Evo2 Variant Effect Database

Database & SQL — inspect the same scored variants and original fields used throughout Evo2VED.

Strongest-effect protein-coding variants

Nonsynonymous / stopgain / stoploss / startloss, ranked by |Evo2-40B AvgRC Δ|

Custom SQL query returning 1,000 rows (hide) 

SELECT Variant_ID, RSID, Chromosome, Position, Reference_Allele, Alternate_Allele, Gene,
       Exonic_Function, Amino_Acid_Change,
       Evo2_40B_AvgRC_Delta, Evo2_7B_AvgRC_Delta,
       PhastCons_100way, PhyloP_100way
FROM variants
WHERE Exonic_Function IN
      ('nonsynonymous SNV','stopgain','stoploss','startloss')
ORDER BY abs(Evo2_40B_AvgRC_Delta) DESC
LIMIT 1000

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This data as json, CSV

Variant_IDRSIDChromosomePositionReference_AlleleAlternate_AlleleGeneExonic_FunctionAmino_Acid_ChangeEvo2_40B_AvgRC_DeltaEvo2_7B_AvgRC_DeltaPhastCons_100wayPhyloP_100way
11:78107719:G:C rs11237391 11 78107719 G C ALG8 nonsynonymous SNV ALG8:ENST00000532440.6:exon10:c.C1084G:p.Q362E 341.200937271118 -3.95879745483398 0.003 -0.2005
2:168864867:G:A rs479661 2 168864867 G A NOSTRIN nonsynonymous SNV NOSTRIN:ENST00000397206.6:exon15:c.G1184A:p.G395E,NOSTRIN:ENST00000397209.6:exon15:c.G1334A:p.G445E,NOSTRIN:ENST00000445023.6:exon15:c.G1184A:p.G395E,NOSTRIN:ENST00000317647.12:exon16:c.G1418A:p.G473E,NOSTRIN:ENST00000444448.6:exon19:c.G1589A:p.G530E,NOSTRIN:ENST00000458381.6:exon21:c.G1589A:p.G530E 259.742652416227 7.63671875 1.0 3.1195
11:78107757:G:A rs11237392 11 78107757 G A ALG8 nonsynonymous SNV ALG8:ENST00000532440.6:exon10:c.C1046T:p.A349V 253.273140907286 -2.84965896606809 0.022 -0.203
6:31642909:A:G rs1052486 6 31642909 A G BAG6 nonsynonymous SNV BAG6:ENST00000375964.11:exon13:c.T1777C:p.S593P,BAG6:ENST00000211379.9:exon14:c.T1855C:p.S619P,BAG6:ENST00000362049.10:exon14:c.T1855C:p.S619P,BAG6:ENST00000375976.8:exon14:c.T1855C:p.S619P,BAG6:ENST00000676571.1:exon15:c.T1996C:p.S666P,BAG6:ENST00000676615.2:exon15:c.T1963C:p.S655P 246.059860229492 12.5101661682129 0.37 0.1755
4:154489579:G:C rs72731016 4 154489579 G C DCHS2 nonsynonymous SNV DCHS2:ENST00000339452.2:exon1:c.C1777G:p.Q593E,DCHS2:ENST00000357232.10:exon1:c.C1777G:p.Q593E 242.464926958084 4.40760803222656 0.0 -0.256
9:127727464:A:G rs13298768 9 127727464 A G TTC16 nonsynonymous SNV TTC16:ENST00000373289.4:exon12:c.A1763G:p.E588G 223.089399337769 12.7369842529297 0.9805 1.479
16:27362551:A:C rs1805011 16 27362551 A C IL4R nonsynonymous SNV IL4R:ENST00000170630.6:exon9:c.A1154C:p.E385A,IL4R:ENST00000543915.6:exon10:c.A1199C:p.E400A,IL4R:ENST00000395762.7:exon11:c.A1199C:p.E400A 217.760174751282 7.74997520446777 0.9955 0.794
1:220024283:G:T rs2230301 1 220024283 G T EPRS1 nonsynonymous SNV EPRS1:ENST00000366923.8:exon8:c.C924A:p.D308E 198.487864017487 15.7838973999023 0.998 4.0045
1:241958494:G:T rs3851304 1 241958494 G T BECN2 nonsynonymous SNV BECN2:ENST00000419583.2:exon1:c.G728T:p.R243M 189.716656684875 12.6470794677734 0.133 0.8345
1:54785641:G:A rs2270002 1 54785641 G A TTC22 stopgain TTC22:ENST00000371274.8:exon6:c.C1024T:p.R342X 172.047196388245 11.802038192749 0.0755 0.0925
1:13150192:C:G rs71629804 1 13150192 C G PRAMEF26 nonsynonymous SNV PRAMEF26:ENST00000697343.1:exon5:c.G925C:p.G309R 167.953059196472 7.89846801757812 0.0005 -0.09
9:83643770:A:C rs1052690 9 83643770 A C IDNK nonsynonymous SNV IDNK:ENST00000376419.5:exon5:c.A554C:p.K185T,IDNK:ENST00000454393.5:exon5:c.A416C:p.K139T 164.850871086121 10.8660430908203 0.0105 1.133
11:74129765:T:G rs11236013 11 74129765 T G C2CD3 nonsynonymous SNV C2CD3:ENST00000680718.1:exon8:c.A1295C:p.Q432P -152.93701171875 -13.5126953125 0.1205 0.0595
11:111878625:A:T rs611010 11 111878625 A T ENSG00000258529;FDXACB1 nonsynonymous SNV FDXACB1:ENST00000260257.9:exon2:c.T260A:p.I87N,ENSG00000258529:ENST00000622211.4:exon2:c.T260A:p.I87N 148.255817890167 17.8057594299316 1.0 6.7315
11:78209884:A:G rs2511188 11 78209884 A G USP35 nonsynonymous SNV USP35:ENST00000530267.5:exon5:c.A733G:p.I245V,USP35:ENST00000526425.1:exon7:c.A1222G:p.I408V,USP35:ENST00000529308.6:exon10:c.A2029G:p.I677V 144.624717950821 5.42246627807617 0.0 -1.0735
10:5960405:T:G rs2228059 10 5960405 T G IL15RA nonsynonymous SNV IL15RA:ENST00000379971.5:exon2:c.A251C:p.N84T,IL15RA:ENST00000397250.6:exon2:c.A251C:p.N84T,IL15RA:ENST00000528354.5:exon3:c.A446C:p.N149T,IL15RA:ENST00000530685.5:exon3:c.A446C:p.N149T,IL15RA:ENST00000379977.8:exon4:c.A545C:p.N182T,IL15RA:ENST00000397255.7:exon4:c.A545C:p.N182T,IL15RA:ENST00000525219.6:exon4:c.A437C:p.N146T,IL15RA:ENST00000397248.6:exon5:c.A803C:p.N268T,IL15RA:ENST00000397251.7:exon5:c.A698C:p.N233T,IL15RA:ENST00000620345.4:exon5:c.A698C:p.N233T,IL15RA:ENST00000620865.4:exon5:c.A698C:p.N233T,IL15RA:ENST00000622442.4:exon5:c.A698C:p.N233T 144.60782623291 3.8642578125 0.025 0.3645
2:96972301:A:G rs1730120 2 96972301 A G FAM178B nonsynonymous SNV FAM178B:ENST00000490605.3:exon3:c.T164C:p.V55A 144.043834686279 14.3248443603534 0.0 -2.6035
9:14816:C:G rs200377821 9 14816 C G WASHC1 nonsynonymous SNV WASHC1:ENST00000442898.5:exon11:c.G1389C:p.W463C,WASHC1:ENST00000696149.1:exon11:c.G1389C:p.W463C -142.308996200562 -65.3234558105469 1.0 5.303
2:227366229:G:A rs76547437 2 227366229 G A TM4SF20 nonsynonymous SNV TM4SF20:ENST00000304568.4:exon3:c.C265T:p.L89F 142.167678833008 10.2265625 0.041 -1.2735
1:15807577:C:T rs61744357 1 15807577 C T UQCRHL nonsynonymous SNV UQCRHL:ENST00000483273.2:exon1:c.G73A:p.E25K,UQCRHL:ENST00000696689.1:exon1:c.G73A:p.E25K 140.549895763397 -3.859375 0.884 0.27
15:45073526:C:T rs2412946 15 45073526 C T SORD nonsynonymous SNV SORD:ENST00000267814.14:exon9:c.C1070T:p.P357L -139.981263160706 -1.63761520385742 0.507 1.924
19:15794695:T:C rs62106066 19 15794695 T C OR10H5 nonsynonymous SNV OR10H5:ENST00000308940.8:exon1:c.T647C:p.L216P,OR10H5:ENST00000642092.2:exon2:c.T647C:p.L216P 139.206703662872 2.93283462524414 0.019 0.9965
12:120446488:C:T rs17431446 12 120446488 C T GATC nonsynonymous SNV GATC:ENST00000551765.6:exon1:c.C8T:p.S3L -138.775132656097 -0.69875717162904 0.9405 0.235
19:49932605:C:T rs283526 19 49932605 C T ATF5 nonsynonymous SNV ATF5:ENST00000423777.7:exon3:c.C362T:p.P121L,ATF5:ENST00000595125.5:exon4:c.C362T:p.P121L 130.36828327179 10.065113067627 0.6365 0.2235
19:49427464:T:C rs4802605 19 49427464 T C GFY nonsynonymous SNV GFY:ENST00000610896.3:exon2:c.T1034C:p.V345A,GFY:ENST00000576655.5:exon3:c.T1034C:p.V345A 126.785627365112 11.7132568359375 0.0 -0.2325
19:54744086:C:T rs150145497 19 54744086 C T KIR2DL3 nonsynonymous SNV KIR2DL3:ENST00000342376.4:exon4:c.C662T:p.T221I 126.135431289675 9.454345703125 0.6875 0.4505
19:57445460:T:G rs7246856 19 57445460 T G ZNF749 nonsynonymous SNV ZNF749:ENST00000334181.5:exon3:c.T2312G:p.I771R 125.945783615112 15.1248550415039 0.0 -1.298
18:12124153:C:G rs11873244 18 12124153 C G ANKRD62 nonsynonymous SNV ANKRD62:ENST00000587848.3:exon12:c.C1471G:p.Q491E -124.382019042969 16.17529296875 1.0 4.228
14:103100448:C:T rs2297067 14 103100448 C T EXOC3L4 nonsynonymous SNV EXOC3L4:ENST00000380069.7:exon1:c.C229T:p.R77W,EXOC3L4:ENST00000688303.1:exon2:c.C229T:p.R77W -123.698923110962 -11.2960510253906 0.0 -0.1395
12:65914864:A:G rs10878345 12 65914864 A G HMGA2 nonsynonymous SNV HMGA2:ENST00000536545.5:exon4:c.A394G:p.R132G 123.55419921875 5.2900390625 0.0065 -0.5635
3:48286261:G:A rs9834095 3 48286261 G A ZNF589 nonsynonymous SNV ZNF589:ENST00000427617.6:exon4:c.G239A:p.S80N,ZNF589:ENST00000440261.6:exon5:c.G482A:p.S161N 123.257568359375 14.0732421875 0.484 0.4385
12:64353053:C:T rs73118352 12 64353053 C T C12orf56 nonsynonymous SNV C12orf56:ENST00000333722.9:exon2:c.G256A:p.D86N,C12orf56:ENST00000543942.7:exon2:c.G256A:p.D86N 122.923286437988 10.7810668945312 1.0 2.2915
1:113905767:C:T rs11552449 1 113905767 C T DCLRE1B nonsynonymous SNV DCLRE1B:ENST00000650450.2:exon1:c.C181T:p.H61Y,DCLRE1B:ENST00000650596.1:exon1:c.C181T:p.H61Y -122.914941310883 0.0839519500714232 0.9925 2.6855
19:41410644:C:A rs11549936 19 41410644 C A BCKDHA;ENSG00000255730 nonsynonymous SNV BCKDHA:ENST00000269980.7:exon2:c.C116A:p.P39H,ENSG00000255730:ENST00000540732.3:exon3:c.C218A:p.P73H 122.908257484436 8.35470008850098 0.0695 -0.5325
2:181604076:T:G rs61750041 2 181604076 T G CERKL nonsynonymous SNV CERKL:ENST00000339098.9:exon2:c.A242C:p.D81A,CERKL:ENST00000374969.6:exon2:c.A242C:p.D81A,CERKL:ENST00000374970.6:exon2:c.A242C:p.D81A,CERKL:ENST00000409440.7:exon2:c.A242C:p.D81A,CERKL:ENST00000410087.8:exon2:c.A242C:p.D81A 121.08166885376 12.01953125 0.9995 1.4695
7:100776465:A:G rs314300 7 100776465 A G ZAN nonsynonymous SNV ZAN:ENST00000546292.2:exon33:c.A6218G:p.N2073S,ZAN:ENST00000618565.4:exon33:c.A6218G:p.N2073S,ZAN:ENST00000613979.5:exon34:c.A6218G:p.N2073S,ZAN:ENST00000620596.4:exon34:c.A6218G:p.N2073S 121.037176132202 -10.8228759765625 0.5 3.311
22:22515418:A:C rs361959 22 22515418 A C ZNF280A nonsynonymous SNV ZNF280A:ENST00000302097.3:exon2:c.T213G:p.N71K 119.914823532104 10.1714668273926 0.0085 0.1105
17:2980294:C:A rs17762452 17 2980294 C A RAP1GAP2 nonsynonymous SNV RAP1GAP2:ENST00000697392.1:exon7:c.C463A:p.L155M,RAP1GAP2:ENST00000366401.8:exon8:c.C559A:p.L187M,RAP1GAP2:ENST00000697391.1:exon8:c.C631A:p.L211M,RAP1GAP2:ENST00000254695.13:exon9:c.C604A:p.L202M,RAP1GAP2:ENST00000540393.6:exon9:c.C547A:p.L183M,RAP1GAP2:ENST00000637138.1:exon10:c.C727A:p.L243M -119.818895578385 -6.15152740478516 1.0 1.9415
1:212836127:A:G rs10864004 1 212836127 A G SPATA45 nonsynonymous SNV SPATA45:ENST00000332912.3:exon2:c.T23C:p.I8T 115.400883674622 11.734375 0.0005 -1.968
5:113553185:A:T rs72805422 5 113553185 A T YTHDC2 nonsynonymous SNV YTHDC2:ENST00000161863.9:exon13:c.A1693T:p.T565S,YTHDC2:ENST00000515883.5:exon13:c.A1693T:p.T565S 114.445713043213 13.9125366210938 1.0 5.2465
3:42865620:A:C rs2228468 3 42865620 A C ACKR2 nonsynonymous SNV ACKR2:ENST00000442925.5:exon2:c.A1118C:p.Y373S,ACKR2:ENST00000422265.6:exon3:c.A1118C:p.Y373S -112.177447080612 -1.12014579772949 0.0005 0.3065
11:125038456:T:C rs7107487 11 125038456 T C CCDC15 nonsynonymous SNV CCDC15:ENST00000344762.6:exon14:c.T2437C:p.C813R,CCDC15:ENST00000529051.5:exon14:c.T2437C:p.C813R 108.933784484863 3.87459945678529 0.998 2.982
17:7944637:C:A rs11650083 17 7944637 C A CNTROB nonsynonymous SNV CNTROB:ENST00000380262.7:exon12:c.C1733A:p.P578Q,CNTROB:ENST00000563694.6:exon12:c.C1733A:p.P578Q,CNTROB:ENST00000565740.5:exon12:c.C1733A:p.P578Q 108.76757621765 -1.21145057678223 0.248 0.1625
1:179351443:A:G rs13306731 1 179351443 A G SOAT1 nonsynonymous SNV SOAT1:ENST00000539888.5:exon14:c.A1382G:p.Q461R,SOAT1:ENST00000540564.5:exon14:c.A1403G:p.Q468R,SOAT1:ENST00000367619.8:exon15:c.A1577G:p.Q526R 108.01443862915 -3.7568359375 0.9025 0.8735
4:98128442:A:G rs17558193 4 98128442 A G STPG2 nonsynonymous SNV STPG2:ENST00000295268.4:exon3:c.T373C:p.Y125H 106.202423095703 -14.1839904785174 0.992 2.4535
3:48927645:A:C rs34221642 3 48927645 A C ARIH2 nonsynonymous SNV ARIH2:ENST00000356401.9:exon3:c.A87C:p.E29D,ARIH2:ENST00000449376.5:exon4:c.A87C:p.E29D 103.849406957626 16.8149909973145 0.5 1.9375
19:55014218:C:T rs10418074 19 55014218 C T GP6 nonsynonymous SNV GP6:ENST00000310373.7:exon8:c.G1727A:p.R576K 103.370473861694 16.6500396728516 0.0355 0.267
7:67278841:A:G rs199949880 7 67278841 A G SPDYE21 nonsynonymous SNV SPDYE21:ENST00000424157.4:exon2:c.A128G:p.E43G -102.567848205566 -24.5014953613281 0.7795 0.622
19:43354426:G:A rs77156507 19 43354426 G A CD177 nonsynonymous SNV CD177:ENST00000607855.5:exon3:c.G413A:p.G138D 102.099760532379 9.32796096801576 0.0 -0.201
11:8671858:G:A rs11517718 11 8671858 G A TRIM66 nonsynonymous SNV TRIM66:ENST00000646038.2:exon6:c.C268T:p.R90C 100.967250823975 13.9585418701154 1.0 2.1135
1:12861721:C:T rs143879460 1 12861721 C T PRAMEF2 nonsynonymous SNV PRAMEF2:ENST00000240189.2:exon4:c.C1367T:p.P456L 99.5341491699219 2.06377410888672 0.001 -0.189
10:59792934:G:T rs1053266 10 59792934 G T CCDC6 nonsynonymous SNV CCDC6:ENST00000263102.7:exon9:c.C1408A:p.P470T 98.458770275116 6.02718353271302 1.0 5.1635
2:227089883:G:A rs2229814 2 227089883 G A COL4A4 nonsynonymous SNV COL4A4:ENST00000396625.5:exon21:c.C1444T:p.P482S 96.1093444824219 4.61572265625 0.6825 0.71
15:58279202:A:T rs72739147 15 58279202 A T ALDH1A2 startloss ALDH1A2:ENST00000558231.5:exon1:c.T2A:p.M1? 96.091552734375 14.9281005859393 0.0 -0.7515
6:36426039:A:G rs664370 6 36426039 A G PXT1 nonsynonymous SNV PXT1:ENST00000454782.3:exon3:c.T44C:p.V15A 94.5870666503888 -3.52734375 0.983 1.0925
11:1837342:C:T rs2292474 11 1837342 C T SYT8 nonsynonymous SNV SYT8:ENST00000341958.4:exon8:c.C1075T:p.R359W,SYT8:ENST00000381968.7:exon9:c.C1117T:p.R373W 94.4192624092102 35.8516674041748 1.0 4.825
13:49476484:A:G rs7998427 13 49476484 A G SETDB2 nonsynonymous SNV SETDB2:ENST00000317257.12:exon5:c.A314G:p.E105G,SETDB2:ENST00000611815.2:exon6:c.A314G:p.E105G,SETDB2:ENST00000354234.8:exon7:c.A350G:p.E117G 94.3220310211182 7.63397979736146 0.6345 1.7175
2:178436252:A:T rs77419724 2 178436252 A T PRKRA nonsynonymous SNV PRKRA:ENST00000677981.1:exon5:c.T425A:p.I142N,PRKRA:ENST00000432031.6:exon6:c.T644A:p.I215N,PRKRA:ENST00000677689.1:exon6:c.T422A:p.I141N,PRKRA:ENST00000678845.1:exon6:c.T338A:p.I113N,PRKRA:ENST00000325748.9:exon7:c.T677A:p.I226N,PRKRA:ENST00000487082.5:exon7:c.T602A:p.I201N,PRKRA:ENST00000678775.1:exon7:c.T338A:p.I113N 94.1540050506592 8.4404296875 1.0 5.215
1:26884230:T:C rs3170660 1 26884230 T C GPN2 nonsynonymous SNV GPN2:ENST00000374133.3:exon3:c.A253G:p.R85G,GPN2:ENST00000374135.9:exon4:c.A790G:p.R264G 91.8484659194964 11.0226440429688 0.5065 2.5795
22:36265600:G:A rs136176 22 36265600 G A APOL1 nonsynonymous SNV APOL1:ENST00000426053.5:exon5:c.G710A:p.R237K,APOL1:ENST00000397278.8:exon6:c.G764A:p.R255K,APOL1:ENST00000427990.6:exon6:c.G764A:p.R255K,APOL1:ENST00000319136.8:exon7:c.G812A:p.R271K,APOL1:ENST00000438034.6:exon7:c.G851A:p.R284K 91.5475292205811 13.1600952148438 0.0 -4.6565
5:140552043:A:AGT rs3085220 5 140552043 A AGT SRA1 stopgain SRA1:ENST00000336283.9:exon3:c.293delinsACT:p.V98Dfs*2 -91.4366593360901 -37.8184700012189 0.05 0.874
1:121374827:A:G rs61806690 1 121374827 A G SRGAP2C nonsynonymous SNV SRGAP2C:ENST00000304465.7:exon4:c.A245G:p.H82R,SRGAP2C:ENST00000367123.8:exon7:c.A704G:p.H235R -89.1401698589325 4.12527465820131 0.9955 4.1605
6:57052722:T:C rs36113897 6 57052722 T C KIAA1586 nonsynonymous SNV KIAA1586:ENST00000545356.5:exon3:c.T142C:p.F48L,KIAA1586:ENST00000370733.5:exon4:c.T223C:p.F75L 89.0646514892578 12.3867034912091 0.001 0.3475
22:22646786:A:G rs2904923 22 22646786 A G GGTLC2 nonsynonymous SNV GGTLC2:ENST00000417145.2:exon2:c.A209G:p.E70G,GGTLC2:ENST00000448514.3:exon3:c.A209G:p.E70G,GGTLC2:ENST00000480559.6:exon3:c.A209G:p.E70G 89.0391035079956 19.439769744873 0.962 2.034
6:43282972:G:C rs3800295 6 43282972 G C TTBK1 nonsynonymous SNV TTBK1:ENST00000259750.9:exon14:c.G2232C:p.E744D 88.1293087005615 -3.01783180236816 0.5 1.1895
1:241788027:C:T rs12074374 1 241788027 C T WDR64 nonsynonymous SNV WDR64:ENST00000366552.6:exon23:c.C2854T:p.R952W,WDR64:ENST00000437684.7:exon24:c.C2884T:p.R962W 87.948522567749 -4.27259445190248 0.0485 0.1455
16:10906991:G:C rs4774 16 10906991 G C CIITA nonsynonymous SNV CIITA:ENST00000324288.14:exon11:c.G1499C:p.G500A,CIITA:ENST00000618327.4:exon11:c.G1502C:p.G501A 87.0515129566193 0.38458251953125 0.904 0.359
19:54816505:C:T rs605219 19 54816505 C T KIR3DL1 nonsynonymous SNV KIR3DL1:ENST00000326542.11:exon1:c.C5T:p.S2L,KIR3DL1:ENST00000358178.4:exon1:c.C5T:p.S2L,KIR3DL1:ENST00000391728.8:exon1:c.C5T:p.S2L -86.8607940673828 0.76611328125 0.0 -0.7625
10:5958296:T:C rs17320853 10 5958296 T C IL15RA nonsynonymous SNV IL15RA:ENST00000620865.4:exon7:c.A825G:p.I275M 86.76318359375 -15.986328125 0.0 -0.242
1:120466107:C:G rs878920914 1 120466107 C G NBPF8 stopgain NBPF8:ENST00000698216.1:exon23:c.C2715G:p.Y905X -86.5531558990479 3.81134033203307 0.0015 0.4255
5:95755497:A:G rs34899 5 95755497 A G RHOBTB3 nonsynonymous SNV RHOBTB3:ENST00000379982.8:exon6:c.A784G:p.N262D -85.9557151794434 6.607421875 0.996 3.069
6:31034675:A:G rs3869098 6 31034675 A G MUC22 nonsynonymous SNV MUC22:ENST00000561890.1:exon4:c.A5059G:p.N1687D 85.9091033935547 14.9821777343732 0.0 -0.364
16:1487600:A:G rs2667674 16 1487600 A G PTX4 nonsynonymous SNV PTX4:ENST00000293922.1:exon2:c.T497C:p.L166P,PTX4:ENST00000447419.7:exon2:c.T512C:p.L171P -84.9411497116089 -27.7164535522461 0.2095 2.0155
12:56267121:G:T rs60542959 12 56267121 G T COQ10A startloss COQ10A:ENST00000308197.10:exon1:c.G3T:p.M1? -84.9055104255676 -1.27033233642578 0.999 2.236
17:63998717:C:G rs62070903 17 63998717 C G PRR29 nonsynonymous SNV PRR29:ENST00000412177.6:exon2:c.C71G:p.T24S,PRR29:ENST00000425164.7:exon2:c.C71G:p.T24S,PRR29:ENST00000577953.5:exon2:c.C71G:p.T24S -84.8391075134277 -1.14051246643066 0.507 1.2695
1:161220460:T:C rs4503368 1 161220460 T C FCER1G nonsynonymous SNV FCER1G:ENST00000367992.7:exon5:c.T269C:p.L90P 84.6943359375 15.1640625 0.0 -2.4945
7:101128436:G:A rs6092 7 101128436 G A SERPINE1 nonsynonymous SNV SERPINE1:ENST00000223095.5:exon2:c.G43A:p.A15T -84.5833826065082 15.8113327026367 1.0 1.0095
8:66152419:A:G rs7843605 8 66152419 A G TRIM55 nonsynonymous SNV TRIM55:ENST00000276573.11:exon8:c.A1028G:p.K343R,TRIM55:ENST00000315962.9:exon8:c.A1028G:p.K343R,TRIM55:ENST00000353317.9:exon8:c.A1028G:p.K343R 84.5112915039062 16.529296875 0.2505 -0.066
21:42903610:C:T rs4148974 21 42903610 C T NDUFV3 stopgain NDUFV3:ENST00000354250.7:exon3:c.C598T:p.R200X -84.4086360931396 -27.6060028076172 0.0 0.3185
12:20875274:G:C rs60140950 12 20875274 G C SLCO1B3;SLCO1B3-SLCO1B7 nonsynonymous SNV SLCO1B3:ENST00000261196.6:exon7:c.G767C:p.G256A,SLCO1B3-SLCO1B7:ENST00000540229.1:exon7:c.G767C:p.G256A,SLCO1B3:ENST00000381545.8:exon9:c.G767C:p.G256A 84.0323600769043 -9.4683952331543 0.994 3.931
19:5844781:A:C rs28362459 19 5844781 A C FUT3 nonsynonymous SNV FUT3:ENST00000458379.7:exon2:c.T59G:p.L20R,FUT3:ENST00000303225.12:exon3:c.T59G:p.L20R,FUT3:ENST00000589620.6:exon3:c.T59G:p.L20R,FUT3:ENST00000589918.5:exon3:c.T59G:p.L20R 83.7374963760376 -13.5839195251447 0.0065 0.038
6:57052740:G:A rs6926980 6 57052740 G A KIAA1586 nonsynonymous SNV KIAA1586:ENST00000545356.5:exon3:c.G160A:p.V54M,KIAA1586:ENST00000370733.5:exon4:c.G241A:p.V81M 83.435173034668 12.1644744873065 0.7445 0.2655
12:6580639:G:A rs7311397 12 6580639 G A ENSG00000285238 nonsynonymous SNV ENSG00000285238:ENST00000644480.2:exon34:c.C4949T:p.P1650L -83.1151123046875 4.5615234375 0.04 -0.301
15:83112847:T:G rs79470022 15 83112847 T G TM6SF1 nonsynonymous SNV TM6SF1:ENST00000322019.14:exon2:c.T143G:p.L48R,TM6SF1:ENST00000379390.10:exon2:c.T143G:p.L48R,TM6SF1:ENST00000565774.5:exon2:c.T143G:p.L48R -82.1967875957489 -60.8735046386719 0.9985 4.027
7:92447889:G:A rs10281879 7 92447889 G A GATAD1 nonsynonymous SNV GATAD1:ENST00000287957.5:exon1:c.G160A:p.G54S 81.7620015144348 5.87833976745605 1.0 1.6995
15:99131560:G:C rs5030698 15 99131560 G C SYNM nonsynonymous SNV SYNM:ENST00000336292.11:exon4:c.G3200C:p.R1067P,SYNM:ENST00000560674.5:exon4:c.G2342C:p.R781P,SYNM:ENST00000594047.2:exon4:c.G3200C:p.R1067P -81.7375838756561 -43.7077903747559 0.999 2.125
14:21057920:C:T rs12437266 14 21057920 C T RNASE8 nonsynonymous SNV RNASE8:ENST00000308227.2:exon1:c.C28T:p.P10S 81.4573745727539 14.5318145751953 0.0 -1.005
11:47285079:C:T rs35233100 11 47285079 C T MADD stopgain MADD:ENST00000706891.1:exon12:c.C2092T:p.R698X,MADD:ENST00000311027.9:exon13:c.C2296T:p.R766X,MADD:ENST00000342922.8:exon13:c.C2296T:p.R766X,MADD:ENST00000349238.7:exon13:c.C2296T:p.R766X,MADD:ENST00000395336.7:exon13:c.C2296T:p.R766X,MADD:ENST00000402192.6:exon13:c.C2296T:p.R766X,MADD:ENST00000634938.2:exon13:c.C2296T:p.R766X,MADD:ENST00000706887.1:exon13:c.C2296T:p.R766X,MADD:ENST00000706890.1:exon13:c.C2296T:p.R766X -81.4356675148006 -36.6361923217773 1.0 3.3345
3:184056974:C:A rs6766410 3 184056974 C A HTR3C nonsynonymous SNV HTR3C:ENST00000318351.2:exon5:c.C489A:p.N163K -81.3859372138959 -5.23487091064453 0.4905 0.826
2:236195054:G:T rs10177957 2 236195054 G T ASB18 nonsynonymous SNV ASB18:ENST00000645891.1:exon5:c.C1132A:p.H378N,ASB18:ENST00000409749.8:exon6:c.C1219A:p.H407N -80.8486948013306 2.73334503173464 0.7635 2.245
6:85489515:A:G rs2229523 6 85489515 A G NT5E nonsynonymous SNV NT5E:ENST00000257770.8:exon6:c.A1126G:p.T376A,NT5E:ENST00000369651.7:exon6:c.A1126G:p.T376A 80.7335090637207 5.28387451171875 0.0865 2.1165
17:58521630:T:A rs17741424 17 58521630 T A SEPTIN4 nonsynonymous SNV SEPTIN4:ENST00000579371.5:exon7:c.A635T:p.E212V,SEPTIN4:ENST00000580844.5:exon7:c.A635T:p.E212V,SEPTIN4:ENST00000317256.10:exon8:c.A875T:p.E292V,SEPTIN4:ENST00000317268.7:exon8:c.A932T:p.E311V,SEPTIN4:ENST00000393086.5:exon8:c.A875T:p.E292V,SEPTIN4:ENST00000412945.7:exon8:c.A908T:p.E303V,SEPTIN4:ENST00000583114.5:exon8:c.A491T:p.E164V,SEPTIN4:ENST00000457347.6:exon9:c.A977T:p.E326V,SEPTIN4:ENST00000672699.1:exon9:c.A977T:p.E326V,SEPTIN4:ENST00000672673.2:exon10:c.A2486T:p.E829V 80.0633499622345 -39.4631690979004 1.0 5.646
1:47260415:T:C rs13376679 1 47260415 T C STIL nonsynonymous SNV STIL:ENST00000371877.8:exon16:c.A2954G:p.H985R,STIL:ENST00000396221.6:exon16:c.A2900G:p.H967R,STIL:ENST00000360380.7:exon17:c.A2951G:p.H984R,STIL:ENST00000682977.1:exon17:c.A2813G:p.H938R,STIL:ENST00000337817.10:exon18:c.A2813G:p.H938R,STIL:ENST00000447475.7:exon18:c.A2759G:p.H920R 79.910831451416 19.57763671875 0.0 -0.025
19:53258487:T:C rs2965249 19 53258487 T C VN1R2 nonsynonymous SNV VN1R2:ENST00000341702.3:exon1:c.T112C:p.C38R 79.6589870452881 18.589225769043 0.0015 -0.2075
19:3752876:A:G rs8102086 19 3752876 A G APBA3 nonsynonymous SNV APBA3:ENST00000316757.4:exon7:c.T1126C:p.C376R 79.5576999187469 3.61456108093262 0.807 1.588
1:160610759:G:T rs3796504 1 160610759 G T SLAMF1 nonsynonymous SNV SLAMF1:ENST00000302035.11:exon7:c.C997A:p.P333T -79.1863403320312 -20.1210021972656 0.904 1.8325
7:12379482:A:T rs6967241 7 12379482 A T VWDE nonsynonymous SNV VWDE:ENST00000275358.8:exon6:c.T874A:p.F292I -78.3543434143066 1.68041992187318 0.995 2.091
7:100218633:C:A rs1727143 7 100218633 C A ENSG00000292277 nonsynonymous SNV ENSG00000292277:ENST00000710637.1:exon6:c.C479A:p.P160Q -78.1484375 1.7509765625 0.0 -0.7305
16:21179532:A:C rs1063087 16 21179532 A C LDAF1 nonsynonymous SNV LDAF1:ENST00000233047.9:exon5:c.A462C:p.E154D,LDAF1:ENST00000261388.7:exon5:c.A462C:p.E154D,LDAF1:ENST00000451578.6:exon6:c.A534C:p.E178D,LDAF1:ENST00000572599.5:exon6:c.A462C:p.E154D 78.0753784179688 -2.44604492187682 0.0 -0.016
11:8640543:T:C rs11042022 11 8640543 T C TRIM66 nonsynonymous SNV TRIM66:ENST00000525788.2:exon9:c.A1397G:p.H466R,TRIM66:ENST00000705690.1:exon9:c.A1397G:p.H466R,TRIM66:ENST00000646038.2:exon14:c.A1832G:p.H611R,TRIM66:ENST00000705689.1:exon14:c.A1721G:p.H574R 78.0233008861542 8.03222465515137 0.002 0.1145
9:76323127:G:A rs2495207 9 76323127 G A PCSK5 nonsynonymous SNV PCSK5:ENST00000545128.5:exon31:c.G4097A:p.R1366H,PCSK5:ENST00000674117.1:exon32:c.G4178A:p.R1393H 77.9236183166504 1.75390625 0.0 -0.218
12:103986956:G:A rs2888805 12 103986956 G A TDG nonsynonymous SNV TDG:ENST00000544861.5:exon9:c.G670A:p.V224M,TDG:ENST00000392872.8:exon10:c.G1099A:p.V367M,TDG:ENST00000266775.13:exon11:c.G1087A:p.V363M -77.408935546875 -9.3878173828125 0.0005 -0.1135
19:55014228:T:C rs1654412 19 55014228 T C GP6 nonsynonymous SNV GP6:ENST00000310373.7:exon8:c.A1717G:p.R573G 77.3799324035645 14.034076690672 0.0105 -0.258
9:113320367:C:G rs41307479 9 113320367 C G WDR31 nonsynonymous SNV WDR31:ENST00000341761.8:exon9:c.G767C:p.C256S,WDR31:ENST00000374193.9:exon9:c.G770C:p.C257S -77.3452043533325 -27.7905883789081 1.0 4.8005
22:30531988:C:T rs5749118 22 30531988 C T SEC14L6 nonsynonymous SNV SEC14L6:ENST00000402034.7:exon6:c.G434A:p.R145K,SEC14L6:ENST00000687231.1:exon6:c.G272A:p.R91K,SEC14L6:ENST00000687338.1:exon6:c.G272A:p.R91K -77.1510972976685 0.113105773923962 0.986 2.9185
22:46260582:A:G rs6519993 22 46260582 A G PKDREJ nonsynonymous SNV PKDREJ:ENST00000253255.7:exon1:c.T2741C:p.L914P 76.743724822998 2.20698547363281 1.0 4.845
1:11771538:G:A rs55990971 1 11771538 G A C1orf167 nonsynonymous SNV C1orf167:ENST00000433342.6:exon7:c.G1226A:p.R409K,C1orf167:ENST00000688073.1:exon7:c.G1712A:p.R571K 75.9179840087891 7.146484375 0.0065 0.32
6:131199515:G:A rs1190788 6 131199515 G A AKAP7 nonsynonymous SNV AKAP7:ENST00000431975.7:exon6:c.G644A:p.S215N,AKAP7:ENST00000541650.5:exon6:c.G641A:p.S214N,AKAP7:ENST00000683794.1:exon6:c.G644A:p.S215N 75.6683044433594 11.2132568359375 1.0 1.1365
14:23103494:C:T rs7152493 14 23103494 C T CIROP nonsynonymous SNV CIROP:ENST00000637218.2:exon5:c.G658A:p.A220T 75.5635080337524 8.33282470703125 0.1005 0.483
17:35764059:C:G rs4795087 17 35764059 C G C17orf50 nonsynonymous SNV C17orf50:ENST00000603305.1:exon2:c.C88G:p.R30G,C17orf50:ENST00000604830.1:exon2:c.C66G:p.D22E,C17orf50:ENST00000605587.2:exon2:c.C66G:p.D22E -75.3041610717773 3.22441864013854 0.2025 0.833
3:130443551:A:G rs9883988 3 130443551 A G COL6A5 nonsynonymous SNV COL6A5:ENST00000373157.9:exon36:c.A6563G:p.Q2188R,COL6A5:ENST00000512836.6:exon36:c.A6563G:p.Q2188R 75.2773132324219 6.72265625 0.0 -0.3745
15:41857308:G:C rs12442525 15 41857308 G C SPTBN5 nonsynonymous SNV SPTBN5:ENST00000320955.8:exon51:c.C8551G:p.Q2851E 75.1588268280029 8.42357444763002 1.0 2.6045
20:63569223:G:A rs6090457 20 63569223 G A HELZ2 nonsynonymous SNV HELZ2:ENST00000467148.2:exon5:c.C1013T:p.S338L 74.8846225738525 12.91042137146 1.0 3.9295
2:85309292:G:A rs11547160 2 85309292 G A TCF7L1 nonsynonymous SNV TCF7L1:ENST00000282111.4:exon12:c.G1597A:p.G533R 74.6420564651489 2.4879035949707 0.822 3.864
8:72023910:T:C rs959976 8 72023910 T C TRPA1 nonsynonymous SNV TRPA1:ENST00000262209.5:exon26:c.A3053G:p.H1018R 74.6418132781982 13.8883399963415 0.0065 0.1745
9:133403828:G:T rs33919837 9 133403828 G T STKLD1 nonsynonymous SNV STKLD1:ENST00000371957.4:exon15:c.G1603T:p.G535C -74.415968894959 -39.9169940948486 1.0 5.324
5:177992966:C:T rs1800197 5 177992966 C T PROP1 nonsynonymous SNV PROP1:ENST00000308304.2:exon3:c.G424A:p.A142T -74.210488319397 9.07197570800781 0.0 -0.2745
3:49312600:A:C rs35446411 3 49312600 A C USP4 nonsynonymous SNV USP4:ENST00000416417.5:exon7:c.T709G:p.L237V -74.05810546875 4.88671875 0.0005 -0.548
17:8340467:A:G rs12936935 17 8340467 A G ODF4 nonsynonymous SNV ODF4:ENST00000328248.7:exon1:c.A416G:p.Y139C 74.0062408447266 14.53955078125 0.415 1.1085
19:45409478:C:A rs3212986 19 45409478 C A POLR1G nonsynonymous SNV POLR1G:ENST00000309424.8:exon3:c.C1510A:p.Q504K,POLR1G:ENST00000589804.1:exon3:c.C1516A:p.Q506K 73.8393058776874 14.44775390625 0.006 -0.402
12:49838386:A:T rs11169172 12 49838386 A T BCDIN3D nonsynonymous SNV BCDIN3D:ENST00000333924.6:exon2:c.T864A:p.S288R 73.663369178772 0.521221160888672 0.013 -0.1525
19:52155257:T:C rs8113504 19 52155257 T C ZNF836 nonsynonymous SNV ZNF836:ENST00000597252.5:exon5:c.A2426G:p.N809S,ZNF836:ENST00000682614.1:exon5:c.A2426G:p.N809S 73.5381050109863 9.70004272460938 0.0 -2.9555
2:38882417:G:A rs3099950 2 38882417 G A MORN2 nonsynonymous SNV MORN2:ENST00000409077.2:exon3:c.G43A:p.E15K,MORN2:ENST00000409131.2:exon5:c.G76A:p.E26K,MORN2:ENST00000409665.5:exon5:c.G142A:p.E48K,MORN2:ENST00000410014.5:exon5:c.G142A:p.E48K,MORN2:ENST00000644631.4:exon5:c.G358A:p.E120K 73.3340182304382 6.21385192871094 1.0 5.984
9:136856712:G:A rs117093136 9 136856712 G A MAMDC4 nonsynonymous SNV MAMDC4:ENST00000317446.7:exon15:c.G1723A:p.V575I,MAMDC4:ENST00000445819.5:exon17:c.G1960A:p.V654I 73.2580919265743 11.7360858917232 0.1375 0.6645
5:75669297:G:A rs34358 5 75669297 G A ANKDD1B stopgain ANKDD1B:ENST00000672850.1:exon7:c.G680A:p.W227X,ANKDD1B:ENST00000672844.1:exon9:c.G1013A:p.W338X,ANKDD1B:ENST00000601380.4:exon13:c.G1439A:p.W480X -72.5384483337402 -29.8511734008789 1.0 7.7315
6:123512312:G:C rs6902416 6 123512312 G C TRDN nonsynonymous SNV TRDN:ENST00000334268.9:exon7:c.C601G:p.L201V,TRDN:ENST00000361029.9:exon7:c.C403G:p.L135V,TRDN:ENST00000546248.6:exon7:c.C601G:p.L201V,TRDN:ENST00000628709.2:exon7:c.C601G:p.L201V,TRDN:ENST00000662930.1:exon7:c.C601G:p.L201V,TRDN:ENST00000714023.1:exon7:c.C403G:p.L135V,TRDN:ENST00000714039.1:exon7:c.C403G:p.L135V -72.52978515625 -4.7578125 0.045 -0.139
6:85489525:T:C rs2229524 6 85489525 T C NT5E nonsynonymous SNV NT5E:ENST00000257770.8:exon6:c.T1136C:p.M379T,NT5E:ENST00000369651.7:exon6:c.T1136C:p.M379T 72.4894828796387 18.4927673339844 0.0055 0.62
20:9566371:C:G rs11700112 20 9566371 C G PAK5 nonsynonymous SNV PAK5:ENST00000353224.10:exon5:c.G1004C:p.R335P,PAK5:ENST00000378423.5:exon6:c.G1004C:p.R335P,PAK5:ENST00000378429.3:exon6:c.G1004C:p.R335P -71.9603049755096 -51.9258937835693 1.0 6.445
11:56105817:T:C rs61731255 11 56105817 T C OR8H2 nonsynonymous SNV OR8H2:ENST00000618136.1:exon1:c.T772C:p.Y258H,OR8H2:ENST00000313503.2:exon2:c.T775C:p.Y259H,OR8H2:ENST00000641311.1:exon2:c.T775C:p.Y259H 71.9271860122681 5.15158081054688 0.9995 4.4625
17:81671775:C:T rs11150805 17 81671775 C T CCDC137 nonsynonymous SNV CCDC137:ENST00000329214.13:exon4:c.C529T:p.R177W 71.8341064453125 14.3861083984375 0.002 0.22
5:35659137:G:A rs16902381 5 35659137 G A SPEF2 nonsynonymous SNV SPEF2:ENST00000282469.10:exon8:c.G1097A:p.R366K,SPEF2:ENST00000356031.8:exon8:c.G1097A:p.R366K,SPEF2:ENST00000440995.6:exon8:c.G1097A:p.R366K,SPEF2:ENST00000509059.5:exon8:c.G1097A:p.R366K,SPEF2:ENST00000637569.1:exon8:c.G1097A:p.R366K 71.8262085914612 11.331611633299 1.0 4.1135
18:31031022:C:T rs276938 18 31031022 C T DSC3 nonsynonymous SNV DSC3:ENST00000360428.9:exon3:c.G305A:p.R102K,DSC3:ENST00000434452.5:exon3:c.G305A:p.R102K 71.7305221557617 12.0895080566406 0.0375 1.1555
12:10118488:A:C rs16910526 12 10118488 A C CLEC7A stopgain CLEC7A:ENST00000396484.6:exon4:c.T477G:p.Y159X,CLEC7A:ENST00000353231.9:exon5:c.T576G:p.Y192X,CLEC7A:ENST00000304084.13:exon6:c.T714G:p.Y238X -71.381814956665 -2.6015625 0.9715 0.2685
4:99653664:C:G rs79703522 4 99653664 C G C4orf54 nonsynonymous SNV C4orf54:ENST00000511828.2:exon2:c.G985C:p.G329R 71.3694400787354 -10.1444931030273 0.0 -1.275
19:11238284:G:A rs12609039 19 11238284 G A DOCK6 nonsynonymous SNV DOCK6:ENST00000294618.12:exon15:c.C1664T:p.P555L,DOCK6:ENST00000587656.6:exon15:c.C1664T:p.P555L -71.2575035095215 -48.2656555175781 1.0 9.692
8:123427934:A:G rs6999234 8 123427934 A G NTAQ1 nonsynonymous SNV NTAQ1:ENST00000287387.7:exon2:c.A94G:p.I32V,NTAQ1:ENST00000523356.1:exon2:c.A94G:p.I32V 71.1644630432111 -4.19921875 1.0 4.8065
18:58538030:A:C rs12103986 18 58538030 A C ALPK2 nonsynonymous SNV ALPK2:ENST00000361673.4:exon5:c.T2157G:p.H719Q 70.9482498168945 14.876953125 0.002 -0.452
18:9255984:A:G rs4798791 18 9255984 A G ANKRD12 nonsynonymous SNV ANKRD12:ENST00000400020.7:exon8:c.A2648G:p.K883R,ANKRD12:ENST00000262126.9:exon9:c.A2717G:p.K906R 70.7507643699646 10.780403137207 0.512 2.995
1:156844235:G:A rs56252149 1 156844235 G A INSRR nonsynonymous SNV INSRR:ENST00000368195.4:exon15:c.C2783T:p.P928L -70.6858565807343 -34.637228012085 1.0 4.596
1:169514323:T:C rs6027 1 169514323 T C F5 nonsynonymous SNV F5:ENST00000367796.3:exon25:c.A6680G:p.D2227G,F5:ENST00000367797.9:exon25:c.A6665G:p.D2222G -70.5248198509216 -5.25650215148926 1.0 5.032
7:45866173:G:A rs6967436 7 45866173 G A CCDC201 nonsynonymous SNV CCDC201:ENST00000636578.2:exon2:c.C340T:p.R114W 70.3861999511723 15.3896484375 0.0 -0.3975
3:20002010:C:T rs9882323 3 20002010 C T PP2D1 nonsynonymous SNV PP2D1:ENST00000389050.5:exon2:c.G110A:p.R37H 69.845639705658 -0.370780944824219 0.0 -2.685
6:31765689:T:C rs3101017 6 31765689 T C VWA7 nonsynonymous SNV VWA7:ENST00000375688.5:exon17:c.A2581G:p.T861A 69.7541208267212 4.28476715088073 0.8595 1.621
3:50559661:G:A rs1034405 3 50559661 G A C3orf18 nonsynonymous SNV C3orf18:ENST00000422619.1:exon3:c.C329T:p.A110V,C3orf18:ENST00000426034.5:exon5:c.C485T:p.A162V,C3orf18:ENST00000441239.5:exon5:c.C425T:p.A142V,C3orf18:ENST00000449241.5:exon5:c.C485T:p.A162V,C3orf18:ENST00000357203.8:exon6:c.C485T:p.A162V -69.7506484985352 -6.70105361938477 1.0 6.609
2:218688745:C:T rs16859180 2 218688745 C T STK36 nonsynonymous SNV STK36:ENST00000295709.8:exon12:c.C1429T:p.R477W,STK36:ENST00000392105.7:exon12:c.C1429T:p.R477W,STK36:ENST00000440309.5:exon12:c.C1429T:p.R477W -69.4633283615112 -24.2202224731445 0.9995 2.179
4:40102197:G:A rs61748746 4 40102197 G A N4BP2 nonsynonymous SNV N4BP2:ENST00000261435.11:exon4:c.G352A:p.E118K 69.2687292098999 11.0789604187012 0.92 1.147
2:71431411:C:T rs11542286 2 71431411 C T ZNF638 nonsynonymous SNV ZNF638:ENST00000264447.9:exon26:c.C5735T:p.A1912V,ZNF638:ENST00000409544.5:exon26:c.C5735T:p.A1912V -68.9505615234375 0.42138671875 0.4665 1.1405
4:78066003:A:G rs4859905 4 78066003 A G FRAS1 nonsynonymous SNV FRAS1:ENST00000325942.11:exon2:c.A95G:p.D32G,FRAS1:ENST00000502446.6:exon2:c.A95G:p.D32G,FRAS1:ENST00000508900.2:exon2:c.A95G:p.D32G,FRAS1:ENST00000512123.4:exon2:c.A95G:p.D32G,FRAS1:ENST00000682513.1:exon2:c.A95G:p.D32G,FRAS1:ENST00000684159.1:exon2:c.A95G:p.D32G -68.6766471862793 -1.087890625 0.997 1.3945
3:42691976:T:C rs123509 3 42691976 T C KLHL40 nonsynonymous SNV KLHL40:ENST00000287777.5:exon6:c.T1849C:p.C617R 68.4882841110229 18.3208446502686 1.0 2.863
19:48875071:C:T rs595474 19 48875071 C T PPP1R15A nonsynonymous SNV PPP1R15A:ENST00000600406.2:exon2:c.C1838T:p.A613V 68.2910933494568 11.510217666626 0.001 -0.942
9:39103746:C:T rs7852039 9 39103746 C T CNTNAP3 nonsynonymous SNV CNTNAP3:ENST00000358144.6:exon14:c.G2270A:p.R757H,CNTNAP3:ENST00000297668.11:exon16:c.G2534A:p.R845H,CNTNAP3:ENST00000377656.6:exon16:c.G2531A:p.R844H 68.2654361724854 -2.83984375 0.001 0.2195
1:16033642:C:T rs12746751 1 16033642 C T CLCNKA nonsynonymous SNV CLCNKA:ENST00000439316.6:exon19:c.C1919T:p.P640L,CLCNKA:ENST00000331433.5:exon20:c.C2048T:p.P683L,CLCNKA:ENST00000375692.5:exon21:c.C2045T:p.P682L -68.1478137969971 -29.3536682128906 0.4745 0.442
19:5843773:A:T rs3894326 19 5843773 A T FUT3 nonsynonymous SNV FUT3:ENST00000458379.7:exon2:c.T1067A:p.I356K,FUT3:ENST00000303225.12:exon3:c.T1067A:p.I356K,FUT3:ENST00000589620.6:exon3:c.T1067A:p.I356K,FUT3:ENST00000589918.5:exon3:c.T1067A:p.I356K -68.1374876499171 -9.75762748718262 0.0005 0.715
17:3092278:G:A rs4300683 17 3092278 G A OR1D2 nonsynonymous SNV OR1D2:ENST00000641064.1:exon2:c.C719T:p.T240I,OR1D2:ENST00000641833.1:exon2:c.C719T:p.T240I 68.0485067367554 4.98838043212891 1.0 7.074
1:120460621:C:A rs1553250164 1 120460621 C A NBPF8 nonsynonymous SNV NBPF8:ENST00000698216.1:exon16:c.C1850A:p.P617H 67.7122039794922 -0.841796875 0.0135 -0.315
18:23845027:C:A rs17202961 18 23845027 C A LAMA3 nonsynonymous SNV LAMA3:ENST00000313654.14:exon30:c.C3622A:p.P1208T,LAMA3:ENST00000399516.7:exon30:c.C3622A:p.P1208T -67.3971366882324 -1.844970703125 1.0 5.96
7:37894544:T:C rs56128139 7 37894544 T C NME8 nonsynonymous SNV NME8:ENST00000440017.5:exon15:c.T1478C:p.I493T,NME8:ENST00000199447.9:exon16:c.T1478C:p.I493T 66.8953857421875 7.8353271484375 0.006 -0.1305
8:62999313:C:T rs12681818 8 62999313 C T NKAIN3 nonsynonymous SNV NKAIN3:ENST00000674864.1:exon7:c.C686T:p.A229V 66.6677246093768 11.474609375 0.0035 -0.588
1:12725782:C:T rs11121969 1 12725782 C T AADACL3 nonsynonymous SNV AADACL3:ENST00000359318.8:exon4:c.C1010T:p.P337L -66.5641021728516 -31.6589183807373 0.5 -2.175
6:29100982:C:A rs3131087 6 29100982 C A OR2J1 nonsynonymous SNV OR2J1:ENST00000377171.3:exon1:c.C40A:p.L14I,OR2J1:ENST00000641659.2:exon2:c.C40A:p.L14I 66.5514068603516 3.60960388183594 0.927 0.8085
3:195791459:C:G rs3107764 3 195791459 C G MUC4 nonsynonymous SNV MUC4:ENST00000463781.8:exon2:c.G121C:p.A41P,MUC4:ENST00000475231.5:exon2:c.G121C:p.A41P 66.2634582519513 4.82006835937136 0.0 -2.0205
19:39502920:T:G rs8107127 19 39502920 T G DLL3 nonsynonymous SNV DLL3:ENST00000205143.4:exon4:c.T515G:p.F172C,DLL3:ENST00000356433.10:exon4:c.T515G:p.F172C -65.7960696220398 -35.7256546020508 1.0 2.235
12:9916703:C:T rs526680 12 9916703 C T CLEC2A nonsynonymous SNV CLEC2A:ENST00000339766.8:exon4:c.G407A:p.G136D,CLEC2A:ENST00000455827.2:exon4:c.G407A:p.G136D -65.091438293457 3.57949829101562 0.0 -0.8685
2:130730100:A:C rs272128 2 130730100 A C GPR148 nonsynonymous SNV GPR148:ENST00000309926.4:exon1:c.A949C:p.T317P 64.6975574493413 41.2757625579834 0.8365 2.9925
12:92745572:A:G rs17790310 12 92745572 A G PLEKHG7 nonsynonymous SNV PLEKHG7:ENST00000344636.6:exon10:c.A1232G:p.D411G 64.548864364624 9.4658203125 1.0 5.4715
22:25826487:C:T rs9624909 22 25826487 C T MYO18B nonsynonymous SNV MYO18B:ENST00000335473.12:exon14:c.C2774T:p.S925L,MYO18B:ENST00000407587.6:exon14:c.C2774T:p.S925L,MYO18B:ENST00000536101.5:exon14:c.C2774T:p.S925L -64.5406336784363 -23.4446830749494 0.5 -0.752
1:26913429:C:G rs6659176 1 26913429 C G NR0B2 nonsynonymous SNV NR0B2:ENST00000254227.4:exon1:c.G512C:p.G171A -64.5177845954895 5.33734512329283 0.999 4.3355
8:13022030:A:G rs608052 8 13022030 A G TRMT9B nonsynonymous SNV TRMT9B:ENST00000524591.7:exon5:c.A1351G:p.R451G 64.501528263092 -0.374811172485352 0.0435 -0.0385
6:32979187:G:A rs206778 6 32979187 G A BRD2 nonsynonymous SNV BRD2:ENST00000395287.5:exon10:c.G1939A:p.D647N 64.4873352050781 10.658821105957 0.007 0.3405
9:33385243:C:A rs62542743 9 33385243 C A AQP7 nonsynonymous SNV AQP7:ENST00000379507.7:exon6:c.G788T:p.G263V,AQP7:ENST00000297988.6:exon8:c.G791T:p.G264V -64.2870597839355 -30.9145202636719 1.0 7.806
19:4510518:G:A rs7250947 19 4510518 G A PLIN4 nonsynonymous SNV PLIN4:ENST00000301286.5:exon5:c.C3442T:p.R1148C,PLIN4:ENST00000633942.1:exon5:c.C3445T:p.R1149C -64.2745838165283 -8.27128219604492 0.0 -1.9865
3:10148783:C:T rs1642743 3 10148783 C T VHL stopgain VHL:ENST00000713811.1:exon3:c.C547T:p.R183X -64.26513671875 9.30908203125 0.412 0.193
11:58031899:G:C rs1374570 11 58031899 G C OR6Q1 nonsynonymous SNV OR6Q1:ENST00000302622.4:exon1:c.G947C:p.G316A -64.0514183044415 0.715311050415039 0.0 0.3845
4:86849099:G:A rs17694522 4 86849099 G A SLC10A6 nonsynonymous SNV SLC10A6:ENST00000273905.7:exon1:c.C17T:p.S6F -63.8643641471863 -59.0558071136475 0.9565 2.132
12:26990575:G:A rs10771314 12 26990575 G A TM7SF3 nonsynonymous SNV TM7SF3:ENST00000343028.9:exon6:c.C743T:p.P248L 63.7357625961304 11.4455566406268 0.998 2.43
16:3204418:C:G rs61731432 16 3204418 C G OR1F1 nonsynonymous SNV OR1F1:ENST00000304646.3:exon4:c.C172G:p.P58A 63.7301158905029 13.341926574707 1.0 4.5815
18:58523821:G:A rs33969768 18 58523821 G A ALPK2 nonsynonymous SNV ALPK2:ENST00000361673.4:exon8:c.C5650T:p.R1884C 63.0005950927734 1.72427940368652 0.5055 1.677
19:21117659:A:G rs2884554 19 21117659 A G ZNF714 nonsynonymous SNV ZNF714:ENST00000456283.7:exon5:c.A995G:p.K332R 62.8677673339826 9.07772827148438 0.0145 0.713
5:177093242:G:A rs351855 5 177093242 G A FGFR4 nonsynonymous SNV FGFR4:ENST00000292408.9:exon9:c.G1162A:p.G388R,FGFR4:ENST00000502906.5:exon9:c.G1162A:p.G388R -62.8622591495514 -8.40790939331055 1.0 5.0695
9:2039793:A:C rs62534884 9 2039793 A C SMARCA2 nonsynonymous SNV SMARCA2:ENST00000704350.1:exon2:c.A323C:p.Q108P,SMARCA2:ENST00000349721.8:exon4:c.A683C:p.Q228P,SMARCA2:ENST00000357248.8:exon4:c.A683C:p.Q228P,SMARCA2:ENST00000382194.6:exon4:c.A683C:p.Q228P,SMARCA2:ENST00000382203.5:exon4:c.A683C:p.Q228P,SMARCA2:ENST00000450198.6:exon4:c.A683C:p.Q228P,SMARCA2:ENST00000636559.1:exon4:c.A683C:p.Q228P,SMARCA2:ENST00000636903.1:exon4:c.A683C:p.Q228P,SMARCA2:ENST00000637103.1:exon4:c.A683C:p.Q228P,SMARCA2:ENST00000637806.1:exon4:c.A683C:p.Q228P,SMARCA2:ENST00000704352.1:exon4:c.A683C:p.Q228P,SMARCA2:ENST00000704353.1:exon4:c.A683C:p.Q228P 62.6259059906006 11.7344303131104 0.947 0.162
17:48184809:C:T rs2278868 17 48184809 C T SKAP1 nonsynonymous SNV SKAP1:ENST00000336915.11:exon7:c.G481A:p.G161S,SKAP1:ENST00000584924.5:exon7:c.G481A:p.G161S 62.521755695343 5.13662719726381 0.974 1.5705
1:109202996:T:C rs1052878 1 109202996 T C ELAPOR1 nonsynonymous SNV ELAPOR1:ENST00000529753.5:exon20:c.T2765C:p.L922P,ELAPOR1:ENST00000369939.8:exon22:c.T3026C:p.L1009P 62.2775015830994 -2.64453125 0.54 0.253
21:36245332:T:G rs4817788 21 36245332 T G DOP1B nonsynonymous SNV DOP1B:ENST00000399151.3:exon19:c.T3352G:p.C1118G,DOP1B:ENST00000691173.1:exon19:c.T3352G:p.C1118G 62.2191743850708 4.94070053100586 0.938 2.4685
12:3281866:T:G rs564247 12 3281866 T G TSPAN9 nonsynonymous SNV TSPAN9:ENST00000407263.2:exon6:c.T697G:p.S233A 61.9011569023132 16.2592010498047 0.0 -0.1935
10:32567818:A:C rs12268559 10 32567818 A C CCDC7 nonsynonymous SNV CCDC7:ENST00000277657.12:exon16:c.A1346C:p.K449T,CCDC7:ENST00000362006.11:exon16:c.A1346C:p.K449T,CCDC7:ENST00000639629.2:exon16:c.A1346C:p.K449T 61.7652587890625 10.1025390625 0.005 0.092
3:37324968:C:A rs11718848 3 37324968 C A GOLGA4 nonsynonymous SNV GOLGA4:ENST00000361924.7:exon14:c.C3082A:p.Q1028K,GOLGA4:ENST00000356847.8:exon15:c.C3148A:p.Q1050K,GOLGA4:ENST00000437131.2:exon15:c.C3148A:p.Q1050K,GOLGA4:ENST00000699994.1:exon15:c.C3148A:p.Q1050K,GOLGA4:ENST00000699995.1:exon15:c.C3148A:p.Q1050K,GOLGA4:ENST00000699996.1:exon15:c.C3148A:p.Q1050K,GOLGA4:ENST00000431105.2:exon16:c.C3247A:p.Q1083K,GOLGA4:ENST00000706569.1:exon16:c.C3247A:p.Q1083K 61.64892578125 -8.12704467773438 1.0 6.9135
17:17992891:C:T rs4584886 17 17992891 C T DRC3 nonsynonymous SNV DRC3:ENST00000399182.5:exon6:c.C571T:p.R191W,DRC3:ENST00000399187.6:exon6:c.C571T:p.R191W,DRC3:ENST00000584166.5:exon7:c.C571T:p.R191W -61.5835509300214 -9.84495544433594 1.0 3.0235
19:23534296:C:T rs1088411 19 23534296 C T ZNF675 nonsynonymous SNV ZNF675:ENST00000600313.5:exon4:c.G248A:p.R83Q 61.455078125 -30.92626953125 0.0965 -0.979
5:141180333:C:T rs2740583 5 141180333 C T PCDHB8 nonsynonymous SNV PCDHB8:ENST00000239444.4:exon1:c.C2299T:p.L767F -61.2386560440063 1.93459892272767 0.3455 1.88
1:158642446:A:G rs863931 1 158642446 A G SPTA1 nonsynonymous SNV SPTA1:ENST00000643759.2:exon33:c.T4702C:p.C1568R 61.0495929718018 -1.73212051391602 0.731 0.597
7:128682980:A:G rs1109552 7 128682980 A G GARIN1A nonsynonymous SNV GARIN1A:ENST00000641605.1:exon5:c.A751G:p.I251V,GARIN1A:ENST00000682356.1:exon5:c.A724G:p.I242V,GARIN1A:ENST00000684498.1:exon5:c.A736G:p.I246V 60.7762603759766 -4.30078125 0.001 0.178
11:27340812:T:G rs17244028 11 27340812 T G CCDC34 nonsynonymous SNV CCDC34:ENST00000328697.11:exon5:c.A791C:p.E264A 60.7190971374512 8.8330078125 1.0 5.0285
3:53865249:C:T rs1043261 3 53865249 C T IL17RB stopgain IL17RB:ENST00000288167.8:exon11:c.C1450T:p.Q484X -60.6831011772156 -4.07334136963073 0.0 0.4945
8:11331243:G:A rs6990563 8 11331243 G A SLC35G5 nonsynonymous SNV SLC35G5:ENST00000382435.5:exon1:c.G137A:p.G46D -60.0875539779663 -25.623010635376 0.9875 1.8165
1:205161285:A:G rs3851294 1 205161285 A G DSTYK nonsynonymous SNV DSTYK:ENST00000367161.7:exon7:c.T1921C:p.C641R,DSTYK:ENST00000367162.8:exon7:c.T1921C:p.C641R 60.0607147216797 2.31667327880859 1.0 5.512
1:146988091:A:G rs200441040 1 146988091 A G NBPF12 nonsynonymous SNV NBPF12:ENST00000617931.4:exon28:c.A3254G:p.E1085G,NBPF12:ENST00000698835.1:exon29:c.A3254G:p.E1085G -59.921875 -37.111328125 0.0 -1.1675
3:94049424:C:G rs33944211 3 94049424 C G ARL13B nonsynonymous SNV ARL13B:ENST00000303097.11:exon6:c.C722G:p.T241S,ARL13B:ENST00000486562.2:exon6:c.C722G:p.T241S,ARL13B:ENST00000535334.5:exon7:c.C734G:p.T245S,ARL13B:ENST00000679607.1:exon7:c.C206G:p.T69S,ARL13B:ENST00000394222.8:exon8:c.C1043G:p.T348S,ARL13B:ENST00000471138.5:exon8:c.C1043G:p.T348S,ARL13B:ENST00000679587.1:exon8:c.C1043G:p.T348S,ARL13B:ENST00000679666.1:exon8:c.C671G:p.T224S,ARL13B:ENST00000679404.1:exon9:c.C968G:p.T323S,ARL13B:ENST00000681380.1:exon9:c.C1130G:p.T377S,ARL13B:ENST00000681655.1:exon9:c.C968G:p.T323S,ARL13B:ENST00000679872.1:exon10:c.C992G:p.T331S 59.85888671875 4.7431640625 0.791 0.0755
2:200571832:A:G rs17448235 2 200571832 A G SGO2 nonsynonymous SNV SGO2:ENST00000357799.9:exon7:c.A1486G:p.I496V 59.7824668884277 13.4223022460938 0.0 0.248
11:7001486:T:C rs1156526 11 7001486 T C ZNF214 nonsynonymous SNV ZNF214:ENST00000278314.5:exon3:c.A197G:p.Y66C,ZNF214:ENST00000536068.5:exon4:c.A197G:p.Y66C 59.6794562339783 5.92958831787109 0.0 -0.8205
19:42583332:A:C rs1126458 19 42583332 A C CEACAM8 nonsynonymous SNV CEACAM8:ENST00000599005.1:exon2:c.T70G:p.L24V,CEACAM8:ENST00000244336.10:exon5:c.T964G:p.L322V -59.627685546875 5.0283203125 0.0 -0.543
10:92954670:C:G rs11187225 10 92954670 C G EXOC6 nonsynonymous SNV EXOC6:ENST00000443748.6:exon12:c.C1258G:p.L420V,EXOC6:ENST00000260762.10:exon16:c.C1567G:p.L523V,EXOC6:ENST00000371552.8:exon16:c.C1552G:p.L518V,EXOC6:ENST00000671701.1:exon17:c.C1552G:p.L518V,EXOC6:ENST00000672817.1:exon17:c.C1552G:p.L518V 59.5614256858844 13.1883392334021 1.0 5.621
7:64979323:C:T rs3807069 7 64979323 C T ZNF117 nonsynonymous SNV ZNF117:ENST00000282869.11:exon4:c.G248A:p.C83Y,ZNF117:ENST00000714026.1:exon4:c.G248A:p.C83Y,ZNF117:ENST00000714027.1:exon5:c.G248A:p.C83Y 59.5021362304688 13.0893859863299 0.154 1.9965
12:11133489:A:C rs2599404 12 11133489 A C TAS2R30 nonsynonymous SNV TAS2R30:ENST00000539585.1:exon1:c.T756G:p.F252L 59.494966506958 7.55948257446289 0.0 -0.4005
8:104093618:C:T rs55788818 8 104093618 C T RIMS2 nonsynonymous SNV RIMS2:ENST00000696802.1:exon19:c.C2992T:p.R998C,RIMS2:ENST00000705946.1:exon19:c.C3355T:p.R1119C,RIMS2:ENST00000705942.1:exon20:c.C3388T:p.R1130C,RIMS2:ENST00000408894.7:exon21:c.C3088T:p.R1030C,RIMS2:ENST00000436393.6:exon21:c.C2869T:p.R957C,RIMS2:ENST00000705945.1:exon21:c.C3583T:p.R1195C,RIMS2:ENST00000705943.1:exon22:c.C3469T:p.R1157C,RIMS2:ENST00000696799.1:exon24:c.C3841T:p.R1281C,RIMS2:ENST00000666250.1:exon25:c.C3796T:p.R1266C -59.4769430160522 -2.26325607299805 0.9995 5.436
17:1733640:A:G rs3809870 17 1733640 A G WDR81 nonsynonymous SNV WDR81:ENST00000446363.5:exon6:c.A520G:p.M174V,WDR81:ENST00000409644.6:exon7:c.A4603G:p.M1535V,WDR81:ENST00000419248.5:exon7:c.A922G:p.M308V,WDR81:ENST00000437219.6:exon7:c.A994G:p.M332V,WDR81:ENST00000309182.9:exon8:c.A1450G:p.M484V 59.3231072425842 13.2065925598145 0.0 0.187
19:54171874:G:A rs77215230 19 54171874 G A TMC4 nonsynonymous SNV TMC4:ENST00000617472.4:exon2:c.C307T:p.H103Y,TMC4:ENST00000619895.5:exon2:c.C289T:p.H97Y 59.3207054138184 1.96240234375 0.4735 -1.7735
16:5044705:A:G rs11642955 16 5044705 A G C16orf89 nonsynonymous SNV C16orf89:ENST00000315997.5:exon8:c.T1087C:p.Y363H,C16orf89:ENST00000474471.7:exon9:c.T1183C:p.Y395H 59.3042850494385 6.99366760253906 0.0075 -0.174
2:241690633:G:A rs7573214 2 241690633 G A ING5 nonsynonymous SNV ING5:ENST00000636051.1:exon2:c.G23A:p.R8Q 59.2794342041016 4.7086181640625 0.0 -1.623
11:72139084:C:T rs61734430 11 72139084 C T FOLR3 nonsynonymous SNV FOLR3:ENST00000611028.3:exon3:c.C292T:p.R98C -59.2518346309662 -0.530899047851562 0.491 0.7525
16:51141747:T:C rs13336129 16 51141747 T C SALL1 nonsynonymous SNV SALL1:ENST00000251020.9:exon2:c.A475G:p.S159G,SALL1:ENST00000570206.2:exon2:c.A184G:p.S62G,SALL1:ENST00000690502.1:exon2:c.A475G:p.S159G,SALL1:ENST00000440970.6:exon3:c.A475G:p.S159G,SALL1:ENST00000685868.1:exon3:c.A475G:p.S159G 59.2362329959869 -8.76474761962891 0.8735 0.371
5:176955994:G:A rs3733876 5 176955994 G A UIMC1 nonsynonymous SNV UIMC1:ENST00000510698.2:exon4:c.C194T:p.P65L,UIMC1:ENST00000377227.8:exon8:c.C1304T:p.P435L,UIMC1:ENST00000506128.5:exon8:c.C806T:p.P269L,UIMC1:ENST00000511320.6:exon8:c.C1304T:p.P435L -59.2058715820312 -0.89453125 1.0 2.023
9:120799578:C:A rs12115750 9 120799578 C A B3GALT9 nonsynonymous SNV B3GALT9:ENST00000437707.2:exon2:c.C635A:p.S212Y,B3GALT9:ENST00000464488.3:exon3:c.C1010A:p.S337Y,B3GALT9:ENST00000689072.1:exon3:c.C1010A:p.S337Y 58.975118637085 10.2779273986816 0.9925 3.0535
8:86214471:A:G rs9656982 8 86214471 A G SLC7A13 nonsynonymous SNV SLC7A13:ENST00000297524.8:exon4:c.T1355C:p.M452T 58.9215698242188 -1.79296875 0.214 1.82
10:89462530:A:C rs3740030 10 89462530 A C SLC16A12 nonsynonymous SNV SLC16A12:ENST00000371790.5:exon3:c.T49G:p.W17G 58.8466691970825 0.22808837890625 0.9845 1.0155
12:48918757:C:T rs78877829 12 48918757 C T CCDC65 nonsynonymous SNV CCDC65:ENST00000266984.9:exon6:c.C880T:p.R294C,CCDC65:ENST00000320516.5:exon6:c.C880T:p.R294C -58.7721471786499 -20.5988273620605 0.9885 2.479
9:108855929:A:G rs17728850 9 108855929 A G ACTL7B startloss ACTL7B:ENST00000374667.5:exon1:c.T2C:p.M1? -58.7701816558836 -12.9232387542725 0.0005 0.756
17:41515472:T:C rs2305556 17 41515472 T C KRT15 nonsynonymous SNV KRT15:ENST00000393974.7:exon5:c.A752G:p.K251R,KRT15:ENST00000254043.8:exon6:c.A1247G:p.K416R,KRT15:ENST00000393976.6:exon8:c.A1247G:p.K416R 58.6971197128296 0.999326705932617 0.006 0.4995
10:94298541:C:T rs3765524 10 94298541 C T PLCE1 nonsynonymous SNV PLCE1:ENST00000371375.2:exon23:c.C4406T:p.T1469I,PLCE1:ENST00000371385.8:exon23:c.C4304T:p.T1435I,PLCE1:ENST00000675218.1:exon23:c.C4406T:p.T1469I,PLCE1:ENST00000688810.1:exon23:c.C4358T:p.T1453I,PLCE1:ENST00000371380.8:exon24:c.C5330T:p.T1777I,PLCE1:ENST00000692396.1:exon24:c.C5282T:p.T1761I 58.5484201908112 12.4436988830566 1.0 3.463
7:130024472:T:C rs1464890 7 130024472 T C ZC3HC1 nonsynonymous SNV ZC3HC1:ENST00000358303.9:exon7:c.A811G:p.T271A,ZC3HC1:ENST00000360708.9:exon7:c.A811G:p.T271A,ZC3HC1:ENST00000714105.1:exon7:c.A811G:p.T271A 58.5416853427905 -8.20798492431823 0.372 0.1185
14:21431472:C:T rs10467770 14 21431472 C T CHD8 nonsynonymous SNV CHD8:ENST00000557364.6:exon2:c.G172A:p.V58M,CHD8:ENST00000646647.2:exon2:c.G172A:p.V58M,CHD8:ENST00000643469.1:exon3:c.G172A:p.V58M 58.4660530090332 19.7341899871826 0.9995 1.024
12:6453657:C:T rs2041387 12 6453657 C T TAPBPL nonsynonymous SNV TAPBPL:ENST00000544021.5:exon2:c.C275T:p.A92V,TAPBPL:ENST00000266556.8:exon3:c.C506T:p.A169V 58.341908454895 3.90274810791016 0.0755 0.4725
5:146515995:G:A rs17104742 5 146515995 G A GPR151 nonsynonymous SNV GPR151:ENST00000311104.3:exon1:c.C119T:p.P40L -58.281156539917 -37.8934001922607 1.0 7.445
1:156381908:G:A rs3748569 1 156381908 G A RHBG nonsynonymous SNV RHBG:ENST00000537040.6:exon6:c.G943A:p.G315R -58.2643709182739 -19.2058563232422 1.0 7.751
6:28301886:A:G rs1997660 6 28301886 A G PGBD1 nonsynonymous SNV PGBD1:ENST00000259883.3:exon7:c.A2032G:p.I678V,PGBD1:ENST00000682144.1:exon7:c.A2032G:p.I678V -58.2446126937866 3.04367065429688 0.086 1.65
19:21109642:C:A rs7248410 19 21109642 C A ZNF714 stopgain ZNF714:ENST00000425625.5:exon5:c.C159A:p.C53X 58.12109375 6.716796875 0.006 -0.859
15:74825571:G:T rs79217743 15 74825571 G T LMAN1L nonsynonymous SNV LMAN1L:ENST00000379709.7:exon13:c.G1511T:p.R504M,LMAN1L:ENST00000309664.10:exon14:c.G1547T:p.R516M -58.1078681945796 -2.0693359375 0.999 2.351
8:123437226:C:T rs3824250 8 123437226 C T NTAQ1 nonsynonymous SNV NTAQ1:ENST00000287387.7:exon5:c.C400T:p.R134C,NTAQ1:ENST00000523356.1:exon5:c.C400T:p.R134C,NTAQ1:ENST00000523984.5:exon5:c.C220T:p.R74C,NTAQ1:ENST00000524254.5:exon5:c.C220T:p.R74C,NTAQ1:ENST00000650311.1:exon5:c.C220T:p.R74C -58.0742340087891 -9.63711166381836 0.9975 3.5035
11:125582418:A:G rs4627097 11 125582418 A G EI24 nonsynonymous SNV EI24:ENST00000527235.6:exon9:c.A746G:p.H249R 57.9679794311523 -0.80078125 0.5 2.9645
1:48242556:G:T rs850763 1 48242556 G T SLC5A9 stopgain SLC5A9:ENST00000438567.7:exon13:c.G1777T:p.E593X,SLC5A9:ENST00000236495.9:exon14:c.G1852T:p.E618X,SLC5A9:ENST00000533824.5:exon14:c.G1840T:p.E614X -57.8560991287231 -5.5634765625 0.0015 0.686
8:72063566:T:G rs7819749 8 72063566 T G TRPA1 nonsynonymous SNV TRPA1:ENST00000262209.5:exon5:c.A558C:p.K186N -57.5344104766846 -0.119567871091931 0.476 0.4365
21:46367087:T:C rs6518289 21 46367087 T C PCNT nonsynonymous SNV PCNT:ENST00000359568.10:exon15:c.T3113C:p.V1038A,PCNT:ENST00000480896.5:exon15:c.T2759C:p.V920A,PCNT:ENST00000695558.1:exon15:c.T3113C:p.V1038A 57.4520025253296 -1.58792114257449 0.001 0.19
16:15882999:A:G rs12598998 16 15882999 A G CEP20 nonsynonymous SNV CEP20:ENST00000573396.5:exon3:c.T248C:p.L83P,CEP20:ENST00000573429.5:exon3:c.T248C:p.L83P -57.2861328125 8.318359375 0.01 -0.095
11:56360930:A:G rs62001032 11 56360930 A G OR8J1 nonsynonymous SNV OR8J1:ENST00000303039.3:exon1:c.A684G:p.I228M,OR8J1:ENST00000533152.3:exon2:c.A684G:p.I228M 57.0583724975586 2.44773101806641 0.0 -3.691
19:22976684:T:C rs289318 19 22976684 T C ZNF728 nonsynonymous SNV ZNF728:ENST00000594710.2:exon4:c.A653G:p.Y218C 56.9591598510742 24.947021484375 0.0 0.124
7:151003203:G:A rs79467411 7 151003203 G A NOS3 nonsynonymous SNV NOS3:ENST00000484524.5:exon14:c.G1805A:p.C602Y 56.9252734184247 9.87446403503418 0.0 -0.9915
19:56577682:C:T rs4801177 19 56577682 C T ZNF470 nonsynonymous SNV ZNF470:ENST00000391709.4:exon4:c.C1253T:p.T418I,ZNF470:ENST00000330619.13:exon6:c.C1253T:p.T418I 56.881603717804 15.2714614868182 0.005 0.049
16:57915320:G:T rs10459809 16 57915320 G T CNGB1 nonsynonymous SNV CNGB1:ENST00000251102.13:exon23:c.C2233A:p.L745I,CNGB1:ENST00000564448.5:exon23:c.C2215A:p.L739I 56.8339576721191 11.40576171875 1.0 4.5665
12:10997641:T:C rs7135018 12 10997641 T C TAS2R20 nonsynonymous SNV TAS2R20:ENST00000538986.2:exon1:c.A235G:p.K79E 56.7294006347656 -26.5776596069336 0.0 -1.863
11:95923947:T:G rs3824874 11 95923947 T G MTMR2 nonsynonymous SNV MTMR2:ENST00000346299.10:exon1:c.A8C:p.K3T,MTMR2:ENST00000675022.1:exon1:c.A8C:p.K3T -56.4147510528564 -35.6163940429688 1.0 1.859
2:201380700:A:T rs34594680 2 201380700 A T TRAK2 nonsynonymous SNV TRAK2:ENST00000332624.8:exon16:c.T2588A:p.I863N 56.2558498382568 -2.0168571472168 0.0005 -0.1075
16:70660097:C:A rs4985556 16 70660097 C A IL34 stopgain IL34:ENST00000288098.7:exon6:c.C639A:p.Y213X,IL34:ENST00000566361.1:exon6:c.C564A:p.Y188X,IL34:ENST00000429149.6:exon7:c.C639A:p.Y213X -56.1920652389526 -1.02583694458008 0.0 -0.016
1:226164797:T:G rs2306120 1 226164797 T G ACBD3 nonsynonymous SNV ACBD3:ENST00000366812.6:exon3:c.A561C:p.E187D 56.00657081604 16.439453125 0.9505 3.6845
10:122850511:G:A rs1891110 10 122850511 G A FAM24B nonsynonymous SNV FAM24B:ENST00000368896.1:exon3:c.C5T:p.P2L,FAM24B:ENST00000368898.8:exon3:c.C5T:p.P2L 55.8352155685425 15.6811370849609 0.0005 -0.305
19:6496425:C:T rs8107114 19 6496425 C T TUBB4A nonsynonymous SNV TUBB4A:ENST00000596926.5:exon4:c.G316A:p.D106N 55.7705311775226 37.2713050842322 0.0 -0.869
22:46263081:T:C rs112735000 22 46263081 T C PKDREJ nonsynonymous SNV PKDREJ:ENST00000253255.7:exon1:c.A242G:p.H81R 55.7464599609375 17.1274719238281 0.0 -0.586
11:5885061:T:C rs11823842 11 5885061 T C OR52E4 nonsynonymous SNV OR52E4:ENST00000641726.1:exon2:c.T769C:p.F257L 55.6158056259155 9.69200897216797 0.0 -0.186
6:73492801:A:G rs693434 6 73492801 A G EEF1A1 nonsynonymous SNV EEF1A1:ENST00000676547.1:exon7:c.T1033C:p.S345P 55.5269718170148 6.59429931640261 0.0 -0.6885
18:31157444:G:A rs35338395 18 31157444 G A DSC1 nonsynonymous SNV DSC1:ENST00000257197.7:exon3:c.C278T:p.S93F,DSC1:ENST00000257198.6:exon3:c.C278T:p.S93F 55.285572052002 11.4580078125 1.0 1.1795
20:45877334:T:C rs2903808 20 45877334 T C ZSWIM3 nonsynonymous SNV ZSWIM3:ENST00000255152.3:exon2:c.T776C:p.V259A 55.2823946475983 4.11513519287109 0.002 0.238
3:165075970:C:A rs9290264 3 165075970 C A SI nonsynonymous SNV SI:ENST00000264382.8:exon2:c.G43T:p.V15F 55.232738494873 -4.90362548828307 0.9155 1.5375
14:24291558:G:A rs10134537 14 24291558 G A DHRS1 nonsynonymous SNV DHRS1:ENST00000288111.12:exon7:c.C722T:p.T241I,DHRS1:ENST00000396813.5:exon7:c.C722T:p.T241I -55.2129564285278 -18.304126739502 1.0 3.954
5:13931231:C:T rs1530496 5 13931231 C T DNAH5 nonsynonymous SNV DNAH5:ENST00000265104.5:exon2:c.G71A:p.G24E,DNAH5:ENST00000681290.1:exon2:c.G26A:p.G9E 55.2039928436279 10.9054565429688 1.0 6.379
15:82345216:A:C rs4076899 15 82345216 A C GOLGA6L10 nonsynonymous SNV GOLGA6L10:ENST00000610657.2:exon6:c.T644G:p.L215R,GOLGA6L10:ENST00000621197.4:exon6:c.T644G:p.L215R 55.1106128692618 9.4496383666974 0.0 -0.0635
4:40808730:A:G rs2261167 4 40808730 A G NSUN7 nonsynonymous SNV NSUN7:ENST00000381782.7:exon12:c.A1948G:p.K650E 54.8906364440918 -0.359046936033337 0.9985 3.7995
19:34482182:G:A rs150721734 19 34482182 G A WTIP nonsynonymous SNV WTIP:ENST00000590071.7:exon1:c.G208A:p.E70K -54.787816286087 -12.2699546813965 0.0 0.1225
2:182838608:G:A rs288326 2 182838608 G A FRZB nonsynonymous SNV FRZB:ENST00000295113.5:exon4:c.C598T:p.R200W -54.7322928905487 -23.6123008728027 1.0 1.821
11:55913673:G:C rs62639688 11 55913673 G C OR5W2 nonsynonymous SNV OR5W2:ENST00000344514.1:exon1:c.C910G:p.L304V 54.7106485366821 5.61392402648744 0.0 -2.362
6:116629571:G:A rs6927567 6 116629571 G A RSPH4A nonsynonymous SNV RSPH4A:ENST00000368580.4:exon3:c.G926A:p.R309H,RSPH4A:ENST00000229554.10:exon4:c.G1667A:p.R556H -54.5721883773804 -3.53355407714844 1.0 3.2945
19:49908960:C:G rs1062798 19 49908960 C G NUP62 nonsynonymous SNV NUP62:ENST00000422090.2:exon2:c.G848C:p.S283T,NUP62:ENST00000596217.1:exon2:c.G848C:p.S283T,NUP62:ENST00000700473.1:exon2:c.G848C:p.S283T,NUP62:ENST00000700474.1:exon2:c.G848C:p.S283T,NUP62:ENST00000352066.8:exon3:c.G848C:p.S283T,NUP62:ENST00000597029.6:exon3:c.G848C:p.S283T,NUP62:ENST00000599560.6:exon3:c.G848C:p.S283T,NUP62:ENST00000599788.2:exon3:c.G848C:p.S283T,NUP62:ENST00000600935.2:exon3:c.G848C:p.S283T,NUP62:ENST00000700475.1:exon3:c.G848C:p.S283T,NUP62:ENST00000700477.1:exon3:c.G848C:p.S283T,NUP62:ENST00000700478.1:exon3:c.G848C:p.S283T,NUP62:ENST00000596437.6:exon4:c.G848C:p.S283T,NUP62:ENST00000600583.6:exon4:c.G848C:p.S283T,NUP62:ENST00000700476.1:exon4:c.G848C:p.S283T,NUP62:ENST00000598301.2:exon5:c.G848C:p.S283T 54.390205383301 1.15108108520508 0.0795 0.342
11:55913654:A:T rs34573569 11 55913654 A T OR5W2 nonsynonymous SNV OR5W2:ENST00000344514.1:exon1:c.T929A:p.F310Y 54.3310785293579 13.2383308410645 0.0 -1.1775
11:123907029:T:C rs10790610 11 123907029 T C OR8D4 nonsynonymous SNV OR8D4:ENST00000321355.3:exon1:c.T598C:p.F200L,OR8D4:ENST00000641687.1:exon2:c.T598C:p.F200L 54.252984046936 8.34245681762695 0.0365 1.216
19:57326650:C:G rs6510057 19 57326650 C G ZNF543 nonsynonymous SNV ZNF543:ENST00000321545.5:exon3:c.C163G:p.P55A 54.2292785644513 2.0830078125 0.0015 0.2935
9:42186961:C:T rs11261835 9 42186961 C T SPATA31A6 nonsynonymous SNV SPATA31A6:ENST00000332857.7:exon4:c.C1259T:p.P420L -54.1950149536131 -68.0320739746094 0.9995 1.1685
3:108971374:G:A rs2593943 3 108971374 G A MORC1 nonsynonymous SNV MORC1:ENST00000483760.1:exon24:c.C2443T:p.H815Y,MORC1:ENST00000232603.10:exon25:c.C2506T:p.H836Y 54.184326171875 13.48779296875 0.762 0.688
9:133259834:C:T rs549446 9 133259834 C T ABO nonsynonymous SNV ABO:ENST00000538324.2:exon4:c.G188A:p.R63H,ABO:ENST00000611156.4:exon4:c.G188A:p.R63H 54.0732421875 3.1650390625 0.0 -1.427
15:64816305:A:T rs17802279 15 64816305 A T PIF1 nonsynonymous SNV PIF1:ENST00000268043.8:exon13:c.T1919A:p.I640N,PIF1:ENST00000559239.2:exon13:c.T1919A:p.I640N 54.0477342605591 1.67644882202148 0.924 0.9615
2:85390790:G:T rs17850709 2 85390790 G T ELMOD3 nonsynonymous SNV ELMOD3:ENST00000393852.8:exon13:c.G974T:p.R325L,ELMOD3:ENST00000409890.6:exon13:c.G974T:p.R325L,ELMOD3:ENST00000409013.8:exon14:c.G974T:p.R325L,ELMOD3:ENST00000409344.7:exon15:c.G974T:p.R325L -53.9737796783447 -18.5585041046147 0.67 0.9375
14:77378778:A:G rs2193595 14 77378778 A G SAMD15 nonsynonymous SNV SAMD15:ENST00000216471.5:exon1:c.A1360G:p.K454E 53.9381999969482 14.2833557128924 0.0005 0.0935
15:40016658:G:T rs35602605 15 40016658 G T EIF2AK4 nonsynonymous SNV EIF2AK4:ENST00000263791.10:exon28:c.G3916T:p.G1306C -53.8147850036621 -12.032901763916 1.0 7.8535
4:39448609:C:A rs4975017 4 39448609 C A KLB nonsynonymous SNV KLB:ENST00000257408.5:exon5:c.C3058A:p.Q1020K 53.6591606140137 14.55078125 0.913 1.0955
20:39038539:C:T rs3752302 20 39038539 C T DHX35 nonsynonymous SNV DHX35:ENST00000373323.8:exon21:c.C2015T:p.P672L,DHX35:ENST00000373325.6:exon21:c.C2036T:p.P679L,DHX35:ENST00000252011.8:exon22:c.C2108T:p.P703L -53.6416397094727 3.02538299560547 1.0 0.6505
2:151370056:A:G rs1046668 2 151370056 A G TNFAIP6 nonsynonymous SNV TNFAIP6:ENST00000243347.5:exon4:c.A431G:p.Q144R 53.5795078277606 14.3006286621094 0.9905 0.8795
14:103940906:A:C rs35337422 14 103940906 A C RD3L nonsynonymous SNV RD3L:ENST00000557640.2:exon3:c.T497G:p.I166R -53.5356373786926 -46.4510135650635 1.0 6.9515
7:122013344:G:A rs1147504 7 122013344 G A PTPRZ1 nonsynonymous SNV PTPRZ1:ENST00000393386.7:exon12:c.G4298A:p.G1433D,PTPRZ1:ENST00000651320.1:exon12:c.G4298A:p.G1433D,PTPRZ1:ENST00000651863.1:exon12:c.G4298A:p.G1433D,PTPRZ1:ENST00000652298.1:exon12:c.G4298A:p.G1433D,PTPRZ1:ENST00000650681.1:exon13:c.G3530A:p.G1177D,PTPRZ1:ENST00000651842.1:exon13:c.G2960A:p.G987D 53.4138660430908 -0.26885986328125 0.994 0.7945
16:81177891:C:A rs9935113 16 81177891 C A PKD1L2 nonsynonymous SNV PKD1L2:ENST00000531391.5:exon3:c.G298T:p.G100C -53.2414722442618 -16.8799285888672 1.0 3.0365
3:44907182:G:C rs1395388 3 44907182 G C TGM4 nonsynonymous SNV TGM4:ENST00000296125.9:exon10:c.G1309C:p.E437Q,TGM4:ENST00000705784.1:exon11:c.G1444C:p.E482Q -53.2217617034912 -16.0591163635254 0.006 0.366
1:46055887:A:T rs785467 1 46055887 A T P3R3URF-PIK3R3;PIK3R3 nonsynonymous SNV PIK3R3:ENST00000262741.10:exon7:c.T849A:p.N283K,P3R3URF-PIK3R3:ENST00000540385.2:exon7:c.T987A:p.N329K,PIK3R3:ENST00000372006.5:exon8:c.T849A:p.N283K,PIK3R3:ENST00000420542.5:exon8:c.T849A:p.N283K 53.1998915672302 -1.58444213867188 1.0 2.307
6:89787870:A:C rs4707569 6 89787870 A C MDN1 nonsynonymous SNV MDN1:ENST00000369393.8:exon8:c.T1318G:p.F440V -53.1734008789062 -6.3017578125 1.0 2.6635
11:77102915:C:T rs2233546 11 77102915 C T OMP nonsynonymous SNV OMP:ENST00000529803.1:exon1:c.C76T:p.R26W -53.1266140937805 -34.6597061157227 1.0 2.972
7:25142293:T:C rs2285738 7 25142293 T C SPMIP4 nonsynonymous SNV SPMIP4:ENST00000283905.8:exon9:c.A899G:p.H300R,SPMIP4:ENST00000409280.5:exon9:c.A899G:p.H300R -53.1020584106445 9.88682556152526 1.0 2.7105
9:122476974:T:C rs1962091 9 122476974 T C OR1J1 nonsynonymous SNV OR1J1:ENST00000259357.3:exon1:c.A953G:p.N318S 53.0032320022583 12.0104904174805 0.0 -1.0665
19:20948765:A:G rs56321708 19 20948765 A G ZNF85 nonsynonymous SNV ZNF85:ENST00000345030.6:exon3:c.A152G:p.Q51R,ZNF85:ENST00000328178.13:exon4:c.A251G:p.Q84R -52.9927368164062 4.36676025390625 0.0235 0.4775
19:46040308:C:T rs17271272 19 46040308 C T IGFL4 nonsynonymous SNV IGFL4:ENST00000377697.2:exon3:c.G179A:p.R60Q 52.9762916564941 1.60637664794922 0.0 -1.082
2:232970265:A:G rs4973588 2 232970265 A G NGEF nonsynonymous SNV NGEF:ENST00000264051.8:exon3:c.T332C:p.M111T -52.9729003906232 -6.455078125 0.0 -2.0615
20:63861569:T:A rs2281534 20 63861569 T A ABHD16B nonsynonymous SNV ABHD16B:ENST00000369916.5:exon1:c.T29A:p.L10Q -52.8550639152527 -27.6867141723633 0.8425 1.3265
1:180178877:G:C rs17855475 1 180178877 G C QSOX1 nonsynonymous SNV QSOX1:ENST00000367600.5:exon5:c.G599C:p.G200A,QSOX1:ENST00000367602.8:exon5:c.G599C:p.G200A -52.8443555831909 -7.06875610351562 0.7365 3.5885
17:28534859:C:T rs61749867 17 28534859 C T FOXN1 nonsynonymous SNV FOXN1:ENST00000226247.2:exon7:c.C1288T:p.P430S,FOXN1:ENST00000577936.2:exon8:c.C1288T:p.P430S,FOXN1:ENST00000579795.6:exon8:c.C1288T:p.P430S -52.5836524963379 -4.51529121398926 0.0785 2.0105
8:108165310:T:C rs677288 8 108165310 T C EIF3E nonsynonymous SNV EIF3E:ENST00000678042.1:exon14:c.A1499G:p.Y500C 52.5126953125 12.18212890625 0.0 -0.4125
1:203217822:C:CAGACCATGGCCCCGCCCAGTCCCT rs3831317 1 203217822 C CAGACCATGGCCCCGCCCAGTCCCT CHIT1 stopgain CHIT1:ENST00000255427.7:exon9:c.1016delinsAGGGACTGGGCGGGGCCATGGTCTG:p.W339_N447del,CHIT1:ENST00000367229.6:exon10:c.1073delinsAGGGACTGGGCGGGGCCATGGTCTG:p.W358_N466del -52.5031309127808 -101.651271820068 1.0 6.8155
1:40240054:A:T rs10889205 1 40240054 A T RLF nonsynonymous SNV RLF:ENST00000372771.5:exon8:c.A5352T:p.E1784D 52.3469877243042 3.99286270141602 0.496 -0.0894999999999999
4:86764643:T:G rs10033029 4 86764643 T G PTPN13 nonsynonymous SNV PTPN13:ENST00000316707.10:exon22:c.T3495G:p.F1165L,PTPN13:ENST00000427191.6:exon24:c.T4011G:p.F1337L,PTPN13:ENST00000511467.1:exon24:c.T4068G:p.F1356L,PTPN13:ENST00000411767.7:exon25:c.T4068G:p.F1356L,PTPN13:ENST00000436978.5:exon25:c.T4068G:p.F1356L 52.2267580032349 12.7531127929688 0.985 1.3655
7:101196120:G:A rs3735338 7 101196120 G A MOGAT3 nonsynonymous SNV MOGAT3:ENST00000440203.6:exon6:c.C938T:p.P313L 52.0272216796875 3.83718109130859 0.0 0.2725
19:55191542:C:A rs2288523 19 55191542 C A PTPRH nonsynonymous SNV PTPRH:ENST00000263434.5:exon10:c.G1809T:p.K603N,PTPRH:ENST00000376350.8:exon12:c.G2343T:p.K781N 52.002311706543 29.8115234375 0.0 -0.4325
7:82824392:A:C rs2522833 7 82824392 A C PCLO nonsynonymous SNV PCLO:ENST00000618073.1:exon9:c.T703G:p.S235A,PCLO:ENST00000333891.14:exon19:c.T14440G:p.S4814A,PCLO:ENST00000423517.6:exon19:c.T14440G:p.S4814A -51.9531731605539 2.15203857422057 0.53 1.742
7:23754410:G:A rs4722266 7 23754410 G A STK31 nonsynonymous SNV STK31:ENST00000528479.6:exon7:c.G1061A:p.G354E,STK31:ENST00000354639.7:exon10:c.G1160A:p.G387E,STK31:ENST00000355870.8:exon10:c.G1229A:p.G410E,STK31:ENST00000433467.6:exon10:c.G1229A:p.G410E -51.8713836669922 2.33203125 0.612 1.2745
10:98459617:T:A rs10883100 10 98459617 T A HPSE2 nonsynonymous SNV HPSE2:ENST00000404542.5:exon9:c.A1127T:p.Y376F,HPSE2:ENST00000628193.2:exon10:c.A1400T:p.Y467F,HPSE2:ENST00000370549.5:exon11:c.A1562T:p.Y521F,HPSE2:ENST00000370552.8:exon12:c.A1736T:p.Y579F -51.8340969085693 -4.89707183837709 1.0 8.1675
10:11755501:G:A rs35986488 10 11755501 G A ECHDC3 nonsynonymous SNV ECHDC3:ENST00000379215.9:exon4:c.G484A:p.D162N -51.8133597373962 -10.753776550293 1.0 9.3955
14:21000992:T:C rs2234636 14 21000992 T C SLC39A2 nonsynonymous SNV SLC39A2:ENST00000298681.5:exon4:c.T343C:p.F115L 51.7209501266479 12.6023864746094 0.0025 0.281
19:4510548:C:T rs7251858 19 4510548 C T PLIN4 nonsynonymous SNV PLIN4:ENST00000301286.5:exon5:c.G3412A:p.A1138T,PLIN4:ENST00000633942.1:exon5:c.G3415A:p.A1139T 51.6888399124146 1.09586334228334 0.0015 -0.298
2:237339091:C:G rs36104025 2 237339091 C G COL6A3 nonsynonymous SNV COL6A3:ENST00000472056.5:exon36:c.G6670C:p.D2224H,COL6A3:ENST00000353578.9:exon38:c.G7873C:p.D2625H,COL6A3:ENST00000295550.9:exon39:c.G8491C:p.D2831H 51.6263656616211 0.419677734376819 0.997 2.8265
6:73424420:C:T rs7754197 6 73424420 C T CGAS nonsynonymous SNV CGAS:ENST00000680833.1:exon6:c.G1343A:p.R448H 51.494140625 6.8203125 0.0145 -0.343
10:122083008:G:A rs11200385 10 122083008 G A TACC2 nonsynonymous SNV TACC2:ENST00000334433.7:exon3:c.G508A:p.V170I,TACC2:ENST00000453444.6:exon3:c.G508A:p.V170I,TACC2:ENST00000369005.6:exon4:c.G508A:p.V170I,TACC2:ENST00000515273.5:exon4:c.G508A:p.V170I,TACC2:ENST00000515603.5:exon4:c.G508A:p.V170I 51.4587554931641 0.1728515625 0.0 -0.388
5:136192217:A:G rs2287963 5 136192217 A G SMIM32 nonsynonymous SNV SMIM32:ENST00000607574.2:exon1:c.T308C:p.V103A -51.4365622997286 -2.64872741699219 1.0 3.814
6:54354528:G:A rs3195579 6 54354528 G A TINAG nonsynonymous SNV TINAG:ENST00000259782.9:exon9:c.G1142A:p.R381H -51.3424453735352 1.8017578125 0.637 1.2695
16:28502082:A:G rs181206 16 28502082 A G IL27 nonsynonymous SNV IL27:ENST00000356897.1:exon4:c.T356C:p.L119P -51.2698678970328 -4.24853515625364 0.0285 1.0935
17:76479893:C:A rs3809694 17 76479893 C A RHBDF2 nonsynonymous SNV RHBDF2:ENST00000313080.8:exon4:c.G199T:p.A67S 51.2685461044312 -4.69644546508789 0.0 -0.2685
6:46168147:C:G rs34109856 6 46168147 C G ENPP5 nonsynonymous SNV ENPP5:ENST00000230565.3:exon2:c.G116C:p.R39P,ENPP5:ENST00000371383.7:exon3:c.G116C:p.R39P -51.2251307964325 -49.3632526397705 1.0 4.761
17:69294699:T:C rs17686569 17 69294699 T C ABCA5 nonsynonymous SNV ABCA5:ENST00000588877.5:exon10:c.A1451G:p.Q484R,ABCA5:ENST00000392676.8:exon11:c.A1451G:p.Q484R 51.1733551025391 2.35888671875 1.0 4.287
11:17645892:G:C rs11024357 11 17645892 G C OTOG nonsynonymous SNV OTOG:ENST00000399391.7:exon55:c.G8726C:p.W2909S,OTOG:ENST00000399397.6:exon56:c.G8690C:p.W2897S -51.0700640678406 -25.4795608520512 1.0 9.163
10:97744873:G:T rs10882993 10 97744873 G T ZFYVE27 nonsynonymous SNV ZFYVE27:ENST00000370610.7:exon2:c.G119T:p.G40V,ZFYVE27:ENST00000337540.11:exon3:c.G317T:p.G106V,ZFYVE27:ENST00000359980.5:exon4:c.G413T:p.G138V,ZFYVE27:ENST00000393677.8:exon4:c.G413T:p.G138V,ZFYVE27:ENST00000423811.3:exon4:c.G413T:p.G138V,ZFYVE27:ENST00000684270.1:exon4:c.G413T:p.G138V 50.9021139144897 15.2882995605487 0.934 1.001
16:90074947:A:C rs12925933 16 90074947 A C PRDM7 nonsynonymous SNV PRDM7:ENST00000449207.8:exon4:c.T270G:p.D90E 50.8230781555176 -2.11063003539675 0.999 1.452
16:3204470:T:C rs1834026 16 3204470 T C OR1F1 nonsynonymous SNV OR1F1:ENST00000304646.3:exon4:c.T224C:p.F75S 50.8213520050049 16.4324874877948 0.001 -0.7045
11:25077392:G:C rs7930185 11 25077392 G C LUZP2 nonsynonymous SNV LUZP2:ENST00000620308.1:exon10:c.G664C:p.E222Q,LUZP2:ENST00000336930.11:exon11:c.G922C:p.E308Q,LUZP2:ENST00000533227.5:exon11:c.G664C:p.E222Q -50.76171875 -6.087890625 0.0 0.4775
16:69954569:C:T rs75776403 16 69954569 C T CLEC18A nonsynonymous SNV CLEC18A:ENST00000288040.11:exon3:c.C452T:p.T151M,CLEC18A:ENST00000449317.6:exon3:c.C452T:p.T151M,CLEC18A:ENST00000393701.6:exon4:c.C452T:p.T151M,CLEC18A:ENST00000568461.5:exon4:c.C452T:p.T151M,CLEC18A:ENST00000615430.4:exon4:c.C452T:p.T151M -50.7448101043701 3.15625 0.9365 1.6625
19:2877367:C:T rs10421121 19 2877367 C T ZNF556 nonsynonymous SNV ZNF556:ENST00000307635.3:exon4:c.C409T:p.R137C,ZNF556:ENST00000586426.5:exon4:c.C406T:p.R136C -50.6251611709595 -4.02685546874818 0.0 -1.2625
7:22492717:T:C rs149580813 7 22492717 T C STEAP1B nonsynonymous SNV STEAP1B:ENST00000404369.8:exon4:c.A610G:p.K204E,STEAP1B:ENST00000406890.6:exon4:c.A553G:p.K185E,STEAP1B:ENST00000678116.1:exon4:c.A610G:p.K204E 50.5950155258179 11.1325454711914 0.3115 0.824
6:135202648:G:A rs41294868 6 135202648 G A MYB nonsynonymous SNV MYB:ENST00000616088.4:exon14:c.G1933A:p.V645M 50.5880470275879 15.4919738769531 0.007 -0.997
9:35563364:G:A rs75679360 9 35563364 G A CIMIP2B nonsynonymous SNV CIMIP2B:ENST00000399742.7:exon2:c.C88T:p.R30W,CIMIP2B:ENST00000447837.1:exon2:c.C88T:p.R30W -50.4730763435364 -62.9701271057129 0.999 1.157
19:8917697:G:A rs56396897 19 8917697 G A MUC16 nonsynonymous SNV MUC16:ENST00000397910.8:exon11:c.C36419T:p.T12140M,MUC16:ENST00000710610.1:exon13:c.C27245T:p.T9082M,MUC16:ENST00000710609.1:exon14:c.C36539T:p.T12180M,MUC16:ENST00000711672.1:exon15:c.C36605T:p.T12202M 50.4637813568115 -2.13392639160156 0.995 3.641
5:141392860:T:G rs726684 5 141392860 T G PCDHGA8 nonsynonymous SNV PCDHGA8:ENST00000398604.3:exon1:c.T47G:p.L16R,PCDHGA8:ENST00000610569.1:exon1:c.T47G:p.L16R -50.3047232627869 -21.87375831604 0.8585 2.1425
5:748479:T:C rs3817064 5 748479 T C ZDHHC11B nonsynonymous SNV ZDHHC11B:ENST00000508859.8:exon8:c.A709G:p.R237G 50.2936944961548 11.9997253417973 0.0005 0.078
2:45413195:T:C rs3755072 2 45413195 T C SRBD1 nonsynonymous SNV SRBD1:ENST00000263736.5:exon19:c.A2432G:p.K811R 50.2915134429932 13.16845703125 1.0 6.7605
11:49059013:A:C rs7932738 11 49059013 A C TRIM64C nonsynonymous SNV TRIM64C:ENST00000617704.1:exon1:c.T100G:p.F34V 50.2350730895996 -6.92906188965026 1.0 3.7165
16:72957816:A:G rs4788682 16 72957816 A G ZFHX3 nonsynonymous SNV ZFHX3:ENST00000268489.10:exon2:c.T2330C:p.V777A,ZFHX3:ENST00000641206.2:exon10:c.T2330C:p.V777A 50.2236835956573 8.83607292175293 1.0 4.459
18:23373756:G:A rs8099409 18 23373756 G A TMEM241 nonsynonymous SNV TMEM241:ENST00000383233.8:exon7:c.C391T:p.L131F 50.1736907958984 10.994140625 1.0 1.4845
8:55796142:T:C rs10100659 8 55796142 T C TGS1 nonsynonymous SNV TGS1:ENST00000260129.6:exon7:c.T1532C:p.I511T 50.029296875 3.46380615234375 0.999 1.4465
10:89709168:C:G rs1129777 10 89709168 C G KIF20B nonsynonymous SNV KIF20B:ENST00000260753.8:exon3:c.C149G:p.A50G,KIF20B:ENST00000371728.8:exon3:c.C149G:p.A50G 50.0257453918475 13.8850173950195 0.9855 2.7015
19:3595008:A:G rs34486470 19 3595008 A G TBXA2R nonsynonymous SNV TBXA2R:ENST00000411851.3:exon4:c.T1052C:p.L351P 50.0229606628436 2.79907608032227 0.0095 0.328
13:113255025:A:G rs2302757 13 113255025 A G CUL4A nonsynonymous SNV CUL4A:ENST00000326335.8:exon18:c.A1655G:p.K552R,CUL4A:ENST00000375440.9:exon18:c.A1931G:p.K644R,CUL4A:ENST00000375441.7:exon18:c.A1631G:p.K544R,CUL4A:ENST00000451881.5:exon18:c.A1631G:p.K544R,CUL4A:ENST00000617546.4:exon18:c.A1631G:p.K544R 49.9736428260803 13.3692893981934 0.999 2.699
17:81996668:T:A rs8074498 17 81996668 T A ASPSCR1 nonsynonymous SNV ASPSCR1:ENST00000580534.5:exon6:c.T524A:p.L175Q,ASPSCR1:ENST00000306729.11:exon7:c.T755A:p.L252Q,ASPSCR1:ENST00000306739.9:exon7:c.T755A:p.L252Q -49.9572591781616 -21.9926452636719 1.0 2.5025
17:69112221:C:G rs9282553 17 69112221 C G ABCA6 nonsynonymous SNV ABCA6:ENST00000284425.7:exon16:c.G2094C:p.M698I 49.8978385925275 4.9775390625 0.033 1.228
2:26581379:T:C rs935172 2 26581379 T C CIB4 nonsynonymous SNV CIB4:ENST00000288861.5:exon7:c.A542G:p.H181R -49.8702774047852 -0.45849609375 1.0 2.965
15:99001200:G:A rs2593051 15 99001200 G A PGPEP1L nonsynonymous SNV PGPEP1L:ENST00000378919.6:exon2:c.C8T:p.P3L 49.83984375 7.265625 0.0095 0.171
11:111924361:C:G rs7124407 11 111924361 C G C11orf52 nonsynonymous SNV C11orf52:ENST00000278601.6:exon2:c.C68G:p.T23R 49.662109375 11.7587890625 0.274 -0.2615
21:41480570:C:T rs12329760 21 41480570 C T TMPRSS2 nonsynonymous SNV TMPRSS2:ENST00000678743.1:exon4:c.G154A:p.V52M,TMPRSS2:ENST00000679016.1:exon4:c.G271A:p.V91M,TMPRSS2:ENST00000424093.6:exon5:c.G358A:p.V120M,TMPRSS2:ENST00000332149.10:exon6:c.G478A:p.V160M,TMPRSS2:ENST00000398585.7:exon6:c.G589A:p.V197M,TMPRSS2:ENST00000458356.6:exon6:c.G478A:p.V160M,TMPRSS2:ENST00000676973.1:exon6:c.G478A:p.V160M,TMPRSS2:ENST00000678171.1:exon6:c.G478A:p.V160M,TMPRSS2:ENST00000678348.1:exon6:c.G478A:p.V160M,TMPRSS2:ENST00000679054.1:exon6:c.G478A:p.V160M,TMPRSS2:ENST00000679263.1:exon6:c.G637A:p.V213M,TMPRSS2:ENST00000454499.6:exon7:c.G478A:p.V160M 49.6176748275757 -1.95929908752441 1.0 1.4285
16:70514394:G:A rs3931036 16 70514394 G A COG4 nonsynonymous SNV COG4:ENST00000323786.10:exon4:c.C485T:p.T162I,COG4:ENST00000393612.8:exon4:c.C485T:p.T162I,COG4:ENST00000564653.6:exon4:c.C473T:p.T158I,COG4:ENST00000674443.1:exon4:c.C473T:p.T158I 49.5268549919128 8.4234619140625 1.0 6.4325
16:23478390:C:G rs1135045 16 23478390 C G GGA2 nonsynonymous SNV GGA2:ENST00000309859.8:exon13:c.G1270C:p.A424P -49.5237226486206 4.65402221679869 0.8675 -0.0175
15:41511556:G:A rs55739813 15 41511556 G A LTK nonsynonymous SNV LTK:ENST00000263800.11:exon6:c.C680T:p.P227L,LTK:ENST00000355166.9:exon6:c.C680T:p.P227L,LTK:ENST00000453182.2:exon6:c.C680T:p.P227L -49.5041394233704 -13.9416828155518 1.0 6.856
1:16587089:A:C rs629538 1 16587089 A C NBPF1 nonsynonymous SNV NBPF1:ENST00000430580.6:exon11:c.T739G:p.S247A -49.3706703186035 1.2391357421875 0.0045 0.2505
7:48278111:A:C rs78334925 7 48278111 A C ABCA13 nonsynonymous SNV ABCA13:ENST00000435803.6:exon18:c.A6917C:p.K2306T 49.3387145996094 11.2690734863281 0.9045 1.0285
16:27749719:C:T rs61734902 16 27749719 C T KATNIP nonsynonymous SNV KATNIP:ENST00000261588.10:exon16:c.C2759T:p.P920L -49.2589054107666 -2.89822769165039 0.9985 2.9355
15:99129423:A:T rs3743242 15 99129423 A T SYNM nonsynonymous SNV SYNM:ENST00000336292.11:exon4:c.A1063T:p.R355W,SYNM:ENST00000560674.5:exon4:c.A205T:p.R69W,SYNM:ENST00000594047.2:exon4:c.A1063T:p.R355W -49.2148494720459 -17.5732612609863 0.0105 1.192
1:62178446:A:G rs2481703 1 62178446 A G PATJ nonsynonymous SNV PATJ:ENST00000635137.1:exon17:c.A1754G:p.D585G 49.0591430664026 8.3341064453125 0.512 -0.1995
6:131709826:G:C rs202051647 6 131709826 G C CTAGE9 nonsynonymous SNV CTAGE9:ENST00000314099.10:exon1:c.C1192G:p.L398V 48.9473342895508 10.8970565795898 1.0 1.0065
1:171199445:C:T rs2020862 1 171199445 C T FMO2 nonsynonymous SNV FMO2:ENST00000209929.10:exon5:c.C584T:p.S195L -48.7774004936255 -0.136650085449219 0.5 1.539
11:66561248:T:C rs618838 11 66561248 T C ACTN3 nonsynonymous SNV ACTN3:ENST00000502692.5:exon16:c.T2011C:p.C671R,ACTN3:ENST00000513398.2:exon16:c.T1882C:p.C628R 48.6944065093994 17.4644432067871 0.5125 5.1805
3:14714110:C:G rs6790129 3 14714110 C G C3orf20 nonsynonymous SNV C3orf20:ENST00000253697.8:exon8:c.C1264G:p.L422V,C3orf20:ENST00000412910.1:exon8:c.C898G:p.L300V,C3orf20:ENST00000435614.5:exon8:c.C898G:p.L300V -48.6929950714111 -3.77685546875 0.8675 0.7765
2:24172637:T:C rs889830 2 24172637 T C ENSG00000276087 nonsynonymous SNV ENSG00000276087:ENST00000610442.1:exon7:c.T611C:p.V204A 48.6865234375 12.69580078125 0.0 -1.6275
2:126899285:C:T rs61730220 2 126899285 C T TEX51 stopgain TEX51:ENST00000450035.5:exon2:c.C214T:p.R72X,TEX51:ENST00000568484.6:exon2:c.C214T:p.R72X,TEX51:ENST00000636457.1:exon2:c.C268T:p.R90X,TEX51:ENST00000643416.1:exon2:c.C268T:p.R90X,TEX51:ENST00000706944.1:exon2:c.C214T:p.R72X,TEX51:ENST00000706945.1:exon2:c.C268T:p.R90X -48.668662071228 -15.4008255004883 0.007 0.8795
15:74837752:T:C rs12898397 15 74837752 T C ULK3 nonsynonymous SNV ULK3:ENST00000440863.7:exon14:c.A1334G:p.K445R,ULK3:ENST00000568667.5:exon14:c.A1367G:p.K456R -48.5455820560455 -23.013500213623 1.0 2.9165
12:14503834:G:C rs1600 12 14503834 G C PLBD1 nonsynonymous SNV PLBD1:ENST00000240617.10:exon11:c.C1600G:p.P534A -48.4781789779663 -8.24417114257812 1.0 5.476
22:42516091:C:T rs11553441 22 42516091 C T RRP7A nonsynonymous SNV RRP7A:ENST00000323013.7:exon3:c.G262A:p.V88I -48.4413523674011 -2.01467895507812 0.4945 1.204
17:3623343:C:T rs150857 17 3623343 C T ENSG00000262304;SHPK nonsynonymous SNV SHPK:ENST00000225519.5:exon4:c.G643A:p.E215K,ENSG00000262304:ENST00000572919.1:exon4:c.G643A:p.E215K -48.4368062019348 -13.0350818634033 0.478 1.181
16:25247334:A:G rs61742723 16 25247334 A G ZKSCAN2 nonsynonymous SNV ZKSCAN2:ENST00000328086.12:exon5:c.T862C:p.W288R -48.3436107635498 -16.6316852569598 0.611 0.4555
7:4077033:G:A rs11978101 7 4077033 G A SDK1 nonsynonymous SNV SDK1:ENST00000389531.7:exon21:c.G3046A:p.D1016N,SDK1:ENST00000404826.7:exon21:c.G3046A:p.D1016N -48.3076391220093 -3.96563911437988 0.0405 1.502
10:1019770:C:T rs1044261 10 1019770 C T IDI2 stopgain IDI2:ENST00000277517.2:exon5:c.G431A:p.W144X -48.2744789123535 -13.1100463867188 1.0 5.4035
5:140795037:G:A rs9686540 5 140795037 G A PCDHA2 nonsynonymous SNV PCDHA2:ENST00000378132.2:exon1:c.G73A:p.E25K,PCDHA2:ENST00000520672.2:exon1:c.G73A:p.E25K,PCDHA2:ENST00000526136.2:exon1:c.G73A:p.E25K 48.1940650939941 7.45653915405092 0.141 0.2195
14:76803445:A:C rs2075773 14 76803445 A C ANGEL1 nonsynonymous SNV ANGEL1:ENST00000557179.5:exon2:c.T239G:p.F80C,ANGEL1:ENST00000251089.8:exon7:c.T1544G:p.F515C -48.1884164810176 -76.6166801452637 1.0 5.163
22:29441548:T:C rs3804076 22 29441548 T C RFPL1 nonsynonymous SNV RFPL1:ENST00000354373.2:exon2:c.T380C:p.M127T -48.1728258132935 -44.635082244873 0.9955 2.964
6:27912204:A:G rs61742093 6 27912204 A G OR2B2 nonsynonymous SNV OR2B2:ENST00000303324.4:exon1:c.T116C:p.I39T -48.101478099823 -8.1302909851056 0.4685 4.191
20:32640677:A:G rs6087959 20 32640677 A G ENSG00000285382 nonsynonymous SNV ENSG00000285382:ENST00000642484.1:exon9:c.T541C:p.F181L 48.04345703125 9.043212890625 0.1065 0.246
15:90257217:C:T rs2063743 15 90257217 C T ENSG00000261147;TTLL13 nonsynonymous SNV ENSG00000261147:ENST00000561573.1:exon5:c.C497T:p.T166I,TTLL13:ENST00000438251.3:exon7:c.C785T:p.T262I,TTLL13:ENST00000641754.2:exon7:c.C785T:p.T262I 48.016975402832 -5.29136276245117 1.0 4.151
19:17227073:C:G rs891203 19 17227073 C G OCEL1 nonsynonymous SNV OCEL1:ENST00000597836.5:exon2:c.C158G:p.A53G,OCEL1:ENST00000215061.9:exon3:c.C326G:p.A109G,OCEL1:ENST00000601529.5:exon3:c.C326G:p.A109G -47.9505834579468 1.58463668823242 0.0 -0.598
15:89585735:C:T rs11629584 15 89585735 C T TICRR nonsynonymous SNV TICRR:ENST00000268138.12:exon4:c.C1204T:p.R402W,TICRR:ENST00000560985.5:exon4:c.C1201T:p.R401W 47.8979034423828 7.32958984375 0.9875 2.099
2:17781251:C:T rs300169 2 17781251 C T GEN1 nonsynonymous SNV GEN1:ENST00000317402.11:exon14:c.C2039T:p.T680I,GEN1:ENST00000381254.7:exon14:c.C2039T:p.T680I 47.7870254516602 -11.4757957458496 0.0025 0.0615
2:36598027:T:C rs2287104 2 36598027 T C FEZ2 nonsynonymous SNV FEZ2:ENST00000379245.8:exon1:c.A116G:p.E39G,FEZ2:ENST00000405912.8:exon1:c.A116G:p.E39G 47.740357875824 3.37041091918945 0.5105 0.4285
6:32661987:C:T rs1130398 6 32661987 C T HLA-DQB1 nonsynonymous SNV HLA-DQB1:ENST00000399082.7:exon2:c.G371A:p.S124N,HLA-DQB1:ENST00000374943.8:exon3:c.G641A:p.S214N,HLA-DQB1:ENST00000399079.7:exon3:c.G641A:p.S214N,HLA-DQB1:ENST00000434651.7:exon3:c.G641A:p.S214N,HLA-DQB1:ENST00000399084.5:exon4:c.G641A:p.S214N 47.7219915390015 7.85861968994141 0.0005 0.2785
9:18829954:A:G rs41304755 9 18829954 A G ADAMTSL1 nonsynonymous SNV ADAMTSL1:ENST00000380545.9:exon2:c.A329G:p.D110G,ADAMTSL1:ENST00000380548.9:exon23:c.A4226G:p.D1409G -47.7178163528438 -19.5556030273438 1.0 2.0075
13:95206781:C:A rs2274407 13 95206781 C A ABCC4 nonsynonymous SNV ABCC4:ENST00000536256.3:exon7:c.G687T:p.K229N,ABCC4:ENST00000629385.1:exon8:c.G912T:p.K304N,ABCC4:ENST00000645237.2:exon8:c.G912T:p.K304N,ABCC4:ENST00000646439.1:exon8:c.G912T:p.K304N -47.6045689582825 -2.44579124450865 1.0 4.152
19:43082512:C:G rs3887660 19 43082512 C G PSG2 nonsynonymous SNV PSG2:ENST00000406487.6:exon1:c.G58C:p.V20L -47.5937805175781 7.48791503906068 0.6165 -0.079
4:38878328:G:A rs11096964 4 38878328 G A FAM114A1 nonsynonymous SNV FAM114A1:ENST00000358869.5:exon3:c.G250A:p.G84R 47.5634460449219 -1.27352905273438 0.9895 1.3435
2:169645891:G:A rs17544587 2 169645891 G A CFAP210 nonsynonymous SNV CFAP210:ENST00000447353.6:exon9:c.C1609T:p.P537S 47.52734375 17.3400878906268 0.981 0.908
14:103941451:A:G rs78523783 14 103941451 A G RD3L nonsynonymous SNV RD3L:ENST00000557640.2:exon2:c.T245C:p.L82P -47.4929847717285 -21.6706008911133 1.0 6.08
5:90690065:A:G rs10037067 5 90690065 A G ADGRV1 nonsynonymous SNV ADGRV1:ENST00000405460.9:exon30:c.A6695G:p.Y2232C -47.4910712242126 -30.6206798553467 1.0 1.7875
17:46171833:T:G rs17585974 17 46171833 T G KANSL1 nonsynonymous SNV KANSL1:ENST00000262419.10:exon2:c.A311C:p.K104T,KANSL1:ENST00000432791.7:exon2:c.A311C:p.K104T,KANSL1:ENST00000572904.6:exon2:c.A311C:p.K104T,KANSL1:ENST00000638275.1:exon2:c.A311C:p.K104T,KANSL1:ENST00000574590.6:exon3:c.A311C:p.K104T,KANSL1:ENST00000575318.6:exon3:c.A311C:p.K104T,KANSL1:ENST00000648792.1:exon3:c.A311C:p.K104T -47.4662954807281 -26.7213249206543 1.0 6.661
1:1452384:G:A rs9793256 1 1452384 G A ATAD3C nonsynonymous SNV ATAD3C:ENST00000378785.7:exon3:c.G172A:p.G58R -47.4397373199463 -0.05078125 1.0 8.17
7:75494199:G:T rs6947307 7 75494199 G T SPDYE5 nonsynonymous SNV SPDYE5:ENST00000625065.4:exon2:c.G152T:p.G51V -47.3370399475098 -13.7870483398438 0.991 1.6845
7:140674249:T:C rs1140034 7 140674249 T C ADCK2 nonsynonymous SNV ADCK2:ENST00000072869.9:exon1:c.T919C:p.S307P,ADCK2:ENST00000476491.5:exon1:c.T919C:p.S307P 47.2509160041809 3.61483573913574 0.999 3.7425
19:54817538:G:C rs1142881 19 54817538 G C KIR3DL1 nonsynonymous SNV KIR3DL1:ENST00000326542.11:exon2:c.G39C:p.L13F,KIR3DL1:ENST00000358178.4:exon2:c.G39C:p.L13F,KIR3DL1:ENST00000391728.8:exon2:c.G39C:p.L13F 47.24403476715 2.31600952148438 0.0005 -0.221
19:35345627:G:A rs10406069 19 35345627 G A CD22 nonsynonymous SNV CD22:ENST00000594250.5:exon9:c.G1703A:p.G568D,CD22:ENST00000341773.10:exon10:c.G1703A:p.G568D,CD22:ENST00000419549.6:exon11:c.G1718A:p.G573D,CD22:ENST00000536635.6:exon11:c.G1970A:p.G657D,CD22:ENST00000085219.10:exon12:c.G2234A:p.G745D -47.2189121246338 3.18508911132812 0.0015 -0.168
19:41125512:T:C rs144315434 19 41125512 T C CYP2F1 nonsynonymous SNV CYP2F1:ENST00000331105.7:exon9:c.T1172C:p.L391P -47.1300206184387 -6.90552902221862 0.0015 -1.5555
14:64024977:T:C rs4902264 14 64024977 T C SYNE2 nonsynonymous SNV SYNE2:ENST00000554584.5:exon39:c.T5906C:p.M1969T,SYNE2:ENST00000344113.8:exon40:c.T5906C:p.M1969T,SYNE2:ENST00000358025.7:exon40:c.T5906C:p.M1969T,SYNE2:ENST00000555002.6:exon40:c.T5906C:p.M1969T 47.0971565246582 4.60830688476562 0.0305 0.0535
12:70596274:T:C rs2465811 12 70596274 T C PTPRB nonsynonymous SNV PTPRB:ENST00000261266.9:exon3:c.A379G:p.S127G,PTPRB:ENST00000538708.5:exon3:c.A379G:p.S127G,PTPRB:ENST00000550857.5:exon3:c.A379G:p.S127G,PTPRB:ENST00000334414.11:exon5:c.A1033G:p.S345G,PTPRB:ENST00000550358.5:exon5:c.A1033G:p.S345G,PTPRB:ENST00000551525.5:exon5:c.A1030G:p.S344G 46.9689331054706 -6.0657958984375 1.0 2.296
2:241071669:T:C rs17440466 2 241071669 T C SNED1 nonsynonymous SNV SNED1:ENST00000310397.13:exon25:c.T3683C:p.L1228P,SNED1:ENST00000401884.5:exon25:c.T3683C:p.L1228P,SNED1:ENST00000405547.7:exon25:c.T3683C:p.L1228P -46.8557014465327 -19.0674133300781 0.998 2.317
19:42516859:G:C rs10412463 19 42516859 G C CEACAM1 nonsynonymous SNV CEACAM1:ENST00000599389.1:exon5:c.C965G:p.A322G 46.8381347656268 10.52587890625 0.0 -0.4795
17:28364299:A:G rs9910163 17 28364299 A G SEBOX nonsynonymous SNV SEBOX:ENST00000536498.6:exon3:c.T542C:p.L181S 46.6979141235352 44.1972846984863 0.0 0.212
12:57941843:A:T rs3751325 12 57941843 A T ATP23 nonsynonymous SNV ATP23:ENST00000300145.4:exon1:c.A142T:p.S48C -46.6838722229004 -12.4904441833496 0.214 0.2085
17:37577539:T:C rs12602536 17 37577539 T C SYNRG nonsynonymous SNV SYNRG:ENST00000612223.5:exon7:c.A664G:p.T222A 46.6076374053937 10.677734375 0.9975 0.653
7:30755820:T:G rs4720015 7 30755820 T G INMT nonsynonymous SNV INMT:ENST00000013222.5:exon3:c.T761G:p.F254C,INMT:ENST00000409539.1:exon3:c.T758G:p.F253C -46.5834722518921 -11.629581451416 0.003 0.5635
19:52652786:G:C rs59091620 19 52652786 G C ENSG00000269825 nonsynonymous SNV ENSG00000269825:ENST00000598322.3:exon4:c.C1808G:p.A603G 46.5634613037109 15.5411529540997 0.0 -1.167
6:142370412:A:C rs11155242 6 142370412 A C ADGRG6 nonsynonymous SNV ADGRG6:ENST00000230173.10:exon4:c.A688C:p.K230Q,ADGRG6:ENST00000296932.13:exon4:c.A688C:p.K230Q,ADGRG6:ENST00000367608.6:exon4:c.A688C:p.K230Q,ADGRG6:ENST00000367609.8:exon4:c.A688C:p.K230Q 46.5505437850952 10.9190063476562 0.76 2.3075
14:50921064:C:T rs946616 14 50921064 C T PYGL nonsynonymous SNV PYGL:ENST00000544180.6:exon5:c.G562A:p.V188I,PYGL:ENST00000216392.8:exon6:c.G664A:p.V222I,PYGL:ENST00000532462.5:exon6:c.G664A:p.V222I 46.5342991352081 7.55234527587891 0.999 2.363
1:93154836:G:A rs1060622 1 93154836 G A TMED5 nonsynonymous SNV TMED5:ENST00000370282.8:exon4:c.C524T:p.T175I -46.4654388427734 -4.5292263031024 1.0 7.9625
7:34778501:A:T rs324981 7 34778501 A T NPSR1 nonsynonymous SNV NPSR1:ENST00000359791.5:exon3:c.A320T:p.N107I,NPSR1:ENST00000360581.6:exon3:c.A320T:p.N107I,NPSR1:ENST00000381539.3:exon3:c.A320T:p.N107I,NPSR1:ENST00000381553.7:exon3:c.A320T:p.N107I,NPSR1:ENST00000531252.5:exon3:c.A287T:p.N96I 46.4104604721069 9.666015625 0.794 1.35
17:80289687:T:C rs17853989 17 80289687 T C RNF213 nonsynonymous SNV RNF213:ENST00000319921.4:exon6:c.T962C:p.M321T,RNF213:ENST00000582970.6:exon6:c.T962C:p.M321T,RNF213:ENST00000508628.6:exon7:c.T1109C:p.M370T -46.203369140625 1.5244140625 0.0 -2.564
16:19030273:G:A rs4072393 16 19030273 G A TMC7 nonsynonymous SNV TMC7:ENST00000304381.10:exon6:c.G761A:p.G254E,TMC7:ENST00000421369.3:exon6:c.G431A:p.G144E,TMC7:ENST00000569532.5:exon6:c.G761A:p.G254E -46.1661610603333 -1.9052734375 0.9665 0.7125
8:67509533:G:C rs17853192 8 67509533 G C CPA6 nonsynonymous SNV CPA6:ENST00000297770.10:exon5:c.C518G:p.S173C 46.1533203125 3.03466796875 0.998 4.542
8:73955692:C:G rs72661848 8 73955692 C G ELOC nonsynonymous SNV ELOC:ENST00000685938.1:exon3:c.G166C:p.A56P,ELOC:ENST00000519487.6:exon4:c.G172C:p.A58P 46.1482372283917 9.46158981323242 0.0195 -0.2555
4:155353225:T:C rs1058992 4 155353225 T C MAP9 nonsynonymous SNV MAP9:ENST00000311277.9:exon11:c.A1496G:p.K499R,MAP9:ENST00000515654.5:exon11:c.A1424G:p.K475R,MAP9:ENST00000650955.1:exon11:c.A1496G:p.K499R 46.1435699462891 8.6513671875 0.618 1.031
19:43648948:A:G rs4760 19 43648948 A G PLAUR nonsynonymous SNV PLAUR:ENST00000221264.8:exon6:c.T815C:p.L272P,PLAUR:ENST00000601723.5:exon6:c.T803C:p.L268P,PLAUR:ENST00000340093.8:exon7:c.T950C:p.L317P 46.1434745788574 6.53466796875 0.6495 1.1205
19:57639926:T:A rs4801509 19 57639926 T A ZNF211 nonsynonymous SNV ZNF211:ENST00000541801.5:exon3:c.T232A:p.W78R,ZNF211:ENST00000254182.11:exon4:c.T49A:p.W17R,ZNF211:ENST00000299871.9:exon4:c.T271A:p.W91R 46.1001586914062 -2.358642578125 0.0 -0.8115
16:3289435:G:C rs220379 16 3289435 G C ZNF263 nonsynonymous SNV ZNF263:ENST00000574253.2:exon2:c.G430C:p.A144P,ZNF263:ENST00000572748.2:exon4:c.G674C:p.C225S,ZNF263:ENST00000219069.6:exon6:c.G929C:p.C310S,ZNF263:ENST00000574674.2:exon6:c.G929C:p.C310S,ZNF263:ENST00000575332.2:exon6:c.G929C:p.C310S 46.0947148799896 11.8577518463135 0.0 -0.8195
18:80045949:A:C rs3744873 18 80045949 A C RBFA nonsynonymous SNV RBFA:ENST00000306735.10:exon7:c.A826C:p.K276Q 46.0590362548828 3.75632476806641 0.001 0.544
16:71649815:A:G rs61733127 16 71649815 A G PHLPP2 nonsynonymous SNV PHLPP2:ENST00000393524.6:exon17:c.T2846C:p.L949S,PHLPP2:ENST00000567016.1:exon19:c.T3152C:p.L1051S,PHLPP2:ENST00000568954.5:exon19:c.T3047C:p.L1016S -45.9163222312932 -51.5912342071533 0.9955 5.9315
5:141152584:G:A rs17844444 5 141152584 G A PCDHB6 nonsynonymous SNV PCDHB6:ENST00000231136.4:exon1:c.G2327A:p.G776D,PCDHB6:ENST00000622991.1:exon2:c.G1919A:p.G640D -45.8940267562866 8.46566963195892 0.0 -4.399
6:26409662:G:C rs41266839 6 26409662 G C BTN3A1 nonsynonymous SNV BTN3A1:ENST00000289361.11:exon5:c.G845C:p.R282T,BTN3A1:ENST00000414912.2:exon5:c.G689C:p.R230T,BTN3A1:ENST00000425234.6:exon5:c.G845C:p.R282T,BTN3A1:ENST00000476549.6:exon5:c.G845C:p.R282T 45.8917484283447 14.85009765625 0.0 -2.9535
11:66561270:A:C rs2229456 11 66561270 A C ACTN3 nonsynonymous SNV ACTN3:ENST00000502692.5:exon16:c.A2033C:p.E678A,ACTN3:ENST00000513398.2:exon16:c.A1904C:p.E635A -45.8628659248352 -30.268346786499 1.0 4.461
8:27909714:C:G rs17058207 8 27909714 C G SCARA5 nonsynonymous SNV SCARA5:ENST00000518030.1:exon3:c.G817C:p.D273H,SCARA5:ENST00000380385.6:exon4:c.G271C:p.D91H,SCARA5:ENST00000354914.8:exon5:c.G946C:p.D316H,SCARA5:ENST00000524352.5:exon5:c.G946C:p.D316H -45.8591966629028 -5.62081909179688 0.035 -0.297
12:7765340:G:A rs12818448 12 7765340 G A NANOGNB nonsynonymous SNV NANOGNB:ENST00000382119.1:exon1:c.G55A:p.A19T 45.8505859375 -50.30859375 0.0395 0.127
5:148118456:G:A rs3777134 5 148118456 G A SPINK5 nonsynonymous SNV SPINK5:ENST00000256084.8:exon23:c.G2132A:p.R711Q,SPINK5:ENST00000359874.7:exon23:c.G2132A:p.R711Q,SPINK5:ENST00000398454.5:exon23:c.G2132A:p.R711Q -45.8337459564209 5.72821807861328 0.0035 0.804
3:184035989:G:A rs36092077 3 184035989 G A HTR3D nonsynonymous SNV HTR3D:ENST00000382489.3:exon3:c.G269A:p.R90Q 45.8313293457031 19.537109375 0.122 1.779
20:38213512:G:A rs3746471 20 38213512 G A KIAA1755 nonsynonymous SNV KIAA1755:ENST00000279024.9:exon14:c.C3133T:p.R1045W -45.8291797637939 -9.85494232177734 0.993 1.8745
7:121136043:C:G rs41281692 7 121136043 C G CPED1 nonsynonymous SNV CPED1:ENST00000423795.5:exon11:c.C992G:p.A331G,CPED1:ENST00000450913.6:exon13:c.C1652G:p.A551G,CPED1:ENST00000310396.10:exon14:c.C1652G:p.A551G 45.7861328125 7.62158203125 0.0005 0.0785
14:73198010:T:C rs3025786 14 73198010 T C PSEN1 nonsynonymous SNV PSEN1:ENST00000700320.1:exon8:c.T776C:p.F259S 45.7038245201111 0.8671875 0.0835 0.721
9:124469495:C:G rs1570580 9 124469495 C G ADGRD2 nonsynonymous SNV ADGRD2:ENST00000696331.1:exon19:c.C2617G:p.R873G,ADGRD2:ENST00000706946.1:exon19:c.C2617G:p.R873G -45.5913121700287 -19.5712394714355 0.996 2.7635
9:128721272:T:A rs11539209 9 128721272 T A ZDHHC12 nonsynonymous SNV ZDHHC12:ENST00000372663.9:exon5:c.A713T:p.N238I,ZDHHC12:ENST00000372667.9:exon5:c.A755T:p.N252I -45.5502910614014 -24.8419570922852 1.0 7.623
8:246274:T:G rs2072174 8 246274 T G ZNF596 nonsynonymous SNV ZNF596:ENST00000308811.8:exon6:c.T1427G:p.V476G,ZNF596:ENST00000320552.6:exon6:c.T1427G:p.V476G,ZNF596:ENST00000398612.3:exon6:c.T1427G:p.V476G -45.5282192230225 16.8446807861328 0.0 -1.2565
11:67433341:C:T rs55987642 11 67433341 C T RPS6KB2 nonsynonymous SNV RPS6KB2:ENST00000312629.10:exon10:c.C800T:p.P267L 45.4241335391998 20.5663661956787 0.5 1.9245
19:42868926:C:G rs143301512 19 42868926 C G PSG1 nonsynonymous SNV PSG1:ENST00000403380.7:exon3:c.G539C:p.W180S,PSG1:ENST00000595124.5:exon3:c.G539C:p.W180S,PSG1:ENST00000244296.6:exon4:c.G818C:p.W273S,PSG1:ENST00000312439.10:exon4:c.G818C:p.W273S,PSG1:ENST00000436291.7:exon4:c.G818C:p.W273S,PSG1:ENST00000595356.5:exon4:c.G818C:p.W273S -45.4011373519895 -60.4936943054199 0.133 2.324
1:19906593:G:A rs10916668 1 19906593 G A OTUD3 nonsynonymous SNV OTUD3:ENST00000375120.4:exon7:c.G997A:p.A333T 45.3142547607422 13.57275390625 0.997 1.823
17:39162776:T:G rs544198 17 39162776 T G ARL5C nonsynonymous SNV ARL5C:ENST00000269586.12:exon3:c.A190C:p.M64L -45.2504386901855 0.93359375 0.239 -0.212
1:12883379:A:G rs3121079 1 12883379 A G PRAMEF4 nonsynonymous SNV PRAMEF4:ENST00000235349.6:exon2:c.T16C:p.W6R -45.243236541748 7.43757629394531 0.0 -1.3305
18:24440503:T:A rs582234 18 24440503 T A IMPACT nonsynonymous SNV IMPACT:ENST00000284202.9:exon6:c.T375A:p.D125E,IMPACT:ENST00000648078.1:exon6:c.T375A:p.D125E 45.1201171875 13.8623046875 0.0 -1.256
10:23008323:G:A rs10828395 10 23008323 G A ARMC3 nonsynonymous SNV ARMC3:ENST00000376528.8:exon12:c.G1088A:p.R363Q,ARMC3:ENST00000298032.10:exon15:c.G1877A:p.R626Q,ARMC3:ENST00000409049.7:exon15:c.G1877A:p.R626Q,ARMC3:ENST00000409983.7:exon15:c.G1877A:p.R626Q -45.0482082366925 -1.327880859375 0.9975 1.731
9:114407961:G:C rs12339210 9 114407961 G C WHRN nonsynonymous SNV WHRN:ENST00000265134.10:exon8:c.C535G:p.P179A,WHRN:ENST00000362057.4:exon8:c.C1684G:p.P562A -45.0001077651978 -2.332763671875 1.0 2.699
1:1956754:C:A rs3820011 1 1956754 C A CFAP74 nonsynonymous SNV CFAP74:ENST00000493964.5:exon17:c.G1882T:p.G628C,CFAP74:ENST00000682832.2:exon17:c.G1882T:p.G628C -44.9878883361816 -24.3518924713135 0.901 2.502
13:49668402:T:A rs76103167 13 49668402 T A EBPL nonsynonymous SNV EBPL:ENST00000378268.1:exon3:c.A409T:p.T137S 44.8798828125 3.2294921875 0.0 -0.8485
6:31030047:T:C rs12110785 6 31030047 T C MUC22 nonsynonymous SNV MUC22:ENST00000561890.1:exon2:c.T4616C:p.L1539P -44.8673400878906 -0.42462158203125 0.0 -0.12
7:121339035:C:T rs2707466 7 121339035 C T WNT16 nonsynonymous SNV WNT16:ENST00000222462.3:exon4:c.C788T:p.T263I,WNT16:ENST00000361301.6:exon4:c.C758T:p.T253I 44.8541200160976 -1.44514083862305 0.998 1.6395
19:23145630:A:G rs61744908 19 23145630 A G ZNF730 nonsynonymous SNV ZNF730:ENST00000597761.7:exon4:c.A586G:p.T196A 44.6983947753924 18.2861938476562 0.0535 1.424
2:144400291:A:G rs35213774 2 144400291 A G ZEB2 nonsynonymous SNV ZEB2:ENST00000636471.1:exon8:c.T971C:p.V324A 44.5587160587311 13.0244617462158 0.019 1.635
13:102747487:C:A rs58265842 13 102747487 C A CCDC168 nonsynonymous SNV CCDC168:ENST00000322527.4:exon4:c.G3210T:p.R1070S 44.3992767333984 13.521484375 0.004 -0.1885
18:2616458:G:C rs9051 18 2616458 G C NDC80 nonsynonymous SNV NDC80:ENST00000261597.9:exon17:c.G1813C:p.A605P 44.355712890625 1.6982421875 0.0065 -0.472
7:48279214:C:T rs2222648 7 48279214 C T ABCA13 nonsynonymous SNV ABCA13:ENST00000435803.6:exon18:c.C8020T:p.R2674W 44.1942291259766 17.3688659667969 0.3525 0.247
2:240025297:G:C rs11541494 2 240025297 G C NDUFA10 nonsynonymous SNV NDUFA10:ENST00000252711.7:exon1:c.C5G:p.A2G,NDUFA10:ENST00000307300.8:exon1:c.C5G:p.A2G,NDUFA10:ENST00000404554.5:exon1:c.C5G:p.A2G,NDUFA10:ENST00000407129.3:exon1:c.C5G:p.A2G,NDUFA10:ENST00000444548.6:exon1:c.C5G:p.A2G,NDUFA10:ENST00000448880.6:exon1:c.C5G:p.A2G,NDUFA10:ENST00000620965.5:exon1:c.C5G:p.A2G,NDUFA10:ENST00000676491.1:exon1:c.C5G:p.A2G,NDUFA10:ENST00000676782.1:exon1:c.C5G:p.A2G,NDUFA10:ENST00000677263.1:exon1:c.C5G:p.A2G,NDUFA10:ENST00000677294.1:exon1:c.C5G:p.A2G,NDUFA10:ENST00000677407.1:exon1:c.C5G:p.A2G,NDUFA10:ENST00000677567.1:exon1:c.C5G:p.A2G,NDUFA10:ENST00000678289.1:exon1:c.C5G:p.A2G,NDUFA10:ENST00000678455.1:exon1:c.C5G:p.A2G,NDUFA10:ENST00000678737.1:exon1:c.C5G:p.A2G,NDUFA10:ENST00000678914.1:exon1:c.C5G:p.A2G,NDUFA10:ENST00000679158.1:exon1:c.C5G:p.A2G -44.1929330825806 -8.5433349609375 0.999 1.898
2:63897588:C:A rs11558741 2 63897588 C A VPS54 nonsynonymous SNV VPS54:ENST00000354504.7:exon19:c.G2277T:p.M759I,VPS54:ENST00000272322.9:exon22:c.G2736T:p.M912I,VPS54:ENST00000409558.8:exon22:c.G2700T:p.M900I 44.1486568450928 15.7890625 1.0 4.424
8:18400806:G:A rs1208 8 18400806 G A NAT2 nonsynonymous SNV NAT2:ENST00000286479.4:exon2:c.G803A:p.R268K,NAT2:ENST00000520116.1:exon2:c.G413A:p.R138K 44.0987095832825 12.6809272766113 0.1505 0.1735
17:18749875:G:T rs17852531 17 18749875 G T FBXW10 nonsynonymous SNV FBXW10:ENST00000301938.4:exon3:c.G824T:p.R275L,FBXW10:ENST00000308799.8:exon3:c.G824T:p.R275L,FBXW10:ENST00000395665.9:exon3:c.G824T:p.R275L -43.9761323928833 -20.5150146484393 0.041 0.7245
6:116399351:C:T rs35548455 6 116399351 C T DSE nonsynonymous SNV DSE:ENST00000359564.3:exon2:c.C101T:p.P34L,DSE:ENST00000452085.7:exon2:c.C101T:p.P34L,DSE:ENST00000644252.3:exon2:c.C101T:p.P34L,DSE:ENST00000646710.1:exon2:c.C101T:p.P34L,DSE:ENST00000331677.7:exon3:c.C101T:p.P34L,DSE:ENST00000647244.1:exon3:c.C101T:p.P34L,DSE:ENST00000643175.1:exon4:c.C101T:p.P34L -43.9028921127319 -19.6056289672852 0.996 2.902
13:36254100:T:C rs9546897 13 36254100 T C CCDC169;CCDC169-SOHLH2 nonsynonymous SNV CCDC169:ENST00000239860.10:exon3:c.A59G:p.K20R,CCDC169-SOHLH2:ENST00000511166.1:exon3:c.A59G:p.K20R,CCDC169:ENST00000379862.6:exon4:c.A53G:p.K18R,CCDC169:ENST00000379864.6:exon4:c.A53G:p.K18R,CCDC169:ENST00000491049.6:exon4:c.A53G:p.K18R,CCDC169:ENST00000510088.5:exon4:c.A53G:p.K18R,CCDC169:ENST00000239859.8:exon5:c.A359G:p.K120R,CCDC169:ENST00000503173.5:exon5:c.A359G:p.K120R 43.9024429321307 16.39990234375 0.999 0.8595
16:53622223:G:C rs111775292 16 53622223 G C RPGRIP1L nonsynonymous SNV RPGRIP1L:ENST00000563746.5:exon22:c.C3326G:p.T1109S,RPGRIP1L:ENST00000647211.2:exon23:c.C3428G:p.T1143S -43.8782348632812 6.642578125 0.0055 -1.835
10:113592246:A:G rs11196389 10 113592246 A G NRAP nonsynonymous SNV NRAP:ENST00000360478.7:exon38:c.T4487C:p.L1496P,NRAP:ENST00000369360.7:exon38:c.T4511C:p.L1504P,NRAP:ENST00000359988.4:exon39:c.T4592C:p.L1531P,NRAP:ENST00000369358.8:exon39:c.T4592C:p.L1531P -43.8187136650085 -17.8837814331055 1.0 4.394
19:39502830:T:A rs55741253 19 39502830 T A DLL3 nonsynonymous SNV DLL3:ENST00000205143.4:exon4:c.T425A:p.L142Q,DLL3:ENST00000356433.10:exon4:c.T425A:p.L142Q -43.8059237003317 -8.33327484130859 0.9615 2.3965
1:20318593:T:A rs35480773 1 20318593 T A VWA5B1 nonsynonymous SNV VWA5B1:ENST00000289815.13:exon6:c.T713A:p.V238E,VWA5B1:ENST00000375079.6:exon6:c.T713A:p.V238E -43.790206432343 -16.9706039428711 0.501 2.909
19:19934123:G:A rs62135329 19 19934123 G A ZNF93 nonsynonymous SNV ZNF93:ENST00000343769.6:exon4:c.G1168A:p.V390I 43.7593383789062 13.0183258056641 0.0 -0.3255
1:13778644:T:A rs2076324 1 13778644 T A PRDM2 nonsynonymous SNV PRDM2:ENST00000413440.5:exon3:c.T246A:p.D82E,PRDM2:ENST00000343137.8:exon4:c.T246A:p.D82E,PRDM2:ENST00000235372.11:exon8:c.T849A:p.D283E,PRDM2:ENST00000311066.10:exon8:c.T849A:p.D283E 43.7537331581116 -19.9407253265381 0.933 0.948
1:118926565:G:T rs10494217 1 118926565 G T TBX15 nonsynonymous SNV TBX15:ENST00000207157.7:exon3:c.C148A:p.H50N,TBX15:ENST00000369429.5:exon3:c.C466A:p.H156N -43.6994388103485 0.379779815675647 0.6955 4.8655
1:13371759:A:G rs1175110892 1 13371759 A G PRAMEF19 nonsynonymous SNV PRAMEF19:ENST00000376101.4:exon1:c.T142C:p.C48R 43.6163272857666 -0.0812606811505248 0.0 -0.186
1:12716215:C:A rs3000860 1 12716215 C A AADACL3 stopgain AADACL3:ENST00000359318.8:exon1:c.C39A:p.C13X -43.6053428649902 -8.1192626953125 0.0 -1.506
17:37411381:T:C rs7211875 17 37411381 T C TADA2A nonsynonymous SNV TADA2A:ENST00000612272.4:exon2:c.T16C:p.S6P,TADA2A:ENST00000615182.5:exon2:c.T16C:p.S6P,TADA2A:ENST00000620367.4:exon2:c.T16C:p.S6P 43.5899372100848 -2.515625 1.0 3.3525
15:31002511:C:A rs3784589 15 31002511 C A TRPM1 stopgain TRPM1:ENST00000397795.7:exon27:c.G4123T:p.E1375X,TRPM1:ENST00000558445.6:exon27:c.G4240T:p.E1414X,TRPM1:ENST00000711434.1:exon27:c.G4141T:p.E1381X,TRPM1:ENST00000256552.11:exon28:c.G4189T:p.E1397X 43.5742635726929 -15.5390014648438 0.9715 1.317
1:172441827:G:A rs1063412 1 172441827 G A PIGC nonsynonymous SNV PIGC:ENST00000367728.1:exon1:c.C796T:p.P266S,PIGC:ENST00000344529.5:exon2:c.C796T:p.P266S -43.5682964324951 -16.6282005310059 1.0 5.084
6:111562855:A:G rs2280985 6 111562855 A G TRAF3IP2 nonsynonymous SNV TRAF3IP2:ENST00000699910.1:exon8:c.T1661C:p.F554S 43.5664081573486 7.65262603759766 0.0915 0.1115
16:5047946:A:G rs1127920 16 5047946 A G C16orf89 nonsynonymous SNV C16orf89:ENST00000315997.5:exon7:c.T887C:p.L296S,C16orf89:ENST00000472572.8:exon7:c.T887C:p.L296S,C16orf89:ENST00000474471.7:exon8:c.T983C:p.L328S 43.4302062988281 -1.32666015625 0.0 0.1995
2:151619514:C:G rs10172023 2 151619514 C G NEB nonsynonymous SNV NEB:ENST00000409198.5:exon70:c.G10080C:p.W3360C,NEB:ENST00000397345.8:exon73:c.G10809C:p.W3603C,NEB:ENST00000427231.7:exon73:c.G10809C:p.W3603C -43.4188621044159 -35.6546630859375 1.0 3.2865
1:100110377:G:A rs13375867 1 100110377 G A SASS6 nonsynonymous SNV SASS6:ENST00000287482.6:exon8:c.C776T:p.A259V -43.4132232666016 -4.205078125 0.011 0.636
7:135204389:G:A rs292592 7 135204389 G A WDR91 nonsynonymous SNV WDR91:ENST00000354475.5:exon6:c.C770T:p.P257L,WDR91:ENST00000423565.5:exon6:c.C665T:p.P222L,WDR91:ENST00000682802.1:exon6:c.C614T:p.P205L,WDR91:ENST00000683848.1:exon6:c.C614T:p.P205L -43.4112100601196 -28.5491561889648 0.9995 4.9745
5:140228801:C:G rs35109532 5 140228801 C G CYSTM1 nonsynonymous SNV CYSTM1:ENST00000644078.1:exon3:c.C259G:p.L87V 43.3204956054706 12.88720703125 0.9845 2.9345
19:6903909:A:G rs443658 19 6903909 A G ADGRE1 nonsynonymous SNV ADGRE1:ENST00000381407.9:exon4:c.A338G:p.N113S,ADGRE1:ENST00000381404.8:exon6:c.A605G:p.N202S,ADGRE1:ENST00000250572.12:exon7:c.A761G:p.N254S,ADGRE1:ENST00000312053.9:exon7:c.A761G:p.N254S 43.2816944122314 -3.69162750244141 0.0005 -0.139
16:75694470:A:G rs17697324 16 75694470 A G DUXB nonsynonymous SNV DUXB:ENST00000633875.4:exon5:c.T497C:p.M166T 43.2362365722656 -1.00537109375 0.0005 -1.1115
16:28499885:C:G rs147413292 16 28499885 C G IL27 nonsynonymous SNV IL27:ENST00000356897.1:exon5:c.G498C:p.E166D 43.1432762145996 8.71868896484375 0.0025 -0.1945
19:47273441:T:C rs3826792 19 47273441 T C CCDC9 nonsynonymous SNV CCDC9:ENST00000643617.1:exon14:c.T1745C:p.L582P 43.1010255813599 4.12607192993164 0.0005 -0.7945
1:47141609:C:T rs12564525 1 47141609 C T CYP4A22 nonsynonymous SNV CYP4A22:ENST00000294337.7:exon3:c.C376T:p.R126W,CYP4A22:ENST00000371890.7:exon3:c.C376T:p.R126W,CYP4A22:ENST00000371891.8:exon3:c.C376T:p.R126W,CYP4A22:ENST00000619754.4:exon3:c.C376T:p.R126W 43.0607519149785 14.2340984344482 0.9985 4.248
20:38369011:C:T rs2232613 20 38369011 C T LBP nonsynonymous SNV LBP:ENST00000217407.3:exon10:c.C998T:p.P333L -43.027645111084 -15.0341491699219 0.999 2.4685
20:14085630:C:T rs2990505 20 14085630 C T MACROD2 nonsynonymous SNV MACROD2:ENST00000217246.8:exon3:c.C173T:p.T58I,MACROD2:ENST00000642719.1:exon3:c.C173T:p.T58I,MACROD2:ENST00000684519.1:exon3:c.C173T:p.T58I 43.0148429870605 15.61328125 0.957 1.5895
19:15619692:C:T rs61746468 19 15619692 C T CYP4F8 nonsynonymous SNV CYP4F8:ENST00000612078.5:exon5:c.C455T:p.T152M -43.0146255493164 -3.30341720581055 0.5005 1.005
6:167296214:G:A rs2235197 6 167296214 G A UNC93A stopgain UNC93A:ENST00000230256.8:exon3:c.G452A:p.W151X,UNC93A:ENST00000366829.2:exon3:c.G452A:p.W151X -42.9884877204895 -77.5064353942871 1.0 5.234
7:10982603:A:G rs218966 7 10982603 A G PHF14 nonsynonymous SNV PHF14:ENST00000403050.7:exon3:c.A344G:p.K115R,PHF14:ENST00000634607.2:exon3:c.A344G:p.K115R 42.9835386276245 6.9754581451416 1.0 2.4625
17:1056046:T:C rs34169260 17 1056046 T C ABR nonsynonymous SNV ABR:ENST00000536794.6:exon9:c.A896G:p.K299R,ABR:ENST00000291107.6:exon13:c.A1439G:p.K480R,ABR:ENST00000574437.5:exon13:c.A1586G:p.K529R,ABR:ENST00000302538.10:exon14:c.A1550G:p.K517R,ABR:ENST00000544583.6:exon14:c.A1412G:p.K471R -42.9635882377625 -9.97333908081055 1.0 3.55
16:28595875:G:A rs10797300 16 28595875 G A SULT1A2 nonsynonymous SNV SULT1A2:ENST00000533150.5:exon1:c.C56T:p.P19L,SULT1A2:ENST00000335715.9:exon2:c.C56T:p.P19L,SULT1A2:ENST00000395630.5:exon2:c.C56T:p.P19L -42.948278427124 -20.337230682373 1.0 4.5495
4:87310277:G:A rs62305723 4 87310277 G A HSD17B13 nonsynonymous SNV HSD17B13:ENST00000302219.10:exon5:c.C670T:p.P224S,HSD17B13:ENST00000328546.5:exon6:c.C778T:p.P260S -42.939453125 17.068359375 0.9945 3.133
12:7741460:G:A rs73056605 12 7741460 G A CLEC4C nonsynonymous SNV CLEC4C:ENST00000540085.5:exon2:c.C103T:p.P35S,CLEC4C:ENST00000360345.8:exon3:c.C196T:p.P66S,CLEC4C:ENST00000354629.9:exon4:c.C103T:p.P35S,CLEC4C:ENST00000542353.5:exon4:c.C196T:p.P66S -42.8801879882831 8.169921875 0.0 -0.0865
13:20615802:G:A rs2442455 13 20615802 G A IFT88 nonsynonymous SNV IFT88:ENST00000351808.10:exon14:c.G1122A:p.M374I,IFT88:ENST00000319980.10:exon16:c.G1149A:p.M383I -42.817626953125 2.5546875 1.0 5.656
22:25835345:G:C rs17704912 22 25835345 G C MYO18B nonsynonymous SNV MYO18B:ENST00000335473.12:exon17:c.G3110C:p.W1037S,MYO18B:ENST00000407587.6:exon17:c.G3113C:p.W1038S,MYO18B:ENST00000536101.5:exon17:c.G3110C:p.W1037S -42.8034791946411 -43.8630676269531 1.0 4.365
19:54783002:C:T rs34721508 19 54783002 C T KIR2DL1 nonsynonymous SNV KIR2DL1:ENST00000336077.11:exon6:c.C796T:p.R266C,KIR2DL1:ENST00000291633.7:exon7:c.C874T:p.R292C 42.7931289672852 10.9802856445312 0.0 -0.6435
10:98414804:C:A rs3750601 10 98414804 C A PYROXD2 nonsynonymous SNV PYROXD2:ENST00000494941.2:exon2:c.G158T:p.C53F 42.6357107162476 10.6951599121094 0.0115 0.6465
19:48874661:G:T rs35087747 19 48874661 G T PPP1R15A nonsynonymous SNV PPP1R15A:ENST00000704027.1:exon1:c.G1476T:p.R492S,PPP1R15A:ENST00000200453.6:exon2:c.G1428T:p.R476S,PPP1R15A:ENST00000600406.2:exon2:c.G1428T:p.R476S,PPP1R15A:ENST00000704026.1:exon3:c.G1143T:p.R381S 42.5918197631836 0.419219970703125 0.0 -1.5695
19:52017354:C:T rs61574510 19 52017354 C T ZNF614 nonsynonymous SNV ZNF614:ENST00000270649.11:exon5:c.G244A:p.G82R,ZNF614:ENST00000356322.10:exon5:c.G244A:p.G82R 42.5343627929688 2.46663665771484 0.0 -1.7405
13:24494670:A:T rs9318600 13 24494670 A T PARP4 nonsynonymous SNV PARP4:ENST00000381989.4:exon7:c.T644A:p.F215Y -42.4456024169922 1.67218017577943 1.0 3.431
7:103318199:T:A rs73175837 7 103318199 T A PMPCB nonsynonymous SNV PMPCB:ENST00000706450.1:exon13:c.T1418A:p.L473H 42.4345703125 11.40625 0.0025 -0.00949999999999999
20:56386485:A:T rs2273535 20 56386485 A T AURKA nonsynonymous SNV AURKA:ENST00000347343.6:exon3:c.T91A:p.F31I,AURKA:ENST00000395907.5:exon3:c.T91A:p.F31I,AURKA:ENST00000395913.7:exon3:c.T91A:p.F31I,AURKA:ENST00000395915.8:exon3:c.T91A:p.F31I,AURKA:ENST00000312783.10:exon4:c.T91A:p.F31I,AURKA:ENST00000371356.6:exon4:c.T91A:p.F31I,AURKA:ENST00000395911.5:exon4:c.T91A:p.F31I,AURKA:ENST00000395914.5:exon4:c.T91A:p.F31I -42.4114570617676 9.7275390625 0.0 -2.4635
17:18120952:T:G rs2955367 17 18120952 T G MYO15A nonsynonymous SNV MYO15A:ENST00000647165.2:exon2:c.T2152G:p.W718G -42.4022736549377 -46.9297847747803 0.3525 0.8065
9:136755160:C:A rs2282258 9 136755160 C A LCN8 nonsynonymous SNV LCN8:ENST00000371688.8:exon6:c.G422T:p.G141V,LCN8:ENST00000612714.1:exon6:c.G491T:p.G164V -42.1352548599243 -4.46404266357422 0.001 0.796
1:178494456:C:T rs2746325 1 178494456 C T CLEC20A nonsynonymous SNV CLEC20A:ENST00000623247.3:exon2:c.G395A:p.C132Y 42.1021103858948 9.90355873108092 0.0165 0.034
19:43553422:G:A rs1799782 19 43553422 G A XRCC1 nonsynonymous SNV XRCC1:ENST00000543982.5:exon5:c.C487T:p.R163W,XRCC1:ENST00000262887.10:exon6:c.C580T:p.R194W -42.041868686676 -26.2571487426758 1.0 2.4815
2:117986054:G:A rs33975708 2 117986054 G A CCDC93 nonsynonymous SNV CCDC93:ENST00000319432.9:exon7:c.C535T:p.R179C,CCDC93:ENST00000376300.7:exon7:c.C535T:p.R179C -41.9868249893188 -5.65829086303711 0.99 1.9335
12:85038262:T:A rs7312075 12 85038262 T A LRRIQ1 nonsynonymous SNV LRRIQ1:ENST00000393217.7:exon2:c.T86A:p.I29N 41.9835357665997 19.1201171875 0.0995 -0.1645
16:3983435:T:C rs2230739 16 3983435 T C ADCY9 nonsynonymous SNV ADCY9:ENST00000294016.8:exon7:c.A2316G:p.I772M 41.9743156433105 1.61869430541992 0.0425 0.979
9:21440995:C:G rs28383794 9 21440995 C G IFNA1 nonsynonymous SNV IFNA1:ENST00000276927.3:exon1:c.C488G:p.A163G 41.9705448150635 5.24760818481445 0.9995 1.28
7:143756685:T:C rs62486288 7 143756685 T C CTAGE6 nonsynonymous SNV CTAGE6:ENST00000470691.2:exon1:c.A974G:p.N325S 41.8586845397949 9.58638763427734 0.9915 1.4075
19:45238753:C:G rs11673000 19 45238753 C G EXOC3L2 nonsynonymous SNV EXOC3L2:ENST00000413988.3:exon2:c.G293C:p.R98P -41.8397264480609 -1.5823974609375 0.7875 2.7245
5:147906491:G:A rs2250145 5 147906491 G A C5orf46 nonsynonymous SNV C5orf46:ENST00000318315.5:exon1:c.C11T:p.S4L,C5orf46:ENST00000515291.1:exon1:c.C11T:p.S4L -41.812578201293 -0.83837890625 0.9995 4.101
3:108916126:C:A rs10933973 3 108916126 C A GUCA1C;GUCA1C nonsynonymous SNV GUCA1C:ENST00000393963.7:exon3:c.G443T:p.G148V,GUCA1C:ENST00000471108.1:exon3:c.G443T:p.G148V -41.7897109985352 -10.6751022338867 1.0 1.7525
15:43828361:T:G rs678084 15 43828361 T G WDR76 nonsynonymous SNV WDR76:ENST00000263795.11:exon2:c.T457G:p.S153A,WDR76:ENST00000381246.6:exon2:c.T265G:p.S89A -41.7756881713867 1.00390625 0.9795 1.1725
19:55947976:C:T rs306507 19 55947976 C T NLRP8 nonsynonymous SNV NLRP8:ENST00000291971.7:exon1:c.C74T:p.P25L,NLRP8:ENST00000590542.1:exon1:c.C74T:p.P25L 41.7679901123029 -1.30322265625364 0.0 -2.3265
6:159200055:C:T rs62432291 6 159200055 C T FNDC1 nonsynonymous SNV FNDC1:ENST00000297267.14:exon3:c.C364T:p.P122S -41.7434577941895 -3.53825378417969 0.995 2.9855
22:31575296:T:C rs16989291 22 31575296 T C SFI1 nonsynonymous SNV SFI1:ENST00000443011.5:exon6:c.T529C:p.W177R,SFI1:ENST00000400289.5:exon8:c.T742C:p.W248R,SFI1:ENST00000540643.5:exon9:c.T916C:p.W306R,SFI1:ENST00000400288.7:exon10:c.T988C:p.W330R,SFI1:ENST00000432498.5:exon10:c.T988C:p.W330R -41.6790428161621 -4.75039672851562 1.0 2.539
6:111592059:C:T rs33980500 6 111592059 C T TRAF3IP2 nonsynonymous SNV TRAF3IP2:ENST00000359831.8:exon2:c.G28A:p.D10N,TRAF3IP2:ENST00000368761.11:exon2:c.G28A:p.D10N,TRAF3IP2:ENST00000699910.1:exon2:c.G28A:p.D10N,TRAF3IP2:ENST00000340026.10:exon3:c.G55A:p.D19N,TRAF3IP2:ENST00000651547.2:exon4:c.G28A:p.D10N -41.6614227294922 -48.3610382080078 0.506 1.8845
14:77377010:G:T rs10141317 14 77377010 G T TMED8 nonsynonymous SNV TMED8:ENST00000216468.8:exon1:c.C44A:p.P15H -41.6298828125 -12.9962005615239 1.0 2.5325
4:70518820:C:T rs35286445 4 70518820 C T AMTN nonsynonymous SNV AMTN:ENST00000339336.9:exon2:c.C43T:p.R15W,AMTN:ENST00000504451.1:exon2:c.C43T:p.R15W -41.5847625732422 3.05636596679688 0.9965 1.2445
3:10286769:T:A rs4684677 3 10286769 T A GHRL nonsynonymous SNV GHRL:ENST00000439975.6:exon2:c.A116T:p.Q39L,GHRL:ENST00000437422.6:exon3:c.A233T:p.Q78L,GHRL:ENST00000449238.6:exon3:c.A230T:p.Q77L,GHRL:ENST00000287656.11:exon5:c.A266T:p.Q89L,GHRL:ENST00000335542.13:exon5:c.A269T:p.Q90L,GHRL:ENST00000429122.1:exon5:c.A269T:p.Q90L,GHRL:ENST00000430179.5:exon5:c.A266T:p.Q89L,GHRL:ENST00000457360.5:exon5:c.A269T:p.Q90L -41.5148615837097 -12.223949432373 1.0 3.344
17:74866908:C:T rs1688149 17 74866908 C T FDXR nonsynonymous SNV FDXR:ENST00000442102.6:exon3:c.G275A:p.G92D 41.4844427108765 19.7248592376709 0.0 -2.3645
12:101714567:T:C rs3205421 12 101714567 T C CHPT1 nonsynonymous SNV CHPT1:ENST00000229266.8:exon3:c.T485C:p.F162S,CHPT1:ENST00000549872.5:exon3:c.T485C:p.F162S 41.4112710952759 7.86938858032227 1.0 5.159
15:60592395:G:T rs150952015 15 60592395 G T RORA nonsynonymous SNV RORA:ENST00000449337.6:exon1:c.C23A:p.A8E -41.378849029541 -29.5464134216309 1.0 2.7835
9:69236961:G:A rs34774441 9 69236961 G A ENSG00000285130;TJP2 nonsynonymous SNV TJP2:ENST00000348208.9:exon14:c.G2004A:p.M668I,TJP2:ENST00000377245.9:exon14:c.G2004A:p.M668I,TJP2:ENST00000535702.6:exon14:c.G2016A:p.M672I,TJP2:ENST00000539225.2:exon14:c.G2097A:p.M699I,TJP2:ENST00000649114.1:exon14:c.G2004A:p.M668I,TJP2:ENST00000649134.1:exon14:c.G2016A:p.M672I,TJP2:ENST00000649943.1:exon14:c.G2004A:p.M668I,TJP2:ENST00000650333.1:exon14:c.G1935A:p.M645I,TJP2:ENST00000636438.1:exon15:c.G2181A:p.M727I,ENSG00000285130:ENST00000642889.1:exon16:c.G2391A:p.M797I -41.3261954784393 -3.32843017578125 1.0 6.896
7:134933959:A:G rs6973420 7 134933959 A G CALD1 nonsynonymous SNV CALD1:ENST00000361675.7:exon5:c.A1190G:p.H397R 41.2367000579834 12.0412750244159 0.0 -2.056
15:100152748:G:A rs72755233 15 100152748 G A ADAMTS17 nonsynonymous SNV ADAMTS17:ENST00000268070.9:exon10:c.C1337T:p.T446I,ADAMTS17:ENST00000568565.2:exon10:c.C1337T:p.T446I -41.1967492103577 -8.19974899291992 0.975 1.0355
7:151982987:T:C rs6960270 7 151982987 T C GALNTL5 nonsynonymous SNV GALNTL5:ENST00000392800.7:exon4:c.T370C:p.C124R,GALNTL5:ENST00000431418.6:exon5:c.T370C:p.C124R 41.1048793792725 -1.48388671875 1.0 4.62
1:23074479:T:C rs1329282 1 23074479 T C KDM1A nonsynonymous SNV KDM1A:ENST00000688680.1:exon15:c.T1739C:p.V580A 41.0568847656268 14.05615234375 0.0045 -0.0975
1:169421916:A:G rs3820059 1 169421916 A G CCDC181 nonsynonymous SNV CCDC181:ENST00000367805.7:exon3:c.T515C:p.F172S,CCDC181:ENST00000367806.8:exon3:c.T515C:p.F172S,CCDC181:ENST00000545005.5:exon4:c.T515C:p.F172S 41.0326614379883 -15.7520599365234 0.0 0.176
10:94171330:G:T rs17417407 10 94171330 G T PLCE1 nonsynonymous SNV PLCE1:ENST00000371375.2:exon3:c.G719T:p.R240L,PLCE1:ENST00000371385.8:exon3:c.G719T:p.R240L,PLCE1:ENST00000675218.1:exon3:c.G719T:p.R240L,PLCE1:ENST00000688810.1:exon3:c.G719T:p.R240L,PLCE1:ENST00000371380.8:exon4:c.G1643T:p.R548L,PLCE1:ENST00000692396.1:exon4:c.G1643T:p.R548L -40.9744367599487 -48.5222644805908 0.517 1.9895
15:41342390:C:A rs7178777 15 41342390 C A ENSG00000285920;NUSAP1 nonsynonymous SNV NUSAP1:ENST00000260359.10:exon2:c.C98A:p.T33N,NUSAP1:ENST00000414849.6:exon2:c.C98A:p.T33N,NUSAP1:ENST00000559596.6:exon2:c.C98A:p.T33N,NUSAP1:ENST00000560177.5:exon2:c.C98A:p.T33N,NUSAP1:ENST00000560747.5:exon2:c.C98A:p.T33N,ENSG00000285920:ENST00000661438.1:exon3:c.C98A:p.T33N,NUSAP1:ENST00000668273.1:exon3:c.C98A:p.T33N -40.9443359375 -3.1650390625 1.0 1.065
16:56981179:G:C rs5880 16 56981179 G C CETP nonsynonymous SNV CETP:ENST00000379780.6:exon11:c.G988C:p.A330P,CETP:ENST00000200676.8:exon12:c.G1168C:p.A390P,CETP:ENST00000566128.1:exon12:c.G973C:p.A325P 40.9115524291992 1.38696289062318 1.0 1.6605
10:14934728:G:C rs35441642 10 14934728 G C DCLRE1C nonsynonymous SNV DCLRE1C:ENST00000378278.7:exon7:c.C512G:p.P171R,DCLRE1C:ENST00000378289.8:exon7:c.C512G:p.P171R,DCLRE1C:ENST00000697047.1:exon7:c.C512G:p.P171R,DCLRE1C:ENST00000697070.1:exon7:c.C512G:p.P171R,DCLRE1C:ENST00000697075.1:exon7:c.C512G:p.P171R,DCLRE1C:ENST00000697084.1:exon7:c.C512G:p.P171R 40.9049692153949 -3.26193618774414 1.0 9.659
15:41387487:G:C rs12900702 15 41387487 G C NDUFAF1 nonsynonymous SNV NDUFAF1:ENST00000260361.9:exon5:c.C941G:p.A314G,NDUFAF1:ENST00000560978.2:exon5:c.C941G:p.A314G,NDUFAF1:ENST00000676906.1:exon5:c.C482G:p.A161G 40.84228515625 0.2822265625 1.0 7.252
1:12279562:A:T rs4845898 1 12279562 A T VPS13D nonsynonymous SNV VPS13D:ENST00000613099.4:exon20:c.A4514T:p.E1505V,VPS13D:ENST00000620676.6:exon20:c.A4514T:p.E1505V -40.8381204605103 -10.9989852905273 0.993 2.6275
1:205845357:G:A rs1104899 1 205845357 G A PM20D1 nonsynonymous SNV PM20D1:ENST00000367136.5:exon3:c.C457T:p.R153W -40.8210625648499 0.3310546875 0.6005 1.1195
4:185019798:C:G rs1078461 4 185019798 C G HELT nonsynonymous SNV HELT:ENST00000338875.5:exon3:c.C439G:p.L147V,HELT:ENST00000505610.5:exon3:c.C184G:p.L62V,HELT:ENST00000515777.6:exon3:c.C184G:p.L62V -40.810257434845 -30.1705684661865 1.0 4.9965
20:58160703:A:G rs17440813 20 58160703 A G CIMIP1 nonsynonymous SNV CIMIP1:ENST00000371168.4:exon4:c.A295G:p.I99V -40.7563209533691 -1.17246246337891 1.0 5.496
20:1312402:G:A rs1048621 20 1312402 G A SDCBP2 nonsynonymous SNV SDCBP2:ENST00000381808.7:exon3:c.C412T:p.R138C,SDCBP2:ENST00000339987.7:exon7:c.C667T:p.R223C,SDCBP2:ENST00000360779.4:exon7:c.C667T:p.R223C,SDCBP2:ENST00000381812.5:exon7:c.C667T:p.R223C -40.7463908195496 -16.5770397186279 1.0 2.883
9:136253933:C:CCCACCAGGCCCAGGCGCCCGGCTCTCAG rs546644764 9 136253933 C CCCACCAGGCCCAGGCGCCCGGCTCTCAG CCDC187 stopgain CCDC187:ENST00000638797.2:exon26:c.5895delinsCTGAGAGCCGGGCGCCTGGGCCTGGTGGG:p.N1966* -40.7460823059082 -16.9163513183594 0.0 -0.589
2:11218994:G:T rs2230774 2 11218994 G T ROCK2 nonsynonymous SNV ROCK2:ENST00000401753.5:exon6:c.C563A:p.T188N,ROCK2:ENST00000315872.11:exon10:c.C1292A:p.T431N,ROCK2:ENST00000697752.1:exon10:c.C1292A:p.T431N -40.7454376220721 4.185546875 1.0 3.1735
17:42554888:G:A rs605059 17 42554888 G A HSD17B1 nonsynonymous SNV HSD17B1:ENST00000225929.5:exon6:c.G940A:p.G314S,HSD17B1:ENST00000585807.6:exon6:c.G937A:p.G313S -40.7428874969482 13.0185356140137 0.0005 -1.4235
4:163514113:A:C rs2304802 4 163514113 A C TMA16 nonsynonymous SNV TMA16:ENST00000358572.10:exon4:c.A194C:p.Q65P,TMA16:ENST00000508268.1:exon4:c.A194C:p.Q65P,TMA16:ENST00000513134.5:exon4:c.A194C:p.Q65P,TMA16:ENST00000513272.5:exon4:c.A194C:p.Q65P 40.7342529296875 17.88720703125 0.001 0.6095
19:1533973:C:G rs11084897 19 1533973 C G PLK5 nonsynonymous SNV PLK5:ENST00000334770.9:exon12:c.C757G:p.L253V,PLK5:ENST00000454744.7:exon13:c.C757G:p.L253V,PLK5:ENST00000642079.2:exon14:c.C887G:p.P296R,PLK5:ENST00000673796.1:exon15:c.C757G:p.L253V 40.7274131774921 16.7509765625 0.955 1.672
6:37663992:A:G rs10947690 6 37663992 A G MDGA1 nonsynonymous SNV MDGA1:ENST00000434837.8:exon2:c.T182C:p.L61P,MDGA1:ENST00000505425.5:exon2:c.T182C:p.L61P,MDGA1:ENST00000650466.1:exon2:c.T182C:p.L61P,MDGA1:ENST00000681439.1:exon2:c.T14C:p.L5P -40.6919140815735 -11.149471282959 1.0 6.272
19:22663821:G:A rs71355986 19 22663821 G A ZNF492 nonsynonymous SNV ZNF492:ENST00000456783.3:exon4:c.G152A:p.R51Q 40.6119995117169 -7.80578613281614 0.0 -0.6985
8:10538546:G:C rs61743179 8 10538546 G C PRSS55 nonsynonymous SNV PRSS55:ENST00000328655.8:exon5:c.G812C:p.S271T -40.5635137557983 -8.67112350463867 1.0 5.7335
20:62860142:T:C rs17854409 20 62860142 T C TCFL5 nonsynonymous SNV TCFL5:ENST00000217162.5:exon2:c.A670G:p.N224D,TCFL5:ENST00000335351.8:exon2:c.A814G:p.N272D -40.525691986084 -8.30023574829283 0.0165 0.677
5:75611678:G:A rs61164763 5 75611678 G A ANKDD1B nonsynonymous SNV ANKDD1B:ENST00000601380.4:exon1:c.G44A:p.G15E -40.4870147705078 -1.48492431640807 0.001 0.219
9:129818622:C:G rs1801968 9 129818622 C G TOR1A nonsynonymous SNV TOR1A:ENST00000351698.5:exon4:c.G646C:p.D216H,TOR1A:ENST00000651202.1:exon4:c.G742C:p.D248H -40.4796915054321 1.884765625 0.367 -0.0620000000000001
14:50904134:C:G rs34800262 14 50904134 C G ABHD12B nonsynonymous SNV ABHD12B:ENST00000353130.5:exon10:c.C772G:p.P258A,ABHD12B:ENST00000337334.7:exon12:c.C1003G:p.P335A -40.4162082672119 -4.75076293945312 0.996 4.339
4:105275672:T:G rs34402524 4 105275672 T G TET2 nonsynonymous SNV TET2:ENST00000380013.9:exon11:c.T5162G:p.L1721W,TET2:ENST00000513237.5:exon11:c.T5225G:p.L1742W,TET2:ENST00000540549.5:exon11:c.T5162G:p.L1721W -40.4068336486812 -31.065572738647 0.4925 1.5765
11:4907611:T:C rs7108225 11 4907611 T C OR51A7 nonsynonymous SNV OR51A7:ENST00000359350.5:exon1:c.T242C:p.M81T,OR51A7:ENST00000641490.1:exon2:c.T242C:p.M81T -40.4031915664673 -11.9277095794678 0.0455 1.436
17:3543591:T:C rs322937 17 3543591 T C TRPV3 nonsynonymous SNV TRPV3:ENST00000616411.4:exon4:c.A301G:p.R101G,TRPV3:ENST00000301365.8:exon5:c.A349G:p.R117G,TRPV3:ENST00000572519.1:exon5:c.A349G:p.R117G,TRPV3:ENST00000576742.6:exon5:c.A349G:p.R117G 40.3368425369263 9.80257987975892 0.9975 1.5475
2:178461008:C:G rs17304212 2 178461008 C G PJVK nonsynonymous SNV PJVK:ENST00000375129.8:exon6:c.C793G:p.R265G,PJVK:ENST00000642192.1:exon7:c.C316G:p.R106G,PJVK:ENST00000644580.2:exon7:c.C793G:p.R265G,PJVK:ENST00000645817.1:exon7:c.C316G:p.R106G,PJVK:ENST00000647226.1:exon7:c.C316G:p.R106G,PJVK:ENST00000642492.1:exon8:c.C316G:p.R106G 40.323648452757 -3.810546875 0.997 2.509
3:112340921:C:G rs1131199 3 112340921 C G CD200 nonsynonymous SNV CD200:ENST00000315711.12:exon2:c.C32G:p.S11C,CD200:ENST00000607597.2:exon2:c.C11G:p.S4C,CD200:ENST00000473539.5:exon3:c.C107G:p.S36C,CD200:ENST00000714188.1:exon3:c.C11G:p.S4C,CD200:ENST00000714205.1:exon3:c.C11G:p.S4C,CD200:ENST00000714208.1:exon3:c.C11G:p.S4C 40.2930717468262 3.787109375 0.185 0.4545
22:21045993:G:C rs12170538 22 21045993 G C LRRC74B nonsynonymous SNV LRRC74B:ENST00000442047.3:exon1:c.G7C:p.G3R -40.2601852416992 2.44259643554688 0.0005 -0.162
20:37155091:T:C rs1615246 20 37155091 T C MROH8 nonsynonymous SNV MROH8:ENST00000343811.10:exon9:c.A1046G:p.K349R,MROH8:ENST00000400440.7:exon9:c.A1046G:p.K349R 40.1755123138446 -0.46484375 0.9925 2.1215
14:20243693:C:G rs17277270 14 20243693 C G OR11H4 nonsynonymous SNV OR11H4:ENST00000641525.1:exon1:c.C872G:p.T291S,OR11H4:ENST00000641082.1:exon2:c.C872G:p.T291S 40.1485691070557 3.38740921020508 0.588 1.5745
15:81305928:T:G rs11556218 15 81305928 T G IL16 nonsynonymous SNV IL16:ENST00000394652.6:exon5:c.T1338G:p.N446K,IL16:ENST00000302987.10:exon17:c.T3582G:p.N1194K,IL16:ENST00000394660.6:exon17:c.T3441G:p.N1147K,IL16:ENST00000683961.1:exon17:c.T3441G:p.N1147K,IL16:ENST00000706926.1:exon17:c.T3441G:p.N1147K 40.1412065029144 14.9414920806885 0.5005 3.922
1:6219310:G:C rs846111 1 6219310 G C RNF207 nonsynonymous SNV RNF207:ENST00000377939.5:exon18:c.G1808C:p.G603A -40.102294921875 1.234375 0.0 -0.284
5:116092684:T:G rs1129495 5 116092684 T G COMMD10 nonsynonymous SNV COMMD10:ENST00000274458.9:exon4:c.T383G:p.I128S,COMMD10:ENST00000515539.5:exon4:c.T341G:p.I114S,COMMD10:ENST00000632434.1:exon4:c.T341G:p.I114S 40.0911827087402 -1.2890625 0.9995 2.743
19:37885845:T:A rs10408510 19 37885845 T A WDR87 nonsynonymous SNV WDR87:ENST00000303868.5:exon6:c.A7709T:p.H2570L,WDR87:ENST00000447313.7:exon6:c.A7826T:p.H2609L 40.0544052124023 30.3523044586182 0.4515 2.5475
14:73593804:C:A rs35724886 14 73593804 C A ACOT4 nonsynonymous SNV ACOT4:ENST00000326303.5:exon2:c.C560A:p.A187D -39.9447884559631 -3.357421875 0.491 1.553
22:38481456:T:G rs12004 22 38481456 T G KDELR3 nonsynonymous SNV KDELR3:ENST00000216014.9:exon4:c.T596G:p.V199G,KDELR3:ENST00000409006.3:exon4:c.T596G:p.V199G -39.9118819236755 -25.1394367218018 1.0 5.1825
1:150755063:G:A rs2230061 1 150755063 G A CTSS nonsynonymous SNV CTSS:ENST00000680664.1:exon3:c.C160T:p.R54W,CTSS:ENST00000368985.8:exon4:c.C337T:p.R113W,CTSS:ENST00000448301.7:exon4:c.C337T:p.R113W,CTSS:ENST00000679512.1:exon4:c.C337T:p.R113W,CTSS:ENST00000679582.1:exon4:c.C337T:p.R113W,CTSS:ENST00000680311.1:exon4:c.C337T:p.R113W,CTSS:ENST00000681728.1:exon4:c.C337T:p.R113W -39.8947143554688 -0.7890625 0.2065 0.4525
15:35084908:G:T rs146363687 15 35084908 G T NANOGP8 nonsynonymous SNV NANOGP8:ENST00000528386.4:exon1:c.C203A:p.S68Y -39.8169279098511 -18.7657909393329 0.536 1.8255
7:12337185:A:C rs2192828 7 12337185 A C VWDE nonsynonymous SNV VWDE:ENST00000275358.8:exon25:c.T4454G:p.F1485C 39.7994112968445 20.4902038574219 1.0 7.22
1:219983362:T:C rs5030752 1 219983362 T C EPRS1 nonsynonymous SNV EPRS1:ENST00000366923.8:exon22:c.A3127G:p.I1043V 39.7784605026245 6.21630096435729 0.9955 3.2015
17:81667744:A:T rs61742303 17 81667744 A T CCDC137 nonsynonymous SNV CCDC137:ENST00000329214.13:exon2:c.A150T:p.K50N 39.7551116943359 13.263671875 0.988 1.329
22:26458475:G:A rs1894706 22 26458475 G A HPS4 nonsynonymous SNV HPS4:ENST00000699247.1:exon9:c.C772T:p.H258Y,HPS4:ENST00000402105.7:exon10:c.C1801T:p.H601Y,HPS4:ENST00000699235.1:exon10:c.C1021T:p.H341Y,HPS4:ENST00000483631.2:exon11:c.C1021T:p.H341Y,HPS4:ENST00000336873.9:exon12:c.C1816T:p.H606Y,HPS4:ENST00000398145.7:exon12:c.C1816T:p.H606Y,HPS4:ENST00000699242.1:exon12:c.C1726T:p.H576Y,HPS4:ENST00000699251.1:exon12:c.C1816T:p.H606Y,HPS4:ENST00000422379.3:exon13:c.C1870T:p.H624Y,HPS4:ENST00000473782.2:exon13:c.C1816T:p.H606Y,HPS4:ENST00000699244.1:exon13:c.C1669T:p.H557Y -39.7229871749878 -31.608772277832 0.505 3.428
22:46313984:G:A rs6008622 22 46313984 G A GTSE1 nonsynonymous SNV GTSE1:ENST00000454366.2:exon6:c.G1022A:p.S341N 39.68994140625 -4.37890625 0.0 -1.3985
19:48703417:G:A rs601338 19 48703417 G A FUT2 stopgain FUT2:ENST00000425340.3:exon2:c.G461A:p.W154X -39.6713786125183 -32.2740631103534 1.0 3.721
16:57704898:T:A rs58373934 16 57704898 T A DRC7 nonsynonymous SNV DRC7:ENST00000336825.12:exon5:c.T527A:p.V176E,DRC7:ENST00000394337.8:exon6:c.T722A:p.V241E,DRC7:ENST00000360716.8:exon7:c.T722A:p.V241E 39.6576080322266 13.26220703125 0.0 -1.354
22:45327926:G:C rs11556482 22 45327926 G C FAM118A nonsynonymous SNV FAM118A:ENST00000405673.5:exon4:c.G385C:p.V129L,FAM118A:ENST00000441876.7:exon4:c.G385C:p.V129L,FAM118A:ENST00000216214.7:exon5:c.G385C:p.V129L 39.6479258537292 3.38612365722838 0.975 1.1195
1:26320239:A:G rs17645 1 26320239 A G CD52 nonsynonymous SNV CD52:ENST00000374213.3:exon2:c.A123G:p.I41M -39.6070251464844 -3.1923828125 0.0005 0.3535
19:57419935:C:A rs2014827 19 57419935 C A ENSG00000269533;ZNF17 nonsynonymous SNV ZNF17:ENST00000601808.1:exon3:c.C443A:p.T148K,ZNF17:ENST00000307658.12:exon4:c.C449A:p.T150K,ENSG00000269533:ENST00000596400.1:exon4:c.C479A:p.T160K -39.5958728790283 -4.71571350097656 0.0 -2.2305
12:57472038:G:C rs2228226 12 57472038 G C GLI1 nonsynonymous SNV GLI1:ENST00000543426.5:exon10:c.G2914C:p.E972Q,GLI1:ENST00000546141.5:exon11:c.G3175C:p.E1059Q,GLI1:ENST00000228682.7:exon12:c.G3298C:p.E1100Q 39.5328931808472 0.00335502624511719 0.998 5.335
2:30753095:G:T rs62142192 2 30753095 G T CAPN13 nonsynonymous SNV CAPN13:ENST00000295055.12:exon10:c.C1045A:p.Q349K -39.531135559082 1.625 0.0355 0.664
6:33080689:G:T rs1126511 6 33080689 G T HLA-DPB1 stopgain HLA-DPB1:ENST00000418931.7:exon2:c.G118T:p.G40X -39.445831298829 -7.87590026855469 0.0 -5.339
1:54782401:A:G rs12144325 1 54782401 A G TTC22 nonsynonymous SNV TTC22:ENST00000371276.9:exon6:c.T1097C:p.L366P -39.35640001297 -43.8119468688969 1.0 6.0305
6:16290530:T:A rs1042391 6 16290530 T A GMPR nonsynonymous SNV GMPR:ENST00000259727.5:exon8:c.T766A:p.F256I 39.3443069458008 6.83848190307617 1.0 4.262
19:32879164:A:G rs745961 19 32879164 A G CEP89 stoploss CEP89:ENST00000305768.10:exon19:c.T2350C:p.X784Q 39.3315238952637 -2.04014587402526 0.0305 0.5785
11:9091455:A:G rs60494098 11 9091455 A G SCUBE2 nonsynonymous SNV SCUBE2:ENST00000309263.7:exon1:c.T74C:p.L25P,SCUBE2:ENST00000450649.6:exon1:c.T74C:p.L25P,SCUBE2:ENST00000520467.5:exon1:c.T74C:p.L25P,SCUBE2:ENST00000649792.2:exon1:c.T74C:p.L25P 39.3261108398438 11.9822387695312 0.002 0.0005
4:161386160:C:A rs3749598 4 161386160 C A FSTL5 nonsynonymous SNV FSTL5:ENST00000427802.2:exon15:c.G2101T:p.D701Y,FSTL5:ENST00000306100.10:exon16:c.G2131T:p.D711Y,FSTL5:ENST00000379164.8:exon16:c.G2128T:p.D710Y -39.2477598190308 -13.9176330566406 1.0 3.242
7:128477173:G:A rs2288557 7 128477173 G A METTL2B nonsynonymous SNV METTL2B:ENST00000262432.13:exon2:c.G202A:p.V68I -39.2427778244019 -11.3535079956055 1.0 9.125
1:19771448:G:T rs10917536 1 19771448 G T TMCO4 nonsynonymous SNV TMCO4:ENST00000375127.5:exon4:c.C214A:p.Q72K,TMCO4:ENST00000294543.11:exon5:c.C214A:p.Q72K 39.2329654693604 15.06591796875 1.0 1.272
5:140561643:A:G rs250430 5 140561643 A G APBB3 nonsynonymous SNV APBB3:ENST00000356738.6:exon7:c.T706C:p.C236R,APBB3:ENST00000412920.7:exon7:c.T685C:p.C229R,APBB3:ENST00000511201.2:exon7:c.T685C:p.C229R,APBB3:ENST00000354402.9:exon8:c.T712C:p.C238R,APBB3:ENST00000357560.9:exon8:c.T691C:p.C231R,APBB3:ENST00000358580.9:exon8:c.T691C:p.C231R 39.2119798660278 28.1154804229736 1.0 3.772
2:28632091:C:T rs2199619 2 28632091 C T PLB1 nonsynonymous SNV PLB1:ENST00000422425.6:exon54:c.C3920T:p.A1307V,PLB1:ENST00000327757.10:exon55:c.C3953T:p.A1318V -39.1750917434692 -1.99452781677246 0.002 -4.057
16:2804506:T:G rs61747737 16 2804506 T G PRSS41 nonsynonymous SNV PRSS41:ENST00000674256.1:exon4:c.T746G:p.F249C,PRSS41:ENST00000399677.5:exon5:c.T659G:p.F220C -39.1543245315552 -13.2731914520264 0.323 1.735
9:127435135:A:G rs4504745 9 127435135 A G ZNF79 nonsynonymous SNV ZNF79:ENST00000342483.5:exon3:c.A151G:p.R51G,ZNF79:ENST00000612342.4:exon3:c.A79G:p.R27G,ZNF79:ENST00000543471.5:exon4:c.A79G:p.R27G 39.1471700668335 4.17401123046693 0.1005 1.1835
19:22663986:C:A rs11672238 19 22663986 C A ZNF492 nonsynonymous SNV ZNF492:ENST00000456783.3:exon4:c.C317A:p.T106K -39.123779296875 -1.14544677734375 0.0 -1.817
4:121329579:A:G rs2302310 4 121329579 A G QRFPR nonsynonymous SNV QRFPR:ENST00000394427.3:exon6:c.T1031C:p.L344S 39.0789012908936 17.5543956756592 0.567 4.1315
4:143999443:G:A rs7683365 4 143999443 G A GYPB nonsynonymous SNV GYPB:ENST00000513128.5:exon2:c.C44T:p.T15M,GYPB:ENST00000429670.3:exon3:c.C143T:p.T48M,GYPB:ENST00000502664.6:exon3:c.C143T:p.T48M,GYPB:ENST00000506516.6:exon4:c.C65T:p.T22M -39.0458984375 0.0986328125 0.0 -2.6935
18:57655270:C:T rs12968116 18 57655270 C T ATP8B1 nonsynonymous SNV ATP8B1:ENST00000648908.2:exon23:c.G2855A:p.R952Q -39.005138874054 -14.110013961792 0.9985 3.898
12:122860962:G:T rs34149579 12 122860962 G T HIP1R nonsynonymous SNV HIP1R:ENST00000253083.9:exon29:c.G2813T:p.C938F -38.9849147796626 -21.4936561584477 0.85 1.66
5:119525243:T:C rs11539471 5 119525243 T C HSD17B4 nonsynonymous SNV HSD17B4:ENST00000518349.6:exon9:c.T775C:p.W259R,HSD17B4:ENST00000513628.5:exon13:c.T1120C:p.W374R,HSD17B4:ENST00000645099.1:exon14:c.T1090C:p.W364R,HSD17B4:ENST00000515320.5:exon17:c.T1477C:p.W493R,HSD17B4:ENST00000682996.1:exon17:c.T1459C:p.W487R,HSD17B4:ENST00000509514.6:exon18:c.T1462C:p.W488R,HSD17B4:ENST00000510025.7:exon18:c.T1531C:p.W511R,HSD17B4:ENST00000646058.1:exon18:c.T1531C:p.W511R,HSD17B4:ENST00000414835.7:exon19:c.T1606C:p.W536R -38.9675159454346 -16.2862796783447 1.0 6.549
11:123805523:G:T rs4936845 11 123805523 G T OR6M1 nonsynonymous SNV OR6M1:ENST00000309154.3:exon1:c.C827A:p.T276K -38.9194250106812 -29.7673931121826 0.0005 0.3705
18:11886564:C:G rs662515 18 11886564 C G MPPE1 nonsynonymous SNV MPPE1:ENST00000344987.11:exon8:c.G736C:p.A246P,MPPE1:ENST00000588072.6:exon9:c.G802C:p.A268P 38.907112121582 1.61430931091309 0.556 1.4595
15:33153782:G:A rs114943683 15 33153782 G A FMN1 nonsynonymous SNV FMN1:ENST00000561249.5:exon1:c.C1133T:p.A378V,FMN1:ENST00000320930.7:exon4:c.C1133T:p.A378V,FMN1:ENST00000616417.5:exon4:c.C1133T:p.A378V 38.8730888366699 -22.9631576538086 0.0065 0.5455
20:34077120:G:A rs2281209 20 34077120 G A RALY nonsynonymous SNV RALY:ENST00000375114.7:exon7:c.G703A:p.G235S,RALY:ENST00000246194.8:exon8:c.G751A:p.G251S 38.8230428695679 11.0955905914307 0.445 0.9355
17:75831124:T:C rs1135688 17 75831124 T C UNC13D nonsynonymous SNV UNC13D:ENST00000207549.9:exon27:c.A2599G:p.K867E,UNC13D:ENST00000412096.6:exon27:c.A2599G:p.K867E 38.8214113712311 3.39385604858398 0.0815 -1.418
12:56716008:A:G rs2958149 12 56716008 A G NACA nonsynonymous SNV NACA:ENST00000454682.6:exon3:c.T5522C:p.L1841P,NACA:ENST00000678047.1:exon3:c.T173C:p.L58P,NACA:ENST00000550952.6:exon5:c.T2063C:p.L688P 38.8042058944702 43.9979610443115 1.0 4.659
18:10704621:C:G rs4796901 18 10704621 C G PIEZO2 nonsynonymous SNV PIEZO2:ENST00000302079.10:exon38:c.G5692C:p.E1898Q,PIEZO2:ENST00000503781.7:exon38:c.G5692C:p.E1898Q,PIEZO2:ENST00000580640.5:exon40:c.G5767C:p.E1923Q,PIEZO2:ENST00000674853.1:exon42:c.G6031C:p.E2011Q 38.7898650169373 -13.9894409179688 0.5 2.335
14:19877187:A:T rs12883767 14 19877187 A T OR4K2 nonsynonymous SNV OR4K2:ENST00000298642.2:exon1:c.A920T:p.N307I,OR4K2:ENST00000641885.1:exon2:c.A920T:p.N307I 38.7175178527832 11.9128227233887 0.0 0.3525
16:16079375:G:T rs45511401 16 16079375 G T ABCC1 nonsynonymous SNV ABCC1:ENST00000677164.1:exon15:c.G1886T:p.G629V,ABCC1:ENST00000399408.7:exon16:c.G2012T:p.G671V,ABCC1:ENST00000399410.8:exon16:c.G2012T:p.G671V -38.7160127162933 -23.2840118408203 0.528 3.879
17:45846707:T:C rs12373123 17 45846707 T C SPPL2C nonsynonymous SNV SPPL2C:ENST00000329196.7:exon1:c.T1801C:p.S601P -38.7104187011719 -10.6774826049805 0.7625 2.039
4:2904980:G:T rs4961 4 2904980 G T ADD1 nonsynonymous SNV ADD1:ENST00000398123.6:exon9:c.G1378T:p.G460W,ADD1:ENST00000398129.5:exon9:c.G1378T:p.G460W,ADD1:ENST00000264758.11:exon10:c.G1378T:p.G460W,ADD1:ENST00000398125.5:exon10:c.G1378T:p.G460W,ADD1:ENST00000503455.6:exon10:c.G1378T:p.G460W,ADD1:ENST00000513328.6:exon10:c.G1378T:p.G460W,ADD1:ENST00000683351.1:exon10:c.G1378T:p.G460W,ADD1:ENST00000355842.7:exon11:c.G1378T:p.G460W,ADD1:ENST00000651918.1:exon11:c.G1378T:p.G460W -38.6781194210048 -43.251163482666 1.0 5.3
3:193363333:G:T rs12637558 3 193363333 G T ATP13A5 nonsynonymous SNV ATP13A5:ENST00000342358.9:exon3:c.C287A:p.S96Y -38.6591987609863 -2.39863777160645 0.9995 2.4975
19:8103661:C:T rs33967815 19 8103661 C T FBN3 nonsynonymous SNV FBN3:ENST00000270509.6:exon38:c.G4840A:p.G1614S,FBN3:ENST00000600128.6:exon39:c.G4840A:p.G1614S,FBN3:ENST00000601739.5:exon39:c.G4840A:p.G1614S -38.638058423996 -3.29385566711426 0.496 2.3895
12:48526010:T:C rs2705143 12 48526010 T C OR8S1 nonsynonymous SNV OR8S1:ENST00000641651.1:exon1:c.T379C:p.C127R -38.6185359954834 -11.909912109375 1.0 2.9775
7:102465537:T:G rs10953368 7 102465537 T G LRWD1 nonsynonymous SNV LRWD1:ENST00000626402.1:exon2:c.T86G:p.V29G -38.5821828842163 -0.898046493530273 0.0 -0.73
15:65624189:A:T rs3743171 15 65624189 A T SLC24A1 nonsynonymous SNV SLC24A1:ENST00000399033.8:exon1:c.A109T:p.T37S,SLC24A1:ENST00000546330.1:exon1:c.A109T:p.T37S,SLC24A1:ENST00000261892.11:exon2:c.A109T:p.T37S,SLC24A1:ENST00000339868.10:exon2:c.A109T:p.T37S,SLC24A1:ENST00000544319.6:exon2:c.A109T:p.T37S,SLC24A1:ENST00000537259.5:exon4:c.A109T:p.T37S -38.5578556060791 -34.2642974853516 0.002 0.1255
6:87514298:C:T rs4615353 6 87514298 C T RARS2 nonsynonymous SNV RARS2:ENST00000686154.1:exon19:c.G794A:p.R265H,RARS2:ENST00000689206.1:exon21:c.G794A:p.R265H,RARS2:ENST00000691725.1:exon21:c.G1733A:p.R578H,RARS2:ENST00000693431.1:exon21:c.G1208A:p.R403H,RARS2:ENST00000690622.1:exon22:c.G794A:p.R265H 38.5259375572223 8.0078125 0.0 -0.8805
20:63678201:C:T rs41309367 20 63678201 C T RTEL1-TNFRSF6B nonsynonymous SNV RTEL1-TNFRSF6B:ENST00000492259.6:exon10:c.C976T:p.R326C 38.4964351654053 -1.83746910095215 0.0 -2.0685
19:17284194:A:G rs11086065 19 17284194 A G ANKLE1 nonsynonymous SNV ANKLE1:ENST00000394458.7:exon6:c.A1466G:p.Q489R,ANKLE1:ENST00000404085.7:exon6:c.A1304G:p.Q435R,ANKLE1:ENST00000594072.6:exon6:c.A1226G:p.Q409R,ANKLE1:ENST00000652132.1:exon6:c.A1193G:p.Q398R -38.4850234985333 8.18045043945312 0.612 0.6205
19:21727146:G:A rs7246400 19 21727146 G A ZNF100 nonsynonymous SNV ZNF100:ENST00000305570.10:exon4:c.C974T:p.T325I,ZNF100:ENST00000358296.11:exon5:c.C1166T:p.T389I 38.4519348144531 13.1432495117188 0.0 -1.4895
10:73655919:C:T rs60632610 10 73655919 C T SYNPO2L nonsynonymous SNV SYNPO2L:ENST00000394810.3:exon1:c.G4A:p.G2S -38.425151348114 -0.0766181945800781 1.0 6.647
17:43801706:T:C rs17742683 17 43801706 T C MPP3 nonsynonymous SNV MPP3:ENST00000398393.5:exon18:c.A1828G:p.R610G,MPP3:ENST00000398389.9:exon20:c.A1753G:p.R585G -38.4192390441895 -13.9527416229248 1.0 1.8575
3:66380387:T:G rs2279290 3 66380387 T G LRIG1 nonsynonymous SNV LRIG1:ENST00000273261.8:exon19:c.A3158C:p.Q1053P,LRIG1:ENST00000383703.3:exon20:c.A3089C:p.Q1030P -38.4091844558716 -13.6287231445322 1.0 2.094
1:225140738:T:G rs75827633 1 225140738 T G DNAH14 nonsynonymous SNV DNAH14:ENST00000439375.6:exon26:c.T4174G:p.Y1392D,DNAH14:ENST00000430092.5:exon27:c.T4174G:p.Y1392D 38.4082641601562 11.8746337890625 0.0005 0.1105
1:223296867:G:A rs1356482 1 223296867 G A SUSD4 nonsynonymous SNV SUSD4:ENST00000681285.1:exon3:c.C224T:p.S75L 38.38671875 10.80419921875 0.0025 -0.6005
16:67201769:C:T rs33948247 16 67201769 C T ELMO3 nonsynonymous SNV ELMO3:ENST00000360833.6:exon10:c.C895T:p.R299C,ELMO3:ENST00000477898.5:exon10:c.C607T:p.R203C,ELMO3:ENST00000393997.8:exon11:c.C946T:p.R316C,ELMO3:ENST00000652269.1:exon11:c.C1105T:p.R369C -38.3567566871643 -26.4118900299072 1.0 7.2385
4:38998685:A:G rs11542133 4 38998685 A G TMEM156 nonsynonymous SNV TMEM156:ENST00000381938.4:exon2:c.T313C:p.S105P 38.3504638671875 0.2392578125 0.889 0.792
6:151399534:T:G rs4869729 6 151399534 T G RMND1 nonsynonymous SNV RMND1:ENST00000682641.1:exon12:c.A1562C:p.E521A 38.3268737792969 13.0126953125 0.005 -0.285
11:114522930:C:T rs10891692 11 114522930 C T NXPE1 nonsynonymous SNV NXPE1:ENST00000251921.6:exon5:c.G631A:p.G211R,NXPE1:ENST00000696071.1:exon7:c.G1057A:p.G353R,NXPE1:ENST00000534921.3:exon8:c.G1057A:p.G353R -38.2954683303833 -98.1248722076416 0.999 3.234
6:7329184:C:T rs62387870 6 7329184 C T CAGE1 nonsynonymous SNV CAGE1:ENST00000338150.8:exon13:c.G2456A:p.R819Q 38.280517578125 9.5146484375 0.006 -1.705
10:93347671:G:A rs11187393 10 93347671 G A MYOF nonsynonymous SNV MYOF:ENST00000358334.9:exon36:c.C4156T:p.R1386C,MYOF:ENST00000359263.9:exon37:c.C4195T:p.R1399C -38.2468752861023 -3.87508201599121 1.0 2.324
17:76629604:A:G rs8077382 17 76629604 A G ST6GALNAC1 nonsynonymous SNV ST6GALNAC1:ENST00000156626.12:exon2:c.T239C:p.V80A 38.2386064529419 3.8931884765625 0.0 -2.681
10:88673588:T:A rs6586145 10 88673588 T A LIPF nonsynonymous SNV LIPF:ENST00000238983.9:exon7:c.T670A:p.F224I,LIPF:ENST00000608620.5:exon7:c.T571A:p.F191I,LIPF:ENST00000355843.2:exon8:c.T601A:p.F201I,LIPF:ENST00000394375.7:exon8:c.T700A:p.F234I 38.2126178741455 12.43310546875 0.0 -1.8375
1:62263112:A:G rs2666472 1 62263112 A G KANK4 nonsynonymous SNV KANK4:ENST00000371150.5:exon4:c.T587C:p.V196A,KANK4:ENST00000354381.3:exon6:c.T635C:p.V212A,KANK4:ENST00000371153.9:exon7:c.T2519C:p.V840A -38.1970701217651 -9.14016532897949 1.0 5.331
7:64928711:A:C rs2017252 7 64928711 A C ZNF273 nonsynonymous SNV ZNF273:ENST00000476120.2:exon4:c.A1383C:p.E461D 38.1690711975098 12.4989624023438 0.0 -2.722
4:184734038:G:C rs876839 4 184734038 G C CENPU nonsynonymous SNV CENPU:ENST00000281453.10:exon1:c.C25G:p.P9A 38.1218872070312 10.81689453125 0.0 -1.456
4:99339632:T:C rs698 4 99339632 T C ADH1C nonsynonymous SNV ADH1C:ENST00000515683.6:exon8:c.A1048G:p.I350V 38.0738410949707 12.86328125 1.0 3.4115
13:95887950:T:G rs12876018 13 95887950 T G UGGT2 nonsynonymous SNV UGGT2:ENST00000376747.8:exon26:c.A2980C:p.M994L 38.0528011322021 1.71533203125 1.0 1.292
16:89773358:G:C rs17232910 16 89773358 G C FANCA nonsynonymous SNV FANCA:ENST00000389301.8:exon22:c.C1927G:p.P643A,FANCA:ENST00000564475.6:exon22:c.C1927G:p.P643A,FANCA:ENST00000568369.6:exon22:c.C1927G:p.P643A,FANCA:ENST00000696287.1:exon22:c.C1927G:p.P643A -38.0011367797852 4.13330078125 0.0 -0.893
22:21013175:C:G rs3761411 22 21013175 C G ENSG00000291240 nonsynonymous SNV ENSG00000291240:ENST00000706202.1:exon5:c.G1742C:p.G581A -37.9686431884766 -0.298095703125 0.0 0.135
22:32415965:A:G rs5998478 22 32415965 A G BPIFC nonsynonymous SNV BPIFC:ENST00000397452.5:exon15:c.T1351C:p.S451P,BPIFC:ENST00000300399.9:exon16:c.T1351C:p.S451P -37.9635009765625 -2.6513671875 0.996 1.9675
11:4946238:G:A rs28698374 11 4946238 G A OR51A4 nonsynonymous SNV OR51A4:ENST00000641898.1:exon2:c.C863T:p.T288M 37.9276723861694 15.3934288024902 0.465 2.3705
12:5952393:C:T rs7962217 12 5952393 C T VWF nonsynonymous SNV VWF:ENST00000261405.10:exon49:c.G8113A:p.G2705R -37.9220476150513 -9.86389923095703 0.9205 2.793
9:137479123:C:G rs61747535 9 137479123 C G PNPLA7 nonsynonymous SNV PNPLA7:ENST00000277531.8:exon23:c.G2621C:p.W874S,PNPLA7:ENST00000406427.6:exon24:c.G2696C:p.W899S -37.9000146389008 -50.1379737854004 1.0 5.9805
11:5581699:C:A rs74053516 11 5581699 C A OR52B6 nonsynonymous SNV OR52B6:ENST00000345043.2:exon1:c.C823A:p.L275I 37.8816795349121 11.6447811126709 0.0 0.0565
19:21971930:T:C rs8108957 19 21971930 T C ZNF208 nonsynonymous SNV ZNF208:ENST00000397126.9:exon4:c.A3104G:p.D1035G 37.8614501953107 3.12367248535156 0.073 0.7465
17:75589916:C:A rs79599625 17 75589916 C A MYO15B nonsynonymous SNV MYO15B:ENST00000645453.3:exon1:c.C1859A:p.S620Y -37.8557138442993 -17.4911785125732 0.0 -0.452
6:116809381:A:C rs28360548 6 116809381 A C GPRC6A nonsynonymous SNV GPRC6A:ENST00000310357.8:exon2:c.T431G:p.I144R,GPRC6A:ENST00000368549.7:exon2:c.T431G:p.I144R,GPRC6A:ENST00000530250.1:exon2:c.T431G:p.I144R -37.8382153511047 -79.7500343322754 1.0 2.978
1:156378043:T:A rs11586833 1 156378043 T A RHBG nonsynonymous SNV RHBG:ENST00000537040.6:exon3:c.T428A:p.V143D -37.8239245414734 -50.2231063842773 0.4935 2.653
1:26343953:G:T rs36024412 1 26343953 G T CRYBG2 nonsynonymous SNV CRYBG2:ENST00000308182.10:exon2:c.C2705A:p.S902Y,CRYBG2:ENST00000475866.3:exon4:c.C3677A:p.S1226Y -37.820454120636 -49.8553276062016 0.8875 2.479
19:51746694:C:G rs2070745 19 51746694 C G FPR1 nonsynonymous SNV FPR1:ENST00000304748.5:exon2:c.G301C:p.V101L,FPR1:ENST00000600815.2:exon2:c.G301C:p.V101L,FPR1:ENST00000594900.2:exon3:c.G301C:p.V101L,FPR1:ENST00000595042.5:exon3:c.G301C:p.V101L -37.7879915237427 -4.56041145324707 0.0005 -0.5795
10:12089082:T:G rs3740015 10 12089082 T G DHTKD1 nonsynonymous SNV DHTKD1:ENST00000263035.9:exon5:c.T814G:p.Y272D 37.7516257762909 9.69574737549192 1.0 6.5145
5:132271895:G:T rs4877 5 132271895 G T PDLIM4 nonsynonymous SNV PDLIM4:ENST00000253754.8:exon6:c.G775T:p.G259C -37.6954441070557 -20.3735904693604 0.996 4.2055
1:45331833:C:G rs3219489 1 45331833 C G ENSG00000288208;MUTYH nonsynonymous SNV MUTYH:ENST00000412971.6:exon7:c.G546C:p.Q182H,MUTYH:ENST00000354383.10:exon12:c.G933C:p.Q311H,MUTYH:ENST00000355498.6:exon12:c.G930C:p.Q310H,MUTYH:ENST00000372098.7:exon12:c.G1005C:p.Q335H,MUTYH:ENST00000372110.7:exon12:c.G975C:p.Q325H,MUTYH:ENST00000372115.7:exon12:c.G972C:p.Q324H,MUTYH:ENST00000448481.5:exon12:c.G963C:p.Q321H,MUTYH:ENST00000456914.7:exon12:c.G930C:p.Q310H,MUTYH:ENST00000528013.6:exon12:c.G972C:p.Q324H,MUTYH:ENST00000672314.2:exon12:c.G930C:p.Q310H,MUTYH:ENST00000672818.3:exon12:c.G1005C:p.Q335H,MUTYH:ENST00000710952.2:exon12:c.G1014C:p.Q338H,MUTYH:ENST00000713750.1:exon12:c.G930C:p.Q310H,MUTYH:ENST00000372104.5:exon13:c.G930C:p.Q310H,MUTYH:ENST00000483127.2:exon13:c.G948C:p.Q316H,MUTYH:ENST00000713751.1:exon14:c.G951C:p.Q317H,ENSG00000288208:ENST00000671898.1:exon16:c.G1518C:p.Q506H -37.6114683151245 -5.15547943115234 0.0 -0.2975
7:151194554:A:G rs6952465 7 151194554 A G IQCA1L nonsynonymous SNV IQCA1L:ENST00000615129.4:exon13:c.T1499C:p.L500P -37.5862667560577 -5.67742919921875 0.3815 3.5685
10:68199485:C:A rs7079481 10 68199485 C A MYPN nonsynonymous SNV MYPN:ENST00000354393.7:exon17:c.C2578A:p.P860T,MYPN:ENST00000358913.10:exon17:c.C3403A:p.P1135T,MYPN:ENST00000540630.6:exon17:c.C3457A:p.P1153T,MYPN:ENST00000613327.5:exon18:c.C3403A:p.P1135T -37.5545632839203 -11.0998439788818 1.0 7.905
1:246988255:A:G rs2642992 1 246988255 A G ZNF670-ZNF695;ZNF695 nonsynonymous SNV ZNF695:ENST00000339986.8:exon4:c.T260C:p.V87A,ZNF670-ZNF695:ENST00000465049.6:exon4:c.T224C:p.V75A,ZNF695:ENST00000487338.6:exon4:c.T260C:p.V87A 37.5470123290997 -8.6343994140625 0.0 -0.894
17:27643607:G:A rs361497 17 27643607 G A LGALS9 nonsynonymous SNV LGALS9:ENST00000395473.7:exon5:c.G527A:p.G176E -37.5255432128906 0.83154296875 0.109 1.056
12:9150700:A:T rs10842971 12 9150700 A T PZP nonsynonymous SNV PZP:ENST00000261336.7:exon34:c.T4328A:p.I1443N -37.4847774505615 -1.89143371582031 0.0515 1.312
1:152350656:G:T rs12568784 1 152350656 G T FLG2 stopgain FLG2:ENST00000388718.5:exon3:c.C7130A:p.S2377X -37.4731140136721 -5.82144165039062 0.0 -1.2995
1:11772232:C:A rs61773952 1 11772232 C A C1orf167 nonsynonymous SNV C1orf167:ENST00000433342.6:exon8:c.C1475A:p.P492H,C1orf167:ENST00000688073.1:exon8:c.C1961A:p.P654H 37.4466094970667 2.1279296875 0.0005 0.3505
22:37185382:G:C rs229526 22 37185382 G C C1QTNF6 nonsynonymous SNV C1QTNF6:ENST00000337843.7:exon2:c.C125G:p.P42R,C1QTNF6:ENST00000397110.6:exon2:c.C125G:p.P42R,C1QTNF6:ENST00000434784.1:exon2:c.C125G:p.P42R -37.4388656616211 -0.973854064941406 1.0 4.11
7:57469291:T:C rs10272498 7 57469291 T C ZNF716 nonsynonymous SNV ZNF716:ENST00000420713.2:exon4:c.T830C:p.V277A -37.3452987670898 -2.895751953125 0.0 -2.1105
22:32193036:C:T rs136478 22 32193036 C T RFPL2 nonsynonymous SNV RFPL2:ENST00000248983.8:exon3:c.G422A:p.C141Y,RFPL2:ENST00000400237.2:exon4:c.G422A:p.C141Y,RFPL2:ENST00000652607.2:exon4:c.G422A:p.C141Y -37.3317565917969 -0.517242431640625 0.0005 -0.4085
6:166307736:C:G rs7757150 6 166307736 C G PRR18 nonsynonymous SNV PRR18:ENST00000322583.5:exon1:c.G407C:p.C136S 37.2398638725281 21.6101188659668 0.711 0.2065
19:48015984:C:G rs3745751 19 48015984 C G ELSPBP1 nonsynonymous SNV ELSPBP1:ENST00000339841.7:exon4:c.C300G:p.C100W -37.2034320831299 1.978515625 0.5425 0.5045
4:41257616:C:A rs5030732 4 41257616 C A UCHL1 nonsynonymous SNV UCHL1:ENST00000284440.9:exon3:c.C53A:p.S18Y,UCHL1:ENST00000508768.5:exon3:c.C53A:p.S18Y,UCHL1:ENST00000512788.1:exon3:c.C53A:p.S18Y,UCHL1:ENST00000503431.5:exon4:c.C53A:p.S18Y -37.1976428031917 -17.1302947998047 0.4595 1.04
11:5226561:C:G rs10768683 11 5226561 C G HBB nonsynonymous SNV HBB:ENST00000485743.1:exon2:c.G331C:p.A111P 37.1797904968262 11.6232719421387 0.0 -2.396
10:113645905:C:T rs3121478 10 113645905 C T NRAP nonsynonymous SNV NRAP:ENST00000359988.4:exon11:c.G1030A:p.A344T,NRAP:ENST00000360478.7:exon11:c.G1030A:p.A344T,NRAP:ENST00000369358.8:exon11:c.G1030A:p.A344T,NRAP:ENST00000369360.7:exon11:c.G1030A:p.A344T -37.1560821533203 -1.99609375 0.48 -0.471
1:54653861:C:T rs17399810 1 54653861 C T MROH7;MROH7-TTC4 nonsynonymous SNV MROH7:ENST00000339553.9:exon3:c.C935T:p.S312F,MROH7:ENST00000395690.6:exon3:c.C935T:p.S312F,MROH7-TTC4:ENST00000414150.6:exon3:c.C935T:p.S312F,MROH7:ENST00000421030.7:exon3:c.C935T:p.S312F -37.1439895629883 -18.2914886474609 0.069 0.7075
19:10005832:C:T rs2303098 19 10005832 C T COL5A3 nonsynonymous SNV COL5A3:ENST00000264828.4:exon3:c.G401A:p.R134H 37.1379752159119 4.73978042602539 0.0005 -0.156
6:142134594:C:A rs9376674 6 142134594 C A GJE1 nonsynonymous SNV GJE1:ENST00000450456.3:exon3:c.C290A:p.A97E -37.1259956359863 0.912319183353247 1.0 3.3955
11:74398121:A:G rs12049823 11 74398121 A G PGM2L1 nonsynonymous SNV PGM2L1:ENST00000298198.5:exon1:c.T41C:p.L14P -37.1234459877014 -22.9857234954834 1.0 3.324
8:132710920:A:G rs1895807 8 132710920 A G TMEM71 nonsynonymous SNV TMEM71:ENST00000523829.5:exon9:c.T877C:p.W293R 37.114013671875 0.65283203125 0.0045 -1.228
9:135485652:G:T rs34151777 9 135485652 G T PPP1R26 nonsynonymous SNV PPP1R26:ENST00000605660.1:exon1:c.G1142T:p.R381L,PPP1R26:ENST00000401470.3:exon3:c.G1142T:p.R381L,PPP1R26:ENST00000604351.5:exon3:c.G1142T:p.R381L,PPP1R26:ENST00000356818.7:exon4:c.G1142T:p.R381L,PPP1R26:ENST00000605286.5:exon4:c.G1142T:p.R381L -37.0922574996948 -19.4024143218994 1.0 2.759
14:50885627:G:A rs35375734 14 50885627 G A ABHD12B nonsynonymous SNV ABHD12B:ENST00000353130.5:exon4:c.G269A:p.G90D,ABHD12B:ENST00000337334.7:exon6:c.G500A:p.G167D -37.0911107063293 -3.68006896972838 0.022 0.4155
7:77406075:T:C rs6949654 7 77406075 T C GSAP nonsynonymous SNV GSAP:ENST00000257626.12:exon2:c.A140G:p.H47R -37.0883178710938 -0.67529296875 0.848 1.131
19:20806858:A:G rs370551 19 20806858 A G ZNF66 nonsynonymous SNV ZNF66:ENST00000344519.10:exon4:c.A1258G:p.T420A 37.0464782714862 20.1005859375 0.5895 1.744
17:35478131:T:C rs2304968 17 35478131 T C SLFN12L nonsynonymous SNV SLFN12L:ENST00000260908.13:exon3:c.A1094G:p.Y365C,SLFN12L:ENST00000628453.4:exon4:c.A1220G:p.Y407C -36.98095703125 -0.6484375 0.0 -1.793
9:87923373:C:T rs199825147 9 87923373 C T SPATA31C1 stopgain SPATA31C1:ENST00000706933.1:exon4:c.C3466T:p.R1156X -36.9696197509766 -1.2294921875 0.0005 -0.494
21:46416633:T:C rs35346764 21 46416633 T C PCNT nonsynonymous SNV PCNT:ENST00000359568.10:exon30:c.T6715C:p.W2239R,PCNT:ENST00000480896.5:exon30:c.T6361C:p.W2121R,PCNT:ENST00000695558.1:exon31:c.T6748C:p.W2250R 36.9595394134521 20.033203125 0.0 -1.277
17:9772817:G:A rs2280490 17 9772817 G A DHRS7C nonsynonymous SNV DHRS7C:ENST00000330255.9:exon5:c.C680T:p.S227L,DHRS7C:ENST00000571134.2:exon5:c.C677T:p.S226L -36.9523100852966 -5.98114013671875 0.9995 5.173
19:49427529:C:A rs4801798 19 49427529 C A GFY nonsynonymous SNV GFY:ENST00000610896.3:exon2:c.C1099A:p.P367T,GFY:ENST00000576655.5:exon3:c.C1099A:p.P367T -36.8830070495605 -4.95125198364258 0.7075 2.1665
19:51745958:T:G rs867228 19 51745958 T G FPR1 nonsynonymous SNV FPR1:ENST00000304748.5:exon2:c.A1037C:p.E346A,FPR1:ENST00000600815.2:exon2:c.A1037C:p.E346A,FPR1:ENST00000594900.2:exon3:c.A1037C:p.E346A,FPR1:ENST00000595042.5:exon3:c.A1037C:p.E346A -36.8794298171997 -4.95958328247252 0.0005 0.5345
11:68041801:C:T rs36027301 11 68041801 C T TCIRG1 nonsynonymous SNV TCIRG1:ENST00000265686.8:exon3:c.C166T:p.R56W,TCIRG1:ENST00000698254.1:exon3:c.C166T:p.R56W,TCIRG1:ENST00000698255.1:exon3:c.C166T:p.R56W -36.8793468475346 -44.1012706756592 0.945 2.276
8:109444782:A:G rs72687015 8 109444782 A G PKHD1L1 nonsynonymous SNV PKHD1L1:ENST00000378402.10:exon38:c.A4913G:p.Y1638C -36.784912109375 -18.4385299682654 1.0 4.2045
18:31318331:A:G rs1426310 18 31318331 A G DSG1 nonsynonymous SNV DSG1:ENST00000257192.5:exon1:c.A31G:p.M11V 36.7485046386719 -1.826171875 0.817 0.8855
1:117939526:C:T rs34973445 1 117939526 C T WDR3 nonsynonymous SNV WDR3:ENST00000349139.6:exon6:c.C629T:p.A210V -36.745313167572 -2.12803649902344 0.8525 2.7535
8:72075403:G:A rs13268757 8 72075403 G A TRPA1 nonsynonymous SNV TRPA1:ENST00000262209.5:exon1:c.C7T:p.R3C -36.7320079803467 -2.47998046875 0.999 1.197
1:110167098:G:A rs12737742 1 110167098 G A SLC6A17 nonsynonymous SNV SLC6A17:ENST00000331565.5:exon2:c.G169A:p.A57T 36.7268161773682 13.0565357208252 0.0 0.636
6:155130218:G:A rs931312 6 155130218 G A TIAM2 nonsynonymous SNV TIAM2:ENST00000360366.8:exon1:c.G995A:p.R332H,TIAM2:ENST00000529824.6:exon1:c.G995A:p.R332H,TIAM2:ENST00000682666.1:exon4:c.G995A:p.R332H,TIAM2:ENST00000461783.7:exon6:c.G995A:p.R332H 36.7227916717529 15.3612995147705 0.5005 2.81
17:75592461:A:G rs736521 17 75592461 A G MYO15B nonsynonymous SNV MYO15B:ENST00000645453.3:exon8:c.A2749G:p.K917E 36.7116143703461 10.4292221069336 1.0 6.5445
1:46817100:C:T rs2297809 1 46817100 C T CYP4B1 nonsynonymous SNV CYP4B1:ENST00000371919.8:exon8:c.C1081T:p.R361C,CYP4B1:ENST00000271153.8:exon9:c.C1123T:p.R375C,CYP4B1:ENST00000371923.9:exon9:c.C1126T:p.R376C -36.6076817512512 -53.3021812438965 1.0 7.47
3:101694767:G:A rs62282252 3 101694767 G A ENSG00000293268 nonsynonymous SNV ENSG00000293268:ENST00000715157.1:exon1:c.G1763A:p.G588E,ENSG00000293268:ENST00000715156.1:exon2:c.G1976A:p.G659E 36.5570449829102 11.8891677856445 0.436 0.0625
11:5390165:C:A rs9783355 11 5390165 C A OR51M1 nonsynonymous SNV OR51M1:ENST00000328611.5:exon1:c.C767A:p.P256H,OR51M1:ENST00000642046.1:exon3:c.C767A:p.P256H 36.5528707504272 27.6823921203618 0.5005 3.737
2:3514872:T:C rs7566663 2 3514872 T C ADI1 nonsynonymous SNV ADI1:ENST00000382093.5:exon1:c.A38G:p.H13R 36.4684829711914 23.236328125 0.0025 -0.867
14:74057166:A:G rs3742809 14 74057166 A G BBOF1 nonsynonymous SNV BBOF1:ENST00000394009.5:exon11:c.A1486G:p.K496E -36.465051651001 -2.224609375 0.7905 0.911
11:34895110:C:T rs61734605 11 34895110 C T APIP nonsynonymous SNV APIP:ENST00000395787.4:exon2:c.G58A:p.D20N -36.4617509841919 -1.54756546020326 1.0 6.865
11:554214:G:C rs10902171 11 554214 G C LRRC56 nonsynonymous SNV LRRC56:ENST00000270115.8:exon14:c.G1567C:p.D523H -36.4206457138062 -0.694782257080078 0.007 0.924
10:71791212:G:A rs10466026 10 71791212 G A CDH23 nonsynonymous SNV CDH23:ENST00000224721.12:exon47:c.G6130A:p.E2044K 36.3758249282837 -1.22595787048158 1.0 3.305
5:90683874:A:G rs41303352 5 90683874 A G ADGRV1 nonsynonymous SNV ADGRV1:ENST00000405460.9:exon28:c.A5953G:p.N1985D 36.3451232910156 2.76200866699219 1.0 3.476
17:18790964:G:A rs61075345 17 18790964 G A TVP23B nonsynonymous SNV TVP23B:ENST00000307767.13:exon3:c.G164A:p.G55E,TVP23B:ENST00000574226.5:exon3:c.G164A:p.G55E 36.3303391933441 3.80883789062682 0.9945 2.231
11:125896278:A:C rs622756 11 125896278 A C PUS3 nonsynonymous SNV PUS3:ENST00000530811.5:exon1:c.T7G:p.Y3D,PUS3:ENST00000227474.8:exon2:c.T7G:p.Y3D 36.3060793876643 4.3543872833252 0.967 0.6825
19:34944165:A:G rs765746 19 34944165 A G ZNF30 nonsynonymous SNV ZNF30:ENST00000303586.11:exon5:c.A1202G:p.Y401C,ZNF30:ENST00000439785.5:exon5:c.A1202G:p.Y401C,ZNF30:ENST00000601142.2:exon5:c.A1199G:p.Y400C 36.2877101898193 10.7530364990234 0.0 -0.4845
1:153341677:C:A rs3006448 1 153341677 C A PGLYRP4 nonsynonymous SNV PGLYRP4:ENST00000359650.10:exon6:c.G575T:p.G192V,PGLYRP4:ENST00000368739.3:exon6:c.G563T:p.G188V 36.2842407226562 3.50982666015625 0.9375 0.8105
1:150968149:T:G rs267738 1 150968149 T G CERS2 nonsynonymous SNV CERS2:ENST00000561294.5:exon3:c.A317C:p.E106A,CERS2:ENST00000271688.10:exon4:c.A344C:p.E115A,CERS2:ENST00000368954.10:exon4:c.A344C:p.E115A -36.2831223011017 -34.7872486114502 1.0 6.2625
1:12861684:T:G rs1063798 1 12861684 T G PRAMEF2 nonsynonymous SNV PRAMEF2:ENST00000240189.2:exon4:c.T1330G:p.F444V 36.2656478881836 0.0170707702636719 0.0 -0.9905
12:113159061:G:A rs1048889 12 113159061 G A DDX54 nonsynonymous SNV DDX54:ENST00000306014.10:exon20:c.C2462T:p.P821L,DDX54:ENST00000314045.11:exon20:c.C2465T:p.P822L -36.2401928901672 3.50358963012695 1.0 7.0575
13:45713882:C:A rs79707842 13 45713882 C A CBY2 stopgain CBY2:ENST00000378966.3:exon2:c.C749A:p.S250X,CBY2:ENST00000310521.6:exon3:c.C857A:p.S286X,CBY2:ENST00000610924.1:exon3:c.C749A:p.S250X -36.2138085365295 -21.560941696167 0.0 -1.203
2:101452410:T:A rs4851449 2 101452410 T A RFX8 nonsynonymous SNV RFX8:ENST00000646446.1:exon3:c.A109T:p.R37W,RFX8:ENST00000646893.2:exon3:c.A235T:p.R79W 36.2112007141113 6.951171875 0.98 0.796
13:110469273:C:T rs9583500 13 110469273 C T COL4A2 nonsynonymous SNV COL4A2:ENST00000360467.7:exon28:c.C2152T:p.P718S,COL4A2:ENST00000400163.8:exon28:c.C2152T:p.P718S,COL4A2:ENST00000480609.2:exon28:c.C2152T:p.P718S,COL4A2:ENST00000494852.3:exon28:c.C2152T:p.P718S,COL4A2:ENST00000649951.2:exon28:c.C2152T:p.P718S,COL4A2:ENST00000714396.1:exon28:c.C2152T:p.P718S,COL4A2:ENST00000714399.1:exon29:c.C2233T:p.P745S 36.1824450492859 -4.09728813171387 0.832 0.848
10:112175621:T:C rs10787428 10 112175621 T C GPAM nonsynonymous SNV GPAM:ENST00000348367.9:exon6:c.A392G:p.E131G,GPAM:ENST00000369425.5:exon6:c.A392G:p.E131G -36.1419792175293 -9.10704803466797 1.0 7.064
6:110438805:A:G rs12210538 6 110438805 A G SLC22A16 nonsynonymous SNV SLC22A16:ENST00000368919.8:exon5:c.T1226C:p.M409T,SLC22A16:ENST00000330550.8:exon7:c.T1124C:p.M375T -36.1019954681396 -16.7427062988281 0.996 4.2845
15:35084921:C:A rs2257251 15 35084921 C A NANOGP8 nonsynonymous SNV NANOGP8:ENST00000528386.4:exon1:c.G190T:p.D64Y -36.0900130271912 -17.4627304077148 0.0 -0.839
17:5500950:C:T rs55910638 17 5500950 C T ENSG00000286190 nonsynonymous SNV ENSG00000286190:ENST00000568641.2:exon1:c.G7A:p.D3N -36.0019021034241 -7.51925468444824 0.702 0.678
1:205584957:G:C rs7526132 1 205584957 G C MFSD4A nonsynonymous SNV MFSD4A:ENST00000536357.2:exon4:c.G776C:p.G259A,MFSD4A:ENST00000367147.9:exon5:c.G941C:p.G314A 35.9748125076294 1.56979370117188 0.5 -1.1325
9:76295325:A:C rs2842480 9 76295325 A C PCSK5 nonsynonymous SNV PCSK5:ENST00000545128.5:exon26:c.A3236C:p.E1079A,PCSK5:ENST00000674117.1:exon26:c.A3236C:p.E1079A -35.9343490600586 0.185901641847522 0.451 0.572
9:136800069:T:G rs4546744 9 136800069 T G CCDC183 nonsynonymous SNV CCDC183:ENST00000338005.7:exon4:c.T338G:p.L113R -35.9218835830688 -38.019947052002 0.9715 1.6755
17:35121799:T:C rs1871892 17 35121799 T C FNDC8 nonsynonymous SNV FNDC8:ENST00000158009.6:exon1:c.T106C:p.S36P -35.9163627624512 -1.10888671875 0.0175 0.1435
3:150562658:C:G rs1132979 3 150562658 C G EIF2A nonsynonymous SNV EIF2A:ENST00000487799.5:exon3:c.C215G:p.T72S,EIF2A:ENST00000273435.9:exon4:c.C275G:p.T92S,EIF2A:ENST00000406576.7:exon4:c.C290G:p.T97S,EIF2A:ENST00000460851.6:exon4:c.C290G:p.T97S 35.9086532592792 4.833984375 0.998 1.7585
11:114705904:A:T rs1356428 11 114705904 A T NXPE2 nonsynonymous SNV NXPE2:ENST00000389586.6:exon5:c.A1052T:p.N351I 35.8902206420898 10.4195632934589 0.0 -1.2215
8:55810998:T:G rs7823773 8 55810998 T G TGS1 nonsynonymous SNV TGS1:ENST00000260129.6:exon11:c.T2261G:p.F754C 35.8643741607666 14.5749206542969 0.0 -0.5435
4:186153679:A:G rs4862650 4 186153679 A G FAM149A nonsynonymous SNV FAM149A:ENST00000502970.5:exon4:c.A121G:p.K41E,FAM149A:ENST00000227065.8:exon5:c.A121G:p.K41E,FAM149A:ENST00000389354.7:exon5:c.A967G:p.K323E,FAM149A:ENST00000503432.5:exon5:c.A121G:p.K41E,FAM149A:ENST00000514153.5:exon5:c.A121G:p.K41E,FAM149A:ENST00000706927.1:exon5:c.A994G:p.K332E 35.8291215896606 -0.7294921875 1.0 4.673
3:196319959:A:G rs113750354 3 196319959 A G TM4SF19 nonsynonymous SNV TM4SF19:ENST00000446879.5:exon6:c.T839C:p.F280S 35.767578125 -11.615234375 0.0015 -0.0755
15:89292997:G:C rs2283432 15 89292997 G C FANCI nonsynonymous SNV FANCI:ENST00000696718.1:exon21:c.G1688C:p.C563S,FANCI:ENST00000300027.12:exon22:c.G2225C:p.C742S,FANCI:ENST00000310775.12:exon22:c.G2225C:p.C742S,FANCI:ENST00000674831.1:exon22:c.G2225C:p.C742S,FANCI:ENST00000696717.1:exon22:c.G1946C:p.C649S,FANCI:ENST00000676003.1:exon23:c.G2225C:p.C742S,FANCI:ENST00000696719.1:exon23:c.G2225C:p.C742S -35.7411546707153 0.394348144529431 1.0 3.366
9:6328947:T:C rs3847262 9 6328947 T C TPD52L3 nonsynonymous SNV TPD52L3:ENST00000314556.4:exon1:c.T352C:p.F118L,TPD52L3:ENST00000344545.6:exon1:c.T352C:p.F118L,TPD52L3:ENST00000381428.1:exon1:c.T352C:p.F118L -35.7310447692871 3.273193359375 0.6735 1.9375
1:151760859:T:G rs8480 1 151760859 T G MRPL9 nonsynonymous SNV MRPL9:ENST00000368829.3:exon5:c.A527C:p.E176A,MRPL9:ENST00000368830.8:exon6:c.A629C:p.E210A -35.7265934944153 2.75154113769349 0.999 3.951
14:22422803:G:A rs2072615 14 22422803 G A TRDV2 nonsynonymous SNV TRDV2:ENST00000390469.2:exon2:c.G106A:p.V36I -35.7261095046997 0.947837829588025 0.0 -0.7095
22:42020052:A:G rs133335 22 42020052 A G WBP2NL nonsynonymous SNV WBP2NL:ENST00000328823.13:exon4:c.A362G:p.D121G 35.7145051956177 -3.478515625 0.9745 2.764
7:64526451:G:C rs73128772 7 64526451 G C ZNF680 nonsynonymous SNV ZNF680:ENST00000447137.2:exon4:c.C320G:p.S107C 35.7109375 2.271484375 0.005 0.0175
1:111312316:G:T rs41282496 1 111312316 G T CHIA nonsynonymous SNV CHIA:ENST00000343320.10:exon3:c.G182T:p.R61M,CHIA:ENST00000369740.6:exon4:c.G182T:p.R61M 35.695013999939 17.9065856933594 0.9915 3.437
9:34017108:C:T rs1785506 9 34017108 C T UBAP2 nonsynonymous SNV UBAP2:ENST00000360802.6:exon2:c.G41A:p.R14Q,UBAP2:ENST00000379238.7:exon2:c.G41A:p.R14Q,UBAP2:ENST00000379239.9:exon2:c.G41A:p.R14Q,UBAP2:ENST00000682239.1:exon2:c.G41A:p.R14Q,UBAP2:ENST00000684158.1:exon3:c.G41A:p.R14Q -35.68798828125 1.041015625 1.0 7.0645
21:31998810:C:T rs10775648 21 31998810 C T HUNK nonsynonymous SNV HUNK:ENST00000270112.7:exon11:c.C1771T:p.R591C -35.6470112800598 -11.7356395721426 0.1835 2.203
17:39699581:C:A rs4252596 17 39699581 C A ERBB2 nonsynonymous SNV ERBB2:ENST00000541774.5:exon1:c.C22A:p.P8T -35.646427154541 -0.116729736328125 0.003 0.432
18:50805183:T:C rs2849233 18 50805183 T C MRO nonsynonymous SNV MRO:ENST00000431965.6:exon4:c.A442G:p.T148A,MRO:ENST00000436348.6:exon4:c.A442G:p.T148A,MRO:ENST00000588444.5:exon4:c.A400G:p.T134A,MRO:ENST00000256425.6:exon5:c.A400G:p.T134A,MRO:ENST00000398439.8:exon5:c.A400G:p.T134A,MRO:ENST00000428869.6:exon6:c.A400G:p.T134A -35.6184644699097 -7.9677734375 1.0 2.889
6:34864079:T:C rs13205210 6 34864079 T C BLTP3A nonsynonymous SNV BLTP3A:ENST00000192788.6:exon15:c.T3293C:p.M1098T -35.5998616218567 -1.9716796875 1.0 6.3155
16:69456172:A:G rs7206737 16 69456172 A G CYB5B nonsynonymous SNV CYB5B:ENST00000692677.1:exon4:c.A341G:p.D114G 35.5947265625 13.5849609375 0.0005 -0.9205
19:21538001:C:T rs2562473 19 21538001 C T ZNF429 nonsynonymous SNV ZNF429:ENST00000358491.9:exon4:c.C1948T:p.H650Y 35.5859680175745 12.887451171875 0.0 -1.406
7:51026572:G:A rs61737954 7 51026572 G A COBL nonsynonymous SNV COBL:ENST00000265136.12:exon11:c.C3478T:p.H1160Y,COBL:ENST00000395542.6:exon12:c.C3649T:p.H1217Y,COBL:ENST00000431948.6:exon13:c.C3724T:p.H1242Y -35.5817775726318 -14.4873657226562 0.5005 2.3705
1:54807907:G:T rs9782980 1 54807907 G T CIMAP2 nonsynonymous SNV CIMAP2:ENST00000358193.7:exon4:c.G376T:p.G126C,CIMAP2:ENST00000371273.4:exon4:c.G376T:p.G126C -35.5427622795105 -36.9389457702637 0.9995 4.464
20:45723981:G:A rs6017667 20 45723981 G A SPINT4 nonsynonymous SNV SPINT4:ENST00000279058.4:exon2:c.G217A:p.G73S -35.5099906921387 -1.0966796875 0.9985 3.933
8:73257102:T:C rs2546217 8 73257102 T C C8orf89 nonsynonymous SNV C8orf89:ENST00000613105.4:exon2:c.A152G:p.E51G,C8orf89:ENST00000624510.4:exon2:c.A152G:p.E51G,C8orf89:ENST00000625134.1:exon2:c.A152G:p.E51G 35.4795379638672 -5.353515625 0.996 0.2915
1:11785165:T:C rs55867221 1 11785165 T C C1orf167 nonsynonymous SNV C1orf167:ENST00000433342.6:exon16:c.T2957C:p.V986A,C1orf167:ENST00000688073.1:exon16:c.T3443C:p.V1148A -35.4140319824219 -1.7171630859375 0.0 -1.032
4:69596324:C:T rs4148301 4 69596324 C T UGT2A1;UGT2A2 nonsynonymous SNV UGT2A1:ENST00000503640.5:exon3:c.G922A:p.G308R,UGT2A2:ENST00000604629.6:exon3:c.G949A:p.G317R -35.3893384933463 -30.699951171875 0.822 3.735
6:89662855:A:C rs36040566 6 89662855 A C MDN1 nonsynonymous SNV MDN1:ENST00000369393.8:exon86:c.T14349G:p.D4783E 35.3816528320312 17.6484375 0.5 1.876
19:40749595:C:G rs2254343 19 40749595 C G ACTMAP nonsynonymous SNV ACTMAP:ENST00000378313.7:exon1:c.G209C:p.R70P 35.3553380966187 6.25313758850098 1.0 3.826
7:64219721:C:A rs4320434 7 64219721 C A ZNF735 nonsynonymous SNV ZNF735:ENST00000429565.5:exon4:c.C670A:p.H224N -35.3514099121112 -1.61431884765625 0.0 -8.348
7:57469686:A:C rs13235676 7 57469686 A C ZNF716 nonsynonymous SNV ZNF716:ENST00000420713.2:exon4:c.A1225C:p.K409Q 35.3223114013672 12.9048156738281 0.0 -3.3365
1:1930143:C:T rs2803295 1 1930143 C T CFAP74 nonsynonymous SNV CFAP74:ENST00000493964.5:exon26:c.G3205A:p.G1069R,CFAP74:ENST00000682832.2:exon26:c.G3205A:p.G1069R -35.1727814674377 -37.4560852050781 1.0 3.2875
14:20369542:G:C rs938886 14 20369542 G C TEP1 nonsynonymous SNV TEP1:ENST00000556935.5:exon51:c.C7134G:p.I2378M,TEP1:ENST00000262715.10:exon53:c.C7458G:p.I2486M 35.1680593490601 3.139404296875 0.504 0.6025
7:75494147:C:T rs71560466 7 75494147 C T SPDYE5 nonsynonymous SNV SPDYE5:ENST00000625065.4:exon2:c.C100T:p.R34W -35.1414337158203 -5.12750244140625 0.001 -0.3515
11:125838398:T:G rs12224646 11 125838398 T G PATE4 nonsynonymous SNV PATE4:ENST00000534411.5:exon2:c.T151G:p.C51G,PATE4:ENST00000457514.3:exon3:c.T268G:p.C90G -35.1280727386475 -2.76025390625 0.2165 0.6705
6:135202636:A:G rs7762830 6 135202636 A G MYB nonsynonymous SNV MYB:ENST00000616088.4:exon14:c.A1921G:p.R641G 35.1232795715332 13.6376457214355 0.0 -1.0275
20:188087:T:A rs4813043 20 188087 T A DEFB128 nonsynonymous SNV DEFB128:ENST00000334391.5:exon2:c.A81T:p.K27N -35.1074628829956 -9.28689575195131 0.0055 -0.181
10:102450978:C:A rs2281878 10 102450978 C A C10orf95 nonsynonymous SNV C10orf95:ENST00000625129.1:exon2:c.G116T:p.S39I -35.0467019081116 -16.0425987243652 0.5775 0.273
1:6554475:G:A rs4908923 1 6554475 G A NOL9 nonsynonymous SNV NOL9:ENST00000377705.6:exon1:c.C28T:p.R10W -35.0129089355469 -10.6045799255371 0.004 0.372
12:10997455:C:T rs79420812 12 10997455 C T TAS2R20 nonsynonymous SNV TAS2R20:ENST00000538986.2:exon1:c.G421A:p.V141I 34.9816856384277 1.08707046508789 0.0 -2.659
16:12803721:G:T rs3748976 16 12803721 G T CPPED1 nonsynonymous SNV CPPED1:ENST00000261660.4:exon1:c.C56A:p.A19D,CPPED1:ENST00000381774.9:exon1:c.C56A:p.A19D,CPPED1:ENST00000433677.6:exon1:c.C56A:p.A19D 34.9806022644043 3.6865234375 1.0 1.1385
15:45676237:T:C rs1044032 15 45676237 T C ENSG00000260170;SQOR nonsynonymous SNV SQOR:ENST00000260324.12:exon6:c.T791C:p.I264T,ENSG00000260170:ENST00000564080.1:exon6:c.T791C:p.I264T,SQOR:ENST00000568606.5:exon7:c.T791C:p.I264T -34.9208498001099 -16.9525146484375 0.893 3.0655
9:133440409:C:G rs28647808 9 133440409 C G ADAMTS13 nonsynonymous SNV ADAMTS13:ENST00000355699.7:exon16:c.C1852G:p.P618A,ADAMTS13:ENST00000356589.6:exon16:c.C1759G:p.P587A,ADAMTS13:ENST00000371916.5:exon16:c.C1108G:p.P370A,ADAMTS13:ENST00000371929.7:exon16:c.C1852G:p.P618A -34.9200210571289 -17.2288150787354 1.0 6.556
2:107879979:T:A rs832352 2 107879979 T A RGPD4 nonsynonymous SNV RGPD4:ENST00000408999.4:exon21:c.T4936A:p.W1646R -34.9132385253906 -1.85546875 1.0 5.796
9:111700042:A:G rs6477845 9 111700042 A G SHOC1 nonsynonymous SNV SHOC1:ENST00000394777.8:exon19:c.T2681C:p.L894P,SHOC1:ENST00000394779.7:exon20:c.T2786C:p.L929P,SHOC1:ENST00000374287.7:exon21:c.T2903C:p.L968P,SHOC1:ENST00000318737.8:exon22:c.T2903C:p.L968P,SHOC1:ENST00000682961.1:exon24:c.T3095C:p.L1032P 34.9022521972656 4.9169921875 0.558 0.923
19:10557997:A:G rs1982074 19 10557997 A G KRI1 nonsynonymous SNV KRI1:ENST00000312962.12:exon14:c.T1334C:p.L445P,KRI1:ENST00000652042.1:exon14:c.T1352C:p.L451P -34.8833272457123 -5.96920585632324 0.5025 3.2715
20:9516069:C:G rs2232264 20 9516069 C G LAMP5 nonsynonymous SNV LAMP5:ENST00000246070.3:exon3:c.C307G:p.Q103E 34.8657646179199 8.70454597473145 1.0 7.9355
16:20480678:A:G rs9924150 16 20480678 A G ACSM2A nonsynonymous SNV ACSM2A:ENST00000396104.2:exon10:c.A1387G:p.N463D,ACSM2A:ENST00000417235.6:exon10:c.A1150G:p.N384D,ACSM2A:ENST00000573854.6:exon11:c.A1387G:p.N463D,ACSM2A:ENST00000219054.10:exon12:c.A1387G:p.N463D,ACSM2A:ENST00000575690.5:exon12:c.A1387G:p.N463D 34.7591490745544 12.7129135131836 1.0 5.9055
8:132572310:A:G rs9297853 8 132572310 A G DNAAF11 nonsynonymous SNV DNAAF11:ENST00000519595.5:exon12:c.T1397C:p.I466T,DNAAF11:ENST00000620350.5:exon12:c.T1397C:p.I466T -34.7201046943665 -7.41485595703125 1.0 5.5005
7:138918170:G:C rs2718131 7 138918170 G C KIAA1549 nonsynonymous SNV KIAA1549:ENST00000422774.2:exon2:c.C1456G:p.P486A,KIAA1549:ENST00000440172.5:exon2:c.C1456G:p.P486A -34.7079048156738 -26.3171768188477 1.0 3.0645
1:151038849:C:T rs61751619 1 151038849 C T BNIPL nonsynonymous SNV BNIPL:ENST00000650563.1:exon3:c.C10T:p.R4C,BNIPL:ENST00000295294.11:exon4:c.C10T:p.R4C,BNIPL:ENST00000368931.8:exon4:c.C256T:p.R86C -34.6917123794556 -13.8950195312464 0.9965 2.1555
22:37185445:C:A rs229527 22 37185445 C A C1QTNF6 nonsynonymous SNV C1QTNF6:ENST00000337843.7:exon2:c.G62T:p.G21V,C1QTNF6:ENST00000397110.6:exon2:c.G62T:p.G21V,C1QTNF6:ENST00000434784.1:exon2:c.G62T:p.G21V -34.6791810989384 0.909944534302213 0.9995 1.3475
8:73976381:G:C rs8075 8 73976381 G C TMEM70 nonsynonymous SNV TMEM70:ENST00000312184.6:exon1:c.G100C:p.A34P,TMEM70:ENST00000517439.1:exon1:c.G100C:p.A34P 34.6627502441406 13.0525054931641 0.001 0.556
1:42497129:A:T rs3748841 1 42497129 A T CCDC30 nonsynonymous SNV CCDC30:ENST00000340612.6:exon4:c.A201T:p.Q67H,CCDC30:ENST00000655164.1:exon5:c.A273T:p.Q91H,CCDC30:ENST00000657597.2:exon5:c.A273T:p.Q91H,CCDC30:ENST00000661864.1:exon5:c.A273T:p.Q91H,CCDC30:ENST00000664805.1:exon5:c.A273T:p.Q91H,CCDC30:ENST00000665176.1:exon5:c.A273T:p.Q91H,CCDC30:ENST00000667205.1:exon5:c.A273T:p.Q91H,CCDC30:ENST00000668663.1:exon5:c.A273T:p.Q91H,CCDC30:ENST00000671281.1:exon5:c.A273T:p.Q91H,CCDC30:ENST00000660083.1:exon6:c.A273T:p.Q91H 34.6392631530762 11.21337890625 0.968 2.3865
2:132783032:G:T rs13016342 2 132783032 G T NCKAP5 nonsynonymous SNV NCKAP5:ENST00000409261.6:exon14:c.C3779A:p.P1260Q -34.6147990226746 -21.9599781036377 1.0 4.158
11:77872220:G:A rs2186564 11 77872220 G A AAMDC nonsynonymous SNV AAMDC:ENST00000393427.7:exon4:c.G274A:p.V92M,AAMDC:ENST00000525034.1:exon4:c.G274A:p.V92M,AAMDC:ENST00000525409.5:exon4:c.G178A:p.V60M,AAMDC:ENST00000526415.5:exon5:c.G274A:p.V92M,AAMDC:ENST00000533193.5:exon5:c.G412A:p.V138M -34.5967669487 -14.6243553161585 1.0 6.1675
20:25418154:G:A rs6076347 20 25418154 G A GINS1 nonsynonymous SNV GINS1:ENST00000262460.5:exon4:c.G289A:p.V97I,GINS1:ENST00000696804.1:exon4:c.G289A:p.V97I,GINS1:ENST00000696814.1:exon4:c.G289A:p.V97I,GINS1:ENST00000696894.1:exon4:c.G289A:p.V97I,GINS1:ENST00000484893.2:exon5:c.G184A:p.V62I -34.5839462280273 2.00806045532227 0.993 4.275
2:70936043:C:T rs17720303 2 70936043 C T ATP6V1B1 nonsynonymous SNV ATP6V1B1:ENST00000234396.10:exon1:c.C89T:p.T30I,ATP6V1B1:ENST00000412314.5:exon1:c.C89T:p.T30I -34.5758466720581 -18.6092758178711 0.913 1.137
18:14105017:C:A rs61609068 18 14105017 C A ZNF519 nonsynonymous SNV ZNF519:ENST00000590202.3:exon3:c.G1523T:p.R508I 34.5287475585938 14.4637298584003 0.0 -0.2625
7:22494837:T:C rs7787814 7 22494837 T C STEAP1B nonsynonymous SNV STEAP1B:ENST00000404369.8:exon2:c.A19G:p.I7V,STEAP1B:ENST00000406890.6:exon2:c.A19G:p.I7V,STEAP1B:ENST00000678116.1:exon2:c.A19G:p.I7V 34.524169921875 12.7734375 0.9535 0.7715
6:139255599:C:T rs17068451 6 139255599 C T TXLNB nonsynonymous SNV TXLNB:ENST00000358430.8:exon7:c.G1042A:p.V348M -34.4860429763794 1.79779052734375 1.0 0.91
11:58610951:A:G rs8373 11 58610951 A G ZFP91;ZFP91-CNTF nonsynonymous SNV ZFP91:ENST00000316059.7:exon5:c.A619G:p.S207G,ZFP91-CNTF:ENST00000389919.8:exon5:c.A619G:p.S207G 34.4752902984619 10.78515625 1.0 4.1385
11:74129796:C:A rs3018187 11 74129796 C A C2CD3 nonsynonymous SNV C2CD3:ENST00000680718.1:exon8:c.G1264T:p.A422S -34.46142578125 -20.365234375 0.0415 -1.1765
1:61328484:C:T rs71641728 1 61328484 C T NFIA nonsynonymous SNV NFIA:ENST00000699987.1:exon4:c.C668T:p.T223M 34.453125 7.39453125 0.028 -0.4535
1:37761414:A:T rs4653328 1 37761414 A T EPHA10 nonsynonymous SNV EPHA10:ENST00000319637.6:exon3:c.T841A:p.F281I,EPHA10:ENST00000373048.9:exon3:c.T841A:p.F281I,EPHA10:ENST00000427468.6:exon3:c.T841A:p.F281I 34.4052543640137 5.77392196655273 0.291 -0.0225
1:11030859:C:A rs12711521 1 11030859 C A MASP2 nonsynonymous SNV MASP2:ENST00000700091.1:exon7:c.G913T:p.D305Y,MASP2:ENST00000400897.8:exon9:c.G1111T:p.D371Y,MASP2:ENST00000699958.1:exon9:c.G1006T:p.D336Y,MASP2:ENST00000700088.1:exon9:c.G1111T:p.D371Y,MASP2:ENST00000700093.1:exon9:c.G1087T:p.D363Y,MASP2:ENST00000700095.1:exon9:c.G1111T:p.D371Y,MASP2:ENST00000700097.1:exon9:c.G1111T:p.D371Y -34.4045248031616 -1.82890319823855 0.0095 -0.9215
9:27561630:T:C rs17769294 9 27561630 T C C9orf72 nonsynonymous SNV C9orf72:ENST00000379995.1:exon5:c.A620G:p.N207S,C9orf72:ENST00000379997.7:exon5:c.A620G:p.N207S,C9orf72:ENST00000380003.8:exon5:c.A620G:p.N207S,C9orf72:ENST00000619707.5:exon5:c.A620G:p.N207S,C9orf72:ENST00000644136.1:exon5:c.A620G:p.N207S,C9orf72:ENST00000647196.1:exon6:c.A620G:p.N207S 34.3656048774719 2.19964599609557 1.0 4.5645
11:6921245:C:A rs10839658 11 6921245 C A OR2D3 nonsynonymous SNV OR2D3:ENST00000317834.5:exon1:c.C244A:p.L82I 34.3651208877563 10.3177433013916 0.4915 4.0015
11:55795860:A:T rs76383258 11 55795860 A T OR5D14 nonsynonymous SNV OR5D14:ENST00000335605.1:exon1:c.A305T:p.Q102L -34.3563108444214 -22.7821636199969 0.502 3.286
19:55147019:T:C rs112562759 19 55147019 T C TNNT1 nonsynonymous SNV TNNT1:ENST00000291901.12:exon3:c.A35G:p.E12G,TNNT1:ENST00000356783.9:exon3:c.A35G:p.E12G,TNNT1:ENST00000588426.5:exon3:c.A10G:p.S4G,TNNT1:ENST00000588981.6:exon3:c.A35G:p.E12G,TNNT1:ENST00000587758.5:exon4:c.A35G:p.E12G 34.3496160507202 2.65032958984193 0.9965 3.306
16:15073034:T:C rs2941256 16 15073034 T C RRN3 nonsynonymous SNV RRN3:ENST00000429751.6:exon11:c.A954G:p.I318M,RRN3:ENST00000198767.11:exon12:c.A1044G:p.I348M,RRN3:ENST00000327307.11:exon12:c.A945G:p.I315M,RRN3:ENST00000563559.5:exon12:c.A1044G:p.I348M -34.3451509475708 1.6953125 0.9305 4.076
17:81647906:T:TTAAC rs10536197 17 81647906 T TTAAC TSPAN10 stopgain TSPAN10:ENST00000611590.2:exon4:c.680delinsTTAAC:p.C229*,TSPAN10:ENST00000696048.1:exon4:c.680delinsTTAAC:p.C229* -34.3432683944702 -32.3439884185791 0.9235 1.8895
3:47004356:C:T rs2305637 3 47004356 C T NBEAL2 nonsynonymous SNV NBEAL2:ENST00000651747.1:exon36:c.C6059T:p.S2020F,NBEAL2:ENST00000450053.8:exon37:c.C6161T:p.S2054F -34.3351445198059 -14.606323242188 0.505 2.416
22:16969625:G:A rs2041607 22 16969625 G A GAB4 stopgain GAB4:ENST00000643316.1:exon4:c.C1255T:p.R419X -34.3233184814453 1.12353515625 1.0 3.492
1:244730596:G:A rs116088157 1 244730596 G A C1orf202 nonsynonymous SNV C1orf202:ENST00000640271.3:exon1:c.C328T:p.R110W -34.316837310791 -11.3726806640625 0.0175 0.7145
20:3304493:T:C rs2422864 20 3304493 T C DNAAF9 nonsynonymous SNV DNAAF9:ENST00000252032.10:exon21:c.A1729G:p.R577G 34.311842918396 27.4889068603516 0.831 1.53
5:163482710:C:T rs299295 5 163482710 C T HMMR nonsynonymous SNV HMMR:ENST00000432118.6:exon10:c.C1193T:p.A398V,HMMR:ENST00000353866.7:exon12:c.C1406T:p.A469V,HMMR:ENST00000358715.3:exon13:c.C1451T:p.A484V,HMMR:ENST00000393915.9:exon13:c.C1454T:p.A485V -34.3117065429688 2.990234375 0.3175 1.0415
13:24905403:A:C rs17402892 13 24905403 A C CENPJ nonsynonymous SNV CENPJ:ENST00000381884.9:exon7:c.T2635G:p.S879A 34.2830862998962 12.6752815246582 0.033 -0.0295
14:80955834:C:A rs2234919 14 80955834 C A TSHR nonsynonymous SNV TSHR:ENST00000298171.7:exon1:c.C154A:p.P52T,TSHR:ENST00000342443.10:exon1:c.C154A:p.P52T,TSHR:ENST00000554263.5:exon1:c.C154A:p.P52T,TSHR:ENST00000554435.1:exon1:c.C154A:p.P52T,TSHR:ENST00000642209.1:exon1:c.C154A:p.P52T,TSHR:ENST00000541158.6:exon2:c.C154A:p.P52T -34.2391605377197 -3.40899467468262 0.2145 0.805
10:68166577:C:G rs10823148 10 68166577 C G MYPN nonsynonymous SNV MYPN:ENST00000354393.7:exon10:c.C1059G:p.F353L,MYPN:ENST00000358913.10:exon10:c.C1884G:p.F628L,MYPN:ENST00000373675.4:exon10:c.C1884G:p.F628L,MYPN:ENST00000540630.6:exon10:c.C1938G:p.F646L,MYPN:ENST00000613327.5:exon11:c.C1884G:p.F628L -34.2193658351898 -0.143247604366479 0.9985 2.924
6:30920384:T:C rs2249464 6 30920384 T C VARS2 nonsynonymous SNV VARS2:ENST00000321897.9:exon13:c.T1345C:p.W449R,VARS2:ENST00000625423.2:exon13:c.T925C:p.W309R,VARS2:ENST00000672801.1:exon13:c.T1339C:p.W447R,VARS2:ENST00000541562.6:exon14:c.T1345C:p.W449R,VARS2:ENST00000676266.1:exon14:c.T1345C:p.W449R 34.179616689682 9.95919609069824 0.353 0.7105
4:75960080:G:T rs34627298 4 75960080 G T SDAD1 nonsynonymous SNV SDAD1:ENST00000395711.8:exon16:c.C1358A:p.A453D,SDAD1:ENST00000356260.10:exon17:c.C1469A:p.A490D 34.1699590682983 9.73388671875 0.0175 1.3415
5:78129204:A:T rs6453373 5 78129204 A T AP3B1 nonsynonymous SNV AP3B1:ENST00000255194.11:exon16:c.T1754A:p.V585E,AP3B1:ENST00000517940.2:exon16:c.T1754A:p.V585E,AP3B1:ENST00000519295.6:exon16:c.T1607A:p.V536E,AP3B1:ENST00000519888.6:exon16:c.T1754A:p.V585E,AP3B1:ENST00000695453.1:exon16:c.T1697A:p.V566E,AP3B1:ENST00000695454.1:exon16:c.T1748A:p.V583E,AP3B1:ENST00000695455.1:exon16:c.T1607A:p.V536E,AP3B1:ENST00000695510.1:exon16:c.T1754A:p.V585E,AP3B1:ENST00000695511.1:exon16:c.T1754A:p.V585E,AP3B1:ENST00000695512.1:exon16:c.T1754A:p.V585E,AP3B1:ENST00000695513.1:exon16:c.T1619A:p.V540E,AP3B1:ENST00000695514.1:exon16:c.T1754A:p.V585E,AP3B1:ENST00000695515.1:exon16:c.T1754A:p.V585E 34.1494727134705 11.3591804504395 1.0 7.0955
9:122567846:C:G rs10739614 9 122567846 C G OR1L8 nonsynonymous SNV OR1L8:ENST00000641027.1:exon5:c.G632C:p.R211P 34.1195983886719 16.123966217041 0.0 -0.5105
3:122913049:A:T rs2276782 3 122913049 A T SEMA5B nonsynonymous SNV SEMA5B:ENST00000195173.8:exon17:c.T2345A:p.V782D,SEMA5B:ENST00000648990.1:exon17:c.T2342A:p.V781D,SEMA5B:ENST00000650207.1:exon17:c.T2417A:p.V806D,SEMA5B:ENST00000357599.8:exon18:c.T2519A:p.V840D,SEMA5B:ENST00000451055.6:exon18:c.T2681A:p.V894D,SEMA5B:ENST00000616742.4:exon18:c.T2519A:p.V840D 34.1111948490143 19.032808303833 1.0 5.1485
4:99124465:C:T rs1126673 4 99124465 C T ADH4 nonsynonymous SNV ADH4:ENST00000265512.12:exon9:c.G1120A:p.V374I,ADH4:ENST00000505590.5:exon10:c.G1177A:p.V393I,ADH4:ENST00000508393.5:exon10:c.G1177A:p.V393I 34.107421875 -2.314453125 0.999 1.0125
1:15770439:C:T rs10927851 1 15770439 C T FBLIM1 nonsynonymous SNV FBLIM1:ENST00000332305.5:exon2:c.C281T:p.S94F,FBLIM1:ENST00000441801.6:exon5:c.C572T:p.S191F,FBLIM1:ENST00000375766.8:exon6:c.C572T:p.S191F,FBLIM1:ENST00000375771.5:exon7:c.C572T:p.S191F -34.0988433361053 0.46923828125 0.7735 1.844
19:15475861:A:T rs892145 19 15475861 A T PGLYRP2 nonsynonymous SNV PGLYRP2:ENST00000292609.8:exon2:c.T809A:p.M270K,PGLYRP2:ENST00000340880.5:exon2:c.T809A:p.M270K -34.0955104827881 -14.7913856506366 0.018 0.2065
19:54106385:T:G rs254266 19 54106385 T G NDUFA3 nonsynonymous SNV NDUFA3:ENST00000391762.5:exon4:c.T196G:p.C66G 34.0923762321472 9.24169921875 0.0015 0.06
11:55796285:G:A rs61896309 11 55796285 G A OR5D14 nonsynonymous SNV OR5D14:ENST00000335605.1:exon1:c.G730A:p.A244T 34.0533142089844 -0.847732543945312 0.0 -0.4775
12:109573425:C:T rs10774775 12 109573425 C T MMAB nonsynonymous SNV MMAB:ENST00000537236.2:exon1:c.G56A:p.R19H,MMAB:ENST00000540016.5:exon1:c.G56A:p.R19H,MMAB:ENST00000545712.7:exon1:c.G56A:p.R19H -34.0393104553223 -4.52775955200195 0.8075 1.975
20:33086040:A:G rs2070325 20 33086040 A G BPIFB4 nonsynonymous SNV BPIFB4:ENST00000674031.1:exon4:c.A1168G:p.I390V,BPIFB4:ENST00000375483.4:exon7:c.A802G:p.I268V -34.0322299003601 -2.80761337280273 0.9975 3.0775
1:246507179:C:G rs7520453 1 246507179 C G SMYD3 nonsynonymous SNV SMYD3:ENST00000403792.7:exon1:c.G39C:p.K13N,SMYD3:ENST00000490107.6:exon1:c.G39C:p.K13N 34.0211362838745 2.15364837646666 0.0005 0.4015
2:151455056:G:A rs2444263 2 151455056 G A RIF1 nonsynonymous SNV RIF1:ENST00000243326.9:exon21:c.G2506A:p.G836S,RIF1:ENST00000430328.6:exon21:c.G2506A:p.G836S,RIF1:ENST00000428287.6:exon22:c.G2506A:p.G836S,RIF1:ENST00000444746.7:exon22:c.G2506A:p.G836S,RIF1:ENST00000453091.6:exon22:c.G2506A:p.G836S -34.0019836425781 -1.0908203125 0.003 0.38
14:20223729:C:A rs10140652 14 20223729 C A OR11H6 nonsynonymous SNV OR11H6:ENST00000315519.3:exon1:c.C20A:p.S7Y 33.9699611663818 15.6545886993408 0.0 -1.6105
12:121915890:A:G rs14259 12 121915890 A G PSMD9 nonsynonymous SNV PSMD9:ENST00000542602.1:exon3:c.A275G:p.E92G,PSMD9:ENST00000261817.6:exon5:c.A587G:p.E196G,PSMD9:ENST00000541212.6:exon5:c.A590G:p.E197G -33.9265689849844 -4.37685012817201 0.9995 1.759
17:48770002:C:A rs2032844 17 48770002 C A TTLL6 nonsynonymous SNV TTLL6:ENST00000433608.6:exon7:c.G1215T:p.E405D,TTLL6:ENST00000393382.8:exon14:c.G2136T:p.E712D 33.9151763916016 2.6494140625 0.0065 -0.1965
10:94355078:G:A rs12572897 10 94355078 G A NOC3L nonsynonymous SNV NOC3L:ENST00000371361.3:exon6:c.C581T:p.P194L -33.9122161865234 0.50885009765625 1.0 4.6075
10:95384069:T:C rs35808802 10 95384069 T C SORBS1 nonsynonymous SNV SORBS1:ENST00000371241.5:exon10:c.A824G:p.Y275C,SORBS1:ENST00000371239.5:exon11:c.A851G:p.Y284C,SORBS1:ENST00000607232.5:exon12:c.A821G:p.Y274C,SORBS1:ENST00000649575.2:exon12:c.A824G:p.Y275C,SORBS1:ENST00000354106.7:exon13:c.A1364G:p.Y455C,SORBS1:ENST00000371245.7:exon13:c.A1109G:p.Y370C,SORBS1:ENST00000306402.10:exon14:c.A947G:p.Y316C,SORBS1:ENST00000371249.6:exon14:c.A1220G:p.Y407C,SORBS1:ENST00000649911.2:exon14:c.A851G:p.Y284C,SORBS1:ENST00000277982.9:exon15:c.A1520G:p.Y507C,SORBS1:ENST00000361941.7:exon15:c.A1454G:p.Y485C,SORBS1:ENST00000371227.8:exon15:c.A1316G:p.Y439C,SORBS1:ENST00000371246.6:exon17:c.A1520G:p.Y507C,SORBS1:ENST00000371247.7:exon17:c.A1454G:p.Y485C -33.9062142372131 -19.9060134887695 0.989 1.4375
2:58188980:C:A rs1100188 2 58188980 C A FANCL nonsynonymous SNV FANCL:ENST00000696550.1:exon8:c.G557T:p.R186I 33.901611328125 6.12133789062682 0.0 -0.019
1:201047168:G:A rs3850625 1 201047168 G A CACNA1S nonsynonymous SNV CACNA1S:ENST00000367338.7:exon37:c.C4558T:p.R1520C,CACNA1S:ENST00000681874.1:exon37:c.C4555T:p.R1519C,CACNA1S:ENST00000362061.4:exon38:c.C4615T:p.R1539C -33.825065612793 -5.67459487914675 0.9655 3.917
16:3536230:C:T rs9790 16 3536230 C T CLUAP1 nonsynonymous SNV CLUAP1:ENST00000572600.5:exon8:c.C703T:p.R235W,CLUAP1:ENST00000576634.6:exon12:c.C1201T:p.R401W,CLUAP1:ENST00000341633.9:exon13:c.C1258T:p.R420W -33.8101177215576 -35.7655982971191 0.9165 1.564
3:12501699:G:A rs56013339 3 12501699 G A TSEN2 nonsynonymous SNV TSEN2:ENST00000680354.1:exon4:c.G340A:p.E114K,TSEN2:ENST00000680275.1:exon5:c.G340A:p.E114K -33.7879028320312 -1.8154296875 0.004 -0.16
19:20023037:C:T rs7255165 19 20023037 C T ZNF682 nonsynonymous SNV ZNF682:ENST00000597972.5:exon2:c.G211A:p.V71M,ZNF682:ENST00000397162.5:exon3:c.G97A:p.V33M,ZNF682:ENST00000397165.7:exon3:c.G193A:p.V65M,ZNF682:ENST00000593468.5:exon3:c.G193A:p.V65M,ZNF682:ENST00000596019.5:exon3:c.G193A:p.V65M,ZNF682:ENST00000358523.9:exon5:c.G97A:p.V33M 33.7756500244141 6.0234375 0.027 -0.127
3:101347873:T:A rs2433031 3 101347873 T A SENP7 nonsynonymous SNV SENP7:ENST00000394091.5:exon10:c.A1344T:p.Q448H,SENP7:ENST00000314261.11:exon12:c.A1638T:p.Q546H,SENP7:ENST00000348610.3:exon12:c.A1737T:p.Q579H,SENP7:ENST00000394094.6:exon12:c.A1641T:p.Q547H,SENP7:ENST00000394095.7:exon13:c.A1836T:p.Q612H -33.7685546875 -0.087890625 1.0 0.9925
15:73927205:G:T rs1048661 15 73927205 G T LOXL1 nonsynonymous SNV LOXL1:ENST00000261921.8:exon1:c.G422T:p.R141L -33.7676856517792 -18.460298538208 0.7655 1.2065
10:113621988:G:A rs868738 10 113621988 G A NRAP nonsynonymous SNV NRAP:ENST00000360478.7:exon23:c.C2545T:p.R849C,NRAP:ENST00000369360.7:exon23:c.C2569T:p.R857C,NRAP:ENST00000359988.4:exon24:c.C2650T:p.R884C,NRAP:ENST00000369358.8:exon24:c.C2650T:p.R884C -33.7606177330017 -14.9204635620117 1.0 3.1715
10:103445545:A:C rs7831 10 103445545 A C PDCD11 nonsynonymous SNV PDCD11:ENST00000369797.8:exon36:c.A5612C:p.D1871A,PDCD11:ENST00000649849.1:exon36:c.A5615C:p.D1872A -33.754181861877 -10.0424194335938 0.9955 0.8295
3:16286402:C:T rs6777976 3 16286402 C T OXNAD1 nonsynonymous SNV OXNAD1:ENST00000285083.10:exon5:c.C244T:p.R82C,OXNAD1:ENST00000435829.6:exon5:c.C298T:p.R100C,OXNAD1:ENST00000605932.5:exon5:c.C244T:p.R82C,OXNAD1:ENST00000606098.1:exon5:c.C244T:p.R82C,OXNAD1:ENST00000627468.2:exon5:c.C298T:p.R100C -33.7312517166138 -12.0521602630615 0.035 1.2515
11:71480771:C:T rs7121106 11 71480771 C T NADSYN1 nonsynonymous SNV NADSYN1:ENST00000319023.7:exon11:c.C890T:p.P297L -33.7003288269043 -1.55493164062682 0.5365 2.747
6:35781154:T:C rs34109614 6 35781154 T C CLPSL1 nonsynonymous SNV CLPSL1:ENST00000373861.6:exon1:c.T44C:p.F15S -33.6945800781268 14.454833984375 0.006 -0.169
1:40514996:T:C rs35672330 1 40514996 T C EXO5 nonsynonymous SNV EXO5:ENST00000372703.1:exon2:c.T452C:p.L151P,EXO5:ENST00000296380.9:exon3:c.T452C:p.L151P,EXO5:ENST00000358527.6:exon4:c.T452C:p.L151P,EXO5:ENST00000415550.6:exon4:c.T452C:p.L151P -33.6927447319031 -6.36221504211608 0.0065 0.2865
16:1367790:T:C rs113951440 16 1367790 T C UNKL nonsynonymous SNV UNKL:ENST00000248104.11:exon4:c.A142G:p.I48V,UNKL:ENST00000397464.5:exon4:c.A151G:p.I51V,UNKL:ENST00000674376.1:exon4:c.A151G:p.I51V,UNKL:ENST00000389221.9:exon13:c.A1654G:p.I552V,UNKL:ENST00000508903.7:exon13:c.A1654G:p.I552V 33.6776947975159 14.6270980834961 0.4535 0.166
1:11776625:C:T rs7538516 1 11776625 C T C1orf167 nonsynonymous SNV C1orf167:ENST00000433342.6:exon10:c.C1840T:p.R614C,C1orf167:ENST00000688073.1:exon10:c.C2326T:p.R776C -33.6678924560547 -2.65185546875 0.0265 -0.262
8:11852665:T:C rs1803250 8 11852665 T C CTSB nonsynonymous SNV CTSB:ENST00000676952.1:exon2:c.A157G:p.S53G,CTSB:ENST00000679121.1:exon2:c.A157G:p.S53G,CTSB:ENST00000353047.11:exon3:c.A157G:p.S53G,CTSB:ENST00000453527.7:exon3:c.A157G:p.S53G,CTSB:ENST00000526195.6:exon3:c.A157G:p.S53G,CTSB:ENST00000530640.7:exon3:c.A157G:p.S53G,CTSB:ENST00000533572.6:exon3:c.A157G:p.S53G,CTSB:ENST00000534149.6:exon3:c.A157G:p.S53G,CTSB:ENST00000534382.6:exon3:c.A157G:p.S53G,CTSB:ENST00000676502.1:exon3:c.A157G:p.S53G,CTSB:ENST00000676825.1:exon3:c.A157G:p.S53G,CTSB:ENST00000677047.1:exon3:c.A157G:p.S53G,CTSB:ENST00000677671.1:exon3:c.A157G:p.S53G,CTSB:ENST00000678067.1:exon3:c.A157G:p.S53G,CTSB:ENST00000678092.1:exon3:c.A157G:p.S53G,CTSB:ENST00000678145.1:exon3:c.A157G:p.S53G,CTSB:ENST00000678598.1:exon3:c.A157G:p.S53G,CTSB:ENST00000679128.1:exon3:c.A157G:p.S53G,CTSB:ENST00000345125.8:exon4:c.A157G:p.S53G,CTSB:ENST00000505496.7:exon4:c.A157G:p.S53G,CTSB:ENST00000524500.6:exon4:c.A157G:p.S53G,CTSB:ENST00000526645.6:exon4:c.A157G:p.S53G,CTSB:ENST00000527243.6:exon4:c.A157G:p.S53G,CTSB:ENST00000530296.6:exon4:c.A157G:p.S53G,CTSB:ENST00000531089.6:exon4:c.A157G:p.S53G,CTSB:ENST00000676755.1:exon4:c.A157G:p.S53G,CTSB:ENST00000677082.1:exon4:c.A157G:p.S53G,CTSB:ENST00000677366.1:exon4:c.A157G:p.S53G,CTSB:ENST00000677415.1:exon4:c.A157G:p.S53G,CTSB:ENST00000677418.1:exon4:c.A157G:p.S53G,CTSB:ENST00000678242.1:exon4:c.A157G:p.S53G,CTSB:ENST00000678615.1:exon4:c.A157G:p.S53G,CTSB:ENST00000678929.1:exon4:c.A157G:p.S53G,CTSB:ENST00000679051.1:exon4:c.A157G:p.S53G,CTSB:ENST00000527215.7:exon5:c.A157G:p.S53G,CTSB:ENST00000531502.6:exon5:c.A157G:p.S53G,CTSB:ENST00000532656.7:exon5:c.A157G:p.S53G,CTSB:ENST00000533455.6:exon5:c.A157G:p.S53G,CTSB:ENST00000534510.6:exon5:c.A157G:p.S53G,CTSB:ENST00000676691.1:exon5:c.A157G:p.S53G,CTSB:ENST00000676843.1:exon5:c.A157G:p.S53G,CTSB:ENST00000677544.1:exon5:c.A157G:p.S53G,CTSB:ENST00000677650.1:exon5:c.A157G:p.S53G,CTSB:ENST00000677819.1:exon5:c.A157G:p.S53G,CTSB:ENST00000677873.1:exon5:c.A157G:p.S53G,CTSB:ENST00000678357.1:exon5:c.A157G:p.S53G,CTSB:ENST00000679140.1:… -33.6427531242371 -5.17007064819336 1.0 2.468
19:12043984:G:C rs67102109 19 12043984 G C ZNF878 nonsynonymous SNV ZNF878:ENST00000547628.2:exon4:c.C1417G:p.H473D 33.6175270080585 8.01036834717161 0.5 1.579
3:114236340:A:C rs3732781 3 114236340 A C ZNF80 stopgain ZNF80:ENST00000482457.4:exon1:c.T735G:p.Y245X 33.5941009521484 11.5881652832049 0.0 -1.1525
2:202982094:A:T rs72932557 2 202982094 A T CARF nonsynonymous SNV CARF:ENST00000414439.5:exon13:c.A1406T:p.Y469F,CARF:ENST00000428585.5:exon14:c.A1484T:p.Y495F,CARF:ENST00000320443.12:exon15:c.A1484T:p.Y495F,CARF:ENST00000402905.7:exon15:c.A1712T:p.Y571F,CARF:ENST00000438828.4:exon16:c.A1712T:p.Y571F 33.5900440216064 -0.52978515625 0.792 0.6425
10:125026145:G:C rs2946994 10 125026145 G C CTBP2 nonsynonymous SNV CTBP2:ENST00000309035.11:exon1:c.C1615G:p.Q539E -33.5848133563995 -16.4862117767334 1.0 5.3475
21:46297579:G:T rs61736728 21 46297579 G T YBEY nonsynonymous SNV YBEY:ENST00000339195.10:exon4:c.G320T:p.R107L,YBEY:ENST00000397692.5:exon4:c.G185T:p.R62L,YBEY:ENST00000329319.7:exon5:c.G449T:p.R150L,YBEY:ENST00000397691.1:exon5:c.G449T:p.R150L,YBEY:ENST00000397694.5:exon5:c.G314T:p.R105L,YBEY:ENST00000397701.9:exon5:c.G449T:p.R150L -33.5735940933228 -1.53659057617006 0.0 -0.3775
11:73909492:C:G rs3741138 11 73909492 C G PAAF1 nonsynonymous SNV PAAF1:ENST00000544909.5:exon5:c.C629G:p.A210G,PAAF1:ENST00000376384.9:exon6:c.C575G:p.A192G,PAAF1:ENST00000310571.8:exon7:c.C626G:p.A209G,PAAF1:ENST00000535604.5:exon7:c.C281G:p.A94G,PAAF1:ENST00000541951.5:exon7:c.C281G:p.A94G,PAAF1:ENST00000536003.5:exon8:c.C575G:p.A192G,PAAF1:ENST00000544552.5:exon8:c.C575G:p.A192G -33.5450010299664 1.39013671875364 1.0 1.7305
4:86887872:T:C rs28664715 4 86887872 T C C4orf36 nonsynonymous SNV C4orf36:ENST00000295898.8:exon4:c.A242G:p.Y81C,C4orf36:ENST00000473559.5:exon7:c.A242G:p.Y81C -33.5086212158203 -15.5965576171875 0.4795 0.619
14:23563818:G:A rs12897422 14 23563818 G A AP1G2 nonsynonymous SNV AP1G2:ENST00000308724.9:exon11:c.C1130T:p.S377F,AP1G2:ENST00000397120.8:exon12:c.C1130T:p.S377F -33.4821293354034 -24.6607685089111 1.0 3.9125
19:54783763:A:G rs2756923 19 54783763 A G KIR2DL1 nonsynonymous SNV KIR2DL1:ENST00000336077.11:exon8:c.A997G:p.T333A,KIR2DL1:ENST00000291633.7:exon9:c.A1075G:p.T359A -33.4767456054688 -4.1739501953125 0.0 -2.0365
12:92737427:A:C rs2036553 12 92737427 A C PLEKHG7 nonsynonymous SNV PLEKHG7:ENST00000344636.6:exon7:c.A845C:p.D282A -33.4164018630981 -3.44877624511901 0.059 1.3195
5:178695364:C:T rs1967384 5 178695364 C T MSANTD5 nonsynonymous SNV MSANTD5:ENST00000648368.2:exon3:c.G326A:p.C109Y -33.4096555709839 -1.4420166015625 0.0 -0.892
8:23200707:T:G rs20576 8 23200707 T G TNFRSF10A nonsynonymous SNV TNFRSF10A:ENST00000613472.1:exon4:c.A209C:p.E70A,TNFRSF10A:ENST00000221132.8:exon5:c.A683C:p.E228A -33.3903408050537 -3.69450378417969 0.0105 0.294
5:745256:C:G rs62332112 5 745256 C G ZDHHC11B nonsynonymous SNV ZDHHC11B:ENST00000508859.8:exon9:c.G827C:p.R276P -33.3332214355469 1.800048828125 0.0005 -0.308
9:95876024:C:T rs56108623 9 95876024 C T ERCC6L2 nonsynonymous SNV ERCC6L2:ENST00000715566.1:exon1:c.C19T:p.P7S -33.3301486968999 -0.53424072265625 0.078 0.591
18:334742:C:T rs2305027 18 334742 C T COLEC12 nonsynonymous SNV COLEC12:ENST00000400256.5:exon6:c.G1816A:p.G606S 33.3283040523529 -3.68933486938658 0.5415 1.589
9:113323143:G:A rs10817479 9 113323143 G A WDR31 nonsynonymous SNV WDR31:ENST00000341761.8:exon6:c.C334T:p.P112S,WDR31:ENST00000374193.9:exon6:c.C337T:p.P113S -33.3084692955017 -0.272077560422986 0.0015 0.7355
1:151529951:C:T rs34834099 1 151529951 C T CGN nonsynonymous SNV CGN:ENST00000271636.12:exon12:c.C2149T:p.R717W -33.1822052001953 -26.9467926025391 0.9265 1.5885
1:214641390:T:G rs3795519 1 214641390 T G CENPF nonsynonymous SNV CENPF:ENST00000366955.8:exon12:c.T3052G:p.Y1018D,CENPF:ENST00000706765.1:exon12:c.T3052G:p.Y1018D -33.1782894134521 -43.7383041381836 0.014 1.3345
19:8334965:C:A rs890850 19 8334965 C A KANK3 nonsynonymous SNV KANK3:ENST00000330915.7:exon3:c.G862T:p.D288Y,KANK3:ENST00000593649.5:exon3:c.G862T:p.D288Y -33.1700549125671 -12.1647510528564 0.0035 0.3045
15:57439375:C:T rs7182648 15 57439375 C T CGNL1 nonsynonymous SNV CGNL1:ENST00000281282.6:exon2:c.C1376T:p.S459F 33.145667552948 -6.66315078735352 0.0 0.485
19:12075946:A:G rs7259845 19 12075946 A G ENSG00000286098;ENSG00000286132;ZNF844 nonsynonymous SNV ZNF844:ENST00000439326.8:exon4:c.A826G:p.T276A,ENSG00000286098:ENST00000652448.1:exon5:c.A730G:p.T244A 33.1288757324219 11.99951171875 0.3895 1.942
13:72775941:T:C rs4883918 13 72775941 T C DIS3 nonsynonymous SNV DIS3:ENST00000377767.9:exon5:c.A806G:p.N269S,DIS3:ENST00000377780.8:exon5:c.A716G:p.N239S,DIS3:ENST00000545453.5:exon6:c.A320G:p.N107S 33.0842914581299 17.1183853149414 0.0 0.433
15:65077057:C:T rs2919358 15 65077057 C T KBTBD13 nonsynonymous SNV KBTBD13:ENST00000432196.5:exon1:c.C242T:p.A81V -33.0541517734528 -7.5966110229474 0.5 2.098
16:69424876:G:A rs1619397 16 69424876 G A CYB5B nonsynonymous SNV CYB5B:ENST00000568237.2:exon1:c.G193A:p.E65K 33.0281639099121 12.271240234375 0.034 0.0815
15:41828144:A:G rs151053095 15 41828144 A G JMJD7;JMJD7-PLA2G4B nonsynonymous SNV JMJD7-PLA2G4B:ENST00000342159.6:exon1:c.A20G:p.E7G,JMJD7-PLA2G4B:ENST00000382448.8:exon1:c.A20G:p.E7G,JMJD7:ENST00000397299.9:exon1:c.A20G:p.E7G -33.0253925323486 0.061767578123181 0.47 -0.003
17:40771762:A:G rs9898164 17 40771762 A G KRT26 nonsynonymous SNV KRT26:ENST00000335552.5:exon1:c.T352C:p.W118R -33.0146951675424 -6.7587890625 0.5 3.446
19:53353096:A:T rs55874600 19 53353096 A T ZNF845 nonsynonymous SNV ZNF845:ENST00000458035.3:exon4:c.A2421T:p.E807D,ZNF845:ENST00000595091.6:exon5:c.A2421T:p.E807D 32.9847507476807 12.4049606323224 0.413 -2.509
16:1868124:T:G rs1742446 16 1868124 T G MEIOB nonsynonymous SNV MEIOB:ENST00000325962.9:exon2:c.A52C:p.T18P,MEIOB:ENST00000397344.7:exon2:c.A52C:p.T18P -32.9800720214844 -2.552734375 0.99 2.114
14:56633141:G:A rs1041316 14 56633141 G A TMEM260 nonsynonymous SNV TMEM260:ENST00000261556.11:exon13:c.G1694A:p.S565N 32.9671945571899 4.22509765625 0.1055 0.4685
10:113650475:T:C rs2185913 10 113650475 T C NRAP nonsynonymous SNV NRAP:ENST00000359988.4:exon8:c.A746G:p.Y249C,NRAP:ENST00000360478.7:exon8:c.A746G:p.Y249C,NRAP:ENST00000369358.8:exon8:c.A746G:p.Y249C,NRAP:ENST00000369360.7:exon8:c.A746G:p.Y249C -32.9438104629517 -13.5157985687256 1.0 8.066
16:3597691:A:C rs74319927 16 3597691 A C SLX4 nonsynonymous SNV SLX4:ENST00000294008.4:exon7:c.T1371G:p.N457K 32.9335107803345 7.33608627319336 0.9995 1.506
14:23034812:G:A rs11543947 14 23034812 G A PSMB5 nonsynonymous SNV PSMB5:ENST00000361611.11:exon1:c.C70T:p.R24C,PSMB5:ENST00000460922.2:exon1:c.C70T:p.R24C,PSMB5:ENST00000493471.2:exon1:c.C70T:p.R24C -32.9317283630371 -13.4501342773438 1.0 1.1615
4:183271125:G:T rs11734376 4 183271125 G T WWC2 nonsynonymous SNV WWC2:ENST00000504005.5:exon9:c.G1492T:p.V498F,WWC2:ENST00000403733.8:exon16:c.G2446T:p.V816F,WWC2:ENST00000448232.6:exon16:c.G2446T:p.V816F,WWC2:ENST00000513834.5:exon16:c.G2299T:p.V767F 32.9216384887732 -0.9775390625 0.2875 0.655
19:372661:C:A rs2303810 19 372661 C A SPMAP2 nonsynonymous SNV SPMAP2:ENST00000346878.3:exon4:c.G533T:p.R178I,SPMAP2:ENST00000342640.9:exon5:c.G605T:p.R202I -32.9148216247559 -22.1517219543457 0.842 1.076
1:207694509:G:A rs41303261 1 207694509 G A CR1L nonsynonymous SNV CR1L:ENST00000508064.7:exon5:c.G620A:p.C207Y -32.8974452018738 -44.8845233917218 0.9955 2.28
1:151401549:T:C rs4603 1 151401549 T C PSMB4 nonsynonymous SNV PSMB4:ENST00000290541.7:exon6:c.T701C:p.I234T -32.8890776634216 -15.6276741027832 0.5 -0.1645
5:141201647:C:A rs799833 5 141201647 C A PCDHB11 nonsynonymous SNV PCDHB11:ENST00000354757.5:exon1:c.C1873A:p.R625S,PCDHB11:ENST00000624887.1:exon2:c.C778A:p.R260S -32.873378276825 -6.99930000305176 0.0205 1.1025
22:30495307:G:C rs9606739 22 30495307 G C SEC14L4 nonsynonymous SNV SEC14L4:ENST00000255858.12:exon5:c.C370G:p.R124G,SEC14L4:ENST00000381982.3:exon5:c.C370G:p.R124G -32.8310928344727 -26.3327674865723 0.998 1.9655
11:119112724:C:T rs2239896 11 119112724 C T C2CD2L nonsynonymous SNV C2CD2L:ENST00000336702.7:exon10:c.C1237T:p.R413W,C2CD2L:ENST00000648610.2:exon10:c.C1237T:p.R413W -32.805412530899 -21.3144435882568 0.9835 0.7125
5:79733465:C:A rs1428223 5 79733465 C A CMYA5 nonsynonymous SNV CMYA5:ENST00000446378.3:exon2:c.C4700A:p.A1567E 32.7955322265625 14.0921630859375 0.001 0.293
1:37723115:A:G rs17511304 1 37723115 A G EPHA10 nonsynonymous SNV EPHA10:ENST00000540011.2:exon6:c.T371C:p.L124P,EPHA10:ENST00000373048.9:exon10:c.T1886C:p.L629P,EPHA10:ENST00000427468.6:exon10:c.T1886C:p.L629P 32.7836103439331 7.43475341796875 1.0 6.147
10:128115696:A:T rs7095325 10 128115696 A T MKI67 nonsynonymous SNV MKI67:ENST00000368654.8:exon7:c.T712A:p.W238R -32.7736663818359 -0.708984375 0.7475 -0.0365
6:31410558:G:C rs9380254 6 31410558 G C MICA nonsynonymous SNV MICA:ENST00000449934.7:exon2:c.G86C:p.R29P -32.7609558105469 -11.4616394042969 0.0 -2.1295
6:25604863:G:A rs1012899 6 25604863 G A CARMIL1 nonsynonymous SNV CARMIL1:ENST00000329474.7:exon34:c.G3604A:p.G1202S,CARMIL1:ENST00000700669.1:exon34:c.G3604A:p.G1202S -32.7159805297852 2.28759765625 0.4775 0.782
10:113610515:T:C rs10749138 10 113610515 T C NRAP nonsynonymous SNV NRAP:ENST00000360478.7:exon30:c.A3442G:p.I1148V,NRAP:ENST00000369360.7:exon30:c.A3466G:p.I1156V,NRAP:ENST00000359988.4:exon31:c.A3547G:p.I1183V,NRAP:ENST00000369358.8:exon31:c.A3547G:p.I1183V 32.6904296875 -2.798828125 0.997 0.6705
11:47835701:T:C rs3816605 11 47835701 T C NUP160 nonsynonymous SNV NUP160:ENST00000378460.7:exon7:c.A949G:p.T317A,NUP160:ENST00000528071.5:exon7:c.A949G:p.T317A,NUP160:ENST00000694866.1:exon7:c.A1051G:p.T351A 32.6835155487061 -1.46964263916016 0.9795 0.5775
16:72008783:A:C rs3213422 16 72008783 A C DHODH nonsynonymous SNV DHODH:ENST00000219240.9:exon1:c.A19C:p.K7Q,DHODH:ENST00000572887.5:exon1:c.A19C:p.K7Q -32.6027011871338 -7.220703125 0.8975 0.9825
1:1071842:G:T rs71628928 1 1071842 G T RNF223 nonsynonymous SNV RNF223:ENST00000453464.3:exon2:c.C725A:p.P242H 32.5724749565125 -1.43496322631836 0.598 1.718
19:23744114:T:C rs1852432 19 23744114 T C ZNF681 nonsynonymous SNV ZNF681:ENST00000402377.3:exon4:c.A1436G:p.K479R 32.5713195800781 9.40130615234375 0.0 -2.1185
19:52583345:G:A rs3745102 19 52583345 G A ZNF701 nonsynonymous SNV ZNF701:ENST00000391785.8:exon4:c.G1286A:p.R429H,ZNF701:ENST00000301093.6:exon5:c.G1484A:p.R495H,ZNF701:ENST00000540331.1:exon5:c.G1484A:p.R495H -32.5623626708984 -0.830337524414062 0.0 -1.1565
16:20954951:G:A rs12924551 16 20954951 G A DNAH3 nonsynonymous SNV DNAH3:ENST00000261383.3:exon55:c.C10933T:p.R3645C,DNAH3:ENST00000685858.1:exon55:c.C10975T:p.R3659C,DNAH3:ENST00000698260.1:exon55:c.C10795T:p.R3599C -32.5572333335876 -2.3740234375 0.708 3.911
15:85579548:T:C rs2061822 15 85579548 T C AKAP13 nonsynonymous SNV AKAP13:ENST00000361243.6:exon7:c.T1480C:p.W494R,AKAP13:ENST00000394518.7:exon7:c.T1480C:p.W494R 32.5481643676758 1.92442321777344 0.0 -0.3055
8:10610662:G:A rs4840502 8 10610662 G A RP1L1 nonsynonymous SNV RP1L1:ENST00000382483.4:exon4:c.C3436T:p.R1146W -32.5473985671997 -32.9970893859863 0.085 0.4635
17:75589915:T:C rs80017587 17 75589915 T C MYO15B nonsynonymous SNV MYO15B:ENST00000645453.3:exon1:c.T1858C:p.S620P -32.5228757858276 -7.37563896179199 0.0 -0.402
2:24302089:C:T rs7603997 2 24302089 C T ITSN2 nonsynonymous SNV ITSN2:ENST00000355123.9:exon10:c.G871A:p.V291I,ITSN2:ENST00000361999.7:exon10:c.G871A:p.V291I,ITSN2:ENST00000406921.7:exon10:c.G871A:p.V291I 32.515137195589 2.33212280273438 0.9925 0.5575
15:101178722:G:A rs3743193 15 101178722 G A CHSY1 nonsynonymous SNV CHSY1:ENST00000254190.4:exon3:c.C1075T:p.P359S 32.5121295452118 5.89800262451172 0.5705 1.1205
15:69035886:C:T rs12907196 15 69035886 C T NOX5 nonsynonymous SNV NOX5:ENST00000388866.8:exon7:c.C1138T:p.L380F,NOX5:ENST00000530406.7:exon7:c.C1054T:p.L352F,NOX5:ENST00000703585.1:exon7:c.C1033T:p.L345F,NOX5:ENST00000260364.9:exon8:c.C1084T:p.L362F,NOX5:ENST00000448182.7:exon8:c.C1000T:p.L334F 32.4837436676025 21.6755218505859 0.573 2.3335
9:85095160:A:G rs4468013 9 85095160 A G NTRK2 nonsynonymous SNV NTRK2:ENST00000687386.1:exon17:c.A2294G:p.K765R 32.4423828125 6.517578125 0.0075 -0.9025
19:1475392:A:C rs166451 19 1475392 A C C19orf25 nonsynonymous SNV C19orf25:ENST00000588849.1:exon2:c.T253G:p.S85A,C19orf25:ENST00000651077.1:exon3:c.T253G:p.S85A -32.4212970733643 -3.02824401855469 0.0005 -0.4255
19:23359488:A:G rs428549 19 23359488 A G ZNF91 nonsynonymous SNV ZNF91:ENST00000397082.2:exon3:c.T3395C:p.L1132P,ZNF91:ENST00000300619.12:exon4:c.T3491C:p.L1164P 32.4155578613281 13.863189697262 0.0135 -0.9885
7:100562641:T:C rs17855473 7 100562641 T C AGFG2 nonsynonymous SNV AGFG2:ENST00000300176.9:exon8:c.T1046C:p.M349T 32.4143543243408 20.3026504516602 0.0005 -0.534
13:44989329:G:C rs1140993 13 44989329 G C NUFIP1 nonsynonymous SNV NUFIP1:ENST00000379161.5:exon1:c.C108G:p.S36R -32.4004192352295 -9.47830390930176 0.001 -0.1775
13:29324631:A:C rs928661 13 29324631 A C MTUS2 nonsynonymous SNV MTUS2:ENST00000612955.6:exon7:c.A2825C:p.Q942P -32.3794231414795 -0.909149169920056 0.444 0.497
12:7715251:G:C rs2024320 12 7715251 G C DPPA3 nonsynonymous SNV DPPA3:ENST00000345088.3:exon2:c.G151C:p.E51Q -32.3627929687518 1.7939453125 0.0 -1.665
19:57248650:G:A rs2014572 19 57248650 G A ZNF805 nonsynonymous SNV ZNF805:ENST00000414468.3:exon3:c.G203A:p.G68E -32.3352699279785 -8.38872146606445 0.0 0.2965
22:43554973:T:G rs34955597 22 43554973 T G EFCAB6 nonsynonymous SNV EFCAB6:ENST00000396231.6:exon25:c.A3088C:p.T1030P,EFCAB6:ENST00000262726.12:exon27:c.A3544C:p.T1182P 32.3068561553955 10.2593231201172 0.232 -0.0785
18:62360008:C:T rs1805034 18 62360008 C T TNFRSF11A nonsynonymous SNV TNFRSF11A:ENST00000269485.11:exon6:c.C575T:p.A192V,TNFRSF11A:ENST00000586569.3:exon6:c.C575T:p.A192V 32.2769088745117 -4.99609375 0.998 0.3785
5:113488342:T:C rs348942 5 113488342 T C MCC nonsynonymous SNV MCC:ENST00000408903.7:exon1:c.A73G:p.S25G 32.260213375092 12.0937652587891 0.9965 0.4615
11:4594889:T:C rs61997192 11 4594889 T C OR52I1 nonsynonymous SNV OR52I1:ENST00000530443.4:exon1:c.T851C:p.L284P -32.2156505584717 -28.0322513580322 0.176 1.0395
1:15583355:C:G rs6429757 1 15583355 C G AGMAT nonsynonymous SNV AGMAT:ENST00000375826.4:exon2:c.G313C:p.G105R 32.2112436294556 1.2611083984375 0.9985 0.87
6:105328991:A:C rs12192054 6 105328991 A C PREP nonsynonymous SNV PREP:ENST00000652536.2:exon9:c.T1051G:p.L351V,PREP:ENST00000369110.8:exon11:c.T853G:p.L285V -32.2092580795288 -2.63110351562318 0.2695 0.3775
8:40015534:G:A rs72632016 8 40015534 G A IDO2 nonsynonymous SNV IDO2:ENST00000502986.4:exon11:c.G1156A:p.A386T -32.2031335830688 2.33777618408203 0.0 0.0205
1:183563445:G:T rs17849502 1 183563445 G T NCF2 nonsynonymous SNV NCF2:ENST00000418089.5:exon10:c.C924A:p.H308Q,NCF2:ENST00000413720.5:exon11:c.C1032A:p.H344Q,NCF2:ENST00000697351.1:exon11:c.C1059A:p.H353Q,NCF2:ENST00000367535.8:exon12:c.C1167A:p.H389Q,NCF2:ENST00000367536.5:exon13:c.C1167A:p.H389Q,NCF2:ENST00000697330.1:exon13:c.C1167A:p.H389Q -32.1849374771118 -8.37812805175781 1.0 3.249
15:31070149:C:T rs2241493 15 31070149 C T TRPM1 nonsynonymous SNV TRPM1:ENST00000397795.7:exon3:c.G95A:p.S32N,TRPM1:ENST00000558445.6:exon3:c.G212A:p.S71N,TRPM1:ENST00000559179.2:exon3:c.G95A:p.S32N,TRPM1:ENST00000711434.1:exon3:c.G95A:p.S32N,TRPM1:ENST00000256552.11:exon4:c.G161A:p.S54N 32.177604675293 11.3570861816406 0.0 -0.117
8:64580975:T:A rs62519835 8 64580975 T A BHLHE22 nonsynonymous SNV BHLHE22:ENST00000321870.3:exon1:c.T185A:p.L62Q -32.147629737854 -13.6212196350098 0.0435 0.722
3:31990123:A:C rs13064905 3 31990123 A C ZNF860 nonsynonymous SNV ZNF860:ENST00000360311.5:exon2:c.A1044C:p.E348D 32.1242446899414 7.43282318115234 0.79 0.5645
17:27643616:A:T rs361498 17 27643616 A T LGALS9 nonsynonymous SNV LGALS9:ENST00000395473.7:exon5:c.A536T:p.Q179L -32.1230735778809 0.18115234375 0.0 -2.292
12:53078145:T:C rs7302636 12 53078145 T C SPRYD3 nonsynonymous SNV SPRYD3:ENST00000547837.5:exon2:c.A50G:p.N17S 32.1225359439859 8.04560089111146 0.002 -0.402
3:150674023:A:C rs73003074 3 150674023 A C ERICH6 nonsynonymous SNV ERICH6:ENST00000295910.11:exon11:c.T1276G:p.L426V,ERICH6:ENST00000491361.5:exon11:c.T838G:p.L280V 32.1076583862323 -5.732421875 0.188 -0.232
15:89716914:T:A rs7163367 15 89716914 T A WDR93 nonsynonymous SNV WDR93:ENST00000268130.12:exon7:c.T760A:p.S254T,WDR93:ENST00000560294.5:exon7:c.T760A:p.S254T 32.086181640625 -5.89697265624636 0.0 -0.262
19:15807992:C:G rs4808383 19 15807992 C G OR10H1 nonsynonymous SNV OR10H1:ENST00000334920.3:exon1:c.G46C:p.G16R,OR10H1:ENST00000641419.1:exon4:c.G46C:p.G16R -32.0848093032837 -13.9509410858154 0.4565 -1.974
16:81179773:A:G rs4889261 16 81179773 A G PKD1L2 nonsynonymous SNV PKD1L2:ENST00000527937.1:exon2:c.T77C:p.L26P,PKD1L2:ENST00000531391.5:exon2:c.T77C:p.L26P 32.0791015625 -1.19189453125 0.9995 3.746
1:1968747:T:C rs35269416 1 1968747 T C CFAP74 nonsynonymous SNV CFAP74:ENST00000493964.5:exon11:c.A1133G:p.K378R,CFAP74:ENST00000682832.2:exon11:c.A1133G:p.K378R 32.078369140625 11.6012878417987 0.0 -0.1955
13:24793144:A:C rs1451568 13 24793144 A C RNF17 nonsynonymous SNV RNF17:ENST00000255324.10:exon10:c.A1038C:p.K346N,RNF17:ENST00000255325.6:exon10:c.A1038C:p.K346N 32.0682830810547 16.822265625 0.4695 1.8265
17:45983912:C:T rs17651549 17 45983912 C T MAPT nonsynonymous SNV MAPT:ENST00000262410.10:exon5:c.C1333T:p.R445W,MAPT:ENST00000344290.10:exon5:c.C1333T:p.R445W,MAPT:ENST00000415613.6:exon5:c.C1108T:p.R370W,MAPT:ENST00000571987.5:exon5:c.C1108T:p.R370W -32.0657997131348 -18.8651084899902 1.0 4.201
19:52379480:T:C rs10445583 19 52379480 T C ZNF880 nonsynonymous SNV ZNF880:ENST00000424032.6:exon4:c.T328C:p.S110P,ZNF880:ENST00000600321.5:exon4:c.T328C:p.S110P 32.0595703125 11.787109375 0.001 -1.756
14:88385822:G:A rs4904448 14 88385822 G A SPATA7 nonsynonymous SNV SPATA7:ENST00000045347.11:exon1:c.G4A:p.D2N,SPATA7:ENST00000356583.9:exon1:c.G4A:p.D2N,SPATA7:ENST00000393545.9:exon1:c.G4A:p.D2N,SPATA7:ENST00000556553.5:exon2:c.G4A:p.D2N -32.0512008666992 -4.50688934326172 0.986 1.1715
2:178104312:G:A rs75672043 2 178104312 G A PDE11A nonsynonymous SNV PDE11A:ENST00000358450.8:exon2:c.C152T:p.T51I 32.0486221313477 6.84387207031068 1.0 3.7375
14:74921480:C:T rs7156590 14 74921480 C T RPS6KL1 nonsynonymous SNV RPS6KL1:ENST00000354625.6:exon2:c.G62A:p.R21Q,RPS6KL1:ENST00000555647.5:exon3:c.G62A:p.R21Q,RPS6KL1:ENST00000557413.6:exon3:c.G62A:p.R21Q -32.0334589481354 0.696281433105469 0.0475 1.487
10:113633160:T:A rs2270182 10 113633160 T A NRAP nonsynonymous SNV NRAP:ENST00000360478.7:exon15:c.A1451T:p.N484I,NRAP:ENST00000369360.7:exon15:c.A1451T:p.N484I,NRAP:ENST00000359988.4:exon16:c.A1556T:p.N519I,NRAP:ENST00000369358.8:exon16:c.A1556T:p.N519I -32.0228309631348 -5.11992645263672 1.0 3.3915
8:103404817:C:T rs17803441 8 103404817 C T ENSG00000285982;SLC25A32 nonsynonymous SNV SLC25A32:ENST00000297578.9:exon3:c.G350A:p.R117H,SLC25A32:ENST00000707124.1:exon3:c.G419A:p.R140H,ENSG00000285982:ENST00000649416.1:exon5:c.G197A:p.R66H -32.0196189880353 -2.46484375 0.4945 1.236
7:259897:C:T rs62644536 7 259897 C T FAM20C nonsynonymous SNV FAM20C:ENST00000313766.6:exon10:c.C1672T:p.R558W -32.0132613182068 -13.8511562347412 0.993 1.863
14:45226834:T:G rs34101857 14 45226834 T G MIS18BP1 nonsynonymous SNV MIS18BP1:ENST00000310806.9:exon10:c.A1749C:p.E583D 32.0115966796875 8.33203125 0.998 1.5455
17:17793441:C:A rs11649804 17 17793441 C A RAI1 nonsynonymous SNV RAI1:ENST00000353383.6:exon3:c.C493A:p.P165T -32.0010676383972 -21.0659580230713 0.874 1.076
5:151259878:A:G rs153478 5 151259878 A G GM2A nonsynonymous SNV GM2A:ENST00000357164.4:exon2:c.A205G:p.M69V -31.999116897583 1.49700164795104 0.0 0.9225
19:20806162:T:C rs383038 19 20806162 T C ZNF66 nonsynonymous SNV ZNF66:ENST00000344519.10:exon4:c.T562C:p.F188L 31.9960021972693 -2.649658203125 0.0 -0.413
6:4031764:A:G rs9503893 6 4031764 A G PRPF4B nonsynonymous SNV PRPF4B:ENST00000337659.11:exon2:c.A247G:p.I83V 31.9829757213593 12.0198211669922 0.3075 0.8
16:76498686:A:G rs12933808 16 76498686 A G CNTNAP4;ENSG00000287694 nonsynonymous SNV CNTNAP4:ENST00000377504.8:exon14:c.A2213G:p.Q738R,CNTNAP4:ENST00000476707.1:exon14:c.A2366G:p.Q789R,CNTNAP4:ENST00000478060.5:exon14:c.A2138G:p.Q713R,CNTNAP4:ENST00000622250.4:exon14:c.A2213G:p.Q738R,CNTNAP4:ENST00000307431.12:exon15:c.A2357G:p.Q786R,CNTNAP4:ENST00000611870.5:exon15:c.A2357G:p.Q786R,ENSG00000287694:ENST00000655556.1:exon15:c.A2357G:p.Q786R 31.9774355888367 -1.619140625 0.0 -0.1115
19:45409148:G:A rs2336219 19 45409148 G A POLR1G nonsynonymous SNV POLR1G:ENST00000309424.8:exon3:c.G1180A:p.D394N,POLR1G:ENST00000589804.1:exon3:c.G1186A:p.D396N 31.976263999939 12.8451232910138 0.0 -0.5755
13:49668560:C:T rs7999786 13 49668560 C T EBPL nonsynonymous SNV EBPL:ENST00000378268.1:exon3:c.G251A:p.R84H 31.8967285156232 8.074462890625 0.0015 -0.954
6:151573205:C:T rs12205837 6 151573205 C T CCDC170 nonsynonymous SNV CCDC170:ENST00000239374.8:exon6:c.C806T:p.A269V 31.8846168518066 -18.3380889892578 0.754 0.5025
17:80205094:C:T rs11652075 17 80205094 C T CARD14 nonsynonymous SNV CARD14:ENST00000344227.6:exon18:c.C2458T:p.R820W,CARD14:ENST00000571427.2:exon20:c.C2458T:p.R820W,CARD14:ENST00000573882.5:exon20:c.C2458T:p.R820W,CARD14:ENST00000651672.1:exon20:c.C2485T:p.R829W,CARD14:ENST00000648509.2:exon21:c.C2458T:p.R820W -31.8735823631287 -26.4407024383545 0.6045 1.6365
10:46298041:C:G rs61845226 10 46298041 C G ANTXRL nonsynonymous SNV ANTXRL:ENST00000620264.5:exon9:c.C775G:p.P259A -31.8689827919006 -6.89492797851562 0.0 -0.1035
6:29101522:C:T rs2394517 6 29101522 C T OR2J1 stopgain OR2J1:ENST00000377171.3:exon1:c.C580T:p.Q194X,OR2J1:ENST00000641659.2:exon2:c.C580T:p.Q194X 31.8620567321777 2.51021766662598 0.0 -3.378
17:68452981:G:A rs883541 17 68452981 G A WIPI1 nonsynonymous SNV WIPI1:ENST00000262139.10:exon2:c.C92T:p.T31I -31.8489093780518 -2.77587890625 0.996 4.464
8:9003110:T:C rs2288672 8 9003110 T C ERI1 nonsynonymous SNV ERI1:ENST00000250263.8:exon1:c.T47C:p.L16P,ERI1:ENST00000519292.5:exon1:c.T47C:p.L16P 31.8476848602295 3.49508666992188 0.164 0.184
8:73069926:A:G rs2291219 8 73069926 A G SBSPON nonsynonymous SNV SBSPON:ENST00000297354.7:exon4:c.T556C:p.W186R 31.8464369773865 29.2234439849835 0.9885 1.5555
18:50932292:G:A rs649224 18 50932292 G A ME2 nonsynonymous SNV ME2:ENST00000639255.1:exon12:c.G1187A:p.G396E,ME2:ENST00000639850.1:exon12:c.G1235A:p.G412E,ME2:ENST00000640965.1:exon12:c.G1238A:p.G413E,ME2:ENST00000321341.11:exon13:c.G1349A:p.G450E,ME2:ENST00000382927.3:exon13:c.G1349A:p.G450E,ME2:ENST00000638410.1:exon13:c.G1349A:p.G450E,ME2:ENST00000638937.1:exon13:c.G1349A:p.G450E -31.8313431739825 1.3203125 0.5085 0.316
6:64591611:A:G rs624851 6 64591611 A G EYS nonsynonymous SNV EYS:ENST00000370621.7:exon26:c.T4256C:p.L1419S,EYS:ENST00000503581.6:exon26:c.T4256C:p.L1419S 31.8289489746094 1.025390625 0.7745 2.5225
11:55968173:C:A rs61896167 11 55968173 C A OR10AG1 nonsynonymous SNV OR10AG1:ENST00000312345.4:exon1:c.G291T:p.M97I,OR10AG1:ENST00000641071.2:exon2:c.G351T:p.M117I 31.8255195617676 15.9236297607422 0.0 -0.8265
1:36420516:C:T rs2275477 1 36420516 C T OSCP1 nonsynonymous SNV OSCP1:ENST00000235532.9:exon8:c.G919A:p.G307R,OSCP1:ENST00000433045.6:exon8:c.G784A:p.G262R,OSCP1:ENST00000356637.9:exon9:c.G949A:p.G317R -31.8016633987427 -4.50955200195312 0.522 1.442
19:43614036:A:C rs3815422 19 43614036 A C SRRM5 nonsynonymous SNV SRRM5:ENST00000417606.3:exon1:c.A1915C:p.S639R,SRRM5:ENST00000607544.1:exon3:c.A1915C:p.S639R -31.7957043647766 -3.9486141204834 0.0 0.661
17:40981135:C:T rs2010027 17 40981135 C T KRT40 nonsynonymous SNV KRT40:ENST00000377755.9:exon4:c.G704A:p.R235H,KRT40:ENST00000398486.2:exon6:c.G704A:p.R235H,KRT40:ENST00000684280.1:exon6:c.G704A:p.R235H -31.7924423217773 -1.77845764160156 0.0 -0.366
18:10759842:C:A rs35033671 18 10759842 C A PIEZO2 nonsynonymous SNV PIEZO2:ENST00000302079.10:exon23:c.G3443T:p.C1148F,PIEZO2:ENST00000503781.7:exon23:c.G3443T:p.C1148F,PIEZO2:ENST00000580640.5:exon25:c.G3518T:p.C1173F,PIEZO2:ENST00000674853.1:exon25:c.G3518T:p.C1173F -31.7680048942566 -14.7760925292951 1.0 4.2075
6:24596250:T:G rs4576240 6 24596250 T G KIAA0319 nonsynonymous SNV KIAA0319:ENST00000430948.6:exon2:c.A289C:p.T97P,KIAA0319:ENST00000378214.8:exon3:c.A424C:p.T142P,KIAA0319:ENST00000537886.5:exon3:c.A424C:p.T142P,KIAA0319:ENST00000535378.5:exon4:c.A397C:p.T133P 31.7594938278198 20.3988990783691 0.876 0.373
1:161212418:C:G rs11576415 1 161212418 C G NDUFS2 nonsynonymous SNV NDUFS2:ENST00000678783.1:exon9:c.C979G:p.P327A,NDUFS2:ENST00000392179.5:exon10:c.C1054G:p.P352A,NDUFS2:ENST00000676972.1:exon10:c.C1054G:p.P352A,NDUFS2:ENST00000677231.1:exon10:c.C976G:p.P326A,NDUFS2:ENST00000677453.1:exon10:c.C1054G:p.P352A,NDUFS2:ENST00000678911.1:exon10:c.C976G:p.P326A,NDUFS2:ENST00000367993.7:exon11:c.C1054G:p.P352A,NDUFS2:ENST00000676600.1:exon11:c.C1054G:p.P352A,NDUFS2:ENST00000677550.1:exon11:c.C1054G:p.P352A,NDUFS2:ENST00000677579.1:exon11:c.C1054G:p.P352A,NDUFS2:ENST00000677846.1:exon11:c.C1054G:p.P352A,NDUFS2:ENST00000678507.1:exon11:c.C1054G:p.P352A,NDUFS2:ENST00000678511.1:exon11:c.C1054G:p.P352A,NDUFS2:ENST00000679176.1:exon11:c.C1054G:p.P352A -31.7533328533173 4.22735595703125 1.0 7.306
19:44908822:C:T rs7412 19 44908822 C T APOE nonsynonymous SNV APOE:ENST00000252486.9:exon4:c.C526T:p.R176C -31.7470712661743 -29.0965709686279 0.166 1.455
3:119676952:A:C rs2280578 3 119676952 A C COX17 nonsynonymous SNV COX17:ENST00000484810.5:exon2:c.T122G:p.V41G 31.746265411377 1.27978324890137 0.0 -0.0545
3:122635945:G:A rs12489170 3 122635945 G A PARP15 nonsynonymous SNV PARP15:ENST00000493645.1:exon7:c.G973A:p.G325R,PARP15:ENST00000310366.8:exon8:c.G1180A:p.G394R,PARP15:ENST00000483793.5:exon9:c.G1297A:p.G433R,PARP15:ENST00000464300.7:exon12:c.G1882A:p.G628R -31.7455368041992 -11.695381164549 1.0 9.713
16:54284260:C:A rs1126960 16 54284260 C A IRX3 nonsynonymous SNV IRX3:ENST00000329734.4:exon3:c.G1437T:p.Q479H -31.7338514328003 -21.8888912200928 0.999 3.397
3:112041926:C:T rs11929695 3 112041926 C T TMPRSS7 nonsynonymous SNV TMPRSS7:ENST00000452346.7:exon3:c.C305T:p.T102I 31.7297248840332 7.38134765625 1.0 2.1965
22:19432586:T:C rs1128399 22 19432586 T C MRPL40 nonsynonymous SNV MRPL40:ENST00000333130.4:exon1:c.T32C:p.L11P 31.7056512832642 1.05807495117188 0.0505 -0.558
14:73718893:C:T rs9652296 14 73718893 C T MIDEAS nonsynonymous SNV MIDEAS:ENST00000423556.7:exon13:c.G3250A:p.A1084T 31.6780138015747 1.35060119628906 0.0005 -0.0995
2:232380220:G:C rs1048988 2 232380220 G C ALPP nonsynonymous SNV ALPP:ENST00000392027.3:exon6:c.G692C:p.R231P 31.6713485717773 34.5610809326172 0.478 0.9775
20:43189649:C:G rs2867655 20 43189649 C G PTPRT nonsynonymous SNV PTPRT:ENST00000356100.6:exon1:c.G85C:p.A29P,PTPRT:ENST00000373184.5:exon1:c.G85C:p.A29P,PTPRT:ENST00000373187.6:exon1:c.G85C:p.A29P,PTPRT:ENST00000373190.5:exon1:c.G85C:p.A29P,PTPRT:ENST00000373193.7:exon1:c.G85C:p.A29P,PTPRT:ENST00000373198.8:exon1:c.G85C:p.A29P,PTPRT:ENST00000373201.5:exon1:c.G85C:p.A29P -31.6516828536992 -4.66516876220703 0.9635 0.994
20:4725072:C:T rs2245220 20 4725072 C T PRND nonsynonymous SNV PRND:ENST00000305817.3:exon2:c.C521T:p.T174M 31.6474726200104 0.0670928955096315 0.0 -1.2565
2:43844604:A:G rs4148211 2 43844604 A G ABCG8 nonsynonymous SNV ABCG8:ENST00000272286.4:exon2:c.A161G:p.Y54C -31.6425657272339 -4.94612121582031 1.0 3.666
9:95447312:G:A rs357564 9 95447312 G A PTCH1 nonsynonymous SNV PTCH1:ENST00000692981.1:exon22:c.C3491T:p.P1164L,PTCH1:ENST00000331920.11:exon23:c.C3944T:p.P1315L,PTCH1:ENST00000429896.6:exon23:c.C3491T:p.P1164L,PTCH1:ENST00000430669.6:exon23:c.C3746T:p.P1249L,PTCH1:ENST00000437951.6:exon23:c.C3941T:p.P1314L,PTCH1:ENST00000711046.1:exon23:c.C3746T:p.P1249L -31.5854892730713 -37.6024971008301 1.0 8.6225
1:164559883:G:A rs2275558 1 164559883 G A PBX1 nonsynonymous SNV PBX1:ENST00000367897.5:exon1:c.G61A:p.G21S,PBX1:ENST00000420696.7:exon1:c.G61A:p.G21S,PBX1:ENST00000559240.5:exon1:c.G61A:p.G21S,PBX1:ENST00000627490.2:exon1:c.G61A:p.G21S,PBX1:ENST00000699845.1:exon1:c.G61A:p.G21S,PBX1:ENST00000485769.5:exon2:c.G61A:p.G21S -31.5801687240601 2.74397850036621 1.0 7.918
12:6845700:G:A rs5442 12 6845700 G A GNB3 nonsynonymous SNV GNB3:ENST00000229264.8:exon9:c.G814A:p.G272S,GNB3:ENST00000435982.6:exon9:c.G811A:p.G271S -31.5476763248444 -17.000846862793 1.0 10.003
12:55492705:T:A rs7304753 12 55492705 T A OR6C68 nonsynonymous SNV OR6C68:ENST00000548615.1:exon1:c.T328A:p.F110I 31.5476341247559 8.60588455200195 0.0 -0.12
15:55497712:C:T rs17819126 15 55497712 C T DNAAF4 nonsynonymous SNV DNAAF4:ENST00000348518.4:exon2:c.G271A:p.V91I,DNAAF4:ENST00000448430.6:exon2:c.G271A:p.V91I,DNAAF4:ENST00000457155.6:exon2:c.G271A:p.V91I,DNAAF4:ENST00000321149.7:exon3:c.G271A:p.V91I -31.546867609024 -7.73197937011719 0.9395 0.9385
5:178695516:C:G rs1000057 5 178695516 C G MSANTD5 nonsynonymous SNV MSANTD5:ENST00000648368.2:exon3:c.G174C:p.R58S -31.5267963409424 3.5299072265625 0.0 -1.9815
19:23744543:T:C rs7245561 19 23744543 T C ZNF681 nonsynonymous SNV ZNF681:ENST00000402377.3:exon4:c.A1007G:p.K336R 31.506103515625 14.0122680664062 0.0695 1.5785
2:224946875:T:A rs78257220 2 224946875 T A DOCK10 nonsynonymous SNV DOCK10:ENST00000409592.7:exon1:c.A77T:p.N26I 31.4970169067383 14.8481445312464 0.9945 2.9
4:154320420:G:A rs11935573 4 154320420 G A DCHS2 nonsynonymous SNV DCHS2:ENST00000357232.10:exon9:c.C4979T:p.S1660L -31.4790937900543 -2.98439407348633 0.964 2.882
8:10498673:C:T rs12334382 8 10498673 C T PRSS51 nonsynonymous SNV PRSS51:ENST00000636217.1:exon2:c.G197A:p.G66D,PRSS51:ENST00000647010.1:exon2:c.G197A:p.G66D,PRSS51:ENST00000647727.1:exon2:c.G197A:p.G66D -31.4416084289551 -19.9152965545654 1.0 3.472
21:26932893:C:T rs2830585 21 26932893 C T ADAMTS5 nonsynonymous SNV ADAMTS5:ENST00000284987.6:exon5:c.G1841A:p.R614H -31.4207248687744 -14.6476306915283 1.0 5.902
7:37867702:T:C rs10250905 7 37867702 T C NME8 nonsynonymous SNV NME8:ENST00000440017.5:exon10:c.T622C:p.C208R,NME8:ENST00000199447.9:exon11:c.T622C:p.C208R -31.3879776000977 12.12060546875 1.0 1.4495
19:37887133:G:A rs34785154 19 37887133 G A WDR87 nonsynonymous SNV WDR87:ENST00000303868.5:exon6:c.C6421T:p.R2141W,WDR87:ENST00000447313.7:exon6:c.C6538T:p.R2180W -31.383544921875 1.13049316406432 0.0 0.08
7:44000025:C:T rs4724270 7 44000025 C T SPDYE1 nonsynonymous SNV SPDYE1:ENST00000652520.1:exon2:c.C76T:p.R26C,SPDYE1:ENST00000693451.1:exon2:c.C76T:p.R26C -31.3813171386719 -3.84109497070312 0.0 -1.801
1:156670364:G:A rs3748570 1 156670364 G A NES nonsynonymous SNV NES:ENST00000368223.4:exon4:c.C3824T:p.P1275L 31.378303527832 8.40971374511719 0.9925 1.553
17:44087517:G:C rs228757 17 44087517 G C HDAC5 nonsynonymous SNV HDAC5:ENST00000225983.10:exon13:c.C1782G:p.D594E,HDAC5:ENST00000336057.9:exon13:c.C1779G:p.D593E,HDAC5:ENST00000586802.5:exon13:c.C1779G:p.D593E,HDAC5:ENST00000682912.1:exon13:c.C1779G:p.D593E,HDAC5:ENST00000715273.1:exon13:c.C1779G:p.D593E 31.3634967803955 9.37613677978516 0.4985 0.4005
8:10607587:C:T rs4354268 8 10607587 C T RP1L1 nonsynonymous SNV RP1L1:ENST00000382483.4:exon4:c.G6511A:p.E2171K 31.3266830444336 12.2082061767578 0.001 -0.735
11:60415497:A:T rs7131283 11 60415497 A T MS4A14 nonsynonymous SNV MS4A14:ENST00000531787.5:exon3:c.A193T:p.N65Y,MS4A14:ENST00000395005.6:exon4:c.A478T:p.N160Y,MS4A14:ENST00000300187.11:exon5:c.A529T:p.N177Y,MS4A14:ENST00000395001.5:exon5:c.A577T:p.N193Y,MS4A14:ENST00000531783.5:exon6:c.A628T:p.N210Y -31.3059158325195 -3.29777526855514 0.668 1.197
10:114272760:A:G rs597371 10 114272760 A G VWA2 nonsynonymous SNV VWA2:ENST00000392982.8:exon6:c.A392G:p.E131G 31.2929992675781 -1.76954650878906 0.98 2.237
16:68304045:T:C rs11548855 16 68304045 T C SLC7A6OS nonsynonymous SNV SLC7A6OS:ENST00000263997.11:exon3:c.A659G:p.Y220C -31.2856488227844 -13.455078125 1.0 6.953
14:50901892:A:G rs28564871 14 50901892 A G ABHD12B nonsynonymous SNV ABHD12B:ENST00000353130.5:exon8:c.A613G:p.I205V,ABHD12B:ENST00000337334.7:exon10:c.A844G:p.I282V 31.25146484375 11.5966796875 0.0 -0.0445
16:70146185:A:T rs2287978 16 70146185 A T PDPR nonsynonymous SNV PDPR:ENST00000398122.7:exon14:c.A1619T:p.Y540F,PDPR:ENST00000288050.9:exon16:c.A1919T:p.Y640F,PDPR:ENST00000568530.5:exon16:c.A1919T:p.Y640F -31.2427248954755 -2.5546875 1.0 4.7475
4:2174727:G:A rs9328764 4 2174727 G A ENSG00000290263;POLN nonsynonymous SNV POLN:ENST00000382865.5:exon8:c.C1273T:p.R425C,POLN:ENST00000511885.6:exon10:c.C1273T:p.R425C,ENSG00000290263:ENST00000672725.1:exon10:c.C2636T:p.S879L -31.2320437431335 3.04333114624023 1.0 1.7855
3:45011283:G:C rs6794 3 45011283 G C EXOSC7 nonsynonymous SNV EXOSC7:ENST00000265564.8:exon8:c.G820C:p.V274L 31.2096128463745 14.1007919311542 0.727 4.2905
2:61162602:T:G rs1729674 2 61162602 T G C2orf74 nonsynonymous SNV C2orf74:ENST00000432605.3:exon2:c.T88G:p.Y30D,C2orf74:ENST00000488469.4:exon2:c.T88G:p.Y30D 31.1671714782715 17.6162109375 0.7325 0.7215
19:10162696:T:C rs2228612 19 10162696 T C DNMT1 nonsynonymous SNV DNMT1:ENST00000340748.8:exon12:c.A931G:p.I311V,DNMT1:ENST00000676610.1:exon12:c.A931G:p.I311V,DNMT1:ENST00000677946.1:exon12:c.A931G:p.I311V,DNMT1:ENST00000678804.1:exon12:c.A931G:p.I311V,DNMT1:ENST00000679103.1:exon12:c.A931G:p.I311V,DNMT1:ENST00000679313.1:exon12:c.A931G:p.I311V,DNMT1:ENST00000359526.9:exon13:c.A979G:p.I327V 31.16552734375 5.7822265625 0.0 -0.944
19:54666711:A:G rs11574576 19 54666711 A G LILRB4 nonsynonymous SNV LILRB4:ENST00000391733.7:exon10:c.A1006G:p.N336D,LILRB4:ENST00000391734.7:exon10:c.A1003G:p.N335D,LILRB4:ENST00000430952.6:exon10:c.A1003G:p.N335D,LILRB4:ENST00000695418.1:exon10:c.A1003G:p.N335D,LILRB4:ENST00000391736.5:exon12:c.A1003G:p.N335D 31.1532516479492 4.30329895019531 0.0 0.268
12:75321550:C:A rs10879901 12 75321550 C A CAPS2 nonsynonymous SNV CAPS2:ENST00000393284.8:exon5:c.G318T:p.L106F,CAPS2:ENST00000409799.6:exon5:c.G204T:p.L68F,CAPS2:ENST00000699294.1:exon5:c.G204T:p.L68F,CAPS2:ENST00000409445.8:exon6:c.G318T:p.L106F 31.1431427001953 -0.2470703125 0.9875 2.2425
5:33998663:C:A rs34677 5 33998663 C A AMACR;ENSG00000289791 nonsynonymous SNV ENSG00000289791:ENST00000382068.3:exon3:c.G556T:p.V186F,AMACR:ENST00000382072.6:exon3:c.G556T:p.V186F,AMACR:ENST00000335606.11:exon4:c.G717T:p.Q239H,AMACR:ENST00000382085.7:exon4:c.G717T:p.Q239H,ENSG00000289791:ENST00000426255.6:exon4:c.G717T:p.Q239H,AMACR:ENST00000502637.5:exon4:c.G672T:p.Q224H,ENSG00000289791:ENST00000512079.5:exon4:c.G717T:p.Q239H -31.1180005073547 -6.26086616516113 1.0 3.9785
12:96534194:A:G rs2160501 12 96534194 A G CFAP54 nonsynonymous SNV CFAP54:ENST00000524981.9:exon11:c.A1672G:p.T558A 31.1057891845703 15.06005859375 0.0 -0.7125
15:79971064:C:T rs1138357 15 79971064 C T BCL2A1 nonsynonymous SNV BCL2A1:ENST00000267953.4:exon1:c.G56A:p.C19Y,BCL2A1:ENST00000335661.6:exon1:c.G56A:p.C19Y,BCL2A1:ENST00000677151.1:exon1:c.G56A:p.C19Y 31.0730705261212 -0.358642578126819 0.0065 0.8235
12:52675230:T:C rs14024 12 52675230 T C KRT1 nonsynonymous SNV KRT1:ENST00000252244.3:exon9:c.A1898G:p.K633R -31.0519218444824 -1.59932327270508 0.131 0.889
2:102165189:C:G rs2228139 2 102165189 C G IL1R1 nonsynonymous SNV IL1R1:ENST00000409288.5:exon5:c.C371G:p.A124G,IL1R1:ENST00000409329.5:exon5:c.C371G:p.A124G,IL1R1:ENST00000409589.5:exon5:c.C371G:p.A124G,IL1R1:ENST00000409929.5:exon5:c.C371G:p.A124G,IL1R1:ENST00000410023.6:exon5:c.C371G:p.A124G,IL1R1:ENST00000424272.5:exon5:c.C371G:p.A124G 31.0443630218506 -0.0164756774902344 0.0 -0.34
13:21168172:C:T rs61950353 13 21168172 C T SKA3 nonsynonymous SNV SKA3:ENST00000314759.6:exon4:c.G559A:p.V187I,SKA3:ENST00000400018.7:exon4:c.G559A:p.V187I -31.043580055235 -1.431640625 0.0 -1.8145
14:22901846:G:C rs1127066 14 22901846 G C RBM23 nonsynonymous SNV RBM23:ENST00000555209.5:exon10:c.C534G:p.F178L,RBM23:ENST00000346528.9:exon11:c.C1182G:p.F394L,RBM23:ENST00000542016.6:exon11:c.C774G:p.F258L,RBM23:ENST00000399922.6:exon12:c.C1236G:p.F412L,RBM23:ENST00000359890.8:exon13:c.C1284G:p.F428L -31.0305824279785 16.4752025604248 1.0 3.5395
5:33576497:A:G rs3813474 5 33576497 A G ADAMTS12 nonsynonymous SNV ADAMTS12:ENST00000352040.7:exon17:c.T3274C:p.W1092R,ADAMTS12:ENST00000504830.6:exon19:c.T3529C:p.W1177R -30.9787817001343 -23.7162933349609 0.4885 1.0795
11:20601496:T:C rs1443548 11 20601496 T C SLC6A5 nonsynonymous SNV SLC6A5:ENST00000525748.6:exon2:c.T371C:p.F124S 30.9690418243408 13.8629150390625 0.5635 1.2035
8:22164004:G:A rs1124 8 22164004 G A SFTPC nonsynonymous SNV SFTPC:ENST00000524255.5:exon4:c.G398A:p.S133N,SFTPC:ENST00000318561.7:exon5:c.G557A:p.S186N,SFTPC:ENST00000521315.5:exon5:c.G539A:p.S180N,SFTPC:ENST00000679463.1:exon5:c.G539A:p.S180N -30.9671878814697 -2.90071105957031 0.9015 0.6545
2:231000429:G:C rs12105962 2 231000429 G C SPATA3 nonsynonymous SNV SPATA3:ENST00000424440.5:exon2:c.G365C:p.C122S,SPATA3:ENST00000433428.7:exon2:c.G365C:p.C122S,SPATA3:ENST00000452881.5:exon2:c.G365C:p.C122S,SPATA3:ENST00000455816.1:exon2:c.G365C:p.C122S,SPATA3:ENST00000645363.1:exon2:c.G854C:p.C285S -30.9645729064941 1.400390625 1.0 2.7825
9:110404512:A:T rs3739451 9 110404512 A T SVEP1 nonsynonymous SNV SVEP1:ENST00000374469.6:exon39:c.T9481A:p.F3161I 30.9605875015259 13.5137634277344 0.969 0.791
12:48184542:A:C rs10783231 12 48184542 A C CCDC184 nonsynonymous SNV CCDC184:ENST00000316554.5:exon1:c.A420C:p.E140D -30.9605402946472 -11.5114841461182 0.238 0.6475
5:79030927:G:C rs1805073 5 79030927 G C DMGDH nonsynonymous SNV DMGDH:ENST00000255189.8:exon10:c.C1589G:p.A530G 30.9331922531128 10.492073059082 1.0 6.955
2:158807087:T:C rs9869 2 158807087 T C DAPL1 nonsynonymous SNV DAPL1:ENST00000309950.8:exon3:c.T179C:p.L60P,DAPL1:ENST00000409042.5:exon3:c.T179C:p.L60P,DAPL1:ENST00000621326.4:exon3:c.T179C:p.L60P 30.9236335754395 2.6044921875 0.999 4.6365
6:154039662:A:G rs1799971 6 154039662 A G OPRM1 nonsynonymous SNV OPRM1:ENST00000229768.9:exon1:c.A118G:p.N40D,OPRM1:ENST00000330432.12:exon1:c.A118G:p.N40D,OPRM1:ENST00000337049.8:exon1:c.A118G:p.N40D,OPRM1:ENST00000360422.8:exon1:c.A304G:p.N102D,OPRM1:ENST00000414028.6:exon1:c.A118G:p.N40D,OPRM1:ENST00000419506.6:exon1:c.A118G:p.N40D,OPRM1:ENST00000428397.6:exon1:c.A118G:p.N40D,OPRM1:ENST00000435918.6:exon1:c.A118G:p.N40D,OPRM1:ENST00000452687.6:exon1:c.A118G:p.N40D,OPRM1:ENST00000524163.5:exon1:c.A118G:p.N40D,OPRM1:ENST00000434900.6:exon3:c.A397G:p.N133D -30.9200053215027 -9.40709495544434 1.0 4.7725
2:227238007:G:C rs13424243 2 227238007 G C COL4A3 nonsynonymous SNV COL4A3:ENST00000396578.8:exon2:c.G127C:p.G43R 30.9057464599609 -1.13671875 0.2135 1.7805
6:126340356:G:T rs41285260 6 126340356 G T CENPW nonsynonymous SNV CENPW:ENST00000368325.5:exon1:c.G83T:p.R28L,CENPW:ENST00000368326.5:exon1:c.G83T:p.R28L,CENPW:ENST00000368328.5:exon1:c.G83T:p.R28L -30.9000854492188 -23.5859832763672 0.047 -0.107
17:744946:G:A rs7813 17 744946 G A GEMIN4 nonsynonymous SNV GEMIN4:ENST00000576778.1:exon1:c.C3064T:p.R1022C,GEMIN4:ENST00000319004.6:exon2:c.C3097T:p.R1033C -30.8985872268677 -12.9139575958257 0.993 3.786
9:14722479:G:C rs3747532 9 14722479 G C CER1 nonsynonymous SNV CER1:ENST00000380911.4:exon1:c.C194G:p.A65G 30.8698596954346 2.41096878051758 0.045 1.0355
22:22245293:G:A rs5995720 22 22245293 G A VPREB1 nonsynonymous SNV VPREB1:ENST00000403807.4:exon2:c.G394A:p.E132K 30.8503189086914 0.571632385253906 0.0 -1.2195
1:204261453:G:A rs3795569 1 204261453 G A PLEKHA6 nonsynonymous SNV PLEKHA6:ENST00000414478.1:exon7:c.C437T:p.P146L -30.8288152217865 -14.7212505340576 1.0 3.681
3:142823607:G:T rs17554211 3 142823607 G T PCOLCE2 nonsynonymous SNV PCOLCE2:ENST00000295992.8:exon7:c.C874A:p.P292T,PCOLCE2:ENST00000648195.1:exon7:c.C874A:p.P292T -30.8270683288574 -3.2005615234375 1.0 3.5615
17:75930040:C:A rs1135889 17 75930040 C A FBF1 nonsynonymous SNV FBF1:ENST00000586717.5:exon6:c.G194T:p.G65V,FBF1:ENST00000636174.2:exon7:c.G236T:p.G79V -30.8194465637207 -19.4140625 0.698 2.6525
7:6005996:C:T rs10254120 7 6005996 C T PMS2 nonsynonymous SNV PMS2:ENST00000265849.12:exon2:c.G59A:p.R20Q,PMS2:ENST00000382321.5:exon2:c.G59A:p.R20Q,PMS2:ENST00000699752.1:exon2:c.G59A:p.R20Q,PMS2:ENST00000699754.1:exon2:c.G59A:p.R20Q,PMS2:ENST00000699766.1:exon2:c.G59A:p.R20Q,PMS2:ENST00000699768.1:exon2:c.G59A:p.R20Q,PMS2:ENST00000699827.1:exon2:c.G59A:p.R20Q,PMS2:ENST00000699840.2:exon2:c.G59A:p.R20Q,PMS2:ENST00000699930.2:exon2:c.G59A:p.R20Q,PMS2:ENST00000699952.1:exon2:c.G59A:p.R20Q,PMS2:ENST00000699839.1:exon3:c.G245A:p.R82Q -30.8129243850726 -1.49874114990234 0.9685 1.469
3:44906987:C:T rs3749195 3 44906987 C T TGM4 nonsynonymous SNV TGM4:ENST00000296125.9:exon10:c.C1114T:p.R372C,TGM4:ENST00000705784.1:exon11:c.C1249T:p.R417C -30.811017036438 -3.4642333984375 0.0 -0.396
10:89306318:A:G rs2070845 10 89306318 A G IFIT2 nonsynonymous SNV IFIT2:ENST00000371826.4:exon2:c.A362G:p.K121R,IFIT2:ENST00000679755.1:exon2:c.A290G:p.K97R,IFIT2:ENST00000679734.1:exon3:c.A290G:p.K97R,IFIT2:ENST00000680809.1:exon3:c.A362G:p.K121R,IFIT2:ENST00000680954.1:exon3:c.A362G:p.K121R,IFIT2:ENST00000680381.1:exon4:c.A290G:p.K97R,IFIT2:ENST00000638108.1:exon5:c.A362G:p.K121R -30.8073310852051 -8.02199172973633 0.1085 1.0535
20:33088998:A:C rs2889732 20 33088998 A C BPIFB4 nonsynonymous SNV BPIFB4:ENST00000674031.1:exon5:c.A1325C:p.N442T,BPIFB4:ENST00000375483.4:exon8:c.A959C:p.N320T -30.8070211410522 -5.65419769287109 0.5 1.5235
10:13298236:G:A rs28938169 10 13298236 G A PHYH nonsynonymous SNV PHYH:ENST00000263038.9:exon2:c.C85T:p.P29S,PHYH:ENST00000396920.7:exon2:c.C28T:p.P10S -30.80078125 5.142578125 0.5215 1.2355
20:33008666:A:T rs6088066 20 33008666 A T BPIFB2 nonsynonymous SNV BPIFB2:ENST00000170150.4:exon2:c.A92T:p.K31M -30.7931480407719 -6.02070617675781 0.0345 0.249
8:86667075:A:C rs6471482 8 86667075 A C CNGB3 nonsynonymous SNV CNGB3:ENST00000320005.6:exon6:c.T702G:p.C234W 30.7781577110291 29.7317695617676 1.0 6.456
10:50068174:G:A rs55875820 10 50068174 G A WASHC2A nonsynonymous SNV WASHC2A:ENST00000282633.10:exon2:c.G73A:p.V25M,WASHC2A:ENST00000314664.12:exon2:c.G73A:p.V25M,WASHC2A:ENST00000351071.11:exon2:c.G73A:p.V25M,WASHC2A:ENST00000611324.4:exon2:c.G73A:p.V25M -30.7276713848114 -1.12288475036621 1.0 4.557
19:8502591:T:C rs968502 19 8502591 T C PRAM1 startloss PRAM1:ENST00000423345.5:exon1:c.A1G:p.M1? -30.7251949310303 -4.294921875 0.0 -0.831
11:18716734:C:T rs10766494 11 18716734 C T IGSF22 nonsynonymous SNV IGSF22:ENST00000513874.6:exon10:c.G1240A:p.V414I -30.7167348861694 -4.36305236816406 0.8845 0.951
3:39136946:G:T rs35934336 3 39136946 G T TTC21A nonsynonymous SNV TTC21A:ENST00000440121.1:exon23:c.G3020T:p.R1007L,TTC21A:ENST00000431162.6:exon24:c.G3164T:p.R1055L,TTC21A:ENST00000683103.1:exon24:c.G3143T:p.R1048L -30.7058029174805 -3.83553123474121 0.87 4.934