Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
8-6357174-T-C c.*3448A>G splice_region ANGPT2 2 49364 4.05154E-5 24682 0 NA
8-6357196-A-G c.*3426T>C splice_region ANGPT2 1 58530 1.70853E-5 29265 0 9.55536E-5
8-6357196-A-C c.*3426T>G splice_region ANGPT2 1 58532 1.70847E-5 29266 0 NA
8-6357197-T-C c.*3425A>G splice_region ANGPT2 16 58810 2.72063E-4 29405 0 6.37064E-5
8-6360627-A-T p.Phe496Ile missense ANGPT2 2 83384 2.39854E-5 41692 0 NA
8-6360639-G-A p.Arg492* stop_gained ANGPT2 3 83396 3.59729E-5 41698 0 8.24049E-6
8-6360645-T-G p.Met490Leu missense ANGPT2 2 83400 2.39808E-5 41700 0 3.18471E-5
8-6360649-G-A p.Thr488Thr synonymous ANGPT2 4 83394 4.79651E-5 41697 0 3.97674E-6
8-6360649-G-C p.Thr488Thr synonymous ANGPT2 1 83394 1.19913E-5 41697 0 NA
8-6360652-T-A p.Thr487Thr synonymous ANGPT2 1 83398 1.19907E-5 41699 0 NA
8-6360652-T-C p.Thr487Thr synonymous ANGPT2 1 83398 1.19907E-5 41699 0 NA
8-6360664-C-T p.Ser483Ser synonymous ANGPT2 4 83390 4.79674E-5 41695 0 5.76644E-5
8-6360676-G-C p.Gly479Gly synonymous ANGPT2 3 83390 3.59755E-5 41695 0 3.97741E-6
8-6360700-G-A p.Gly471Gly synonymous ANGPT2 12 83372 1.43933E-4 41686 0 1.59236E-4
8-6360703-G-A p.Asn470Asn synonymous ANGPT2 2 83372 2.39889E-5 41686 0 3.98213E-6
8-6360704-T-C p.Asn470Ser missense ANGPT2 1 83372 1.19944E-5 41686 0 NA
8-6360706-G-A p.Phe469Phe synonymous ANGPT2 1 83370 1.19947E-5 41685 0 NA
8-6360713-T-A p.Asn467Ile missense ANGPT2 2 83360 2.39923E-5 41680 0 NA
8-6360713-T-C p.Asn467Ser missense ANGPT2 1 83360 1.19962E-5 41680 0 8.23927E-6
8-6360715-T-G p.Thr466Thr synonymous ANGPT2 7 83356 8.39772E-5 41678 0 2.07193E-4
8-6360721-C-A p.Gln464His missense ANGPT2 1 83342 1.19988E-5 41671 0 3.98708E-5
8-6360727-C-T p.Gln462Gln synonymous ANGPT2 2 83332 2.40004E-5 41666 0 7.9776E-6
8-6360731-G-A p.Pro461Leu missense ANGPT2 1 83316 1.20025E-5 41658 0 NA
8-6360743-C-G p.Gly457Ala missense ANGPT2 1 83298 1.20051E-5 41649 0 NA
8-6360784-T-C c.1331-2A>G splice_acceptor ANGPT2 1 83140 1.20279E-5 41570 0 NA
8-6360789-A-G c.1331-7T>C splice_region ANGPT2 5 83086 6.01786E-5 41543 0 1.657E-5
8-6366400-C-G p.Ter460Tyrext*? stop_lost ANGPT2 1 83220 1.20163E-5 41610 0 3.98769E-6
8-6366401-T-G p.Ter460Serext*? stop_lost ANGPT2 1 83220 1.20163E-5 41610 0 3.98667E-5
8-6366401-T-C p.Ter460Trpext*? stop_lost ANGPT2 1 83220 1.20163E-5 41610 0 8.2447E-6
8-6366402-A-G p.Ter460Glnext*? stop_lost ANGPT2 2 83218 2.40333E-5 41609 0 1.64889E-5
8-6366402-A-C p.Ter460Gluext*? stop_lost ANGPT2 1 83218 1.20166E-5 41609 0 NA
8-6366412-T-G p.Gly456Gly synonymous ANGPT2 1 83246 1.20126E-5 41623 0 3.9827E-6
8-6366424-C-G p.Leu452Phe missense ANGPT2 2 83254 2.40229E-5 41627 0 NA
8-6366426-A-G p.Leu452Leu synonymous ANGPT2 3 83262 3.60308E-5 41631 0 3.18451E-5
8-6366436-C-G p.Leu448Leu synonymous ANGPT2 1 83272 1.20088E-5 41636 0 8.239E-6
8-6366437-A-G p.Leu448Pro missense ANGPT2 1 83272 1.20088E-5 41636 0 3.1841E-5
8-6366456-C-G p.Gly443Arg missense ANGPT2 2 83286 2.40136E-5 41643 0 NA
8-6366493-G-A p.Asn430Asn synonymous ANGPT2 1 83316 1.20025E-5 41658 0 6.37227E-5
8-6366520-A-G p.Asn421Asn synonymous ANGPT2 1 83334 1.19999E-5 41667 0 3.97652E-6
8-6366542-C-T p.Ser414Asn missense ANGPT2 1 83348 1.19979E-5 41674 0 NA
8-6366553-G-C p.Ala410Ala synonymous ANGPT2 4 83344 4.79939E-5 41672 0 1.27494E-4
8-6366553-G-A p.Ala410Ala synonymous ANGPT2 1 83344 1.19985E-5 41672 0 3.18735E-5
8-6366563-G-A p.Thr407Ile missense ANGPT2 1 83340 1.1999E-5 41670 0 3.18593E-5
8-6366567-G-A p.Leu406Phe missense ANGPT2 1 83334 1.19999E-5 41667 0 NA
8-6366568-T-C p.Gly405Gly synonymous ANGPT2 3 83332 3.60006E-5 41666 0 9.55779E-5
8-6366569-C-T p.Gly405Glu missense ANGPT2 1 83332 1.20002E-5 41666 0 2.3869E-5
8-6366570-C-G p.Gly405Arg missense ANGPT2 1 83336 1.19996E-5 41668 0 3.97852E-6
8-6366574-A-G p.Leu403Leu synonymous ANGPT2 108 83330 0.00129605 41665 2 0.00673259
8-6366576-G-C p.Leu403Val missense ANGPT2 1 83336 1.19996E-5 41668 0 1.19371E-5
8-6366577-G-A p.His402His synonymous ANGPT2 1 83338 1.19993E-5 41669 0 3.97934E-6
8-6366591-C-T c.1200-8G>A splice_region ANGPT2 30 83326 3.60032E-4 41663 0 7.65843E-4
8-6371215-C-T p.Glu395Lys missense ANGPT2 1 83272 1.20088E-5 41636 0 8.2802E-6
8-6371216-A-G p.Ser394Ser synonymous ANGPT2 1 83274 1.20085E-5 41637 0 NA
8-6371218-T-C p.Ser394Gly missense ANGPT2 1 83276 1.20083E-5 41638 0 NA
8-6371226-T-G p.Tyr391Ser missense ANGPT2 1 83298 1.20051E-5 41649 0 1.65131E-5
8-6371235-T-G p.Glu388Ala missense ANGPT2 1 83306 1.20039E-5 41653 0 2.47496E-5
8-6371237-A-G p.Tyr387Tyr synonymous ANGPT2 1 83312 1.20031E-5 41656 0 NA
8-6371238-T-A p.Tyr387Phe missense ANGPT2 8 83312 9.60246E-5 41656 0 3.18431E-5
8-6371240-C-G p.Leu386Phe missense ANGPT2 226 83312 0.00271269 41656 0 0.0021343
8-6371247-T-A p.Tyr384Phe missense ANGPT2 2 83320 2.40038E-5 41660 0 6.25E-4
8-6371251-C-T p.Ala383Thr missense ANGPT2 1 83338 1.19993E-5 41669 0 1.64864E-5
8-6371251-C-G p.Ala383Pro missense ANGPT2 1 83338 1.19993E-5 41669 0 NA
8-6371254-C-G p.Glu382Gln missense ANGPT2 1 83346 1.19982E-5 41673 0 NA
8-6371284-T-G p.Lys372Gln missense ANGPT2 1 83364 1.19956E-5 41682 0 8.23927E-6
8-6371291-A-G p.Tyr369Tyr synonymous ANGPT2 7250 83256 0.0870808 41628 634 0.121623
8-6371295-C-T p.Arg368His missense ANGPT2 1 83364 1.19956E-5 41682 0 2.38739E-5
8-6371299-G-C p.Gln367Glu missense ANGPT2 1 83366 1.19953E-5 41683 0 NA
8-6371303-A-G p.Asn365Asn synonymous ANGPT2 4482 83298 0.0538068 41649 117 0.0639857
8-6371305-TAGTC-T p.Thr364fs frameshift ANGPT2 1 83370 1.19947E-5 41685 0 3.97918E-6
8-6371305-T-A p.Asn365Tyr missense ANGPT2 1 83370 1.19947E-5 41685 0 8.2394E-6
8-6371311-G-T p.Leu363Met missense ANGPT2 1 83362 1.19959E-5 41681 0 3.98089E-6
8-6371315-C-T p.Ser361Ser synonymous ANGPT2 6 83366 7.19718E-5 41683 0 0.00100705
8-6371316-G-C p.Ser361Trp missense ANGPT2 2 83366 2.39906E-5 41683 0 1.19451E-5
8-6371339-A-G p.Tyr353Tyr synonymous ANGPT2 1 83352 1.19973E-5 41676 0 3.30546E-5
8-6371342-T-C p.Glu352Glu synonymous ANGPT2 1 83354 1.1997E-5 41677 0 NA
8-6371346-C-T p.Gly351Glu missense ANGPT2 4 83346 4.79927E-5 41673 0 1.65566E-5
8-6371373-G-A c.1033-8C>T splice_region ANGPT2 1 83272 1.20088E-5 41636 0 8.40788E-6
8-6372193-C-G c.1032+5G>C splice_region ANGPT2 2 83360 2.39923E-5 41680 0 NA
8-6372195-T-C c.1032+3A>G splice_region ANGPT2 7 83362 8.39711E-5 41681 0 6.36943E-5
8-6372203-T-C p.Lys343Glu missense ANGPT2 1 83376 1.19939E-5 41688 0 NA
8-6372212-T-C p.Lys340Glu missense ANGPT2 1 83382 1.1993E-5 41691 0 9.55414E-5
8-6372232-A-G p.Val333Ala missense ANGPT2 1 83396 1.1991E-5 41698 0 8.23832E-6
8-6372233-C-T p.Val333Ile missense ANGPT2 224 83392 0.00268611 41696 2 0.00519141
8-6372234-G-A p.Ser332Ser synonymous ANGPT2 4 83388 4.79685E-5 41694 0 4.77209E-5
8-6372235-C-T p.Ser332Asn missense ANGPT2 2 83396 2.3982E-5 41698 0 3.97649E-6
8-6372242-C-T p.Asp330Asn missense ANGPT2 1 83388 1.19921E-5 41694 0 3.97652E-6
8-6372244-T-A p.Glu329Val missense ANGPT2 10 83386 1.19924E-4 41693 0 3.37765E-4
8-6372250-C-T p.Arg327Gln missense ANGPT2 2 83382 2.3986E-5 41691 0 4.11902E-5
8-6372250-C-A p.Arg327Leu missense ANGPT2 2 83382 2.3986E-5 41691 0 3.97643E-6
8-6372267-C-T p.Gly321Gly synonymous ANGPT2 3 83374 3.59824E-5 41687 0 8.23981E-6
8-6372269-C-G p.Gly321Arg missense ANGPT2 2 83378 2.39871E-5 41689 0 NA
8-6372270-G-A p.Gly320Gly synonymous ANGPT2 5 83376 5.99693E-5 41688 0 1.15363E-4
8-6372272-C-T p.Gly320Ser missense ANGPT2 1 83376 1.19939E-5 41688 0 NA
8-6372272-C-G p.Gly320Arg missense ANGPT2 1 83376 1.19939E-5 41688 0 NA
8-6372277-C-T p.Gly318Glu missense ANGPT2 1 83372 1.19944E-5 41686 0 NA
8-6372278-C-T p.Gly318Arg missense ANGPT2 1 83370 1.19947E-5 41685 0 1.19301E-5
8-6372298-G-A p.Ala311Val missense+splice_region ANGPT2 248 83290 0.00297755 41645 1 0.00625
8-6372307-C-A c.931-8G>T splice_region ANGPT2 2 83278 2.40159E-5 41639 0 3.97943E-6
8-6377380-C-A c.930+5G>T splice_region ANGPT2 1 83298 1.20051E-5 41649 0 NA
8-6377388-G-A p.Ile309Ile synonymous ANGPT2 3 83318 3.60066E-5 41659 0 4.94902E-5
8-6377403-A-T p.Asn304Lys missense ANGPT2 8 83348 9.59831E-5 41674 0 0.001875
8-6377415-T-C p.Leu300Leu synonymous ANGPT2 1 83352 1.19973E-5 41676 0 NA
8-6377419-G-A p.Thr299Met missense ANGPT2 17 83354 2.03949E-4 41677 1 2.54712E-4
8-6377419-G-C p.Thr299Arg missense ANGPT2 2 83354 2.3994E-5 41677 0 3.1839E-5
8-6377424-G-C p.Ile297Met missense ANGPT2 2 83352 2.39946E-5 41676 0 3.18221E-5
8-6377430-A-G p.Asn295Asn synonymous ANGPT2 56 83354 6.71833E-4 41677 1 0.00625
8-6377432-T-C p.Asn295Asp missense ANGPT2 1 83350 1.19976E-5 41675 0 1.31787E-4
8-6377433-C-T p.Thr294Thr synonymous ANGPT2 23710 83098 0.285326 41549 3812 0.333125
8-6377434-G-A p.Thr294Met missense ANGPT2 2 83354 2.3994E-5 41677 0 2.78434E-5
8-6377441-G-A p.His292Tyr missense ANGPT2 3 83356 3.59902E-5 41678 0 4.11821E-5
8-6377444-C-T p.Gly291Arg missense ANGPT2 1 83356 1.19967E-5 41678 0 3.29457E-5
8-6377457-T-A p.Glu286Asp missense ANGPT2 3 83346 3.59945E-5 41673 0 3.1835E-5
8-6377463-A-G p.Cys284Cys synonymous ANGPT2 1 83344 1.19985E-5 41672 0 NA
8-6377483-G-T p.Gln278Lys missense ANGPT2 2 83334 2.39998E-5 41667 0 NA
8-6377485-T-C p.Glu277Gly missense ANGPT2 2 83326 2.40021E-5 41663 0 5.03525E-4
8-6377495-C-T p.Ala274Thr missense ANGPT2 4 83308 4.80146E-5 41654 0 1.2738E-4
8-6377506-T-A p.Asp270Val missense ANGPT2 1 83312 1.20031E-5 41656 0 NA
8-6377507-C-G p.Asp270His missense ANGPT2 107 83312 0.00128433 41656 0 0.00191481
8-6377520-T-A c.800-5A>T splice_region ANGPT2 1 83266 1.20097E-5 41633 0 3.18715E-5
8-6377520-T-TA c.800-6_800-5insT splice_region ANGPT2 2 83266 2.40194E-5 41633 1 NA
8-6378691-A-G c.799+8T>C splice_region ANGPT2 4853 82812 0.0586026 41406 124 0.0741685
8-6378694-C-G c.799+5G>C splice_region ANGPT2 1 82998 1.20485E-5 41499 0 NA
8-6378707-G-A p.Thr264Ile missense ANGPT2 1 83098 1.2034E-5 41549 0 2.22916E-4
8-6378713-A-G p.Met262Thr missense ANGPT2 2 83112 2.40639E-5 41556 0 9.5511E-5
8-6378716-A-G p.Met261Thr missense ANGPT2 1 83124 1.20302E-5 41562 0 3.1839E-5
8-6378720-T-A p.Thr260Ser missense ANGPT2 113 83126 0.00135938 41563 1 0.0031839
8-6378728-T-A p.Asn257Ile missense ANGPT2 8 83144 9.62186E-5 41572 0 3.22314E-4
8-6378742-C-T p.Met252Ile missense ANGPT2 4 83186 4.8085E-5 41593 0 6.37105E-5
8-6378752-T-C p.His249Arg missense ANGPT2 2 83194 2.40402E-5 41597 0 8.23886E-6
8-6378763-C-T p.Gln245Gln synonymous ANGPT2 30460 82884 0.367502 41442 5733 0.441875
8-6378771-C-G p.Val243Leu missense ANGPT2 1 83198 1.20195E-5 41599 0 1.59129E-5
8-6378780-T-C p.Asn240Asp missense ANGPT2 1 83192 1.20204E-5 41596 0 8.23818E-6
8-6378784-C-A p.Thr238Thr synonymous ANGPT2 5644 83114 0.0679067 41557 204 0.0727174
8-6378784-C-T p.Thr238Thr synonymous ANGPT2 44 83192 5.28897E-4 41596 0 0.00121143
8-6378785-G-A p.Thr238Met missense ANGPT2 1 83198 1.20195E-5 41599 0 4.11929E-5
8-6378793-C-A p.Val235Val synonymous ANGPT2 1 83200 1.20192E-5 41600 0 6.5912E-5
8-6378794-A-G p.Val235Ala missense ANGPT2 7 83202 8.41326E-5 41601 0 7.90905E-4
8-6378796-T-A p.Ile234Ile synonymous ANGPT2 2 83204 2.40373E-5 41602 0 8.23913E-6
8-6378797-AT-A p.Ile234fs frameshift ANGPT2 1 83202 1.20189E-5 41601 0 1.653E-5
8-6378797-A-T p.Ile234Lys missense ANGPT2 1 83204 1.20187E-5 41602 0 NA
8-6378798-T-A p.Ile234Leu missense ANGPT2 1 83202 1.20189E-5 41601 0 3.2196E-5
8-6378805-T-C p.Glu231Glu synonymous ANGPT2 7 83204 8.41306E-5 41602 0 1.59195E-4
8-6378812-T-G p.Glu229Ala missense ANGPT2 1 83192 1.20204E-5 41596 0 NA
8-6378814-T-G p.Glu228Asp missense ANGPT2 1 83188 1.2021E-5 41594 0 NA
8-6378818-A-G p.Ile227Thr missense ANGPT2 1 83178 1.20224E-5 41589 0 3.29598E-5
8-6378831-G-T p.Gln223Lys missense ANGPT2 1 83170 1.20236E-5 41585 0 NA
8-6378847-C-T p.Gln217Gln synonymous ANGPT2 1 83156 1.20256E-5 41578 0 NA
8-6378850-T-C p.Leu216Leu synonymous ANGPT2 1 83158 1.20253E-5 41579 0 5.03525E-4
8-6378867-C-G p.Glu211Gln missense ANGPT2 1 83154 1.20259E-5 41577 0 NA
8-6378883-T-A p.Gln205His missense ANGPT2 2 83158 2.40506E-5 41579 0 NA
8-6378887-A-G p.Ile204Thr missense ANGPT2 3 83156 3.60768E-5 41578 0 7.96565E-6
8-6378896-T-C p.Lys201Arg missense ANGPT2 2 83148 2.40535E-5 41574 0 2.78853E-5
8-6378899-T-G p.Asp200Ala missense ANGPT2 1 83148 1.20267E-5 41574 0 3.98362E-6
8-6378903-C-G p.Glu199Gln missense ANGPT2 1 83144 1.20273E-5 41572 0 NA
8-6378911-A-C p.Leu196Arg missense ANGPT2 1 83120 1.20308E-5 41560 0 4.00311E-6
8-6378913-C-T p.Val195Val synonymous ANGPT2 3 83114 3.6095E-5 41557 0 NA
8-6378918-T-G p.Lys194Gln missense ANGPT2 1 83098 1.2034E-5 41549 0 4.02405E-6
8-6378919-C-G p.Lys193Asn missense ANGPT2 2 83094 2.40691E-5 41547 0 6.37146E-5
8-6378939-G-A c.567-8C>T splice_region ANGPT2 1 82914 1.20607E-5 41457 0 8.73897E-6
8-6385084-A-G p.Asp186Asp synonymous ANGPT2 1 83278 1.2008E-5 41639 0 9.56023E-5
8-6385085-T-A p.Asp186Val missense ANGPT2 1 83280 1.20077E-5 41640 0 3.97915E-6
8-6385131-C-G p.Glu171Gln missense ANGPT2 2 83338 2.39987E-5 41669 0 NA
8-6385142-G-C p.Thr167Arg missense ANGPT2 1 83334 1.19999E-5 41667 0 1.27535E-4
8-6385144-C-G p.Ser166Ser synonymous ANGPT2 17 83334 2.03998E-4 41667 0 6.0579E-4
8-6385144-C-T p.Ser166Ser synonymous ANGPT2 1 83336 1.19996E-5 41668 0 8.24851E-6
8-6385145-G-A p.Ser166Leu missense ANGPT2 3 83338 3.5998E-5 41669 0 8.24865E-6
8-6385147-G-T p.Leu165Leu synonymous ANGPT2 1 83338 1.19993E-5 41669 0 NA
8-6385149-G-C p.Leu165Val missense ANGPT2 1 83338 1.19993E-5 41669 0 8.24919E-6
8-6385150-G-A p.Ser164Ser synonymous ANGPT2 56 83338 6.71962E-4 41669 0 0.00149767
8-6385161-A-G p.Leu161Leu synonymous ANGPT2 5 83328 6.00038E-5 41664 0 9.55049E-5
8-6385167-G-C p.Gln159Glu missense ANGPT2 3 83324 3.6004E-5 41662 0 3.97735E-5
8-6385170-G-T p.Leu158Ile missense ANGPT2 2 83320 2.40038E-5 41660 0 3.18471E-5
8-6385173-C-G p.Glu157Gln missense ANGPT2 1 83324 1.20013E-5 41662 0 6.61244E-5
8-6385180-C-T p.Thr154Thr synonymous ANGPT2 357 83306 0.00428541 41653 6 0.00962335
8-6385181-G-A p.Thr154Met missense ANGPT2 6 83310 7.20202E-5 41655 0 4.14285E-5
8-6385187-T-A p.Gln152Leu missense ANGPT2 1 83286 1.20068E-5 41643 0 NA
8-6385194-A-G p.Leu150Leu synonymous ANGPT2 2 83262 2.40206E-5 41631 0 3.18451E-5
8-6389849-T-G c.444+4A>C splice_region ANGPT2 2 83376 2.39877E-5 41688 0 1.19317E-5
8-6389851-A-C c.444+2T>G splice_donor ANGPT2 1 83376 1.19939E-5 41688 0 NA
8-6389865-A-G p.Asp144Asp synonymous ANGPT2 1 83390 1.19918E-5 41695 0 NA
8-6389877-C-G p.Arg140Arg synonymous ANGPT2 1 83392 1.19916E-5 41696 0 NA
8-6389879-G-A p.Arg140Trp missense ANGPT2 1 83394 1.19913E-5 41697 0 3.97703E-6
8-6389880-C-T p.Thr139Thr synonymous ANGPT2 3 83390 3.59755E-5 41695 0 3.19061E-5
8-6389881-G-A p.Thr139Met missense ANGPT2 1 83392 1.19916E-5 41696 0 1.64731E-5
8-6389889-C-A p.Ala136Ala synonymous ANGPT2 26304 83212 0.316108 41606 4293 0.543744
8-6389889-C-G p.Ala136Ala synonymous ANGPT2 24656 83194 0.296368 41597 3767 0.52544
8-6389889-C-T p.Ala136Ala synonymous ANGPT2 1 83396 1.1991E-5 41698 0 8.23737E-6
8-6389896-T-C p.Gln134Arg missense ANGPT2 1 83400 1.19904E-5 41700 0 NA
8-6389916-T-G p.Ile127Ile synonymous ANGPT2 5 83394 5.99564E-5 41697 0 6.25E-4
8-6389923-A-G p.Ile125Thr missense ANGPT2 22 83396 2.63802E-4 41698 0 5.35402E-4
8-6389934-C-T p.Thr121Thr synonymous ANGPT2 1 83388 1.19921E-5 41694 0 2.47117E-5
8-6389948-C-G p.Val117Leu missense ANGPT2 1 83390 1.19918E-5 41695 0 NA
8-6389964-CTC-TTT p.Glu111Lys missense ANGPT2 1 83384 1.19927E-5 41692 0 NA
8-6389983-A-G p.Met105Thr missense ANGPT2 1 83368 1.1995E-5 41684 0 NA
8-6389988-G-A p.Asp103Asp synonymous ANGPT2 1 83352 1.19973E-5 41676 0 3.98975E-6
8-6389998-T-A p.Tyr100Phe missense ANGPT2 10 83338 1.19993E-4 41669 0 8.40693E-5
8-6390006-A-G p.Leu97Leu splice_region+synonymous ANGPT2 3 83324 3.6004E-5 41662 0 NA
8-6390015-A-G c.289-7T>C splice_region ANGPT2 4 83284 4.80284E-5 41642 0 3.19E-5
8-6420164-C-T c.288+4G>A splice_region ANGPT2 2 80730 2.47739E-5 40365 0 8.80158E-6
8-6420164-C-A c.288+4G>T splice_region ANGPT2 3 80730 3.71609E-5 40365 0 NA
8-6420173-T-C p.Met95Val missense ANGPT2 1 81880 1.2213E-5 40940 0 NA
8-6420199-A-T p.Ile86Asn missense ANGPT2 1 83094 1.20346E-5 41547 0 8.34418E-6
8-6420200-T-A p.Ile86Phe missense ANGPT2 2 83130 2.40587E-5 41565 0 6.40164E-5
8-6420228-C-CG p.Val77fs frameshift ANGPT2 1 83274 1.20085E-5 41637 0 NA
8-6420237-G-A p.Tyr73Tyr synonymous ANGPT2 1 83300 1.20048E-5 41650 0 1.59094E-5
8-6420243-G-T p.Leu71Leu synonymous ANGPT2 1 83310 1.20034E-5 41655 0 3.21688E-5
8-6420243-G-A p.Leu71Leu synonymous ANGPT2 1 83310 1.20034E-5 41655 0 8.24307E-6
8-6420244-A-G p.Leu71Pro missense ANGPT2 4 83318 4.80088E-5 41659 0 2.78374E-5
8-6420246-C-A p.Pro70Pro synonymous ANGPT2 3 83314 3.60084E-5 41657 0 3.9769E-6
8-6420247-G-T p.Pro70Gln missense ANGPT2 2 83308 2.40073E-5 41654 0 NA
8-6420251-C-T p.Ala69Thr missense ANGPT2 1 83316 1.20025E-5 41658 0 3.97674E-6
8-6420275-C-G p.Val61Leu missense ANGPT2 2 83354 2.3994E-5 41677 0 5.76606E-5
8-6420276-G-A p.Tyr60Tyr synonymous ANGPT2 1 83348 1.19979E-5 41674 0 2.47113E-5
8-6420283-C-A p.Ser58Ile missense ANGPT2 1 83354 1.1997E-5 41677 0 NA
8-6420297-G-A p.Cys53Cys synonymous ANGPT2 3 83356 3.59902E-5 41678 0 0.00100705
8-6420300-G-A p.Asn52Asn synonymous ANGPT2 1 83364 1.19956E-5 41682 0 4.11868E-5
8-6420303-G-C p.Asp51Glu missense ANGPT2 1 83368 1.1995E-5 41684 0 NA
8-6420304-T-C p.Asp51Gly missense ANGPT2 1 83368 1.1995E-5 41684 0 NA
8-6420337-G-T p.Ser40Tyr missense ANGPT2 1 83366 1.19953E-5 41683 0 NA
8-6420338-A-C p.Ser40Ala missense ANGPT2 1 83360 1.19962E-5 41680 0 3.97627E-6
8-6420354-A-G p.Tyr34Tyr synonymous ANGPT2 1 83360 1.19962E-5 41680 0 1.6481E-5
8-6420356-A-G p.Tyr34His missense ANGPT2 3 83358 3.59893E-5 41679 0 2.47219E-5
8-6420360-C-T p.Lys32Lys synonymous ANGPT2 516 83342 0.00619136 41671 11 0.0118226
8-6420370-A-G p.Ile29Thr missense ANGPT2 2 83334 2.39998E-5 41667 0 3.97674E-6
8-6420387-C-T p.Arg23Arg synonymous ANGPT2 1 83316 1.20025E-5 41658 0 1.59101E-5
8-6420388-C-G p.Arg23Pro missense ANGPT2 7 83312 8.40215E-5 41656 0 NA
8-6420402-G-C p.Ala18Ala synonymous ANGPT2 4 83292 4.80238E-5 41646 0 6.38366E-5
8-6420408-G-A p.Ala16Ala synonymous ANGPT2 3 83264 3.603E-5 41632 0 0.00100705
8-6420409-G-A p.Ala16Val missense ANGPT2 3 83254 3.60343E-5 41627 0 NA
8-6420414-G-A p.Val14Val synonymous ANGPT2 1 83248 1.20123E-5 41624 0 8.31283E-6
8-6420419-G-A p.Leu13Phe missense ANGPT2 2 83220 2.40327E-5 41610 0 3.98343E-6
8-6420421-T-A p.Asp12Val missense ANGPT2 1 83220 1.20163E-5 41610 0 NA
8-6420429-C-T p.Leu9Leu synonymous ANGPT2 1 83142 1.20276E-5 41571 0 3.18857E-5
8-6420431-G-T p.Leu9Met missense ANGPT2 1 83104 1.20331E-5 41552 0 3.18979E-5
8-6420432-A-G p.Thr8Thr synonymous ANGPT2 2 83086 2.40714E-5 41543 0 NA
8-6420468-A-C c.-13T>G 5_prime_UTR_premature_start_codon_gain ANGPT2 8 82190 9.73354E-5 41095 1 1.59368E-4
8-6420506-C-T c.-51G>A 5_prime_UTR_premature_start_codon_gain ANGPT2 2 81134 2.46506E-5 40567 0 NA
8-6420507-G-A c.-52C>T 5_prime_UTR_premature_start_codon_gain ANGPT2 2 81090 2.4664E-5 40545 0 2.78123E-5
8-6420519-G-A c.-64C>T 5_prime_UTR_premature_start_codon_gain ANGPT2 2 80298 2.49072E-5 40149 0 3.18431E-5
8-6420530-G-A c.-75C>T 5_prime_UTR_premature_start_codon_gain ANGPT2 2 79762 2.50746E-5 39881 0 3.18552E-5
8-6420570-G-A c.-115C>T 5_prime_UTR_premature_start_codon_gain ANGPT2 223 75546 0.00295184 37773 0 0.00694444
8-6420574-A-G c.-119T>C 5_prime_UTR_premature_start_codon_gain ANGPT2 7645 73628 0.103833 36814 48 0.109939
8-6420603-G-A c.-148C>T 5_prime_UTR_premature_start_codon_gain ANGPT2 2 64660 3.0931E-5 32330 0 NA
8-6420658-G-T c.-203C>A 5_prime_UTR_premature_start_codon_gain ANGPT2 1 38198 2.61794E-5 19099 0 NA
8-6420665-G-A c.-210C>T 5_prime_UTR_premature_start_codon_gain ANGPT2 1 35658 2.80442E-5 17829 0 9.5511E-5
8-6420719-G-A c.-264C>T 5_prime_UTR_premature_start_codon_gain ANGPT2 1 17154 5.82954E-5 8577 0 3.1839E-5
8-6420726-C-T c.-271G>A 5_prime_UTR_premature_start_codon_gain ANGPT2 3 14678 2.04388E-4 7339 0 2.54745E-4
8-6420727-G-A c.-272C>T 5_prime_UTR_premature_start_codon_gain ANGPT2 1 14478 6.90703E-5 7239 0 6.37105E-5