Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-178352863-T-G p.Ter347Serext*? stop_lost AGA 1 83218 1.20166E-5 41609 0 NA
4-178352873-C-G p.Asp344His missense AGA 3 83208 3.60542E-5 41604 0 1.70605E-5
4-178352880-T-C p.Glu341Glu synonymous AGA 739 83174 0.00888499 41587 5 0.00980425
4-178352902-TCG-T p.Glu334fs frameshift AGA 1 83080 1.20366E-5 41540 0 NA
4-178352904-G-A p.Ser333Ser synonymous AGA 1 83072 1.20378E-5 41536 0 6.25E-4
4-178352905-G-GTA p.Ser333fs frameshift AGA 1 83064 1.20389E-5 41532 0 NA
4-178352907-ATT-A p.Asn332fs frameshift AGA 1 83062 1.20392E-5 41531 0 NA
4-178352923-C-T p.Ser327Asn missense AGA 1 82996 1.20488E-5 41498 0 NA
4-178352924-T-C p.Ser327Gly missense AGA 8 82990 9.63972E-5 41495 0 1.59307E-4
4-178352925-A-C p.Phe326Leu missense AGA 4 82996 4.81951E-5 41498 0 3.33968E-5
4-178352925-A-G p.Phe326Phe synonymous AGA 1 82996 1.20488E-5 41498 0 3.18674E-5
4-178352932-G-A p.Thr324Ile missense AGA 3 82992 3.61481E-5 41496 0 NA
4-178352937-T-C p.Thr322Thr synonymous AGA 1 82966 1.20531E-5 41483 0 3.98444E-6
4-178352938-G-A p.Thr322Ile missense AGA 139 82956 0.00167559 41478 1 0.00439771
4-178352967-G-A c.941-5C>T splice_region AGA 1 82790 1.20788E-5 41395 0 9.57365E-5
4-178354368-C-T p.Gly314Ser missense+splice_region AGA 1 83162 1.20247E-5 41581 0 2.47129E-5
4-178354369-G-A p.Tyr313Tyr splice_region+synonymous AGA 2 83180 2.40442E-5 41590 0 3.1841E-5
4-178354379-G-A p.Thr310Ile missense AGA 1 83226 1.20155E-5 41613 0 NA
4-178354385-T-C p.Asn308Ser missense AGA 15 83258 1.80163E-4 41629 0 1.31253E-4
4-178354389-C-T p.Ala307Thr missense AGA 3 83256 3.60334E-5 41628 0 8.23723E-6
4-178354393-T-C p.Ile305Met missense AGA 1 83280 1.20077E-5 41640 0 NA
4-178354394-A-T p.Ile305Lys missense AGA 1 83286 1.20068E-5 41643 0 3.1837E-5
4-178354394-A-C p.Ile305Arg missense AGA 1 83286 1.20068E-5 41643 0 8.2371E-6
4-178354395-T-A p.Ile305Leu missense AGA 3 83288 3.60196E-5 41644 0 3.18431E-5
4-178354406-A-G p.Phe301Ser missense AGA 188 83290 0.00225717 41645 2 0.00704935
4-178354406-A-C p.Phe301Cys missense AGA 2 83294 2.40113E-5 41647 0 4.11855E-5
4-178354423-C-T p.Lys295Lys synonymous AGA 27 83292 3.24161E-4 41646 0 2.30635E-4
4-178354434-T-C p.Arg292Gly missense AGA 1 83296 1.20054E-5 41648 0 1.64737E-5
4-178354443-C-T p.Val289Met missense AGA 1 83294 1.20057E-5 41647 0 1.64734E-5
4-178354460-G-A p.Thr283Ile missense AGA 1 83280 1.20077E-5 41640 0 NA
4-178354466-T-C p.Asp281Gly missense AGA 3 83282 3.60222E-5 41641 0 8.23696E-6
4-178354472-CCTCTT-C p.Gly279fs frameshift AGA 2 83268 2.40188E-5 41634 0 7.95501E-6
4-178355533-T-C c.806+3A>G splice_region AGA 5 83376 5.99693E-5 41688 0 1.59236E-4
4-178355548-C-T p.Arg265His missense AGA 8 83400 9.59233E-5 41700 0 0.001875
4-178355549-G-A p.Arg265Cys missense AGA 15 83400 1.79856E-4 41700 0 1.59246E-4
4-178355550-C-T p.Met264Ile missense AGA 15 83402 1.79852E-4 41701 0 2.22873E-4
4-178355566-T-C p.Asn259Ser missense AGA 2 83414 2.39768E-5 41707 0 6.25E-4
4-178355579-C-T p.Ala255Thr missense AGA 4 83362 4.79835E-5 41681 0 6.25E-4
4-178355580-G-A p.Ala254Ala synonymous AGA 107 83372 0.0012834 41686 0 9.87261E-4
4-178355588-C-G p.Gly252Arg missense AGA 1 83382 1.1993E-5 41691 0 NA
4-178355590-G-T p.Ala251Glu missense AGA 1 83348 1.19979E-5 41674 0 NA
4-178355597-C-T p.Asp249Asn missense AGA 2 83362 2.39917E-5 41681 0 6.25E-4
4-178355598-G-A p.Asp248Asp synonymous AGA 14 83364 1.67938E-4 41682 0 4.13907E-4
4-178355600-C-A p.Asp248Tyr missense AGA 2 83366 2.39906E-5 41683 0 8.23642E-6
4-178355628-T-C p.Ser238Ser synonymous AGA 1 83376 1.19939E-5 41688 0 NA
4-178355629-G-A p.Ser238Leu missense AGA 1 83374 1.19941E-5 41687 0 3.97646E-6
4-178355642-G-A p.Arg234Cys missense+splice_region AGA 1 83352 1.19973E-5 41676 0 3.29478E-5
4-178355642-G-C p.Arg234Gly missense+splice_region AGA 1 83352 1.19973E-5 41676 0 3.97668E-6
4-178355648-G-A c.699-5C>T splice_region AGA 1 83330 1.20005E-5 41665 0 3.18451E-5
4-178357434-G-C p.His232Asp missense AGA 1 83268 1.20094E-5 41634 0 NA
4-178357449-T-C p.Ile227Val missense AGA 1 83286 1.20068E-5 41643 0 NA
4-178357453-A-G p.Asn123Asn splice_region+synonymous AGA 43 83282 5.16318E-4 41641 0 9.88205E-4
4-178357471-A-G p.Ala219Ala synonymous AGA 2 83260 2.40211E-5 41630 0 7.95893E-6
4-178357475-A-G p.Ile218Thr missense AGA 1 83258 1.20109E-5 41629 0 3.97978E-6
4-178357476-T-C p.Ile218Val missense AGA 1 83248 1.20123E-5 41624 0 NA
4-178357483-T-C p.Thr215Thr synonymous AGA 1 83228 1.20152E-5 41614 0 3.58289E-5
4-178357503-T-C p.Met209Val missense+splice_region AGA 2 83104 2.40662E-5 41552 0 3.99457E-6
4-178357504-G-A p.Gly208Gly splice_region+synonymous AGA 1 83092 1.20349E-5 41546 0 NA
4-178357506-C-CAA c.623-2_623-1insTT splice_acceptor AGA 1 83076 1.20372E-5 41538 0 NA
4-178357508-A-G c.623-3T>C splice_region AGA 3 83044 3.61254E-5 41522 0 1.20054E-5
4-178357509-G-C c.623-4C>G splice_region AGA 3 83014 3.61385E-5 41507 1 3.35909E-5
4-178357511-AGTT-A c.623-9_623-7delAAC splice_region AGA 1 82988 1.20499E-5 41494 0 NA
4-178357511-A-G c.623-6T>C splice_region AGA 2 82986 2.41005E-5 41493 0 7.43752E-5
4-178357512-G-A c.623-7C>T splice_region AGA 204 82892 0.00246103 41446 0 0.00501882
4-178358559-C-T p.Gly208Ser missense+splice_region AGA 1 83086 1.20357E-5 41543 0 NA
4-178358560-A-G p.Ile207Ile splice_region+synonymous AGA 1 83094 1.20346E-5 41547 0 NA
4-178358561-A-G p.Ile207Thr missense+splice_region AGA 3 83094 3.61037E-5 41547 0 8.32584E-6
4-178358564-G-A p.Thr206Ile missense AGA 1 83096 1.20343E-5 41548 0 NA
4-178358577-G-A p.Arg202Cys missense AGA 1 83152 1.20262E-5 41576 0 8.27061E-6
4-178358606-A-G p.Ile192Thr missense AGA 2 83216 2.40338E-5 41608 0 NA
4-178358625-C-T p.Gly186Ser missense AGA 1 83232 1.20146E-5 41616 0 NA
4-178358636-TAGGGTCCGC-T p.Cys179_Pro181del disruptive_inframe_deletion AGA 1 83210 1.20178E-5 41605 0 NA
4-178358643-C-T p.Gly180Arg missense AGA 3 83194 3.60603E-5 41597 0 5.79518E-5
4-178358644-G-A p.Cys179Cys synonymous AGA 3 83194 3.60603E-5 41597 0 3.18654E-5
4-178358644-G-T p.Cys179* stop_gained AGA 2 83194 2.40402E-5 41597 0 3.97937E-6
4-178358650-T-C p.Lys177Lys synonymous AGA 1 83196 1.20198E-5 41598 0 3.97871E-6
4-178358653-T-C p.Ser176Ser synonymous AGA 1 83184 1.20215E-5 41592 0 NA
4-178358658-G-A p.Pro175Ser missense AGA 8 83152 9.62094E-5 41576 0 6.37227E-5
4-178358666-A-G p.Ile172Thr missense AGA 1 83114 1.20317E-5 41557 0 1.69658E-5
4-178358671-A-G p.Asn170Asn splice_region+synonymous AGA 1 83084 1.2036E-5 41542 0 NA
4-178358672-T-TTCCTCCAATAATTTGGCTGGCAATTCCGAGCAAGCCAA p.Asn170fs frameshift AGA 3 83082 3.61089E-5 41541 1 NA
4-178359891-G-A c.507+8C>T splice_region AGA 2 82956 2.41092E-5 41478 0 NA
4-178359903-C-T p.Trp168* stop_gained AGA 1 83058 1.20398E-5 41529 0 1.59451E-5
4-178359918-C-G p.Cys163Ser missense AGA 1 83090 1.20351E-5 41545 0 0.00124204
4-178359924-C-T p.Arg161Gln missense AGA 1 83120 1.20308E-5 41560 0 0.00124196
4-178359925-G-A p.Arg161Trp missense AGA 15 83114 1.80475E-4 41557 0 0.0020141
4-178359960-G-C p.Thr149Ser missense AGA 80535 83064 0.969554 41532 39226 0.995625
4-178359970-A-C p.Leu146Val missense AGA 124 83100 0.00149218 41550 0 0.00504541
4-178359972-T-C p.Asp145Gly missense AGA 1 83084 1.2036E-5 41542 0 NA
4-178359978-T-C p.Asn143Ser missense AGA 3 83044 3.61254E-5 41522 0 5.83013E-5
4-178359995-T-C p.Gln137Gln synonymous AGA 1 82822 1.20741E-5 41411 0 3.97975E-6
4-178360015-G-A c.395-4C>T splice_region AGA 1 82190 1.21669E-5 41095 0 8.70413E-6
4-178360724-A-G c.394+6T>C splice_region AGA 2 83198 2.4039E-5 41599 0 3.97817E-6
4-178360734-C-G p.Glu130Asp missense AGA 3 83258 3.60326E-5 41629 0 8.239E-6
4-178360747-AGT-A p.Leu126fs frameshift AGA 1 83292 1.2006E-5 41646 0 7.95482E-6
4-178360748-G-C p.Leu126Val missense AGA 59 83294 7.08334E-4 41647 0 0.00251762
4-178360748-G-T p.Leu126Ile missense AGA 1 83294 1.20057E-5 41647 0 3.18573E-5
4-178360751-T-A p.Thr125Ser missense AGA 1 83292 1.2006E-5 41646 0 NA
4-178360777-C-T p.Arg116Gln missense AGA 1 83306 1.20039E-5 41653 0 1.64737E-5
4-178360804-C-T p.Arg107Gln missense AGA 2 83300 2.40096E-5 41650 0 6.37308E-5
4-178360811-G-T p.Leu105Ile missense AGA 651 83270 0.00781794 41635 4 0.0098118
4-178360813-TCTC-T p.Gly103del disruptive_inframe_deletion AGA 2 83282 2.40148E-5 41641 0 NA
4-178360816-C-A p.Gly103Val missense AGA 1 83282 1.20074E-5 41641 0 NA
4-178360820-C-T p.Val102Ile missense AGA 1 83270 1.20091E-5 41635 0 NA
4-178360821-T-A p.Ala101Ala synonymous AGA 55 83266 6.60534E-4 41633 1 0.00124156
4-178360830-A-G p.Asp98Asp synonymous AGA 1 83234 1.20143E-5 41617 0 NA
4-178360834-A-G p.Met97Thr missense AGA 2 83226 2.4031E-5 41613 0 7.95811E-6
4-178360838-T-A p.Thr96Ser missense AGA 4 83202 4.80758E-5 41601 0 2.86661E-4
4-178360848-A-G c.282-6T>C splice_region AGA 1 83130 1.20294E-5 41565 0 9.55657E-5
4-178361198-T-A n.544A>T splice_region AGA 1 43432 2.30245E-5 21716 0 NA
4-178361428-C-G p.Gly94Arg missense+splice_region AGA 5 83386 5.99621E-5 41693 0 1.64775E-5
4-178361432-C-T p.Met92Ile missense AGA 18 83384 2.15869E-4 41692 0 2.55405E-4
4-178361434-T-C p.Met92Val missense AGA 2 83388 2.39843E-5 41694 0 1.64777E-5
4-178361440-T-C p.Met90Val missense AGA 1 83388 1.19921E-5 41694 0 3.18878E-5
4-178361445-T-C p.Asp88Gly missense AGA 2 83396 2.3982E-5 41698 0 3.29544E-5
4-178361449-G-A p.Leu87Leu synonymous AGA 3 83394 3.59738E-5 41697 0 NA
4-178361466-T-A p.Glu81Val missense AGA 1 83392 1.19916E-5 41696 0 NA
4-178361484-A-C p.Phe75Cys missense AGA 1 83396 1.1991E-5 41698 0 3.97652E-6
4-178361490-A-G p.Val73Ala missense AGA 1 83394 1.19913E-5 41697 0 NA
4-178361498-G-C p.Asp70Glu missense AGA 1 83384 1.19927E-5 41692 0 NA
4-178361504-C-T p.Gln68Gln synonymous AGA 1 83386 1.19924E-5 41693 0 2.4715E-5
4-178361506-GCT-G p.Glu67fs frameshift AGA 2 83386 2.39848E-5 41693 0 3.18776E-5
4-178361511-C-G p.Arg66Thr missense AGA 3 83384 3.59781E-5 41692 0 8.23859E-6
4-178361520-A-G p.Met63Thr missense AGA 2 83380 2.39866E-5 41690 0 1.193E-5
4-178361528-G-C p.Gly60Gly synonymous AGA 1 83390 1.19918E-5 41695 0 8.23873E-6
4-178361538-A-G p.Val57Ala missense AGA 2 83384 2.39854E-5 41692 0 NA
4-178361541-G-A p.Ala56Val missense AGA 1 83384 1.19927E-5 41692 0 3.18674E-5
4-178361551-C-T p.Ala53Thr missense AGA 3 83378 3.59807E-5 41689 0 7.95475E-6
4-178361566-C-T p.Ala48Thr missense AGA 1 83370 1.19947E-5 41685 0 NA
4-178361573-C-T p.Arg45Arg synonymous AGA 1 83348 1.19979E-5 41674 0 3.18674E-5
4-178361579-C-A p.Ala43Ala splice_region+synonymous AGA 1 83306 1.20039E-5 41653 0 NA
4-178361580-G-A p.Ala43Val missense+splice_region AGA 2 83296 2.40108E-5 41648 0 NA
4-178361584-T-G c.128-4A>C splice_region AGA 1 83250 1.2012E-5 41625 0 7.96495E-6
4-178361585-T-TA c.128-6_128-5insT splice_region AGA 2 83252 2.40234E-5 41626 0 NA
4-178363398-C-A c.127+5G>T splice_region AGA 1 81482 1.22726E-5 40741 0 NA
4-178363400-C-T c.127+3G>A splice_region AGA 2 81572 2.45182E-5 40786 0 8.51484E-6
4-178363415-C-T p.Ala39Thr missense AGA 1 82082 1.21829E-5 41041 0 1.19904E-5
4-178363421-T-C p.Lys37Glu missense AGA 1 82310 1.21492E-5 41155 0 1.17461E-4
4-178363422-AAAGGGCC-A p.Trp34fs frameshift AGA 2 82356 2.42848E-5 41178 0 3.18837E-5
4-178363425-G-C p.Pro35Pro synonymous AGA 3 82404 3.6406E-5 41202 0 3.35048E-5
4-178363440-G-A p.Val30Val synonymous AGA 1 82636 1.21013E-5 41318 0 1.66822E-5
4-178363455-G-A p.Ser25Ser synonymous AGA 1 82788 1.2079E-5 41394 0 3.18613E-5
4-178363458-G-C p.Ser24Ser synonymous AGA 1 82850 1.207E-5 41425 0 NA
4-178363460-A-G p.Ser24Pro missense AGA 2 82842 2.41423E-5 41421 0 NA
4-178363465-C-T p.Arg22His missense AGA 1 82850 1.207E-5 41425 0 NA
4-178363468-A-G p.Val21Ala missense AGA 1 82896 1.20633E-5 41448 0 NA
4-178363470-T-C p.Leu20Leu synonymous AGA 171 82920 0.00206223 41460 3 0.00420784
4-178363481-A-G p.Cys17Arg missense AGA 2 82994 2.40981E-5 41497 0 NA
4-178363485-C-G p.Leu15Leu synonymous AGA 1 82990 1.20496E-5 41495 0 NA
4-178363487-G-C p.Leu15Val missense AGA 1 82990 1.20496E-5 41495 0 NA
4-178363487-G-A p.Leu15Leu synonymous AGA 1 82990 1.20496E-5 41495 0 3.18695E-5
4-178363492-G-A p.Pro13Leu missense AGA 1 83022 1.2045E-5 41511 0 8.30482E-6
4-178363496-C-A p.Val12Leu missense AGA 1734 82978 0.0208971 41489 19 0.0206445
4-178363496-C-G p.Val12Leu missense AGA 1 83010 1.20467E-5 41505 0 6.37633E-5
4-178363497-G-A p.Leu11Leu synonymous AGA 2 83022 2.409E-5 41511 0 1.66072E-5
4-178363502-G-C p.Leu10Val missense AGA 1 83050 1.20409E-5 41525 0 1.99076E-5
4-178363502-G-A p.Leu10Phe missense AGA 2 83050 2.40819E-5 41525 0 2.49149E-5
4-178363503-C-A p.Val9Val synonymous AGA 3 83040 3.61272E-5 41520 0 2.3889E-5
4-178363506-A-G p.Pro8Pro synonymous AGA 5 83052 6.02032E-5 41526 0 0.0020141
4-178363509-C-A p.Leu7Phe missense AGA 1 83030 1.20438E-5 41515 0 3.32281E-5
4-178363516-G-A p.Ser5Leu missense AGA 1 82974 1.2052E-5 41487 0 8.31158E-6
4-178363520-T-G p.Lys4Gln missense AGA 40 82918 4.82404E-4 41459 0 0.001371
4-178363523-G-C p.Arg3Gly missense AGA 1 82900 1.20627E-5 41450 0 NA
4-178363529-T-C p.Met1? start_lost AGA 2 82882 2.41307E-5 41441 0 NA
4-178363557-G-C c.-28C>G 5_prime_UTR_premature_start_codon_gain AGA 1 82292 1.21518E-5 41146 0 NA
4-178363567-G-A c.-38C>T 5_prime_UTR_premature_start_codon_gain AGA 2 81952 2.44045E-5 40976 0 8.49719E-6
4-178363584-G-A c.-55C>T 5_prime_UTR_premature_start_codon_gain AGA 2 81012 2.46877E-5 40506 0 NA
4-178363606-C-A c.-77G>T 5_prime_UTR_premature_start_codon_gain AGA 1 79702 1.25467E-5 39851 0 NA