Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-223725676-G-T c.-507G>T 5_prime_UTR_premature_start_codon_gain ACSL3 10 26 0.384615 13 1 0.359286
2-223725978-T-TTTTGACACAAGGGCGCATATCTTCAAAGCACCTA c.-207+2_-207+3insTTTGACACAAGGGCGCATATCTTCAAAGCACCTA splice_region ACSL3 2 54 0.037037 27 1 NA
2-223752542-TG-T c.-206-5delG splice_region ACSL3 35 2940 0.0119048 1470 0 0.00879205
2-223765491-C-T c.-48C>T 5_prime_UTR_premature_start_codon_gain ACSL3 961 2948 0.325984 1474 167 0.304136
2-223765498-G-GATTCTCGCTGAAGTCT c.-41_-41+1insATTCTCGCTGAAGTCT splice_donor ACSL3 2 2956 6.7659E-4 1478 1 NA
2-223773441-TTCC-T c.-40-9_-40-7delTCC splice_region ACSL3 1 81186 1.23174E-5 40593 0 1.68722E-5
2-223773456-C-T c.-35C>T 5_prime_UTR_premature_start_codon_gain ACSL3 5 82160 6.08569E-5 41080 0 6.37146E-5
2-223773481-TTGAGTACTTA-T p.Met1fs frameshift ACSL3 1 82644 1.21001E-5 41322 0 NA
2-223773491-A-G p.Met1? start_lost ACSL3 8 82758 9.66674E-5 41379 0 1.27413E-4
2-223773499-C-A p.Asn3Lys missense ACSL3 1 82834 1.20723E-5 41417 0 NA
2-223773500-C-T p.His4Tyr missense ACSL3 2 82844 2.41418E-5 41422 0 8.64259E-6
2-223773502-C-T p.His4His synonymous ACSL3 1 82862 1.20683E-5 41431 0 6.3678E-5
2-223773505-G-A p.Val5Val synonymous ACSL3 5 82864 6.03398E-5 41432 0 5.04032E-4
2-223773515-C-T p.Pro9Ser missense ACSL3 1 82878 1.20659E-5 41439 0 NA
2-223773517-A-G p.Pro9Pro synonymous ACSL3 3 82892 3.61917E-5 41446 0 8.38842E-6
2-223773523-C-T p.Thr11Thr synonymous ACSL3 600 82832 0.00724358 41416 7 0.0120968
2-223773524-A-G p.Met12Val missense ACSL3 1 82878 1.20659E-5 41439 0 3.1839E-5
2-223773540-C-A p.Thr17Asn missense ACSL3 1 82860 1.20685E-5 41430 0 NA
2-223773541-C-T p.Thr17Thr synonymous ACSL3 7 82872 8.44676E-5 41436 0 6.70477E-5
2-223773542-A-G p.Ile18Val missense ACSL3 12 82864 1.44816E-4 41432 0 9.55171E-5
2-223773545-A-C p.Asn19His missense ACSL3 1 82870 1.20671E-5 41435 0 NA
2-223773547-C-A p.Asn19Lys missense ACSL3 2 82894 2.41272E-5 41447 0 NA
2-223773549-C-G p.Pro20Arg missense ACSL3 2 82890 2.41284E-5 41445 0 6.37105E-5
2-223773551-A-G p.Ile21Val missense ACSL3 1 82856 1.20691E-5 41428 0 5.03525E-4
2-223773554-C-G p.Leu22Val missense ACSL3 1 82882 1.20653E-5 41441 0 NA
2-223773566-A-G p.Ile26Val missense ACSL3 1 82898 1.2063E-5 41449 0 NA
2-223773570-A-G p.His27Arg missense ACSL3 1 82910 1.20613E-5 41455 0 8.37844E-6
2-223773588-A-G p.Tyr33Cys missense ACSL3 3 83062 3.61176E-5 41531 0 2.54874E-4
2-223773590-A-G p.Thr34Ala missense ACSL3 26 83058 3.13034E-4 41529 0 1.93238E-4
2-223773593-A-G p.Ile35Val missense ACSL3 2 83062 2.40784E-5 41531 0 1.59276E-4
2-223773600-C-T p.Thr37Ile missense ACSL3 3 83100 3.61011E-5 41550 0 3.32546E-5
2-223773610-G-A p.Pro40Pro synonymous ACSL3 4 83130 4.81174E-5 41565 0 3.19366E-5
2-223773625-C-T p.Ser45Ser synonymous ACSL3 17 83148 2.04455E-4 41574 0 6.25E-4
2-223773625-C-G p.Ser45Ser synonymous ACSL3 4 83148 4.8107E-5 41574 0 7.44836E-5
2-223773629-T-A p.Ser47Thr missense ACSL3 15 83148 1.80401E-4 41574 1 0.00100705
2-223773647-A-G p.Asn53Asp missense ACSL3 1 83172 1.20233E-5 41586 0 8.26091E-6
2-223773665-C-T p.Pro59Ser missense ACSL3 3 83192 3.60612E-5 41596 1 NA
2-223773667-T-C p.Pro59Pro synonymous ACSL3 3 83190 3.6062E-5 41595 0 1.99547E-5
2-223773676-A-G p.Ser62Ser synonymous ACSL3 4 83186 4.8085E-5 41593 0 3.1835E-5
2-223773680-C-T p.Pro64Ser missense ACSL3 2 83190 2.40414E-5 41595 0 1.48439E-4
2-223773689-G-A p.Ala67Thr missense ACSL3 1 83186 1.20213E-5 41593 0 NA
2-223773700-T-C p.Ser70Ser synonymous ACSL3 1 83198 1.20195E-5 41599 0 NA
2-223773705-A-C p.Asn72Thr missense ACSL3 1 83204 1.20187E-5 41602 0 3.98464E-6
2-223773708-G-A p.Ser73Asn missense ACSL3 4 83200 4.80769E-5 41600 0 1.89644E-4
2-223773724-T-G p.Ala78Ala synonymous ACSL3 5 83194 6.01005E-5 41597 0 3.98394E-6
2-223773725-T-G p.Ser79Ala missense ACSL3 5 83200 6.00962E-5 41600 0 6.36821E-5
2-223773730-A-G p.Val80Val synonymous ACSL3 2 83200 2.40385E-5 41600 0 4.12337E-5
2-223773735-A-T p.Tyr82Phe missense ACSL3 1 83198 1.20195E-5 41599 0 1.64957E-5
2-223773737-C-A p.Pro83Thr missense ACSL3 1 83196 1.20198E-5 41598 0 3.98683E-6
2-223773737-C-T p.Pro83Ser missense ACSL3 2 83196 2.40396E-5 41598 0 1.99341E-5
2-223773764-T-C p.Phe92Leu missense ACSL3 2 83208 2.40361E-5 41604 0 3.18492E-5
2-223773771-A-G p.Tyr94Cys missense ACSL3 1 83204 1.20187E-5 41602 0 4.96401E-5
2-223773772-T-C p.Tyr94Tyr synonymous ACSL3 1 83196 1.20198E-5 41598 0 1.60267E-5
2-223773778-A-C p.Lys96Asn missense ACSL3 1 83208 1.20181E-5 41604 0 NA
2-223773793-C-T p.Asn101Asn synonymous ACSL3 2 83192 2.40408E-5 41596 0 NA
2-223773802-C-G p.Leu104Leu synonymous ACSL3 3 83156 3.60768E-5 41578 0 2.46023E-5
2-223773802-C-CT p.Leu105fs frameshift ACSL3 1 83156 1.20256E-5 41578 0 NA
2-223773813-G-A p.Arg108His missense ACSL3 3 83124 3.60907E-5 41562 0 4.59932E-5
2-223773827-G-A p.Glu113Lys missense ACSL3 1 83072 1.20378E-5 41536 0 NA
2-223773858-T-C p.Ile123Thr missense ACSL3 1 82562 1.21121E-5 41281 0 NA
2-223773858-T-A p.Ile123Asn missense ACSL3 1 82562 1.21121E-5 41281 0 9.56206E-5
2-223773867-A-G p.Lys126Arg missense+splice_region ACSL3 6 82342 7.28668E-5 41171 0 6.41026E-4
2-223773868-G-A p.Lys126Lys splice_region+synonymous ACSL3 2 82310 2.42984E-5 41155 0 8.78657E-6
2-223781039-T-G p.Val127Val splice_region+synonymous ACSL3 3 81372 3.68677E-5 40686 0 NA
2-223781064-T-A p.Ser136Thr missense ACSL3 1 83236 1.2014E-5 41618 0 5.04032E-4
2-223781086-G-A p.Arg143Gln missense ACSL3 4 83290 4.8025E-5 41645 0 3.18837E-5
2-223781104-A-G p.Asn149Ser missense ACSL3 1 83320 1.20019E-5 41660 0 3.97785E-6
2-223781105-T-C p.Asn149Asn synonymous ACSL3 1 83328 1.20008E-5 41664 0 3.97782E-6
2-223781117-G-T p.Met1? start_lost ACSL3 1 83316 1.20025E-5 41658 0 NA
2-223781130-C-G p.Pro158Ala missense ACSL3 1 83292 1.2006E-5 41646 0 NA
2-223781134-A-C p.Lys159Thr missense ACSL3 3 83292 3.60179E-5 41646 0 3.1837E-5
2-223781138-C-G p.Thr160Thr synonymous ACSL3 1 83282 1.20074E-5 41641 0 8.23791E-6
2-223781138-C-T p.Thr160Thr synonymous ACSL3 2 83282 2.40148E-5 41641 0 NA
2-223781142-A-G p.Ile162Val missense ACSL3 2 83274 2.40171E-5 41637 0 1.27348E-4
2-223781144-C-T p.Ile162Ile synonymous ACSL3 2 83272 2.40177E-5 41636 0 4.11909E-5
2-223781145-G-A p.Ala163Thr missense ACSL3 4 83260 4.80423E-5 41630 0 9.55475E-5
2-223781168-C-A p.Ala170Ala synonymous ACSL3 4 83214 4.80688E-5 41607 0 4.12113E-5
2-223781168-C-T p.Ala170Ala synonymous ACSL3 2 83214 2.40344E-5 41607 0 3.98194E-6
2-223781186-A-G p.Ala176Ala synonymous ACSL3 351 83132 0.0042222 41566 0 0.00437785
2-223781214-C-CTT c.556_556+1insTT splice_donor ACSL3 5 81864 6.10769E-5 40932 2 NA
2-223781214-C-T p.Leu186Phe missense+splice_region ACSL3 2 81866 2.44302E-5 40933 0 3.18471E-5
2-223781214-C-G p.Leu186Val missense+splice_region ACSL3 1 81866 1.22151E-5 40933 0 6.36943E-5
2-223781396-G-A n.426G>A splice_region ACSL3 2 29302 6.82547E-5 14651 0 NA
2-223782779-C-T p.Ala191Val missense ACSL3 4 82646 4.83992E-5 41323 0 NA
2-223782789-A-G p.Gly194Gly synonymous ACSL3 1 82756 1.20837E-5 41378 0 8.24402E-6
2-223782807-T-C p.His200His synonymous ACSL3 5 82888 6.03224E-5 41444 0 1.59246E-4
2-223782820-A-G p.Thr205Ala missense ACSL3 1 82910 1.20613E-5 41455 0 1.64818E-5
2-223782826-G-A p.Val207Met missense ACSL3 1 82932 1.20581E-5 41466 0 NA
2-223782835-A-G p.Ile210Val missense ACSL3 1 82970 1.20525E-5 41485 0 NA
2-223782838-A-G p.Ile211Val missense ACSL3 2 82972 2.41045E-5 41486 0 8.24212E-6
2-223782854-T-C p.Leu216Pro missense ACSL3 1 82908 1.20616E-5 41454 0 4.01352E-6
2-223782859-C-A p.Gln218Lys missense ACSL3 1 82882 1.20653E-5 41441 0 1.60244E-5
2-223782870-G-A p.Leu221Leu synonymous ACSL3 1 82756 1.20837E-5 41378 0 NA
2-223782874-G-GATATAGTTTCTTTGGTCCCACGCC c.666+1_666+2insATATAGTTTCTTTGGTCCCACGCC splice_donor ACSL3 2 82728 2.41756E-5 41364 1 NA
2-223783786-T-C p.Ile224Thr missense ACSL3 1 83294 1.20057E-5 41647 0 4.13285E-5
2-223783799-C-T p.Val228Val synonymous ACSL3 2 83324 2.40027E-5 41662 0 1.1946E-5
2-223783803-C-T p.Arg230Cys missense ACSL3 1 83326 1.20011E-5 41663 0 1.27413E-4
2-223783804-G-A p.Arg230His missense ACSL3 1 83316 1.20025E-5 41658 0 1.27486E-4
2-223783806-C-T p.Leu231Leu synonymous ACSL3 8 83318 9.60177E-5 41659 0 1.65008E-5
2-223783809-C-T p.Arg232Trp missense ACSL3 1 83316 1.20025E-5 41658 0 3.29973E-5
2-223783811-G-A p.Arg232Arg synonymous ACSL3 10 83326 1.20011E-4 41663 0 0.00125
2-223783823-T-C p.Thr236Thr synonymous ACSL3 2 83326 2.40021E-5 41663 0 2.78461E-5
2-223783825-T-C p.Val237Ala missense ACSL3 1 83332 1.20002E-5 41666 0 0.00100705
2-223783831-G-A p.Gly239Glu missense ACSL3 7 83322 8.40114E-5 41661 0 6.25E-4
2-223783835-G-GCCA p.Pro242dup disruptive_inframe_insertion ACSL3 1 83312 1.20031E-5 41656 0 NA
2-223783840-C-T p.Pro242Leu missense ACSL3 1 83304 1.20042E-5 41652 0 2.47313E-5
2-223783841-G-A p.Pro242Pro synonymous ACSL3 3976 83242 0.0477643 41621 124 0.0417925
2-223783851-G-A p.Glu246Lys missense ACSL3 1 83314 1.20028E-5 41657 0 3.18573E-5
2-223783876-A-T p.His254Leu missense ACSL3 1 83284 1.20071E-5 41642 0 NA
2-223783880-C-T p.Thr255Thr synonymous ACSL3 1 83286 1.20068E-5 41643 0 7.9576E-6
2-223783881-A-G p.Met256Val missense ACSL3 73 83272 8.76645E-4 41636 0 0.00152866
2-223783890-G-T p.Val259Leu missense ACSL3 3 83230 3.60447E-5 41615 0 NA
2-223783897-C-A p.Ala261Asp missense ACSL3 2 83194 2.40402E-5 41597 0 NA
2-223783902-G-A p.Gly263Arg missense ACSL3 1 83158 1.20253E-5 41579 0 NA
2-223783904-A-G p.Gly263Gly synonymous ACSL3 1 83156 1.20256E-5 41578 0 7.96737E-6
2-223783909-A-G p.Lys265Arg missense ACSL3 87 83128 0.00104658 41564 1 0.0019428
2-223783910-G-T p.Lys265Asn missense ACSL3 1 83120 1.20308E-5 41560 0 NA
2-223783917-A-G p.Met268Val missense ACSL3 4 83040 4.81696E-5 41520 0 2.39082E-5
2-223783924-T-C c.805+4T>C splice_region ACSL3 1 82932 1.20581E-5 41466 0 8.25423E-6
2-223785677-A-G p.Leu2Leu synonymous ACSL3 2 54400 3.67647E-5 27200 0 2.65491E-5
2-223785684-C-A p.Pro5Thr missense ACSL3 4 54690 7.31395E-5 27345 0 6.3674E-5
2-223785699-ACT-A p.Leu11fs frameshift ACSL3 2 55654 3.59363E-5 27827 0 5.70255E-5
2-223785700-C-G p.Thr10Ser missense ACSL3 1 55688 1.79572E-5 27844 0 NA
2-223785704-A-G p.Leu11Leu synonymous ACSL3 2 55990 3.57207E-5 27995 0 1.39064E-4
2-223785711-C-T p.Arg14Trp missense ACSL3 2 56530 3.53794E-5 28265 0 5.6844E-5
2-223785711-C-A p.Arg14Arg synonymous ACSL3 2 56530 3.53794E-5 28265 0 5.6844E-5
2-223785730-T-A p.Ile20Asn missense ACSL3 1 58842 1.69947E-5 29421 0 NA
2-223785740-A-G p.Ala23Ala synonymous ACSL3 22737 58940 0.385765 29470 4378 0.50218
2-223785744-A-G p.Ile25Val missense ACSL3 1 61152 1.63527E-5 30576 0 6.60057E-6
2-223785750-ATCT-A p.Phe28del disruptive_inframe_deletion ACSL3 1 62254 1.60632E-5 31127 0 6.5977E-6
2-223785760-C-T p.Pro30Leu missense ACSL3 6 63762 9.40999E-5 31881 0 1.3197E-5
2-223785784-T-C p.Ile38Thr missense+splice_region ACSL3 1 67104 1.49022E-5 33552 0 NA
2-223785788-T-C c.115+2T>C splice_donor ACSL3 600 67702 0.00886237 33851 1 0.0112696
2-223785790-A-G c.115+4A>G splice_region ACSL3 1 68044 1.46964E-5 34022 0 1.31716E-5
2-223785793-C-T c.115+7C>T splice_region ACSL3 1 68524 1.45934E-5 34262 0 1.31702E-5
2-223786020-A-G p.Pro276Pro synonymous ACSL3 1 83060 1.20395E-5 41530 0 8.24498E-6
2-223786022-T-C p.Leu277Ser missense ACSL3 1 83064 1.20389E-5 41532 0 NA
2-223786043-T-C p.Ile284Thr missense ACSL3 5 83074 6.01873E-5 41537 0 6.3674E-5
2-223786062-C-T p.Ser290Ser synonymous ACSL3 3 83116 3.60941E-5 41558 0 NA
2-223786077-G-A p.Lys295Lys synonymous ACSL3 2 83120 2.40616E-5 41560 0 1.9897E-5
2-223786093-C-A p.His301Asn missense ACSL3 13 83152 1.5634E-4 41576 0 9.55718E-5
2-223786096-A-G p.Ser302Gly missense ACSL3 1 83148 1.20267E-5 41574 0 NA
2-223786148-G-GAGAGGAAGATGTCTACATTGGATATTTGCCTCT c.956_956+1insAGAGGAAGATGTCTACATTGGATATTTGCCTCT splice_donor ACSL3 2 82970 2.41051E-5 41485 1 NA
2-223787434-A-G p.Asp322Gly missense ACSL3 1 82506 1.21203E-5 41253 0 NA
2-223787440-A-G p.Tyr324Cys missense ACSL3 1 82602 1.21062E-5 41301 0 3.1837E-5
2-223787462-C-T p.Ala331Ala synonymous ACSL3 3 82860 3.62056E-5 41430 0 NA
2-223787465-T-C p.His332His synonymous ACSL3 4 82904 4.82486E-5 41452 0 3.18431E-5
2-223787471-A-G p.Leu334Leu synonymous ACSL3 1 82968 1.20528E-5 41484 0 3.18329E-5
2-223787478-A-G p.Ser337Gly missense ACSL3 1 83004 1.20476E-5 41502 0 NA
2-223787498-T-C p.Leu343Leu synonymous ACSL3 1 83104 1.20331E-5 41552 0 NA
2-223787500-C-G p.Ser344Cys missense ACSL3 1 83104 1.20331E-5 41552 0 8.23764E-6
2-223787504-C-T p.His345His synonymous ACSL3 1 83110 1.20322E-5 41555 0 3.58021E-5
2-223787511-C-T p.Arg348Cys missense ACSL3 11 83144 1.32301E-4 41572 0 1.2734E-4
2-223787512-G-A p.Arg348His missense ACSL3 7 83146 8.41893E-5 41573 0 0.00251762
2-223787531-A-G p.Pro354Pro synonymous ACSL3 3 83148 3.60802E-5 41574 0 3.1839E-5
2-223787548-A-G p.Gln360Arg missense+splice_region ACSL3 1 83088 1.20354E-5 41544 0 1.97746E-4
2-223787793-T-C c.1081-3T>C splice_region ACSL3 2 83278 2.40159E-5 41639 0 1.71742E-5
2-223787818-G-A p.Ser368Asn missense ACSL3 1 83366 1.19953E-5 41683 0 9.56023E-5
2-223787822-A-T p.Lys369Asn missense ACSL3 1 83374 1.19941E-5 41687 0 NA
2-223787868-G-GAAATCATGGATCGGATC c.1152+1_1152+2insAAATCATGGATCGGATC splice_donor ACSL3 2 83346 2.39964E-5 41673 1 NA
2-223789185-T-C p.Asp388Asp synonymous ACSL3 8 83012 9.63716E-5 41506 0 8.85034E-6
2-223789186-C-T p.Arg389Trp missense ACSL3 1 83018 1.20456E-5 41509 0 1.2355E-5
2-223789205-T-G p.Met395Arg missense ACSL3 1 83100 1.20337E-5 41550 0 8.49618E-6
2-223789205-T-C p.Met395Thr missense ACSL3 1 83100 1.20337E-5 41550 0 4.06454E-6
2-223789215-C-A p.Val398Val synonymous ACSL3 1 83110 1.20322E-5 41555 0 4.21251E-5
2-223789243-C-G p.Leu408Val missense ACSL3 1 83200 1.20192E-5 41600 0 NA
2-223789272-G-A p.Met417Ile missense ACSL3 2 83192 2.40408E-5 41596 0 NA
2-223789276-C-G p.Gln419Glu missense ACSL3 3 83184 3.60646E-5 41592 0 3.1839E-5
2-223789278-G-C p.Gln419His missense ACSL3 2 83168 2.40477E-5 41584 0 4.03708E-6
2-223789282-T-G p.Ser421Ala missense ACSL3 3 83168 3.60716E-5 41584 0 1.21136E-5
2-223789284-A-C p.Gln4Pro missense ACSL3 7 83176 8.41589E-5 41588 0 1.2734E-4
2-223789292-G-A p.Arg424His missense ACSL3 49 83158 5.8924E-4 41579 0 0.00151057
2-223789300-C-T p.Pro427Ser missense ACSL3 1 83116 1.20314E-5 41558 0 NA
2-223789308-C-T p.Ala12Val missense ACSL3 1 83070 1.2038E-5 41535 0 5.77529E-5
2-223789309-G-A p.Asp430Asn missense ACSL3 47 83068 5.65802E-4 41534 0 0.00151057
2-223789315-TAAGTA-T c.1292+3_1292+7delAAGTA splice_region ACSL3 4 83014 4.81846E-5 41507 0 4.73913E-5
2-223791745-C-T p.Arg435Trp missense ACSL3 2 83368 2.399E-5 41684 0 6.25E-4
2-223791746-G-A p.Arg435Gln missense ACSL3 6 83370 7.19683E-5 41685 0 0.00151057
2-223791754-C-T p.Arg438* stop_gained ACSL3 1 83382 1.1993E-5 41691 0 NA
2-223791755-G-A p.Arg438Gln missense ACSL3 1 83382 1.1993E-5 41691 0 1.6481E-5
2-223791762-G-T p.Leu440Phe missense ACSL3 1 83392 1.19916E-5 41696 0 NA
2-223791764-TA-T p.Gly443fs frameshift ACSL3 1 83390 1.19918E-5 41695 0 3.97988E-6
2-223791765-A-C p.Leu441Leu synonymous ACSL3 2 83388 2.39843E-5 41694 0 8.23818E-6
2-223791765-A-T p.Leu441Leu synonymous ACSL3 1 83388 1.19921E-5 41694 0 NA
2-223791769-G-A p.Gly213Arg missense+splice_region ACSL3 1 83398 1.19907E-5 41699 0 3.97921E-6
2-223791769-G-T p.Gly443* stop_gained ACSL3 1 83398 1.19907E-5 41699 0 NA
2-223791771-A-T p.Gly213Gly splice_region+synonymous ACSL3 1 83388 1.19921E-5 41694 0 NA
2-223791774-T-C p.Asn444Asn synonymous ACSL3 5 83390 5.99592E-5 41695 0 7.41339E-5
2-223791775-A-G p.Ile445Val missense ACSL3 1 83392 1.19916E-5 41696 0 8.23683E-6
2-223791776-T-C p.Ile445Thr missense ACSL3 2 83392 2.39831E-5 41696 0 2.38663E-5
2-223791798-C-T p.Gly452Gly synonymous ACSL3 2 83396 2.3982E-5 41698 0 1.19304E-5
2-223791809-C-T p.Ser456Phe missense ACSL3 2 83400 2.39808E-5 41700 0 NA
2-223791814-A-G p.Thr458Ala missense ACSL3 1 83394 1.19913E-5 41697 0 9.88435E-5
2-223791815-C-T p.Thr458Ile missense ACSL3 7 83392 8.39409E-5 41696 0 4.11841E-5
2-223791824-G-A p.Arg461Gln missense ACSL3 1 83398 1.19907E-5 41699 0 3.9769E-6
2-223791829-A-G p.Met463Val missense ACSL3 14 83388 1.6789E-4 41694 0 6.76057E-5
2-223791835-A-G p.Ile465Val missense ACSL3 1 83390 1.19918E-5 41695 0 2.38612E-5
2-223791868-G-A p.Gly476Arg missense ACSL3 1 83334 1.19999E-5 41667 0 NA
2-223791880-T-A p.Ser480Thr missense ACSL3 1 83300 1.20048E-5 41650 0 8.23845E-6
2-223791897-A-G p.Thr485Thr synonymous ACSL3 1 83256 1.20111E-5 41628 0 NA
2-223791903-C-T p.Ser487Ser synonymous ACSL3 33 83228 3.96501E-4 41614 0 5.09587E-4
2-223791907-G-GT c.1465_1465+1insT splice_donor ACSL3 3 83224 3.60473E-5 41612 1 NA
2-223793581-G-A p.Val489Val splice_region+synonymous ACSL3 3 83186 3.60638E-5 41593 0 4.12276E-5
2-223793591-A-G p.Asn493Asp missense ACSL3 1 83192 1.20204E-5 41596 0 8.24362E-6
2-223793593-T-C p.Asn493Asn synonymous ACSL3 1 83196 1.20198E-5 41598 0 2.3885E-5
2-223793605-G-C p.Val497Val synonymous ACSL3 1 83200 1.20192E-5 41600 0 NA
2-223793635-A-G p.Lys507Lys synonymous ACSL3 1 83136 1.20285E-5 41568 0 NA
2-223793638-A-G p.Leu508Leu synonymous ACSL3 4 83146 4.81081E-5 41573 0 4.12392E-5
2-223793644-C-T p.Asn510Asn synonymous ACSL3 2 83100 2.40674E-5 41550 0 9.57243E-5
2-223795336-T-C c.1541-3T>C splice_region ACSL3 14 82898 1.68882E-4 41449 0 NA
2-223795338-G-T c.1541-1G>T splice_acceptor ACSL3 1 83132 1.20291E-5 41566 0 NA
2-223795343-A-C p.Gly515Gly synonymous ACSL3 1 83172 1.20233E-5 41586 0 NA
2-223795365-C-A p.His523Asn missense ACSL3 1 83318 1.20022E-5 41659 0 NA
2-223795391-G-A p.Gly531Gly synonymous ACSL3 1 83334 1.19999E-5 41667 0 2.78742E-5
2-223795403-G-C p.Val535Val synonymous ACSL3 5 83336 5.99981E-5 41668 0 1.194E-5
2-223795408-T-A p.Met537Lys missense ACSL3 2 83346 2.39964E-5 41673 0 7.32858E-4
2-223795412-G-T p.Gly538Gly synonymous ACSL3 1 83346 1.19982E-5 41673 0 3.18532E-5
2-223795415-C-T p.Tyr539Tyr synonymous ACSL3 1 83350 1.19976E-5 41675 0 NA
2-223795428-G-A p.Ala544Thr missense ACSL3 1 83348 1.19979E-5 41674 0 9.56145E-5
2-223795440-G-A p.Ala548Thr missense ACSL3 5 83350 5.9988E-5 41675 0 3.62743E-4
2-223795450-T-C p.Phe551Ser missense ACSL3 71 83356 8.51768E-4 41678 0 8.23415E-4
2-223795471-G-A p.Arg558Lys missense ACSL3 1 83358 1.19964E-5 41679 0 NA
2-223795472-G-A p.Arg558Arg synonymous ACSL3 1 83358 1.19964E-5 41679 0 1.64807E-5
2-223795478-C-G p.Leu560Leu synonymous ACSL3 13 83362 1.55946E-4 41681 0 5.04032E-4
2-223795479-T-C p.Cys561Arg missense ACSL3 1 83362 1.19959E-5 41681 0 3.97871E-6
2-223795506-C-A p.Pro570Thr missense ACSL3 2 83316 2.4005E-5 41658 0 3.18431E-5
2-223795508-C-T p.Pro570Pro synonymous ACSL3 1 83238 1.20137E-5 41619 0 1.90281E-4
2-223795508-C-A p.Pro570Pro synonymous ACSL3 1 83236 1.2014E-5 41618 0 NA
2-223795509-G-A p.Asp571Asn missense ACSL3 1 83244 1.20129E-5 41622 0 3.18451E-5
2-223795524-A-G p.Ile576Val missense ACSL3 1 83128 1.20296E-5 41564 0 3.1839E-5
2-223795529-T-C p.Ile577Ile splice_region+synonymous ACSL3 1 83076 1.20372E-5 41538 0 NA
2-223797881-C-T c.1733-3C>T splice_region ACSL3 2 83210 2.40356E-5 41605 0 3.18532E-5
2-223797886-C-T p.Arg579Cys missense+splice_region ACSL3 1 83256 1.20111E-5 41628 0 4.01668E-6
2-223797887-G-A p.Arg579His missense ACSL3 2 83258 2.40217E-5 41629 1 4.01197E-6
2-223797921-A-G p.Glu590Glu synonymous ACSL3 2 83332 2.40004E-5 41666 0 3.97985E-6
2-223797961-C-A p.Leu604Ile missense ACSL3 1 83248 1.20123E-5 41624 0 3.18471E-5
2-223797966-A-G p.Pro605Pro synonymous ACSL3 1 83246 1.20126E-5 41623 0 1.65492E-5
2-223797990-T-C p.Tyr613Tyr synonymous ACSL3 3 83176 3.60681E-5 41588 0 4.01929E-6
2-223797994-A-G p.Asn615Asp missense ACSL3 1 83146 1.2027E-5 41573 0 NA
2-223797997-A-G p.Ser616Gly missense+splice_region ACSL3 1 83140 1.20279E-5 41570 0 NA
2-223797998-G-GTTATCATTCTTAT c.1847_1847+1insTTATCATTCTTAT splice_donor ACSL3 6 83134 7.21726E-5 41567 3 NA
2-223799246-A-G c.1848-2A>G splice_acceptor ACSL3 1 82210 1.2164E-5 41105 0 NA
2-223799249-T-C p.Tyr617His missense+splice_region ACSL3 1 82252 1.21578E-5 41126 0 1.37832E-5
2-223799255-T-A p.Ser619Thr missense ACSL3 1 82372 1.214E-5 41186 0 NA
2-223799275-T-G p.Val625Val synonymous ACSL3 3 82452 3.63848E-5 41226 0 6.25E-4
2-223799290-G-A p.Lys630Lys synonymous ACSL3 240 82452 0.00291078 41226 1 0.00662505
2-223799294-C-T p.Leu632Leu synonymous ACSL3 1 82502 1.21209E-5 41251 0 NA
2-223799310-G-T p.Arg637Leu missense ACSL3 3 82644 3.63003E-5 41322 0 NA
2-223799310-G-A p.Arg637Gln missense ACSL3 6 82644 7.26006E-5 41322 0 6.09172E-5
2-223799311-A-G p.Arg637Arg synonymous ACSL3 1 82666 1.20969E-5 41333 0 NA
2-223799335-G-A p.Trp645* stop_gained ACSL3 1 82610 1.21051E-5 41305 0 NA
2-223799341-G-C p.Glu647Asp missense ACSL3 8 82590 9.6864E-5 41295 0 2.22916E-4
2-223799341-G-A p.Glu647Glu synonymous ACSL3 4 82590 4.8432E-5 41295 0 NA
2-223799360-A-G p.Met654Val missense ACSL3 1 82400 1.21359E-5 41200 0 1.2108E-5
2-223799366-A-G p.Asn656Asp missense ACSL3 1 82328 1.21465E-5 41164 0 NA
2-223799368-T-C p.Asn656Asn synonymous ACSL3 1 82268 1.21554E-5 41134 0 NA
2-223799388-C-T p.Ser663Phe missense ACSL3 2 81798 2.44505E-5 40899 0 8.31559E-6
2-223799389-C-T p.Ser663Ser synonymous ACSL3 2 81766 2.446E-5 40883 0 5.03525E-4
2-223799390-G-A p.Glu664Lys missense ACSL3 2 81730 2.44708E-5 40865 0 8.31947E-6
2-223799399-A-G p.Ile667Val missense ACSL3 29 81428 3.56143E-4 40714 0 2.86642E-4
2-223799404-A-G p.Ser668Ser splice_region+synonymous ACSL3 6 81282 7.38171E-5 40641 0 1.66658E-5
2-223799405-G-GCAAGTCTGGAAAAGTTTGAAATTCCAGTAAAAATTCGTTTGAGTCCTGAACC c.2005_2005+1insCAAGTCTGGAAAAGTTTGAAATTCCAGTAAAAATTCGTTTGAGTCCTGAACC splice_donor ACSL3 2 81176 2.46378E-5 40588 1 NA
2-223806209-T-C c.2006-6T>C splice_region ACSL3 2 82356 2.42848E-5 41178 0 NA
2-223806210-C-T c.2006-5C>T splice_region ACSL3 10 82234 1.21604E-4 41117 0 5.73847E-4
2-223806239-CAG-C p.Val678fs frameshift ACSL3 1 82842 1.20712E-5 41421 0 NA
2-223806248-T-TACAAACATAAGTAAAACAATAAAC p.Ile680_Arg681insGlnThrTerValLysGlnTerThr stop_gained ACSL3 1 82840 1.20715E-5 41420 0 NA
2-223806249-T-A p.Ile680Ile synonymous ACSL3 1 82802 1.2077E-5 41401 0 4.05091E-6
2-223806250-C-T p.Arg681Cys missense ACSL3 5 82806 6.03821E-5 41403 0 0.0020141
2-223806253-T-C p.Leu682Leu synonymous ACSL3 2 82856 2.41383E-5 41428 0 8.30289E-6
2-223806265-C-A p.Pro686Thr missense ACSL3 3 82906 3.61856E-5 41453 0 NA
2-223806267-G-A p.Pro686Pro synonymous ACSL3 14 82906 1.68866E-4 41453 0 3.21523E-4
2-223806286-C-T p.Leu693Leu synonymous ACSL3 3 82960 3.6162E-5 41480 0 1.99341E-5
2-223806297-T-G p.Asp696Glu missense ACSL3 1 82984 1.20505E-5 41492 0 NA
2-223806329-C-CAATAA p.His708fs frameshift ACSL3 1 82928 1.20587E-5 41464 0 NA
2-223806331-C-CT p.His708fs frameshift ACSL3 1 82914 1.20607E-5 41457 0 NA
2-223806341-C-T p.Ala711Val missense ACSL3 1 82866 1.20677E-5 41433 0 NA
2-223806342-G-A p.Ala711Ala synonymous ACSL3 6 82886 7.23886E-5 41443 0 8.30937E-6
2-223806342-G-C p.Ala711Ala synonymous ACSL3 6 82886 7.23886E-5 41443 0 3.18979E-4
2-223806345-C-T p.Asp712Asp synonymous ACSL3 1 82874 1.20665E-5 41437 0 NA
2-223806351-G-A p.Glu714Glu synonymous ACSL3 66 82844 7.96678E-4 41422 0 4.36206E-4