Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
6-139456261-C-T c.-273C>T 5_prime_UTR_premature_start_codon_gain HECA 1 26922 3.71443E-5 13461 0 NA
6-139456382-C-T c.-152C>T 5_prime_UTR_premature_start_codon_gain HECA 2 28200 7.0922E-5 14100 0 NA
6-139456406-C-T c.-128C>T 5_prime_UTR_premature_start_codon_gain HECA 1 31486 3.17601E-5 15743 0 NA
6-139456423-C-T c.-111C>T 5_prime_UTR_premature_start_codon_gain HECA 1 33722 2.96542E-5 16861 0 NA
6-139456471-G-T c.-63G>T 5_prime_UTR_premature_start_codon_gain HECA 3 48394 6.19912E-5 24197 0 NA
6-139456504-C-T c.-30C>T 5_prime_UTR_premature_start_codon_gain HECA 3 56724 5.28877E-5 28362 0 6.88895E-5
6-139456543-C-G p.Pro4Ala missense HECA 1 60494 1.65306E-5 30247 0 1.02655E-5
6-139456546-A-C p.Lys5Gln missense HECA 1 60526 1.65218E-5 30263 0 6.75676E-4
6-139456553-GC-AT p.Ser7Asn missense HECA 1 60152 1.66246E-5 30076 0 NA
6-139456587-C-T p.Ser18Ser synonymous HECA 1 54338 1.84033E-5 27169 0 2.15369E-5
6-139456614-C-T p.Ala27Ala synonymous HECA 1 42450 2.35571E-5 21225 0 NA
6-139456617-G-T p.Gly28Gly synonymous HECA 1 41452 2.41243E-5 20726 0 NA
6-139456619-C-T p.Ala29Val missense HECA 1 40320 2.48016E-5 20160 0 NA
6-139456622-TGGCAGCGGCGGGCGCGGCGGGAGCGGCGGCCGGGGGGGCCCTGGCGGC-T p.Ala32_Ala47del disruptive_inframe_deletion HECA 1 34992 2.8578E-5 17496 0 NA
6-139456626-A-G p.Ala31Ala synonymous HECA 1 33676 2.96947E-5 16838 0 3.85446E-5
6-139456626-AGCGGCGGGC-A p.Ala35_Gly37del disruptive_inframe_deletion HECA 6 33676 1.78168E-4 16838 0 NA
6-139456633-G-GTC p.Gly34fs frameshift HECA 1 30792 3.2476E-5 15396 0 NA
6-139456635-CGCGGCGGGA-C p.Gly37_Ala39del disruptive_inframe_deletion HECA 1 29734 3.36315E-5 14867 0 1.18343E-4
6-139456635-C-CGGCGGGA p.Ala35fs frameshift HECA 1 29734 3.36315E-5 14867 0 NA
6-139456641-G-A p.Ala36Ala synonymous HECA 4 28170 1.41995E-4 14085 0 8.05412E-5
6-139456653-C-T p.Ala40Ala synonymous HECA 1 23760 4.20875E-5 11880 0 NA
6-139456663-C-T p.Leu44Leu synonymous HECA 1 19176 5.21485E-5 9588 0 NA
6-139456688-C-T p.Ala52Val missense HECA 1 6708 1.49076E-4 3354 0 8.55066E-5
6-139456692-GGCGGCGGGCGCGCCGGGCGCCGGAGGC-G p.Pro58_Ala66del disruptive_inframe_deletion HECA 2 5858 3.41413E-4 2929 0 1.70969E-4
6-139456699-G-A p.Gly56Ser missense HECA 1 5370 1.8622E-4 2685 0 NA
6-139456705-CCGGGCGCCGGAGGCGCGG-C p.Ala64_Ala69del disruptive_inframe_deletion HECA 53 5252 0.0100914 2626 1 0.00612423
6-139456713-C-G p.Ala60Ala synonymous HECA 1 5246 1.90621E-4 2623 0 4.36796E-5
6-139456714-G-A p.Gly61Arg missense HECA 1 5328 1.87688E-4 2664 0 4.30256E-5
6-139456721-C-CGGG p.Ala63_Ala64insGly disruptive_inframe_insertion HECA 1 5424 1.84366E-4 2712 0 3.47977E-4
6-139456757-ACGCTGCGGC-A p.Ala77_Ala79del disruptive_inframe_deletion HECA 17 9698 0.00175294 4849 0 9.9155E-4
6-139456761-T-C p.Ala76Ala synonymous HECA 5092 8828 0.576801 4414 1566 0.690139
6-139456811-C-T c.271+7C>T splice_region HECA 1 17310 5.77701E-5 8655 0 NA
6-139487413-TCCC-T c.272-5_272-3delCCC splice_region HECA 1 80502 1.24221E-5 40251 0 NA
6-139487441-C-T p.Leu98Leu synonymous HECA 1 80818 1.23735E-5 40409 0 NA
6-139487446-C-G p.Ile99Met missense HECA 11 80850 1.36054E-4 40425 0 9.55049E-5
6-139487451-G-A p.Ser101Asn missense HECA 1 80852 1.23683E-5 40426 0 NA
6-139487456-G-A p.Gly103Ser missense HECA 1 80872 1.23652E-5 40436 0 3.41886E-5
6-139487464-G-A p.Pro105Pro synonymous HECA 2 80906 2.472E-5 40453 0 5.03525E-4
6-139487474-G-C p.Glu109Gln missense HECA 1 80928 1.23567E-5 40464 0 NA
6-139487482-C-T p.Asp111Asp synonymous HECA 9 80932 1.11204E-4 40466 0 7.57606E-5
6-139487483-G-A p.Asp112Asn missense HECA 1 80920 1.23579E-5 40460 0 NA
6-139487509-C-T p.Asn120Asn synonymous HECA 59 80902 7.29277E-4 40451 0 6.25E-4
6-139487515-C-G p.His122Gln missense HECA 1 80910 1.23594E-5 40455 0 3.1839E-5
6-139487540-C-T p.Leu131Leu synonymous HECA 1 80882 1.23637E-5 40441 0 NA
6-139487554-C-T p.Tyr135Tyr synonymous HECA 1 80884 1.23634E-5 40442 0 3.18613E-5
6-139487555-G-C p.Glu136Gln missense HECA 1 80882 1.23637E-5 40441 0 8.26815E-6
6-139487557-G-A p.Glu136Glu synonymous HECA 2 80890 2.47249E-5 40445 0 3.18492E-5
6-139487575-C-T p.Leu142Leu synonymous HECA 3 80886 3.70892E-5 40443 0 2.47987E-5
6-139487593-C-T p.Ile148Ile synonymous HECA 7 80920 8.65052E-5 40460 0 3.18715E-4
6-139487593-C-G p.Ile148Met missense HECA 1 80920 1.23579E-5 40460 0 3.98026E-6
6-139487599-C-T p.Arg150Arg synonymous HECA 1 80912 1.23591E-5 40456 0 8.26597E-6
6-139487602-G-A p.Ala151Ala synonymous HECA 2 80906 2.472E-5 40453 0 4.95933E-5
6-139487623-A-G p.Gln158Gln synonymous HECA 1 80964 1.23512E-5 40482 0 2.78622E-5
6-139487656-C-T p.Tyr169Tyr synonymous HECA 3 80930 3.70691E-5 40465 0 1.24061E-4
6-139487668-C-G p.Phe173Leu missense HECA 2 80916 2.4717E-5 40458 0 NA
6-139487695-G-A p.Gln182Gln synonymous HECA 1 80822 1.23729E-5 40411 0 3.1841E-5
6-139487701-C-G p.His184Gln missense HECA 1 80808 1.2375E-5 40404 0 NA
6-139487724-A-T p.Tyr192Phe missense HECA 1 80782 1.2379E-5 40391 0 NA
6-139487767-C-T p.Gly206Gly synonymous HECA 1 80870 1.23655E-5 40435 0 1.66511E-5
6-139487769-C-G p.Ser207Cys missense HECA 1 80872 1.23652E-5 40436 0 4.38285E-5
6-139487770-C-T p.Ser207Ser synonymous HECA 6 80880 7.4184E-5 40440 0 3.33261E-5
6-139487773-G-A p.Glu208Glu synonymous HECA 1 80896 1.23616E-5 40448 0 3.98518E-6
6-139487805-C-T p.Ala219Val missense HECA 12 80682 1.48732E-4 40341 0 1.91902E-4
6-139487806-G-A p.Ala219Ala synonymous HECA 4 80712 4.95589E-5 40356 0 2.72512E-4
6-139487809-G-A p.Glu220Glu synonymous HECA 3 80682 3.7183E-5 40341 0 8.52646E-6
6-139487823-G-A p.Cys225Tyr missense HECA 2 80466 2.48552E-5 40233 0 9.5645E-5
6-139487828-C-G p.Pro227Ala missense HECA 2 80436 2.48645E-5 40218 0 NA
6-139487829-C-T p.Pro227Leu missense HECA 3 80452 3.72893E-5 40226 0 1.22229E-5
6-139487831-C-T p.Pro228Ser missense HECA 1 80410 1.24363E-5 40205 0 NA
6-139487836-T-C p.Asn229Asn synonymous HECA 56037 79898 0.701357 39949 20056 0.690461
6-139487842-C-T p.Pro231Pro synonymous HECA 1 80200 1.24688E-5 40100 0 1.24599E-5
6-139487860-C-T p.His237His synonymous HECA 4 79618 5.02399E-5 39809 0 0.00151668
6-139487871-G-GCCGGCATTCCATGGA p.His243_Arg247dup disruptive_inframe_insertion HECA 1 79860 1.25219E-5 39930 0 NA
6-139487871-G-A p.Arg241His missense HECA 1 79860 1.25219E-5 39930 0 NA
6-139487873-C-T p.Arg242Trp missense HECA 1 79836 1.25257E-5 39918 0 9.55779E-5
6-139487881-C-G p.Ser244Ser synonymous HECA 1 79916 1.25131E-5 39958 0 NA
6-139487882-A-G p.Met245Val missense HECA 1 79902 1.25153E-5 39951 0 NA
6-139487888-C-T p.Arg247Trp missense HECA 3 79760 3.76128E-5 39880 0 5.04032E-4
6-139487888-C-A p.Arg247Arg synonymous HECA 1 79760 1.25376E-5 39880 0 NA
6-139487889-G-A p.Arg247Gln missense HECA 2 79758 2.50759E-5 39879 0 4.46715E-5
6-139487889-G-T p.Arg247Leu missense HECA 2 79760 2.50752E-5 39880 0 6.37349E-5
6-139487893-G-C p.Gln248His missense HECA 1 79680 1.25502E-5 39840 0 NA
6-139487929-C-T p.Tyr260Tyr synonymous HECA 2 79004 2.53152E-5 39502 0 3.18735E-5
6-139487930-G-A p.Gly261Ser missense HECA 1 78986 1.26605E-5 39493 0 8.95047E-6
6-139487936-C-T p.Arg263Cys missense HECA 1 78942 1.26675E-5 39471 0 7.14847E-5
6-139487937-G-A p.Arg263His missense HECA 1 78916 1.26717E-5 39458 0 1.62743E-5
6-139487938-T-G p.Arg263Arg synonymous HECA 5 78938 6.33408E-5 39469 0 6.37349E-5
6-139487944-C-T p.Pro265Pro synonymous HECA 2 78906 2.53466E-5 39453 0 NA
6-139487945-G-A p.Gly266Ser missense HECA 2 78856 2.53627E-5 39428 0 NA
6-139487946-G-T p.Gly266Val missense HECA 1 78850 1.26823E-5 39425 0 4.07E-6
6-139487946-G-C p.Gly266Ala missense HECA 2 78850 2.53646E-5 39425 0 NA
6-139487947-T-A p.Gly266Gly synonymous HECA 1 78810 1.26887E-5 39405 0 NA
6-139487953-C-T p.Ser268Ser synonymous HECA 1 78950 1.26662E-5 39475 0 NA
6-139487960-C-G p.Gln271Glu missense HECA 2 79044 2.53024E-5 39522 0 NA
6-139487974-G-A p.Thr275Thr synonymous HECA 1 79080 1.26454E-5 39540 0 8.11952E-6
6-139487983-C-T p.Ser278Ser synonymous HECA 1 79352 1.26021E-5 39676 0 8.7667E-6
6-139487984-A-G p.Ile279Val missense HECA 2 79350 2.52048E-5 39675 0 8.75856E-6
6-139487987-C-T p.Leu280Phe missense HECA 2 79398 2.51896E-5 39699 0 6.37146E-5
6-139487992-T-G p.Ser281Ser synonymous HECA 2 79450 2.51731E-5 39725 0 9.69493E-5
6-139487996-G-A p.Ala283Thr missense HECA 1 79510 1.2577E-5 39755 0 NA
6-139488007-C-T p.Ser286Ser synonymous HECA 20 79618 2.51199E-4 39809 0 3.82287E-4
6-139488013-C-T p.Pro288Pro synonymous HECA 1 79748 1.25395E-5 39874 0 NA
6-139488031-C-T p.Leu294Leu synonymous HECA 18 79928 2.25203E-4 39964 0 6.05558E-4
6-139488032-G-A p.Gly295Arg missense HECA 5 79922 6.2561E-5 39961 0 8.04913E-6
6-139488049-C-T p.Asn300Asn synonymous HECA 31 80180 3.8663E-4 40090 0 2.08619E-4
6-139488069-A-C p.His307Pro missense HECA 1 80362 1.24437E-5 40181 0 NA
6-139488082-G-A p.Met311Ile missense HECA 1 80428 1.24335E-5 40214 0 NA
6-139488084-C-T p.Ala312Val missense HECA 1 80414 1.24356E-5 40207 0 NA
6-139488132-G-A p.Gly328Glu missense HECA 2 80760 2.47647E-5 40380 0 3.58983E-5
6-139488148-G-T p.Arg333Ser missense HECA 2 80810 2.47494E-5 40405 0 9.5584E-5
6-139488148-G-A p.Arg333Arg synonymous HECA 1 80810 1.23747E-5 40405 0 6.37227E-5
6-139488148-G-C p.Arg333Ser missense HECA 1 80810 1.23747E-5 40405 0 3.35374E-5
6-139488149-G-A p.Gly334Arg missense HECA 2 80810 2.47494E-5 40405 0 1.27405E-4
6-139488154-A-G p.Gly335Gly synonymous HECA 201 80782 0.00248818 40391 0 0.00248569
6-139488160-C-T p.Phe337Phe synonymous HECA 3579 80726 0.0443352 40363 76 0.049375
6-139488169-C-T p.Pro340Pro synonymous HECA 3 80864 3.70993E-5 40432 0 6.37024E-5
6-139488185-C-T p.Arg346Trp missense HECA 1 80854 1.2368E-5 40427 0 1.66547E-5
6-139488194-C-G p.Leu349Val missense HECA 1 80868 1.23658E-5 40434 0 3.98105E-6
6-139488199-C-T p.Ser350Ser synonymous HECA 3 80862 3.71002E-5 40431 0 6.37186E-5
6-139488200-G-A p.Glu351Lys missense HECA 1 80840 1.23701E-5 40420 0 8.2982E-6
6-139488223-G-A p.Arg358Arg synonymous HECA 1 80814 1.23741E-5 40407 0 8.27499E-6
6-139488223-G-C p.Arg358Ser missense HECA 1 80814 1.23741E-5 40407 0 NA
6-139488236-A-T p.Thr363Ser missense HECA 2 80636 2.48028E-5 40318 0 NA
6-139488244-C-T p.His365His synonymous HECA 1 80380 1.24409E-5 40190 0 2.78494E-5
6-139488248-C-T p.Arg367Cys missense HECA 13 80130 1.62236E-4 40065 0 1.65401E-5
6-139488251-A-G p.Met368Val missense HECA 1 80060 1.24906E-5 40030 0 3.9781E-6
6-139488259-C-T p.Asp370Asp synonymous HECA 1 79620 1.25597E-5 39810 0 8.2687E-6
6-139488265-C-T p.Ala372Ala synonymous HECA 1 79072 1.26467E-5 39536 0 NA
6-139488269-G-A p.Val374Met missense HECA 1 78860 1.26807E-5 39430 0 3.97842E-6
6-139488290-C-A p.Arg381Arg synonymous HECA 2 76584 2.61151E-5 38292 0 3.97928E-6
6-139488290-C-T p.Arg381Trp missense HECA 1 76584 1.30576E-5 38292 0 3.97928E-6
6-139488302-C-T p.Leu385Leu synonymous HECA 9 75578 1.19082E-4 37789 0 2.86752E-4
6-139488307-C-T p.Ala386Ala synonymous HECA 21 74848 2.80569E-4 37424 0 6.05404E-4
6-139488308-G-A p.Ala387Thr missense HECA 2 74686 2.67788E-5 37343 0 2.38817E-5
6-139488310-G-A p.Ala387Ala synonymous HECA 1 74456 1.34308E-5 37228 0 1.6539E-5
6-139488311-C-T p.Leu388Phe missense HECA 2 74446 2.68651E-5 37223 0 4.37766E-5
6-139488325-C-T p.His392His synonymous HECA 1 73342 1.36348E-5 36671 0 1.65363E-5
6-139488354-A-G p.His402Arg missense HECA 1 70806 1.41231E-5 35403 0 1.19365E-5
6-139488355-C-G p.His402Gln missense HECA 1 70734 1.41375E-5 35367 0 NA
6-139488357-G-A p.Arg403Gln missense HECA 1 70468 1.41908E-5 35234 0 3.18573E-5
6-139488360-C-T p.Ala404Val missense HECA 2 69950 2.85919E-5 34975 0 3.18654E-5
6-139488361-G-A p.Ala404Ala synonymous HECA 4 69928 5.72017E-5 34964 0 2.54874E-4
6-139488367-G-A p.Pro406Pro synonymous HECA 3 69274 4.33063E-5 34637 0 9.55657E-5
6-139488368-G-A p.Val407Met missense HECA 2 69078 2.89528E-5 34539 0 NA
6-139488407-C-T p.Leu420Leu synonymous HECA 1 65180 1.53421E-5 32590 0 7.97804E-6
6-139488417-C-T p.Ser423Leu missense HECA 2 63718 3.13883E-5 31859 0 7.98958E-6
6-139488431-A-T p.Ile428Phe missense HECA 1 62496 1.6001E-5 31248 0 NA
6-139488436-A-G p.Glu429Glu synonymous HECA 1 61872 1.61624E-5 30936 0 NA
6-139488454-C-T p.His435His synonymous HECA 1 60364 1.65662E-5 30182 0 3.1841E-5
6-139488458-C-G p.Gln437Glu missense HECA 2 60126 3.32635E-5 30063 0 3.18431E-5
6-139495514-G-T c.1313-8G>T splice_region HECA 1 80372 1.24421E-5 40186 0 8.27363E-6
6-139495514-G-C c.1313-8G>C splice_region HECA 1 80372 1.24421E-5 40186 0 4.01155E-6
6-139495525-G-C p.Arg439Thr missense HECA 2 80546 2.48305E-5 40273 0 NA
6-139495536-C-T p.Leu443Leu synonymous HECA 1 80660 1.23977E-5 40330 0 3.18593E-5
6-139495540-A-G p.Tyr444Cys missense HECA 2 80710 2.47801E-5 40355 0 NA
6-139495545-G-A p.Val446Met missense HECA 1 80760 1.23824E-5 40380 0 1.99118E-5
6-139495550-C-T p.Cys447Cys synonymous HECA 3 80816 3.71214E-5 40408 0 6.37918E-5
6-139495565-A-G p.Glu452Glu synonymous HECA 2 80894 2.47237E-5 40447 0 NA
6-139495602-C-T p.Arg465Trp missense HECA 1 80806 1.23753E-5 40403 0 NA
6-139495603-G-A p.Arg465Gln missense HECA 7 80812 8.66208E-5 40406 0 5.17125E-5
6-139495614-A-G p.Ser469Gly missense HECA 1 80734 1.23864E-5 40367 0 8.2375E-6
6-139495625-G-C p.Gln472His missense HECA 1 80618 1.24042E-5 40309 0 NA
6-139495635-A-G p.Met476Val missense HECA 6 80388 7.4638E-5 40194 0 2.47186E-5
6-139495638-TA-T p.Tyr477fs frameshift HECA 1 80276 1.2457E-5 40138 0 NA
6-139495647-G-A p.Asp480Asn missense HECA 4 79820 5.01128E-5 39910 0 3.18613E-5
6-139495658-T-C p.Ala483Ala synonymous HECA 12 79304 1.51316E-4 39652 0 3.82263E-4
6-139495679-A-T c.1467+3A>T splice_region HECA 1 77848 1.28455E-5 38924 0 NA
6-139498081-C-T p.Arg491Cys missense HECA 1 60472 1.65366E-5 30236 0 NA
6-139498101-T-C p.Cys497Cys synonymous HECA 1 60582 1.65066E-5 30291 0 8.46482E-6
6-139498124-G-A p.Arg505Lys missense HECA 1 60644 1.64897E-5 30322 0 3.97918E-6
6-139498128-C-T p.Ile506Ile synonymous HECA 7 60652 1.15413E-4 30326 0 7.66232E-4
6-139498131-G-A p.Gly507Gly synonymous HECA 2 60660 3.29707E-5 30330 0 4.37626E-5
6-139498146-C-T p.Ser512Ser synonymous HECA 1 60680 1.64799E-5 30340 0 NA
6-139498158-C-T p.Asn516Asn synonymous HECA 12 60700 1.97694E-4 30350 0 9.90564E-4
6-139498186-C-T p.Leu526Leu synonymous HECA 1 60680 1.64799E-5 30340 0 NA
6-139498200-C-T p.Phe530Phe synonymous HECA 6 60634 9.89544E-5 30317 0 9.55475E-5
6-139498211-T-C p.Phe534Ser missense HECA 1 60588 1.65049E-5 30294 0 NA