Supplementary Table 2: List of 485 Variants Located Within Genes Associated with Primary
Supplementary Table 2: List of 485 variants located within genes associated with primary immunodeficiency satisfying the filtering criteria.
All AF / Scores / PredictionsGene / Chr / Position / cDNA
Change / Protein
Change / rs ID / 1000
Genomes / EVS / ExAC / CADD
Scaled / GERP / Grantham / SIFT† / Polyphen2‡ / Transmission
PIK3CD / 1 / 9775933 / c.397G>A / p.Asp133Asn / None / n/a / n/a / 1.65x10-5 / 11.83 / 5.7 / 23 / T / B / n/a
MASP2 / 1 / 11090276 / c.1254G>C / p.Trp418Cys / None / n/a / n/a / 8.24x10-6 / 18.14 / 5.63 / 215 / D / PrD / n/a
MASP2 / 1 / 11106673 / c.352C>T / p.Arg118Cys / rs147270785 / 0.0005 / 0.0007 / 0.0005 / 15.5 / 4.77 / 180 / D / PsD / n/a
C1QC / 1 / 22970524 / c.8T>C / p.Val3Ala / rs367838299 / n/a / 0.0001 / 0.0009 / 12.06 / 0.554 / 64 / T / B / n/a
C1QC / 1 / 22970536 / c.20C>A / p.Ser7Tyr / rs377290060 / n/a / 0.0002 / 0.0005 / 11.22 / 1.01 / 144 / D / B / n/a
C1QB / 1 / 22987340 / c.223G>A / p.Gly75Arg / rs35477594 / 0.0005 / 0.0005 / 0.0005 / 27.9 / 5.2 / 125 / D / PrD / n/a
FCN3 / 1 / 27695767 / c.860T>G / p.Val287Ala / rs55863154 / n/a / 0.0004 / 0.0002 / 19.99 / 2.17 / 64 / T / B / n/a
HDAC1 / 1 / 32797336 / c.1148C>T / p.Ala383Val / rs551994577 / n/a / n/a / 0.0001 / 14.59 / 2.64 / 64 / T / B / n/a
CSF3R / 1 / 36940984 / c.355G>A / p.Ala119Thr / rs142999683 / 0.0009 / 0.0006 / 0.0006 / 25.8 / 5.49 / 58 / D / PrD / n/a
HIVEP3 / 1 / 41984117 / c.5426A>G / p.Lys1809Arg / None / n/a / n/a / n/a / 24.3 / 3.81 / 26 / D / PsD / n/a
HIVEP3 / 1 / 42045818 / c.4651G>A / p.Val1551Met / rs141954697 / 0.0005 / 0.0002 / 0.0002 / 11.71 / 3.39 / 21 / D / B / n/a
HIVEP3 / 1 / 42048032 / c.2437G>C / p.Glu813Gln / rs143750631 / n/a / n/a / n/a / 13.6 / 4.21 / 29 / D / PrD / n/a
HIVEP3 / 1 / 42048869 / c.1600C>G / p.Pro534Ala / rs150413814 / 0.0005 / 0.0005 / 0.0005 / 13.15 / 4.76 / 27 / T / PsD / n/a
HIVEP3 / 1 / 42049097 / c.1372C>T / p.Arg458Trp / rs373430944 / n/a / 0.0001 / n/a / 17.13 / 3.88 / 101 / D / PrD / n/a
HIVEP3 / 1 / 42050000 / c.469C>T / p.Leu157Phe / rs140848637 / n/a / n/a / n/a / 11.6 / 3.16 / 22 / T / PrD / n/a
HIVEP3 / 1 / 42050090 / c.379C>T / p.Pro127Ser / rs140877828 / n/a / 0.0006 / 0.0004 / 11.16 / 4.7 / 74 / T / PsD / n/a
C8A / 1 / 57373742 / c.1336T>G / p.Trp446Gly / rs147281350 / n/a / n/a / n/a / 19.8 / 6.03 / 184 / D / PrD / n/a
C8B / 1 / 57409499 / c.950-2A>G / n/a / None / n/a / n/a / n/a / 14.48 / 4.49 / n/a / n/a / n/a / n/a
CD53 / 1 / 111437624 / c.370C>T / p.Arg124Cys / None / n/a / n/a / 4.12x10-5 / 12.18 / 2.5 / 180 / D / PrD / n/a
RFX5 / 1 / 151314742 / c.1771G>A / p.Gly591Ser / None / n/a / n/a / n/a / 18.09 / 5.37 / 56 / D / PrD / maternal
RFX5 / 1 / 151314825 / c.1688C>T / p.Ser563Leu / rs150072792 / 0.0005 / 0.0005 / 0.0005 / 11.51 / 4.24 / 145 / D / B / n/a
RFX5 / 1 / 151315501 / c.1012C>T / p.Arg338Cys / None / n/a / n/a / 1.65x10-5 / 16.67 / 4.46 / 180 / D / PrD / n/a
HAX1 / 1 / 154246035 / c.277A>C / p.Ser93Arg / None / n/a / n/a / n/a / 16.57 / 1.97 / 110 / T / PsD / n/a
HAX1 / 1 / 154247918 / c.713C>T / p.Thr238Ile / rs377331781 / n/a / 0.0002 / 0.0001 / 25.5 / 5.13 / 89 / D / PrD / n/a
FCGR3B / 1 / 161600910 / c.83T>G / p.Val28Gly / None / n/a / n/a / 4.13x10-5 / 12.91 / -1.34 / 109 / T / n/a / n/a
FASLG / 1 / 172628600 / c.259T>C / p.Phe87Leu / rs530390117 / n/a / n/a / 0.0003 / 16.36 / 4.62 / 22 / T / B / n/a
IL10 / 1 / 206944256 / c.374C>T / p.Arg125His / rs374619208 / n/a / 0.0001 / 1.65x10-5 / 15.65 / 5.05 / 29 / D / PsD / n/a
C4BPB / 1 / 207263734 / c.140A>T / p.Tyr47Phe / rs200340103 / 0.0009 / n/a / 8.24x10-6 / 15.25 / 4.26 / 22 / D / PrD / n/a
C4BPA / 1 / 207317333 / c.1615G>C / p.Glu539Gln / rs141497046 / n/a / 0.0006 / 0.0006 / 16.7 / 5.29 / 29 / T / PrD / paternal
CR2 / 1 / 207640084 / c.272G>T / p.Cys91Phe / None / n/a / n/a / n/a / 16.7 / 5 / 205 / D / PrD / n/a
CR2 / 1 / 207641901 / c.475A>G / p.Met159Val / None / n/a / n/a / 3.30x10-5 / 11.03 / -5.54 / 21 / T / B / n/a
CR2 / 1 / 207641911 / c.485A>G / p.Asn162Ser / rs190990627 / 0.0009 / 0.0001 / 0.0001 / 16.06 / 4.7 / 46 / T / PsD / n/a
CR2 / 1 / 207646917 / c.2006A>G / p.His669Arg / rs139230275 / n/a / 0.0005 / 0.0004 / 15.27 / 1.29 / 29 / T / PrD / n/a
TARBP1 / 1 / 234534278 / c.4093C>T / p.Arg1365Cys / rs369680698 / n/a / 0.0001 / 4.94x10-5 / 21.2 / 5.85 / 180 / D / PrD / n/a
TARBP1 / 1 / 234614060 / c.790C>T / p.Arg264Cys / rs554398742 / n/a / n/a / 0.0002 / 28.9 / 3.57 / 180 / D / PrD / n/a
TARBP1 / 1 / 234614462 / c.388G>C / p.Ala130Pro / rs570176833 / n/a / n/a / 0.0003 / 13.67 / 2.55 / 27 / T / B / paternal
LYST / 1 / 235918887 / c.7120C>T / p.Arg2374Cys / None / n/a / n/a / 2.47x10-5 / 26.8 / 5.3 / 180 / D / PrD / n/a
LYST / 1 / 235964178 / c.3932T>C / p.Met1311Thr / None / n/a / n/a / n/a / 14.18 / 6.16 / 81 / T / B / n/a
NLRP3 / 1 / 247593041 / c.2311A>C / p.Asn771His / None / n/a / n/a / n/a / 11.58 / 1.87 / 68 / D / B / n/a
COLEC11 / 2 / 3652045 / c.115G>A / p.Val39Ile / None / n/a / n/a / 0.0001 / 13.11 / 3.95 / 29 / T / PsD / n/a
All AF / Scores / Predictions
Gene / Chr / Position / cDNA
Change / Protein
Change / rs ID / 1000
Genomes / EVS / ExAC / CADD
Scaled / GERP / Grantham / SIFT† / Polyphen2‡ / Transmission
COLEC11 / 2 / 3660907 / c.137C>T / p.Ala46Val / None / n/a / n/a / 4.95x10-5 / 11.14 / 3.72 / 64 / T / B / n/a
COLEC11 / 2 / 3691625 / c.733A>T / p.Met245Leu / None / n/a / n/a / n/a / 15.98 / 3.92 / 15 / T / B / n/a
TTC7A / 2 / 47202157 / c.563G>T / p.Arg188Leu / rs147471840 / n/a / 0.0008 / 0.0008 / 28.5 / 5.9, 5.9 / 102 / D,T / PrD / n/a
TTC7A / 2 / 47221530 / c.878A>C / p.His293Pro / rs150578101 / n/a / 0.0002 / 2.47x10-5 / 17.41 / 3.43 / 77 / D / PrD / n/a
ZAP70 / 2 / 98354069 / c.1423G>T / p.Ala475Ser / rs199994054 / n/a / n/a / 8.24x10-6 / 24.6 / 4.33 / 99 / D / PrD / n/a
IL36RN / 2 / 113819812 / c.227C>T / p.Pro76Leu / rs139497891 / 0.0005 / 0.0002 / 0.0003 / 12.62 / 5.21 / 98 / T / PrD / n/a
DPP4 / 2 / 162881451 / c.888-2A>G / n/a / rs201465469 / n/a / n/a / 1.65x10-5 / 13.16 / 5.2 / n/a / n/a / n/a / n/a
WIPF1 / 2 / 175440078 / c.212G>A / p.Gly71Asp / rs145037448 / n/a / 0.0004 / 0.0003 / 14.95 / 4.14 / 94 / D / B / n/a
GLS / 2 / 191745958 / c.148G>T / p.Ala50Ser / None / n/a / n/a / n/a / 15.11 / 1.08 / 99 / T / B / n/a
CASP8 / 2 / 202131301 / c.269C>T / p.Pro90Leu / None / n/a / n/a / 2.47x10-5 / 16.46 / 5.47 / 98 / D / PrD / n/a
CASP8 / 2 / 202137381 / c.609A>G / p.Ile203Met / rs149933993 / n/a / 0.0005 / 0.0002 / 14.6 / -3.29 / 10 / T / B / n/a
NHEJ1 / 2 / 220022915 / c.170G>A / p.Arg57Gln / rs61753339 / n/a / 0.0007 / 0.0002 / 34 / 5.7 / 43 / D / PrD / n/a
AGFG1 / 2 / 228416675 / c.1451C>T / p.Ala484Val / rs371965782 / n/a / n/a / 0.0001 / 23.1 / 5.5 / 64 / T / PrD / n/a
MLPH / 2 / 238428574 / c.577C>T / p.His193Tyr / None / n/a / n/a / n/a / 17.8 / 4.07 / 83 / D / PrD / n/a
MLPH / 2 / 238457871 / c.1625C>T / p.Ala542Val / None / n/a / n/a / 1.65x10-5 / 12.85 / 2.9 / 64 / T / B / n/a
CX3CR1 / 3 / 39307125 / c.972C>G / p.Ile324Met / rs201179424 / n/a / 0.0005 / 0.0002 / 16.22 / 5.91 / 10 / D / PrD / n/a
CCR2 / 3 / 46400061 / c.1043C>T / p.Thr348Met / None / n/a / n/a / 0.0002 / 14.28 / 4.91 / 81 / D / PrD / n/a
CCR5 / 3 / 46414696 / c.303T>A / p.Cys101* / rs1800560 / 0.0004 / 0.0008 / 0.0006 / 13.36 / -10.5 / n/a / n/a / n/a / n/a
VPRBP / 3 / 51457435 / c.2989C>T / p.His997Tyr / None / n/a / n/a / 8.26x10-6 / 11.16 / 5.88 / 83 / n/a / PsD / n/a
GPR15 / 3 / 98251064 / c.187G>T / p.Gly63Cys / rs145360341 / n/a / n/a / n/a / 13 / 3.8 / 159 / D / PrD / maternal
GATA2 / 3 / 128205850 / c.25C>A / p.Arg9Ser / None / n/a / n/a / n/a / 35 / 4.72 / 110 / D / PrD / n/a
ATR / 3 / 142255041 / c.3728A>T / p.Asp1243Val / None / n/a / n/a / n/a / 11.25 / 3.18 / 152 / T / B / n/a
ATR / 3 / 142272170 / c.2704T>C / p.Ser902Pro / rs146202702 / 0.0005 / 0.0005 / 0.0007 / 12.88 / 5.53 / 74 / T / B / paternal
ERVMER34-1 / 4 / 53610210 / c.1478T>G / p.Val493Gly / None / n/a / n/a / 0.0005 / 10.02 / n/a / 109 / n/a / PsD / paternal
ERVMER34-1 / 4 / 53610701 / c.987C>A / p.Tyr329* / rs374925212 / n/a / 0.0004 / 0.0001 / 24.9 / n/a / n/a / n/a / n/a / n/a
NFKB1 / 4 / 103501721 / c.760G>T / p.Val254Leu / None / n/a / n/a / 8.24x10-6 / 27.5 / 5.5 / 32 / T / PsD / n/a
NFKB1 / 4 / 103518782 / c.1601G>A / p.Arg534His / rs150281816 / 0.0005 / 0.0005 / 0.0004 / 26.4 / 4.5 / 29 / D / PrD / n/a
MAB21L2 / 4 / 151504638 / c.457G>A / p.Ala153Thr / rs139813980 / 0.0005 / 0.0002 / 0.0001 / 15.3 / 5.53 / 58 / T / B / n/a
LRBA / 4 / 151789441 / c.2466T>G / p.Ile822Met / rs530949155 / n/a / n/a / 0.0007 / 16.86 / 4.08 / 10 / D / PrD / n/a
TLR3 / 4 / 186997872 / c.99A>T / p.Glu33Asp / None / n/a / n/a / n/a / 12.44 / -5.12 / 45 / T / B / n/a
TLR3 / 4 / 186997949 / c.176C>A / p.Thr59Asn / rs143307508 / 0.0005 / 0.0004 / 0.0002 / 24.8 / 5.47 / 65 / D / B / n/a
TLR3 / 4 / 187004425 / c.1585C>T / p.Leu529Phe / rs201222071 / n/a / n/a / 0.0001 / 22.5 / 5.67 / 22 / D / PrD / n/a
IL7R / 5 / 35861064 / c.193A>C / p.Asn65His / None / n/a / n/a / n/a / 12.32 / 3.51 / 68 / T / B / n/a
C9 / 5 / 39288825 / c.1645G>A / p.Gly549Arg / None / n/a / n/a / n/a / 10.91 / 4.92 / 125 / D / PsD / n/a
C9 / 5 / 39364489 / c.77+1G>T / n/a / None / n/a / n/a / n/a / 11.78 / 4.45 / n/a / n/a / n/a / paternal
C7 / 5 / 40936500 / c.341C>T / p.Ala114Val / None / n/a / n/a / n/a / 12.27 / 4.46 / 64 / T / PsD / n/a
C7 / 5 / 40958356 / c.1482T>G / p.Asn494Lys / rs369519856 / n/a / 0.0001 / 3.31x10-5 / 13.31 / -7.72 / 94 / T / B / n/a
C6 / 5 / 41150048 / c.2370A>C / p.Glu790Asp / None / n/a / n/a / n/a / 15.71 / 3.69 / 45 / T / PsD / n/a
PIK3R1 / 5 / 67592154 / c.1970A>G / p.Tyr657Cys / None / n/a / n/a / n/a / 18.2 / 3.92 / 194 / D / PrD / n/a
TTC37 / 5 / 94856454 / c.2080G>C / p.Asp694His / rs576329664 / n/a / n/a / 3.30x10-5 / 18.22 / 4.3 / 81 / D / PsD / paternal
TTC37 / 5 / 94877609 / c.236G>T / p.Gly79Val / None / n/a / n/a / n/a / 24 / 5.44 / 109 / D / PrD / n/a
SPINK5 / 5 / 147469169 / c.587T>C / p.Met196Thr / None / n/a / n/a / 1.65x10-5 / 17.85 / 5.84 / 81 / D / PsD / n/a
ITK / 5 / 156665140 / c.790G>A / p.Val264Ile / None / n/a / n/a / 8.24x10-6 / 16.7 / 4.72 / 29 / D / PrD / n/a
F12 / 5 / 176831892 / c.553C>T / p.His185Tyr / None / n/a / n/a / n/a / 19.47 / -0.4 / 83 / D / PrD / n/a
All AF / Scores / Predictions
Gene / Chr / Position / cDNA
Change / Protein
Change / rs ID / 1000
Genomes / EVS / ExAC / CADD
Scaled / GERP / Grantham / SIFT† / Polyphen2‡ / Transmission
HIVEP1 / 6 / 12120611 / c.583G>C / p.Ala195Pro / None / n/a / n/a / n/a / 17.81 / 5.59 / 27 / T / PsD / n/a
HIVEP1 / 6 / 12124682 / c.4654A>T / p.Ser1552Cys / rs527493205 / n/a / n/a / 0.0001 / 10.39 / 4.78 / 112 / T / B / n/a
GNL1 / 6 / 30514577 / c.1478C>T / p.Ala493Val / rs141407258 / 0.0005 / 0.0009 / 0.0009 / 20.3 / 4.57 / 64 / D / B / n/a
GNL1 / 6 / 30522369 / c.583A>G / p.Thr195Ala / None / n/a / n/a / n/a / 13.77 / 5.84 / 58 / T / PsD / n/a
GNL1 / 6 / 30522847 / c.361T>C / p.Tyr121His / None / n/a / n/a / 0.0002 / 21.9 / 5.23 / 83 / D / PrD / n/a
PRR3 / 6 / 30529849 / c.408G>C / p.Trp136Cys / None / n/a / n/a / n/a / 14.51 / 3.13 / 215 / D / PrD / n/a
ABCF1 / 6 / 30545667 / c.193C>T / p.Gln65* / None / n/a / n/a / n/a / 19.89 / 5.3 / n/a / n/a / n/a / paternal
ABCF1 / 6 / 30546263 / c.398C>T / p.Ala133Val / rs201652352 / 0.0005 / n/a / 0.0003 / 24.9 / 4.26 / 64 / D / B / n/a
PPP1R10 / 6 / 30576888 / c.160C>G / p.Leu54Val / None / n/a / n/a / n/a / 10.64 / 4.24 / 32 / T / B / n/a
MRPS18B / 6 / 30585694 / c.52C>T / p.Leu18Phe / rs116707717 / n/a / n/a / 0.0007 / 12.08 / -1.03 / 22 / T / B / n/a
PPP1R18 / 6 / 30653737 / c.59C>T / p.Ala20Val / rs567442828 / n/a / n/a / 0.0004 / 20.6 / 5.56 / 64 / D / PrD / n/a
NRM / 6 / 30657112 / c.448C>A / p.Leu150Ile / rs146569798 / n/a / 0.0004 / 0.0001 / 16.55 / 4.72 / 5 / T / PrD / n/a
MDC1 / 6 / 30670557 / c.5963G>T / p.Ser1988Ile / rs372124226 / n/a / n/a / 0.0004 / 15.16 / 5.36 / 142 / D / PrD / n/a
MDC1 / 6 / 30673779 / c.3181C>T / p.Leu1061Phe / rs371196706 / n/a / n/a / 0.0004 / 13.62 / -5.52 / 22 / T / PrD / n/a
MDC1 / 6 / 30679197 / c.2213A>G / p.Gln738Arg / rs145055079 / n/a / 0.0005 / 0.0005 / 17.06 / 0.709 / 43 / D / B / n/a
MDC1 / 6 / 30679443 / c.2128+1G>A / n/a / None / n/a / n/a / n/a / 14.1 / 4.49 / n/a / n/a / n/a / n/a
MDC1 / 6 / 30681960 / c.137A>G / p.Asp46Gly / rs552747832 / n/a / n/a / 4.26x10-5 / 18.62 / 5.55 / 94 / D / PrD / n/a
FLOT1 / 6 / 30698242 / c.1052C>T / p.Ala351Val / rs141726704 / 0.0005 / 0.0003 / 0.0001 / 17.93 / 4.68 / 64 / D / B / n/a
DDR1 / 6 / 30863231 / c.1564C>T / p.Arg522Cys / None / n/a / n/a / 1.65x10-5 / 19.4 / 4.95 / 180 / D / PrD / n/a
DDR1 / 6 / 30864797 / c.1876C>G / p.Leu626Val / None / n/a / n/a / 2.47x10-5 / 17.41 / 3.15 / 103 / D / PrD / n/a
GTF2H4 / 6 / 30877268 / c.194C>T / p.Pro65Leu / None / n/a / n/a / n/a / 31 / 4.96 / 98 / D / PrD / paternal
GTF2H4 / 6 / 30877723 / c.257G>A / p.Ser86Asn / None / n/a / n/a / 4.25x10-5 / 17.34 / 5.7 / 46 / D / B / n/a
VARS2 / 6 / 30882635 / c.112T>C / p.Ser38Pro / None / n/a / n/a / n/a / 13.41 / -3.23 / 74 / D / B / n/a
VARS2 / 6 / 30887547 / c.1177C>T / p.Arg393* / rs578118592 / n/a / n/a / n/a / 44 / 4.51 / n/a / n/a / n/a / n/a
VARS2 / 6 / 30892129 / c.2557-2A>G / n/a / rs200075594 / n/a / 0.0001 / 0.0002 / 14.21 / 5.34 / n/a / n/a / n/a / n/a
VARS2 / 6 / 30893675 / c.3070A>G / p.Ile1024Val / rs201758263 / n/a / n/a / 0.0006 / 10.07 / -6.12 / 29 / T / B / maternal*
DPCR1 / 6 / 30916627 / c.386G>T / p.Gly129Val / rs564525731 / n/a / n/a / 0.0002 / 14.56 / 2.54 / 109 / D / PrD / n/a
DPCR1 / 6 / 30916672 / c.431A>C / p.Asp144Ala / None / n/a / n/a / 0.0001 / 12.72 / -0.962 / 126 / T / PsD / n/a
MUC21 / 6 / 30954304 / c.352A>G / p.Ser118Gly / rs77433662 / n/a / n/a / 4.95x10-5 / 13.15 / 2.11 / 56 / T / PrD / n/a
MUC21 / 6 / 30954347 / c.395C>T / p.Ala132Val / rs144625089 / n/a / n/a / 8.25x10-6 / 10.74 / 2.1 / 64 / T / B / n/a
MUC21 / 6 / 30954443 / c.491C>T / p.Thr164Ile / None / n/a / n/a / n/a / 11.2 / 1.89 / 89 / D / PsD / n/a
MUC21 / 6 / 30955070 / c.1118G>A / p.Ser373Asn / rs56329316 / n/a / n/a / n/a / 11.51 / -2.9 / 46 / T / PsD / n/a
MUC21 / 6 / 30955108 / c.1156G>A / p.Gly386Arg / rs201444918 / n/a / n/a / n/a / 10.73 / 1.45 / 125 / D / B / n/a
CDSN / 6 / 31085063 / c.329C>T / p.Thr110Met / None / n/a / n/a / 0.0001 / 14.81 / 4.45 / 81 / D / PrD / n/a
CCHCR1 / 6 / 31111107 / c.2251C>G / p.Arg751Gly / None / n/a / n/a / 3.39x10-5 / 17.84 / 2.38 / 125 / D / PrD / n/a
CCHCR1 / 6 / 31112822 / c.1905G>C / p.Lys635Asn / None / n/a / n/a / n/a / 17.07 / 4.05 / 94 / D / PsD / n/a
CCHCR1 / 6 / 31112993 / c.1826A>C / p.Gln609Pro / rs552019115 / n/a / n/a / 0.0003 / 19.05 / 4.05 / 76 / D / PrD / n/a
CCHCR1 / 6 / 31118258 / c.1186C>A / p.Leu396Met / rs149536502 / n/a / 0.0001 / 0.0001 / 12.02 / 3.76 / 15 / T / B / n/a
CCHCR1 / 6 / 31118824 / c.877C>G / p.Leu293Val / None / n/a / n/a / n/a / 10.3 / 1.32 / 32 / T / PsD / n/a
MICB / 6 / 31474043 / c.449C>T / p.Ser150Leu / rs200513000 / n/a / 0.0002 / 0.0001 / 16.28 / 1.61 / 145 / D / B / n/a
MCCD1 / 6 / 31497551 / c.199C>A / p.Leu67Met / None / n/a / n/a / 2.56x10-5 / 13.73 / 3.75 / 15 / D / PrD / n/a
NFKBIL1 / 6 / 31516172 / c.290A>G / p.His97Arg / None / n/a / n/a / n/a / 13.94 / -0.292 / 29 / T / B / n/a
NFKBIL1 / 6 / 31526039 / c.797A>C / p.Gln266Pro / None / n/a / n/a / n/a / 13.14 / 2.15 / 76 / D / B / n/a
NFKBIL1 / 6 / 31526104 / c.862G>A / p.Gly288Arg / None / n/a / n/a / n/a / 13.46 / 2.62 / 125 / D / B / n/a
All AF / Scores / Predictions
Gene / Chr / Position / cDNA
Change / Protein
Change / rs ID / 1000
Genomes / EVS / ExAC / CADD
Scaled / GERP / Grantham / SIFT† / Polyphen2‡ / Transmission
NFKBIL1 / 6 / 31526276 / c.1034G>A / p.Arg345His / rs201771654 / n/a / 0.0001 / 0.0001 / 18.54 / 4.91 / 29 / D / B / n/a
TNF / 6 / 31543679 / c.161G>A / p.Gly54Glu / None / n/a / n/a / 3.30x10-5 / 15.64 / 5.77 / 98 / D / B / n/a
AIF1 / 6 / 31583111 / c.5G>A / p.Ser2Asn / rs149533361 / n/a / 0.0001 / 3.30x10-5 / 15.73 / 3.53 / 46 / D / B / n/a
PRRC2A / 6 / 31591680 / c.284C>A / p.Pro95His / None / n/a / n/a / n/a / 13.68 / 5.2 / 77 / D / PrD / n/a
PRRC2A / 6 / 31593323 / c.694C>T / p.Arg232Trp / rs142466078 / n/a / 0.0002 / 0.0001 / 13.39 / 5.06 / 101 / D / B / n/a
PRRC2A / 6 / 31602074 / c.4781C>G / p.Pro1594Arg / rs144034863 / n/a / 0.0009 / 0.0002 / 12.97 / 5.31 / 103 / D / B / n/a
ABHD16A / 6 / 31670982 / c.77C>T / p.Pro26Leu / rs145717144 / n/a / 0.0002 / 0.0004 / 13.44 / 2.11 / 98 / T / B / n/a
LY6G6F / 6 / 31675453 / c.271T>A / p.Leu91Met / rs367817043 / n/a / n/a / n/a / 13.5 / -4.05 / 15 / D / PrD / n/a
LY6G6C / 6 / 31687010 / c.241C>T / p.Arg81Cys / rs146065888 / 0.0009 / 0.0003 / 0.0001 / 14.72 / 1.24 / 180 / D / PrD / n/a
CLIC1 / 6 / 31701944 / c.136G>A / p.Val46Ile / None / n/a / n/a / n/a / 19.76 / 5.54 / 29 / T / B / n/a
MSH5 / 6 / 31711701 / c.436C>T / p.Arg146Cys / rs141863919 / n/a / 0.0001 / 0.0001 / 23.1 / 5.87 / 180 / D / PrD / n/a
MSH5 / 6 / 31727677 / c.1661G>C / p.Ser554Thr / rs370037482 / n/a / 0.0002 / 4.12x10-5 / 13.96 / 4.1 / 58 / T / B / n/a
VWA7 / 6 / 31735513 / c.1522C>G / p.Pro508Ala / None / n/a / n/a / n/a / 12.4 / 4.95 / 27 / T / PsD / n/a
VARS / 6 / 31749681 / c.2290C>T / p.Arg764Trp / rs55786236 / n/a / n/a / 8.31x10-6 / 19.18 / 4.7 / 101 / D / PrD / n/a
VARS / 6 / 31760842 / c.443T>G / p.Leu148Arg / None / n/a / n/a / 8.42x10-6 / 14.72 / 3.77 / 102 / D / PsD / n/a
HSPA1L / 6 / 31779592 / c.158T>G / p.Ile53Ser / rs141349016 / n/a / n/a / n/a / 10.42 / 3.36 / 142 / D / PsD / paternal
NEU1 / 6 / 31828392 / c.622C>T / p.Arg208Trp / None / n/a / n/a / 1.65x10-5 / 11.45 / 3.22 / 101 / T / B / n/a
EHMT2 / 6 / 31847926 / c.3568G>C / p.Ala1190Pro / rs138960077 / n/a / 0.0001 / 0.0001 / 25.1 / 4.58 / 27 / D / PrD / n/a
EHMT2 / 6 / 31856023 / c.1540C>T / p.Arg514Cys / rs139432784 / n/a / 0.0001 / n/a / 17.69 / 4.56 / 180 / D / PrD / n/a
EHMT2 / 6 / 31857035 / c.1084C>T / p.Arg362Trp / None / n/a / n/a / 2.52x10-5 / 17.82 / 3.25 / 101 / D / PrD / n/a
ZBTB12 / 6 / 31868630 / c.453G>C / p.Lys151Asn / rs372529427 / n/a / 0.0001 / 4.12x10-5 / 11.05 / 3.47 / 94 / T / B / n/a
C2 / 6 / 31902024 / c.797C>G / p.Ser266Trp / rs116568722 / 0.0005 / 0.0002 / 0.0002 / 15.27 / -0.506 / 177 / D / PrD / n/a
C2 / 6 / 31903779 / c.929A>G / p.Asn310Ser / rs144201432 / n/a / 0.0006 / 0.0006 / 11.39 / -1.49 / 46 / T / B / n/a
C2 / 6 / 31913016 / c.2141G>A / p.Arg714His / None / n/a / n/a / 2.55x10-5 / 18.34 / 3.76 / 29 / T / PrD / n/a
SKIV2L / 6 / 31928227 / c.373A>G / p.Asn125Asp / rs149150657 / n/a / 0.0002 / 2.47x10-5 / 12.16 / 2.48 / 23 / T / B / n/a
SKIV2L / 6 / 31932087 / c.1939G>A / p.Val647Met / None / n/a / n/a / 8.43x10-6 / 22.1 / 5.95 / 21 / D / PrD / n/a
DXO / 6 / 31939119 / c.334G>T / p.Glu112* / None / n/a / n/a / n/a / 36 / 5.13 / n/a / n/a / n/a / n/a
CYP21A2 / 6 / 32007203 / c.518T>A / p.Ile173Asn / rs6475 / n/a / n/a / 0.0004 / 21.5 / 4.97 / 149 / D / n/a / n/a
TNXB / 6 / 32021216 / c.8734G>A / p.Gly2912Ser / rs200708257 / n/a / 0.0004 / 0.0007 / 23.9 / 4.39 / 56 / D / PrD / n/a
TNXB / 6 / 32035582 / c.6400G>A / p.Gly2134Arg / None / n/a / n/a / 0.0001 / 21.9 / 4.43 / 125 / D / PrD / n/a
TNXB / 6 / 32035620 / c.6362G>A / p.Arg2121His / None / n/a / n/a / 3.31x10-5 / 12.73 / 0.821 / 29 / D / B / n/a
TNXB / 6 / 32052313 / c.3322G>A / p.Val1108Met / rs121912575 / n/a / 0.0006 / 0.0007 / 14.97 / 4.09 / 21 / D / PrD / n/a
TNXB / 6 / 32056708 / c.2633G>A / p.Gly878Asp / rs201647307 / n/a / 0.0009 / 0.0006 / 18.89 / 5.42 / 94 / T / PrD / n/a
ATF6B / 6 / 32084268 / c.1871T>A / p.Met624Lys / None / n/a / n/a / n/a / 23 / 5.45 / 95 / D / PrD / n/a
ATF6B / 6 / 32087734 / c.833T>A / p.Val278Glu / rs147690748 / n/a / 0.0002 / 0.0003 / 16.86 / 3.84 / 121 / T / PrD / n/a
ATF6B / 6 / 32095523 / c.96C>G / p.Ser32Arg / None / n/a / n/a / n/a / 15.89 / 3.96 / 110 / T / B / paternal
FKBPL / 6 / 32096628 / c.930G>C / p.Lys310Asn / None / n/a / n/a / 1.65x10-5 / 14.05 / 5.75 / 94 / D / B / n/a
PRRT1 / 6 / 32118360 / c.343G>A / p.Glu115Lys / None / n/a / n/a / n/a / 20.9 / 2.83 / 56 / D / B / n/a
PRRT1 / 6 / 32118446 / c.257A>C / p.His86Pro / None / n/a / n/a / n/a / 12.41 / 3.78 / 77 / D / B / n/a
EGFL8 / 6 / 32135005 / c.572C>T / p.Pro191Leu / rs146243012 / n/a / 0.001 / 0.001 / 13.27 / 4.83 / 98 / T / B / n/a
EGFL8 / 6 / 32135022 / c.589C>T / p.Leu197Phe / rs573606082 / n/a / n/a / 3.40x10-5 / 13.41 / 5.74 / 22 / T / PrD / paternal
RNF5 / 6 / 32147867 / c.409G>A / p.Val137Ile / None / n/a / n/a / 3.30x10-5 / 15.25 / 4.5 / 29 / T / PsD / n/a
AGER / 6 / 32150617 / c.691+1G>A / n/a / None / n/a / n/a / n/a / 15.96 / 4.92 / n/a / n/a / n/a / n/a
AGER / 6 / 32151427 / c.260C>T / p.Pro87Leu / None / n/a / n/a / 0.0001 / 18.49 / 4.95 / 98 / T / PrD / n/a
All AF / Scores / Predictions
Gene / Chr / Position / cDNA
Change / Protein
Change / rs ID / 1000
Genomes / EVS / ExAC / CADD
Scaled / GERP / Grantham / SIFT† / Polyphen2‡ / Transmission
PBX2 / 6 / 32154651 / c.1052G>A / p.Gly351Glu / rs372961290 / n/a / 0.0001 / 0.0005 / 22.9 / 4.99 / 98 / D / PsD / n/a
NOTCH4 / 6 / 32166740 / c.4498C>T / p.Arg1500Cys / None / n/a / n/a / n/a / 20.3 / 5.43 / 180 / D / PsD / n/a
NOTCH4 / 6 / 32178560 / c.2834G>A / p.Cys945Tyr / rs144858053 / n/a / 0.0007 / 0.0003 / 18.88 / 4.9 / 194 / D / PrD / n/a
NOTCH4 / 6 / 32178663 / c.2731G>T / p.Gly911Cys / rs144069425 / n/a / n/a / 8.53x10-6 / 25.2 / 4.9 / 159 / D / PrD / paternal
NOTCH4 / 6 / 32187516 / c.1363A>G / p.Thr455Ala / rs555339824 / n/a / n/a / 0.0001 / 18.34 / 3.7 / 58 / T / B / n/a
NOTCH4 / 6 / 32187954 / c.1267G>A / p.Gly423Ser / None / n/a / n/a / n/a / 20.9 / 4.35 / 56 / D / PrD / n/a
NOTCH4 / 6 / 32188188 / c.1153C>T / p.Arg385Cys / rs370312303 / n/a / 0.0001 / 4.95x10-5 / 17.87 / 4.36 / 180 / D / PrD / n/a
C6orf10 / 6 / 32260936 / c.1514G>A / p.Arg505Lys / None / n/a / n/a / 0.0001 / 11.19 / -5.31 / 26 / T / B / maternal*
BTNL2 / 6 / 32373060 / c.83A>T / p.Asp28Val / rs375897659 / n/a / 0.0001 / 0.0001 / 11.83 / 3.73 / 152 / D / PrD / n/a
TAP2 / 6 / 32796693 / c.2051C>T / p.Ala684Val / rs184698711 / 0.0005 / n/a / 3.29x10-5 / 10.77 / -2.79 / 64 / T / B / n/a
TAP2 / 6 / 32798091 / c.1588G>A / p.Asp530Asn / rs140969189 / n/a / 0.0001 / 0.0003 / 22 / 5.4 / 23 / D / PrD / n/a
PSMB8 / 6 / 32810821 / c.193G>A / p.Val65Ile / None / n/a / n/a / n/a / 15.94 / 2.07 / 29 / T / B / n/a
TAP1 / 6 / 32821395 / c.199C>T / p.Pro67Ser / rs375389015 / n/a / n/a / 3.41x10-5 / 12.18 / 2.14 / 74 / T / PsD / n/a
BRD2 / 6 / 32942523 / c.314C>T / p.Ala105Val / rs138290874 / n/a / 0.0003 / 0.0002 / 32 / 5.16 / 64 / D / PrD / n/a
COL11A2 / 6 / 33131583 / c.5083C>T / p.Arg1695Trp / rs534700620 / n/a / n/a / 0.0001 / 15.21 / 5.12 / 101 / D / B / paternal
COL11A2 / 6 / 33135616 / c.3974C>T / p.Ser1325Leu / rs543145528 / n/a / n/a / 0.0007 / 12.61 / 3.5 / 145 / T / B / n/a
COL11A2 / 6 / 33136324 / c.3932A>G / p.Asn1311Ser / rs727504460 / n/a / n/a / 0.0001 / 13.82 / 4.25 / 46 / T / B / n/a
SLC39A7 / 6 / 33169076 / c.54G>A / p.Trp18* / rs564702689 / n/a / n/a / n/a / 28.6 / 3.41 / n/a / n/a / n/a / n/a
HSD17B8 / 6 / 33172784 / c.158G>T / p.Arg53Leu / rs367755157 / n/a / n/a / 0.0005 / 14.87 / 1.62 / 102 / T / B / n/a
RING1 / 6 / 33178981 / c.502A>G / p.Thr168Ala / None / n/a / n/a / 8.49x10-6 / 13.79 / 4.16 / 58 / T / PsD / n/a
WDR46 / 6 / 33248543 / c.1337T>G / p.Leu446Arg / None / n/a / n/a / n/a / 18.99 / 4.2 / 102 / T / PsD / n/a
RGL2 / 6 / 33260932 / c.1868C>T / p.Pro623Leu / None / n/a / n/a / 8.24x10-6 / 16.93 / 4.6 / 98 / T / PsD / n/a
DAXX / 6 / 33288794 / c.758T>C / p.Ile253Thr / None / n/a / n/a / n/a / 13.06 / 3.5 / 89 / T / PsD / n/a
KIFC1 / 6 / 33373997 / c.1561C>T / p.Arg521Cys / rs150930868 / 0.0009 / 0.0006 / 0.0006 / 16.97 / 4.41 / 180 / D / PrD / n/a
ITPR3 / 6 / 33626828 / c.559C>T / p.Pro187Ser / rs571328324 / n/a / n/a / 0.0001 / 26.8 / 4.6 / 74 / T / PrD / n/a
ITPR3 / 6 / 33631608 / c.1099T>C / p.Phe367Leu / None / n/a / n/a / n/a / 35 / 4.74 / 22 / D / PrD / n/a
ITPR3 / 6 / 33632887 / c.1306G>A / p.Val436Met / rs200523487 / 0.0005 / n/a / 8.24x10-6 / 12.22 / 4.53 / 21 / D / PsD / n/a
ITPR3 / 6 / 33634933 / c.1579C>T / p.Arg527Cys / rs139434169 / n/a / 0.0005 / 0.0002 / 16.61 / 3.57 / 180 / T / PsD / n/a
ITPR3 / 6 / 33638551 / c.2545G>A / p.Val849Met / rs200072171 / 0.0005 / 0.0002 / 0.0001 / 11.6 / 4.69 / 21 / T / B / n/a
ITPR3 / 6 / 33638948 / c.2593A>C / p.Ser865Arg / rs202195536 / n/a / 0.0002 / 0.0001 / 29.8 / 5.15 / 110 / D / PsD / paternal
ITPR3 / 6 / 33638949 / c.2594G>T / p.Ser865Ile / rs199987334 / n/a / 0.0002 / 0.0001 / 26.8 / 5.15 / 142 / D / PrD / paternal
ITPR3 / 6 / 33645383 / c.3625C>A / p.Leu1209Met / None / n/a / n/a / n/a / 29.9 / 5.5 / 15 / D / PrD / maternal*
ITPR3 / 6 / 33651158 / c.4772T>C / p.Ile1591Thr / rs151124791 / 0.0005 / 0.0006 / 0.0003 / 23.6 / 4.71 / 89 / D / PsD / n/a
ITPR3 / 6 / 33659592 / c.7345G>A / p.Asp2449Asn / None / n/a / n/a / 2.47x10-5 / 18.45 / 4.56 / 23 / D / B / n/a
IP6K3 / 6 / 33696007 / c.270G>T / p.Glu90Asp / None / n/a / n/a / 8.24x10-6 / 11.73 / 3.74 / 45 / T / B / n/a
LEMD2 / 6 / 33746037 / c.1138G>A / p.Val380Met / None / n/a / n/a / n/a / 14.41 / 2.9 / 21 / T / B / n/a
LEMD2 / 6 / 33756785 / c.109C>T / p.Arg37Cys / None / n/a / n/a / n/a / 21.4 / 3.88 / 180 / T / B / n/a
GRM4 / 6 / 34003561 / c.2326G>A / p.Gly776Ser / None / n/a / n/a / 3.30x10-5 / 26 / 4.47 / 56 / T / PrD / n/a
GRM4 / 6 / 34008387 / c.1307C>T / p.Pro436Leu / None / n/a / n/a / 3.30x10-5 / 16.46 / 4.39 / 98 / D / PsD / n/a
GRM4 / 6 / 34100811 / c.463G>A / p.Gly155Ser / None / n/a / n/a / n/a / 30 / 4.29 / 56 / D / PrD / n/a
GRM4 / 6 / 34122896 / c.272A>C / p.Asp91Ala / None / n/a / n/a / 0.0008 / 13.26 / -0.51 / 126 / T / n/a
PACSIN1 / 6 / 34499421 / c.1082C>G / p.Ser361* / None / n/a / n/a / n/a / 40 / 4.94 / n/a / n/a / n/a / n/a
SPDEF / 6 / 34511830 / c.403G>A / p.Glu135Lys / rs146713427 / n/a / 0.0002 / 0.0003 / 26.3 / 3.32 / 56 / D / PsD / n/a
SNRPC / 6 / 34735765 / c.241C>A / p.Pro81Thr / rs139798034 / n/a / 0.0003 / 0.0003 / 16.41 / 5.55 / 38 / T / B / n/a
All AF / Scores / Predictions
Gene / Chr / Position / cDNA
Change / Protein
Change / rs ID / 1000
Genomes / EVS / ExAC / CADD
Scaled / GERP / Grantham / SIFT† / Polyphen2‡ / Transmission
UHRF1BP1 / 6 / 34803170 / c.769G>A / p.Ala257Thr / rs201149774 / n/a / 0.0004 / 0.0007 / 36 / 4.46 / 58 / D / PrD / n/a
ANKS1A / 6 / 34857324 / c.145G>A / p.Gly49Ser / None / n/a / n/a / 1.20x10-5 / 16.03 / 1.53 / 56 / T / B / n/a
TCP11 / 6 / 35088096 / c.994C>T / p.Arg332Trp / rs199729611 / n/a / 0.0001 / 4.12x10-5 / 17.34 / 3.23 / 101 / D / PrD / n/a
TCP11 / 6 / 35103911 / c.248T>C / p.Met83Thr / None / n/a / n/a / 2.48x10-5 / 12.94 / -4.03 / 81 / T / B / n/a
SCUBE3 / 6 / 35210046 / c.1483C>T / p.His495Tyr / None / n/a / n/a / 8.24x10-6 / 14.23 / 4.97 / 83 / D / PrD / n/a
ZNF76 / 6 / 35260703 / c.1211T>G / p.Ile404Arg / rs143617625 / n/a / 0.0002 / 4.12x10-5 / 14.1 / 4.73 / 97 / D / PsD / n/a
ZNF76 / 6 / 35262239 / c.1501A>G / p.Ile501Val / rs115279302 / 0.0005 / 0.0004 / 0.0001 / 16.19 / 5.62 / 29 / D / PsD / n/a
ZNF76 / 6 / 35262282 / c.1544C>T / p.Ala515Val / rs140919708 / n/a / 0.0002 / 0.0002 / 14.09 / 5.09 / 64 / T / B / n/a
FANCE / 6 / 35420353 / c.31G>A / p.Ala11Thr / None / n/a / n/a / 0.0001 / 19.79 / -3.69 / 58 / D / B / n/a
FANCE / 6 / 35420387 / c.65T>C / p.Leu22Pro / None / n/a / n/a / n/a / 24.1 / 4.52 / 98 / D / PrD / n/a
FANCE / 6 / 35426122 / c.1018G>C / p.Gly340Arg / rs45524646 / 0.0005 / 0.0005 / 0.0002 / 11.91 / 3.6 / 125 / T / PrD / n/a
TULP1 / 6 / 35473904 / c.875G>A / p.Arg292Gln / rs140460892 / n/a / 0.0002 / 0.0001 / 14.24 / -3.43 / 43 / T / B / n/a
FKBP5 / 6 / 35565058 / c.632G>A / p.Arg211Gln / rs142925622 / n/a / 0.0006 / 0.0005 / 22.8 / 5.05 / 43 / T / PrD / n/a
FKBP5 / 6 / 35604934 / c.107T>C / p.Ile36Thr / rs149315947 / n/a / 0.0002 / 0.0004 / 15.15 / 5.38 / 89 / T / PsD / n/a
CLPS / 6 / 35762985 / c.277G>A / p.Val93Met / rs150755879 / n/a / 0.0008 / 0.0002 / 11.07 / 0.261 / 21 / D / PrD / n/a
C6orf222 / 6 / 36287159 / c.1897C>T / p.Gln633* / rs373725892 / n/a / 0.0001 / 0.0001 / 36 / 2.77 / n/a / n/a / n/a / n/a
C6orf222 / 6 / 36293144 / c.1084G>A / p.Ala362Thr / rs367959650 / n/a / 0.0001 / 0.0001 / 13.87 / -1.99 / 58 / T / B / n/a
C6orf222 / 6 / 36294481 / c.842C>A / p.Ala281Asp / rs201345909 / n/a / 0.0001 / 0.0008 / 13.32 / -5.63 / 126 / T / PrD / n/a
C6orf222 / 6 / 36298217 / c.251T>G / p.Phe84Cys / rs148041768 / n/a / 0.0002 / 0.0001 / 13.56 / -0.681 / 205 / D / B / n/a
ZBTB24 / 6 / 109803177 / c.53C>T / p.Ala18Val / None / n/a / n/a / n/a / 14.32 / 4.81 / 64 / T / B / n/a
LAMA2 / 6 / 129674481 / c.4696C>T / p.Arg1566Cys / None / n/a / n/a / 4.12x10-5 / 15.13 / 4.88 / 180 / D / B / n/a
LAMA2 / 6 / 129824402 / c.8524A>G / p.Ile2842Val / rs140178576 / 0.0005 / n/a / 0.0001 / 18.88 / 5.86 / 29 / T / PrD / n/a
LAMA2 / 6 / 129833540 / c.8890G>T / p.Val2964Leu / rs202159946 / n/a / n/a / 4.94x10-5 / 15.57 / 3.01 / 32 / D / B / n/a
LAMA2 / 6 / 129835530 / c.9001G>C / p.Val3001Leu / rs189360899 / 0.0009 / 0.0002 / 0.0001 / 17.45 / 4.72 / 32 / D / PrD / n/a
LAMA2 / 6 / 129835552 / c.9023T>C / p.Phe3008Ser / None / n/a / n/a / 8.24x10-6 / 19.82 / 5.59 / 155 / D / PrD / n/a
HIVEP2 / 6 / 143093322 / c.2554C>T / p.Pro852Ser / rs374943743 / n/a / 0.0001 / 0.0001 / 11.51 / 2.27 / 74 / T / B / n/a
HIVEP2 / 6 / 143095100 / c.776A>G / p.Asp259Gly / rs202020297 / n/a / 0.001 / 0.0008 / 14.49 / 5.81 / 94 / T / PrD / n/a
HIVEP2 / 6 / 143095508 / c.368C>T / p.Pro123Leu / rs368327248 / n/a / n/a / 4.13x10-5 / 12.48 / 5.54 / 98 / T / PsD / n/a
STX11 / 6 / 144508528 / c.764A>G / p.Tyr255Cys / None / n/a / n/a / 1.65x10-5 / 15.36 / 5.72 / 194 / T / PsD / n/a
CARD11 / 7 / 2958135 / c.2597G>A / p.Arg866Gln / rs150990488 / n/a / 0.0002 / 1.18x10-5 / 11.4 / 1.83 / 43 / D / PsD / n/a
CARD11 / 7 / 2984040 / c.490A>C / p.Lys164Gln / None / n/a / n/a / 8.24x10-6 / 15.67 / 4.38 / 53 / T / B / n/a
PMS2 / 7 / 6031639 / c.953A>G / p.Tyr318Cys / rs139438201 / n/a / 0.0004 / 0.0004 / 16.74 / 5.4 / 194 / D / PrD / n/a
IKZF1 / 7 / 50459525 / c.553G>A / p.Ala185Thr / None / n/a / n/a / 1.66x10-5 / 14.67 / 5.23 / 58 / T / B / n/a
GNAI1 / 7 / 79764526 / c.50A>G / p.Lys17Arg / rs554748156 / n/a / n/a / 0.0001 / 14.5 / 2.74 / 26 / T / B / n/a
GNAI1 / 7 / 79818494 / c.250A>G / p.Ile84Val / None / n/a / n/a / n/a / 18.3 / 6.04 / 29 / D / B / n/a
GNAI1 / 7 / 79818540 / c.296C>A / p.Ala99Asp / None / n/a / n/a / 8.24x10-6 / 10.2 / 6.04 / 126 / T / B / n/a
ABCB1 / 7 / 87148681 / c.2888T>C / p.Leu963Ser / None / n/a / n/a / n/a / 21.2 / 4.61 / 145 / D / PrD / n/a
ABCB1 / 7 / 87165800 / c.2455G>A / p.Ala819Thr / rs200754866 / n/a / n/a / 2.47x10-5 / 34 / 5.64 / 58 / D / PrD / n/a
ABCB1 / 7 / 87174218 / 1985T>G / p.Leu662Arg / rs35657960 / 0.0005 / 0.0003 / 0.0003 / 12.33 / 2.99 / 102 / T / B / paternal
ABCB1 / 7 / 87179891 / c.1117C>G / p.Pro373Ala / rs143333791 / n/a / 0.0001 / 1.65x10-5 / 14.06 / 5.17 / 27 / D / PrD / n/a
ABCB1 / 7 / 87180049 / c.1105A>G / p.Ile369Val / rs199766539 / n/a / 0.0002 / 0.0002 / 22 / 6.17 / 29 / D / B / n/a
PIK3CG / 7 / 106520027 / c.2455G>A / p.Asp819Asn / rs370034420 / n/a / 0.0002 / 0.0001 / 22.3 / 4.62 / 23 / D / PsD / n/a
PIK3CG / 7 / 106545561 / c.3038G>C / p.Cys1013Ser / None / n/a / n/a / n/a / 25.2 / 5.94 / 112 / D / PrD / n/a
PTN / 7 / 136938241 / c.259A>T / p.Ile87Phe / None / n/a / n/a / 2.47x10-5 / 26.6 / 4.2 / 21 / D / PrD / n/a
All AF / Scores / Predictions
Gene / Chr / Position / cDNA
Change / Protein
Change / rs ID / 1000
Genomes / EVS / ExAC / CADD
Scaled / GERP / Grantham / SIFT† / Polyphen2‡ / Transmission
IKBKB / 8 / 42178259 / c.1585G>A / p.Glu529Lys / rs147186110 / 0.0005 / 0.0002 / 0.0002 / 17.45 / 5.43 / 56 / T / B / n/a
PRKDC / 8 / 48744460 / c.8180G>A / p.Asp2727Asn / None / n/a / n/a / 8.27x10-6 / 17.91 / 4.54 / 23 / T / PrD / n/a
CHD7 / 8 / 61655179 / c.1188G>T / p.Met396Ile / rs201653177 / n/a / 0.0006 / 0.0003 / 14 / 5.67 / 10 / D / PsD / n/a
CHD7 / 8 / 61693778 / c.1885C>G / p.Leu629Val / None / n/a / n/a / n/a / 15.01 / 4.35 / 32 / D / B / n/a
CHD7 / 8 / 61714146 / c.2436A>T / p.Lys812Asn / rs61978638 / 0.0005 / 0.0008 / 0.0002 / 15.37 / 5.03 / 94 / D / B / n/a
CHD7 / 8 / 61768682 / c.7085G>A / p.Ser2362Asn / rs139876661 / 0.0009 / 0.0002 / 0.0001 / 26 / 5.02 / 46 / T / PsD / n/a
IL7 / 8 / 79717150 / c.8A>G / p.His3Arg / rs574974793 / n/a / n/a / 0.0006 / 17.52 / 4.86 / 29 / D / PrD / n/a
NBN / 8 / 90993017 / c.425A>G / p.Asn142Ser / rs769414 / n/a / 0.0001 / 0.0001 / 11.05 / -1.19 / 46 / T / B / n/a
VPS13B / 8 / 100128031 / c.866T>G / p.Ile289Arg / None / n/a / n/a / 8.24x10-6 / 23 / 5.65 / 97 / D / PrD / n/a
VPS13B / 8 / 100147926 / c.1528C>T / p.Arg510Cys / rs139141291 / 0.0009 / 0.0004 / 0.0001 / 17.98 / 4.48 / 180 / D / B / n/a
VPS13B / 8 / 100148968 / c.1639A>G / p.Thr547Ala / rs142971568 / n/a / 0.0002 / 0.0003 / 10.46 / 2.57 / 58 / T / B / n/a
VPS13B / 8 / 100155250 / c.1700G>A / p.Gly567Glu / rs141046414 / n/a / 0.0003 / 0.0004 / 14.78 / 3.61 / 98 / T / B / n/a
VPS13B / 8 / 100160206 / c.1981G>A / p.Asp661Asn / rs149334616 / 0.0009 / 0.0005 / 0.0004 / 14.88 / 3.32 / 23 / D / B / paternal
VPS13B / 8 / 100286506 / c.2596G>A / p.Val866Ile / rs150185067 / n/a / 0.0005 / 0.0007 / 20.6 / 5.65 / 29 / T / PrD / n/a
VPS13B / 8 / 100454807 / c.3389A>T / p.Tyr1130Phe / None / n/a / n/a / 8.24x10-6 / 13.8 / 1.95 / 22 / T / PsD / n/a
VPS13B / 8 / 100654559 / c.5741G>A / p.Arg1914Gln / rs150272676 / n/a / 0.0001 / 0.0007 / 35 / 5.8 / 43 / D / PrD / n/a
VPS13B / 8 / 100673645 / c.5972G>A / p.Gly1991Glu / None / n/a / n/a / n/a / 28.5 / 5.56 / 98 / D / PrD / n/a
VPS13B / 8 / 100791204 / c.7724A>T / p.Asn2575Ile / rs549157416 / n/a / n/a / n/a / 12.49 / 4.47 / 149 / T / B / n/a
VPS13B / 8 / 100865816 / c.10199C>T / p.Pro3400Leu / rs368041601 / n/a / 0.0001 / 4.94x10-5 / 17.65 / 5.43 / 98 / D / PrD / n/a
DOCK8 / 9 / 404946 / c.3263C>T / p.Thr1088Met / rs149065013 / n/a / 0.0002 / 0.0001 / 11.94 / -1.29 / 81 / D / B / n/a
DOCK8 / 9 / 426926 / c.4283A>G / p.Asn1428Ser / rs150057289 / n/a / 0.0003 / 0.0002 / 17.35 / 5.8 / 46 / T / B / n/a
C5 / 9 / 123744145 / c.3463G>A / p.Ala1155Thr / rs200624729 / n/a / n/a / 0.0004 / 20.2 / 2.64 / 58 / D / PsD / n/a
C5 / 9 / 123779705 / c.1801G>A / p.Ala601Thr / None / n/a / n/a / 3.30x10-5 / 26.4 / 5.93 / 58 / D / PrD / n/a
CARD9 / 9 / 139265477 / c.443G>A / p.Arg148Gln / None / n/a / n/a / 8.26x10-6 / 10.69 / 4.72 / 43 / T / B / n/a
IL2RA / 10 / 6061427 / c.691G>C / p.Glu231Gln / rs150060415 / n/a / 0.0007 / 0.0002 / 15.23 / 3.46 / 29 / T / PrD / n/a
DCLRE1C / 10 / 14950816 / c.1670C>T / p.Thr557Ile / None / n/a / n/a / 0.0001 / 23.8 / 5.93 / 89 / D / PrD / n/a
CXCL12 / 10 / 44874095 / c.256G>A / p.Ala86Thr / rs151112059 / 0.0005 / 0.0005 / 0.0002 / 16.86 / 4.46 / 58 / D / B / n/a
CXCL12 / 10 / 44876308 / c.82T>A / p.Tyr28Asn / None / n/a / n/a / n/a / 19.1 / 5.47 / 143 / T / PrD / n/a
TCF7L2 / 10 / 114724358 / c.425C>T / p.Thr142Met / rs200865074 / n/a / 0.0002 / 2.49x10-5 / 15.87 / 3.74 / 81 / T / B / maternal*
CD81 / 11 / 2411736 / c.161C>T / p.Ala54Val / rs368611423 / n/a / 0.0001 / 4.12x10-5 / 18.84 / 2.53 / 64 / D / PrD / n/a
STIM1 / 11 / 4112606 / c.1636G>A / p.Glu546Lys / rs371443357 / n/a / 0.0001 / 3.30x10-5 / 18.21 / 5.26 / 56 / D / PrD / n/a
RAG1 / 11 / 36595360 / c.506C>T / p.Ser169Leu / rs4151027 / 0.0005 / 0.0006 / 0.0001 / 11.37 / 4.12 / 145 / D / B / n/a
SLC35C1 / 11 / 45827381 / c.29G>A / p.Arg10Lys / rs567155861 / n/a / n/a / 0.0001 / 15.11 / 2.18 / 26 / T / B / n/a
SERPING1 / 11 / 57365768 / c.25A>C / p.Thr9Pro / rs201455616 / n/a / 0.0008 / 0.0002 / 20.3 / 2.56 / 38 / D / PrD / n/a
FERMT3 / 11 / 63974940 / c.104G>T / p.Arg35Leu / rs140913422 / n/a / 0.0003 / 0.0002 / 35 / 4.48 / 102 / D / PsD / paternal
RASGRP2 / 11 / 64496365 / c.1741G>A / p.Arg581Cys / rs200196770 / 0.0009 / n/a / 0.0001 / 18.74 / 4.04 / 180 / D / PrD / n/a
RASGRP2 / 11 / 64508959 / c.191G>C / p.Arg64Pro / None / n/a / n/a / n/a / 10.65 / 4.64 / 103 / T / PsD / maternal
UNC93B1 / 11 / 67771419 / c.95C>A / p.Pro32Gln / None / n/a / n/a / n/a / 10.77 / 3.02 / 76 / T / B / n/a
TCIRG1 / 11 / 67808820 / c.82C>T / p.Arg28Trp / rs139397145 / n/a / 0.0007 / 0.0003 / 19.42 / 3.12 / 101 / D / PrD / n/a
TCIRG1 / 11 / 67810184 / c.271C>T / p.Pro91Ser / None / n/a / n/a / n/a / 13.17 / 3.67 / 74 / D / PsD / n/a
TCIRG1 / 11 / 67810221 / c.308G>A / p.Arg103His / None / n/a / n/a / 2.12x10-5 / 24.2 / 3.66 / 29 / D / PrD / n/a
FADD / 11 / 70049806 / c.241G>T / p.Asp81Tyr / None / n/a / n/a / n/a / 17.83 / -0.156 / 160 / D / PrD / n/a
FADD / 11 / 70052503 / c.551G>A / p.Arg184His / rs145623767 / n/a / 0.0001 / 8.24x10-6 / 15.68 / -0.631 / 29 / D / PsD / n/a
EED / 11 / 85977218 / c.820A>G / p.Ile274Val / rs367891435 / n/a / 0.0001 / 0.0001 / 12.03 / 5.36 / 29 / T / B / n/a
All AF / Scores / Predictions
Gene / Chr / Position / cDNA
Change / Protein
Change / rs ID / 1000
Genomes / EVS / ExAC / CADD
Scaled / GERP / Grantham / SIFT† / Polyphen2‡ / Transmission
CTSC / 11 / 88068160 / c.263A>G / p.Tyr88Cys / rs142378484 / n/a / 0.0002 / 0.0002 / 24.4 / 5.84 / 194 / D / PrD / n/a
MRE11A / 11 / 94192594 / c.1480G>A / p.Glu494Lys / rs104895016 / 0.0005 / 0.0002 / 0.0006 / 17.25 / 5.89 / 56 / D / PsD / maternal
MRE11A / 11 / 94209543 / c.571C>T / p.Arg191* / None / n/a / n/a / n/a / 37 / 4.4 / n/a / n/a / n/a / n/a
ATM / 11 / 108106399 / c.334G>A / p.Ala112Thr / rs146382972 / 0.0005 / 0.0008 / 0.0002 / 27.6 / 4.71 / 58 / D / PsD / n/a
ATM / 11 / 108164196 / c.4768C>T / p.Leu1590Phe / rs35962982 / n/a / 0.0001 / 0.0002 / 26.4 / 5.31 / 22 / D / PrD / n/a
ATM / 11 / 108175517 / c.5612C>T / p.Thr1871Ile / rs538452060 / n/a / n/a / 1.65x10-5 / 11.9 / 2.53 / 89 / D / PrD / maternal
ATM / 11 / 108178642 / c.5693G>A / p.Arg1898Gln / rs370680798 / n/a / 0.0001 / 0.0003 / 11.32 / 4.13 / 43 / T / B / n/a
ATM / 11 / 108200949 / c.7316T>C / p.Val2439Ala / None / n/a / n/a / 8.24x10-6 / 14.73 / 4.7 / 64 / T / B / n/a
ATM / 11 / 108204673 / c.7988T>C / p.Val2663Ala / rs377648506 / n/a / 0.0001 / 4.12x10-5 / 12.48 / 5.47 / 64 / T / B / n/a
POU2AF1 / 11 / 111225020 / c.737C>T / p.Ala246Val / rs140834337 / n/a / 0.0003 / 0.0005 / 12.54 / 0.71 / 64 / T / B / n/a
APOA1 / 11 / 116707044 / c.284T>A / p.Phe95Tyr / rs138407155 / 0.0005 / 0.0005 / 0.0005 / 33 / 3.93 / 22 / D / PrD / maternal
IL10RA / 11 / 117869853 / c.1234C>T / p.Arg412Trp / rs143538561 / 0.0005 / 0.0003 / 0.0003 / 16.22 / 3.86 / 101 / D / PsD / n/a
IL10RA / 11 / 117869854 / c.1235G>A / p.Arg412Gln / rs117423374 / 0.0005 / 0.0007 / 0.0005 / 12.64 / -2.66 / 43 / T / B / n/a
CD3G / 11 / 118219742 / c.56G>A / p.Gly19Asp / rs146393315 / 0 / 0.0008 / 0.0006 / 18.08 / 4.49 / 94 / D / PrD / n/a
SLC37A4 / 11 / 118896020 / c.1004G>A / p.Gly335Glu / None / n/a / n/a / n/a / 14.12 / n/a / 98 / n/a / PrD / n/a
SLC37A4 / 11 / 118898491 / c.473T>C / p.Ile158Thr / None / n/a / n/a / n/a / 20.5 / n/a / 89 / n/a / B / n/a
FKBP4 / 12 / 2906410 / c.212T>C / p.Leu71Pro / rs144746421 / n/a / 0.0001 / 8.24x10-6 / 19 / 4.56 / 98 / T / PsD / n/a
FKBP4 / 12 / 2908291 / c.552C>A / p.Asp184Glu / None / n/a / n/a / n/a / 13.85 / 3.36 / 45 / T / PsD / n/a
C1R / 12 / 7244104 / c.175G>A / p.Val59Ile / None / n/a / n/a / 0.0001 / 14.33 / 1.71 / 29 / T / B / n/a
CD163 / 12 / 7639206 / c.2347C>A / p.Leu783Met / None / n/a / n/a / n/a / 17.4 / 5.3 / 15 / D / PrD / n/a
CD163 / 12 / 7651707 / c.535C>T / p.Arg179Trp / rs181334925 / 0.0005 / n/a / 8.24x10-6 / 15.6 / -2.98 / 101 / D / PrD / n/a
AICDA / 12 / 8759595 / c.22C>T / p.Arg8Trp / None / n/a / n/a / 0.0001 / 10.85 / -3.64 / 101 / D / PrD / n/a
KLRG1 / 12 / 9142233 / c.2T>A / p.Met1Lys / None / n/a / n/a / 4.94x10-5 / 13.79 / 1.36 / 95 / D / PsD / n/a
KRAS / 12 / 25368410 / c.535G>A / p.Gly179Ser / rs200970347 / 0.0005 / 0.0001 / 0.0004 / 17.56 / 5.6 / 56 / D / B / n/a
IRAK4 / 12 / 44165084 / c.223G>A / p.Gly75Ser / None / n/a / n/a / 8.24x10-6 / 36 / 6.16 / 56 / D / PrD / n/a
IRAK4 / 12 / 44177508 / c.1169A>G / p.His390Arg / rs4251583 / 0.0005 / n/a / 0.0005 / 15.92 / 5.68 / 29 / D / B / n/a
VDR / 12 / 48238683 / c.1130A>T / p.His377Leu / None / n/a / n/a / n/a / 18.31 / 2.62 / 99 / D / B / n/a
VDR / 12 / 48272845 / c.52C>T / p.Arg18Trp / rs147496897 / n/a / n/a / 0.0003 / 19.22 / 5.58 / 101 / D / PrD / n/a
CCNT1 / 12 / 49087282 / c.1715G>A / p.Arg572His / rs61751602 / 0.0005 / 0.0009 / 0.0005 / 19.53 / 4.96 / 29 / D / PrD / n/a
TARBP2 / 12 / 53897538 / c.368C>T / p.Pro123Leu / None / n/a / n/a / 1.65x10-5 / 14.87 / 1.89 / 98 / T / B / n/a
POLE / 12 / 133226046 / c.3851G>A / p.Arg1284Gln / rs149462407 / n/a / 0.0008 / 0.0006 / 14.38 / 1.25 / 43 / T / B / n/a
POLE / 12 / 133237736 / c.2879A>G / p.Asn960Ser / None / n/a / n/a / 0.0001 / 20.1 / 4.17 / 46 / D / PrD / n/a
POLE / 12 / 133244226 / c.2182C>T / p.Arg728Trp / None / n/a / n/a / n/a / 26.3 / 5.86 / 101 / D / PrD / n/a
POLE / 12 / 133254193 / c.691C>T / p.Arg231Cys / rs146592584 / n/a / 0.0005 / 0.0001 / 28.1 / 5.75 / 180 / D / PrD / maternal
POLE / 12 / 133257248 / c.230G>A / p.Arg77His / None / n/a / n/a / 8.24x10-6 / 15.67 / 4.82 / 29 / D / B / n/a
RNASEH2B / 13 / 51530539 / c.868G>A / p.Asp290Asn / rs201190805 / 0.0005 / 0.0002 / 0.0005 / 28 / 6.06 / 23 / D / PrD / n/a
LIG4 / 13 / 108861395 / c.2222G>A / p.Arg741His / rs143767581 / n/a / 0.0005 / 0.0005 / 13.54 / 3.17 / 29 / T / B / n/a
LIG4 / 13 / 108861861 / c.1756G>C / p.Asp586His / None / n/a / n/a / n/a / 14.7 / 5.74 / 81 / T / B / paternal
PNP / 14 / 20943228 / c.469G>A / p.Asp157Asn / rs141543277 / n/a / 0.0002 / 4.94x10-5 / 15.22 / 4.86 / 23 / T / B / paternal
TINF2 / 14 / 24709052 / c.1307C>T / p.Ala436Val / rs369249473 / n/a / 0.0001 / 0.0001 / 10.02 / 1.01 / 64 / T / B / maternal
YY1 / 14 / 100706002 / c.421G>A / p.Gly141Ser / rs139565994 / n/a / 0.0006 / 0.0006 / 12.61 / 0.138 / 56 / T / PsD / n/a
AP4E1 / 15 / 51201108 / c.133G>A / p.Ala45Thr / rs151135245 / n/a / n/a / 0.0001 / 21.3 / 3.38 / 58 / T / B / n/a
AP4E1 / 15 / 51221276 / c.613C>A / p.His205Asn / rs148499164 / n/a / 0.0004 / 0.0003 / 16.47 / 5.5 / 68 / D / PsD / n/a
AP4E1 / 15 / 51294743 / c.3298T>G / p.Cys1100Gly / None / n/a / n/a / n/a / 14.34 / 4.34 / 159 / D / B / n/a
All AF / Scores / Predictions
Gene / Chr / Position / cDNA
Change / Protein
Change / rs ID / 1000
Genomes / EVS / ExAC / CADD
Scaled / GERP / Grantham / SIFT† / Polyphen2‡ / Transmission
MYO5A / 15 / 52725464 / c.46C>G / p.Pro16Ala / rs369664207 / n/a / 0.0001 / 0.0001 / 25 / 5.7 / 27 / D / PrD / n/a
NOX5 / 15 / 69320571 / c.191G>A / p.Arg64Gln / None / n/a / n/a / 0.0002 / 15.15 / 1.43 / 43 / T / PrD / n/a
PSTPIP1 / 15 / 77323580 / c.702C>G / p.His234Gln / None / n/a / n/a / n/a / 16.29 / 2.78 / 24 / T / PsD / n/a
PSTPIP1 / 15 / 77328184 / c.1027G>A / p.Gly343Ser / rs370404621 / n/a / 0.0001 / 4.17x10-5 / 13.97 / 0.866 / 56 / T / B / n/a
PSTPIP1 / 15 / 77328272 / c.1115C>T / p.Ala372Val / rs200188483 / n/a / n/a / 0.0001 / 17.22 / 4.67 / 64 / D / PrD / n/a
BLM / 15 / 91358475 / c.4220G>A / p.Arg1407Lys / rs557057587 / n/a / n/a / 2.47x10-5 / 15.63 / 6.17 / 26 / D / PrD / maternal
MEFV / 16 / 3304166 / c.902C>A / p.Ser301* / None / n/a / n/a / n/a / 18.5 / 1.7 / n/a / n/a / n/a / n/a
CIITA / 16 / 10989525 / c.200-1G>C / n/a / None / n/a / n/a / n/a / 16.18 / 4.78 / n/a / n/a / n/a / n/a
CIITA / 16 / 10997703 / c.888C>A / p.Asp296Glu / None / n/a / n/a / 1.65x10-5 / 14.48 / 1.91 / 45 / T / B / n/a
CIITA / 16 / 10998642 / c.832G>T / p.Val327Phe / rs148597952 / n/a / n/a / 1.65x10-5 / 10.27 / 0.825 / 50 / T / B / n/a
PRKCB / 16 / 24202451 / c.1763C>A / p.Pro588His / rs35631544 / 0.0005 / 0.0007 / 0.0005 / 22.8 / 4.82 / 77 / D / PsD / n/a
IL4R / 16 / 27356233 / c.253G>A / p.Val85Met / rs141983833 / 0.0009 / 0.0009 / 0.0003 / 14.48 / -0.853 / 21 / D / PrD / n/a
IL21R / 16 / 27445735 / c.117G>A / p.Met39Ile / None / n/a / n/a / 2.47x10-5 / 10.52 / -3.07 / 10 / D / B / n/a
IL21R / 16 / 27460008 / c.1021G>A / p.Val341Met / None / n/a / n/a / n/a / 14.16 / -2.87 / 21 / D / B / n/a
CD19 / 16 / 28944687 / c.692A>C / p.Lys231Thr / None / n/a / n/a / 1.65x10-5 / 12.52 / -5.24 / 78 / T / B / n/a
CD19 / 16 / 28947872 / c.1035G>C / p.Gln345His / rs533120247 / n/a / n/a / 1.65x10-5 / 15.27 / 1.04 / 24 / D / B / paternal
CD19 / 16 / 28948350 / c.1091C>G / p.Ala364Gly / rs199902537 / n/a / n/a / 0.0001 / 18.43 / 3.51 / 60 / D / PsD / n/a
CD19 / 16 / 28950089 / c.1582G>T / p.Asp528Tyr / None / n/a / n/a / n/a / 19.88 / 5.09 / 160 / D / PrD / n/a
CORO1A / 16 / 30198162 / c.347T>C / p.Leu116Pro / rs566260573 / n/a / n/a / 0.0002 / 14.53 / 4.42 / 98 / T / B / n/a
NOD2 / 16 / 50733699 / c.374C>T / p.Pro125Leu / rs149390911 / 0.0009 / 0.0009 / 0.0002 / 10.68 / 2.88 / 98 / T / B / n/a
NOD2 / 16 / 50744753 / c.931C>T / p.Arg311Trp / rs104895427 / 0.0009 / 0.0008 / 0.0005 / 17.31 / 5.62 / 101 / D / PrD / n/a
NOD2 / 16 / 50745117 / c.1295C>T / p.Ala432Val / rs2076754 / n/a / 0.0002 / 0.0001 / 14.4 / 5.26 / 64 / D / PrD / n/a
NOD2 / 16 / 50745960 / c.2138G>A / p.Arg713His / rs104895483 / n/a / 0.0002 / 0.0003 / 11.29 / 4.78 / 29 / T / B / n/a
NOD2 / 16 / 50756571 / c.2753C>A / p.Ala918Asp / rs104895452 / 0.0009 / 0.0005 / 0.0004 / 25.9 / 5.91 / 126 / D / PrD / n/a
CX3CL1 / 16 / 57416795 / c.1045C>G / p.Leu349Val / None / n/a / n/a / n/a / 20.5 / 5.19 / 32 / D / PrD / paternal
NFAT5 / 16 / 69725885 / c.2157C>A / p.Ser719Arg / rs531151605 / n/a / n/a / n/a / 11.83 / -1.4 / 110 / D / PsD / paternal
KARS / 16 / 75665145 / c.1343G>A / p.Arg448His / rs201574004 / 0.0005 / n/a / 4.94x10-5 / 17.18 / 5.91 / 29 / T / B / n/a
KARS / 16 / 75665416 / c.1234G>A / p.Asp412Asn / None / n/a / n/a / n/a / 12.88 / 4.96 / 23 / T / B / n/a
MAF / 16 / 79628394 / c.1175C>T / p.Pro392Leu / None / n/a / n/a / n/a / 21.3 / 4.92 / 98 / D / PsD / n/a
PLCG2 / 16 / 81819747 / c.153G>C / p.Gln51His / None / n/a / n/a / 8.26x10-6 / 20.7 / 2.1 / 24 / D / PrD / n/a
PLCG2 / 16 / 81916888 / c.707C>T / p.Pro236Leu / rs199760975 / n/a / 0.0005 / 0.0004 / 20.1 / 5.14 / 98 / T / PrD / n/a
PLCG2 / 16 / 81925123 / c.914A>G / p.Lys305Arg / None / n/a / n/a / n/a / 22.6 / 4.51 / 26 / T / PrD / n/a
PLCG2 / 16 / 81925132 / c.923C>T / p.Ala308Val / rs199636472 / 0.0009 / 0.0005 / 0.0009 / 11.75 / 0.131 / 64 / T / B / n/a
PLCG2 / 16 / 81965180 / c.2660A>C / p.Glu887Ala / rs369092713 / n/a / 0.0002 / 0.0002 / 16.57 / 4.39 / 107 / D / B / paternal
PLCG2 / 16 / 81969848 / c.2917G>A / p.Asp973Asn / rs568724894 / n/a / n/a / 8.27x10-6 / 13.41 / 4.79 / 23 / T / PrD / n/a
PLCG2 / 16 / 81971419 / c.3109G>A / p.Val1037Ile / rs373561919 / n/a / n/a / 8.25x10-6 / 14.67 / 5.42 / 29 / T / B / n/a
WFDC1 / 16 / 84353055 / c.440C>T / p.Thr147Met / rs141305670 / 0.0005 / 0.0002 / 0.0002 / 18.27 / 4.43 / 81 / D / PrD / n/a
WFDC1 / 16 / 84360517 / c.634G>A / p.Gly212Arg / rs545025556 / n/a / n/a / 0.0001 / 20.7 / 3.46 / 125 / T / PrD / n/a
WRAP53 / 17 / 7592628 / c.518A>G / p.Lys173Arg / None / n/a / n/a / n/a / 21.5 / 4.66 / 26 / T / PsD / n/a
WRAP53 / 17 / 7604809 / c.764A>G / p.His255Arg / rs375474753 / n/a / 0.0001 / 3.30x10-5 / 13.23 / 4 / 29 / D / PrD / n/a
WRAP53 / 17 / 7605865 / c.1159C>T / p.Arg387Cys / rs199669019 / n/a / 0.0001 / 0.0001 / 26.9 / 5.13 / 180 / D / PrD / n/a
FOXN1 / 17 / 26851770 / c.373C>A / p.Pro125Thr / None / n/a / n/a / 1.65x10-5 / 20.4 / 4.49 / 38 / D / PrD / n/a
FOXN1 / 17 / 26851950 / c.553C>T / p.Pro185Ser / None / n/a / n/a / n/a / 13.89 / 0.0217 / 74 / T / B / n/a
FOXN1 / 17 / 26861767 / c.1178G>A / p.Gly393Asp / rs370498747 / n/a / 0.0002 / 0.0001 / 14.15 / 3.25 / 94 / T / B / n/a
All AF / Scores / Predictions
Gene / Chr / Position / cDNA
Change / Protein
Change / rs ID / 1000
Genomes / EVS / ExAC / CADD
Scaled / GERP / Grantham / SIFT† / Polyphen2‡ / Transmission
FOXN1 / 17 / 26861805 / c.1216G>A / p.Gly406Ser / None / n/a / n/a / 1.65x10-5 / 11 / 3.3 / 56 / T / B / n/a
UNC119 / 17 / 26874802 / c.503G>T / p.Arg168Leu / rs140667534 / n/a / 0.0001 / 8.24x10-6 / 35 / 5.81 / 102 / D / PrD / n/a
UNC119 / 17 / 26875098 / c.356G>A / p.Arg119Gln / rs200211619 / 0.0005 / n/a / 0.0002 / 13.86 / 5.81 / 43 / T / PsD / n/a
CCL3 / 17 / 34416577 / c.140T>C / p.Ile47Thr / rs146554516 / n/a / 0.0002 / 0.0005 / 16.96 / 5.4 / 89 / D / B / n/a
STAT3 / 17 / 40489873 / c.553A>C / p.Met185Leu / None / n/a / n/a / n/a / 11.64 / 5.49 / 15 / T / B / n/a
G6PC / 17 / 41052907 / c.14T>G / p.Met5Arg / None / n/a / n/a / n/a / 21.8 / 5.27 / 91 / D / PrD / n/a
G6PC / 17 / 41053086 / c.193G>T / p.Ala65Ser / rs369472089 / n/a / 0.0001 / 1.65x10-5 / 29.9 / 5.27 / 99 / D / PrD / paternal
HEXIM1 / 17 / 43227224 / c.667G>A / p.Gly223Ser / rs552016551 / n/a / n/a / n/a / 18.5 / 4.74 / 56 / T / PrD / n/a
MPO / 17 / 56350259 / c.1642C>T / p.Arg548Trp / rs148802625 / 0.0009 / 0.0005 / 0.0003 / 25.1 / 5.1 / 101 / D / PrD / n/a
MPO / 17 / 56350865 / c.1531C>T / p.Arg511Cys / None / n/a / n/a / 2.47x10-5 / 20.3 / 4.27 / 180 / D / PrD / paternal
MPO / 17 / 56357803 / c.172G>A / p.Asp58Asn / rs55929952 / n/a / 0.0002 / 0.0003 / 15.07 / 5.57 / 23 / T / PsD / n/a
CD79B / 17 / 62006814 / c.571G>C / p.Glu191Gln / None / n/a / n/a / 3.30x10-5 / 12.03 / 4.27 / 29 / D / PrD / n/a
WIPI1 / 17 / 66426210 / c.892A>G / p.Met298Val / None / n/a / n/a / n/a / 16.51 / 5.54 / 21 / D / B / n/a
PRKAR1A / 17 / 66511638 / c.98A>G / p.Asp33Gly / None / n/a / n/a / n/a / 23.4 / 4.02 / 94 / D / PsD / n/a
FAM20A / 17 / 66537001 / c.1208A>T / p.Asp403Val / None / n/a / n/a / n/a / 25.2 / 5.39 / 152 / D / PrD / n/a
UNC13D / 17 / 73824059 / c.3260G>A / p.Arg1087Gln / None / n/a / n/a / 0.0001 / 13.1 / -2.14 / 43 / T / B / n/a
UNC13D / 17 / 73830568 / c.2136C>G / p.Ile712Met / rs112245411 / n/a / n/a / n/a / 10.05 / -1.9 / 10 / T / PsD / n/a
UNC13D / 17 / 73830727 / c.2063A>G / p.Gln688Arg / None / n/a / n/a / 2.47x10-5 / 11.89 / 4.87 / 43 / T / B / n/a
UNC13D / 17 / 73832924 / c.1131C>G / p.Ser377Arg / rs142335129 / n/a / 0.0002 / 0.0003 / 18.96 / 3.78 / 110 / D / PsD / n/a
UNC13D / 17 / 73836856 / c.670C>T / p.His224Tyr / rs145607492 / n/a / 0.0002 / 0.0002 / 17.64 / 3.44 / 83 / D / PrD / n/a
UNC13D / 17 / 73839305 / c.196C>T / p.Arg66Cys / None / n/a / n/a / n/a / 26 / 4.72 / 180 / D / PrD / n/a
TMC6 / 17 / 76109264 / c.2383C>T / p.Pro795Ser / None / n/a / n/a / 8.80x10-6 / 14.98 / -0.725 / 74 / D / B / n/a
TMC6 / 17 / 76120673 / c.823G>T / p.Val275Phe / rs138860970 / n/a / 0.0001 / 0.0001 / 14.84 / 3.64 / 50 / T / B / n/a
TMC8 / 17 / 76128039 / c.226C>T / p.Arg76Cys / None / n/a / n/a / 0.0001 / 14.68 / 2.63 / 180 / D / PrD / n/a
TMC8 / 17 / 76136985 / c.1973C>T / p.Ser658Phe / None / n/a / n/a / n/a / 13.73 / 3.3 / 155 / D / B / n/a
LGALS3BP / 17 / 76968544 / c.872C>T / p.Thr291Met / rs528455834 / n/a / n/a / 0.0002 / 10.55 / -0.791 / 81 / T / PsD / n/a
EPG5 / 18 / 43446872 / c.6512A>G / p.His2171Arg / rs369070714 / n/a / 0.0002 / 4.95x10-5 / 23.7 / 5.87 / 29 / T / PrD / n/a
EPG5 / 18 / 43510751 / c.2303A>G / p.Asn768Ser / rs61736031 / n/a / 0.0006 / 0.0002 / 17.42 / 5.87 / 46 / T / PrD / n/a
EPG5 / 18 / 43534876 / c.492G>T / p.Gln164His / None / n/a / n/a / n/a / 11.45 / 1.74 / 24 / T / B / n/a
EPG5 / 18 / 43534895 / c.473C>G / p.Ser158Cys / None / n/a / n/a / n/a / 11.79 / 4.62 / 112 / D / PrD / n/a
EPG5 / 18 / 43534961 / c.407A>G / p.Lys136Arg / rs199571302 / 0.0005 / 0.0002 / 3.31x10-5 / 11 / 1.79 / 26 / T / B / n/a
LOC101927322 / 18 / 56338750 / c.128C>A / p.Ala43Glu / rs541201464 / n/a / n/a / n/a / 11.93 / n/a / 107 / n/a / n/a / n/a
TNFRSF11A / 18 / 60027209 / c.543A>T / p.Arg181Ser / None / n/a / n/a / 0.0002 / 11.39 / -9.3 / 110 / T / B / n/a
TNFRSF11A / 18 / 60029014 / c.718>G / p.Lys240Glu / rs148185533 / 0.0005 / 0.0008 / 0.0009 / 21.1 / 5.66 / 56 / D / PrD / paternal
TNFRSF11A / 18 / 60036429 / c.1279G>A / p.Asp427Asn / rs201402594 / n/a / 0.0005 / 0.0008 / 18.22 / 4.16 / 23 / D / PsD / n/a
TNFRSF11A / 18 / 60052034 / c.1618A>G / p.Met540Val / rs117028614 / 0.0009 / 0.0008 / 0.0006 / 22.2 / 4.8 / 21 / D / PrD / n/a
ELANE / 19 / 852353 / c.25C>A / p.Cys9Ser / None / n/a / n/a / n/a / 11.02 / -0.293 / 112 / T / B / n/a
ELANE / 19 / 853311 / c.274C>T / p.Arg92Trp / None / n/a / n/a / n/a / 14.31 / 1 / 101 / D / PrD / n/a
TICAM1 / 19 / 4817693 / c.697G>A / p.Asp233Asn / rs141739488 / n/a / 0.0001 / 0.0001 / 13.68 / -2.95 / 23 / T / B / n/a
C3 / 19 / 6693465 / c.3188G>A / p.Ser1063Asn / None / n/a / n/a / 0.0001 / 11.53 / -3.41 / 46 / T / B / n/a
STXBP2 / 19 / 7707105 / c.680G>T / p.Arg227Leu / rs200855062 / n/a / n/a / 8.24x10-6 / 17.67 / 4.54 / 102 / D / PrD / n/a
TYK2 / 19 / 10475595 / c.1141C>T / p.Arg381Trp / rs201240289 / n/a / 0.0002 / 0.0002 / 22.9 / 5.24 / 101 / D / PrD / n/a
TYK2 / 19 / 10479032 / c.256C>A / p.Pro86Thr / rs141466711 / n/a / 0.0001 / 3.30x10-5 / 18.66 / 4.14 / 38 / D / PrD / n/a
MAN2B1 / 19 / 12763267 / c.1838G>A / p.Arg613Gln / rs543222535 / n/a / n/a / 0.0005 / 11.39 / 3.48 / 43 / T / PsD / n/a
All AF / Scores / Predictions
Gene / Chr / Position / cDNA
Change / Protein
Change / rs ID / 1000
Genomes / EVS / ExAC / CADD
Scaled / GERP / Grantham / SIFT† / Polyphen2‡ / Transmission
MAN2B1 / 19 / 12776225 / c.377G>T / p.Arg126Leu / None / n/a / n/a / 1.65x10-5 / 28.9 / 4.78 / 102 / D / PrD / n/a
RNASEH2A / 19 / 12920890 / c.417C>A / p.Phe139Leu / rs201413125 / 0 / n/a / 0.0002 / 15.39 / -3.51 / 22 / D / PsD / n/a
RNASEH2A / 19 / 12920908 / c.435G>A / p.Met145Ile / None / n/a / n/a / n/a / 11.31 / -0.681 / 10 / T / B / n/a
BST2 / 19 / 17514951 / c.400G>A / p.Val134Met / None / n/a / n/a / n/a / 14.01 / -2.75 / 21 / D / PrD / n/a
BST2 / 19 / 17516329 / c.56G>A / p.Arg19His / rs376557702 / n/a / 0.0002 / 4.12x10-5 / 11.42 / -4.95 / 29 / T / B / n/a
JAK3 / 19 / 17941401 / c.3007A>G / p.Ile1003Val / rs137901277 / n/a / 0.0002 / 0.0001 / 10.45 / 0.631 / 29 / D / B / paternal
JAK3 / 19 / 17948856 / c.1586A>G / p.His529Arg / rs142805245 / 0 / 0.0001 / 1.65x10-5 / 14.88 / 4.93 / 29 / T / B / n/a
UPF1 / 19 / 18960993 / c.571G>A / p.Val191Ile / None / n/a / n/a / 8.24x10-6 / 16.48 / 3.85 / 29 / T / B / n/a
UPF1 / 19 / 18966736 / c.1547C>T / p.Pro516Leu / None / n/a / n/a / n/a / 17.61 / 4.5 / 98 / D / PrD / n/a
GPI / 19 / 34857733 / c.376G>T / p.Gly126Cys / None / n/a / n/a / n/a / 32 / 5.78 / 159 / D / PrD / n/a
GPI / 19 / 34890197 / c.1388C>T / p.Ala483Val / rs199570323 / 0.0005 / n/a / 0.0001 / 16.35 / 6.08 / 64 / D / PsD / n/a
GPI / 19 / 34890217 / c.1408C>G / p.Leu470Val / rs143234079 / n/a / n/a / n/a / 11.19 / -12.2 / 32 / T / B / maternal
CD79A / 19 / 42383204 / c.224C>T / p.Thr75Met / rs199967393 / n/a / 0.0001 / 0.0002 / 16.47 / 2.94 / 81 / D / PrD / n/a
APOE / 19 / 45409916 / c.35T>A / p.Phe12Tyr / None / n/a / n/a / 1.65x10-5 / 14.2 / 3.65 / 22 / D / B / paternal
PPP1R13L / 19 / 45900004 / c.511C>T / p.Pro171Ser / None / n/a / n/a / 4.74x10-5 / 12.04 / 1.15 / 74 / T / B / n/a
LIG1 / 19 / 48647191 / c.806C>G / p.Ala269Gly / None / n/a / n/a / n/a / 15.22 / 3.81 / 60 / T / B / n/a
FCGRT / 19 / 50028740 / c.898G>A / p.Val300Met / rs141001122 / n/a / 0.0005 / 0.0002 / 14.34 / 3.45 / 21 / T / PrD / n/a
FPR1 / 19 / 52249625 / c.623T>C / p.Ile208Thr / rs200464393 / n/a / n/a / 2.47x10-5 / 13.85 / 3.66 / 89 / D / PsD / paternal
NLRP12 / 19 / 54313418 / c.1495A>G / p.Ile499Val / rs146903616 / n/a / 0.0005 / 0.0001 / 10.39 / 1.82 / 29 / T / B / n/a
NLRP12 / 19 / 54314098 / c.815G>A / p.Trp272* / None / n/a / n/a / 8.24x10-6 / 26.9 / 4.15 / n/a / n/a / n/a / n/a
TRMT6 / 20 / 5919204 / c.1471A>T / p.Lys491* / None / n/a / n/a / n/a / 39 / 5.65 / n/a / n/a / n/a / n/a
DNMT3B / 20 / 31368202 / c.73G>A / p.Gly25Arg / rs151128145 / 0.0005 / 0.0009 / 0.0007 / 18.16 / 4.52 / 125 / T / PrD / n/a
DNMT3B / 20 / 31379479 / c.886G>A / p.Val296Ile / rs145632647 / n/a / 0.0008 / 0.0005 / 14.13 / 4.87 / 29 / T / B / maternal*
DNMT3B / 20 / 31386436 / c.1661C>T / p.Thr554Met / rs577581342 / n/a / n/a / 0.0001 / 15.13 / -7.64 / 81 / T / B / n/a
ADA / 20 / 43249697 / c.937C>T / p.Arg313Trp / rs79249850 / n/a / n/a / 2.47x10-5 / 13.21 / -1.37 / 101 / T / PsD / n/a
ADA / 20 / 43252858 / c.591T>A / p.His197Gln / rs142456343 / n/a / 0.0002 / 0.0002 / 15.56 / -2.18 / 24 / D / PsD / n/a
ACOT8 / 20 / 44473004 / c.544G>A / p.Glu182Lys / rs200795056 / n/a / 0.0001 / 0.0001 / 15.7 / 3.64 / 56 / T / B / n/a
ACOT8 / 20 / 44477088 / c.488+1G>A / n/a / rs201732456 / n/a / 0.0002 / 0.0001 / 19.73 / 5.38 / n/a / n/a / n/a / n/a
ACOT8 / 20 / 44477254 / c.323C>T / p.Ser108Leu / rs376706756 / n/a / 0.0001 / 8.24x10-6 / 13.53 / 5.38 / 145 / D / PrD / n/a
IL10RB / 21 / 34655475 / c.575G>A / p.Arg192Gln / rs147402422 / n/a / 0.0001 / 3.30x10-5 / 10.46 / -2.71 / 43 / T / B / n/a
IL10RB / 21 / 34668541 / c.857C>G / p.Ser286Trp / None / n/a / n/a / 8.24x10-6 / 11.49 / 3.13 / 177 / D / PrD / n/a
AIRE / 21 / 45706895 / c.342G>T / p.Lys114Asn / rs142788946 / n/a / 0.0005 / 0.0002 / 14.16 / 2.1 / 94 / D / PrD / n/a
IL17RA / 22 / 17583106 / c.676G>C / p.Glu226Gln / rs144085995 / n/a / 0.0004 / 0.0003 / 14.57 / 5.23 / 29 / T / PrD / n/a
IL17RA / 22 / 17590193 / c.2084C>T / p.Ala695Val / None / n/a / n/a / 4.59x10-5 / 11.93 / 3.34 / 64 / T / B / n/a
TBX1 / 22 / 19750806 / c.453T>A / p.Asp151Glu / None / n/a / n/a / 1.65x10-5 / 18.01 / 0.441 / 45 / T / B / n/a
TCN2 / 22 / 31011374 / c.667A>G / p.Ile223Val / rs144889471 / n/a / 0.0002 / 0.0001 / 11.07 / 0.849 / 29 / T / B / n/a
TCN2 / 22 / 31011643 / c.809C>T / p.Ala270Val / rs201392026 / 0.0004 / 0.0004 / 0.0004 / 17.08 / 5.03 / 64 / T / PrD / n/a
HMOX1 / 22 / 35789521 / c.797C>T / p.Pro266Leu / rs35980144 / n/a / 0.0004 / 0.0005 / 18.03 / 5.57 / 98 / D / PsD / n/a
APOL1 / 22 / 36651024 / c.23G>A / p.Arg8Lys / None / n/a / n/a / 0.0002 / 12.45 / -2.33 / 26 / T / PsD / n/a
NCF4 / 22 / 37260960 / c.118-1G>A / n/a / rs28445840 / n/a / n/a / 0.0001 / 12.82 / 5.67 / n/a / n/a / n/a / n/a
APOBEC3F / 22 / 39441029 / c.255C>A / p.Phe85Leu / None / n/a / n/a / 8.24x10-6 / 15.2 / 2.18 / 22 / D / PsD / n/a
APOBEC3F / 22 / 39441114 / c.340A>C / p.Thr114Pro / None / n/a / n/a / 0.0003 / 14.27 / 2.27 / 38 / D / PrD / n/a
DDX3X / X / 41206899 / c.1916A>G / p.Tyr639Cys / None / n/a / n/a / n/a / 14.65 / 5.36 / 194 / D / PrD / n/a
WAS / X / 48544175 / c.413G>A / p.Arg138Gln / rs139265251 / 0.0006 / 0.0009 / 0.0004 / 10.28 / -3.74 / 43 / T / B / paternal
All AF / Scores / Predictions
Gene / Chr / Position / cDNA
Change / Protein
Change / rs ID / 1000
Genomes / EVS / ExAC / CADD
Scaled / GERP / Grantham / SIFT† / Polyphen2‡ / Transmission
FOXP3 / X / 49107850 / c.1241G>A / p.Arg414His / None / n/a / n/a / 0.0001 / 19.52 / 4.58 / 29 / T / PrD / n/a
NOX1 / X / 100106259 / c.860G>A / p.Arg287Gln / rs143127702 / n/a / 0.0007 / 0.0005 / 24.3 / 3.91 / 43 / D / PrD / maternal*
APLN / X / 128782763 / c.74T>C / p.Leu25Pro / None / n/a / n/a / n/a / 12.1 / 4.53 / 98 / D / PrD / n/a
G6PD / X / 153764383 / c.221C>G / p.Ala74Gly / rs78478128 / n/a / n/a / 0.0003 / 28.2 / 5.38 / 60 / D / PrD / n/a
IKBKG / X / 153770633 / c.155T>C / p.Leu52Pro / None / n/a / n/a / n/a / 11.37 / -1.1 / 98 / D / B / n/a