Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-72432568-C-G p.Leu4Val missense ADAMTS14 1 46666 2.14289E-5 23333 0 NA
10-72432575-C-T p.Ala6Val missense ADAMTS14 1 46814 2.13611E-5 23407 0 NA
10-72432587-A-T p.Tyr10Phe missense ADAMTS14 5 46730 1.06998E-4 23365 0 0.00169405
10-72432589-C-T p.Leu11Leu synonymous ADAMTS14 1 46774 2.13794E-5 23387 0 NA
10-72432613-T-A p.Cys19Ser missense ADAMTS14 19 45076 4.2151E-4 22538 0 2.552E-4
10-72432614-G-C p.Cys19Ser missense ADAMTS14 4 44986 8.89166E-5 22493 0 1.27608E-4
10-72432620-C-T p.Ala21Val missense ADAMTS14 4 44360 9.01713E-5 22180 0 6.35324E-4
10-72432625-G-A p.Gly23Ser missense ADAMTS14 1 43870 2.27946E-5 21935 0 3.18837E-5
10-72432635-C-CCCCA p.Glu28fs frameshift ADAMTS14 1 42970 2.32721E-5 21485 0 NA
10-72432642-T-G c.82+2T>G splice_donor ADAMTS14 2 42630 4.69153E-5 21315 0 NA
10-72432645-G-A c.82+5G>A splice_region ADAMTS14 1 42456 2.35538E-5 21228 0 3.18756E-5
10-72434317-C-T p.His30Tyr missense ADAMTS14 1 82588 1.21083E-5 41294 0 NA
10-72434320-C-T p.Leu31Phe missense ADAMTS14 2 82626 2.42055E-5 41313 0 6.37146E-5
10-72434356-C-T p.Pro43Ser missense ADAMTS14 2 82762 2.41657E-5 41381 0 1.65758E-5
10-72434374-C-A p.Arg49Arg synonymous ADAMTS14 1 82678 1.20951E-5 41339 0 NA
10-72434374-C-T p.Arg49Trp missense ADAMTS14 11 82678 1.33046E-4 41339 0 6.25E-4
10-72434375-G-A p.Arg49Gln missense ADAMTS14 10 82652 1.20989E-4 41326 0 1.159E-4
10-72434380-C-T p.Arg51Cys missense ADAMTS14 7 82586 8.47601E-5 41293 0 5.79672E-5
10-72434381-G-A p.Arg51His missense ADAMTS14 3 82550 3.63416E-5 41275 0 2.78902E-5
10-72434387-T-C p.Leu53Pro missense ADAMTS14 1 82554 1.21133E-5 41277 0 3.98283E-6
10-72434391-C-T p.Ser54Ser synonymous ADAMTS14 9 82526 1.09057E-4 41263 0 5.03525E-4
10-72434394-C-T p.His55His synonymous ADAMTS14 6 82502 7.27255E-5 41251 0 4.14518E-5
10-72434419-T-G p.Ser64Ala missense ADAMTS14 1 82456 1.21277E-5 41228 0 NA
10-72434421-T-G p.Ser64Ser synonymous ADAMTS14 5 82450 6.06428E-5 41225 0 3.18492E-4
10-72434429-G-A p.Ser67Asn missense ADAMTS14 4 82344 4.85767E-5 41172 0 NA
10-72434432-T-C p.Met68Thr missense ADAMTS14 3 82346 3.64316E-5 41173 0 2.49443E-5
10-72434437-G-A p.Val70Met missense ADAMTS14 2 82272 2.43096E-5 41136 0 8.32251E-6
10-72434439-G-A p.Val70Val synonymous ADAMTS14 1 82244 1.21589E-5 41122 0 3.59161E-5
10-72434444-C-T p.Thr72Met missense ADAMTS14 5 82176 6.0845E-5 41088 0 2.74913E-4
10-72434445-G-A p.Thr72Thr synonymous ADAMTS14 1 82112 1.21785E-5 41056 0 7.98837E-6
10-72434461-C-T p.Arg78* stop_gained ADAMTS14 1 82144 1.21737E-5 41072 0 1.59246E-4
10-72434464-C-T p.His79Tyr missense ADAMTS14 656 82106 0.00798967 41053 16 0.016536
10-72434474-A-C p.His82Pro missense ADAMTS14 2 82084 2.43653E-5 41042 0 7.99674E-6
10-72434478-C-A p.Leu83Leu synonymous ADAMTS14 1 82124 1.21767E-5 41062 0 1.67825E-5
10-72434479-C-G p.Arg84Gly missense ADAMTS14 1 82140 1.21743E-5 41070 0 NA
10-72434480-G-A p.Arg84Gln missense ADAMTS14 1 82140 1.21743E-5 41070 0 2.00117E-5
10-72434488-C-T p.Arg87Cys missense ADAMTS14 1 82112 1.21785E-5 41056 0 8.40817E-6
10-72434489-G-A p.Arg87His missense ADAMTS14 5 82086 6.09117E-5 41043 0 6.37146E-5
10-72434490-C-A p.Arg87Arg synonymous ADAMTS14 2 82136 2.43499E-5 41068 0 NA
10-72434493-C-A p.Ser88Arg missense ADAMTS14 14 82172 1.70374E-4 41086 0 1.00107E-4
10-72434493-C-G p.Ser88Arg missense ADAMTS14 1 82172 1.21696E-5 41086 0 NA
10-72434507-G-A p.Gly93Glu missense ADAMTS14 6 82332 7.28757E-5 41166 0 3.18431E-4
10-72434521-C-T p.Pro98Ser missense ADAMTS14 3 82410 3.64033E-5 41205 0 3.1841E-5
10-72434526-C-T p.Gly99Gly synonymous ADAMTS14 7 82420 8.49308E-5 41210 0 9.61153E-5
10-72434527-AG-A p.Val101fs frameshift ADAMTS14 1 82464 1.21265E-5 41232 0 NA
10-72434536-C-T p.Arg103Cys missense ADAMTS14 2 82446 2.42583E-5 41223 0 2.52529E-5
10-72434567-TCG-T p.Phe113fs frameshift ADAMTS14 5 82908 6.03078E-5 41454 0 5.03525E-4
10-72434568-C-T p.Phe113Phe synonymous ADAMTS14 2 82920 2.41196E-5 41460 0 1.59236E-4
10-72434569-G-A p.Gly114Arg missense ADAMTS14 4 82930 4.82335E-5 41465 0 4.78103E-5
10-72434569-G-C p.Gly114Arg missense ADAMTS14 4 82930 4.82335E-5 41465 0 4.70135E-4
10-72434573-A-T p.Lys115Met missense ADAMTS14 3 82962 3.61611E-5 41481 0 3.18431E-5
10-72434580-G-A p.Leu117Leu synonymous ADAMTS14 153 82970 0.00184404 41485 1 0.0040282
10-72434587-C-T p.Arg120Cys missense ADAMTS14 2 83000 2.40964E-5 41500 0 3.18492E-5
10-72434587-C-A p.Arg120Ser missense ADAMTS14 1 83000 1.20482E-5 41500 0 NA
10-72434593-C-T p.Arg122Trp missense ADAMTS14 6 83006 7.22839E-5 41503 0 6.45321E-4
10-72434594-G-A p.Arg122Gln missense ADAMTS14 7 83016 8.43211E-5 41508 0 1.59205E-4
10-72434596-C-T p.Pro123Ser missense ADAMTS14 1 83008 1.2047E-5 41504 0 NA
10-72434602-C-T p.Arg125Trp missense ADAMTS14 91 83026 0.00109604 41513 0 0.00168811
10-72434603-G-A p.Arg125Gln missense ADAMTS14 1 83032 1.20435E-5 41516 0 NA
10-72434611-G-A p.Val128Ile missense ADAMTS14 1 83062 1.20392E-5 41531 0 8.31476E-6
10-72434612-T-C p.Val128Ala missense ADAMTS14 1 83044 1.20418E-5 41522 0 NA
10-72434630-T-C p.Val134Ala missense ADAMTS14 2 82984 2.4101E-5 41492 0 3.98248E-6
10-72434643-G-A p.Glu138Glu synonymous ADAMTS14 2 82636 2.42025E-5 41318 0 NA
10-72434644-GATTTTC-G p.Asp139_Arg141delinsGly disruptive_inframe_deletion ADAMTS14 1 82614 1.21045E-5 41307 0 3.49034E-4
10-72434645-A-G p.Asp139Gly missense ADAMTS14 1 82300 1.21507E-5 41150 0 0.00805639
10-72434650-C-T p.Arg141Trp missense ADAMTS14 1 82372 1.214E-5 41186 0 0.0040282
10-72434651-G-C p.Arg141Pro missense ADAMTS14 1 82342 1.21445E-5 41171 0 1.73889E-5
10-72434651-G-A p.Arg141Gln missense ADAMTS14 3 82342 3.64334E-5 41171 0 0.00100705
10-72434653-G-A p.Glu142Lys missense ADAMTS14 1 82426 1.21321E-5 41213 0 8.41199E-6
10-72434665-C-T p.Gln146* stop_gained ADAMTS14 1 82128 1.21761E-5 41064 0 NA
10-72434670-C-G p.Pro147Pro synonymous ADAMTS14 1 82242 1.21592E-5 41121 0 NA
10-72434674-C-T p.Arg149Trp missense ADAMTS14 38 82126 4.62704E-4 41063 0 4.12601E-4
10-72434675-G-A p.Arg149Gln missense ADAMTS14 16 82080 1.94932E-4 41040 0 1.0987E-4
10-72434684-G-A p.Cys152Tyr missense ADAMTS14 1 81880 1.2213E-5 40940 0 NA
10-72434699-G-A p.Gly157Asp missense ADAMTS14 1 81770 1.22294E-5 40885 0 8.4845E-6
10-72434713-C-T p.Pro162Ser missense ADAMTS14 1 81624 1.22513E-5 40812 0 3.18552E-5
10-72434725-G-A p.Val166Ile missense ADAMTS14 1 81522 1.22666E-5 40761 0 3.41192E-5
10-72434728-G-T p.Ala167Ser missense ADAMTS14 11 81502 1.34966E-4 40751 0 9.55597E-5
10-72434745-C-T p.Asp172Asp synonymous ADAMTS14 226 81350 0.00277812 40675 0 0.0043963
10-72434753-T-A c.522+2T>A splice_donor ADAMTS14 1 81252 1.23074E-5 40626 0 NA
10-72462069-C-T p.Ala175Val missense+splice_region ADAMTS14 6 83130 7.21761E-5 41565 0 6.25782E-4
10-72462070-G-A p.Ala175Ala splice_region+synonymous ADAMTS14 3 83140 3.60837E-5 41570 0 3.18431E-5
10-72462080-C-T p.Arg179Cys missense ADAMTS14 136 83184 0.00163493 41592 1 0.0014164
10-72462081-G-A p.Arg179His missense ADAMTS14 1 83184 1.20215E-5 41592 0 1.65106E-5
10-72462084-C-A p.Thr180Lys missense ADAMTS14 2 83190 2.40414E-5 41595 0 3.1839E-5
10-72462094-C-T p.Thr183Thr synonymous ADAMTS14 1 83184 1.20215E-5 41592 0 1.1935E-5
10-72462095-G-A p.Asp184Asn missense ADAMTS14 889 83168 0.0106892 41584 24 0.0207657
10-72462119-C-T p.Arg192Trp missense ADAMTS14 137 83142 0.00164778 41571 3 0.00439337
10-72462120-G-A p.Arg192Gln missense ADAMTS14 5 83148 6.01337E-5 41574 0 1.59266E-4
10-72462121-G-A p.Arg192Arg synonymous ADAMTS14 2 83156 2.40512E-5 41578 0 NA
10-72462139-G-A p.Glu198Glu synonymous ADAMTS14 3 83156 3.60768E-5 41578 0 7.16384E-5
10-72462139-G-C p.Glu198Asp missense ADAMTS14 1 83156 1.20256E-5 41578 0 NA
10-72462155-C-G p.His204Asp missense ADAMTS14 1 83118 1.20311E-5 41559 0 NA
10-72462163-G-A p.Val206Val synonymous ADAMTS14 1 83082 1.20363E-5 41541 0 3.98613E-6
10-72462170-C-T p.Arg209Trp missense ADAMTS14 1 83018 1.20456E-5 41509 0 9.55901E-5
10-72462171-G-A p.Arg209Gln missense ADAMTS14 62 83042 7.4661E-4 41521 0 0.00151057
10-72462175-G-A p.Glu210Glu synonymous ADAMTS14 1 83032 1.20435E-5 41516 0 NA
10-72462178-C-T p.Ala211Ala synonymous ADAMTS14 5 82996 6.02439E-5 41498 0 6.37227E-5
10-72462179-G-A p.Val212Ile missense ADAMTS14 3 82986 3.61507E-5 41493 0 6.79946E-5
10-72462202-T-C p.Pro219Pro synonymous ADAMTS14 1 82832 1.20726E-5 41416 0 NA
10-72462205-C-T p.Asp220Asp synonymous ADAMTS14 2 82750 2.41692E-5 41375 0 9.55962E-5
10-72462206-G-A p.Gly221Arg missense ADAMTS14 2 82744 2.41709E-5 41372 0 3.65367E-5
10-72462232-G-A c.679+8G>A splice_region ADAMTS14 4 82182 4.86725E-5 41091 0 1.59634E-4
10-72468335-TG-T c.680-8delG splice_region ADAMTS14 2 81948 2.44057E-5 40974 0 1.78431E-5
10-72468336-G-C c.680-8G>C splice_region ADAMTS14 3 81976 3.65961E-5 40988 0 7.12314E-5
10-72468337-G-A c.680-7G>A splice_region ADAMTS14 32 82008 3.90206E-4 41004 0 0.0015617
10-72468344-C-T p.Ala227Val missense+splice_region ADAMTS14 1 82134 1.21752E-5 41067 0 NA
10-72468350-G-A p.Gly229Asp missense ADAMTS14 1 82242 1.21592E-5 41121 0 4.02389E-6
10-72468384-G-T p.Val240Val synonymous ADAMTS14 11 82594 1.33182E-4 41297 0 1.23663E-4
10-72468386-G-A p.Gly241Glu missense ADAMTS14 1 82604 1.2106E-5 41302 0 NA
10-72468391-C-T p.Gln243* stop_gained ADAMTS14 1 82614 1.21045E-5 41307 0 NA
10-72468397-G-A p.Gly245Ser missense ADAMTS14 4 82646 4.83992E-5 41323 0 2.78956E-5
10-72468399-C-T p.Gly245Gly synonymous ADAMTS14 276 82642 0.00333971 41321 5 0.00724684
10-72468409-C-T p.Arg249Trp missense ADAMTS14 1 82668 1.20966E-5 41334 0 3.31713E-5
10-72468410-G-A p.Arg249Gln missense ADAMTS14 4 82722 4.83547E-5 41361 0 3.98616E-5
10-72468418-C-T p.Arg252Trp missense ADAMTS14 2 82750 2.41692E-5 41375 0 7.97003E-6
10-72468419-G-A p.Arg252Gln missense ADAMTS14 1 82758 1.20834E-5 41379 0 1.19531E-5
10-72468434-G-A p.Gly257Asp missense ADAMTS14 2 82892 2.41278E-5 41446 0 3.19203E-5
10-72468435-C-T p.Gly257Gly synonymous ADAMTS14 1 82890 1.20642E-5 41445 0 3.98153E-6
10-72468437-G-T p.Ser258Ile missense ADAMTS14 1 82924 1.20592E-5 41462 0 NA
10-72468440-A-G p.Tyr259Cys missense ADAMTS14 1 82936 1.20575E-5 41468 0 1.99037E-5
10-72468443-G-A p.Ser260Asn missense ADAMTS14 3 82952 3.61655E-5 41476 0 8.262E-6
10-72468447-C-T p.Ile261Ile synonymous ADAMTS14 50 82924 6.02962E-4 41462 0 3.71778E-4
10-72468465-G-A p.Val267Val synonymous ADAMTS14 1 83028 1.20441E-5 41514 0 NA
10-72468468-C-T p.Asp268Asp synonymous ADAMTS14 9 83002 1.08431E-4 41501 2 6.25E-4
10-72468469-G-A p.Asp269Asn missense ADAMTS14 9 83014 1.08415E-4 41507 0 6.76493E-5
10-72468473-C-T p.Ser270Leu missense ADAMTS14 748 82976 0.00901465 41488 10 0.0171454
10-72468474-G-A p.Ser270Ser synonymous ADAMTS14 5 83022 6.0225E-5 41511 0 3.97966E-5
10-72468478-G-T p.Val272Phe missense ADAMTS14 1 83018 1.20456E-5 41509 0 NA
10-72468481-C-T p.Arg273Cys missense ADAMTS14 1 83002 1.20479E-5 41501 0 6.25E-4
10-72468482-G-A p.Arg273His missense ADAMTS14 1 82994 1.20491E-5 41497 0 1.65104E-5
10-72468491-G-A p.Gly276Asp missense ADAMTS14 1 82970 1.20525E-5 41485 0 1.65188E-5
10-72468510-CTA-C p.Tyr283fs frameshift ADAMTS14 2 82882 2.41307E-5 41441 0 8.29779E-6
10-72468517-C-T p.Leu285Phe missense ADAMTS14 1 82736 1.20866E-5 41368 0 3.99422E-6
10-72468519-C-T p.Leu285Leu synonymous ADAMTS14 5 82680 6.04741E-5 41340 0 2.79714E-5
10-72468521-C-A p.Thr286Asn missense ADAMTS14 5 82638 6.05049E-5 41319 0 3.20431E-5
10-72468525-C-T p.Leu287Leu synonymous ADAMTS14 2 82450 2.42571E-5 41225 0 3.34851E-5
10-72468525-C-G p.Leu287Leu synonymous ADAMTS14 2 82450 2.42571E-5 41225 0 NA
10-72468527-T-G p.Met288Arg missense ADAMTS14 3 82326 3.64405E-5 41163 0 NA
10-72468534-C-A p.Ile290Ile splice_region+synonymous ADAMTS14 2 81788 2.44535E-5 40894 0 5.04032E-4
10-72468534-C-T p.Ile290Ile splice_region+synonymous ADAMTS14 2 81788 2.44535E-5 40894 0 3.36984E-5
10-72468535-G-A c.870+1G>A splice_donor ADAMTS14 3 81972 3.65979E-5 40986 0 2.82753E-5
10-72468537-G-A c.870+3G>A splice_region ADAMTS14 214 81878 0.00261364 40939 2 0.00221282
10-72468539-G-C c.870+5G>C splice_region ADAMTS14 2 81770 2.44588E-5 40885 0 NA
10-72489046-GC-TT c.871-4_871-3delGCinsTT splice_region ADAMTS14 1 82810 1.20758E-5 41405 0 NA
10-72489048-A-G c.871-2A>G splice_acceptor ADAMTS14 2 82858 2.41377E-5 41429 0 4.11896E-5
10-72489067-C-T p.His296His synonymous ADAMTS14 58 83030 6.98543E-4 41515 0 0.00146609
10-72489070-T-A p.Asp297Glu missense ADAMTS14 3 83066 3.61159E-5 41533 0 2.47117E-5
10-72489071-G-A p.Glu298Lys missense ADAMTS14 1 83082 1.20363E-5 41541 0 NA
10-72489074-T-A p.Ser299Thr missense ADAMTS14 2 83088 2.40709E-5 41544 0 8.23723E-6
10-72489082-G-A p.Gly301Gly synonymous ADAMTS14 4 83128 4.81186E-5 41564 0 1.98815E-4
10-72489083-G-T p.Val302Phe missense ADAMTS14 2 83112 2.40639E-5 41556 0 1.19289E-5
10-72489084-T-C p.Val302Ala missense ADAMTS14 60 83116 7.21883E-4 41558 0 5.03525E-4
10-72489087-A-G p.His303Arg missense ADAMTS14 64 83112 7.70045E-4 41556 0 0.00194292
10-72489089-A-C p.Ile304Leu missense ADAMTS14 1 83124 1.20302E-5 41562 0 NA
10-72489103-C-T p.Leu308Leu synonymous ADAMTS14 21 83064 2.52817E-4 41532 0 5.03525E-4
10-72489104-G-A p.Val309Ile missense ADAMTS14 9 83050 1.08368E-4 41525 0 5.43675E-4
10-72489108-G-A p.Arg310His missense ADAMTS14 3 83026 3.61333E-5 41513 0 2.78343E-5
10-72489109-C-T p.Arg310Arg synonymous ADAMTS14 56 83030 6.74455E-4 41515 0 0.00318512
10-72489119-G-T p.Val314Phe missense ADAMTS14 1 82970 1.20525E-5 41485 0 NA
10-72489123-G-C p.Gly315Ala missense ADAMTS14 1 82940 1.20569E-5 41470 0 NA
10-72489127-C-A p.Tyr316* stop_gained ADAMTS14 4 82900 4.82509E-5 41450 0 NA
10-72489128-C-T p.Arg317* stop_gained ADAMTS14 4 82862 4.8273E-5 41431 0 4.11997E-5
10-72489129-G-A p.Arg317Gln missense ADAMTS14 1 82860 1.20685E-5 41430 0 6.37227E-5
10-72489141-A-G c.954+8A>G splice_region ADAMTS14 4 82664 4.83887E-5 41332 0 8.24334E-6
10-72489854-G-C c.955-4G>C splice_region ADAMTS14 2 80264 2.49178E-5 40132 0 8.70625E-6
10-72489856-A-T c.955-2A>T splice_acceptor ADAMTS14 1 80454 1.24295E-5 40227 0 NA
10-72489865-G-A p.Ser321Asn missense ADAMTS14 1 80888 1.23628E-5 40444 0 NA
10-72489869-G-A p.Leu322Leu synonymous ADAMTS14 1 81108 1.23292E-5 40554 0 8.47558E-6
10-72489872-C-T p.Ile323Ile synonymous ADAMTS14 346 81202 0.00426098 40601 5 0.00808898
10-72489875-G-A p.Glu324Glu synonymous ADAMTS14 2 81380 2.45761E-5 40690 0 4.19928E-5
10-72489876-C-T p.Arg325Cys missense ADAMTS14 1 81330 1.22956E-5 40665 0 0.00125156
10-72489877-G-A p.Arg325His missense ADAMTS14 1 81414 1.22829E-5 40707 0 3.18512E-5
10-72489877-G-C p.Arg325Pro missense ADAMTS14 1 81414 1.22829E-5 40707 0 NA
10-72489878-C-A p.Arg325Arg synonymous ADAMTS14 167 81460 0.00205009 40730 0 0.0049691
10-72489878-C-T p.Arg325Arg synonymous ADAMTS14 3 81472 3.68225E-5 40736 0 2.0271E-5
10-72489878-C-G p.Arg325Arg synonymous ADAMTS14 1 81472 1.22742E-5 40736 0 NA
10-72489879-G-A p.Gly326Arg missense ADAMTS14 19 81606 2.32826E-4 40803 0 6.68832E-4
10-72489891-C-T p.Arg330Cys missense ADAMTS14 265 81980 0.0032325 40990 3 0.00875
10-72489892-G-A p.Arg330His missense ADAMTS14 5 81960 6.10054E-5 40980 0 6.36943E-5
10-72489897-C-T p.Leu332Leu synonymous ADAMTS14 1 82144 1.21737E-5 41072 0 3.18492E-5
10-72489906-G-T p.Val335Leu missense ADAMTS14 3 82298 3.64529E-5 41149 0 0.00100806
10-72489908-G-A p.Val335Val synonymous ADAMTS14 1 82298 1.2151E-5 41149 0 NA
10-72489912-C-T p.Arg337Cys missense ADAMTS14 1 82336 1.21454E-5 41168 0 1.65519E-5
10-72489913-G-A p.Arg337His missense ADAMTS14 1 82320 1.21477E-5 41160 0 7.60328E-5
10-72489919-C-T p.Ala339Val missense ADAMTS14 2 82392 2.42742E-5 41196 0 6.39361E-5
10-72489922-A-T p.His340Leu missense ADAMTS14 1 82394 1.21368E-5 41197 0 NA
10-72489926-C-G p.Ser341Ser synonymous ADAMTS14 1 82472 1.21253E-5 41236 0 NA
10-72489930-C-T p.Gln343* stop_gained ADAMTS14 1 82496 1.21218E-5 41248 0 NA
10-72489933-C-T p.Arg344Cys missense ADAMTS14 9 82478 1.0912E-4 41239 0 1.2738E-4
10-72489947-C-T p.Ser348Ser synonymous ADAMTS14 1 82564 1.21118E-5 41282 0 8.26966E-6
10-72489950-C-T p.His349His synonymous ADAMTS14 5 82568 6.05561E-5 41284 0 6.36983E-5
10-72489951-G-A p.Ala350Thr missense ADAMTS14 1 82550 1.21139E-5 41275 0 3.98533E-6
10-72489968-C-T p.His355His synonymous ADAMTS14 2 82564 2.42236E-5 41282 0 3.18451E-5
10-72489969-G-A p.Val356Ile missense ADAMTS14 2 82560 2.42248E-5 41280 0 3.98438E-6
10-72489970-T-C p.Val356Ala missense ADAMTS14 1 82566 1.21115E-5 41283 0 NA
10-72489974-G-T p.Val357Val synonymous ADAMTS14 1 82530 1.21168E-5 41265 0 3.9854E-6
10-72489978-C-T p.Leu359Phe missense ADAMTS14 1 82510 1.21197E-5 41255 0 3.98699E-6
10-72489984-C-T p.Arg361Trp missense ADAMTS14 2 82442 2.42595E-5 41221 0 3.32734E-5
10-72489985-G-A p.Arg361Gln missense ADAMTS14 3 82410 3.64033E-5 41205 0 7.97696E-6
10-72489986-G-A p.Arg361Arg synonymous ADAMTS14 1 82404 1.21353E-5 41202 0 NA
10-72489992-C-G p.Asp363Glu missense ADAMTS14 1 82318 1.2148E-5 41159 0 NA
10-72490003-C-T p.Ser367Leu missense+splice_region ADAMTS14 1 82128 1.21761E-5 41064 0 NA
10-72492004-C-T c.1103-6C>T splice_region ADAMTS14 3 82336 3.64361E-5 41168 0 1.99038E-5
10-72492005-G-A c.1103-5G>A splice_region ADAMTS14 1 82342 1.21445E-5 41171 0 8.33028E-5
10-72492011-G-A p.Gly368Gly splice_region+synonymous ADAMTS14 108 82542 0.00130842 41271 1 0.0120846
10-72492018-C-T p.Pro371Ser missense ADAMTS14 2 82696 2.4185E-5 41348 0 4.77403E-5
10-72492020-C-T p.Pro371Pro synonymous ADAMTS14 88 82706 0.00106401 41353 0 0.0022293
10-72492021-G-T p.Val372Phe missense ADAMTS14 1 82724 1.20884E-5 41362 0 4.9627E-5
10-72492021-G-A p.Val372Ile missense ADAMTS14 1 82724 1.20884E-5 41362 0 5.03525E-4
10-72492044-G-A p.Leu379Leu synonymous ADAMTS14 1 82930 1.20584E-5 41465 0 NA
10-72492065-T-C p.His386His synonymous ADAMTS14 3 82952 3.61655E-5 41476 0 3.18492E-5
10-72492077-C-A p.Phe390Leu missense ADAMTS14 1 82914 1.20607E-5 41457 0 NA
10-72492089-C-T p.Phe394Phe synonymous ADAMTS14 1 82790 1.20788E-5 41395 0 3.58383E-5
10-72492090-G-A p.Val395Met missense ADAMTS14 2 82794 2.41563E-5 41397 0 6.37146E-5
10-72492107-C-T p.Thr400Thr synonymous ADAMTS14 2 82532 2.4233E-5 41266 0 6.37064E-5
10-72492108-G-A p.Gly401Ser missense ADAMTS14 1 82490 1.21227E-5 41245 0 1.99593E-5
10-72492113-C-T p.His402His splice_region+synonymous ADAMTS14 6 82302 7.29022E-5 41151 0 1.27397E-4
10-72492114-G-A p.Val403Met missense+splice_region ADAMTS14 1 82272 1.21548E-5 41136 0 3.18512E-5
10-72492115-T-A p.Val403Glu missense+splice_region ADAMTS14 3 82216 3.64892E-5 41108 0 5.89245E-5
10-72492120-G-A c.1208+5G>A splice_region ADAMTS14 1 82056 1.21868E-5 41028 0 NA
10-72493633-C-T c.1209-8C>T splice_region ADAMTS14 5 81822 6.11083E-5 40911 0 2.41268E-5
10-72493644-C-T p.Leu404Leu synonymous ADAMTS14 2 82058 2.4373E-5 41029 0 1.27502E-4
10-72493645-G-A p.Gly405Ser missense ADAMTS14 2 82070 2.43694E-5 41035 0 8.33167E-6
10-72493659-C-T p.Asp409Asp synonymous ADAMTS14 13 82412 1.57744E-4 41206 0 0.00100705
10-72493660-G-A p.Gly410Ser missense ADAMTS14 1 82418 1.21333E-5 41209 0 8.29105E-6
10-72493660-G-C p.Gly410Arg missense ADAMTS14 1 82418 1.21333E-5 41209 0 NA
10-72493667-G-C p.Gly412Ala missense ADAMTS14 1 82552 1.21136E-5 41276 0 NA
10-72493669-A-G p.Asn413Asp missense ADAMTS14 1 82528 1.21171E-5 41264 0 3.18939E-5
10-72493677-T-G p.Cys415Trp missense ADAMTS14 2 82588 2.42166E-5 41294 0 NA
10-72493678-G-A p.Ala416Thr missense ADAMTS14 1 82614 1.21045E-5 41307 0 3.9827E-6
10-72493683-T-G p.Asp417Glu missense ADAMTS14 1 82610 1.21051E-5 41305 0 7.9647E-6
10-72493693-C-T p.Leu421Leu synonymous ADAMTS14 1 82644 1.21001E-5 41322 0 NA
10-72493697-G-T p.Gly422Val missense ADAMTS14 1 82680 1.20948E-5 41340 0 1.19432E-5
10-72493697-G-A p.Gly422Asp missense ADAMTS14 5 82680 6.04741E-5 41340 0 6.25E-4
10-72493702-G-A p.Val424Ile missense ADAMTS14 3 82700 3.62757E-5 41350 0 7.96185E-5
10-72493709-C-T p.Ala426Val missense ADAMTS14 1 82672 1.2096E-5 41336 0 1.59241E-5
10-72493710-G-A p.Ala426Ala synonymous ADAMTS14 2 82672 2.4192E-5 41336 0 0.00100705
10-72493723-G-A p.Ala431Thr missense ADAMTS14 1 82742 1.20858E-5 41371 0 NA
10-72493733-A-G p.His434Arg missense ADAMTS14 1 82788 1.2079E-5 41394 0 1.65355E-5
10-72493735-C-T p.Arg435Cys missense ADAMTS14 3 82794 3.62345E-5 41397 0 6.37471E-5
10-72493736-G-A p.Arg435His missense ADAMTS14 6 82752 7.25058E-5 41376 0 5.57538E-5
10-72493743-T-C p.His437His synonymous ADAMTS14 6 82822 7.24445E-5 41411 0 6.37674E-5
10-72493748-C-T p.Ser439Phe missense ADAMTS14 1 82798 1.20776E-5 41399 0 3.18776E-5
10-72493751-G-A p.Arg440His missense ADAMTS14 3 82734 3.62608E-5 41367 0 NA
10-72493774-C-T p.Arg448Cys missense ADAMTS14 2 82434 2.42618E-5 41217 0 2.49663E-5
10-72493775-G-A p.Arg448His missense ADAMTS14 4 82354 4.85708E-5 41177 0 6.25E-4
10-72493780-C-A p.Leu450Ile missense ADAMTS14 2 82306 2.42996E-5 41153 0 NA
10-72493782-C-T p.Leu450Leu splice_region+synonymous ADAMTS14 1 82264 1.2156E-5 41132 0 4.01316E-6
10-72493784-C-T p.Pro451Leu missense+splice_region ADAMTS14 6 82192 7.29998E-5 41096 0 5.62561E-5
10-72493788-G-A c.1352+4G>A splice_region ADAMTS14 6 82000 7.31707E-5 41000 0 NA
10-72494921-G-A c.1353-4G>A splice_region ADAMTS14 9 82380 1.0925E-4 41190 0 6.25E-4
10-72494927-C-T p.Ser452Phe missense+splice_region ADAMTS14 1 82382 1.21386E-5 41191 0 NA
10-72494931-C-T p.Tyr453Tyr synonymous ADAMTS14 3 82418 3.63998E-5 41209 0 6.36862E-5
10-72494932-G-A p.Asp454Asn missense ADAMTS14 1 82408 1.21347E-5 41204 0 6.37146E-5
10-72494936-GC-AA p.Cys455* stop_gained ADAMTS14 3 82446 3.63875E-5 41223 0 NA
10-72494940-C-T p.Leu456Leu synonymous ADAMTS14 3 82504 3.63619E-5 41252 0 3.99683E-6
10-72494943-C-T p.Leu457Leu synonymous ADAMTS14 6 82512 7.27167E-5 41256 0 8.25628E-5
10-72494943-C-G p.Leu457Leu synonymous ADAMTS14 1 82512 1.21194E-5 41256 0 NA
10-72494944-G-A p.Asp458Asn missense ADAMTS14 1 82512 1.21194E-5 41256 0 3.99754E-6
10-72494949-C-T p.Asp459Asp synonymous ADAMTS14 1 82558 1.21127E-5 41279 0 9.55231E-5
10-72494968-C-G p.Pro466Ala missense ADAMTS14 1 82640 1.21007E-5 41320 0 3.1841E-5
10-72494972-A-C p.Gln467Pro missense ADAMTS14 1 82686 1.20939E-5 41343 0 6.25E-4
10-72494994-C-T p.Ile474Ile synonymous ADAMTS14 1 82730 1.20875E-5 41365 0 NA
10-72495009-T-C p.Asp479Asp synonymous ADAMTS14 1 82708 1.20907E-5 41354 0 NA
10-72495019-C-T p.Arg483Cys missense ADAMTS14 4 82660 4.8391E-5 41330 0 4.37891E-5
10-72495020-G-A p.Arg483His missense ADAMTS14 1 82658 1.2098E-5 41329 0 6.3674E-5
10-72495020-G-T p.Arg483Leu missense ADAMTS14 1 82658 1.2098E-5 41329 0 NA
10-72495045-G-A p.Gln491Gln synonymous ADAMTS14 1 82392 1.21371E-5 41196 0 8.28665E-6
10-72495047-C-A p.Thr492Asn missense ADAMTS14 8 82364 9.71298E-5 41182 0 3.18471E-5
10-72495058-G-C c.1485+1G>C splice_donor ADAMTS14 1 82116 1.21779E-5 41058 0 NA
10-72495060-A-G c.1485+3A>G splice_region ADAMTS14 3 82094 3.65435E-5 41047 0 3.18573E-5
10-72496453-C-T p.Pro501Pro synonymous ADAMTS14 2 83180 2.40442E-5 41590 0 NA
10-72496459-G-A p.Lys503Lys synonymous ADAMTS14 1 83206 1.20184E-5 41603 0 NA
10-72496462-G-A p.Gln504Gln synonymous ADAMTS14 1 83196 1.20198E-5 41598 0 NA
10-72496481-G-A p.Asp511Asn missense ADAMTS14 1 83224 1.20158E-5 41612 0 7.96299E-6
10-72496484-A-C p.Asn512His missense ADAMTS14 1 83240 1.20135E-5 41620 0 6.37471E-5
10-72496486-C-T p.Asn512Asn synonymous ADAMTS14 1 83244 1.20129E-5 41622 0 NA
10-72496487-C-T p.Pro513Ser missense ADAMTS14 1 83238 1.20137E-5 41619 0 NA
10-72496488-C-T p.Pro513Leu missense ADAMTS14 2 83232 2.40292E-5 41616 0 3.30077E-5
10-72496488-C-G p.Pro513Arg missense ADAMTS14 1 83232 1.20146E-5 41616 0 NA
10-72496489-G-A p.Pro513Pro synonymous ADAMTS14 2 83230 2.40298E-5 41615 0 3.30071E-5
10-72496495-C-G p.Phe515Leu missense ADAMTS14 1 83234 1.20143E-5 41617 0 NA
10-72496513-G-T p.Gly521Gly synonymous ADAMTS14 3 83188 3.60629E-5 41594 0 5.03525E-4
10-72496514-C-T p.Pro522Ser missense ADAMTS14 1 83180 1.20221E-5 41590 0 3.18878E-5
10-72496514-C-A p.Pro522Thr missense ADAMTS14 4 83180 4.80885E-5 41590 0 2.4309E-4
10-72496515-C-T p.Pro522Leu missense ADAMTS14 4 83170 4.80943E-5 41585 0 6.7728E-5
10-72496518-C-T p.Pro523Leu missense ADAMTS14 2 83166 2.40483E-5 41583 0 3.3042E-5
10-72496518-C-G p.Pro523Arg missense ADAMTS14 1 83166 1.20241E-5 41583 0 NA
10-72496519-G-A p.Pro523Pro synonymous ADAMTS14 37 83160 4.44925E-4 41580 1 8.48538E-4
10-72496533-A-T p.Glu528Val missense ADAMTS14 1 83080 1.20366E-5 41540 0 NA
10-72496539-C-T p.Ala530Val missense ADAMTS14 3 83012 3.61394E-5 41506 0 9.11381E-5
10-72496543-CGGCAA-C p.Thr527fs frameshift ADAMTS14 1 82942 1.20566E-5 41471 0 NA
10-72496544-G-A p.Gly532Ser missense ADAMTS14 3 82944 3.6169E-5 41472 0 3.18939E-5
10-72496553-C-T c.1599+4C>T splice_region ADAMTS14 3 82734 3.62608E-5 41367 0 3.18837E-5
10-72498598-T-G p.Trp534Gly missense+splice_region ADAMTS14 1 82818 1.20747E-5 41409 0 NA
10-72498603-C-T p.Cys535Cys synonymous ADAMTS14 3 82884 3.61952E-5 41442 0 6.37349E-5
10-72498604-T-G p.Phe536Val missense ADAMTS14 1 82900 1.20627E-5 41450 0 3.18796E-5
10-72498610-G-T p.Gly538Cys missense ADAMTS14 1 82938 1.20572E-5 41469 0 NA
10-72498611-G-T p.Gly538Val missense ADAMTS14 1 82940 1.20569E-5 41470 0 NA
10-72498617-G-A p.Cys540Tyr missense ADAMTS14 1 82984 1.20505E-5 41492 0 NA
10-72498629-C-T p.Ser544Leu missense ADAMTS14 6 83052 7.22439E-5 41526 0 1.19395E-5
10-72498630-G-A p.Ser544Ser synonymous ADAMTS14 1 83036 1.2043E-5 41518 0 3.30852E-5
10-72498632-C-T p.Pro545Leu missense ADAMTS14 3 83062 3.61176E-5 41531 0 1.2408E-4
10-72498633-G-A p.Pro545Pro synonymous ADAMTS14 5 83086 6.01786E-5 41543 0 0.00125
10-72498636-GC-AA p.GluGln546GluLys missense ADAMTS14 29 83100 3.48977E-4 41550 0 NA
10-72498636-G-A p.Glu546Glu synonymous ADAMTS14 1 83100 1.20337E-5 41550 0 0.00183878
10-72498637-C-A p.Gln547Lys missense ADAMTS14 11 83094 1.3238E-4 41547 0 0.00189049
10-72498642-A-G p.Thr548Thr synonymous ADAMTS14 7 83118 8.42176E-5 41559 0 NA
10-72498654-T-G p.Asp552Glu missense ADAMTS14 2 83108 2.40651E-5 41554 0 3.98134E-6
10-72498680-T-C p.Phe561Ser missense ADAMTS14 1 83034 1.20433E-5 41517 0 2.49343E-5
10-72498692-C-T p.Ser565Leu missense ADAMTS14 2 82924 2.41185E-5 41462 0 NA
10-72498693-G-A p.Ser565Ser synonymous ADAMTS14 1 82912 1.2061E-5 41456 0 1.66817E-5
10-72498694-C-T p.Arg566Trp missense ADAMTS14 2 82874 2.4133E-5 41437 0 1.59557E-5
10-72498694-C-A p.Arg566Arg synonymous ADAMTS14 1 82874 1.20665E-5 41437 0 6.37592E-5
10-72498695-G-A p.Arg566Gln missense ADAMTS14 5 82884 6.03253E-5 41442 0 6.37796E-5
10-72498701-G-A p.Cys568Tyr missense ADAMTS14 1 82782 1.20799E-5 41391 0 NA
10-72498707-G-A p.Gly570Asp missense ADAMTS14 1 82598 1.21068E-5 41299 0 NA
10-72498708-C-T p.Gly570Gly synonymous ADAMTS14 8 82498 9.6972E-5 41249 0 0.0020141
10-72498709-G-A p.Gly571Arg missense ADAMTS14 3 82540 3.6346E-5 41270 0 5.03525E-4
10-72498714-G-A p.Val572Val synonymous ADAMTS14 10 82406 1.2135E-4 41203 0 3.55258E-4
10-72498716-G-A p.Arg573Gln missense ADAMTS14 2 82342 2.42889E-5 41171 0 6.26566E-4
10-72498728-G-A p.Arg577Gln missense ADAMTS14 1 81752 1.22321E-5 40876 0 2.58398E-5
10-72498730-A-AGCTGCAACAACCCCTCGT p.Ser565delinsCysAlaAlaThrThrProPro disruptive_inframe_insertion ADAMTS14 1 81620 1.22519E-5 40810 0 NA
10-72498743-C-T p.Pro582Leu missense ADAMTS14 1 80768 1.23811E-5 40384 0 NA
10-72498746-C-T p.Ser583Phe missense+splice_region ADAMTS14 2 80420 2.48694E-5 40210 0 5.38374E-5
10-72498747-G-A c.1748+1G>A splice_donor ADAMTS14 3 80348 3.73376E-5 40174 0 3.31011E-5
10-72498747-G-C c.1748+1G>C splice_donor ADAMTS14 1 80348 1.24459E-5 40174 0 NA
10-72498749-G-A c.1748+3G>A splice_region ADAMTS14 2 80194 2.49395E-5 40097 0 4.4349E-5
10-72500736-G-T c.1749-7G>T splice_region ADAMTS14 1 82846 1.20706E-5 41423 0 NA
10-72500752-T-A p.Tyr586* stop_gained ADAMTS14 3 83038 3.6128E-5 41519 0 3.98216E-6
10-72500752-T-C p.Tyr586Tyr synonymous ADAMTS14 3 83038 3.6128E-5 41519 0 NA
10-72500760-G-A p.Arg589His missense ADAMTS14 5 83032 6.02177E-5 41516 0 5.80114E-5
10-72500762-C-T p.Leu590Leu synonymous ADAMTS14 1 83076 1.20372E-5 41538 0 NA
10-72500763-T-C p.Leu590Pro missense ADAMTS14 67803 82316 0.823692 41158 28097 0.86125
10-72500763-TG-CA p.Leu590Pro missense ADAMTS14 1 83082 1.20363E-5 41541 0 NA
10-72500764-G-A p.Leu590Leu synonymous ADAMTS14 1 83098 1.2034E-5 41549 0 0.001875
10-72500772-G-A p.Gly593Glu missense ADAMTS14 1 83132 1.20291E-5 41566 0 3.58132E-5
10-72500773-G-T p.Gly593Gly synonymous ADAMTS14 2 83136 2.4057E-5 41568 0 3.18552E-5
10-72500785-G-A p.Glu597Glu synonymous ADAMTS14 3 83144 3.6082E-5 41572 0 NA
10-72500789-C-A p.Gln599Lys missense ADAMTS14 2 83172 2.40466E-5 41586 0 7.95697E-6
10-72500793-T-A p.Val600Asp missense ADAMTS14 3 83168 3.60716E-5 41584 0 3.18593E-5
10-72500802-G-A p.Ser603Asn missense ADAMTS14 1 83150 1.20265E-5 41575 0 2.47496E-5
10-72500803-C-T p.Ser603Ser synonymous ADAMTS14 252 83134 0.00303125 41567 0 0.00235669
10-72500804-G-A p.Glu604Lys missense ADAMTS14 1 83152 1.20262E-5 41576 0 3.97836E-6
10-72500811-GC-G p.Pro607fs frameshift ADAMTS14 2 83130 2.40587E-5 41565 0 1.65003E-5
10-72500813-C-T p.Pro607Ser missense ADAMTS14 6 83124 7.21813E-5 41562 0 5.03525E-4
10-72500824-C-T p.Tyr610Tyr synonymous ADAMTS14 1285 83072 0.0154685 41536 56 0.0334523
10-72500825-G-A p.Glu611Lys missense ADAMTS14 1 83104 1.20331E-5 41552 0 4.37612E-5
10-72500834-C-T p.Arg614Trp missense ADAMTS14 4 83074 4.81498E-5 41537 0 3.18471E-5
10-72500835-G-A p.Arg614Gln missense ADAMTS14 2 83060 2.4079E-5 41530 0 1.27445E-4
10-72500838-C-T p.Ala615Val missense ADAMTS14 1 83048 1.20412E-5 41524 0 8.25123E-6
10-72500839-C-T p.Ala615Ala synonymous ADAMTS14 1 83050 1.20409E-5 41525 0 1.65016E-5
10-72500855-C-T p.Arg621Cys missense ADAMTS14 5 82948 6.02787E-5 41474 0 2.22944E-4
10-72500856-G-A p.Arg621His missense ADAMTS14 4 82942 4.82265E-5 41471 0 2.78603E-5
10-72500857-C-T p.Arg621Arg synonymous ADAMTS14 2 82938 2.41144E-5 41469 0 3.97934E-6
10-72500862-C-T p.Ser623Phe missense ADAMTS14 2 82908 2.41231E-5 41454 0 3.30126E-5
10-72500863-C-G p.Ser623Ser synonymous ADAMTS14 50318 82010 0.613559 41005 15444 0.642647
10-72500863-C-A p.Ser623Ser synonymous ADAMTS14 1 82894 1.20636E-5 41447 0 3.83117E-4
10-72500886-A-G p.Lys631Arg missense ADAMTS14 1 82634 1.21016E-5 41317 0 NA
10-72500892-G-A p.Ser633Asn missense ADAMTS14 1 82480 1.21242E-5 41240 0 7.9708E-6
10-72500898-T-C p.Val635Ala missense ADAMTS14 1 82318 1.2148E-5 41159 0 1.59499E-5
10-72500900-C-T p.Pro636Ser missense ADAMTS14 2 82256 2.43143E-5 41128 0 3.99001E-6
10-72500905-C-T p.Tyr637Tyr synonymous ADAMTS14 1 82020 1.21921E-5 41010 0 6.25E-4
10-72500914-C-T p.Asp640Asp synonymous ADAMTS14 2 81614 2.45056E-5 40807 0 6.81106E-5
10-72503305-C-T p.Asp642Asp splice_region+synonymous ADAMTS14 9 83020 1.08408E-4 41510 0 1.20176E-4
10-72503306-G-A p.Ala643Thr missense+splice_region ADAMTS14 1 83018 1.20456E-5 41509 0 1.66165E-5
10-72503309-C-T p.Gln644* stop_gained ADAMTS14 1 83046 1.20415E-5 41523 0 8.30565E-6
10-72503310-A-G p.Gln644Arg missense ADAMTS14 2 83054 2.40807E-5 41527 0 8.3051E-6
10-72503325-T-C p.Ile649Thr missense ADAMTS14 2 83080 2.40732E-5 41540 0 8.02845E-6
10-72503334-C-T p.Ser652Leu missense ADAMTS14 2 83060 2.4079E-5 41530 0 3.18573E-5
10-72503335-G-A p.Ser652Ser synonymous ADAMTS14 8 83062 9.63136E-5 41531 0 5.03525E-4
10-72503337-C-T p.Ala653Val missense ADAMTS14 2 83058 2.40796E-5 41529 0 5.03525E-4
10-72503343-C-T p.Thr655Met missense ADAMTS14 1 83050 1.20409E-5 41525 0 1.19953E-5
10-72503344-G-A p.Thr655Thr synonymous ADAMTS14 17711 82728 0.214087 41364 2012 0.27625
10-72503350-C-T p.Asp657Asp synonymous ADAMTS14 8 83012 9.63716E-5 41506 0 1.9118E-4
10-72503351-G-A p.Val658Met missense ADAMTS14 4 83008 4.81881E-5 41504 0 6.37105E-5
10-72503367-A-G p.Gln663Arg missense ADAMTS14 4 82980 4.82044E-5 41490 0 1.67274E-5
10-72503369-G-A p.Val664Met missense ADAMTS14 1 82970 1.20525E-5 41485 0 1.67527E-5
10-72503373-T-C p.Val665Ala missense ADAMTS14 1 82946 1.2056E-5 41473 0 8.02304E-6
10-72503387-C-T p.Arg670Cys missense ADAMTS14 2 82812 2.41511E-5 41406 0 4.02898E-6
10-72503388-G-A p.Arg670His missense ADAMTS14 2 82808 2.41523E-5 41404 0 2.41887E-5
10-72503388-G-T p.Arg670Leu missense ADAMTS14 2 82808 2.41523E-5 41404 0 3.18674E-5
10-72503398-C-T p.Tyr673Tyr synonymous ADAMTS14 46 82664 5.5647E-4 41332 0 0.00114715
10-72503399-C-T p.Arg674Trp missense ADAMTS14 3 82654 3.62959E-5 41327 0 2.0286E-5
10-72503400-G-A p.Arg674Gln missense ADAMTS14 7 82644 8.47006E-5 41322 0 1.81758E-4
10-72503404-C-T p.Asp675Asp synonymous ADAMTS14 1 82574 1.21103E-5 41287 0 6.37227E-5
10-72503404-C-A p.Asp675Glu missense ADAMTS14 1 82574 1.21103E-5 41287 0 NA
10-72503405-C-G p.Pro676Ala missense ADAMTS14 14 82572 1.69549E-4 41286 0 3.18654E-5
10-72503408-T-C p.Tyr677His missense ADAMTS14 1 82548 1.21142E-5 41274 0 4.89069E-5
10-72503414-G-A p.Val679Ile missense ADAMTS14 4 82426 4.85284E-5 41213 0 1.59307E-4
10-72503421-C-T p.Ala681Val missense ADAMTS14 7 82212 8.51457E-5 41106 0 1.90425E-5
10-72503423-C-T p.Arg682Cys missense ADAMTS14 12 82154 1.46067E-4 41077 0 1.15265E-4
10-72503428-C-T p.Gly683Gly synonymous ADAMTS14 2 81946 2.44063E-5 40973 0 3.94563E-5
10-72503429-G-T p.Glu684* stop_gained ADAMTS14 1 81952 1.22023E-5 40976 0 NA
10-72503827-C-T p.Val688Val synonymous ADAMTS14 2 80018 2.49944E-5 40009 0 6.25E-4
10-72503828-G-T p.Gly689Cys missense ADAMTS14 3 80066 3.74691E-5 40033 0 4.63038E-5
10-72503832-G-A p.Cys690Tyr missense ADAMTS14 1 80250 1.24611E-5 40125 0 3.18593E-5
10-72503836-C-T p.Asp691Asp synonymous ADAMTS14 2 80334 2.48961E-5 40167 0 NA
10-72503847-G-T p.Gly695Val missense ADAMTS14 4 80506 4.96857E-5 40253 0 6.37389E-5
10-72503859-C-T p.Ala699Val missense ADAMTS14 5 80724 6.19394E-5 40362 0 1.71153E-5
10-72503859-C-A p.Ala699Glu missense ADAMTS14 1 80724 1.23879E-5 40362 0 NA
10-72503860-G-A p.Ala699Ala synonymous ADAMTS14 3 80756 3.71489E-5 40378 0 8.7146E-5
10-72503881-C-T p.Cys706Cys synonymous ADAMTS14 8 80798 9.90124E-5 40399 0 1.39134E-4
10-72503882-G-A p.Gly707Arg missense ADAMTS14 1 80824 1.23726E-5 40412 0 4.6408E-5
10-72503884-G-A p.Gly707Gly synonymous ADAMTS14 2 80854 2.47359E-5 40427 0 3.18593E-5
10-72503885-G-A p.Gly708Ser missense ADAMTS14 1 80842 1.23698E-5 40421 0 4.67377E-5
10-72503890-C-A p.Asp709Glu missense ADAMTS14 1 80846 1.23692E-5 40423 0 NA
10-72503890-C-G p.Asp709Glu missense ADAMTS14 1 80846 1.23692E-5 40423 0 4.80169E-5
10-72503899-C-T p.His712His synonymous ADAMTS14 7 80912 8.65137E-5 40456 0 1.00959E-4
10-72503909-G-A p.Val716Met missense ADAMTS14 2 80886 2.47262E-5 40443 0 6.23542E-6
10-72503916-G-A p.Gly718Glu missense ADAMTS14 10 80860 1.23671E-4 40430 0 5.5991E-5
10-72503919-C-T p.Thr719Met missense ADAMTS14 5 80770 6.19042E-5 40385 0 6.42112E-5
10-72503919-C-G p.Thr719Arg missense ADAMTS14 1 80770 1.23808E-5 40385 0 6.25E-4
10-72503936-A-G p.Lys725Glu missense ADAMTS14 4 80596 4.96303E-5 40298 0 NA
10-72503948-G-A c.2182+3G>A splice_region ADAMTS14 72 80378 8.95767E-4 40189 0 0.00149748
10-72503950-G-A c.2182+5G>A splice_region ADAMTS14 2 80284 2.49116E-5 40142 0 NA
10-72503952-C-T c.2182+7C>T splice_region ADAMTS14 1 80164 1.24744E-5 40082 0 3.02572E-4
10-72504994-T-C p.Leu732Pro missense ADAMTS14 2 81984 2.4395E-5 40992 0 3.18695E-5
10-72504996-G-T p.Val733Leu missense ADAMTS14 1 82062 1.21859E-5 41031 0 3.18613E-5
10-72505014-G-A p.Ala739Thr missense ADAMTS14 3 82242 3.64777E-5 41121 0 3.18654E-5
10-72505015-C-T p.Ala739Val missense ADAMTS14 1 82224 1.21619E-5 41112 0 NA
10-72505019-G-A p.Arg740Arg synonymous ADAMTS14 458 82240 0.00556907 41120 11 0.0106444
10-72505030-T-C p.Ile744Thr missense ADAMTS14 1 82276 1.21542E-5 41138 0 8.27595E-5
10-72505041-G-T p.Glu748* stop_gained ADAMTS14 1 82246 1.21586E-5 41123 0 NA
10-72505051-C-T p.Pro751Leu missense ADAMTS14 3 82136 3.65248E-5 41068 0 NA
10-72505052-C-T p.Pro751Pro synonymous ADAMTS14 2 82154 2.43445E-5 41077 0 NA
10-72505055-C-T p.His752His synonymous ADAMTS14 2 82102 2.43599E-5 41051 0 3.19407E-5
10-72505056-C-T p.Arg753Cys missense ADAMTS14 3 82070 3.65542E-5 41035 0 6.25E-4
10-72505057-G-A p.Arg753His missense ADAMTS14 4 82052 4.87496E-5 41026 0 2.0008E-4
10-72505057-G-T p.Arg753Leu missense ADAMTS14 2 82052 2.43748E-5 41026 0 3.18756E-5
10-72505060-T-C p.Ile754Thr missense+splice_region ADAMTS14 13 82016 1.58506E-4 41008 0 2.87026E-4
10-72505067-G-A c.2263+5G>A splice_region ADAMTS14 1 81912 1.22082E-5 40956 0 NA
10-72509571-C-T c.2264-7C>T splice_region ADAMTS14 9 82474 1.09125E-4 41237 0 9.56938E-5
10-72509572-G-A c.2264-6G>A splice_region ADAMTS14 2 82510 2.42395E-5 41255 0 1.91388E-4
10-72509587-A-G p.Asn758Ser missense ADAMTS14 2 82704 2.41826E-5 41352 0 3.98979E-6
10-72509595-A-G p.Thr761Ala missense ADAMTS14 2 82746 2.41704E-5 41373 0 NA
10-72509597-C-T p.Thr761Thr synonymous ADAMTS14 1 82764 1.20825E-5 41382 0 3.18979E-5
10-72509613-A-G p.Asn767Asp missense ADAMTS14 1 82870 1.20671E-5 41435 0 NA
10-72509621-G-A p.Lys769Lys synonymous ADAMTS14 1 82912 1.2061E-5 41456 0 2.49709E-5
10-72509622-G-C p.Gly770Arg missense ADAMTS14 41 82910 4.94512E-4 41455 0 7.33185E-4
10-72509630-A-G p.Glu772Glu synonymous ADAMTS14 2 82998 2.4097E-5 41499 0 5.05051E-4
10-72509631-G-A p.Ala773Thr missense ADAMTS14 2 82958 2.41086E-5 41479 0 NA
10-72509640-C-T p.Arg776Trp missense ADAMTS14 11 83084 1.32396E-4 41542 0 0.00101112
10-72509641-G-A p.Arg776Gln missense ADAMTS14 8 83102 9.62672E-5 41551 0 4.14298E-5
10-72509648-C-T p.Phe778Phe synonymous ADAMTS14 2 83134 2.40575E-5 41567 0 2.48431E-5
10-72509651-C-T p.Thr779Thr synonymous ADAMTS14 43 83160 5.17076E-4 41580 0 3.62077E-4
10-72509652-G-A p.Ala780Thr missense ADAMTS14 2 83162 2.40494E-5 41581 0 2.38736E-5
10-72509657-G-A p.Met781Ile missense ADAMTS14 1 83162 1.20247E-5 41581 0 8.27102E-6
10-72509663-G-A p.Leu783Leu synonymous ADAMTS14 1 83180 1.20221E-5 41590 0 NA
10-72509665-A-C p.Glu784Ala missense ADAMTS14 2 83172 2.40466E-5 41586 0 7.16087E-5
10-72509675-T-G p.Asp787Glu missense ADAMTS14 1 83188 1.2021E-5 41594 0 NA
10-72509677-C-T p.Ala788Val missense ADAMTS14 126 83174 0.0015149 41587 5 0.011875
10-72509678-G-A p.Ala788Ala synonymous ADAMTS14 5 83170 6.01178E-5 41585 0 9.91539E-5
10-72509679-G-A p.Val789Met missense ADAMTS14 2 83168 2.40477E-5 41584 0 3.97833E-6
10-72509689-C-A p.Ala792Asp missense ADAMTS14 1 83164 1.20244E-5 41582 0 8.26255E-6
10-72509690-C-T p.Ala792Ala synonymous ADAMTS14 1 83170 1.20236E-5 41585 0 3.97871E-6
10-72509698-G-A p.Ser795Asn missense ADAMTS14 1 83146 1.2027E-5 41573 0 3.97877E-6
10-72509700-C-T p.Leu796Phe missense ADAMTS14 1 83144 1.20273E-5 41572 0 3.30551E-5
10-72509711-C-T p.Ser799Ser synonymous ADAMTS14 2 83092 2.40697E-5 41546 0 8.26979E-6
10-72509712-G-A p.Gly800Arg missense ADAMTS14 1 83108 1.20325E-5 41554 0 3.30781E-5
10-72509714-G-A p.Gly800Gly synonymous ADAMTS14 2 83098 2.4068E-5 41549 0 NA
10-72509721-C-T p.Pro803Ser missense ADAMTS14 8 83066 9.6309E-5 41533 0 5.7925E-5
10-72509722-C-T p.Pro803Leu missense ADAMTS14 1 83078 1.20369E-5 41539 0 3.98092E-6
10-72509737-T-C p.Ile808Thr missense ADAMTS14 1 82954 1.20549E-5 41477 0 NA
10-72509739-C-T p.Leu809Leu splice_region+synonymous ADAMTS14 3 82954 3.61646E-5 41477 0 9.56511E-5
10-72511228-C-T c.2428-6C>T splice_region ADAMTS14 1924 82582 0.0232981 41291 30 0.055625
10-72511229-C-T c.2428-5C>T splice_region ADAMTS14 1 82666 1.20969E-5 41333 0 3.18532E-5
10-72511229-C-G c.2428-5C>G splice_region ADAMTS14 2 82666 2.41937E-5 41333 0 3.18532E-5
10-72511231-C-T c.2428-3C>T splice_region ADAMTS14 2 82662 2.41949E-5 41331 0 8.3149E-6
10-72511241-C-G p.Pro812Arg missense ADAMTS14 5 82732 6.04361E-5 41366 0 5.57804E-5
10-72511243-C-G p.Pro813Ala missense ADAMTS14 10 82700 1.20919E-4 41350 0 1.07589E-4
10-72511243-C-T p.Pro813Ser missense ADAMTS14 3 82700 3.62757E-5 41350 0 9.55962E-5
10-72511246-A-G p.Thr814Ala missense ADAMTS14 16 82692 1.93489E-4 41346 0 0.00100908
10-72511247-CT-C p.Glu815fs frameshift ADAMTS14 1 82698 1.20922E-5 41349 0 8.28597E-6
10-72511251-G-C p.Glu815Asp missense ADAMTS14 1 82724 1.20884E-5 41362 0 8.2802E-6
10-72511251-G-A p.Glu815Glu synonymous ADAMTS14 1 82724 1.20884E-5 41362 0 NA
10-72511254-T-G p.Gly816Gly synonymous ADAMTS14 1 82730 1.20875E-5 41365 0 8.27842E-5
10-72511258-C-T p.Pro818Ser missense ADAMTS14 1 82790 1.20788E-5 41395 0 3.18613E-5
10-72511261-C-T p.Arg819Cys missense ADAMTS14 1 82826 1.20735E-5 41413 0 1.99046E-5
10-72511262-G-A p.Arg819His missense ADAMTS14 18 82776 2.17454E-4 41388 0 3.50765E-4
10-72511264-A-G p.Ser820Gly missense ADAMTS14 1 82778 1.20805E-5 41389 0 NA
10-72511272-G-C p.Leu822Leu synonymous ADAMTS14 1 82878 1.20659E-5 41439 0 3.97893E-6
10-72511284-C-T p.Tyr826Tyr synonymous ADAMTS14 6 82914 7.23641E-5 41457 0 4.37595E-5
10-72511285-G-A p.Val827Ile missense ADAMTS14 3 82912 3.61829E-5 41456 0 2.47557E-5
10-72511285-G-T p.Val827Phe missense ADAMTS14 2 82912 2.4122E-5 41456 0 2.47557E-5
10-72511299-C-T p.Asp831Asp synonymous ADAMTS14 1 82990 1.20496E-5 41495 0 NA
10-72511305-G-T p.Leu833Leu synonymous ADAMTS14 12 83006 1.44568E-4 41503 0 6.25E-4
10-72511306-C-G p.Pro834Ala missense ADAMTS14 1 82994 1.20491E-5 41497 0 NA
10-72511306-C-T p.Pro834Ser missense ADAMTS14 1 82994 1.20491E-5 41497 0 8.24837E-6
10-72511309-C-T p.Leu835Phe missense ADAMTS14 1 83006 1.20473E-5 41503 0 NA
10-72511314-C-T p.Ile836Ile synonymous ADAMTS14 18 83004 2.16857E-4 41502 0 2.55021E-4
10-72511315-G-A p.Gly837Arg missense ADAMTS14 7 82996 8.43414E-5 41498 0 3.18715E-5
10-72511329-G-A p.Val841Val synonymous ADAMTS14 14 83048 1.68577E-4 41524 0 2.54923E-4
10-72511338-G-A p.Glu844Glu synonymous ADAMTS14 2 83060 2.4079E-5 41530 0 3.18532E-5
10-72511347-C-T p.Asp847Asp synonymous ADAMTS14 18 83050 2.16737E-4 41525 0 0.00125
10-72511361-C-T p.Ala852Val missense ADAMTS14 1 82946 1.2056E-5 41473 0 3.30327E-5
10-72511362-G-A p.Ala852Ala synonymous ADAMTS14 27 82952 3.25489E-4 41476 0 0.00100806
10-72511371-C-T p.Ser855Ser synonymous ADAMTS14 2 82892 2.41278E-5 41446 0 3.18654E-5
10-72511407-C-T c.2596+5C>T splice_region ADAMTS14 1 82030 1.21907E-5 41015 0 3.22643E-5
10-72511408-G-A c.2596+6G>A splice_region ADAMTS14 22 82156 2.67783E-4 41078 0 5.64039E-5
10-72511843-C-T c.2597-8C>T splice_region ADAMTS14 1 80624 1.24033E-5 40312 0 NA
10-72511870-C-T p.Tyr872Tyr synonymous ADAMTS14 8 81374 9.83115E-5 40687 0 0.0015121
10-72511870-C-A p.Tyr872* stop_gained ADAMTS14 2 81374 2.45779E-5 40687 0 8.67273E-6
10-72511871-G-A p.Gly873Ser missense ADAMTS14 5 81414 6.14145E-5 40707 0 1.59439E-4
10-72511876-C-T p.Cys874Cys synonymous ADAMTS14 1 81300 1.23001E-5 40650 0 NA
10-72511878-G-A p.Arg875Gln missense ADAMTS14 10 81380 1.2288E-4 40690 0 6.37796E-5
10-72511879-G-A p.Arg875Arg synonymous ADAMTS14 2 81398 2.45706E-5 40699 0 8.03419E-6
10-72511880-C-T p.Arg876Cys missense ADAMTS14 139 81294 0.00170984 40647 1 8.88442E-4
10-72511881-G-A p.Arg876His missense ADAMTS14 27 81344 3.31924E-4 40672 0 2.23143E-4
10-72511882-C-T p.Arg876Arg synonymous ADAMTS14 1 81408 1.22838E-5 40704 0 NA
10-72511886-C-G p.Arg878Gly missense ADAMTS14 1 81514 1.22678E-5 40757 0 4.00718E-6
10-72511886-C-A p.Arg878Arg synonymous ADAMTS14 1 81514 1.22678E-5 40757 0 NA
10-72511892-C-T p.His880Tyr missense ADAMTS14 1 81732 1.22351E-5 40866 0 NA
10-72511901-G-A p.Val883Met missense ADAMTS14 18 81872 2.19855E-4 40936 0 0.00100705
10-72511907-C-T p.Arg885* stop_gained ADAMTS14 2 81930 2.44111E-5 40965 0 3.18796E-5
10-72511946-C-T p.Arg898Cys missense ADAMTS14 8 82044 9.75087E-5 41022 0 5.03525E-4
10-72511947-G-A p.Arg898His missense ADAMTS14 13 81996 1.58544E-4 40998 0 4.18641E-5
10-72511949-C-T p.Arg899Trp missense ADAMTS14 7 82002 8.53638E-5 41001 0 3.18654E-5
10-72511950-G-A p.Arg899Gln missense ADAMTS14 1 81926 1.22061E-5 40963 0 3.18695E-5
10-72511952-C-T p.Arg900Cys missense ADAMTS14 2 81904 2.44188E-5 40952 0 6.37227E-5
10-72511953-G-A p.Arg900His missense ADAMTS14 2 81864 2.44308E-5 40932 0 3.18735E-5
10-72511959-A-G p.Asn902Ser missense ADAMTS14 2 81754 2.44636E-5 40877 0 3.59373E-5
10-72511963-G-T p.Gln903His missense ADAMTS14 1 81640 1.22489E-5 40820 0 3.99415E-6
10-72511968-C-T p.Pro905Leu missense ADAMTS14 8 81498 9.81619E-5 40749 0 7.59399E-5
10-72511969-G-A p.Pro905Pro synonymous ADAMTS14 3 81436 3.68387E-5 40718 0 2.39814E-5
10-72511976-C-T p.Gln908* stop_gained ADAMTS14 1 81276 1.23038E-5 40638 0 NA
10-72511991-C-T c.2729+8C>T splice_region ADAMTS14 3 80568 3.72356E-5 40284 0 9.55657E-5
10-72513548-G-A c.2730-8G>A splice_region ADAMTS14 1 79562 1.25688E-5 39781 0 5.47345E-5
10-72513553-C-T c.2730-3C>T splice_region ADAMTS14 1 79772 1.25357E-5 39886 0 NA
10-72513556-G-A p.Val910Val splice_region+synonymous ADAMTS14 2 79928 2.50225E-5 39964 0 4.4342E-5
10-72513564-C-T p.Thr913Met missense ADAMTS14 4 80204 4.98728E-5 40102 0 1.27397E-4
10-72513565-G-A p.Thr913Thr synonymous ADAMTS14 7 80282 8.71926E-5 40141 0 6.25E-4
10-72513576-G-A p.Gly917Asp missense ADAMTS14 8 80598 9.9258E-5 40299 0 2.86697E-4
10-72513576-G-T p.Gly917Val missense ADAMTS14 1 80598 1.24073E-5 40299 0 NA
10-72513577-T-A p.Gly917Gly synonymous ADAMTS14 7 80578 8.68723E-5 40289 0 8.14607E-4
10-72513587-C-T p.Arg921Trp missense ADAMTS14 4 80848 4.94756E-5 40424 0 3.18613E-5
10-72513588-G-A p.Arg921Gln missense ADAMTS14 1 80856 1.23677E-5 40428 0 7.35763E-5
10-72513593-T-G p.Cys923Gly missense ADAMTS14 2 80908 2.47194E-5 40454 0 2.33296E-5
10-72513604-G-C p.Leu926Leu synonymous ADAMTS14 1 80992 1.23469E-5 40496 0 NA
10-72513607-G-A p.Gly927Gly synonymous ADAMTS14 1 80994 1.23466E-5 40497 0 NA
10-72513608-G-C p.Val928Leu missense ADAMTS14 1 80990 1.23472E-5 40495 0 NA
10-72513617-C-T p.Arg931Trp missense ADAMTS14 4 81024 4.93681E-5 40512 0 4.22404E-5
10-72513617-CG-C p.Ile933fs frameshift ADAMTS14 1 81024 1.2342E-5 40512 0 4.68841E-6
10-72513618-G-A p.Arg931Gln missense ADAMTS14 1 81036 1.23402E-5 40518 0 4.22976E-5
10-72513626-C-T p.Gln934* stop_gained ADAMTS14 2 80988 2.4695E-5 40494 0 NA
10-72513635-C-A p.Leu937Met missense ADAMTS14 17340 80466 0.215495 40233 2066 0.310983
10-72513641-C-A p.Leu939Ile missense ADAMTS14 2 81026 2.46834E-5 40513 0 3.6515E-5
10-72513648-A-G p.Asn941Ser missense ADAMTS14 95 80968 0.0011733 40484 0 0.0025
10-72513649-T-G p.Asn941Lys missense ADAMTS14 1 80976 1.23493E-5 40488 0 3.18756E-5
10-72513661-G-A p.Lys945Lys synonymous ADAMTS14 2 80890 2.47249E-5 40445 0 1.85549E-5
10-72513661-G-T p.Lys945Asn missense ADAMTS14 1 80890 1.23625E-5 40445 0 NA
10-72513664-C-T p.Val946Val synonymous ADAMTS14 1 80828 1.2372E-5 40414 0 6.25E-4
10-72513669-C-T p.Pro948Leu missense ADAMTS14 27 80682 3.34647E-4 40341 1 0.00254065
10-72513670-G-A p.Pro948Pro synonymous ADAMTS14 1 80662 1.23974E-5 40331 0 0.00101729
10-72513676-AGCCTGCGCCGGGGACCG-A p.Cys952fs frameshift ADAMTS14 1 80564 1.24125E-5 40282 0 NA
10-72513682-C-T p.Cys952Cys synonymous ADAMTS14 43793 78894 0.555087 39447 12323 0.612818
10-72513684-C-T p.Ala953Val missense ADAMTS14 1 80148 1.24769E-5 40074 0 NA
10-72513685-C-T p.Ala953Ala synonymous ADAMTS14 9 80064 1.1241E-4 40032 0 0.00152439
10-72513686-G-A p.Gly954Arg missense ADAMTS14 2 80018 2.49944E-5 40009 0 2.26922E-5
10-72513689-G-T p.Asp955Tyr missense ADAMTS14 7 79872 8.76402E-5 39936 0 6.96541E-5
10-72513692-C-T p.Arg956Trp missense ADAMTS14 3 79526 3.77235E-5 39763 0 3.00508E-5
10-72513693-G-A p.Arg956Gln missense ADAMTS14 2 79390 2.51921E-5 39695 0 2.4057E-5
10-72513697-TGAGGCCCGACGGCCCTGTCTCC-T p.Ala959fs frameshift ADAMTS14 1 79282 1.26132E-5 39641 0 1.00347E-5
10-72513704-C-T p.Arg960* stop_gained ADAMTS14 1 78718 1.27036E-5 39359 0 2.70988E-5
10-72513705-G-C p.Arg960Pro missense ADAMTS14 1 78588 1.27246E-5 39294 0 5.1488E-6
10-72513708-G-A p.Arg961Gln missense ADAMTS14 7 78248 8.94592E-5 39124 0 0.00204499
10-72513719-C-T p.Arg965* stop_gained ADAMTS14 2 77260 2.58866E-5 38630 0 3.06598E-5
10-72513720-G-A p.Arg965Gln missense ADAMTS14 2 77070 2.59504E-5 38535 0 6.20194E-5
10-72513730-C-A p.Cys968* stop_gained ADAMTS14 1 75830 1.31874E-5 37915 0 NA
10-72513731-C-A p.Pro969Thr missense ADAMTS14 1 75764 1.31989E-5 37882 0 NA
10-72513734-GC-G p.Gln971fs frameshift ADAMTS14 1 75354 1.32707E-5 37677 0 NA
10-72513739-G-C p.Gln971His missense ADAMTS14 1 74704 1.33862E-5 37352 0 NA
10-72513747-TG-T p.Gly975fs frameshift ADAMTS14 1 73096 1.36806E-5 36548 0 NA
10-72517712-C-T c.2938-6C>T splice_region ADAMTS14 3 81518 3.68017E-5 40759 0 1.32432E-4
10-72517713-G-C c.2938-5G>C splice_region ADAMTS14 1 81550 1.22624E-5 40775 0 8.91472E-6
10-72517714-G-A c.2938-4G>A splice_region ADAMTS14 1 81626 1.2251E-5 40813 0 8.90726E-6
10-72517751-C-T p.Arg991Trp missense ADAMTS14 2 82306 2.42996E-5 41153 0 3.20922E-5
10-72517751-CG-C p.Gln992fs frameshift ADAMTS14 1 82306 1.21498E-5 41153 0 NA
10-72517752-G-A p.Arg991Gln missense ADAMTS14 6 82324 7.28828E-5 41162 0 2.55611E-4
10-72517756-G-T p.Gln992His missense ADAMTS14 4 82390 4.85496E-5 41195 0 1.20015E-5
10-72517763-T-C p.Cys995Arg missense ADAMTS14 22 82282 2.67373E-4 41141 0 2.54988E-4
10-72517771-C-T p.Thr997Thr synonymous ADAMTS14 2 82362 2.4283E-5 41181 0 NA
10-72517774-C-T p.Asn998Asn synonymous ADAMTS14 11 82376 1.33534E-4 41188 0 0.0025
10-72517786-C-T p.Leu1002Leu synonymous ADAMTS14 2 82480 2.42483E-5 41240 0 3.18552E-5
10-72517787-G-A p.Gly1003Arg missense ADAMTS14 2 82528 2.42342E-5 41264 0 3.18573E-5
10-72517795-C-T p.Cys1005Cys synonymous ADAMTS14 1 82496 1.21218E-5 41248 0 8.38898E-6
10-72517796-G-A p.Glu1006Lys missense ADAMTS14 42 82558 5.08733E-4 41279 0 7.21126E-4
10-72517797-A-AG p.Asp1008fs frameshift ADAMTS14 1 82528 1.21171E-5 41264 0 NA
10-72517807-G-A p.Arg1009Arg synonymous ADAMTS14 3 82590 3.6324E-5 41295 0 5.04032E-4
10-72517814-A-C p.Thr1012Pro missense ADAMTS14 1 82694 1.20928E-5 41347 0 3.99898E-6
10-72517830-G-A p.Ser1017Asn missense ADAMTS14 13660 82288 0.166002 41144 1215 0.19532
10-72517831-C-A p.Ser1017Arg missense ADAMTS14 1 82806 1.20764E-5 41403 0 8.04648E-6
10-72517837-C-T p.Pro1019Pro synonymous ADAMTS14 47074 81756 0.575786 40878 13629 0.619375
10-72517846-A-C p.Gly1022Gly splice_region+synonymous ADAMTS14 1 82942 1.20566E-5 41471 0 8.04285E-6
10-72517943-A-T p.Asn1027Ile missense ADAMTS14 2 83242 2.40263E-5 41621 0 NA
10-72517949-C-T p.Thr1029Met missense ADAMTS14 2 83268 2.40188E-5 41634 0 8.26569E-6
10-72517950-G-C p.Thr1029Thr synonymous ADAMTS14 9 83274 1.08077E-4 41637 0 1.27356E-4
10-72517950-G-A p.Thr1029Thr synonymous ADAMTS14 4 83272 4.80354E-5 41636 0 3.97912E-5
10-72517957-G-A p.Ala1032Thr missense ADAMTS14 1 83270 1.20091E-5 41635 0 NA
10-72517959-C-T p.Ala1032Ala synonymous ADAMTS14 105 83282 0.00126078 41641 0 7.43249E-4
10-72517960-G-A p.Asp1033Asn missense ADAMTS14 2 83290 2.40125E-5 41645 0 5.17219E-5
10-72517965-C-T p.Val1034Val synonymous ADAMTS14 1 83296 1.20054E-5 41648 0 3.18431E-5
10-72517979-C-T p.Thr1039Met missense ADAMTS14 3 83298 3.60153E-5 41649 0 6.25E-4
10-72517980-G-T p.Thr1039Thr synonymous ADAMTS14 1 83296 1.20054E-5 41648 0 6.3678E-5
10-72517980-G-A p.Thr1039Thr synonymous ADAMTS14 1 83294 1.20057E-5 41647 0 9.07875E-5
10-72517992-G-A p.Gln1043Gln synonymous ADAMTS14 1 83282 1.20074E-5 41641 0 3.18451E-5
10-72518002-C-T p.Gln1047* stop_gained ADAMTS14 1 83290 1.20062E-5 41645 0 NA
10-72518004-A-G p.Gln1047Gln synonymous ADAMTS14 1 83292 1.2006E-5 41646 0 3.97817E-6
10-72518009-A-G p.Glu1049Gly missense ADAMTS14 13755 82712 0.1663 41356 1147 0.199056
10-72518010-A-C p.Glu1049Asp missense ADAMTS14 1 83276 1.20083E-5 41638 0 NA
10-72518012-C-T p.Pro1050Leu missense ADAMTS14 29 83280 3.48223E-4 41640 0 3.18552E-4
10-72518022-C-T p.Pro1053Pro synonymous ADAMTS14 2 83242 2.40263E-5 41621 0 5.03525E-4
10-72518027-A-C p.Asn1055Thr missense ADAMTS14 1 83212 1.20175E-5 41606 0 1.593E-5
10-72520116-C-T p.Thr1060Met missense+splice_region ADAMTS14 1 79440 1.25881E-5 39720 0 1.00825E-4
10-72520117-G-A p.Thr1060Thr splice_region+synonymous ADAMTS14 8 79514 1.00611E-4 39757 0 5.14933E-4
10-72520128-C-T p.Thr1064Met missense ADAMTS14 3 79786 3.76006E-5 39893 0 8.5111E-5
10-72520129-G-A p.Thr1064Thr synonymous ADAMTS14 2 79806 2.50608E-5 39903 0 6.25E-4
10-72520130-G-A p.Gly1065Arg missense ADAMTS14 1 79842 1.25247E-5 39921 0 9.56999E-5
10-72520134-A-T p.Asp1066Val missense ADAMTS14 1 79918 1.25128E-5 39959 0 3.19387E-5
10-72520140-CTG-C p.Val1069fs frameshift ADAMTS14 2 80042 2.49869E-5 40021 0 NA
10-72520141-T-C p.Ser1068Ser synonymous ADAMTS14 1 80064 1.249E-5 40032 0 8.51477E-6
10-72520151-C-T p.Gln1072* stop_gained ADAMTS14 2 80182 2.49433E-5 40091 0 NA
10-72520157-G-A p.Glu1074Lys missense ADAMTS14 1 80320 1.24502E-5 40160 0 1.23962E-4
10-72520161-T-C p.Val1075Ala missense ADAMTS14 2 80408 2.48731E-5 40204 0 6.25E-4
10-72520165-C-T p.Leu1076Leu synonymous ADAMTS14 3 80620 3.72116E-5 40310 0 4.10317E-6
10-72520165-C-G p.Leu1076Leu synonymous ADAMTS14 1 80620 1.24039E-5 40310 0 3.19163E-5
10-72520166-G-A p.Asp1077Asn missense ADAMTS14 2 80688 2.47868E-5 40344 0 4.09293E-5
10-72520169-C-T p.Arg1078Cys missense ADAMTS14 3 80796 3.71306E-5 40398 0 6.38162E-5
10-72520170-G-T p.Arg1078Leu missense ADAMTS14 1 80844 1.23695E-5 40422 0 NA
10-72520179-C-T p.Ser1081Phe missense ADAMTS14 2 81242 2.46178E-5 40621 0 NA
10-72520186-C-T p.Pro1083Pro synonymous ADAMTS14 4 81344 4.91739E-5 40672 0 5.89126E-5
10-72520187-G-A p.Gly1084Ser missense ADAMTS14 5 81338 6.14719E-5 40669 0 6.25E-4
10-72520196-C-T p.Arg1087Trp missense ADAMTS14 5 81576 6.12925E-5 40788 0 3.6302E-5
10-72520197-G-A p.Arg1087Gln missense ADAMTS14 1 81556 1.22615E-5 40778 0 3.333E-5
10-72520201-C-T p.Leu1088Leu synonymous ADAMTS14 1 81786 1.2227E-5 40893 0 NA
10-72520208-G-C p.Val1091Leu missense ADAMTS14 2 82002 2.43896E-5 41001 0 NA
10-72520210-G-A p.Val1091Val synonymous ADAMTS14 2 82004 2.43891E-5 41002 0 NA
10-72520212-C-T p.Ser1092Phe missense ADAMTS14 1 82056 1.21868E-5 41028 0 NA
10-72520218-T-C p.Ile1094Thr missense ADAMTS14 1 82138 1.21746E-5 41069 0 NA
10-72520225-G-C p.Lys1096Asn missense ADAMTS14 1 82280 1.21536E-5 41140 0 NA
10-72520230-C-T p.Ser1098Leu missense ADAMTS14 6 82234 7.29625E-5 41117 0 1.595E-4
10-72520231-G-A p.Ser1098Ser synonymous ADAMTS14 4 82156 4.86879E-5 41078 0 5.80826E-5
10-72520232-G-A p.Gly1099Ser missense ADAMTS14 1 82152 1.21726E-5 41076 0 NA
10-72520234-C-T p.Gly1099Gly synonymous ADAMTS14 1 82164 1.21708E-5 41082 0 8.29352E-6
10-72520252-CCC-TCT p.AspPro1105AspLeu missense ADAMTS14 1 82190 1.21669E-5 41095 0 NA
10-72520254-C-T p.Pro1106Leu missense ADAMTS14 5675 81970 0.0692326 40985 258 0.0760322
10-72520259-C-T p.Pro1108Ser missense ADAMTS14 6754 81890 0.0824765 40945 305 0.092145
10-72520266-C-T p.Ser1110Leu missense ADAMTS14 23 82134 2.8003E-4 41067 0 5.03525E-4
10-72520269-T-C p.Leu1111Pro missense ADAMTS14 2 82060 2.43724E-5 41030 0 3.19101E-5
10-72520274-C-T p.Pro1113Ser missense ADAMTS14 6 82080 7.30994E-5 41040 0 4.14326E-5
10-72520281-C-T p.Ser1115Phe missense ADAMTS14 2 82074 2.43683E-5 41037 0 3.31565E-5
10-72520292-A-G p.Ser1119Gly missense ADAMTS14 2 82018 2.43849E-5 41009 0 3.19E-5
10-72520297-C-T p.Pro1120Pro synonymous ADAMTS14 95 82020 0.00115825 41010 2 0.00264685
10-72520300-A-T p.Leu1121Phe missense ADAMTS14 2 81962 2.44016E-5 40981 0 NA
10-72520305-G-C p.Gly1123Ala missense ADAMTS14 4 81936 4.88186E-5 40968 0 9.57243E-5
10-72520306-A-T p.Gly1123Gly synonymous ADAMTS14 1 81918 1.22073E-5 40959 0 NA
10-72520323-A-T p.Asp1129Val missense ADAMTS14 1 82114 1.21782E-5 41057 0 NA
10-72520328-G-T p.Ala1131Ser missense ADAMTS14 1 82100 1.21803E-5 41050 0 NA
10-72520329-CA-TG p.Ala1131Val missense ADAMTS14 2 82106 2.43588E-5 41053 0 NA
10-72520330-A-G p.Ala1131Ala synonymous ADAMTS14 28214 80908 0.348717 40454 4926 0.419375
10-72520330-A-T p.Ala1131Ala synonymous ADAMTS14 10 82138 1.21746E-4 41069 1 6.69376E-4
10-72520335-C-G p.Pro1133Arg missense ADAMTS14 3 82236 3.64804E-5 41118 0 3.18817E-5
10-72520349-A-G p.Thr1138Ala missense ADAMTS14 1 82430 1.21315E-5 41215 0 NA
10-72520350-C-T p.Thr1138Met missense ADAMTS14 2 82424 2.42648E-5 41212 0 3.19463E-5
10-72520366-T-C p.His1143His synonymous ADAMTS14 2 82698 2.41844E-5 41349 0 NA
10-72520374-G-A p.Gly1146Asp missense ADAMTS14 1 82736 1.20866E-5 41368 0 3.98514E-6
10-72520376-C-T p.Arg1147* stop_gained ADAMTS14 2 82772 2.41628E-5 41386 0 9.56877E-5
10-72520377-G-A p.Arg1147Gln missense ADAMTS14 1 82794 1.20782E-5 41397 0 7.432E-5
10-72520387-G-A p.Gln1150Gln synonymous ADAMTS14 17 82888 2.05096E-4 41444 0 9.56328E-5
10-72520390-C-T p.Leu1151Leu synonymous ADAMTS14 12 82914 1.44728E-4 41457 0 1.35362E-4
10-72520393-A-T p.Pro1152Pro synonymous ADAMTS14 1 82948 1.20557E-5 41474 0 NA
10-72520395-G-A p.Gly1153Glu missense ADAMTS14 1 82936 1.20575E-5 41468 0 NA
10-72520401-T-C p.Leu1155Pro missense ADAMTS14 3 82964 3.61603E-5 41482 0 NA
10-72520411-C-T p.Ser1158Ser synonymous ADAMTS14 1 82996 1.20488E-5 41498 0 1.15573E-4
10-72520414-C-T p.Ser1159Ser synonymous ADAMTS14 82 83022 9.8769E-4 41511 1 0.0151057
10-72520420-G-C p.Gly1161Gly synonymous ADAMTS14 1 83042 1.20421E-5 41521 0 3.97947E-6
10-72520424-C-A p.Gln1163Lys missense ADAMTS14 2 83046 2.4083E-5 41523 0 NA
10-72520427-C-G p.His1164Asp missense ADAMTS14 3 83042 3.61263E-5 41521 0 4.12759E-5
10-72520430-C-T p.Pro1165Ser missense ADAMTS14 1 83046 1.20415E-5 41523 0 3.30218E-5
10-72520438-C-A p.Ala1167Ala synonymous ADAMTS14 17 83016 2.0478E-4 41508 0 9.55962E-5
10-72520449-C-T p.Pro1171Leu missense ADAMTS14 1 82998 1.20485E-5 41499 0 1.65147E-5
10-72520453-CCCTGGAGCAT-C p.Trp1177fs frameshift ADAMTS14 2 83010 2.40935E-5 41505 0 8.25791E-6
10-72520455-C-G p.Pro1173Arg missense ADAMTS14 1 82998 1.20485E-5 41499 0 3.98099E-6
10-72520456-TGGAGCATCCTGGAGCATCTCCCCTACCACCCCCG-T p.Ala1175fs frameshift ADAMTS14 1 82984 1.20505E-5 41492 0 NA
10-72520457-G-A p.Gly1174Arg missense ADAMTS14 101 82968 0.00121734 41484 0 0.00213485
10-72520465-C-G p.Ser1176Ser synonymous ADAMTS14 1 82946 1.2056E-5 41473 0 NA
10-72520473-T-A p.Ile1179Asn missense ADAMTS14 6 82870 7.24026E-5 41435 0 4.95892E-5
10-72520477-C-G p.Ser1180Ser synonymous ADAMTS14 2 82874 2.4133E-5 41437 0 6.25E-4
10-72520485-C-A p.Thr1183Asn missense ADAMTS14 1 82814 1.20753E-5 41407 0 3.18634E-5
10-72520487-C-T p.Pro1184Ser missense ADAMTS14 1 82800 1.20773E-5 41400 0 7.96743E-6
10-72520487-C-G p.Pro1184Ala missense ADAMTS14 1 82800 1.20773E-5 41400 0 NA
10-72520489-C-T p.Pro1184Pro synonymous ADAMTS14 233 82764 0.00281523 41382 1 0.00625
10-72520490-G-C p.Gly1185Arg missense ADAMTS14 2 82748 2.41698E-5 41374 0 NA
10-72520490-G-A p.Gly1185Arg missense ADAMTS14 3 82748 3.62547E-5 41374 0 6.37267E-5
10-72520493-G-A p.Gly1186Arg missense ADAMTS14 1 82724 1.20884E-5 41362 0 NA
10-72520518-C-T p.Thr1194Ile missense ADAMTS14 1 82450 1.21286E-5 41225 0 NA
10-72520520-C-T p.Pro1195Ser missense ADAMTS14 1 82442 1.21297E-5 41221 0 NA
10-72520524-C-T p.Thr1196Met missense ADAMTS14 2 82382 2.42771E-5 41191 0 6.6788E-5
10-72520525-G-A p.Thr1196Thr synonymous ADAMTS14 269 82324 0.00326758 41162 0 0.00375
10-72520526-C-T p.Pro1197Ser missense ADAMTS14 1 82348 1.21436E-5 41174 0 3.18634E-5
10-72520545-G-A p.Gly1203Glu missense ADAMTS14 1 82250 1.21581E-5 41125 0 4.03161E-6
10-72520553-G-A p.Gly1206Arg missense ADAMTS14 50 82134 6.08761E-4 41067 0 9.87953E-4
10-72520567-A-G p.Arg1210Arg synonymous ADAMTS14 19149 80836 0.236887 40418 2228 0.27875
10-72520573-C-T p.Pro1212Pro synonymous ADAMTS14 4 81876 4.88544E-5 40938 0 9.56328E-5
10-72520574-G-A p.Gly1213Ser missense ADAMTS14 1 81862 1.22157E-5 40931 0 3.18756E-5
10-72520585-C-T p.Leu1216Leu synonymous ADAMTS14 1 81808 1.22237E-5 40904 0 2.19412E-5
10-72520599-C-T p.Pro1221Leu missense ADAMTS14 63 81696 7.71152E-4 40848 1 0.00302115
10-72520600-G-A p.Pro1221Pro synonymous ADAMTS14 1 81664 1.22453E-5 40832 0 2.74801E-5