Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-64751503-C-T c.-276C>T 5_prime_UTR_premature_start_codon_gain AFTPH 2 38278 5.22493E-5 19139 0 6.38529E-5
2-64751559-A-T c.-220A>T 5_prime_UTR_premature_start_codon_gain AFTPH 1 42750 2.33918E-5 21375 0 NA
2-64751601-A-C c.-178A>C 5_prime_UTR_premature_start_codon_gain AFTPH 46 42872 0.00107296 21436 0 5.74163E-4
2-64751601-A-T c.-178A>T 5_prime_UTR_premature_start_codon_gain AFTPH 1 42874 2.33242E-5 21437 0 NA
2-64751615-C-T c.-164C>T 5_prime_UTR_premature_start_codon_gain AFTPH 1 42734 2.34006E-5 21367 0 NA
2-64751724-C-T c.-55C>T 5_prime_UTR_premature_start_codon_gain AFTPH 2 41968 4.76554E-5 20984 0 9.57793E-5
2-64751730-C-T c.-49C>T 5_prime_UTR_premature_start_codon_gain AFTPH 1 41896 2.38686E-5 20948 0 NA
2-64751735-C-T c.-44C>T 5_prime_UTR_premature_start_codon_gain AFTPH 11 41888 2.62605E-4 20944 0 2.23514E-4
2-64751753-G-T c.-33+7G>T splice_region AFTPH 9 41660 2.16035E-4 20830 0 3.19224E-4
2-64778579-G-A c.-30G>A splice_region AFTPH 13 83154 1.56336E-4 41577 0 3.19081E-4
2-64778623-C-T p.Ile5Ile synonymous AFTPH 1 83252 1.20117E-5 41626 0 8.33E-6
2-64778640-C-T p.Ser11Leu missense AFTPH 2 83252 2.40234E-5 41626 0 NA
2-64778661-A-G p.Asn18Ser missense AFTPH 5 83270 6.00456E-5 41635 0 2.48698E-5
2-64778662-T-C p.Asn18Asn synonymous AFTPH 1443 83256 0.0173321 41628 16 0.0166975
2-64778667-C-G p.Ala20Gly missense AFTPH 4 83272 4.80354E-5 41636 0 2.48641E-5
2-64778668-A-G p.Ala20Ala synonymous AFTPH 1 83274 1.20085E-5 41637 0 NA
2-64778669-G-C p.Glu21Gln missense AFTPH 1 83270 1.20091E-5 41635 0 NA
2-64778681-G-A p.Asp25Asn missense AFTPH 4 83268 4.80377E-5 41634 0 6.36943E-5
2-64778687-G-C p.Glu27Gln missense AFTPH 1 83276 1.20083E-5 41638 0 3.18471E-5
2-64778713-A-C p.Ser35Ser synonymous AFTPH 14 83282 1.68104E-4 41641 0 4.77399E-5
2-64778730-G-A p.Gly41Asp missense AFTPH 93 83280 0.00111671 41640 0 0.00140178
2-64778732-G-A p.Val42Ile missense AFTPH 29 83284 3.48206E-4 41642 0 1.27397E-4
2-64778743-T-C p.Val45Val synonymous AFTPH 1 83302 1.20045E-5 41651 0 NA
2-64778749-C-A p.Phe47Leu missense AFTPH 92 83304 0.00110439 41652 0 0.00453172
2-64778750-G-T p.Asp48Tyr missense AFTPH 1 83302 1.20045E-5 41651 0 NA
2-64778750-G-A p.Asp48Asn missense AFTPH 1 83302 1.20045E-5 41651 0 2.47215E-5
2-64778754-C-T p.Thr49Ile missense AFTPH 1 83300 1.20048E-5 41650 0 2.47186E-5
2-64778768-C-T p.Arg54Cys missense AFTPH 2 83294 2.40113E-5 41647 0 1.19326E-5
2-64778769-G-A p.Arg54His missense AFTPH 6 83288 7.20392E-5 41644 0 4.11916E-5
2-64778797-C-A p.Asn63Lys missense AFTPH 2 83270 2.40183E-5 41635 0 8.23873E-6
2-64778799-A-G p.His64Arg missense AFTPH 37 83264 4.4437E-4 41632 0 2.86462E-4
2-64778813-C-A p.His69Asn missense AFTPH 2 83250 2.4024E-5 41625 0 NA
2-64778813-C-T p.His69Tyr missense AFTPH 1 83250 1.2012E-5 41625 0 NA
2-64778832-T-C p.Val75Ala missense AFTPH 1 83230 1.20149E-5 41615 0 NA
2-64778835-A-G p.Asp76Gly missense AFTPH 5 83224 6.00788E-5 41612 0 3.18451E-5
2-64778840-C-G p.Leu78Val missense AFTPH 1 83212 1.20175E-5 41606 0 6.36902E-5
2-64778847-G-A p.Ser80Asn missense AFTPH 24 83192 2.88489E-4 41596 0 0.00352467
2-64778858-A-T p.Ile84Phe missense AFTPH 3 83188 3.60629E-5 41594 0 3.18329E-5
2-64778867-G-T p.Gly87Cys missense AFTPH 3 83190 3.6062E-5 41595 0 4.12426E-5
2-64778871-A-G p.Asn88Ser missense AFTPH 1 83176 1.20227E-5 41588 0 NA
2-64778872-T-C p.Asn88Asn synonymous AFTPH 1 83176 1.20227E-5 41588 0 8.24851E-6
2-64778874-A-T p.Asp89Val missense AFTPH 1 83174 1.2023E-5 41587 0 6.36699E-5
2-64778879-G-A p.Asp91Asn missense AFTPH 2 83178 2.40448E-5 41589 0 3.18492E-5
2-64778895-T-G p.Leu96Arg missense AFTPH 1 83164 1.20244E-5 41582 0 NA
2-64778900-G-A p.Ala98Thr missense AFTPH 1 83164 1.20244E-5 41582 0 8.26528E-6
2-64778902-T-C p.Ala98Ala synonymous AFTPH 2 83160 2.405E-5 41580 0 NA
2-64778916-A-G p.Gln103Arg missense AFTPH 4 83140 4.81116E-5 41570 0 3.1839E-5
2-64778941-C-A p.Thr111Thr synonymous AFTPH 11 83020 1.32498E-4 41510 0 1.27372E-4
2-64778949-A-C p.Glu114Ala missense AFTPH 1 83022 1.2045E-5 41511 0 NA
2-64778952-T-C p.Ile115Thr missense AFTPH 1 83010 1.20467E-5 41505 0 NA
2-64778986-T-C p.Asp126Asp synonymous AFTPH 229 82900 0.00276236 41450 1 0.00553877
2-64778990-A-G p.Met128Val missense AFTPH 5 82886 6.03238E-5 41443 0 5.19584E-5
2-64779019-A-G p.Val137Val synonymous AFTPH 1 83014 1.20462E-5 41507 0 5.03525E-4
2-64779050-G-C p.Glu148Gln missense AFTPH 1 83120 1.20308E-5 41560 0 3.99176E-6
2-64779087-ATGT-A p.Val162del conservative_inframe_deletion AFTPH 6 83086 7.22143E-5 41543 0 5.03525E-4
2-64779121-C-G p.Cys171Trp missense AFTPH 1 82716 1.20896E-5 41358 0 3.99262E-6
2-64779128-G-A p.Glu174Lys missense AFTPH 1 82602 1.21062E-5 41301 0 9.95586E-5
2-64779150-T-G p.Ile181Ser missense AFTPH 24 82202 2.91964E-4 41101 0 2.54696E-4
2-64779151-T-G p.Ile181Met missense AFTPH 1 82158 1.21717E-5 41079 0 NA
2-64779151-T-A p.Ile181Ile synonymous AFTPH 1 82158 1.21717E-5 41079 0 NA
2-64779154-A-C p.Leu182Leu synonymous AFTPH 4 82070 4.87389E-5 41035 0 6.36862E-5
2-64779163-G-A p.Gly185Gly synonymous AFTPH 2 81706 2.4478E-5 40853 0 6.36902E-5
2-64779164-T-C p.Phe186Leu missense AFTPH 1 81652 1.22471E-5 40826 0 8.29724E-6
2-64779192-A-G p.Gln195Arg missense AFTPH 1 81316 1.22977E-5 40658 0 1.41074E-4
2-64779195-G-A p.Gly196Glu missense AFTPH 231 81324 0.00284049 40662 1 0.00595503
2-64779197-A-G p.Thr197Ala missense AFTPH 1 81416 1.22826E-5 40708 0 NA
2-64779198-C-T p.Thr197Ile missense AFTPH 2 81438 2.45586E-5 40719 1 NA
2-64779200-G-A p.Asp198Asn missense AFTPH 1 81524 1.22663E-5 40762 0 NA
2-64779210-A-T p.Asp201Val missense AFTPH 2 81808 2.44475E-5 40904 0 NA
2-64779233-C-T p.Arg209Trp missense AFTPH 1 82350 1.21433E-5 41175 0 5.03525E-4
2-64779234-G-A p.Arg209Gln missense AFTPH 3 82402 3.64069E-5 41201 0 4.14724E-5
2-64779234-G-T p.Arg209Leu missense AFTPH 1 82402 1.21356E-5 41201 0 NA
2-64779243-TTAGCACTCA-T p.His215_Thr217del conservative_inframe_deletion AFTPH 2 82586 2.42172E-5 41293 0 3.18512E-5
2-64779245-A-G p.Ser213Gly missense AFTPH 8 82606 9.68453E-5 41303 0 3.19096E-5
2-64779249-C-T p.Thr214Ile missense AFTPH 2 82670 2.41926E-5 41335 0 1.65829E-5
2-64779253-T-C p.His215His synonymous AFTPH 1 82710 1.20904E-5 41355 0 3.18573E-5
2-64779256-C-G p.Ser216Arg missense AFTPH 8 82726 9.67048E-5 41363 0 2.73555E-4
2-64779267-A-G p.Asn220Ser missense AFTPH 8 82896 9.65065E-5 41448 0 5.03525E-4
2-64779274-C-T p.Asp222Asp synonymous AFTPH 1 82980 1.20511E-5 41490 0 NA
2-64779278-G-C p.Val224Leu missense AFTPH 1 83002 1.20479E-5 41501 0 NA
2-64779284-A-C p.Ser226Arg missense AFTPH 1 83026 1.20444E-5 41513 0 NA
2-64779285-G-A p.Ser226Asn missense AFTPH 60 83032 7.22613E-4 41516 0 6.25E-4
2-64779307-T-G p.Asp233Glu missense AFTPH 2 83086 2.40714E-5 41543 0 NA
2-64779315-C-T p.Thr236Ile missense AFTPH 1 83080 1.20366E-5 41540 0 8.29009E-6
2-64779316-A-G p.Thr236Thr synonymous AFTPH 1 83088 1.20354E-5 41544 0 3.98788E-6
2-64779322-C-T p.Ser238Ser synonymous AFTPH 1 83076 1.20372E-5 41538 0 NA
2-64779325-A-T p.Lys239Asn missense AFTPH 1 83080 1.20366E-5 41540 0 3.98874E-6
2-64779326-A-G p.Lys240Glu missense AFTPH 1 83078 1.20369E-5 41539 0 3.98816E-6
2-64779334-G-A p.Arg242Arg synonymous AFTPH 2 83058 2.40796E-5 41529 0 3.18431E-5
2-64779341-T-C p.Leu245Leu synonymous AFTPH 1 83062 1.20392E-5 41531 0 NA
2-64779360-C-T p.Ala251Val missense AFTPH 1 82964 1.20534E-5 41482 0 3.9968E-6
2-64779373-T-C p.Asp255Asp synonymous AFTPH 2 82904 2.41243E-5 41452 0 NA
2-64779382-A-T p.Ala258Ala synonymous AFTPH 2 82856 2.41383E-5 41428 0 3.59376E-5
2-64779383-C-A p.Leu259Ile missense AFTPH 1 82840 1.20715E-5 41420 0 NA
2-64779392-C-T p.Arg262Trp missense AFTPH 2 82842 2.41423E-5 41421 0 1.27429E-4
2-64779393-G-A p.Arg262Gln missense AFTPH 1 82812 1.20755E-5 41406 0 8.31366E-6
2-64779402-A-G p.Asn265Ser missense AFTPH 2 82826 2.4147E-5 41413 0 6.25E-4
2-64779408-T-TTTA p.Ile267_Asn268insTyr conservative_inframe_insertion AFTPH 1 82808 1.20761E-5 41404 0 NA
2-64779417-T-C p.Val270Ala missense AFTPH 2 82796 2.41558E-5 41398 0 NA
2-64779427-G-A p.Leu273Leu synonymous AFTPH 1 82790 1.20788E-5 41395 0 NA
2-64779444-T-C p.Val279Ala missense AFTPH 1 82804 1.20767E-5 41402 0 1.19602E-5
2-64779452-G-A p.Gly282Ser missense AFTPH 22 82808 2.65675E-4 41404 0 0.00127792
2-64779471-A-G p.Lys288Arg missense AFTPH 2 82886 2.41295E-5 41443 0 4.78095E-5
2-64779480-C-T p.Thr291Ile missense AFTPH 2 82880 2.41313E-5 41440 0 2.4825E-5
2-64779491-G-A p.Asp295Asn missense AFTPH 3 82888 3.61934E-5 41444 0 NA
2-64779500-T-C p.Cys298Arg missense AFTPH 1 82950 1.20555E-5 41475 0 NA
2-64779509-G-A p.Glu301Lys missense AFTPH 4980 82924 0.060055 41462 619 0.114894
2-64779518-A-G p.Ile304Val missense AFTPH 1 82980 1.20511E-5 41490 0 6.36821E-5
2-64779531-G-C p.Arg308Thr missense AFTPH 1 83020 1.20453E-5 41510 0 NA
2-64779535-T-C p.Gly309Gly synonymous AFTPH 6 83016 7.22752E-5 41508 0 9.66121E-5
2-64779556-C-G p.Gly316Gly synonymous AFTPH 1 83048 1.20412E-5 41524 0 3.3012E-5
2-64779566-C-T p.Leu320Leu synonymous AFTPH 3 83080 3.61098E-5 41540 0 2.47566E-5
2-64779573-A-G p.Gln322Arg missense AFTPH 1 83088 1.20354E-5 41544 0 1.65027E-5
2-64779578-G-A p.Glu324Lys missense AFTPH 21 83088 2.52744E-4 41544 0 0.00140118
2-64779593-G-A p.Gly329Ser missense AFTPH 3 83102 3.61002E-5 41551 0 NA
2-64779611-T-G p.Trp335Gly missense AFTPH 2 83078 2.40738E-5 41539 0 1.65016E-5
2-64779622-A-G p.Val338Val synonymous AFTPH 15 83106 1.80492E-4 41553 0 1.32013E-4
2-64779625-C-T p.Asp339Asp synonymous AFTPH 17 83102 2.04568E-4 41551 1 3.98111E-5
2-64779626-T-C p.Ser340Pro missense AFTPH 178 83100 0.002142 41550 1 0.00468063
2-64779635-A-G p.Asn343Asp missense AFTPH 4 83096 4.81371E-5 41548 0 6.36943E-5
2-64779656-GAAC-G p.Gln351del conservative_inframe_deletion AFTPH 3 83118 3.60933E-5 41559 0 6.37024E-5
2-64779662-T-C p.Cys352Arg missense AFTPH 1 83132 1.20291E-5 41566 0 2.47639E-5
2-64779670-T-G p.Thr354Thr synonymous AFTPH 1 83156 1.20256E-5 41578 0 NA
2-64779676-A-G p.Glu356Glu synonymous AFTPH 23 83158 2.76582E-4 41579 0 0.00151057
2-64779685-C-T p.Asp359Asp synonymous AFTPH 1 83162 1.20247E-5 41581 0 NA
2-64779696-C-G p.Ser363Cys missense AFTPH 1 83170 1.20236E-5 41585 0 3.98483E-6
2-64779710-C-G p.Leu368Val missense AFTPH 3 83178 3.60672E-5 41589 0 3.18451E-5
2-64779713-T-C p.Cys369Arg missense AFTPH 3 83186 3.60638E-5 41593 0 2.47782E-5
2-64779729-A-G p.Lys374Arg missense AFTPH 1 83190 1.20207E-5 41595 0 1.59397E-5
2-64779736-T-C p.Ser376Ser synonymous AFTPH 3 83188 3.60629E-5 41594 0 1.59389E-5
2-64779749-G-T p.Gly381Cys missense AFTPH 1 83204 1.20187E-5 41602 0 3.98343E-6
2-64779752-T-G p.Ser382Ala missense AFTPH 22 83198 2.64429E-4 41599 0 1.55352E-4
2-64779753-C-G p.Ser382Cys missense AFTPH 1 83210 1.20178E-5 41605 0 1.65188E-5
2-64779770-A-G p.Arg388Gly missense AFTPH 18 83190 2.16372E-4 41595 0 0.00151057
2-64779778-T-C p.Phe390Phe synonymous AFTPH 1 83198 1.20195E-5 41599 0 NA
2-64779782-A-G p.Asn392Asp missense AFTPH 1 83196 1.20198E-5 41598 0 NA
2-64779793-C-T p.Ser395Ser synonymous AFTPH 32 83166 3.84773E-4 41583 0 0.0040282
2-64779811-A-G p.Thr401Thr synonymous AFTPH 5 83172 6.01164E-5 41586 0 NA
2-64779830-G-A p.Asp408Asn missense AFTPH 48 83176 5.7709E-4 41588 0 6.25E-4
2-64779834-C-T p.Ser409Phe missense AFTPH 2 83186 2.40425E-5 41593 0 7.95836E-6
2-64779850-T-C p.Asn414Asn synonymous AFTPH 4 83200 4.80769E-5 41600 0 8.35561E-5
2-64779859-T-C p.Ser417Ser synonymous AFTPH 1 83202 1.20189E-5 41601 0 6.25E-4
2-64779861-G-A p.Ser418Asn missense AFTPH 2 83198 2.4039E-5 41599 0 3.97855E-6
2-64779866-G-A p.Asp420Asn missense AFTPH 1 83186 1.20213E-5 41593 0 NA
2-64779874-G-A p.Val422Val synonymous AFTPH 3 83188 3.60629E-5 41594 0 8.23968E-6
2-64779881-AATG-A p.Asp426del conservative_inframe_deletion AFTPH 1 83176 1.20227E-5 41588 0 NA
2-64779881-A-G p.Asn425Asp missense AFTPH 2 83176 2.40454E-5 41588 0 3.18431E-5
2-64779882-A-G p.Asn425Ser missense AFTPH 1 83174 1.2023E-5 41587 0 3.1837E-5
2-64779884-G-T p.Asp426Tyr missense AFTPH 1 83172 1.20233E-5 41586 0 NA
2-64779891-A-G p.Asn428Ser missense AFTPH 2 83148 2.40535E-5 41574 0 1.64794E-5
2-64779897-ATGATTTTGG-A p.Phe435_Asp437del disruptive_inframe_deletion AFTPH 3 83134 3.60863E-5 41567 0 4.94397E-5
2-64779899-G-C p.Asp431His missense AFTPH 1 83122 1.20305E-5 41561 0 1.64804E-5
2-64779929-G-C p.Ala441Pro missense AFTPH 4 82958 4.82172E-5 41479 0 2.47276E-5
2-64779936-G-A p.Gly443Asp missense AFTPH 1 82906 1.20619E-5 41453 0 8.24362E-6
2-64779941-A-G p.Thr445Ala missense AFTPH 1 82856 1.20691E-5 41428 0 9.55779E-5
2-64779968-G-T p.Asp454Tyr missense AFTPH 1 82622 1.21033E-5 41311 0 NA
2-64779991-T-C p.Phe461Phe synonymous AFTPH 2 82614 2.4209E-5 41307 0 7.97397E-6
2-64780014-C-G p.Pro469Arg missense AFTPH 1 82640 1.21007E-5 41320 0 NA
2-64780053-G-C p.Gly482Ala missense AFTPH 1 82636 1.21013E-5 41318 0 NA
2-64780054-G-T p.Gly482Gly synonymous AFTPH 2 82640 2.42014E-5 41320 0 7.97423E-6
2-64780059-T-G p.Ile484Arg missense AFTPH 1 82650 1.20992E-5 41325 0 1.27397E-4
2-64780067-G-A p.Val487Ile missense AFTPH 3 82654 3.62959E-5 41327 0 NA
2-64780091-T-C p.Leu495Leu synonymous AFTPH 2 82626 2.42055E-5 41313 0 8.26037E-6
2-64780095-C-G p.Thr496Arg missense AFTPH 1 82620 1.21036E-5 41310 0 3.98886E-6
2-64780105-C-T p.Asp499Asp synonymous AFTPH 1 82624 1.2103E-5 41312 0 3.98874E-6
2-64780139-T-C p.Cys511Arg missense AFTPH 1 82828 1.20732E-5 41414 0 NA
2-64780142-C-A p.Gln512Lys missense AFTPH 1 82836 1.2072E-5 41418 0 NA
2-64780144-A-G p.Gln512Gln synonymous AFTPH 3175 82816 0.038338 41408 69 0.0317611
2-64780163-G-A p.Gly519Arg missense AFTPH 2 82952 2.41103E-5 41476 0 8.25328E-6
2-64780168-A-G p.Thr520Thr synonymous AFTPH 1 82990 1.20496E-5 41495 0 NA
2-64780185-C-G p.Ala526Gly missense AFTPH 2 83062 2.40784E-5 41531 0 4.12188E-5
2-64780189-A-C p.Lys527Asn missense AFTPH 4 83060 4.8158E-5 41530 0 3.18365E-5
2-64780206-A-G p.Glu533Gly missense AFTPH 35 83144 4.20956E-4 41572 0 2.86551E-4
2-64780213-G-A p.Glu535Glu synonymous AFTPH 2 83162 2.40494E-5 41581 0 NA
2-64780227-A-T p.Asp540Val missense AFTPH 1 83172 1.20233E-5 41586 0 5.03525E-4
2-64780236-C-G p.Pro543Arg missense AFTPH 1 83184 1.20215E-5 41592 0 NA
2-64780238-A-G p.Asn544Asp missense AFTPH 12 83184 1.44259E-4 41592 0 1.23583E-4
2-64780256-A-T p.Asn550Tyr missense AFTPH 113 83184 0.00135843 41592 0 0.00130573
2-64780257-A-G p.Asn550Ser missense AFTPH 240 83190 0.00288496 41595 1 0.0060423
2-64780258-T-C p.Asn550Asn synonymous AFTPH 1 83190 1.20207E-5 41595 0 NA
2-64780282-T-C p.Phe558Phe synonymous AFTPH 1 83200 1.20192E-5 41600 0 NA
2-64780294-T-C p.Ser562Ser synonymous AFTPH 42 83190 5.04868E-4 41595 2 0.00214048
2-64780300-T-A p.Ala564Ala synonymous AFTPH 1 83186 1.20213E-5 41593 0 8.23886E-5
2-64780301-G-T p.Gly565Cys missense AFTPH 2 83184 2.40431E-5 41592 0 8.23981E-6
2-64780301-G-A p.Gly565Ser missense AFTPH 1 83184 1.20215E-5 41592 0 NA
2-64780313-G-A p.Val569Ile missense AFTPH 1 83184 1.20215E-5 41592 0 NA
2-64780319-G-C p.Asp571His missense AFTPH 4 83188 4.80839E-5 41594 0 3.1835E-5
2-64780319-G-T p.Asp571Tyr missense AFTPH 1 83188 1.2021E-5 41594 0 3.97994E-6
2-64780326-A-ATGCTTTTGAGGATGAACAAAAAGATAGTTGTTCTTGGGC p.Glu576_Phe588dup disruptive_inframe_insertion AFTPH 1 83192 1.20204E-5 41596 0 NA
2-64780329-C-T p.Ala574Val missense AFTPH 1 83198 1.20195E-5 41599 0 NA
2-64780334-G-C p.Glu576Gln missense AFTPH 2 83212 2.4035E-5 41606 0 9.55597E-5
2-64780353-G-A p.Ser582Asn missense AFTPH 3 83234 3.6043E-5 41617 0 NA
2-64780358-T-C p.Ser584Pro missense AFTPH 1 83240 1.20135E-5 41620 0 NA
2-64780365-C-T p.Ala586Val missense AFTPH 2 83264 2.402E-5 41632 0 NA
2-64780376-G-A p.Asp590Asn missense AFTPH 40 83264 4.804E-4 41632 0 0.00302115
2-64780384-G-C p.Gln592His missense AFTPH 1 83264 1.201E-5 41632 0 NA
2-64780389-C-G p.Thr594Ser missense AFTPH 2 83270 2.40183E-5 41635 0 8.24226E-6
2-64780393-A-G p.Glu595Glu synonymous AFTPH 2 83282 2.40148E-5 41641 0 3.58007E-5
2-64780404-G-A p.Arg599Gln missense AFTPH 150 83280 0.00180115 41640 0 0.00553877
2-64780423-A-AC p.His606fs frameshift AFTPH 2 83266 2.40194E-5 41633 0 NA
2-64780426-T-C p.His606His synonymous AFTPH 1 83266 1.20097E-5 41633 0 NA
2-64780428-G-T p.Arg607Met missense AFTPH 2 83266 2.40194E-5 41633 0 3.97874E-6
2-64780431-C-T p.Thr608Ile missense AFTPH 2 83260 2.40211E-5 41630 0 8.25137E-6
2-64780445-G-T p.Asp613Tyr missense AFTPH 2 83254 2.40229E-5 41627 0 NA
2-64780446-A-G p.Asp613Gly missense AFTPH 1 83252 1.20117E-5 41626 0 2.38749E-5
2-64780466-A-G p.Thr620Ala missense AFTPH 381 83196 0.00457955 41598 2 0.00625
2-64780467-C-T p.Thr620Met missense AFTPH 7 83218 8.41164E-5 41609 0 8.3682E-5
2-64780468-G-A p.Thr620Thr synonymous AFTPH 9 83208 1.08163E-4 41604 0 1.27453E-4
2-64780469-C-G p.His621Asp missense AFTPH 8 83202 9.61515E-5 41601 0 3.18634E-5
2-64780471-C-G p.His621Gln missense AFTPH 3 83204 3.6056E-5 41602 0 0.00125
2-64780487-A-G p.Thr627Ala missense AFTPH 1 83116 1.20314E-5 41558 0 4.07216E-6
2-64780499-G-A p.Ala631Thr missense AFTPH 1 83052 1.20406E-5 41526 0 4.16032E-6
2-64780504-T-A p.Val632Val synonymous AFTPH 5 82988 6.02497E-5 41494 0 3.76528E-5
2-64780510-T-G p.Ser634Arg missense AFTPH 1 82838 1.20718E-5 41419 0 4.21038E-6
2-64780515-A-G p.His636Arg missense AFTPH 3 82748 3.62547E-5 41374 0 8.12966E-5
2-64780532-A-G p.Thr642Ala missense AFTPH 7 82228 8.51292E-5 41114 0 1.85362E-4
2-64780547-T-G c.1935+4T>G splice_region AFTPH 1 81588 1.22567E-5 40794 0 NA
2-64794688-T-C c.1936-8T>C splice_region AFTPH 6 83224 7.20946E-5 41612 0 3.38633E-5
2-64794690-A-T c.1936-6A>T splice_region AFTPH 3 83226 3.60464E-5 41613 0 4.22083E-5
2-64794690-A-G c.1936-6A>G splice_region AFTPH 1 83226 1.20155E-5 41613 0 4.27266E-6
2-64794709-A-G p.Asn650Ser missense AFTPH 1 83244 1.20129E-5 41622 0 NA
2-64794710-C-T p.Asn650Asn synonymous AFTPH 1 83242 1.20132E-5 41621 0 2.04042E-5
2-64794711-C-T p.Arg651Cys missense AFTPH 2 83246 2.40252E-5 41623 0 6.25E-4
2-64794718-A-G p.Glu653Gly missense AFTPH 3 83232 3.60438E-5 41616 0 8.2728E-6
2-64794719-G-A p.Glu653Glu synonymous AFTPH 1 83230 1.20149E-5 41615 0 8.27171E-6
2-64794723-A-G p.Ile655Val missense AFTPH 3 83226 3.60464E-5 41613 0 8.26323E-6
2-64794724-T-C p.Ile655Thr missense AFTPH 1 83228 1.20152E-5 41614 0 NA
2-64794732-G-A p.Ala658Thr missense AFTPH 10 83212 1.20175E-4 41606 0 2.4766E-5
2-64794733-C-T p.Ala658Val missense AFTPH 1 83206 1.20184E-5 41603 0 NA
2-64794745-C-G p.Ser662Cys missense AFTPH 1 83184 1.20215E-5 41592 0 3.98902E-6
2-64794770-G-A p.Glu670Glu synonymous AFTPH 3 83098 3.6102E-5 41549 0 8.24906E-6
2-64794778-C-A p.Thr673Asn missense AFTPH 2 83062 2.40784E-5 41531 0 8.24906E-6
2-64794803-A-G p.Thr681Thr synonymous AFTPH 1 83106 1.20328E-5 41553 0 3.1837E-5
2-64794804-A-G p.Ser682Gly missense AFTPH 1 83092 1.20349E-5 41546 0 NA
2-64794805-G-A p.Ser682Asn missense AFTPH 1 83078 1.20369E-5 41539 0 3.9894E-6
2-64794807-A-T p.Thr683Ser missense AFTPH 1 83092 1.20349E-5 41546 0 NA
2-64794812-G-C p.Leu684Phe missense AFTPH 1 83070 1.2038E-5 41535 0 NA
2-64794816-A-G p.Ile686Val missense AFTPH 2 83078 2.40738E-5 41539 0 4.12943E-5
2-64794824-G-A p.Thr688Thr synonymous AFTPH 2 83072 2.40755E-5 41536 0 3.99517E-6
2-64794834-T-C p.Leu692Leu synonymous AFTPH 1 83044 1.20418E-5 41522 0 3.18471E-5
2-64794837-C-G p.Pro693Ala missense AFTPH 5 83046 6.02076E-5 41523 0 2.02193E-5
2-64794837-C-T p.Pro693Ser missense AFTPH 1 83046 1.20415E-5 41523 0 4.04387E-6
2-64796218-C-T c.2088-8C>T splice_region AFTPH 1 83152 1.20262E-5 41576 0 3.97928E-6
2-64796220-T-C c.2088-6T>C splice_region AFTPH 2 83164 2.40489E-5 41582 0 NA
2-64796232-G-A p.Leu698Leu synonymous AFTPH 6 83218 7.20998E-5 41609 0 9.06125E-5
2-64796268-T-G p.Asp710Glu missense AFTPH 1 83266 1.20097E-5 41633 0 5.03525E-4
2-64796281-A-C p.Arg715Arg synonymous AFTPH 1 83282 1.20074E-5 41641 0 NA
2-64796294-G-T p.Gly719Val missense AFTPH 2 83262 2.40206E-5 41631 0 NA
2-64796295-C-T p.Gly719Gly synonymous AFTPH 3 83252 3.60352E-5 41626 0 2.47158E-5
2-64796296-G-A p.Gly720Ser missense AFTPH 1 83256 1.20111E-5 41628 0 NA
2-64796315-A-G p.Lys726Arg missense AFTPH 1 83202 1.20189E-5 41601 0 NA
2-64796318-T-A p.Leu727His missense AFTPH 3 83190 3.6062E-5 41595 0 7.96565E-6
2-64796325-C-T p.Ser729Ser synonymous AFTPH 2 83142 2.40552E-5 41571 0 1.64992E-5
2-64796341-A-G p.Thr735Ala missense AFTPH 1 83026 1.20444E-5 41513 0 NA
2-64796764-C-T p.Thr741Met missense AFTPH 1 82810 1.20758E-5 41405 0 3.98032E-6
2-64796767-G-C p.Gly742Ala missense AFTPH 1 82832 1.20726E-5 41416 0 NA
2-64796774-G-A p.Lys744Lys synonymous AFTPH 2 82868 2.41348E-5 41434 0 3.97972E-6
2-64796794-C-T p.Pro751Leu missense AFTPH 1 82886 1.20648E-5 41443 0 NA
2-64796807-A-G p.Ala755Ala synonymous AFTPH 1 82822 1.20741E-5 41411 0 7.56303E-5
2-64796816-A-G c.2271+3A>G splice_region AFTPH 67 82694 8.10216E-4 41347 0 0.00625
2-64796817-A-C c.2271+4A>C splice_region AFTPH 1073 82666 0.0129799 41333 24 0.02618
2-64800098-A-C p.Lys764Gln missense AFTPH 1 83332 1.20002E-5 41666 0 6.36821E-5
2-64800145-C-T p.Ile779Ile synonymous AFTPH 1 83334 1.19999E-5 41667 0 6.37349E-5
2-64800151-G-C p.Gln781His missense AFTPH 2 83332 2.40004E-5 41666 0 1.19324E-5
2-64800157-C-T p.Ala783Ala synonymous AFTPH 1 83326 1.20011E-5 41663 0 NA
2-64800182-T-C p.Cys792Arg missense AFTPH 3 83238 3.60412E-5 41619 0 3.97893E-6
2-64800184-T-C p.Cys792Cys synonymous AFTPH 2 83220 2.40327E-5 41610 0 6.37186E-5
2-64806621-A-T p.Glu799Val missense+splice_region AFTPH 1 82856 1.20691E-5 41428 0 1.19384E-5
2-64806625-T-C p.Ser800Ser synonymous AFTPH 1 82900 1.20627E-5 41450 0 NA
2-64806664-T-C p.Leu813Leu synonymous AFTPH 6 82942 7.23397E-5 41471 0 6.37267E-5
2-64806670-C-T p.Asn815Asn synonymous AFTPH 15 82908 1.80923E-4 41454 0 0.00302115
2-64806678-A-C p.Asp818Ala missense+splice_region AFTPH 1 82866 1.20677E-5 41433 0 NA
2-64806682-T-TGTGGATCCGGAGTTGTATGAGTTAACAACTTCTAAGCTGGA c.2455+2_2455+3insGTGGATCCGGAGTTGTATGAGTTAACAACTTCTAAGCTGGA splice_region AFTPH 1 82832 1.20726E-5 41416 0 NA
2-64808327-G-C p.Ser820Thr missense AFTPH 1 82316 1.21483E-5 41158 0 NA
2-64808336-C-T p.Ser823Phe missense AFTPH 1 82330 1.21462E-5 41165 0 NA
2-64808347-A-T p.Asn827Tyr missense AFTPH 2 82350 2.42866E-5 41175 0 NA
2-64808368-G-A p.Val834Met missense AFTPH 1 82344 1.21442E-5 41172 0 5.74295E-5
2-64808371-G-A p.Asp835Asn missense AFTPH 2 82350 2.42866E-5 41175 0 NA
2-64808382-C-T p.Ser838Ser synonymous AFTPH 1 82300 1.21507E-5 41150 0 NA
2-64808386-A-G p.Ser840Gly missense AFTPH 1 82278 1.21539E-5 41139 0 1.95374E-5
2-64808387-G-A p.Ser840Asn missense AFTPH 7 82260 8.5096E-5 41130 0 0.00131553
2-64808408-G-GTGTGGA c.2539+1_2539+2insTGTGGA splice_donor AFTPH 1 82058 1.21865E-5 41029 0 NA
2-64808411-A-C c.2539+4A>C splice_region AFTPH 1 81986 1.21972E-5 40993 0 NA
2-64808414-A-G c.2539+7A>G splice_region AFTPH 1 81956 1.22017E-5 40978 0 2.33503E-5
2-64812566-G-A p.Pro850Pro synonymous AFTPH 3 83126 3.60898E-5 41563 0 8.23764E-6
2-64812577-A-C p.Glu854Ala missense AFTPH 1 83128 1.20296E-5 41564 0 NA
2-64812585-A-T p.Thr857Ser missense AFTPH 1 83122 1.20305E-5 41561 0 NA
2-64812589-C-T p.Ser858Phe missense AFTPH 1 83128 1.20296E-5 41564 0 NA
2-64812601-T-C p.Ile862Thr missense AFTPH 1 83140 1.20279E-5 41570 0 NA
2-64812614-C-A p.Ser866Arg missense AFTPH 2 83132 2.40581E-5 41566 0 5.03525E-4
2-64812624-A-G p.Thr870Ala missense AFTPH 2 83148 2.40535E-5 41574 0 8.2394E-6
2-64812629-T-C p.Asp871Asp synonymous AFTPH 2 83168 2.40477E-5 41584 0 3.18451E-5
2-64812634-T-A p.Phe873Tyr missense AFTPH 1 83174 1.2023E-5 41587 0 NA
2-64812680-GTAAA-G c.2663+2_2663+5delTAAA splice_donor AFTPH 2 83148 2.40535E-5 41574 0 6.3674E-5
2-64812687-A-C c.2663+8A>C splice_region AFTPH 2 83100 2.40674E-5 41550 0 NA
2-64819028-G-A p.Pro890Pro synonymous AFTPH 5 82946 6.02802E-5 41473 0 3.98489E-5
2-64819040-G-A p.Glu894Glu synonymous AFTPH 1 82940 1.20569E-5 41470 0 NA
2-64819043-C-A p.His895Gln missense AFTPH 1 82944 1.20563E-5 41472 0 NA
2-64819059-A-G p.Ile901Val missense AFTPH 3 82900 3.61882E-5 41450 0 1.03536E-4
2-64819061-C-T p.Ile901Ile synonymous AFTPH 1 82904 1.20621E-5 41452 0 NA
2-64819070-C-T p.Ile904Ile synonymous AFTPH 1 82870 1.20671E-5 41435 0 2.47349E-5
2-64819071-G-A p.Ala905Thr missense AFTPH 4 82848 4.82812E-5 41424 0 0.00100705
2-64819075-G-A p.Gly906Asp missense AFTPH 1 82856 1.20691E-5 41428 0 3.98381E-6
2-64819096-T-C p.Met913Thr missense AFTPH 4 82782 4.83197E-5 41391 0 3.18756E-5
2-64819109-G-A p.Val917Val synonymous AFTPH 4 82716 4.83582E-5 41358 0 NA
2-64819126-C-T p.Thr923Met missense AFTPH 3 82666 3.62906E-5 41333 0 6.38244E-5
2-64819127-G-A p.Thr923Thr synonymous AFTPH 3 82656 3.6295E-5 41328 0 5.03525E-4
2-64819143-A-C p.Ser929Arg missense AFTPH 53 82668 6.41119E-4 41334 1 0.00134048
2-64819144-G-A p.Ser929Asn missense AFTPH 1 82668 1.20966E-5 41334 0 NA
2-64819147-C-T p.Ser930Phe missense AFTPH 2 82688 2.41873E-5 41344 0 NA
2-64819158-G-C p.Ala934Pro missense AFTPH 2 82734 2.41739E-5 41367 0 NA
2-64819161-G-A p.Asp935Asn missense AFTPH 3 82726 3.62643E-5 41363 0 7.97798E-6
2-64819163-C-T p.Asp935Asp synonymous AFTPH 10 82722 1.20887E-4 41361 0 4.38859E-5
2-64819164-G-A p.Gly936Arg missense AFTPH 1 82726 1.20881E-5 41363 0 8.25246E-6
2-64819249-TAA-T n.4674_*1delAA splice_region AFTPH 18 73794 2.43922E-4 36897 0 NA
2-64819249-TAAAAAAAAA-T c.*92_*100delAAAAAAAAA splice_region AFTPH 1 73892 1.35333E-5 36946 0 NA
2-64819249-TAAA-T n.4673_*1delAAA splice_region AFTPH 6 73878 8.1215E-5 36939 0 NA
2-64819249-TAAAA-T c.*97_*100delAAAA splice_region AFTPH 3 73890 4.06009E-5 36945 0 NA
2-64820125-ATAATT-A c.*960_*964delTTTAA splice_region AFTPH 1 43984 2.27355E-5 21992 0 3.18451E-5