD-UK 13 70271580 70271580 single base substitution C G downstream_gene_variant ESAD-UK 13 70273347 70273347 single base substitution A C downstream_gene_variant ESAD-UK 13 70273414 70273414 single base substitution G T downstream_gene_variant ESAD-UK 13 70274244 70274244 single base substitution T G downstream_gene_variant ESAD-UK 13 70274936 70274936 single base substitution T G 3_prime_UTR_variant ESAD-UK 13 70274936 70274936 single base substitution T G downstream_gene_variant ESAD-UK 13 70275348 70275348 single base substitution A C 3_prime_UTR_variant ESAD-UK 13 70275348 70275348 single base substitution A C downstream_gene_variant ESAD-UK 13 70275376 70275376 single base substitution A T 3_prime_UTR_variant ESAD-UK 13 70275376 70275376 single base substitution A T downstream_gene_variant ESAD-UK 13 70275422 70275422 single base substitution T C 3_prime_UTR_variant ESAD-UK 13 70275422 70275422 single base substitution T C downstream_gene_variant ESAD-UK 13 70275470 70275470 single base substitution T G 3_prime_UTR_variant ESAD-UK 13 70275470 70275470 single base substitution T G downstream_gene_variant ESAD-UK 13 70275904 70275904 single base substitution A C intron_variant ESAD-UK 13 70276018 70276018 single base substitution A C intron_variant ESAD-UK 13 70276171 70276171 single base substitution A C intron_variant ESAD-UK 13 70276435 70276435 single base substitution T C intron_variant ESAD-UK 13 70276527 70276527 insertion of <=200bp - TT intron_variant ESAD-UK 13 70276960 70276960 single base substitution G A intron_variant ESAD-UK 13 70277088 70277088 single base substitution G A intron_variant ESAD-UK 13 70277216 70277216 single base substitution A G intron_variant ESAD-UK 13 70277709 70277709 single base substitution A C intron_variant ESAD-UK 13 70277761 70277761 single base substitution T C intron_variant ESAD-UK 13 70277974 70277974 single base substitution G T intron_variant ESAD-UK 13 70277989 70277989 single base substitution C T intron_variant ESAD-UK 13 70278047 70278047 single base substitution G A intron_variant ESAD-UK 13 70279266 70279266 single base substitution G T intron_variant ESAD-UK 13 70279627 70279627 single base substitution C T intron_variant ESAD-UK 13 70280649 70280649 single base substitution A C intron_variant ESAD-UK 13 70281127 70281127 single base substitution A C intron_variant ESAD-UK 13 70281322 70281322 single base substitution A C intron_variant ESAD-UK 13 70281796 70281796 single base substitution A G synonymous_variant T523T 1569T>C ESAD-UK 13 70281796 70281796 single base substitution A G synonymous_variant T716T 2148T>C ESAD-UK 13 70282442 70282442 insertion of <=200bp - T intron_variant ESAD-UK 13 70282625 70282625 single base substitution A G intron_variant ESAD-UK 13 70282740 70282740 single base substitution A C intron_variant ESAD-UK 13 70282826 70282826 single base substitution G T intron_variant ESAD-UK 13 70282919 70282919 single base substitution G C intron_variant ESAD-UK 13 70283386 70283386 single base substitution A T intron_variant ESAD-UK 13 70283454 70283454 single base substitution T G intron_variant ESAD-UK 13 70283595 70283595 single base substitution A C intron_variant ESAD-UK 13 70283693 70283693 single base substitution T C intron_variant ESAD-UK 13 70283937 70283937 single base substitution C T intron_variant ESAD-UK 13 70284193 70284193 insertion of <=200bp - G intron_variant ESAD-UK 13 70285033 70285033 single base substitution T G intron_variant ESAD-UK 13 70286760 70286760 single base substitution T G intron_variant ESAD-UK 13 70286904 70286904 single base substitution T G intron_variant ESAD-UK 13 70287367 70287367 single base substitution T C intron_variant ESAD-UK 13 70287383 70287383 single base substitution T G intron_variant ESAD-UK 13 70288252 70288252 single base substitution G A intron_variant ESAD-UK 13 70288305 70288305 deletion of <=200bp A - intron_variant ESAD-UK 13 70289309 70289309 single base substitution A G intron_variant ESAD-UK 13 70289660 70289660 single base substitution T A intron_variant ESAD-UK 13 70290007 70290007 single base substitution A T intron_variant ESAD-UK 13 70290190 70290190 single base substitution A C intron_variant ESAD-UK 13 70290272 70290272 single base substitution C T intron_variant ESAD-UK 13 70290365 70290365 single base substitution C G intron_variant ESAD-UK 13 70290514 70290514 single base substitution C T intron_variant ESAD-UK 13 70290537 70290537 single base substitution G A intron_variant ESAD-UK 13 70290558 70290558 single base substitution A C intron_variant ESAD-UK 13 70290566 70290566 single base substitution A C intron_variant ESAD-UK 13 70290682 70290682 single base substitution G T intron_variant ESAD-UK 13 70290685 70290685 single base substitution G A intron_variant ESAD-UK 13 70291062 70291062 single base substitution T C intron_variant ESAD-UK 13 70291320 70291320 single base substitution T A intron_variant ESAD-UK 13 70291749 70291749 single base substitution T G intron_variant ESAD-UK 13 70291788 70291788 single base substitution G A intron_variant ESAD-UK 13 70291861 70291861 single base substitution A C intron_variant ESAD-UK 13 70292312 70292312 single base substitution A C intron_variant ESAD-UK 13 70292314 70292314 single base substitution T C intron_variant ESAD-UK 13 70292644 70292644 deletion of <=200bp G - intron_variant ESAD-UK 13 70293090 70293090 single base substitution A C intron_variant ESAD-UK 13 70293705 70293705 single base substitution G C stop_gained S411* 1232C>G ESAD-UK 13 70293705 70293705 single base substitution G C stop_gained S604* 1811C>G ESAD-UK 13 70294047 70294047 single base substitution A C intron_variant ESAD-UK 13 70294180 70294180 single base substitution A G intron_variant ESAD-UK 13 70296391 70296391 single base substitution T A intron_variant ESAD-UK 13 70296605 70296605 single base substitution T C intron_variant ESAD-UK 13 70296779 70296779 single base substitution A T intron_variant ESAD-UK 13 70298107 70298107 single base substitution C A intron_variant ESAD-UK 13 70298512 70298512 single base substitution A G intron_variant ESAD-UK 13 70298662 70298662 single base substitution A G intron_variant ESAD-UK 13 70299083 70299083 single base substitution T C intron_variant ESAD-UK 13 70299141 70299141 single base substitution G C intron_variant ESAD-UK 13 70299153 70299153 single base substitution T A intron_variant ESAD-UK 13 70299882 70299882 single base substitution C T intron_variant ESAD-UK 13 70300794 70300794 single base substitution A T intron_variant ESAD-UK 13 70300917 70300917 single base substitution G A intron_variant ESAD-UK 13 70301440 70301440 single base substitution G C intron_variant ESAD-UK 13 70302041 70302041 single base substitution C T intron_variant ESAD-UK 13 70302822 70302822 single base substitution C T intron_variant ESAD-UK 13 70303552 70303552 deletion of <=200bp A - intron_variant ESAD-UK 13 70303556 70303556 single base substitution C A intron_variant ESAD-UK 13 70303650 70303650 deletion of <=200bp A - intron_variant ESAD-UK 13 70303875 70303875 single base substitution A C intron_variant ESAD-UK 13 70303915 70303915 single base substitution A C intron_variant ESAD-UK 13 70304079 70304079 single base substitution T G intron_variant ESAD-UK 13 70304187 70304187 single base substitution G A intron_variant ESAD-UK 13 70304222 70304222 single base substitution T A intron_variant ESAD-UK 13 70304484 70304484 single base substitution T G intron_variant ESAD-UK 13 70304797 70304797 single base substitution T A intron_variant ESAD-UK 13 70304884 70304884 single base substitution A T intron_variant ESAD-UK 13 70306140 70306140 single base substitution T G intron_variant ESAD-UK 13 70306227 70306227 single base substitution A C intron_variant ESAD-UK 13 70306439 70306439 single base substitution A C intron_variant ESAD-UK 13 70307075 70307075 single base substitution T C intron_variant ESAD-UK 13 70307133 70307133 single base substitution T G intron_variant ESAD-UK 13 70307332 70307332 single base substitution A C intron_variant ESAD-UK 13 70307367 70307367 single base substitution A C intron_variant ESAD-UK 13 70307661 70307661 single base substitution A T intron_variant ESAD-UK 13 70307929 70307929 single base substitution A G intron_variant ESAD-UK 13 70307946 70307946 single base substitution A C intron_variant ESAD-UK 13 70308049 70308049 single base substitution A T intron_variant ESAD-UK 13 70308059 70308059 single base substitution A G intron_variant ESAD-UK 13 70308292 70308292 single base substitution A G intron_variant ESAD-UK 13 70308325 70308325 single base substitution A G intron_variant ESAD-UK 13 70308655 70308655 single base substitution G A intron_variant ESAD-UK 13 70308951 70308951 single base substitution G T intron_variant ESAD-UK 13 70309148 70309148 single base substitution A T intron_variant ESAD-UK 13 70309241 70309241 single base substitution A G intron_variant ESAD-UK 13 70309673 70309673 single base substitution A G intron_variant ESAD-UK 13 70309724 70309724 single base substitution A T intron_variant ESAD-UK 13 70310234 70310234 single base substitution C T intron_variant ESAD-UK 13 70310422 70310422 single base substitution C A intron_variant ESAD-UK 13 70310515 70310515 single base substitution A T intron_variant ESAD-UK 13 70310823 70310823 insertion of <=200bp - TA intron_variant ESAD-UK 13 70311237 70311237 single base substitution C A intron_variant ESAD-UK 13 70311675 70311675 single base substitution T C intron_variant ESAD-UK 13 70311731 70311731 single base substitution G C intron_variant ESAD-UK 13 70311846 70311846 single base substitution G T intron_variant ESAD-UK 13 70312367 70312367 single base substitution C T intron_variant ESAD-UK 13 70312469 70312469 single base substitution T C intron_variant ESAD-UK 13 70312799 70312799 single base substitution T G intron_variant ESAD-UK 13 70312823 70312823 single base substitution A C intron_variant ESAD-UK 13 70312835 70312835 single base substitution A T intron_variant ESAD-UK 13 70313276 70313276 single base substitution G C intron_variant ESAD-UK 13 70314058 70314058 single base substitution A G intron_variant ESAD-UK 13 70314103 70314103 single base substitution T G intron_variant ESAD-UK 13 70314220 70314220 single base substitution G A intron_variant ESAD-UK 13 70314243 70314243 single base substitution T C intron_variant ESAD-UK 13 70314462 70314462 single base substitution T C intron_variant ESAD-UK 13 70314663 70314663 single base substitution A C missense_variant I362M 1086T>G ESAD-UK 13 70314663 70314663 single base substitution A C missense_variant I555M 1665T>G ESAD-UK 13 70314816 70314816 single base substitution T C intron_variant ESAD-UK 13 70315149 70315149 single base substitution T C intron_variant ESAD-UK 13 70315467 70315467 single base substitution G T intron_variant ESAD-UK 13 70315511 70315511 single base substitution G T intron_variant ESAD-UK 13 70315565 70315565 single base substitution A G intron_variant ESAD-UK 13 70316342 70316342 single base substitution G C intron_variant ESAD-UK 13 70316362 70316362 single base substitution A T intron_variant ESAD-UK 13 70316369 70316369 single base substitution G T intron_variant ESAD-UK 13 70316727 70316727 single base substitution A G intron_variant ESAD-UK 13 70317037 70317037 single base substitution G A intron_variant ESAD-UK 13 70317444 70317444 single base substitution G A intron_variant ESAD-UK 13 70317475 70317475 single base substitution A C intron_variant ESAD-UK 13 70317744 70317744 single base substitution C T intron_variant ESAD-UK 13 70317984 70317984 single base substitution A G intron_variant ESAD-UK 13 70318424 70318424 single base substitution G T intron_variant ESAD-UK 13 70318841 70318841 single base substitution A C intron_variant ESAD-UK 13 70319190 70319190 single base substitution A C intron_variant ESAD-UK 13 70319625 70319625 single base substitution A C intron_variant ESAD-UK 13 70319674 70319674 deletion of <=200bp T - intron_variant ESAD-UK 13 70319797 70319797 single base substitution T A intron_variant ESAD-UK 13 70320040 70320040 single base substitution T G intron_variant ESAD-UK 13 70320065 70320065 single base substitution A T intron_variant ESAD-UK 13 70320147 70320147 single base substitution T A intron_variant ESAD-UK 13 70320733 70320733 insertion of <=200bp - T intron_variant ESAD-UK 13 70321248 70321248 single base substitution A C intron_variant ESAD-UK 13 70321725 70321725 single base substitution A G intron_variant ESAD-UK 13 70321955 70321955 single base substitution A C intron_variant ESAD-UK 13 70322122 70322122 single base substitution C A intron_variant ESAD-UK 13 70322163 70322163 single base substitution A C intron_variant ESAD-UK 13 70322582 70322582 single base substitution G A intron_variant ESAD-UK 13 70323210 70323210 single base substitution G A intron_variant ESAD-UK 13 70323575 70323575 single base substitution A C intron_variant ESAD-UK 13 70324391 70324391 single base substitution A C intron_variant ESAD-UK 13 70324458 70324458 single base substitution T A intron_variant ESAD-UK 13 70324803 70324803 single base substitution A C intron_variant ESAD-UK 13 70325555 70325555 insertion of <=200bp - A intron_variant ESAD-UK 13 70326074 70326074 single base substitution C A intron_variant ESAD-UK 13 70326153 70326153 single base substitution T A intron_variant ESAD-UK 13 70326162 70326162 single base substitution A G intron_variant ESAD-UK 13 70326168 70326168 single base substitution T A intron_variant ESAD-UK 13 70326266 70326266 single base substitution A G intron_variant ESAD-UK 13 70326333 70326333 single base substitution A G intron_variant ESAD-UK 13 70326913 70326913 single base substitution G T intron_variant ESAD-UK 13 70327460 70327460 single base substitution G A intron_variant ESAD-UK 13 70327782 70327782 single base substitution C A intron_variant ESAD-UK 13 70327936 70327936 single base substitution T C intron_variant ESAD-UK 13 70327944 70327944 single base substitution T G intron_variant ESAD-UK 13 70328505 70328505 single base substitution A C intron_variant ESAD-UK 13 70329114 70329114 single base substitution T A intron_variant ESAD-UK 13 70329780 70329780 single base substitution T A intron_variant ESAD-UK 13 70330077 70330077 single base substitution G A intron_variant ESAD-UK 13 70330244 70330244 single base substitution A C intron_variant ESAD-UK 13 70330329 70330329 single base substitution G C intron_variant ESAD-UK 13 70330443 70330443 single base substitution A T intron_variant ESAD-UK 13 70330519 70330519 single base substitution T G intron_variant ESAD-UK 13 70330559 70330559 single base substitution A C intron_variant ESAD-UK 13 70330837 70330837 single base substitution A G intron_variant ESAD-UK 13 70331097 70331097 deletion of <=200bp A - intron_variant ESAD-UK 13 70331579 70331579 single base substitution G T intron_variant ESAD-UK 13 70331786 70331786 single base substitution C G intron_variant ESAD-UK 13 70331883 70331883 single base substitution A G intron_variant ESAD-UK 13 70332491 70332491 single base substitution T C intron_variant ESAD-UK 13 70332525 70332525 single base substitution T C intron_variant ESAD-UK 13 70332723 70332723 single base substitution G A intron_variant ESAD-UK 13 70332998 70332998 single base substitution A G intron_variant ESAD-UK 13 70334433 70334433 single base substitution T C intron_variant ESAD-UK 13 70335017 70335017 single base substitution A T intron_variant ESAD-UK 13 70335550 70335550 single base substitution T G intron_variant ESAD-UK 13 70335581 70335581 single base substitution T C intron_variant ESAD-UK 13 70335581 70335581 single base substitution T G intron_variant ESAD-UK 13 70335611 70335611 single base substitution T G intron_variant ESAD-UK 13 70335622 70335622 single base substitution T G intron_variant ESAD-UK 13 70335624 70335624 single base substitution G A intron_variant ESAD-UK 13 70335753 70335753 single base substitution T G intron_variant ESAD-UK 13 70335809 70335809 single base substitution G A intron_variant ESAD-UK 13 70335872 70335872 single base substitution A C intron_variant ESAD-UK 13 70335972 70335972 single base substitution T G intron_variant ESAD-UK 13 70336457 70336457 single base substitution A T intron_variant ESAD-UK 13 70336583 70336583 single base substitution C T intron_variant ESAD-UK 13 70337127 70337127 single base substitution A C intron_variant ESAD-UK 13 70337188 70337188 single base substitution C A intron_variant ESAD-UK 13 70337245 70337245 single base substitution A T intron_variant ESAD-UK 13 70337269 70337269 single base substitution A C intron_variant ESAD-UK 13 70337444 70337444 single base substitution T G intron_variant ESAD-UK 13 70337543 70337543 single base substitution C A intron_variant ESAD-UK 13 70337684 70337684 single base substitution G T intron_variant ESAD-UK 13 70338513 70338513 single base substitution T C intron_variant ESAD-UK 13 70338526 70338526 single base substitution A C intron_variant ESAD-UK 13 70338645 70338645 single base substitution C A intron_variant ESAD-UK 13 70339262 70339262 single base substitution C A intron_variant ESAD-UK 13 70339292 70339292 single base substitution C A intron_variant ESAD-UK 13 70339479 70339479 single base substitution A G intron_variant ESAD-UK 13 70339480 70339480 single base substitution A C intron_variant ESAD-UK 13 70339708 70339708 single base substitution G A intron_variant ESAD-UK 13 70340245 70340245 single base substitution A G intron_variant ESAD-UK 13 70340399 70340399 single base substitution A G intron_variant ESAD-UK 13 70340429 70340429 single base substitution C G intron_variant ESAD-UK 13 70340495 70340495 single base substitution G T intron_variant ESAD-UK 13 70340562 70340562 single base substitution G T intron_variant ESAD-UK 13 70340983 70340983 single base substitution A G intron_variant ESAD-UK 13 70341191 70341191 single base substitution C G intron_variant ESAD-UK 13 70341714 70341714 single base substitution T G intron_variant ESAD-UK 13 70342601 70342601 single base substitution T C intron_variant ESAD-UK 13 70342601 70342601 single base substitution T G intron_variant ESAD-UK 13 70342619 70342619 single base substitution A G intron_variant ESAD-UK 13 70342905 70342905 single base substitution G A intron_variant ESAD-UK 13 70343145 70343145 single base substitution C A intron_variant ESAD-UK 13 70343273 70343273 single base substitution G A intron_variant ESAD-UK 13 70343941 70343941 single base substitution C T intron_variant ESAD-UK 13 70344031 70344031 single base substitution C A intron_variant ESAD-UK 13 70344190 70344190 single base substitution T C intron_variant ESAD-UK 13 70344235 70344235 single base substitution G T intron_variant ESAD-UK 13 70344262 70344262 single base substitution C A intron_variant ESAD-UK 13 70344285 70344285 single base substitution A G intron_variant ESAD-UK 13 70344296 70344296 single base substitution A C intron_variant ESAD-UK 13 70344678 70344678 single base substitution T G intron_variant ESAD-UK 13 70344689 70344689 single base substitution T G intron_variant ESAD-UK 13 70345046 70345046 single base substitution T A intron_variant ESAD-UK 13 70345188 70345188 single base substitution C T intron_variant ESAD-UK 13 70345190 70345190 single base substitution A C intron_variant ESAD-UK 13 70345414 70345414 single base substitution A G intron_variant ESAD-UK 13 70345523 70345523 single base substitution T G intron_variant ESAD-UK 13 70345646 70345646 single base substitution A C intron_variant ESAD-UK 13 70345687 70345687 single base substitution T C intron_variant ESAD-UK 13 70345833 70345833 single base substitution T G intron_variant ESAD-UK 13 70345844 70345844 deletion of <=200bp G - intron_variant ESAD-UK 13 70346055 70346055 single base substitution A G intron_variant ESAD-UK 13 70346250 70346250 single base substitution A T intron_variant ESAD-UK 13 70346671 70346671 single base substitution A G intron_variant ESAD-UK 13 70346802 70346802 single base substitution T C intron_variant ESAD-UK 13 70346879 70346879 single base substitution A T intron_variant ESAD-UK 13 70346956 70346956 single base substitution A T intron_variant ESAD-UK 13 70348129 70348129 single base substitution C G intron_variant ESAD-UK 13 70348183 70348183 single base substitution A T intron_variant ESAD-UK 13 70348628 70348628 single base substitution T C intron_variant ESAD-UK 13 70348781 70348781 single base substitution T G intron_variant ESAD-UK 13 70348853 70348853 single base substitution G T intron_variant ESAD-UK 13 70349835 70349835 insertion of <=200bp - G intron_variant ESAD-UK 13 70350334 70350334 single base substitution T G intron_variant ESAD-UK 13 70350585 70350585 single base substitution T G intron_variant ESAD-UK 13 70350736 70350736 single base substitution T G intron_variant ESAD-UK 13 70350861 70350861 single base substitution T G intron_variant ESAD-UK 13 70351499 70351499 single base substitution A T intron_variant ESAD-UK 13 70351581 70351581 single base substitution T C intron_variant ESAD-UK 13 70351762 70351762 single base substitution G A intron_variant ESAD-UK 13 70352053 70352053 single base substitution T A intron_variant ESAD-UK 13 70352312 70352312 single base substitution T C intron_variant ESAD-UK 13 70352438 70352438 single base substitution A T intron_variant ESAD-UK 13 70352510 70352510 single base substitution G A intron_variant ESAD-UK 13 70352814 70352814 single base substitution C G intron_variant ESAD-UK 13 70352830 70352830 single base substitution G A intron_variant ESAD-UK 13 70352998 70352998 single base substitution T C intron_variant ESAD-UK 13 70353226 70353226 single base substitution G A intron_variant ESAD-UK 13 70353573 70353573 single base substitution T C intron_variant ESAD-UK 13 70353758 70353758 single base substitution T G intron_variant ESAD-UK 13 70354371 70354371 single base substitution C T intron_variant ESAD-UK 13 70355207 70355207 single base substitution T C intron_variant ESAD-UK 13 70355488 70355488 single base substitution A G intron_variant ESAD-UK 13 70355589 70355589 single base substitution G A intron_variant ESAD-UK 13 70355840 70355840 insertion of <=200bp - T intron_variant ESAD-UK 13 70355844 70355844 single base substitution T G intron_variant ESAD-UK 13 70355916 70355916 single base substitution G C intron_variant ESAD-UK 13 70356548 70356548 single base substitution A T intron_variant ESAD-UK 13 70356660 70356660 single base substitution T G intron_variant ESAD-UK 13 70356785 70356785 single base substitution A G intron_variant ESAD-UK 13 70357252 70357252 single base substitution C G intron_variant ESAD-UK 13 70357418 70357418 single base substitution A C intron_variant ESAD-UK 13 70359733 70359733 single base substitution G C intron_variant ESAD-UK 13 70359774 70359774 single base substitution A G intron_variant ESAD-UK 13 70360013 70360013 single base substitution C A intron_variant ESAD-UK 13 70360905 70360905 single base substitution A C intron_variant ESAD-UK 13 70362497 70362497 single base substitution C G intron_variant ESAD-UK 13 70362664 70362664 single base substitution G A intron_variant ESAD-UK 13 70362817 70362817 single base substitution T C intron_variant ESAD-UK 13 70362833 70362833 single base substitution T G intron_variant ESAD-UK 13 70362975 70362975 single base substitution T G intron_variant ESAD-UK 13 70362985 70362985 single base substitution G A intron_variant ESAD-UK 13 70363006 70363006 single base substitution G T intron_variant ESAD-UK 13 70363448 70363448 single base substitution T C intron_variant ESAD-UK 13 70363578 70363578 single base substitution A C intron_variant ESAD-UK 13 70363580 70363580 single base substitution T C intron_variant ESAD-UK 13 70363751 70363751 deletion of <=200bp T - intron_variant ESAD-UK 13 70364628 70364628 single base substitution A T intron_variant ESAD-UK 13 70364923 70364923 single base substitution T G intron_variant ESAD-UK 13 70364970 70364970 single base substitution T C intron_variant ESAD-UK 13 70365330 70365330 single base substitution A C intron_variant ESAD-UK 13 70366560 70366560 single base substitution T A intron_variant ESAD-UK 13 70366671 70366671 single base substitution T G intron_variant ESAD-UK 13 70367162 70367162 single base substitution G A intron_variant ESAD-UK 13 70367302 70367302 single base substitution T G intron_variant ESAD-UK 13 70367695 70367695 deletion of <=200bp T - intron_variant ESAD-UK 13 70367697 70367697 single base substitution T G intron_variant ESAD-UK 13 70367713 70367713 single base substitution A T intron_variant ESAD-UK 13 70367826 70367826 single base substitution A T intron_variant ESAD-UK 13 70368204 70368204 single base substitution T G intron_variant ESAD-UK 13 70368279 70368279 single base substitution A C intron_variant ESAD-UK 13 70368608 70368608 single base substitution G A intron_variant ESAD-UK 13 70368744 70368744 single base substitution A T intron_variant ESAD-UK 13 70369116 70369116 single base substitution G A intron_variant ESAD-UK 13 70369603 70369603 single base substitution G T intron_variant ESAD-UK 13 70369912 70369912 single base substitution T C intron_variant ESAD-UK 13 70370196 70370196 single base substitution G A intron_variant ESAD-UK 13 70370368 70370368 single base substitution A C intron_variant ESAD-UK 13 70370673 70370673 single base substitution A C intron_variant ESAD-UK 13 70370858 70370858 single base substitution G T intron_variant ESAD-UK 13 70371088 70371088 single base substitution G T missense_variant T281K 842C>A ESAD-UK 13 70371088 70371088 single base substitution G T missense_variant T474K 1421C>A ESAD-UK 13 70371625 70371625 single base substitution T G intron_variant ESAD-UK 13 70371893 70371893 single base substitution G A intron_variant ESAD-UK 13 70372224 70372224 single base substitution T C intron_variant ESAD-UK 13 70372428 70372428 single base substitution G T intron_variant ESAD-UK 13 70372599 70372599 single base substitution A C intron_variant ESAD-UK 13 70372713 70372713 single base substitution A C intron_variant ESAD-UK 13 70372987 70372987 single base substitution G A intron_variant ESAD-UK 13 70374112 70374112 single base substitution A C intron_variant ESAD-UK 13 70374229 70374229 single base substitution T G intron_variant ESAD-UK 13 70374276 70374276 single base substitution T G intron_variant ESAD-UK 13 70375421 70375421 single base substitution T A intron_variant ESAD-UK 13 70375571 70375571 single base substitution G T intron_variant ESAD-UK 13 70376885 70376885 single base substitution A C intron_variant ESAD-UK 13 70376950 70376950 single base substitution G A intron_variant ESAD-UK 13 70377074 70377074 single base substitution C T intron_variant ESAD-UK 13 70377854 70377854 single base substitution A G intron_variant ESAD-UK 13 70377908 70377908 single base substitution G A intron_variant ESAD-UK 13 70378312 70378312 single base substitution A G intron_variant ESAD-UK 13 70378331 70378331 single base substitution C G intron_variant ESAD-UK 13 70378398 70378398 single base substitution T C intron_variant ESAD-UK 13 70378919 70378919 single base substitution G A intron_variant ESAD-UK 13 70379418 70379418 single base substitution T G intron_variant ESAD-UK 13 70379525 70379525 single base substitution T C intron_variant ESAD-UK 13 70379540 70379540 single base substitution G T intron_variant ESAD-UK 13 70379824 70379824 single base substitution A C intron_variant ESAD-UK 13 70379829 70379829 single base substitution A C intron_variant ESAD-UK 13 70379847 70379847 single base substitution A C intron_variant ESAD-UK 13 70380009 70380009 single base substitution T C intron_variant ESAD-UK 13 70380697 70380697 single base substitution G T intron_variant ESAD-UK 13 70380885 70380885 single base substitution A T intron_variant ESAD-UK 13 70380886 70380886 single base substitution A C intron_variant ESAD-UK 13 70381009 70381009 single base substitution A C intron_variant ESAD-UK 13 70381294 70381294 single base substitution T C intron_variant ESAD-UK 13 70381457 70381457 single base substitution T G intron_variant ESAD-UK 13 70381609 70381609 single base substitution C G intron_variant ESAD-UK 13 70381669 70381669 insertion of <=200bp - ACTCCCCATGTAGTTCACCTGA intron_variant ESAD-UK 13 70381999 70381999 single base substitution A C intron_variant ESAD-UK 13 70382541 70382541 single base substitution T C intron_variant ESAD-UK 13 70382697 70382697 single base substitution A C intron_variant ESAD-UK 13 70382706 70382706 single base substitution C A intron_variant ESAD-UK 13 70383301 70383301 single base substitution T G intron_variant ESAD-UK 13 70383544 70383544 single base substitution T A intron_variant ESAD-UK 13 70383631 70383631 single base substitution A G intron_variant ESAD-UK 13 70383812 70383812 single base substitution A C intron_variant ESAD-UK 13 70384052 70384052 single base substitution A T intron_variant ESAD-UK 13 70384258 70384258 single base substitution G A intron_variant ESAD-UK 13 70384472 70384472 single base substitution C G intron_variant ESAD-UK 13 70384518 70384518 single base substitution G T intron_variant ESAD-UK 13 70384532 70384532 single base substitution C T intron_variant ESAD-UK 13 70384921 70384921 single base substitution T G intron_variant ESAD-UK 13 70385551 70385551 single base substitution A C intron_variant ESAD-UK 13 70385582 70385582 single base substitution A C intron_variant ESAD-UK 13 70385866 70385866 single base substitution T G intron_variant ESAD-UK 13 70385903 70385903 single base substitution A C intron_variant ESAD-UK 13 70386286 70386286 single base substitution T G intron_variant ESAD-UK 13 70386444 70386444 single base substitution C T intron_variant ESAD-UK 13 70387597 70387597 single base substitution C T intron_variant ESAD-UK 13 70388082 70388082 single base substitution G T intron_variant ESAD-UK 13 70388187 70388187 single base substitution C A intron_variant ESAD-UK 13 70388275 70388275 single base substitution G T intron_variant ESAD-UK 13 70388537 70388537 single base substitution G A intron_variant ESAD-UK 13 70389631 70389631 single base substitution A G intron_variant ESAD-UK 13 70389894 70389894 single base substitution T G intron_variant ESAD-UK 13 70389952 70389952 single base substitution A C intron_variant ESAD-UK 13 70390096 70390096 single base substitution T A intron_variant ESAD-UK 13 70390140 70390140 single base substitution A G intron_variant ESAD-UK 13 70390152 70390152 insertion of <=200bp - A intron_variant ESAD-UK 13 70390618 70390618 single base substitution A C intron_variant ESAD-UK 13 70391404 70391404 single base substitution C T intron_variant ESAD-UK 13 70391445 70391445 insertion of <=200bp - A intron_variant ESAD-UK 13 70391826 70391826 single base substitution T A intron_variant ESAD-UK 13 70391871 70391871 single base substitution G T intron_variant ESAD-UK 13 70392074 70392074 single base substitution A C intron_variant ESAD-UK 13 70392198 70392198 single base substitution G A intron_variant ESAD-UK 13 70392623 70392623 single base substitution T G intron_variant ESAD-UK 13 70392860 70392860 single base substitution T A intron_variant ESAD-UK 13 70393560 70393560 single base substitution T G intron_variant ESAD-UK 13 70394230 70394230 single base substitution G T intron_variant ESAD-UK 13 70394513 70394513 single base substitution T A intron_variant ESAD-UK 13 70394616 70394616 single base substitution A C intron_variant ESAD-UK 13 70394616 70394616 single base substitution A T intron_variant ESAD-UK 13 70394755 70394755 single base substitution A C intron_variant ESAD-UK 13 70394965 70394965 single base substitution T G intron_variant ESAD-UK 13 70395094 70395094 single base substitution T A intron_variant ESAD-UK 13 70395326 70395326 single base substitution G A intron_variant ESAD-UK 13 70395573 70395573 single base substitution A C intron_variant ESAD-UK 13 70396099 70396099 single base substitution A C intron_variant ESAD-UK 13 70396129 70396129 single base substitution A T intron_variant ESAD-UK 13 70396312 70396312 single base substitution A G intron_variant ESAD-UK 13 70396796 70396796 single base substitution A C intron_variant ESAD-UK 13 70396796 70396796 single base substitution A T intron_variant ESAD-UK 13 70397353 70397353 single base substitution C G intron_variant ESAD-UK 13 70397809 70397809 single base substitution A C intron_variant ESAD-UK 13 70398067 70398067 single base substitution G T intron_variant ESAD-UK 13 70398499 70398499 single base substitution A G intron_variant ESAD-UK 13 70398679 70398679 single base substitution A C intron_variant ESAD-UK 13 70398870 70398870 single base substitution T C intron_variant ESAD-UK 13 70399055 70399055 single base substitution A C intron_variant ESAD-UK 13 70399073 70399073 single base substitution A C intron_variant ESAD-UK 13 70399245 70399245 single base substitution G A intron_variant ESAD-UK 13 70399441 70399441 single base substitution T C intron_variant ESAD-UK 13 70399971 70399971 single base substitution A C intron_variant ESAD-UK 13 70399971 70399971 single base substitution A G intron_variant ESAD-UK 13 70400139 70400139 single base substitution T G intron_variant ESAD-UK 13 70400407 70400407 single base substitution C G intron_variant ESAD-UK 13 70400437 70400437 single base substitution G A intron_variant ESAD-UK 13 70401553 70401553 single base substitution G A intron_variant ESAD-UK 13 70402279 70402279 single base substitution A G intron_variant ESAD-UK 13 70402548 70402548 single base substitution T G intron_variant ESAD-UK 13 70402888 70402888 single base substitution A C intron_variant ESAD-UK 13 70403254 70403254 single base substitution A G intron_variant ESAD-UK 13 70403487 70403487 single base substitution C T intron_variant ESAD-UK 13 70404024 70404024 single base substitution A C intron_variant ESAD-UK 13 70404108 70404108 single base substitution A C intron_variant ESAD-UK 13 70404434 70404434 single base substitution T G intron_variant ESAD-UK 13 70404776 70404776 single base substitution A G intron_variant ESAD-UK 13 70405349 70405349 single base substitution A G intron_variant ESAD-UK 13 70406337 70406337 single base substitution A G intron_variant ESAD-UK 13 70406700 70406700 single base substitution T G intron_variant ESAD-UK 13 70406955 70406955 single base substitution C T intron_variant ESAD-UK 13 70407043 70407043 single base substitution A G intron_variant ESAD-UK 13 70407682 70407682 single base substitution G T intron_variant ESAD-UK 13 70408613 70408613 single base substitution T A intron_variant ESAD-UK 13 70408704 70408704 single base substitution A G intron_variant ESAD-UK 13 70409011 70409011 single base substitution A T intron_variant ESAD-UK 13 70409059 70409059 single base substitution A G intron_variant ESAD-UK 13 70409653 70409653 single base substitution A C intron_variant ESAD-UK 13 70409918 70409918 single base substitution A C intron_variant ESAD-UK 13 70409937 70409937 single base substitution A C intron_variant ESAD-UK 13 70410242 70410242 single base substitution G T intron_variant ESAD-UK 13 70410748 70410748 single base substitution A C intron_variant ESAD-UK 13 70410987 70410987 deletion of <=200bp A - intron_variant ESAD-UK 13 70410987 70410987 insertion of <=200bp - A intron_variant ESAD-UK 13 70410991 70410991 single base substitution A T intron_variant ESAD-UK 13 70411063 70411063 single base substitution A C intron_variant ESAD-UK 13 70411520 70411520 single base substitution C T intron_variant ESAD-UK 13 70411569 70411569 single base substitution A C intron_variant ESAD-UK 13 70411746 70411746 single base substitution C A intron_variant ESAD-UK 13 70411873 70411873 single base substitution C T intron_variant ESAD-UK 13 70412105 70412105 deletion of <=200bp T - intron_variant ESAD-UK 13 70412481 70412481 single base substitution T C intron_variant ESAD-UK 13 70412853 70412853 single base substitution T G intron_variant ESAD-UK 13 70413020 70413020 single base substitution C T intron_variant ESAD-UK 13 70413948 70413948 single base substitution G A intron_variant ESAD-UK 13 70414383 70414383 single base substitution T C intron_variant ESAD-UK 13 70414419 70414419 single base substitution G A intron_variant ESAD-UK 13 70414482 70414482 single base substitution A C intron_variant ESAD-UK 13 70414678 70414678 single base substitution A C intron_variant ESAD-UK 13 70414700 70414700 single base substitution G A intron_variant ESAD-UK 13 70414817 70414817 insertion of <=200bp - TA intron_variant ESAD-UK 13 70414922 70414922 single base substitution T G intron_variant ESAD-UK 13 70415148 70415148 single base substitution T G intron_variant ESAD-UK 13 70415178 70415178 single base substitution T A intron_variant ESAD-UK 13 70415372 70415372 single base substitution A C intron_variant ESAD-UK 13 70415724 70415724 single base substitution A C intron_variant ESAD-UK 13 70417218 70417218 single base substitution A G intron_variant ESAD-UK 13 70417374 70417374 single base substitution C A intron_variant ESAD-UK 13 70417375 70417375 single base substitution T A intron_variant ESAD-UK 13 70417405 70417405 insertion of <=200bp - A intron_variant ESAD-UK 13 70418310 70418310 single base substitution T A intron_variant ESAD-UK 13 70418372 70418372 single base substitution C T intron_variant ESAD-UK 13 70418473 70418473 single base substitution C A intron_variant ESAD-UK 13 70418529 70418529 single base substitution T C intron_variant ESAD-UK 13 70418685 70418685 single base substitution G A intron_variant ESAD-UK 13 70419720 70419720 single base substitution T G intron_variant ESAD-UK 13 70420007 70420007 single base substitution A C intron_variant ESAD-UK 13 70420580 70420580 single base substitution T G intron_variant ESAD-UK 13 70420765 70420765 single base substitution A T intron_variant ESAD-UK 13 70421405 70421408 deletion of <=200bp ACAG - intron_variant ESAD-UK 13 70421423 70421423 single base substitution T A intron_variant ESAD-UK 13 70422037 70422037 single base substitution T G intron_variant ESAD-UK 13 70422349 70422349 single base substitution G A intron_variant ESAD-UK 13 70422678 70422678 single base substitution T A intron_variant ESAD-UK 13 70423669 70423669 single base substitution T G intron_variant ESAD-UK 13 70423923 70423923 single base substitution C T intron_variant ESAD-UK 13 70424161 70424161 single base substitution C G intron_variant ESAD-UK 13 70424168 70424168 single base substitution G A intron_variant ESAD-UK 13 70424673 70424673 single base substitution C A intron_variant ESAD-UK 13 70425080 70425080 single base substitution G A intron_variant ESAD-UK 13 70425108 70425108 single base substitution T G intron_variant ESAD-UK 13 70425803 70425803 single base substitution C T intron_variant ESAD-UK 13 70425885 70425885 single base substitution A C intron_variant ESAD-UK 13 70426223 70426223 single base substitution T A intron_variant ESAD-UK 13 70426373 70426373 single base substitution T C intron_variant ESAD-UK 13 70426681 70426681 single base substitution G C intron_variant ESAD-UK 13 70426927 70426927 single base substitution T G intron_variant ESAD-UK 13 70426991 70426991 single base substitution T G intron_variant ESAD-UK 13 70427114 70427114 single base substitution T G intron_variant ESAD-UK 13 70427508 70427508 single base substitution G A intron_variant ESAD-UK 13 70427661 70427661 single base substitution A T intron_variant ESAD-UK 13 70428025 70428025 single base substitution G A intron_variant ESAD-UK 13 70428433 70428433 single base substitution G A intron_variant ESAD-UK 13 70428996 70428996 single base substitution T G intron_variant ESAD-UK 13 70429254 70429254 single base substitution A C intron_variant ESAD-UK 13 70429719 70429719 single base substitution T A intron_variant ESAD-UK 13 70429860 70429860 single base substitution C T intron_variant ESAD-UK 13 70430453 70430453 single base substitution G C intron_variant ESAD-UK 13 70431546 70431546 single base substitution T G intron_variant ESAD-UK 13 70431554 70431554 single base substitution T C intron_variant ESAD-UK 13 70431565 70431565 single base substitution T A intron_variant ESAD-UK 13 70431565 70431565 single base substitution T G intron_variant ESAD-UK 13 70431901 70431901 single base substitution T G intron_variant ESAD-UK 13 70431985 70431985 insertion of <=200bp - AT intron_variant ESAD-UK 13 70432025 70432025 single base substitution T C intron_variant ESAD-UK 13 70432644 70432644 single base substitution T C intron_variant ESAD-UK 13 70432864 70432864 single base substitution G A intron_variant ESAD-UK 13 70433047 70433047 single base substitution G A intron_variant ESAD-UK 13 70433141 70433141 single base substitution T G intron_variant ESAD-UK 13 70433314 70433314 single base substitution C T intron_variant ESAD-UK 13 70433986 70433986 single base substitution A G intron_variant ESAD-UK 13 70435455 70435455 single base substitution T A intron_variant ESAD-UK 13 70435459 70435459 single base substitution A C intron_variant ESAD-UK 13 70436670 70436670 single base substitution A C intron_variant ESAD-UK 13 70436764 70436764 single base substitution G A intron_variant ESAD-UK 13 70437373 70437373 single base substitution T A intron_variant ESAD-UK 13 70438622 70438622 single base substitution A C intron_variant ESAD-UK 13 70438712 70438712 single base substitution C A intron_variant ESAD-UK 13 70438944 70438944 single base substitution C A intron_variant ESAD-UK 13 70439277 70439277 single base substitution C G intron_variant ESAD-UK 13 70439568 70439568 insertion of <=200bp - A intron_variant ESAD-UK 13 70439592 70439592 single base substitution G T intron_variant ESAD-UK 13 70439611 70439611 single base substitution C T intron_variant ESAD-UK 13 70439853 70439853 single base substitution A C intron_variant ESAD-UK 13 70440856 70440856 single base substitution G A intron_variant ESAD-UK 13 70441326 70441326 single base substitution T G intron_variant ESAD-UK 13 70441367 70441367 single base substitution G A intron_variant ESAD-UK 13 70441859 70441859 deletion of <=200bp C - intron_variant ESAD-UK 13 70442362 70442362 single base substitution C T intron_variant ESAD-UK 13 70442831 70442831 single base substitution A T intron_variant ESAD-UK 13 70443129 70443129 insertion of <=200bp - A intron_variant ESAD-UK 13 70443389 70443389 single base substitution T A intron_variant ESAD-UK 13 70443427 70443427 single base substitution G A intron_variant ESAD-UK 13 70443595 70443595 single base substitution A T intron_variant ESAD-UK 13 70443656 70443656 single base substitution G A intron_variant ESAD-UK 13 70443888 70443888 single base substitution A T intron_variant ESAD-UK 13 70444423 70444423 single base substitution T G intron_variant ESAD-UK 13 70444572 70444572 single base substitution A G intron_variant ESAD-UK 13 70444628 70444628 single base substitution T G intron_variant ESAD-UK 13 70445115 70445115 deletion of <=200bp A - intron_variant ESAD-UK 13 70445135 70445135 single base substitution A G intron_variant ESAD-UK 13 70445536 70445536 single base substitution G A intron_variant ESAD-UK 13 70445667 70445667 single base substitution T G intron_variant ESAD-UK 13 70445688 70445688 single base substitution C T intron_variant ESAD-UK 13 70445755 70445755 single base substitution G A intron_variant ESAD-UK 13 70445777 70445777 single base substitution T G intron_variant ESAD-UK 13 70445811 70445811 single base substitution A C intron_variant ESAD-UK 13 70445976 70445976 single base substitution A T intron_variant ESAD-UK 13 70446062 70446062 single base substitution T C intron_variant ESAD-UK 13 70446062 70446062 single base substitution T G intron_variant ESAD-UK 13 70446469 70446469 single base substitution C A intron_variant ESAD-UK 13 70446573 70446573 single base substitution T G intron_variant ESAD-UK 13 70447681 70447681 single base substitution A T intron_variant ESAD-UK 13 70449077 70449077 single base substitution A C intron_variant ESAD-UK 13 70449100 70449100 insertion of <=200bp - T intron_variant ESAD-UK 13 70449218 70449218 single base substitution G T intron_variant ESAD-UK 13 70450149 70450149 single base substitution T G intron_variant ESAD-UK 13 70450408 70450408 single base substitution C G intron_variant ESAD-UK 13 70450460 70450460 single base substitution C T intron_variant ESAD-UK 13 70450469 70450469 single base substitution C T intron_variant ESAD-UK 13 70451279 70451279 single base substitution T G intron_variant ESAD-UK 13 70451302 70451302 single base substitution T G intron_variant ESAD-UK 13 70451373 70451373 single base substitution A C intron_variant ESAD-UK 13 70452140 70452140 single base substitution A C intron_variant ESAD-UK 13 70452355 70452355 single base substitution C T intron_variant ESAD-UK 13 70452453 70452453 single base substitution G T intron_variant ESAD-UK 13 70453232 70453232 single base substitution G A intron_variant ESAD-UK 13 70453250 70453250 single base substitution T C intron_variant ESAD-UK 13 70453628 70453628 single base substitution T C intron_variant ESAD-UK 13 70453816 70453816 insertion of <=200bp - T intron_variant ESAD-UK 13 70454642 70454642 single base substitution G C intron_variant ESAD-UK 13 70455012 70455012 single base substitution C T intron_variant ESAD-UK 13 70455572 70455572 single base substitution A G intron_variant ESAD-UK 13 70455611 70455611 single base substitution A G intron_variant ESAD-UK 13 70455708 70455708 single base substitution G T intron_variant ESAD-UK 13 70455760 70455760 single base substitution T C intron_variant ESAD-UK 13 70455789 70455789 single base substitution T G intron_variant ESAD-UK 13 70456068 70456068 single base substitution C A intron_variant ESAD-UK 13 70456280 70456280 single base substitution T G intron_variant ESAD-UK 13 70456449 70456449 single base substitution A G missense_variant L205P 614T>C ESAD-UK 13 70456449 70456449 single base substitution A G missense_variant L398P 1193T>C ESAD-UK 13 70456667 70456667 single base substitution T G intron_variant ESAD-UK 13 70457119 70457119 single base substitution A C intron_variant ESAD-UK 13 70457154 70457154 single base substitution C A intron_variant ESAD-UK 13 70457370 70457370 single base substitution C A intron_variant ESAD-UK 13 70457701 70457701 single base substitution T G intron_variant ESAD-UK 13 70458428 70458428 single base substitution G T intron_variant ESAD-UK 13 70458443 70458443 single base substitution G C intron_variant ESAD-UK 13 70458625 70458625 single base substitution C T intron_variant ESAD-UK 13 70458719 70458719 single base substitution T C intron_variant ESAD-UK 13 70460723 70460723 single base substitution A T intron_variant ESAD-UK 13 70461002 70461002 single base substitution A G intron_variant ESAD-UK 13 70461117 70461117 single base substitution T C intron_variant ESAD-UK 13 70461791 70461791 single base substitution C A intron_variant ESAD-UK 13 70462092 70462092 single base substitution A C intron_variant ESAD-UK 13 70462178 70462178 single base substitution T C intron_variant ESAD-UK 13 70462449 70462449 single base substitution A G intron_variant ESAD-UK 13 70462642 70462642 single base substitution A C intron_variant ESAD-UK 13 70462743 70462743 single base substitution A C intron_variant ESAD-UK 13 70462841 70462841 single base substitution A C intron_variant ESAD-UK 13 70463295 70463295 single base substitution T G intron_variant ESAD-UK 13 70463825 70463825 single base substitution G A intron_variant ESAD-UK 13 70464065 70464065 single base substitution G A intron_variant ESAD-UK 13 70464467 70464467 single base substitution C G intron_variant ESAD-UK 13 70464551 70464551 single base substitution T C intron_variant ESAD-UK 13 70464820 70464820 single base substitution A C intron_variant ESAD-UK 13 70464915 70464915 single base substitution C T intron_variant ESAD-UK 13 70465200 70465200 single base substitution A T intron_variant ESAD-UK 13 70465221 70465221 single base substitution T G intron_variant ESAD-UK 13 70465278 70465278 single base substitution C T intron_variant ESAD-UK 13 70465393 70465393 single base substitution A C intron_variant ESAD-UK 13 70465962 70465962 single base substitution A G intron_variant ESAD-UK 13 70466106 70466106 single base substitution T C intron_variant ESAD-UK 13 70466377 70466377 single base substitution T G intron_variant ESAD-UK 13 70466629 70466629 single base substitution T G intron_variant ESAD-UK 13 70466742 70466742 single base substitution A C intron_variant ESAD-UK 13 70466929 70466929 single base substitution T A intron_variant ESAD-UK 13 70467201 70467201 single base substitution T C intron_variant ESAD-UK 13 70467266 70467266 single base substitution A T intron_variant ESAD-UK 13 70468156 70468156 single base substitution T C intron_variant ESAD-UK 13 70468498 70468498 single base substitution C A intron_variant ESAD-UK 13 70468706 70468706 single base substitution T G intron_variant ESAD-UK 13 70468942 70468942 single base substitution T G intron_variant ESAD-UK 13 70470185 70470185 single base substitution G T intron_variant ESAD-UK 13 70470378 70470378 single base substitution C T intron_variant ESAD-UK 13 70470449 70470449 single base substitution T G intron_variant ESAD-UK 13 70470520 70470520 single base substitution C A intron_variant ESAD-UK 13 70470651 70470651 single base substitution A G intron_variant ESAD-UK 13 70470652 70470652 single base substitution A C intron_variant ESAD-UK 13 70471113 70471113 single base substitution T G intron_variant ESAD-UK 13 70471443 70471443 single base substitution C T intron_variant ESAD-UK 13 70471460 70471460 single base substitution T C intron_variant ESAD-UK 13 70471468 70471468 single base substitution T G intron_variant ESAD-UK 13 70471489 70471489 single base substitution T G intron_variant ESAD-UK 13 70471616 70471616 single base substitution C G intron_variant ESAD-UK 13 70471640 70471640 single base substitution T C intron_variant ESAD-UK 13 70471984 70471984 single base substitution T C intron_variant ESAD-UK 13 70472329 70472329 single base substitution G A intron_variant ESAD-UK 13 70472446 70472446 single base substitution A G intron_variant ESAD-UK 13 70472542 70472542 single base substitution T C intron_variant ESAD-UK 13 70472542 70472542 single base substitution T G intron_variant ESAD-UK 13 70472711 70472711 single base substitution T G intron_variant ESAD-UK 13 70472934 70472934 single base substitution C A intron_variant ESAD-UK 13 70473451 70473451 single base substitution A C intron_variant ESAD-UK 13 70473467 70473467 single base substitution A C intron_variant ESAD-UK 13 70473467 70473467 single base substitution A G intron_variant ESAD-UK 13 70473552 70473552 single base substitution C A intron_variant ESAD-UK 13 70473666 70473666 single base substitution C T intron_variant ESAD-UK 13 70474444 70474444 single base substitution A G intron_variant ESAD-UK 13 70474519 70474519 single base substitution G T intron_variant ESAD-UK 13 70475109 70475109 single base substitution G C intron_variant ESAD-UK 13 70475209 70475209 single base substitution C A intron_variant ESAD-UK 13 70475362 70475362 deletion of <=200bp A - intron_variant ESAD-UK 13 70475539 70475539 single base substitution A C intron_variant ESAD-UK 13 70475647 70475647 single base substitution A C intron_variant ESAD-UK 13 70475797 70475797 single base substitution T G intron_variant ESAD-UK 13 70475873 70475873 single base substitution T G intron_variant ESAD-UK 13 70476255 70476255 single base substitution T A intron_variant ESAD-UK 13 70476444 70476444 single base substitution G A intron_variant ESAD-UK 13 70476574 70476574 single base substitution A C intron_variant ESAD-UK 13 70476712 70476712 single base substitution A C intron_variant ESAD-UK 13 70476971 70476971 single base substitution A T intron_variant ESAD-UK 13 70477017 70477017 single base substitution C A intron_variant ESAD-UK 13 70477129 70477129 single base substitution A C intron_variant ESAD-UK 13 70477401 70477401 single base substitution C A intron_variant ESAD-UK 13 70478255 70478255 single base substitution A C intron_variant ESAD-UK 13 70478868 70478868 single base substitution T C intron_variant ESAD-UK 13 70478883 70478883 single base substitution C T intron_variant ESAD-UK 13 70479022 70479022 single base substitution A C intron_variant ESAD-UK 13 70479368 70479368 single base substitution C T intron_variant ESAD-UK 13 70479927 70479927 single base substitution G T intron_variant ESAD-UK 13 70479962 70479962 single base substitution A G intron_variant ESAD-UK 13 70480174 70480174 single base substitution G A intron_variant ESAD-UK 13 70480549 70480549 single base substitution T G intron_variant ESAD-UK 13 70480697 70480697 single base substitution T G intron_variant ESAD-UK 13 70481358 70481358 single base substitution G A intron_variant ESAD-UK 13 70482410 70482410 single base substitution G A intron_variant ESAD-UK 13 70482414 70482414 single base substitution A T intron_variant ESAD-UK 13 70482541 70482541 single base substitution A G intron_variant ESAD-UK 13 70482559 70482559 single base substitution T C intron_variant ESAD-UK 13 70482720 70482720 single base substitution A C intron_variant ESAD-UK 13 70483271 70483271 single base substitution A G intron_variant ESAD-UK 13 70483676 70483676 single base substitution T A intron_variant ESAD-UK 13 70483883 70483883 single base substitution T C intron_variant ESAD-UK 13 70484742 70484742 single base substitution T G intron_variant ESAD-UK 13 70484751 70484751 single base substitution A C intron_variant ESAD-UK 13 70484754 70484754 single base substitution T G intron_variant ESAD-UK 13 70484791 70484791 single base substitution A C intron_variant ESAD-UK 13 70485076 70485076 single base substitution A G intron_variant ESAD-UK 13 70485390 70485390 single base substitution T G intron_variant ESAD-UK 13 70485392 70485392 single base substitution T G intron_variant ESAD-UK 13 70485910 70485910 single base substitution C G intron_variant ESAD-UK 13 70486349 70486349 single base substitution G C intron_variant ESAD-UK 13 70486489 70486489 deletion of <=200bp A - intron_variant ESAD-UK 13 70486845 70486845 single base substitution A G intron_variant ESAD-UK 13 70487044 70487044 single base substitution G A intron_variant ESAD-UK 13 70487180 70487180 deletion of <=200bp G - intron_variant ESAD-UK 13 70487558 70487558 single base substitution T G intron_variant ESAD-UK 13 70487614 70487614 single base substitution G T intron_variant ESAD-UK 13 70488424 70488424 single base substitution G C intron_variant ESAD-UK 13 70488727 70488727 deletion of <=200bp T - intron_variant ESAD-UK 13 70488784 70488784 single base substitution A C intron_variant ESAD-UK 13 70491993 70491993 single base substitution G C intron_variant ESAD-UK 13 70492188 70492188 single base substitution A G intron_variant ESAD-UK 13 70492488 70492488 insertion of <=200bp - G intron_variant ESAD-UK 13 70492649 70492649 single base substitution T C intron_variant ESAD-UK 13 70492944 70492944 single base substitution T G intron_variant ESAD-UK 13 70493233 70493233 single base substitution C T intron_variant ESAD-UK 13 70493874 70493874 single base substitution T C intron_variant ESAD-UK 13 70494138 70494138 single base substitution C G intron_variant ESAD-UK 13 70494150 70494150 single base substitution A C intron_variant ESAD-UK 13 70494316 70494316 single base substitution A G intron_variant ESAD-UK 13 70494375 70494375 single base substitution A G intron_variant ESAD-UK 13 70494506 70494506 single base substitution A G intron_variant ESAD-UK 13 70494669 70494669 single base substitution A C intron_variant ESAD-UK 13 70494674 70494674 single base substitution A G intron_variant ESAD-UK 13 70494745 70494745 single base substitution T C intron_variant ESAD-UK 13 70494833 70494833 single base substitution A G intron_variant ESAD-UK 13 70495027 70495027 single base substitution T G intron_variant ESAD-UK 13 70495140 70495140 single base substitution C A intron_variant ESAD-UK 13 70495141 70495141 single base substitution T G intron_variant ESAD-UK 13 70495631 70495631 single base substitution C A intron_variant ESAD-UK 13 70495880 70495880 single base substitution T C intron_variant ESAD-UK 13 70497435 70497435 single base substitution T C intron_variant ESAD-UK 13 70497627 70497627 single base substitution T C intron_variant ESAD-UK 13 70497737 70497737 single base substitution T C intron_variant ESAD-UK 13 70497778 70497778 single base substitution T C intron_variant ESAD-UK 13 70498111 70498111 single base substitution T A intron_variant ESAD-UK 13 70498501 70498501 single base substitution T G intron_variant ESAD-UK 13 70498504 70498504 single base substitution T G intron_variant ESAD-UK 13 70498520 70498520 single base substitution A T intron_variant ESAD-UK 13 70498765 70498765 single base substitution A C intron_variant ESAD-UK 13 70498767 70498767 single base substitution T C intron_variant ESAD-UK 13 70499329 70499329 single base substitution T G intron_variant ESAD-UK 13 70499338 70499338 single base substitution T G intron_variant ESAD-UK 13 70499447 70499447 single base substitution T G intron_variant ESAD-UK 13 70499496 70499496 single base substitution T C intron_variant ESAD-UK 13 70499991 70499991 single base substitution T G intron_variant ESAD-UK 13 70500458 70500458 single base substitution C T intron_variant ESAD-UK 13 70500565 70500565 single base substitution T C intron_variant ESAD-UK 13 70500970 70500970 single base substitution T G intron_variant ESAD-UK 13 70501857 70501857 single base substitution G T intron_variant ESAD-UK 13 70502295 70502295 single base substitution C A intron_variant ESAD-UK 13 70502576 70502576 single base substitution T G intron_variant ESAD-UK 13 70503187 70503187 single base substitution G A intron_variant ESAD-UK 13 70503223 70503223 single base substitution T G intron_variant ESAD-UK 13 70503654 70503654 single base substitution G A intron_variant ESAD-UK 13 70503671 70503671 single base substitution C T intron_variant ESAD-UK 13 70503672 70503672 single base substitution T G intron_variant ESAD-UK 13 70504319 70504319 single base substitution T C intron_variant ESAD-UK 13 70504369 70504369 single base substitution A T intron_variant ESAD-UK 13 70504746 70504746 single base substitution T G intron_variant ESAD-UK 13 70505164 70505164 single base substitution C T intron_variant ESAD-UK 13 70505193 70505193 single base substitution C A intron_variant ESAD-UK 13 70505323 70505323 single base substitution A C intron_variant ESAD-UK 13 70505365 70505365 single base substitution C G intron_variant ESAD-UK 13 70505585 70505585 single base substitution A T intron_variant ESAD-UK 13 70506010 70506010 single base substitution A C intron_variant ESAD-UK 13 70506279 70506279 single base substitution A C intron_variant ESAD-UK 13 70506279 70506279 single base substitution A G intron_variant ESAD-UK 13 70506351 70506351 single base substitution C T intron_variant ESAD-UK 13 70506442 70506442 single base substitution T C intron_variant ESAD-UK 13 70506553 70506553 single base substitution A C intron_variant ESAD-UK 13 70506743 70506743 single base substitution A C intron_variant ESAD-UK 13 70507299 70507299 single base substitution A G intron_variant ESAD-UK 13 70508168 70508168 single base substitution G T intron_variant ESAD-UK 13 70508260 70508260 single base substitution T A intron_variant ESAD-UK 13 70508357 70508357 single base substitution G A intron_variant ESAD-UK 13 70508516 70508516 single base substitution G A intron_variant ESAD-UK 13 70508622 70508622 single base substitution T C intron_variant ESAD-UK 13 70509142 70509142 single base substitution A C intron_variant ESAD-UK 13 70510906 70510906 single base substitution A G intron_variant ESAD-UK 13 70511972 70511972 single base substitution G A intron_variant ESAD-UK 13 70512118 70512118 single base substitution G T intron_variant ESAD-UK 13 70512247 70512247 single base substitution C A intron_variant ESAD-UK 13 70512409 70512409 single base substitution T G intron_variant ESAD-UK 13 70512783 70512783 single base substitution T G intron_variant ESAD-UK 13 70513341 70513341 single base substitution C T intron_variant ESAD-UK 13 70513622 70513622 single base substitution G A intron_variant ESAD-UK 13 70513952 70513952 deletion of <=200bp T - intron_variant ESAD-UK 13 70514117 70514117 single base substitution T G intron_variant ESAD-UK 13 70514650 70514650 single base substitution T A intron_variant ESAD-UK 13 70515046 70515046 single base substitution A C intron_variant ESAD-UK 13 70515141 70515141 single base substitution A C intron_variant ESAD-UK 13 70515183 70515183 single base substitution G A intron_variant ESAD-UK 13 70515866 70515866 single base substitution A G intron_variant ESAD-UK 13 70516136 70516136 single base substitution G A intron_variant ESAD-UK 13 70516206 70516206 single base substitution T G intron_variant ESAD-UK 13 70517065 70517065 single base substitution T C intron_variant ESAD-UK 13 70517376 70517376 single base substitution A C intron_variant ESAD-UK 13 70517745 70517745 single base substitution C A intron_variant ESAD-UK 13 70517914 70517914 single base substitution T G intron_variant ESAD-UK 13 70517926 70517926 single base substitution T C intron_variant ESAD-UK 13 70517926 70517926 single base substitution T G intron_variant ESAD-UK 13 70517935 70517935 single base substitution A C intron_variant ESAD-UK 13 70517975 70517975 single base substitution T G intron_variant ESAD-UK 13 70517998 70517998 single base substitution T G intron_variant ESAD-UK 13 70518393 70518393 single base substitution G T intron_variant ESAD-UK 13 70518484 70518484 single base substitution G T intron_variant ESAD-UK 13 70518575 70518575 single base substitution G T intron_variant ESAD-UK 13 70518869 70518869 single base substitution C T intron_variant ESAD-UK 13 70518941 70518941 single base substitution C G intron_variant ESAD-UK 13 70519367 70519367 single base substitution A G intron_variant ESAD-UK 13 70519369 70519369 single base substitution T C intron_variant ESAD-UK 13 70519415 70519415 single base substitution T G intron_variant ESAD-UK 13 70519598 70519598 single base substitution A G intron_variant ESAD-UK 13 70520532 70520532 single base substitution G C intron_variant ESAD-UK 13 70521225 70521225 single base substitution C A intron_variant ESAD-UK 13 70521415 70521415 single base substitution G T intron_variant ESAD-UK 13 70521952 70521952 single base substitution G A intron_variant ESAD-UK 13 70522341 70522341 single base substitution T A intron_variant ESAD-UK 13 70522598 70522598 single base substitution G C intron_variant ESAD-UK 13 70522841 70522841 single base substitution A G intron_variant ESAD-UK 13 70523027 70523027 single base substitution C G intron_variant ESAD-UK 13 70523030 70523030 single base substitution A C intron_variant ESAD-UK 13 70523518 70523518 single base substitution G A intron_variant ESAD-UK 13 70524208 70524208 single base substitution A T intron_variant ESAD-UK 13 70524278 70524278 single base substitution A G intron_variant ESAD-UK 13 70524788 70524788 single base substitution T G intron_variant ESAD-UK 13 70524956 70524956 single base substitution A C intron_variant ESAD-UK 13 70525216 70525216 single base substitution T C intron_variant ESAD-UK 13 70525299 70525299 single base substitution T G intron_variant ESAD-UK 13 70525360 70525360 single base substitution T G intron_variant ESAD-UK 13 70525406 70525406 single base substitution T G intron_variant ESAD-UK 13 70525424 70525424 single base substitution T C intron_variant ESAD-UK 13 70526186 70526186 single base substitution A C intron_variant ESAD-UK 13 70526186 70526186 single base substitution A G intron_variant ESAD-UK 13 70526286 70526286 single base substitution A C intron_variant ESAD-UK 13 70526337 70526337 single base substitution A C intron_variant ESAD-UK 13 70526380 70526380 single base substitution A G intron_variant ESAD-UK 13 70526381 70526381 single base substitution A G intron_variant ESAD-UK 13 70526422 70526422 single base substitution T A intron_variant ESAD-UK 13 70526440 70526440 single base substitution G A intron_variant ESAD-UK 13 70526602 70526602 single base substitution A C intron_variant ESAD-UK 13 70526724 70526724 single base substitution A G intron_variant ESAD-UK 13 70527163 70527163 single base substitution T C intron_variant ESAD-UK 13 70527199 70527199 single base substitution A G intron_variant ESAD-UK 13 70527637 70527637 single base substitution T A intron_variant ESAD-UK 13 70527749 70527749 single base substitution A T intron_variant ESAD-UK 13 70527790 70527790 single base substitution A C intron_variant ESAD-UK 13 70527857 70527857 single base substitution C A intron_variant ESAD-UK 13 70527925 70527925 single base substitution A C intron_variant ESAD-UK 13 70527925 70527925 single base substitution A G intron_variant ESAD-UK 13 70528381 70528381 single base substitution A C intron_variant ESAD-UK 13 70528398 70528398 single base substitution T C intron_variant ESAD-UK 13 70529260 70529260 single base substitution A C intron_variant ESAD-UK 13 70529360 70529360 single base substitution T C intron_variant ESAD-UK 13 70529429 70529429 single base substitution C T intron_variant ESAD-UK 13 70529526 70529526 single base substitution A C intron_variant ESAD-UK 13 70529652 70529652 single base substitution G A intron_variant ESAD-UK 13 70530759 70530759 single base substitution T G intron_variant ESAD-UK 13 70530760 70530760 single base substitution T A intron_variant ESAD-UK 13 70531196 70531196 single base substitution T C intron_variant ESAD-UK 13 70531232 70531232 single base substitution G A intron_variant ESAD-UK 13 70531566 70531566 single base substitution G T intron_variant ESAD-UK 13 70532321 70532321 single base substitution T G intron_variant ESAD-UK 13 70532371 70532371 insertion of <=200bp - AAT intron_variant ESAD-UK 13 70532545 70532545 single base substitution T G intron_variant ESAD-UK 13 70532648 70532648 single base substitution T G intron_variant ESAD-UK 13 70533633 70533633 single base substitution T G intron_variant ESAD-UK 13 70534179 70534179 insertion of <=200bp - A intron_variant ESAD-UK 13 70534524 70534524 single base substitution A C intron_variant ESAD-UK 13 70534740 70534740 single base substitution C T intron_variant ESAD-UK 13 70535037 70535037 single base substitution A C intron_variant ESAD-UK 13 70535039 70535039 single base substitution T G intron_variant ESAD-UK 13 70535040 70535040 single base substitution T G intron_variant ESAD-UK 13 70535097 70535097 single base substitution A G intron_variant ESAD-UK 13 70535196 70535196 single base substitution C T intron_variant ESAD-UK 13 70535544 70535544 single base substitution G A missense_variant A238V 713C>T ESAD-UK 13 70535544 70535544 single base substitution G A missense_variant A45V 134C>T ESAD-UK 13 70536199 70536199 single base substitution T G intron_variant ESAD-UK 13 70536290 70536290 single base substitution A G intron_variant ESAD-UK 13 70536488 70536488 single base substitution C T intron_variant ESAD-UK 13 70537014 70537014 single base substitution T C intron_variant ESAD-UK 13 70537841 70537841 single base substitution T C intron_variant ESAD-UK 13 70537862 70537862 single base substitution G T intron_variant ESAD-UK 13 70537948 70537948 single base substitution T C intron_variant ESAD-UK 13 70538484 70538484 single base substitution G A intron_variant ESAD-UK 13 70538596 70538596 single base substitution A C intron_variant ESAD-UK 13 70538604 70538604 single base substitution T G intron_variant ESAD-UK 13 70538712 70538712 single base substitution A C intron_variant ESAD-UK 13 70539582 70539582 single base substitution C T intron_variant ESAD-UK 13 70539587 70539587 single base substitution A G intron_variant ESAD-UK 13 70539775 70539775 single base substitution A T intron_variant ESAD-UK 13 70540286 70540286 single base substitution G A intron_variant ESAD-UK 13 70540734 70540734 single base substitution T G intron_variant ESAD-UK 13 70540908 70540908 single base substitution T G intron_variant ESAD-UK 13 70540974 70540974 single base substitution T G intron_variant ESAD-UK 13 70541083 70541083 single base substitution T C intron_variant ESAD-UK 13 70541369 70541369 single base substitution A C intron_variant ESAD-UK 13 70541450 70541450 single base substitution T C intron_variant ESAD-UK 13 70541498 70541498 single base substitution A C intron_variant ESAD-UK 13 70541581 70541581 single base substitution T G intron_variant ESAD-UK 13 70541628 70541628 single base substitution T A intron_variant ESAD-UK 13 70542318 70542318 single base substitution A G intron_variant ESAD-UK 13 70542539 70542539 single base substitution T G intron_variant ESAD-UK 13 70542802 70542802 single base substitution A C intron_variant ESAD-UK 13 70543311 70543311 single base substitution C T intron_variant ESAD-UK 13 70543825 70543825 single base substitution T C intron_variant ESAD-UK 13 70543830 70543830 insertion of <=200bp - A intron_variant ESAD-UK 13 70544070 70544070 insertion of <=200bp - G intron_variant ESAD-UK 13 70544073 70544073 single base substitution T G intron_variant ESAD-UK 13 70544431 70544431 single base substitution T C intron_variant ESAD-UK 13 70544611 70544611 single base substitution C T intron_variant ESAD-UK 13 70544724 70544724 single base substitution G T intron_variant ESAD-UK 13 70545160 70545160 single base substitution A C intron_variant ESAD-UK 13 70545559 70545559 single base substitution A G intron_variant ESAD-UK 13 70545740 70545740 single base substitution C T intron_variant ESAD-UK 13 70545763 70545763 single base substitution T C intron_variant ESAD-UK 13 70545942 70545942 single base substitution T G intron_variant ESAD-UK 13 70546108 70546108 single base substitution A C intron_variant ESAD-UK 13 70546503 70546503 single base substitution G A intron_variant ESAD-UK 13 70546757 70546757 single base substitution G C intron_variant ESAD-UK 13 70547000 70547000 single base substitution G T intron_variant ESAD-UK 13 70547207 70547207 single base substitution G A intron_variant ESAD-UK 13 70547709 70547709 single base substitution A C intron_variant ESAD-UK 13 70548325 70548325 single base substitution C A intron_variant ESAD-UK 13 70549362 70549362 single base substitution G C intron_variant ESAD-UK 13 70549452 70549452 single base substitution G C intron_variant ESAD-UK 13 70549578 70549578 single base substitution A G intron_variant ESAD-UK 13 70550509 70550509 single base substitution T A intron_variant ESAD-UK 13 70550620 70550620 deletion of <=200bp A - intron_variant ESAD-UK 13 70550620 70550620 insertion of <=200bp - A intron_variant ESAD-UK 13 70550944 70550944 single base substitution C T intron_variant ESAD-UK 13 70551560 70551560 single base substitution G A intron_variant ESAD-UK 13 70552234 70552234 single base substitution T A intron_variant ESAD-UK 13 70552779 70552779 single base substitution C T intron_variant ESAD-UK 13 70553293 70553293 single base substitution A T intron_variant ESAD-UK 13 70553300 70553300 single base substitution C A intron_variant ESAD-UK 13 70553490 70553490 single base substitution C G intron_variant ESAD-UK 13 70553618 70553618 single base substitution A G intron_variant ESAD-UK 13 70553838 70553838 single base substitution G T intron_variant ESAD-UK 13 70554203 70554203 single base substitution G A intron_variant ESAD-UK 13 70554328 70554328 single base substitution C A intron_variant ESAD-UK 13 70554472 70554472 single base substitution G C intron_variant ESAD-UK 13 70555700 70555700 single base substitution A C intron_variant ESAD-UK 13 70555891 70555891 deletion of <=200bp C - intron_variant ESAD-UK 13 70555898 70555898 single base substitution A G intron_variant ESAD-UK 13 70556662 70556662 single base substitution C A intron_variant ESAD-UK 13 70556664 70556664 single base substitution T A intron_variant ESAD-UK 13 70556861 70556861 single base substitution C T intron_variant ESAD-UK 13 70557139 70557139 single base substitution A C intron_variant ESAD-UK 13 70557949 70557949 single base substitution A C intron_variant ESAD-UK 13 70558262 70558262 single base substitution G T intron_variant ESAD-UK 13 70559111 70559111 single base substitution C T intron_variant ESAD-UK 13 70559591 70559591 single base substitution A T intron_variant ESAD-UK 13 70559601 70559601 single base substitution T C intron_variant ESAD-UK 13 70560043 70560043 insertion of <=200bp - TA intron_variant ESAD-UK 13 70560170 70560170 single base substitution T C intron_variant ESAD-UK 13 70560852 70560852 single base substitution A T intron_variant ESAD-UK 13 70561533 70561533 single base substitution T C intron_variant ESAD-UK 13 70561635 70561635 single base substitution A C intron_variant ESAD-UK 13 70562047 70562047 single base substitution A G intron_variant ESAD-UK 13 70562214 70562214 deletion of <=200bp T - intron_variant ESAD-UK 13 70562312 70562312 single base substitution T G intron_variant ESAD-UK 13 70562379 70562379 single base substitution A G intron_variant ESAD-UK 13 70563723 70563723 single base substitution G T intron_variant ESAD-UK 13 70563777 70563777 single base substitution T G intron_variant ESAD-UK 13 70563971 70563971 single base substitution T C intron_variant ESAD-UK 13 70564033 70564033 single base substitution T A intron_variant ESAD-UK 13 70564033 70564033 single base substitution T C intron_variant ESAD-UK 13 70564093 70564093 single base substitution C T intron_variant ESAD-UK 13 70564293 70564293 single base substitution A C intron_variant ESAD-UK 13 70564384 70564384 single base substitution A C intron_variant ESAD-UK 13 70564647 70564647 single base substitution G T intron_variant ESAD-UK 13 70565017 70565017 single base substitution A G intron_variant ESAD-UK 13 70565181 70565181 single base substitution A C intron_variant ESAD-UK 13 70565212 70565212 single base substitution G T intron_variant ESAD-UK 13 70565316 70565316 single base substitution C G intron_variant ESAD-UK 13 70565330 70565330 single base substitution A C intron_variant ESAD-UK 13 70565379 70565379 single base substitution A G intron_variant ESAD-UK 13 70565518 70565518 single base substitution A C intron_variant ESAD-UK 13 70565595 70565595 single base substitution C A intron_variant ESAD-UK 13 70565603 70565603 single base substitution A T intron_variant ESAD-UK 13 70565785 70565785 single base substitution T A intron_variant ESAD-UK 13 70565848 70565848 single base substitution A C intron_variant ESAD-UK 13 70566453 70566453 single base substitution A C intron_variant ESAD-UK 13 70566453 70566453 single base substitution A G intron_variant ESAD-UK 13 70566485 70566485 single base substitution A C intron_variant ESAD-UK 13 70566755 70566755 single base substitution A G intron_variant ESAD-UK 13 70567275 70567275 single base substitution G C intron_variant ESAD-UK 13 70567281 70567281 single base substitution A C intron_variant ESAD-UK 13 70567918 70567918 single base substitution A C intron_variant ESAD-UK 13 70568367 70568367 single base substitution A C intron_variant ESAD-UK 13 70568411 70568411 single base substitution T G intron_variant ESAD-UK 13 70568449 70568449 single base substitution A G intron_variant ESAD-UK 13 70568952 70568952 single base substitution A T intron_variant ESAD-UK 13 70569197 70569197 single base substitution G A intron_variant ESAD-UK 13 70569373 70569373 single base substitution A G intron_variant ESAD-UK 13 70569445 70569445 single base substitution A C intron_variant ESAD-UK 13 70569447 70569447 single base substitution A T intron_variant ESAD-UK 13 70569477 70569477 single base substitution A C intron_variant ESAD-UK 13 70569549 70569549 single base substitution A C intron_variant ESAD-UK 13 70569766 70569766 single base substitution G A intron_variant ESAD-UK 13 70570014 70570014 single base substitution G C intron_variant ESAD-UK 13 70570537 70570537 single base substitution G T intron_variant ESAD-UK 13 70570618 70570618 single base substitution T G intron_variant ESAD-UK 13 70570650 70570650 single base substitution T G intron_variant ESAD-UK 13 70570775 70570775 single base substitution G C intron_variant ESAD-UK 13 70570898 70570898 single base substitution A C intron_variant ESAD-UK 13 70570979 70570979 single base substitution A C intron_variant ESAD-UK 13 70571402 70571402 single base substitution T G intron_variant ESAD-UK 13 70572105 70572105 single base substitution A C intron_variant ESAD-UK 13 70572879 70572879 single base substitution T G intron_variant ESAD-UK 13 70572929 70572929 single base substitution C T intron_variant ESAD-UK 13 70573162 70573162 single base substitution A G intron_variant ESAD-UK 13 70573171 70573171 single base substitution G T intron_variant ESAD-UK 13 70573184 70573184 single base substitution A C intron_variant ESAD-UK 13 70573398 70573398 single base substitution A C intron_variant ESAD-UK 13 70573595 70573595 single base substitution A C intron_variant ESAD-UK 13 70576560 70576560 single base substitution T A intron_variant ESAD-UK 13 70576669 70576669 single base substitution A C intron_variant ESAD-UK 13 70576873 70576873 single base substitution T G intron_variant ESAD-UK 13 70577465 70577465 single base substitution T A intron_variant ESAD-UK 13 70577743 70577743 single base substitution C T intron_variant ESAD-UK 13 70578345 70578345 single base substitution G T intron_variant ESAD-UK 13 70578743 70578743 single base substitution C T intron_variant ESAD-UK 13 70578910 70578910 single base substitution T C intron_variant ESAD-UK 13 70579143 70579143 single base substitution G A intron_variant ESAD-UK 13 70579391 70579391 single base substitution C T intron_variant ESAD-UK 13 70579646 70579646 single base substitution A T intron_variant ESAD-UK 13 70579733 70579733 single base substitution T G intron_variant ESAD-UK 13 70579856 70579856 single base substitution C G intron_variant ESAD-UK 13 70580177 70580177 single base substitution A T intron_variant ESAD-UK 13 70580374 70580374 single base substitution A G intron_variant ESAD-UK 13 70580601 70580601 single base substitution T G intron_variant ESAD-UK 13 70581246 70581246 single base substitution G A intron_variant ESAD-UK 13 70581247 70581247 single base substitution G A intron_variant ESAD-UK 13 70581350 70581350 single base substitution A G intron_variant ESAD-UK 13 70581909 70581909 single base substitution A C intron_variant ESAD-UK 13 70582438 70582438 single base substitution A C intron_variant ESAD-UK 13 70582529 70582529 single base substitution T G intron_variant ESAD-UK 13 70582648 70582648 single base substitution T C intron_variant ESAD-UK 13 70583045 70583045 deletion of <=200bp T - intron_variant ESAD-UK 13 70583400 70583400 single base substitution C G intron_variant ESAD-UK 13 70583524 70583524 single base substitution T C intron_variant ESAD-UK 13 70583627 70583627 single base substitution A G intron_variant ESAD-UK 13 70583631 70583631 single base substitution T G intron_variant ESAD-UK 13 70583658 70583658 single base substitution T G intron_variant ESAD-UK 13 70583714 70583714 single base substitution G A intron_variant ESAD-UK 13 70584179 70584179 single base substitution G A intron_variant ESAD-UK 13 70584216 70584216 single base substitution A C intron_variant ESAD-UK 13 70584398 70584398 single base substitution G T intron_variant ESAD-UK 13 70584503 70584503 single base substitution A T intron_variant ESAD-UK 13 70584625 70584625 single base substitution G T intron_variant ESAD-UK 13 70584862 70584862 single base substitution A G intron_variant ESAD-UK 13 70585545 70585545 single base substitution T C intron_variant ESAD-UK 13 70585689 70585689 single base substitution A G intron_variant ESAD-UK 13 70585715 70585715 single base substitution A G intron_variant ESAD-UK 13 70585867 70585867 single base substitution A C intron_variant ESAD-UK 13 70586261 70586261 single base substitution T C intron_variant ESAD-UK 13 70586481 70586481 single base substitution A G intron_variant ESAD-UK 13 70587152 70587152 single base substitution A G intron_variant ESAD-UK 13 70587152 70587152 single base substitution A T intron_variant ESAD-UK 13 70587884 70587884 single base substitution A C intron_variant ESAD-UK 13 70588102 70588102 single base substitution A G intron_variant ESAD-UK 13 70588135 70588135 single base substitution T G intron_variant ESAD-UK 13 70588144 70588144 single base substitution A C intron_variant ESAD-UK 13 70588582 70588582 single base substitution A C intron_variant ESAD-UK 13 70589339 70589339 single base substitution T C intron_variant ESAD-UK 13 70589736 70589736 single base substitution A T intron_variant ESAD-UK 13 70590177 70590177 single base substitution A C intron_variant ESAD-UK 13 70590453 70590453 single base substitution G C intron_variant ESAD-UK 13 70590506 70590506 single base substitution G A intron_variant ESAD-UK 13 70590533 70590533 single base substitution T C intron_variant ESAD-UK 13 70590573 70590573 single base substitution A G intron_variant ESAD-UK 13 70590844 70590844 single base substitution A C intron_variant ESAD-UK 13 70590920 70590920 single base substitution T G intron_variant ESAD-UK 13 70591448 70591448 single base substitution T A intron_variant ESAD-UK 13 70591691 70591691 single base substitution T C intron_variant ESAD-UK 13 70592102 70592102 single base substitution G A intron_variant ESAD-UK 13 70593059 70593059 single base substitution T G intron_variant ESAD-UK 13 70593065 70593065 single base substitution A G intron_variant ESAD-UK 13 70593152 70593152 single base substitution T G intron_variant ESAD-UK 13 70593219 70593219 single base substitution A C intron_variant ESAD-UK 13 70593233 70593233 single base substitution T G intron_variant ESAD-UK 13 70593669 70593669 single base substitution A G intron_variant ESAD-UK 13 70593806 70593806 single base substitution G T intron_variant ESAD-UK 13 70594459 70594459 single base substitution A C intron_variant ESAD-UK 13 70594695 70594695 single base substitution A G intron_variant ESAD-UK 13 70595079 70595079 single base substitution T A intron_variant ESAD-UK 13 70595336 70595336 single base substitution T A intron_variant ESAD-UK 13 70595345 70595345 single base substitution T G intron_variant ESAD-UK 13 70595408 70595408 single base substitution G A intron_variant ESAD-UK 13 70595890 70595890 single base substitution G C intron_variant ESAD-UK 13 70595913 70595913 single base substitution T G intron_variant ESAD-UK 13 70596405 70596405 single base substitution G A intron_variant ESAD-UK 13 70596453 70596453 single base substitution G T intron_variant ESAD-UK 13 70597101 70597101 single base substitution A C intron_variant ESAD-UK 13 70597101 70597101 single base substitution A G intron_variant ESAD-UK 13 70597257 70597257 single base substitution T C intron_variant ESAD-UK 13 70597366 70597366 single base substitution G A intron_variant ESAD-UK 13 70597378 70597378 single base substitution A T intron_variant ESAD-UK 13 70597625 70597625 single base substitution A G intron_variant ESAD-UK 13 70597705 70597705 single base substitution C A intron_variant ESAD-UK 13 70597981 70597981 single base substitution T G intron_variant ESAD-UK 13 70598022 70598022 single base substitution T G intron_variant ESAD-UK 13 70598262 70598262 single base substitution C T intron_variant ESAD-UK 13 70598416 70598416 single base substitution T C intron_variant ESAD-UK 13 70598676 70598676 single base substitution T C intron_variant ESAD-UK 13 70599053 70599053 single base substitution C A intron_variant ESAD-UK 13 70599262 70599262 single base substitution A G intron_variant ESAD-UK 13 70599616 70599616 single base substitution G C intron_variant ESAD-UK 13 70599876 70599876 single base substitution A C intron_variant ESAD-UK 13 70600693 70600693 single base substitution T G intron_variant ESAD-UK 13 70601528 70601528 insertion of <=200bp - C intron_variant ESAD-UK 13 70601934 70601934 single base substitution C G intron_variant ESAD-UK 13 70602078 70602078 single base substitution T G intron_variant ESAD-UK 13 70602231 70602231 single base substitution A C intron_variant ESAD-UK 13 70602366 70602366 single base substitution T A intron_variant ESAD-UK 13 70602369 70602369 single base substitution G C intron_variant ESAD-UK 13 70602374 70602374 single base substitution A G intron_variant ESAD-UK 13 70602488 70602488 single base substitution G T intron_variant ESAD-UK 13 70602489 70602489 single base substitution A G intron_variant ESAD-UK 13 70605429 70605429 single base substitution T A intron_variant ESAD-UK 13 70605530 70605530 insertion of <=200bp - A intron_variant ESAD-UK 13 70605679 70605679 single base substitution G A intron_variant ESAD-UK 13 70606119 70606119 single base substitution A T intron_variant ESAD-UK 13 70606928 70606928 single base substitution A C intron_variant ESAD-UK 13 70606936 70606936 single base substitution C G intron_variant ESAD-UK 13 70607084 70607084 single base substitution T G intron_variant ESAD-UK 13 70607090 70607090 single base substitution A G intron_variant ESAD-UK 13 70607251 70607251 single base substitution T C intron_variant ESAD-UK 13 70607384 70607384 single base substitution T A intron_variant ESAD-UK 13 70607450 70607450 single base substitution C T intron_variant ESAD-UK 13 70607818 70607818 single base substitution C T intron_variant ESAD-UK 13 70607819 70607819 single base substitution T C intron_variant ESAD-UK 13 70607912 70607912 single base substitution C T intron_variant ESAD-UK 13 70608636 70608636 single base substitution T G intron_variant ESAD-UK 13 70608751 70608751 single base substitution T C intron_variant ESAD-UK 13 70608763 70608763 single base substitution A C intron_variant ESAD-UK 13 70608906 70608906 single base substitution T C intron_variant ESAD-UK 13 70609097 70609097 single base substitution A T intron_variant ESAD-UK 13 70609927 70609927 single base substitution C T intron_variant ESAD-UK 13 70610524 70610524 single base substitution T G intron_variant ESAD-UK 13 70611030 70611030 single base substitution C A intron_variant ESAD-UK 13 70611059 70611059 single base substitution T C intron_variant ESAD-UK 13 70611067 70611067 single base substitution T C intron_variant ESAD-UK 13 70611412 70611412 single base substitution A C intron_variant ESAD-UK 13 70612860 70612860 single base substitution T A intron_variant ESAD-UK 13 70613283 70613283 single base substitution T C intron_variant ESAD-UK 13 70613437 70613437 single base substitution A T intron_variant ESAD-UK 13 70613499 70613499 single base substitution A G intron_variant ESAD-UK 13 70613540 70613540 insertion of <=200bp - T intron_variant ESAD-UK 13 70614778 70614778 single base substitution T C intron_variant ESAD-UK 13 70614876 70614876 single base substitution T G intron_variant ESAD-UK 13 70615118 70615118 single base substitution T C intron_variant ESAD-UK 13 70615264 70615264 single base substitution A T intron_variant ESAD-UK 13 70616394 70616394 single base substitution T C intron_variant ESAD-UK 13 70616596 70616596 single base substitution A C intron_variant ESAD-UK 13 70617389 70617389 single base substitution A G intron_variant ESAD-UK 13 70617490 70617490 single base substitution A C intron_variant ESAD-UK 13 70617490 70617490 single base substitution A G intron_variant ESAD-UK 13 70617521 70617521 single base substitution A G intron_variant ESAD-UK 13 70617526 70617526 single base substitution C A intron_variant ESAD-UK 13 70617642 70617642 single base substitution T G intron_variant ESAD-UK 13 70617839 70617839 single base substitution G A intron_variant ESAD-UK 13 70618041 70618041 single base substitution C A intron_variant ESAD-UK 13 70618654 70618654 single base substitution T C intron_variant ESAD-UK 13 70619143 70619143 single base substitution A C intron_variant ESAD-UK 13 70619271 70619271 single base substitution G A intron_variant ESAD-UK 13 70619843 70619843 single base substitution C G intron_variant ESAD-UK 13 70619894 70619894 single base substitution G T intron_variant ESAD-UK 13 70619904 70619904 single base substitution C T intron_variant ESAD-UK 13 70619920 70619920 single base substitution A C intron_variant ESAD-UK 13 70620016 70620016 single base substitution C T intron_variant ESAD-UK 13 70620898 70620898 single base substitution G T intron_variant ESAD-UK 13 70621104 70621104 single base substitution T G intron_variant ESAD-UK 13 70621653 70621653 single base substitution C T intron_variant ESAD-UK 13 70621787 70621787 single base substitution T C intron_variant ESAD-UK 13 70621823 70621823 single base substitution C A intron_variant ESAD-UK 13 70621840 70621840 single base substitution T A intron_variant ESAD-UK 13 70621841 70621841 deletion of <=200bp A - intron_variant ESAD-UK 13 70622046 70622046 single base substitution T G intron_variant ESAD-UK 13 70622354 70622354 single base substitution G C intron_variant ESAD-UK 13 70622743 70622743 single base substitution G A intron_variant ESAD-UK 13 70623190 70623190 single base substitution C A intron_variant ESAD-UK 13 70623566 70623566 single base substitution G A intron_variant ESAD-UK 13 70624606 70624606 single base substitution T C intron_variant ESAD-UK 13 70625502 70625502 single base substitution T C intron_variant ESAD-UK 13 70625635 70625635 single base substitution A C intron_variant ESAD-UK 13 70625939 70625939 single base substitution A C intron_variant ESAD-UK 13 70626603 70626603 single base substitution T G intron_variant ESAD-UK 13 70626785 70626785 single base substitution A T intron_variant ESAD-UK 13 70627362 70627362 single base substitution G A intron_variant ESAD-UK 13 70627453 70627453 single base substitution G T intron_variant ESAD-UK 13 70628020 70628020 single base substitution G A intron_variant ESAD-UK 13 70628648 70628648 single base substitution A G intron_variant ESAD-UK 13 70629136 70629136 single base substitution A C intron_variant ESAD-UK 13 70629328 70629328 single base substitution A C intron_variant ESAD-UK 13 70629389 70629389 single base substitution C T intron_variant ESAD-UK 13 70629593 70629593 single base substitution A G intron_variant ESAD-UK 13 70629838 70629838 single base substitution T C intron_variant ESAD-UK 13 70629864 70629864 single base substitution A C intron_variant ESAD-UK 13 70631146 70631146 single base substitution A G intron_variant ESAD-UK 13 70631171 70631171 single base substitution A G intron_variant ESAD-UK 13 70631226 70631226 deletion of <=200bp A - intron_variant ESAD-UK 13 70632476 70632476 deletion of <=200bp A - intron_variant ESAD-UK 13 70632822 70632822 single base substitution C T intron_variant ESAD-UK 13 70633249 70633249 single base substitution G A intron_variant ESAD-UK 13 70634049 70634049 single base substitution G A intron_variant ESAD-UK 13 70634209 70634209 single base substitution A G intron_variant ESAD-UK 13 70634294 70634294 single base substitution G T intron_variant ESAD-UK 13 70635135 70635135 single base substitution T A intron_variant ESAD-UK 13 70635243 70635243 single base substitution T G intron_variant ESAD-UK 13 70635975 70635975 single base substitution G T intron_variant ESAD-UK 13 70636087 70636087 single base substitution A C intron_variant ESAD-UK 13 70636568 70636568 single base substitution A G intron_variant ESAD-UK 13 70636571 70636571 single base substitution A G intron_variant ESAD-UK 13 70637510 70637510 single base substitution G A intron_variant ESAD-UK 13 70637740 70637740 single base substitution T C intron_variant ESAD-UK 13 70637768 70637768 single base substitution C T intron_variant ESAD-UK 13 70637998 70637998 single base substitution T A intron_variant ESAD-UK 13 70638893 70638893 single base substitution G T intron_variant ESAD-UK 13 70639352 70639352 single base substitution C G intron_variant ESAD-UK 13 70639442 70639442 single base substitution A C intron_variant ESAD-UK 13 70639447 70639447 single base substitution T A intron_variant ESAD-UK 13 70639447 70639447 single base substitution T C intron_variant ESAD-UK 13 70639786 70639786 single base substitution G T intron_variant ESAD-UK 13 70640016 70640016 single base substitution G A intron_variant ESAD-UK 13 70640134 70640134 single base substitution A T intron_variant ESAD-UK 13 70640342 70640342 single base substitution T G intron_variant ESAD-UK 13 70640921 70640921 single base substitution G T intron_variant ESAD-UK 13 70641877 70641877 single base substitution C A intron_variant ESAD-UK 13 70642126 70642126 single base substitution T A intron_variant ESAD-UK 13 70643058 70643058 single base substitution G T intron_variant ESAD-UK 13 70643228 70643228 single base substitution A G intron_variant ESAD-UK 13 70643430 70643430 single base substitution G C intron_variant ESAD-UK 13 70644011 70644011 single base substitution G T intron_variant ESAD-UK 13 70644415 70644415 single base substitution T A intron_variant ESAD-UK 13 70644528 70644528 single base substitution A G intron_variant ESAD-UK 13 70644610 70644610 single base substitution A C intron_variant ESAD-UK 13 70644973 70644973 single base substitution A C intron_variant ESAD-UK 13 70645030 70645030 deletion of <=200bp T - intron_variant ESAD-UK 13 70645037 70645037 single base substitution T A intron_variant ESAD-UK 13 70645279 70645279 single base substitution T C intron_variant ESAD-UK 13 70647077 70647077 single base substitution T C intron_variant ESAD-UK 13 70647999 70647999 single base substitution C T intron_variant ESAD-UK 13 70648412 70648412 single base substitution G A intron_variant ESAD-UK 13 70648694 70648694 single base substitution C A intron_variant ESAD-UK 13 70649164 70649164 single base substitution G T intron_variant ESAD-UK 13 70649822 70649822 single base substitution C T intron_variant ESAD-UK 13 70649943 70649943 single base substitution T G intron_variant ESAD-UK 13 70649964 70649964 single base substitution C A intron_variant ESAD-UK 13 70650336 70650336 single base substitution G A intron_variant ESAD-UK 13 70650411 70650411 single base substitution A C intron_variant ESAD-UK 13 70650426 70650426 single base substitution A G intron_variant ESAD-UK 13 70650784 70650784 single base substitution T G intron_variant ESAD-UK 13 70651373 70651373 single base substitution G T intron_variant ESAD-UK 13 70652546 70652546 single base substitution T A intron_variant ESAD-UK 13 70652972 70652972 single base substitution T C intron_variant ESAD-UK 13 70653236 70653236 single base substitution A T intron_variant ESAD-UK 13 70653275 70653275 single base substitution T G intron_variant ESAD-UK 13 70653305 70653305 single base substitution G A intron_variant ESAD-UK 13 70654155 70654155 single base substitution A G intron_variant ESAD-UK 13 70654230 70654230 single base substitution T C intron_variant ESAD-UK 13 70654968 70654968 single base substitution A G intron_variant ESAD-UK 13 70655403 70655403 single base substitution C A intron_variant ESAD-UK 13 70655469 70655469 single base substitution T C intron_variant ESAD-UK 13 70656058 70656058 single base substitution T G intron_variant ESAD-UK 13 70656534 70656534 single base substitution A G intron_variant ESAD-UK 13 70657853 70657853 single base substitution G A intron_variant ESAD-UK 13 70658842 70658842 single base substitution C T intron_variant ESAD-UK 13 70659039 70659039 single base substitution C T intron_variant ESAD-UK 13 70659040 70659040 single base substitution G A intron_variant ESAD-UK 13 70659079 70659079 single base substitution A G intron_variant ESAD-UK 13 70659921 70659921 single base substitution G A intron_variant ESAD-UK 13 70660037 70660037 single base substitution A G intron_variant ESAD-UK 13 70660264 70660264 single base substitution A G intron_variant ESAD-UK 13 70660266 70660266 single base substitution T C intron_variant ESAD-UK 13 70660330 70660330 single base substitution G A intron_variant ESAD-UK 13 70660431 70660431 single base substitution C G intron_variant ESAD-UK 13 70661020 70661020 single base substitution G T intron_variant ESAD-UK 13 70661779 70661779 single base substitution T C intron_variant ESAD-UK 13 70661780 70661780 single base substitution T A intron_variant ESAD-UK 13 70662878 70662878 single base substitution A C intron_variant ESAD-UK 13 70663237 70663237 single base substitution T G intron_variant ESAD-UK 13 70663574 70663574 single base substitution T A intron_variant ESAD-UK 13 70663789 70663789 single base substitution A C intron_variant ESAD-UK 13 70663960 70663960 single base substitution C A intron_variant ESAD-UK 13 70664070 70664070 single base substitution A C intron_variant ESAD-UK 13 70664229 70664229 single base substitution T A intron_variant ESAD-UK 13 70665080 70665080 single base substitution T G intron_variant ESAD-UK 13 70665437 70665437 single base substitution C A intron_variant ESAD-UK 13 70665668 70665668 single base substitution T G intron_variant ESAD-UK 13 70665756 70665756 single base substitution T G intron_variant ESAD-UK 13 70665795 70665795 single base substitution A C intron_variant ESAD-UK 13 70665857 70665857 single base substitution G A intron_variant ESAD-UK 13 70665879 70665879 single base substitution A C intron_variant ESAD-UK 13 70666034 70666034 single base substitution T C intron_variant ESAD-UK 13 70666159 70666159 single base substitution A G intron_variant ESAD-UK 13 70666364 70666364 single base substitution A C intron_variant ESAD-UK 13 70666654 70666654 single base substitution T G intron_variant ESAD-UK 13 70666730 70666730 single base substitution G A intron_variant ESAD-UK 13 70667376 70667376 single base substitution T G intron_variant ESAD-UK 13 70667437 70667437 single base substitution T A intron_variant ESAD-UK 13 70667438 70667438 single base substitution C A intron_variant ESAD-UK 13 70667455 70667455 single base substitution T C intron_variant ESAD-UK 13 70667543 70667543 single base substitution G A intron_variant ESAD-UK 13 70668526 70668526 insertion of <=200bp - TA intron_variant ESAD-UK 13 70669228 70669228 single base substitution G C intron_variant ESAD-UK 13 70669313 70669313 single base substitution G A intron_variant ESAD-UK 13 70669492 70669492 single base substitution T C intron_variant ESAD-UK 13 70669721 70669721 single base substitution T A intron_variant ESAD-UK 13 70669962 70669962 deletion of <=200bp C - intron_variant ESAD-UK 13 70671027 70671027 single base substitution A C intron_variant ESAD-UK 13 70672233 70672233 single base substitution A T intron_variant ESAD-UK 13 70672623 70672623 single base substitution G A intron_variant ESAD-UK 13 70672983 70672983 single base substitution A G intron_variant ESAD-UK 13 70673267 70673267 single base substitution A G intron_variant ESAD-UK 13 70673878 70673882 deletion of <=200bp TAAAC - intron_variant ESAD-UK 13 70674205 70674205 deletion of <=200bp A - intron_variant ESAD-UK 13 70674379 70674379 single base substitution C A intron_variant ESAD-UK 13 70674531 70674531 deletion of <=200bp A - intron_variant ESAD-UK 13 70674655 70674655 single base substitution C T intron_variant ESAD-UK 13 70674776 70674776 single base substitution C G intron_variant ESAD-UK 13 70675169 70675169 single base substitution G A intron_variant ESAD-UK 13 70675708 70675708 single base substitution T C intron_variant ESAD-UK 13 70675720 70675720 single base substitution T C intron_variant ESAD-UK 13 70675798 70675798 single base substitution C T intron_variant ESAD-UK 13 70676920 70676920 single base substitution C T intron_variant ESAD-UK 13 70677591 70677591 single base substitution A C intron_variant ESAD-UK 13 70677622 70677622 single base substitution T G intron_variant ESAD-UK 13 70677840 70677840 single base substitution G A intron_variant ESAD-UK 13 70679061 70679061 single base substitution A C intron_variant ESAD-UK 13 70679212 70679212 single base substitution T A intron_variant ESAD-UK 13 70679522 70679522 single base substitution T A intron_variant ESAD-UK 13 70679726 70679726 single base substitution T G intron_variant ESAD-UK 13 70679780 70679780 single base substitution G T intron_variant ESAD-UK 13 70679855 70679855 single base substitution A G intron_variant ESAD-UK 13 70680537 70680537 single base substitution T C intron_variant ESAD-UK 13 70681326 70681326 single base substitution T G intron_variant ESAD-UK 13 70681728 70681728 deletion of <=200bp C - 5_prime_UTR_variant ESAD-UK 13 70681728 70681728 deletion of <=200bp C - frameshift_variant G35 ESAD-UK 13 70681904 70681904 single base substitution C T 5_prime_UTR_variant ESAD-UK 13 70681904 70681904 single base substitution C T upstream_gene_variant ESAD-UK 13 70682236 70682236 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 13 70682236 70682236 single base substitution C A upstream_gene_variant ESAD-UK 13 70682579 70682579 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 13 70682579 70682579 single base substitution C T upstream_gene_variant ESAD-UK 13 70683290 70683290 single base substitution G A upstream_gene_variant ESAD-UK 13 70683317 70683317 single base substitution G T upstream_gene_variant ESAD-UK 13 70683584 70683584 single base substitution T G upstream_gene_variant ESAD-UK 13 70684149 70684149 single base substitution T G upstream_gene_variant ESAD-UK 13 70684251 70684251 single base substitution C A upstream_gene_variant ESAD-UK 13 70684373 70684373 single base substitution G T upstream_gene_variant ESAD-UK 13 70686166 70686166 single base substitution T C upstream_gene_variant ESAD-UK 13 70686409 70686409 single base substitution T A upstream_gene_variant ESAD-UK 13 70686913 70686913 single base substitution C A upstream_gene_variant ESCA-CN 13 70281870 70281870 single base substitution C T missense_variant A499T 1495G>A ESCA-CN 13 70281870 70281870 single base substitution C T missense_variant A692T 2074G>A ESCA-CN 13 70293605 70293605 single base substitution T A missense_variant R444S 1332A>T ESCA-CN 13 70293605 70293605 single base substitution T A missense_variant R637S 1911A>T ESCA-CN 13 70314563 70314563 single base substitution C A missense_variant A396S 1186G>T ESCA-CN 13 70314563 70314563 single base substitution C A missense_variant A589S 1765G>T GBM-US 13 70314591 70314591 single base substitution T C synonymous_variant Q386Q 1158A>G GBM-US 13 70314591 70314591 single base substitution T C synonymous_variant Q579Q 1737A>G GBM-US 13 70535514 70535514 single base substitution G A missense_variant A248V 743C>T GBM-US 13 70535514 70535514 single base substitution G A missense_variant A55V 164C>T GBM-US 13 70681808 70681808 single base substitution G T 5_prime_UTR_variant GBM-US 13 70681808 70681808 single base substitution G T missense_variant D8E 24C>A KIRC-US 13 70281831 70281831 single base substitution C T missense_variant V512I 1534G>A KIRC-US 13 70281831 70281831 single base substitution C T missense_variant V705I 2113G>A KIRC-US 13 70681442 70681442 single base substitution C A 5_prime_UTR_variant KIRC-US 13 70681442 70681442 single base substitution C A synonymous_variant V130V 390G>T KIRP-US 13 70549759 70549759 single base substitution C G intron_variant KIRP-US 13 70549759 70549759 single base substitution C G missense_variant A225P 673G>C LAML-KR 13 70310822 70310822 single base substitution G A intron_variant LAML-KR 13 70429465 70429465 single base substitution T C intron_variant LAML-KR 13 70507897 70507897 single base substitution A G intron_variant LAML-KR 13 70550028 70550028 single base substitution T A intron_variant LAML-KR 13 70626206 70626206 single base substitution C T intron_variant LAML-KR 13 70668504 70668504 single base substitution A G intron_variant LICA-CN 13 70293541 70293541 single base substitution C A missense_variant A466S 1396G>T LICA-CN 13 70293541 70293541 single base substitution C A missense_variant A659S 1975G>T LICA-CN 13 70293578 70293578 single base substitution G A synonymous_variant D453D 1359C>T LICA-CN 13 70293578 70293578 single base substitution G A synonymous_variant D646D 1938C>T LICA-FR 13 70269747 70269747 single base substitution A T downstream_gene_variant LICA-FR 13 70279951 70279951 single base substitution A G intron_variant LICA-FR 13 70284151 70284151 single base substitution T C intron_variant LICA-FR 13 70294912 70294912 deletion of <=200bp A - intron_variant LICA-FR 13 70301003 70301003 single base substitution T G intron_variant LICA-FR 13 70309070 70309070 single base substitution T A intron_variant LICA-FR 13 70319967 70319967 single base substitution T C intron_variant LICA-FR 13 70324450 70324450 single base substitution A T intron_variant LICA-FR 13 70332678 70332678 single base substitution C T intron_variant LICA-FR 13 70355983 70355983 single base substitution T C intron_variant LICA-FR 13 70358622 70358622 single base substitution A G intron_variant LICA-FR 13 70358735 70358735 single base substitution G T intron_variant LICA-FR 13 70361298 70361298 single base substitution G A intron_variant LICA-FR 13 70361391 70361391 single base substitution A C intron_variant LICA-FR 13 70362429 70362429 single base substitution A G intron_variant LICA-FR 13 70364493 70364493 single base substitution C T intron_variant LICA-FR 13 70372811 70372811 single base substitution A G intron_variant LICA-FR 13 70373058 70373058 single base substitution A C intron_variant LICA-FR 13 70376673 70376673 single base substitution C A intron_variant LICA-FR 13 70387614 70387614 insertion of <=200bp - ACACAC intron_variant LICA-FR 13 70390012 70390012 single base substitution T A intron_variant LICA-FR 13 70397785 70397785 single base substitution C A intron_variant LICA-FR 13 70398533 70398533 single base substitution A G intron_variant LICA-FR 13 70408272 70408272 single base substitution A G intron_variant LICA-FR 13 70416477 70416477 single base substitution C A intron_variant LICA-FR 13 70441592 70441592 single base substitution T C intron_variant LICA-FR 13 70450542 70450542 single base substitution A G intron_variant LICA-FR 13 70456452 70456452 single base substitution A G missense_variant L204P 611T>C LICA-FR 13 70456452 70456452 single base substitution A G missense_variant L397P 1190T>C LICA-FR 13 70470803 70470803 deletion of <=200bp T - intron_variant LICA-FR 13 70475923 70475927 deletion of <=200bp TTTTC - intron_variant LICA-FR 13 70479706 70479706 single base substitution A G intron_variant LICA-FR 13 70484627 70484627 single base substitution T C intron_variant LICA-FR 13 70490263 70490263 single base substitution C T intron_variant LICA-FR 13 70494813 70494813 single base substitution T A intron_variant LICA-FR 13 70498099 70498099 single base substitution A G intron_variant LICA-FR 13 70503272 70503272 single base substitution A G intron_variant LICA-FR 13 70504826 70504826 single base substitution A G intron_variant LICA-FR 13 70515811 70515811 single base substitution G A intron_variant LICA-FR 13 70526730 70526730 single base substitution C G intron_variant LICA-FR 13 70527318 70527318 single base substitution C T intron_variant LICA-FR 13 70527466 70527466 single base substitution A T intron_variant LICA-FR 13 70531804 70531804 single base substitution A T intron_variant LICA-FR 13 70543180 70543180 single base substitution T C intron_variant LICA-FR 13 70545361 70545361 single base substitution A G intron_variant LICA-FR 13 70557721 70557721 single base substitution A G intron_variant LICA-FR 13 70562222 70562222 single base substitution G T intron_variant LICA-FR 13 70577903 70577903 single base substitution T A intron_variant LICA-FR 13 70585092 70585092 single base substitution G A intron_variant LICA-FR 13 70598776 70598776 single base substitution C T intron_variant LICA-FR 13 70600929 70600929 single base substitution A T intron_variant LICA-FR 13 70601785 70601785 insertion of <=200bp - TTTTTTTT intron_variant LICA-FR 13 70607964 70607964 single base substitution C T intron_variant LICA-FR 13 70609858 70609858 single base substitution T C intron_variant LICA-FR 13 70627136 70627136 single base substitution T C intron_variant LICA-FR 13 70628403 70628403 single base substitution G A intron_variant LICA-FR 13 70636523 70636523 single base substitution A C intron_variant LICA-FR 13 70640017 70640017 insertion of <=200bp - A intron_variant LICA-FR 13 70649706 70649706 single base substitution T C intron_variant LICA-FR 13 70653349 70653349 single base substitution A G intron_variant LICA-FR 13 70659020 70659020 single base substitution A G intron_variant LICA-FR 13 70661345 70661345 single base substitution G A intron_variant LICA-FR 13 70662259 70662259 single base substitution A G intron_variant LICA-FR 13 70676725 70676725 single base substitution G C intron_variant LICA-FR 13 70681419 70681419 single base substitution G T missense_variant P138Q 413C>A LICA-FR 13 70681419 70681419 single base substitution G T missense_variant P6Q 17C>A LICA-FR 13 70682922 70682922 single base substitution C T upstream_gene_variant LIHC-US 13 70293586 70293586 single base substitution T C missense_variant T451A 1351A>G LIHC-US 13 70293586 70293586 single base substitution T C missense_variant T644A 1930A>G LIHC-US 13 70456494 70456494 single base substitution A C missense_variant V190G 569T>G LIHC-US 13 70456494 70456494 single base substitution A C missense_variant V383G 1148T>G LIHC-US 13 70535471 70535471 single base substitution A G synonymous_variant A262A 786T>C LIHC-US 13 70535471 70535471 single base substitution A G synonymous_variant A69A 207T>C LIHC-US 13 70549804 70549804 single base substitution G A intron_variant LIHC-US 13 70549804 70549804 single base substitution G A stop_gained Q210* 628C>T LINC-JP 13 70297991 70297991 single base substitution C T intron_variant LINC-JP 13 70299084 70299084 single base substitution T C intron_variant LINC-JP 13 70314663 70314663 single base substitution A C missense_variant I362M 1086T>G LINC-JP 13 70314663 70314663 single base substitution A C missense_variant I555M 1665T>G LINC-JP 13 70318781 70318781 single base substitution G A intron_variant LINC-JP 13 70322083 70322083 single base substitution A G intron_variant LINC-JP 13 70328146 70328146 single base substitution T G intron_variant LINC-JP 13 70328147 70328147 single base substitution G T intron_variant LINC-JP 13 70353478 70353478 single base substitution C T intron_variant LINC-JP 13 70379662 70379662 single base substitution A G intron_variant LINC-JP 13 70383154 70383154 single base substitution A G intron_variant LINC-JP 13 70385792 70385792 single base substitution T C intron_variant LINC-JP 13 70387491 70387491 single base substitution G T intron_variant LINC-JP 13 70393639 70393639 single base substitution G A intron_variant LINC-JP 13 70393750 70393750 deletion of <=200bp A - intron_variant LINC-JP 13 70398116 70398116 single base substitution G A intron_variant LINC-JP 13 70400130 70400130 single base substitution A G intron_variant LINC-JP 13 70400131 70400131 single base substitution G A intron_variant LINC-JP 13 70404923 70404923 single base substitution A T intron_variant LINC-JP 13 70416825 70416825 single base substitution C T intron_variant LINC-JP 13 70421361 70421361 single base substitution T A intron_variant LINC-JP 13 70426898 70426898 single base substitution A G intron_variant LINC-JP 13 70427614 70427614 single base substitution G C intron_variant LINC-JP 13 70429936 70429936 single base substitution C T intron_variant LINC-JP 13 70441172 70441172 deletion of <=200bp C - intron_variant LINC-JP 13 70443263 70443263 single base substitution G A intron_variant LINC-JP 13 70445319 70445319 single base substitution C T intron_variant LINC-JP 13 70453988 70453988 single base substitution T A intron_variant LINC-JP 13 70455825 70455825 single base substitution C A intron_variant LINC-JP 13 70458558 70458558 single base substitution C A intron_variant LINC-JP 13 70459568 70459568 single base substitution T C intron_variant LINC-JP 13 70459569 70459569 single base substitution C T intron_variant LINC-JP 13 70467838 70467838 single base substitution T A intron_variant LINC-JP 13 70469664 70469664 single base substitution A G intron_variant LINC-JP 13 70478089 70478089 insertion of <=200bp - T intron_variant LINC-JP 13 70480147 70480147 single base substitution G A intron_variant LINC-JP 13 70482611 70482611 single base substitution G A intron_variant LINC-JP 13 70496984 70496984 single base substitution T C intron_variant LINC-JP 13 70505275 70505275 single base substitution T G intron_variant LINC-JP 13 70505276 70505276 single base substitution C A intron_variant LINC-JP 13 70509449 70509449 single base substitution T C intron_variant LINC-JP 13 70518703 70518703 single base substitution G A intron_variant LINC-JP 13 70521681 70521681 single base substitution T C intron_variant LINC-JP 13 70524447 70524447 single base substitution A C intron_variant LINC-JP 13 70524908 70524908 single base substitution A T intron_variant LINC-JP 13 70532824 70532824 single base substitution T C intron_variant LINC-JP 13 70535478 70535478 single base substitution G T missense_variant P260H 779C>A LINC-JP 13 70535478 70535478 single base substitution G T missense_variant P67H 200C>A LINC-JP 13 70545281 70545281 single base substitution A G intron_variant LINC-JP 13 70546250 70546250 single base substitution T C intron_variant LINC-JP 13 70549637 70549646 deletion of <=200bp TTAAAAAAAT - intron_variant LINC-JP 13 70549671 70549671 single base substitution A G intron_variant LINC-JP 13 70549705 70549705 deletion of <=200bp T - intron_variant LINC-JP 13 70549829 70549829 single base substitution C G intron_variant LINC-JP 13 70549829 70549829 single base substitution C G missense_variant K201N 603G>C LINC-JP 13 70550015 70550015 single base substitution G A intron_variant LINC-JP 13 70550634 70550634 single base substitution T C intron_variant LINC-JP 13 70552665 70552665 single base substitution T C intron_variant LINC-JP 13 70555519 70555519 insertion of <=200bp - T intron_variant LINC-JP 13 70558605 70558605 single base substitution T C intron_variant LINC-JP 13 70559767 70559767 single base substitution A G intron_variant LINC-JP 13 70560135 70560135 single base substitution G A intron_variant LINC-JP 13 70563291 70563291 single base substitution G A intron_variant LINC-JP 13 70576256 70576256 single base substitution C A intron_variant LINC-JP 13 70576560 70576560 single base substitution T A intron_variant LINC-JP 13 70577575 70577575 single base substitution T C intron_variant LINC-JP 13 70580650 70580650 single base substitution C T intron_variant LINC-JP 13 70583515 70583515 single base substitution G T intron_variant LINC-JP 13 70589390 70589390 single base substitution A T intron_variant LINC-JP 13 70596894 70596894 single base substitution A G intron_variant LINC-JP 13 70607213 70607213 single base substitution A G intron_variant LINC-JP 13 70608060 70608060 single base substitution C T intron_variant LINC-JP 13 70608508 70608508 single base substitution G A intron_variant LINC-JP 13 70618180 70618180 single base substitution T C intron_variant LINC-JP 13 70620352 70620352 deletion of <=200bp A - intron_variant LINC-JP 13 70621127 70621127 single base substitution T G intron_variant LINC-JP 13 70623772 70623772 single base substitution G T intron_variant LINC-JP 13 70623904 70623904 single base substitution G T intron_variant LINC-JP 13 70627990 70627990 single base substitution A T intron_variant LINC-JP 13 70652501 70652501 single base substitution G A intron_variant LINC-JP 13 70659832 70659832 single base substitution T G intron_variant LINC-JP 13 70659853 70659853 single base substitution G C intron_variant LINC-JP 13 70662676 70662676 single base substitution A G intron_variant LINC-JP 13 70663576 70663576 single base substitution G A intron_variant LINC-JP 13 70666426 70666426 single base substitution C T intron_variant LINC-JP 13 70668183 70668183 single base substitution T C intron_variant LINC-JP 13 70674078 70674078 single base substitution C A intron_variant LINC-JP 13 70674366 70674366 single base substitution G T intron_variant LINC-JP 13 70680048 70680048 single base substitution A T intron_variant LINC-JP 13 70682454 70682454 single base substitution T C 5_prime_UTR_variant LINC-JP 13 70682454 70682454 single base substitution T C upstream_gene_variant LIRI-JP 13 70270841 70270841 single base substitution T A downstream_gene_variant LIRI-JP 13 70273743 70273743 single base substitution A G downstream_gene_variant LIRI-JP 13 70275549 70275549 single base substitution G C 3_prime_UTR_variant LIRI-JP 13 70275549 70275549 single base substitution G C downstream_gene_variant LIRI-JP 13 70276500 70276500 single base substitution A T intron_variant LIRI-JP 13 70279819 70279819 single base substitution A G intron_variant LIRI-JP 13 70280799 70280799 deletion of <=200bp G - intron_variant LIRI-JP 13 70282638 70282638 single base substitution A C intron_variant LIRI-JP 13 70283247 70283247 single base substitution A G intron_variant LIRI-JP 13 70283800 70283800 single base substitution T A intron_variant LIRI-JP 13 70283950 70283950 single base substitution G T intron_variant LIRI-JP 13 70285262 70285262 single base substitution G A intron_variant LIRI-JP 13 70286489 70286489 single base substitution T A intron_variant LIRI-JP 13 70286593 70286593 single base substitution G T intron_variant LIRI-JP 13 70288603 70288603 single base substitution C T intron_variant LIRI-JP 13 70290278 70290278 deletion of <=200bp G - intron_variant LIRI-JP 13 70292218 70292218 single base substitution C T intron_variant LIRI-JP 13 70295234 70295234 single base substitution G T intron_variant LIRI-JP 13 70295775 70295775 single base substitution G T intron_variant LIRI-JP 13 70296069 70296069 single base substitution C T intron_variant LIRI-JP 13 70296148 70296148 single base substitution C T intron_variant LIRI-JP 13 70298488 70298488 single base substitution A T intron_variant LIRI-JP 13 70299677 70299677 single base substitution T C intron_variant LIRI-JP 13 70299828 70299828 single base substitution T C intron_variant LIRI-JP 13 70300385 70300385 single base substitution T C intron_variant LIRI-JP 13 70300930 70300930 single base substitution G T intron_variant LIRI-JP 13 70301409 70301409 single base substitution T A intron_variant LIRI-JP 13 70302119 70302119 single base substitution G C intron_variant LIRI-JP 13 70302150 70302150 single base substitution G A intron_variant LIRI-JP 13 70303880 70303880 single base substitution C G intron_variant LIRI-JP 13 70304174 70304174 single base substitution G C intron_variant LIRI-JP 13 70304612 70304612 single base substitution T C intron_variant LIRI-JP 13 70307222 70307222 single base substitution A G intron_variant LIRI-JP 13 70307280 70307280 single base substitution T C intron_variant LIRI-JP 13 70307816 70307816 single base substitution T A intron_variant LIRI-JP 13 70308221 70308221 single base substitution G T intron_variant LIRI-JP 13 70308481 70308481 single base substitution A T intron_variant LIRI-JP 13 70309835 70309835 single base substitution T C intron_variant LIRI-JP 13 70310298 70310298 single base substitution A G intron_variant LIRI-JP 13 70310380 70310380 single base substitution A G intron_variant LIRI-JP 13 70310804 70310804 single base substitution A G intron_variant LIRI-JP 13 70311480 70311480 single base substitution T A intron_variant LIRI-JP 13 70311566 70311566 single base substitution C G intron_variant LIRI-JP 13 70314234 70314234 single base substitution A G intron_variant LIRI-JP 13 70314539 70314550 deletion of <=200bp CTGCTACACCAA - disruptive_inframe_deletion VGVAA400A LIRI-JP 13 70314539 70314550 deletion of <=200bp CTGCTACACCAA - disruptive_inframe_deletion VGVAA593A LIRI-JP 13 70315267 70315267 single base substitution A G intron_variant LIRI-JP 13 70315311 70315311 single base substitution T A intron_variant LIRI-JP 13 70316970 70316970 single base substitution G A intron_variant LIRI-JP 13 70319209 70319209 single base substitution A T intron_variant LIRI-JP 13 70319525 70319525 single base substitution A G intron_variant LIRI-JP 13 70320167 70320167 single base substitution T C intron_variant LIRI-JP 13 70321440 70321440 single base substitution A G intron_variant LIRI-JP 13 70322214 70322214 single base substitution A T intron_variant LIRI-JP 13 70324022 70324022 single base substitution A G intron_variant LIRI-JP 13 70325780 70325780 single base substitution G C intron_variant LIRI-JP 13 70326876 70326876 single base substitution T A intron_variant LIRI-JP 13 70327744 70327744 single base substitution T C intron_variant LIRI-JP 13 70328904 70328904 single base substitution C T intron_variant LIRI-JP 13 70328949 70328949 single base substitution T C intron_variant LIRI-JP 13 70329362 70329362 single base substitution C G intron_variant LIRI-JP 13 70330329 70330329 single base substitution G A intron_variant LIRI-JP 13 70330567 70330567 single base substitution C T intron_variant LIRI-JP 13 70331303 70331303 single base substitution C T intron_variant LIRI-JP 13 70331797 70331797 single base substitution A G intron_variant LIRI-JP 13 70332394 70332394 single base substitution G C intron_variant LIRI-JP 13 70332625 70332625 single base substitution A C intron_variant LIRI-JP 13 70333460 70333460 single base substitution G T intron_variant LIRI-JP 13 70333870 70333870 single base substitution A G intron_variant LIRI-JP 13 70334333 70334333 single base substitution C G intron_variant LIRI-JP 13 70335104 70335104 single base substitution T C intron_variant LIRI-JP 13 70335469 70335469 single base substitution G A intron_variant LIRI-JP 13 70335800 70335800 single base substitution A T intron_variant LIRI-JP 13 70335835 70335835 single base substitution T C intron_variant LIRI-JP 13 70336276 70336276 single base substitution T C intron_variant LIRI-JP 13 70336463 70336463 single base substitution T C intron_variant LIRI-JP 13 70336790 70336790 single base substitution A G intron_variant LIRI-JP 13 70337058 70337058 single base substitution T C intron_variant LIRI-JP 13 70337506 70337506 single base substitution C G intron_variant LIRI-JP 13 70337890 70337890 single base substitution A T intron_variant LIRI-JP 13 70338325 70338325 single base substitution C A intron_variant LIRI-JP 13 70339414 70339414 single base substitution C A intron_variant LIRI-JP 13 70340184 70340184 single base substitution A G intron_variant LIRI-JP 13 70340507 70340507 single base substitution C G intron_variant LIRI-JP 13 70342048 70342048 single base substitution T C intron_variant LIRI-JP 13 70344005 70344005 single base substitution A T intron_variant LIRI-JP 13 70345310 70345310 single base substitution A G intron_variant LIRI-JP 13 70345713 70345713 single base substitution A G intron_variant LIRI-JP 13 70345796 70345796 single base substitution C T intron_variant LIRI-JP 13 70346011 70346011 single base substitution A G intron_variant LIRI-JP 13 70346319 70346319 single base substitution A G intron_variant LIRI-JP 13 70347801 70347801 single base substitution G A intron_variant LIRI-JP 13 70349347 70349347 single base substitution A G intron_variant LIRI-JP 13 70349480 70349480 single base substitution A G intron_variant LIRI-JP 13 70350504 70350504 single base substitution G A intron_variant LIRI-JP 13 70350788 70350788 single base substitution T C intron_variant LIRI-JP 13 70352866 70352866 single base substitution T C intron_variant LIRI-JP 13 70354442 70354442 single base substitution T C intron_variant LIRI-JP 13 70360468 70360468 single base substitution G T intron_variant LIRI-JP 13 70360882 70360882 single base substitution A G intron_variant LIRI-JP 13 70363796 70363796 deletion of <=200bp A - intron_variant LIRI-JP 13 70364257 70364257 single base substitution T C intron_variant LIRI-JP 13 70365257 70365257 single base substitution G T intron_variant LIRI-JP 13 70365515 70365515 single base substitution A T intron_variant LIRI-JP 13 70365955 70365955 single base substitution A G intron_variant LIRI-JP 13 70366381 70366381 single base substitution C A intron_variant LIRI-JP 13 70367604 70367604 single base substitution T A intron_variant LIRI-JP 13 70369174 70369174 single base substitution C T intron_variant LIRI-JP 13 70369976 70369976 single base substitution G A intron_variant LIRI-JP 13 70370243 70370243 single base substitution A G intron_variant LIRI-JP 13 70371321 70371321 single base substitution C A intron_variant LIRI-JP 13 70373124 70373124 single base substitution G A intron_variant LIRI-JP 13 70373868 70373868 single base substitution A G intron_variant LIRI-JP 13 70374685 70374685 single base substitution A C intron_variant LIRI-JP 13 70375717 70375717 single base substitution T C intron_variant LIRI-JP 13 70379990 70379990 single base substitution A G intron_variant LIRI-JP 13 70380126 70380126 single base substitution T C intron_variant LIRI-JP 13 70380238 70380238 single base substitution C A intron_variant LIRI-JP 13 70381945 70381945 single base substitution C T intron_variant LIRI-JP 13 70382120 70382120 single base substitution C G intron_variant LIRI-JP 13 70382473 70382473 single base substitution G T intron_variant LIRI-JP 13 70383205 70383205 single base substitution A G intron_variant LIRI-JP 13 70384023 70384023 single base substitution G A intron_variant LIRI-JP 13 70387818 70387818 single base substitution A G intron_variant LIRI-JP 13 70389398 70389398 single base substitution C T intron_variant LIRI-JP 13 70389434 70389434 single base substitution C A intron_variant LIRI-JP 13 70389603 70389603 single base substitution C T intron_variant LIRI-JP 13 70389635 70389635 single base substitution T C intron_variant LIRI-JP 13 70389754 70389754 single base substitution G T intron_variant LIRI-JP 13 70391217 70391217 single base substitution C G intron_variant LIRI-JP 13 70391572 70391572 single base substitution C A intron_variant LIRI-JP 13 70391585 70391585 single base substitution T C intron_variant LIRI-JP 13 70393318 70393318 single base substitution A G intron_variant LIRI-JP 13 70394296 70394297 deletion of <=200bp TG - intron_variant LIRI-JP 13 70395207 70395207 single base substitution A G intron_variant LIRI-JP 13 70395216 70395216 single base substitution T C intron_variant LIRI-JP 13 70395476 70395476 single base substitution T G intron_variant LIRI-JP 13 70396918 70396918 single base substitution A G intron_variant LIRI-JP 13 70398058 70398058 single base substitution A T intron_variant LIRI-JP 13 70400055 70400055 single base substitution A G intron_variant LIRI-JP 13 70400410 70400410 single base substitution T C intron_variant LIRI-JP 13 70401213 70401213 single base substitution A T intron_variant LIRI-JP 13 70402929 70402929 single base substitution C T intron_variant LIRI-JP 13 70404607 70404607 single base substitution A T intron_variant LIRI-JP 13 70405152 70405152 single base substitution A T intron_variant LIRI-JP 13 70406280 70406280 single base substitution G A intron_variant LIRI-JP 13 70406728 70406728 single base substitution C A intron_variant LIRI-JP 13 70406865 70406865 single base substitution A T intron_variant LIRI-JP 13 70408735 70408735 single base substitution C A intron_variant LIRI-JP 13 70409050 70409050 single base substitution T C intron_variant LIRI-JP 13 70409607 70409607 single base substitution G A intron_variant LIRI-JP 13 70409625 70409625 single base substitution A G intron_variant LIRI-JP 13 70410127 70410127 single base substitution G T intron_variant LIRI-JP 13 70411550 70411550 single base substitution C T intron_variant LIRI-JP 13 70411943 70411943 single base substitution T C intron_variant LIRI-JP 13 70413018 70413018 single base substitution G A intron_variant LIRI-JP 13 70414354 70414354 single base substitution A G intron_variant LIRI-JP 13 70414825 70414825 single base substitution T C intron_variant LIRI-JP 13 70414870 70414870 single base substitution A G intron_variant LIRI-JP 13 70416580 70416580 single base substitution A G intron_variant LIRI-JP 13 70417481 70417481 single base substitution T C intron_variant LIRI-JP 13 70419222 70419222 single base substitution A T intron_variant LIRI-JP 13 70421071 70421071 single base substitution A G intron_variant LIRI-JP 13 70425867 70425867 single base substitution G A intron_variant LIRI-JP 13 70427159 70427159 single base substitution A G intron_variant LIRI-JP 13 70428397 70428397 single base substitution G T intron_variant LIRI-JP 13 70428498 70428498 single base substitution C T intron_variant LIRI-JP 13 70429571 70429571 single base substitution T C intron_variant LIRI-JP 13 70430923 70430923 single base substitution T C intron_variant LIRI-JP 13 70431143 70431143 single base substitution A G intron_variant LIRI-JP 13 70431571 70431571 single base substitution A G intron_variant LIRI-JP 13 70431666 70431666 single base substitution T A intron_variant LIRI-JP 13 70432667 70432667 single base substitution A C intron_variant LIRI-JP 13 70434087 70434088 deletion of <=200bp TC - intron_variant LIRI-JP 13 70436376 70436376 single base substitution T C intron_variant LIRI-JP 13 70437352 70437352 single base substitution A G intron_variant LIRI-JP 13 70437679 70437679 single base substitution C T intron_variant LIRI-JP 13 70438209 70438209 single base substitution T C intron_variant LIRI-JP 13 70438282 70438282 single base substitution T C intron_variant LIRI-JP 13 70438599 70438599 single base substitution A T intron_variant LIRI-JP 13 70439107 70439107 single base substitution C A intron_variant LIRI-JP 13 70439354 70439354 single base substitution C T intron_variant LIRI-JP 13 70439584 70439584 single base substitution A C intron_variant LIRI-JP 13 70440956 70440956 insertion of <=200bp - T intron_variant LIRI-JP 13 70441439 70441439 single base substitution C T intron_variant LIRI-JP 13 70441585 70441585 single base substitution T C intron_variant LIRI-JP 13 70441663 70441663 single base substitution T C intron_variant LIRI-JP 13 70442358 70442358 single base substitution A G intron_variant LIRI-JP 13 70442497 70442497 single base substitution A G intron_variant LIRI-JP 13 70442883 70442883 single base substitution A G intron_variant LIRI-JP 13 70443214 70443214 single base substitution A G intron_variant LIRI-JP 13 70447005 70447005 single base substitution C T intron_variant LIRI-JP 13 70447052 70447052 single base substitution G C intron_variant LIRI-JP 13 70447858 70447858 single base substitution C T intron_variant LIRI-JP 13 70449255 70449255 single base substitution A G intron_variant LIRI-JP 13 70450336 70450336 single base substitution T C intron_variant LIRI-JP 13 70450855 70450855 single base substitution T C intron_variant LIRI-JP 13 70451092 70451092 single base substitution C G intron_variant LIRI-JP 13 70451430 70451430 single base substitution C T intron_variant LIRI-JP 13 70451548 70451548 single base substitution A G intron_variant LIRI-JP 13 70452475 70452475 single base substitution A T intron_variant LIRI-JP 13 70452753 70452753 single base substitution T C intron_variant LIRI-JP 13 70453547 70453547 single base substitution A G intron_variant LIRI-JP 13 70455782 70455782 single base substitution A T intron_variant LIRI-JP 13 70457055 70457055 deletion of <=200bp A - intron_variant LIRI-JP 13 70457790 70457790 single base substitution C T intron_variant LIRI-JP 13 70458646 70458646 single base substitution A T intron_variant LIRI-JP 13 70459692 70459692 single base substitution T C intron_variant LIRI-JP 13 70459913 70459913 deletion of <=200bp G - intron_variant LIRI-JP 13 70460212 70460212 single base substitution G C intron_variant LIRI-JP 13 70460387 70460387 single base substitution T C intron_variant LIRI-JP 13 70461329 70461329 single base substitution A G intron_variant LIRI-JP 13 70464569 70464569 single base substitution A G intron_variant LIRI-JP 13 70465262 70465262 single base substitution A G intron_variant LIRI-JP 13 70465695 70465695 single base substitution T G intron_variant LIRI-JP 13 70465779 70465779 single base substitution T A intron_variant LIRI-JP 13 70468476 70468476 single base substitution T A intron_variant LIRI-JP 13 70468495 70468495 single base substitution G T intron_variant LIRI-JP 13 70468781 70468781 single base substitution C A intron_variant LIRI-JP 13 70468816 70468816 single base substitution T C intron_variant LIRI-JP 13 70470607 70470607 single base substitution T C intron_variant LIRI-JP 13 70471531 70471531 single base substitution G A intron_variant LIRI-JP 13 70473045 70473045 single base substitution C T intron_variant LIRI-JP 13 70473656 70473656 single base substitution C T intron_variant LIRI-JP 13 70474485 70474485 single base substitution A T intron_variant LIRI-JP 13 70474692 70474692 single base substitution C T intron_variant LIRI-JP 13 70474898 70474898 single base substitution T C intron_variant LIRI-JP 13 70475491 70475491 single base substitution T A intron_variant LIRI-JP 13 70476508 70476508 single base substitution G T intron_variant LIRI-JP 13 70476787 70476787 single base substitution G C intron_variant LIRI-JP 13 70477309 70477309 single base substitution A T intron_variant LIRI-JP 13 70477434 70477434 single base substitution T A intron_variant LIRI-JP 13 70477593 70477593 single base substitution T C intron_variant LIRI-JP 13 70477677 70477677 single base substitution A G intron_variant LIRI-JP 13 70478283 70478283 single base substitution C A intron_variant LIRI-JP 13 70478765 70478765 single base substitution C T intron_variant LIRI-JP 13 70478819 70478819 single base substitution A G intron_variant LIRI-JP 13 70479119 70479119 single base substitution T C intron_variant LIRI-JP 13 70479211 70479211 single base substitution C T intron_variant LIRI-JP 13 70481172 70481172 single base substitution A G intron_variant LIRI-JP 13 70481669 70481669 single base substitution T A intron_variant LIRI-JP 13 70482070 70482070 single base substitution A G intron_variant LIRI-JP 13 70482604 70482604 deletion of <=200bp C - intron_variant LIRI-JP 13 70484353 70484353 single base substitution C T intron_variant LIRI-JP 13 70484576 70484576 single base substitution A G intron_variant LIRI-JP 13 70484746 70484746 single base substitution G A intron_variant LIRI-JP 13 70484747 70484747 single base substitution G T intron_variant LIRI-JP 13 70484997 70484997 single base substitution T C intron_variant LIRI-JP 13 70485592 70485592 single base substitution A T intron_variant LIRI-JP 13 70486482 70486482 single base substitution A G intron_variant LIRI-JP 13 70488124 70488124 single base substitution G A intron_variant LIRI-JP 13 70488460 70488460 single base substitution A G intron_variant LIRI-JP 13 70489281 70489281 single base substitution T C intron_variant LIRI-JP 13 70489337 70489337 single base substitution C T intron_variant LIRI-JP 13 70491220 70491220 single base substitution A G intron_variant LIRI-JP 13 70491419 70491419 single base substitution C A intron_variant LIRI-JP 13 70491659 70491659 single base substitution A T intron_variant LIRI-JP 13 70491989 70491989 single base substitution A G intron_variant LIRI-JP 13 70492164 70492164 single base substitution G A intron_variant LIRI-JP 13 70493683 70493683 single base substitution G T intron_variant LIRI-JP 13 70493739 70493739 single base substitution C A intron_variant LIRI-JP 13 70494208 70494208 single base substitution T G intron_variant LIRI-JP 13 70494708 70494708 insertion of <=200bp - G intron_variant LIRI-JP 13 70495196 70495196 single base substitution C T intron_variant LIRI-JP 13 70495615 70495615 single base substitution T A intron_variant LIRI-JP 13 70497122 70497122 single base substitution T A intron_variant LIRI-JP 13 70497656 70497656 single base substitution T C intron_variant LIRI-JP 13 70500654 70500654 single base substitution C T intron_variant LIRI-JP 13 70500851 70500851 single base substitution G A intron_variant LIRI-JP 13 70501719 70501719 single base substitution G T intron_variant LIRI-JP 13 70502648 70502648 single base substitution C A intron_variant LIRI-JP 13 70502917 70502917 single base substitution G T intron_variant LIRI-JP 13 70503056 70503056 single base substitution C T intron_variant LIRI-JP 13 70503336 70503337 deletion of <=200bp AC - intron_variant LIRI-JP 13 70504187 70504189 deletion of <=200bp TAG - intron_variant LIRI-JP 13 70504455 70504455 single base substitution A G intron_variant LIRI-JP 13 70504842 70504842 single base substitution A T intron_variant LIRI-JP 13 70505754 70505754 single base substitution T C intron_variant LIRI-JP 13 70507004 70507004 single base substitution T C intron_variant LIRI-JP 13 70507105 70507105 single base substitution G A intron_variant LIRI-JP 13 70508130 70508130 single base substitution A G intron_variant LIRI-JP 13 70509572 70509572 single base substitution A G intron_variant LIRI-JP 13 70509781 70509781 single base substitution G A intron_variant LIRI-JP 13 70509918 70509918 single base substitution G A intron_variant LIRI-JP 13 70511093 70511093 single base substitution C T intron_variant LIRI-JP 13 70511663 70511663 single base substitution T C intron_variant LIRI-JP 13 70512847 70512847 single base substitution G T intron_variant LIRI-JP 13 70513002 70513002 single base substitution G T intron_variant LIRI-JP 13 70514853 70514853 single base substitution A G intron_variant LIRI-JP 13 70516238 70516238 single base substitution T C intron_variant LIRI-JP 13 70516985 70516985 single base substitution A T intron_variant LIRI-JP 13 70517606 70517606 single base substitution T C intron_variant LIRI-JP 13 70517681 70517681 deletion of <=200bp G - intron_variant LIRI-JP 13 70518152 70518152 single base substitution A T intron_variant LIRI-JP 13 70520566 70520566 single base substitution C A intron_variant LIRI-JP 13 70521353 70521353 single base substitution G T intron_variant LIRI-JP 13 70522179 70522179 single base substitution G A intron_variant LIRI-JP 13 70522405 70522405 single base substitution C A intron_variant LIRI-JP 13 70522951 70522951 single base substitution T A intron_variant LIRI-JP 13 70523094 70523094 single base substitution A G intron_variant LIRI-JP 13 70523196 70523196 single base substitution C A intron_variant LIRI-JP 13 70525427 70525427 single base substitution G T intron_variant LIRI-JP 13 70525509 70525509 single base substitution T A intron_variant LIRI-JP 13 70525531 70525531 single base substitution G C intron_variant LIRI-JP 13 70525827 70525827 single base substitution T C intron_variant LIRI-JP 13 70527095 70527095 single base substitution A G intron_variant LIRI-JP 13 70527590 70527590 single base substitution G T intron_variant LIRI-JP 13 70527693 70527693 single base substitution G A intron_variant LIRI-JP 13 70528272 70528272 single base substitution A T intron_variant LIRI-JP 13 70532459 70532459 single base substitution T C intron_variant LIRI-JP 13 70533925 70533925 single base substitution A G intron_variant LIRI-JP 13 70533949 70533949 single base substitution A G intron_variant LIRI-JP 13 70534521 70534521 single base substitution A G intron_variant LIRI-JP 13 70535103 70535103 single base substitution G A intron_variant LIRI-JP 13 70536635 70536635 single base substitution G T intron_variant LIRI-JP 13 70537404 70537404 single base substitution G C intron_variant LIRI-JP 13 70538437 70538437 single base substitution G T intron_variant LIRI-JP 13 70540114 70540114 single base substitution A G intron_variant LIRI-JP 13 70541587 70541587 single base substitution G A intron_variant LIRI-JP 13 70541915 70541915 single base substitution G A intron_variant LIRI-JP 13 70543123 70543123 single base substitution A G intron_variant LIRI-JP 13 70544253 70544253 single base substitution T C intron_variant LIRI-JP 13 70546787 70546787 single base substitution T C intron_variant LIRI-JP 13 70548141 70548141 single base substitution C G intron_variant LIRI-JP 13 70549489 70549489 single base substitution T C intron_variant LIRI-JP 13 70549551 70549551 single base substitution A G intron_variant LIRI-JP 13 70549752 70549752 single base substitution C A intron_variant LIRI-JP 13 70549752 70549752 single base substitution C A missense_variant R227M 680G>T LIRI-JP 13 70551045 70551045 single base substitution A G intron_variant LIRI-JP 13 70551647 70551647 single base substitution T C intron_variant LIRI-JP 13 70552089 70552089 single base substitution T A intron_variant LIRI-JP 13 70552174 70552174 single base substitution A G intron_variant LIRI-JP 13 70552209 70552209 single base substitution C A intron_variant LIRI-JP 13 70552210 70552210 single base substitution C A intron_variant LIRI-JP 13 70552413 70552413 single base substitution A G intron_variant LIRI-JP 13 70552468 70552468 single base substitution G T intron_variant LIRI-JP 13 70554726 70554726 single base substitution T C intron_variant LIRI-JP 13 70555086 70555086 single base substitution G T intron_variant LIRI-JP 13 70556990 70556990 single base substitution C A intron_variant LIRI-JP 13 70557076 70557076 single base substitution T C intron_variant LIRI-JP 13 70557446 70557446 single base substitution A G intron_variant LIRI-JP 13 70557476 70557476 single base substitution A G intron_variant LIRI-JP 13 70557805 70557805 single base substitution A T intron_variant LIRI-JP 13 70558183 70558183 single base substitution A G intron_variant LIRI-JP 13 70558546 70558546 single base substitution A G intron_variant LIRI-JP 13 70559333 70559333 single base substitution A G intron_variant LIRI-JP 13 70560762 70560762 single base substitution C G intron_variant LIRI-JP 13 70561136 70561136 single base substitution T C intron_variant LIRI-JP 13 70562129 70562129 single base substitution G T intron_variant LIRI-JP 13 70562407 70562407 single base substitution T C intron_variant LIRI-JP 13 70562580 70562580 single base substitution A G intron_variant LIRI-JP 13 70562597 70562597 single base substitution T C intron_variant LIRI-JP 13 70563449 70563449 single base substitution G A intron_variant LIRI-JP 13 70563725 70563725 single base substitution T C intron_variant LIRI-JP 13 70565039 70565039 single base substitution A G intron_variant LIRI-JP 13 70567212 70567212 single base substitution C T intron_variant LIRI-JP 13 70567527 70567527 single base substitution A T intron_variant LIRI-JP 13 70569527 70569527 single base substitution T C intron_variant LIRI-JP 13 70574218 70574218 single base substitution G C intron_variant LIRI-JP 13 70575195 70575195 single base substitution T C intron_variant LIRI-JP 13 70577022 70577022 single base substitution C A intron_variant LIRI-JP 13 70577789 70577789 single base substitution A G intron_variant LIRI-JP 13 70577813 70577813 single base substitution A T intron_variant LIRI-JP 13 70578228 70578228 single base substitution A T intron_variant LIRI-JP 13 70579048 70579048 single base substitution T C intron_variant LIRI-JP 13 70579151 70579151 single base substitution T C intron_variant LIRI-JP 13 70579944 70579944 single base substitution C A intron_variant LIRI-JP 13 70579963 70579963 single base substitution A G intron_variant LIRI-JP 13 70580138 70580138 single base substitution C A intron_variant LIRI-JP 13 70580272 70580272 single base substitution T C intron_variant LIRI-JP 13 70580411 70580411 single base substitution G T intron_variant LIRI-JP 13 70581275 70581275 single base substitution C T intron_variant LIRI-JP 13 70581598 70581598 single base substitution C G intron_variant LIRI-JP 13 70582398 70582398 single base substitution C T intron_variant LIRI-JP 13 70582743 70582743 single base substitution C T intron_variant LIRI-JP 13 70582881 70582881 single base substitution T A intron_variant LIRI-JP 13 70582962 70582962 single base substitution C A intron_variant LIRI-JP 13 70583437 70583437 single base substitution A G intron_variant LIRI-JP 13 70584475 70584475 single base substitution A T intron_variant LIRI-JP 13 70585247 70585247 single base substitution C G intron_variant LIRI-JP 13 70585604 70585604 single base substitution A C intron_variant LIRI-JP 13 70585888 70585888 single base substitution T A intron_variant LIRI-JP 13 70585888 70585888 single base substitution T C intron_variant LIRI-JP 13 70586260 70586260 single base substitution G T intron_variant LIRI-JP 13 70586518 70586518 single base substitution A G intron_variant LIRI-JP 13 70587829 70587829 single base substitution T C intron_variant LIRI-JP 13 70587957 70587957 single base substitution C G intron_variant LIRI-JP 13 70588350 70588350 single base substitution G A intron_variant LIRI-JP 13 70588729 70588736 deletion of <=200bp TCATATTA - intron_variant LIRI-JP 13 70588926 70588926 single base substitution C A intron_variant LIRI-JP 13 70588998 70588998 single base substitution A G intron_variant LIRI-JP 13 70589593 70589593 single base substitution A G intron_variant LIRI-JP 13 70590112 70590112 single base substitution T C intron_variant LIRI-JP 13 70590456 70590456 single base substitution G A intron_variant LIRI-JP 13 70590457 70590457 single base substitution G T intron_variant LIRI-JP 13 70591778 70591778 single base substitution A T intron_variant LIRI-JP 13 70592157 70592157 single base substitution T C intron_variant LIRI-JP 13 70592234 70592234 single base substitution G A intron_variant LIRI-JP 13 70594824 70594824 single base substitution A G intron_variant LIRI-JP 13 70595160 70595160 single base substitution C G intron_variant LIRI-JP 13 70596008 70596008 single base substitution T C intron_variant LIRI-JP 13 70597107 70597107 single base substitution G C intron_variant LIRI-JP 13 70597216 70597216 single base substitution T C intron_variant LIRI-JP 13 70597948 70597948 single base substitution A T intron_variant LIRI-JP 13 70598529 70598529 single base substitution G A intron_variant LIRI-JP 13 70599670 70599670 single base substitution T C intron_variant LIRI-JP 13 70599952 70599952 single base substitution G A intron_variant LIRI-JP 13 70600190 70600190 single base substitution A G intron_variant LIRI-JP 13 70600475 70600475 single base substitution A G intron_variant LIRI-JP 13 70600599 70600599 single base substitution G T intron_variant LIRI-JP 13 70600961 70600961 single base substitution G T intron_variant LIRI-JP 13 70601117 70601117 single base substitution A G intron_variant LIRI-JP 13 70602486 70602486 single base substitution T G intron_variant LIRI-JP 13 70602493 70602493 single base substitution A C intron_variant LIRI-JP 13 70604585 70604585 single base substitution T A intron_variant LIRI-JP 13 70607912 70607912 single base substitution C T intron_variant LIRI-JP 13 70608591 70608591 single base substitution C G intron_variant LIRI-JP 13 70609174 70609174 single base substitution G A intron_variant LIRI-JP 13 70609714 70609714 single base substitution G T intron_variant LIRI-JP 13 70609979 70609979 single base substitution T C intron_variant LIRI-JP 13 70610238 70610238 single base substitution T C intron_variant LIRI-JP 13 70610252 70610252 single base substitution T G intron_variant LIRI-JP 13 70611282 70611282 single base substitution A G intron_variant LIRI-JP 13 70611556 70611556 single base substitution A G intron_variant LIRI-JP 13 70612863 70612863 single base substitution C A intron_variant LIRI-JP 13 70613597 70613597 single base substitution T C intron_variant LIRI-JP 13 70614429 70614429 single base substitution A G intron_variant LIRI-JP 13 70614522 70614522 single base substitution A G intron_variant LIRI-JP 13 70614563 70614563 single base substitution G T intron_variant LIRI-JP 13 70614773 70614773 single base substitution A T intron_variant LIRI-JP 13 70615021 70615021 single base substitution C T intron_variant LIRI-JP 13 70615586 70615586 single base substitution C A intron_variant LIRI-JP 13 70616695 70616695 single base substitution G C intron_variant LIRI-JP 13 70616875 70616875 single base substitution T C intron_variant LIRI-JP 13 70618362 70618362 single base substitution A G intron_variant LIRI-JP 13 70619292 70619292 insertion of <=200bp - A intron_variant LIRI-JP 13 70619768 70619771 deletion of <=200bp TATG - intron_variant LIRI-JP 13 70619990 70619991 deletion of <=200bp AG - intron_variant LIRI-JP 13 70620405 70620405 single base substitution A G intron_variant LIRI-JP 13 70622173 70622173 single base substitution G T intron_variant LIRI-JP 13 70622982 70622982 single base substitution C G intron_variant LIRI-JP 13 70624423 70624423 single base substitution C A intron_variant LIRI-JP 13 70624848 70624848 single base substitution A T intron_variant LIRI-JP 13 70625276 70625276 single base substitution C A intron_variant LIRI-JP 13 70625625 70625625 deletion of <=200bp T - intron_variant LIRI-JP 13 70627088 70627088 single base substitution A G intron_variant LIRI-JP 13 70627195 70627195 single base substitution C A intron_variant LIRI-JP 13 70628130 70628130 single base substitution A T intron_variant LIRI-JP 13 70628365 70628365 single base substitution A G intron_variant LIRI-JP 13 70629166 70629166 single base substitution C A intron_variant LIRI-JP 13 70629782 70629782 single base substitution C A intron_variant LIRI-JP 13 70630139 70630139 single base substitution C G intron_variant LIRI-JP 13 70630344 70630344 single base substitution A G intron_variant LIRI-JP 13 70631152 70631152 single base substitution T C intron_variant LIRI-JP 13 70631581 70631581 single base substitution A G intron_variant LIRI-JP 13 70631985 70631985 single base substitution T C intron_variant LIRI-JP 13 70633923 70633923 single base substitution T C intron_variant LIRI-JP 13 70634154 70634154 single base substitution T A intron_variant LIRI-JP 13 70635654 70635654 single base substitution C G intron_variant LIRI-JP 13 70636030 70636030 single base substitution T C intron_variant LIRI-JP 13 70636501 70636501 deletion of <=200bp T - intron_variant LIRI-JP 13 70636948 70636948 single base substitution T C intron_variant LIRI-JP 13 70637623 70637623 single base substitution C A intron_variant LIRI-JP 13 70637829 70637829 single base substitution A T intron_variant LIRI-JP 13 70638094 70638094 single base substitution A T intron_variant LIRI-JP 13 70638785 70638785 single base substitution T C intron_variant LIRI-JP 13 70639082 70639082 single base substitution C T intron_variant LIRI-JP 13 70639227 70639227 single base substitution T G intron_variant LIRI-JP 13 70639244 70639244 single base substitution G A intron_variant LIRI-JP 13 70641125 70641125 single base substitution A G intron_variant LIRI-JP 13 70641809 70641809 single base substitution T A intron_variant LIRI-JP 13 70642947 70642947 single base substitution T C intron_variant LIRI-JP 13 70643797 70643797 single base substitution A C intron_variant LIRI-JP 13 70644259 70644259 single base substitution T A intron_variant LIRI-JP 13 70644478 70644478 single base substitution A C intron_variant LIRI-JP 13 70645239 70645239 single base substitution A T intron_variant LIRI-JP 13 70645279 70645279 single base substitution T C intron_variant LIRI-JP 13 70645327 70645327 single base substitution G C intron_variant LIRI-JP 13 70646019 70646019 single base substitution T C intron_variant LIRI-JP 13 70646501 70646501 single base substitution A G intron_variant LIRI-JP 13 70648340 70648340 single base substitution C T intron_variant LIRI-JP 13 70648577 70648577 single base substitution C A intron_variant LIRI-JP 13 70649173 70649173 single base substitution A G intron_variant LIRI-JP 13 70649183 70649183 single base substitution T C intron_variant LIRI-JP 13 70649882 70649882 single base substitution C T intron_variant LIRI-JP 13 70649884 70649884 single base substitution T C intron_variant LIRI-JP 13 70650629 70650629 single base substitution C T intron_variant LIRI-JP 13 70651246 70651246 single base substitution A T intron_variant LIRI-JP 13 70651670 70651670 single base substitution T C intron_variant LIRI-JP 13 70652042 70652042 single base substitution G A intron_variant LIRI-JP 13 70652051 70652051 single base substitution T A intron_variant LIRI-JP 13 70652340 70652341 deletion of <=200bp AG - intron_variant LIRI-JP 13 70652485 70652485 deletion of <=200bp T - intron_variant LIRI-JP 13 70653906 70653906 single base substitution A G intron_variant LIRI-JP 13 70654210 70654210 single base substitution G A intron_variant LIRI-JP 13 70654346 70654346 single base substitution C A intron_variant LIRI-JP 13 70654864 70654864 single base substitution G A intron_variant LIRI-JP 13 70655820 70655820 single base substitution C G intron_variant LIRI-JP 13 70657146 70657146 single base substitution A T intron_variant LIRI-JP 13 70657603 70657603 single base substitution T C intron_variant LIRI-JP 13 70658312 70658312 single base substitution T A intron_variant LIRI-JP 13 70658684 70658684 single base substitution G T intron_variant LIRI-JP 13 70658685 70658685 single base substitution G T intron_variant LIRI-JP 13 70659037 70659042 deletion of <=200bp AACGCG - intron_variant LIRI-JP 13 70659122 70659122 deletion of <=200bp T - intron_variant LIRI-JP 13 70659515 70659515 single base substitution A T intron_variant LIRI-JP 13 70659572 70659572 single base substitution T C intron_variant LIRI-JP 13 70659595 70659595 single base substitution G A intron_variant LIRI-JP 13 70659666 70659666 single base substitution A T intron_variant LIRI-JP 13 70659728 70659728 single base substitution G T intron_variant LIRI-JP 13 70661001 70661001 single base substitution T C intron_variant LIRI-JP 13 70662281 70662281 single base substitution A G intron_variant LIRI-JP 13 70662932 70662932 single base substitution T C intron_variant LIRI-JP 13 70662946 70662946 single base substitution T C intron_variant LIRI-JP 13 70663554 70663554 single base substitution A T intron_variant LIRI-JP 13 70664400 70664400 deletion of <=200bp T - intron_variant LIRI-JP 13 70664417 70664417 single base substitution T C intron_variant LIRI-JP 13 70664481 70664481 single base substitution G T intron_variant LIRI-JP 13 70664544 70664544 single base substitution G T intron_variant LIRI-JP 13 70664897 70664897 single base substitution A T intron_variant LIRI-JP 13 70665778 70665778 single base substitution T G intron_variant LIRI-JP 13 70665898 70665898 single base substitution C T intron_variant LIRI-JP 13 70666461 70666461 single base substitution C T intron_variant LIRI-JP 13 70666498 70666498 single base substitution T A intron_variant LIRI-JP 13 70667120 70667120 single base substitution T C intron_variant LIRI-JP 13 70668167 70668167 single base substitution T C intron_variant LIRI-JP 13 70668720 70668720 single base substitution T C intron_variant LIRI-JP 13 70669252 70669252 single base substitution G T intron_variant LIRI-JP 13 70670256 70670256 single base substitution A C intron_variant LIRI-JP 13 70670463 70670463 single base substitution T A intron_variant LIRI-JP 13 70670793 70670794 deletion of <=200bp AA - intron_variant LIRI-JP 13 70671438 70671438 single base substitution A G intron_variant LIRI-JP 13 70671982 70671982 single base substitution T A intron_variant LIRI-JP 13 70672568 70672568 single base substitution C A intron_variant LIRI-JP 13 70676975 70676975 single base substitution A G intron_variant LIRI-JP 13 70678749 70678749 single base substitution T C intron_variant LIRI-JP 13 70679621 70679621 single base substitution A G intron_variant LIRI-JP 13 70679990 70679990 single base substitution T C intron_variant LIRI-JP 13 70680345 70680345 single base substitution C A intron_variant LIRI-JP 13 70680848 70680848 single base substitution C A intron_variant LIRI-JP 13 70681006 70681006 single base substitution T G intron_variant LIRI-JP 13 70681586 70681586 single base substitution C G 5_prime_UTR_variant LIRI-JP 13 70681586 70681586 single base substitution C G synonymous_variant P82P 246G>C LIRI-JP 13 70681808 70681808 single base substitution G T 5_prime_UTR_variant LIRI-JP 13 70681808 70681808 single base substitution G T missense_variant D8E 24C>A LIRI-JP 13 70683208 70683208 single base substitution A T upstream_gene_variant LIRI-JP 13 70683496 70683496 single base substitution T A upstream_gene_variant LIRI-JP 13 70684677 70684677 single base substitution G A upstream_gene_variant LIRI-JP 13 70685373 70685373 single base substitution C T upstream_gene_variant LIRI-JP 13 70685452 70685452 single base substitution T G upstream_gene_variant LIRI-JP 13 70685654 70685654 single base substitution C A upstream_gene_variant LIRI-JP 13 70687284 70687284 single base substitution C T upstream_gene_variant LIRI-JP 13 70687439 70687439 single base substitution A G upstream_gene_variant LUSC-KR 13 70270148 70270148 single base substitution G T downstream_gene_variant LUSC-KR 13 70271296 70271296 single base substitution C A downstream_gene_variant LUSC-KR 13 70271709 70271709 single base substitution G T downstream_gene_variant LUSC-KR 13 70274496 70274496 single base substitution T C downstream_gene_variant LUSC-KR 13 70274552 70274552 single base substitution A C downstream_gene_variant LUSC-KR 13 70274697 70274697 single base substitution G A downstream_gene_variant LUSC-KR 13 70275048 70275048 single base substitution G T 3_prime_UTR_variant LUSC-KR 13 70275048 70275048 single base substitution G T downstream_gene_variant LUSC-KR 13 70278791 70278791 single base substitution G T intron_variant LUSC-KR 13 70278914 70278914 single base substitution C A intron_variant LUSC-KR 13 70278979 70278979 single base substitution G C intron_variant LUSC-KR 13 70280332 70280332 single base substitution C A intron_variant LUSC-KR 13 70280867 70280867 single base substitution A G intron_variant LUSC-KR 13 70281032 70281032 single base substitution C A intron_variant LUSC-KR 13 70281200 70281200 single base substitution G T intron_variant LUSC-KR 13 70285378 70285378 single base substitution A T intron_variant LUSC-KR 13 70285864 70285864 single base substitution T C intron_variant LUSC-KR 13 70286904 70286904 single base substitution T G intron_variant LUSC-KR 13 70287220 70287220 single base substitution C G intron_variant LUSC-KR 13 70288751 70288751 single base substitution G T intron_variant LUSC-KR 13 70289127 70289127 single base substitution A T intron_variant LUSC-KR 13 70289267 70289267 single base substitution C A intron_variant LUSC-KR 13 70290205 70290205 single base substitution G T intron_variant LUSC-KR 13 70290560 70290560 single base substitution A G intron_variant LUSC-KR 13 70290774 70290774 single base substitution G T intron_variant LUSC-KR 13 70292428 70292428 single base substitution A T intron_variant LUSC-KR 13 70293048 70293048 single base substitution C A intron_variant LUSC-KR 13 70293665 70293665 single base substitution C A missense_variant M424I 1272G>T LUSC-KR 13 70293665 70293665 single base substitution C A missense_variant M617I 1851G>T LUSC-KR 13 70293990 70293990 single base substitution C G intron_variant LUSC-KR 13 70294960 70294960 single base substitution G T intron_variant LUSC-KR 13 70295875 70295875 single base substitution C A intron_variant LUSC-KR 13 70296798 70296798 single base substitution G T intron_variant LUSC-KR 13 70296861 70296861 single base substitution A G intron_variant LUSC-KR 13 70297327 70297327 single base substitution G A intron_variant LUSC-KR 13 70297337 70297337 single base substitution G T intron_variant LUSC-KR 13 70297673 70297673 single base substitution A G intron_variant LUSC-KR 13 70297794 70297794 single base substitution G T intron_variant LUSC-KR 13 70298017 70298017 single base substitution C T intron_variant LUSC-KR 13 70299147 70299147 single base substitution G T intron_variant LUSC-KR 13 70302230 70302230 single base substitution G A intron_variant LUSC-KR 13 70303150 70303150 single base substitution A T intron_variant LUSC-KR 13 70303196 70303196 single base substitution C A intron_variant LUSC-KR 13 70303336 70303336 single base substitution G T intron_variant LUSC-KR 13 70304153 70304153 single base substitution A T intron_variant LUSC-KR 13 70304366 70304366 single base substitution A G intron_variant LUSC-KR 13 70307534 70307534 single base substitution T C intron_variant LUSC-KR 13 70307722 70307722 single base substitution C A intron_variant LUSC-KR 13 70307817 70307817 single base substitution C A intron_variant LUSC-KR 13 70309902 70309902 single base substitution T G intron_variant LUSC-KR 13 70310788 70310788 single base substitution G T intron_variant LUSC-KR 13 70311047 70311047 single base substitution G C intron_variant LUSC-KR 13 70311144 70311144 single base substitution C A intron_variant LUSC-KR 13 70311493 70311493 single base substitution G T intron_variant LUSC-KR 13 70313077 70313077 single base substitution A G intron_variant LUSC-KR 13 70313141 70313141 single base substitution C A intron_variant LUSC-KR 13 70313693 70313693 single base substitution G T intron_variant LUSC-KR 13 70313862 70313862 single base substitution A G intron_variant LUSC-KR 13 70314837 70314837 single base substitution G C intron_variant LUSC-KR 13 70315649 70315649 single base substitution C A intron_variant LUSC-KR 13 70315670 70315670 single base substitution C T intron_variant LUSC-KR 13 70315742 70315742 single base substitution G A intron_variant LUSC-KR 13 70315905 70315905 single base substitution T C intron_variant LUSC-KR 13 70316882 70316882 single base substitution A T intron_variant LUSC-KR 13 70317001 70317001 single base substitution G A intron_variant LUSC-KR 13 70317002 70317002 single base substitution G T intron_variant LUSC-KR 13 70317047 70317047 single base substitution T A intron_variant LUSC-KR 13 70317228 70317228 single base substitution G A intron_variant LUSC-KR 13 70320514 70320514 single base substitution C T intron_variant LUSC-KR 13 70320533 70320533 single base substitution A T intron_variant LUSC-KR 13 70323198 70323198 single base substitution C A intron_variant LUSC-KR 13 70326071 70326071 single base substitution C G intron_variant LUSC-KR 13 70326074 70326074 single base substitution C A intron_variant LUSC-KR 13 70326075 70326075 single base substitution C G intron_variant LUSC-KR 13 70326542 70326542 single base substitution A T intron_variant LUSC-KR 13 70327333 70327333 single base substitution C A intron_variant LUSC-KR 13 70327423 70327423 single base substitution A T intron_variant LUSC-KR 13 70328962 70328962 single base substitution C T intron_variant LUSC-KR 13 70329813 70329813 single base substitution C T intron_variant LUSC-KR 13 70330026 70330026 single base substitution C T intron_variant LUSC-KR 13 70330255 70330255 single base substitution C A intron_variant LUSC-KR 13 70330644 70330644 single base substitution G A intron_variant LUSC-KR 13 70330701 70330701 single base substitution G T intron_variant LUSC-KR 13 70330824 70330824 single base substitution G A intron_variant LUSC-KR 13 70330942 70330942 single base substitution A C intron_variant LUSC-KR 13 70330954 70330954 single base substitution A G intron_variant LUSC-KR 13 70331902 70331902 single base substitution C A intron_variant LUSC-KR 13 70332018 70332018 single base substitution G A intron_variant LUSC-KR 13 70333402 70333402 single base substitution A T intron_variant LUSC-KR 13 70333411 70333411 single base substitution G C intron_variant LUSC-KR 13 70334397 70334397 single base substitution G A intron_variant LUSC-KR 13 70334650 70334650 single base substitution G C intron_variant LUSC-KR 13 70335631 70335631 single base substitution G T intron_variant LUSC-KR 13 70336814 70336814 single base substitution C A intron_variant LUSC-KR 13 70336846 70336846 single base substitution G T intron_variant LUSC-KR 13 70337277 70337277 single base substitution G T intron_variant LUSC-KR 13 70337479 70337479 single base substitution G T intron_variant LUSC-KR 13 70337841 70337841 single base substitution G T intron_variant LUSC-KR 13 70339899 70339899 single base substitution C A intron_variant LUSC-KR 13 70340129 70340129 single base substitution A T intron_variant LUSC-KR 13 70343307 70343307 single base substitution G T intron_variant LUSC-KR 13 70343308 70343308 single base substitution G T intron_variant LUSC-KR 13 70343433 70343433 single base substitution A T intron_variant LUSC-KR 13 70343706 70343706 single base substitution G A intron_variant LUSC-KR 13 70344138 70344138 single base substitution C A intron_variant LUSC-KR 13 70344282 70344282 single base substitution C A intron_variant LUSC-KR 13 70344364 70344364 single base substitution G T intron_variant LUSC-KR 13 70344441 70344441 single base substitution G T intron_variant LUSC-KR 13 70344539 70344539 single base substitution C G intron_variant LUSC-KR 13 70345915 70345915 single base substitution G T intron_variant LUSC-KR 13 70346206 70346206 single base substitution C T intron_variant LUSC-KR 13 70350477 70350477 single base substitution G C intron_variant LUSC-KR 13 70351232 70351232 single base substitution C T intron_variant LUSC-KR 13 70351233 70351233 single base substitution G T intron_variant LUSC-KR 13 70351314 70351314 single base substitution C A intron_variant LUSC-KR 13 70352372 70352372 single base substitution C T intron_variant LUSC-KR 13 70352390 70352390 single base substitution A G intron_variant LUSC-KR 13 70353050 70353050 single base substitution C A intron_variant LUSC-KR 13 70353320 70353320 single base substitution A C intron_variant LUSC-KR 13 70353973 70353973 single base substitution C A intron_variant LUSC-KR 13 70354165 70354165 single base substitution C A intron_variant LUSC-KR 13 70355443 70355443 single base substitution A T intron_variant LUSC-KR 13 70357378 70357378 single base substitution G C intron_variant LUSC-KR 13 70357890 70357890 single base substitution G A intron_variant LUSC-KR 13 70358027 70358027 single base substitution G T intron_variant LUSC-KR 13 70358212 70358212 single base substitution A T intron_variant LUSC-KR 13 70358257 70358257 single base substitution A T intron_variant LUSC-KR 13 70358855 70358855 single base substitution C A intron_variant LUSC-KR 13 70359046 70359046 single base substitution G C intron_variant LUSC-KR 13 70360214 70360214 single base substitution G A intron_variant LUSC-KR 13 70360252 70360252 single base substitution C T intron_variant LUSC-KR 13 70360386 70360386 single base substitution C T intron_variant LUSC-KR 13 70360675 70360675 single base substitution C A intron_variant LUSC-KR 13 70360713 70360713 single base substitution G A intron_variant LUSC-KR 13 70361142 70361142 single base substitution G T intron_variant LUSC-KR 13 70362647 70362647 single base substitution G A intron_variant LUSC-KR 13 70364054 70364054 single base substitution T C intron_variant LUSC-KR 13 70364838 70364838 single base substitution A T intron_variant LUSC-KR 13 70365058 70365058 single base substitution G T intron_variant LUSC-KR 13 70365094 70365094 single base substitution C A intron_variant LUSC-KR 13 70366213 70366213 single base substitution A G intron_variant LUSC-KR 13 70370048 70370048 single base substitution G T intron_variant LUSC-KR 13 70370485 70370485 single base substitution G A intron_variant LUSC-KR 13 70372802 70372802 single base substitution C A intron_variant LUSC-KR 13 70374076 70374076 single base substitution C A intron_variant LUSC-KR 13 70375656 70375656 single base substitution G A intron_variant LUSC-KR 13 70377518 70377518 single base substitution C T intron_variant LUSC-KR 13 70378360 70378360 single base substitution A T intron_variant LUSC-KR 13 70378372 70378372 single base substitution T C intron_variant LUSC-KR 13 70378392 70378392 single base substitution G T intron_variant LUSC-KR 13 70378615 70378615 single base substitution C G intron_variant LUSC-KR 13 70379903 70379903 single base substitution A G intron_variant LUSC-KR 13 70380238 70380238 single base substitution C A intron_variant LUSC-KR 13 70381184 70381184 single base substitution T A intron_variant LUSC-KR 13 70382265 70382265 single base substitution C T intron_variant LUSC-KR 13 70382297 70382297 single base substitution G T intron_variant LUSC-KR 13 70382939 70382939 single base substitution C T intron_variant LUSC-KR 13 70383078 70383078 single base substitution C A intron_variant LUSC-KR 13 70383167 70383167 single base substitution G T intron_variant LUSC-KR 13 70383751 70383751 single base substitution C A intron_variant LUSC-KR 13 70383780 70383780 single base substitution C A intron_variant LUSC-KR 13 70384316 70384316 single base substitution A G intron_variant LUSC-KR 13 70385146 70385146 single base substitution G T intron_variant LUSC-KR 13 70386433 70386433 single base substitution T A intron_variant LUSC-KR 13 70386582 70386582 single base substitution C G intron_variant LUSC-KR 13 70387087 70387087 single base substitution C A intron_variant LUSC-KR 13 70387271 70387271 single base substitution C A intron_variant LUSC-KR 13 70387391 70387391 single base substitution G C intron_variant LUSC-KR 13 70387637 70387637 single base substitution T C intron_variant LUSC-KR 13 70388927 70388927 single base substitution G C intron_variant LUSC-KR 13 70389335 70389335 single base substitution G T intron_variant LUSC-KR 13 70389451 70389451 single base substitution G A intron_variant LUSC-KR 13 70389494 70389494 single base substitution A G intron_variant LUSC-KR 13 70389556 70389556 single base substitution G T intron_variant LUSC-KR 13 70390412 70390412 single base substitution G T intron_variant LUSC-KR 13 70390718 70390718 single base substitution C A intron_variant LUSC-KR 13 70391481 70391481 single base substitution A G intron_variant LUSC-KR 13 70391761 70391761 single base substitution G A intron_variant LUSC-KR 13 70392306 70392306 single base substitution C A intron_variant LUSC-KR 13 70392646 70392646 single base substitution C A intron_variant LUSC-KR 13 70392722 70392722 single base substitution G T intron_variant LUSC-KR 13 70392736 70392736 single base substitution T A intron_variant LUSC-KR 13 70392739 70392739 single base substitution G A intron_variant LUSC-KR 13 70395589 70395589 single base substitution G C intron_variant LUSC-KR 13 70397068 70397068 single base substitution T A intron_variant LUSC-KR 13 70399473 70399473 single base substitution G A intron_variant LUSC-KR 13 70399694 70399694 single base substitution G A intron_variant LUSC-KR 13 70401739 70401739 single base substitution G T intron_variant LUSC-KR 13 70401843 70401843 single base substitution C A intron_variant LUSC-KR 13 70402782 70402782 single base substitution C T intron_variant LUSC-KR 13 70403861 70403861 single base substitution C A intron_variant LUSC-KR 13 70404274 70404274 single base substitution C A intron_variant LUSC-KR 13 70405748 70405748 single base substitution T A intron_variant LUSC-KR 13 70406031 70406031 single base substitution C A intron_variant LUSC-KR 13 70407531 70407531 single base substitution C A intron_variant LUSC-KR 13 70409656 70409656 single base substitution C A intron_variant LUSC-KR 13 70411851 70411851 single base substitution A G intron_variant LUSC-KR 13 70412797 70412797 single base substitution A T intron_variant LUSC-KR 13 70412987 70412987 single base substitution C G intron_variant LUSC-KR 13 70413147 70413147 single base substitution C A stop_gained G266* 796G>T LUSC-KR 13 70413147 70413147 single base substitution C A stop_gained G459* 1375G>T LUSC-KR 13 70414443 70414443 single base substitution C A intron_variant LUSC-KR 13 70415017 70415017 single base substitution G A intron_variant LUSC-KR 13 70415032 70415032 single base substitution A T intron_variant LUSC-KR 13 70415755 70415755 single base substitution C A intron_variant LUSC-KR 13 70416094 70416094 single base substitution G C intron_variant LUSC-KR 13 70416537 70416537 single base substitution G C intron_variant LUSC-KR 13 70417279 70417279 single base substitution C A intron_variant LUSC-KR 13 70417828 70417828 single base substitution C A intron_variant LUSC-KR 13 70417924 70417924 single base substitution C G intron_variant LUSC-KR 13 70418288 70418288 single base substitution T C intron_variant LUSC-KR 13 70419080 70419080 single base substitution G T intron_variant LUSC-KR 13 70419321 70419321 single base substitution T A intron_variant LUSC-KR 13 70420664 70420664 single base substitution C A intron_variant LUSC-KR 13 70422361 70422361 single base substitution G C intron_variant LUSC-KR 13 70423746 70423746 single base substitution C G intron_variant LUSC-KR 13 70424999 70424999 single base substitution G T intron_variant LUSC-KR 13 70427461 70427461 single base substitution C G intron_variant LUSC-KR 13 70427712 70427712 single base substitution G A intron_variant LUSC-KR 13 70428904 70428904 single base substitution G T intron_variant LUSC-KR 13 70429232 70429232 single base substitution G A intron_variant LUSC-KR 13 70430352 70430352 single base substitution C T intron_variant LUSC-KR 13 70431606 70431606 single base substitution C A intron_variant LUSC-KR 13 70431693 70431693 single base substitution C G intron_variant LUSC-KR 13 70431694 70431694 single base substitution C A intron_variant LUSC-KR 13 70432386 70432386 single base substitution C G intron_variant LUSC-KR 13 70432539 70432539 single base substitution C T intron_variant LUSC-KR 13 70433382 70433382 single base substitution A T intron_variant LUSC-KR 13 70434606 70434606 single base substitution G A intron_variant LUSC-KR 13 70434906 70434906 single base substitution A T intron_variant LUSC-KR 13 70435165 70435165 single base substitution C T intron_variant LUSC-KR 13 70436650 70436650 single base substitution C A intron_variant LUSC-KR 13 70437009 70437009 single base substitution C A intron_variant LUSC-KR 13 70439107 70439107 single base substitution C A intron_variant LUSC-KR 13 70440030 70440030 single base substitution A G intron_variant LUSC-KR 13 70441154 70441154 single base substitution C A intron_variant LUSC-KR 13 70441354 70441354 single base substitution G C intron_variant LUSC-KR 13 70441845 70441845 single base substitution T A intron_variant LUSC-KR 13 70442622 70442622 single base substitution T A intron_variant LUSC-KR 13 70443357 70443357 single base substitution C T intron_variant LUSC-KR 13 70443789 70443789 single base substitution G T intron_variant LUSC-KR 13 70444175 70444175 single base substitution T C intron_variant LUSC-KR 13 70444536 70444536 single base substitution C T intron_variant LUSC-KR 13 70445424 70445424 single base substitution G T intron_variant LUSC-KR 13 70446235 70446235 single base substitution G T intron_variant LUSC-KR 13 70447254 70447254 single base substitution C T intron_variant LUSC-KR 13 70448087 70448087 single base substitution C T intron_variant LUSC-KR 13 70450437 70450437 single base substitution A T intron_variant LUSC-KR 13 70451278 70451278 single base substitution C T intron_variant LUSC-KR 13 70452140 70452140 single base substitution A G intron_variant LUSC-KR 13 70452550 70452550 single base substitution C T intron_variant LUSC-KR 13 70452610 70452610 single base substitution A T intron_variant LUSC-KR 13 70452845 70452845 single base substitution G T intron_variant LUSC-KR 13 70453695 70453695 single base substitution A G intron_variant LUSC-KR 13 70454216 70454216 single base substitution T C intron_variant LUSC-KR 13 70454341 70454341 single base substitution C T intron_variant LUSC-KR 13 70455045 70455045 single base substitution A T intron_variant LUSC-KR 13 70456014 70456014 single base substitution C A intron_variant LUSC-KR 13 70456677 70456677 single base substitution C G intron_variant LUSC-KR 13 70457136 70457136 single base substitution A T intron_variant LUSC-KR 13 70457215 70457215 single base substitution C A intron_variant LUSC-KR 13 70459084 70459084 single base substitution G T intron_variant LUSC-KR 13 70459335 70459335 single base substitution G T intron_variant LUSC-KR 13 70459364 70459364 single base substitution G T intron_variant LUSC-KR 13 70459725 70459725 single base substitution A T intron_variant LUSC-KR 13 70460171 70460171 single base substitution G C intron_variant LUSC-KR 13 70461671 70461671 single base substitution G A intron_variant LUSC-KR 13 70461745 70461745 single base substitution T C intron_variant LUSC-KR 13 70464762 70464762 single base substitution T C intron_variant LUSC-KR 13 70466443 70466443 single base substitution G C intron_variant LUSC-KR 13 70466699 70466699 single base substitution T A intron_variant LUSC-KR 13 70467378 70467378 single base substitution G T intron_variant LUSC-KR 13 70469456 70469456 single base substitution C T intron_variant LUSC-KR 13 70470538 70470538 single base substitution G T intron_variant LUSC-KR 13 70470567 70470567 single base substitution G T intron_variant LUSC-KR 13 70470598 70470598 single base substitution A T intron_variant LUSC-KR 13 70471631 70471631 single base substitution A T intron_variant LUSC-KR 13 70472135 70472135 single base substitution C A intron_variant LUSC-KR 13 70472757 70472757 single base substitution A T intron_variant LUSC-KR 13 70473369 70473369 single base substitution G A intron_variant LUSC-KR 13 70473370 70473370 single base substitution G T intron_variant LUSC-KR 13 70473582 70473582 single base substitution A T intron_variant LUSC-KR 13 70473667 70473667 single base substitution G T intron_variant LUSC-KR 13 70473829 70473829 single base substitution G A intron_variant LUSC-KR 13 70474553 70474553 single base substitution C A intron_variant LUSC-KR 13 70475771 70475771 single base substitution C A intron_variant LUSC-KR 13 70476238 70476238 single base substitution G T intron_variant LUSC-KR 13 70476862 70476862 single base substitution G C intron_variant LUSC-KR 13 70477145 70477145 single base substitution C G intron_variant LUSC-KR 13 70477277 70477277 single base substitution G T intron_variant LUSC-KR 13 70477539 70477539 single base substitution G T intron_variant LUSC-KR 13 70479061 70479061 single base substitution A G intron_variant LUSC-KR 13 70480462 70480462 single base substitution G T intron_variant LUSC-KR 13 70483822 70483822 single base substitution G C intron_variant LUSC-KR 13 70485862 70485862 single base substitution T A intron_variant LUSC-KR 13 70486863 70486863 single base substitution C T intron_variant LUSC-KR 13 70487138 70487138 single base substitution A G intron_variant LUSC-KR 13 70488091 70488091 single base substitution A T intron_variant LUSC-KR 13 70488773 70488773 single base substitution C A intron_variant LUSC-KR 13 70490123 70490123 single base substitution G C intron_variant LUSC-KR 13 70490401 70490401 single base substitution T A intron_variant LUSC-KR 13 70491847 70491847 single base substitution C G intron_variant LUSC-KR 13 70492857 70492857 single base substitution C A intron_variant LUSC-KR 13 70495368 70495368 single base substitution C A intron_variant LUSC-KR 13 70495452 70495452 single base substitution C A intron_variant LUSC-KR 13 70496308 70496308 single base substitution G T intron_variant LUSC-KR 13 70496637 70496637 single base substitution C G intron_variant LUSC-KR 13 70497616 70497616 single base substitution C T intron_variant LUSC-KR 13 70497863 70497863 single base substitution G T intron_variant LUSC-KR 13 70498470 70498470 single base substitution C A intron_variant LUSC-KR 13 70498471 70498471 single base substitution A T intron_variant LUSC-KR 13 70498755 70498755 single base substitution C A intron_variant LUSC-KR 13 70498762 70498762 single base substitution A G intron_variant LUSC-KR 13 70498809 70498809 single base substitution C G intron_variant LUSC-KR 13 70499200 70499200 single base substitution G A intron_variant LUSC-KR 13 70499270 70499270 single base substitution A T intron_variant LUSC-KR 13 70502317 70502317 single base substitution G T intron_variant LUSC-KR 13 70502933 70502933 single base substitution C T intron_variant LUSC-KR 13 70505559 70505559 single base substitution T A intron_variant LUSC-KR 13 70506523 70506523 single base substitution G C intron_variant LUSC-KR 13 70506741 70506741 single base substitution C T intron_variant LUSC-KR 13 70506801 70506801 single base substitution A G intron_variant LUSC-KR 13 70508837 70508837 single base substitution C T intron_variant LUSC-KR 13 70509807 70509807 single base substitution C T intron_variant LUSC-KR 13 70510908 70510908 single base substitution G T intron_variant LUSC-KR 13 70511124 70511124 single base substitution C A intron_variant LUSC-KR 13 70511538 70511538 single base substitution T C intron_variant LUSC-KR 13 70511539 70511539 single base substitution C A intron_variant LUSC-KR 13 70512481 70512481 single base substitution G A intron_variant LUSC-KR 13 70512670 70512670 single base substitution C A intron_variant LUSC-KR 13 70513960 70513960 single base substitution A T intron_variant LUSC-KR 13 70514349 70514349 single base substitution C A missense_variant E279D 837G>T LUSC-KR 13 70514349 70514349 single base substitution C A missense_variant E86D 258G>T LUSC-KR 13 70514620 70514620 single base substitution G A intron_variant LUSC-KR 13 70515881 70515881 single base substitution C T intron_variant LUSC-KR 13 70515891 70515891 single base substitution C T intron_variant LUSC-KR 13 70516499 70516499 single base substitution T C intron_variant LUSC-KR 13 70518160 70518160 single base substitution A G intron_variant LUSC-KR 13 70518662 70518662 single base substitution G T intron_variant LUSC-KR 13 70518734 70518734 single base substitution G A intron_variant LUSC-KR 13 70518971 70518971 single base substitution A C intron_variant LUSC-KR 13 70519985 70519985 single base substitution G C intron_variant LUSC-KR 13 70520260 70520260 single base substitution C A intron_variant LUSC-KR 13 70520740 70520740 single base substitution G T intron_variant LUSC-KR 13 70521569 70521569 single base substitution G A intron_variant LUSC-KR 13 70524105 70524105 single base substitution G T intron_variant LUSC-KR 13 70525223 70525223 single base substitution T C intron_variant LUSC-KR 13 70525298 70525298 single base substitution C A intron_variant LUSC-KR 13 70526113 70526113 single base substitution C T intron_variant LUSC-KR 13 70527434 70527434 single base substitution T C intron_variant LUSC-KR 13 70527531 70527531 single base substitution G C intron_variant LUSC-KR 13 70527962 70527962 single base substitution C A intron_variant LUSC-KR 13 70528010 70528010 single base substitution A T intron_variant LUSC-KR 13 70528031 70528031 single base substitution A G intron_variant LUSC-KR 13 70529136 70529136 single base substitution G A intron_variant LUSC-KR 13 70530888 70530888 single base substitution C T intron_variant LUSC-KR 13 70531054 70531054 single base substitution G T intron_variant LUSC-KR 13 70531365 70531365 single base substitution G C intron_variant LUSC-KR 13 70531438 70531438 single base substitution T G intron_variant LUSC-KR 13 70531469 70531469 single base substitution C A intron_variant LUSC-KR 13 70531972 70531972 single base substitution G T intron_variant LUSC-KR 13 70532647 70532647 single base substitution C G intron_variant LUSC-KR 13 70533245 70533245 single base substitution C G intron_variant LUSC-KR 13 70538299 70538299 single base substitution T G intron_variant LUSC-KR 13 70539292 70539292 single base substitution C T intron_variant LUSC-KR 13 70540994 70540994 single base substitution C T intron_variant LUSC-KR 13 70541118 70541118 single base substitution C A intron_variant LUSC-KR 13 70541674 70541674 single base substitution C A intron_variant LUSC-KR 13 70541701 70541701 single base substitution G T intron_variant LUSC-KR 13 70541885 70541885 single base substitution C T intron_variant LUSC-KR 13 70542417 70542417 single base substitution G T intron_variant LUSC-KR 13 70543808 70543808 single base substitution T C intron_variant LUSC-KR 13 70544061 70544061 single base substitution C A intron_variant LUSC-KR 13 70544259 70544259 single base substitution T A intron_variant LUSC-KR 13 70544473 70544473 single base substitution G C intron_variant LUSC-KR 13 70544489 70544489 single base substitution C G intron_variant LUSC-KR 13 70545406 70545406 single base substitution T A intron_variant LUSC-KR 13 70546343 70546343 single base substitution A T intron_variant LUSC-KR 13 70547062 70547062 single base substitution T A intron_variant LUSC-KR 13 70547321 70547321 single base substitution G A intron_variant LUSC-KR 13 70547492 70547492 single base substitution T A intron_variant LUSC-KR 13 70550749 70550749 single base substitution C A intron_variant LUSC-KR 13 70551406 70551406 single base substitution A G intron_variant LUSC-KR 13 70552914 70552914 single base substitution T G intron_variant LUSC-KR 13 70552961 70552961 single base substitution G T intron_variant LUSC-KR 13 70553068 70553068 single base substitution A G intron_variant LUSC-KR 13 70553271 70553271 single base substitution T A intron_variant LUSC-KR 13 70554122 70554122 single base substitution C A intron_variant LUSC-KR 13 70556737 70556737 single base substitution G T intron_variant LUSC-KR 13 70558275 70558275 single base substitution C G intron_variant LUSC-KR 13 70558381 70558381 single base substitution C A intron_variant LUSC-KR 13 70558954 70558954 single base substitution G T intron_variant LUSC-KR 13 70558964 70558964 single base substitution G T intron_variant LUSC-KR 13 70559578 70559578 single base substitution C T intron_variant LUSC-KR 13 70559652 70559652 single base substitution G T intron_variant LUSC-KR 13 70560936 70560936 single base substitution G A intron_variant LUSC-KR 13 70561723 70561723 single base substitution T A intron_variant LUSC-KR 13 70562504 70562504 single base substitution C A intron_variant LUSC-KR 13 70563284 70563284 single base substitution G T intron_variant LUSC-KR 13 70563838 70563838 single base substitution T C intron_variant LUSC-KR 13 70564309 70564309 single base substitution G A intron_variant LUSC-KR 13 70564444 70564444 single base substitution A T intron_variant LUSC-KR 13 70564853 70564853 single base substitution C A intron_variant LUSC-KR 13 70565392 70565392 single base substitution C G intron_variant LUSC-KR 13 70566116 70566116 single base substitution C A intron_variant LUSC-KR 13 70566404 70566404 single base substitution C A intron_variant LUSC-KR 13 70566773 70566773 single base substitution C A intron_variant LUSC-KR 13 70567722 70567722 single base substitution C A intron_variant LUSC-KR 13 70567873 70567873 single base substitution G A intron_variant LUSC-KR 13 70568571 70568571 single base substitution C A intron_variant LUSC-KR 13 70569675 70569675 single base substitution G T intron_variant LUSC-KR 13 70570390 70570390 single base substitution G A intron_variant LUSC-KR 13 70570643 70570643 single base substitution T A intron_variant LUSC-KR 13 70572288 70572288 single base substitution C G intron_variant LUSC-KR 13 70573037 70573037 single base substitution G T intron_variant LUSC-KR 13 70573702 70573702 single base substitution T C intron_variant LUSC-KR 13 70573767 70573767 single base substitution C A intron_variant LUSC-KR 13 70574250 70574250 single base substitution T C intron_variant LUSC-KR 13 70575797 70575797 single base substitution C A intron_variant LUSC-KR 13 70575832 70575832 single base substitution C G intron_variant LUSC-KR 13 70575843 70575843 single base substitution C T intron_variant LUSC-KR 13 70576744 70576744 single base substitution T A intron_variant LUSC-KR 13 70577930 70577930 single base substitution G A intron_variant LUSC-KR 13 70579856 70579856 single base substitution C T intron_variant LUSC-KR 13 70582049 70582049 single base substitution C G intron_variant LUSC-KR 13 70584077 70584077 single base substitution A T intron_variant LUSC-KR 13 70584097 70584097 single base substitution G T intron_variant LUSC-KR 13 70584443 70584443 single base substitution G A intron_variant LUSC-KR 13 70584461 70584461 single base substitution A G intron_variant LUSC-KR 13 70584952 70584952 single base substitution A G intron_variant LUSC-KR 13 70585349 70585349 single base substitution C G intron_variant LUSC-KR 13 70585527 70585527 single base substitution C A intron_variant LUSC-KR 13 70587696 70587696 single base substitution G C intron_variant LUSC-KR 13 70590093 70590093 single base substitution C T intron_variant LUSC-KR 13 70590804 70590804 single base substitution G T intron_variant LUSC-KR 13 70592240 70592240 single base substitution G T intron_variant LUSC-KR 13 70592408 70592408 single base substitution G T intron_variant LUSC-KR 13 70593336 70593336 single base substitution G A intron_variant LUSC-KR 13 70595713 70595713 single base substitution C A intron_variant LUSC-KR 13 70597253 70597253 single base substitution T A intron_variant LUSC-KR 13 70597561 70597561 single base substitution T C intron_variant LUSC-KR 13 70597579 70597579 single base substitution A G intron_variant LUSC-KR 13 70598409 70598409 single base substitution C G intron_variant LUSC-KR 13 70598485 70598485 single base substitution A G intron_variant LUSC-KR 13 70599959 70599959 single base substitution A G intron_variant LUSC-KR 13 70600854 70600854 single base substitution G A intron_variant LUSC-KR 13 70600979 70600979 single base substitution G T intron_variant LUSC-KR 13 70601513 70601513 single base substitution G T intron_variant LUSC-KR 13 70603281 70603281 single base substitution G C intron_variant LUSC-KR 13 70603737 70603737 single base substitution A G intron_variant LUSC-KR 13 70604975 70604975 single base substitution C T intron_variant LUSC-KR 13 70605319 70605319 single base substitution T A intron_variant LUSC-KR 13 70606800 70606800 single base substitution C A intron_variant LUSC-KR 13 70608314 70608314 single base substitution G T intron_variant LUSC-KR 13 70608984 70608984 single base substitution C G intron_variant LUSC-KR 13 70609920 70609920 single base substitution C A intron_variant LUSC-KR 13 70610193 70610193 single base substitution G T intron_variant LUSC-KR 13 70610194 70610194 single base substitution G T intron_variant LUSC-KR 13 70610663 70610663 single base substitution G A intron_variant LUSC-KR 13 70613015 70613015 single base substitution G T intron_variant LUSC-KR 13 70613089 70613089 single base substitution A G intron_variant LUSC-KR 13 70617192 70617192 single base substitution C A intron_variant LUSC-KR 13 70617598 70617598 single base substitution G C intron_variant LUSC-KR 13 70617932 70617932 single base substitution C A intron_variant LUSC-KR 13 70617962 70617962 single base substitution A T intron_variant LUSC-KR 13 70618462 70618462 single base substitution C T intron_variant LUSC-KR 13 70618796 70618796 single base substitution A T intron_variant LUSC-KR 13 70619754 70619754 single base substitution G C intron_variant LUSC-KR 13 70620733 70620733 single base substitution C T intron_variant LUSC-KR 13 70621044 70621044 single base substitution T A intron_variant LUSC-KR 13 70621120 70621120 single base substitution T C intron_variant LUSC-KR 13 70621152 70621152 single base substitution C T intron_variant LUSC-KR 13 70622504 70622504 single base substitution T A intron_variant LUSC-KR 13 70622505 70622505 single base substitution A G intron_variant LUSC-KR 13 70622676 70622676 single base substitution G T intron_variant LUSC-KR 13 70623017 70623017 single base substitution T C intron_variant LUSC-KR 13 70623800 70623800 single base substitution C G intron_variant LUSC-KR 13 70623933 70623933 single base substitution G C intron_variant LUSC-KR 13 70624164 70624164 single base substitution G T intron_variant LUSC-KR 13 70624564 70624564 single base substitution G A intron_variant LUSC-KR 13 70628148 70628148 single base substitution C A intron_variant LUSC-KR 13 70628596 70628596 single base substitution G T intron_variant LUSC-KR 13 70628797 70628797 single base substitution G C intron_variant LUSC-KR 13 70628886 70628886 single base substitution G T intron_variant LUSC-KR 13 70628887 70628887 single base substitution G T intron_variant LUSC-KR 13 70630165 70630165 single base substitution A G intron_variant LUSC-KR 13 70630560 70630560 single base substitution C A intron_variant LUSC-KR 13 70631625 70631625 single base substitution G A intron_variant LUSC-KR 13 70631765 70631765 single base substitution G T intron_variant LUSC-KR 13 70632945 70632945 single base substitution C A intron_variant LUSC-KR 13 70633356 70633356 single base substitution C A intron_variant LUSC-KR 13 70634054 70634054 single base substitution C A intron_variant LUSC-KR 13 70634055 70634055 single base substitution C A intron_variant LUSC-KR 13 70634464 70634464 single base substitution C A intron_variant LUSC-KR 13 70634501 70634501 single base substitution A C intron_variant LUSC-KR 13 70634614 70634614 single base substitution C A intron_variant LUSC-KR 13 70634750 70634750 single base substitution T A intron_variant LUSC-KR 13 70636040 70636040 single base substitution G C intron_variant LUSC-KR 13 70637269 70637269 single base substitution T G intron_variant LUSC-KR 13 70638691 70638691 single base substitution G T intron_variant LUSC-KR 13 70638794 70638794 single base substitution C A intron_variant LUSC-KR 13 70639411 70639411 single base substitution G A intron_variant LUSC-KR 13 70640360 70640360 single base substitution T A intron_variant LUSC-KR 13 70642331 70642331 single base substitution G T intron_variant LUSC-KR 13 70642798 70642798 single base substitution C T intron_variant LUSC-KR 13 70643297 70643297 single base substitution C A intron_variant LUSC-KR 13 70643946 70643946 single base substitution G T intron_variant LUSC-KR 13 70644487 70644487 single base substitution G A intron_variant LUSC-KR 13 70645447 70645447 single base substitution C A intron_variant LUSC-KR 13 70646144 70646144 single base substitution C A intron_variant LUSC-KR 13 70646805 70646805 single base substitution C A intron_variant LUSC-KR 13 70646860 70646860 single base substitution T C intron_variant LUSC-KR 13 70647906 70647906 single base substitution C T intron_variant LUSC-KR 13 70648218 70648218 single base substitution C A intron_variant LUSC-KR 13 70649064 70649064 single base substitution G T intron_variant LUSC-KR 13 70649596 70649596 single base substitution A T intron_variant LUSC-KR 13 70650421 70650421 single base substitution G T intron_variant LUSC-KR 13 70650547 70650547 single base substitution C A intron_variant LUSC-KR 13 70650889 70650889 single base substitution C G intron_variant LUSC-KR 13 70651178 70651178 single base substitution A T intron_variant LUSC-KR 13 70651584 70651584 single base substitution G A intron_variant LUSC-KR 13 70651668 70651668 single base substitution C G intron_variant LUSC-KR 13 70653001 70653001 single base substitution A T intron_variant LUSC-KR 13 70653501 70653501 single base substitution C A intron_variant LUSC-KR 13 70654681 70654681 single base substitution G C intron_variant LUSC-KR 13 70654853 70654853 single base substitution C A intron_variant LUSC-KR 13 70655583 70655583 single base substitution C G intron_variant LUSC-KR 13 70656780 70656780 single base substitution C A intron_variant LUSC-KR 13 70656781 70656781 single base substitution A G intron_variant LUSC-KR 13 70657315 70657315 single base substitution T G intron_variant LUSC-KR 13 70661086 70661086 single base substitution G C intron_variant LUSC-KR 13 70661270 70661270 single base substitution G T intron_variant LUSC-KR 13 70661810 70661810 single base substitution G T intron_variant LUSC-KR 13 70662669 70662669 single base substitution G C intron_variant LUSC-KR 13 70663143 70663143 single base substitution C A intron_variant LUSC-KR 13 70665100 70665100 single base substitution T A intron_variant LUSC-KR 13 70666567 70666567 single base substitution A T intron_variant LUSC-KR 13 70667062 70667062 single base substitution A G intron_variant LUSC-KR 13 70667793 70667793 single base substitution C T intron_variant LUSC-KR 13 70669268 70669268 single base substitution T C intron_variant LUSC-KR 13 70669392 70669392 single base substitution A T intron_variant LUSC-KR 13 70670136 70670136 single base substitution G T intron_variant LUSC-KR 13 70670348 70670348 single base substitution G T intron_variant LUSC-KR 13 70671784 70671784 single base substitution C G intron_variant LUSC-KR 13 70672435 70672435 single base substitution C A intron_variant LUSC-KR 13 70672838 70672838 single base substitution G T intron_variant LUSC-KR 13 70674286 70674286 single base substitution G T intron_variant LUSC-KR 13 70675715 70675715 single base substitution C A intron_variant LUSC-KR 13 70676362 70676362 single base substitution A T intron_variant LUSC-KR 13 70676565 70676565 single base substitution A G intron_variant LUSC-KR 13 70678462 70678462 single base substitution A T intron_variant LUSC-KR 13 70679030 70679030 single base substitution A T intron_variant LUSC-KR 13 70680587 70680587 single base substitution G T intron_variant LUSC-KR 13 70681346 70681346 single base substitution T A synonymous_variant G162G 486A>T LUSC-KR 13 70681346 70681346 single base substitution T A synonymous_variant G30G 90A>T LUSC-KR 13 70682080 70682080 single base substitution G T 5_prime_UTR_variant LUSC-KR 13 70682080 70682080 single base substitution G T upstream_gene_variant LUSC-KR 13 70682390 70682390 single base substitution G T 5_prime_UTR_variant LUSC-KR 13 70682390 70682390 single base substitution G T upstream_gene_variant LUSC-KR 13 70682393 70682393 single base substitution C A 5_prime_UTR_variant LUSC-KR 13 70682393 70682393 single base substitution C A upstream_gene_variant LUSC-KR 13 70682954 70682954 single base substitution G A upstream_gene_variant LUSC-KR 13 70684888 70684888 single base substitution G A upstream_gene_variant LUSC-KR 13 70685606 70685606 single base substitution C A upstream_gene_variant LUSC-KR 13 70686343 70686343 single base substitution C T upstream_gene_variant LUSC-US 13 70281777 70281777 single base substitution G A stop_gained Q530* 1588C>T LUSC-US 13 70281777 70281777 single base substitution G A stop_gained Q723* 2167C>T LUSC-US 13 70293558 70293558 single base substitution C A missense_variant G460V 1379G>T LUSC-US 13 70293558 70293558 single base substitution C A missense_variant G653V 1958G>T LUSC-US 13 70293566 70293566 single base substitution A C stop_gained Y457* 1371T>G LUSC-US 13 70293566 70293566 single base substitution A C stop_gained Y650* 1950T>G LUSC-US 13 70314552 70314552 single base substitution T A synonymous_variant T399T 1197A>T LUSC-US 13 70314552 70314552 single base substitution T A synonymous_variant T592T 1776A>T LUSC-US 13 70314629 70314629 single base substitution G T missense_variant L374M 1120C>A LUSC-US 13 70314629 70314629 single base substitution G T missense_variant L567M 1699C>A LUSC-US 13 70370953 70370953 single base substitution G T missense_variant T326K 977C>A LUSC-US 13 70370953 70370953 single base substitution G T missense_variant T519K 1556C>A LUSC-US 13 70413282 70413282 single base substitution G T missense_variant L221I 661C>A LUSC-US 13 70413282 70413282 single base substitution G T missense_variant L414I 1240C>A LUSC-US 13 70413283 70413283 single base substitution G T missense_variant D220E 660C>A LUSC-US 13 70413283 70413283 single base substitution G T missense_variant D413E 1239C>A LUSC-US 13 70456529 70456529 single base substitution A T missense_variant D178E 534T>A LUSC-US 13 70456529 70456529 single base substitution A T missense_variant D371E 1113T>A LUSC-US 13 70456586 70456586 single base substitution G T synonymous_variant L159L 477C>A LUSC-US 13 70456586 70456586 single base substitution G T synonymous_variant L352L 1056C>A LUSC-US 13 70514187 70514187 single base substitution G T synonymous_variant A140A 420C>A LUSC-US 13 70514187 70514187 single base substitution G T synonymous_variant A333A 999C>A LUSC-US 13 70514196 70514196 single base substitution C A missense_variant M137I 411G>T LUSC-US 13 70514196 70514196 single base substitution C A missense_variant M330I 990G>T LUSC-US 13 70514251 70514251 single base substitution G A missense_variant S119F 356C>T LUSC-US 13 70514251 70514251 single base substitution G A missense_variant S312F 935C>T LUSC-US 13 70514254 70514254 single base substitution G T missense_variant P118Q 353C>A LUSC-US 13 70514254 70514254 single base substitution G T missense_variant P311Q 932C>A LUSC-US 13 70514310 70514310 single base substitution A C synonymous_variant L292L 876T>G LUSC-US 13 70514310 70514310 single base substitution A C synonymous_variant L99L 297T>G LUSC-US 13 70535466 70535466 single base substitution C T stop_gained W264* 791G>A LUSC-US 13 70535466 70535466 single base substitution C T stop_gained W71* 212G>A LUSC-US 13 70535578 70535578 single base substitution T C splice_acceptor_variant LUSC-US 13 70681347 70681347 single base substitution C G missense_variant G162A 485G>C LUSC-US 13 70681347 70681347 single base substitution C G missense_variant G30A 89G>C LUSC-US 13 70681632 70681632 single base substitution G A 5_prime_UTR_variant LUSC-US 13 70681632 70681632 single base substitution G A missense_variant T67I 200C>T LUSC-US 13 70681657 70681657 single base substitution T G 5_prime_UTR_variant LUSC-US 13 70681657 70681657 single base substitution T G missense_variant S59R 175A>C LUSC-US 13 70681661 70681661 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 13 70681661 70681661 single base substitution G C synonymous_variant L57L 171C>G LUSC-US 13 70681669 70681669 single base substitution G C 5_prime_UTR_variant LUSC-US 13 70681669 70681669 single base substitution G C missense_variant R55G 163C>G LUSC-US 13 70681734 70681734 single base substitution G T 5_prime_UTR_variant LUSC-US 13 70681734 70681734 single base substitution G T missense_variant A33E 98C>A MALY-DE 13 70269795 70269795 deletion of <=200bp T - downstream_gene_variant MALY-DE 13 70270605 70270605 single base substitution C A downstream_gene_variant MALY-DE 13 70270953 70270953 single base substitution A T downstream_gene_variant MALY-DE 13 70272742 70272742 insertion of <=200bp - A downstream_gene_variant MALY-DE 13 70273190 70273190 single base substitution T C downstream_gene_variant MALY-DE 13 70273281 70273281 single base substitution G T downstream_gene_variant MALY-DE 13 70273675 70273675 single base substitution C A downstream_gene_variant MALY-DE 13 70273868 70273868 single base substitution T G downstream_gene_variant MALY-DE 13 70275450 70275450 single base substitution T G 3_prime_UTR_variant MALY-DE 13 70275450 70275450 single base substitution T G downstream_gene_variant MALY-DE 13 70275753 70275753 single base substitution C T 3_prime_UTR_variant MALY-DE 13 70276125 70276125 single base substitution A G intron_variant MALY-DE 13 70276511 70276511 single base substitution A T intron_variant MALY-DE 13 70276591 70276591 single base substitution C A intron_variant MALY-DE 13 70277504 70277504 single base substitution A C intron_variant MALY-DE 13 70277579 70277579 single base substitution A C intron_variant MALY-DE 13 70278084 70278084 single base substitution C T intron_variant MALY-DE 13 70280758 70280758 single base substitution T G intron_variant MALY-DE 13 70282613 70282613 single base substitution T G intron_variant MALY-DE 13 70282754 70282754 single base substitution A C intron_variant MALY-DE 13 70283130 70283130 single base substitution T G intron_variant MALY-DE 13 70285902 70285902 single base substitution A C intron_variant MALY-DE 13 70287308 70287308 single base substitution T C intron_variant MALY-DE 13 70289513 70289513 single base substitution C T intron_variant MALY-DE 13 70290302 70290302 single base substitution T G intron_variant MALY-DE 13 70290538 70290538 insertion of <=200bp - A intron_variant MALY-DE 13 70290607 70290607 deletion of <=200bp T - intron_variant MALY-DE 13 70292739 70292739 single base substitution A T intron_variant MALY-DE 13 70293432 70293432 single base substitution T C intron_variant MALY-DE 13 70293433 70293433 single base substitution C A intron_variant MALY-DE 13 70293455 70293455 single base substitution G T intron_variant MALY-DE 13 70294273 70294273 single base substitution G C intron_variant MALY-DE 13 70295466 70295466 single base substitution G C intron_variant MALY-DE 13 70295632 70295632 single base substitution T G intron_variant MALY-DE 13 70296767 70296767 insertion of <=200bp - A intron_variant MALY-DE 13 70296774 70296774 single base substitution T A intron_variant MALY-DE 13 70297555 70297555 single base substitution G A intron_variant MALY-DE 13 70297622 70297622 single base substitution C T intron_variant MALY-DE 13 70297629 70297629 single base substitution A T intron_variant MALY-DE 13 70297890 70297890 single base substitution A G intron_variant MALY-DE 13 70298795 70298795 single base substitution T C intron_variant MALY-DE 13 70299220 70299220 single base substitution T C intron_variant MALY-DE 13 70302160 70302160 single base substitution A C intron_variant MALY-DE 13 70302940 70302940 deletion of <=200bp A - intron_variant MALY-DE 13 70303025 70303025 single base substitution T G intron_variant MALY-DE 13 70307045 70307045 single base substitution G A intron_variant MALY-DE 13 70309593 70309593 single base substitution T C intron_variant MALY-DE 13 70310036 70310036 single base substitution C A intron_variant MALY-DE 13 70310514 70310514 single base substitution T A intron_variant MALY-DE 13 70310753 70310753 insertion of <=200bp - A intron_variant MALY-DE 13 70314251 70314251 single base substitution G A intron_variant MALY-DE 13 70314432 70314432 single base substitution A C intron_variant MALY-DE 13 70314834 70314834 single base substitution A T intron_variant MALY-DE 13 70315286 70315286 single base substitution C T intron_variant MALY-DE 13 70316484 70316484 single base substitution C T intron_variant MALY-DE 13 70316758 70316758 single base substitution A C intron_variant MALY-DE 13 70316835 70316835 single base substitution A C intron_variant MALY-DE 13 70319625 70319625 single base substitution A C intron_variant MALY-DE 13 70319743 70319743 single base substitution A C intron_variant MALY-DE 13 70320263 70320263 single base substitution G T intron_variant MALY-DE 13 70322391 70322391 single base substitution G A intron_variant MALY-DE 13 70323538 70323538 single base substitution T C intron_variant MALY-DE 13 70325410 70325410 single base substitution T A intron_variant MALY-DE 13 70325453 70325453 single base substitution A C intron_variant MALY-DE 13 70325675 70325675 single base substitution A G intron_variant MALY-DE 13 70325835 70325835 single base substitution A C intron_variant MALY-DE 13 70327869 70327869 single base substitution C T intron_variant MALY-DE 13 70329049 70329049 single base substitution G T intron_variant MALY-DE 13 70329933 70329933 single base substitution A G intron_variant MALY-DE 13 70330546 70330546 single base substitution C A intron_variant MALY-DE 13 70330831 70330831 single base substitution T G intron_variant MALY-DE 13 70333504 70333504 single base substitution G T intron_variant MALY-DE 13 70335111 70335111 single base substitution G T intron_variant MALY-DE 13 70335567 70335567 single base substitution A G intron_variant MALY-DE 13 70335993 70335993 single base substitution G T intron_variant MALY-DE 13 70338507 70338507 single base substitution T G intron_variant MALY-DE 13 70341042 70341042 single base substitution A C intron_variant MALY-DE 13 70344199 70344199 single base substitution C A intron_variant MALY-DE 13 70344258 70344258 single base substitution G T intron_variant MALY-DE 13 70345832 70345832 single base substitution G A intron_variant MALY-DE 13 70349826 70349826 deletion of <=200bp T - intron_variant MALY-DE 13 70350290 70350290 insertion of <=200bp - A intron_variant MALY-DE 13 70350849 70350849 single base substitution C T intron_variant MALY-DE 13 70351346 70351346 single base substitution C T intron_variant MALY-DE 13 70353090 70353090 single base substitution C T intron_variant MALY-DE 13 70353403 70353403 single base substitution C T intron_variant MALY-DE 13 70353705 70353705 single base substitution A C intron_variant MALY-DE 13 70357768 70357768 single base substitution A C intron_variant MALY-DE 13 70357828 70357831 deletion of <=200bp CTGA - intron_variant MALY-DE 13 70364017 70364017 single base substitution G A intron_variant MALY-DE 13 70364373 70364373 deletion of <=200bp A - intron_variant MALY-DE 13 70364514 70364514 single base substitution G T intron_variant MALY-DE 13 70366946 70366946 single base substitution G A intron_variant MALY-DE 13 70368863 70368863 single base substitution A T intron_variant MALY-DE 13 70369778 70369778 single base substitution T G intron_variant MALY-DE 13 70371687 70371687 single base substitution G A intron_variant MALY-DE 13 70372601 70372601 single base substitution T C intron_variant MALY-DE 13 70374608 70374608 single base substitution G A intron_variant MALY-DE 13 70375681 70375681 single base substitution T G intron_variant MALY-DE 13 70376924 70376924 single base substitution G A intron_variant MALY-DE 13 70378440 70378440 insertion of <=200bp - G intron_variant MALY-DE 13 70379172 70379182 deletion of <=200bp TATAACATTTT - intron_variant MALY-DE 13 70379890 70379890 single base substitution A G intron_variant MALY-DE 13 70384062 70384062 single base substitution C T intron_variant MALY-DE 13 70384418 70384418 single base substitution A G intron_variant MALY-DE 13 70384681 70384681 single base substitution A C intron_variant MALY-DE 13 70388113 70388113 single base substitution A C intron_variant MALY-DE 13 70389442 70389442 single base substitution C A intron_variant MALY-DE 13 70390152 70390152 insertion of <=200bp - A intron_variant MALY-DE 13 70392999 70392999 single base substitution G T intron_variant MALY-DE 13 70394249 70394249 single base substitution A T intron_variant MALY-DE 13 70395341 70395341 single base substitution A C intron_variant MALY-DE 13 70397771 70397771 single base substitution T C intron_variant MALY-DE 13 70398020 70398020 single base substitution A G intron_variant MALY-DE 13 70400980 70400980 single base substitution G A intron_variant MALY-DE 13 70401454 70401454 single base substitution T C intron_variant MALY-DE 13 70403913 70403913 single base substitution T G intron_variant MALY-DE 13 70405964 70405964 single base substitution A G intron_variant MALY-DE 13 70407798 70407798 single base substitution T A intron_variant MALY-DE 13 70409349 70409349 single base substitution G T intron_variant MALY-DE 13 70409525 70409525 single base substitution G T intron_variant MALY-DE 13 70409740 70409740 single base substitution A G intron_variant MALY-DE 13 70411018 70411018 single base substitution T G intron_variant MALY-DE 13 70411197 70411197 single base substitution G A intron_variant MALY-DE 13 70411746 70411746 single base substitution C A intron_variant MALY-DE 13 70411803 70411804 deletion of <=200bp TA - intron_variant MALY-DE 13 70411849 70411849 single base substitution T G intron_variant MALY-DE 13 70412751 70412751 single base substitution T A intron_variant MALY-DE 13 70413298 70413298 single base substitution T A splice_region_variant MALY-DE 13 70414296 70414296 single base substitution C G intron_variant MALY-DE 13 70414398 70414398 single base substitution C G intron_variant MALY-DE 13 70414817 70414818 deletion of <=200bp TA - intron_variant MALY-DE 13 70415140 70415140 single base substitution C A intron_variant MALY-DE 13 70416067 70416067 single base substitution G A intron_variant MALY-DE 13 70416245 70416245 single base substitution G A intron_variant MALY-DE 13 70417474 70417474 single base substitution A C intron_variant MALY-DE 13 70418894 70418894 insertion of <=200bp - TTAT intron_variant MALY-DE 13 70419034 70419034 single base substitution T G intron_variant MALY-DE 13 70421082 70421082 single base substitution G T intron_variant MALY-DE 13 70421295 70421295 single base substitution A G intron_variant MALY-DE 13 70421510 70421510 single base substitution C A intron_variant MALY-DE 13 70425281 70425281 single base substitution A T intron_variant MALY-DE 13 70425739 70425739 single base substitution A C intron_variant MALY-DE 13 70425740 70425740 single base substitution A G intron_variant MALY-DE 13 70427220 70427220 single base substitution T G intron_variant MALY-DE 13 70429473 70429473 single base substitution T C intron_variant MALY-DE 13 70430029 70430029 single base substitution T A intron_variant MALY-DE 13 70430846 70430846 single base substitution T G intron_variant MALY-DE 13 70431546 70431546 single base substitution T C intron_variant MALY-DE 13 70432921 70432921 single base substitution A C intron_variant MALY-DE 13 70436427 70436428 deletion of <=200bp AG - intron_variant MALY-DE 13 70437703 70437703 single base substitution A T intron_variant MALY-DE 13 70440132 70440132 single base substitution T A intron_variant MALY-DE 13 70442487 70442487 single base substitution T G intron_variant MALY-DE 13 70442589 70442589 single base substitution A C intron_variant MALY-DE 13 70443782 70443782 single base substitution C G intron_variant MALY-DE 13 70444614 70444614 single base substitution T C intron_variant MALY-DE 13 70449511 70449511 single base substitution A C intron_variant MALY-DE 13 70449696 70449696 single base substitution C A intron_variant MALY-DE 13 70450711 70450711 single base substitution T G intron_variant MALY-DE 13 70451337 70451337 single base substitution C T intron_variant MALY-DE 13 70451607 70451607 single base substitution T A intron_variant MALY-DE 13 70451735 70451735 deletion of <=200bp T - intron_variant MALY-DE 13 70452375 70452375 single base substitution T G intron_variant MALY-DE 13 70452845 70452845 single base substitution G T intron_variant MALY-DE 13 70453342 70453342 insertion of <=200bp - T intron_variant MALY-DE 13 70456400 70456400 single base substitution G A intron_variant MALY-DE 13 70456407 70456407 single base substitution A C splice_region_variant MALY-DE 13 70458042 70458042 single base substitution G T intron_variant MALY-DE 13 70460384 70460384 single base substitution G T intron_variant MALY-DE 13 70460843 70460843 single base substitution A T intron_variant MALY-DE 13 70462945 70462945 single base substitution T A intron_variant MALY-DE 13 70464206 70464206 single base substitution C T intron_variant MALY-DE 13 70465799 70465799 single base substitution A C intron_variant MALY-DE 13 70468286 70468286 single base substitution C T intron_variant MALY-DE 13 70470425 70470425 single base substitution T C intron_variant MALY-DE 13 70470662 70470662 single base substitution T A intron_variant MALY-DE 13 70471252 70471252 insertion of <=200bp - T intron_variant MALY-DE 13 70471604 70471604 single base substitution T G intron_variant MALY-DE 13 70473791 70473791 single base substitution G A intron_variant MALY-DE 13 70475515 70475515 single base substitution T C intron_variant MALY-DE 13 70477037 70477037 single base substitution T A intron_variant MALY-DE 13 70480669 70480669 single base substitution T G intron_variant MALY-DE 13 70481110 70481110 single base substitution T A intron_variant MALY-DE 13 70481363 70481363 single base substitution A C intron_variant MALY-DE 13 70482971 70482971 single base substitution T A intron_variant MALY-DE 13 70483676 70483676 single base substitution T A intron_variant MALY-DE 13 70486098 70486098 single base substitution G C intron_variant MALY-DE 13 70486106 70486106 single base substitution A C intron_variant MALY-DE 13 70487106 70487106 single base substitution G C intron_variant MALY-DE 13 70493510 70493510 single base substitution T G intron_variant MALY-DE 13 70494314 70494314 single base substitution A T intron_variant MALY-DE 13 70494802 70494802 single base substitution A G intron_variant MALY-DE 13 70498498 70498498 single base substitution C T intron_variant MALY-DE 13 70498830 70498830 single base substitution G T intron_variant MALY-DE 13 70499494 70499494 single base substitution A C intron_variant MALY-DE 13 70501311 70501311 single base substitution G A intron_variant MALY-DE 13 70501557 70501557 single base substitution A C intron_variant MALY-DE 13 70502963 70502963 single base substitution G A intron_variant MALY-DE 13 70503811 70503811 single base substitution T A intron_variant MALY-DE 13 70504129 70504129 single base substitution G T intron_variant MALY-DE 13 70504841 70504841 single base substitution T G intron_variant MALY-DE 13 70506368 70506368 single base substitution A T intron_variant MALY-DE 13 70506696 70506696 single base substitution G C intron_variant MALY-DE 13 70506743 70506743 single base substitution A C intron_variant MALY-DE 13 70508525 70508525 single base substitution G A intron_variant MALY-DE 13 70509015 70509015 single base substitution T G intron_variant MALY-DE 13 70509395 70509395 single base substitution T C intron_variant MALY-DE 13 70509499 70509499 single base substitution A C intron_variant MALY-DE 13 70510032 70510032 insertion of <=200bp - A intron_variant MALY-DE 13 70512618 70512618 single base substitution A C intron_variant MALY-DE 13 70512733 70512733 single base substitution G C intron_variant MALY-DE 13 70516330 70516330 single base substitution T G intron_variant MALY-DE 13 70516538 70516538 single base substitution G T intron_variant MALY-DE 13 70516865 70516865 single base substitution C T intron_variant MALY-DE 13 70517131 70517131 single base substitution T G intron_variant MALY-DE 13 70517730 70517730 single base substitution G A intron_variant MALY-DE 13 70518512 70518512 single base substitution G C intron_variant MALY-DE 13 70519595 70519595 deletion of <=200bp A - intron_variant MALY-DE 13 70519718 70519718 single base substitution G A intron_variant MALY-DE 13 70519762 70519762 single base substitution C G intron_variant MALY-DE 13 70520385 70520385 single base substitution T G intron_variant MALY-DE 13 70522467 70522467 single base substitution G T intron_variant MALY-DE 13 70522979 70522979 single base substitution T A intron_variant MALY-DE 13 70524822 70524822 single base substitution A T intron_variant MALY-DE 13 70525080 70525080 single base substitution T C intron_variant MALY-DE 13 70527638 70527638 single base substitution A C intron_variant MALY-DE 13 70531328 70531328 single base substitution C T intron_variant MALY-DE 13 70531797 70531797 single base substitution G A intron_variant MALY-DE 13 70531907 70531907 single base substitution C T intron_variant MALY-DE 13 70531926 70531926 single base substitution C T intron_variant MALY-DE 13 70532871 70532871 deletion of <=200bp A - intron_variant MALY-DE 13 70534527 70534527 single base substitution A T intron_variant MALY-DE 13 70534716 70534716 single base substitution T A intron_variant MALY-DE 13 70535038 70535038 single base substitution T G intron_variant MALY-DE 13 70535848 70535848 single base substitution A C intron_variant MALY-DE 13 70536821 70536821 single base substitution A C intron_variant MALY-DE 13 70538534 70538534 single base substitution G A intron_variant MALY-DE 13 70539820 70539820 single base substitution G A intron_variant MALY-DE 13 70542102 70542102 single base substitution C A intron_variant MALY-DE 13 70542819 70542819 single base substitution G T intron_variant MALY-DE 13 70542884 70542884 single base substitution C A intron_variant MALY-DE 13 70545583 70545583 single base substitution T G intron_variant MALY-DE 13 70546187 70546187 single base substitution A T intron_variant MALY-DE 13 70547025 70547025 single base substitution C A intron_variant MALY-DE 13 70548715 70548715 single base substitution A T intron_variant MALY-DE 13 70549079 70549079 single base substitution A T intron_variant MALY-DE 13 70549347 70549347 single base substitution C T intron_variant MALY-DE 13 70550879 70550879 single base substitution C T intron_variant MALY-DE 13 70553301 70553301 insertion of <=200bp - A intron_variant MALY-DE 13 70553670 70553670 single base substitution T G intron_variant MALY-DE 13 70553841 70553841 single base substitution C G intron_variant MALY-DE 13 70554915 70554915 single base substitution G A intron_variant MALY-DE 13 70555667 70555667 deletion of <=200bp A - intron_variant MALY-DE 13 70555667 70555667 single base substitution A G intron_variant MALY-DE 13 70555892 70555892 insertion of <=200bp - A intron_variant MALY-DE 13 70555914 70555914 single base substitution G C intron_variant MALY-DE 13 70556570 70556570 insertion of <=200bp - AAT intron_variant MALY-DE 13 70559079 70559079 insertion of <=200bp - A intron_variant MALY-DE 13 70559267 70559267 single base substitution C T intron_variant MALY-DE 13 70559908 70559909 deletion of <=200bp AT - intron_variant MALY-DE 13 70561249 70561249 single base substitution T G intron_variant MALY-DE 13 70563030 70563030 single base substitution C A intron_variant MALY-DE 13 70564257 70564257 single base substitution G T intron_variant MALY-DE 13 70565541 70565541 single base substitution C A intron_variant MALY-DE 13 70565847 70565847 single base substitution A C intron_variant MALY-DE 13 70565872 70565872 single base substitution G A intron_variant MALY-DE 13 70565975 70565975 single base substitution G T intron_variant MALY-DE 13 70566828 70566828 single base substitution A G intron_variant MALY-DE 13 70567074 70567074 single base substitution T G intron_variant MALY-DE 13 70567455 70567455 single base substitution A C intron_variant MALY-DE 13 70567972 70567972 single base substitution T A intron_variant MALY-DE 13 70571402 70571402 single base substitution T A intron_variant MALY-DE 13 70571690 70571690 single base substitution A C intron_variant MALY-DE 13 70571692 70571692 single base substitution T A intron_variant MALY-DE 13 70571906 70571906 single base substitution A T intron_variant MALY-DE 13 70576344 70576344 single base substitution G T intron_variant MALY-DE 13 70578068 70578068 single base substitution A G intron_variant MALY-DE 13 70578965 70578965 single base substitution A T intron_variant MALY-DE 13 70580672 70580672 single base substitution T C intron_variant MALY-DE 13 70581577 70581577 deletion of <=200bp A - intron_variant MALY-DE 13 70581577 70581577 insertion of <=200bp - AA intron_variant MALY-DE 13 70582924 70582924 single base substitution A G intron_variant MALY-DE 13 70583429 70583429 single base substitution C G intron_variant MALY-DE 13 70584305 70584305 single base substitution G T intron_variant MALY-DE 13 70584503 70584503 deletion of <=200bp A - intron_variant MALY-DE 13 70584525 70584525 single base substitution G A intron_variant MALY-DE 13 70586733 70586733 single base substitution T G intron_variant MALY-DE 13 70586877 70586877 single base substitution C A intron_variant MALY-DE 13 70587727 70587727 single base substitution A G intron_variant MALY-DE 13 70587801 70587801 single base substitution A G intron_variant MALY-DE 13 70588389 70588389 single base substitution T G intron_variant MALY-DE 13 70591376 70591376 single base substitution A G intron_variant MALY-DE 13 70596053 70596053 deletion of <=200bp T - intron_variant MALY-DE 13 70596158 70596158 single base substitution C T intron_variant MALY-DE 13 70596489 70596489 single base substitution G A intron_variant MALY-DE 13 70598084 70598084 single base substitution G C intron_variant MALY-DE 13 70600139 70600139 single base substitution C T intron_variant MALY-DE 13 70601203 70601203 single base substitution G T intron_variant MALY-DE 13 70601372 70601372 single base substitution C T intron_variant MALY-DE 13 70605530 70605530 deletion of <=200bp A - intron_variant MALY-DE 13 70605924 70605924 single base substitution T G intron_variant MALY-DE 13 70606507 70606507 single base substitution T G intron_variant MALY-DE 13 70608190 70608190 single base substitution A C intron_variant MALY-DE 13 70611025 70611025 single base substitution C A intron_variant MALY-DE 13 70611988 70611988 single base substitution A T intron_variant MALY-DE 13 70616215 70616215 deletion of <=200bp T - intron_variant MALY-DE 13 70616355 70616355 single base substitution G T intron_variant MALY-DE 13 70617372 70617372 deletion of <=200bp A - intron_variant MALY-DE 13 70618540 70618540 single base substitution T C intron_variant MALY-DE 13 70619310 70619310 single base substitution C A intron_variant MALY-DE 13 70620352 70620352 deletion of <=200bp A - intron_variant MALY-DE 13 70621013 70621013 deletion of <=200bp G - intron_variant MALY-DE 13 70622493 70622493 single base substitution T G intron_variant MALY-DE 13 70622989 70622989 single base substitution T A intron_variant MALY-DE 13 70623176 70623176 single base substitution A T intron_variant MALY-DE 13 70623736 70623736 single base substitution T C intron_variant MALY-DE 13 70624185 70624185 single base substitution A C intron_variant MALY-DE 13 70625058 70625058 single base substitution T C intron_variant MALY-DE 13 70626470 70626470 insertion of <=200bp - A intron_variant MALY-DE 13 70626539 70626539 single base substitution C A intron_variant MALY-DE 13 70627014 70627014 single base substitution T G intron_variant MALY-DE 13 70628988 70628988 single base substitution T G intron_variant MALY-DE 13 70628998 70628998 single base substitution T C intron_variant MALY-DE 13 70629881 70629881 single base substitution T A intron_variant MALY-DE 13 70629958 70629958 single base substitution A G intron_variant MALY-DE 13 70631857 70631857 single base substitution G A intron_variant MALY-DE 13 70634671 70634671 deletion of <=200bp A - intron_variant MALY-DE 13 70634747 70634747 single base substitution G A intron_variant MALY-DE 13 70635430 70635430 single base substitution G T intron_variant MALY-DE 13 70635727 70635733 deletion of <=200bp CCACAAT - intron_variant MALY-DE 13 70636095 70636095 single base substitution T C intron_variant MALY-DE 13 70637276 70637276 single base substitution T G intron_variant MALY-DE 13 70637716 70637716 single base substitution A C intron_variant MALY-DE 13 70638561 70638561 single base substitution G T intron_variant MALY-DE 13 70639934 70639934 single base substitution A C intron_variant MALY-DE 13 70640945 70640945 single base substitution A T intron_variant MALY-DE 13 70641338 70641338 single base substitution A T intron_variant MALY-DE 13 70641751 70641751 single base substitution C G intron_variant MALY-DE 13 70642918 70642918 single base substitution A G intron_variant MALY-DE 13 70646007 70646007 single base substitution A C intron_variant MALY-DE 13 70651099 70651099 single base substitution A C intron_variant MALY-DE 13 70651310 70651310 single base substitution A C intron_variant MALY-DE 13 70655057 70655057 single base substitution C G intron_variant MALY-DE 13 70657254 70657255 deletion of <=200bp AA - intron_variant MALY-DE 13 70657364 70657364 single base substitution C T intron_variant MALY-DE 13 70658089 70658089 single base substitution A T intron_variant MALY-DE 13 70658306 70658306 single base substitution T G intron_variant MALY-DE 13 70659094 70659094 single base substitution G C intron_variant MALY-DE 13 70659582 70659582 insertion of <=200bp - A intron_variant MALY-DE 13 70660029 70660029 single base substitution C G intron_variant MALY-DE 13 70660428 70660428 single base substitution G T intron_variant MALY-DE 13 70661392 70661392 single base substitution A G intron_variant MALY-DE 13 70661652 70661652 single base substitution A C intron_variant MALY-DE 13 70661779 70661779 single base substitution T C intron_variant MALY-DE 13 70661968 70661968 single base substitution C A intron_variant MALY-DE 13 70662081 70662081 single base substitution G A intron_variant MALY-DE 13 70662359 70662359 single base substitution C T intron_variant MALY-DE 13 70663376 70663376 single base substitution A T intron_variant MALY-DE 13 70663971 70663971 single base substitution T G intron_variant MALY-DE 13 70664892 70664892 single base substitution C A intron_variant MALY-DE 13 70665430 70665430 single base substitution C A intron_variant MALY-DE 13 70671091 70671091 single base substitution G T intron_variant MALY-DE 13 70671144 70671144 single base substitution A G intron_variant MALY-DE 13 70671620 70671620 single base substitution T G intron_variant MALY-DE 13 70676067 70676067 single base substitution C A intron_variant MALY-DE 13 70677314 70677314 single base substitution G T intron_variant MALY-DE 13 70677590 70677590 single base substitution A C intron_variant MALY-DE 13 70678276 70678276 single base substitution G T intron_variant MALY-DE 13 70680019 70680019 single base substitution C T intron_variant MALY-DE 13 70680048 70680048 single base substitution A G intron_variant MALY-DE 13 70680125 70680125 single base substitution A T intron_variant MALY-DE 13 70680258 70680258 single base substitution A C intron_variant MALY-DE 13 70680310 70680310 single base substitution A C intron_variant MALY-DE 13 70680520 70680520 single base substitution C A intron_variant MALY-DE 13 70680712 70680712 single base substitution C T intron_variant MALY-DE 13 70680877 70680877 single base substitution C T intron_variant MALY-DE 13 70682357 70682357 single base substitution C T 5_prime_UTR_variant MALY-DE 13 70682357 70682357 single base substitution C T upstream_gene_variant MALY-DE 13 70685935 70685935 single base substitution A G upstream_gene_variant MALY-DE 13 70686861 70686861 single base substitution A T upstream_gene_variant MALY-DE 13 70687096 70687096 single base substitution C T upstream_gene_variant MELA-AU 13 70269755 70269755 single base substitution C T downstream_gene_variant MELA-AU 13 70269844 70269844 single base substitution G A downstream_gene_variant MELA-AU 13 70269868 70269868 single base substitution A T downstream_gene_variant MELA-AU 13 70269952 70269952 deletion of <=200bp T - downstream_gene_variant MELA-AU 13 70269972 70269973 multiple base substitution (>=2bp and <=200bp) TT AC downstream_gene_variant MELA-AU 13 70270006 70270006 single base substitution C T downstream_gene_variant MELA-AU 13 70270166 70270166 single base substitution C T downstream_gene_variant MELA-AU 13 70270179 70270179 single base substitution C T downstream_gene_variant MELA-AU 13 70270182 70270182 single base substitution G A downstream_gene_variant MELA-AU 13 70270318 70270318 single base substitution C T downstream_gene_variant MELA-AU 13 70270469 70270469 single base substitution A T downstream_gene_variant MELA-AU 13 70270693 70270693 single base substitution G A downstream_gene_variant MELA-AU 13 70270704 70270704 single base substitution G A downstream_gene_variant MELA-AU 13 70270738 70270738 single base substitution C T downstream_gene_variant MELA-AU 13 70270789 70270789 single base substitution G A downstream_gene_variant MELA-AU 13 70270870 70270870 single base substitution C T downstream_gene_variant MELA-AU 13 70270909 70270909 single base substitution G A downstream_gene_variant MELA-AU 13 70270956 70270956 single base substitution T C downstream_gene_variant MELA-AU 13 70271027 70271027 single base substitution G A downstream_gene_variant MELA-AU 13 70271086 70271086 single base substitution C T downstream_gene_variant MELA-AU 13 70271119 70271119 single base substitution A T downstream_gene_variant MELA-AU 13 70271165 70271165 single base substitution G A downstream_gene_variant MELA-AU 13 70271221 70271221 single base substitution C T downstream_gene_variant MELA-AU 13 70271280 70271280 single base substitution G A downstream_gene_variant MELA-AU 13 70271337 70271337 single base substitution C T downstream_gene_variant MELA-AU 13 70271354 70271354 single base substitution G A downstream_gene_variant MELA-AU 13 70271418 70271418 single base substitution C T downstream_gene_variant MELA-AU 13 70271517 70271517 single base substitution C T downstream_gene_variant MELA-AU 13 70271721 70271721 single base substitution C T downstream_gene_variant MELA-AU 13 70271725 70271726 multiple base substitution (>=2bp and <=200bp) AG GA downstream_gene_variant MELA-AU 13 70271749 70271749 single base substitution G A downstream_gene_variant MELA-AU 13 70271884 70271884 single base substitution G A downstream_gene_variant MELA-AU 13 70271949 70271949 single base substitution G A downstream_gene_variant MELA-AU 13 70271972 70271972 single base substitution G A downstream_gene_variant MELA-AU 13 70271985 70271985 single base substitution T A downstream_gene_variant MELA-AU 13 70272019 70272019 single base substitution A C downstream_gene_variant MELA-AU 13 70272034 70272034 single base substitution G A downstream_gene_variant MELA-AU 13 70272110 70272110 single base substitution G A downstream_gene_variant MELA-AU 13 70272143 70272143 single base substitution G A downstream_gene_variant MELA-AU 13 70272153 70272153 single base substitution A T downstream_gene_variant MELA-AU 13 70272163 70272163 single base substitution C A downstream_gene_variant MELA-AU 13 70272526 70272526 single base substitution G A downstream_gene_variant MELA-AU 13 70272574 70272574 single base substitution G A downstream_gene_variant MELA-AU 13 70272588 70272588 single base substitution G A downstream_gene_variant MELA-AU 13 70272701 70272701 single base substitution C T downstream_gene_variant MELA-AU 13 70273063 70273063 single base substitution G A downstream_gene_variant MELA-AU 13 70273097 70273097 single base substitution G A downstream_gene_variant MELA-AU 13 70273135 70273135 single base substitution C T downstream_gene_variant MELA-AU 13 70273213 70273213 single base substitution G A downstream_gene_variant MELA-AU 13 70273229 70273229 single base substitution G A downstream_gene_variant MELA-AU 13 70273238 70273238 single base substitution G T downstream_gene_variant MELA-AU 13 70273244 70273244 single base substitution G A downstream_gene_variant MELA-AU 13 70273300 70273300 single base substitution C T downstream_gene_variant MELA-AU 13 70273373 70273373 single base substitution C T downstream_gene_variant MELA-AU 13 70273374 70273374 single base substitution C T downstream_gene_variant MELA-AU 13 70273386 70273386 single base substitution G A downstream_gene_variant MELA-AU 13 70273690 70273690 single base substitution A T downstream_gene_variant MELA-AU 13 70273835 70273835 single base substitution G A downstream_gene_variant MELA-AU 13 70273894 70273894 single base substitution G A downstream_gene_variant MELA-AU 13 70274014 70274014 single base substitution C T downstream_gene_variant MELA-AU 13 70274056 70274056 single base substitution G A downstream_gene_variant MELA-AU 13 70274061 70274061 single base substitution G A downstream_gene_variant MELA-AU 13 70274097 70274097 single base substitution G A downstream_gene_variant MELA-AU 13 70274232 70274233 multiple base substitution (>=2bp and <=200bp) CC TG downstream_gene_variant MELA-AU 13 70274309 70274309 single base substitution T C downstream_gene_variant MELA-AU 13 70274342 70274342 single base substitution G A downstream_gene_variant MELA-AU 13 70274451 70274451 single base substitution G A downstream_gene_variant MELA-AU 13 70274526 70274526 single base substitution G A downstream_gene_variant MELA-AU 13 70274566 70274566 single base substitution T A downstream_gene_variant MELA-AU 13 70274961 70274961 single base substitution G A 3_prime_UTR_variant MELA-AU 13 70274961 70274961 single base substitution G A downstream_gene_variant MELA-AU 13 70275309 70275309 single base substitution G A 3_prime_UTR_variant MELA-AU 13 70275309 70275309 single base substitution G A downstream_gene_variant MELA-AU 13 70275392 70275392 single base substitution A G 3_prime_UTR_variant MELA-AU 13 70275392 70275392 single base substitution A G downstream_gene_variant MELA-AU 13 70275410 70275410 single base substitution G C 3_prime_UTR_variant MELA-AU 13 70275410 70275410 single base substitution G C downstream_gene_variant MELA-AU 13 70275413 70275413 single base substitution G A 3_prime_UTR_variant MELA-AU 13 70275413 70275413 single base substitution G A downstream_gene_variant MELA-AU 13 70275421 70275421 single base substitution C T 3_prime_UTR_variant MELA-AU 13 70275421 70275421 single base substitution C T downstream_gene_variant MELA-AU 13 70275555 70275555 single base substitution G A 3_prime_UTR_variant MELA-AU 13 70275555 70275555 single base substitution G A downstream_gene_variant MELA-AU 13 70275611 70275611 single base substitution G A 3_prime_UTR_variant MELA-AU 13 70275611 70275611 single base substitution G A downstream_gene_variant MELA-AU 13 70275641 70275641 single base substitution C T 3_prime_UTR_variant MELA-AU 13 70275641 70275641 single base substitution C T downstream_gene_variant MELA-AU 13 70275755 70275755 single base substitution G A 3_prime_UTR_variant MELA-AU 13 70275885 70275885 single base substitution G A synonymous_variant S539S 1617C>T MELA-AU 13 70275885 70275885 single base substitution G A synonymous_variant S732S 2196C>T MELA-AU 13 70275926 70275926 single base substitution A T intron_variant MELA-AU 13 70276035 70276035 single base substitution G A intron_variant MELA-AU 13 70276299 70276299 single base substitution C T intron_variant MELA-AU 13 70276690 70276690 single base substitution A G intron_variant MELA-AU 13 70276758 70276758 single base substitution T G intron_variant MELA-AU 13 70276823 70276823 single base substitution C T intron_variant MELA-AU 13 70276850 70276850 single base substitution C T intron_variant MELA-AU 13 70276934 70276934 single base substitution T A intron_variant MELA-AU 13 70276969 70276969 single base substitution G A intron_variant MELA-AU 13 70276978 70276978 single base substitution C T intron_variant MELA-AU 13 70277186 70277186 single base substitution G A intron_variant MELA-AU 13 70277192 70277192 single base substitution C T intron_variant MELA-AU 13 70277262 70277262 single base substitution T C intron_variant MELA-AU 13 70277266 70277266 single base substitution C T intron_variant MELA-AU 13 70277343 70277343 single base substitution C T intron_variant MELA-AU 13 70277377 70277377 single base substitution G A intron_variant MELA-AU 13 70277410 70277410 single base substitution G A intron_variant MELA-AU 13 70277483 70277483 single base substitution G A intron_variant MELA-AU 13 70277629 70277629 single base substitution G A intron_variant MELA-AU 13 70277815 70277815 single base substitution C T intron_variant MELA-AU 13 70277990 70277990 single base substitution C T intron_variant MELA-AU 13 70278051 70278051 single base substitution G A intron_variant MELA-AU 13 70278080 70278080 single base substitution G A intron_variant MELA-AU 13 70278102 70278102 single base substitution C T intron_variant MELA-AU 13 70278247 70278247 single base substitution C T intron_variant MELA-AU 13 70278418 70278418 single base substitution C T intron_variant MELA-AU 13 70278475 70278475 single base substitution A G intron_variant MELA-AU 13 70278709 70278709 single base substitution G A intron_variant MELA-AU 13 70278836 70278836 single base substitution C T intron_variant MELA-AU 13 70279073 70279073 single base substitution G A intron_variant MELA-AU 13 70279451 70279451 single base substitution T C intron_variant MELA-AU 13 70279497 70279497 single base substitution G A intron_variant MELA-AU 13 70279549 70279549 single base substitution C T intron_variant MELA-AU 13 70279685 70279685 single base substitution G A intron_variant MELA-AU 13 70279706 70279706 single base substitution G A intron_variant MELA-AU 13 70279938 70279938 single base substitution G A intron_variant MELA-AU 13 70279944 70279944 single base substitution G A intron_variant MELA-AU 13 70279998 70279998 single base substitution C T intron_variant MELA-AU 13 70280086 70280086 single base substitution C T intron_variant MELA-AU 13 70280148 70280148 single base substitution C T intron_variant MELA-AU 13 70280255 70280255 single base substitution T G intron_variant MELA-AU 13 70280271 70280271 single base substitution C T intron_variant MELA-AU 13 70280369 70280369 single base substitution C T intron_variant MELA-AU 13 70280392 70280392 single base substitution C T intron_variant MELA-AU 13 70280588 70280588 single base substitution G A intron_variant MELA-AU 13 70280785 70280785 single base substitution G A intron_variant MELA-AU 13 70280836 70280836 single base substitution G A intron_variant MELA-AU 13 70281167 70281167 single base substitution G A intron_variant MELA-AU 13 70281218 70281218 single base substitution C T intron_variant MELA-AU 13 70281503 70281503 single base substitution C T intron_variant MELA-AU 13 70281709 70281709 single base substitution G A intron_variant MELA-AU 13 70281720 70281720 single base substitution T C intron_variant MELA-AU 13 70281853 70281853 single base substitution G A synonymous_variant L504L 1512C>T MELA-AU 13 70281853 70281853 single base substitution G A synonymous_variant L697L 2091C>T MELA-AU 13 70281912 70281912 single base substitution C T missense_variant D485N 1453G>A MELA-AU 13 70281912 70281912 single base substitution C T missense_variant D678N 2032G>A MELA-AU 13 70281924 70281924 single base substitution C T missense_variant D481N 1441G>A MELA-AU 13 70281924 70281924 single base substitution C T missense_variant D674N 2020G>A MELA-AU 13 70281982 70281982 single base substitution C T intron_variant MELA-AU 13 70282007 70282007 single base substitution G A intron_variant MELA-AU 13 70282022 70282022 single base substitution G A intron_variant MELA-AU 13 70282023 70282023 single base substitution G A intron_variant MELA-AU 13 70282224 70282224 single base substitution C A intron_variant MELA-AU 13 70282506 70282506 single base substitution A G intron_variant MELA-AU 13 70282509 70282509 single base substitution C A intron_variant MELA-AU 13 70282509 70282509 single base substitution C T intron_variant MELA-AU 13 70282577 70282577 single base substitution G A intron_variant MELA-AU 13 70282725 70282725 single base substitution G A intron_variant MELA-AU 13 70283149 70283149 single base substitution T A intron_variant MELA-AU 13 70283192 70283192 single base substitution G A intron_variant MELA-AU 13 70283240 70283240 single base substitution G A intron_variant MELA-AU 13 70283266 70283266 single base substitution G T intron_variant MELA-AU 13 70283450 70283450 single base substitution G A intron_variant MELA-AU 13 70283568 70283568 single base substitution G A intron_variant MELA-AU 13 70283583 70283583 single base substitution A T intron_variant MELA-AU 13 70283732 70283732 single base substitution A G intron_variant MELA-AU 13 70283791 70283791 single base substitution G A intron_variant MELA-AU 13 70283876 70283876 single base substitution G A intron_variant MELA-AU 13 70283937 70283937 single base substitution C T intron_variant MELA-AU 13 70284574 70284574 single base substitution A T intron_variant MELA-AU 13 70284975 70284975 single base substitution G A intron_variant MELA-AU 13 70285241 70285241 single base substitution C T intron_variant MELA-AU 13 70285280 70285280 single base substitution G A intron_variant MELA-AU 13 70285292 70285292 single base substitution A G intron_variant MELA-AU 13 70285348 70285348 single base substitution G A intron_variant MELA-AU 13 70285367 70285367 deletion of <=200bp A - intron_variant MELA-AU 13 70285389 70285389 single base substitution A G intron_variant MELA-AU 13 70285535 70285535 single base substitution C T intron_variant MELA-AU 13 70285601 70285601 single base substitution C T intron_variant MELA-AU 13 70285803 70285803 single base substitution A G intron_variant MELA-AU 13 70285860 70285860 single base substitution G A intron_variant MELA-AU 13 70285875 70285875 single base substitution G A intron_variant MELA-AU 13 70286060 70286060 single base substitution G A intron_variant MELA-AU 13 70286089 70286089 single base substitution C T intron_variant MELA-AU 13 70286145 70286145 single base substitution G A intron_variant MELA-AU 13 70286166 70286166 single base substitution C A intron_variant MELA-AU 13 70286193 70286193 single base substitution C T intron_variant MELA-AU 13 70286198 70286198 single base substitution C T intron_variant MELA-AU 13 70286726 70286726 single base substitution C T intron_variant MELA-AU 13 70286796 70286796 single base substitution C T intron_variant MELA-AU 13 70286935 70286935 single base substitution G A intron_variant MELA-AU 13 70287030 70287030 single base substitution C T intron_variant MELA-AU 13 70287121 70287121 single base substitution A T intron_variant MELA-AU 13 70287149 70287149 single base substitution A C intron_variant MELA-AU 13 70287187 70287187 single base substitution C T intron_variant MELA-AU 13 70287219 70287219 single base substitution C T intron_variant MELA-AU 13 70287339 70287339 single base substitution G A intron_variant MELA-AU 13 70287348 70287348 single base substitution C T intron_variant MELA-AU 13 70287448 70287448 single base substitution C T intron_variant MELA-AU 13 70287497 70287497 single base substitution C T intron_variant MELA-AU 13 70287506 70287506 single base substitution G A intron_variant MELA-AU 13 70287512 70287512 single base substitution C T intron_variant MELA-AU 13 70287607 70287607 single base substitution T A intron_variant MELA-AU 13 70287630 70287630 single base substitution T C intron_variant MELA-AU 13 70287634 70287634 single base substitution C T intron_variant MELA-AU 13 70287642 70287642 single base substitution C T intron_variant MELA-AU 13 70287763 70287763 single base substitution C T intron_variant MELA-AU 13 70287795 70287795 single base substitution A T intron_variant MELA-AU 13 70287848 70287848 single base substitution C T intron_variant MELA-AU 13 70287872 70287872 single base substitution C T intron_variant MELA-AU 13 70287934 70287934 single base substitution T A intron_variant MELA-AU 13 70287978 70287978 single base substitution C T intron_variant MELA-AU 13 70288180 70288180 single base substitution G A intron_variant MELA-AU 13 70288208 70288208 single base substitution C T intron_variant MELA-AU 13 70288251 70288251 single base substitution G A intron_variant MELA-AU 13 70288252 70288252 single base substitution G A intron_variant MELA-AU 13 70288285 70288285 single base substitution C T intron_variant MELA-AU 13 70288325 70288325 single base substitution T A intron_variant MELA-AU 13 70288668 70288668 single base substitution G A intron_variant MELA-AU 13 70288729 70288729 single base substitution A C intron_variant MELA-AU 13 70288760 70288760 single base substitution C T intron_variant MELA-AU 13 70288807 70288807 single base substitution C T intron_variant MELA-AU 13 70288820 70288820 single base substitution G A intron_variant MELA-AU 13 70288936 70288936 single base substitution G A intron_variant MELA-AU 13 70289031 70289031 single base substitution C T intron_variant MELA-AU 13 70289061 70289061 single base substitution C T intron_variant MELA-AU 13 70289126 70289126 single base substitution C T intron_variant MELA-AU 13 70289350 70289350 single base substitution C T intron_variant MELA-AU 13 70289412 70289412 single base substitution G A intron_variant MELA-AU 13 70289417 70289417 single base substitution G A intron_variant MELA-AU 13 70289434 70289434 single base substitution C T intron_variant MELA-AU 13 70289513 70289513 single base substitution C T intron_variant MELA-AU 13 70289521 70289521 single base substitution C T intron_variant MELA-AU 13 70289542 70289542 single base substitution G A intron_variant MELA-AU 13 70289683 70289683 single base substitution C T intron_variant MELA-AU 13 70289716 70289716 single base substitution G A intron_variant MELA-AU 13 70289755 70289755 single base substitution G A intron_variant MELA-AU 13 70289776 70289776 single base substitution T G intron_variant MELA-AU 13 70289954 70289954 single base substitution G A intron_variant MELA-AU 13 70290077 70290077 single base substitution C T intron_variant MELA-AU 13 70290105 70290105 single base substitution C T intron_variant MELA-AU 13 70290132 70290133 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 13 70290189 70290189 single base substitution A G intron_variant MELA-AU 13 70290336 70290336 single base substitution C T intron_variant MELA-AU 13 70290377 70290377 single base substitution C T intron_variant MELA-AU 13 70290612 70290612 single base substitution C T intron_variant MELA-AU 13 70290643 70290643 single base substitution C T intron_variant MELA-AU 13 70290772 70290772 single base substitution G A intron_variant MELA-AU 13 70290773 70290773 single base substitution G A intron_variant MELA-AU 13 70290786 70290786 single base substitution C T intron_variant MELA-AU 13 70290820 70290820 single base substitution C T intron_variant MELA-AU 13 70290843 70290843 single base substitution T C intron_variant MELA-AU 13 70290971 70290971 single base substitution G A intron_variant MELA-AU 13 70290996 70290996 single base substitution G A intron_variant MELA-AU 13 70291083 70291083 single base substitution G C intron_variant MELA-AU 13 70291112 70291112 single base substitution C T intron_variant MELA-AU 13 70291481 70291481 single base substitution G A intron_variant MELA-AU 13 70291561 70291561 single base substitution A C intron_variant MELA-AU 13 70291633 70291633 single base substitution G A intron_variant MELA-AU 13 70291756 70291756 single base substitution G A intron_variant MELA-AU 13 70291804 70291804 single base substitution G A intron_variant MELA-AU 13 70291807 70291807 single base substitution G A intron_variant MELA-AU 13 70292130 70292130 single base substitution C T intron_variant MELA-AU 13 70292165 70292165 single base substitution C T intron_variant MELA-AU 13 70292218 70292218 single base substitution C T intron_variant MELA-AU 13 70292265 70292265 single base substitution G A intron_variant MELA-AU 13 70292327 70292327 single base substitution G A intron_variant MELA-AU 13 70292371 70292371 single base substitution G A intron_variant MELA-AU 13 70292506 70292506 single base substitution C T intron_variant MELA-AU 13 70292533 70292533 single base substitution C T intron_variant MELA-AU 13 70292540 70292540 single base substitution C T intron_variant MELA-AU 13 70292554 70292554 single base substitution C T intron_variant MELA-AU 13 70292603 70292603 single base substitution G A intron_variant MELA-AU 13 70292718 70292718 single base substitution C A intron_variant MELA-AU 13 70292723 70292723 single base substitution G A intron_variant MELA-AU 13 70292748 70292748 single base substitution G A intron_variant MELA-AU 13 70293039 70293039 single base substitution G A intron_variant MELA-AU 13 70293049 70293049 single base substitution C T intron_variant MELA-AU 13 70293170 70293170 single base substitution C T intron_variant MELA-AU 13 70293284 70293284 single base substitution G A intron_variant MELA-AU 13 70293355 70293355 single base substitution A C intron_variant MELA-AU 13 70293473 70293473 single base substitution C T intron_variant MELA-AU 13 70293501 70293501 single base substitution C T missense_variant R479K 1436G>A MELA-AU 13 70293501 70293501 single base substitution C T missense_variant R672K 2015G>A MELA-AU 13 70293512 70293512 single base substitution A G synonymous_variant D475D 1425T>C MELA-AU 13 70293512 70293512 single base substitution A G synonymous_variant D668D 2004T>C MELA-AU 13 70293634 70293634 single base substitution T C missense_variant N435D 1303A>G MELA-AU 13 70293634 70293634 single base substitution T C missense_variant N628D 1882A>G MELA-AU 13 70293636 70293636 single base substitution C T stop_gained W434* 1301G>A MELA-AU 13 70293636 70293636 single base substitution C T stop_gained W627* 1880G>A MELA-AU 13 70293655 70293655 single base substitution C T missense_variant D428N 1282G>A MELA-AU 13 70293655 70293655 single base substitution C T missense_variant D621N 1861G>A MELA-AU 13 70293687 70293687 single base substitution C T missense_variant G417E 1250G>A MELA-AU 13 70293687 70293687 single base substitution C T missense_variant G610E 1829G>A MELA-AU 13 70293841 70293841 single base substitution G A intron_variant MELA-AU 13 70293968 70293968 single base substitution G A intron_variant MELA-AU 13 70294163 70294163 single base substitution C T intron_variant MELA-AU 13 70294266 70294266 single base substitution G A intron_variant MELA-AU 13 70294398 70294398 single base substitution G T intron_variant MELA-AU 13 70294466 70294466 single base substitution G A intron_variant MELA-AU 13 70294752 70294752 single base substitution G A intron_variant MELA-AU 13 70294831 70294831 single base substitution G A intron_variant MELA-AU 13 70294856 70294856 single base substitution G A intron_variant MELA-AU 13 70295104 70295104 single base substitution C T intron_variant MELA-AU 13 70295280 70295280 single base substitution C T intron_variant MELA-AU 13 70295393 70295393 single base substitution C T intron_variant MELA-AU 13 70295404 70295404 single base substitution C T intron_variant MELA-AU 13 70295509 70295509 single base substitution C T intron_variant MELA-AU 13 70295615 70295615 single base substitution G A intron_variant MELA-AU 13 70295620 70295620 single base substitution C T intron_variant MELA-AU 13 70295627 70295627 single base substitution G A intron_variant MELA-AU 13 70295627 70295627 single base substitution G T intron_variant MELA-AU 13 70295629 70295629 single base substitution A T intron_variant MELA-AU 13 70295658 70295658 single base substitution C T intron_variant MELA-AU 13 70295721 70295721 single base substitution G A intron_variant MELA-AU 13 70295785 70295785 single base substitution C T intron_variant MELA-AU 13 70295912 70295912 single base substitution G C intron_variant MELA-AU 13 70295996 70295996 single base substitution G A intron_variant MELA-AU 13 70296098 70296098 single base substitution G A intron_variant MELA-AU 13 70296111 70296111 single base substitution C T intron_variant MELA-AU 13 70296322 70296322 single base substitution C T intron_variant MELA-AU 13 70296395 70296395 single base substitution G A intron_variant MELA-AU 13 70296459 70296459 single base substitution T C intron_variant MELA-AU 13 70296461 70296461 single base substitution C T intron_variant MELA-AU 13 70296539 70296539 single base substitution G A intron_variant MELA-AU 13 70296561 70296561 single base substitution G A intron_variant MELA-AU 13 70296649 70296649 single base substitution G A intron_variant MELA-AU 13 70296737 70296737 single base substitution C T intron_variant MELA-AU 13 70296809 70296809 single base substitution G A intron_variant MELA-AU 13 70296847 70296847 single base substitution G A intron_variant MELA-AU 13 70296859 70296859 single base substitution G A intron_variant MELA-AU 13 70296872 70296872 single base substitution G A intron_variant MELA-AU 13 70296890 70296891 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 13 70296969 70296969 single base substitution G A intron_variant MELA-AU 13 70297234 70297234 single base substitution C A intron_variant MELA-AU 13 70297315 70297315 single base substitution G A intron_variant MELA-AU 13 70297319 70297320 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 70297581 70297581 deletion of <=200bp T - intron_variant MELA-AU 13 70297670 70297670 single base substitution C T intron_variant MELA-AU 13 70297678 70297678 single base substitution C T intron_variant MELA-AU 13 70297679 70297679 single base substitution C T intron_variant MELA-AU 13 70297684 70297684 single base substitution G A intron_variant MELA-AU 13 70297788 70297788 single base substitution C T intron_variant MELA-AU 13 70297875 70297875 single base substitution C T intron_variant MELA-AU 13 70297970 70297970 single base substitution G A intron_variant MELA-AU 13 70297979 70297979 insertion of <=200bp - TTC intron_variant MELA-AU 13 70297981 70297981 single base substitution T C intron_variant MELA-AU 13 70298033 70298033 single base substitution G A intron_variant MELA-AU 13 70298061 70298061 single base substitution C T intron_variant MELA-AU 13 70298189 70298189 single base substitution G A intron_variant MELA-AU 13 70298197 70298197 single base substitution G A intron_variant MELA-AU 13 70298237 70298237 single base substitution G A intron_variant MELA-AU 13 70298278 70298278 single base substitution A C intron_variant MELA-AU 13 70298280 70298280 single base substitution A T intron_variant MELA-AU 13 70298346 70298346 single base substitution G T intron_variant MELA-AU 13 70298443 70298443 single base substitution C T intron_variant MELA-AU 13 70298494 70298494 single base substitution A T intron_variant MELA-AU 13 70298516 70298516 single base substitution C T intron_variant MELA-AU 13 70298585 70298585 single base substitution C T intron_variant MELA-AU 13 70298709 70298709 single base substitution C T intron_variant MELA-AU 13 70298862 70298862 single base substitution A G intron_variant MELA-AU 13 70298864 70298864 single base substitution G A intron_variant MELA-AU 13 70298870 70298870 single base substitution A T intron_variant MELA-AU 13 70298975 70298975 single base substitution A G intron_variant MELA-AU 13 70299038 70299038 single base substitution G A intron_variant MELA-AU 13 70299063 70299063 single base substitution C T intron_variant MELA-AU 13 70299089 70299089 single base substitution C T intron_variant MELA-AU 13 70299100 70299100 single base substitution C T intron_variant MELA-AU 13 70299109 70299109 single base substitution G A intron_variant MELA-AU 13 70299156 70299156 single base substitution C T intron_variant MELA-AU 13 70299166 70299166 single base substitution G A intron_variant MELA-AU 13 70299239 70299239 single base substitution G A intron_variant MELA-AU 13 70299500 70299500 single base substitution G A intron_variant MELA-AU 13 70299792 70299792 single base substitution G A intron_variant MELA-AU 13 70299802 70299802 single base substitution G A intron_variant MELA-AU 13 70299842 70299842 single base substitution G A intron_variant MELA-AU 13 70299920 70299920 single base substitution C T intron_variant MELA-AU 13 70299974 70299974 single base substitution C T intron_variant MELA-AU 13 70299977 70299977 single base substitution G A intron_variant MELA-AU 13 70300110 70300110 single base substitution C G intron_variant MELA-AU 13 70300169 70300169 single base substitution G A intron_variant MELA-AU 13 70300217 70300217 single base substitution A G intron_variant MELA-AU 13 70300240 70300240 single base substitution G T intron_variant MELA-AU 13 70300336 70300336 single base substitution C T intron_variant MELA-AU 13 70300398 70300398 single base substitution G A intron_variant MELA-AU 13 70300399 70300399 single base substitution G A intron_variant MELA-AU 13 70300424 70300424 single base substitution C T intron_variant MELA-AU 13 70300540 70300540 single base substitution C T intron_variant MELA-AU 13 70300559 70300560 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 70300583 70300583 single base substitution G A intron_variant MELA-AU 13 70300800 70300800 single base substitution A T intron_variant MELA-AU 13 70300987 70300987 single base substitution G A intron_variant MELA-AU 13 70301019 70301019 single base substitution C T intron_variant MELA-AU 13 70301105 70301105 single base substitution G A intron_variant MELA-AU 13 70301118 70301118 single base substitution G A intron_variant MELA-AU 13 70301170 70301170 single base substitution G A intron_variant MELA-AU 13 70301210 70301210 single base substitution G A intron_variant MELA-AU 13 70301310 70301310 single base substitution T C intron_variant MELA-AU 13 70301502 70301502 single base substitution G T intron_variant MELA-AU 13 70301583 70301583 single base substitution A T intron_variant MELA-AU 13 70301714 70301714 single base substitution G A intron_variant MELA-AU 13 70301832 70301832 single base substitution T C intron_variant MELA-AU 13 70301910 70301910 single base substitution C T intron_variant MELA-AU 13 70301941 70301941 single base substitution G A intron_variant MELA-AU 13 70302019 70302019 single base substitution C T intron_variant MELA-AU 13 70302046 70302046 single base substitution G A intron_variant MELA-AU 13 70302089 70302089 single base substitution G T intron_variant MELA-AU 13 70302127 70302127 single base substitution C T intron_variant MELA-AU 13 70302254 70302254 single base substitution G A intron_variant MELA-AU 13 70302296 70302296 single base substitution G A intron_variant MELA-AU 13 70302356 70302356 single base substitution G A intron_variant MELA-AU 13 70302418 70302418 single base substitution G A intron_variant MELA-AU 13 70302573 70302573 single base substitution G A intron_variant MELA-AU 13 70302637 70302637 single base substitution C T intron_variant MELA-AU 13 70302866 70302866 single base substitution G A intron_variant MELA-AU 13 70302960 70302960 single base substitution G A intron_variant MELA-AU 13 70302984 70302984 single base substitution G A intron_variant MELA-AU 13 70302995 70302995 single base substitution C T intron_variant MELA-AU 13 70303010 70303010 single base substitution G A intron_variant MELA-AU 13 70303020 70303020 single base substitution C T intron_variant MELA-AU 13 70303050 70303050 single base substitution G A intron_variant MELA-AU 13 70303051 70303051 single base substitution G A intron_variant MELA-AU 13 70303071 70303089 deletion of <=200bp TAAAATTCAAGCCTACTTA - intron_variant MELA-AU 13 70303256 70303256 single base substitution G A intron_variant MELA-AU 13 70303412 70303412 single base substitution G A intron_variant MELA-AU 13 70303425 70303425 single base substitution T A intron_variant MELA-AU 13 70303440 70303440 single base substitution C T intron_variant MELA-AU 13 70303517 70303517 deletion of <=200bp T - intron_variant MELA-AU 13 70303566 70303566 single base substitution G A intron_variant MELA-AU 13 70303593 70303593 single base substitution G A intron_variant MELA-AU 13 70303640 70303640 single base substitution A C intron_variant MELA-AU 13 70303649 70303649 single base substitution G A intron_variant MELA-AU 13 70303657 70303657 single base substitution C T intron_variant MELA-AU 13 70303675 70303675 single base substitution G A intron_variant MELA-AU 13 70303771 70303771 single base substitution G A intron_variant MELA-AU 13 70303782 70303782 single base substitution G A intron_variant MELA-AU 13 70303899 70303899 single base substitution G A intron_variant MELA-AU 13 70303961 70303961 single base substitution C T intron_variant MELA-AU 13 70304028 70304028 single base substitution C T intron_variant MELA-AU 13 70304202 70304202 single base substitution C T intron_variant MELA-AU 13 70304217 70304217 single base substitution G A intron_variant MELA-AU 13 70304333 70304333 single base substitution G T intron_variant MELA-AU 13 70304375 70304375 single base substitution G A intron_variant MELA-AU 13 70304527 70304527 single base substitution C T intron_variant MELA-AU 13 70304556 70304556 single base substitution T A intron_variant MELA-AU 13 70304634 70304634 single base substitution G A intron_variant MELA-AU 13 70304696 70304696 single base substitution G A intron_variant MELA-AU 13 70304698 70304698 single base substitution G A intron_variant MELA-AU 13 70304811 70304811 single base substitution C T intron_variant MELA-AU 13 70304926 70304926 single base substitution G A intron_variant MELA-AU 13 70305008 70305008 single base substitution G A intron_variant MELA-AU 13 70305181 70305181 single base substitution C T intron_variant MELA-AU 13 70305338 70305338 single base substitution C T intron_variant MELA-AU 13 70305364 70305364 single base substitution G A intron_variant MELA-AU 13 70305365 70305365 single base substitution G A intron_variant MELA-AU 13 70305419 70305419 single base substitution G A intron_variant MELA-AU 13 70305690 70305690 single base substitution G C intron_variant MELA-AU 13 70305787 70305787 single base substitution A G intron_variant MELA-AU 13 70305793 70305793 single base substitution G A intron_variant MELA-AU 13 70305824 70305824 single base substitution C T intron_variant MELA-AU 13 70305982 70305982 single base substitution A T intron_variant MELA-AU 13 70305992 70305992 single base substitution G A intron_variant MELA-AU 13 70305998 70305998 single base substitution C T intron_variant MELA-AU 13 70306049 70306049 single base substitution C T intron_variant MELA-AU 13 70306137 70306137 single base substitution G A intron_variant MELA-AU 13 70306172 70306172 single base substitution G A intron_variant MELA-AU 13 70306213 70306213 single base substitution G A intron_variant MELA-AU 13 70306218 70306218 single base substitution C T intron_variant MELA-AU 13 70306272 70306272 single base substitution G A intron_variant MELA-AU 13 70306326 70306326 single base substitution G A intron_variant MELA-AU 13 70306470 70306470 single base substitution C T intron_variant MELA-AU 13 70306587 70306587 single base substitution G A intron_variant MELA-AU 13 70306838 70306838 single base substitution G A intron_variant MELA-AU 13 70306906 70306906 single base substitution C T intron_variant MELA-AU 13 70306964 70306964 single base substitution G A intron_variant MELA-AU 13 70306986 70306986 single base substitution C T intron_variant MELA-AU 13 70307080 70307080 single base substitution C T intron_variant MELA-AU 13 70307219 70307219 single base substitution T A intron_variant MELA-AU 13 70307291 70307291 single base substitution T C intron_variant MELA-AU 13 70307390 70307390 single base substitution C T intron_variant MELA-AU 13 70307601 70307601 single base substitution G A intron_variant MELA-AU 13 70307607 70307607 single base substitution G A intron_variant MELA-AU 13 70307635 70307635 single base substitution C T intron_variant MELA-AU 13 70307649 70307649 single base substitution G A intron_variant MELA-AU 13 70307678 70307678 single base substitution G A intron_variant MELA-AU 13 70307749 70307749 single base substitution C T intron_variant MELA-AU 13 70307793 70307793 single base substitution G A intron_variant MELA-AU 13 70307969 70307969 single base substitution C T intron_variant MELA-AU 13 70308013 70308013 single base substitution G A intron_variant MELA-AU 13 70308064 70308064 single base substitution G A intron_variant MELA-AU 13 70308073 70308073 single base substitution G A intron_variant MELA-AU 13 70308241 70308241 single base substitution G A intron_variant MELA-AU 13 70308349 70308349 single base substitution G A intron_variant MELA-AU 13 70308361 70308361 single base substitution C T intron_variant MELA-AU 13 70308420 70308420 single base substitution C T intron_variant MELA-AU 13 70308457 70308457 single base substitution C T intron_variant MELA-AU 13 70308641 70308641 single base substitution G A intron_variant MELA-AU 13 70308648 70308648 single base substitution G T intron_variant MELA-AU 13 70308655 70308655 single base substitution G A intron_variant MELA-AU 13 70308696 70308696 single base substitution C T intron_variant MELA-AU 13 70308993 70308993 single base substitution G A intron_variant MELA-AU 13 70309094 70309094 single base substitution G A intron_variant MELA-AU 13 70309169 70309169 single base substitution G A intron_variant MELA-AU 13 70309247 70309247 single base substitution C T intron_variant MELA-AU 13 70309257 70309257 single base substitution G A intron_variant MELA-AU 13 70309328 70309328 single base substitution C T intron_variant MELA-AU 13 70309467 70309467 single base substitution C T intron_variant MELA-AU 13 70309517 70309517 single base substitution G A intron_variant MELA-AU 13 70309555 70309555 single base substitution T G intron_variant MELA-AU 13 70309732 70309732 single base substitution T A intron_variant MELA-AU 13 70309735 70309735 single base substitution A T intron_variant MELA-AU 13 70309857 70309857 single base substitution T C intron_variant MELA-AU 13 70309861 70309861 single base substitution A C intron_variant MELA-AU 13 70309916 70309916 single base substitution G A intron_variant MELA-AU 13 70309923 70309923 single base substitution C T intron_variant MELA-AU 13 70309929 70309929 single base substitution G A intron_variant MELA-AU 13 70309951 70309951 single base substitution A C intron_variant MELA-AU 13 70310080 70310080 single base substitution C T intron_variant MELA-AU 13 70310117 70310117 single base substitution G A intron_variant MELA-AU 13 70310278 70310278 single base substitution A C intron_variant MELA-AU 13 70310300 70310300 single base substitution A G intron_variant MELA-AU 13 70310303 70310303 single base substitution G A intron_variant MELA-AU 13 70310340 70310340 single base substitution C T intron_variant MELA-AU 13 70310444 70310444 single base substitution G A intron_variant MELA-AU 13 70310460 70310460 single base substitution C T intron_variant MELA-AU 13 70310485 70310485 single base substitution C T intron_variant MELA-AU 13 70310571 70310571 single base substitution G A intron_variant MELA-AU 13 70310613 70310613 single base substitution G T intron_variant MELA-AU 13 70310638 70310638 single base substitution G A intron_variant MELA-AU 13 70310661 70310661 single base substitution C T intron_variant MELA-AU 13 70310709 70310709 single base substitution G A intron_variant MELA-AU 13 70310909 70310909 single base substitution G A intron_variant MELA-AU 13 70310944 70310944 single base substitution G A intron_variant MELA-AU 13 70311025 70311025 single base substitution G A intron_variant MELA-AU 13 70311080 70311080 single base substitution G A intron_variant MELA-AU 13 70311236 70311236 single base substitution C T intron_variant MELA-AU 13 70311302 70311302 single base substitution C T intron_variant MELA-AU 13 70311319 70311319 single base substitution C T intron_variant MELA-AU 13 70311347 70311347 single base substitution C T intron_variant MELA-AU 13 70311380 70311380 single base substitution A T intron_variant MELA-AU 13 70311464 70311464 single base substitution C T intron_variant MELA-AU 13 70311471 70311471 single base substitution G A intron_variant MELA-AU 13 70311497 70311497 single base substitution G A intron_variant MELA-AU 13 70311601 70311601 single base substitution G A intron_variant MELA-AU 13 70311672 70311672 single base substitution C T intron_variant MELA-AU 13 70311673 70311673 single base substitution C T intron_variant MELA-AU 13 70311713 70311713 single base substitution G A intron_variant MELA-AU 13 70311732 70311732 single base substitution G A intron_variant MELA-AU 13 70311734 70311734 single base substitution G A intron_variant MELA-AU 13 70311756 70311756 single base substitution C T intron_variant MELA-AU 13 70311782 70311782 single base substitution G C intron_variant MELA-AU 13 70311822 70311822 single base substitution T A intron_variant MELA-AU 13 70311824 70311824 single base substitution G A intron_variant MELA-AU 13 70311825 70311825 single base substitution G A intron_variant MELA-AU 13 70311825 70311826 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 13 70311847 70311847 single base substitution G A intron_variant MELA-AU 13 70311872 70311872 single base substitution C T intron_variant MELA-AU 13 70311912 70311912 single base substitution C T intron_variant MELA-AU 13 70311986 70311986 single base substitution C T intron_variant MELA-AU 13 70312048 70312048 single base substitution G A intron_variant MELA-AU 13 70312060 70312060 single base substitution C T intron_variant MELA-AU 13 70312204 70312204 single base substitution G A intron_variant MELA-AU 13 70312252 70312252 single base substitution T C intron_variant MELA-AU 13 70312306 70312306 single base substitution G A intron_variant MELA-AU 13 70312342 70312342 single base substitution G A intron_variant MELA-AU 13 70312358 70312358 single base substitution A T intron_variant MELA-AU 13 70312367 70312367 single base substitution C T intron_variant MELA-AU 13 70312391 70312391 single base substitution C T intron_variant MELA-AU 13 70312471 70312471 single base substitution C T intron_variant MELA-AU 13 70312482 70312482 single base substitution G A intron_variant MELA-AU 13 70312781 70312781 single base substitution C T intron_variant MELA-AU 13 70312849 70312849 single base substitution G A intron_variant MELA-AU 13 70312927 70312927 single base substitution T C intron_variant MELA-AU 13 70312986 70312986 single base substitution C T intron_variant MELA-AU 13 70313018 70313018 single base substitution C T intron_variant MELA-AU 13 70313021 70313021 single base substitution G A intron_variant MELA-AU 13 70313045 70313045 single base substitution T A intron_variant MELA-AU 13 70313090 70313090 single base substitution G A intron_variant MELA-AU 13 70313098 70313098 single base substitution C T intron_variant MELA-AU 13 70313099 70313099 single base substitution G A intron_variant MELA-AU 13 70313121 70313121 single base substitution G A intron_variant MELA-AU 13 70313134 70313134 single base substitution G A intron_variant MELA-AU 13 70313141 70313141 single base substitution C A intron_variant MELA-AU 13 70313301 70313301 single base substitution G A intron_variant MELA-AU 13 70313400 70313400 single base substitution G A intron_variant MELA-AU 13 70313404 70313404 single base substitution G A intron_variant MELA-AU 13 70313517 70313517 single base substitution C T intron_variant MELA-AU 13 70313541 70313541 single base substitution C T intron_variant MELA-AU 13 70313571 70313571 single base substitution T A intron_variant MELA-AU 13 70313682 70313682 single base substitution G A intron_variant MELA-AU 13 70313784 70313784 single base substitution C T intron_variant MELA-AU 13 70313817 70313817 single base substitution A C intron_variant MELA-AU 13 70313822 70313822 single base substitution G A intron_variant MELA-AU 13 70314359 70314359 single base substitution C T intron_variant MELA-AU 13 70314360 70314360 single base substitution G A intron_variant MELA-AU 13 70314435 70314435 single base substitution T A intron_variant MELA-AU 13 70314560 70314560 single base substitution G A missense_variant R397W 1189C>T MELA-AU 13 70314560 70314560 single base substitution G A missense_variant R590W 1768C>T MELA-AU 13 70314837 70314837 single base substitution G A intron_variant MELA-AU 13 70314977 70314977 single base substitution G A intron_variant MELA-AU 13 70315096 70315096 single base substitution T G intron_variant MELA-AU 13 70315180 70315180 single base substitution G A intron_variant MELA-AU 13 70315223 70315223 single base substitution G A intron_variant MELA-AU 13 70315266 70315266 single base substitution C T intron_variant MELA-AU 13 70315449 70315449 single base substitution G A intron_variant MELA-AU 13 70315490 70315490 single base substitution A C intron_variant MELA-AU 13 70315546 70315546 single base substitution C T intron_variant MELA-AU 13 70315609 70315609 single base substitution C T intron_variant MELA-AU 13 70315755 70315756 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 70315810 70315810 single base substitution C T intron_variant MELA-AU 13 70315886 70315886 single base substitution C T intron_variant MELA-AU 13 70316079 70316079 single base substitution C T intron_variant MELA-AU 13 70316200 70316200 single base substitution C T intron_variant MELA-AU 13 70316288 70316288 single base substitution G A intron_variant MELA-AU 13 70316375 70316375 single base substitution G A intron_variant MELA-AU 13 70316547 70316547 single base substitution G A intron_variant MELA-AU 13 70316557 70316557 single base substitution C T intron_variant MELA-AU 13 70316706 70316706 single base substitution C T intron_variant MELA-AU 13 70316759 70316759 single base substitution A G intron_variant MELA-AU 13 70317327 70317327 single base substitution G A intron_variant MELA-AU 13 70317385 70317385 single base substitution T A intron_variant MELA-AU 13 70317450 70317450 single base substitution G A intron_variant MELA-AU 13 70317471 70317471 single base substitution C T intron_variant MELA-AU 13 70317709 70317709 single base substitution G A intron_variant MELA-AU 13 70317714 70317714 single base substitution C T intron_variant MELA-AU 13 70317905 70317905 single base substitution G A intron_variant MELA-AU 13 70318002 70318002 single base substitution T C intron_variant MELA-AU 13 70318034 70318034 single base substitution G A intron_variant MELA-AU 13 70318161 70318161 single base substitution C T intron_variant MELA-AU 13 70318202 70318202 single base substitution C T intron_variant MELA-AU 13 70318333 70318333 single base substitution A T intron_variant MELA-AU 13 70318412 70318412 single base substitution A T intron_variant MELA-AU 13 70318418 70318418 single base substitution C T intron_variant MELA-AU 13 70318430 70318430 single base substitution G A intron_variant MELA-AU 13 70318436 70318436 single base substitution C T intron_variant MELA-AU 13 70318598 70318598 single base substitution G C intron_variant MELA-AU 13 70318710 70318710 single base substitution G A intron_variant MELA-AU 13 70318780 70318780 single base substitution C T intron_variant MELA-AU 13 70319092 70319092 single base substitution C T intron_variant MELA-AU 13 70319497 70319497 single base substitution G A intron_variant MELA-AU 13 70319527 70319527 single base substitution T C intron_variant MELA-AU 13 70319536 70319536 single base substitution C T intron_variant MELA-AU 13 70319558 70319558 single base substitution G A intron_variant MELA-AU 13 70319726 70319726 single base substitution G A intron_variant MELA-AU 13 70319823 70319823 single base substitution A C intron_variant MELA-AU 13 70319949 70319949 single base substitution C T intron_variant MELA-AU 13 70319968 70319968 single base substitution T A intron_variant MELA-AU 13 70319985 70319985 single base substitution T A intron_variant MELA-AU 13 70320004 70320004 single base substitution G A intron_variant MELA-AU 13 70320016 70320016 single base substitution G A intron_variant MELA-AU 13 70320304 70320304 single base substitution G A intron_variant MELA-AU 13 70320352 70320352 single base substitution C T intron_variant MELA-AU 13 70320513 70320513 single base substitution C T intron_variant MELA-AU 13 70320604 70320604 single base substitution C T intron_variant MELA-AU 13 70320808 70320808 single base substitution C T intron_variant MELA-AU 13 70320811 70320811 single base substitution T A intron_variant MELA-AU 13 70321004 70321004 single base substitution G A intron_variant MELA-AU 13 70321391 70321391 single base substitution T G intron_variant MELA-AU 13 70321397 70321397 single base substitution T C intron_variant MELA-AU 13 70321504 70321504 single base substitution G A intron_variant MELA-AU 13 70321591 70321591 single base substitution G A intron_variant MELA-AU 13 70321710 70321710 single base substitution G A intron_variant MELA-AU 13 70321724 70321724 single base substitution G A intron_variant MELA-AU 13 70322360 70322360 single base substitution C A intron_variant MELA-AU 13 70322563 70322563 single base substitution G A intron_variant MELA-AU 13 70322707 70322707 single base substitution G A intron_variant MELA-AU 13 70322778 70322778 single base substitution C T intron_variant MELA-AU 13 70322840 70322840 single base substitution A T intron_variant MELA-AU 13 70322907 70322907 single base substitution G A intron_variant MELA-AU 13 70322994 70322994 single base substitution C T intron_variant MELA-AU 13 70323118 70323118 single base substitution C T intron_variant MELA-AU 13 70323254 70323254 single base substitution C T intron_variant MELA-AU 13 70323455 70323455 single base substitution A T intron_variant MELA-AU 13 70323483 70323483 single base substitution C T intron_variant MELA-AU 13 70323623 70323623 single base substitution C G intron_variant MELA-AU 13 70323709 70323709 single base substitution C T intron_variant MELA-AU 13 70323719 70323719 single base substitution C T intron_variant MELA-AU 13 70323753 70323753 single base substitution C T intron_variant MELA-AU 13 70323893 70323893 single base substitution A C intron_variant MELA-AU 13 70323904 70323904 single base substitution G A intron_variant MELA-AU 13 70323968 70323968 single base substitution T A intron_variant MELA-AU 13 70324034 70324034 single base substitution G A intron_variant MELA-AU 13 70324169 70324169 single base substitution C T intron_variant MELA-AU 13 70324376 70324376 single base substitution C T intron_variant MELA-AU 13 70324382 70324382 single base substitution C T intron_variant MELA-AU 13 70324687 70324687 single base substitution A T intron_variant MELA-AU 13 70324770 70324770 single base substitution G A intron_variant MELA-AU 13 70325065 70325065 single base substitution G A intron_variant MELA-AU 13 70325095 70325095 single base substitution C T intron_variant MELA-AU 13 70325153 70325153 single base substitution A G intron_variant MELA-AU 13 70325205 70325205 single base substitution C T intron_variant MELA-AU 13 70325387 70325387 single base substitution A G intron_variant MELA-AU 13 70325419 70325419 single base substitution C T intron_variant MELA-AU 13 70325494 70325494 single base substitution G A intron_variant MELA-AU 13 70325668 70325668 single base substitution G A intron_variant MELA-AU 13 70325673 70325673 single base substitution G A intron_variant MELA-AU 13 70325839 70325839 single base substitution G A intron_variant MELA-AU 13 70326009 70326009 single base substitution G A intron_variant MELA-AU 13 70326010 70326010 single base substitution G A intron_variant MELA-AU 13 70326028 70326028 single base substitution G A intron_variant MELA-AU 13 70326089 70326089 single base substitution C T intron_variant MELA-AU 13 70326233 70326233 single base substitution G A intron_variant MELA-AU 13 70326274 70326274 deletion of <=200bp A - intron_variant MELA-AU 13 70326325 70326325 single base substitution G A intron_variant MELA-AU 13 70326403 70326426 deletion of <=200bp TAAAGATTTAACTATTGCTAATGC - intron_variant MELA-AU 13 70326411 70326411 single base substitution T C intron_variant MELA-AU 13 70326798 70326798 single base substitution G A intron_variant MELA-AU 13 70326882 70326882 single base substitution T A intron_variant MELA-AU 13 70326945 70326945 single base substitution G A intron_variant MELA-AU 13 70327132 70327132 single base substitution C T intron_variant MELA-AU 13 70327137 70327137 single base substitution A G intron_variant MELA-AU 13 70327199 70327199 single base substitution G A intron_variant MELA-AU 13 70327328 70327328 single base substitution G A intron_variant MELA-AU 13 70327442 70327442 single base substitution G A intron_variant MELA-AU 13 70327481 70327481 single base substitution G A intron_variant MELA-AU 13 70327636 70327636 single base substitution G A intron_variant MELA-AU 13 70327668 70327668 single base substitution C T intron_variant MELA-AU 13 70327691 70327691 single base substitution C T intron_variant MELA-AU 13 70327903 70327903 single base substitution G A intron_variant MELA-AU 13 70328069 70328069 single base substitution G A intron_variant MELA-AU 13 70328119 70328119 single base substitution C T intron_variant MELA-AU 13 70328194 70328194 single base substitution G A intron_variant MELA-AU 13 70328403 70328403 single base substitution C T intron_variant MELA-AU 13 70328419 70328419 single base substitution C T intron_variant MELA-AU 13 70328439 70328440 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 70328531 70328531 single base substitution C T intron_variant MELA-AU 13 70328569 70328569 single base substitution C T intron_variant MELA-AU 13 70328676 70328676 single base substitution T A intron_variant MELA-AU 13 70328891 70328891 single base substitution T G intron_variant MELA-AU 13 70328972 70328972 single base substitution C T intron_variant MELA-AU 13 70329028 70329028 single base substitution C T intron_variant MELA-AU 13 70329045 70329045 single base substitution G A intron_variant MELA-AU 13 70329054 70329054 single base substitution C T intron_variant MELA-AU 13 70329133 70329133 single base substitution C T intron_variant MELA-AU 13 70329206 70329206 single base substitution C T intron_variant MELA-AU 13 70329229 70329229 single base substitution G T intron_variant MELA-AU 13 70329259 70329259 single base substitution C T intron_variant MELA-AU 13 70329266 70329266 single base substitution G A intron_variant MELA-AU 13 70329721 70329721 single base substitution G A intron_variant MELA-AU 13 70329798 70329798 single base substitution G A intron_variant MELA-AU 13 70329920 70329920 single base substitution G A intron_variant MELA-AU 13 70329932 70329932 single base substitution G A intron_variant MELA-AU 13 70330050 70330050 single base substitution G A intron_variant MELA-AU 13 70330228 70330228 single base substitution G A intron_variant MELA-AU 13 70330261 70330261 single base substitution C T intron_variant MELA-AU 13 70330273 70330273 single base substitution G A intron_variant MELA-AU 13 70330326 70330326 single base substitution C T intron_variant MELA-AU 13 70330401 70330401 single base substitution G A intron_variant MELA-AU 13 70330411 70330411 single base substitution G A intron_variant MELA-AU 13 70330413 70330413 single base substitution G A intron_variant MELA-AU 13 70330501 70330501 single base substitution G A intron_variant MELA-AU 13 70330512 70330512 single base substitution C T intron_variant MELA-AU 13 70330699 70330699 single base substitution A T intron_variant MELA-AU 13 70330723 70330723 single base substitution G A intron_variant MELA-AU 13 70330843 70330844 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 70330844 70330844 single base substitution C T intron_variant MELA-AU 13 70331004 70331004 single base substitution G A intron_variant MELA-AU 13 70331303 70331303 single base substitution C T intron_variant MELA-AU 13 70331519 70331519 single base substitution G A intron_variant MELA-AU 13 70331558 70331558 single base substitution C T intron_variant MELA-AU 13 70331626 70331626 single base substitution T G intron_variant MELA-AU 13 70331676 70331676 single base substitution C T intron_variant MELA-AU 13 70331732 70331732 single base substitution G A intron_variant MELA-AU 13 70331833 70331833 single base substitution C T intron_variant MELA-AU 13 70331916 70331916 single base substitution C T intron_variant MELA-AU 13 70331984 70331984 single base substitution G A intron_variant MELA-AU 13 70332077 70332077 single base substitution G A intron_variant MELA-AU 13 70332218 70332218 single base substitution C T intron_variant MELA-AU 13 70332254 70332254 single base substitution G A intron_variant MELA-AU 13 70332426 70332426 single base substitution C T intron_variant MELA-AU 13 70332482 70332482 single base substitution C T intron_variant MELA-AU 13 70332540 70332540 single base substitution C T intron_variant MELA-AU 13 70332567 70332567 single base substitution C T intron_variant MELA-AU 13 70332696 70332696 single base substitution C T intron_variant MELA-AU 13 70332750 70332750 single base substitution T A intron_variant MELA-AU 13 70332775 70332775 single base substitution C A intron_variant MELA-AU 13 70332775 70332775 single base substitution C T intron_variant MELA-AU 13 70332790 70332790 single base substitution G A intron_variant MELA-AU 13 70332850 70332850 single base substitution T C intron_variant MELA-AU 13 70333075 70333075 single base substitution G A intron_variant MELA-AU 13 70333102 70333102 single base substitution C T intron_variant MELA-AU 13 70333151 70333151 single base substitution G A intron_variant MELA-AU 13 70333213 70333213 single base substitution G A intron_variant MELA-AU 13 70333223 70333223 single base substitution C T intron_variant MELA-AU 13 70333473 70333473 single base substitution A T intron_variant MELA-AU 13 70333580 70333580 single base substitution G A intron_variant MELA-AU 13 70333596 70333596 single base substitution T A intron_variant MELA-AU 13 70333841 70333841 single base substitution C T intron_variant MELA-AU 13 70333934 70333934 single base substitution C T intron_variant MELA-AU 13 70334145 70334145 single base substitution G A intron_variant MELA-AU 13 70334324 70334324 single base substitution G T intron_variant MELA-AU 13 70334376 70334376 single base substitution G A intron_variant MELA-AU 13 70334422 70334422 single base substitution C T intron_variant MELA-AU 13 70334474 70334474 single base substitution G A intron_variant MELA-AU 13 70334517 70334517 single base substitution C T intron_variant MELA-AU 13 70334610 70334610 single base substitution C T intron_variant MELA-AU 13 70334707 70334707 single base substitution G A intron_variant MELA-AU 13 70334812 70334812 single base substitution T C intron_variant MELA-AU 13 70334846 70334846 single base substitution G A intron_variant MELA-AU 13 70334875 70334875 single base substitution G A intron_variant MELA-AU 13 70334907 70334907 single base substitution A G intron_variant MELA-AU 13 70335173 70335173 single base substitution C T intron_variant MELA-AU 13 70335373 70335373 single base substitution G A intron_variant MELA-AU 13 70335430 70335430 single base substitution G A intron_variant MELA-AU 13 70335564 70335565 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 70335565 70335565 single base substitution G A intron_variant MELA-AU 13 70335725 70335725 single base substitution C T intron_variant MELA-AU 13 70335779 70335779 single base substitution C T intron_variant MELA-AU 13 70336065 70336065 single base substitution T A intron_variant MELA-AU 13 70336115 70336115 single base substitution A G intron_variant MELA-AU 13 70336126 70336126 single base substitution C T intron_variant MELA-AU 13 70336164 70336164 single base substitution T A intron_variant MELA-AU 13 70336379 70336379 single base substitution C A intron_variant MELA-AU 13 70336403 70336403 single base substitution T A intron_variant MELA-AU 13 70336420 70336420 single base substitution T C intron_variant MELA-AU 13 70336619 70336619 single base substitution G A intron_variant MELA-AU 13 70336635 70336635 single base substitution C T intron_variant MELA-AU 13 70336671 70336671 single base substitution G A intron_variant MELA-AU 13 70336795 70336795 single base substitution G A intron_variant MELA-AU 13 70336882 70336882 single base substitution C T intron_variant MELA-AU 13 70336928 70336928 single base substitution A G intron_variant MELA-AU 13 70336931 70336931 single base substitution G A intron_variant MELA-AU 13 70336973 70336973 single base substitution G A intron_variant MELA-AU 13 70336983 70336983 single base substitution C T intron_variant MELA-AU 13 70337123 70337123 single base substitution C T intron_variant MELA-AU 13 70337133 70337133 single base substitution A G intron_variant MELA-AU 13 70337195 70337195 single base substitution C T intron_variant MELA-AU 13 70337225 70337225 single base substitution G A intron_variant MELA-AU 13 70337230 70337230 single base substitution G T intron_variant MELA-AU 13 70337234 70337234 single base substitution C T intron_variant MELA-AU 13 70337249 70337249 single base substitution C T intron_variant MELA-AU 13 70337296 70337296 single base substitution T A intron_variant MELA-AU 13 70337392 70337392 single base substitution T A intron_variant MELA-AU 13 70337402 70337402 single base substitution G A intron_variant MELA-AU 13 70337458 70337458 single base substitution C T intron_variant MELA-AU 13 70337477 70337477 single base substitution T G intron_variant MELA-AU 13 70337524 70337524 single base substitution G A intron_variant MELA-AU 13 70337543 70337543 single base substitution C T intron_variant MELA-AU 13 70337554 70337554 single base substitution T A intron_variant MELA-AU 13 70337670 70337670 single base substitution A T intron_variant MELA-AU 13 70337688 70337688 single base substitution G A intron_variant MELA-AU 13 70337691 70337691 single base substitution C T intron_variant MELA-AU 13 70337714 70337714 single base substitution A T intron_variant MELA-AU 13 70337879 70337879 single base substitution C T intron_variant MELA-AU 13 70337880 70337880 single base substitution C T intron_variant MELA-AU 13 70338021 70338021 single base substitution C T intron_variant MELA-AU 13 70338087 70338087 single base substitution C T intron_variant MELA-AU 13 70338095 70338095 single base substitution C T intron_variant MELA-AU 13 70338150 70338150 single base substitution C T intron_variant MELA-AU 13 70338230 70338230 single base substitution G A intron_variant MELA-AU 13 70338235 70338235 single base substitution C T intron_variant MELA-AU 13 70338251 70338251 single base substitution G A intron_variant MELA-AU 13 70338323 70338323 single base substitution C T intron_variant MELA-AU 13 70338348 70338348 single base substitution G A intron_variant MELA-AU 13 70338362 70338362 single base substitution A G intron_variant MELA-AU 13 70338465 70338465 single base substitution T A intron_variant MELA-AU 13 70338467 70338467 single base substitution C T intron_variant MELA-AU 13 70338523 70338523 single base substitution C T intron_variant MELA-AU 13 70338572 70338572 single base substitution A G intron_variant MELA-AU 13 70338653 70338653 single base substitution C T intron_variant MELA-AU 13 70338741 70338741 single base substitution G A intron_variant MELA-AU 13 70338806 70338806 single base substitution C T intron_variant MELA-AU 13 70338894 70338894 single base substitution T C intron_variant MELA-AU 13 70338955 70338955 single base substitution G A intron_variant MELA-AU 13 70338963 70338963 single base substitution A C intron_variant MELA-AU 13 70339031 70339031 single base substitution C T intron_variant MELA-AU 13 70339182 70339182 single base substitution C T intron_variant MELA-AU 13 70339263 70339263 single base substitution G A intron_variant MELA-AU 13 70339454 70339454 single base substitution G A intron_variant MELA-AU 13 70339538 70339538 single base substitution C T intron_variant MELA-AU 13 70339651 70339651 single base substitution G A intron_variant MELA-AU 13 70339657 70339657 single base substitution C T intron_variant MELA-AU 13 70339748 70339748 single base substitution T C intron_variant MELA-AU 13 70339758 70339758 single base substitution G A intron_variant MELA-AU 13 70339787 70339787 single base substitution C T intron_variant MELA-AU 13 70339922 70339922 single base substitution G A intron_variant MELA-AU 13 70339944 70339944 single base substitution G A intron_variant MELA-AU 13 70339947 70339947 single base substitution G A intron_variant MELA-AU 13 70339995 70339995 single base substitution T G intron_variant MELA-AU 13 70340018 70340018 single base substitution C T intron_variant MELA-AU 13 70340035 70340035 single base substitution G A intron_variant MELA-AU 13 70340100 70340100 single base substitution G A intron_variant MELA-AU 13 70340211 70340211 single base substitution C T intron_variant MELA-AU 13 70340311 70340311 single base substitution G T intron_variant MELA-AU 13 70340347 70340347 single base substitution C T intron_variant MELA-AU 13 70340354 70340354 single base substitution G A intron_variant MELA-AU 13 70340429 70340429 single base substitution C T intron_variant MELA-AU 13 70340568 70340568 single base substitution C T intron_variant MELA-AU 13 70340685 70340685 single base substitution C T intron_variant MELA-AU 13 70340707 70340707 single base substitution G A intron_variant MELA-AU 13 70340713 70340713 single base substitution G A intron_variant MELA-AU 13 70340749 70340749 single base substitution C T intron_variant MELA-AU 13 70340767 70340767 single base substitution G A intron_variant MELA-AU 13 70340785 70340785 single base substitution C T intron_variant MELA-AU 13 70340836 70340836 single base substitution C T intron_variant MELA-AU 13 70340939 70340939 single base substitution G A intron_variant MELA-AU 13 70340959 70340959 single base substitution G A intron_variant MELA-AU 13 70341206 70341206 single base substitution G A intron_variant MELA-AU 13 70341274 70341274 single base substitution T C intron_variant MELA-AU 13 70341353 70341353 single base substitution A G intron_variant MELA-AU 13 70341386 70341386 single base substitution C T intron_variant MELA-AU 13 70341439 70341439 single base substitution G A intron_variant MELA-AU 13 70341587 70341587 single base substitution C T intron_variant MELA-AU 13 70341608 70341608 single base substitution G A intron_variant MELA-AU 13 70341620 70341620 single base substitution G A intron_variant MELA-AU 13 70341652 70341652 single base substitution G A intron_variant MELA-AU 13 70341696 70341696 single base substitution C T intron_variant MELA-AU 13 70341728 70341728 single base substitution C T intron_variant MELA-AU 13 70341838 70341838 single base substitution C T intron_variant MELA-AU 13 70341886 70341886 single base substitution G A intron_variant MELA-AU 13 70341923 70341923 single base substitution G A intron_variant MELA-AU 13 70342130 70342130 single base substitution T A intron_variant MELA-AU 13 70342132 70342132 single base substitution T G intron_variant MELA-AU 13 70342166 70342166 single base substitution C T intron_variant MELA-AU 13 70342196 70342196 single base substitution G A intron_variant MELA-AU 13 70342557 70342557 single base substitution G A intron_variant MELA-AU 13 70342563 70342563 single base substitution A T intron_variant MELA-AU 13 70342569 70342569 single base substitution G A intron_variant MELA-AU 13 70342817 70342817 single base substitution G A intron_variant MELA-AU 13 70342930 70342930 single base substitution C T intron_variant MELA-AU 13 70343035 70343035 single base substitution C T intron_variant MELA-AU 13 70343043 70343043 single base substitution G A intron_variant MELA-AU 13 70343119 70343119 single base substitution G A intron_variant MELA-AU 13 70343190 70343190 single base substitution T C intron_variant MELA-AU 13 70343313 70343313 single base substitution G A intron_variant MELA-AU 13 70343527 70343527 single base substitution G A intron_variant MELA-AU 13 70343551 70343551 single base substitution G A intron_variant MELA-AU 13 70343565 70343565 single base substitution C T intron_variant MELA-AU 13 70343741 70343741 single base substitution G A intron_variant MELA-AU 13 70343838 70343839 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 70343842 70343842 single base substitution C T intron_variant MELA-AU 13 70343880 70343880 single base substitution C T intron_variant MELA-AU 13 70343949 70343949 single base substitution C T intron_variant MELA-AU 13 70343956 70343956 single base substitution C T intron_variant MELA-AU 13 70344011 70344011 single base substitution G A intron_variant MELA-AU 13 70344017 70344017 single base substitution G A intron_variant MELA-AU 13 70344079 70344079 single base substitution G A intron_variant MELA-AU 13 70344086 70344086 single base substitution G A intron_variant MELA-AU 13 70344230 70344230 single base substitution C T intron_variant MELA-AU 13 70344307 70344307 single base substitution C T intron_variant MELA-AU 13 70344309 70344309 single base substitution C T intron_variant MELA-AU 13 70344358 70344358 single base substitution G A intron_variant MELA-AU 13 70344389 70344390 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 70344392 70344392 single base substitution G A intron_variant MELA-AU 13 70344502 70344502 single base substitution G A intron_variant MELA-AU 13 70344521 70344521 single base substitution A T intron_variant MELA-AU 13 70344799 70344799 single base substitution G A intron_variant MELA-AU 13 70344934 70344934 single base substitution G A intron_variant MELA-AU 13 70344944 70344944 single base substitution G A intron_variant MELA-AU 13 70344971 70344971 single base substitution C T intron_variant MELA-AU 13 70345082 70345082 single base substitution T A intron_variant MELA-AU 13 70345119 70345119 single base substitution G A intron_variant MELA-AU 13 70345148 70345148 single base substitution G A intron_variant MELA-AU 13 70345252 70345252 single base substitution G A intron_variant MELA-AU 13 70345384 70345384 single base substitution A G intron_variant MELA-AU 13 70345414 70345414 single base substitution A G intron_variant MELA-AU 13 70345471 70345471 single base substitution C T intron_variant MELA-AU 13 70345614 70345614 single base substitution C T intron_variant MELA-AU 13 70345629 70345629 single base substitution C T intron_variant MELA-AU 13 70345647 70345647 single base substitution C T intron_variant MELA-AU 13 70345786 70345786 single base substitution C T intron_variant MELA-AU 13 70345846 70345846 single base substitution G A intron_variant MELA-AU 13 70345918 70345918 single base substitution G A intron_variant MELA-AU 13 70345967 70345967 single base substitution G A intron_variant MELA-AU 13 70346094 70346094 single base substitution T G intron_variant MELA-AU 13 70346133 70346133 single base substitution G A intron_variant MELA-AU 13 70346280 70346280 single base substitution C T intron_variant MELA-AU 13 70346362 70346362 single base substitution C T intron_variant MELA-AU 13 70346376 70346376 single base substitution A T intron_variant MELA-AU 13 70346414 70346414 single base substitution A G intron_variant MELA-AU 13 70346422 70346422 single base substitution C T intron_variant MELA-AU 13 70346511 70346511 single base substitution G A intron_variant MELA-AU 13 70346615 70346615 single base substitution C T intron_variant MELA-AU 13 70346778 70346778 single base substitution G C intron_variant MELA-AU 13 70346792 70346792 single base substitution G A intron_variant MELA-AU 13 70346801 70346801 single base substitution C T intron_variant MELA-AU 13 70346899 70346899 single base substitution G A intron_variant MELA-AU 13 70347066 70347066 single base substitution C T intron_variant MELA-AU 13 70347078 70347078 single base substitution C T intron_variant MELA-AU 13 70347087 70347087 single base substitution G A intron_variant MELA-AU 13 70347132 70347132 single base substitution C T intron_variant MELA-AU 13 70347322 70347322 single base substitution G A intron_variant MELA-AU 13 70347367 70347367 single base substitution T A intron_variant MELA-AU 13 70347470 70347470 single base substitution A T intron_variant MELA-AU 13 70347731 70347731 single base substitution C T intron_variant MELA-AU 13 70347792 70347792 single base substitution G A intron_variant MELA-AU 13 70347824 70347824 single base substitution G A intron_variant MELA-AU 13 70347864 70347864 single base substitution C T intron_variant MELA-AU 13 70348044 70348044 single base substitution C T intron_variant MELA-AU 13 70348213 70348213 single base substitution G A intron_variant MELA-AU 13 70348239 70348239 single base substitution G A intron_variant MELA-AU 13 70348384 70348384 single base substitution G A intron_variant MELA-AU 13 70348548 70348548 single base substitution G A intron_variant MELA-AU 13 70348595 70348595 single base substitution G A intron_variant MELA-AU 13 70348636 70348636 single base substitution G A intron_variant MELA-AU 13 70348661 70348661 single base substitution C T intron_variant MELA-AU 13 70348742 70348742 single base substitution G A intron_variant MELA-AU 13 70348760 70348760 single base substitution T C intron_variant MELA-AU 13 70349070 70349070 single base substitution C T intron_variant MELA-AU 13 70349114 70349114 single base substitution G A intron_variant MELA-AU 13 70349187 70349187 single base substitution G A intron_variant MELA-AU 13 70349216 70349216 single base substitution C T intron_variant MELA-AU 13 70349362 70349362 single base substitution C T intron_variant MELA-AU 13 70349773 70349773 single base substitution G A intron_variant MELA-AU 13 70349783 70349783 single base substitution T G intron_variant MELA-AU 13 70349932 70349932 single base substitution C T intron_variant MELA-AU 13 70350113 70350113 single base substitution T A intron_variant MELA-AU 13 70350133 70350133 insertion of <=200bp - T intron_variant MELA-AU 13 70350134 70350134 single base substitution A G intron_variant MELA-AU 13 70350171 70350171 single base substitution C G intron_variant MELA-AU 13 70350207 70350207 single base substitution G A intron_variant MELA-AU 13 70350215 70350215 single base substitution G A intron_variant MELA-AU 13 70350277 70350277 single base substitution G A intron_variant MELA-AU 13 70350294 70350294 single base substitution A T intron_variant MELA-AU 13 70350586 70350586 single base substitution C A intron_variant MELA-AU 13 70350586 70350586 single base substitution C T intron_variant MELA-AU 13 70350785 70350785 single base substitution A C intron_variant MELA-AU 13 70350826 70350826 single base substitution G A intron_variant MELA-AU 13 70350849 70350849 single base substitution C T intron_variant MELA-AU 13 70350852 70350852 single base substitution C T intron_variant MELA-AU 13 70350914 70350914 single base substitution A G intron_variant MELA-AU 13 70351008 70351008 single base substitution C T intron_variant MELA-AU 13 70351016 70351016 single base substitution C T intron_variant MELA-AU 13 70351100 70351100 single base substitution C T intron_variant MELA-AU 13 70351162 70351162 single base substitution G A intron_variant MELA-AU 13 70351233 70351233 single base substitution G A intron_variant MELA-AU 13 70351406 70351406 single base substitution G A intron_variant MELA-AU 13 70351456 70351456 single base substitution G A intron_variant MELA-AU 13 70351523 70351523 single base substitution G A intron_variant MELA-AU 13 70351628 70351628 single base substitution C T intron_variant MELA-AU 13 70351664 70351664 single base substitution C T intron_variant MELA-AU 13 70351780 70351780 single base substitution C T intron_variant MELA-AU 13 70351854 70351854 single base substitution A G intron_variant MELA-AU 13 70351881 70351881 single base substitution G A intron_variant MELA-AU 13 70351893 70351893 single base substitution C T intron_variant MELA-AU 13 70351944 70351944 single base substitution A C intron_variant MELA-AU 13 70352047 70352047 single base substitution A G intron_variant MELA-AU 13 70352200 70352200 single base substitution C T intron_variant MELA-AU 13 70352345 70352345 single base substitution G A intron_variant MELA-AU 13 70352354 70352354 single base substitution G A intron_variant MELA-AU 13 70352442 70352442 single base substitution G A intron_variant MELA-AU 13 70352539 70352539 single base substitution C T intron_variant MELA-AU 13 70352554 70352554 single base substitution G A intron_variant MELA-AU 13 70352699 70352699 single base substitution G A intron_variant MELA-AU 13 70353025 70353025 single base substitution G A intron_variant MELA-AU 13 70353029 70353029 single base substitution C T intron_variant MELA-AU 13 70353157 70353157 single base substitution C T intron_variant MELA-AU 13 70353291 70353291 single base substitution C T intron_variant MELA-AU 13 70353359 70353359 single base substitution G A intron_variant MELA-AU 13 70353476 70353476 single base substitution C T intron_variant MELA-AU 13 70353490 70353490 single base substitution C T intron_variant MELA-AU 13 70353495 70353495 single base substitution C T intron_variant MELA-AU 13 70353503 70353503 single base substitution C T intron_variant MELA-AU 13 70353535 70353535 single base substitution C T intron_variant MELA-AU 13 70353544 70353544 single base substitution C T intron_variant MELA-AU 13 70353629 70353629 single base substitution C T intron_variant MELA-AU 13 70353633 70353633 single base substitution C T intron_variant MELA-AU 13 70353639 70353639 single base substitution C T intron_variant MELA-AU 13 70353645 70353645 single base substitution C T intron_variant MELA-AU 13 70353646 70353646 single base substitution C T intron_variant MELA-AU 13 70353682 70353682 single base substitution C T intron_variant MELA-AU 13 70353715 70353715 single base substitution G A intron_variant MELA-AU 13 70353796 70353796 single base substitution C T intron_variant MELA-AU 13 70353875 70353875 single base substitution G A intron_variant MELA-AU 13 70353969 70353969 single base substitution G A intron_variant MELA-AU 13 70354006 70354006 single base substitution G A intron_variant MELA-AU 13 70354107 70354107 single base substitution C T intron_variant MELA-AU 13 70354185 70354185 single base substitution C T intron_variant MELA-AU 13 70354198 70354198 single base substitution C T intron_variant MELA-AU 13 70354210 70354210 single base substitution G A intron_variant MELA-AU 13 70354256 70354256 single base substitution C T intron_variant MELA-AU 13 70354269 70354269 single base substitution A G intron_variant MELA-AU 13 70354465 70354465 single base substitution C T intron_variant MELA-AU 13 70354499 70354499 single base substitution C T intron_variant MELA-AU 13 70354582 70354582 single base substitution G A intron_variant MELA-AU 13 70354648 70354648 single base substitution G A intron_variant MELA-AU 13 70354712 70354712 single base substitution C T intron_variant MELA-AU 13 70354737 70354737 single base substitution C T intron_variant MELA-AU 13 70354968 70354968 single base substitution C T intron_variant MELA-AU 13 70354988 70354988 single base substitution C T intron_variant MELA-AU 13 70354990 70354990 single base substitution C T intron_variant MELA-AU 13 70355025 70355025 single base substitution C T intron_variant MELA-AU 13 70355074 70355074 single base substitution C T intron_variant MELA-AU 13 70355222 70355222 single base substitution G A intron_variant MELA-AU 13 70355246 70355246 single base substitution A C intron_variant MELA-AU 13 70355355 70355355 single base substitution G A intron_variant MELA-AU 13 70355369 70355369 single base substitution G A intron_variant MELA-AU 13 70355373 70355373 single base substitution C T intron_variant MELA-AU 13 70355499 70355499 single base substitution A G intron_variant MELA-AU 13 70355591 70355591 single base substitution A T intron_variant MELA-AU 13 70355592 70355592 single base substitution A G intron_variant MELA-AU 13 70355654 70355654 single base substitution C T intron_variant MELA-AU 13 70355690 70355690 single base substitution C T intron_variant MELA-AU 13 70355781 70355781 single base substitution C T intron_variant MELA-AU 13 70355785 70355785 single base substitution T C intron_variant MELA-AU 13 70355882 70355882 single base substitution G A intron_variant MELA-AU 13 70356032 70356032 single base substitution C T intron_variant MELA-AU 13 70356133 70356133 single base substitution T C intron_variant MELA-AU 13 70356159 70356159 single base substitution C T intron_variant MELA-AU 13 70356207 70356207 single base substitution G A intron_variant MELA-AU 13 70356313 70356313 single base substitution G A intron_variant MELA-AU 13 70356314 70356314 single base substitution G A intron_variant MELA-AU 13 70356322 70356322 single base substitution G A intron_variant MELA-AU 13 70356335 70356335 single base substitution G A intron_variant MELA-AU 13 70356397 70356397 single base substitution C T intron_variant MELA-AU 13 70356412 70356412 single base substitution G A intron_variant MELA-AU 13 70356521 70356521 single base substitution G A intron_variant MELA-AU 13 70356573 70356573 single base substitution G A intron_variant MELA-AU 13 70356608 70356608 single base substitution T A intron_variant MELA-AU 13 70356638 70356638 single base substitution G A intron_variant MELA-AU 13 70356640 70356640 single base substitution G A intron_variant MELA-AU 13 70356648 70356648 single base substitution C T intron_variant MELA-AU 13 70356669 70356669 single base substitution C T intron_variant MELA-AU 13 70356725 70356725 single base substitution A G intron_variant MELA-AU 13 70356808 70356808 single base substitution G A intron_variant MELA-AU 13 70356986 70356986 single base substitution G A intron_variant MELA-AU 13 70357006 70357006 single base substitution C T intron_variant MELA-AU 13 70357015 70357015 single base substitution C T intron_variant MELA-AU 13 70357098 70357098 single base substitution C T intron_variant MELA-AU 13 70357212 70357212 single base substitution C T intron_variant MELA-AU 13 70357262 70357262 single base substitution G A intron_variant MELA-AU 13 70357263 70357263 single base substitution A T intron_variant MELA-AU 13 70357300 70357300 single base substitution C T intron_variant MELA-AU 13 70357301 70357301 single base substitution C T intron_variant MELA-AU 13 70357310 70357310 single base substitution A T intron_variant MELA-AU 13 70357325 70357325 single base substitution G A intron_variant MELA-AU 13 70357356 70357356 single base substitution G A intron_variant MELA-AU 13 70357426 70357426 single base substitution C T intron_variant MELA-AU 13 70357428 70357428 single base substitution T C intron_variant MELA-AU 13 70357450 70357450 single base substitution G A intron_variant MELA-AU 13 70357451 70357451 single base substitution G A intron_variant MELA-AU 13 70357495 70357495 single base substitution G A intron_variant MELA-AU 13 70357520 70357520 single base substitution G A intron_variant MELA-AU 13 70357577 70357577 single base substitution G A intron_variant MELA-AU 13 70357607 70357607 single base substitution C T intron_variant MELA-AU 13 70357608 70357608 single base substitution C T intron_variant MELA-AU 13 70357617 70357617 single base substitution G A intron_variant MELA-AU 13 70357720 70357720 single base substitution G A intron_variant MELA-AU 13 70357734 70357734 single base substitution G A intron_variant MELA-AU 13 70357746 70357746 single base substitution G A intron_variant MELA-AU 13 70357801 70357801 single base substitution G A intron_variant MELA-AU 13 70357834 70357834 single base substitution G A intron_variant MELA-AU 13 70358313 70358313 single base substitution G A intron_variant MELA-AU 13 70358379 70358380 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 13 70358421 70358421 single base substitution T C intron_variant MELA-AU 13 70359294 70359294 single base substitution G A intron_variant MELA-AU 13 70359338 70359338 single base substitution T A intron_variant MELA-AU 13 70359352 70359352 single base substitution C T intron_variant MELA-AU 13 70359551 70359551 single base substitution G A intron_variant MELA-AU 13 70359551 70359551 single base substitution G T intron_variant MELA-AU 13 70359581 70359581 single base substitution G A intron_variant MELA-AU 13 70359599 70359599 single base substitution G A intron_variant MELA-AU 13 70359653 70359653 single base substitution G A intron_variant MELA-AU 13 70359690 70359690 single base substitution G A intron_variant MELA-AU 13 70359718 70359718 single base substitution C T intron_variant MELA-AU 13 70359793 70359793 single base substitution G A intron_variant MELA-AU 13 70359804 70359804 single base substitution G A intron_variant MELA-AU 13 70359805 70359805 single base substitution G A intron_variant MELA-AU 13 70359849 70359849 single base substitution G A intron_variant MELA-AU 13 70359866 70359866 single base substitution G A intron_variant MELA-AU 13 70359959 70359959 single base substitution C T intron_variant MELA-AU 13 70359969 70359969 single base substitution C T intron_variant MELA-AU 13 70360033 70360033 single base substitution A T intron_variant MELA-AU 13 70360040 70360040 single base substitution A T intron_variant MELA-AU 13 70360089 70360089 single base substitution G A intron_variant MELA-AU 13 70360265 70360265 single base substitution G A intron_variant MELA-AU 13 70360301 70360301 single base substitution C T intron_variant MELA-AU 13 70360305 70360305 single base substitution C T intron_variant MELA-AU 13 70360343 70360343 single base substitution G A intron_variant MELA-AU 13 70360360 70360360 single base substitution C T intron_variant MELA-AU 13 70360413 70360413 single base substitution C A intron_variant MELA-AU 13 70360456 70360456 single base substitution C T intron_variant MELA-AU 13 70360459 70360459 single base substitution C T intron_variant MELA-AU 13 70360567 70360567 single base substitution G A intron_variant MELA-AU 13 70360687 70360687 single base substitution G A intron_variant MELA-AU 13 70360703 70360703 single base substitution G A intron_variant MELA-AU 13 70360775 70360775 single base substitution G A intron_variant MELA-AU 13 70360807 70360807 single base substitution G A intron_variant MELA-AU 13 70361028 70361028 single base substitution C T intron_variant MELA-AU 13 70361452 70361452 single base substitution C T intron_variant MELA-AU 13 70361581 70361581 single base substitution C T intron_variant MELA-AU 13 70361587 70361587 single base substitution A C intron_variant MELA-AU 13 70361615 70361615 single base substitution T A intron_variant MELA-AU 13 70361984 70361984 single base substitution G A intron_variant MELA-AU 13 70362423 70362423 single base substitution G A intron_variant MELA-AU 13 70362504 70362504 single base substitution G A intron_variant MELA-AU 13 70362582 70362582 single base substitution G A intron_variant MELA-AU 13 70362654 70362654 single base substitution G A intron_variant MELA-AU 13 70362659 70362659 single base substitution G A intron_variant MELA-AU 13 70362802 70362802 single base substitution T A intron_variant MELA-AU 13 70362803 70362803 insertion of <=200bp - AAAA intron_variant MELA-AU 13 70362806 70362806 single base substitution A C intron_variant MELA-AU 13 70363038 70363038 single base substitution G A intron_variant MELA-AU 13 70363118 70363118 single base substitution G A intron_variant MELA-AU 13 70363126 70363126 single base substitution G A intron_variant MELA-AU 13 70363285 70363285 single base substitution T G intron_variant MELA-AU 13 70363488 70363488 single base substitution A T intron_variant MELA-AU 13 70363533 70363533 single base substitution G A intron_variant MELA-AU 13 70363606 70363606 single base substitution G A intron_variant MELA-AU 13 70363608 70363608 single base substitution G A intron_variant MELA-AU 13 70363631 70363631 single base substitution C T intron_variant MELA-AU 13 70363714 70363714 single base substitution T A intron_variant MELA-AU 13 70363782 70363782 single base substitution C T intron_variant MELA-AU 13 70363812 70363812 single base substitution C T intron_variant MELA-AU 13 70364021 70364021 single base substitution G A intron_variant MELA-AU 13 70364025 70364025 single base substitution G A intron_variant MELA-AU 13 70364093 70364093 single base substitution C T intron_variant MELA-AU 13 70364262 70364262 single base substitution C T intron_variant MELA-AU 13 70364355 70364355 single base substitution A T intron_variant MELA-AU 13 70364423 70364423 single base substitution G A intron_variant MELA-AU 13 70364539 70364539 single base substitution C T intron_variant MELA-AU 13 70364566 70364566 single base substitution C T intron_variant MELA-AU 13 70364621 70364621 single base substitution G A intron_variant MELA-AU 13 70364632 70364632 single base substitution C T intron_variant MELA-AU 13 70364663 70364663 single base substitution G A intron_variant MELA-AU 13 70364694 70364694 single base substitution A G intron_variant MELA-AU 13 70364719 70364719 single base substitution G A intron_variant MELA-AU 13 70364759 70364759 single base substitution A G intron_variant MELA-AU 13 70364813 70364813 single base substitution G A intron_variant MELA-AU 13 70364842 70364842 single base substitution C T intron_variant MELA-AU 13 70364854 70364854 single base substitution G A intron_variant MELA-AU 13 70364876 70364876 single base substitution G A intron_variant MELA-AU 13 70364987 70364987 single base substitution G A intron_variant MELA-AU 13 70364994 70364994 single base substitution C T intron_variant MELA-AU 13 70365008 70365008 single base substitution C T intron_variant MELA-AU 13 70365058 70365058 single base substitution G A intron_variant MELA-AU 13 70365177 70365177 single base substitution G A intron_variant MELA-AU 13 70365205 70365205 single base substitution G A intron_variant MELA-AU 13 70365317 70365317 single base substitution A G intron_variant MELA-AU 13 70365326 70365326 single base substitution C T intron_variant MELA-AU 13 70365339 70365339 single base substitution G A intron_variant MELA-AU 13 70365387 70365387 single base substitution A G intron_variant MELA-AU 13 70365468 70365468 single base substitution T A intron_variant MELA-AU 13 70365554 70365554 single base substitution G A intron_variant MELA-AU 13 70365562 70365562 single base substitution G A intron_variant MELA-AU 13 70365600 70365600 single base substitution G A intron_variant MELA-AU 13 70365606 70365606 single base substitution C T intron_variant MELA-AU 13 70365760 70365760 single base substitution C T intron_variant MELA-AU 13 70365773 70365773 single base substitution G A intron_variant MELA-AU 13 70365883 70365883 single base substitution G A intron_variant MELA-AU 13 70366001 70366001 single base substitution G A intron_variant MELA-AU 13 70366155 70366155 single base substitution C T intron_variant MELA-AU 13 70366274 70366274 single base substitution G T intron_variant MELA-AU 13 70366298 70366298 single base substitution C T intron_variant MELA-AU 13 70366364 70366364 single base substitution G A intron_variant MELA-AU 13 70366374 70366374 single base substitution C T intron_variant MELA-AU 13 70366400 70366400 single base substitution C T intron_variant MELA-AU 13 70366514 70366514 single base substitution G A intron_variant MELA-AU 13 70366540 70366541 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 13 70366611 70366611 single base substitution G A intron_variant MELA-AU 13 70366820 70366820 single base substitution G A intron_variant MELA-AU 13 70366846 70366846 single base substitution G A intron_variant MELA-AU 13 70366946 70366946 single base substitution G A intron_variant MELA-AU 13 70367065 70367065 single base substitution A T intron_variant MELA-AU 13 70367157 70367157 single base substitution G A intron_variant MELA-AU 13 70367164 70367164 single base substitution G A intron_variant MELA-AU 13 70367363 70367363 single base substitution G A intron_variant MELA-AU 13 70367397 70367397 single base substitution G A intron_variant MELA-AU 13 70367538 70367538 single base substitution G A intron_variant MELA-AU 13 70367552 70367552 single base substitution C T intron_variant MELA-AU 13 70367630 70367630 single base substitution G T intron_variant MELA-AU 13 70367655 70367655 single base substitution G A intron_variant MELA-AU 13 70368161 70368161 single base substitution C T intron_variant MELA-AU 13 70368176 70368176 single base substitution G A intron_variant MELA-AU 13 70368289 70368289 single base substitution G A intron_variant MELA-AU 13 70368366 70368366 single base substitution G A intron_variant MELA-AU 13 70368634 70368634 single base substitution G A intron_variant MELA-AU 13 70368684 70368684 single base substitution G A intron_variant MELA-AU 13 70368729 70368729 single base substitution G A intron_variant MELA-AU 13 70368771 70368771 single base substitution G A intron_variant MELA-AU 13 70368839 70368839 single base substitution G A intron_variant MELA-AU 13 70368994 70368994 single base substitution G A intron_variant MELA-AU 13 70369028 70369028 single base substitution A T intron_variant MELA-AU 13 70369182 70369182 single base substitution C T intron_variant MELA-AU 13 70369199 70369199 single base substitution C T intron_variant MELA-AU 13 70369272 70369272 single base substitution C T intron_variant MELA-AU 13 70369366 70369366 single base substitution C T intron_variant MELA-AU 13 70369585 70369585 single base substitution G A intron_variant MELA-AU 13 70369711 70369711 single base substitution T C intron_variant MELA-AU 13 70369747 70369747 single base substitution G A intron_variant MELA-AU 13 70369949 70369949 single base substitution A G intron_variant MELA-AU 13 70370031 70370031 single base substitution C T intron_variant MELA-AU 13 70370182 70370182 single base substitution C T intron_variant MELA-AU 13 70370214 70370214 single base substitution G A intron_variant MELA-AU 13 70370251 70370251 single base substitution C T intron_variant MELA-AU 13 70370409 70370409 single base substitution G A intron_variant MELA-AU 13 70370414 70370414 single base substitution C T intron_variant MELA-AU 13 70370439 70370439 single base substitution C T intron_variant MELA-AU 13 70370663 70370663 single base substitution G A intron_variant MELA-AU 13 70370758 70370758 single base substitution C T intron_variant MELA-AU 13 70370865 70370865 single base substitution C T splice_region_variant MELA-AU 13 70370874 70370874 single base substitution A T synonymous_variant G352G 1056T>A MELA-AU 13 70370874 70370874 single base substitution A T synonymous_variant G545G 1635T>A MELA-AU 13 70371210 70371210 insertion of <=200bp - AAG intron_variant MELA-AU 13 70371212 70371212 single base substitution G A intron_variant MELA-AU 13 70371403 70371403 single base substitution C T intron_variant MELA-AU 13 70371449 70371449 single base substitution G A intron_variant MELA-AU 13 70371471 70371471 single base substitution T A intron_variant MELA-AU 13 70371531 70371531 single base substitution A T intron_variant MELA-AU 13 70371715 70371715 single base substitution G C intron_variant MELA-AU 13 70371725 70371725 single base substitution G A intron_variant MELA-AU 13 70371789 70371789 single base substitution A T intron_variant MELA-AU 13 70372066 70372066 single base substitution C T intron_variant MELA-AU 13 70372227 70372227 single base substitution A G intron_variant MELA-AU 13 70372422 70372422 single base substitution C T intron_variant MELA-AU 13 70372643 70372643 single base substitution G A intron_variant MELA-AU 13 70372685 70372685 single base substitution C T intron_variant MELA-AU 13 70372854 70372854 single base substitution C T intron_variant MELA-AU 13 70372979 70372979 single base substitution C T intron_variant MELA-AU 13 70373038 70373038 single base substitution C T intron_variant MELA-AU 13 70373175 70373175 single base substitution C T intron_variant MELA-AU 13 70373358 70373358 single base substitution G A intron_variant MELA-AU 13 70373472 70373472 single base substitution G A intron_variant MELA-AU 13 70373485 70373485 single base substitution C T intron_variant MELA-AU 13 70373543 70373543 single base substitution C T intron_variant MELA-AU 13 70373618 70373618 single base substitution C T intron_variant MELA-AU 13 70373690 70373690 single base substitution C T intron_variant MELA-AU 13 70373704 70373704 single base substitution C T intron_variant MELA-AU 13 70373859 70373859 single base substitution C T intron_variant MELA-AU 13 70373918 70373918 single base substitution G C intron_variant MELA-AU 13 70373967 70373967 single base substitution G A intron_variant MELA-AU 13 70374098 70374098 single base substitution C T intron_variant MELA-AU 13 70374146 70374146 single base substitution C T intron_variant MELA-AU 13 70374172 70374172 single base substitution G A intron_variant MELA-AU 13 70374257 70374257 single base substitution C T intron_variant MELA-AU 13 70374282 70374282 single base substitution C T intron_variant MELA-AU 13 70374383 70374383 deletion of <=200bp T - intron_variant MELA-AU 13 70374412 70374412 single base substitution C T intron_variant MELA-AU 13 70374438 70374438 single base substitution C T intron_variant MELA-AU 13 70374476 70374476 single base substitution G A intron_variant MELA-AU 13 70374533 70374533 single base substitution A T intron_variant MELA-AU 13 70374728 70374728 single base substitution C T intron_variant MELA-AU 13 70374734 70374734 single base substitution T G intron_variant MELA-AU 13 70374768 70374768 single base substitution G A intron_variant MELA-AU 13 70374775 70374775 single base substitution C T intron_variant MELA-AU 13 70374841 70374841 single base substitution C T intron_variant MELA-AU 13 70374891 70374891 single base substitution C T intron_variant MELA-AU 13 70375003 70375003 single base substitution G A intron_variant MELA-AU 13 70375151 70375151 single base substitution G A intron_variant MELA-AU 13 70375207 70375207 single base substitution G A intron_variant MELA-AU 13 70375621 70375621 single base substitution G T intron_variant MELA-AU 13 70375667 70375667 single base substitution T C intron_variant MELA-AU 13 70375766 70375766 single base substitution G A intron_variant MELA-AU 13 70376024 70376024 single base substitution C T intron_variant MELA-AU 13 70376035 70376035 single base substitution G A intron_variant MELA-AU 13 70376144 70376144 single base substitution C T intron_variant MELA-AU 13 70376192 70376192 single base substitution C T intron_variant MELA-AU 13 70376263 70376263 single base substitution C T intron_variant MELA-AU 13 70376343 70376343 single base substitution G A intron_variant MELA-AU 13 70376421 70376421 single base substitution C T intron_variant MELA-AU 13 70376564 70376564 single base substitution G A intron_variant MELA-AU 13 70376746 70376746 single base substitution G A intron_variant MELA-AU 13 70376839 70376839 single base substitution G A intron_variant MELA-AU 13 70376881 70376881 single base substitution C T intron_variant MELA-AU 13 70376895 70376895 single base substitution G A intron_variant MELA-AU 13 70376968 70376968 single base substitution C T intron_variant MELA-AU 13 70377055 70377055 single base substitution A C intron_variant MELA-AU 13 70377072 70377072 single base substitution G A intron_variant MELA-AU 13 70377110 70377110 single base substitution C T intron_variant MELA-AU 13 70377147 70377147 single base substitution C T intron_variant MELA-AU 13 70377162 70377162 single base substitution G A intron_variant MELA-AU 13 70377261 70377261 single base substitution T A intron_variant MELA-AU 13 70377620 70377620 single base substitution C T intron_variant MELA-AU 13 70377722 70377722 single base substitution G A intron_variant MELA-AU 13 70377829 70377829 single base substitution G A intron_variant MELA-AU 13 70377830 70377830 single base substitution G A intron_variant MELA-AU 13 70377830 70377830 single base substitution G T intron_variant MELA-AU 13 70377853 70377853 single base substitution G T intron_variant MELA-AU 13 70377900 70377900 single base substitution G A intron_variant MELA-AU 13 70377987 70377987 single base substitution G A intron_variant MELA-AU 13 70378029 70378029 single base substitution C T intron_variant MELA-AU 13 70378196 70378196 single base substitution A G intron_variant MELA-AU 13 70378371 70378371 single base substitution G T intron_variant MELA-AU 13 70378376 70378376 single base substitution C T intron_variant MELA-AU 13 70378443 70378443 single base substitution G A intron_variant MELA-AU 13 70378513 70378514 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 13 70378681 70378681 single base substitution C T intron_variant MELA-AU 13 70378761 70378761 single base substitution G A intron_variant MELA-AU 13 70378819 70378819 single base substitution C T intron_variant MELA-AU 13 70378920 70378920 single base substitution G A intron_variant MELA-AU 13 70378947 70378947 single base substitution G A intron_variant MELA-AU 13 70378989 70378989 single base substitution G A intron_variant MELA-AU 13 70379042 70379042 single base substitution C T intron_variant MELA-AU 13 70379043 70379043 single base substitution C T intron_variant MELA-AU 13 70379155 70379155 single base substitution G A intron_variant MELA-AU 13 70379224 70379224 single base substitution C T intron_variant MELA-AU 13 70379297 70379297 single base substitution C T intron_variant MELA-AU 13 70379338 70379338 single base substitution C T intron_variant MELA-AU 13 70379344 70379344 single base substitution C T intron_variant MELA-AU 13 70379531 70379531 single base substitution C G intron_variant MELA-AU 13 70379541 70379541 single base substitution G A intron_variant MELA-AU 13 70379740 70379740 single base substitution A G intron_variant MELA-AU 13 70379814 70379814 single base substitution G A intron_variant MELA-AU 13 70380036 70380036 single base substitution G A intron_variant MELA-AU 13 70380084 70380084 single base substitution G A intron_variant MELA-AU 13 70380297 70380297 single base substitution G A intron_variant MELA-AU 13 70380320 70380320 single base substitution C T intron_variant MELA-AU 13 70380328 70380328 single base substitution C T intron_variant MELA-AU 13 70380331 70380331 single base substitution C T intron_variant MELA-AU 13 70380414 70380414 single base substitution C T intron_variant MELA-AU 13 70380488 70380488 single base substitution C A intron_variant MELA-AU 13 70380541 70380541 single base substitution C T intron_variant MELA-AU 13 70380831 70380831 single base substitution G A intron_variant MELA-AU 13 70380951 70380951 single base substitution G A intron_variant MELA-AU 13 70380953 70380953 single base substitution C T intron_variant MELA-AU 13 70380960 70380960 single base substitution G A intron_variant MELA-AU 13 70381001 70381001 single base substitution G A intron_variant MELA-AU 13 70381139 70381139 single base substitution C T intron_variant MELA-AU 13 70381190 70381190 single base substitution G A intron_variant MELA-AU 13 70381241 70381241 single base substitution G A intron_variant MELA-AU 13 70381244 70381244 single base substitution C T intron_variant MELA-AU 13 70381272 70381272 single base substitution C T intron_variant MELA-AU 13 70381373 70381373 single base substitution G T intron_variant MELA-AU 13 70381520 70381520 single base substitution G A intron_variant MELA-AU 13 70381616 70381616 single base substitution T C intron_variant MELA-AU 13 70381704 70381704 single base substitution C T intron_variant MELA-AU 13 70381776 70381776 single base substitution G A intron_variant MELA-AU 13 70381897 70381897 single base substitution T C intron_variant MELA-AU 13 70381931 70381931 single base substitution G A intron_variant MELA-AU 13 70381996 70381996 single base substitution G A intron_variant MELA-AU 13 70382047 70382047 single base substitution C T intron_variant MELA-AU 13 70382066 70382066 single base substitution C T intron_variant MELA-AU 13 70382142 70382142 single base substitution G A intron_variant MELA-AU 13 70382232 70382232 single base substitution C T intron_variant MELA-AU 13 70382321 70382321 single base substitution G A intron_variant MELA-AU 13 70382400 70382400 single base substitution C T intron_variant MELA-AU 13 70382542 70382542 single base substitution C T intron_variant MELA-AU 13 70382612 70382612 single base substitution C T intron_variant MELA-AU 13 70382634 70382634 single base substitution G A intron_variant MELA-AU 13 70382705 70382705 single base substitution C T intron_variant MELA-AU 13 70382738 70382738 single base substitution G A intron_variant MELA-AU 13 70382855 70382855 single base substitution G A intron_variant MELA-AU 13 70382919 70382919 single base substitution G C intron_variant MELA-AU 13 70383054 70383054 single base substitution G A intron_variant MELA-AU 13 70383091 70383091 single base substitution G A intron_variant MELA-AU 13 70383171 70383171 deletion of <=200bp A - intron_variant MELA-AU 13 70383216 70383216 single base substitution G A intron_variant MELA-AU 13 70383233 70383233 single base substitution G A intron_variant MELA-AU 13 70383282 70383282 single base substitution C T intron_variant MELA-AU 13 70383499 70383499 single base substitution G A intron_variant MELA-AU 13 70383582 70383582 single base substitution C A intron_variant MELA-AU 13 70383608 70383608 single base substitution A C intron_variant MELA-AU 13 70383702 70383702 single base substitution G A intron_variant MELA-AU 13 70383703 70383703 single base substitution A T intron_variant MELA-AU 13 70383706 70383706 single base substitution T G intron_variant MELA-AU 13 70383772 70383772 single base substitution T A intron_variant MELA-AU 13 70383860 70383860 single base substitution C T intron_variant MELA-AU 13 70383861 70383861 single base substitution G A intron_variant MELA-AU 13 70383890 70383890 single base substitution A C intron_variant MELA-AU 13 70384023 70384023 single base substitution G A intron_variant MELA-AU 13 70384237 70384237 single base substitution C T intron_variant MELA-AU 13 70384376 70384376 single base substitution C T intron_variant MELA-AU 13 70384389 70384389 single base substitution G A intron_variant MELA-AU 13 70384436 70384436 single base substitution G A intron_variant MELA-AU 13 70384641 70384641 single base substitution C T intron_variant MELA-AU 13 70384849 70384849 single base substitution C A intron_variant MELA-AU 13 70384876 70384876 single base substitution A G intron_variant MELA-AU 13 70384939 70384939 single base substitution C T intron_variant MELA-AU 13 70385027 70385027 single base substitution G T intron_variant MELA-AU 13 70385028 70385028 single base substitution G A intron_variant MELA-AU 13 70385041 70385041 single base substitution C T intron_variant MELA-AU 13 70385091 70385091 single base substitution G A intron_variant MELA-AU 13 70385146 70385146 single base substitution G A intron_variant MELA-AU 13 70385196 70385196 single base substitution C T intron_variant MELA-AU 13 70385227 70385227 single base substitution G A intron_variant MELA-AU 13 70385231 70385231 single base substitution G A intron_variant MELA-AU 13 70385377 70385377 single base substitution G A intron_variant MELA-AU 13 70385443 70385443 single base substitution G A intron_variant MELA-AU 13 70385631 70385631 single base substitution G A intron_variant MELA-AU 13 70385696 70385696 single base substitution G A intron_variant MELA-AU 13 70385725 70385725 single base substitution C T intron_variant MELA-AU 13 70385858 70385858 single base substitution C T intron_variant MELA-AU 13 70386012 70386012 single base substitution G A intron_variant MELA-AU 13 70386110 70386110 single base substitution C T intron_variant MELA-AU 13 70386186 70386186 single base substitution C T intron_variant MELA-AU 13 70386351 70386351 single base substitution G A intron_variant MELA-AU 13 70386363 70386363 single base substitution C T intron_variant MELA-AU 13 70386502 70386502 single base substitution C T intron_variant MELA-AU 13 70386509 70386509 single base substitution G A intron_variant MELA-AU 13 70386520 70386520 single base substitution G A intron_variant MELA-AU 13 70386661 70386661 single base substitution G T intron_variant MELA-AU 13 70386726 70386726 single base substitution C T intron_variant MELA-AU 13 70386811 70386811 single base substitution G A intron_variant MELA-AU 13 70386816 70386816 single base substitution G A intron_variant MELA-AU 13 70386859 70386859 single base substitution C T intron_variant MELA-AU 13 70387176 70387176 single base substitution A T intron_variant MELA-AU 13 70387293 70387293 single base substitution C T intron_variant MELA-AU 13 70387489 70387489 single base substitution G A intron_variant MELA-AU 13 70387613 70387613 single base substitution T C intron_variant MELA-AU 13 70387742 70387742 single base substitution T C intron_variant MELA-AU 13 70388099 70388099 single base substitution G A intron_variant MELA-AU 13 70388177 70388177 single base substitution A T intron_variant MELA-AU 13 70388193 70388193 single base substitution G A intron_variant MELA-AU 13 70388234 70388234 single base substitution G A intron_variant MELA-AU 13 70388285 70388285 single base substitution C T intron_variant MELA-AU 13 70388423 70388423 single base substitution C T intron_variant MELA-AU 13 70388484 70388484 single base substitution T A intron_variant MELA-AU 13 70388496 70388496 single base substitution G A intron_variant MELA-AU 13 70388663 70388663 single base substitution A G intron_variant MELA-AU 13 70388678 70388678 single base substitution A T intron_variant MELA-AU 13 70389210 70389210 single base substitution G A intron_variant MELA-AU 13 70389349 70389349 single base substitution G A intron_variant MELA-AU 13 70389354 70389354 single base substitution G A intron_variant MELA-AU 13 70389359 70389359 single base substitution C T intron_variant MELA-AU 13 70389441 70389441 single base substitution C T intron_variant MELA-AU 13 70389513 70389513 single base substitution G A intron_variant MELA-AU 13 70389582 70389582 single base substitution G A intron_variant MELA-AU 13 70389677 70389677 single base substitution G A intron_variant MELA-AU 13 70389766 70389766 single base substitution C T intron_variant MELA-AU 13 70389856 70389856 single base substitution C T intron_variant MELA-AU 13 70389868 70389868 single base substitution G A intron_variant MELA-AU 13 70389933 70389933 single base substitution G A intron_variant MELA-AU 13 70390392 70390392 single base substitution T C intron_variant MELA-AU 13 70390515 70390515 single base substitution C T intron_variant MELA-AU 13 70390571 70390571 single base substitution C T intron_variant MELA-AU 13 70390585 70390585 single base substitution G A intron_variant MELA-AU 13 70390616 70390616 single base substitution G A intron_variant MELA-AU 13 70390635 70390635 single base substitution G A intron_variant MELA-AU 13 70390666 70390667 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 70390866 70390866 single base substitution C G intron_variant MELA-AU 13 70391191 70391191 single base substitution C A intron_variant MELA-AU 13 70391217 70391217 single base substitution C A intron_variant MELA-AU 13 70391333 70391333 single base substitution C G intron_variant MELA-AU 13 70391357 70391357 single base substitution C G intron_variant MELA-AU 13 70391365 70391365 single base substitution C T intron_variant MELA-AU 13 70391408 70391408 single base substitution C G intron_variant MELA-AU 13 70391408 70391408 single base substitution C T intron_variant MELA-AU 13 70391423 70391423 single base substitution C T intron_variant MELA-AU 13 70391431 70391431 single base substitution C T intron_variant MELA-AU 13 70391432 70391432 single base substitution C A intron_variant MELA-AU 13 70391574 70391574 single base substitution C T intron_variant MELA-AU 13 70391595 70391595 single base substitution G A intron_variant MELA-AU 13 70391609 70391609 single base substitution C T intron_variant MELA-AU 13 70391686 70391686 single base substitution T A intron_variant MELA-AU 13 70391783 70391783 single base substitution T A intron_variant MELA-AU 13 70391851 70391851 single base substitution G A intron_variant MELA-AU 13 70391871 70391871 single base substitution G A intron_variant MELA-AU 13 70391905 70391905 single base substitution G A intron_variant MELA-AU 13 70391912 70391912 single base substitution G A intron_variant MELA-AU 13 70391968 70391968 single base substitution C T intron_variant MELA-AU 13 70391978 70391978 single base substitution G A intron_variant MELA-AU 13 70392015 70392015 single base substitution T A intron_variant MELA-AU 13 70392016 70392016 single base substitution C T intron_variant MELA-AU 13 70392166 70392166 single base substitution G A intron_variant MELA-AU 13 70392180 70392180 single base substitution G A intron_variant MELA-AU 13 70392359 70392359 single base substitution T A intron_variant MELA-AU 13 70392394 70392394 single base substitution C T intron_variant MELA-AU 13 70392487 70392487 single base substitution G A intron_variant MELA-AU 13 70392544 70392544 single base substitution G A intron_variant MELA-AU 13 70392556 70392556 single base substitution T C intron_variant MELA-AU 13 70392578 70392578 single base substitution C T intron_variant MELA-AU 13 70392633 70392633 single base substitution G A intron_variant MELA-AU 13 70392716 70392716 single base substitution C T intron_variant MELA-AU 13 70392790 70392790 single base substitution G A intron_variant MELA-AU 13 70392813 70392813 single base substitution G A intron_variant MELA-AU 13 70393094 70393094 single base substitution C T intron_variant MELA-AU 13 70393157 70393158 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 13 70393227 70393227 single base substitution T C intron_variant MELA-AU 13 70393299 70393299 single base substitution C T intron_variant MELA-AU 13 70393349 70393349 single base substitution G A intron_variant MELA-AU 13 70393364 70393364 single base substitution G A intron_variant MELA-AU 13 70393744 70393744 single base substitution T A intron_variant MELA-AU 13 70393826 70393826 single base substitution G A intron_variant MELA-AU 13 70393831 70393831 single base substitution G A intron_variant MELA-AU 13 70393879 70393879 single base substitution C T intron_variant MELA-AU 13 70393988 70393988 single base substitution C T intron_variant MELA-AU 13 70394005 70394005 single base substitution C T intron_variant MELA-AU 13 70394155 70394155 single base substitution C T intron_variant MELA-AU 13 70394207 70394207 single base substitution C A intron_variant MELA-AU 13 70394230 70394230 single base substitution G A intron_variant MELA-AU 13 70394253 70394253 single base substitution C T intron_variant MELA-AU 13 70394259 70394259 single base substitution C T intron_variant MELA-AU 13 70394283 70394283 single base substitution C T intron_variant MELA-AU 13 70394334 70394334 single base substitution C T intron_variant MELA-AU 13 70394418 70394418 single base substitution C T intron_variant MELA-AU 13 70394472 70394472 single base substitution C A intron_variant MELA-AU 13 70394481 70394481 single base substitution C T intron_variant MELA-AU 13 70394485 70394485 single base substitution C T intron_variant MELA-AU 13 70394485 70394486 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 70394531 70394531 single base substitution C T intron_variant MELA-AU 13 70394655 70394655 single base substitution G A intron_variant MELA-AU 13 70394679 70394679 single base substitution G A intron_variant MELA-AU 13 70394970 70394970 single base substitution C G intron_variant MELA-AU 13 70395180 70395180 single base substitution G A intron_variant MELA-AU 13 70395189 70395189 single base substitution C A intron_variant MELA-AU 13 70395193 70395193 single base substitution G A intron_variant MELA-AU 13 70395217 70395217 single base substitution G A intron_variant MELA-AU 13 70395537 70395537 single base substitution C T intron_variant MELA-AU 13 70395666 70395666 single base substitution C T intron_variant MELA-AU 13 70395667 70395667 single base substitution G A intron_variant MELA-AU 13 70395759 70395759 single base substitution A T intron_variant MELA-AU 13 70395766 70395766 single base substitution G A intron_variant MELA-AU 13 70395866 70395866 single base substitution C T intron_variant MELA-AU 13 70395898 70395898 single base substitution C T intron_variant MELA-AU 13 70395902 70395902 single base substitution C T intron_variant MELA-AU 13 70395920 70395920 single base substitution C T intron_variant MELA-AU 13 70395951 70395951 single base substitution C T intron_variant MELA-AU 13 70396114 70396114 single base substitution G A intron_variant MELA-AU 13 70396128 70396128 single base substitution G T intron_variant MELA-AU 13 70396130 70396130 single base substitution G C intron_variant MELA-AU 13 70396313 70396313 single base substitution G A intron_variant MELA-AU 13 70396317 70396317 single base substitution G A intron_variant MELA-AU 13 70396408 70396408 single base substitution C T intron_variant MELA-AU 13 70396418 70396418 single base substitution G A intron_variant MELA-AU 13 70396453 70396453 single base substitution G A intron_variant MELA-AU 13 70396506 70396506 single base substitution C T intron_variant MELA-AU 13 70396653 70396653 single base substitution C T intron_variant MELA-AU 13 70396694 70396694 single base substitution G A intron_variant MELA-AU 13 70397011 70397011 single base substitution G A intron_variant MELA-AU 13 70397058 70397058 single base substitution T C intron_variant MELA-AU 13 70397161 70397161 single base substitution A C intron_variant MELA-AU 13 70397221 70397221 single base substitution A G intron_variant MELA-AU 13 70397480 70397480 single base substitution A G intron_variant MELA-AU 13 70397590 70397590 single base substitution C T intron_variant MELA-AU 13 70397626 70397626 single base substitution C T intron_variant MELA-AU 13 70397691 70397691 single base substitution A G intron_variant MELA-AU 13 70397709 70397709 single base substitution G A intron_variant MELA-AU 13 70397747 70397747 single base substitution G A intron_variant MELA-AU 13 70397878 70397878 single base substitution C T intron_variant MELA-AU 13 70398408 70398408 single base substitution A T intron_variant MELA-AU 13 70398548 70398548 single base substitution G A intron_variant MELA-AU 13 70398554 70398554 single base substitution T G intron_variant MELA-AU 13 70398677 70398677 single base substitution G A intron_variant MELA-AU 13 70398736 70398736 single base substitution G A intron_variant MELA-AU 13 70398898 70398898 single base substitution G A intron_variant MELA-AU 13 70398923 70398923 single base substitution G A intron_variant MELA-AU 13 70398944 70398944 single base substitution C T intron_variant MELA-AU 13 70399072 70399072 single base substitution G A intron_variant MELA-AU 13 70399119 70399119 single base substitution C T intron_variant MELA-AU 13 70399162 70399162 single base substitution G A intron_variant MELA-AU 13 70399208 70399208 single base substitution G A intron_variant MELA-AU 13 70399552 70399552 single base substitution G A intron_variant MELA-AU 13 70399605 70399605 single base substitution G A intron_variant MELA-AU 13 70399616 70399616 single base substitution C T intron_variant MELA-AU 13 70399623 70399624 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 70399691 70399691 single base substitution C T intron_variant MELA-AU 13 70399769 70399769 single base substitution G A intron_variant MELA-AU 13 70399964 70399964 single base substitution G A intron_variant MELA-AU 13 70400273 70400273 single base substitution G A intron_variant MELA-AU 13 70400311 70400311 single base substitution G A intron_variant MELA-AU 13 70400326 70400326 single base substitution G A intron_variant MELA-AU 13 70400464 70400464 single base substitution C T intron_variant MELA-AU 13 70400571 70400571 single base substitution C T intron_variant MELA-AU 13 70400583 70400583 single base substitution G A intron_variant MELA-AU 13 70400730 70400730 single base substitution G A intron_variant MELA-AU 13 70400871 70400871 single base substitution C T intron_variant MELA-AU 13 70400885 70400885 single base substitution G A intron_variant MELA-AU 13 70400950 70400950 single base substitution G A intron_variant MELA-AU 13 70401145 70401145 single base substitution C T intron_variant MELA-AU 13 70401173 70401173 single base substitution A G intron_variant MELA-AU 13 70401181 70401181 single base substitution G A intron_variant MELA-AU 13 70401287 70401287 single base substitution G A intron_variant MELA-AU 13 70401341 70401341 single base substitution G A intron_variant MELA-AU 13 70401456 70401456 single base substitution C T intron_variant MELA-AU 13 70401616 70401616 single base substitution C G intron_variant MELA-AU 13 70401695 70401695 single base substitution C A intron_variant MELA-AU 13 70401708 70401708 single base substitution G A intron_variant MELA-AU 13 70401817 70401817 single base substitution C T intron_variant MELA-AU 13 70401981 70401981 single base substitution A T intron_variant MELA-AU 13 70402024 70402024 single base substitution C G intron_variant MELA-AU 13 70402059 70402059 single base substitution C T intron_variant MELA-AU 13 70402080 70402080 single base substitution A T intron_variant MELA-AU 13 70402294 70402294 single base substitution G A intron_variant MELA-AU 13 70402425 70402425 single base substitution G A intron_variant MELA-AU 13 70402426 70402426 single base substitution G A intron_variant MELA-AU 13 70402488 70402488 single base substitution G A intron_variant MELA-AU 13 70402565 70402565 single base substitution C G intron_variant MELA-AU 13 70402612 70402612 single base substitution G A intron_variant MELA-AU 13 70402625 70402625 single base substitution G A intron_variant MELA-AU 13 70402672 70402672 single base substitution C G intron_variant MELA-AU 13 70402692 70402692 single base substitution G A intron_variant MELA-AU 13 70402974 70402974 single base substitution G A intron_variant MELA-AU 13 70403048 70403048 single base substitution G A intron_variant MELA-AU 13 70403072 70403072 single base substitution C T intron_variant MELA-AU 13 70403323 70403323 single base substitution A T intron_variant MELA-AU 13 70403355 70403355 single base substitution C T intron_variant MELA-AU 13 70403498 70403498 single base substitution G A intron_variant MELA-AU 13 70403540 70403540 single base substitution G A intron_variant MELA-AU 13 70403619 70403619 single base substitution A G intron_variant MELA-AU 13 70403736 70403736 single base substitution C T intron_variant MELA-AU 13 70403823 70403823 single base substitution C T intron_variant MELA-AU 13 70403934 70403935 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 70404125 70404125 single base substitution A G intron_variant MELA-AU 13 70404176 70404176 single base substitution G A intron_variant MELA-AU 13 70404380 70404380 single base substitution G A intron_variant MELA-AU 13 70404387 70404387 single base substitution G A intron_variant MELA-AU 13 70404516 70404516 single base substitution C T intron_variant MELA-AU 13 70404664 70404664 single base substitution A T intron_variant MELA-AU 13 70404718 70404718 single base substitution G A intron_variant MELA-AU 13 70404890 70404890 single base substitution C T intron_variant MELA-AU 13 70404988 70404988 single base substitution C T intron_variant MELA-AU 13 70405044 70405044 single base substitution G A intron_variant MELA-AU 13 70405081 70405081 single base substitution C T intron_variant MELA-AU 13 70405093 70405093 single base substitution G A intron_variant MELA-AU 13 70405127 70405127 single base substitution G C intron_variant MELA-AU 13 70405306 70405306 single base substitution G A intron_variant MELA-AU 13 70405385 70405385 single base substitution G A intron_variant MELA-AU 13 70405474 70405520 deletion of <=200bp GCTAGCAGATTTGGATAAATTCCTGGAAATATACCACTGTCCTATAT - intron_variant MELA-AU 13 70405487 70405487 single base substitution G A intron_variant MELA-AU 13 70405529 70405529 single base substitution G A intron_variant MELA-AU 13 70405624 70405624 single base substitution G A intron_variant MELA-AU 13 70405636 70405636 single base substitution G A intron_variant MELA-AU 13 70405645 70405645 single base substitution C T intron_variant MELA-AU 13 70405657 70405657 single base substitution G A intron_variant MELA-AU 13 70405701 70405701 single base substitution G A intron_variant MELA-AU 13 70405704 70405704 single base substitution G A intron_variant MELA-AU 13 70405963 70405963 single base substitution G A intron_variant MELA-AU 13 70406048 70406048 single base substitution C T intron_variant MELA-AU 13 70406072 70406072 single base substitution G A intron_variant MELA-AU 13 70406107 70406107 single base substitution G A intron_variant MELA-AU 13 70406142 70406142 single base substitution T C intron_variant MELA-AU 13 70406154 70406154 single base substitution C T intron_variant MELA-AU 13 70406239 70406239 single base substitution G C intron_variant MELA-AU 13 70406358 70406358 single base substitution G A intron_variant MELA-AU 13 70406375 70406375 single base substitution C T intron_variant MELA-AU 13 70406523 70406523 single base substitution A G intron_variant MELA-AU 13 70406610 70406610 single base substitution C T intron_variant MELA-AU 13 70406645 70406645 single base substitution A T intron_variant MELA-AU 13 70406675 70406675 single base substitution C A intron_variant MELA-AU 13 70406675 70406675 single base substitution C T intron_variant MELA-AU 13 70406847 70406847 single base substitution G A intron_variant MELA-AU 13 70406966 70406966 single base substitution G A intron_variant MELA-AU 13 70406980 70406980 single base substitution G A intron_variant MELA-AU 13 70406986 70406986 single base substitution G A intron_variant MELA-AU 13 70406987 70406987 single base substitution G A intron_variant MELA-AU 13 70407315 70407315 single base substitution G A intron_variant MELA-AU 13 70407323 70407323 single base substitution C T intron_variant MELA-AU 13 70407405 70407406 multiple base substitution (>=2bp and <=200bp) AT TA intron_variant MELA-AU 13 70407595 70407595 single base substitution G A intron_variant MELA-AU 13 70407609 70407609 single base substitution G A intron_variant MELA-AU 13 70407736 70407736 single base substitution G A intron_variant MELA-AU 13 70407982 70407982 single base substitution C T intron_variant MELA-AU 13 70408054 70408054 single base substitution A T intron_variant MELA-AU 13 70408233 70408233 single base substitution G A intron_variant MELA-AU 13 70408368 70408368 single base substitution G A intron_variant MELA-AU 13 70408421 70408421 single base substitution T A intron_variant MELA-AU 13 70408421 70408421 single base substitution T C intron_variant MELA-AU 13 70408913 70408913 single base substitution C T intron_variant MELA-AU 13 70409091 70409091 single base substitution T A intron_variant MELA-AU 13 70409112 70409112 single base substitution T A intron_variant MELA-AU 13 70409334 70409334 single base substitution A G intron_variant MELA-AU 13 70409394 70409394 single base substitution C T intron_variant MELA-AU 13 70409463 70409463 single base substitution G A intron_variant MELA-AU 13 70409663 70409663 single base substitution G A intron_variant MELA-AU 13 70409683 70409683 single base substitution C T intron_variant MELA-AU 13 70409685 70409685 single base substitution C T intron_variant MELA-AU 13 70409690 70409690 single base substitution T C intron_variant MELA-AU 13 70409830 70409830 single base substitution G A intron_variant MELA-AU 13 70409957 70409957 single base substitution A T intron_variant MELA-AU 13 70410025 70410025 single base substitution C T intron_variant MELA-AU 13 70410107 70410107 single base substitution C T intron_variant MELA-AU 13 70410188 70410188 single base substitution A T intron_variant MELA-AU 13 70410329 70410329 single base substitution C T intron_variant MELA-AU 13 70410419 70410419 single base substitution A T intron_variant MELA-AU 13 70410512 70410512 single base substitution G A intron_variant MELA-AU 13 70410600 70410600 single base substitution G A intron_variant MELA-AU 13 70410722 70410722 single base substitution G A intron_variant MELA-AU 13 70411063 70411063 single base substitution A G intron_variant MELA-AU 13 70411184 70411184 single base substitution A T intron_variant MELA-AU 13 70411328 70411328 single base substitution T A intron_variant MELA-AU 13 70411655 70411655 single base substitution G A intron_variant MELA-AU 13 70411887 70411887 single base substitution C T intron_variant MELA-AU 13 70411956 70411956 single base substitution C T intron_variant MELA-AU 13 70412184 70412184 single base substitution G A intron_variant MELA-AU 13 70412423 70412423 single base substitution C T intron_variant MELA-AU 13 70412489 70412489 single base substitution G A intron_variant MELA-AU 13 70412545 70412545 single base substitution C T intron_variant MELA-AU 13 70412685 70412685 single base substitution C T intron_variant MELA-AU 13 70412775 70412775 single base substitution A G intron_variant MELA-AU 13 70412801 70412801 single base substitution C T intron_variant MELA-AU 13 70412870 70412870 single base substitution C T intron_variant MELA-AU 13 70413128 70413128 single base substitution C T missense_variant G272E 815G>A MELA-AU 13 70413128 70413128 single base substitution C T missense_variant G465E 1394G>A MELA-AU 13 70413255 70413255 single base substitution C T missense_variant D230N 688G>A MELA-AU 13 70413255 70413255 single base substitution C T missense_variant D423N 1267G>A MELA-AU 13 70413356 70413356 single base substitution C T intron_variant MELA-AU 13 70413458 70413458 single base substitution G A intron_variant MELA-AU 13 70413774 70413774 single base substitution G A intron_variant MELA-AU 13 70414142 70414142 single base substitution G A intron_variant MELA-AU 13 70414319 70414319 single base substitution A G intron_variant MELA-AU 13 70414491 70414491 single base substitution G A intron_variant MELA-AU 13 70414744 70414744 single base substitution G A intron_variant MELA-AU 13 70414754 70414754 single base substitution C T intron_variant MELA-AU 13 70414850 70414850 single base substitution G A intron_variant MELA-AU 13 70414959 70414959 single base substitution G A intron_variant MELA-AU 13 70415077 70415077 single base substitution G A intron_variant MELA-AU 13 70415172 70415172 single base substitution G A intron_variant MELA-AU 13 70415184 70415184 single base substitution T C intron_variant MELA-AU 13 70415308 70415308 single base substitution C T intron_variant MELA-AU 13 70415357 70415357 single base substitution G A intron_variant MELA-AU 13 70415574 70415574 single base substitution A T intron_variant MELA-AU 13 70415679 70415679 single base substitution G A intron_variant MELA-AU 13 70415698 70415698 single base substitution A G intron_variant MELA-AU 13 70415828 70415828 single base substitution G A intron_variant MELA-AU 13 70415829 70415829 single base substitution G A intron_variant MELA-AU 13 70415840 70415840 single base substitution C T intron_variant MELA-AU 13 70415919 70415919 single base substitution G A intron_variant MELA-AU 13 70415938 70415938 single base substitution A G intron_variant MELA-AU 13 70416177 70416177 single base substitution G A intron_variant MELA-AU 13 70416362 70416362 single base substitution G A intron_variant MELA-AU 13 70416363 70416363 single base substitution G A intron_variant MELA-AU 13 70416401 70416401 single base substitution G A intron_variant MELA-AU 13 70416512 70416513 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 70416609 70416609 single base substitution C T intron_variant MELA-AU 13 70416699 70416699 single base substitution G A intron_variant MELA-AU 13 70416787 70416787 single base substitution T A intron_variant MELA-AU 13 70416842 70416842 single base substitution C T intron_variant MELA-AU 13 70417120 70417120 single base substitution C T intron_variant MELA-AU 13 70417168 70417168 single base substitution G A intron_variant MELA-AU 13 70417880 70417880 single base substitution G A intron_variant MELA-AU 13 70418002 70418002 single base substitution A G intron_variant MELA-AU 13 70418160 70418160 single base substitution A C intron_variant MELA-AU 13 70418172 70418172 single base substitution G A intron_variant MELA-AU 13 70418212 70418212 single base substitution G A intron_variant MELA-AU 13 70418301 70418301 single base substitution G A intron_variant MELA-AU 13 70418392 70418392 single base substitution A C intron_variant MELA-AU 13 70418459 70418459 single base substitution C T intron_variant MELA-AU 13 70418472 70418472 single base substitution C T intron_variant MELA-AU 13 70418599 70418599 single base substitution T G intron_variant MELA-AU 13 70418636 70418636 single base substitution C T intron_variant MELA-AU 13 70418694 70418694 single base substitution C T intron_variant MELA-AU 13 70418716 70418716 single base substitution T C intron_variant MELA-AU 13 70418956 70418956 single base substitution C T intron_variant MELA-AU 13 70418963 70418963 single base substitution C T intron_variant MELA-AU 13 70419085 70419085 single base substitution C T intron_variant MELA-AU 13 70419505 70419505 single base substitution G A intron_variant MELA-AU 13 70419679 70419679 single base substitution C T intron_variant MELA-AU 13 70419756 70419756 single base substitution C T intron_variant MELA-AU 13 70419837 70419837 single base substitution G A intron_variant MELA-AU 13 70419942 70419942 single base substitution G A intron_variant MELA-AU 13 70419970 70419970 single base substitution C T intron_variant MELA-AU 13 70420016 70420016 single base substitution G A intron_variant MELA-AU 13 70420115 70420115 single base substitution G A intron_variant MELA-AU 13 70420153 70420153 single base substitution A G intron_variant MELA-AU 13 70420310 70420310 single base substitution G A intron_variant MELA-AU 13 70420333 70420333 single base substitution C T intron_variant MELA-AU 13 70420420 70420420 single base substitution G A intron_variant MELA-AU 13 70420484 70420484 single base substitution C T intron_variant MELA-AU 13 70420543 70420543 single base substitution G A intron_variant MELA-AU 13 70420550 70420550 single base substitution C T intron_variant MELA-AU 13 70420556 70420557 deletion of <=200bp AA - intron_variant MELA-AU 13 70420653 70420653 single base substitution C A intron_variant MELA-AU 13 70420653 70420653 single base substitution C T intron_variant MELA-AU 13 70421126 70421126 single base substitution C T intron_variant MELA-AU 13 70421303 70421303 single base substitution G A intron_variant MELA-AU 13 70421677 70421677 single base substitution G A intron_variant MELA-AU 13 70421834 70421834 single base substitution A T intron_variant MELA-AU 13 70422312 70422312 single base substitution C T intron_variant MELA-AU 13 70422324 70422324 single base substitution C T intron_variant MELA-AU 13 70422349 70422349 single base substitution G A intron_variant MELA-AU 13 70422567 70422567 single base substitution C T intron_variant MELA-AU 13 70422568 70422568 single base substitution C T intron_variant MELA-AU 13 70422770 70422770 single base substitution G A intron_variant MELA-AU 13 70422908 70422908 single base substitution A G intron_variant MELA-AU 13 70423153 70423153 single base substitution C T intron_variant MELA-AU 13 70423153 70423154 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 70423221 70423221 single base substitution C T intron_variant MELA-AU 13 70423234 70423234 single base substitution C T intron_variant MELA-AU 13 70423341 70423341 single base substitution C T intron_variant MELA-AU 13 70423598 70423598 single base substitution G A intron_variant MELA-AU 13 70423621 70423622 deletion of <=200bp TC - intron_variant MELA-AU 13 70423915 70423915 single base substitution G A intron_variant MELA-AU 13 70423977 70423977 single base substitution A T intron_variant MELA-AU 13 70424148 70424148 single base substitution G A intron_variant MELA-AU 13 70424196 70424196 single base substitution G A intron_variant MELA-AU 13 70424208 70424208 single base substitution C T intron_variant MELA-AU 13 70424209 70424209 single base substitution C T intron_variant MELA-AU 13 70424496 70424496 single base substitution C T intron_variant MELA-AU 13 70424751 70424751 single base substitution G A intron_variant MELA-AU 13 70425777 70425777 single base substitution C T intron_variant MELA-AU 13 70425869 70425869 single base substitution C T intron_variant MELA-AU 13 70426318 70426318 single base substitution C T intron_variant MELA-AU 13 70426371 70426371 single base substitution C T intron_variant MELA-AU 13 70426427 70426427 single base substitution T G intron_variant MELA-AU 13 70426452 70426452 single base substitution C T intron_variant MELA-AU 13 70426519 70426519 single base substitution C T intron_variant MELA-AU 13 70426729 70426729 single base substitution G A intron_variant MELA-AU 13 70426733 70426733 single base substitution A T intron_variant MELA-AU 13 70426765 70426765 single base substitution C T intron_variant MELA-AU 13 70426895 70426895 single base substitution C T intron_variant MELA-AU 13 70426954 70426954 single base substitution G A intron_variant MELA-AU 13 70426983 70426983 single base substitution G A intron_variant MELA-AU 13 70427025 70427025 single base substitution G A intron_variant MELA-AU 13 70427093 70427093 single base substitution G A intron_variant MELA-AU 13 70427116 70427116 single base substitution A C intron_variant MELA-AU 13 70427195 70427195 single base substitution C T intron_variant MELA-AU 13 70427206 70427206 single base substitution C T intron_variant MELA-AU 13 70427238 70427238 single base substitution C T intron_variant MELA-AU 13 70427311 70427311 single base substitution C T intron_variant MELA-AU 13 70427325 70427325 single base substitution G A intron_variant MELA-AU 13 70427410 70427410 single base substitution G A intron_variant MELA-AU 13 70427459 70427459 single base substitution C T intron_variant MELA-AU 13 70427481 70427481 single base substitution C T intron_variant MELA-AU 13 70427577 70427577 single base substitution C T intron_variant MELA-AU 13 70427578 70427578 single base substitution G A intron_variant MELA-AU 13 70427643 70427643 single base substitution G A intron_variant MELA-AU 13 70427821 70427821 single base substitution C T intron_variant MELA-AU 13 70428009 70428009 single base substitution G A intron_variant MELA-AU 13 70428050 70428050 single base substitution C T intron_variant MELA-AU 13 70428064 70428064 single base substitution C T intron_variant MELA-AU 13 70428072 70428072 single base substitution C T intron_variant MELA-AU 13 70428197 70428197 single base substitution G A intron_variant MELA-AU 13 70428223 70428223 single base substitution T A intron_variant MELA-AU 13 70428254 70428254 single base substitution T A intron_variant MELA-AU 13 70428285 70428285 single base substitution T C intron_variant MELA-AU 13 70428312 70428312 single base substitution G A intron_variant MELA-AU 13 70428329 70428329 single base substitution A C intron_variant MELA-AU 13 70428383 70428383 single base substitution C G intron_variant MELA-AU 13 70428383 70428383 single base substitution C T intron_variant MELA-AU 13 70428471 70428471 single base substitution G A intron_variant MELA-AU 13 70428491 70428491 single base substitution G A intron_variant MELA-AU 13 70428631 70428631 single base substitution G A intron_variant MELA-AU 13 70428652 70428652 single base substitution T A intron_variant MELA-AU 13 70428654 70428654 single base substitution C T intron_variant MELA-AU 13 70428658 70428658 single base substitution C T intron_variant MELA-AU 13 70428980 70428980 single base substitution G A intron_variant MELA-AU 13 70429043 70429043 single base substitution G A intron_variant MELA-AU 13 70429059 70429059 single base substitution G A intron_variant MELA-AU 13 70429465 70429465 single base substitution T C intron_variant MELA-AU 13 70429473 70429473 single base substitution T C intron_variant MELA-AU 13 70429733 70429733 single base substitution G A intron_variant MELA-AU 13 70429744 70429744 single base substitution G A intron_variant MELA-AU 13 70429773 70429773 single base substitution C T intron_variant MELA-AU 13 70429793 70429793 single base substitution G A intron_variant MELA-AU 13 70429963 70429963 single base substitution T A intron_variant MELA-AU 13 70430239 70430239 single base substitution C T intron_variant MELA-AU 13 70430365 70430365 single base substitution G A intron_variant MELA-AU 13 70430718 70430718 single base substitution G A intron_variant MELA-AU 13 70430791 70430791 single base substitution A T intron_variant MELA-AU 13 70430906 70430906 single base substitution G A intron_variant MELA-AU 13 70431108 70431108 single base substitution C T intron_variant MELA-AU 13 70431285 70431285 single base substitution C T intron_variant MELA-AU 13 70431343 70431343 single base substitution C T intron_variant MELA-AU 13 70431380 70431380 single base substitution A T intron_variant MELA-AU 13 70431550 70431550 single base substitution C T intron_variant MELA-AU 13 70431582 70431582 insertion of <=200bp - C intron_variant MELA-AU 13 70431706 70431706 single base substitution C T intron_variant MELA-AU 13 70431893 70431893 single base substitution G A intron_variant MELA-AU 13 70431898 70431898 single base substitution G A intron_variant MELA-AU 13 70431911 70431911 single base substitution C T intron_variant MELA-AU 13 70432017 70432017 single base substitution G A intron_variant MELA-AU 13 70432092 70432092 single base substitution G A intron_variant MELA-AU 13 70432227 70432227 single base substitution C T intron_variant MELA-AU 13 70432233 70432233 single base substitution C T intron_variant MELA-AU 13 70432316 70432316 single base substitution G A intron_variant MELA-AU 13 70432372 70432372 single base substitution C T intron_variant MELA-AU 13 70432393 70432393 single base substitution G A intron_variant MELA-AU 13 70432754 70432754 single base substitution T G intron_variant MELA-AU 13 70433113 70433113 single base substitution C T intron_variant MELA-AU 13 70433371 70433371 single base substitution C T intron_variant MELA-AU 13 70433681 70433681 single base substitution C T intron_variant MELA-AU 13 70433743 70433743 single base substitution G A intron_variant MELA-AU 13 70433782 70433782 single base substitution T G intron_variant MELA-AU 13 70434141 70434141 single base substitution C T intron_variant MELA-AU 13 70434225 70434225 single base substitution A T intron_variant MELA-AU 13 70434407 70434407 single base substitution C T intron_variant MELA-AU 13 70434833 70434833 single base substitution C T intron_variant MELA-AU 13 70435011 70435011 single base substitution C T intron_variant MELA-AU 13 70435118 70435118 single base substitution C T intron_variant MELA-AU 13 70435384 70435384 single base substitution G A intron_variant MELA-AU 13 70435764 70435764 single base substitution C A intron_variant MELA-AU 13 70436085 70436085 single base substitution G A intron_variant MELA-AU 13 70436098 70436098 insertion of <=200bp - AAAATAAAAT intron_variant MELA-AU 13 70437290 70437290 single base substitution A C intron_variant MELA-AU 13 70437344 70437344 single base substitution T C intron_variant MELA-AU 13 70437377 70437377 single base substitution G A intron_variant MELA-AU 13 70437614 70437614 single base substitution G A intron_variant MELA-AU 13 70437897 70437897 single base substitution C T intron_variant MELA-AU 13 70438000 70438000 single base substitution A T intron_variant MELA-AU 13 70438261 70438261 single base substitution C T intron_variant MELA-AU 13 70438376 70438376 single base substitution G A intron_variant MELA-AU 13 70438445 70438445 single base substitution C T intron_variant MELA-AU 13 70438556 70438556 single base substitution G A intron_variant MELA-AU 13 70438665 70438665 single base substitution C T intron_variant MELA-AU 13 70438732 70438732 single base substitution C G intron_variant MELA-AU 13 70438836 70438836 single base substitution C T intron_variant MELA-AU 13 70438866 70438866 single base substitution A C intron_variant MELA-AU 13 70439044 70439044 single base substitution T A intron_variant MELA-AU 13 70439283 70439283 single base substitution G A intron_variant MELA-AU 13 70439328 70439328 single base substitution C T intron_variant MELA-AU 13 70439630 70439630 single base substitution G A intron_variant MELA-AU 13 70439662 70439662 single base substitution A T intron_variant MELA-AU 13 70439675 70439675 single base substitution C T intron_variant MELA-AU 13 70439678 70439678 single base substitution G A intron_variant MELA-AU 13 70439848 70439848 single base substitution G A intron_variant MELA-AU 13 70439852 70439852 single base substitution A G intron_variant MELA-AU 13 70439878 70439878 single base substitution C T intron_variant MELA-AU 13 70439924 70439924 single base substitution G A intron_variant MELA-AU 13 70439958 70439958 single base substitution G A intron_variant MELA-AU 13 70440336 70440336 single base substitution A T intron_variant MELA-AU 13 70440506 70440506 single base substitution A T intron_variant MELA-AU 13 70441052 70441052 single base substitution G A intron_variant MELA-AU 13 70441086 70441086 single base substitution C T intron_variant MELA-AU 13 70441251 70441251 single base substitution A T intron_variant MELA-AU 13 70441306 70441306 single base substitution G A intron_variant MELA-AU 13 70441527 70441527 single base substitution G A intron_variant MELA-AU 13 70441868 70441868 single base substitution T A intron_variant MELA-AU 13 70441869 70441869 single base substitution C T intron_variant MELA-AU 13 70442068 70442068 single base substitution G A intron_variant MELA-AU 13 70442229 70442229 single base substitution C T intron_variant MELA-AU 13 70442788 70442788 single base substitution A C intron_variant MELA-AU 13 70443955 70443956 multiple base substitution (>=2bp and <=200bp) GT AG intron_variant MELA-AU 13 70444145 70444145 single base substitution A T intron_variant MELA-AU 13 70444217 70444217 single base substitution C T intron_variant MELA-AU 13 70444789 70444789 single base substitution C T intron_variant MELA-AU 13 70444950 70444950 single base substitution G A intron_variant MELA-AU 13 70445141 70445141 single base substitution C T intron_variant MELA-AU 13 70445147 70445147 single base substitution G A intron_variant MELA-AU 13 70445148 70445148 single base substitution G A intron_variant MELA-AU 13 70445194 70445194 single base substitution C T intron_variant MELA-AU 13 70445357 70445357 single base substitution C T intron_variant MELA-AU 13 70445439 70445439 single base substitution C T intron_variant MELA-AU 13 70445444 70445444 single base substitution C T intron_variant MELA-AU 13 70445510 70445510 single base substitution C T intron_variant MELA-AU 13 70445515 70445515 single base substitution G A intron_variant MELA-AU 13 70445539 70445539 single base substitution C A intron_variant MELA-AU 13 70445539 70445539 single base substitution C T intron_variant MELA-AU 13 70445617 70445617 single base substitution C T intron_variant MELA-AU 13 70445671 70445671 single base substitution C T intron_variant MELA-AU 13 70445672 70445672 single base substitution C T intron_variant MELA-AU 13 70445688 70445688 single base substitution C T intron_variant MELA-AU 13 70445800 70445800 single base substitution C T intron_variant MELA-AU 13 70445842 70445842 single base substitution G A intron_variant MELA-AU 13 70445868 70445868 single base substitution T G intron_variant MELA-AU 13 70445884 70445884 single base substitution G A intron_variant MELA-AU 13 70445910 70445910 single base substitution C T intron_variant MELA-AU 13 70446202 70446202 single base substitution A T intron_variant MELA-AU 13 70446370 70446370 single base substitution G A intron_variant MELA-AU 13 70446405 70446405 single base substitution G A intron_variant MELA-AU 13 70446747 70446747 single base substitution C T intron_variant MELA-AU 13 70447174 70447174 single base substitution G A intron_variant MELA-AU 13 70447223 70447223 single base substitution C T intron_variant MELA-AU 13 70447265 70447265 single base substitution C T intron_variant MELA-AU 13 70447492 70447492 single base substitution A G intron_variant MELA-AU 13 70447638 70447638 single base substitution G A intron_variant MELA-AU 13 70448043 70448043 single base substitution G A intron_variant MELA-AU 13 70448080 70448080 single base substitution G A intron_variant MELA-AU 13 70448118 70448126 deletion of <=200bp GATTAATAA - intron_variant MELA-AU 13 70448251 70448252 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 13 70448351 70448351 single base substitution C T intron_variant MELA-AU 13 70448500 70448500 single base substitution C T intron_variant MELA-AU 13 70448552 70448552 single base substitution C T intron_variant MELA-AU 13 70448614 70448614 single base substitution A C intron_variant MELA-AU 13 70448768 70448768 single base substitution C T intron_variant MELA-AU 13 70448978 70448978 single base substitution G A intron_variant MELA-AU 13 70449009 70449010 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 70449062 70449062 single base substitution C T intron_variant MELA-AU 13 70449095 70449095 single base substitution A T intron_variant MELA-AU 13 70449285 70449285 single base substitution C T intron_variant MELA-AU 13 70449401 70449401 single base substitution G A intron_variant MELA-AU 13 70449423 70449423 single base substitution G A intron_variant MELA-AU 13 70449505 70449505 single base substitution A C intron_variant MELA-AU 13 70449605 70449605 single base substitution A G intron_variant MELA-AU 13 70449611 70449611 single base substitution G A intron_variant MELA-AU 13 70449643 70449643 single base substitution G A intron_variant MELA-AU 13 70450041 70450041 single base substitution G A intron_variant MELA-AU 13 70450063 70450063 single base substitution C T intron_variant MELA-AU 13 70450104 70450104 single base substitution G A intron_variant MELA-AU 13 70450195 70450195 insertion of <=200bp - T intron_variant MELA-AU 13 70450201 70450201 single base substitution C T intron_variant MELA-AU 13 70450209 70450209 single base substitution A G intron_variant MELA-AU 13 70450256 70450256 single base substitution C T intron_variant MELA-AU 13 70450364 70450364 single base substitution G A intron_variant MELA-AU 13 70450755 70450755 single base substitution T A intron_variant MELA-AU 13 70450811 70450811 single base substitution C T intron_variant MELA-AU 13 70450817 70450817 single base substitution G A intron_variant MELA-AU 13 70451171 70451171 single base substitution A T intron_variant MELA-AU 13 70451607 70451607 single base substitution T A intron_variant MELA-AU 13 70451692 70451692 single base substitution G A intron_variant MELA-AU 13 70451755 70451755 single base substitution C T intron_variant MELA-AU 13 70451931 70451931 single base substitution C T intron_variant MELA-AU 13 70452516 70452516 single base substitution C T intron_variant MELA-AU 13 70452843 70452843 single base substitution T G intron_variant MELA-AU 13 70452845 70452845 single base substitution G T intron_variant MELA-AU 13 70452847 70452847 single base substitution G T intron_variant MELA-AU 13 70452859 70452859 single base substitution G A intron_variant MELA-AU 13 70452875 70452875 single base substitution G T intron_variant MELA-AU 13 70452896 70452896 single base substitution G A intron_variant MELA-AU 13 70453321 70453321 single base substitution G A intron_variant MELA-AU 13 70453374 70453374 single base substitution C T intron_variant MELA-AU 13 70453663 70453663 single base substitution G A intron_variant MELA-AU 13 70453694 70453694 single base substitution G A intron_variant MELA-AU 13 70453698 70453698 single base substitution C T intron_variant MELA-AU 13 70453720 70453720 single base substitution C T intron_variant MELA-AU 13 70453778 70453778 single base substitution C T intron_variant MELA-AU 13 70453799 70453799 single base substitution C T intron_variant MELA-AU 13 70453886 70453886 single base substitution C T intron_variant MELA-AU 13 70453895 70453895 single base substitution G A intron_variant MELA-AU 13 70454027 70454027 single base substitution G A intron_variant MELA-AU 13 70454095 70454095 single base substitution C T intron_variant MELA-AU 13 70454245 70454245 single base substitution G A intron_variant MELA-AU 13 70454298 70454298 single base substitution G A intron_variant MELA-AU 13 70454330 70454330 single base substitution C T intron_variant MELA-AU 13 70454441 70454441 single base substitution G A intron_variant MELA-AU 13 70454560 70454560 single base substitution G T intron_variant MELA-AU 13 70454743 70454743 single base substitution G A intron_variant MELA-AU 13 70454744 70454744 single base substitution G A intron_variant MELA-AU 13 70454748 70454748 insertion of <=200bp - A intron_variant MELA-AU 13 70454769 70454769 single base substitution C T intron_variant MELA-AU 13 70454958 70454958 single base substitution C T intron_variant MELA-AU 13 70455191 70455191 single base substitution A T intron_variant MELA-AU 13 70455274 70455274 single base substitution C T intron_variant MELA-AU 13 70455553 70455553 single base substitution G A intron_variant MELA-AU 13 70455562 70455562 single base substitution G A intron_variant MELA-AU 13 70455584 70455584 single base substitution C T intron_variant MELA-AU 13 70455708 70455708 single base substitution G A intron_variant MELA-AU 13 70455960 70455960 single base substitution G A intron_variant MELA-AU 13 70456024 70456024 single base substitution T C intron_variant MELA-AU 13 70456125 70456125 single base substitution C T intron_variant MELA-AU 13 70456169 70456169 single base substitution G A intron_variant MELA-AU 13 70456181 70456181 single base substitution G A intron_variant MELA-AU 13 70456233 70456233 single base substitution G A intron_variant MELA-AU 13 70456263 70456263 single base substitution C T intron_variant MELA-AU 13 70456328 70456328 single base substitution C T intron_variant MELA-AU 13 70456507 70456507 single base substitution A T missense_variant L186M 556T>A MELA-AU 13 70456507 70456507 single base substitution A T missense_variant L379M 1135T>A MELA-AU 13 70456627 70456627 single base substitution C T missense_variant E146K 436G>A MELA-AU 13 70456627 70456627 single base substitution C T missense_variant E339K 1015G>A MELA-AU 13 70456716 70456716 single base substitution C T intron_variant MELA-AU 13 70456849 70456849 single base substitution G A intron_variant MELA-AU 13 70456893 70456893 single base substitution G A intron_variant MELA-AU 13 70456947 70456947 single base substitution A G intron_variant MELA-AU 13 70456953 70456953 single base substitution A G intron_variant MELA-AU 13 70457233 70457233 single base substitution C T intron_variant MELA-AU 13 70457475 70457475 single base substitution C T intron_variant MELA-AU 13 70457766 70457766 single base substitution C T intron_variant MELA-AU 13 70457821 70457821 single base substitution G A intron_variant MELA-AU 13 70457987 70457987 single base substitution T C intron_variant MELA-AU 13 70458020 70458020 single base substitution C T intron_variant MELA-AU 13 70458330 70458330 single base substitution G A intron_variant MELA-AU 13 70458444 70458444 single base substitution G A intron_variant MELA-AU 13 70458468 70458468 single base substitution C T intron_variant MELA-AU 13 70458710 70458710 single base substitution G A intron_variant MELA-AU 13 70458735 70458735 single base substitution G A intron_variant MELA-AU 13 70458917 70458917 single base substitution G A intron_variant MELA-AU 13 70458927 70458927 single base substitution C T intron_variant MELA-AU 13 70459310 70459310 single base substitution G A intron_variant MELA-AU 13 70459323 70459323 single base substitution C T intron_variant MELA-AU 13 70459490 70459490 single base substitution G A intron_variant MELA-AU 13 70459617 70459617 single base substitution C T intron_variant MELA-AU 13 70459731 70459731 single base substitution C T intron_variant MELA-AU 13 70459741 70459741 single base substitution C T intron_variant MELA-AU 13 70459770 70459770 single base substitution C T intron_variant MELA-AU 13 70459834 70459835 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 70459913 70459913 single base substitution G A intron_variant MELA-AU 13 70460034 70460034 single base substitution G A intron_variant MELA-AU 13 70460084 70460084 single base substitution G A intron_variant MELA-AU 13 70460189 70460189 single base substitution G A intron_variant MELA-AU 13 70460538 70460538 single base substitution C T intron_variant MELA-AU 13 70460788 70460788 single base substitution A G intron_variant MELA-AU 13 70460873 70460873 single base substitution G A intron_variant MELA-AU 13 70461011 70461011 single base substitution C T intron_variant MELA-AU 13 70461121 70461121 single base substitution G A intron_variant MELA-AU 13 70461142 70461142 single base substitution C T intron_variant MELA-AU 13 70461332 70461332 single base substitution G A intron_variant MELA-AU 13 70461377 70461377 single base substitution T A intron_variant MELA-AU 13 70461407 70461407 single base substitution G A intron_variant MELA-AU 13 70461428 70461428 single base substitution C T intron_variant MELA-AU 13 70461530 70461530 single base substitution C T intron_variant MELA-AU 13 70461596 70461596 single base substitution A T intron_variant MELA-AU 13 70461641 70461641 single base substitution A G intron_variant MELA-AU 13 70461729 70461729 single base substitution C T intron_variant MELA-AU 13 70462005 70462005 single base substitution C T intron_variant MELA-AU 13 70462195 70462195 single base substitution C T intron_variant MELA-AU 13 70462244 70462244 single base substitution T A intron_variant MELA-AU 13 70462345 70462345 single base substitution C T intron_variant MELA-AU 13 70462420 70462420 single base substitution G A intron_variant MELA-AU 13 70462453 70462453 single base substitution C T intron_variant MELA-AU 13 70462501 70462501 single base substitution G A intron_variant MELA-AU 13 70462538 70462538 single base substitution G A intron_variant MELA-AU 13 70462561 70462561 single base substitution T G intron_variant MELA-AU 13 70462565 70462565 single base substitution C T intron_variant MELA-AU 13 70462640 70462640 single base substitution G A intron_variant MELA-AU 13 70462804 70462804 single base substitution C T intron_variant MELA-AU 13 70462936 70462936 single base substitution C G intron_variant MELA-AU 13 70462955 70462955 single base substitution A G intron_variant MELA-AU 13 70462962 70462962 single base substitution C A intron_variant MELA-AU 13 70463025 70463025 single base substitution A G intron_variant MELA-AU 13 70463059 70463059 single base substitution C T intron_variant MELA-AU 13 70463110 70463110 single base substitution C T intron_variant MELA-AU 13 70463141 70463141 single base substitution C T intron_variant MELA-AU 13 70463348 70463348 single base substitution G A intron_variant MELA-AU 13 70463493 70463493 single base substitution G A intron_variant MELA-AU 13 70463557 70463557 single base substitution G A intron_variant MELA-AU 13 70463685 70463685 single base substitution T C intron_variant MELA-AU 13 70463872 70463872 single base substitution C T intron_variant MELA-AU 13 70463958 70463958 single base substitution C T intron_variant MELA-AU 13 70463959 70463959 single base substitution C T intron_variant MELA-AU 13 70463966 70463966 single base substitution G A intron_variant MELA-AU 13 70463987 70463987 single base substitution G A intron_variant MELA-AU 13 70464140 70464140 single base substitution C T intron_variant MELA-AU 13 70464232 70464232 single base substitution G A intron_variant MELA-AU 13 70464269 70464269 single base substitution T C intron_variant MELA-AU 13 70464400 70464400 single base substitution G A intron_variant MELA-AU 13 70464778 70464778 single base substitution G A intron_variant MELA-AU 13 70464812 70464812 single base substitution C T intron_variant MELA-AU 13 70464880 70464880 single base substitution G A intron_variant MELA-AU 13 70464925 70464925 single base substitution C T intron_variant MELA-AU 13 70464964 70464964 single base substitution G A intron_variant MELA-AU 13 70465012 70465012 single base substitution G T intron_variant MELA-AU 13 70465164 70465164 single base substitution G A intron_variant MELA-AU 13 70465220 70465220 single base substitution C T intron_variant MELA-AU 13 70465299 70465299 single base substitution T A intron_variant MELA-AU 13 70465338 70465338 single base substitution C T intron_variant MELA-AU 13 70465374 70465374 single base substitution A T intron_variant MELA-AU 13 70465585 70465585 single base substitution G A intron_variant MELA-AU 13 70465729 70465729 single base substitution G A intron_variant MELA-AU 13 70465882 70465882 single base substitution A G intron_variant MELA-AU 13 70465974 70465974 single base substitution G A intron_variant MELA-AU 13 70466039 70466039 single base substitution T C intron_variant MELA-AU 13 70466511 70466511 single base substitution T A intron_variant MELA-AU 13 70466513 70466513 single base substitution C T intron_variant MELA-AU 13 70466758 70466758 single base substitution C T intron_variant MELA-AU 13 70466762 70466762 single base substitution G A intron_variant MELA-AU 13 70466987 70466987 single base substitution G A intron_variant MELA-AU 13 70467084 70467084 single base substitution G A intron_variant MELA-AU 13 70467107 70467107 single base substitution G A intron_variant MELA-AU 13 70467246 70467246 single base substitution A T intron_variant MELA-AU 13 70467287 70467287 single base substitution G A intron_variant MELA-AU 13 70467318 70467318 single base substitution A T intron_variant MELA-AU 13 70467588 70467588 single base substitution G A intron_variant MELA-AU 13 70467879 70467879 single base substitution C T intron_variant MELA-AU 13 70468021 70468021 single base substitution T C intron_variant MELA-AU 13 70468060 70468060 single base substitution C T intron_variant MELA-AU 13 70468131 70468131 single base substitution C T intron_variant MELA-AU 13 70468208 70468208 single base substitution G A intron_variant MELA-AU 13 70468215 70468215 single base substitution A T intron_variant MELA-AU 13 70468216 70468216 single base substitution G A intron_variant MELA-AU 13 70468255 70468255 single base substitution T C intron_variant MELA-AU 13 70468520 70468520 single base substitution T A intron_variant MELA-AU 13 70468523 70468523 single base substitution C T intron_variant MELA-AU 13 70468717 70468717 single base substitution C T intron_variant MELA-AU 13 70468724 70468724 single base substitution G A intron_variant MELA-AU 13 70468981 70468981 single base substitution G A intron_variant MELA-AU 13 70469026 70469026 single base substitution G A intron_variant MELA-AU 13 70469171 70469171 single base substitution C T intron_variant MELA-AU 13 70469199 70469199 single base substitution C T intron_variant MELA-AU 13 70469221 70469221 single base substitution C T intron_variant MELA-AU 13 70469257 70469257 single base substitution C T intron_variant MELA-AU 13 70469506 70469506 single base substitution C G intron_variant MELA-AU 13 70469712 70469712 single base substitution G A intron_variant MELA-AU 13 70469769 70469769 single base substitution C T intron_variant MELA-AU 13 70469798 70469798 single base substitution C T intron_variant MELA-AU 13 70470574 70470574 single base substitution G A intron_variant MELA-AU 13 70470595 70470595 single base substitution C T intron_variant MELA-AU 13 70470725 70470725 single base substitution C T intron_variant MELA-AU 13 70470811 70470811 single base substitution T A intron_variant MELA-AU 13 70470850 70470850 single base substitution G A intron_variant MELA-AU 13 70471003 70471003 single base substitution C T intron_variant MELA-AU 13 70471040 70471040 single base substitution G A intron_variant MELA-AU 13 70471041 70471041 single base substitution A C intron_variant MELA-AU 13 70471048 70471048 single base substitution C A intron_variant MELA-AU 13 70471184 70471184 single base substitution G A intron_variant MELA-AU 13 70471226 70471226 single base substitution A G intron_variant MELA-AU 13 70471311 70471311 single base substitution G A intron_variant MELA-AU 13 70471444 70471444 single base substitution C T intron_variant MELA-AU 13 70471638 70471638 single base substitution C T intron_variant MELA-AU 13 70471661 70471661 single base substitution C T intron_variant MELA-AU 13 70471957 70471957 single base substitution A C intron_variant MELA-AU 13 70472015 70472015 single base substitution C T intron_variant MELA-AU 13 70472109 70472109 single base substitution C T intron_variant MELA-AU 13 70472153 70472153 single base substitution C T intron_variant MELA-AU 13 70472296 70472296 single base substitution C T intron_variant MELA-AU 13 70472328 70472328 single base substitution G A intron_variant MELA-AU 13 70472351 70472351 single base substitution A T intron_variant MELA-AU 13 70472369 70472369 single base substitution C T intron_variant MELA-AU 13 70472605 70472605 single base substitution G A intron_variant MELA-AU 13 70472638 70472638 single base substitution G A intron_variant MELA-AU 13 70472692 70472692 single base substitution C T intron_variant MELA-AU 13 70472727 70472727 single base substitution C T intron_variant MELA-AU 13 70472734 70472734 single base substitution G A intron_variant MELA-AU 13 70472778 70472778 single base substitution T A intron_variant MELA-AU 13 70472804 70472804 single base substitution G A intron_variant MELA-AU 13 70473082 70473082 single base substitution G A intron_variant MELA-AU 13 70473243 70473243 single base substitution G A intron_variant MELA-AU 13 70473402 70473402 single base substitution G A intron_variant MELA-AU 13 70473406 70473406 single base substitution C T intron_variant MELA-AU 13 70473477 70473477 single base substitution G A intron_variant MELA-AU 13 70473643 70473643 single base substitution C T intron_variant MELA-AU 13 70473706 70473707 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 70473727 70473727 single base substitution G T intron_variant MELA-AU 13 70473838 70473838 single base substitution G A intron_variant MELA-AU 13 70474165 70474165 single base substitution C T intron_variant MELA-AU 13 70474268 70474268 single base substitution G A intron_variant MELA-AU 13 70474303 70474303 single base substitution G A intron_variant MELA-AU 13 70474303 70474303 single base substitution G T intron_variant MELA-AU 13 70474354 70474354 single base substitution C T intron_variant MELA-AU 13 70474359 70474359 single base substitution G A intron_variant MELA-AU 13 70474419 70474419 single base substitution C T intron_variant MELA-AU 13 70474672 70474672 single base substitution G A intron_variant MELA-AU 13 70474704 70474704 single base substitution G A intron_variant MELA-AU 13 70474711 70474711 single base substitution G A intron_variant MELA-AU 13 70474739 70474739 single base substitution T G intron_variant MELA-AU 13 70474838 70474838 single base substitution C T intron_variant MELA-AU 13 70474850 70474850 single base substitution G A intron_variant MELA-AU 13 70474932 70474932 single base substitution C T intron_variant MELA-AU 13 70474986 70474986 single base substitution T A intron_variant MELA-AU 13 70475027 70475027 single base substitution C T intron_variant MELA-AU 13 70475047 70475047 single base substitution C T intron_variant MELA-AU 13 70475103 70475103 single base substitution C T intron_variant MELA-AU 13 70475203 70475203 single base substitution G A intron_variant MELA-AU 13 70475299 70475299 single base substitution G A intron_variant MELA-AU 13 70475450 70475450 single base substitution G A intron_variant MELA-AU 13 70475715 70475715 single base substitution C T intron_variant MELA-AU 13 70475768 70475768 single base substitution G A intron_variant MELA-AU 13 70475969 70475969 single base substitution G T intron_variant MELA-AU 13 70476324 70476324 single base substitution C T intron_variant MELA-AU 13 70476419 70476419 single base substitution A C intron_variant MELA-AU 13 70476463 70476463 single base substitution G A intron_variant MELA-AU 13 70476523 70476523 single base substitution A G intron_variant MELA-AU 13 70476671 70476671 single base substitution A T intron_variant MELA-AU 13 70476739 70476739 single base substitution G A intron_variant MELA-AU 13 70476908 70476908 single base substitution G A intron_variant MELA-AU 13 70477107 70477107 single base substitution G A intron_variant MELA-AU 13 70477513 70477513 single base substitution C T intron_variant MELA-AU 13 70477599 70477599 single base substitution C A intron_variant MELA-AU 13 70477631 70477631 single base substitution C T intron_variant MELA-AU 13 70477710 70477710 single base substitution G A intron_variant MELA-AU 13 70477864 70477864 single base substitution C T intron_variant MELA-AU 13 70477877 70477877 single base substitution G A intron_variant MELA-AU 13 70477966 70477966 single base substitution G A intron_variant MELA-AU 13 70478219 70478219 single base substitution C T intron_variant MELA-AU 13 70478250 70478250 single base substitution A G intron_variant MELA-AU 13 70478263 70478263 single base substitution G A intron_variant MELA-AU 13 70478351 70478351 single base substitution G A intron_variant MELA-AU 13 70478435 70478435 single base substitution T A intron_variant MELA-AU 13 70478518 70478518 single base substitution C T intron_variant MELA-AU 13 70478608 70478610 deletion of <=200bp TAA - intron_variant MELA-AU 13 70478739 70478739 single base substitution C T intron_variant MELA-AU 13 70478856 70478856 single base substitution A C intron_variant MELA-AU 13 70478891 70478891 single base substitution C T intron_variant MELA-AU 13 70479099 70479099 single base substitution C T intron_variant MELA-AU 13 70479117 70479117 single base substitution C T intron_variant MELA-AU 13 70479436 70479436 single base substitution C T intron_variant MELA-AU 13 70479510 70479510 single base substitution C T intron_variant MELA-AU 13 70479582 70479582 single base substitution G A intron_variant MELA-AU 13 70479990 70479990 single base substitution G A intron_variant MELA-AU 13 70480019 70480019 single base substitution G A intron_variant MELA-AU 13 70480216 70480216 single base substitution T A intron_variant MELA-AU 13 70480218 70480218 single base substitution C T intron_variant MELA-AU 13 70480248 70480248 single base substitution C T intron_variant MELA-AU 13 70480488 70480488 single base substitution G A intron_variant MELA-AU 13 70480495 70480495 single base substitution C T intron_variant MELA-AU 13 70480578 70480578 single base substitution G A intron_variant MELA-AU 13 70480690 70480691 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 70480737 70480737 single base substitution T C intron_variant MELA-AU 13 70480835 70480835 single base substitution G A intron_variant MELA-AU 13 70480857 70480857 single base substitution T A intron_variant MELA-AU 13 70480869 70480869 single base substitution C T intron_variant MELA-AU 13 70480874 70480874 single base substitution C T intron_variant MELA-AU 13 70480894 70480894 single base substitution C T intron_variant MELA-AU 13 70481156 70481156 single base substitution C T intron_variant MELA-AU 13 70481211 70481211 single base substitution C T intron_variant MELA-AU 13 70481225 70481225 single base substitution C T intron_variant MELA-AU 13 70481232 70481232 single base substitution C T intron_variant MELA-AU 13 70481655 70481655 single base substitution C T intron_variant MELA-AU 13 70481784 70481784 single base substitution G A intron_variant MELA-AU 13 70482020 70482020 single base substitution T A intron_variant MELA-AU 13 70482021 70482021 single base substitution C T intron_variant MELA-AU 13 70482438 70482438 single base substitution G A intron_variant MELA-AU 13 70482555 70482555 single base substitution T G intron_variant MELA-AU 13 70482679 70482679 single base substitution A T intron_variant MELA-AU 13 70482767 70482767 single base substitution C T intron_variant MELA-AU 13 70482919 70482919 single base substitution C A intron_variant MELA-AU 13 70482937 70482937 single base substitution C T intron_variant MELA-AU 13 70483014 70483014 single base substitution C T intron_variant MELA-AU 13 70483113 70483113 single base substitution A T intron_variant MELA-AU 13 70483132 70483132 single base substitution C T intron_variant MELA-AU 13 70483255 70483255 single base substitution C T intron_variant MELA-AU 13 70483364 70483364 single base substitution G A intron_variant MELA-AU 13 70483637 70483637 single base substitution C T intron_variant MELA-AU 13 70483770 70483770 single base substitution C T intron_variant MELA-AU 13 70483979 70483979 single base substitution T G intron_variant MELA-AU 13 70483995 70483995 single base substitution C T intron_variant MELA-AU 13 70484165 70484165 single base substitution C T intron_variant MELA-AU 13 70484367 70484367 single base substitution G A intron_variant MELA-AU 13 70484397 70484397 single base substitution T C intron_variant MELA-AU 13 70484677 70484677 single base substitution A G intron_variant MELA-AU 13 70484834 70484834 single base substitution T C intron_variant MELA-AU 13 70484972 70484972 single base substitution C T intron_variant MELA-AU 13 70485164 70485164 single base substitution C T intron_variant MELA-AU 13 70485381 70485381 single base substitution G A intron_variant MELA-AU 13 70485432 70485432 single base substitution G A intron_variant MELA-AU 13 70486277 70486277 single base substitution C T intron_variant MELA-AU 13 70486474 70486474 single base substitution G A intron_variant MELA-AU 13 70486722 70486722 single base substitution C T intron_variant MELA-AU 13 70486736 70486736 single base substitution C T intron_variant MELA-AU 13 70486818 70486818 single base substitution C T intron_variant MELA-AU 13 70486881 70486881 single base substitution C T intron_variant MELA-AU 13 70486893 70486893 single base substitution C T intron_variant MELA-AU 13 70486916 70486916 single base substitution C T intron_variant MELA-AU 13 70486941 70486941 single base substitution C T intron_variant MELA-AU 13 70486944 70486944 single base substitution G A intron_variant MELA-AU 13 70487004 70487004 single base substitution C T intron_variant MELA-AU 13 70487036 70487036 single base substitution C T intron_variant MELA-AU 13 70487039 70487039 single base substitution C T intron_variant MELA-AU 13 70487047 70487047 single base substitution G A intron_variant MELA-AU 13 70487174 70487174 single base substitution C T intron_variant MELA-AU 13 70487264 70487264 single base substitution C T intron_variant MELA-AU 13 70487288 70487288 single base substitution C T intron_variant MELA-AU 13 70487319 70487319 single base substitution C T intron_variant MELA-AU 13 70487380 70487380 single base substitution G A intron_variant MELA-AU 13 70487400 70487400 single base substitution G A intron_variant MELA-AU 13 70487448 70487448 single base substitution C T intron_variant MELA-AU 13 70487552 70487552 single base substitution G A intron_variant MELA-AU 13 70487580 70487580 single base substitution G A intron_variant MELA-AU 13 70487612 70487612 single base substitution G A intron_variant MELA-AU 13 70487648 70487648 single base substitution C T intron_variant MELA-AU 13 70487652 70487652 single base substitution C T intron_variant MELA-AU 13 70487691 70487691 single base substitution C T intron_variant MELA-AU 13 70487718 70487718 single base substitution C T intron_variant MELA-AU 13 70487728 70487728 single base substitution G A intron_variant MELA-AU 13 70487729 70487729 single base substitution G A intron_variant MELA-AU 13 70487879 70487879 single base substitution T A intron_variant MELA-AU 13 70487943 70487943 single base substitution G A intron_variant MELA-AU 13 70488023 70488024 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 70488153 70488153 single base substitution T C intron_variant MELA-AU 13 70488174 70488174 single base substitution C T intron_variant MELA-AU 13 70488204 70488204 single base substitution C T intron_variant MELA-AU 13 70488205 70488205 single base substitution G A intron_variant MELA-AU 13 70488235 70488236 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 70488283 70488283 single base substitution G A intron_variant MELA-AU 13 70488512 70488512 single base substitution C T intron_variant MELA-AU 13 70488591 70488591 single base substitution G A intron_variant MELA-AU 13 70488598 70488598 single base substitution C T intron_variant MELA-AU 13 70488609 70488609 single base substitution T C intron_variant MELA-AU 13 70488689 70488689 single base substitution C T intron_variant MELA-AU 13 70488887 70488887 single base substitution G A intron_variant MELA-AU 13 70488903 70488903 single base substitution C T intron_variant MELA-AU 13 70489225 70489225 single base substitution G A intron_variant MELA-AU 13 70489250 70489250 single base substitution C T intron_variant MELA-AU 13 70489384 70489384 single base substitution C T intron_variant MELA-AU 13 70489397 70489397 single base substitution A G intron_variant MELA-AU 13 70489540 70489540 single base substitution G A intron_variant MELA-AU 13 70489633 70489633 single base substitution C T intron_variant MELA-AU 13 70489653 70489653 single base substitution G A intron_variant MELA-AU 13 70490071 70490071 single base substitution G A intron_variant MELA-AU 13 70490688 70490688 single base substitution G A intron_variant MELA-AU 13 70490854 70490854 single base substitution C T intron_variant MELA-AU 13 70491027 70491027 single base substitution T A intron_variant MELA-AU 13 70491113 70491113 single base substitution A T intron_variant MELA-AU 13 70491193 70491193 single base substitution G A intron_variant MELA-AU 13 70491350 70491350 single base substitution C T intron_variant MELA-AU 13 70491394 70491394 single base substitution G A intron_variant MELA-AU 13 70491420 70491420 single base substitution C T intron_variant MELA-AU 13 70491585 70491585 single base substitution C T intron_variant MELA-AU 13 70491587 70491587 single base substitution C T intron_variant MELA-AU 13 70491633 70491633 single base substitution C T intron_variant MELA-AU 13 70491661 70491661 single base substitution C T intron_variant MELA-AU 13 70491668 70491668 single base substitution G A intron_variant MELA-AU 13 70491697 70491697 single base substitution G A intron_variant MELA-AU 13 70491899 70491899 single base substitution G A intron_variant MELA-AU 13 70492232 70492232 single base substitution T A intron_variant MELA-AU 13 70492266 70492266 single base substitution G T intron_variant MELA-AU 13 70492293 70492293 single base substitution C T intron_variant MELA-AU 13 70492323 70492323 single base substitution C T intron_variant MELA-AU 13 70492517 70492517 single base substitution C T intron_variant MELA-AU 13 70492870 70492870 single base substitution C T intron_variant MELA-AU 13 70492916 70492916 single base substitution G A intron_variant MELA-AU 13 70493130 70493130 single base substitution C T intron_variant MELA-AU 13 70493270 70493270 single base substitution T C intron_variant MELA-AU 13 70493375 70493375 single base substitution C T intron_variant MELA-AU 13 70493391 70493391 single base substitution C T intron_variant MELA-AU 13 70493525 70493525 single base substitution C T intron_variant MELA-AU 13 70493529 70493529 single base substitution T A intron_variant MELA-AU 13 70493758 70493758 single base substitution G A intron_variant MELA-AU 13 70493759 70493759 single base substitution G A intron_variant MELA-AU 13 70493992 70493992 single base substitution C T intron_variant MELA-AU 13 70494325 70494325 single base substitution G A intron_variant MELA-AU 13 70494405 70494405 single base substitution G T intron_variant MELA-AU 13 70494456 70494456 single base substitution G A intron_variant MELA-AU 13 70494503 70494503 single base substitution C T intron_variant MELA-AU 13 70494560 70494560 single base substitution G A intron_variant MELA-AU 13 70494586 70494586 single base substitution G A intron_variant MELA-AU 13 70494650 70494650 single base substitution C T intron_variant MELA-AU 13 70494669 70494669 single base substitution A G intron_variant MELA-AU 13 70494879 70494880 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 70494954 70494954 single base substitution A T intron_variant MELA-AU 13 70494959 70494959 single base substitution C T intron_variant MELA-AU 13 70495092 70495092 single base substitution G A intron_variant MELA-AU 13 70495473 70495473 single base substitution G A intron_variant MELA-AU 13 70495630 70495630 single base substitution C T intron_variant MELA-AU 13 70495720 70495720 single base substitution C T intron_variant MELA-AU 13 70495761 70495761 single base substitution G A intron_variant MELA-AU 13 70495824 70495824 single base substitution C T intron_variant MELA-AU 13 70496026 70496026 single base substitution G A intron_variant MELA-AU 13 70496249 70496249 single base substitution C T intron_variant MELA-AU 13 70496381 70496381 single base substitution G A intron_variant MELA-AU 13 70496398 70496398 single base substitution T C intron_variant MELA-AU 13 70496494 70496494 single base substitution G A intron_variant MELA-AU 13 70496553 70496553 single base substitution T C intron_variant MELA-AU 13 70496706 70496706 single base substitution A G intron_variant MELA-AU 13 70496734 70496734 single base substitution C T intron_variant MELA-AU 13 70496875 70496875 single base substitution C T intron_variant MELA-AU 13 70496902 70496902 single base substitution C T intron_variant MELA-AU 13 70497070 70497070 single base substitution G A intron_variant MELA-AU 13 70497211 70497211 single base substitution C T intron_variant MELA-AU 13 70497235 70497235 single base substitution T G intron_variant MELA-AU 13 70497243 70497243 single base substitution G A intron_variant MELA-AU 13 70497385 70497385 single base substitution G A intron_variant MELA-AU 13 70497394 70497394 single base substitution A C intron_variant MELA-AU 13 70497504 70497504 single base substitution C T intron_variant MELA-AU 13 70497547 70497547 single base substitution G A intron_variant MELA-AU 13 70497558 70497558 single base substitution C T intron_variant MELA-AU 13 70497579 70497580 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 70497580 70497580 single base substitution G A intron_variant MELA-AU 13 70497624 70497624 single base substitution A G intron_variant MELA-AU 13 70497863 70497863 single base substitution G A intron_variant MELA-AU 13 70497914 70497914 single base substitution G A intron_variant MELA-AU 13 70498025 70498025 single base substitution C T intron_variant MELA-AU 13 70498103 70498103 single base substitution C T intron_variant MELA-AU 13 70498123 70498123 single base substitution G T intron_variant MELA-AU 13 70498218 70498218 single base substitution G A intron_variant MELA-AU 13 70498242 70498242 single base substitution G A intron_variant MELA-AU 13 70498357 70498357 single base substitution G A intron_variant MELA-AU 13 70498382 70498382 single base substitution C T intron_variant MELA-AU 13 70498507 70498507 single base substitution C T intron_variant MELA-AU 13 70498547 70498547 single base substitution C T intron_variant MELA-AU 13 70498560 70498560 single base substitution G A intron_variant MELA-AU 13 70498747 70498747 single base substitution C T intron_variant MELA-AU 13 70498882 70498882 single base substitution G A intron_variant MELA-AU 13 70499039 70499039 single base substitution G A intron_variant MELA-AU 13 70499291 70499291 single base substitution A G intron_variant MELA-AU 13 70499306 70499306 single base substitution C T intron_variant MELA-AU 13 70499352 70499352 single base substitution C T intron_variant MELA-AU 13 70499439 70499439 single base substitution G A intron_variant MELA-AU 13 70499462 70499462 single base substitution G A intron_variant MELA-AU 13 70499785 70499785 single base substitution G A intron_variant MELA-AU 13 70499884 70499884 single base substitution T G intron_variant MELA-AU 13 70499914 70499914 single base substitution T C intron_variant MELA-AU 13 70499940 70499940 single base substitution C T intron_variant MELA-AU 13 70499982 70499982 single base substitution C T intron_variant MELA-AU 13 70500033 70500033 single base substitution G A intron_variant MELA-AU 13 70500139 70500139 single base substitution G A intron_variant MELA-AU 13 70500203 70500203 single base substitution C T intron_variant MELA-AU 13 70500534 70500534 single base substitution A T intron_variant MELA-AU 13 70500541 70500541 single base substitution C T intron_variant MELA-AU 13 70500591 70500591 single base substitution C T intron_variant MELA-AU 13 70500741 70500741 single base substitution G A intron_variant MELA-AU 13 70500776 70500776 single base substitution G A intron_variant MELA-AU 13 70500839 70500839 single base substitution G A intron_variant MELA-AU 13 70500875 70500875 single base substitution G A intron_variant MELA-AU 13 70500963 70500963 single base substitution C T intron_variant MELA-AU 13 70501336 70501336 single base substitution G A intron_variant MELA-AU 13 70501524 70501524 single base substitution A T intron_variant MELA-AU 13 70501547 70501547 single base substitution G A intron_variant MELA-AU 13 70501796 70501796 single base substitution C T intron_variant MELA-AU 13 70501882 70501882 single base substitution A T intron_variant MELA-AU 13 70501903 70501903 single base substitution T C intron_variant MELA-AU 13 70501970 70501970 single base substitution C T intron_variant MELA-AU 13 70502073 70502073 single base substitution C T intron_variant MELA-AU 13 70502093 70502093 single base substitution C T intron_variant MELA-AU 13 70502114 70502114 single base substitution G A intron_variant MELA-AU 13 70502119 70502119 single base substitution G A intron_variant MELA-AU 13 70502163 70502163 single base substitution C T intron_variant MELA-AU 13 70502177 70502177 single base substitution G A intron_variant MELA-AU 13 70502252 70502252 single base substitution C T intron_variant MELA-AU 13 70502269 70502269 single base substitution A G intron_variant MELA-AU 13 70502429 70502429 single base substitution C T intron_variant MELA-AU 13 70502500 70502500 single base substitution C T intron_variant MELA-AU 13 70502583 70502583 single base substitution G T intron_variant MELA-AU 13 70503057 70503057 single base substitution G A intron_variant MELA-AU 13 70503416 70503416 single base substitution G A intron_variant MELA-AU 13 70503762 70503762 single base substitution C T intron_variant MELA-AU 13 70504003 70504003 single base substitution G A intron_variant MELA-AU 13 70504056 70504056 single base substitution A G intron_variant MELA-AU 13 70504226 70504226 single base substitution C T intron_variant MELA-AU 13 70504343 70504343 single base substitution A T intron_variant MELA-AU 13 70504410 70504410 single base substitution G A intron_variant MELA-AU 13 70504608 70504608 single base substitution C T intron_variant MELA-AU 13 70504627 70504627 single base substitution C T intron_variant MELA-AU 13 70504723 70504723 single base substitution C T intron_variant MELA-AU 13 70505272 70505272 single base substitution C T intron_variant MELA-AU 13 70505299 70505299 single base substitution C T intron_variant MELA-AU 13 70505714 70505714 single base substitution A C intron_variant MELA-AU 13 70505862 70505862 single base substitution A G intron_variant MELA-AU 13 70505902 70505902 single base substitution C T intron_variant MELA-AU 13 70505948 70505948 single base substitution G A intron_variant MELA-AU 13 70505986 70505986 single base substitution G A intron_variant MELA-AU 13 70506110 70506110 single base substitution G A intron_variant MELA-AU 13 70506163 70506163 single base substitution G A intron_variant MELA-AU 13 70506179 70506179 single base substitution T A intron_variant MELA-AU 13 70506182 70506182 single base substitution C T intron_variant MELA-AU 13 70506438 70506445 deletion of <=200bp TTTTTTTC - intron_variant MELA-AU 13 70506493 70506493 single base substitution T A intron_variant MELA-AU 13 70506507 70506507 single base substitution G A intron_variant MELA-AU 13 70506517 70506517 single base substitution G A intron_variant MELA-AU 13 70507049 70507049 single base substitution T A intron_variant MELA-AU 13 70507050 70507050 single base substitution T C intron_variant MELA-AU 13 70507098 70507098 single base substitution G A intron_variant MELA-AU 13 70507170 70507170 single base substitution C T intron_variant MELA-AU 13 70507185 70507185 single base substitution T A intron_variant MELA-AU 13 70507258 70507258 single base substitution C T intron_variant MELA-AU 13 70507392 70507392 single base substitution G A intron_variant MELA-AU 13 70507414 70507414 single base substitution C T intron_variant MELA-AU 13 70507634 70507634 single base substitution C T intron_variant MELA-AU 13 70507679 70507679 single base substitution C T intron_variant MELA-AU 13 70507721 70507721 single base substitution T A intron_variant MELA-AU 13 70508048 70508048 single base substitution C T intron_variant MELA-AU 13 70508110 70508110 single base substitution G A intron_variant MELA-AU 13 70508284 70508284 single base substitution G A intron_variant MELA-AU 13 70508392 70508392 single base substitution G A intron_variant MELA-AU 13 70508419 70508419 single base substitution C T intron_variant MELA-AU 13 70508483 70508483 single base substitution C T intron_variant MELA-AU 13 70508495 70508495 single base substitution C T intron_variant MELA-AU 13 70508545 70508545 single base substitution T A intron_variant MELA-AU 13 70508584 70508584 single base substitution C T intron_variant MELA-AU 13 70508651 70508651 single base substitution C T intron_variant MELA-AU 13 70508664 70508664 single base substitution C T intron_variant MELA-AU 13 70508665 70508665 single base substitution C A intron_variant MELA-AU 13 70508734 70508734 single base substitution G A intron_variant MELA-AU 13 70509040 70509040 single base substitution C G intron_variant MELA-AU 13 70509337 70509339 multiple base substitution (>=2bp and <=200bp) GGT CCC intron_variant MELA-AU 13 70509395 70509395 single base substitution T C intron_variant MELA-AU 13 70509574 70509574 single base substitution A C intron_variant MELA-AU 13 70509594 70509594 single base substitution G A intron_variant MELA-AU 13 70509851 70509851 single base substitution C T intron_variant MELA-AU 13 70509878 70509878 single base substitution G A intron_variant MELA-AU 13 70510143 70510143 single base substitution G A intron_variant MELA-AU 13 70510253 70510253 single base substitution G A intron_variant MELA-AU 13 70510285 70510285 single base substitution C T intron_variant MELA-AU 13 70510670 70510670 single base substitution G A intron_variant MELA-AU 13 70510836 70510836 single base substitution G A intron_variant MELA-AU 13 70510868 70510868 single base substitution C T intron_variant MELA-AU 13 70510889 70510889 single base substitution C T intron_variant MELA-AU 13 70510893 70510893 single base substitution G A intron_variant MELA-AU 13 70511220 70511221 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 70511295 70511295 single base substitution G A intron_variant MELA-AU 13 70511456 70511456 single base substitution C T intron_variant MELA-AU 13 70511471 70511471 single base substitution C T intron_variant MELA-AU 13 70511601 70511601 single base substitution C T intron_variant MELA-AU 13 70511638 70511638 single base substitution C T intron_variant MELA-AU 13 70511658 70511658 single base substitution C T intron_variant MELA-AU 13 70511861 70511861 single base substitution C T intron_variant MELA-AU 13 70512055 70512055 single base substitution C T intron_variant MELA-AU 13 70512161 70512161 single base substitution A G intron_variant MELA-AU 13 70512320 70512320 single base substitution G A intron_variant MELA-AU 13 70512489 70512489 single base substitution C T intron_variant MELA-AU 13 70512597 70512597 single base substitution G A intron_variant MELA-AU 13 70512606 70512606 single base substitution C A intron_variant MELA-AU 13 70512630 70512630 single base substitution G A intron_variant MELA-AU 13 70512678 70512678 single base substitution G A intron_variant MELA-AU 13 70512965 70512965 single base substitution G A intron_variant MELA-AU 13 70512976 70512976 single base substitution G A intron_variant MELA-AU 13 70512982 70512982 single base substitution G A intron_variant MELA-AU 13 70513070 70513070 single base substitution T A intron_variant MELA-AU 13 70513132 70513132 single base substitution T C intron_variant MELA-AU 13 70513147 70513147 single base substitution C T intron_variant MELA-AU 13 70513222 70513222 single base substitution A T intron_variant MELA-AU 13 70513577 70513577 single base substitution C T intron_variant MELA-AU 13 70513586 70513586 single base substitution C T intron_variant MELA-AU 13 70513829 70513829 single base substitution G A intron_variant MELA-AU 13 70513883 70513883 single base substitution C T intron_variant MELA-AU 13 70513907 70513907 single base substitution C T intron_variant MELA-AU 13 70513926 70513926 single base substitution G A intron_variant MELA-AU 13 70514488 70514488 single base substitution C T intron_variant MELA-AU 13 70514625 70514625 single base substitution G A intron_variant MELA-AU 13 70514654 70514654 single base substitution G A intron_variant MELA-AU 13 70515055 70515055 single base substitution G A intron_variant MELA-AU 13 70515099 70515099 single base substitution T C intron_variant MELA-AU 13 70515116 70515116 single base substitution C T intron_variant MELA-AU 13 70515304 70515304 single base substitution C T intron_variant MELA-AU 13 70515427 70515427 single base substitution G A intron_variant MELA-AU 13 70515478 70515478 single base substitution G A intron_variant MELA-AU 13 70515525 70515525 single base substitution G A intron_variant MELA-AU 13 70515605 70515605 single base substitution G A intron_variant MELA-AU 13 70515624 70515624 single base substitution C G intron_variant MELA-AU 13 70515638 70515639 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 70515640 70515640 single base substitution G A intron_variant MELA-AU 13 70515679 70515679 single base substitution G A intron_variant MELA-AU 13 70515867 70515867 single base substitution G A intron_variant MELA-AU 13 70516012 70516012 single base substitution C T intron_variant MELA-AU 13 70516105 70516105 single base substitution C T intron_variant MELA-AU 13 70516127 70516127 single base substitution G A intron_variant MELA-AU 13 70516199 70516199 single base substitution G A intron_variant MELA-AU 13 70516464 70516464 single base substitution G A intron_variant MELA-AU 13 70516950 70516950 single base substitution G A intron_variant MELA-AU 13 70516967 70516967 single base substitution T G intron_variant MELA-AU 13 70516982 70516982 single base substitution C T intron_variant MELA-AU 13 70516984 70516984 single base substitution C A intron_variant MELA-AU 13 70516994 70516994 single base substitution A G intron_variant MELA-AU 13 70517021 70517021 single base substitution T A intron_variant MELA-AU 13 70517086 70517086 single base substitution C T intron_variant MELA-AU 13 70517090 70517090 single base substitution T C intron_variant MELA-AU 13 70517105 70517105 single base substitution C T intron_variant MELA-AU 13 70517140 70517140 single base substitution G A intron_variant MELA-AU 13 70517171 70517171 single base substitution C T intron_variant MELA-AU 13 70517224 70517224 single base substitution T A intron_variant MELA-AU 13 70517251 70517251 single base substitution G C intron_variant MELA-AU 13 70517541 70517541 single base substitution C T intron_variant MELA-AU 13 70517550 70517550 single base substitution G A intron_variant MELA-AU 13 70517735 70517735 single base substitution C T intron_variant MELA-AU 13 70517889 70517889 single base substitution C T intron_variant MELA-AU 13 70517972 70517972 single base substitution C A intron_variant MELA-AU 13 70517985 70517985 single base substitution C A intron_variant MELA-AU 13 70518104 70518104 single base substitution T G intron_variant MELA-AU 13 70518120 70518120 single base substitution A G intron_variant MELA-AU 13 70518176 70518176 single base substitution G A intron_variant MELA-AU 13 70518458 70518458 deletion of <=200bp T - intron_variant MELA-AU 13 70518474 70518474 single base substitution G A intron_variant MELA-AU 13 70518764 70518764 single base substitution C T intron_variant MELA-AU 13 70518769 70518769 single base substitution C T intron_variant MELA-AU 13 70518857 70518857 single base substitution C T intron_variant MELA-AU 13 70518953 70518953 single base substitution T C intron_variant MELA-AU 13 70519120 70519120 single base substitution T G intron_variant MELA-AU 13 70519166 70519166 single base substitution G A intron_variant MELA-AU 13 70519225 70519225 single base substitution C T intron_variant MELA-AU 13 70519310 70519310 single base substitution G A intron_variant MELA-AU 13 70519540 70519540 single base substitution C T intron_variant MELA-AU 13 70519631 70519631 single base substitution G C intron_variant MELA-AU 13 70519717 70519717 single base substitution C T intron_variant MELA-AU 13 70519741 70519741 single base substitution G A intron_variant MELA-AU 13 70519899 70519899 single base substitution A T intron_variant MELA-AU 13 70520003 70520003 single base substitution G A intron_variant MELA-AU 13 70520124 70520124 single base substitution A T intron_variant MELA-AU 13 70520259 70520259 single base substitution C T intron_variant MELA-AU 13 70520347 70520347 single base substitution G A intron_variant MELA-AU 13 70520489 70520489 single base substitution G A intron_variant MELA-AU 13 70520598 70520598 single base substitution G A intron_variant MELA-AU 13 70520638 70520638 single base substitution C T intron_variant MELA-AU 13 70520647 70520647 single base substitution C T intron_variant MELA-AU 13 70520658 70520658 single base substitution T C intron_variant MELA-AU 13 70520708 70520708 single base substitution G A intron_variant MELA-AU 13 70520736 70520736 single base substitution C T intron_variant MELA-AU 13 70520902 70520902 single base substitution C T intron_variant MELA-AU 13 70520915 70520915 single base substitution G A intron_variant MELA-AU 13 70520935 70520935 single base substitution C T intron_variant MELA-AU 13 70521063 70521063 single base substitution G A intron_variant MELA-AU 13 70521224 70521224 single base substitution C T intron_variant MELA-AU 13 70521225 70521225 single base substitution C T intron_variant MELA-AU 13 70521401 70521401 single base substitution G T intron_variant MELA-AU 13 70521441 70521441 single base substitution G A intron_variant MELA-AU 13 70521512 70521512 single base substitution C T intron_variant MELA-AU 13 70521587 70521587 single base substitution C T intron_variant MELA-AU 13 70521941 70521941 single base substitution C T intron_variant MELA-AU 13 70522023 70522023 single base substitution G A intron_variant MELA-AU 13 70522097 70522097 single base substitution A C intron_variant MELA-AU 13 70522319 70522319 single base substitution G A intron_variant MELA-AU 13 70522551 70522551 single base substitution G A intron_variant MELA-AU 13 70522812 70522812 single base substitution G A intron_variant MELA-AU 13 70523153 70523153 single base substitution G A intron_variant MELA-AU 13 70523315 70523315 single base substitution C T intron_variant MELA-AU 13 70523719 70523719 single base substitution C T intron_variant MELA-AU 13 70523745 70523745 single base substitution G A intron_variant MELA-AU 13 70523886 70523886 single base substitution G T intron_variant MELA-AU 13 70524014 70524014 single base substitution C T intron_variant MELA-AU 13 70524036 70524036 single base substitution T A intron_variant MELA-AU 13 70524064 70524064 single base substitution C T intron_variant MELA-AU 13 70524162 70524162 single base substitution G A intron_variant MELA-AU 13 70524223 70524223 single base substitution T C intron_variant MELA-AU 13 70524285 70524285 single base substitution G A intron_variant MELA-AU 13 70524328 70524328 single base substitution C T intron_variant MELA-AU 13 70524374 70524374 single base substitution T G intron_variant MELA-AU 13 70524379 70524379 single base substitution G A intron_variant MELA-AU 13 70524788 70524788 single base substitution T G intron_variant MELA-AU 13 70524880 70524880 single base substitution C T intron_variant MELA-AU 13 70524947 70524947 single base substitution A G intron_variant MELA-AU 13 70525052 70525052 single base substitution G A intron_variant MELA-AU 13 70525350 70525350 single base substitution C T intron_variant MELA-AU 13 70525454 70525454 single base substitution T C intron_variant MELA-AU 13 70525541 70525541 single base substitution C T intron_variant MELA-AU 13 70525554 70525554 single base substitution G A intron_variant MELA-AU 13 70525602 70525602 single base substitution C T intron_variant MELA-AU 13 70525832 70525832 single base substitution C T intron_variant MELA-AU 13 70525853 70525853 single base substitution C T intron_variant MELA-AU 13 70525968 70525968 single base substitution C T intron_variant MELA-AU 13 70525977 70525977 single base substitution A G intron_variant MELA-AU 13 70526093 70526093 single base substitution C T intron_variant MELA-AU 13 70526208 70526208 single base substitution G A intron_variant MELA-AU 13 70526377 70526377 single base substitution G A intron_variant MELA-AU 13 70526567 70526567 single base substitution C T intron_variant MELA-AU 13 70526608 70526608 single base substitution G A intron_variant MELA-AU 13 70526760 70526760 single base substitution C T intron_variant MELA-AU 13 70526810 70526810 single base substitution C T intron_variant MELA-AU 13 70526834 70526834 single base substitution C T intron_variant MELA-AU 13 70526928 70526928 single base substitution C T intron_variant MELA-AU 13 70526943 70526943 single base substitution A G intron_variant MELA-AU 13 70527016 70527016 single base substitution C T intron_variant MELA-AU 13 70527178 70527178 single base substitution G A intron_variant MELA-AU 13 70527305 70527305 single base substitution G A intron_variant MELA-AU 13 70527573 70527573 single base substitution G A intron_variant MELA-AU 13 70527725 70527725 single base substitution G A intron_variant MELA-AU 13 70527725 70527726 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 70527922 70527957 deletion of <=200bp ATAAGCAAAGTGAATATCCTCTCCCAGTTCTCAGAT - intron_variant MELA-AU 13 70527942 70527942 single base substitution C T intron_variant MELA-AU 13 70528228 70528228 single base substitution C A intron_variant MELA-AU 13 70528252 70528252 single base substitution A T intron_variant MELA-AU 13 70528535 70528535 single base substitution G A intron_variant MELA-AU 13 70528589 70528589 single base substitution A T intron_variant MELA-AU 13 70528781 70528781 single base substitution C A intron_variant MELA-AU 13 70528898 70528898 single base substitution C T intron_variant MELA-AU 13 70528910 70528910 single base substitution C T intron_variant MELA-AU 13 70529144 70529144 single base substitution A T intron_variant MELA-AU 13 70529254 70529254 single base substitution T A intron_variant MELA-AU 13 70529615 70529615 single base substitution C T intron_variant MELA-AU 13 70529683 70529683 single base substitution C T intron_variant MELA-AU 13 70529789 70529789 single base substitution G A intron_variant MELA-AU 13 70529872 70529872 single base substitution C T intron_variant MELA-AU 13 70530316 70530316 single base substitution G A intron_variant MELA-AU 13 70530774 70530774 single base substitution C T intron_variant MELA-AU 13 70530887 70530887 single base substitution T C intron_variant MELA-AU 13 70531240 70531240 single base substitution G A intron_variant MELA-AU 13 70531284 70531284 single base substitution G A intron_variant MELA-AU 13 70531388 70531388 single base substitution G A intron_variant MELA-AU 13 70531546 70531546 single base substitution G T intron_variant MELA-AU 13 70531691 70531691 single base substitution T A intron_variant MELA-AU 13 70531775 70531775 single base substitution G A intron_variant MELA-AU 13 70531898 70531898 single base substitution G A intron_variant MELA-AU 13 70532182 70532182 single base substitution C T intron_variant MELA-AU 13 70532474 70532474 single base substitution G A intron_variant MELA-AU 13 70532521 70532521 single base substitution C T intron_variant MELA-AU 13 70532582 70532582 single base substitution G A intron_variant MELA-AU 13 70532634 70532634 single base substitution C T intron_variant MELA-AU 13 70532723 70532723 single base substitution T C intron_variant MELA-AU 13 70532801 70532801 single base substitution T C intron_variant MELA-AU 13 70532836 70532836 single base substitution C T intron_variant MELA-AU 13 70532862 70532862 single base substitution C T intron_variant MELA-AU 13 70533492 70533492 single base substitution C T intron_variant MELA-AU 13 70533802 70533802 single base substitution C T intron_variant MELA-AU 13 70533830 70533830 single base substitution G A intron_variant MELA-AU 13 70533870 70533870 single base substitution G A intron_variant MELA-AU 13 70533877 70533877 single base substitution G A intron_variant MELA-AU 13 70533895 70533895 single base substitution A G intron_variant MELA-AU 13 70533932 70533932 single base substitution C T intron_variant MELA-AU 13 70534028 70534028 single base substitution A T intron_variant MELA-AU 13 70534136 70534136 single base substitution G A intron_variant MELA-AU 13 70534168 70534168 single base substitution C A intron_variant MELA-AU 13 70534453 70534453 single base substitution C A intron_variant MELA-AU 13 70534492 70534492 single base substitution C T intron_variant MELA-AU 13 70534869 70534869 single base substitution A T intron_variant MELA-AU 13 70535016 70535016 single base substitution C T intron_variant MELA-AU 13 70535029 70535029 single base substitution C T intron_variant MELA-AU 13 70535066 70535066 single base substitution G A intron_variant MELA-AU 13 70535301 70535301 single base substitution G A intron_variant MELA-AU 13 70535332 70535332 single base substitution G A intron_variant MELA-AU 13 70535664 70535664 single base substitution C T intron_variant MELA-AU 13 70535789 70535789 single base substitution C T intron_variant MELA-AU 13 70535878 70535878 single base substitution C T intron_variant MELA-AU 13 70536187 70536187 single base substitution A T intron_variant MELA-AU 13 70536281 70536281 single base substitution C T intron_variant MELA-AU 13 70536437 70536437 single base substitution C T intron_variant MELA-AU 13 70536816 70536816 single base substitution G A intron_variant MELA-AU 13 70536836 70536836 single base substitution C T intron_variant MELA-AU 13 70536888 70536888 single base substitution C T intron_variant MELA-AU 13 70537066 70537066 single base substitution C T intron_variant MELA-AU 13 70537071 70537071 single base substitution C T intron_variant MELA-AU 13 70537308 70537308 single base substitution C T intron_variant MELA-AU 13 70537484 70537484 single base substitution C T intron_variant MELA-AU 13 70537586 70537586 single base substitution C T intron_variant MELA-AU 13 70537774 70537774 single base substitution C T intron_variant MELA-AU 13 70537875 70537875 single base substitution T C intron_variant MELA-AU 13 70537913 70537913 single base substitution C T intron_variant MELA-AU 13 70538096 70538096 single base substitution G A intron_variant MELA-AU 13 70538108 70538108 single base substitution G A intron_variant MELA-AU 13 70538499 70538499 single base substitution C T intron_variant MELA-AU 13 70538654 70538654 single base substitution G A intron_variant MELA-AU 13 70538796 70538796 single base substitution T C intron_variant MELA-AU 13 70539165 70539165 single base substitution G A intron_variant MELA-AU 13 70539234 70539234 single base substitution G A intron_variant MELA-AU 13 70539247 70539247 single base substitution G A intron_variant MELA-AU 13 70539478 70539478 single base substitution T A intron_variant MELA-AU 13 70539714 70539714 single base substitution T C intron_variant MELA-AU 13 70539793 70539793 single base substitution G A intron_variant MELA-AU 13 70540041 70540041 single base substitution G A intron_variant MELA-AU 13 70540045 70540045 single base substitution C T intron_variant MELA-AU 13 70540378 70540378 single base substitution T C intron_variant MELA-AU 13 70540380 70540380 single base substitution T C intron_variant MELA-AU 13 70540387 70540387 single base substitution G A intron_variant MELA-AU 13 70540445 70540445 single base substitution C T intron_variant MELA-AU 13 70540597 70540597 single base substitution T C intron_variant MELA-AU 13 70540628 70540628 single base substitution G T intron_variant MELA-AU 13 70540745 70540745 single base substitution C T intron_variant MELA-AU 13 70540819 70540819 single base substitution G T intron_variant MELA-AU 13 70540879 70540879 single base substitution C T intron_variant MELA-AU 13 70541047 70541047 single base substitution C T intron_variant MELA-AU 13 70541071 70541071 single base substitution G A intron_variant MELA-AU 13 70541076 70541076 single base substitution C T intron_variant MELA-AU 13 70541108 70541108 single base substitution G C intron_variant MELA-AU 13 70541140 70541140 single base substitution C T intron_variant MELA-AU 13 70541166 70541166 single base substitution C T intron_variant MELA-AU 13 70541213 70541213 single base substitution G A intron_variant MELA-AU 13 70541215 70541215 single base substitution T G intron_variant MELA-AU 13 70541239 70541239 single base substitution C T intron_variant MELA-AU 13 70541350 70541350 single base substitution C T intron_variant MELA-AU 13 70541377 70541377 single base substitution G A intron_variant MELA-AU 13 70541413 70541413 single base substitution C T intron_variant MELA-AU 13 70541420 70541420 single base substitution C A intron_variant MELA-AU 13 70541659 70541659 single base substitution G A intron_variant MELA-AU 13 70541820 70541820 single base substitution C T intron_variant MELA-AU 13 70541920 70541920 single base substitution G A intron_variant MELA-AU 13 70541985 70541985 single base substitution C T intron_variant MELA-AU 13 70542406 70542406 single base substitution G A intron_variant MELA-AU 13 70542873 70542873 single base substitution G A intron_variant MELA-AU 13 70543137 70543137 single base substitution G A intron_variant MELA-AU 13 70543142 70543142 single base substitution G A intron_variant MELA-AU 13 70543306 70543306 single base substitution G A intron_variant MELA-AU 13 70543417 70543431 deletion of <=200bp TTTAAAGTTCTCACT - intron_variant MELA-AU 13 70543435 70543435 single base substitution C T intron_variant MELA-AU 13 70543594 70543594 single base substitution A T intron_variant MELA-AU 13 70544062 70544062 single base substitution G A intron_variant MELA-AU 13 70544418 70544418 single base substitution C T intron_variant MELA-AU 13 70544419 70544419 single base substitution C T intron_variant MELA-AU 13 70544809 70544809 single base substitution G A intron_variant MELA-AU 13 70544825 70544825 single base substitution C T intron_variant MELA-AU 13 70544974 70544974 single base substitution C T intron_variant MELA-AU 13 70545023 70545023 single base substitution C T intron_variant MELA-AU 13 70545201 70545201 deletion of <=200bp T - intron_variant MELA-AU 13 70545257 70545257 single base substitution T G intron_variant MELA-AU 13 70545352 70545352 single base substitution C T intron_variant MELA-AU 13 70545582 70545582 single base substitution A T intron_variant MELA-AU 13 70545594 70545594 single base substitution C T intron_variant MELA-AU 13 70545624 70545624 single base substitution C T intron_variant MELA-AU 13 70545638 70545638 single base substitution C T intron_variant MELA-AU 13 70545665 70545665 single base substitution T A intron_variant MELA-AU 13 70545726 70545726 single base substitution C T intron_variant MELA-AU 13 70545732 70545732 single base substitution G A intron_variant MELA-AU 13 70546031 70546031 single base substitution G A intron_variant MELA-AU 13 70546195 70546195 single base substitution G A intron_variant MELA-AU 13 70546204 70546204 single base substitution A G intron_variant MELA-AU 13 70546275 70546275 single base substitution G A intron_variant MELA-AU 13 70546455 70546455 single base substitution C T intron_variant MELA-AU 13 70546761 70546761 single base substitution C T intron_variant MELA-AU 13 70546824 70546824 single base substitution A G intron_variant MELA-AU 13 70546910 70546910 single base substitution C T intron_variant MELA-AU 13 70546927 70546927 single base substitution T C intron_variant MELA-AU 13 70547013 70547013 single base substitution A T intron_variant MELA-AU 13 70547019 70547019 single base substitution C T intron_variant MELA-AU 13 70547122 70547122 single base substitution C T intron_variant MELA-AU 13 70547302 70547302 single base substitution G A intron_variant MELA-AU 13 70547449 70547449 single base substitution A T intron_variant MELA-AU 13 70548002 70548002 single base substitution C T intron_variant MELA-AU 13 70548023 70548024 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 70548086 70548086 single base substitution G A intron_variant MELA-AU 13 70548091 70548091 single base substitution A G intron_variant MELA-AU 13 70548137 70548137 single base substitution A G intron_variant MELA-AU 13 70548151 70548151 single base substitution G A intron_variant MELA-AU 13 70548157 70548157 single base substitution T C intron_variant MELA-AU 13 70548258 70548258 single base substitution C T intron_variant MELA-AU 13 70548270 70548270 single base substitution T C intron_variant MELA-AU 13 70548313 70548313 single base substitution G A intron_variant MELA-AU 13 70548334 70548334 single base substitution C T intron_variant MELA-AU 13 70548498 70548498 single base substitution C T intron_variant MELA-AU 13 70548505 70548505 single base substitution G A intron_variant MELA-AU 13 70549211 70549211 single base substitution G A intron_variant MELA-AU 13 70549300 70549300 single base substitution G A intron_variant MELA-AU 13 70549365 70549365 single base substitution G A intron_variant MELA-AU 13 70549452 70549452 single base substitution G A intron_variant MELA-AU 13 70549467 70549467 single base substitution C T intron_variant MELA-AU 13 70549594 70549594 single base substitution A T intron_variant MELA-AU 13 70549655 70549655 single base substitution T C intron_variant MELA-AU 13 70549729 70549729 single base substitution C T intron_variant MELA-AU 13 70549776 70549776 single base substitution C T intron_variant MELA-AU 13 70549776 70549776 single base substitution C T missense_variant G219E 656G>A MELA-AU 13 70549852 70549852 single base substitution G A intron_variant MELA-AU 13 70549852 70549852 single base substitution G A missense_variant H194Y 580C>T MELA-AU 13 70550095 70550095 single base substitution G A intron_variant MELA-AU 13 70550147 70550147 single base substitution G A intron_variant MELA-AU 13 70550157 70550157 single base substitution T A intron_variant MELA-AU 13 70550286 70550286 single base substitution C T intron_variant MELA-AU 13 70550379 70550379 single base substitution G A intron_variant MELA-AU 13 70550499 70550499 single base substitution A T intron_variant MELA-AU 13 70550619 70550619 single base substitution C T intron_variant MELA-AU 13 70550697 70550697 single base substitution G A intron_variant MELA-AU 13 70550844 70550844 single base substitution C T intron_variant MELA-AU 13 70550944 70550944 single base substitution C T intron_variant MELA-AU 13 70551048 70551048 single base substitution G A intron_variant MELA-AU 13 70551073 70551073 single base substitution G A intron_variant MELA-AU 13 70551487 70551487 single base substitution G A intron_variant MELA-AU 13 70551550 70551550 single base substitution A T intron_variant MELA-AU 13 70551620 70551620 single base substitution A T intron_variant MELA-AU 13 70551629 70551630 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 13 70552012 70552012 single base substitution G A intron_variant MELA-AU 13 70552173 70552173 single base substitution C T intron_variant MELA-AU 13 70552397 70552397 single base substitution G A intron_variant MELA-AU 13 70552432 70552432 single base substitution C T intron_variant MELA-AU 13 70552437 70552437 single base substitution G T intron_variant MELA-AU 13 70552440 70552440 single base substitution A G intron_variant MELA-AU 13 70552479 70552479 single base substitution G A intron_variant MELA-AU 13 70552506 70552506 single base substitution G A intron_variant MELA-AU 13 70552547 70552547 single base substitution G A intron_variant MELA-AU 13 70552601 70552601 single base substitution G A intron_variant MELA-AU 13 70552682 70552682 single base substitution G A intron_variant MELA-AU 13 70552717 70552717 single base substitution C T intron_variant MELA-AU 13 70552888 70552888 single base substitution G A intron_variant MELA-AU 13 70552972 70552972 single base substitution G T intron_variant MELA-AU 13 70553344 70553344 single base substitution C T intron_variant MELA-AU 13 70553389 70553389 single base substitution A G intron_variant MELA-AU 13 70553392 70553392 single base substitution C T intron_variant MELA-AU 13 70553484 70553484 single base substitution C T intron_variant MELA-AU 13 70553487 70553487 single base substitution G A intron_variant MELA-AU 13 70553681 70553681 single base substitution C T intron_variant MELA-AU 13 70554187 70554187 single base substitution C T intron_variant MELA-AU 13 70554215 70554215 single base substitution A G intron_variant MELA-AU 13 70554293 70554293 single base substitution G A intron_variant MELA-AU 13 70554356 70554356 single base substitution C T intron_variant MELA-AU 13 70554356 70554357 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 70554659 70554659 single base substitution C T intron_variant MELA-AU 13 70555247 70555247 single base substitution C T intron_variant MELA-AU 13 70555276 70555277 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 13 70555482 70555482 single base substitution G A intron_variant MELA-AU 13 70555854 70555854 single base substitution G A intron_variant MELA-AU 13 70556175 70556175 single base substitution C T intron_variant MELA-AU 13 70556358 70556358 single base substitution G A intron_variant MELA-AU 13 70556908 70556908 single base substitution G T intron_variant MELA-AU 13 70556911 70556911 single base substitution G A intron_variant MELA-AU 13 70556985 70556985 single base substitution G A intron_variant MELA-AU 13 70557133 70557133 single base substitution C T intron_variant MELA-AU 13 70557157 70557157 single base substitution C T intron_variant MELA-AU 13 70557326 70557326 single base substitution G A intron_variant MELA-AU 13 70557499 70557499 single base substitution T C intron_variant MELA-AU 13 70557989 70557989 single base substitution G A intron_variant MELA-AU 13 70557995 70557995 single base substitution G A intron_variant MELA-AU 13 70558050 70558050 single base substitution C T intron_variant MELA-AU 13 70558199 70558199 single base substitution G A intron_variant MELA-AU 13 70558538 70558538 single base substitution C T intron_variant MELA-AU 13 70558569 70558569 single base substitution G A intron_variant MELA-AU 13 70558607 70558607 single base substitution T A intron_variant MELA-AU 13 70558676 70558676 single base substitution A T intron_variant MELA-AU 13 70558734 70558734 single base substitution C T intron_variant MELA-AU 13 70558750 70558750 single base substitution G A intron_variant MELA-AU 13 70558762 70558762 single base substitution C T intron_variant MELA-AU 13 70558853 70558853 single base substitution C T intron_variant MELA-AU 13 70558869 70558869 single base substitution C T intron_variant MELA-AU 13 70558882 70558882 single base substitution G A intron_variant MELA-AU 13 70558959 70558959 single base substitution G T intron_variant MELA-AU 13 70559138 70559138 single base substitution G A intron_variant MELA-AU 13 70559480 70559480 single base substitution G A intron_variant MELA-AU 13 70559539 70559539 single base substitution C T intron_variant MELA-AU 13 70559576 70559576 single base substitution C T intron_variant MELA-AU 13 70559789 70559789 single base substitution G A intron_variant MELA-AU 13 70559798 70559798 single base substitution G A intron_variant MELA-AU 13 70559863 70559863 single base substitution C T intron_variant MELA-AU 13 70559924 70559924 single base substitution A T intron_variant MELA-AU 13 70560050 70560050 single base substitution A T intron_variant MELA-AU 13 70560095 70560095 single base substitution C T intron_variant MELA-AU 13 70560438 70560438 single base substitution C T intron_variant MELA-AU 13 70560520 70560520 single base substitution C T intron_variant MELA-AU 13 70560555 70560555 single base substitution G A intron_variant MELA-AU 13 70560881 70560881 single base substitution G A intron_variant MELA-AU 13 70561072 70561072 single base substitution T A intron_variant MELA-AU 13 70561106 70561106 single base substitution T A intron_variant MELA-AU 13 70561116 70561116 single base substitution A C intron_variant MELA-AU 13 70561137 70561137 single base substitution G A intron_variant MELA-AU 13 70561156 70561156 single base substitution T C intron_variant MELA-AU 13 70561197 70561197 single base substitution C T intron_variant MELA-AU 13 70561235 70561235 single base substitution C T intron_variant MELA-AU 13 70561332 70561332 single base substitution T A intron_variant MELA-AU 13 70561512 70561512 single base substitution C T intron_variant MELA-AU 13 70561657 70561657 single base substitution G A intron_variant MELA-AU 13 70561658 70561658 single base substitution G A intron_variant MELA-AU 13 70561709 70561709 single base substitution G A intron_variant MELA-AU 13 70561718 70561718 single base substitution G A intron_variant MELA-AU 13 70561748 70561748 single base substitution G A intron_variant MELA-AU 13 70561845 70561845 single base substitution G A intron_variant MELA-AU 13 70562097 70562097 single base substitution C T intron_variant MELA-AU 13 70562144 70562144 single base substitution G A intron_variant MELA-AU 13 70562243 70562243 single base substitution C T intron_variant MELA-AU 13 70562245 70562245 single base substitution C T intron_variant MELA-AU 13 70562409 70562410 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 70562437 70562437 single base substitution C T intron_variant MELA-AU 13 70562710 70562710 single base substitution G A intron_variant MELA-AU 13 70562735 70562735 single base substitution C T intron_variant MELA-AU 13 70562771 70562771 single base substitution T A intron_variant MELA-AU 13 70562832 70562832 single base substitution C T intron_variant MELA-AU 13 70562892 70562892 single base substitution C T intron_variant MELA-AU 13 70562966 70562966 single base substitution C T intron_variant MELA-AU 13 70563154 70563154 single base substitution G A intron_variant MELA-AU 13 70563201 70563201 single base substitution C T intron_variant MELA-AU 13 70563595 70563595 single base substitution G A intron_variant MELA-AU 13 70563728 70563728 single base substitution G A intron_variant MELA-AU 13 70563751 70563751 single base substitution G A intron_variant MELA-AU 13 70563998 70563998 single base substitution G A intron_variant MELA-AU 13 70564043 70564043 single base substitution G A intron_variant MELA-AU 13 70564057 70564057 single base substitution C T intron_variant MELA-AU 13 70564179 70564179 single base substitution C T intron_variant MELA-AU 13 70564180 70564180 single base substitution C T intron_variant MELA-AU 13 70564193 70564193 single base substitution C T intron_variant MELA-AU 13 70564264 70564264 single base substitution G A intron_variant MELA-AU 13 70564338 70564338 single base substitution C T intron_variant MELA-AU 13 70564493 70564493 single base substitution A T intron_variant MELA-AU 13 70564652 70564652 single base substitution C T intron_variant MELA-AU 13 70564893 70564893 single base substitution G A intron_variant MELA-AU 13 70564912 70564912 single base substitution C A intron_variant MELA-AU 13 70564998 70564998 single base substitution C T intron_variant MELA-AU 13 70565074 70565074 single base substitution C T intron_variant MELA-AU 13 70565107 70565107 single base substitution A T intron_variant MELA-AU 13 70565145 70565145 single base substitution T C intron_variant MELA-AU 13 70565297 70565297 single base substitution G A intron_variant MELA-AU 13 70565471 70565471 single base substitution A T intron_variant MELA-AU 13 70565484 70565484 single base substitution G A intron_variant MELA-AU 13 70565751 70565751 single base substitution C T intron_variant MELA-AU 13 70565935 70565935 single base substitution G T intron_variant MELA-AU 13 70566059 70566059 single base substitution C T intron_variant MELA-AU 13 70566258 70566258 single base substitution G A intron_variant MELA-AU 13 70566300 70566300 single base substitution T G intron_variant MELA-AU 13 70566308 70566308 single base substitution T A intron_variant MELA-AU 13 70566465 70566465 single base substitution T C intron_variant MELA-AU 13 70566533 70566533 single base substitution G A intron_variant MELA-AU 13 70566595 70566595 single base substitution G A intron_variant MELA-AU 13 70566680 70566680 single base substitution G A intron_variant MELA-AU 13 70566794 70566794 single base substitution C T intron_variant MELA-AU 13 70566908 70566908 single base substitution C T intron_variant MELA-AU 13 70567017 70567017 single base substitution T C intron_variant MELA-AU 13 70567488 70567488 single base substitution C T intron_variant MELA-AU 13 70567497 70567497 single base substitution G A intron_variant MELA-AU 13 70567622 70567622 single base substitution C G intron_variant MELA-AU 13 70567633 70567633 single base substitution G A intron_variant MELA-AU 13 70567644 70567644 single base substitution C T intron_variant MELA-AU 13 70567673 70567673 single base substitution C T intron_variant MELA-AU 13 70567675 70567675 single base substitution T A intron_variant MELA-AU 13 70567702 70567702 single base substitution C T intron_variant MELA-AU 13 70567773 70567773 single base substitution C T intron_variant MELA-AU 13 70567776 70567776 single base substitution C T intron_variant MELA-AU 13 70567828 70567828 single base substitution G A intron_variant MELA-AU 13 70567890 70567890 single base substitution T A intron_variant MELA-AU 13 70567917 70567917 single base substitution G A intron_variant MELA-AU 13 70567947 70567947 single base substitution C T intron_variant MELA-AU 13 70567969 70567969 single base substitution G A intron_variant MELA-AU 13 70568059 70568059 single base substitution G A intron_variant MELA-AU 13 70568186 70568186 single base substitution G A intron_variant MELA-AU 13 70568301 70568301 single base substitution G A intron_variant MELA-AU 13 70568363 70568363 single base substitution C T intron_variant MELA-AU 13 70568460 70568460 single base substitution C T intron_variant MELA-AU 13 70568495 70568495 single base substitution C T intron_variant MELA-AU 13 70568601 70568601 single base substitution C T intron_variant MELA-AU 13 70568849 70568849 single base substitution G A intron_variant MELA-AU 13 70568892 70568892 single base substitution G A intron_variant MELA-AU 13 70568921 70568921 single base substitution C T intron_variant MELA-AU 13 70568939 70568939 single base substitution G A intron_variant MELA-AU 13 70569169 70569169 single base substitution C T intron_variant MELA-AU 13 70569385 70569385 single base substitution C T intron_variant MELA-AU 13 70569483 70569483 single base substitution C T intron_variant MELA-AU 13 70569490 70569490 single base substitution G A intron_variant MELA-AU 13 70569772 70569772 single base substitution C T intron_variant MELA-AU 13 70569839 70569839 single base substitution C G intron_variant MELA-AU 13 70569968 70569968 single base substitution G A intron_variant MELA-AU 13 70569969 70569969 single base substitution G A intron_variant MELA-AU 13 70570209 70570209 single base substitution G A intron_variant MELA-AU 13 70570389 70570389 single base substitution C T intron_variant MELA-AU 13 70570464 70570464 single base substitution C T intron_variant MELA-AU 13 70570611 70570611 single base substitution G A intron_variant MELA-AU 13 70570805 70570805 single base substitution G A intron_variant MELA-AU 13 70571070 70571070 single base substitution T C intron_variant MELA-AU 13 70571261 70571261 single base substitution G A intron_variant MELA-AU 13 70571290 70571290 single base substitution T C intron_variant MELA-AU 13 70571363 70571363 single base substitution G A intron_variant MELA-AU 13 70571384 70571384 single base substitution C T intron_variant MELA-AU 13 70571408 70571408 single base substitution T A intron_variant MELA-AU 13 70571418 70571418 single base substitution T A intron_variant MELA-AU 13 70571429 70571429 single base substitution T G intron_variant MELA-AU 13 70571603 70571603 single base substitution C T intron_variant MELA-AU 13 70571940 70571940 single base substitution A C intron_variant MELA-AU 13 70572008 70572008 single base substitution C T intron_variant MELA-AU 13 70572220 70572220 single base substitution G C intron_variant MELA-AU 13 70572262 70572262 single base substitution C T intron_variant MELA-AU 13 70572381 70572381 single base substitution G A intron_variant MELA-AU 13 70572549 70572549 single base substitution C T intron_variant MELA-AU 13 70572558 70572558 single base substitution G A intron_variant MELA-AU 13 70572734 70572734 single base substitution C T intron_variant MELA-AU 13 70572805 70572805 single base substitution T A intron_variant MELA-AU 13 70572864 70572864 single base substitution C T intron_variant MELA-AU 13 70572938 70572938 single base substitution C T intron_variant MELA-AU 13 70572998 70572998 deletion of <=200bp T - intron_variant MELA-AU 13 70573176 70573176 single base substitution C T intron_variant MELA-AU 13 70573178 70573178 single base substitution C T intron_variant MELA-AU 13 70573507 70573507 single base substitution C T intron_variant MELA-AU 13 70573657 70573657 single base substitution G A intron_variant MELA-AU 13 70573777 70573777 single base substitution G T intron_variant MELA-AU 13 70573813 70573813 single base substitution C T intron_variant MELA-AU 13 70573833 70573833 single base substitution G A intron_variant MELA-AU 13 70574035 70574035 single base substitution G A intron_variant MELA-AU 13 70574294 70574294 single base substitution G A intron_variant MELA-AU 13 70574413 70574413 single base substitution G A intron_variant MELA-AU 13 70574501 70574501 single base substitution T C intron_variant MELA-AU 13 70574676 70574677 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 70574861 70574861 single base substitution C T intron_variant MELA-AU 13 70575031 70575031 single base substitution A C intron_variant MELA-AU 13 70575406 70575406 single base substitution A G intron_variant MELA-AU 13 70575551 70575551 single base substitution C T intron_variant MELA-AU 13 70575609 70575609 single base substitution G A intron_variant MELA-AU 13 70575634 70575634 single base substitution G A intron_variant MELA-AU 13 70575654 70575654 single base substitution G A intron_variant MELA-AU 13 70575711 70575711 single base substitution G C intron_variant MELA-AU 13 70575713 70575713 single base substitution G A intron_variant MELA-AU 13 70575746 70575746 single base substitution T C intron_variant MELA-AU 13 70575750 70575750 single base substitution C T intron_variant MELA-AU 13 70575782 70575782 single base substitution C T intron_variant MELA-AU 13 70575821 70575821 single base substitution C T intron_variant MELA-AU 13 70576293 70576293 single base substitution T C intron_variant MELA-AU 13 70576544 70576544 single base substitution G A intron_variant MELA-AU 13 70576889 70576889 single base substitution C T intron_variant MELA-AU 13 70577025 70577025 single base substitution A G intron_variant MELA-AU 13 70577091 70577091 single base substitution A T intron_variant MELA-AU 13 70577168 70577168 single base substitution T G intron_variant MELA-AU 13 70577244 70577244 single base substitution G A intron_variant MELA-AU 13 70577304 70577304 single base substitution A T intron_variant MELA-AU 13 70577317 70577317 single base substitution C T intron_variant MELA-AU 13 70577320 70577320 single base substitution C T intron_variant MELA-AU 13 70577353 70577353 single base substitution C T intron_variant MELA-AU 13 70577374 70577374 single base substitution C T intron_variant MELA-AU 13 70577406 70577406 single base substitution G A intron_variant MELA-AU 13 70577599 70577599 single base substitution G A intron_variant MELA-AU 13 70577809 70577809 single base substitution G A intron_variant MELA-AU 13 70577879 70577880 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 13 70578000 70578000 single base substitution G A intron_variant MELA-AU 13 70578335 70578335 single base substitution G A intron_variant MELA-AU 13 70578364 70578364 single base substitution G A intron_variant MELA-AU 13 70578800 70578800 single base substitution C T intron_variant MELA-AU 13 70578988 70578988 single base substitution G A intron_variant MELA-AU 13 70579071 70579071 single base substitution C T intron_variant MELA-AU 13 70579304 70579304 single base substitution G A intron_variant MELA-AU 13 70579653 70579653 single base substitution G A intron_variant MELA-AU 13 70579714 70579714 single base substitution T G intron_variant MELA-AU 13 70579844 70579844 single base substitution G A intron_variant MELA-AU 13 70579868 70579868 single base substitution G A intron_variant MELA-AU 13 70580061 70580061 single base substitution G A intron_variant MELA-AU 13 70580181 70580181 single base substitution C T intron_variant MELA-AU 13 70580229 70580229 single base substitution G A intron_variant MELA-AU 13 70580248 70580248 single base substitution C T intron_variant MELA-AU 13 70580371 70580371 single base substitution G A intron_variant MELA-AU 13 70580470 70580470 single base substitution C T intron_variant MELA-AU 13 70580537 70580537 single base substitution G A intron_variant MELA-AU 13 70580615 70580615 single base substitution C T intron_variant MELA-AU 13 70580812 70580812 single base substitution G A intron_variant MELA-AU 13 70580920 70580920 single base substitution G A intron_variant MELA-AU 13 70581078 70581078 single base substitution A G intron_variant MELA-AU 13 70581190 70581190 single base substitution G C intron_variant MELA-AU 13 70581628 70581628 single base substitution C A intron_variant MELA-AU 13 70581628 70581628 single base substitution C T intron_variant MELA-AU 13 70581751 70581751 single base substitution G A intron_variant MELA-AU 13 70581978 70581978 single base substitution G A intron_variant MELA-AU 13 70582217 70582217 single base substitution T A intron_variant MELA-AU 13 70582737 70582737 single base substitution C T intron_variant MELA-AU 13 70582742 70582742 single base substitution C T intron_variant MELA-AU 13 70582783 70582783 single base substitution C T intron_variant MELA-AU 13 70582978 70582978 single base substitution C T intron_variant MELA-AU 13 70583140 70583140 single base substitution A G intron_variant MELA-AU 13 70583332 70583332 single base substitution G A intron_variant MELA-AU 13 70583413 70583413 single base substitution C T intron_variant MELA-AU 13 70583513 70583513 single base substitution G A intron_variant MELA-AU 13 70583515 70583515 single base substitution G A intron_variant MELA-AU 13 70583640 70583640 single base substitution G A intron_variant MELA-AU 13 70583662 70583662 single base substitution G A intron_variant MELA-AU 13 70583994 70583994 single base substitution A C intron_variant MELA-AU 13 70583997 70583997 single base substitution A T intron_variant MELA-AU 13 70584055 70584055 single base substitution G A intron_variant MELA-AU 13 70584324 70584324 single base substitution G A intron_variant MELA-AU 13 70584474 70584474 single base substitution G A intron_variant MELA-AU 13 70584670 70584670 single base substitution G A intron_variant MELA-AU 13 70584714 70584714 single base substitution G A intron_variant MELA-AU 13 70584716 70584716 single base substitution G A intron_variant MELA-AU 13 70584890 70584890 single base substitution G A intron_variant MELA-AU 13 70585327 70585327 single base substitution G A intron_variant MELA-AU 13 70585328 70585328 single base substitution G A intron_variant MELA-AU 13 70585663 70585663 single base substitution A T intron_variant MELA-AU 13 70585773 70585773 single base substitution T A intron_variant MELA-AU 13 70585814 70585814 single base substitution G A intron_variant MELA-AU 13 70585847 70585847 single base substitution G A intron_variant MELA-AU 13 70585891 70585891 single base substitution C T intron_variant MELA-AU 13 70586065 70586065 single base substitution T A intron_variant MELA-AU 13 70586210 70586210 single base substitution G A intron_variant MELA-AU 13 70586302 70586302 single base substitution C T intron_variant MELA-AU 13 70586514 70586514 single base substitution A G intron_variant MELA-AU 13 70586600 70586600 single base substitution C T intron_variant MELA-AU 13 70586617 70586617 single base substitution G A intron_variant MELA-AU 13 70586633 70586633 single base substitution G C intron_variant MELA-AU 13 70586667 70586667 single base substitution G A intron_variant MELA-AU 13 70586869 70586869 single base substitution C T intron_variant MELA-AU 13 70586873 70586873 single base substitution T A intron_variant MELA-AU 13 70587026 70587026 single base substitution T C intron_variant MELA-AU 13 70587043 70587043 single base substitution A T intron_variant MELA-AU 13 70587068 70587068 single base substitution C T intron_variant MELA-AU 13 70587109 70587109 single base substitution C T intron_variant MELA-AU 13 70587429 70587429 single base substitution G A intron_variant MELA-AU 13 70587555 70587555 single base substitution C T intron_variant MELA-AU 13 70587556 70587556 single base substitution T C intron_variant MELA-AU 13 70587713 70587713 single base substitution G A intron_variant MELA-AU 13 70587736 70587736 single base substitution T A intron_variant MELA-AU 13 70587757 70587757 single base substitution G A intron_variant MELA-AU 13 70587908 70587908 single base substitution C T intron_variant MELA-AU 13 70588019 70588019 single base substitution G A intron_variant MELA-AU 13 70588243 70588243 single base substitution A G intron_variant MELA-AU 13 70588317 70588317 single base substitution C T intron_variant MELA-AU 13 70588355 70588355 single base substitution G A intron_variant MELA-AU 13 70588449 70588449 single base substitution G A intron_variant MELA-AU 13 70588450 70588450 single base substitution G A intron_variant MELA-AU 13 70588504 70588504 single base substitution C T intron_variant MELA-AU 13 70588654 70588654 single base substitution C T intron_variant MELA-AU 13 70588690 70588690 single base substitution G A intron_variant MELA-AU 13 70588721 70588721 single base substitution C T intron_variant MELA-AU 13 70588785 70588785 single base substitution C T intron_variant MELA-AU 13 70588787 70588787 single base substitution A T intron_variant MELA-AU 13 70589187 70589187 single base substitution A G intron_variant MELA-AU 13 70589252 70589252 single base substitution G A intron_variant MELA-AU 13 70589276 70589276 single base substitution G A intron_variant MELA-AU 13 70589384 70589384 single base substitution G A intron_variant MELA-AU 13 70589934 70589934 single base substitution C T intron_variant MELA-AU 13 70590147 70590147 single base substitution G A intron_variant MELA-AU 13 70590279 70590279 single base substitution C T intron_variant MELA-AU 13 70590329 70590329 single base substitution C T intron_variant MELA-AU 13 70590475 70590475 single base substitution G A intron_variant MELA-AU 13 70590569 70590569 single base substitution C T intron_variant MELA-AU 13 70590656 70590656 single base substitution C T intron_variant MELA-AU 13 70590716 70590716 single base substitution C T intron_variant MELA-AU 13 70590722 70590722 single base substitution C T intron_variant MELA-AU 13 70590733 70590733 single base substitution G A intron_variant MELA-AU 13 70590750 70590750 single base substitution G A intron_variant MELA-AU 13 70590822 70590822 single base substitution C T intron_variant MELA-AU 13 70590875 70590875 single base substitution G A intron_variant MELA-AU 13 70591075 70591075 single base substitution G A intron_variant MELA-AU 13 70591113 70591113 single base substitution C G intron_variant MELA-AU 13 70591244 70591244 single base substitution C T intron_variant MELA-AU 13 70591258 70591258 single base substitution C T intron_variant MELA-AU 13 70591301 70591301 single base substitution A G intron_variant MELA-AU 13 70591681 70591681 single base substitution C T intron_variant MELA-AU 13 70592323 70592323 single base substitution G A intron_variant MELA-AU 13 70592323 70592323 single base substitution G C intron_variant MELA-AU 13 70592630 70592630 single base substitution G A intron_variant MELA-AU 13 70592792 70592792 single base substitution G A intron_variant MELA-AU 13 70592841 70592841 single base substitution T C intron_variant MELA-AU 13 70592992 70592992 single base substitution G A intron_variant MELA-AU 13 70593066 70593066 single base substitution G A intron_variant MELA-AU 13 70593069 70593069 single base substitution C T intron_variant MELA-AU 13 70593118 70593118 single base substitution C T intron_variant MELA-AU 13 70593249 70593249 single base substitution C T intron_variant MELA-AU 13 70593413 70593413 single base substitution G A intron_variant MELA-AU 13 70593653 70593653 single base substitution C T intron_variant MELA-AU 13 70593667 70593667 single base substitution T A intron_variant MELA-AU 13 70593748 70593748 single base substitution C G intron_variant MELA-AU 13 70593773 70593773 single base substitution G A intron_variant MELA-AU 13 70594013 70594013 single base substitution G A intron_variant MELA-AU 13 70594036 70594036 single base substitution G A intron_variant MELA-AU 13 70594081 70594081 single base substitution C T intron_variant MELA-AU 13 70594099 70594100 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 70594449 70594449 single base substitution C T intron_variant MELA-AU 13 70594482 70594482 single base substitution T C intron_variant MELA-AU 13 70594622 70594622 single base substitution G A intron_variant MELA-AU 13 70594637 70594637 single base substitution C T intron_variant MELA-AU 13 70594898 70594898 single base substitution A G intron_variant MELA-AU 13 70595072 70595072 single base substitution C T intron_variant MELA-AU 13 70595298 70595298 single base substitution C T intron_variant MELA-AU 13 70595329 70595329 single base substitution C T intron_variant MELA-AU 13 70595379 70595379 single base substitution A C intron_variant MELA-AU 13 70595713 70595713 single base substitution C A intron_variant MELA-AU 13 70595729 70595729 single base substitution C T intron_variant MELA-AU 13 70596137 70596137 single base substitution C T intron_variant MELA-AU 13 70596639 70596639 single base substitution T C intron_variant MELA-AU 13 70596695 70596695 single base substitution G A intron_variant MELA-AU 13 70597082 70597082 single base substitution C T intron_variant MELA-AU 13 70597291 70597291 single base substitution C T intron_variant MELA-AU 13 70597299 70597299 single base substitution A T intron_variant MELA-AU 13 70597390 70597390 single base substitution T C intron_variant MELA-AU 13 70597539 70597539 single base substitution C T intron_variant MELA-AU 13 70597629 70597629 single base substitution C T intron_variant MELA-AU 13 70597981 70598011 deletion of <=200bp TTGCCTCAAACAAGTGTCATAACATGTTGGG - intron_variant MELA-AU 13 70598250 70598250 single base substitution G A intron_variant MELA-AU 13 70598510 70598510 single base substitution G A intron_variant MELA-AU 13 70598592 70598592 single base substitution T A intron_variant MELA-AU 13 70598704 70598705 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 13 70598842 70598842 single base substitution G A intron_variant MELA-AU 13 70599109 70599109 single base substitution C T intron_variant MELA-AU 13 70599218 70599218 single base substitution A T intron_variant MELA-AU 13 70599531 70599531 single base substitution C G intron_variant MELA-AU 13 70599553 70599553 single base substitution C T intron_variant MELA-AU 13 70599613 70599613 single base substitution C G intron_variant MELA-AU 13 70599638 70599638 single base substitution C G intron_variant MELA-AU 13 70599712 70599712 single base substitution C A intron_variant MELA-AU 13 70599764 70599764 single base substitution C G intron_variant MELA-AU 13 70600059 70600059 single base substitution C T intron_variant MELA-AU 13 70600202 70600202 single base substitution G A intron_variant MELA-AU 13 70600468 70600468 single base substitution C T intron_variant MELA-AU 13 70600539 70600539 single base substitution G A intron_variant MELA-AU 13 70601021 70601021 single base substitution G A intron_variant MELA-AU 13 70601363 70601363 single base substitution C T intron_variant MELA-AU 13 70602588 70602588 single base substitution A G intron_variant MELA-AU 13 70602601 70602601 single base substitution G A intron_variant MELA-AU 13 70602645 70602645 single base substitution C T intron_variant MELA-AU 13 70602664 70602664 single base substitution G A intron_variant MELA-AU 13 70602698 70602698 single base substitution C T intron_variant MELA-AU 13 70603093 70603093 single base substitution G A intron_variant MELA-AU 13 70603725 70603725 single base substitution C T intron_variant MELA-AU 13 70603854 70603854 single base substitution C T intron_variant MELA-AU 13 70604582 70604582 single base substitution C T intron_variant MELA-AU 13 70604639 70604639 single base substitution G A intron_variant MELA-AU 13 70605476 70605476 single base substitution C T intron_variant MELA-AU 13 70605721 70605729 deletion of <=200bp AGACAGGTT - intron_variant MELA-AU 13 70605771 70605771 single base substitution G A intron_variant MELA-AU 13 70606222 70606222 single base substitution G A intron_variant MELA-AU 13 70606232 70606232 single base substitution G A intron_variant MELA-AU 13 70606360 70606360 single base substitution C T intron_variant MELA-AU 13 70606829 70606829 single base substitution C T intron_variant MELA-AU 13 70607109 70607109 single base substitution C T intron_variant MELA-AU 13 70607250 70607250 single base substitution G A intron_variant MELA-AU 13 70607343 70607343 single base substitution G A intron_variant MELA-AU 13 70607358 70607358 single base substitution T C intron_variant MELA-AU 13 70607557 70607557 single base substitution G A intron_variant MELA-AU 13 70607667 70607667 single base substitution C T intron_variant MELA-AU 13 70608060 70608060 single base substitution C T intron_variant MELA-AU 13 70608267 70608267 single base substitution G C intron_variant MELA-AU 13 70608408 70608408 single base substitution G A intron_variant MELA-AU 13 70608721 70608721 single base substitution G A intron_variant MELA-AU 13 70608735 70608735 single base substitution A T intron_variant MELA-AU 13 70608750 70608750 single base substitution C T intron_variant MELA-AU 13 70608854 70608854 single base substitution G A intron_variant MELA-AU 13 70608869 70608869 single base substitution C T intron_variant MELA-AU 13 70609168 70609168 single base substitution T C intron_variant MELA-AU 13 70609278 70609278 single base substitution C T intron_variant MELA-AU 13 70609435 70609435 single base substitution C T intron_variant MELA-AU 13 70609678 70609678 single base substitution G A intron_variant MELA-AU 13 70609734 70609734 single base substitution G A intron_variant MELA-AU 13 70610178 70610178 single base substitution G A intron_variant MELA-AU 13 70610194 70610194 single base substitution G A intron_variant MELA-AU 13 70610387 70610387 single base substitution C T intron_variant MELA-AU 13 70610540 70610540 single base substitution A T intron_variant MELA-AU 13 70611004 70611004 single base substitution T A intron_variant MELA-AU 13 70611091 70611091 single base substitution G A intron_variant MELA-AU 13 70611267 70611267 single base substitution T A intron_variant MELA-AU 13 70611268 70611268 single base substitution C T intron_variant MELA-AU 13 70611461 70611461 single base substitution C T intron_variant MELA-AU 13 70611609 70611609 single base substitution C T intron_variant MELA-AU 13 70611825 70611825 single base substitution C T intron_variant MELA-AU 13 70611867 70611867 single base substitution C T intron_variant MELA-AU 13 70612029 70612029 single base substitution C T intron_variant MELA-AU 13 70612702 70612702 single base substitution G A intron_variant MELA-AU 13 70612740 70612740 single base substitution G C intron_variant MELA-AU 13 70613194 70613194 single base substitution T A intron_variant MELA-AU 13 70613760 70613760 single base substitution T A intron_variant MELA-AU 13 70613825 70613825 single base substitution A T intron_variant MELA-AU 13 70613829 70613829 single base substitution T A intron_variant MELA-AU 13 70613906 70613906 single base substitution G A intron_variant MELA-AU 13 70614096 70614096 single base substitution C T intron_variant MELA-AU 13 70614119 70614119 single base substitution C T intron_variant MELA-AU 13 70614269 70614269 single base substitution G A intron_variant MELA-AU 13 70614435 70614435 single base substitution G A intron_variant MELA-AU 13 70614712 70614712 single base substitution G A intron_variant MELA-AU 13 70614723 70614723 single base substitution C T intron_variant MELA-AU 13 70614918 70614918 single base substitution G A intron_variant MELA-AU 13 70615061 70615061 single base substitution C T intron_variant MELA-AU 13 70615218 70615218 single base substitution C T intron_variant MELA-AU 13 70615304 70615304 single base substitution G A intron_variant MELA-AU 13 70615335 70615335 single base substitution T A intron_variant MELA-AU 13 70615555 70615555 single base substitution C T intron_variant MELA-AU 13 70615569 70615569 single base substitution C T intron_variant MELA-AU 13 70615615 70615615 single base substitution G A intron_variant MELA-AU 13 70615654 70615654 single base substitution G A intron_variant MELA-AU 13 70615735 70615735 single base substitution C T intron_variant MELA-AU 13 70615736 70615736 single base substitution C T intron_variant MELA-AU 13 70615806 70615806 single base substitution C T intron_variant MELA-AU 13 70615891 70615891 single base substitution C T intron_variant MELA-AU 13 70616046 70616046 single base substitution G A intron_variant MELA-AU 13 70616104 70616104 single base substitution C T intron_variant MELA-AU 13 70616220 70616220 single base substitution T C intron_variant MELA-AU 13 70616275 70616275 single base substitution G A intron_variant MELA-AU 13 70616497 70616497 single base substitution G A intron_variant MELA-AU 13 70616724 70616724 single base substitution C T intron_variant MELA-AU 13 70616731 70616731 single base substitution A T intron_variant MELA-AU 13 70617394 70617394 single base substitution G A intron_variant MELA-AU 13 70618319 70618319 single base substitution G A intron_variant MELA-AU 13 70618673 70618673 single base substitution G A intron_variant MELA-AU 13 70618748 70618748 single base substitution C T intron_variant MELA-AU 13 70618822 70618822 single base substitution G A intron_variant MELA-AU 13 70619170 70619170 single base substitution C A intron_variant MELA-AU 13 70619291 70619291 single base substitution G A intron_variant MELA-AU 13 70619414 70619414 single base substitution C T intron_variant MELA-AU 13 70619567 70619567 single base substitution G A intron_variant MELA-AU 13 70619588 70619588 single base substitution A T intron_variant MELA-AU 13 70619908 70619908 single base substitution T A intron_variant MELA-AU 13 70619996 70619996 deletion of <=200bp C - intron_variant MELA-AU 13 70620009 70620009 single base substitution G C intron_variant MELA-AU 13 70620199 70620199 single base substitution C T intron_variant MELA-AU 13 70620550 70620550 single base substitution G A intron_variant MELA-AU 13 70620556 70620557 multiple base substitution (>=2bp and <=200bp) TT GA intron_variant MELA-AU 13 70620603 70620603 single base substitution T C intron_variant MELA-AU 13 70620834 70620834 single base substitution C T intron_variant MELA-AU 13 70620915 70620915 single base substitution G A intron_variant MELA-AU 13 70620991 70620991 single base substitution G A intron_variant MELA-AU 13 70621021 70621021 single base substitution G A intron_variant MELA-AU 13 70621081 70621081 single base substitution T C intron_variant MELA-AU 13 70621138 70621138 single base substitution T C intron_variant MELA-AU 13 70621405 70621405 single base substitution G A intron_variant MELA-AU 13 70621414 70621414 single base substitution A C intron_variant MELA-AU 13 70621416 70621416 single base substitution A T intron_variant MELA-AU 13 70621651 70621651 single base substitution C T intron_variant MELA-AU 13 70621685 70621685 single base substitution C T intron_variant MELA-AU 13 70621686 70621686 single base substitution C T intron_variant MELA-AU 13 70621841 70621841 single base substitution A T intron_variant MELA-AU 13 70621925 70621925 single base substitution C T intron_variant MELA-AU 13 70622181 70622181 single base substitution G A intron_variant MELA-AU 13 70622622 70622622 single base substitution A G intron_variant MELA-AU 13 70622684 70622684 single base substitution G A intron_variant MELA-AU 13 70622872 70622872 single base substitution G A intron_variant MELA-AU 13 70622993 70622993 single base substitution G A intron_variant MELA-AU 13 70623032 70623032 single base substitution G A intron_variant MELA-AU 13 70623074 70623074 single base substitution C T intron_variant MELA-AU 13 70623136 70623136 single base substitution C T intron_variant MELA-AU 13 70623139 70623139 single base substitution G A intron_variant MELA-AU 13 70623256 70623256 single base substitution G A intron_variant MELA-AU 13 70623449 70623449 single base substitution T A intron_variant MELA-AU 13 70623537 70623537 single base substitution C T intron_variant MELA-AU 13 70623870 70623870 single base substitution G A intron_variant MELA-AU 13 70623975 70623975 single base substitution A T intron_variant MELA-AU 13 70624077 70624077 single base substitution G A intron_variant MELA-AU 13 70624346 70624346 single base substitution G A intron_variant MELA-AU 13 70625000 70625000 single base substitution T A intron_variant MELA-AU 13 70625015 70625015 single base substitution A T intron_variant MELA-AU 13 70625020 70625020 single base substitution C T intron_variant MELA-AU 13 70625203 70625203 single base substitution G A intron_variant MELA-AU 13 70625472 70625472 single base substitution G A intron_variant MELA-AU 13 70625770 70625770 single base substitution G A intron_variant MELA-AU 13 70625993 70625993 single base substitution T C intron_variant MELA-AU 13 70626058 70626058 single base substitution C T intron_variant MELA-AU 13 70626798 70626798 single base substitution C T intron_variant MELA-AU 13 70626833 70626833 single base substitution T A intron_variant MELA-AU 13 70626852 70626853 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 13 70627104 70627104 single base substitution G A intron_variant MELA-AU 13 70627226 70627226 single base substitution G A intron_variant MELA-AU 13 70627233 70627233 single base substitution G A intron_variant MELA-AU 13 70627362 70627362 single base substitution G A intron_variant MELA-AU 13 70627414 70627414 single base substitution C T intron_variant MELA-AU 13 70627493 70627493 single base substitution G A intron_variant MELA-AU 13 70627507 70627507 single base substitution G A intron_variant MELA-AU 13 70627566 70627566 single base substitution T A intron_variant MELA-AU 13 70627925 70627925 single base substitution C T intron_variant MELA-AU 13 70628236 70628236 single base substitution G A intron_variant MELA-AU 13 70628314 70628314 single base substitution C T intron_variant MELA-AU 13 70628365 70628365 single base substitution A T intron_variant MELA-AU 13 70628376 70628376 single base substitution G A intron_variant MELA-AU 13 70628423 70628423 single base substitution A T intron_variant MELA-AU 13 70628426 70628426 single base substitution G A intron_variant MELA-AU 13 70628892 70628892 single base substitution G A intron_variant MELA-AU 13 70629041 70629041 single base substitution G A intron_variant MELA-AU 13 70629099 70629099 single base substitution C A intron_variant MELA-AU 13 70629271 70629271 single base substitution C T intron_variant MELA-AU 13 70629286 70629286 single base substitution A T intron_variant MELA-AU 13 70629304 70629304 single base substitution C T intron_variant MELA-AU 13 70629344 70629344 single base substitution C T intron_variant MELA-AU 13 70629425 70629425 single base substitution G A intron_variant MELA-AU 13 70629460 70629460 single base substitution C T intron_variant MELA-AU 13 70629485 70629485 single base substitution G A intron_variant MELA-AU 13 70629502 70629502 single base substitution A G intron_variant MELA-AU 13 70629969 70629969 single base substitution A T intron_variant MELA-AU 13 70630204 70630204 single base substitution C T intron_variant MELA-AU 13 70630232 70630232 single base substitution A C intron_variant MELA-AU 13 70630289 70630289 single base substitution C T intron_variant MELA-AU 13 70630293 70630293 single base substitution G A intron_variant MELA-AU 13 70630398 70630398 single base substitution G A intron_variant MELA-AU 13 70630498 70630498 single base substitution G A intron_variant MELA-AU 13 70630664 70630664 single base substitution C T intron_variant MELA-AU 13 70630825 70630825 single base substitution G A intron_variant MELA-AU 13 70630858 70630858 single base substitution G A intron_variant MELA-AU 13 70630859 70630859 single base substitution G A intron_variant MELA-AU 13 70630916 70630916 single base substitution G A intron_variant MELA-AU 13 70630966 70630966 single base substitution G A intron_variant MELA-AU 13 70631002 70631002 single base substitution A G intron_variant MELA-AU 13 70631044 70631044 single base substitution A T intron_variant MELA-AU 13 70631079 70631079 single base substitution G A intron_variant MELA-AU 13 70631110 70631110 single base substitution G A intron_variant MELA-AU 13 70631150 70631150 single base substitution C T intron_variant MELA-AU 13 70631361 70631361 single base substitution C T intron_variant MELA-AU 13 70631489 70631489 single base substitution A G intron_variant MELA-AU 13 70631527 70631527 single base substitution C T intron_variant MELA-AU 13 70631537 70631537 single base substitution G A intron_variant MELA-AU 13 70631934 70631934 single base substitution A G intron_variant MELA-AU 13 70632517 70632517 single base substitution G A intron_variant MELA-AU 13 70632577 70632577 single base substitution G A intron_variant MELA-AU 13 70632655 70632655 single base substitution G A intron_variant MELA-AU 13 70632926 70632926 single base substitution T C intron_variant MELA-AU 13 70633145 70633145 single base substitution G A intron_variant MELA-AU 13 70633155 70633155 single base substitution G T intron_variant MELA-AU 13 70633269 70633269 single base substitution G A intron_variant MELA-AU 13 70633340 70633340 single base substitution G A intron_variant MELA-AU 13 70633702 70633702 single base substitution G A intron_variant MELA-AU 13 70633738 70633738 single base substitution T G intron_variant MELA-AU 13 70633916 70633916 single base substitution G A intron_variant MELA-AU 13 70634036 70634036 single base substitution G A intron_variant MELA-AU 13 70634061 70634061 single base substitution C T intron_variant MELA-AU 13 70634123 70634123 single base substitution G A intron_variant MELA-AU 13 70634174 70634174 single base substitution G A intron_variant MELA-AU 13 70634358 70634358 single base substitution C T intron_variant MELA-AU 13 70634518 70634518 single base substitution G T intron_variant MELA-AU 13 70634736 70634736 single base substitution G A intron_variant MELA-AU 13 70634907 70634907 single base substitution G A intron_variant MELA-AU 13 70634915 70634915 single base substitution T C intron_variant MELA-AU 13 70635048 70635048 single base substitution C T intron_variant MELA-AU 13 70635173 70635173 single base substitution G A intron_variant MELA-AU 13 70635185 70635185 single base substitution T A intron_variant MELA-AU 13 70635384 70635384 single base substitution T A intron_variant MELA-AU 13 70635694 70635694 single base substitution C T intron_variant MELA-AU 13 70635766 70635766 single base substitution C T intron_variant MELA-AU 13 70635818 70635818 single base substitution G A intron_variant MELA-AU 13 70635872 70635872 single base substitution C T intron_variant MELA-AU 13 70636234 70636234 single base substitution C T intron_variant MELA-AU 13 70636801 70636801 single base substitution C T intron_variant MELA-AU 13 70637057 70637057 single base substitution G A intron_variant MELA-AU 13 70637115 70637115 single base substitution T C intron_variant MELA-AU 13 70637360 70637360 single base substitution A T intron_variant MELA-AU 13 70637542 70637542 single base substitution C T intron_variant MELA-AU 13 70637794 70637794 single base substitution G A intron_variant MELA-AU 13 70638126 70638126 single base substitution C T intron_variant MELA-AU 13 70638215 70638215 single base substitution G T intron_variant MELA-AU 13 70638352 70638352 single base substitution C T intron_variant MELA-AU 13 70638879 70638879 single base substitution C T intron_variant MELA-AU 13 70638896 70638896 single base substitution G A intron_variant MELA-AU 13 70638928 70638928 single base substitution G A intron_variant MELA-AU 13 70639169 70639169 single base substitution G A intron_variant MELA-AU 13 70639478 70639478 single base substitution C A intron_variant MELA-AU 13 70640335 70640335 single base substitution C T intron_variant MELA-AU 13 70640454 70640454 single base substitution G A intron_variant MELA-AU 13 70640751 70640751 single base substitution C A intron_variant MELA-AU 13 70640769 70640769 single base substitution G A intron_variant MELA-AU 13 70640777 70640777 single base substitution T A intron_variant MELA-AU 13 70640858 70640858 single base substitution G A intron_variant MELA-AU 13 70641047 70641047 single base substitution C T intron_variant MELA-AU 13 70641186 70641186 single base substitution G A intron_variant MELA-AU 13 70641307 70641307 single base substitution A T intron_variant MELA-AU 13 70641419 70641419 single base substitution A T intron_variant MELA-AU 13 70641481 70641481 single base substitution C T intron_variant MELA-AU 13 70641497 70641497 single base substitution T A intron_variant MELA-AU 13 70641582 70641582 single base substitution T C intron_variant MELA-AU 13 70641617 70641617 single base substitution G A intron_variant MELA-AU 13 70641688 70641688 single base substitution C T intron_variant MELA-AU 13 70641692 70641692 single base substitution C T intron_variant MELA-AU 13 70641725 70641725 single base substitution G A intron_variant MELA-AU 13 70641829 70641829 single base substitution C T intron_variant MELA-AU 13 70642097 70642097 single base substitution C T intron_variant MELA-AU 13 70642271 70642271 single base substitution A G intron_variant MELA-AU 13 70642278 70642278 single base substitution C T intron_variant MELA-AU 13 70642862 70642862 single base substitution A T intron_variant MELA-AU 13 70642902 70642902 single base substitution C T intron_variant MELA-AU 13 70643229 70643229 single base substitution G A intron_variant MELA-AU 13 70643467 70643467 single base substitution G A intron_variant MELA-AU 13 70643507 70643507 single base substitution C A intron_variant MELA-AU 13 70643839 70643839 single base substitution G A intron_variant MELA-AU 13 70643888 70643888 single base substitution G A intron_variant MELA-AU 13 70643990 70643990 single base substitution G A intron_variant MELA-AU 13 70643994 70643994 single base substitution A G intron_variant MELA-AU 13 70643999 70643999 single base substitution T A intron_variant MELA-AU 13 70644030 70644030 single base substitution G A intron_variant MELA-AU 13 70644043 70644043 single base substitution G T intron_variant MELA-AU 13 70644219 70644219 single base substitution G A intron_variant MELA-AU 13 70644306 70644306 single base substitution G A intron_variant MELA-AU 13 70644524 70644524 single base substitution G A intron_variant MELA-AU 13 70644577 70644577 single base substitution G A intron_variant MELA-AU 13 70644590 70644590 single base substitution C T intron_variant MELA-AU 13 70644632 70644632 single base substitution T C intron_variant MELA-AU 13 70644667 70644667 single base substitution G A intron_variant MELA-AU 13 70644760 70644760 single base substitution G A intron_variant MELA-AU 13 70644806 70644806 single base substitution G A intron_variant MELA-AU 13 70644832 70644832 single base substitution A G intron_variant MELA-AU 13 70644847 70644847 single base substitution T A intron_variant MELA-AU 13 70644898 70644898 single base substitution T C intron_variant MELA-AU 13 70644905 70644905 single base substitution G A intron_variant MELA-AU 13 70644984 70644984 single base substitution G A intron_variant MELA-AU 13 70645146 70645146 single base substitution G A intron_variant MELA-AU 13 70645174 70645174 single base substitution G C intron_variant MELA-AU 13 70645262 70645263 multiple base substitution (>=2bp and <=200bp) AA CC intron_variant MELA-AU 13 70645533 70645533 single base substitution C A intron_variant MELA-AU 13 70645725 70645725 single base substitution G A intron_variant MELA-AU 13 70645875 70645875 single base substitution G A intron_variant MELA-AU 13 70645950 70645950 single base substitution G A intron_variant MELA-AU 13 70646241 70646241 single base substitution A T intron_variant MELA-AU 13 70646586 70646586 single base substitution C T intron_variant MELA-AU 13 70646619 70646619 single base substitution G A intron_variant MELA-AU 13 70646663 70646663 single base substitution G A intron_variant MELA-AU 13 70647051 70647051 single base substitution C T intron_variant MELA-AU 13 70647301 70647301 single base substitution C T intron_variant MELA-AU 13 70647383 70647383 single base substitution C T intron_variant MELA-AU 13 70647392 70647392 single base substitution G A intron_variant MELA-AU 13 70647521 70647521 single base substitution C T intron_variant MELA-AU 13 70647731 70647731 single base substitution G A intron_variant MELA-AU 13 70647896 70647896 single base substitution G A intron_variant MELA-AU 13 70648065 70648065 single base substitution C T intron_variant MELA-AU 13 70648093 70648093 single base substitution G A intron_variant MELA-AU 13 70648433 70648433 single base substitution C T intron_variant MELA-AU 13 70648461 70648461 single base substitution T C intron_variant MELA-AU 13 70648523 70648523 single base substitution G A intron_variant MELA-AU 13 70648621 70648621 single base substitution G A intron_variant MELA-AU 13 70648694 70648694 single base substitution C T intron_variant MELA-AU 13 70648803 70648803 single base substitution C T intron_variant MELA-AU 13 70648902 70648902 single base substitution C T intron_variant MELA-AU 13 70648951 70648951 single base substitution C T intron_variant MELA-AU 13 70649026 70649026 single base substitution C T intron_variant MELA-AU 13 70649120 70649120 single base substitution C T intron_variant MELA-AU 13 70649404 70649404 single base substitution A C intron_variant MELA-AU 13 70649504 70649504 single base substitution G A intron_variant MELA-AU 13 70649890 70649890 single base substitution C T intron_variant MELA-AU 13 70649892 70649892 single base substitution C T intron_variant MELA-AU 13 70649938 70649938 single base substitution T G intron_variant MELA-AU 13 70649939 70649939 single base substitution G A intron_variant MELA-AU 13 70650038 70650038 single base substitution G A intron_variant MELA-AU 13 70650232 70650232 single base substitution C G intron_variant MELA-AU 13 70651149 70651149 single base substitution C T intron_variant MELA-AU 13 70651207 70651207 single base substitution A T intron_variant MELA-AU 13 70651321 70651321 single base substitution C T intron_variant MELA-AU 13 70651659 70651659 single base substitution G A intron_variant MELA-AU 13 70651782 70651782 single base substitution G A intron_variant MELA-AU 13 70651964 70651964 single base substitution T A intron_variant MELA-AU 13 70652128 70652128 single base substitution C T intron_variant MELA-AU 13 70652580 70652580 single base substitution C T intron_variant MELA-AU 13 70652813 70652813 single base substitution C A intron_variant MELA-AU 13 70652892 70652892 single base substitution A G intron_variant MELA-AU 13 70653332 70653332 single base substitution C T intron_variant MELA-AU 13 70653468 70653468 single base substitution C T intron_variant MELA-AU 13 70653568 70653568 single base substitution A T intron_variant MELA-AU 13 70653591 70653591 single base substitution C T intron_variant MELA-AU 13 70653830 70653830 single base substitution C T intron_variant MELA-AU 13 70653838 70653838 single base substitution C T intron_variant MELA-AU 13 70653873 70653873 single base substitution C G intron_variant MELA-AU 13 70654015 70654015 single base substitution T A intron_variant MELA-AU 13 70654020 70654020 single base substitution C T intron_variant MELA-AU 13 70654038 70654038 single base substitution T A intron_variant MELA-AU 13 70654161 70654161 single base substitution G A intron_variant MELA-AU 13 70654354 70654354 single base substitution G A intron_variant MELA-AU 13 70654473 70654473 single base substitution G A intron_variant MELA-AU 13 70654499 70654499 single base substitution G A intron_variant MELA-AU 13 70654514 70654514 single base substitution G A intron_variant MELA-AU 13 70654754 70654754 single base substitution G A intron_variant MELA-AU 13 70654896 70654896 single base substitution T A intron_variant MELA-AU 13 70654947 70654947 single base substitution C T intron_variant MELA-AU 13 70655150 70655150 single base substitution C T intron_variant MELA-AU 13 70655160 70655160 single base substitution A C intron_variant MELA-AU 13 70655493 70655493 single base substitution G A intron_variant MELA-AU 13 70655767 70655767 single base substitution C T intron_variant MELA-AU 13 70655821 70655821 single base substitution C T intron_variant MELA-AU 13 70656020 70656020 single base substitution G A intron_variant MELA-AU 13 70656086 70656086 single base substitution G A intron_variant MELA-AU 13 70656110 70656110 single base substitution G A intron_variant MELA-AU 13 70656111 70656111 single base substitution G A intron_variant MELA-AU 13 70656210 70656210 single base substitution C T intron_variant MELA-AU 13 70656385 70656385 single base substitution G A intron_variant MELA-AU 13 70656632 70656632 single base substitution C T intron_variant MELA-AU 13 70656770 70656770 single base substitution G A intron_variant MELA-AU 13 70656882 70656882 single base substitution G T intron_variant MELA-AU 13 70656954 70656954 single base substitution C T intron_variant MELA-AU 13 70657111 70657111 single base substitution G A intron_variant MELA-AU 13 70657384 70657384 single base substitution G A intron_variant MELA-AU 13 70657981 70657981 single base substitution C T intron_variant MELA-AU 13 70658007 70658007 single base substitution C T intron_variant MELA-AU 13 70658021 70658021 single base substitution T A intron_variant MELA-AU 13 70658824 70658824 single base substitution G A intron_variant MELA-AU 13 70658860 70658860 single base substitution G A intron_variant MELA-AU 13 70659986 70659986 single base substitution C T intron_variant MELA-AU 13 70660692 70660692 single base substitution G A intron_variant MELA-AU 13 70660850 70660850 single base substitution T G intron_variant MELA-AU 13 70661026 70661026 single base substitution A G intron_variant MELA-AU 13 70661096 70661096 single base substitution G A intron_variant MELA-AU 13 70661317 70661317 single base substitution G A intron_variant MELA-AU 13 70661594 70661594 single base substitution G A intron_variant MELA-AU 13 70661654 70661654 single base substitution G A intron_variant MELA-AU 13 70661704 70661704 single base substitution G A intron_variant MELA-AU 13 70662131 70662131 single base substitution A G intron_variant MELA-AU 13 70662192 70662192 single base substitution T A intron_variant MELA-AU 13 70662230 70662230 single base substitution T G intron_variant MELA-AU 13 70662242 70662242 single base substitution C T intron_variant MELA-AU 13 70662273 70662273 single base substitution G A intron_variant MELA-AU 13 70662828 70662828 single base substitution A T intron_variant MELA-AU 13 70662995 70662995 single base substitution A T intron_variant MELA-AU 13 70663285 70663285 single base substitution C T intron_variant MELA-AU 13 70663760 70663760 single base substitution A C intron_variant MELA-AU 13 70664761 70664761 single base substitution G A intron_variant MELA-AU 13 70665015 70665015 single base substitution G A intron_variant MELA-AU 13 70665437 70665437 single base substitution C T intron_variant MELA-AU 13 70665672 70665672 single base substitution C T intron_variant MELA-AU 13 70666044 70666044 single base substitution C T intron_variant MELA-AU 13 70666254 70666254 single base substitution A T intron_variant MELA-AU 13 70666624 70666624 single base substitution C T intron_variant MELA-AU 13 70666930 70666930 single base substitution C T intron_variant MELA-AU 13 70667148 70667148 single base substitution A T intron_variant MELA-AU 13 70667270 70667270 single base substitution T A intron_variant MELA-AU 13 70667328 70667328 single base substitution G A intron_variant MELA-AU 13 70667755 70667755 single base substitution G A intron_variant MELA-AU 13 70667903 70667903 single base substitution A C intron_variant MELA-AU 13 70667914 70667914 single base substitution C T intron_variant MELA-AU 13 70667995 70667995 single base substitution T C intron_variant MELA-AU 13 70668201 70668201 single base substitution C T intron_variant MELA-AU 13 70668365 70668365 single base substitution G A intron_variant MELA-AU 13 70668390 70668390 single base substitution C T intron_variant MELA-AU 13 70668412 70668412 single base substitution C T intron_variant MELA-AU 13 70668543 70668544 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 13 70668551 70668551 single base substitution T C intron_variant MELA-AU 13 70669313 70669313 single base substitution G A intron_variant MELA-AU 13 70669322 70669322 single base substitution G A intron_variant MELA-AU 13 70669333 70669333 single base substitution G A intron_variant MELA-AU 13 70669756 70669756 single base substitution C T intron_variant MELA-AU 13 70669964 70669964 single base substitution C T intron_variant MELA-AU 13 70669966 70669966 single base substitution C A intron_variant MELA-AU 13 70670036 70670036 single base substitution C T intron_variant MELA-AU 13 70670162 70670162 single base substitution C T intron_variant MELA-AU 13 70670905 70670905 single base substitution C A intron_variant MELA-AU 13 70670919 70670919 single base substitution G A intron_variant MELA-AU 13 70670922 70670922 single base substitution G A intron_variant MELA-AU 13 70671135 70671135 single base substitution G A intron_variant MELA-AU 13 70671407 70671407 single base substitution T C intron_variant MELA-AU 13 70671423 70671423 single base substitution G A intron_variant MELA-AU 13 70671493 70671493 single base substitution G A intron_variant MELA-AU 13 70671757 70671757 single base substitution A T intron_variant MELA-AU 13 70671945 70671945 single base substitution A T intron_variant MELA-AU 13 70671992 70671992 single base substitution G A intron_variant MELA-AU 13 70672732 70672732 single base substitution G A intron_variant MELA-AU 13 70672786 70672786 single base substitution G A intron_variant MELA-AU 13 70673074 70673074 single base substitution G A intron_variant MELA-AU 13 70673923 70673923 single base substitution C T intron_variant MELA-AU 13 70673927 70673927 single base substitution C T intron_variant MELA-AU 13 70673986 70673986 single base substitution C T intron_variant MELA-AU 13 70674340 70674340 single base substitution C T intron_variant MELA-AU 13 70674374 70674374 single base substitution C T intron_variant MELA-AU 13 70674703 70674703 single base substitution G A intron_variant MELA-AU 13 70674791 70674791 single base substitution C T intron_variant MELA-AU 13 70674793 70674793 single base substitution A G intron_variant MELA-AU 13 70674827 70674827 single base substitution T C intron_variant MELA-AU 13 70675174 70675174 single base substitution A T intron_variant MELA-AU 13 70675185 70675185 single base substitution G A intron_variant MELA-AU 13 70675249 70675249 single base substitution A T intron_variant MELA-AU 13 70675441 70675441 single base substitution C T intron_variant MELA-AU 13 70675520 70675520 single base substitution G A intron_variant MELA-AU 13 70675689 70675689 single base substitution G T intron_variant MELA-AU 13 70675813 70675813 single base substitution G T intron_variant MELA-AU 13 70675895 70675895 single base substitution C T intron_variant MELA-AU 13 70676084 70676084 single base substitution A G intron_variant MELA-AU 13 70676445 70676445 single base substitution C T intron_variant MELA-AU 13 70676640 70676640 single base substitution G A intron_variant MELA-AU 13 70676872 70676872 single base substitution G A intron_variant MELA-AU 13 70677127 70677127 single base substitution C T intron_variant MELA-AU 13 70677212 70677212 single base substitution T A intron_variant MELA-AU 13 70677314 70677314 single base substitution G A intron_variant MELA-AU 13 70677400 70677400 single base substitution G A intron_variant MELA-AU 13 70677455 70677455 single base substitution G A intron_variant MELA-AU 13 70677755 70677755 single base substitution G A intron_variant MELA-AU 13 70677809 70677809 single base substitution G A intron_variant MELA-AU 13 70678217 70678217 single base substitution G A intron_variant MELA-AU 13 70678373 70678373 single base substitution G A intron_variant MELA-AU 13 70678473 70678473 single base substitution T C intron_variant MELA-AU 13 70678819 70678819 single base substitution G A intron_variant MELA-AU 13 70678989 70678989 single base substitution C T intron_variant MELA-AU 13 70679249 70679249 single base substitution C T intron_variant MELA-AU 13 70679586 70679586 single base substitution T A intron_variant MELA-AU 13 70679791 70679791 single base substitution T C intron_variant MELA-AU 13 70679805 70679805 single base substitution G A intron_variant MELA-AU 13 70679932 70679932 single base substitution C T intron_variant MELA-AU 13 70679977 70679977 single base substitution G A intron_variant MELA-AU 13 70680019 70680019 single base substitution C T intron_variant MELA-AU 13 70680399 70680399 single base substitution C T intron_variant MELA-AU 13 70680454 70680454 single base substitution C T intron_variant MELA-AU 13 70680684 70680684 single base substitution C T intron_variant MELA-AU 13 70680979 70680979 single base substitution C T intron_variant MELA-AU 13 70681282 70681282 single base substitution G A intron_variant MELA-AU 13 70681309 70681309 single base substitution G A intron_variant MELA-AU 13 70681322 70681322 single base substitution G A intron_variant MELA-AU 13 70681382 70681382 single base substitution C T synonymous_variant V150V 450G>A MELA-AU 13 70681382 70681382 single base substitution C T synonymous_variant V18V 54G>A MELA-AU 13 70681414 70681414 single base substitution C T missense_variant E140K 418G>A MELA-AU 13 70681414 70681414 single base substitution C T missense_variant E8K 22G>A MELA-AU 13 70681651 70681651 single base substitution C T 5_prime_UTR_variant MELA-AU 13 70681651 70681651 single base substitution C T missense_variant E61K 181G>A MELA-AU 13 70682244 70682244 single base substitution G A 5_prime_UTR_variant MELA-AU 13 70682244 70682244 single base substitution G A upstream_gene_variant MELA-AU 13 70682405 70682405 single base substitution C T 5_prime_UTR_variant MELA-AU 13 70682405 70682405 single base substitution C T upstream_gene_variant MELA-AU 13 70682414 70682414 single base substitution G A 5_prime_UTR_variant MELA-AU 13 70682414 70682414 single base substitution G A upstream_gene_variant MELA-AU 13 70682534 70682534 single base substitution G A 5_prime_UTR_variant MELA-AU 13 70682534 70682534 single base substitution G A upstream_gene_variant MELA-AU 13 70683144 70683144 single base substitution G A upstream_gene_variant MELA-AU 13 70683374 70683374 single base substitution G A upstream_gene_variant MELA-AU 13 70683618 70683618 single base substitution T A upstream_gene_variant MELA-AU 13 70683693 70683693 single base substitution T G upstream_gene_variant MELA-AU 13 70683899 70683899 single base substitution G A upstream_gene_variant MELA-AU 13 70683903 70683903 single base substitution C T upstream_gene_variant MELA-AU 13 70684041 70684041 single base substitution G A upstream_gene_variant MELA-AU 13 70684175 70684175 single base substitution C T upstream_gene_variant MELA-AU 13 70684229 70684229 single base substitution A T upstream_gene_variant MELA-AU 13 70684248 70684248 single base substitution G A upstream_gene_variant MELA-AU 13 70684256 70684256 single base substitution G A upstream_gene_variant MELA-AU 13 70684285 70684285 single base substitution G A upstream_gene_variant MELA-AU 13 70684503 70684503 single base substitution G A upstream_gene_variant MELA-AU 13 70684513 70684513 single base substitution C T upstream_gene_variant MELA-AU 13 70684881 70684881 single base substitution C T upstream_gene_variant MELA-AU 13 70685018 70685018 single base substitution A G upstream_gene_variant MELA-AU 13 70685274 70685274 single base substitution T A upstream_gene_variant MELA-AU 13 70685409 70685409 single base substitution G T upstream_gene_variant MELA-AU 13 70685422 70685422 single base substitution G A upstream_gene_variant MELA-AU 13 70685456 70685456 single base substitution G A upstream_gene_variant MELA-AU 13 70685768 70685768 single base substitution A C upstream_gene_variant MELA-AU 13 70685802 70685802 single base substitution C T upstream_gene_variant MELA-AU 13 70685838 70685838 single base substitution C T upstream_gene_variant MELA-AU 13 70685868 70685868 single base substitution C T upstream_gene_variant MELA-AU 13 70686172 70686173 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 13 70686353 70686353 single base substitution C T upstream_gene_variant MELA-AU 13 70686383 70686383 single base substitution A C upstream_gene_variant MELA-AU 13 70686463 70686463 single base substitution T C upstream_gene_variant MELA-AU 13 70686505 70686505 single base substitution T C upstream_gene_variant MELA-AU 13 70686597 70686597 single base substitution C T upstream_gene_variant MELA-AU 13 70686893 70686893 single base substitution G A upstream_gene_variant MELA-AU 13 70687078 70687078 single base substitution G A upstream_gene_variant MELA-AU 13 70687085 70687085 single base substitution C T upstream_gene_variant MELA-AU 13 70687225 70687225 single base substitution C T upstream_gene_variant MELA-AU 13 70687390 70687390 single base substitution G A upstream_gene_variant MELA-AU 13 70687479 70687479 single base substitution G A upstream_gene_variant MELA-AU 13 70687585 70687585 single base substitution G A upstream_gene_variant ORCA-IN 13 70272726 70272726 single base substitution A G downstream_gene_variant ORCA-IN 13 70273756 70273756 single base substitution G A downstream_gene_variant ORCA-IN 13 70276210 70276210 single base substitution C T intron_variant ORCA-IN 13 70281056 70281056 single base substitution G T intron_variant ORCA-IN 13 70286892 70286892 deletion of <=200bp G - intron_variant ORCA-IN 13 70286904 70286904 single base substitution T G intron_variant ORCA-IN 13 70294326 70294326 single base substitution C G intron_variant ORCA-IN 13 70297338 70297338 single base substitution G C intron_variant ORCA-IN 13 70297979 70297979 insertion of <=200bp - TC intron_variant ORCA-IN 13 70297980 70297980 insertion of <=200bp - C intron_variant ORCA-IN 13 70299435 70299435 single base substitution C A intron_variant ORCA-IN 13 70302782 70302782 deletion of <=200bp A - intron_variant ORCA-IN 13 70302939 70302939 insertion of <=200bp - A intron_variant ORCA-IN 13 70304400 70304401 deletion of <=200bp TG - intron_variant ORCA-IN 13 70304429 70304429 single base substitution G T intron_variant ORCA-IN 13 70314588 70314588 single base substitution C T stop_gained W387* 1161G>A ORCA-IN 13 70314588 70314588 single base substitution C T stop_gained W580* 1740G>A ORCA-IN 13 70314672 70314672 single base substitution T A missense_variant E359D 1077A>T ORCA-IN 13 70314672 70314672 single base substitution T A missense_variant E552D 1656A>T ORCA-IN 13 70314799 70314799 insertion of <=200bp - A intron_variant ORCA-IN 13 70323825 70323825 single base substitution G A intron_variant ORCA-IN 13 70327974 70327974 deletion of <=200bp A - intron_variant ORCA-IN 13 70329865 70329865 single base substitution C A intron_variant ORCA-IN 13 70338062 70338062 insertion of <=200bp - T intron_variant ORCA-IN 13 70340891 70340891 single base substitution G A intron_variant ORCA-IN 13 70345408 70345408 single base substitution C A intron_variant ORCA-IN 13 70345906 70345906 single base substitution C A intron_variant ORCA-IN 13 70346273 70346273 single base substitution G T intron_variant ORCA-IN 13 70349611 70349611 single base substitution C G intron_variant ORCA-IN 13 70350128 70350128 deletion of <=200bp A - intron_variant ORCA-IN 13 70352853 70352853 single base substitution T G intron_variant ORCA-IN 13 70359924 70359924 single base substitution C A intron_variant ORCA-IN 13 70361487 70361487 single base substitution G A intron_variant ORCA-IN 13 70371601 70371601 single base substitution T C intron_variant ORCA-IN 13 70377750 70377750 single base substitution T C intron_variant ORCA-IN 13 70379824 70379824 deletion of <=200bp A - intron_variant ORCA-IN 13 70382083 70382083 single base substitution A C intron_variant ORCA-IN 13 70385529 70385529 deletion of <=200bp A - intron_variant ORCA-IN 13 70393750 70393750 deletion of <=200bp A - intron_variant ORCA-IN 13 70399020 70399020 single base substitution T A intron_variant ORCA-IN 13 70400218 70400218 single base substitution G C intron_variant ORCA-IN 13 70402088 70402088 single base substitution A C intron_variant ORCA-IN 13 70402164 70402164 single base substitution C G intron_variant ORCA-IN 13 70407296 70407296 single base substitution C A intron_variant ORCA-IN 13 70407880 70407881 deletion of <=200bp TA - intron_variant ORCA-IN 13 70411304 70411304 single base substitution G T intron_variant ORCA-IN 13 70411803 70411804 deletion of <=200bp TA - intron_variant ORCA-IN 13 70413143 70413143 single base substitution G A missense_variant T267I 800C>T ORCA-IN 13 70413143 70413143 single base substitution G A missense_variant T460I 1379C>T ORCA-IN 13 70413251 70413251 single base substitution A C missense_variant L231R 692T>G ORCA-IN 13 70413251 70413251 single base substitution A C missense_variant L424R 1271T>G ORCA-IN 13 70414831 70414838 deletion of <=200bp TATGTATG - intron_variant ORCA-IN 13 70423031 70423031 single base substitution C A intron_variant ORCA-IN 13 70429195 70429195 single base substitution A G intron_variant ORCA-IN 13 70429465 70429465 single base substitution T C intron_variant ORCA-IN 13 70429469 70429469 single base substitution T C intron_variant ORCA-IN 13 70430958 70430958 single base substitution C G intron_variant ORCA-IN 13 70434880 70434880 single base substitution T A intron_variant ORCA-IN 13 70437338 70437338 insertion of <=200bp - T intron_variant ORCA-IN 13 70438214 70438214 deletion of <=200bp A - intron_variant ORCA-IN 13 70445859 70445859 deletion of <=200bp T - intron_variant ORCA-IN 13 70451169 70451169 deletion of <=200bp A - intron_variant ORCA-IN 13 70456484 70456484 single base substitution G T missense_variant D193E 579C>A ORCA-IN 13 70456484 70456484 single base substitution G T missense_variant D386E 1158C>A ORCA-IN 13 70462538 70462538 insertion of <=200bp - A intron_variant ORCA-IN 13 70463176 70463177 deletion of <=200bp AT - intron_variant ORCA-IN 13 70468724 70468724 single base substitution G A intron_variant ORCA-IN 13 70470803 70470803 deletion of <=200bp T - intron_variant ORCA-IN 13 70479431 70479431 single base substitution A T intron_variant ORCA-IN 13 70482858 70482858 single base substitution A G intron_variant ORCA-IN 13 70492646 70492646 deletion of <=200bp T - intron_variant ORCA-IN 13 70494598 70494598 deletion of <=200bp A - intron_variant ORCA-IN 13 70495452 70495452 single base substitution C G intron_variant ORCA-IN 13 70496053 70496053 insertion of <=200bp - T intron_variant ORCA-IN 13 70496470 70496470 single base substitution T G intron_variant ORCA-IN 13 70496883 70496883 single base substitution T A intron_variant ORCA-IN 13 70499814 70499814 single base substitution T A intron_variant ORCA-IN 13 70501231 70501231 single base substitution A C intron_variant ORCA-IN 13 70506716 70506716 single base substitution G T intron_variant ORCA-IN 13 70507894 70507894 single base substitution C T intron_variant ORCA-IN 13 70507931 70507931 single base substitution A G intron_variant ORCA-IN 13 70509094 70509094 single base substitution G A intron_variant ORCA-IN 13 70512090 70512090 single base substitution C T intron_variant ORCA-IN 13 70517910 70517910 single base substitution T A intron_variant ORCA-IN 13 70521161 70521168 deletion of <=200bp TGTGTGTG - intron_variant ORCA-IN 13 70521161 70521172 deletion of <=200bp TGTGTGTGTGTG - intron_variant ORCA-IN 13 70521170 70521170 insertion of <=200bp - T intron_variant ORCA-IN 13 70521174 70521174 deletion of <=200bp G - intron_variant ORCA-IN 13 70522227 70522227 deletion of <=200bp C - intron_variant ORCA-IN 13 70525409 70525409 single base substitution G A intron_variant ORCA-IN 13 70526382 70526382 single base substitution C T intron_variant ORCA-IN 13 70530149 70530149 insertion of <=200bp - AT intron_variant ORCA-IN 13 70546832 70546832 single base substitution C G intron_variant ORCA-IN 13 70549646 70549646 single base substitution T C intron_variant ORCA-IN 13 70549943 70549944 deletion of <=200bp CA - intron_variant ORCA-IN 13 70551290 70551290 insertion of <=200bp - A intron_variant ORCA-IN 13 70552867 70552867 single base substitution C A intron_variant ORCA-IN 13 70553310 70553311 deletion of <=200bp AT - intron_variant ORCA-IN 13 70557739 70557739 deletion of <=200bp A - intron_variant ORCA-IN 13 70561123 70561123 deletion of <=200bp T - intron_variant ORCA-IN 13 70567730 70567730 single base substitution C A intron_variant ORCA-IN 13 70569291 70569291 single base substitution C T intron_variant ORCA-IN 13 70574188 70574188 single base substitution C A intron_variant ORCA-IN 13 70575746 70575746 single base substitution T C intron_variant ORCA-IN 13 70584439 70584439 single base substitution G T intron_variant ORCA-IN 13 70585024 70585024 insertion of <=200bp - A intron_variant ORCA-IN 13 70586644 70586644 single base substitution C A intron_variant ORCA-IN 13 70594677 70594677 single base substitution C G intron_variant ORCA-IN 13 70596412 70596413 deletion of <=200bp TT - intron_variant ORCA-IN 13 70596954 70596954 single base substitution C G intron_variant ORCA-IN 13 70606834 70606834 single base substitution G A intron_variant ORCA-IN 13 70612306 70612306 single base substitution A T intron_variant ORCA-IN 13 70613731 70613731 single base substitution C G intron_variant ORCA-IN 13 70620352 70620352 deletion of <=200bp A - intron_variant ORCA-IN 13 70621413 70621413 deletion of <=200bp A - intron_variant ORCA-IN 13 70623335 70623335 single base substitution G A intron_variant ORCA-IN 13 70626101 70626101 single base substitution C G intron_variant ORCA-IN 13 70640017 70640017 deletion of <=200bp A - intron_variant ORCA-IN 13 70642178 70642178 deletion of <=200bp A - intron_variant ORCA-IN 13 70648620 70648620 single base substitution T G intron_variant ORCA-IN 13 70652923 70652923 single base substitution T G intron_variant ORCA-IN 13 70653283 70653283 single base substitution A T intron_variant ORCA-IN 13 70660414 70660414 deletion of <=200bp A - intron_variant ORCA-IN 13 70661669 70661669 single base substitution A T intron_variant ORCA-IN 13 70661675 70661675 insertion of <=200bp - A intron_variant ORCA-IN 13 70672682 70672682 single base substitution G T intron_variant ORCA-IN 13 70673773 70673774 deletion of <=200bp TA - intron_variant ORCA-IN 13 70675780 70675780 single base substitution C G intron_variant OV-AU 13 70273080 70273080 single base substitution T A downstream_gene_variant OV-AU 13 70273157 70273157 single base substitution G T downstream_gene_variant OV-AU 13 70273720 70273720 single base substitution G A downstream_gene_variant OV-AU 13 70275014 70275014 single base substitution G T 3_prime_UTR_variant OV-AU 13 70275014 70275014 single base substitution G T downstream_gene_variant OV-AU 13 70280038 70280038 single base substitution A C intron_variant OV-AU 13 70290096 70290096 single base substitution C G intron_variant OV-AU 13 70290439 70290439 single base substitution T A intron_variant OV-AU 13 70297719 70297719 single base substitution T C intron_variant OV-AU 13 70298414 70298414 single base substitution T C intron_variant OV-AU 13 70298814 70298814 single base substitution G T intron_variant OV-AU 13 70300839 70300839 single base substitution A T intron_variant OV-AU 13 70301534 70301534 single base substitution A T intron_variant OV-AU 13 70303746 70303746 single base substitution G T intron_variant OV-AU 13 70304236 70304236 single base substitution G A intron_variant OV-AU 13 70304851 70304851 single base substitution A G intron_variant OV-AU 13 70305575 70305575 single base substitution T G intron_variant OV-AU 13 70305600 70305600 single base substitution C T intron_variant OV-AU 13 70307861 70307861 single base substitution A G intron_variant OV-AU 13 70309294 70309294 single base substitution A C intron_variant OV-AU 13 70310638 70310638 single base substitution G T intron_variant OV-AU 13 70311079 70311079 single base substitution G T intron_variant OV-AU 13 70312065 70312065 single base substitution C T intron_variant OV-AU 13 70316105 70316105 single base substitution C A intron_variant OV-AU 13 70318991 70318991 single base substitution T C intron_variant OV-AU 13 70319272 70319272 single base substitution T G intron_variant OV-AU 13 70322377 70322377 single base substitution G A intron_variant OV-AU 13 70331925 70331925 single base substitution T C intron_variant OV-AU 13 70332608 70332608 single base substitution C A intron_variant OV-AU 13 70334122 70334122 single base substitution C A intron_variant OV-AU 13 70340944 70340944 single base substitution A C intron_variant OV-AU 13 70347455 70347455 single base substitution T A intron_variant OV-AU 13 70348885 70348885 single base substitution T C intron_variant OV-AU 13 70349096 70349096 single base substitution C T intron_variant OV-AU 13 70349126 70349126 single base substitution T C intron_variant OV-AU 13 70351899 70351899 single base substitution C G intron_variant OV-AU 13 70357557 70357557 single base substitution G A intron_variant OV-AU 13 70357856 70357856 single base substitution G A intron_variant OV-AU 13 70360568 70360568 single base substitution G C intron_variant OV-AU 13 70365483 70365483 single base substitution A T intron_variant OV-AU 13 70365758 70365758 single base substitution A C intron_variant OV-AU 13 70374162 70374162 single base substitution C G intron_variant OV-AU 13 70376074 70376074 single base substitution C G intron_variant OV-AU 13 70377041 70377041 single base substitution A T intron_variant OV-AU 13 70379611 70379611 single base substitution T A intron_variant OV-AU 13 70385631 70385631 single base substitution G T intron_variant OV-AU 13 70389078 70389078 single base substitution G A intron_variant OV-AU 13 70390585 70390585 single base substitution G A intron_variant OV-AU 13 70391106 70391106 single base substitution A T intron_variant OV-AU 13 70397363 70397363 single base substitution C T intron_variant OV-AU 13 70397381 70397381 single base substitution T C intron_variant OV-AU 13 70398010 70398010 single base substitution A T intron_variant OV-AU 13 70403895 70403895 single base substitution C A intron_variant OV-AU 13 70407032 70407032 single base substitution C A intron_variant OV-AU 13 70407988 70407988 single base substitution T C intron_variant OV-AU 13 70408795 70408795 single base substitution C T intron_variant OV-AU 13 70409969 70409969 single base substitution G A intron_variant OV-AU 13 70411492 70411492 single base substitution T G intron_variant OV-AU 13 70411979 70411979 single base substitution C T intron_variant OV-AU 13 70417353 70417353 single base substitution C G intron_variant OV-AU 13 70417353 70417353 single base substitution C T intron_variant OV-AU 13 70418699 70418699 single base substitution T C intron_variant OV-AU 13 70421468 70421468 single base substitution T C intron_variant OV-AU 13 70421477 70421477 single base substitution G A intron_variant OV-AU 13 70422382 70422382 single base substitution G T intron_variant OV-AU 13 70427447 70427447 single base substitution T G intron_variant OV-AU 13 70429069 70429069 single base substitution A C intron_variant OV-AU 13 70431558 70431558 single base substitution G T intron_variant OV-AU 13 70433125 70433125 single base substitution C A intron_variant OV-AU 13 70434172 70434172 single base substitution A G intron_variant OV-AU 13 70435365 70435365 single base substitution G T intron_variant OV-AU 13 70438142 70438142 single base substitution A G intron_variant OV-AU 13 70439737 70439737 single base substitution G T intron_variant OV-AU 13 70439951 70439951 single base substitution C T intron_variant OV-AU 13 70452862 70452862 single base substitution A T intron_variant OV-AU 13 70456554 70456554 single base substitution G T missense_variant A170D 509C>A OV-AU 13 70456554 70456554 single base substitution G T missense_variant A363D 1088C>A OV-AU 13 70456617 70456617 single base substitution A G missense_variant M149T 446T>C OV-AU 13 70456617 70456617 single base substitution A G missense_variant M342T 1025T>C OV-AU 13 70470652 70470652 single base substitution A T intron_variant OV-AU 13 70476009 70476009 single base substitution A G intron_variant OV-AU 13 70480640 70480640 single base substitution G A intron_variant OV-AU 13 70482604 70482604 single base substitution C T intron_variant OV-AU 13 70488295 70488295 single base substitution G T intron_variant OV-AU 13 70489192 70489192 single base substitution A C intron_variant OV-AU 13 70499260 70499260 single base substitution C G intron_variant OV-AU 13 70500086 70500086 single base substitution T A intron_variant OV-AU 13 70503287 70503287 single base substitution C T intron_variant OV-AU 13 70519428 70519428 single base substitution C T intron_variant OV-AU 13 70522292 70522292 single base substitution A G intron_variant OV-AU 13 70530226 70530226 single base substitution T A intron_variant OV-AU 13 70530317 70530317 single base substitution A T intron_variant OV-AU 13 70539996 70539996 single base substitution A G intron_variant OV-AU 13 70545210 70545210 single base substitution T C intron_variant OV-AU 13 70549874 70549874 single base substitution T C intron_variant OV-AU 13 70549874 70549874 single base substitution T C synonymous_variant E186E 558A>G OV-AU 13 70553172 70553172 single base substitution T G intron_variant OV-AU 13 70553196 70553196 single base substitution G C intron_variant OV-AU 13 70557753 70557753 single base substitution G T intron_variant OV-AU 13 70567193 70567193 single base substitution A G intron_variant OV-AU 13 70569869 70569869 single base substitution G A intron_variant OV-AU 13 70570457 70570457 single base substitution A T intron_variant OV-AU 13 70573612 70573612 single base substitution T A intron_variant OV-AU 13 70573959 70573959 single base substitution C A intron_variant OV-AU 13 70574939 70574939 single base substitution T C intron_variant OV-AU 13 70578975 70578975 single base substitution G A intron_variant OV-AU 13 70583654 70583654 single base substitution A G intron_variant OV-AU 13 70585521 70585521 single base substitution C A intron_variant OV-AU 13 70586605 70586605 single base substitution T A intron_variant OV-AU 13 70588789 70588789 single base substitution T A intron_variant OV-AU 13 70588795 70588795 single base substitution A T intron_variant OV-AU 13 70594596 70594596 single base substitution G A intron_variant OV-AU 13 70596113 70596113 single base substitution T A intron_variant OV-AU 13 70596645 70596645 single base substitution T A intron_variant OV-AU 13 70600098 70600098 single base substitution A C intron_variant OV-AU 13 70610275 70610275 single base substitution A G intron_variant OV-AU 13 70612833 70612833 single base substitution C A intron_variant OV-AU 13 70613709 70613709 single base substitution T G intron_variant OV-AU 13 70619621 70619621 single base substitution T A intron_variant OV-AU 13 70621339 70621339 single base substitution A T intron_variant OV-AU 13 70629505 70629505 single base substitution A T intron_variant OV-AU 13 70630241 70630241 single base substitution A G intron_variant OV-AU 13 70632899 70632899 single base substitution A G intron_variant OV-AU 13 70633838 70633838 single base substitution G A intron_variant OV-AU 13 70642146 70642146 single base substitution C T intron_variant OV-AU 13 70642211 70642211 single base substitution C A intron_variant OV-AU 13 70642678 70642678 single base substitution T C intron_variant OV-AU 13 70644000 70644000 single base substitution G T intron_variant OV-AU 13 70649860 70649860 single base substitution C A intron_variant OV-AU 13 70650695 70650695 single base substitution A G intron_variant OV-AU 13 70654735 70654735 single base substitution T A intron_variant OV-AU 13 70663251 70663251 single base substitution A G intron_variant OV-AU 13 70666192 70666192 single base substitution G A intron_variant OV-AU 13 70666193 70666193 single base substitution A T intron_variant OV-AU 13 70666718 70666718 single base substitution T A intron_variant OV-AU 13 70669385 70669385 single base substitution G A intron_variant OV-AU 13 70669986 70669986 single base substitution C G intron_variant OV-AU 13 70673381 70673381 single base substitution A G intron_variant OV-AU 13 70675995 70675995 single base substitution A T intron_variant OV-AU 13 70678061 70678061 single base substitution T A intron_variant OV-AU 13 70679904 70679904 single base substitution C G intron_variant OV-AU 13 70680506 70680506 single base substitution G A intron_variant PACA-AU 13 70270538 70270538 single base substitution T A downstream_gene_variant PACA-AU 13 70276821 70276821 single base substitution A G intron_variant PACA-AU 13 70277215 70277215 single base substitution C T intron_variant PACA-AU 13 70277388 70277388 single base substitution G A intron_variant PACA-AU 13 70277667 70277667 single base substitution T C intron_variant PACA-AU 13 70279947 70279947 single base substitution C A intron_variant PACA-AU 13 70281637 70281637 single base substitution A G intron_variant PACA-AU 13 70283446 70283446 single base substitution C A intron_variant PACA-AU 13 70284837 70284837 single base substitution C G intron_variant PACA-AU 13 70285931 70285931 single base substitution G C intron_variant PACA-AU 13 70286163 70286163 single base substitution G A intron_variant PACA-AU 13 70290405 70290405 single base substitution C G intron_variant PACA-AU 13 70292604 70292604 single base substitution A G intron_variant PACA-AU 13 70294437 70294437 single base substitution A T intron_variant PACA-AU 13 70294477 70294477 single base substitution A T intron_variant PACA-AU 13 70294581 70294581 single base substitution A C intron_variant PACA-AU 13 70295757 70295757 single base substitution G T intron_variant PACA-AU 13 70297353 70297353 single base substitution T G intron_variant PACA-AU 13 70297977 70297977 insertion of <=200bp - TTTTC intron_variant PACA-AU 13 70297979 70297979 insertion of <=200bp - TTC intron_variant PACA-AU 13 70300397 70300397 single base substitution A G intron_variant PACA-AU 13 70300853 70300853 single base substitution C A intron_variant PACA-AU 13 70300890 70300890 single base substitution C T intron_variant PACA-AU 13 70306372 70306376 deletion of <=200bp TAACG - intron_variant PACA-AU 13 70306879 70306879 single base substitution G A intron_variant PACA-AU 13 70307266 70307266 single base substitution C T intron_variant PACA-AU 13 70308889 70308889 single base substitution C A intron_variant PACA-AU 13 70311915 70311915 single base substitution G A intron_variant PACA-AU 13 70312629 70312629 single base substitution C T intron_variant PACA-AU 13 70314477 70314477 single base substitution C A intron_variant PACA-AU 13 70315432 70315440 deletion of <=200bp TGTAAATAT - intron_variant PACA-AU 13 70316554 70316554 single base substitution C A intron_variant PACA-AU 13 70316557 70316557 single base substitution C T intron_variant PACA-AU 13 70317570 70317570 single base substitution G T intron_variant PACA-AU 13 70321449 70321449 single base substitution C T intron_variant PACA-AU 13 70322053 70322053 single base substitution C G intron_variant PACA-AU 13 70323131 70323131 insertion of <=200bp - A intron_variant PACA-AU 13 70323926 70323926 single base substitution T C intron_variant PACA-AU 13 70324603 70324603 single base substitution T G intron_variant PACA-AU 13 70326487 70326487 single base substitution A T intron_variant PACA-AU 13 70327864 70327864 single base substitution C G intron_variant PACA-AU 13 70330759 70330759 single base substitution T A intron_variant PACA-AU 13 70331679 70331679 single base substitution G A intron_variant PACA-AU 13 70333141 70333141 single base substitution C G intron_variant PACA-AU 13 70333170 70333170 single base substitution G A intron_variant PACA-AU 13 70333935 70333935 single base substitution G A intron_variant PACA-AU 13 70342934 70342934 single base substitution C A intron_variant PACA-AU 13 70343845 70343845 single base substitution C T intron_variant PACA-AU 13 70345224 70345224 single base substitution G A intron_variant PACA-AU 13 70345419 70345419 single base substitution A G intron_variant PACA-AU 13 70345917 70345917 single base substitution C T intron_variant PACA-AU 13 70346523 70346523 single base substitution C A intron_variant PACA-AU 13 70348441 70348452 deletion of <=200bp TGCAAAACTACA - intron_variant PACA-AU 13 70351300 70351300 single base substitution G A intron_variant PACA-AU 13 70353257 70353257 single base substitution G A intron_variant PACA-AU 13 70354067 70354067 single base substitution G T intron_variant PACA-AU 13 70355247 70355247 single base substitution G T intron_variant PACA-AU 13 70356515 70356515 single base substitution G A intron_variant PACA-AU 13 70358043 70358043 single base substitution T A intron_variant PACA-AU 13 70362803 70362803 insertion of <=200bp - AAAA intron_variant PACA-AU 13 70364387 70364387 single base substitution C A intron_variant PACA-AU 13 70368746 70368746 insertion of <=200bp - A intron_variant PACA-AU 13 70369968 70369968 single base substitution T C intron_variant PACA-AU 13 70370426 70370426 single base substitution G T intron_variant PACA-AU 13 70372836 70372836 single base substitution T G intron_variant PACA-AU 13 70373233 70373233 single base substitution A C intron_variant PACA-AU 13 70373590 70373590 single base substitution G A intron_variant PACA-AU 13 70374043 70374043 single base substitution C A intron_variant PACA-AU 13 70375950 70375950 single base substitution G T intron_variant PACA-AU 13 70377087 70377087 single base substitution C T intron_variant PACA-AU 13 70377516 70377516 single base substitution C G intron_variant PACA-AU 13 70381842 70381842 single base substitution C T intron_variant PACA-AU 13 70381856 70381856 single base substitution A T intron_variant PACA-AU 13 70382065 70382065 single base substitution C T intron_variant PACA-AU 13 70384604 70384604 single base substitution A C intron_variant PACA-AU 13 70384636 70384636 single base substitution C T intron_variant PACA-AU 13 70390057 70390057 single base substitution A C intron_variant PACA-AU 13 70390480 70390480 single base substitution C T intron_variant PACA-AU 13 70391340 70391340 single base substitution A C intron_variant PACA-AU 13 70393152 70393152 single base substitution C G intron_variant PACA-AU 13 70394867 70394874 deletion of <=200bp TGTTAGGT - intron_variant PACA-AU 13 70395690 70395690 single base substitution G A intron_variant PACA-AU 13 70397414 70397414 single base substitution T C intron_variant PACA-AU 13 70398353 70398353 single base substitution C T intron_variant PACA-AU 13 70400131 70400131 single base substitution G A intron_variant PACA-AU 13 70400490 70400490 single base substitution G T intron_variant PACA-AU 13 70406361 70406361 single base substitution C A intron_variant PACA-AU 13 70407473 70407473 insertion of <=200bp - A intron_variant PACA-AU 13 70411384 70411384 single base substitution A C intron_variant PACA-AU 13 70411823 70411823 single base substitution C T intron_variant PACA-AU 13 70412844 70412844 single base substitution T C intron_variant PACA-AU 13 70413571 70413571 single base substitution C G intron_variant PACA-AU 13 70414822 70414822 single base substitution A G intron_variant PACA-AU 13 70415368 70415371 deletion of <=200bp AAAT - intron_variant PACA-AU 13 70416778 70416778 single base substitution A T intron_variant PACA-AU 13 70425736 70425736 single base substitution A T intron_variant PACA-AU 13 70425992 70425992 single base substitution A G intron_variant PACA-AU 13 70426040 70426040 single base substitution A G intron_variant PACA-AU 13 70426166 70426166 single base substitution G T intron_variant PACA-AU 13 70427606 70427606 single base substitution C T intron_variant PACA-AU 13 70428889 70428889 single base substitution C G intron_variant PACA-AU 13 70431060 70431060 single base substitution C T intron_variant PACA-AU 13 70432243 70432243 single base substitution A G intron_variant PACA-AU 13 70432936 70432936 single base substitution T C intron_variant PACA-AU 13 70436137 70436137 single base substitution T G intron_variant PACA-AU 13 70436138 70436138 single base substitution A C intron_variant PACA-AU 13 70439605 70439605 single base substitution G A intron_variant PACA-AU 13 70442279 70442279 single base substitution C A intron_variant PACA-AU 13 70443085 70443085 single base substitution T G intron_variant PACA-AU 13 70444162 70444162 single base substitution C T intron_variant PACA-AU 13 70445315 70445315 single base substitution C T intron_variant PACA-AU 13 70446410 70446410 single base substitution C T intron_variant PACA-AU 13 70446468 70446468 single base substitution C T intron_variant PACA-AU 13 70446652 70446652 single base substitution C A intron_variant PACA-AU 13 70446795 70446795 single base substitution C T intron_variant PACA-AU 13 70447063 70447063 single base substitution C T intron_variant PACA-AU 13 70447137 70447137 single base substitution C G intron_variant PACA-AU 13 70447274 70447274 single base substitution C T intron_variant PACA-AU 13 70448338 70448338 single base substitution T C intron_variant PACA-AU 13 70450261 70450261 single base substitution G A intron_variant PACA-AU 13 70450999 70450999 single base substitution G A intron_variant PACA-AU 13 70452849 70452849 single base substitution G T intron_variant PACA-AU 13 70455884 70455884 single base substitution A G intron_variant PACA-AU 13 70456102 70456102 single base substitution T C intron_variant PACA-AU 13 70457575 70457575 single base substitution T A intron_variant PACA-AU 13 70459809 70459809 single base substitution T A intron_variant PACA-AU 13 70461069 70461069 single base substitution T C intron_variant PACA-AU 13 70461472 70461472 single base substitution C A intron_variant PACA-AU 13 70461901 70461901 single base substitution A T intron_variant PACA-AU 13 70461904 70461904 single base substitution C G intron_variant PACA-AU 13 70462822 70462822 single base substitution T C intron_variant PACA-AU 13 70462823 70462823 single base substitution G C intron_variant PACA-AU 13 70463006 70463006 single base substitution A T intron_variant PACA-AU 13 70464053 70464053 single base substitution C T intron_variant PACA-AU 13 70464776 70464776 single base substitution A G intron_variant PACA-AU 13 70466962 70466962 single base substitution G T intron_variant PACA-AU 13 70468719 70468719 single base substitution C A intron_variant PACA-AU 13 70470164 70470164 single base substitution T C intron_variant PACA-AU 13 70472243 70472243 single base substitution G C intron_variant PACA-AU 13 70473516 70473516 single base substitution C A intron_variant PACA-AU 13 70473837 70473837 single base substitution G A intron_variant PACA-AU 13 70473976 70473976 single base substitution A G intron_variant PACA-AU 13 70474797 70474797 single base substitution T C intron_variant PACA-AU 13 70475762 70475762 single base substitution A C intron_variant PACA-AU 13 70476811 70476811 single base substitution C T intron_variant PACA-AU 13 70476821 70476821 single base substitution G T intron_variant PACA-AU 13 70478078 70478078 single base substitution T C intron_variant PACA-AU 13 70479416 70479416 single base substitution G C intron_variant PACA-AU 13 70480697 70480697 single base substitution T G intron_variant PACA-AU 13 70482347 70482347 single base substitution C T intron_variant PACA-AU 13 70484753 70484753 single base substitution T G intron_variant PACA-AU 13 70485257 70485257 single base substitution T C intron_variant PACA-AU 13 70486474 70486474 single base substitution G A intron_variant PACA-AU 13 70486687 70486687 single base substitution A T intron_variant PACA-AU 13 70487056 70487056 single base substitution A G intron_variant PACA-AU 13 70489649 70489649 single base substitution C T intron_variant PACA-AU 13 70494976 70494976 single base substitution C T intron_variant PACA-AU 13 70495842 70495842 single base substitution T C intron_variant PACA-AU 13 70495943 70495943 single base substitution C T intron_variant PACA-AU 13 70505635 70505635 single base substitution G T intron_variant PACA-AU 13 70506219 70506219 single base substitution C A intron_variant PACA-AU 13 70508931 70508931 single base substitution T G intron_variant PACA-AU 13 70509141 70509141 single base substitution C A intron_variant PACA-AU 13 70512931 70512931 single base substitution C A intron_variant PACA-AU 13 70514069 70514069 single base substitution C A intron_variant PACA-AU 13 70517220 70517220 single base substitution T A intron_variant PACA-AU 13 70517572 70517572 single base substitution G A intron_variant PACA-AU 13 70518737 70518737 single base substitution G T intron_variant PACA-AU 13 70519598 70519598 single base substitution A G intron_variant PACA-AU 13 70521473 70521473 single base substitution T C intron_variant PACA-AU 13 70524496 70524496 insertion of <=200bp - CATT intron_variant PACA-AU 13 70524609 70524609 single base substitution C A intron_variant PACA-AU 13 70524610 70524610 single base substitution C A intron_variant PACA-AU 13 70524737 70524737 single base substitution T A intron_variant PACA-AU 13 70527459 70527459 single base substitution A G intron_variant PACA-AU 13 70527869 70527869 single base substitution A T intron_variant PACA-AU 13 70529571 70529571 single base substitution A T intron_variant PACA-AU 13 70531720 70531720 single base substitution A C intron_variant PACA-AU 13 70532125 70532125 single base substitution G A intron_variant PACA-AU 13 70534327 70534327 single base substitution C A intron_variant PACA-AU 13 70534612 70534612 single base substitution G A intron_variant PACA-AU 13 70535961 70535961 insertion of <=200bp - TTTG intron_variant PACA-AU 13 70536903 70536903 single base substitution A T intron_variant PACA-AU 13 70538203 70538203 single base substitution T C intron_variant PACA-AU 13 70538743 70538743 single base substitution A T intron_variant PACA-AU 13 70544505 70544505 single base substitution T C intron_variant PACA-AU 13 70545890 70545893 deletion of <=200bp TATC - intron_variant PACA-AU 13 70548308 70548308 single base substitution G A intron_variant PACA-AU 13 70549109 70549109 single base substitution C G intron_variant PACA-AU 13 70549733 70549733 single base substitution T C intron_variant PACA-AU 13 70550734 70550734 single base substitution C A intron_variant PACA-AU 13 70550898 70550898 insertion of <=200bp - A intron_variant PACA-AU 13 70551095 70551095 single base substitution A G intron_variant PACA-AU 13 70552158 70552158 single base substitution C A intron_variant PACA-AU 13 70553001 70553001 single base substitution T G intron_variant PACA-AU 13 70555432 70555432 single base substitution G T intron_variant PACA-AU 13 70558478 70558478 single base substitution C T intron_variant PACA-AU 13 70558785 70558785 deletion of <=200bp T - intron_variant PACA-AU 13 70559732 70559732 single base substitution G A intron_variant PACA-AU 13 70560148 70560148 single base substitution C T intron_variant PACA-AU 13 70560369 70560369 single base substitution G A intron_variant PACA-AU 13 70560729 70560729 single base substitution T C intron_variant PACA-AU 13 70560980 70560982 deletion of <=200bp TTA - intron_variant PACA-AU 13 70561299 70561299 single base substitution G A intron_variant PACA-AU 13 70562224 70562224 single base substitution C T intron_variant PACA-AU 13 70563440 70563440 single base substitution G T intron_variant PACA-AU 13 70563449 70563449 single base substitution G A intron_variant PACA-AU 13 70565921 70565921 single base substitution T C intron_variant PACA-AU 13 70568755 70568755 single base substitution G T intron_variant PACA-AU 13 70568988 70568988 single base substitution T A intron_variant PACA-AU 13 70569917 70569917 single base substitution C A intron_variant PACA-AU 13 70570044 70570044 single base substitution G T intron_variant PACA-AU 13 70571620 70571620 single base substitution A G intron_variant PACA-AU 13 70574407 70574407 insertion of <=200bp - A intron_variant PACA-AU 13 70575705 70575705 single base substitution A G intron_variant PACA-AU 13 70577405 70577405 single base substitution G T intron_variant PACA-AU 13 70578725 70578725 single base substitution A C intron_variant PACA-AU 13 70578808 70578808 single base substitution C T intron_variant PACA-AU 13 70579958 70579958 single base substitution C G intron_variant PACA-AU 13 70581434 70581434 single base substitution A G intron_variant PACA-AU 13 70581798 70581798 single base substitution G A intron_variant PACA-AU 13 70584020 70584020 single base substitution G A intron_variant PACA-AU 13 70584036 70584036 single base substitution A T intron_variant PACA-AU 13 70584379 70584379 single base substitution T C intron_variant PACA-AU 13 70587941 70587941 single base substitution A T intron_variant PACA-AU 13 70590163 70590163 single base substitution G T intron_variant PACA-AU 13 70591799 70591799 single base substitution G A intron_variant PACA-AU 13 70593613 70593613 single base substitution C T intron_variant PACA-AU 13 70594112 70594112 single base substitution G T intron_variant PACA-AU 13 70594595 70594595 single base substitution C T intron_variant PACA-AU 13 70594955 70594955 single base substitution A G intron_variant PACA-AU 13 70596404 70596404 single base substitution C T intron_variant PACA-AU 13 70598787 70598787 single base substitution T G intron_variant PACA-AU 13 70600235 70600235 single base substitution T A intron_variant PACA-AU 13 70600449 70600449 single base substitution T A intron_variant PACA-AU 13 70601268 70601268 single base substitution G C intron_variant PACA-AU 13 70602112 70602112 single base substitution C A intron_variant PACA-AU 13 70605179 70605179 single base substitution G A intron_variant PACA-AU 13 70605329 70605329 single base substitution C A intron_variant PACA-AU 13 70607442 70607442 single base substitution G A intron_variant PACA-AU 13 70607918 70607918 single base substitution A G intron_variant PACA-AU 13 70613653 70613653 deletion of <=200bp C - intron_variant PACA-AU 13 70615264 70615264 single base substitution A T intron_variant PACA-AU 13 70617439 70617439 single base substitution A C intron_variant PACA-AU 13 70617671 70617671 single base substitution C T intron_variant PACA-AU 13 70621840 70621840 single base substitution T A intron_variant PACA-AU 13 70625229 70625229 insertion of <=200bp - A intron_variant PACA-AU 13 70626587 70626587 single base substitution A T intron_variant PACA-AU 13 70628365 70628365 single base substitution A T intron_variant PACA-AU 13 70629033 70629033 deletion of <=200bp A - intron_variant PACA-AU 13 70629850 70629850 single base substitution G T intron_variant PACA-AU 13 70630038 70630038 deletion of <=200bp A - intron_variant PACA-AU 13 70630098 70630098 single base substitution T C intron_variant PACA-AU 13 70630503 70630503 single base substitution A G intron_variant PACA-AU 13 70632613 70632613 single base substitution G C intron_variant PACA-AU 13 70640172 70640172 insertion of <=200bp - A intron_variant PACA-AU 13 70642223 70642223 single base substitution C A intron_variant PACA-AU 13 70642346 70642346 single base substitution G A intron_variant PACA-AU 13 70643095 70643095 deletion of <=200bp A - intron_variant PACA-AU 13 70643467 70643467 single base substitution G A intron_variant PACA-AU 13 70644060 70644060 single base substitution G A intron_variant PACA-AU 13 70644116 70644116 single base substitution C T intron_variant PACA-AU 13 70649894 70649894 single base substitution T C intron_variant PACA-AU 13 70653854 70653854 single base substitution T C intron_variant PACA-AU 13 70655127 70655127 deletion of <=200bp A - intron_variant PACA-AU 13 70655870 70655870 single base substitution G A intron_variant PACA-AU 13 70656648 70656648 single base substitution C A intron_variant PACA-AU 13 70661200 70661200 single base substitution G A intron_variant PACA-AU 13 70662870 70662870 single base substitution C T intron_variant PACA-AU 13 70663210 70663210 single base substitution T C intron_variant PACA-AU 13 70663655 70663655 single base substitution G A intron_variant PACA-AU 13 70664836 70664836 single base substitution A T intron_variant PACA-AU 13 70665420 70665420 single base substitution A T intron_variant PACA-AU 13 70665650 70665650 single base substitution T C intron_variant PACA-AU 13 70667339 70667339 single base substitution A C intron_variant PACA-AU 13 70667660 70667660 single base substitution T G intron_variant PACA-AU 13 70673033 70673033 deletion of <=200bp T - intron_variant PACA-AU 13 70674334 70674334 single base substitution C T intron_variant PACA-AU 13 70675755 70675755 single base substitution T C intron_variant PACA-AU 13 70676606 70676606 single base substitution G A intron_variant PACA-AU 13 70678544 70678544 single base substitution G T intron_variant PACA-AU 13 70682809 70682809 single base substitution G A upstream_gene_variant PACA-AU 13 70684019 70684019 single base substitution T A upstream_gene_variant PACA-AU 13 70685220 70685220 single base substitution A G upstream_gene_variant PACA-AU 13 70687149 70687149 single base substitution G A upstream_gene_variant PACA-CA 13 70270292 70270292 single base substitution A G downstream_gene_variant PACA-CA 13 70270991 70270991 single base substitution A G downstream_gene_variant PACA-CA 13 70271816 70271816 single base substitution G A downstream_gene_variant PACA-CA 13 70272333 70272333 deletion of <=200bp A - downstream_gene_variant PACA-CA 13 70273279 70273279 single base substitution T C downstream_gene_variant PACA-CA 13 70274317 70274317 single base substitution T G downstream_gene_variant PACA-CA 13 70278208 70278208 single base substitution T G intron_variant PACA-CA 13 70280901 70280901 single base substitution A T intron_variant PACA-CA 13 70283876 70283876 insertion of <=200bp - A intron_variant PACA-CA 13 70286115 70286115 deletion of <=200bp T - intron_variant PACA-CA 13 70287264 70287264 single base substitution A C intron_variant PACA-CA 13 70287520 70287520 single base substitution A T intron_variant PACA-CA 13 70288011 70288011 single base substitution G A intron_variant PACA-CA 13 70288738 70288738 insertion of <=200bp - A intron_variant PACA-CA 13 70289938 70289938 single base substitution G T intron_variant PACA-CA 13 70290440 70290440 single base substitution G A intron_variant PACA-CA 13 70291087 70291087 single base substitution G A intron_variant PACA-CA 13 70294711 70294711 single base substitution A G intron_variant PACA-CA 13 70294912 70294912 single base substitution A G intron_variant PACA-CA 13 70296134 70296134 single base substitution T C intron_variant PACA-CA 13 70297421 70297421 single base substitution C T intron_variant PACA-CA 13 70297785 70297785 single base substitution A C intron_variant PACA-CA 13 70300479 70300479 single base substitution A T intron_variant PACA-CA 13 70301435 70301435 single base substitution A T intron_variant PACA-CA 13 70301977 70301977 single base substitution A C intron_variant PACA-CA 13 70303813 70303813 single base substitution C T intron_variant PACA-CA 13 70304003 70304003 single base substitution T A intron_variant PACA-CA 13 70305186 70305186 single base substitution G T intron_variant PACA-CA 13 70305304 70305304 single base substitution A T intron_variant PACA-CA 13 70305392 70305392 single base substitution A C intron_variant PACA-CA 13 70306052 70306052 single base substitution T A intron_variant PACA-CA 13 70308737 70308737 single base substitution T G intron_variant PACA-CA 13 70310835 70310835 single base substitution C T intron_variant PACA-CA 13 70311559 70311559 single base substitution G A intron_variant PACA-CA 13 70312498 70312498 single base substitution C T intron_variant PACA-CA 13 70312823 70312823 single base substitution A C intron_variant PACA-CA 13 70314097 70314097 single base substitution G T intron_variant PACA-CA 13 70315101 70315101 single base substitution G T intron_variant PACA-CA 13 70318798 70318798 single base substitution C A intron_variant PACA-CA 13 70320521 70320521 single base substitution T C intron_variant PACA-CA 13 70321549 70321549 single base substitution T C intron_variant PACA-CA 13 70322627 70322627 single base substitution C A intron_variant PACA-CA 13 70322645 70322645 single base substitution T C intron_variant PACA-CA 13 70323235 70323235 single base substitution C G intron_variant PACA-CA 13 70323521 70323521 single base substitution A G intron_variant PACA-CA 13 70325169 70325169 single base substitution C A intron_variant PACA-CA 13 70325230 70325230 single base substitution C T intron_variant PACA-CA 13 70327348 70327348 single base substitution C A intron_variant PACA-CA 13 70329508 70329508 single base substitution C A intron_variant PACA-CA 13 70329602 70329602 single base substitution G T intron_variant PACA-CA 13 70329730 70329730 single base substitution T G intron_variant PACA-CA 13 70330613 70330613 single base substitution C A intron_variant PACA-CA 13 70331097 70331097 deletion of <=200bp A - intron_variant PACA-CA 13 70331399 70331399 single base substitution A G intron_variant PACA-CA 13 70332659 70332659 single base substitution A G intron_variant PACA-CA 13 70333377 70333377 single base substitution C T intron_variant PACA-CA 13 70333500 70333500 single base substitution C T intron_variant PACA-CA 13 70333848 70333848 single base substitution C T intron_variant PACA-CA 13 70334105 70334105 single base substitution T A intron_variant PACA-CA 13 70338235 70338235 single base substitution C T intron_variant PACA-CA 13 70338353 70338353 single base substitution A G intron_variant PACA-CA 13 70339898 70339898 single base substitution A G intron_variant PACA-CA 13 70341108 70341108 single base substitution G A intron_variant PACA-CA 13 70343116 70343116 single base substitution C A intron_variant PACA-CA 13 70344368 70344368 single base substitution T A intron_variant PACA-CA 13 70346229 70346229 single base substitution G A intron_variant PACA-CA 13 70347518 70347518 single base substitution C G intron_variant PACA-CA 13 70351191 70351191 single base substitution G C intron_variant PACA-CA 13 70354431 70354431 single base substitution C A intron_variant PACA-CA 13 70355510 70355510 single base substitution A G intron_variant PACA-CA 13 70355845 70355845 single base substitution T C intron_variant PACA-CA 13 70360353 70360353 single base substitution C A intron_variant PACA-CA 13 70360488 70360488 single base substitution G A intron_variant PACA-CA 13 70360543 70360543 single base substitution G A intron_variant PACA-CA 13 70361782 70361782 single base substitution A G intron_variant PACA-CA 13 70362636 70362636 single base substitution A T intron_variant PACA-CA 13 70363049 70363049 deletion of <=200bp G - intron_variant PACA-CA 13 70363834 70363834 single base substitution T G intron_variant PACA-CA 13 70364248 70364248 single base substitution T A intron_variant PACA-CA 13 70364373 70364373 deletion of <=200bp A - intron_variant PACA-CA 13 70364690 70364693 deletion of <=200bp AAAT - intron_variant PACA-CA 13 70365309 70365309 single base substitution C T intron_variant PACA-CA 13 70367875 70367875 single base substitution T C intron_variant PACA-CA 13 70368294 70368294 single base substitution A C intron_variant PACA-CA 13 70369243 70369243 single base substitution C T intron_variant PACA-CA 13 70370912 70370912 single base substitution A C missense_variant W340G 1018T>G PACA-CA 13 70370912 70370912 single base substitution A C missense_variant W533G 1597T>G PACA-CA 13 70371199 70371199 insertion of <=200bp - T intron_variant PACA-CA 13 70372701 70372701 single base substitution T C intron_variant PACA-CA 13 70373661 70373661 single base substitution G A intron_variant PACA-CA 13 70374641 70374641 single base substitution G T intron_variant PACA-CA 13 70375659 70375659 single base substitution A T intron_variant PACA-CA 13 70376185 70376185 single base substitution T C intron_variant PACA-CA 13 70376943 70376943 single base substitution T A intron_variant PACA-CA 13 70379295 70379295 single base substitution A G intron_variant PACA-CA 13 70381488 70381488 single base substitution C T intron_variant PACA-CA 13 70381697 70381697 single base substitution C T intron_variant PACA-CA 13 70382121 70382121 single base substitution T G intron_variant PACA-CA 13 70384737 70384737 single base substitution C T intron_variant PACA-CA 13 70385298 70385298 single base substitution A C intron_variant PACA-CA 13 70387635 70387635 insertion of <=200bp - ACACAT intron_variant PACA-CA 13 70387635 70387635 single base substitution C T intron_variant PACA-CA 13 70388305 70388305 single base substitution G A intron_variant PACA-CA 13 70388423 70388423 single base substitution C A intron_variant PACA-CA 13 70390072 70390072 single base substitution C A intron_variant PACA-CA 13 70390151 70390151 insertion of <=200bp - A intron_variant PACA-CA 13 70390813 70390813 single base substitution G A intron_variant PACA-CA 13 70390817 70390817 single base substitution C A intron_variant PACA-CA 13 70392657 70392657 insertion of <=200bp - T intron_variant PACA-CA 13 70392682 70392682 single base substitution C T intron_variant PACA-CA 13 70395231 70395231 single base substitution T C intron_variant PACA-CA 13 70395301 70395301 single base substitution C A intron_variant PACA-CA 13 70395610 70395610 single base substitution C A intron_variant PACA-CA 13 70397308 70397308 single base substitution G T intron_variant PACA-CA 13 70398290 70398290 single base substitution T A intron_variant PACA-CA 13 70400611 70400611 single base substitution C T intron_variant PACA-CA 13 70400711 70400714 deletion of <=200bp AAAG - intron_variant PACA-CA 13 70403903 70403903 single base substitution C T intron_variant PACA-CA 13 70407964 70407964 insertion of <=200bp - AT intron_variant PACA-CA 13 70408479 70408479 deletion of <=200bp A - intron_variant PACA-CA 13 70409955 70409955 insertion of <=200bp - A intron_variant PACA-CA 13 70410987 70410987 deletion of <=200bp A - intron_variant PACA-CA 13 70411788 70411788 single base substitution A G intron_variant PACA-CA 13 70414028 70414028 single base substitution G A intron_variant PACA-CA 13 70415798 70415798 single base substitution A C intron_variant PACA-CA 13 70417134 70417134 single base substitution A G intron_variant PACA-CA 13 70417404 70417404 insertion of <=200bp - A intron_variant PACA-CA 13 70424823 70424823 single base substitution G A intron_variant PACA-CA 13 70425133 70425133 single base substitution A G intron_variant PACA-CA 13 70431972 70431972 single base substitution G A intron_variant PACA-CA 13 70433572 70433572 single base substitution T C intron_variant PACA-CA 13 70433747 70433747 single base substitution T C intron_variant PACA-CA 13 70435851 70435851 single base substitution G A intron_variant PACA-CA 13 70435869 70435869 single base substitution C T intron_variant PACA-CA 13 70437519 70437519 insertion of <=200bp - AAAAGAGGATCCTAGAAGAAGACTAGGCACCAGT intron_variant PACA-CA 13 70437736 70437736 single base substitution T A intron_variant PACA-CA 13 70438904 70438904 single base substitution T G intron_variant PACA-CA 13 70439488 70439488 single base substitution A G intron_variant PACA-CA 13 70441694 70441694 deletion of <=200bp A - intron_variant PACA-CA 13 70444217 70444217 single base substitution C G intron_variant PACA-CA 13 70444431 70444431 single base substitution A T intron_variant PACA-CA 13 70446526 70446526 single base substitution C A intron_variant PACA-CA 13 70450350 70450350 single base substitution T C intron_variant PACA-CA 13 70450598 70450598 single base substitution T C intron_variant PACA-CA 13 70450611 70450611 single base substitution G A intron_variant PACA-CA 13 70450641 70450641 single base substitution T C intron_variant PACA-CA 13 70451628 70451628 single base substitution A C intron_variant PACA-CA 13 70451938 70451938 single base substitution C G intron_variant PACA-CA 13 70452841 70452841 single base substitution T G intron_variant PACA-CA 13 70452843 70452843 single base substitution T G intron_variant PACA-CA 13 70452845 70452845 single base substitution G T intron_variant PACA-CA 13 70452868 70452868 single base substitution T A intron_variant PACA-CA 13 70453816 70453816 single base substitution T G intron_variant PACA-CA 13 70455729 70455729 single base substitution T C intron_variant PACA-CA 13 70456304 70456304 single base substitution A T intron_variant PACA-CA 13 70458079 70458079 single base substitution G A intron_variant PACA-CA 13 70459361 70459361 single base substitution C T intron_variant PACA-CA 13 70459362 70459362 single base substitution G A intron_variant PACA-CA 13 70460745 70460745 single base substitution C T intron_variant PACA-CA 13 70460836 70460836 single base substitution G T intron_variant PACA-CA 13 70460882 70460882 single base substitution A C intron_variant PACA-CA 13 70460949 70460949 single base substitution C T intron_variant PACA-CA 13 70470584 70470584 single base substitution T G intron_variant PACA-CA 13 70471044 70471044 single base substitution C T intron_variant PACA-CA 13 70472926 70472926 insertion of <=200bp - T intron_variant PACA-CA 13 70473215 70473215 single base substitution A G intron_variant PACA-CA 13 70474904 70474904 single base substitution G T intron_variant PACA-CA 13 70475056 70475056 single base substitution C A intron_variant PACA-CA 13 70476142 70476142 single base substitution G A intron_variant PACA-CA 13 70476390 70476390 single base substitution G A intron_variant PACA-CA 13 70476497 70476497 single base substitution A G intron_variant PACA-CA 13 70478366 70478366 single base substitution G C intron_variant PACA-CA 13 70482162 70482162 single base substitution G T intron_variant PACA-CA 13 70482367 70482367 single base substitution G T intron_variant PACA-CA 13 70482522 70482522 single base substitution G A intron_variant PACA-CA 13 70483343 70483343 single base substitution T G intron_variant PACA-CA 13 70483676 70483676 single base substitution T A intron_variant PACA-CA 13 70483677 70483677 single base substitution A T intron_variant PACA-CA 13 70484185 70484185 single base substitution T C intron_variant PACA-CA 13 70484610 70484610 single base substitution C T intron_variant PACA-CA 13 70486296 70486296 single base substitution C A intron_variant PACA-CA 13 70488978 70488978 single base substitution C A intron_variant PACA-CA 13 70489663 70489663 single base substitution G T intron_variant PACA-CA 13 70492982 70492982 single base substitution C A intron_variant PACA-CA 13 70493224 70493224 single base substitution G C intron_variant PACA-CA 13 70496942 70496942 single base substitution G A intron_variant PACA-CA 13 70499193 70499193 single base substitution A G intron_variant PACA-CA 13 70500701 70500701 single base substitution G A intron_variant PACA-CA 13 70500862 70500862 single base substitution G T intron_variant PACA-CA 13 70502073 70502073 single base substitution C T intron_variant PACA-CA 13 70503056 70503056 single base substitution C T intron_variant PACA-CA 13 70503754 70503754 single base substitution T C intron_variant PACA-CA 13 70505193 70505193 single base substitution C T intron_variant PACA-CA 13 70507113 70507113 single base substitution A C intron_variant PACA-CA 13 70507343 70507343 single base substitution G A intron_variant PACA-CA 13 70507853 70507853 single base substitution C T intron_variant PACA-CA 13 70508163 70508163 single base substitution C T intron_variant PACA-CA 13 70511766 70511766 single base substitution A T intron_variant PACA-CA 13 70514725 70514725 single base substitution C A intron_variant PACA-CA 13 70515070 70515070 single base substitution A T intron_variant PACA-CA 13 70516166 70516166 single base substitution T A intron_variant PACA-CA 13 70518443 70518443 single base substitution T A intron_variant PACA-CA 13 70519697 70519697 single base substitution C T intron_variant PACA-CA 13 70521776 70521776 single base substitution C A intron_variant PACA-CA 13 70521813 70521813 single base substitution T A intron_variant PACA-CA 13 70522179 70522179 single base substitution G A intron_variant PACA-CA 13 70522759 70522759 single base substitution T C intron_variant PACA-CA 13 70525234 70525234 single base substitution G A intron_variant PACA-CA 13 70525299 70525299 single base substitution T G intron_variant PACA-CA 13 70527586 70527586 single base substitution A T intron_variant PACA-CA 13 70529128 70529128 single base substitution T G intron_variant PACA-CA 13 70529244 70529244 single base substitution T C intron_variant PACA-CA 13 70529358 70529358 single base substitution G A intron_variant PACA-CA 13 70535354 70535354 insertion of <=200bp - A intron_variant PACA-CA 13 70536578 70536578 single base substitution C T intron_variant PACA-CA 13 70536717 70536717 single base substitution C A intron_variant PACA-CA 13 70538896 70538896 single base substitution T C intron_variant PACA-CA 13 70539499 70539499 single base substitution T A intron_variant PACA-CA 13 70539731 70539731 single base substitution C T intron_variant PACA-CA 13 70539974 70539974 single base substitution G T intron_variant PACA-CA 13 70540365 70540365 single base substitution G T intron_variant PACA-CA 13 70540787 70540787 deletion of <=200bp T - intron_variant PACA-CA 13 70541028 70541028 single base substitution A G intron_variant PACA-CA 13 70541135 70541135 single base substitution C G intron_variant PACA-CA 13 70541667 70541667 single base substitution G T intron_variant PACA-CA 13 70541728 70541728 single base substitution T C intron_variant PACA-CA 13 70544562 70544562 single base substitution A T intron_variant PACA-CA 13 70545069 70545069 single base substitution C T intron_variant PACA-CA 13 70545142 70545142 single base substitution A C intron_variant PACA-CA 13 70545331 70545331 single base substitution G A intron_variant PACA-CA 13 70545809 70545809 single base substitution G A intron_variant PACA-CA 13 70547067 70547067 single base substitution G C intron_variant PACA-CA 13 70547412 70547412 single base substitution A T intron_variant PACA-CA 13 70547681 70547681 single base substitution T C intron_variant PACA-CA 13 70548498 70548498 single base substitution C G intron_variant PACA-CA 13 70548635 70548635 single base substitution C G intron_variant PACA-CA 13 70555946 70555946 single base substitution C G intron_variant PACA-CA 13 70557814 70557814 single base substitution G A intron_variant PACA-CA 13 70559951 70559951 insertion of <=200bp - TA intron_variant PACA-CA 13 70560481 70560481 single base substitution G T intron_variant PACA-CA 13 70561589 70561589 deletion of <=200bp T - intron_variant PACA-CA 13 70561841 70561841 single base substitution C G intron_variant PACA-CA 13 70562022 70562022 single base substitution A G intron_variant PACA-CA 13 70562214 70562214 deletion of <=200bp T - intron_variant PACA-CA 13 70563150 70563150 single base substitution C T intron_variant PACA-CA 13 70565541 70565541 single base substitution C A intron_variant PACA-CA 13 70566138 70566175 deletion of <=200bp GCAAAGTACTAGGCACCACCTCAGACCTAATGAATCAA - intron_variant PACA-CA 13 70567402 70567402 single base substitution G A intron_variant PACA-CA 13 70567590 70567590 single base substitution C T intron_variant PACA-CA 13 70568231 70568231 single base substitution G C intron_variant PACA-CA 13 70569561 70569561 single base substitution G T intron_variant PACA-CA 13 70570007 70570007 single base substitution A G intron_variant PACA-CA 13 70570162 70570162 single base substitution C T intron_variant PACA-CA 13 70570457 70570457 single base substitution A G intron_variant PACA-CA 13 70571373 70571373 single base substitution T C intron_variant PACA-CA 13 70571627 70571627 single base substitution G A intron_variant PACA-CA 13 70572630 70572630 single base substitution C T intron_variant PACA-CA 13 70573104 70573104 single base substitution C A intron_variant PACA-CA 13 70575079 70575079 single base substitution A T intron_variant PACA-CA 13 70575746 70575746 insertion of <=200bp - CTATCTAC intron_variant PACA-CA 13 70576337 70576337 single base substitution A G intron_variant PACA-CA 13 70577189 70577189 single base substitution G A intron_variant PACA-CA 13 70580209 70580209 single base substitution T A intron_variant PACA-CA 13 70580598 70580598 single base substitution G A intron_variant PACA-CA 13 70580980 70580981 deletion of <=200bp AT - intron_variant PACA-CA 13 70581409 70581409 single base substitution T A intron_variant PACA-CA 13 70582589 70582589 single base substitution G A intron_variant PACA-CA 13 70588161 70588161 single base substitution G T intron_variant PACA-CA 13 70588162 70588162 single base substitution A G intron_variant PACA-CA 13 70588733 70588733 single base substitution A G intron_variant PACA-CA 13 70592182 70592182 single base substitution G A intron_variant PACA-CA 13 70592282 70592282 single base substitution A G intron_variant PACA-CA 13 70592581 70592581 single base substitution G C intron_variant PACA-CA 13 70595397 70595397 single base substitution C A intron_variant PACA-CA 13 70595714 70595714 single base substitution T G intron_variant PACA-CA 13 70596658 70596658 single base substitution T C intron_variant PACA-CA 13 70598172 70598172 deletion of <=200bp A - intron_variant PACA-CA 13 70598856 70598856 single base substitution A G intron_variant PACA-CA 13 70599395 70599395 single base substitution T C intron_variant PACA-CA 13 70600093 70600093 single base substitution G A intron_variant PACA-CA 13 70603454 70603454 single base substitution C T intron_variant PACA-CA 13 70604058 70604058 insertion of <=200bp - A intron_variant PACA-CA 13 70605776 70605776 single base substitution C A intron_variant PACA-CA 13 70606481 70606481 single base substitution A C intron_variant PACA-CA 13 70609689 70609689 single base substitution T A intron_variant PACA-CA 13 70610452 70610452 single base substitution G A intron_variant PACA-CA 13 70614240 70614240 single base substitution A G intron_variant PACA-CA 13 70615264 70615264 single base substitution A T intron_variant PACA-CA 13 70616328 70616328 single base substitution G A intron_variant PACA-CA 13 70618520 70618520 single base substitution T G intron_variant PACA-CA 13 70621841 70621841 single base substitution A T intron_variant PACA-CA 13 70623439 70623439 insertion of <=200bp - A intron_variant PACA-CA 13 70624725 70624725 single base substitution A C intron_variant PACA-CA 13 70626586 70626586 insertion of <=200bp - A intron_variant PACA-CA 13 70627016 70627016 single base substitution T C intron_variant PACA-CA 13 70628978 70628978 deletion of <=200bp G - intron_variant PACA-CA 13 70629150 70629150 single base substitution C T intron_variant PACA-CA 13 70630153 70630153 single base substitution T G intron_variant PACA-CA 13 70631183 70631183 single base substitution C A intron_variant PACA-CA 13 70634793 70634793 single base substitution T A intron_variant PACA-CA 13 70636453 70636453 single base substitution T G intron_variant PACA-CA 13 70637410 70637410 single base substitution A C intron_variant PACA-CA 13 70637616 70637616 single base substitution T G intron_variant PACA-CA 13 70639497 70639497 single base substitution C T intron_variant PACA-CA 13 70639704 70639704 single base substitution G C intron_variant PACA-CA 13 70639793 70639793 single base substitution T A intron_variant PACA-CA 13 70640404 70640404 single base substitution C T intron_variant PACA-CA 13 70640493 70640493 single base substitution C T intron_variant PACA-CA 13 70641303 70641312 deletion of <=200bp ACTAATAAAA - intron_variant PACA-CA 13 70642155 70642155 single base substitution T C intron_variant PACA-CA 13 70644736 70644736 single base substitution G A intron_variant PACA-CA 13 70646502 70646502 single base substitution G C intron_variant PACA-CA 13 70646556 70646556 single base substitution A G intron_variant PACA-CA 13 70648427 70648427 single base substitution G T intron_variant PACA-CA 13 70648531 70648531 single base substitution A T intron_variant PACA-CA 13 70648912 70648912 single base substitution A T intron_variant PACA-CA 13 70649869 70649869 single base substitution A G intron_variant PACA-CA 13 70654854 70654854 single base substitution G A intron_variant PACA-CA 13 70654964 70654964 single base substitution C T intron_variant PACA-CA 13 70655456 70655456 single base substitution G A intron_variant PACA-CA 13 70655494 70655494 single base substitution A T intron_variant PACA-CA 13 70655840 70655840 single base substitution G A intron_variant PACA-CA 13 70656091 70656091 single base substitution G T intron_variant PACA-CA 13 70656556 70656556 single base substitution C A intron_variant PACA-CA 13 70656579 70656579 single base substitution A T intron_variant PACA-CA 13 70656768 70656768 single base substitution C A intron_variant PACA-CA 13 70657510 70657510 single base substitution C T intron_variant PACA-CA 13 70659004 70659004 single base substitution A G intron_variant PACA-CA 13 70660437 70660437 single base substitution G A intron_variant PACA-CA 13 70661666 70661666 single base substitution A C intron_variant PACA-CA 13 70664048 70664048 single base substitution T C intron_variant PACA-CA 13 70664094 70664094 single base substitution C T intron_variant PACA-CA 13 70665303 70665303 single base substitution T G intron_variant PACA-CA 13 70668325 70668325 single base substitution G T intron_variant PACA-CA 13 70669961 70669961 insertion of <=200bp - C intron_variant PACA-CA 13 70669995 70669995 single base substitution G A intron_variant PACA-CA 13 70672246 70672246 single base substitution T C intron_variant PACA-CA 13 70673445 70673445 single base substitution A G intron_variant PACA-CA 13 70674164 70674164 single base substitution T A intron_variant PACA-CA 13 70676951 70676951 single base substitution A T intron_variant PACA-CA 13 70677171 70677171 single base substitution A T intron_variant PACA-CA 13 70678715 70678715 single base substitution G A intron_variant PACA-CA 13 70679542 70679542 single base substitution A T intron_variant PACA-CA 13 70681505 70681505 single base substitution C A 5_prime_UTR_variant PACA-CA 13 70681505 70681505 single base substitution C A synonymous_variant G109G 327G>T PACA-CA 13 70681938 70681938 single base substitution C T 5_prime_UTR_variant PACA-CA 13 70681938 70681938 single base substitution C T upstream_gene_variant PACA-CA 13 70682769 70682769 single base substitution C G upstream_gene_variant PACA-CA 13 70683229 70683229 single base substitution C T upstream_gene_variant PACA-CA 13 70683432 70683432 single base substitution A C upstream_gene_variant PACA-CA 13 70683495 70683495 single base substitution T G upstream_gene_variant PACA-CA 13 70684417 70684417 single base substitution T C upstream_gene_variant PACA-CA 13 70685792 70685792 single base substitution C A upstream_gene_variant PACA-CA 13 70686542 70686542 single base substitution T A upstream_gene_variant PACA-CA 13 70687397 70687397 single base substitution T C upstream_gene_variant PAEN-AU 13 70272206 70272206 single base substitution T C downstream_gene_variant PAEN-AU 13 70280528 70280528 single base substitution G A intron_variant PAEN-AU 13 70297979 70297979 insertion of <=200bp - TTC intron_variant PAEN-AU 13 70299051 70299051 single base substitution A T intron_variant PAEN-AU 13 70314043 70314043 single base substitution A G intron_variant PAEN-AU 13 70345414 70345414 single base substitution A G intron_variant PAEN-AU 13 70346597 70346597 single base substitution T C intron_variant PAEN-AU 13 70387599 70387599 single base substitution T C intron_variant PAEN-AU 13 70397401 70397401 single base substitution A G intron_variant PAEN-AU 13 70407121 70407121 single base substitution C T intron_variant PAEN-AU 13 70418722 70418722 single base substitution C T intron_variant PAEN-AU 13 70438236 70438236 single base substitution A G intron_variant PAEN-AU 13 70453448 70453448 single base substitution C T intron_variant PAEN-AU 13 70460792 70460792 single base substitution A G intron_variant PAEN-AU 13 70468026 70468026 single base substitution G T intron_variant PAEN-AU 13 70477236 70477236 single base substitution A T intron_variant PAEN-AU 13 70491538 70491538 single base substitution G C intron_variant PAEN-AU 13 70491748 70491748 single base substitution T G intron_variant PAEN-AU 13 70492244 70492244 single base substitution T C intron_variant PAEN-AU 13 70498767 70498767 single base substitution T C intron_variant PAEN-AU 13 70508421 70508421 single base substitution C T intron_variant PAEN-AU 13 70537740 70537740 single base substitution C T intron_variant PAEN-AU 13 70554704 70554704 single base substitution G C intron_variant PAEN-AU 13 70555607 70555607 single base substitution T C intron_variant PAEN-AU 13 70569251 70569251 single base substitution T C intron_variant PAEN-AU 13 70572417 70572417 single base substitution G A intron_variant PAEN-AU 13 70581152 70581152 single base substitution T C intron_variant PAEN-AU 13 70590311 70590311 single base substitution G T intron_variant PAEN-AU 13 70592716 70592716 single base substitution G T intron_variant PAEN-AU 13 70614319 70614319 single base substitution G T intron_variant PAEN-AU 13 70614998 70614998 single base substitution A G intron_variant PAEN-AU 13 70646961 70646961 single base substitution C G intron_variant PAEN-AU 13 70665814 70665814 deletion of <=200bp T - intron_variant PAEN-AU 13 70674322 70674322 single base substitution T C intron_variant PAEN-AU 13 70676037 70676037 single base substitution T A intron_variant PAEN-IT 13 70274466 70274466 single base substitution C A downstream_gene_variant PAEN-IT 13 70289025 70289025 single base substitution C T intron_variant PAEN-IT 13 70297606 70297606 single base substitution G T intron_variant PAEN-IT 13 70330740 70330740 single base substitution G T intron_variant PAEN-IT 13 70342313 70342313 single base substitution A T intron_variant PAEN-IT 13 70364750 70364750 single base substitution T A intron_variant PAEN-IT 13 70412870 70412870 single base substitution C T intron_variant PAEN-IT 13 70421150 70421150 single base substitution C A intron_variant PAEN-IT 13 70423638 70423638 single base substitution T A intron_variant PAEN-IT 13 70439424 70439424 single base substitution G C intron_variant PAEN-IT 13 70498344 70498344 single base substitution A G intron_variant PAEN-IT 13 70498559 70498559 single base substitution G T intron_variant PAEN-IT 13 70513565 70513565 single base substitution C T intron_variant PAEN-IT 13 70518837 70518837 single base substitution G T intron_variant PAEN-IT 13 70523188 70523188 single base substitution T A intron_variant PAEN-IT 13 70528207 70528207 single base substitution G A intron_variant PAEN-IT 13 70540720 70540720 single base substitution G T intron_variant PAEN-IT 13 70565535 70565535 single base substitution C T intron_variant PAEN-IT 13 70578451 70578451 single base substitution A T intron_variant PAEN-IT 13 70599444 70599444 single base substitution C A intron_variant PAEN-IT 13 70615020 70615020 single base substitution C T intron_variant PAEN-IT 13 70617238 70617238 single base substitution T A intron_variant PAEN-IT 13 70644230 70644230 single base substitution G T intron_variant PAEN-IT 13 70662734 70662734 single base substitution G A intron_variant PBCA-DE 13 70274981 70274981 deletion of <=200bp G - 3_prime_UTR_variant PBCA-DE 13 70274981 70274981 deletion of <=200bp G - downstream_gene_variant PBCA-DE 13 70295195 70295196 deletion of <=200bp AT - intron_variant PBCA-DE 13 70304400 70304401 deletion of <=200bp TG - intron_variant PBCA-DE 13 70304600 70304600 single base substitution G A intron_variant PBCA-DE 13 70305736 70305736 single base substitution A G intron_variant PBCA-DE 13 70307535 70307535 deletion of <=200bp A - intron_variant PBCA-DE 13 70309016 70309016 single base substitution A G intron_variant PBCA-DE 13 70314922 70314922 single base substitution A G intron_variant PBCA-DE 13 70315007 70315007 single base substitution T G intron_variant PBCA-DE 13 70316933 70316933 single base substitution T G intron_variant PBCA-DE 13 70327303 70327303 single base substitution G C intron_variant PBCA-DE 13 70328307 70328307 single base substitution G A intron_variant PBCA-DE 13 70328750 70328750 single base substitution C T intron_variant PBCA-DE 13 70333113 70333113 single base substitution G A intron_variant PBCA-DE 13 70336134 70336134 single base substitution C A intron_variant PBCA-DE 13 70338668 70338668 insertion of <=200bp - A intron_variant PBCA-DE 13 70342594 70342594 single base substitution G T intron_variant PBCA-DE 13 70346308 70346308 single base substitution T C intron_variant PBCA-DE 13 70347775 70347775 single base substitution T A intron_variant PBCA-DE 13 70347996 70347997 deletion of <=200bp TA - intron_variant PBCA-DE 13 70352923 70352928 deletion of <=200bp TCTTTT - intron_variant PBCA-DE 13 70357829 70357832 deletion of <=200bp TGAT - intron_variant PBCA-DE 13 70358432 70358432 single base substitution C T intron_variant PBCA-DE 13 70359728 70359728 insertion of <=200bp - AG intron_variant PBCA-DE 13 70363778 70363778 single base substitution T A intron_variant PBCA-DE 13 70370110 70370110 single base substitution A G intron_variant PBCA-DE 13 70371281 70371281 single base substitution A T intron_variant PBCA-DE 13 70372230 70372230 single base substitution A T intron_variant PBCA-DE 13 70392109 70392109 single base substitution A G intron_variant PBCA-DE 13 70395372 70395372 single base substitution A C intron_variant PBCA-DE 13 70397673 70397673 single base substitution T C intron_variant PBCA-DE 13 70402365 70402365 deletion of <=200bp G - intron_variant PBCA-DE 13 70410470 70410470 single base substitution C T intron_variant PBCA-DE 13 70411746 70411746 single base substitution C A intron_variant PBCA-DE 13 70411763 70411764 deletion of <=200bp TA - intron_variant PBCA-DE 13 70411803 70411804 deletion of <=200bp TA - intron_variant PBCA-DE 13 70413116 70413116 single base substitution T A missense_variant N276I 827A>T PBCA-DE 13 70413116 70413116 single base substitution T A missense_variant N469I 1406A>T PBCA-DE 13 70425324 70425324 single base substitution A G intron_variant PBCA-DE 13 70432635 70432635 single base substitution G T intron_variant PBCA-DE 13 70433208 70433208 single base substitution C A intron_variant PBCA-DE 13 70434428 70434428 single base substitution A C intron_variant PBCA-DE 13 70436098 70436098 insertion of <=200bp - AAAAT intron_variant PBCA-DE 13 70436427 70436428 deletion of <=200bp AG - intron_variant PBCA-DE 13 70438135 70438135 single base substitution C T intron_variant PBCA-DE 13 70446459 70446459 single base substitution C A intron_variant PBCA-DE 13 70448723 70448723 single base substitution T A intron_variant PBCA-DE 13 70449650 70449650 single base substitution A G intron_variant PBCA-DE 13 70452842 70452842 insertion of <=200bp - AG intron_variant PBCA-DE 13 70452843 70452843 single base substitution T G intron_variant PBCA-DE 13 70463176 70463177 deletion of <=200bp AT - intron_variant PBCA-DE 13 70469681 70469681 deletion of <=200bp A - intron_variant PBCA-DE 13 70470037 70470037 single base substitution G T intron_variant PBCA-DE 13 70471992 70471992 single base substitution C A intron_variant PBCA-DE 13 70485171 70485171 single base substitution G C intron_variant PBCA-DE 13 70494366 70494366 single base substitution A G intron_variant PBCA-DE 13 70499393 70499393 single base substitution C T intron_variant PBCA-DE 13 70499556 70499556 single base substitution C T intron_variant PBCA-DE 13 70501152 70501152 single base substitution C G intron_variant PBCA-DE 13 70507430 70507430 single base substitution A T intron_variant PBCA-DE 13 70509395 70509395 single base substitution T C intron_variant PBCA-DE 13 70512341 70512341 single base substitution C A intron_variant PBCA-DE 13 70533785 70533785 single base substitution C G intron_variant PBCA-DE 13 70534135 70534135 single base substitution C T intron_variant PBCA-DE 13 70537456 70537456 single base substitution C T intron_variant PBCA-DE 13 70539096 70539096 deletion of <=200bp A - intron_variant PBCA-DE 13 70540291 70540291 single base substitution T C intron_variant PBCA-DE 13 70546740 70546740 single base substitution G A intron_variant PBCA-DE 13 70547791 70547791 single base substitution A T intron_variant PBCA-DE 13 70549909 70549909 single base substitution T C intron_variant PBCA-DE 13 70549909 70549909 single base substitution T C missense_variant T175A 523A>G PBCA-DE 13 70549943 70549944 deletion of <=200bp CA - intron_variant PBCA-DE 13 70555860 70555860 single base substitution C T intron_variant PBCA-DE 13 70562222 70562222 insertion of <=200bp - G intron_variant PBCA-DE 13 70563858 70563858 single base substitution G A intron_variant PBCA-DE 13 70568952 70568952 single base substitution A T intron_variant PBCA-DE 13 70572771 70572771 single base substitution C A intron_variant PBCA-DE 13 70577776 70577776 deletion of <=200bp T - intron_variant PBCA-DE 13 70581577 70581577 insertion of <=200bp - A intron_variant PBCA-DE 13 70587778 70587778 single base substitution G C intron_variant PBCA-DE 13 70592270 70592270 single base substitution G T intron_variant PBCA-DE 13 70598665 70598665 single base substitution C A intron_variant PBCA-DE 13 70601781 70601781 insertion of <=200bp - TTTTTTTTT intron_variant PBCA-DE 13 70605354 70605354 single base substitution G A intron_variant PBCA-DE 13 70606656 70606656 single base substitution A T intron_variant PBCA-DE 13 70610610 70610610 single base substitution C G intron_variant PBCA-DE 13 70612595 70612595 insertion of <=200bp - T intron_variant PBCA-DE 13 70618167 70618167 single base substitution C T intron_variant PBCA-DE 13 70618420 70618420 single base substitution G A intron_variant PBCA-DE 13 70638903 70638903 single base substitution G A intron_variant PBCA-DE 13 70642326 70642326 single base substitution G A intron_variant PBCA-DE 13 70653877 70653877 single base substitution C T intron_variant PBCA-DE 13 70661151 70661151 single base substitution G A intron_variant PBCA-DE 13 70664609 70664609 insertion of <=200bp - A intron_variant PBCA-DE 13 70666689 70666689 single base substitution G A intron_variant PBCA-DE 13 70684298 70684298 single base substitution A T upstream_gene_variant PBCA-DE 13 70684643 70684643 insertion of <=200bp - A upstream_gene_variant PRAD-CA 13 70273902 70273902 single base substitution G A downstream_gene_variant PRAD-CA 13 70273994 70273994 single base substitution G A downstream_gene_variant PRAD-CA 13 70277272 70277272 single base substitution T C intron_variant PRAD-CA 13 70280833 70280833 single base substitution C T intron_variant PRAD-CA 13 70293343 70293343 single base substitution A T intron_variant PRAD-CA 13 70305404 70305404 single base substitution T A intron_variant PRAD-CA 13 70316365 70316365 single base substitution G T intron_variant PRAD-CA 13 70320817 70320817 single base substitution G A intron_variant PRAD-CA 13 70322553 70322553 single base substitution G A intron_variant PRAD-CA 13 70324029 70324029 single base substitution A G intron_variant PRAD-CA 13 70325901 70325901 single base substitution C T intron_variant PRAD-CA 13 70330640 70330640 single base substitution T A intron_variant PRAD-CA 13 70339326 70339326 single base substitution C T intron_variant PRAD-CA 13 70347722 70347722 single base substitution A G intron_variant PRAD-CA 13 70354239 70354239 single base substitution C T intron_variant PRAD-CA 13 70354877 70354877 single base substitution C T intron_variant PRAD-CA 13 70356514 70356514 single base substitution C T intron_variant PRAD-CA 13 70356704 70356704 single base substitution G A intron_variant PRAD-CA 13 70365177 70365177 single base substitution G A intron_variant PRAD-CA 13 70371605 70371605 single base substitution T A intron_variant PRAD-CA 13 70373919 70373919 single base substitution G T intron_variant PRAD-CA 13 70384064 70384064 single base substitution G A intron_variant PRAD-CA 13 70407900 70407900 single base substitution C T intron_variant PRAD-CA 13 70411693 70411693 single base substitution A C intron_variant PRAD-CA 13 70414028 70414028 single base substitution G A intron_variant PRAD-CA 13 70414260 70414260 single base substitution A T intron_variant PRAD-CA 13 70425136 70425136 single base substitution G A intron_variant PRAD-CA 13 70428220 70428220 single base substitution C A intron_variant PRAD-CA 13 70432088 70432088 single base substitution C T intron_variant PRAD-CA 13 70439020 70439020 single base substitution G C intron_variant PRAD-CA 13 70452843 70452843 single base substitution T G intron_variant PRAD-CA 13 70485334 70485334 single base substitution A C intron_variant PRAD-CA 13 70485720 70485720 single base substitution A C intron_variant PRAD-CA 13 70500660 70500660 single base substitution T C intron_variant PRAD-CA 13 70507372 70507372 single base substitution A G intron_variant PRAD-CA 13 70509100 70509100 single base substitution A G intron_variant PRAD-CA 13 70567841 70567841 single base substitution T C intron_variant PRAD-CA 13 70574575 70574575 single base substitution G A intron_variant PRAD-CA 13 70576925 70576925 single base substitution T C intron_variant PRAD-CA 13 70612814 70612814 single base substitution C T intron_variant PRAD-CA 13 70617247 70617247 single base substitution G A intron_variant PRAD-CA 13 70636873 70636873 single base substitution C T intron_variant PRAD-CA 13 70638853 70638853 single base substitution C T intron_variant PRAD-CA 13 70646633 70646633 single base substitution C A intron_variant PRAD-CA 13 70661738 70661738 single base substitution A G intron_variant PRAD-CA 13 70665259 70665259 single base substitution A G intron_variant PRAD-UK 13 70278140 70278140 single base substitution G A intron_variant PRAD-UK 13 70278539 70278539 single base substitution A T intron_variant PRAD-UK 13 70279653 70279653 single base substitution G T intron_variant PRAD-UK 13 70280925 70280925 single base substitution C G intron_variant PRAD-UK 13 70284215 70284215 single base substitution A G intron_variant PRAD-UK 13 70284873 70284873 single base substitution G A intron_variant PRAD-UK 13 70289632 70289632 single base substitution C T intron_variant PRAD-UK 13 70290147 70290147 single base substitution A T intron_variant PRAD-UK 13 70302326 70302326 single base substitution C A intron_variant PRAD-UK 13 70303631 70303631 single base substitution G A intron_variant PRAD-UK 13 70314594 70314594 single base substitution T C synonymous_variant Q385Q 1155A>G PRAD-UK 13 70314594 70314594 single base substitution T C synonymous_variant Q578Q 1734A>G PRAD-UK 13 70325555 70325555 insertion of <=200bp - A intron_variant PRAD-UK 13 70329359 70329359 insertion of <=200bp - TC intron_variant PRAD-UK 13 70329368 70329368 insertion of <=200bp - CT intron_variant PRAD-UK 13 70335505 70335505 single base substitution C G intron_variant PRAD-UK 13 70339864 70339864 single base substitution T A intron_variant PRAD-UK 13 70340616 70340616 insertion of <=200bp - AT intron_variant PRAD-UK 13 70340809 70340809 single base substitution T C intron_variant PRAD-UK 13 70341587 70341587 single base substitution C T intron_variant PRAD-UK 13 70356615 70356615 single base substitution G A intron_variant PRAD-UK 13 70357233 70357233 single base substitution C A intron_variant PRAD-UK 13 70360011 70360011 single base substitution A C intron_variant PRAD-UK 13 70365773 70365773 single base substitution G C intron_variant PRAD-UK 13 70368644 70368644 deletion of <=200bp A - intron_variant PRAD-UK 13 70381495 70381495 single base substitution G C intron_variant PRAD-UK 13 70388636 70388636 single base substitution A T intron_variant PRAD-UK 13 70407451 70407451 single base substitution A G intron_variant PRAD-UK 13 70423432 70423432 single base substitution A G intron_variant PRAD-UK 13 70429518 70429518 insertion of <=200bp - AGAGATAGAGATAGACAGAGATACAGATAGAGATAGAGAC intron_variant PRAD-UK 13 70429537 70429537 insertion of <=200bp - GATACAGATAGAGATAGAGACAGAGATAGAGATAGACAGT intron_variant PRAD-UK 13 70432984 70432984 single base substitution G T intron_variant PRAD-UK 13 70441106 70441106 single base substitution T G intron_variant PRAD-UK 13 70444883 70444883 single base substitution C A intron_variant PRAD-UK 13 70456824 70456824 single base substitution A T intron_variant PRAD-UK 13 70465430 70465430 single base substitution C A intron_variant PRAD-UK 13 70471388 70471388 single base substitution A T intron_variant PRAD-UK 13 70487372 70487372 single base substitution A T intron_variant PRAD-UK 13 70490827 70490827 single base substitution C A intron_variant PRAD-UK 13 70500342 70500365 deletion of <=200bp ATCTGCAGAGTCAAAGGGTGGCAT - intron_variant PRAD-UK 13 70507931 70507931 deletion of <=200bp A - intron_variant PRAD-UK 13 70508703 70508703 single base substitution C T intron_variant PRAD-UK 13 70526737 70526737 single base substitution A G intron_variant PRAD-UK 13 70538131 70538131 single base substitution A C intron_variant PRAD-UK 13 70543012 70543012 insertion of <=200bp - A intron_variant PRAD-UK 13 70553112 70553112 single base substitution C T intron_variant PRAD-UK 13 70553555 70553555 single base substitution T C intron_variant PRAD-UK 13 70558981 70558981 single base substitution C T intron_variant PRAD-UK 13 70584122 70584122 single base substitution A G intron_variant PRAD-UK 13 70606232 70606232 single base substitution G A intron_variant PRAD-UK 13 70610683 70610683 single base substitution T C intron_variant PRAD-UK 13 70617651 70617651 single base substitution G A intron_variant PRAD-UK 13 70620893 70620893 single base substitution G A intron_variant PRAD-UK 13 70626594 70626594 insertion of <=200bp - A intron_variant PRAD-UK 13 70631226 70631226 insertion of <=200bp - A intron_variant PRAD-UK 13 70641275 70641275 single base substitution A G intron_variant PRAD-UK 13 70642334 70642334 single base substitution G A intron_variant PRAD-UK 13 70649107 70649107 single base substitution A G intron_variant PRAD-UK 13 70652664 70652664 single base substitution G T intron_variant PRAD-UK 13 70652835 70652835 single base substitution A G intron_variant PRAD-UK 13 70657551 70657551 single base substitution C T intron_variant PRAD-UK 13 70662310 70662310 single base substitution G A intron_variant PRAD-UK 13 70673056 70673056 single base substitution T C intron_variant PRAD-UK 13 70681246 70681246 single base substitution C T intron_variant READ-US 13 70281775 70281775 single base substitution T G missense_variant Q530H 1590A>C READ-US 13 70281775 70281775 single base substitution T G missense_variant Q723H 2169A>C READ-US 13 70293502 70293502 single base substitution T G splice_region_variant READ-US 13 70681622 70681622 single base substitution C A 5_prime_UTR_variant READ-US 13 70681622 70681622 single base substitution C A missense_variant K70N 210G>T READ-US 13 70681742 70681742 single base substitution G A 5_prime_UTR_variant READ-US 13 70681742 70681742 single base substitution G A synonymous_variant G30G 90C>T RECA-EU 13 70270778 70270778 single base substitution T A downstream_gene_variant RECA-EU 13 70274315 70274315 single base substitution A T downstream_gene_variant RECA-EU 13 70301746 70301746 single base substitution G C intron_variant RECA-EU 13 70308800 70308800 single base substitution C T intron_variant RECA-EU 13 70310813 70310813 single base substitution T G intron_variant RECA-EU 13 70311293 70311293 single base substitution C A intron_variant RECA-EU 13 70327395 70327395 single base substitution A C intron_variant RECA-EU 13 70336929 70336929 single base substitution A T intron_variant RECA-EU 13 70344528 70344528 single base substitution C A intron_variant RECA-EU 13 70347943 70347943 single base substitution C T intron_variant RECA-EU 13 70355421 70355421 single base substitution T C intron_variant RECA-EU 13 70355822 70355822 single base substitution T G intron_variant RECA-EU 13 70356566 70356566 single base substitution G A intron_variant RECA-EU 13 70357046 70357046 single base substitution T C intron_variant RECA-EU 13 70357150 70357150 single base substitution T A intron_variant RECA-EU 13 70358036 70358036 single base substitution G C intron_variant RECA-EU 13 70363992 70363992 single base substitution C T intron_variant RECA-EU 13 70375620 70375620 single base substitution T A intron_variant RECA-EU 13 70376471 70376471 single base substitution G T intron_variant RECA-EU 13 70380093 70380093 single base substitution C T intron_variant RECA-EU 13 70384648 70384648 single base substitution T C intron_variant RECA-EU 13 70388365 70388365 single base substitution C T intron_variant RECA-EU 13 70417458 70417458 single base substitution A T intron_variant RECA-EU 13 70422989 70422989 single base substitution A G intron_variant RECA-EU 13 70422991 70422991 single base substitution A G intron_variant RECA-EU 13 70424393 70424393 single base substitution A T intron_variant RECA-EU 13 70437157 70437157 single base substitution A G intron_variant RECA-EU 13 70443127 70443127 single base substitution T C intron_variant RECA-EU 13 70444247 70444247 single base substitution A C intron_variant RECA-EU 13 70446159 70446159 single base substitution A G intron_variant RECA-EU 13 70448152 70448152 single base substitution A G intron_variant RECA-EU 13 70451941 70451941 single base substitution C T intron_variant RECA-EU 13 70472605 70472605 single base substitution G T intron_variant RECA-EU 13 70494346 70494346 single base substitution T C intron_variant RECA-EU 13 70502677 70502677 single base substitution G C intron_variant RECA-EU 13 70509338 70509338 single base substitution G C intron_variant RECA-EU 13 70516147 70516147 single base substitution C G intron_variant RECA-EU 13 70520607 70520607 single base substitution A G intron_variant RECA-EU 13 70520769 70520769 single base substitution C A intron_variant RECA-EU 13 70526985 70526985 single base substitution G A intron_variant RECA-EU 13 70527478 70527478 single base substitution G A intron_variant RECA-EU 13 70549086 70549086 single base substitution G C intron_variant RECA-EU 13 70549731 70549731 single base substitution A T intron_variant RECA-EU 13 70552213 70552213 single base substitution G A intron_variant RECA-EU 13 70564013 70564013 single base substitution T A intron_variant RECA-EU 13 70564461 70564461 single base substitution C T intron_variant RECA-EU 13 70575750 70575750 single base substitution C T intron_variant RECA-EU 13 70584302 70584302 single base substitution G T intron_variant RECA-EU 13 70588964 70588964 single base substitution T G intron_variant RECA-EU 13 70593702 70593702 single base substitution T A intron_variant RECA-EU 13 70595566 70595566 single base substitution C G intron_variant RECA-EU 13 70598776 70598776 single base substitution C T intron_variant RECA-EU 13 70598778 70598778 single base substitution C T intron_variant RECA-EU 13 70602570 70602570 single base substitution G A intron_variant RECA-EU 13 70606098 70606098 single base substitution A T intron_variant RECA-EU 13 70609125 70609125 single base substitution C A intron_variant RECA-EU 13 70623710 70623710 single base substitution A G intron_variant RECA-EU 13 70633103 70633103 single base substitution T C intron_variant RECA-EU 13 70634923 70634923 single base substitution A T intron_variant RECA-EU 13 70637404 70637404 single base substitution G C intron_variant RECA-EU 13 70642674 70642674 single base substitution A G intron_variant RECA-EU 13 70651745 70651745 single base substitution G T intron_variant RECA-EU 13 70657527 70657527 single base substitution C G intron_variant RECA-EU 13 70660883 70660883 single base substitution C T intron_variant RECA-EU 13 70665408 70665408 single base substitution C A intron_variant RECA-EU 13 70672394 70672394 single base substitution A G intron_variant RECA-EU 13 70674838 70674838 single base substitution T A intron_variant RECA-EU 13 70674839 70674839 single base substitution C A intron_variant RECA-EU 13 70678067 70678067 single base substitution A T intron_variant RECA-EU 13 70678628 70678628 single base substitution A T intron_variant SKCA-BR 13 70269820 70269820 single base substitution G A downstream_gene_variant SKCA-BR 13 70270284 70270284 single base substitution G T downstream_gene_variant SKCA-BR 13 70270938 70270938 single base substitution G A downstream_gene_variant SKCA-BR 13 70271958 70271958 single base substitution C T downstream_gene_variant SKCA-BR 13 70272106 70272106 single base substitution C T downstream_gene_variant SKCA-BR 13 70272524 70272524 single base substitution C T downstream_gene_variant SKCA-BR 13 70272847 70272847 single base substitution G T downstream_gene_variant SKCA-BR 13 70273011 70273011 insertion of <=200bp - TATATATATATACACACAC downstream_gene_variant SKCA-BR 13 70273063 70273063 single base substitution G A downstream_gene_variant SKCA-BR 13 70274218 70274218 single base substitution A C downstream_gene_variant SKCA-BR 13 70276484 70276484 single base substitution G A intron_variant SKCA-BR 13 70276661 70276661 single base substitution G A intron_variant SKCA-BR 13 70278089 70278089 single base substitution G A intron_variant SKCA-BR 13 70279669 70279669 single base substitution G A intron_variant SKCA-BR 13 70279885 70279885 single base substitution C T intron_variant SKCA-BR 13 70280086 70280086 single base substitution C T intron_variant SKCA-BR 13 70280431 70280431 single base substitution A T intron_variant SKCA-BR 13 70283307 70283307 single base substitution T G intron_variant SKCA-BR 13 70284348 70284348 single base substitution A G intron_variant SKCA-BR 13 70285846 70285846 single base substitution G A intron_variant SKCA-BR 13 70287364 70287364 single base substitution A T intron_variant SKCA-BR 13 70287401 70287401 single base substitution T C intron_variant SKCA-BR 13 70287832 70287832 single base substitution G A intron_variant SKCA-BR 13 70288237 70288237 single base substitution C T intron_variant SKCA-BR 13 70288775 70288775 single base substitution G A intron_variant SKCA-BR 13 70289434 70289434 single base substitution C T intron_variant SKCA-BR 13 70289657 70289657 single base substitution A T intron_variant SKCA-BR 13 70290121 70290121 single base substitution G A intron_variant SKCA-BR 13 70290537 70290537 single base substitution G A intron_variant SKCA-BR 13 70291063 70291063 single base substitution C T intron_variant SKCA-BR 13 70292361 70292361 single base substitution A G intron_variant SKCA-BR 13 70292711 70292711 single base substitution C T intron_variant SKCA-BR 13 70293268 70293268 single base substitution G A intron_variant SKCA-BR 13 70293409 70293409 single base substitution C T intron_variant SKCA-BR 13 70294361 70294361 single base substitution G A intron_variant SKCA-BR 13 70294457 70294457 single base substitution C T intron_variant SKCA-BR 13 70294474 70294474 single base substitution C T intron_variant SKCA-BR 13 70294678 70294678 single base substitution G A intron_variant SKCA-BR 13 70295404 70295404 single base substitution C T intron_variant SKCA-BR 13 70295427 70295427 single base substitution G A intron_variant SKCA-BR 13 70295569 70295569 single base substitution G A intron_variant SKCA-BR 13 70295772 70295772 single base substitution C T intron_variant SKCA-BR 13 70296766 70296766 single base substitution C A intron_variant SKCA-BR 13 70296847 70296847 single base substitution G A intron_variant SKCA-BR 13 70296859 70296859 single base substitution G A intron_variant SKCA-BR 13 70297366 70297366 single base substitution G A intron_variant SKCA-BR 13 70297972 70297972 insertion of <=200bp - ATT intron_variant SKCA-BR 13 70298826 70298826 single base substitution A G intron_variant SKCA-BR 13 70299599 70299599 single base substitution G A intron_variant SKCA-BR 13 70299920 70299920 single base substitution C T intron_variant SKCA-BR 13 70300318 70300318 single base substitution G A intron_variant SKCA-BR 13 70300406 70300406 single base substitution A G intron_variant SKCA-BR 13 70300836 70300836 single base substitution C T intron_variant SKCA-BR 13 70301114 70301114 single base substitution C T intron_variant SKCA-BR 13 70301260 70301260 single base substitution G A intron_variant SKCA-BR 13 70301633 70301633 single base substitution G A intron_variant SKCA-BR 13 70302095 70302095 single base substitution G A intron_variant SKCA-BR 13 70302354 70302354 single base substitution T G intron_variant SKCA-BR 13 70302711 70302711 single base substitution G A intron_variant SKCA-BR 13 70302875 70302875 single base substitution G A intron_variant SKCA-BR 13 70302960 70302960 single base substitution G A intron_variant SKCA-BR 13 70303439 70303439 single base substitution C T intron_variant SKCA-BR 13 70303648 70303648 single base substitution G A intron_variant SKCA-BR 13 70303818 70303818 single base substitution C T intron_variant SKCA-BR 13 70304713 70304713 single base substitution T A intron_variant SKCA-BR 13 70305009 70305009 single base substitution G A intron_variant SKCA-BR 13 70305460 70305460 single base substitution G A intron_variant SKCA-BR 13 70305582 70305582 single base substitution G A intron_variant SKCA-BR 13 70306225 70306225 single base substitution G A intron_variant SKCA-BR 13 70306671 70306671 single base substitution G A intron_variant SKCA-BR 13 70307890 70307890 single base substitution G A intron_variant SKCA-BR 13 70308013 70308013 single base substitution G A intron_variant SKCA-BR 13 70308420 70308420 single base substitution C T intron_variant SKCA-BR 13 70308815 70308815 single base substitution A C intron_variant SKCA-BR 13 70309145 70309145 single base substitution G A intron_variant SKCA-BR 13 70309328 70309328 single base substitution C T intron_variant SKCA-BR 13 70309429 70309429 single base substitution G A intron_variant SKCA-BR 13 70310468 70310468 single base substitution G T intron_variant SKCA-BR 13 70310873 70310873 single base substitution G A intron_variant SKCA-BR 13 70311825 70311825 single base substitution G A intron_variant SKCA-BR 13 70311986 70311986 single base substitution C T intron_variant SKCA-BR 13 70312228 70312228 single base substitution G A intron_variant SKCA-BR 13 70312541 70312541 single base substitution G A intron_variant SKCA-BR 13 70312783 70312783 single base substitution T C intron_variant SKCA-BR 13 70313189 70313189 single base substitution G A intron_variant SKCA-BR 13 70313822 70313822 single base substitution G A intron_variant SKCA-BR 13 70314171 70314171 single base substitution G A intron_variant SKCA-BR 13 70314441 70314441 single base substitution C T intron_variant SKCA-BR 13 70314658 70314658 single base substitution G A missense_variant A364V 1091C>T SKCA-BR 13 70314658 70314658 single base substitution G A missense_variant A557V 1670C>T SKCA-BR 13 70314709 70314709 single base substitution A G intron_variant SKCA-BR 13 70314731 70314731 single base substitution C T intron_variant SKCA-BR 13 70315816 70315816 single base substitution C T intron_variant SKCA-BR 13 70315953 70315953 single base substitution C T intron_variant SKCA-BR 13 70316754 70316754 single base substitution C T intron_variant SKCA-BR 13 70316992 70316992 single base substitution G A intron_variant SKCA-BR 13 70317435 70317435 single base substitution T C intron_variant SKCA-BR 13 70318379 70318379 single base substitution A C intron_variant SKCA-BR 13 70319001 70319001 single base substitution T G intron_variant SKCA-BR 13 70319339 70319339 single base substitution G A intron_variant SKCA-BR 13 70320027 70320027 single base substitution G A intron_variant SKCA-BR 13 70320970 70320970 single base substitution A T intron_variant SKCA-BR 13 70321927 70321927 single base substitution G A intron_variant SKCA-BR 13 70322330 70322330 single base substitution T G intron_variant SKCA-BR 13 70323270 70323270 single base substitution C T intron_variant SKCA-BR 13 70323799 70323799 single base substitution C T intron_variant SKCA-BR 13 70324954 70324954 single base substitution T A intron_variant SKCA-BR 13 70325825 70325825 single base substitution C T intron_variant SKCA-BR 13 70326074 70326074 single base substitution C T intron_variant SKCA-BR 13 70327094 70327094 single base substitution T C intron_variant SKCA-BR 13 70327296 70327296 single base substitution C T intron_variant SKCA-BR 13 70327533 70327533 single base substitution C T intron_variant SKCA-BR 13 70327654 70327654 single base substitution G A intron_variant SKCA-BR 13 70327711 70327711 single base substitution C T intron_variant SKCA-BR 13 70329307 70329307 single base substitution C T intron_variant SKCA-BR 13 70329760 70329760 single base substitution A G intron_variant SKCA-BR 13 70329987 70329987 single base substitution C T intron_variant SKCA-BR 13 70330650 70330650 single base substitution A G intron_variant SKCA-BR 13 70331267 70331267 single base substitution C T intron_variant SKCA-BR 13 70331786 70331786 single base substitution C T intron_variant SKCA-BR 13 70332277 70332277 single base substitution C T intron_variant SKCA-BR 13 70332295 70332295 single base substitution T C intron_variant SKCA-BR 13 70332911 70332911 single base substitution C T intron_variant SKCA-BR 13 70333178 70333178 single base substitution C T intron_variant SKCA-BR 13 70333580 70333580 single base substitution G A intron_variant SKCA-BR 13 70333841 70333841 single base substitution C T intron_variant SKCA-BR 13 70334517 70334517 single base substitution C T intron_variant SKCA-BR 13 70334658 70334658 single base substitution T C intron_variant SKCA-BR 13 70334982 70334982 single base substitution G A intron_variant SKCA-BR 13 70336641 70336641 single base substitution G A intron_variant SKCA-BR 13 70337855 70337855 single base substitution G A intron_variant SKCA-BR 13 70338486 70338486 single base substitution A C intron_variant SKCA-BR 13 70338524 70338524 single base substitution G A intron_variant SKCA-BR 13 70338955 70338955 single base substitution G A intron_variant SKCA-BR 13 70339664 70339664 single base substitution C T intron_variant SKCA-BR 13 70339750 70339750 single base substitution T C intron_variant SKCA-BR 13 70340406 70340406 single base substitution C T intron_variant SKCA-BR 13 70340821 70340821 single base substitution C T intron_variant SKCA-BR 13 70340984 70340984 single base substitution G A intron_variant SKCA-BR 13 70342569 70342569 single base substitution G A intron_variant SKCA-BR 13 70343492 70343492 single base substitution G A intron_variant SKCA-BR 13 70343615 70343615 single base substitution G A intron_variant SKCA-BR 13 70344011 70344011 single base substitution G A intron_variant SKCA-BR 13 70344683 70344683 single base substitution C T intron_variant SKCA-BR 13 70344711 70344711 single base substitution T C intron_variant SKCA-BR 13 70344763 70344763 single base substitution C T intron_variant SKCA-BR 13 70344764 70344764 single base substitution C T intron_variant SKCA-BR 13 70344793 70344793 single base substitution T G intron_variant SKCA-BR 13 70344865 70344865 single base substitution C T intron_variant SKCA-BR 13 70345260 70345260 single base substitution T C intron_variant SKCA-BR 13 70346193 70346193 single base substitution C T intron_variant SKCA-BR 13 70346467 70346467 single base substitution A C intron_variant SKCA-BR 13 70347932 70347932 single base substitution G A intron_variant SKCA-BR 13 70348251 70348251 single base substitution A C intron_variant SKCA-BR 13 70348384 70348384 single base substitution G A intron_variant SKCA-BR 13 70350062 70350062 single base substitution A G intron_variant SKCA-BR 13 70350727 70350727 single base substitution C T intron_variant SKCA-BR 13 70350850 70350850 single base substitution C T intron_variant SKCA-BR 13 70351456 70351456 single base substitution G A intron_variant SKCA-BR 13 70351954 70351954 single base substitution C T intron_variant SKCA-BR 13 70352372 70352372 single base substitution C T intron_variant SKCA-BR 13 70353401 70353401 single base substitution T C intron_variant SKCA-BR 13 70354430 70354430 single base substitution C T intron_variant SKCA-BR 13 70354776 70354776 single base substitution G A intron_variant SKCA-BR 13 70354788 70354788 single base substitution G A intron_variant SKCA-BR 13 70354817 70354817 insertion of <=200bp - CAT intron_variant SKCA-BR 13 70355135 70355135 single base substitution A C intron_variant SKCA-BR 13 70355355 70355355 single base substitution G A intron_variant SKCA-BR 13 70356829 70356829 single base substitution G A intron_variant SKCA-BR 13 70356830 70356830 single base substitution G A intron_variant SKCA-BR 13 70356938 70356938 single base substitution G T intron_variant SKCA-BR 13 70357224 70357224 single base substitution C T intron_variant SKCA-BR 13 70357744 70357744 single base substitution G A intron_variant SKCA-BR 13 70358187 70358187 single base substitution C T intron_variant SKCA-BR 13 70358313 70358313 single base substitution G A intron_variant SKCA-BR 13 70358344 70358344 single base substitution A C intron_variant SKCA-BR 13 70358392 70358392 single base substitution G A intron_variant SKCA-BR 13 70359006 70359006 single base substitution G A intron_variant SKCA-BR 13 70359218 70359218 single base substitution G T intron_variant SKCA-BR 13 70359653 70359653 single base substitution G A intron_variant SKCA-BR 13 70359879 70359879 single base substitution G A intron_variant SKCA-BR 13 70360055 70360055 single base substitution C T intron_variant SKCA-BR 13 70361979 70361979 single base substitution G A intron_variant SKCA-BR 13 70363006 70363006 single base substitution G A intron_variant SKCA-BR 13 70363090 70363090 single base substitution C T intron_variant SKCA-BR 13 70364423 70364423 single base substitution G A intron_variant SKCA-BR 13 70365709 70365709 single base substitution A C intron_variant SKCA-BR 13 70367780 70367780 single base substitution A G intron_variant SKCA-BR 13 70368630 70368630 single base substitution G A intron_variant SKCA-BR 13 70369753 70369753 single base substitution A C intron_variant SKCA-BR 13 70369843 70369843 single base substitution C T intron_variant SKCA-BR 13 70369873 70369873 single base substitution C T intron_variant SKCA-BR 13 70371175 70371175 single base substitution T A intron_variant SKCA-BR 13 70371869 70371869 single base substitution G A intron_variant SKCA-BR 13 70371915 70371915 single base substitution C T intron_variant SKCA-BR 13 70372614 70372614 single base substitution C T intron_variant SKCA-BR 13 70373472 70373472 single base substitution G A intron_variant SKCA-BR 13 70373859 70373859 single base substitution C T intron_variant SKCA-BR 13 70373987 70373987 single base substitution G A intron_variant SKCA-BR 13 70374002 70374002 single base substitution C T intron_variant SKCA-BR 13 70374003 70374003 single base substitution C T intron_variant SKCA-BR 13 70374008 70374008 single base substitution T A intron_variant SKCA-BR 13 70374009 70374009 single base substitution C T intron_variant SKCA-BR 13 70374233 70374233 single base substitution G A intron_variant SKCA-BR 13 70374496 70374496 single base substitution C T intron_variant SKCA-BR 13 70375257 70375257 single base substitution C T intron_variant SKCA-BR 13 70375281 70375281 single base substitution G A intron_variant SKCA-BR 13 70376758 70376758 single base substitution G A intron_variant SKCA-BR 13 70377003 70377003 single base substitution G A intron_variant SKCA-BR 13 70377159 70377159 single base substitution C T intron_variant SKCA-BR 13 70378521 70378521 single base substitution C T intron_variant SKCA-BR 13 70378803 70378803 single base substitution G A intron_variant SKCA-BR 13 70381336 70381336 single base substitution G A intron_variant SKCA-BR 13 70381509 70381509 single base substitution A G intron_variant SKCA-BR 13 70381673 70381673 single base substitution C T intron_variant SKCA-BR 13 70381712 70381712 single base substitution T A intron_variant SKCA-BR 13 70382579 70382579 single base substitution G A intron_variant SKCA-BR 13 70382634 70382634 single base substitution G A intron_variant SKCA-BR 13 70382984 70382984 single base substitution T C intron_variant SKCA-BR 13 70383878 70383878 single base substitution G A intron_variant SKCA-BR 13 70383940 70383940 single base substitution C T intron_variant SKCA-BR 13 70383964 70383964 single base substitution A G intron_variant SKCA-BR 13 70384053 70384053 single base substitution G A intron_variant SKCA-BR 13 70384281 70384281 single base substitution G A intron_variant SKCA-BR 13 70384567 70384567 single base substitution G A intron_variant SKCA-BR 13 70386284 70386284 single base substitution C T intron_variant SKCA-BR 13 70386680 70386680 single base substitution G A intron_variant SKCA-BR 13 70387049 70387049 single base substitution A G intron_variant SKCA-BR 13 70387613 70387613 insertion of <=200bp - TACACACAC intron_variant SKCA-BR 13 70388161 70388161 single base substitution G A intron_variant SKCA-BR 13 70388806 70388806 single base substitution C T intron_variant SKCA-BR 13 70389354 70389354 single base substitution G A intron_variant SKCA-BR 13 70392476 70392476 single base substitution C T intron_variant SKCA-BR 13 70392629 70392629 single base substitution G A intron_variant SKCA-BR 13 70392797 70392797 single base substitution C T intron_variant SKCA-BR 13 70392807 70392807 single base substitution G A intron_variant SKCA-BR 13 70393057 70393057 single base substitution C T intron_variant SKCA-BR 13 70393299 70393299 single base substitution C T intron_variant SKCA-BR 13 70393879 70393879 single base substitution C T intron_variant SKCA-BR 13 70394036 70394036 single base substitution G A intron_variant SKCA-BR 13 70395608 70395608 single base substitution G T intron_variant SKCA-BR 13 70396544 70396544 single base substitution T A intron_variant SKCA-BR 13 70398507 70398507 single base substitution G A intron_variant SKCA-BR 13 70398800 70398800 single base substitution C T intron_variant SKCA-BR 13 70399161 70399161 single base substitution T A intron_variant SKCA-BR 13 70399363 70399363 single base substitution G A intron_variant SKCA-BR 13 70400911 70400911 single base substitution C T intron_variant SKCA-BR 13 70401849 70401849 single base substitution G A intron_variant SKCA-BR 13 70402273 70402273 single base substitution G A intron_variant SKCA-BR 13 70402767 70402767 single base substitution C T intron_variant SKCA-BR 13 70403746 70403746 single base substitution A C intron_variant SKCA-BR 13 70405854 70405854 single base substitution C T intron_variant SKCA-BR 13 70405923 70405923 single base substitution C T intron_variant SKCA-BR 13 70405963 70405963 single base substitution G A intron_variant SKCA-BR 13 70406549 70406549 single base substitution G A intron_variant SKCA-BR 13 70406742 70406742 single base substitution G A intron_variant SKCA-BR 13 70407392 70407392 single base substitution G A intron_variant SKCA-BR 13 70407577 70407577 single base substitution T A intron_variant SKCA-BR 13 70407770 70407770 single base substitution G A intron_variant SKCA-BR 13 70407931 70407933 deletion of <=200bp CTA - intron_variant SKCA-BR 13 70408216 70408216 single base substitution G A intron_variant SKCA-BR 13 70409540 70409540 single base substitution G A intron_variant SKCA-BR 13 70411059 70411060 deletion of <=200bp TA - intron_variant SKCA-BR 13 70411129 70411129 single base substitution G T intron_variant SKCA-BR 13 70411992 70411992 insertion of <=200bp - TC intron_variant SKCA-BR 13 70412337 70412337 single base substitution A C intron_variant SKCA-BR 13 70413255 70413255 single base substitution C T missense_variant D230N 688G>A SKCA-BR 13 70413255 70413255 single base substitution C T missense_variant D423N 1267G>A SKCA-BR 13 70414816 70414816 insertion of <=200bp - TTA intron_variant SKCA-BR 13 70414834 70414834 single base substitution G A intron_variant SKCA-BR 13 70415343 70415343 single base substitution G A intron_variant SKCA-BR 13 70415986 70415986 single base substitution G A intron_variant SKCA-BR 13 70420171 70420171 single base substitution T A intron_variant SKCA-BR 13 70422311 70422311 single base substitution C T intron_variant SKCA-BR 13 70423225 70423225 single base substitution C T intron_variant SKCA-BR 13 70423579 70423579 single base substitution G A intron_variant SKCA-BR 13 70424148 70424148 single base substitution G A intron_variant SKCA-BR 13 70424749 70424749 single base substitution G A intron_variant SKCA-BR 13 70426765 70426765 single base substitution C T intron_variant SKCA-BR 13 70427432 70427432 single base substitution G A intron_variant SKCA-BR 13 70429453 70429485 deletion of <=200bp TAGATAGATAGATAGATAGATAGATAGACAGAC - intron_variant SKCA-BR 13 70429461 70429485 deletion of <=200bp TAGATAGATAGATAGATAGACAGAC - intron_variant SKCA-BR 13 70429465 70429485 deletion of <=200bp TAGATAGATAGATAGACAGAC - intron_variant SKCA-BR 13 70429481 70429481 single base substitution C T intron_variant SKCA-BR 13 70429485 70429485 single base substitution C T intron_variant SKCA-BR 13 70429491 70429491 single base substitution G C intron_variant SKCA-BR 13 70429551 70429551 single base substitution T C intron_variant SKCA-BR 13 70429773 70429773 single base substitution C T intron_variant SKCA-BR 13 70429812 70429812 single base substitution T C intron_variant SKCA-BR 13 70432215 70432215 single base substitution G A intron_variant SKCA-BR 13 70433405 70433406 deletion of <=200bp TC - intron_variant SKCA-BR 13 70433637 70433637 single base substitution C T intron_variant SKCA-BR 13 70435925 70435925 single base substitution A C intron_variant SKCA-BR 13 70436029 70436029 single base substitution G A intron_variant SKCA-BR 13 70436097 70436112 deletion of <=200bp CAAAATAAAATAAAAT - intron_variant SKCA-BR 13 70437431 70437431 single base substitution G A intron_variant SKCA-BR 13 70439530 70439530 single base substitution T A intron_variant SKCA-BR 13 70439761 70439761 single base substitution A T intron_variant SKCA-BR 13 70440396 70440396 single base substitution C T intron_variant SKCA-BR 13 70442405 70442405 single base substitution G A intron_variant SKCA-BR 13 70444168 70444168 single base substitution A G intron_variant SKCA-BR 13 70444753 70444753 single base substitution C T intron_variant SKCA-BR 13 70445560 70445560 single base substitution C T intron_variant SKCA-BR 13 70446111 70446111 single base substitution C T intron_variant SKCA-BR 13 70447064 70447064 single base substitution A T intron_variant SKCA-BR 13 70449070 70449070 single base substitution C T intron_variant SKCA-BR 13 70449956 70449956 single base substitution G A intron_variant SKCA-BR 13 70451796 70451796 single base substitution C T intron_variant SKCA-BR 13 70453097 70453097 single base substitution G A intron_variant SKCA-BR 13 70454367 70454367 single base substitution C T intron_variant SKCA-BR 13 70454509 70454509 single base substitution C T intron_variant SKCA-BR 13 70456193 70456193 single base substitution A T intron_variant SKCA-BR 13 70456256 70456256 single base substitution C T intron_variant SKCA-BR 13 70458165 70458165 single base substitution C T intron_variant SKCA-BR 13 70459066 70459066 insertion of <=200bp - CTTTTCT intron_variant SKCA-BR 13 70459071 70459071 single base substitution T C intron_variant SKCA-BR 13 70459490 70459490 single base substitution G A intron_variant SKCA-BR 13 70459617 70459617 single base substitution C T intron_variant SKCA-BR 13 70461160 70461160 single base substitution C T intron_variant SKCA-BR 13 70461407 70461407 single base substitution G A intron_variant SKCA-BR 13 70461431 70461431 single base substitution C T intron_variant SKCA-BR 13 70461489 70461489 single base substitution C T intron_variant SKCA-BR 13 70462305 70462305 single base substitution G T intron_variant SKCA-BR 13 70462634 70462634 single base substitution C T intron_variant SKCA-BR 13 70463779 70463779 single base substitution G A intron_variant SKCA-BR 13 70464135 70464135 single base substitution G A intron_variant SKCA-BR 13 70464171 70464171 single base substitution G T intron_variant SKCA-BR 13 70465164 70465164 single base substitution G A intron_variant SKCA-BR 13 70465302 70465302 single base substitution C T intron_variant SKCA-BR 13 70466379 70466379 single base substitution A G intron_variant SKCA-BR 13 70466548 70466548 single base substitution C T intron_variant SKCA-BR 13 70467216 70467216 single base substitution T A intron_variant SKCA-BR 13 70468625 70468625 single base substitution C T intron_variant SKCA-BR 13 70469766 70469766 single base substitution C T intron_variant SKCA-BR 13 70469798 70469798 single base substitution C T intron_variant SKCA-BR 13 70469820 70469820 single base substitution G A intron_variant SKCA-BR 13 70469845 70469845 insertion of <=200bp - CT intron_variant SKCA-BR 13 70469907 70469907 single base substitution C T intron_variant SKCA-BR 13 70470705 70470705 single base substitution G T intron_variant SKCA-BR 13 70472027 70472027 single base substitution C T intron_variant SKCA-BR 13 70472613 70472613 single base substitution G A intron_variant SKCA-BR 13 70473614 70473614 single base substitution G A intron_variant SKCA-BR 13 70474580 70474580 single base substitution G A intron_variant SKCA-BR 13 70474581 70474581 single base substitution G A intron_variant SKCA-BR 13 70474704 70474704 single base substitution G A intron_variant SKCA-BR 13 70474813 70474813 single base substitution C T intron_variant SKCA-BR 13 70475086 70475086 single base substitution C T intron_variant SKCA-BR 13 70475264 70475264 single base substitution G A intron_variant SKCA-BR 13 70475922 70475927 deletion of <=200bp TTTTTC - intron_variant SKCA-BR 13 70475923 70475927 deletion of <=200bp TTTTC - intron_variant SKCA-BR 13 70477452 70477452 single base substitution C T intron_variant SKCA-BR 13 70478522 70478522 single base substitution C T intron_variant SKCA-BR 13 70479164 70479164 single base substitution T A intron_variant SKCA-BR 13 70482741 70482741 single base substitution C T intron_variant SKCA-BR 13 70482937 70482937 single base substitution C T intron_variant SKCA-BR 13 70483222 70483222 insertion of <=200bp - AAT intron_variant SKCA-BR 13 70483549 70483549 single base substitution G A intron_variant SKCA-BR 13 70483667 70483667 insertion of <=200bp - AT intron_variant SKCA-BR 13 70484007 70484007 single base substitution C T intron_variant SKCA-BR 13 70484181 70484181 single base substitution A C intron_variant SKCA-BR 13 70484238 70484238 single base substitution C T intron_variant SKCA-BR 13 70484345 70484345 single base substitution C T intron_variant SKCA-BR 13 70484746 70484746 single base substitution G A intron_variant SKCA-BR 13 70485169 70485169 single base substitution T C intron_variant SKCA-BR 13 70485560 70485560 single base substitution G A intron_variant SKCA-BR 13 70487046 70487046 single base substitution G A intron_variant SKCA-BR 13 70487441 70487441 single base substitution C T intron_variant SKCA-BR 13 70487741 70487741 single base substitution C T intron_variant SKCA-BR 13 70487775 70487775 single base substitution A T intron_variant SKCA-BR 13 70488112 70488112 single base substitution G A intron_variant SKCA-BR 13 70488473 70488473 single base substitution A T intron_variant SKCA-BR 13 70489550 70489550 single base substitution G A intron_variant SKCA-BR 13 70489819 70489819 single base substitution G A intron_variant SKCA-BR 13 70489820 70489820 single base substitution G A intron_variant SKCA-BR 13 70490236 70490236 single base substitution G A intron_variant SKCA-BR 13 70495410 70495410 single base substitution C T intron_variant SKCA-BR 13 70496497 70496497 single base substitution A G intron_variant SKCA-BR 13 70497015 70497015 single base substitution C T intron_variant SKCA-BR 13 70498104 70498104 single base substitution C A intron_variant SKCA-BR 13 70498347 70498347 single base substitution C T intron_variant SKCA-BR 13 70498771 70498771 single base substitution G A intron_variant SKCA-BR 13 70500404 70500404 single base substitution G A intron_variant SKCA-BR 13 70501620 70501620 single base substitution A G intron_variant SKCA-BR 13 70502113 70502113 single base substitution T C intron_variant SKCA-BR 13 70505051 70505051 single base substitution C T intron_variant SKCA-BR 13 70506353 70506353 single base substitution G A intron_variant SKCA-BR 13 70509339 70509339 insertion of <=200bp - TACTGGTGAACTTGGTACATAGTTCACCC intron_variant SKCA-BR 13 70509394 70509394 insertion of <=200bp - CCACTGGTGAACTTGGTACATAG intron_variant SKCA-BR 13 70509395 70509395 single base substitution T C intron_variant SKCA-BR 13 70511557 70511557 single base substitution C T intron_variant SKCA-BR 13 70511984 70511984 single base substitution C T intron_variant SKCA-BR 13 70512804 70512804 single base substitution T C intron_variant SKCA-BR 13 70513626 70513626 single base substitution G A intron_variant SKCA-BR 13 70513907 70513907 single base substitution C T intron_variant SKCA-BR 13 70514893 70514893 single base substitution G T intron_variant SKCA-BR 13 70514970 70514970 single base substitution C T intron_variant SKCA-BR 13 70517171 70517171 single base substitution C T intron_variant SKCA-BR 13 70517933 70517933 single base substitution G A intron_variant SKCA-BR 13 70518410 70518410 single base substitution C T intron_variant SKCA-BR 13 70519186 70519186 single base substitution T C intron_variant SKCA-BR 13 70519594 70519595 deletion of <=200bp GA - intron_variant SKCA-BR 13 70523522 70523522 single base substitution G A intron_variant SKCA-BR 13 70524335 70524335 single base substitution C T intron_variant SKCA-BR 13 70524614 70524614 single base substitution G A intron_variant SKCA-BR 13 70525126 70525126 single base substitution G A intron_variant SKCA-BR 13 70526211 70526211 single base substitution T C intron_variant SKCA-BR 13 70526443 70526443 single base substitution C T intron_variant SKCA-BR 13 70526498 70526498 single base substitution C T intron_variant SKCA-BR 13 70527620 70527620 single base substitution G A intron_variant SKCA-BR 13 70527768 70527768 single base substitution A G intron_variant SKCA-BR 13 70527791 70527791 single base substitution G A intron_variant SKCA-BR 13 70530128 70530159 deletion of <=200bp GATATATATTTATATATATTTGATATATATTT - intron_variant SKCA-BR 13 70530158 70530158 single base substitution T A intron_variant SKCA-BR 13 70530160 70530160 single base substitution A T intron_variant SKCA-BR 13 70530168 70530174 deletion of <=200bp TTATATA - intron_variant SKCA-BR 13 70530219 70530219 single base substitution T G intron_variant SKCA-BR 13 70530239 70530248 deletion of <=200bp TTATATTTGA - intron_variant SKCA-BR 13 70532939 70532939 single base substitution C T intron_variant SKCA-BR 13 70537936 70537936 single base substitution G A intron_variant SKCA-BR 13 70538998 70538998 single base substitution C T intron_variant SKCA-BR 13 70539247 70539247 single base substitution G A intron_variant SKCA-BR 13 70539954 70539954 single base substitution A C intron_variant SKCA-BR 13 70541509 70541509 single base substitution G A intron_variant SKCA-BR 13 70541960 70541960 single base substitution T G intron_variant SKCA-BR 13 70542302 70542302 single base substitution C A intron_variant SKCA-BR 13 70542458 70542471 deletion of <=200bp AACTGATATATTTG - intron_variant SKCA-BR 13 70542459 70542472 deletion of <=200bp ACTGATATATTTGC - intron_variant SKCA-BR 13 70545154 70545154 single base substitution T A intron_variant SKCA-BR 13 70548334 70548334 single base substitution C T intron_variant SKCA-BR 13 70549300 70549300 single base substitution G A intron_variant SKCA-BR 13 70549366 70549366 single base substitution G A intron_variant SKCA-BR 13 70551525 70551525 single base substitution G T intron_variant SKCA-BR 13 70551894 70551894 single base substitution A T intron_variant SKCA-BR 13 70552321 70552321 single base substitution T A intron_variant SKCA-BR 13 70552620 70552621 deletion of <=200bp AT - intron_variant SKCA-BR 13 70553035 70553035 single base substitution G A intron_variant SKCA-BR 13 70553309 70553311 deletion of <=200bp AAT - intron_variant SKCA-BR 13 70555957 70555957 single base substitution T G intron_variant SKCA-BR 13 70558393 70558393 single base substitution C T intron_variant SKCA-BR 13 70558963 70558963 single base substitution G T intron_variant SKCA-BR 13 70562023 70562023 single base substitution T C intron_variant SKCA-BR 13 70562231 70562231 single base substitution A G intron_variant SKCA-BR 13 70562891 70562891 single base substitution T A intron_variant SKCA-BR 13 70562892 70562892 single base substitution C T intron_variant SKCA-BR 13 70562942 70562942 single base substitution G A intron_variant SKCA-BR 13 70563008 70563008 single base substitution A T intron_variant SKCA-BR 13 70563772 70563772 single base substitution G A intron_variant SKCA-BR 13 70565244 70565244 single base substitution C T intron_variant SKCA-BR 13 70565751 70565751 single base substitution C T intron_variant SKCA-BR 13 70567760 70567760 single base substitution A C intron_variant SKCA-BR 13 70567920 70567920 single base substitution G A intron_variant SKCA-BR 13 70568072 70568072 single base substitution G A intron_variant SKCA-BR 13 70569141 70569141 single base substitution C A intron_variant SKCA-BR 13 70569166 70569166 single base substitution G A intron_variant SKCA-BR 13 70570725 70570725 single base substitution A T intron_variant SKCA-BR 13 70572521 70572521 single base substitution T A intron_variant SKCA-BR 13 70573707 70573707 single base substitution A C intron_variant SKCA-BR 13 70574235 70574235 single base substitution C A intron_variant SKCA-BR 13 70575713 70575713 insertion of <=200bp - GTCTATCTA intron_variant SKCA-BR 13 70576534 70576534 single base substitution G A intron_variant SKCA-BR 13 70576953 70576953 single base substitution G A intron_variant SKCA-BR 13 70578081 70578081 single base substitution G A intron_variant SKCA-BR 13 70579162 70579162 single base substitution G A intron_variant SKCA-BR 13 70579813 70579813 single base substitution C T intron_variant SKCA-BR 13 70579871 70579871 single base substitution A T intron_variant SKCA-BR 13 70580650 70580650 single base substitution C T intron_variant SKCA-BR 13 70580841 70580841 single base substitution G A intron_variant SKCA-BR 13 70584099 70584099 single base substitution G C intron_variant SKCA-BR 13 70585730 70585730 single base substitution C T intron_variant SKCA-BR 13 70586943 70586943 single base substitution G A intron_variant SKCA-BR 13 70588991 70588991 single base substitution C T intron_variant SKCA-BR 13 70589285 70589285 single base substitution A C intron_variant SKCA-BR 13 70590712 70590712 single base substitution C T intron_variant SKCA-BR 13 70590713 70590713 single base substitution C T intron_variant SKCA-BR 13 70591380 70591380 single base substitution C T intron_variant SKCA-BR 13 70595136 70595136 single base substitution A G intron_variant SKCA-BR 13 70596404 70596420 deletion of <=200bp CGTGTGTGTTTGTGTGT - intron_variant SKCA-BR 13 70596421 70596437 deletion of <=200bp GTGTGTGTGTGTGTGTA - intron_variant SKCA-BR 13 70598768 70598768 insertion of <=200bp - CTT intron_variant SKCA-BR 13 70598770 70598770 single base substitution C T intron_variant SKCA-BR 13 70598776 70598776 single base substitution C T intron_variant SKCA-BR 13 70598778 70598778 single base substitution C T intron_variant SKCA-BR 13 70603430 70603430 single base substitution C T intron_variant SKCA-BR 13 70604117 70604117 single base substitution G C intron_variant SKCA-BR 13 70604209 70604209 single base substitution C T intron_variant SKCA-BR 13 70605247 70605248 deletion of <=200bp CA - intron_variant SKCA-BR 13 70607039 70607039 single base substitution C T intron_variant SKCA-BR 13 70608095 70608095 single base substitution G A intron_variant SKCA-BR 13 70608954 70608954 single base substitution A G intron_variant SKCA-BR 13 70608956 70608956 single base substitution T A intron_variant SKCA-BR 13 70609638 70609638 single base substitution G C intron_variant SKCA-BR 13 70610343 70610343 single base substitution A G intron_variant SKCA-BR 13 70612412 70612412 single base substitution T C intron_variant SKCA-BR 13 70613188 70613188 insertion of <=200bp - AT intron_variant SKCA-BR 13 70613221 70613221 single base substitution T G intron_variant SKCA-BR 13 70613640 70613640 single base substitution C T intron_variant SKCA-BR 13 70614421 70614421 single base substitution G A intron_variant SKCA-BR 13 70614723 70614723 single base substitution C T intron_variant SKCA-BR 13 70615236 70615236 single base substitution T G intron_variant SKCA-BR 13 70615861 70615861 single base substitution C T intron_variant SKCA-BR 13 70621021 70621021 single base substitution G A intron_variant SKCA-BR 13 70621685 70621685 single base substitution C T intron_variant SKCA-BR 13 70622697 70622697 single base substitution C T intron_variant SKCA-BR 13 70625968 70625968 single base substitution A G intron_variant SKCA-BR 13 70629942 70629942 single base substitution T C intron_variant SKCA-BR 13 70630008 70630008 single base substitution T C intron_variant SKCA-BR 13 70630402 70630402 single base substitution C T intron_variant SKCA-BR 13 70631110 70631110 single base substitution G A intron_variant SKCA-BR 13 70631669 70631669 single base substitution G A intron_variant SKCA-BR 13 70632095 70632095 single base substitution C T intron_variant SKCA-BR 13 70632350 70632350 single base substitution C T intron_variant SKCA-BR 13 70632602 70632602 single base substitution C T intron_variant SKCA-BR 13 70633289 70633289 insertion of <=200bp - CT intron_variant SKCA-BR 13 70633289 70633290 deletion of <=200bp CT - intron_variant SKCA-BR 13 70634670 70634670 insertion of <=200bp - CA intron_variant SKCA-BR 13 70635254 70635254 single base substitution C T intron_variant SKCA-BR 13 70636208 70636208 single base substitution A C intron_variant SKCA-BR 13 70636234 70636234 single base substitution C T intron_variant SKCA-BR 13 70638480 70638480 single base substitution G A intron_variant SKCA-BR 13 70639457 70639457 single base substitution C G intron_variant SKCA-BR 13 70641703 70641703 single base substitution C T intron_variant SKCA-BR 13 70641898 70641898 single base substitution G A intron_variant SKCA-BR 13 70642079 70642079 single base substitution C T intron_variant SKCA-BR 13 70642326 70642326 single base substitution G A intron_variant SKCA-BR 13 70642502 70642502 insertion of <=200bp - CA intron_variant SKCA-BR 13 70643061 70643061 single base substitution G A intron_variant SKCA-BR 13 70644890 70644890 single base substitution T G intron_variant SKCA-BR 13 70645022 70645022 single base substitution G A intron_variant SKCA-BR 13 70645524 70645524 single base substitution G A intron_variant SKCA-BR 13 70646024 70646024 single base substitution C T intron_variant SKCA-BR 13 70646839 70646839 single base substitution C T intron_variant SKCA-BR 13 70646951 70646951 insertion of <=200bp - TA intron_variant SKCA-BR 13 70647085 70647085 single base substitution G A intron_variant SKCA-BR 13 70647964 70647964 single base substitution C T intron_variant SKCA-BR 13 70648217 70648217 single base substitution C T intron_variant SKCA-BR 13 70648218 70648218 single base substitution C T intron_variant SKCA-BR 13 70649703 70649703 single base substitution A G intron_variant SKCA-BR 13 70649720 70649720 insertion of <=200bp - TATATATATATATAC intron_variant SKCA-BR 13 70650018 70650018 single base substitution A T intron_variant SKCA-BR 13 70650316 70650316 single base substitution G A intron_variant SKCA-BR 13 70651821 70651821 single base substitution G A intron_variant SKCA-BR 13 70652181 70652181 single base substitution G A intron_variant SKCA-BR 13 70654168 70654168 single base substitution G A intron_variant SKCA-BR 13 70654789 70654789 single base substitution C T intron_variant SKCA-BR 13 70657549 70657549 single base substitution A T intron_variant SKCA-BR 13 70658596 70658596 single base substitution C T intron_variant SKCA-BR 13 70658770 70658770 single base substitution T A intron_variant SKCA-BR 13 70658865 70658865 single base substitution C T intron_variant SKCA-BR 13 70660000 70660000 single base substitution C T intron_variant SKCA-BR 13 70660478 70660478 single base substitution G A intron_variant SKCA-BR 13 70660691 70660691 single base substitution G A intron_variant SKCA-BR 13 70660722 70660734 deletion of <=200bp AAAAGAAAGAAAG - intron_variant SKCA-BR 13 70662273 70662273 single base substitution G A intron_variant SKCA-BR 13 70668525 70668525 insertion of <=200bp - TTATATATATATATATATATATATA intron_variant SKCA-BR 13 70669297 70669297 single base substitution G A intron_variant SKCA-BR 13 70671124 70671124 single base substitution C T intron_variant SKCA-BR 13 70671929 70671929 single base substitution C T intron_variant SKCA-BR 13 70676218 70676218 single base substitution C T intron_variant SKCA-BR 13 70679598 70679598 single base substitution G A intron_variant SKCA-BR 13 70681727 70681727 single base substitution T C 5_prime_UTR_variant SKCA-BR 13 70681727 70681727 single base substitution T C synonymous_variant G35G 105A>G SKCA-BR 13 70682500 70682500 single base substitution T A 5_prime_UTR_variant SKCA-BR 13 70682500 70682500 single base substitution T A upstream_gene_variant SKCA-BR 13 70682539 70682539 single base substitution C A 5_prime_UTR_variant SKCA-BR 13 70682539 70682539 single base substitution C A upstream_gene_variant SKCA-BR 13 70683374 70683374 single base substitution G C upstream_gene_variant SKCA-BR 13 70685421 70685421 single base substitution A G upstream_gene_variant SKCA-BR 13 70685559 70685559 single base substitution C A upstream_gene_variant SKCA-BR 13 70687058 70687058 single base substitution T A upstream_gene_variant SKCA-BR 13 70687225 70687225 single base substitution C T upstream_gene_variant SKCM-US 13 70275840 70275840 single base substitution T C synonymous_variant Q554Q 1662A>G SKCM-US 13 70275840 70275840 single base substitution T C synonymous_variant Q747Q 2241A>G SKCM-US 13 70275875 70275875 single base substitution C A missense_variant G543W 1627G>T SKCM-US 13 70275875 70275875 single base substitution C A missense_variant G736W 2206G>T SKCM-US 13 70281842 70281842 single base substitution C T missense_variant R508K 1523G>A SKCM-US 13 70281842 70281842 single base substitution C T missense_variant R701K 2102G>A SKCM-US 13 70281853 70281853 single base substitution G A synonymous_variant L504L 1512C>T SKCM-US 13 70281853 70281853 single base substitution G A synonymous_variant L697L 2091C>T SKCM-US 13 70281891 70281891 single base substitution G A missense_variant P492S 1474C>T SKCM-US 13 70281891 70281891 single base substitution G A missense_variant P685S 2053C>T SKCM-US 13 70281924 70281924 single base substitution C T missense_variant D481N 1441G>A SKCM-US 13 70281924 70281924 single base substitution C T missense_variant D674N 2020G>A SKCM-US 13 70293603 70293603 single base substitution C T missense_variant G445E 1334G>A SKCM-US 13 70293603 70293603 single base substitution C T missense_variant G638E 1913G>A SKCM-US 13 70293634 70293634 single base substitution T C missense_variant N435D 1303A>G SKCM-US 13 70293634 70293634 single base substitution T C missense_variant N628D 1882A>G SKCM-US 13 70293705 70293705 single base substitution G A missense_variant S411L 1232C>T SKCM-US 13 70293705 70293705 single base substitution G A missense_variant S604L 1811C>T SKCM-US 13 70314530 70314530 single base substitution C T missense_variant G407S 1219G>A SKCM-US 13 70314530 70314530 single base substitution C T missense_variant G600S 1798G>A SKCM-US 13 70314559 70314559 single base substitution C T missense_variant R397Q 1190G>A SKCM-US 13 70314559 70314559 single base substitution C T missense_variant R590Q 1769G>A SKCM-US 13 70314608 70314608 single base substitution C T missense_variant D381N 1141G>A SKCM-US 13 70314608 70314608 single base substitution C T missense_variant D574N 1720G>A SKCM-US 13 70314627 70314627 single base substitution C T synonymous_variant L374L 1122G>A SKCM-US 13 70314627 70314627 single base substitution C T synonymous_variant L567L 1701G>A SKCM-US 13 70371006 70371006 single base substitution C T synonymous_variant V308V 924G>A SKCM-US 13 70371006 70371006 single base substitution C T synonymous_variant V501V 1503G>A SKCM-US 13 70371056 70371056 single base substitution G A synonymous_variant L292L 874C>T SKCM-US 13 70371056 70371056 single base substitution G A synonymous_variant L485L 1453C>T SKCM-US 13 70371071 70371071 single base substitution C T missense_variant D287N 859G>A SKCM-US 13 70371071 70371071 single base substitution C T missense_variant D480N 1438G>A SKCM-US 13 70413255 70413255 single base substitution C T missense_variant D230N 688G>A SKCM-US 13 70413255 70413255 single base substitution C T missense_variant D423N 1267G>A SKCM-US 13 70413256 70413256 single base substitution A G synonymous_variant N229N 687T>C SKCM-US 13 70413256 70413256 single base substitution A G synonymous_variant N422N 1266T>C SKCM-US 13 70456507 70456507 single base substitution A T missense_variant L186M 556T>A SKCM-US 13 70456507 70456507 single base substitution A T missense_variant L379M 1135T>A SKCM-US 13 70456521 70456521 single base substitution G A missense_variant T181I 542C>T SKCM-US 13 70456521 70456521 single base substitution G A missense_variant T374I 1121C>T SKCM-US 13 70514274 70514274 single base substitution G A synonymous_variant F111F 333C>T SKCM-US 13 70514274 70514274 single base substitution G A synonymous_variant F304F 912C>T SKCM-US 13 70514312 70514312 single base substitution G A missense_variant L292F 874C>T SKCM-US 13 70514312 70514312 single base substitution G A missense_variant L99F 295C>T SKCM-US 13 70514339 70514339 single base substitution C T missense_variant E283K 847G>A SKCM-US 13 70514339 70514339 single base substitution C T missense_variant E90K 268G>A SKCM-US 13 70514348 70514348 single base substitution C T missense_variant D280N 838G>A SKCM-US 13 70514348 70514348 single base substitution C T missense_variant D87N 259G>A SKCM-US 13 70535503 70535503 single base substitution C T missense_variant E252K 754G>A SKCM-US 13 70535503 70535503 single base substitution C T missense_variant E59K 175G>A SKCM-US 13 70535554 70535554 single base substitution C T missense_variant D235N 703G>A SKCM-US 13 70535554 70535554 single base substitution C T missense_variant D42N 124G>A SKCM-US 13 70549773 70549773 single base substitution T C intron_variant SKCM-US 13 70549773 70549773 single base substitution T C missense_variant N220S 659A>G SKCM-US 13 70549852 70549852 single base substitution G A intron_variant SKCM-US 13 70549852 70549852 single base substitution G A missense_variant H194Y 580C>T SKCM-US 13 70681351 70681351 single base substitution C T missense_variant E161K 481G>A SKCM-US 13 70681351 70681351 single base substitution C T missense_variant E29K 85G>A SKCM-US 13 70681382 70681382 single base substitution C T synonymous_variant V150V 450G>A SKCM-US 13 70681382 70681382 single base substitution C T synonymous_variant V18V 54G>A SKCM-US 13 70681510 70681510 single base substitution G A 5_prime_UTR_variant SKCM-US 13 70681510 70681510 single base substitution G A missense_variant P108S 322C>T SKCM-US 13 70681625 70681625 single base substitution C T 5_prime_UTR_variant SKCM-US 13 70681625 70681625 single base substitution C T stop_gained W69* 207G>A SKCM-US 13 70681651 70681651 single base substitution C T 5_prime_UTR_variant SKCM-US 13 70681651 70681651 single base substitution C T missense_variant E61K 181G>A STAD-US 13 70275859 70275859 single base substitution C T missense_variant C548Y 1643G>A STAD-US 13 70275859 70275859 single base substitution C T missense_variant C741Y 2222G>A STAD-US 13 70293600 70293600 deletion of <=200bp C - frameshift_variant G446 STAD-US 13 70293600 70293600 deletion of <=200bp C - frameshift_variant G639 STAD-US 13 70314635 70314635 single base substitution T C missense_variant S372G 1114A>G STAD-US 13 70314635 70314635 single base substitution T C missense_variant S565G 1693A>G STAD-US 13 70314643 70314643 single base substitution T G missense_variant D369A 1106A>C STAD-US 13 70314643 70314643 single base substitution T G missense_variant D562A 1685A>C STAD-US 13 70370969 70370969 single base substitution G A stop_gained R321* 961C>T STAD-US 13 70370969 70370969 single base substitution G A stop_gained R514* 1540C>T STAD-US 13 70514320 70514320 single base substitution G A missense_variant A289V 866C>T STAD-US 13 70514320 70514320 single base substitution G A missense_variant A96V 287C>T STAD-US 13 70681344 70681344 single base substitution C A missense_variant C163F 488G>T STAD-US 13 70681344 70681344 single base substitution C A missense_variant C31F 92G>T STAD-US 13 70681469 70681469 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 13 70681469 70681469 single base substitution G A synonymous_variant Y121Y 363C>T STAD-US 13 70681728 70681728 deletion of <=200bp C - 5_prime_UTR_variant STAD-US 13 70681728 70681728 deletion of <=200bp C - frameshift_variant G35 UCEC-US 13 70275877 70275877 single base substitution A G missense_variant I542T 1625T>C UCEC-US 13 70275877 70275877 single base substitution A G missense_variant I735T 2204T>C UCEC-US 13 70281859 70281859 single base substitution G C synonymous_variant V502V 1506C>G UCEC-US 13 70281859 70281859 single base substitution G C synonymous_variant V695V 2085C>G UCEC-US 13 70293571 70293571 single base substitution G T missense_variant L456I 1366C>A UCEC-US 13 70293571 70293571 single base substitution G T missense_variant L649I 1945C>A UCEC-US 13 70370916 70370916 single base substitution C A missense_variant K338N 1014G>T UCEC-US 13 70370916 70370916 single base substitution C A missense_variant K531N 1593G>T UCEC-US 13 70370969 70370969 single base substitution G A stop_gained R321* 961C>T UCEC-US 13 70370969 70370969 single base substitution G A stop_gained R514* 1540C>T UCEC-US 13 70371043 70371043 single base substitution G A missense_variant A296V 887C>T UCEC-US 13 70371043 70371043 single base substitution G A missense_variant A489V 1466C>T UCEC-US 13 70371056 70371056 single base substitution G A synonymous_variant L292L 874C>T UCEC-US 13 70371056 70371056 single base substitution G A synonymous_variant L485L 1453C>T UCEC-US 13 70413259 70413259 single base substitution C T synonymous_variant K228K 684G>A UCEC-US 13 70413259 70413259 single base substitution C T synonymous_variant K421K 1263G>A UCEC-US 13 70413273 70413273 single base substitution G T missense_variant H224N 670C>A UCEC-US 13 70413273 70413273 single base substitution G T missense_variant H417N 1249C>A UCEC-US 13 70456434 70456434 single base substitution A G missense_variant L210P 629T>C UCEC-US 13 70456434 70456434 single base substitution A G missense_variant L403P 1208T>C UCEC-US 13 70456525 70456525 single base substitution C A stop_gained E180* 538G>T UCEC-US 13 70456525 70456525 single base substitution C A stop_gained E373* 1117G>T UCEC-US 13 70456597 70456597 single base substitution C A stop_gained E156* 466G>T UCEC-US 13 70456597 70456597 single base substitution C A stop_gained E349* 1045G>T UCEC-US 13 70514219 70514219 single base substitution C T missense_variant A130T 388G>A UCEC-US 13 70514219 70514219 single base substitution C T missense_variant A323T 967G>A UCEC-US 13 70514320 70514320 single base substitution G A missense_variant A289V 866C>T UCEC-US 13 70514320 70514320 single base substitution G A missense_variant A96V 287C>T UCEC-US 13 70681446 70681446 single base substitution A G 5_prime_UTR_variant UCEC-US 13 70681446 70681446 single base substitution A G missense_variant V129A 386T>C UCEC-US 13 70681490 70681490 single base substitution C A 5_prime_UTR_variant UCEC-US 13 70681490 70681490 single base substitution C A missense_variant Q114H 342G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-11-T COSM1706833 c.1895C>T p.P632L Substitution - Missense 13:69719489-69719489 - S02384 COSM5698241 c.1705A>G p.T569A Substitution - Missense 13:69740491-69740491 - HCC23 COSM1607186 c.603G>C p.K201N Substitution - Missense 13:69975697-69975697 - 92 COSM5012694 c.2167C>G p.Q723E Substitution - Missense 13:69707645-69707645 - TCGA-FW-A3R5-06 COSM3469499 c.2020G>A p.D674N Substitution - Missense 13:69707792-69707792 - PT35 COSM5913501 c.1852G>A p.E618K Substitution - Missense 13:69719532-69719532 - CSCC-31-T COSM4463860 c.1309C>T p.H437Y Substitution - Missense 13:69839081-69839081 - ESCC-F51 COSM5047971 c.869G>A p.C290Y Substitution - Missense 13:69940185-69940185 - 35M COSM5581490 c.1825G>A p.D609N Substitution - Missense 13:69719559-69719559 - TCGA-AA-A010-01 COSM282273 c.1833T>A p.S611R Substitution - Missense 13:69719551-69719551 - I2L-P14b-Tumor-Biopsy COSM1944262 c.1513G>A p.D505N Substitution - Missense 13:69796864-69796864 - tumor_4113191 COSM5947728 c.1227+8T>G p.? Unknown 13:69882275-69882275 - CSCC-15-T COSM4487858 c.323C>T p.P108L Substitution - Missense 13:70107377-70107377 - CHC429T COSM3667299 c.413C>A p.P138Q Substitution - Missense 13:70107287-70107287 - CSCC-10-T COSM4475234 c.1972C>T p.P658S Substitution - Missense 13:69719412-69719412 - 1N01-VS-1T01 COSM4972373 c.1516G>A p.D506N Substitution - Missense 13:69796861-69796861 - TCGA-AA-A010-01 COSM282275 c.1117G>T p.E373* Substitution - Nonsense 13:69882393-69882393 - CHOL12 COSM1743660 c.1661C>A p.P554H Substitution - Missense 13:69740535-69740535 - S02275 COSM5682759 c.2235C>A p.I745I Substitution - coding silent 13:69701714-69701714 - TCGA-63-5131-01 COSM696287 c.171C>G p.L57L Substitution - coding silent 13:70107529-70107529 - TP_2032 COSM5548156 c.498-10_498-9delTG p.? Unknown 13:69975811-69975812 - TCGA-60-2724-01 COSM696301 c.1056C>A p.L352L Substitution - coding silent 13:69882454-69882454 - LUAD-D02185 COSM338499 c.1802+2T>A p.? Unknown 13:69740392-69740392 - sysucc-1370T COSM5470192 c.978C>T p.C326C Substitution - coding silent 13:69940076-69940076 - LUAD_E00522 COSM352491 c.216T>A p.P72P Substitution - coding silent 13:70107484-70107484 - 6 COSM3734906 c.1045G>C p.E349Q Substitution - Missense 13:69882465-69882465 - B81-1 COSM1747494 c.1167T>A p.S389R Substitution - Missense 13:69882343-69882343 - PT09_1 COSM3814025 c.1096G>A p.D366N Substitution - Missense 13:69882414-69882414 - HCA46 COSM4629324 c.1346C>T p.P449L Substitution - Missense 13:69839044-69839044 - 0108_CRUK_PC_0108_T1_DNA COSM5422305 c.1734A>G p.Q578Q Substitution - coding silent 13:69740462-69740462 - 587352 COSM1212609 c.956C>A p.A319D Substitution - Missense 13:69940098-69940098 - 631064 COSM321272 c.586G>T p.E196* Substitution - Nonsense 13:69975714-69975714 - OSCC-GB_00920111 COSM4881789 c.1158C>A p.D386E Substitution - Missense 13:69882352-69882352 - TCGA-EK-A3GK-01 COSM4854261 c.787C>T p.L263F Substitution - Missense 13:69961338-69961338 - TCGA-34-5928-01 COSM696295 c.935C>T p.S312F Substitution - Missense 13:69940119-69940119 - 3T COSM3711107 c.1379C>T p.T460I Substitution - Missense 13:69839011-69839011 - HN_62741 COSM128340 c.2055T>C p.P685P Substitution - coding silent 13:69707757-69707757 - TCGA-56-1622-01 COSM696293 c.876T>G p.L292L Substitution - coding silent 13:69940178-69940178 - YULAN COSM1706833 c.1895C>T p.P632L Substitution - Missense 13:69719489-69719489 - TCGA-GN-A26C-01 COSM3469515 c.481G>A p.E161K Substitution - Missense 13:70107219-70107219 - TCGA-FV-A496-01 COSM4939151 c.1148T>G p.V383G Substitution - Missense 13:69882362-69882362 - TCGA-ER-A193-06 COSM3469506 c.1503G>A p.V501V Substitution - coding silent 13:69796874-69796874 - OSCC-GB_00590111 COSM4888597 c.1740G>A p.W580* Substitution - Nonsense 13:69740456-69740456 - LUAD-NYU696 COSM376021 c.1832G>T p.S611I Substitution - Missense 13:69719552-69719552 - LUAD-E00918 COSM365030 c.1794G>T p.L598F Substitution - Missense 13:69740402-69740402 - PT48 COSM3469517 c.207G>A p.W69* Substitution - Nonsense 13:70107493-70107493 - YUCHIME COSM1706835 c.1109C>T p.P370L Substitution - Missense 13:69882401-69882401 - I2L-P19Tb-Tumor-Organoid COSM1944315 c.104delG p.G35fs*31 Deletion - Frameshift 13:70107596-70107596 - TCGA-AM-5821-01 COSM3688761 c.1626C>T p.H542H Substitution - coding silent 13:69796751-69796751 - LUAD-NYU669 COSM375597 c.328C>A p.Q110K Substitution - Missense 13:70107372-70107372 - TCGA-34-5232-01 COSM696289 c.200C>T p.T67I Substitution - Missense 13:70107500-70107500 - CSCC-29-T COSM3885470 c.1720G>A p.D574N Substitution - Missense 13:69740476-69740476 - TCGA-DK-A3WW-01 COSM3793358 c.355C>T p.L119F Substitution - Missense 13:70107345-70107345 - TCGA-AR-A0TY-01 COSM5832201 c.2017_2018insG p.Y673fs*1 Insertion - Frameshift 13:69707794-69707795 - TCGA-B5-A0K6-01 COSM948329 c.1276T>C p.C426R Substitution - Missense 13:69839114-69839114 - TCGA-AG-4015-01 COSM289584 c.791G>T p.W264L Substitution - Missense 13:69961334-69961334 - ESCC-F2 COSM5047298 c.1966G>C p.D656H Substitution - Missense 13:69719418-69719418 - TCGA-56-5898-01 COSM696292 c.791G>A p.W264* Substitution - Nonsense 13:69961334-69961334 - TCGA-B7-5818-01 COSM948327 c.1540C>T p.R514* Substitution - Nonsense 13:69796837-69796837 - CSCC-31-T COSM4521496 c.1114G>A p.E372K Substitution - Missense 13:69882396-69882396 - CSCC-37-T COSM4503663 c.645C>T p.I215I Substitution - coding silent 13:69975655-69975655 - CSCC-10-T COSM4501657 c.594C>T p.T198T Substitution - coding silent 13:69975706-69975706 - ICGC_MB518 COSM215571 c.1406A>T p.N469I Substitution - Missense 13:69838984-69838984 - BN36 COSM1607183 c.1665T>G p.I555M Substitution - Missense 13:69740531-69740531 - TCGA-GU-A42R-01 COSM696287 c.171C>G p.L57L Substitution - coding silent 13:70107529-70107529 - TCGA-AN-A046-01 COSM3814026 c.662G>A p.R221Q Substitution - Missense 13:69975638-69975638 - RK175_C01 COSM3744044 c.246G>C p.P82P Substitution - coding silent 13:70107454-70107454 - PT46 COSM4524350 c.1267G>A p.D423N Substitution - Missense 13:69839123-69839123 - ESCC-F41 COSM5047758 c.2199G>C p.L733F Substitution - Missense 13:69701750-69701750 - SNU-C2B COSM1944301 c.497G>T p.R166M Substitution - Missense 13:70107203-70107203 - TCGA-CJ-6030-01 COSM469544 c.2113G>A p.V705I Substitution - Missense 13:69707699-69707699 - TCGA-BS-A0UF-01 COSM948326 c.1593G>T p.K531N Substitution - Missense 13:69796784-69796784 - TCGA-FS-A1ZA-06 COSM3469517 c.207G>A p.W69* Substitution - Nonsense 13:70107493-70107493 - CSCC-29-T COSM4509262 c.801C>T p.V267V Substitution - coding silent 13:69961324-69961324 - TCGA-D5-6926-01 COSM1367615 c.27C>T p.F9F Substitution - coding silent 13:70107673-70107673 - TCGA-D1-A17Q-01 COSM948331 c.1249C>A p.H417N Substitution - Missense 13:69839141-69839141 - ESCC_16 COSM5625752 c.367G>A p.E123K Substitution - Missense 13:70107333-70107333 - T3090 COSM4696441 c.418G>A p.E140K Substitution - Missense 13:70107282-70107282 - STC297 COSM5052222 c.2069G>A p.R690K Substitution - Missense 13:69707743-69707743 - CSCC-62-T COSM4572686 c.82T>A p.S28T Substitution - Missense 13:70107618-70107618 - TCGA-JW-A69B-01 COSM1944243 c.2050G>T p.A684S Substitution - Missense 13:69707762-69707762 - ESO-224 COSM1255952 c.1606T>C p.L536L Substitution - coding silent 13:69796771-69796771 - RK150_C01 COSM3744043 c.680G>T p.R227M Substitution - Missense 13:69975620-69975620 - TCGA-AP-A051-01 COSM948324 c.2085C>G p.V695V Substitution - coding silent 13:69707727-69707727 - I2L-P19Ta-Tumor-Organoid COSM5367839 c.104_105insG p.G36fs*12 Insertion - Frameshift 13:70107595-70107596 - TCGA-33-4583-01 COSM696297 c.999C>A p.A333A Substitution - coding silent 13:69940055-69940055 - PD18264a COSM5797970 c.2089C>T p.L697F Substitution - Missense 13:69707723-69707723 - TCGA-BL-A13J-01 COSM416324 c.1797T>C p.N599N Substitution - coding silent 13:69740399-69740399 - CRC-16T COSM5452975 c.795C>A p.D265E Substitution - Missense 13:69961330-69961330 - PT49 COSM4696441 c.418G>A p.E140K Substitution - Missense 13:70107282-70107282 - ESCC_43 COSM5629811 c.471G>T p.Q157H Substitution - Missense 13:70107229-70107229 - HT115 COSM1944282 c.1049T>G p.F350C Substitution - Missense 13:69882461-69882461 - CSCC-55-T COSM4483645 c.271C>T p.P91S Substitution - Missense 13:70107429-70107429 - pfg122T COSM4215954 c.1803G>T p.K601N Substitution - Missense 13:69719581-69719581 - TCGA-AZ-6601-01 COSM1367613 c.575T>C p.V192A Substitution - Missense 13:69975725-69975725 - HCC116T COSM1607185 c.779C>A p.P260H Substitution - Missense 13:69961346-69961346 - TCGA-B0-4842-01 COSM469545 c.390G>T p.V130V Substitution - coding silent 13:70107310-70107310 - CSCC-31-T COSM3469514 c.580C>T p.H194Y Substitution - Missense 13:69975720-69975720 - LUAD-S01346 COSM397467 c.92G>T p.G31V Substitution - Missense 13:70107608-70107608 - TCGA-A7-A5ZV-01 COSM3814023 c.2102G>C p.R701T Substitution - Missense 13:69707710-69707710 - LUAD-RT-S01866 COSM385121 c.1290T>A p.I430I Substitution - coding silent 13:69839100-69839100 - B110-Tumor COSM3931857 c.899T>G p.V300G Substitution - Missense 13:69940155-69940155 - SJHGG001_D COSM4968684 c.2079T>C p.V693V Substitution - coding silent 13:69707733-69707733 - LUAD-RT-S01777 COSM381918 c.405T>A p.F135L Substitution - Missense 13:70107295-70107295 - CSCC-44-T COSM4457385 c.1042C>T p.Q348* Substitution - Nonsense 13:69882468-69882468 - TCGA-AP-A059-01 COSM948334 c.967G>A p.A323T Substitution - Missense 13:69940087-69940087 - ESCC-F87 COSM5048955 c.877C>T p.Q293* Substitution - Nonsense 13:69940177-69940177 - TCGA-AP-A056-01 COSM948333 c.1045G>T p.E349* Substitution - Nonsense 13:69882465-69882465 - TCGA-EE-A183-06 COSM3469513 c.659A>G p.N220S Substitution - Missense 13:69975641-69975641 - TCGA-51-4079-01 COSM696309 c.1950T>G p.Y650* Substitution - Nonsense 13:69719434-69719434 - ESCC-D2 COSM5045807 c.1994G>C p.R665P Substitution - Missense 13:69719390-69719390 - 9227_T COSM5042970 c.1708G>A p.V570M Substitution - Missense 13:69740488-69740488 - HN_0-046 COSM128341 c.411A>G p.G137G Substitution - coding silent 13:70107289-70107289 - S0029 COSM5882438 c.506C>A p.S169* Substitution - Nonsense 13:69975794-69975794 - Pat_16_B COSM5842664 c.1397G>A p.G466E Substitution - Missense 13:69838993-69838993 - PR-3027 COSM220012 c.1563C>T p.N521N Substitution - coding silent 13:69796814-69796814 - OSCC-GB_00430111 COSM3711108 c.1271T>G p.L424R Substitution - Missense 13:69839119-69839119 - HCT15 COSM1677704 c.638A>G p.D213G Substitution - Missense 13:69975662-69975662 - TCGA-33-4583-01 COSM696303 c.1239C>A p.D413E Substitution - Missense 13:69839151-69839151 - TCGA-EE-A3JB-06 COSM1944241 c.2091C>T p.L697L Substitution - coding silent 13:69707721-69707721 - TCGA-EE-A29D-06 COSM3469509 c.1121C>T p.T374I Substitution - Missense 13:69882389-69882389 - PT38 COSM5923040 c.1015-7C>T p.? Unknown 13:69882502-69882502 - TCGA-12-3649-01 COSM3399436 c.24C>A p.D8E Substitution - Missense 13:70107676-70107676 - 44_T COSM3955708 c.1242A>G p.L414L Substitution - coding silent 13:69839148-69839148 - TCGA-27-2527-01 COSM3399435 c.743C>T p.A248V Substitution - Missense 13:69961382-69961382 - CSCC-49-T COSM4452428 c.1856A>C p.Y619S Substitution - Missense 13:69719528-69719528 - TCGA-EB-A3XB-01 COSM3469511 c.838G>A p.D280N Substitution - Missense 13:69940216-69940216 - PT50 COSM5937601 c.1855T>C p.Y619H Substitution - Missense 13:69719529-69719529 - TCGA-04-1342-01 COSM118191 c.171C>T p.L57L Substitution - coding silent 13:70107529-70107529 - TCGA-EE-A3AA-06 COSM3469516 c.450G>A p.V150V Substitution - coding silent 13:70107250-70107250 - TCGA-AA-A01T-01 COSM300233 c.801C>G p.V267V Substitution - coding silent 13:69961324-69961324 - HCT8 COSM4633850 c.917T>C p.M306T Substitution - Missense 13:69940137-69940137 - PT48 COSM5920599 c.1015G>A p.E339K Substitution - Missense 13:69882495-69882495 - COLO678 COSM1944272 c.1312C>T p.L438L Substitution - coding silent 13:69839078-69839078 - 19M COSM948327 c.1540C>T p.R514* Substitution - Nonsense 13:69796837-69796837 - J54_T COSM3955713 c.486A>T p.G162G Substitution - coding silent 13:70107214-70107214 - TCGA-32-2615-01 COSM3399434 c.1737A>G p.Q579Q Substitution - coding silent 13:69740459-69740459 - TCGA-51-4080-01 COSM696294 c.932C>A p.P311Q Substitution - Missense 13:69940122-69940122 - TCGA-BS-A0UJ-01 COSM948332 c.1208T>C p.L403P Substitution - Missense 13:69882302-69882302 - TCGA-EE-A29E-06 COSM3469498 c.2053C>T p.P685S Substitution - Missense 13:69707759-69707759 - T3048 COSM4696438 c.700T>A p.S234T Substitution - Missense 13:69961425-69961425 - AOCS-063-1-3 COSM3943256 c.1025T>C p.M342T Substitution - Missense 13:69882485-69882485 - I2L-P19Tb-Tumor-Biopsy COSM1944315 c.104delG p.G35fs*31 Deletion - Frameshift 13:70107596-70107596 - TCGA-UB-A7MB-01 COSM4931275 c.786T>C p.A262A Substitution - coding silent 13:69961339-69961339 - CSCC-60-T COSM4490254 c.360C>T p.F120F Substitution - coding silent 13:70107340-70107340 - ESCC-F53 COSM5048007 c.1820G>A p.G607D Substitution - Missense 13:69719564-69719564 - TCGA-EE-A29G-06 COSM3469496 c.2206G>T p.G736W Substitution - Missense 13:69701743-69701743 - TCGA-AX-A05Z-01 COSM948330 c.1263G>A p.K421K Substitution - coding silent 13:69839127-69839127 - LUAD-YINHD COSM348858 c.2180G>T p.W727L Substitution - Missense 13:69707632-69707632 - S00946 COSM312369 c.1291C>G p.L431V Substitution - Missense 13:69839099-69839099 - S02139 COSM1944314 c.123C>T p.D41D Substitution - coding silent 13:70107577-70107577 - PDA_080 COSM5002411 c.713C>T p.A238V Substitution - Missense 13:69961412-69961412 - RW2982 COSM4649521 c.1526T>G p.F509C Substitution - Missense 13:69796851-69796851 - STC252 COSM5052223 c.237G>A p.S79S Substitution - coding silent 13:70107463-70107463 - S02296 COSM5689387 c.307C>A p.L103M Substitution - Missense 13:70107393-70107393 - TCGA-D3-A2JD-06 COSM282274 c.1453C>T p.L485L Substitution - coding silent 13:69796924-69796924 - TCGA-D9-A1JW-06 COSM3469500 c.1913G>A p.G638E Substitution - Missense 13:69719471-69719471 - TCGA-AG-3891-01 COSM5068856 c.1264A>G p.N422D Substitution - Missense 13:69839126-69839126 - S02219 COSM5701939 c.1146_1147GG>TT p.W382_V383>CF Complex - compound substitution 13:69882363-69882364 - S02139 COSM5674147 c.206G>T p.W69L Substitution - Missense 13:70107494-70107494 - TCGA-22-0944-01 COSM696288 c.175A>C p.S59R Substitution - Missense 13:70107525-70107525 - TCGA-BT-A3PK-01 COSM3793357 c.705C>A p.D235E Substitution - Missense 13:69961420-69961420 - TCGA-AA-A010-01 COSM299287 c.28G>A p.D10N Substitution - Missense 13:70107672-70107672 - 381_T COSM3955710 c.1146G>T p.W382C Substitution - Missense 13:69882364-69882364 - SJBALL021507_D1 COSM4994129 c.1691G>T p.W564L Substitution - Missense 13:69740505-69740505 - S02273 COSM5681615 c.2148T>G p.T716T Substitution - coding silent 13:69707664-69707664 - T3503 COSM4696440 c.511G>A p.G171S Substitution - Missense 13:69975789-69975789 - LUAD-S01357 COSM386593 c.1066G>A p.E356K Substitution - Missense 13:69882444-69882444 - TCGA-FW-A3R5-06 COSM3885472 c.847G>A p.E283K Substitution - Missense 13:69940207-69940207 - 2492721 COSM5478579 c.653T>C p.V218A Substitution - Missense 13:69975647-69975647 - LN18 COSM1944233 c.2178G>A p.E726E Substitution - coding silent 13:69707634-69707634 - TCGA-46-3765-01 COSM696290 c.485G>C p.G162A Substitution - Missense 13:70107215-70107215 - TCGA-DA-A1I1-06 COSM3469503 c.1798G>A p.G600S Substitution - Missense 13:69740398-69740398 - TCGA-BS-A0UF-01 COSM948325 c.1945C>A p.L649I Substitution - Missense 13:69719439-69719439 - PCSI_0537_Pa_P_526 COSM5031219 c.327G>T p.G109G Substitution - coding silent 13:70107373-70107373 - TCGA-A8-A0A6-01 COSM3814024 c.1717T>G p.W573G Substitution - Missense 13:69740479-69740479 - HCC116 COSM1607185 c.779C>A p.P260H Substitution - Missense 13:69961346-69961346 - TCGA-EE-A2MD-06 COSM3469501 c.1882A>G p.N628D Substitution - Missense 13:69719502-69719502 - PT37 COSM5920599 c.1015G>A p.E339K Substitution - Missense 13:69882495-69882495 - T3202 COSM1944315 c.104delG p.G35fs*31 Deletion - Frameshift 13:70107596-70107596 - PT15_1 COSM5897865 c.2072A>T p.D691V Substitution - Missense 13:69707740-69707740 - TCGA-DK-A2I2-01 COSM1300277 c.433C>T p.L145L Substitution - coding silent 13:70107267-70107267 - ESO-859 COSM1239271 c.17G>A p.R6Q Substitution - Missense 13:70107683-70107683 - I2L-P19Ta-Tumor-Organoid COSM5362119 c.430G>A p.V144I Substitution - Missense 13:70107270-70107270 - TCGA-EE-A2MC-06 COSM3469502 c.1811C>T p.S604L Substitution - Missense 13:69719573-69719573 - LUAD-CHTN-MAD06-00668 COSM358794 c.1117G>A p.E373K Substitution - Missense 13:69882393-69882393 - TCGA-33-4583-01 COSM696305 c.1240C>A p.L414I Substitution - Missense 13:69839150-69839150 - PT49 COSM5935997 c.51C>T p.L17L Substitution - coding silent 13:70107649-70107649 - CSCC-62-T COSM4535082 c.2152G>A p.E718K Substitution - Missense 13:69707660-69707660 - 408 COSM4430389 c.2166A>C p.P722P Substitution - coding silent 13:69707646-69707646 - Pat_16_A COSM5842664 c.1397G>A p.G466E Substitution - Missense 13:69838993-69838993 - TCGA-AA-A010-01 COSM282274 c.1453C>T p.L485L Substitution - coding silent 13:69796924-69796924 - I2L-P19Ta-Tumor-Biopsy COSM5367839 c.104_105insG p.G36fs*12 Insertion - Frameshift 13:70107595-70107596 - TCGA-EI-6881-01 COSM3417691 c.90C>T p.G30G Substitution - coding silent 13:70107610-70107610 - TCGA-D9-A6E9-06 COSM4399662 c.2241A>G p.Q747Q Substitution - coding silent 13:69701708-69701708 - TCGA-21-5787-01 COSM696291 c.681-2A>G p.? Unknown 13:69961446-69961446 - TCGA-AP-A059-01 COSM948328 c.1466C>T p.A489V Substitution - Missense 13:69796911-69796911 - M013 COSM1740004 c.593C>A p.T198N Substitution - Missense 13:69975707-69975707 - HX25T COSM1607186 c.603G>C p.K201N Substitution - Missense 13:69975697-69975697 - ESCC_BICR_005T COSM5439084 c.1911A>T p.R637S Substitution - Missense 13:69719473-69719473 - 1604875 COSM141415 c.754G>A p.E252K Substitution - Missense 13:69961371-69961371 - Gp2D COSM1944235 c.2134A>G p.T712A Substitution - Missense 13:69707678-69707678 - TCGA-BH-A18V-01 COSM432534 c.1037G>A p.R346K Substitution - Missense 13:69882473-69882473 - BCM739T COSM4955631 c.1190T>C p.L397P Substitution - Missense 13:69882320-69882320 - 12-P616 COSM4575988 c.580C>A p.H194N Substitution - Missense 13:69975720-69975720 - TCGA-66-2795-01 COSM696286 c.163C>G p.R55G Substitution - Missense 13:70107537-70107537 - PT48 COSM5933211 c.2056T>A p.L686M Substitution - Missense 13:69707756-69707756 - I2L-P19Ta-Tumor-Biopsy COSM5362119 c.430G>A p.V144I Substitution - Missense 13:70107270-70107270 - ESCC-F86 COSM5048903 c.582T>A p.H194Q Substitution - Missense 13:69975718-69975718 - T2197 COSM1944315 c.104delG p.G35fs*31 Deletion - Frameshift 13:70107596-70107596 - ESCC_92 COSM5637044 c.1822C>T p.R608C Substitution - Missense 13:69719562-69719562 - CSCC-56-T COSM4532817 c.1921G>A p.G641R Substitution - Missense 13:69719463-69719463 - cSCCP4 COSM138911 c.152C>T p.P51L Substitution - Missense 13:70107548-70107548 - TCGA-C5-A1MI-01 COSM4837408 c.1459A>T p.I487F Substitution - Missense 13:69796918-69796918 - CSCC-27-T COSM4563440 c.973G>A p.G325R Substitution - Missense 13:69940081-69940081 - TCGA-AX-A0J0-01 COSM282275 c.1117G>T p.E373* Substitution - Nonsense 13:69882393-69882393 - TCGA-E2-A15I-01 COSM432533 c.2016-1G>A p.? Unknown 13:69707797-69707797 - pfg008T COSM1944315 c.104delG p.G35fs*31 Deletion - Frameshift 13:70107596-70107596 - TCGA-BF-A1Q0-01 COSM3885470 c.1720G>A p.D574N Substitution - Missense 13:69740476-69740476 - ESCC_BICR_010T COSM5435903 c.1765G>T p.A589S Substitution - Missense 13:69740431-69740431 - TCGA-NI-A4U2-01 COSM4909685 c.1930A>G p.T644A Substitution - Missense 13:69719454-69719454 - TCGA-CG-4437-01 COSM4048289 c.363C>T p.Y121Y Substitution - coding silent 13:70107337-70107337 - 2492723 COSM5478579 c.653T>C p.V218A Substitution - Missense 13:69975647-69975647 - TCGA-A8-A084-01 COSM432536 c.178C>G p.Q60E Substitution - Missense 13:70107522-70107522 - TCGA-CG-4438-01 COSM4048288 c.488G>T p.C163F Substitution - Missense 13:70107212-70107212 - SC_9037 COSM5548156 c.498-10_498-9delTG p.? Unknown 13:69975811-69975812 - TCGA-85-6560-01 COSM696310 c.1958G>T p.G653V Substitution - Missense 13:69719426-69719426 - CSCC-15-T COSM3469517 c.207G>A p.W69* Substitution - Nonsense 13:70107493-70107493 - PD3190a COSM1659091 c.714G>A p.A238A Substitution - coding silent 13:69961411-69961411 - TCGA-D3-A2JO-06 COSM3469507 c.1438G>A p.D480N Substitution - Missense 13:69796939-69796939 - TCGA-B5-A11E-01 COSM948327 c.1540C>T p.R514* Substitution - Nonsense 13:69796837-69796837 - S00832 COSM5660799 c.417C>A p.H139Q Substitution - Missense 13:70107283-70107283 - TCGA-A7-A0D9-01 COSM432535 c.961G>A p.A321T Substitution - Missense 13:69940093-69940093 - ESCC_126 COSM5641250 c.1863T>A p.D621E Substitution - Missense 13:69719521-69719521 - TCGA-G3-A5SJ-01 COSM4914844 c.628C>T p.Q210* Substitution - Nonsense 13:69975672-69975672 - PT48 COSM5933212 c.1639+3A>C p.? Unknown 13:69796735-69796735 - CSCC-35-T COSM4509839 c.819C>T p.G273G Substitution - coding silent 13:69940235-69940235 - TCGA-33-4586-01 COSM696285 c.98C>A p.A33E Substitution - Missense 13:70107602-70107602 - RMS112_ COSM4987678 c.1581T>G p.N527K Substitution - Missense 13:69796796-69796796 - CSCC-40-T COSM4524350 c.1267G>A p.D423N Substitution - Missense 13:69839123-69839123 - AOCS-085-1-2 COSM3943257 c.558A>G p.E186E Substitution - coding silent 13:69975742-69975742 - TCGA-EE-A2MM-06 COSM3469518 c.181G>A p.E61K Substitution - Missense 13:70107519-70107519 - TCGA-AC-A23H-01 COSM3814025 c.1096G>A p.D366N Substitution - Missense 13:69882414-69882414 - CSCC-30-T COSM4484773 c.284C>T p.T95I Substitution - Missense 13:70107416-70107416 - 37M COSM4696441 c.418G>A p.E140K Substitution - Missense 13:70107282-70107282 - 12924 COSM5613692 c.1660C>A p.P554T Substitution - Missense 13:69740536-69740536 - ATL047 COSM4535082 c.2152G>A p.E718K Substitution - Missense 13:69707660-69707660 - YUFERY COSM5376861 c.1851G>A p.M617I Substitution - Missense 13:69719533-69719533 - TCGA-B5-A11E-01 COSM948337 c.386T>C p.V129A Substitution - Missense 13:70107314-70107314 - TCGA-EE-A29E-06 COSM3469510 c.912C>T p.F304F Substitution - coding silent 13:69940142-69940142 - TCGA-F4-6570-01 COSM3686083 c.1803-3delT p.? Unknown 13:69719584-69719584 - TCGA-F5-6814-01 COSM3417690 c.210G>T p.K70N Substitution - Missense 13:70107490-70107490 - TCGA-GN-A266-06 COSM141415 c.754G>A p.E252K Substitution - Missense 13:69961371-69961371 - WA57 COSM240424 c.337C>G p.Q113E Substitution - Missense 13:70107363-70107363 - TCGA-66-2766-01 COSM696311 c.2167C>T p.Q723* Substitution - Nonsense 13:69707645-69707645 - TCGA-HU-A4GT-01 COSM948335 c.866C>T p.A289V Substitution - Missense 13:69940188-69940188 - S02350 COSM5694635 c.1781G>T p.G594V Substitution - Missense 13:69740415-69740415 - YULAN COSM1706831 c.2180_2181GG>AA p.W727* Substitution - Nonsense 13:69707631-69707632 - TCGA-EE-A29A-06 COSM3469499 c.2020G>A p.D674N Substitution - Missense 13:69707792-69707792 - T2932 COSM1944315 c.104delG p.G35fs*31 Deletion - Frameshift 13:70107596-70107596 - I2L-P10-Tumor-Organoid COSM5362060 c.1197C>A p.A399A Substitution - coding silent 13:69882313-69882313 - LUAD-E00934 COSM393237 c.1769G>T p.R590L Substitution - Missense 13:69740427-69740427 - TCGA-DZ-6135-01 COSM3987451 c.673G>C p.A225P Substitution - Missense 13:69975627-69975627 - TCGA-AZ-4315-01 COSM1367610 c.1168A>C p.R390R Substitution - coding silent 13:69882342-69882342 - TCGA-BS-A0U8-01 COSM948336 c.702C>T p.S234S Substitution - coding silent 13:69961423-69961423 - B81-1-Tumor COSM1747494 c.1167T>A p.S389R Substitution - Missense 13:69882343-69882343 - LUAD-RT-S01774 COSM381380 c.1657G>T p.G553C Substitution - Missense 13:69740539-69740539 - DLD1 COSM4622852 c.1393G>T p.G465* Substitution - Nonsense 13:69838997-69838997 - CSCC-27-T COSM3469499 c.2020G>A p.D674N Substitution - Missense 13:69707792-69707792 - TCGA-18-3415-01 COSM696302 c.1113T>A p.D371E Substitution - Missense 13:69882397-69882397 - AOCS-161-1-9 COSM3943255 c.1088C>A p.A363D Substitution - Missense 13:69882422-69882422 - TCGA-F5-6814-01 COSM3417688 c.2169A>C p.Q723H Substitution - Missense 13:69707643-69707643 - ESCC-F99 COSM5049258 c.836A>T p.E279V Substitution - Missense 13:69940218-69940218 - TCGA-EE-A2MT-06 COSM3469497 c.2102G>A p.R701K Substitution - Missense 13:69707710-69707710 - STC291 COSM4048289 c.363C>T p.Y121Y Substitution - coding silent 13:70107337-70107337 - 388 COSM4427394 c.1676G>C p.G559A Substitution - Missense 13:69740520-69740520 - BRC47 COSM5027783 c.2242C>T p.P748S Substitution - Missense 13:69701707-69701707 - LUAD-S01404 COSM398703 c.660C>A p.N220K Substitution - Missense 13:69975640-69975640 - YUKLAB COSM1706834 c.1473G>A p.M491I Substitution - Missense 13:69796904-69796904 - J54_T COSM3955707 c.1375G>T p.G459* Substitution - Nonsense 13:69839015-69839015 - TCGA-60-2715-01 COSM696296 c.990G>T p.M330I Substitution - Missense 13:69940064-69940064 - TCGA-E9-A22E-01 COSM1477297 c.708T>C p.Y236Y Substitution - coding silent 13:69961417-69961417 - 43T COSM3711108 c.1271T>G p.L424R Substitution - Missense 13:69839119-69839119 - TCGA-RP-A695-06 COSM4524350 c.1267G>A p.D423N Substitution - Missense 13:69839123-69839123 - 2292384 COSM4610353 c.1939G>A p.G647S Substitution - Missense 13:69719445-69719445 - HCC042T COSM5823769 c.1938C>T p.D646D Substitution - coding silent 13:69719446-69719446 - Au4 COSM4524350 c.1267G>A p.D423N Substitution - Missense 13:69839123-69839123 - 445 COSM4434864 c.1187T>G p.M396R Substitution - Missense 13:69882323-69882323 - PT52 COSM3469518 c.181G>A p.E61K Substitution - Missense 13:70107519-70107519 - TCGA-AA-3492-01 COSM1367611 c.1157A>G p.D386G Substitution - Missense 13:69882353-69882353 - 226 COSM4425818 c.1271T>A p.L424Q Substitution - Missense 13:69839119-69839119 - TCGA-FW-A3R5-06 COSM3469512 c.703G>A p.D235N Substitution - Missense 13:69961422-69961422 - TCGA-BR-8485-01 COSM4048287 c.1685A>C p.D562A Substitution - Missense 13:69740511-69740511 - ESO-683 COSM1255953 c.559G>A p.E187K Substitution - Missense 13:69975741-69975741 - ESO-859 COSM1239272 c.492A>T p.G164G Substitution - coding silent 13:70107208-70107208 - CSCC-31-T COSM4496187 c.469C>T p.Q157* Substitution - Nonsense 13:70107231-70107231 - 2492720 COSM5478579 c.653T>C p.V218A Substitution - Missense 13:69975647-69975647 - YULETA COSM3469503 c.1798G>A p.G600S Substitution - Missense 13:69740398-69740398 - HCT-15 COSM1677704 c.638A>G p.D213G Substitution - Missense 13:69975662-69975662 - 4132_T COSM3955711 c.1015-5T>G p.? Unknown 13:69882500-69882500 - TCGA-CA-6718-01 COSM1367608 c.1434A>G p.K478K Substitution - coding silent 13:69796943-69796943 - OSCC-GB_00030111 COSM3711107 c.1379C>T p.T460I Substitution - Missense 13:69839011-69839011 - T207 COSM4696442 c.264C>A p.S88S Substitution - coding silent 13:70107436-70107436 - TCGA-EI-6882-01 COSM3417689 c.2014A>C p.R672R Substitution - coding silent 13:69719370-69719370 - CSCC-5-T COSM4526553 c.1402G>A p.D468N Substitution - Missense 13:69838988-69838988 - HCC98T COSM1607184 c.947G>C p.G316A Substitution - Missense 13:69940107-69940107 - TCGA-63-6202-01 COSM696308 c.1776A>T p.T592T Substitution - coding silent 13:69740420-69740420 - PT09_2 COSM3814025 c.1096G>A p.D366N Substitution - Missense 13:69882414-69882414 - YUKAT COSM3469499 c.2020G>A p.D674N Substitution - Missense 13:69707792-69707792 - sysucc-311T COSM5478579 c.653T>C p.V218A Substitution - Missense 13:69975647-69975647 - LUAD-D01751 COSM338178 c.173A>G p.K58R Substitution - Missense 13:70107527-70107527 - cSCCP7 COSM140004 c.895G>A p.E299K Substitution - Missense 13:69940159-69940159 - TCGA-22-1012-01 COSM696307 c.1699C>A p.L567M Substitution - Missense 13:69740497-69740497 - OSCC-GB_01200111 COSM5548156 c.498-10_498-9delTG p.? Unknown 13:69975811-69975812 - J54_T COSM3955712 c.837G>T p.E279D Substitution - Missense 13:69940217-69940217 - 949_T COSM3955709 c.1228-2A>G p.? Unknown 13:69839164-69839164 - 255 COSM3732231 c.1734A>C p.Q578H Substitution - Missense 13:69740462-69740462 - TCGA-EE-A3AA-06 COSM3469508 c.1135T>A p.L379M Substitution - Missense 13:69882375-69882375 - 2_RESISTANT COSM1722159 c.915C>T p.L305L Substitution - coding silent 13:69940139-69940139 - CHC429T COSM3667299 c.413C>A p.P138Q Substitution - Missense 13:70107287-70107287 - PT36 COSM4524350 c.1267G>A p.D423N Substitution - Missense 13:69839123-69839123 - CSCC-15-T COSM4530647 c.1715G>A p.R572K Substitution - Missense 13:69740481-69740481 - LUAD-D01603 COSM337375 c.1380T>A p.T460T Substitution - coding silent 13:69839010-69839010 - CSCC-37-T COSM4526968 c.1431G>A p.E477E Substitution - coding silent 13:69796946-69796946 - ESCC_93 COSM5637203 c.91G>A p.G31S Substitution - Missense 13:70107609-70107609 - OSCC-GB_00770111 COSM4884016 c.1656A>T p.E552D Substitution - Missense 13:69740540-69740540 - J54_T COSM3955706 c.1851G>T p.M617I Substitution - Missense 13:69719533-69719533 - 2492722 COSM5478579 c.653T>C p.V218A Substitution - Missense 13:69975647-69975647 - ESCC_65 COSM5633559 c.1367C>G p.S456C Substitution - Missense 13:69839023-69839023 - TCGA-ER-A195-06 COSM3885470 c.1720G>A p.D574N Substitution - Missense 13:69740476-69740476 - C125 COSM4616734 c.782A>G p.N261S Substitution - Missense 13:69961343-69961343 - SNUH_G73_S1 COSM4415812 c.234A>G p.S78S Substitution - coding silent 13:70107466-70107466 - TCGA-D1-A16Y-01 COSM948327 c.1540C>T p.R514* Substitution - Nonsense 13:69796837-69796837 - HN_62741 COSM123999 c.2057T>G p.L686W Substitution - Missense 13:69707755-69707755 - TCGA-BR-6563-01 COSM4048286 c.1693A>G p.S565G Substitution - Missense 13:69740503-69740503 - TCGA-BS-A0UV-01 COSM282274 c.1453C>T p.L485L Substitution - coding silent 13:69796924-69796924 - TCGA-EB-A4P0-01 COSM3469496 c.2206G>T p.G736W Substitution - Missense 13:69701743-69701743 - T2932 COSM4696439 c.581A>G p.H194R Substitution - Missense 13:69975719-69975719 - ATL002 COSM5704747 c.1541G>T p.R514L Substitution - Missense 13:69796836-69796836 - TCGA-D1-A15X-01 COSM948323 c.2204T>C p.I735T Substitution - Missense 13:69701745-69701745 - CLL104 COSM1289912 c.1896C>A p.P632P Substitution - coding silent 13:69719488-69719488 - TCGA-BI-A0VS-01 COSM551788 c.1189C>T p.L397F Substitution - Missense 13:69882321-69882321 - HCC23T COSM1607186 c.603G>C p.K201N Substitution - Missense 13:69975697-69975697 - CSCC-41-T COSM4534670 c.210G>A p.K70K Substitution - coding silent 13:70107490-70107490 - LUAD-B00523 COSM331763 c.2122T>A p.Y708N Substitution - Missense 13:69707690-69707690 - LUAD-NYU669 COSM375598 c.57G>T p.W19C Substitution - Missense 13:70107643-70107643 - TCGA-FW-A3R5-06 COSM3885473 c.322C>T p.P108S Substitution - Missense 13:70107378-70107378 - CSCC-44-T COSM4448531 c.1015-1G>A p.? Unknown 13:69882496-69882496 - Gp5D COSM1944235 c.2134A>G p.T712A Substitution - Missense 13:69707678-69707678 - 2334202 COSM321273 c.1570G>T p.E524* Substitution - Nonsense 13:69796807-69796807 - KYSE30 COSM5049609 c.1676G>A p.G559E Substitution - Missense 13:69740520-69740520 - YUFIT COSM5376860 c.1926G>A p.V642V Substitution - coding silent 13:69719458-69719458 - TCGA-D7-5577-01 COSM4048285 c.2222G>A p.C741Y Substitution - Missense 13:69701727-69701727 - TCGA-AZ-4315-01 COSM1367609 c.1374C>T p.V458V Substitution - coding silent 13:69839016-69839016 - P146 COSM1737174 c.1487G>T p.R496M Substitution - Missense 13:69796890-69796890 - PT36 COSM3885470 c.1720G>A p.D574N Substitution - Missense 13:69740476-69740476 - BCM739T COSM4955631 c.1190T>C p.L397P Substitution - Missense 13:69882320-69882320 - TCGA-EE-A2GC-06 COSM3469512 c.703G>A p.D235N Substitution - Missense 13:69961422-69961422 - L04 COSM5368645 c.1249C>T p.H417Y Substitution - Missense 13:69839141-69839141 - BN36T COSM1607183 c.1665T>G p.I555M Substitution - Missense 13:69740531-69740531 - TCGA-C5-A1M9-01 COSM4830957 c.245C>T p.P82L Substitution - Missense 13:70107455-70107455 - LUAD-F00368 COSM340990 c.2085C>A p.V695V Substitution - coding silent 13:69707727-69707727 - TCGA-D3-A1Q6-06 COSM3469514 c.580C>T p.H194Y Substitution - Missense 13:69975720-69975720 - TCGA-EE-A3J3-06 COSM3885471 c.1266T>C p.N422N Substitution - coding silent 13:69839124-69839124 - TCGA-G5-6235-01 COSM5080844 c.2190G>T p.M730I Substitution - Missense 13:69701759-69701759 - ESCC_BICR_033T COSM5439693 c.2074G>A p.A692T Substitution - Missense 13:69707738-69707738 - TCGA-EE-A29E-06 COSM3469505 c.1701G>A p.L567L Substitution - coding silent 13:69740495-69740495 - YURUS COSM1706832 c.1984C>T p.H662Y Substitution - Missense 13:69719400-69719400 - HCC059T COSM5809773 c.1975G>T p.A659S Substitution - Missense 13:69719409-69719409 - TCGA-GF-A6C9-06 COSM4900660 c.874C>T p.L292F Substitution - Missense 13:69940180-69940180 - LUAD-RT-S01831 COSM384278 c.156C>A p.S52R Substitution - Missense 13:70107544-70107544 - ESCC_118 COSM5640177 c.1970C>A p.A657D Substitution - Missense 13:69719414-69719414 - HCC2998 COSM1944244 c.2028A>C p.K676N Substitution - Missense 13:69707784-69707784 - TCGA-DK-A3IL-01 COSM1300276 c.1752C>T p.A584A Substitution - coding silent 13:69740444-69740444 - 218 COSM4424841 c.24C>T p.D8D Substitution - coding silent 13:70107676-70107676 - BD58T COSM5511321 c.661C>T p.R221* Substitution - Nonsense 13:69975639-69975639 - ESCC_18 COSM5047758 c.2199G>C p.L733F Substitution - Missense 13:69701750-69701750 - SA065 COSM214152 c.1119A>C p.E373D Substitution - Missense 13:69882391-69882391 - TCGA-EK-A3GK-01 COSM1367615 c.27C>T p.F9F Substitution - coding silent 13:70107673-70107673 - TCGA-ER-A19S-06 COSM3469504 c.1769G>A p.R590Q Substitution - Missense 13:69740427-69740427 - CSCC-62-T COSM4526968 c.1431G>A p.E477E Substitution - coding silent 13:69796946-69796946 - ATL012 COSM5704748 c.205T>A p.W69R Substitution - Missense 13:70107495-70107495 - PD4958a COSM5796445 c.1256T>C p.L419S Substitution - Missense 13:69839134-69839134 - S01861 COSM5671072 c.229T>A p.S77T Substitution - Missense 13:70107471-70107471 - sysucc-311T COSM5478578 c.2130A>G p.G710G Substitution - coding silent 13:69707682-69707682 - PD6711a2 COSM5772220 c.1375G>A p.G459R Substitution - Missense 13:69839015-69839015 - RK111_C01 COSM3399436 c.24C>A p.D8E Substitution - Missense 13:70107676-70107676 - C709 COSM4443852 c.399G>T p.M133I Substitution - Missense 13:70107301-70107301 - TCGA-AA-3492-01 COSM1367612 c.689T>C p.L230P Substitution - Missense 13:69961436-69961436 - T36 COSM4696437 c.1735C>T p.Q579* Substitution - Nonsense 13:69740461-69740461 - PT35 COSM948327 c.1540C>T p.R514* Substitution - Nonsense 13:69796837-69796837 - TCGA-AX-A0J1-01 COSM948335 c.866C>T p.A289V Substitution - Missense 13:69940188-69940188 - TCGA-D1-A0ZR-01 COSM948338 c.342G>T p.Q114H Substitution - Missense 13:70107358-70107358 - LUAD-NYU184 COSM370749 c.1947T>A p.L649L Substitution - coding silent 13:69719437-69719437 - 2_PRE-TREATMENT COSM1722159 c.915C>T p.L305L Substitution - coding silent 13:69940139-69940139 - TCGA-37-5819-01 COSM696306 c.1556C>A p.T519K Substitution - Missense 13:69796821-69796821 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.508194;Hs.508201 13q21 605332

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.498-25461T>G 13 70575395 CLL A C IntronicSNV . c.818-9421T>G 13 70523789 CLL A C Missense p.L206W c.617T>G 13 70549815 STAD A C Missense p.L686W c.2057T>G 13 70281887 HNSC A C Nonsense p.Y650* c.1950T>G 13 70293566 LUSC A C Synonymous p.L292L c.876T>G 13 70514310 LUSC A C Synonymous p.P176P c.528T>G 13 70549904 HNSC A C Synonymous p.T444T c.1332T>G 13 70413190 STAD A G IntronicSNV . c.1639+14822T>C 13 70356048 CLL A G IntronicSNV . c.2015+5362T>C 13 70288139 CLL A G Missense p.C290R c.868T>C 13 70514318 CM A G Missense p.V369A c.1106T>C 13 70456536 CM A G Synonymous p.L536L c.1606T>C 13 70370903 ESCA A G Synonymous p.N422N c.1266T>C 13 70413256 CM A G Synonymous p.N599N c.1797T>C 13 70314531 BLCA A G Synonymous p.P685P c.2055T>C 13 70281889 HNSC A G Synonymous p.S155S c.465T>C 13 70681367 LUAD A G Synonymous p.S183S c.549T>C 13 70549883 HNSC A G Synonymous p.Y236Y c.708T>C 13 70535549 BRCA A T IntronicSNV . c.1227+19581T>A 13 70436834 CLL A T IntronicSNV . c.1228-4915T>A 13 70418209 CLL A T IntronicSNV . c.498-14668T>A 13 70564602 CLL A T IntronicSNV . c.498-64129T>A 13 70614063 CLL A T Missense p.D371E c.1113T>A 13 70456529 LUSC A T Missense p.L379M c.1135T>A 13 70456507 CM A T Missense p.Y720N c.2158T>A 13 70281786 LUAD C A IntronicSNV . c.1802+6315G>T 13 70308211 CLL C A IntronicSNV . c.498-36842G>T 13 70586776 CLL C A IntronicSNV . c.817+6671G>T 13 70528769 PIA C A Missense p.A270S c.808G>T 13 70535449 LUAD C A Missense p.C163F c.488G>T 13 70681344 STAD C A Missense p.G653V c.1958G>T 13 70293558 LUSC C A Missense p.L275F c.825G>T 13 70514361 LUAD C A Missense p.L379F c.1137G>T 13 70456505 HNSC C A Missense p.M330I c.990G>T 13 70514196 LUSC C A Missense p.M342I c.1026G>T 13 70456616 LUAD C A Missense p.M688I c.2064G>T 13 70281880 HNSC C A Missense p.Q114H c.342G>T 13 70681490 UCEC C A Missense p.R690I c.2069G>T 13 70281875 LUAD C A Missense p.S611I c.1832G>T 13 70293684 LUAD C A Missense p.W264L c.791G>T 13 70535466 COREAD C A Nonsense p.E128* c.382G>T 13 70681450 LUAD C A Nonsense p.E151* c.451G>T 13 70681381 LUAD C A Nonsense p.E196* c.586G>T 13 70549846 SCLC C A Nonsense p.E279* c.835G>T 13 70514351 LUAD C A Nonsense p.E373* c.1117G>T 13 70456525 HNSC C A Nonsense p.E524* c.1570G>T 13 70370939 SCLC C A Synonymous p.L103L c.309G>T 13 70681523 LUAD C A Synonymous p.R665R c.1995G>T 13 70293521 LUAD C A Synonymous p.V130V c.390G>T 13 70681442 RCCC CC TT Missense p.V695I c.2082_2083delinsAA 13 70281861 CM C - Frameshift p.G639Vfs*14 c.1916delG 13 70293600 STAD C G Missense p.G162A c.485G>C 13 70681347 LUSC C G Missense p.W627S c.1880G>C 13 70293636 LUAD C T 5-UTRSNV . c.1-526G>A 13 70682357 DLBCL C T IntronicSNV . c.498-4821G>A 13 70554755 PIA C T Missense p.A321T c.961G>A 13 70514225 BRCA C T Missense p.A433T c.1297G>A 13 70413225 CM C T Missense p.C741Y c.2222G>A 13 70275859 STAD C T Missense p.D235N c.703G>A 13 70535554 CM C T Missense p.D265N c.793G>A 13 70535464 MM C T Missense p.D413N c.1237G>A 13 70413285 HNSC C T Missense p.D480N c.1438G>A 13 70371071 CM C T Missense p.D574N c.1720G>A 13 70314608 CM C T Missense p.D674N c.2020G>A 13 70281924 CM C T Missense p.E161K c.481G>A 13 70681351 CM C T Missense p.E187K c.559G>A 13 70549873 ESCA C T Missense p.E61K c.181G>A 13 70681651 CM C T Missense p.G638E c.1913G>A 13 70293603 CM C T Missense p.R346K c.1037G>A 13 70456605 BRCA C T Missense p.R590Q c.1769G>A 13 70314559 CM C T Missense p.R6Q c.17G>A 13 70681815 CM C T Missense p.R6Q c.17G>A 13 70681815 ESCA C T Missense p.R701K c.2102G>A 13 70281842 CM C T Missense p.V705I c.2113G>A 13 70281831 RCCC C T Nonsense p.W264* c.791G>A 13 70535466 LUSC C T Nonsense p.W69* c.207G>A 13 70681625 CM C T SpliceAcceptorSNV . c.2016-1G>A 13 70281929 BRCA C T Synonymous p.E726E c.2178G>A 13 70281766 CM C T Synonymous p.G736G c.2208G>A 13 70275873 CM C T Synonymous p.Q711Q c.2133G>A 13 70281811 CM C T Synonymous p.R636R c.1908G>A 13 70293608 CM C T Synonymous p.V150V c.450G>A 13 70681382 CM C T Synonymous p.V501V c.1503G>A 13 70371006 CM C T Synonymous p.V570V c.1710G>A 13 70314618 CM G A IntronicSNV . c.1415-4633C>T 13 70375727 CLL G A IntronicSNV . c.1802+8556C>T 13 70305970 PIA G A IntronicSNV . c.680+3531C>T 13 70546221 CLL G A Missense p.A248V c.743C>T 13 70535514 GBM G A Missense p.A262V c.785C>T 13 70535472 HNSC G A Missense p.A589V c.1766C>T 13 70314562 LUAD G A Missense p.H194Y c.580C>T 13 70549852 CM G A Missense p.L397F c.1189C>T 13 70456453 LUAD G A Missense p.P622S c.1864C>T 13 70293652 CM G A Missense p.P748S c.2242C>T 13 70275839 BRCA G A Missense p.S312F c.935C>T 13 70514251 LUSC G A Missense p.S604L c.1811C>T 13 70293705 CM G A Missense p.S732F c.2195C>T 13 70275886 CM G A Missense p.T67I c.200C>T 13 70681632 LUSC G A Nonsense p.Q723* c.2167C>T 13 70281777 LUSC G A Nonsense p.R514* c.1540C>T 13 70370969 STAD G A Nonsense p.R514* c.1540C>T 13 70370969 UCEC G A Synonymous p.A584A c.1752C>T 13 70314576 BLCA G A Synonymous p.L145L c.433C>T 13 70681399 BLCA G A Synonymous p.L15L c.43C>T 13 70681789 CM G A Synonymous p.L485L c.1453C>T 13 70371056 CM G A Synonymous p.L57L c.171C>T 13 70681661 OV G A Synonymous p.L697L c.2091C>T 13 70281853 CM G A Synonymous p.T170T c.510C>T 13 70549922 HNSC G A Synonymous p.Y121Y c.363C>T 13 70681469 STAD G C IntronicSNV . c.1015-12312C>G 13 70468939 NSCLC G C IntronicSNV . c.1415-1057C>G 13 70372151 CLL G C Missense p.A248G c.743C>G 13 70535514 LUAD G C Missense p.L398V c.1192C>G 13 70456450 CM G C Missense p.L431V c.1291C>G 13 70413231 SCLC G C Missense p.Q60E c.178C>G 13 70681654 BRCA G C Missense p.R55G c.163C>G 13 70681669 LUSC G C Missense p.T101R c.302C>G 13 70681530 LUAD G C Synonymous p.L57L c.171C>G 13 70681661 LUSC G C Synonymous p.V267V c.801C>G 13 70535456 COREAD G - Frameshift p.L38Cfs*28 c.112delC 13 70681720 HNSC GTGTGTGTGTGTGTGAGA - IntronicDeletion . c.2015+156_2015+173delTCTCACACACACACACAC 13 70293328 CM G T Missense p.A33E c.98C>A 13 70681734 LUSC G T Missense p.A589D c.1766C>A 13 70314562 HNSC G T Missense p.D235E c.705C>A 13 70535552 BLCA G T Missense p.D413E c.1239C>A 13 70413283 LUSC G T Missense p.D8E c.24C>A 13 70681808 GBM G T Missense p.L414I c.1240C>A 13 70413282 LUSC G T Missense p.L567M c.1699C>A 13 70314629 LUSC G T Missense p.L56M c.166C>A 13 70681666 LUAD G T Missense p.P311Q c.932C>A 13 70514254 LUSC G T Missense p.P440T c.1318C>A 13 70413204 HNSC G T Missense p.P554T c.1660C>A 13 70314668 NSCLC G T Missense p.S565R c.1695C>A 13 70314633 LUAD G T Missense p.T519K c.1556C>A 13 70370953 LUSC G T Synonymous p.A333A c.999C>A 13 70514187 LUSC G T Synonymous p.G494G c.1482C>A 13 70371027 LUAD G T Synonymous p.L352L c.1056C>A 13 70456586 LUSC G T Synonymous p.P632P c.1896C>A 13 70293620 CLL T A Missense p.M381L c.1141A>T 13 70456501 HNSC T A Missense p.N261I c.782A>T 13 70535475 HNSC T A Missense p.N469I c.1406A>T 13 70413116 MB T A Missense p.N527Y c.1579A>T 13 70370930 LUAD T A Missense p.S585C c.1753A>T 13 70314575 LUAD T A Synonymous p.G164G c.492A>T 13 70681340 ESCA T A Synonymous p.I341I c.1023A>T 13 70456619 LUAD T A Synonymous p.P98P c.294A>T 13 70681538 LUAD T A Synonymous p.R6R c.18A>T 13 70681814 LUAD T A Synonymous p.T592T c.1776A>T 13 70314552 LUSC T C IntronicSNV . c.1014+2359A>G 13 70511813 CLL T C IntronicSNV . c.1015-12189A>G 13 70468816 HC T C IntronicSNV . c.1015-22964A>G 13 70479591 PIA T C IntronicSNV . c.2016-4012A>G 13 70285940 CLL T C IntronicSNV . c.681-866A>G 13 70536442 CLL T C IntronicSNV . c.818-9527A>G 13 70523895 CLL T C Missense p.N220S c.659A>G 13 70549773 CM T C Missense p.N628D c.1882A>G 13 70293634 CM T C Missense p.T159A c.475A>G 13 70681357 ALL T C Missense p.T541A c.1621A>G 13 70370888 HNSC T C Missense p.Y462C c.1385A>G 13 70413137 LUAD T C SpliceAcceptorSNV . c.681-2A>G 13 70535578 LUSC T C Synonymous p.G137G c.411A>G 13 70681421 HNSC T C Synonymous p.Q579Q c.1737A>G 13 70314591 GBM T G 3-UTRSNV . c.2244+70A>C 13 70275767 ESCA - TG IntronicInsertion . c.817+5279_817+5280insCA 13 70530160 CLL T G IntronicSNV . c.497+61176A>C 13 70620159 CLL T G IntronicSNV . c.497+61185A>C 13 70620150 CLL T G IntronicSNV . c.818-6632A>C 13 70521000 PIA T G Missense p.E373D c.1119A>C 13 70456523 BRCA T G Missense p.Q104P c.311A>C 13 70681521 LUAD T G Missense p.S59R c.175A>C 13 70681657 LUSC