PDMR-582836~169-R~A37-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A2M-
-
-
-
1Loss-
A2ML1-
-
-
-
1Loss-
A4GNT-
-
-
-
3Gain-
AADAC-
-
-
-
3Gain-
AADACL2-
-
-
-
3Gain-
AAMDC-
-
-
-
1Loss-
AAMP-
-
-
-
1Loss-
AASDHPPT-
-
-
-
1Loss-
AASS-
-
-
-
1Loss-
ABCA10-
-
-
-
3Gain-
ABCA12-
-
-
-
1Loss-
ABCA13-
-
-
-
1Loss-
ABCA5-
-
-
-
3Gain-
ABCA6-
-
-
-
3Gain-
ABCA7-
-
-
-
1Loss-
ABCA8-
-
-
-
3Gain-
ABCA9-
-
-
-
3Gain-
ABCB6-
-
-
-
1Loss-
ABCB8-
-
-
-
1Loss-
ABCC3-
-
-
-
3Gain-
ABCC5-
-
-
-
3Gain-
ABCC6p.I1323M
Missense
SNP
0.497
2--
ABCC9-
-
-
-
3Gain-
ABCF2-
-
-
-
1Loss-
ABCF3-
-
-
-
3Gain-
ABCG1-
-
-
-
3Gain-
ABCG2p.L75V
Missense
SNP
0.425
2--
ABCG4-
-
-
-
1Loss-
ABHD10-
-
-
-
3Gain-
ABHD17A-
-
-
-
1Loss-
ABHD3-
-
-
-
3Gain-
ABHD8-
-
-
-
1Loss-
ABI2-
-
-
-
1Loss-
ABI3-
-
-
-
3Gain-
ABI3BP-
-
-
-
3Gain-
ABR-
-
-
-
1Loss-
ABTB1-
-
-
-
3Gain-
AC002985.1-
-
-
-
1Loss-
AC003688.1-
-
-
-
1Loss-
AC004687.2-
-
-
-
3Gain-
AC004805.1-
-
-
-
3Gain-
AC005258.1-
-
-
-
1Loss-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005702.1-
-
-
-
3Gain-
AC005832.4-
-
-
-
1Loss-
AC005833.1-
-
-
-
1Loss-
AC005943.1-
-
-
-
1Loss-
AC006064.6-
-
-
-
1Loss-
AC006518.7-
-
-
-
1Loss-
AC006538.2-
-
-
-
1Loss-
AC007192.1-
-
-
-
1Loss-
AC007326.4-
-
-
-
3Gain-
AC007731.5-
-
-
-
3Gain-
AC007846.2-
-
-
-
1Loss-
AC007998.2-
-
-
-
3Gain-
AC008012.1-
-
-
-
1Loss-
AC008397.2-
-
-
-
1Loss-
AC008481.3-
-
-
-
1Loss-
AC008575.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC008695.1-
-
-
-
1Loss-
AC008758.1-
-
-
-
1Loss-
AC008758.4-
-
-
-
1Loss-
AC008758.5-
-
-
-
1Loss-
AC008758.6-
-
-
-
1Loss-
AC008763.2-
-
-
-
1Loss-
AC008763.3-
-
-
-
1Loss-
AC008764.1-
-
-
-
1Loss-
AC008764.4-
-
-
-
1Loss-
AC008770.1-
-
-
-
1Loss-
AC008770.2-
-
-
-
1Loss-
AC008878.1-
-
-
-
1Loss-
AC008878.2-
-
-
-
1Loss-
AC008878.3-
-
-
-
1Loss-
AC010197.2-
-
-
-
3Gain-
AC010255.3-
-
-
-
1Loss-
AC010319.2-
-
-
-
1Loss-
AC010323.1-
-
-
-
1Loss-
AC010422.3-
-
-
-
1Loss-
AC010422.5-
-
-
-
1Loss-
AC010422.6-
-
-
-
1Loss-
AC010422.8-
-
-
-
1Loss-
AC010463.1-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC010646.1-
-
-
-
1Loss-
AC011005.1-
-
-
-
1Loss-
AC011195.2-
-
-
-
3Gain-
AC011330.3-
-
-
-
3Gain-
AC011448.1-
-
-
-
1Loss-
AC011498.4-
-
-
-
1Loss-
AC011499.1-
-
-
-
1Loss-
AC011511.1-
-
-
-
1Loss-
AC011511.4-
-
-
-
1Loss-
AC011604.2-
-
-
-
3Gain-
AC012254.2-
-
-
-
3Gain-
AC012309.1-
-
-
-
1Loss-
AC012476.1-
-
-
-
3Gain-
AC012651.1-
-
-
-
3Gain-
AC015813.2-
-
-
-
3Gain-
AC018362.3-
-
-
-
3Gain-
AC018512.1-
-
-
-
3Gain-
AC020636.2-
-
-
-
3Gain-
AC021097.2-
-
-
-
1Loss-
AC021097.3-
-
-
-
1Loss-
AC021660.3-
-
-
-
3Gain-
AC022335.1-
-
-
-
3Gain-
AC022384.1-
-
-
-
1Loss-
AC022414.1-
-
-
-
1Loss-
AC024592.3-
-
-
-
1Loss-
AC026316.5-
-
-
-
3Gain-
AC026398.1-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC046185.1-
-
-
-
3Gain-
AC055811.2-
-
-
-
1Loss-
AC068631.2-
-
-
-
3Gain-
AC068775.1-
-
-
-
1Loss-
AC068946.1-
-
-
-
1Loss-
AC068946.2-
-
-
-
1Loss-
AC069257.3-
-
-
-
3Gain-
AC069444.2-
-
-
-
3Gain-
AC073111.3-
-
-
-
1Loss-
AC073111.5-
-
-
-
1Loss-
AC079594.2-
-
-
-
3Gain-
AC083800.1-
-
-
-
3Gain-
AC087721.2-
-
-
-
3Gain-
AC090004.1-
-
-
-
1Loss-
AC090227.1-
-
-
-
3Gain-
AC090360.1-
-
-
-
3Gain-
AC090527.2-
-
-
-
3Gain-
AC091057.6-
-
-
-
1LossPPIL2--AC091057.6
AP000553.1--AC091057.6
AC091057.7-
-
-
-
NDNDAP000553.1--AC091057.7
PPIL2--AC091057.7
AC091551.1-
-
-
-
3Gain-
AC092111.3-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC093227.2-
-
-
-
1Loss-
AC093668.2-
-
-
-
1Loss-
AC093668.3-
-
-
-
1Loss-
AC098650.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC099850.2-
-
-
-
3Gain-
AC104109.3-
-
-
-
1Loss-
AC104472.3-
-
-
-
3Gain-
AC104532.1-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC105052.1-
-
-
-
1Loss-
AC105052.3-
-
-
-
1Loss-
AC112128.1-
-
-
-
3Gain-
AC112504.2-
-
-
-
3Gain-
AC113554.1-
-
-
-
3Gain-
AC116366.3-
-
-
-
1Loss-
AC117457.1-
-
-
-
3Gain-
AC119396.1-
-
-
-
1Loss-
AC120057.2-
-
-
-
1Loss-
AC124312.1-
-
-
-
1Loss-
AC127029.3-
-
-
-
3Gain-
AC129492.3-
-
-
-
1Loss-
AC131097.2-
-
-
-
1Loss-
AC131160.1-
-
-
-
3Gain-
AC134980.3-
-
-
-
0Del-
AC135068.1-
-
-
-
0Del-
AC135068.3-
-
-
-
0Del-
AC135178.2-
-
-
-
1Loss-
AC239799.1-
-
-
-
0Del-
AC243756.1-
-
-
-
0Del-
ACAA2-
-
-
-
3Gain-
ACACAp.R1374K
Missense
SNP
0.410
2--
ACAD10p.E672K
Missense
SNP
0.406
2--
ACAD11-
-
-
-
3Gain-
ACAD8-
-
-
-
1Loss-
ACAD9-
-
-
-
3Gain-
ACADL-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACAP2-
-
-
-
3Gain-
ACAP3-
-
-
-
3Gain-
ACAT1-
-
-
-
1Loss-
ACE-
-
-
-
3Gain-
ACER1-
-
-
-
1Loss-
ACER2-
-
-
-
1Loss-
ACER3-
-
-
-
1Loss-
ACKR3-
-
-
-
1Loss-
ACKR4-
-
-
-
3Gain-
ACO1-
-
-
-
1Loss-
ACOT12-
-
-
-
1Loss-
ACOT7-
-
-
-
3Gain-
ACP5-
-
-
-
1Loss-
ACPP-
-
-
-
3Gain-
ACRBP-
-
-
-
1Loss-
ACRV1-
-
-
-
1Loss-
ACSBG2-
-
-
-
1Loss-
ACSF2-
-
-
-
3Gain-
ACSL3-
-
-
-
1Loss-
ACSL6-
-
-
-
1Loss-
ACSM4-
-
-
-
1Loss-
ACTB-
-
-
-
2-AL136295.5--ACTB
ACTBL2-
-
-
-
1Loss-
ACTC1-
-
-
-
3Gain-
ACTL6A-
-
-
-
3Gain-
ACTL9-
-
-
-
1Loss-
ACTN1p.S145L
Missense
SNP
0.364
2--
ACTR3B-
-
-
-
1Loss-
ACTR3C-
-
-
-
1Loss-
ACTRT2-
-
-
-
3Gain-
ACTRT3-
-
-
-
3Gain-
ADA2-
-
-
-
3Gain-
ADAL-
-
-
-
3Gain-
ADAM17p.F26L
Missense
SNP
0.437
2--
ADAM23-
-
-
-
1Loss-
ADAM8-
-
-
-
1Loss-
ADAMTS10-
-
-
-
1Loss-
ADAMTS12-
-
-
-
3Gain-
ADAMTS15-
-
-
-
1Loss-
ADAMTS16-
-
-
-
3Gain-
ADAMTS19-
-
-
-
1Loss-
ADAMTS6p.S753*
Nonsense
SNP
0.763
1Loss-
ADAMTS8-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL5-
-
-
-
1Loss-
ADARB1-
-
-
-
3Gain-
ADAT3-
-
-
-
1Loss-
ADCK2-
-
-
-
1Loss-
ADCY1-
-
-
-
1Loss-
ADCY2-
-
-
-
3Gain-
ADCY5-
-
-
-
3Gain-
ADCYAP1-
-
-
-
1Loss-
ADGRA1-
-
-
-
1Loss-
ADGRE1-
-
-
-
1Loss-
ADGRE2-
-
-
-
1Loss-
ADGRE3-
-
-
-
1Loss-
ADGRE5-
-
-
-
1Loss-
ADGRG7-
-
-
-
3Gain-
ADGRL1-
-
-
-
1Loss-
ADGRV1-
-
-
-
1Loss-
ADIPOQ-
-
-
-
3Gain-
ADIPOR2-
-
-
-
1Loss-
ADNP2-
-
-
-
3Gain-
ADORA2B-
-
-
-
1Loss-
ADPRH-
-
-
-
3Gain-
ADPRM-
-
-
-
1Loss-
AEBP2-
-
-
-
3Gain-
AES-
-
-
-
1Loss-
AFF4-
-
-
-
1Loss-
AFG3L2-
-
-
-
1Loss-
AGAP1-
-
-
-
1Loss-
AGAP3-
-
-
-
1Loss-
AGBL3-
-
-
-
1Loss-
AGFG1-
-
-
-
1Loss-
AGGF1-
-
-
-
1Loss-
AGK-
-
-
-
1Loss-
AGPAT3-
-
-
-
3Gain-
AGRN-
-
-
-
3Gain-
AGTR1-
-
-
-
3Gain-
AGXT-
-
-
-
1Loss-
AGXT2-
-
-
-
3Gain-
AHCYL2-
-
-
-
1Loss-
AHRR-
-
-
-
3Gain-
AHSG-
-
-
-
3Gain-
AICDA-
-
-
-
1Loss-
AIFM3p.D220Y
Missense
SNP
0.356
3Gain-
AIPL1-
-
-
-
1Loss-
AJAP1-
-
-
-
3Gain-
AK3-
-
-
-
1Loss-
AK6-
-
-
-
1Loss-
AKAIN1-
-
-
-
1Loss-
AKAP1-
-
-
-
3Gain-
AKAP10-
-
-
-
1Loss-
AKAP3-
-
-
-
1Loss-
AKAP8-
-
-
-
1Loss-
AKAP8L-
-
-
-
1Loss-
AKR1B1-
-
-
-
1Loss-
AKR1B10-
-
-
-
1Loss-
AKR1B15-
-
-
-
1Loss-
AKR1D1-
-
-
-
1Loss-
AL031847.2-
-
-
-
3Gain-
AL133410.3-
-
-
-
1LossAL133410.3--RN7SL1
AL133410.3--AL139099.4
AL136295.5-
-
-
-
2-AL136295.5--ACTB
AL138752.2-
-
-
-
1Loss-
AL139099.4-
-
-
-
NDNDHINT2--AL139099.4
AL133410.3--AL139099.4
AL162231.1-
-
-
-
1Loss-
AL162231.3-
-
-
-
1Loss-
AL359922.1-
-
-
-
1Loss-
AL360181.3-
-
-
-
1Loss-
AL513165.2-
-
-
-
1Loss-
ALCAM-
-
-
-
3Gain-
ALDH1B1-
-
-
-
1Loss-
ALDH1L1p.D755N
Missense
SNP
0.283
3Gain-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH7A1-
-
-
-
1Loss-
ALG1L-
-
-
-
3Gain-
ALG1L2-
-
-
-
3Gain-
ALG3-
-
-
-
3Gain-
ALG8-
-
-
-
1Loss-
ALG9-
-
-
-
1Loss-
ALKBH5-
-
-
-
1Loss-
ALKBH7-
-
-
-
1Loss-
ALKBH8-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
ALPG-
-
-
-
1Loss-
ALPI-
-
-
-
1Loss-
ALPK2-
-
-
-
3Gain-
ALPP-
-
-
-
1Loss-
ALS2-
-
-
-
1Loss-
ALS2CR12-
-
-
-
1Loss-
AMACRp.L69V
Missense
SNP
0.642
3Gain-
AMH-
-
-
-
1Loss-
AMOTL1-
-
-
-
1Loss-
AMOTL2-
-
-
-
3Gain-
AMPD3p.Q635E
Missense
SNP
0.446
2--
AMY1A-
-
-
-
0Del-
AMY1B-
-
-
-
0Del-
AMY1C-
-
-
-
0Del-
AMY2A-
-
-
-
0Del-
AMZ2-
-
-
-
3Gain-
ANAPC13-
-
-
-
3Gain-
ANAPC15-
-
-
-
1Loss-
ANGPTL4-
-
-
-
1Loss-
ANGPTL5-
-
-
-
1Loss-
ANGPTL6-
-
-
-
1Loss-
ANGPTL8-
-
-
-
1Loss-
ANKDD1B-
-
-
-
1Loss-
ANKFN1-
-
-
-
3Gain-
ANKFY1-
-
-
-
1Loss-
ANKH-
-
-
-
3Gain-
ANKK1-
-
-
-
1Loss-
ANKLE1-
-
-
-
1Loss-
ANKMY1-
-
-
-
1Loss-
ANKRA2-
-
-
-
1Loss-
ANKRD12-
-
-
-
1Loss-
ANKRD18A-
-
-
-
1Loss-
ANKRD18B-
-
-
-
1Loss-
ANKRD20A1-
-
-
-
1Loss-
ANKRD20A3-
-
-
-
1Loss-
ANKRD24-
-
-
-
1Loss-
ANKRD28-
-
-
-
1Loss-
ANKRD29-
-
-
-
3Gain-
ANKRD30B-
-
-
-
1Loss-
ANKRD31-
-
-
-
1Loss-
ANKRD33B-
-
-
-
3Gain-
ANKRD34B-
-
-
-
1Loss-
ANKRD40-
-
-
-
3Gain-
ANKRD42-
-
-
-
1Loss-
ANKRD49-
-
-
-
1Loss-
ANKRD55-
-
-
-
1Loss-
ANKRD62-
-
-
-
1Loss-
ANKRD63-
-
-
-
3Gain-
ANKRD65-
-
-
-
3Gain-
ANKRD7-
-
-
-
1Loss-
ANKUB1-
-
-
-
3Gain-
ANKZF1-
-
-
-
1Loss-
ANO1-
-
-
-
1Loss-
ANO2-
-
-
-
1Loss-
ANO7-
-
-
-
1Loss-
ANO8-
-
-
-
1Loss-
ANXA2R-
-
-
-
3Gain-
AOC1-
-
-
-
1Loss-
AOX1-
-
-
-
1Loss-
AP000275.2-
-
-
-
3Gain-
AP000295.1-
-
-
-
3Gain-
AP000311.1-
-
-
-
3Gain-
AP000553.1-
-
-
-
NDNDAP000553.1--AC091057.6
AP000553.1--AC091057.7
AP000646.1-
-
-
-
1Loss-
AP000812.4-
-
-
-
1Loss-
AP000812.5-
-
-
-
1Loss-
AP001267.5-
-
-
-
1Loss-
AP001273.2-
-
-
-
1Loss-
AP001781.2-
-
-
-
1Loss-
AP002373.1-
-
-
-
1Loss-
AP002495.1-
-
-
-
1Loss-
AP002884.3-
-
-
-
1Loss-
AP1M1-
-
-
-
1Loss-
AP1M2-
-
-
-
1Loss-
AP1S3-
-
-
-
1Loss-
AP2M1-
-
-
-
3Gain-
AP3B1-
-
-
-
1Loss-
AP3D1-
-
-
-
1Loss-
AP3S1-
-
-
-
1Loss-
AP4E1-
-
-
-
3Gain-
APAF1p.L823V
Missense
SNP
0.436
2--
APBA2-
-
-
-
1Loss-
APBA3-
-
-
-
1Loss-
APC-
-
-
-
1Loss-
APC2-
-
-
-
1Loss-
APCDD1-
-
-
-
1Loss-
APLP2-
-
-
-
1Loss-
APOA1-
-
-
-
1Loss-
APOA4-
-
-
-
1Loss-
APOA5-
-
-
-
1Loss-
APOBEC1-
-
-
-
1Loss-
APOC3-
-
-
-
1Loss-
APOD-
-
-
-
3Gain-
APOH-
-
-
-
3Gain-
APOLD1-
-
-
-
1Loss-
APPBP2-
-
-
-
3Gain-
APTX-
-
-
-
1Loss-
AQP11-
-
-
-
1Loss-
AQP12A-
-
-
-
1Loss-
AQP12B-
-
-
-
1Loss-
AQP3-
-
-
-
1Loss-
AQP4-
-
-
-
3Gain-
AQP7-
-
-
-
1Loss-
AQR-
-
-
-
3Gain-
ARAP1-
-
-
-
1Loss-
ARCN1-
-
-
-
1Loss-
ARF5-
-
-
-
1Loss-
ARGFX-
-
-
-
3Gain-
ARHGAP11A-
-
-
-
3Gain-
ARHGAP11B-
-
-
-
1Loss-
ARHGAP20-
-
-
-
1Loss-
ARHGAP28-
-
-
-
1Loss-
ARHGAP31-
-
-
-
3Gain-
ARHGAP32-
-
-
-
1Loss-
ARHGAP42-
-
-
-
1Loss-
ARHGAP44-
-
-
-
1Loss-
ARHGAP45-
-
-
-
1Loss-
ARHGAP5p.D952H
Missense
SNP
0.354
2--
ARHGDIB-
-
-
-
5Amp-
ARHGEF12-
-
-
-
1Loss-
ARHGEF15-
-
-
-
1Loss-
ARHGEF16-
-
-
-
3Gain-
ARHGEF17-
-
-
-
1Loss-
ARHGEF18-
-
-
-
1Loss-
ARHGEF26-
-
-
-
3Gain-
ARHGEF28-
-
-
-
1Loss-
ARHGEF35-
-
-
-
1Loss-
ARHGEF39-
-
-
-
1Loss-
ARHGEF5-
-
-
-
1Loss-
ARID3A-
-
-
-
1Loss-
ARID3C-
-
-
-
1Loss-
ARL13B-
-
-
-
3Gain-
ARL14-
-
-
-
3Gain-
ARL14EPL-
-
-
-
1Loss-
ARL15-
-
-
-
1Loss-
ARL17A-
-
-
-
1Loss-
ARL17B-
-
-
-
1Loss-
ARL4C-
-
-
-
1Loss-
ARL6-
-
-
-
3Gain-
ARL8B-
-
-
-
1Loss-
ARMC6-
-
-
-
1Loss-
ARMC8-
-
-
-
3Gain-
ARMC9-
-
-
-
1Loss-
ARPC2-
-
-
-
1Loss-
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARPP19-
-
-
-
3Gain-
ARPP21p.E318K
Missense
SNP
0.363
2--
ARRB1-
-
-
-
1Loss-
ARRB2-
-
-
-
1Loss-
ARRDC2-
-
-
-
1Loss-
ARRDC3-
-
-
-
1Loss-
ARRDC5-
-
-
-
1Loss-
ARSB-
-
-
-
1Loss-
ARSG-
-
-
-
3Gain-
ARSK-
-
-
-
1Loss-
ART4-
-
-
-
5Amp-
ARVCF-
-
-
-
3Gain-
ASB1-
-
-
-
1Loss-
ASB10-
-
-
-
1Loss-
ASB15-
-
-
-
1Loss-
ASB18-
-
-
-
1Loss-
ASF1B-
-
-
-
1Loss-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASIC3-
-
-
-
1Loss-
ASIC4-
-
-
-
1Loss-
ASNA1-
-
-
-
1Loss-
ASPA-
-
-
-
1Loss-
ASTE1-
-
-
-
3Gain-
ASXL3-
-
-
-
3Gain-
ASZ1-
-
-
-
1Loss-
ATAD3A-
-
-
-
3Gain-
ATAD3B-
-
-
-
3Gain-
ATAD3C-
-
-
-
3Gain-
ATCAY-
-
-
-
1Loss-
ATF7IP-
-
-
-
1Loss-
ATG10-
-
-
-
1Loss-
ATG12-
-
-
-
1Loss-
ATG16L1-
-
-
-
1Loss-
ATG16L2-
-
-
-
1Loss-
ATG2Bp.D1166N
Missense
SNP
0.458
2--
ATG3-
-
-
-
3Gain-
ATG4B-
-
-
-
1Loss-
ATG4D-
-
-
-
1Loss-
ATG7-
-
-
-
1Loss-
ATG9A-
-
-
-
1Loss-
ATG9B-
-
-
-
1Loss-
ATIC-
-
-
-
1Loss-
ATM-
-
-
-
1Loss-
ATN1-
-
-
-
1Loss-
ATP10A-
-
-
-
1Loss-
ATP11B-
-
-
-
3Gain-
ATP13A1-
-
-
-
1Loss-
ATP13A3-
-
-
-
3Gain-
ATP13A4p.L674F
Missense
SNP
0.286
3Gain-
ATP13A5-
-
-
-
3Gain-
ATP1B2-
-
-
-
1Loss-
ATP1B3-
-
-
-
3Gain-
ATP2A3-
-
-
-
1Loss-
ATP2B2-
-
-
-
1Loss-
ATP2B4p.E151*
Nonsense
SNP
0.373
2--
ATP2C1-
-
-
-
3Gain-
ATP5F1A-
-
-
-
3Gain-
ATP5F1D-
-
-
-
1Loss-
ATP5MC1-
-
-
-
3Gain-
ATP5MG-
-
-
-
1Loss-
ATP5PO-
-
-
-
3Gain-
ATP6AP1L-
-
-
-
1Loss-
ATP6V0A4-
-
-
-
1Loss-
ATP6V0E2-
-
-
-
1Loss-
ATP6V1A-
-
-
-
3Gain-
ATP6V1E1-
-
-
-
3Gain-
ATP6V1F-
-
-
-
1Loss-
ATP6V1FNB-
-
-
-
1Loss-
ATP8A2p.R93I
p.E138K
Missense
Missense
SNP
SNP
0.464
0.453
2--
ATP8B1-
-
-
-
3Gain-
ATP8B3-
-
-
-
1Loss-
ATP8B4-
-
-
-
3Gain-
ATP9B-
-
-
-
3Gain-
ATPAF2-
-
-
-
1Loss-
ATR-
-
-
-
3Gain-
AURKAIP1-
-
-
-
3Gain-
AURKB-
-
-
-
1Loss-
AUTS2-
-
-
-
1Loss-
AVEN-
-
-
-
3Gain-
AXIN2-
-
-
-
3Gain-
AZI2-
-
-
-
1Loss-
AZU1-
-
-
-
1Loss-
B2M-
-
-
-
3Gain-
B3GALNT1-
-
-
-
3Gain-
B3GALT5-
-
-
-
3Gain-
B3GALT6-
-
-
-
3Gain-
B3GAT1-
-
-
-
1Loss-
B3GNT3-
-
-
-
1Loss-
B3GNT5-
-
-
-
3Gain-
B3GNT6-
-
-
-
1Loss-
B3GNT7-
-
-
-
1Loss-
B4GALNT2p.R250K
Missense
SNP
0.301
3Gain-
B4GALNT3-
-
-
-
1Loss-
B4GALT1-
-
-
-
1Loss-
B4GALT4-
-
-
-
3Gain-
B4GALT6-
-
-
-
3Gain-
B9D1-
-
-
-
1Loss-
BABAM1-
-
-
-
1Loss-
BACE1-
-
-
-
1Loss-
BACE2-
-
-
-
3Gain-
BAG1-
-
-
-
1Loss-
BAHD1-
-
-
-
3Gain-
BARD1-
-
-
-
1Loss-
BARX2-
-
-
-
1Loss-
BASP1-
-
-
-
3Gain-
BAZ2Bp.H492Y
Missense
SNP
0.471
2--
BBX-
-
-
-
3Gain-
BCAS3-
-
-
-
3Gain-
BCHE-
-
-
-
3Gain-
BCL2-
-
-
-
3Gain-
BCL2L10-
-
-
-
3Gain-
BCL2L13-
-
-
-
3Gain-
BCL2L14-
-
-
-
1Loss-
BCL6-
-
-
-
3Gain-
BCL6B-
-
-
-
1Loss-
BCL9L-
-
-
-
1Loss-
BCO2-
-
-
-
1Loss-
BCS1L-
-
-
-
1Loss-
BDH1-
-
-
-
3Gain-
BDP1-
-
-
-
1Loss-
BEST2-
-
-
-
1Loss-
BFSP2p.X342_splice
Splice_Site
SNP
0.218
3Gain-
BHLHA9-
-
-
-
1Loss-
BHLHE40-
-
-
-
1Loss-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BID-
-
-
-
3Gain-
BIRC2-
-
-
-
1Loss-
BIRC3-
-
-
-
1Loss-
BIRC6p.R1230T
Missense
SNP
0.433
2--
BLID-
-
-
-
1Loss-
BLOC1S6-
-
-
-
3Gain-
BMF-
-
-
-
3Gain-
BMPR2-
-
-
-
1Loss-
BMT2-
-
-
-
1Loss-
BNC2-
-
-
-
1Loss-
BOC-
-
-
-
3Gain-
BOD1L2-
-
-
-
3Gain-
BOK-
-
-
-
1Loss-
BORCS5-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BORCS8-
-
-
-
1Loss-
BORCS8-MEF2B-
-
-
-
1Loss-
BPGM-
-
-
-
1Loss-
BPIFB1p.D405N
Missense
SNP
0.379
2--
BPTF-
-
-
-
3Gain-
BRAF-
-
-
-
1Loss-
BRD4-
-
-
-
1Loss-
BRD9-
-
-
-
3Gain-
BRIP1-
-
-
-
3Gain-
BRIX1-
-
-
-
3Gain-
BRK1-
-
-
-
1Loss-
BRPF1-
-
-
-
1Loss-
BRWD1-
-
-
-
3Gain-
BSG-
-
-
-
1Loss-
BSNp.E1135Q
Missense
SNP
0.465
2--
BST2-
-
-
-
1Loss-
BSX-
-
-
-
1Loss-
BTBD2-
-
-
-
1Loss-
BTD-
-
-
-
1Loss-
BTF3-
-
-
-
1Loss-
BTG4-
-
-
-
1Loss-
BTLA-
-
-
-
3Gain-
BTNL8p.Q119*
Nonsense
SNP
0.899
2--
BUB1Bp.D820H
Missense
SNP
0.210
3Gain-
BUB1B-PAK6-
-
-
-
3Gain-
BUD13-
-
-
-
1Loss-
BZW1-
-
-
-
1Loss-
C11orf1-
-
-
-
1Loss-
C11orf31p.C41S
Missense
SNP
0.410
NDND-
C11orf45-
-
-
-
1Loss-
C11orf52-
-
-
-
1Loss-
C11orf53-
-
-
-
1Loss-
C11orf54-
-
-
-
1Loss-
C11orf65-
-
-
-
1Loss-
C11orf71-
-
-
-
1Loss-
C11orf87-
-
-
-
1Loss-
C11orf88-
-
-
-
1Loss-
C11orf97-
-
-
-
1Loss-
C12orf4-
-
-
-
1Loss-
C12orf57-
-
-
-
1Loss-
C12orf60-
-
-
-
5Amp-
C15orf41-
-
-
-
3Gain-
C15orf48-
-
-
-
3Gain-
C15orf53-
-
-
-
3Gain-
C15orf62-
-
-
-
3Gain-
C16orf54p.E158K
Missense
SNP
0.479
2--
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf47-
-
-
-
3Gain-
C17orf49-
-
-
-
1Loss-
C17orf51-
-
-
-
1Loss-
C17orf58-
-
-
-
3Gain-
C17orf64-
-
-
-
3Gain-
C17orf67-
-
-
-
3Gain-
C17orf97-
-
-
-
1Loss-
C18orf21-
-
-
-
3Gain-
C18orf25-
-
-
-
3Gain-
C18orf32-
-
-
-
3Gain-
C18orf54-
-
-
-
3Gain-
C18orf63-
-
-
-
3Gain-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf38-
-
-
-
1Loss-
C19orf44-
-
-
-
1Loss-
C19orf53-
-
-
-
1Loss-
C19orf57-
-
-
-
1Loss-
C19orf66-
-
-
-
1Loss-
C19orf67-
-
-
-
1Loss-
C19orf70-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C1orf159-
-
-
-
3Gain-
C1orf174-
-
-
-
3Gain-
C1orf185p.S67F
Missense
SNP
0.887
2--
C1QBP-
-
-
-
1Loss-
C1QTNF12-
-
-
-
3Gain-
C1QTNF3-
-
-
-
3Gain-
C1QTNF3-AMACR-
-
-
-
3Gain-
C1QTNF5-
-
-
-
1Loss-
C1R-
-
-
-
1Loss-
C1RL-
-
-
-
1Loss-
C1S-
-
-
-
1Loss-
C20orf196p.P24S
Missense
SNP
0.491
NDND-
C21orf58-
-
-
-
3Gain-
C21orf62-
-
-
-
3Gain-
C22orf39-
-
-
-
3Gain-
C2CD2-
-
-
-
3Gain-
C2CD2L-
-
-
-
1Loss-
C2CD3-
-
-
-
1Loss-
C2CD4C-
-
-
-
1Loss-
C2CD5-
-
-
-
3Gain-
C2CD6-
-
-
-
1Loss-
C2orf69-
-
-
-
1Loss-
C2orf72-
-
-
-
1Loss-
C2orf80-
-
-
-
1Loss-
C2orf83-
-
-
-
1Loss-
C3-
-
-
-
1Loss-
C3AR1p.E406K
Missense
SNP
0.775
1Loss-
C3orf20-
-
-
-
1Loss-
C3orf22-
-
-
-
3Gain-
C3orf30-
-
-
-
3Gain-
C3orf33-
-
-
-
3Gain-
C3orf52-
-
-
-
3Gain-
C3orf56-
-
-
-
3Gain-
C3orf58-
-
-
-
3Gain-
C3orf70-
-
-
-
3Gain-
C3orf80-
-
-
-
3Gain-
C3orf85-
-
-
-
3Gain-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C5orf15-
-
-
-
1Loss-
C5orf22-
-
-
-
3Gain-
C5orf24-
-
-
-
1Loss-
C5orf30-
-
-
-
1Loss-
C5orf34-
-
-
-
3Gain-
C5orf38-
-
-
-
3Gain-
C5orf49-
-
-
-
3Gain-
C5orf51-
-
-
-
3Gain-
C5orf52p.R98H
Missense
SNP
0.896
2--
C5orf63-
-
-
-
1Loss-
C5orf67-
-
-
-
1Loss-
C6-
-
-
-
3Gain-
C7-
-
-
-
3Gain-
C7orf33-
-
-
-
1Loss-
C7orf55-LUC7L2-
-
-
-
1Loss-
C7orf57-
-
-
-
1Loss-
C7orf77-
-
-
-
1Loss-
C9-
-
-
-
3Gain-
C9orf131-
-
-
-
1Loss-
C9orf24-
-
-
-
1Loss-
C9orf3p.L472F
Missense
SNP
0.495
2--
C9orf66-
-
-
-
1Loss-
C9orf72-
-
-
-
1Loss-
C9orf92-
-
-
-
1Loss-
CA10-
-
-
-
3Gain-
CA4-
-
-
-
3Gain-
CA6-
-
-
-
3Gain-
CA9-
-
-
-
1Loss-
CAAP1-
-
-
-
1Loss-
CAB39-
-
-
-
1Loss-
CABLES1-
-
-
-
3Gain-
CABYR-
-
-
-
3Gain-
CACNA1A-
-
-
-
1Loss-
CACNA1C-
-
-
-
1Loss-
CACNA1Dp.F1115L
Missense
SNP
0.418
2--
CACNA1Ep.Y1761H
Missense
SNP
0.436
2--
CACNA1G-
-
-
-
3Gain-
CACNA2D4-
-
-
-
1Loss-
CACNG1-
-
-
-
3Gain-
CACNG4-
-
-
-
3Gain-
CACNG5-
-
-
-
3Gain-
CACTIN-
-
-
-
1Loss-
CADM1-
-
-
-
1Loss-
CADPS2-
-
-
-
1Loss-
CALCOCO2-
-
-
-
3Gain-
CALD1-
-
-
-
1Loss-
CALML6-
-
-
-
3Gain-
CALR-
-
-
-
1Loss-
CALR3-
-
-
-
1Loss-
CALU-
-
-
-
1Loss-
CALY-
-
-
-
1Loss-
CAMK1-
-
-
-
1Loss-
CAMK2N2-
-
-
-
3Gain-
CAMK4-
-
-
-
1Loss-
CAMKK1-
-
-
-
1Loss-
CAMLG-
-
-
-
1Loss-
CAMSAP3-
-
-
-
1Loss-
CAMTA1-
-
-
-
3Gain-
CAMTA2-
-
-
-
1Loss-
CAND2-
-
-
-
1Loss-
CAPN10-
-
-
-
1Loss-
CAPN3-
-
-
-
3Gain-
CAPN5-
-
-
-
1Loss-
CAPN7-
-
-
-
1Loss-
CAPRIN1p.E564K
Missense
SNP
0.411
2--
CAPS-
-
-
-
1Loss-
CAPSL-
-
-
-
3Gain-
CAPZA2-
-
-
-
1Loss-
CAPZA3-
-
-
-
3Gain-
CARD11p.E943Q
Missense
SNP
0.397
2--
CARD16-
-
-
-
1Loss-
CARD17-
-
-
-
1Loss-
CARD18-
-
-
-
1Loss-
CARD6-
-
-
-
3Gain-
CARF-
-
-
-
1Loss-
CARM1-
-
-
-
1Loss-
CARTPT-
-
-
-
1Loss-
CASC4-
-
-
-
3Gain-
CASP1-
-
-
-
1Loss-
CASP10-
-
-
-
1Loss-
CASP12-
-
-
-
1Loss-
CASP14-
-
-
-
1Loss-
CASP2-
-
-
-
1Loss-
CASP4-
-
-
-
1Loss-
CASP5-
-
-
-
1Loss-
CASP8-
-
-
-
1Loss-
CASR-
-
-
-
3Gain-
CAST-
-
-
-
1Loss-
CATIP-
-
-
-
1Loss-
CATSPER2-
-
-
-
3Gain-
CATSPER3-
-
-
-
1Loss-
CATSPERD-
-
-
-
1Loss-
CAV1-
-
-
-
1Loss-
CAV2-
-
-
-
1Loss-
CAV3-
-
-
-
1Loss-
CBARP-
-
-
-
1Loss-
CBL-
-
-
-
1Loss-
CBLB-
-
-
-
3Gain-
CBLL1p.E138Kfs*54
Frame_Shift_Del
DEL
0.311
2--
CBLN2-
-
-
-
3Gain-
CBR1-
-
-
-
3Gain-
CBR3-
-
-
-
3Gain-
CBS-
-
-
-
3Gain-
CBWD1-
-
-
-
1Loss-
CBWD3-
-
-
-
1Loss-
CBWD5-
-
-
-
1Loss-
CBWD6-
-
-
-
1Loss-
CBX1-
-
-
-
3Gain-
CC2D1A-
-
-
-
1Loss-
CCBE1-
-
-
-
3Gain-
CCDC102B-
-
-
-
3Gain-
CCDC105-
-
-
-
1Loss-
CCDC107-
-
-
-
1Loss-
CCDC112-
-
-
-
1Loss-
CCDC116-
-
-
-
3Gain-
CCDC124-
-
-
-
1Loss-
CCDC125-
-
-
-
1Loss-
CCDC127-
-
-
-
3Gain-
CCDC130-
-
-
-
1Loss-
CCDC136-
-
-
-
1Loss-
CCDC14-
-
-
-
3Gain-
CCDC140-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC15-
-
-
-
1Loss-
CCDC151-
-
-
-
1Loss-
CCDC152-
-
-
-
3Gain-
CCDC153-
-
-
-
1Loss-
CCDC159-
-
-
-
1Loss-
CCDC168p.L3249F
Missense
SNP
0.386
2--
CCDC171-
-
-
-
1Loss-
CCDC174-
-
-
-
1Loss-
CCDC178-
-
-
-
3Gain-
CCDC182-
-
-
-
3Gain-
CCDC188-
-
-
-
3Gain-
CCDC191-
-
-
-
3Gain-
CCDC194-
-
-
-
1Loss-
CCDC27-
-
-
-
3Gain-
CCDC32-
-
-
-
3Gain-
CCDC39-
-
-
-
3Gain-
CCDC42-
-
-
-
1Loss-
CCDC47-
-
-
-
3Gain-
CCDC50-
-
-
-
3Gain-
CCDC54-
-
-
-
3Gain-
CCDC58-
-
-
-
3Gain-
CCDC68-
-
-
-
3Gain-
CCDC74B-
-
-
-
1Loss-
CCDC77-
-
-
-
1Loss-
CCDC80-
-
-
-
3Gain-
CCDC81-
-
-
-
1Loss-
CCDC82-
-
-
-
1Loss-
CCDC83-
-
-
-
1Loss-
CCDC84-
-
-
-
1Loss-
CCDC89-
-
-
-
1Loss-
CCDC90B-
-
-
-
1Loss-
CCDC91p.E398K
Missense
SNP
0.416
2--
CCDC9B-
-
-
-
3Gain-
CCER1p.W26C
Missense
SNP
0.514
2--
CCIN-
-
-
-
1Loss-
CCL19-
-
-
-
1Loss-
CCL20-
-
-
-
1Loss-
CCL21-
-
-
-
1Loss-
CCL25-
-
-
-
1Loss-
CCL27-
-
-
-
1Loss-
CCL28-
-
-
-
3Gain-
CCM2-
-
-
-
1Loss-
CCNB1-
-
-
-
1Loss-
CCND1-
-
-
-
1Loss-
CCND2-
-
-
-
1Loss-
CCNDBP1-
-
-
-
3Gain-
CCNH-
-
-
-
1Loss-
CCNI2-
-
-
-
1Loss-
CCNL1-
-
-
-
3Gain-
CCNL2p.D290N
Missense
SNP
0.430
3Gain-
CCNYL1-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCT5-
-
-
-
3Gain-
CCT8L2-
-
-
-
3Gain-
CD163-
-
-
-
1Loss-
CD163L1-
-
-
-
1Loss-
CD180-
-
-
-
1Loss-
CD200-
-
-
-
3Gain-
CD200R1-
-
-
-
3Gain-
CD200R1L-
-
-
-
3Gain-
CD209-
-
-
-
1Loss-
CD226-
-
-
-
3Gain-
CD27-
-
-
-
1Loss-
CD274-
-
-
-
1Loss-
CD28-
-
-
-
1Loss-
CD320-
-
-
-
1Loss-
CD3D-
-
-
-
1Loss-
CD3E-
-
-
-
1Loss-
CD3G-
-
-
-
1Loss-
CD4-
-
-
-
1Loss-
CD47-
-
-
-
3Gain-
CD68-
-
-
-
1Loss-
CD69-
-
-
-
1Loss-
CD70-
-
-
-
1Loss-
CD72-
-
-
-
1Loss-
CD79B-
-
-
-
3Gain-
CD80-
-
-
-
3Gain-
CD86-
-
-
-
3Gain-
CD9-
-
-
-
1Loss-
CD96-
-
-
-
3Gain-
CDAN1-
-
-
-
3Gain-
CDC14C-
-
-
-
1Loss-
CDC16p.E206D
Missense
SNP
0.483
2--
CDC34-
-
-
-
1Loss-
CDC37-
-
-
-
1Loss-
CDC37L1-
-
-
-
1Loss-
CDC42SE2-
-
-
-
1Loss-
CDC45-
-
-
-
3Gain-
CDC6-
-
-
-
2-CDC6--RAPGEFL1
CDCA3-
-
-
-
1Loss-
CDH10-
-
-
-
3Gain-
CDH12-
-
-
-
3Gain-
CDH18-
-
-
-
3Gain-
CDH19-
-
-
-
3Gain-
CDH2-
-
-
-
3Gain-
CDH20-
-
-
-
3Gain-
CDH6-
-
-
-
3Gain-
CDH7-
-
-
-
3Gain-
CDH9-
-
-
-
3Gain-
CDK11A-
-
-
-
3Gain-
CDK11B-
-
-
-
3Gain-
CDK15-
-
-
-
1Loss-
CDK5-
-
-
-
1Loss-
CDK5R2-
-
-
-
1Loss-
CDK5RAP3-
-
-
-
3Gain-
CDK7-
-
-
-
1Loss-
CDKL3-
-
-
-
1Loss-
CDKN1B-
-
-
-
1Loss-
CDKN2A-
-
-
-
1Loss-
CDKN2AIPNL-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDKN2D-
-
-
-
1Loss-
CDO1-
-
-
-
1Loss-
CDON-
-
-
-
1Loss-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDV3-
-
-
-
3Gain-
CEBPBp.A47E
Missense
SNP
0.400
2--
CECR2-
-
-
-
3Gain-
CELF4-
-
-
-
3Gain-
CELF5-
-
-
-
1Loss-
CENPH-
-
-
-
1Loss-
CENPK-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CEP104-
-
-
-
3Gain-
CEP112-
-
-
-
3Gain-
CEP120-
-
-
-
1Loss-
CEP126-
-
-
-
1Loss-
CEP152-
-
-
-
3Gain-
CEP164-
-
-
-
1Loss-
CEP170Bp.K368Nfs*25
Frame_Shift_Del
DEL
0.481
2--
CEP19-
-
-
-
3Gain-
CEP192-
-
-
-
1Loss-
CEP295-
-
-
-
1Loss-
CEP41-
-
-
-
1Loss-
CEP55p.L351V
Missense
SNP
0.414
2--
CEP57-
-
-
-
1Loss-
CEP63-
-
-
-
3Gain-
CEP70-
-
-
-
3Gain-
CEP72-
-
-
-
3Gain-
CEP76-
-
-
-
1Loss-
CEP95-
-
-
-
3Gain-
CEP97-
-
-
-
3Gain-
CER1-
-
-
-
1Loss-
CERS1-
-
-
-
1Loss-
CERS4-
-
-
-
1Loss-
CETN1-
-
-
-
1Loss-
CETN3-
-
-
-
1Loss-
CFAP100-
-
-
-
3Gain-
CFAP298-
-
-
-
3Gain-
CFAP300-
-
-
-
1Loss-
CFAP410-
-
-
-
3Gain-
CFAP44-
-
-
-
3Gain-
CFAP46-
-
-
-
1Loss-
CFAP52-
-
-
-
1Loss-
CFAP53p.I83M
Missense
SNP
0.307
3Gain-
CFAP65-
-
-
-
1Loss-
CFAP74-
-
-
-
3Gain-
CFD-
-
-
-
1Loss-
CFLAR-
-
-
-
1Loss-
CFTRp.E185Q
Missense
SNP
0.758
1Loss-
CHAC1-
-
-
-
3Gain-
CHAD-
-
-
-
3Gain-
CHAF1Ap.E441K
Missense
SNP
0.818
1Loss-
CHAF1B-
-
-
-
3Gain-
CHCHD3-
-
-
-
1Loss-
CHCHD4-
-
-
-
1Loss-
CHCHD6-
-
-
-
3Gain-
CHD1-
-
-
-
1Loss-
CHD3-
-
-
-
1Loss-
CHD4-
-
-
-
1Loss-
CHD5-
-
-
-
3Gain-
CHEK1-
-
-
-
1Loss-
CHERPp.Q847E
Missense
SNP
0.753
1Loss-
CHFRp.L546V
Missense
SNP
0.457
2--
CHL1-
-
-
-
1Loss-
CHMP1B-
-
-
-
1Loss-
CHMP5-
-
-
-
1Loss-
CHORDC1-
-
-
-
1Loss-
CHP1-
-
-
-
3Gain-
CHPF-
-
-
-
1Loss-
CHPF2-
-
-
-
1Loss-
CHRD-
-
-
-
3Gain-
CHRDL2-
-
-
-
1Loss-
CHRFAM7A-
-
-
-
1Loss-
CHRM2-
-
-
-
1Loss-
CHRM5-
-
-
-
3Gain-
CHRNA7-
-
-
-
3Gain-
CHRNB1-
-
-
-
1Loss-
CHRND-
-
-
-
1Loss-
CHRNE-
-
-
-
1Loss-
CHRNG-
-
-
-
1Loss-
CHST13-
-
-
-
3Gain-
CHST14-
-
-
-
3Gain-
CHST2-
-
-
-
3Gain-
CHST9-
-
-
-
3Gain-
CHSY3-
-
-
-
1Loss-
CHTF8p.K487N
Missense
SNP
0.350
2--
CIB3-
-
-
-
1Loss-
CIDEA-
-
-
-
1Loss-
CIDEC-
-
-
-
1Loss-
CILP2-
-
-
-
1Loss-
CIP2A-
-
-
-
3Gain-
CIRBP-
-
-
-
1Loss-
CKMT1A-
-
-
-
3Gain-
CKMT1B-
-
-
-
3Gain-
CKMT2-
-
-
-
1Loss-
CLCN1-
-
-
-
1Loss-
CLCN2-
-
-
-
3Gain-
CLDN1-
-
-
-
3Gain-
CLDN11-
-
-
-
3Gain-
CLDN14-
-
-
-
3Gain-
CLDN16-
-
-
-
3Gain-
CLDN18-
-
-
-
3Gain-
CLDN25-
-
-
-
1Loss-
CLDN5-
-
-
-
3Gain-
CLDN7-
-
-
-
1Loss-
CLDND1-
-
-
-
3Gain-
CLEC10A-
-
-
-
1Loss-
CLEC12A-
-
-
-
1Loss-
CLEC12B-
-
-
-
1Loss-
CLEC17A-
-
-
-
1Loss-
CLEC1A-
-
-
-
1Loss-
CLEC1B-
-
-
-
1Loss-
CLEC2A-
-
-
-
1Loss-
CLEC2B-
-
-
-
1Loss-
CLEC2D-
-
-
-
1Loss-
CLEC2L-
-
-
-
1Loss-
CLEC4A-
-
-
-
1Loss-
CLEC4C-
-
-
-
1Loss-
CLEC4D-
-
-
-
1Loss-
CLEC4E-
-
-
-
1Loss-
CLEC4G-
-
-
-
1Loss-
CLEC4M-
-
-
-
1Loss-
CLEC5A-
-
-
-
1Loss-
CLEC6A-
-
-
-
1Loss-
CLEC7A-
-
-
-
1Loss-
CLEC9A-
-
-
-
1Loss-
CLECL1-
-
-
-
1Loss-
CLIC6-
-
-
-
3Gain-
CLK1-
-
-
-
1Loss-
CLMP-
-
-
-
1Loss-
CLNS1A-
-
-
-
1Loss-
CLPB-
-
-
-
1Loss-
CLPP-
-
-
-
1Loss-
CLPTM1L-
-
-
-
3Gain-
CLRN1-
-
-
-
3Gain-
CLSTN2-
-
-
-
3Gain-
CLSTN3-
-
-
-
1Loss-
CLTA-
-
-
-
1Loss-
CLTC-
-
-
-
3Gain-
CLTCL1-
-
-
-
3Gain-
CLUH-
-
-
-
1Loss-
CLUL1-
-
-
-
1Loss-
CMAS-
-
-
-
3Gain-
CMBL-
-
-
-
3Gain-
CMC1-
-
-
-
1Loss-
CMSS1-
-
-
-
3Gain-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CMYA5-
-
-
-
1Loss-
CNBP-
-
-
-
3Gain-
CNDP1-
-
-
-
3Gain-
CNDP2-
-
-
-
3Gain-
CNN1-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNNM1p.E646*
p.D650N
Nonsense
Missense
SNP
SNP
0.458
0.484
2--
CNOT10-
-
-
-
1Loss-
CNOT4-
-
-
-
1Loss-
CNOT9-
-
-
-
1Loss-
CNPPD1-
-
-
-
1Loss-
CNPY1-
-
-
-
1Loss-
CNTFR-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTN4-
-
-
-
1Loss-
CNTN5-
-
-
-
1Loss-
CNTN6-
-
-
-
1Loss-
CNTNAP2-
-
-
-
1Loss-
CNTNAP3-
-
-
-
1Loss-
CNTNAP3B-
-
-
-
1Loss-
CNTNAP3C-
-
-
-
1Loss-
CNTROB-
-
-
-
1Loss-
COA4-
-
-
-
1Loss-
COBL-
-
-
-
1Loss-
COIL-
-
-
-
3Gain-
COL18A1-
-
-
-
3Gain-
COL1A1-
-
-
-
3Gain-
COL4A3-
-
-
-
1Loss-
COL4A3BP-
-
-
-
1Loss-
COL4A4-
-
-
-
1Loss-
COL5A3-
-
-
-
1Loss-
COL6A1p.R565P
Missense
SNP
0.494
3Gain-
COL6A2-
-
-
-
3Gain-
COL6A3-
-
-
-
1Loss-
COL6A5-
-
-
-
3Gain-
COL6A6-
-
-
-
3Gain-
COL8A1-
-
-
-
3Gain-
COLCA2-
-
-
-
1Loss-
COLEC12-
-
-
-
1Loss-
COLGALT1-
-
-
-
1Loss-
COLQ-
-
-
-
1Loss-
COMMD10-
-
-
-
1Loss-
COMMD2-
-
-
-
3Gain-
COMP-
-
-
-
1Loss-
COMT-
-
-
-
3Gain-
COP1-
-
-
-
2-MYL6--COP1
COPB2-
-
-
-
3Gain-
COPE-
-
-
-
1Loss-
COPG1-
-
-
-
3Gain-
COPG2-
-
-
-
1Loss-
COPS2-
-
-
-
3Gain-
COPS3-
-
-
-
1Loss-
COPS7A-
-
-
-
1Loss-
COPS7B-
-
-
-
1Loss-
COPS8-
-
-
-
1Loss-
COPS9-
-
-
-
1Loss-
COPZ2-
-
-
-
3Gain-
COX10-
-
-
-
1Loss-
COX11-
-
-
-
3Gain-
COX17-
-
-
-
3Gain-
COX7C-
-
-
-
1Loss-
CP-
-
-
-
3Gain-
CPA1-
-
-
-
1Loss-
CPA2-
-
-
-
1Loss-
CPA3p.R341G
Missense
SNP
0.288
3Gain-
CPA4-
-
-
-
1Loss-
CPA5-
-
-
-
1Loss-
CPA6p.E51K
Missense
SNP
0.364
2--
CPAMD8-
-
-
-
1Loss-
CPB1-
-
-
-
3Gain-
CPED1-
-
-
-
1Loss-
CPLANE1-
-
-
-
3Gain-
CPLX4-
-
-
-
3Gain-
CPN2-
-
-
-
3Gain-
CPNE4-
-
-
-
3Gain-
CPNE9-
-
-
-
1Loss-
CPO-
-
-
-
1Loss-
CPOX-
-
-
-
3Gain-
CPS1-
-
-
-
1Loss-
CPT1A-
-
-
-
1Loss-
CPTP-
-
-
-
3Gain-
CRACR2A-
-
-
-
1Loss-
CRB3-
-
-
-
1Loss-
CRBN-
-
-
-
1Loss-
CREB1-
-
-
-
1Loss-
CREB3-
-
-
-
1Loss-
CREB3L2-
-
-
-
1Loss-
CREB3L3-
-
-
-
1Loss-
CREBL2-
-
-
-
1Loss-
CREBRFp.E383Q
Missense
SNP
0.428
2--
CREBZF-
-
-
-
1Loss-
CRELD1-
-
-
-
1Loss-
CRHBP-
-
-
-
1Loss-
CRK-
-
-
-
1Loss-
CRKL-
-
-
-
3Gain-
CRLF1-
-
-
-
1Loss-
CRNN-
-
-
-
4Gain-
CROCC-
-
-
-
0Del-
CROCC2-
-
-
-
1Loss-
CRTAM-
-
-
-
1Loss-
CRTAP-
-
-
-
1Loss-
CRTC1-
-
-
-
1Loss-
CRYAA-
-
-
-
3Gain-
CRYAB-
-
-
-
1Loss-
CRYBA2-
-
-
-
1Loss-
CRYBG3-
-
-
-
3Gain-
CRYGA-
-
-
-
1Loss-
CRYGB-
-
-
-
1Loss-
CRYGC-
-
-
-
1Loss-
CRYGD-
-
-
-
1Loss-
CRYGN-
-
-
-
1Loss-
CRYGS-
-
-
-
3Gain-
CRYZL1-
-
-
-
3Gain-
CSF2-
-
-
-
1Loss-
CSH1-
-
-
-
3Gain-
CSH2-
-
-
-
3Gain-
CSHL1-
-
-
-
3Gain-
CSNK1G2-
-
-
-
1Loss-
CSNK1G3-
-
-
-
1Loss-
CST2p.R130K
Missense
SNP
0.397
2--
CSTA-
-
-
-
3Gain-
CSTB-
-
-
-
3Gain-
CTAGE1-
-
-
-
3Gain-
CTAGE15-
-
-
-
1Loss-
CTAGE4-
-
-
-
1Loss-
CTAGE6-
-
-
-
1Loss-
CTAGE8-
-
-
-
1Loss-
CTC1-
-
-
-
1Loss-
CTDNEP1-
-
-
-
1Loss-
CTDP1-
-
-
-
3Gain-
CTDSP1-
-
-
-
1Loss-
CTDSPL2-
-
-
-
3Gain-
CTIF-
-
-
-
3Gain-
CTLA4-
-
-
-
1Loss-
CTNND2-
-
-
-
3Gain-
CTNS-
-
-
-
1Loss-
CTSC-
-
-
-
1Loss-
CTTN-
-
-
-
1Loss-
CTTNBP2-
-
-
-
1Loss-
CTXN1-
-
-
-
1Loss-
CTXN2-
-
-
-
3Gain-
CTXN3-
-
-
-
1Loss-
CUEDC1-
-
-
-
3Gain-
CUL1-
-
-
-
1Loss-
CUL3-
-
-
-
1Loss-
CUL5-
-
-
-
1Loss-
CWC15-
-
-
-
1Loss-
CWC27-
-
-
-
1Loss-
CWF19L2-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCR1-
-
-
-
1Loss-
CXCR2-
-
-
-
1Loss-
CXCR5-
-
-
-
1Loss-
CXXC1-
-
-
-
3Gain-
CYB561-
-
-
-
3Gain-
CYB5A-
-
-
-
3Gain-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYFIP1-
-
-
-
1Loss-
CYP19A1-
-
-
-
3Gain-
CYP20A1-
-
-
-
1Loss-
CYP21A2-
-
-
-
1Loss-
CYP27A1-
-
-
-
1Loss-
CYP2E1-
-
-
-
1Loss-
CYP4F11-
-
-
-
1Loss-
CYP4F12-
-
-
-
1Loss-
CYP4F2-
-
-
-
1Loss-
CYP4F22-
-
-
-
1Loss-
CYP4F3-
-
-
-
1Loss-
CYP4F8-
-
-
-
1Loss-
CYREN-
-
-
-
1Loss-
D2HGDH-
-
-
-
1Loss-
DAB2-
-
-
-
3Gain-
DAND5-
-
-
-
1Loss-
DAP-
-
-
-
3Gain-
DAPK3-
-
-
-
1Loss-
DAW1-
-
-
-
1Loss-
DAZAP1-
-
-
-
1Loss-
DAZL-
-
-
-
1Loss-
DBR1-
-
-
-
3Gain-
DCAF10-
-
-
-
1Loss-
DCAF12-
-
-
-
1Loss-
DCAF15-
-
-
-
1Loss-
DCAF5p.E759K
Missense
SNP
0.363
2--
DCAF7-
-
-
-
3Gain-
DCBLD2-
-
-
-
3Gain-
DCC-
-
-
-
3Gain-
DCP1B-
-
-
-
1Loss-
DCP2-
-
-
-
1Loss-
DCPS-
-
-
-
1Loss-
DCTp.D67N
Missense
SNP
0.366
2--
DCTN3-
-
-
-
1Loss-
DCUN1D1-
-
-
-
3Gain-
DCUN1D5-
-
-
-
1Loss-
DCXRp.Q41*
Nonsense
SNP
0.467
2--
DDA1-
-
-
-
1Loss-
DDC-
-
-
-
1Loss-
DDI1-
-
-
-
1Loss-
DDIAS-
-
-
-
1Loss-
DDX10-
-
-
-
1Loss-
DDX25-
-
-
-
1Loss-
DDX39A-
-
-
-
1Loss-
DDX42-
-
-
-
3Gain-
DDX46-
-
-
-
1Loss-
DDX47-
-
-
-
1Loss-
DDX49-
-
-
-
1Loss-
DDX5-
-
-
-
3Gain-
DDX56-
-
-
-
1Loss-
DDX58-
-
-
-
1Loss-
DDX6-
-
-
-
1Loss-
DENND1C-
-
-
-
1Loss-
DENND2A-
-
-
-
1Loss-
DENND2Cp.S468C
Missense
SNP
0.399
2--
DENND4C-
-
-
-
1Loss-
DEPDC1B-
-
-
-
1Loss-
DERA-
-
-
-
5Amp-
DERL2-
-
-
-
1Loss-
DES-
-
-
-
1Loss-
DEUP1-
-
-
-
1Loss-
DFFB-
-
-
-
3Gain-
DGAT2-
-
-
-
1Loss-
DGCR2-
-
-
-
3Gain-
DGCR6-
-
-
-
3Gain-
DGCR6L-
-
-
-
3Gain-
DGCR8-
-
-
-
3Gain-
DGKD-
-
-
-
1Loss-
DGKE-
-
-
-
3Gain-
DGKG-
-
-
-
3Gain-
DGKI-
-
-
-
1Loss-
DHCR7-
-
-
-
1Loss-
DHFR-
-
-
-
1Loss-
DHFR2-
-
-
-
3Gain-
DHPS-
-
-
-
1Loss-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX36-
-
-
-
3Gain-
DHX40-
-
-
-
3Gain-
DIMT1-
-
-
-
1Loss-
DIP2A-
-
-
-
3Gain-
DIP2Bp.E1117K
Missense
SNP
0.447
2--
DIRAS1-
-
-
-
1Loss-
DIRC2-
-
-
-
3Gain-
DIS3L2-
-
-
-
1Loss-
DISP2-
-
-
-
3Gain-
DIXDC1-
-
-
-
1Loss-
DLAT-
-
-
-
1Loss-
DLG1-
-
-
-
3Gain-
DLG2-
-
-
-
1Loss-
DLG4-
-
-
-
1Loss-
DLGAP1-
-
-
-
1Loss-
DLL4-
-
-
-
3Gain-
DLX3-
-
-
-
3Gain-
DLX4-
-
-
-
3Gain-
DMAC1-
-
-
-
1Loss-
DMGDH-
-
-
-
1Loss-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMXL1-
-
-
-
1Loss-
DMXL2-
-
-
-
3Gain-
DNAH11p.D3890H
Missense
SNP
0.491
2--
DNAH2-
-
-
-
1Loss-
DNAH5-
-
-
-
3Gain-
DNAH9-
-
-
-
1Loss-
DNAI1-
-
-
-
1Loss-
DNAJA1-
-
-
-
1Loss-
DNAJB1-
-
-
-
1Loss-
DNAJB11-
-
-
-
3Gain-
DNAJB13-
-
-
-
1Loss-
DNAJB2-
-
-
-
1Loss-
DNAJB5-
-
-
-
1Loss-
DNAJB6-
-
-
-
1Loss-
DNAJB8-
-
-
-
3Gain-
DNAJC11-
-
-
-
3Gain-
DNAJC13-
-
-
-
3Gain-
DNAJC17-
-
-
-
3Gain-
DNAJC19-
-
-
-
3Gain-
DNAJC21-
-
-
-
3Gain-
DNAJC27p.X177_splice
Splice_Site
SNP
0.425
2--
DNAJC28-
-
-
-
3Gain-
DNASE2-
-
-
-
1Loss-
DNER-
-
-
-
1Loss-
DNM2-
-
-
-
1Loss-
DNMT1-
-
-
-
1Loss-
DNPEP-
-
-
-
1Loss-
DOC2Bp.I30M
Missense
SNP
0.818
1Loss-
DOCK10-
-
-
-
1Loss-
DOCK4-
-
-
-
1Loss-
DOCK6-
-
-
-
1Loss-
DOCK7p.S1058*
Nonsense
SNP
0.449
2--
DOCK8-
-
-
-
1Loss-
DOHH-
-
-
-
1Loss-
DOK6-
-
-
-
3Gain-
DONSON-
-
-
-
3Gain-
DOP1B-
-
-
-
3Gain-
DOT1L-
-
-
-
1Loss-
DPAGT1-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPH3-
-
-
-
1Loss-
DPH6-
-
-
-
3Gain-
DPP6-
-
-
-
1Loss-
DPP9-
-
-
-
1Loss-
DPPA2-
-
-
-
3Gain-
DPPA3-
-
-
-
1Loss-
DPPA4-
-
-
-
3Gain-
DRC3-
-
-
-
1Loss-
DRD2-
-
-
-
1Loss-
DRD3-
-
-
-
3Gain-
DRG2-
-
-
-
1Loss-
DROSHA-
-
-
-
3Gain-
DSC1-
-
-
-
3Gain-
DSC2-
-
-
-
3Gain-
DSC3-
-
-
-
3Gain-
DSCAM-
-
-
-
3Gain-
DSCAML1-
-
-
-
1Loss-
DSEL-
-
-
-
3Gain-
DSG1-
-
-
-
3Gain-
DSG2-
-
-
-
3Gain-
DSG3-
-
-
-
3Gain-
DSG4-
-
-
-
3Gain-
DTNA-
-
-
-
3Gain-
DTWD1-
-
-
-
3Gain-
DTWD2-
-
-
-
1Loss-
DTX3L-
-
-
-
3Gain-
DTYMK-
-
-
-
1Loss-
DUOX1-
-
-
-
3Gain-
DUOX2-
-
-
-
3Gain-
DUOXA1-
-
-
-
3Gain-
DUOXA2-
-
-
-
3Gain-
DUS3L-
-
-
-
1Loss-
DUSP16-
-
-
-
1Loss-
DUSP28-
-
-
-
1Loss-
DUT-
-
-
-
3Gain-
DVL1-
-
-
-
3Gain-
DVL2-
-
-
-
1Loss-
DVL3-
-
-
-
3Gain-
DYM-
-
-
-
3Gain-
DYNAP-
-
-
-
3Gain-
DYNC1LI1-
-
-
-
1Loss-
DYNC2H1-
-
-
-
1Loss-
DYNLL2-
-
-
-
3Gain-
DYRK1A-
-
-
-
3Gain-
DYRK4-
-
-
-
1Loss-
DYTN-
-
-
-
1Loss-
DZIP1L-
-
-
-
3Gain-
DZIP3-
-
-
-
3Gain-
EAF1-
-
-
-
1Loss-
EAF2-
-
-
-
3Gain-
EBI3-
-
-
-
1Loss-
ECE2p.R731C
Missense
SNP
0.377
3Gain-
ECEL1-
-
-
-
1Loss-
ECHS1-
-
-
-
1Loss-
ECM1p.S552L
Missense
SNP
0.486
2--
ECSIT-
-
-
-
1Loss-
ECT2-
-
-
-
3Gain-
EDAp.S81L
Missense
SNP
0.926
NDND-
EDEM1-
-
-
-
1Loss-
EDIL3-
-
-
-
1Loss-
EED-
-
-
-
1Loss-
EEF1AKMT4-
-
-
-
3Gain-
EEF1AKMT4-ECE2-
-
-
-
3Gain-
EEF1B2-
-
-
-
1Loss-
EEF2-
-
-
-
1Loss-
EEFSEC-
-
-
-
3Gain-
EFCAB12-
-
-
-
3Gain-
EFCAB3-
-
-
-
3Gain-
EFCC1-
-
-
-
3Gain-
EFHB-
-
-
-
1Loss-
EFHD1-
-
-
-
1Loss-
EFNA2-
-
-
-
1Loss-
EFNA5-
-
-
-
1Loss-
EFNB3-
-
-
-
1Loss-
EGFLAM-
-
-
-
3Gain-
EHD4-
-
-
-
3Gain-
EHHADH-
-
-
-
3Gain-
EI24-
-
-
-
1Loss-
EID1-
-
-
-
3Gain-
EIF2A-
-
-
-
3Gain-
EIF2AK4-
-
-
-
3Gain-
EIF2B5-
-
-
-
3Gain-
EIF2S3B-
-
-
-
1Loss-
EIF3G-
-
-
-
1Loss-
EIF3J-
-
-
-
3Gain-
EIF4A1-
-
-
-
1Loss-
EIF4A2-
-
-
-
3Gain-
EIF4E2-
-
-
-
1Loss-
EIF4G1-
-
-
-
3Gain-
EIF5A-
-
-
-
1Loss-
EIF5A2-
-
-
-
3Gain-
ELAC1-
-
-
-
3Gain-
ELAC2-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL1-
-
-
-
1Loss-
ELAVL2-
-
-
-
1Loss-
ELAVL3-
-
-
-
1Loss-
ELL-
-
-
-
1Loss-
ELL2-
-
-
-
1Loss-
ELL3-
-
-
-
3Gain-
ELMOD1-
-
-
-
1Loss-
ELOA2-
-
-
-
1Loss-
ELOA3-
-
-
-
1Loss-
ELOA3B-
-
-
-
1Loss-
ELOA3C-
-
-
-
1Loss-
ELOA3D-
-
-
-
1Loss-
ELOF1-
-
-
-
1Loss-
ELOVL7-
-
-
-
1Loss-
ELP2-
-
-
-
3Gain-
ELP5-
-
-
-
1Loss-
EMB-
-
-
-
1Loss-
EMC3-
-
-
-
1Loss-
EMC4-
-
-
-
3Gain-
EMC6-
-
-
-
1Loss-
EMC7-
-
-
-
3Gain-
EME1-
-
-
-
3Gain-
EMG1-
-
-
-
1Loss-
EMILIN2-
-
-
-
1Loss-
EML2p.G126A
Missense
SNP
0.457
2--
EMP1-
-
-
-
1Loss-
EMSY-
-
-
-
1Loss-
EN2-
-
-
-
1Loss-
ENC1-
-
-
-
1Loss-
ENDOD1-
-
-
-
1Loss-
ENHO-
-
-
-
1Loss-
ENO1-
-
-
-
3Gain-
ENO2-
-
-
-
1Loss-
ENO3-
-
-
-
1Loss-
ENOSF1-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EPB41L3-
-
-
-
1Loss-
EPB41L4A-
-
-
-
1Loss-
EPB41L4Bp.Q864H
Missense
SNP
0.451
2--
EPB42-
-
-
-
3Gain-
EPG5-
-
-
-
3Gain-
EPHA1-
-
-
-
1Loss-
EPHA4-
-
-
-
1Loss-
EPHA6-
-
-
-
3Gain-
EPHB1-
-
-
-
3Gain-
EPHB3-
-
-
-
3Gain-
EPHB6-
-
-
-
1Loss-
EPHX3-
-
-
-
1Loss-
EPN2-
-
-
-
1Loss-
EPN3-
-
-
-
3Gain-
EPOR-
-
-
-
1Loss-
EPS15L1-
-
-
-
1Loss-
EPS8-
-
-
-
5Amp-
EPX-
-
-
-
3Gain-
EQTN-
-
-
-
1Loss-
ERAP1-
-
-
-
1Loss-
ERAP2-
-
-
-
1Loss-
ERBB4-
-
-
-
1Loss-
ERBIN-
-
-
-
1Loss-
ERC1-
-
-
-
1Loss-
ERCC8-
-
-
-
1Loss-
ERFE-
-
-
-
1Loss-
ERG-
-
-
-
3Gain-
ERICH6-
-
-
-
3Gain-
ERICH6Bp.L489F
Missense
SNP
0.367
2--
ERMP1-
-
-
-
1Loss-
ERN1-
-
-
-
3Gain-
ERP27-
-
-
-
5Amp-
ERRFI1-
-
-
-
3Gain-
ESAM-
-
-
-
1Loss-
ESCO1-
-
-
-
3Gain-
ESD-
-
-
-
1Loss-
ESPN-
-
-
-
3Gain-
ESPNL-
-
-
-
1Loss-
ESS2-
-
-
-
3Gain-
ESYT2-
-
-
-
1Loss-
ESYT3-
-
-
-
3Gain-
ETNK1-
-
-
-
3Gain-
ETS1-
-
-
-
1Loss-
ETS2-
-
-
-
3Gain-
ETV5-
-
-
-
3Gain-
ETV6-
-
-
-
1Loss-
EVA1C-
-
-
-
3Gain-
EVI5Lp.R534Q
Missense
SNP
0.805
1Loss-
EVPLL-
-
-
-
1Loss-
EVX2p.S330C
Missense
SNP
0.500
2--
EXD1-
-
-
-
3Gain-
EXOC3-
-
-
-
3Gain-
EXOC4-
-
-
-
1Loss-
EXOSC3-
-
-
-
1Loss-
EXPH5-
-
-
-
1Loss-
EZH2-
-
-
-
1Loss-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
F2RL3-
-
-
-
1Loss-
F5p.D1777N
Missense
SNP
0.365
2--
FAAP20-
-
-
-
3Gain-
FADD-
-
-
-
1Loss-
FAIM-
-
-
-
3Gain-
FAM117A-
-
-
-
3Gain-
FAM117B-
-
-
-
1Loss-
FAM118B-
-
-
-
1Loss-
FAM124B-
-
-
-
1Loss-
FAM126B-
-
-
-
1Loss-
FAM129C-
-
-
-
1Loss-
FAM131A-
-
-
-
3Gain-
FAM131B-
-
-
-
1Loss-
FAM151B-
-
-
-
1Loss-
FAM162A-
-
-
-
3Gain-
FAM166B-
-
-
-
1Loss-
FAM168A-
-
-
-
1Loss-
FAM169A-
-
-
-
1Loss-
FAM170A-
-
-
-
1Loss-
FAM172A-
-
-
-
1Loss-
FAM173B-
-
-
-
3Gain-
FAM174A-
-
-
-
1Loss-
FAM180A-
-
-
-
1Loss-
FAM181B-
-
-
-
1Loss-
FAM185A-
-
-
-
1Loss-
FAM188Ap.S69L
Missense
SNP
0.449
NDND-
FAM189A1-
-
-
-
1Loss-
FAM205A-
-
-
-
1Loss-
FAM205C-
-
-
-
1Loss-
FAM207A-
-
-
-
3Gain-
FAM20A-
-
-
-
3Gain-
FAM210A-
-
-
-
1Loss-
FAM214A-
-
-
-
3Gain-
FAM214B-
-
-
-
1Loss-
FAM219A-
-
-
-
1Loss-
FAM221B-
-
-
-
1Loss-
FAM227B-
-
-
-
3Gain-
FAM234B-
-
-
-
1Loss-
FAM237A-
-
-
-
1Loss-
FAM243A-
-
-
-
3Gain-
FAM32A-
-
-
-
1Loss-
FAM3B-
-
-
-
3Gain-
FAM3C-
-
-
-
1Loss-
FAM43A-
-
-
-
3Gain-
FAM57A-
-
-
-
1Loss-
FAM69C-
-
-
-
3Gain-
FAM71F1-
-
-
-
1Loss-
FAM71F2-
-
-
-
1Loss-
FAM76B-
-
-
-
1Loss-
FAM81B-
-
-
-
1Loss-
FAM83G-
-
-
-
1Loss-
FAM86C1-
-
-
-
1Loss-
FAM95C-
-
-
-
1Loss-
FAM98B-
-
-
-
3Gain-
FAN1-
-
-
-
3Gain-
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FANCG-
-
-
-
1Loss-
FARP2-
-
-
-
1Loss-
FARSA-
-
-
-
1Loss-
FARSB-
-
-
-
1Loss-
FASTK-
-
-
-
1Loss-
FASTKD2-
-
-
-
1Loss-
FASTKD3-
-
-
-
3Gain-
FAT3-
-
-
-
1Loss-
FBF1p.S96*
Nonsense
SNP
0.450
2--
FBLN2-
-
-
-
1Loss-
FBN1-
-
-
-
3Gain-
FBN2-
-
-
-
1Loss-
FBN3-
-
-
-
1Loss-
FBXL12-
-
-
-
1Loss-
FBXL14-
-
-
-
1Loss-
FBXL17-
-
-
-
1Loss-
FBXL2-
-
-
-
1Loss-
FBXL7-
-
-
-
3Gain-
FBXO10-
-
-
-
1Loss-
FBXO15-
-
-
-
3Gain-
FBXO36-
-
-
-
1Loss-
FBXO38p.R865W
Missense
SNP
0.200
2--
FBXO39-
-
-
-
1Loss-
FBXO4-
-
-
-
3Gain-
FBXO40-
-
-
-
3Gain-
FBXO45-
-
-
-
3Gain-
FBXW10-
-
-
-
1Loss-
FBXW12p.M354I
Missense
SNP
0.418
2--
FBXW9-
-
-
-
1Loss-
FCER2-
-
-
-
1Loss-
FCHO1-
-
-
-
1Loss-
FCHO2-
-
-
-
1Loss-
FCHSD2-
-
-
-
1Loss-
FDX1-
-
-
-
1Loss-
FDX2-
-
-
-
1Loss-
FDXACB1-
-
-
-
1Loss-
FECH-
-
-
-
3Gain-
FEM1A-
-
-
-
1Loss-
FEM1C-
-
-
-
1Loss-
FER-
-
-
-
1Loss-
FETUB-
-
-
-
3Gain-
FEV-
-
-
-
1Loss-
FEZ1-
-
-
-
1Loss-
FEZF1-
-
-
-
1Loss-
FGD5-
-
-
-
1Loss-
FGF10-
-
-
-
3Gain-
FGF11-
-
-
-
1Loss-
FGF12-
-
-
-
3Gain-
FGF19-
-
-
-
1Loss-
FGF22-
-
-
-
1Loss-
FGF23-
-
-
-
1Loss-
FGF3-
-
-
-
1Loss-
FGF4-
-
-
-
1Loss-
FGF6-
-
-
-
1Loss-
FGF7-
-
-
-
3Gain-
FGFR3p.S249C
Missense
SNP
0.526
2--
FHOD3-
-
-
-
3Gain-
FIGNL1-
-
-
-
1Loss-
FILIP1L-
-
-
-
3Gain-
FKBP4-
-
-
-
1Loss-
FKBP8-
-
-
-
1Loss-
FKBPLp.Q92*
Nonsense
SNP
0.390
2--
FLCN-
-
-
-
1Loss-
FLI1-
-
-
-
1Loss-
FLII-
-
-
-
1Loss-
FLNC-
-
-
-
1Loss-
FMC1-
-
-
-
1Loss-
FMN1-
-
-
-
3Gain-
FN1-
-
-
-
1Loss-
FNDC10-
-
-
-
3Gain-
FNDC3B-
-
-
-
3Gain-
FNIP1-
-
-
-
1Loss-
FOCAD-
-
-
-
1Loss-
FOLR1-
-
-
-
1Loss-
FOLR2-
-
-
-
1Loss-
FOLR3-
-
-
-
1Loss-
FOXD1-
-
-
-
1Loss-
FOXD4L3-
-
-
-
1Loss-
FOXD4L4-
-
-
-
1Loss-
FOXD4L5-
-
-
-
1Loss-
FOXD4L6-
-
-
-
1Loss-
FOXJ2-
-
-
-
1Loss-
FOXL2-
-
-
-
3Gain-
FOXL2NB-
-
-
-
3Gain-
FOXM1-
-
-
-
1Loss-
FOXP2-
-
-
-
1Loss-
FOXR1-
-
-
-
1Loss-
FOXRED1-
-
-
-
1Loss-
FP325317.1p.M127I
Missense
SNP
0.721
NDND-
FREM1-
-
-
-
1Loss-
FREM3p.T1837S
Missense
SNP
0.484
2--
FRG2B-
-
-
-
1Loss-
FRMD5-
-
-
-
3Gain-
FRMPD1-
-
-
-
1Loss-
FSCN3-
-
-
-
1Loss-
FSD1-
-
-
-
1Loss-
FSD2p.S434*
p.D300H
p.E81Q
p.E69K
Nonsense
Missense
Missense
Missense
SNP
SNP
SNP
SNP
0.402
0.410
0.423
0.406
2--
FSIP1-
-
-
-
3Gain-
FST-
-
-
-
1Loss-
FSTL1-
-
-
-
3Gain-
FSTL3-
-
-
-
1Loss-
FSTL4-
-
-
-
1Loss-
FTCD-
-
-
-
3Gain-
FTCDNL1-
-
-
-
1Loss-
FTMT-
-
-
-
1Loss-
FTSJ3-
-
-
-
3Gain-
FUOM-
-
-
-
1Loss-
FUT3-
-
-
-
1Loss-
FUT4-
-
-
-
1Loss-
FUT5-
-
-
-
1Loss-
FUT6-
-
-
-
1Loss-
FXR1-
-
-
-
3Gain-
FXR2-
-
-
-
1Loss-
FXYD2-
-
-
-
1Loss-
FXYD6-
-
-
-
1Loss-
FXYD6-FXYD2-
-
-
-
1Loss-
FYB1-
-
-
-
3Gain-
FYTTD1-
-
-
-
3Gain-
FZD4-
-
-
-
1Loss-
FZD5-
-
-
-
1Loss-
FZD7-
-
-
-
1Loss-
FZR1-
-
-
-
1Loss-
G2E3p.L203F
Missense
SNP
0.299
2--
GAB2-
-
-
-
1Loss-
GAB4-
-
-
-
3Gain-
GABARAP-
-
-
-
1Loss-
GABARAPL1-
-
-
-
1Loss-
GABPB1-
-
-
-
3Gain-
GABRA5-
-
-
-
1Loss-
GABRB3-
-
-
-
1Loss-
GABRD-
-
-
-
3Gain-
GABRG3-
-
-
-
1Loss-
GABRR3-
-
-
-
3Gain-
GADD45B-
-
-
-
1Loss-
GADD45GIP1-
-
-
-
1Loss-
GADL1-
-
-
-
1Loss-
GAKp.E177Q
Missense
SNP
0.452
2--
GAL3ST2-
-
-
-
1Loss-
GALK2-
-
-
-
3Gain-
GALNT1-
-
-
-
3Gain-
GALNT11-
-
-
-
1Loss-
GALNT15-
-
-
-
1Loss-
GALNT8-
-
-
-
1Loss-
GALNTL5-
-
-
-
1Loss-
GALR1-
-
-
-
3Gain-
GALT-
-
-
-
1Loss-
GAMT-
-
-
-
1Loss-
GANC-
-
-
-
3Gain-
GAP43-
-
-
-
3Gain-
GAPDH-
-
-
-
1Loss-
GAPT-
-
-
-
1Loss-
GAREM1-
-
-
-
3Gain-
GART-
-
-
-
3Gain-
GAS7-
-
-
-
1Loss-
GATA2-
-
-
-
3Gain-
GATA6-
-
-
-
3Gain-
GATAD2A-
-
-
-
1Loss-
GATM-
-
-
-
3Gain-
GBA2-
-
-
-
1Loss-
GBP3p.Q436*
Nonsense
SNP
0.940
2--
GBX1-
-
-
-
1Loss-
GBX2-
-
-
-
1Loss-
GCC1-
-
-
-
1Loss-
GCDH-
-
-
-
1Loss-
GCHFR-
-
-
-
3Gain-
GCNT4-
-
-
-
1Loss-
GCSAM-
-
-
-
3Gain-
GDF1-
-
-
-
1Loss-
GDF15-
-
-
-
1Loss-
GDF3-
-
-
-
1Loss-
GDF9-
-
-
-
1Loss-
GDNF-
-
-
-
3Gain-
GDPD1-
-
-
-
3Gain-
GDPD4-
-
-
-
1Loss-
GDPD5-
-
-
-
1Loss-
GEMIN4-
-
-
-
1Loss-
GFM1-
-
-
-
3Gain-
GFM2-
-
-
-
1Loss-
GGT2-
-
-
-
3Gain-
GGT6-
-
-
-
1Loss-
GGTLC3-
-
-
-
3Gain-
GH1-
-
-
-
3Gain-
GH2-
-
-
-
3Gain-
GHR-
-
-
-
3Gain-
GHRL-
-
-
-
1Loss-
GHSR-
-
-
-
3Gain-
GID4-
-
-
-
1Loss-
GIGYF2-
-
-
-
1Loss-
GIMAP1-
-
-
-
1Loss-
GIMAP1-GIMAP5-
-
-
-
1Loss-
GIMAP2-
-
-
-
1Loss-
GIMAP4-
-
-
-
1Loss-
GIMAP5-
-
-
-
1Loss-
GIMAP6-
-
-
-
1Loss-
GIMAP7-
-
-
-
1Loss-
GIMAP8-
-
-
-
1Loss-
GIN1-
-
-
-
1Loss-
GIP-
-
-
-
3Gain-
GIPC1-
-
-
-
1Loss-
GIPC3-
-
-
-
1Loss-
GJD2-
-
-
-
3Gain-
GJD3p.E108*
Nonsense
SNP
0.641
2--
GK5-
-
-
-
3Gain-
GLB1-
-
-
-
1Loss-
GLB1L-
-
-
-
1Loss-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLDC-
-
-
-
1Loss-
GLDN-
-
-
-
3Gain-
GLIPR2-
-
-
-
1Loss-
GLIS3-
-
-
-
1Loss-
GLOD4-
-
-
-
1Loss-
GLP2R-
-
-
-
1Loss-
GLRX-
-
-
-
1Loss-
GLTPD2-
-
-
-
1Loss-
GMIP-
-
-
-
1Loss-
GMNC-
-
-
-
3Gain-
GMPPA-
-
-
-
1Loss-
GMPS-
-
-
-
3Gain-
GNA11-
-
-
-
1Loss-
GNA13-
-
-
-
3Gain-
GNA15-
-
-
-
1Loss-
GNAL-
-
-
-
1Loss-
GNB1-
-
-
-
3Gain-
GNB1L-
-
-
-
3Gain-
GNB3-
-
-
-
1Loss-
GNB4-
-
-
-
3Gain-
GNB5-
-
-
-
3Gain-
GNE-
-
-
-
1Loss-
GNG14-
-
-
-
1Loss-
GNG7-
-
-
-
1Loss-
GNGT2-
-
-
-
3Gain-
GOLGA6B-
-
-
-
0Del-
GOLGA6C-
-
-
-
0Del-
GOLGA6D-
-
-
-
0Del-
GOLGA6L1-
-
-
-
0Del-
GOLGA6L2-
-
-
-
1Loss-
GOLGA6L22-
-
-
-
0Del-
GOLGA6L6-
-
-
-
0Del-
GOLGA6L7-
-
-
-
0Del-
GOLGA8A-
-
-
-
1Loss-
GOLGA8B-
-
-
-
1Loss-
GOLGA8F-
-
-
-
0Del-
GOLGA8G-
-
-
-
0Del-
GOLGA8H-
-
-
-
1Loss-
GOLGA8J-
-
-
-
1Loss-
GOLGA8K-
-
-
-
0Del-
GOLGA8M-
-
-
-
0Del-
GOLGA8N-
-
-
-
0Del-
GOLGA8O-
-
-
-
0Del-
GOLGA8Q-
-
-
-
1Loss-
GOLGA8R-
-
-
-
1Loss-
GOLGA8S-
-
-
-
0Del-
GOLGA8T-
-
-
-
1Loss-
GOLGB1-
-
-
-
3Gain-
GOLIM4-
-
-
-
3Gain-
GOLPH3-
-
-
-
3Gain-
GOLT1B-
-
-
-
3Gain-
GON4Lp.E1067Q
Missense
SNP
0.394
2--
GP1BA-
-
-
-
1Loss-
GP1BB-
-
-
-
3Gain-
GP5-
-
-
-
3Gain-
GP9-
-
-
-
3Gain-
GPBAR1-
-
-
-
1Loss-
GPBP1-
-
-
-
1Loss-
GPC1-
-
-
-
1Loss-
GPC3p.E472Q
Missense
SNP
0.768
NDND-
GPD1L-
-
-
-
1Loss-
GPR1-
-
-
-
1Loss-
GPR108-
-
-
-
1Loss-
GPR149-
-
-
-
3Gain-
GPR15-
-
-
-
3Gain-
GPR150-
-
-
-
1Loss-
GPR153-
-
-
-
3Gain-
GPR156-
-
-
-
3Gain-
GPR157-
-
-
-
3Gain-
GPR160-
-
-
-
3Gain-
GPR162-
-
-
-
1Loss-
GPR171-
-
-
-
3Gain-
GPR176-
-
-
-
3Gain-
GPR19-
-
-
-
1Loss-
GPR35-
-
-
-
1Loss-
GPR37-
-
-
-
1Loss-
GPR55-
-
-
-
1Loss-
GPR75p.H20D
Missense
SNP
0.256
2--
GPR83-
-
-
-
1Loss-
GPR85-
-
-
-
1Loss-
GPR87-
-
-
-
3Gain-
GPRC5A-
-
-
-
1Loss-
GPRC5D-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GRAMD1B-
-
-
-
1Loss-
GRAMD1C-
-
-
-
3Gain-
GRAMD2B-
-
-
-
1Loss-
GRAP-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GRB10-
-
-
-
1Loss-
GREB1L-
-
-
-
3Gain-
GREM1-
-
-
-
3Gain-
GRHPR-
-
-
-
1Loss-
GRIA4-
-
-
-
1Loss-
GRIK4-
-
-
-
1Loss-
GRIN2B-
-
-
-
1Loss-
GRIN3B-
-
-
-
1Loss-
GRIP2-
-
-
-
1Loss-
GRK7-
-
-
-
3Gain-
GRM1p.W910L
Missense
SNP
0.873
2--
GRM5-
-
-
-
1Loss-
GRM7-
-
-
-
1Loss-
GRM8-
-
-
-
1Loss-
GRP-
-
-
-
3Gain-
GSC2-
-
-
-
3Gain-
GSE1p.E524Q
Missense
SNP
0.437
2--
GSG1-
-
-
-
1Loss-
GSG1L2-
-
-
-
1Loss-
GSK3B-
-
-
-
3Gain-
GSTK1-
-
-
-
1Loss-
GTF2E1-
-
-
-
3Gain-
GTF2F1-
-
-
-
1Loss-
GTF2H2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF2IRD2p.H797N
Missense
SNP
0.391
2--
GTPBP3-
-
-
-
1Loss-
GTPBP8-
-
-
-
3Gain-
GUCA1C-
-
-
-
3Gain-
GUCY1A2-
-
-
-
1Loss-
GUCY2C-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GVQW3-
-
-
-
1Loss-
GYG1-
-
-
-
3Gain-
GYS2-
-
-
-
3Gain-
GZMM-
-
-
-
1Loss-
H1FOO-
-
-
-
3Gain-
H1FX-
-
-
-
3Gain-
H2AFJ-
-
-
-
5Amp-
H2AFV-
-
-
-
1Loss-
H2AFX-
-
-
-
1Loss-
HACD2-
-
-
-
3Gain-
HACD4-
-
-
-
1Loss-
HACL1-
-
-
-
1Loss-
HAPLN1-
-
-
-
1Loss-
HAPLN4-
-
-
-
1Loss-
HASPIN-
-
-
-
1Loss-
HAUS1-
-
-
-
3Gain-
HAUS2-
-
-
-
3Gain-
HAUS6-
-
-
-
1Loss-
HAUS8-
-
-
-
1Loss-
HCLS1-
-
-
-
3Gain-
HCN1-
-
-
-
3Gain-
HCN2-
-
-
-
1Loss-
HCN4p.S964L
Missense
SNP
0.396
2--
HDAC11-
-
-
-
1Loss-
HDAC4-
-
-
-
1Loss-
HDC-
-
-
-
3Gain-
HDGFL2-
-
-
-
1Loss-
HDHD2-
-
-
-
3Gain-
HDHD5-
-
-
-
3Gain-
HDLBP-
-
-
-
1Loss-
HEATR6-
-
-
-
3Gain-
HEBP1-
-
-
-
1Loss-
HEG1-
-
-
-
3Gain-
HELZ-
-
-
-
3Gain-
HEPACAM-
-
-
-
1Loss-
HEPHL1-
-
-
-
1Loss-
HEPN1-
-
-
-
1Loss-
HERC2p.H2688D
Missense
SNP
0.758
1Loss-
HERC3p.S278C
Missense
SNP
0.423
2--
HES1-
-
-
-
3Gain-
HES2-
-
-
-
3Gain-
HES3-
-
-
-
3Gain-
HES4-
-
-
-
3Gain-
HES5-
-
-
-
3Gain-
HES6-
-
-
-
1Loss-
HES7-
-
-
-
1Loss-
HEXB-
-
-
-
1Loss-
HGD-
-
-
-
3Gain-
HHIPL2p.S390*
Nonsense
SNP
0.493
2--
HHLA2-
-
-
-
3Gain-
HIC1-
-
-
-
1Loss-
HIC2-
-
-
-
3Gain-
HIKESHI-
-
-
-
1Loss-
HILPDA-
-
-
-
1Loss-
HINFP-
-
-
-
1Loss-
HINT1-
-
-
-
1Loss-
HINT2-
-
-
-
1LossHINT2--RN7SL1
HINT2--AL139099.4
HIPK2-
-
-
-
1Loss-
HIRA-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
1Loss-
HIST4H4-
-
-
-
5Amp-
HJURP-
-
-
-
1Loss-
HKR1-
-
-
-
1Loss-
HLA-Bp.S48L
Missense
SNP
0.861
2--
HLCS-
-
-
-
3Gain-
HLF-
-
-
-
3Gain-
HLTF-
-
-
-
3Gain-
HMBS-
-
-
-
1Loss-
HMCES-
-
-
-
3Gain-
HMG20B-
-
-
-
1Loss-
HMGCR-
-
-
-
1Loss-
HMGCS1-
-
-
-
3Gain-
HMGN1-
-
-
-
3Gain-
HMSD-
-
-
-
3Gain-
HNRNPCL1-
-
-
-
1Loss-
HNRNPCL2-
-
-
-
1Loss-
HNRNPCL3-
-
-
-
1Loss-
HNRNPCL4-
-
-
-
1Loss-
HNRNPM-
-
-
-
1Loss-
HOMER1-
-
-
-
1Loss-
HOMER3-
-
-
-
1Loss-
HOOK2-
-
-
-
1Loss-
HOXB1-
-
-
-
3Gain-
HOXB13-
-
-
-
3Gain-
HOXB2-
-
-
-
3Gain-
HOXB3-
-
-
-
3Gain-
HOXB4-
-
-
-
3Gain-
HOXB5-
-
-
-
3Gain-
HOXB6-
-
-
-
3Gain-
HOXB7-
-
-
-
3Gain-
HOXB8-
-
-
-
3Gain-
HOXB9-
-
-
-
3Gain-
HPS3-
-
-
-
3Gain-
HRASLS-
-
-
-
3Gain-
HRCT1-
-
-
-
1Loss-
HRG-
-
-
-
3Gain-
HRH1-
-
-
-
1Loss-
HRH4-
-
-
-
3Gain-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HSBP1L1-
-
-
-
3Gain-
HSD11B1L-
-
-
-
1Loss-
HSD17B4-
-
-
-
1Loss-
HSF1p.*530Yext*37
Nonstop
SNP
0.509
2--
HSF2BP-
-
-
-
3Gain-
HSF5-
-
-
-
3Gain-
HSH2D-
-
-
-
1Loss-
HSPA4-
-
-
-
1Loss-
HSPA8-
-
-
-
1Loss-
HSPB2-
-
-
-
1Loss-
HSPB2-C11orf52-
-
-
-
1Loss-
HSPBAP1-
-
-
-
3Gain-
HSPG2p.S2133C
p.S2002L
Missense
Missense
SNP
SNP
0.848
0.907
2--
HTR1A-
-
-
-
1Loss-
HTR2A-
-
-
-
1Loss-
HTR2B-
-
-
-
1Loss-
HTR3A-
-
-
-
1Loss-
HTR3B-
-
-
-
1Loss-
HTR3C-
-
-
-
3Gain-
HTR3D-
-
-
-
3Gain-
HTR3E-
-
-
-
3Gain-
HTR5A-
-
-
-
1Loss-
HUNK-
-
-
-
3Gain-
HUS1-
-
-
-
1Loss-
HYAL4-
-
-
-
1Loss-
HYLS1-
-
-
-
1Loss-
HYOU1-
-
-
-
1Loss-
HYPK-
-
-
-
3Gain-
IAPP-
-
-
-
3Gain-
ICA1L-
-
-
-
1Loss-
ICAM1-
-
-
-
1Loss-
ICAM2-
-
-
-
3Gain-
ICAM3-
-
-
-
1Loss-
ICAM4-
-
-
-
1Loss-
ICAM5-
-
-
-
1Loss-
ICE1-
-
-
-
3Gain-
ICMT-
-
-
-
3Gain-
ICOS-
-
-
-
1Loss-
IDH1-
-
-
-
1Loss-
IER2-
-
-
-
1Loss-
IER3IP1-
-
-
-
3Gain-
IFFO1-
-
-
-
1Loss-
IFI30-
-
-
-
1Loss-
IFNA1-
-
-
-
1Loss-
IFNA10-
-
-
-
1Loss-
IFNA13-
-
-
-
1Loss-
IFNA14-
-
-
-
1Loss-
IFNA16-
-
-
-
1Loss-
IFNA17-
-
-
-
1Loss-
IFNA2-
-
-
-
1Loss-
IFNA21-
-
-
-
1Loss-
IFNA4-
-
-
-
1Loss-
IFNA5-
-
-
-
1Loss-
IFNA6-
-
-
-
1Loss-
IFNA7-
-
-
-
1Loss-
IFNA8-
-
-
-
1Loss-
IFNAR1-
-
-
-
3Gain-
IFNAR2-
-
-
-
3Gain-
IFNB1-
-
-
-
1Loss-
IFNE-
-
-
-
1Loss-
IFNGR1p.E388*
Nonsense
SNP
0.898
2--
IFNGR2-
-
-
-
3Gain-
IFNK-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFRD1-
-
-
-
1Loss-
IFT122-
-
-
-
3Gain-
IFT46-
-
-
-
1Loss-
IFT57-
-
-
-
3Gain-
IFT74-
-
-
-
1Loss-
IFT80-
-
-
-
3Gain-
IGF2BP1-
-
-
-
3Gain-
IGF2BP2-
-
-
-
3Gain-
IGF2BP3p.E241K
Missense
SNP
0.426
2--
IGFBP1-
-
-
-
1Loss-
IGFBP2-
-
-
-
1Loss-
IGFBP3-
-
-
-
1Loss-
IGFBP5-
-
-
-
1Loss-
IGFBPL1-
-
-
-
1Loss-
IGHMBP2-
-
-
-
1Loss-
IGSF10-
-
-
-
3Gain-
IGSF11-
-
-
-
3Gain-
IGSF5-
-
-
-
3Gain-
IGSF9B-
-
-
-
1Loss-
IHH-
-
-
-
1Loss-
IKZF1-
-
-
-
1Loss-
IKZF2-
-
-
-
1Loss-
IL10RA-
-
-
-
1Loss-
IL10RB-
-
-
-
3Gain-
IL11RA-
-
-
-
1Loss-
IL12A-
-
-
-
3Gain-
IL12RB1-
-
-
-
1Loss-
IL13-
-
-
-
1Loss-
IL17RA-
-
-
-
3Gain-
IL17RC-
-
-
-
1Loss-
IL17RE-
-
-
-
1Loss-
IL18-
-
-
-
1Loss-
IL18BP-
-
-
-
1Loss-
IL1RAP-
-
-
-
3Gain-
IL20RB-
-
-
-
3Gain-
IL27RA-
-
-
-
1Loss-
IL3-
-
-
-
1Loss-
IL31RA-
-
-
-
1Loss-
IL33-
-
-
-
1Loss-
IL4-
-
-
-
1Loss-
IL5-
-
-
-
1Loss-
IL5RA-
-
-
-
1Loss-
IL6ST-
-
-
-
1Loss-
IL7R-
-
-
-
3Gain-
ILDR1-
-
-
-
3Gain-
ILF3-
-
-
-
1Loss-
ILKAP-
-
-
-
1Loss-
ILVBL-
-
-
-
1Loss-
IMMP2L-
-
-
-
5Amp-
IMPA2-
-
-
-
1Loss-
IMPACT-
-
-
-
3Gain-
IMPDH1-
-
-
-
1Loss-
IMPG2-
-
-
-
3Gain-
INCA1-
-
-
-
1Loss-
ING3-
-
-
-
1Loss-
ING4-
-
-
-
1Loss-
ING5-
-
-
-
1Loss-
INHA-
-
-
-
1Loss-
INO80-
-
-
-
3Gain-
INO80C-
-
-
-
3Gain-
INO80D-
-
-
-
1Loss-
INPP5D-
-
-
-
1Loss-
INPP5Fp.Q765E
Missense
SNP
0.383
2--
INPP5K-
-
-
-
1Loss-
INPPL1-
-
-
-
1Loss-
INSIG1-
-
-
-
1Loss-
INSL3-
-
-
-
1Loss-
INSL4-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSR-
-
-
-
1Loss-
INTS11-
-
-
-
3Gain-
INTS2-
-
-
-
3Gain-
INTS4-
-
-
-
1Loss-
IPO11-
-
-
-
1Loss-
IQCA1-
-
-
-
1Loss-
IQCB1-
-
-
-
3Gain-
IQCG-
-
-
-
3Gain-
IQCJ-
-
-
-
3Gain-
IQCJ-SCHIP1-
-
-
-
3Gain-
IQCN-
-
-
-
1Loss-
IQGAP2-
-
-
-
1Loss-
IQSEC1-
-
-
-
1Loss-
IQSEC3-
-
-
-
1Loss-
IQUB-
-
-
-
1Loss-
IRAK2-
-
-
-
1Loss-
IRF1-
-
-
-
1Loss-
IRF5-
-
-
-
1Loss-
IRF7p.D123H
Missense
SNP
0.422
2--
IRS1-
-
-
-
1Loss-
IRX1-
-
-
-
3Gain-
IRX2-
-
-
-
3Gain-
IRX4-
-
-
-
3Gain-
ISG15-
-
-
-
3Gain-
ISL1-
-
-
-
1Loss-
ISOC1-
-
-
-
1Loss-
ISY1-
-
-
-
3Gain-
ISY1-RAB43-
-
-
-
3Gain-
ISYNA1-
-
-
-
1Loss-
ITFG2-
-
-
-
1Loss-
ITGA1-
-
-
-
1Loss-
ITGA2-
-
-
-
1Loss-
ITGA3-
-
-
-
3Gain-
ITGA4p.E937Q
Missense
SNP
0.465
2--
ITGAE-
-
-
-
1Loss-
ITGB2-
-
-
-
3Gain-
ITGB5-
-
-
-
3Gain-
ITM2C-
-
-
-
1Loss-
ITPKA-
-
-
-
3Gain-
ITPR1-
-
-
-
1Loss-
ITPR2p.I2226N
Missense
SNP
0.400
2--
ITSN1-
-
-
-
3Gain-
IVD-
-
-
-
3Gain-
IZUMO1R-
-
-
-
1Loss-
IZUMO3-
-
-
-
1Loss-
IZUMO4-
-
-
-
1Loss-
JADE2-
-
-
-
1Loss-
JAGN1-
-
-
-
1Loss-
JAK2-
-
-
-
1Loss-
JAK3-
-
-
-
1Loss-
JAM3-
-
-
-
1Loss-
JAML-
-
-
-
1Loss-
JHY-
-
-
-
1Loss-
JMJD7-
-
-
-
3Gain-
JMJD7-PLA2G4B-
-
-
-
3Gain-
JMY-
-
-
-
1Loss-
JRKL-
-
-
-
1Loss-
JSRP1-
-
-
-
1Loss-
JUNB-
-
-
-
1Loss-
JUND-
-
-
-
1Loss-
KALRN-
-
-
-
3Gain-
KANK1-
-
-
-
1Loss-
KANK2-
-
-
-
1Loss-
KANK3-
-
-
-
1Loss-
KANSL1L-
-
-
-
1Loss-
KAT2B-
-
-
-
1Loss-
KAT7-
-
-
-
3Gain-
KATNAL2-
-
-
-
3Gain-
KATNBL1-
-
-
-
3Gain-
KBTBD12-
-
-
-
3Gain-
KBTBD3-
-
-
-
1Loss-
KCNA1-
-
-
-
1Loss-
KCNA2p.R73Q
Missense
SNP
0.913
2--
KCNA5-
-
-
-
1Loss-
KCNA6-
-
-
-
1Loss-
KCNAB1-
-
-
-
3Gain-
KCNAB2-
-
-
-
3Gain-
KCNAB3-
-
-
-
1Loss-
KCND2-
-
-
-
1Loss-
KCNE1-
-
-
-
3Gain-
KCNE2-
-
-
-
3Gain-
KCNE3-
-
-
-
1Loss-
KCNE4-
-
-
-
1Loss-
KCNG2-
-
-
-
3Gain-
KCNH2-
-
-
-
1Loss-
KCNH6-
-
-
-
3Gain-
KCNH8-
-
-
-
1Loss-
KCNJ1-
-
-
-
1Loss-
KCNJ12-
-
-
-
1Loss-
KCNJ13-
-
-
-
1Loss-
KCNJ15-
-
-
-
3Gain-
KCNJ16-
-
-
-
3Gain-
KCNJ18-
-
-
-
1Loss-
KCNJ2-
-
-
-
3Gain-
KCNJ5-
-
-
-
1Loss-
KCNJ6-
-
-
-
3Gain-
KCNJ8-
-
-
-
3Gain-
KCNMB2-
-
-
-
3Gain-
KCNMB3-
-
-
-
3Gain-
KCNN1p.E76K
Missense
SNP
0.768
1Loss-
KCNN2-
-
-
-
1Loss-
KCNV2-
-
-
-
1Loss-
KCP-
-
-
-
1Loss-
KCTD1-
-
-
-
3Gain-
KCTD11-
-
-
-
1Loss-
KCTD14-
-
-
-
1Loss-
KCTD18-
-
-
-
1Loss-
KCTD21-
-
-
-
1Loss-
KDELC2-
-
-
-
1Loss-
KDM4B-
-
-
-
1Loss-
KDM4C-
-
-
-
1Loss-
KDM4D-
-
-
-
1Loss-
KDM4E-
-
-
-
1Loss-
KDM4F-
-
-
-
1Loss-
KDM5A-
-
-
-
1Loss-
KDM6Ap.E266K
Missense
SNP
0.811
NDND-
KDM6B-
-
-
-
1Loss-
KDM7A-
-
-
-
1Loss-
KDSR-
-
-
-
3Gain-
KEAP1-
-
-
-
1Loss-
KEL-
-
-
-
1Loss-
KHSRP-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA0825-
-
-
-
1Loss-
KIAA1024L-
-
-
-
1Loss-
KIAA1147-
-
-
-
1Loss-
KIAA1257-
-
-
-
3Gain-
KIAA1328-
-
-
-
3Gain-
KIAA1549-
-
-
-
1Loss-
KIAA2012-
-
-
-
1Loss-
KIAA2026-
-
-
-
1Loss-
KIDINS220p.Q1172*
Nonsense
SNP
0.396
2--
KIF1A-
-
-
-
1Loss-
KIF1C-
-
-
-
1Loss-
KIF24-
-
-
-
1Loss-
KIF2A-
-
-
-
1Loss-
KIF2B-
-
-
-
3Gain-
KIF3A-
-
-
-
1Loss-
KIR3DL2p.R41L
Missense
SNP
0.431
2--
KIRREL3-
-
-
-
1Loss-
KISS1R-
-
-
-
1Loss-
KLF1-
-
-
-
1Loss-
KLF13-
-
-
-
3Gain-
KLF14-
-
-
-
1Loss-
KLF15-
-
-
-
3Gain-
KLF16-
-
-
-
1Loss-
KLF2-
-
-
-
1Loss-
KLF7-
-
-
-
1Loss-
KLHDC1p.E111D
Missense
SNP
0.422
2--
KLHDC10-
-
-
-
1Loss-
KLHL14-
-
-
-
3Gain-
KLHL17-
-
-
-
3Gain-
KLHL21-
-
-
-
3Gain-
KLHL22-
-
-
-
3Gain-
KLHL24-
-
-
-
3Gain-
KLHL26-
-
-
-
1Loss-
KLHL30-
-
-
-
1Loss-
KLHL35-
-
-
-
1Loss-
KLHL38p.E217K
Missense
SNP
0.460
2--
KLHL6-
-
-
-
3Gain-
KLHL9-
-
-
-
1Loss-
KLRB1-
-
-
-
1Loss-
KLRC1-
-
-
-
1Loss-
KLRC2-
-
-
-
1Loss-
KLRC3-
-
-
-
1Loss-
KLRC4-
-
-
-
1Loss-
KLRC4-KLRK1-
-
-
-
1Loss-
KLRD1-
-
-
-
1Loss-
KLRF1-
-
-
-
1Loss-
KLRF2-
-
-
-
1Loss-
KLRG1-
-
-
-
1Loss-
KLRG2-
-
-
-
1Loss-
KLRK1-
-
-
-
1Loss-
KMT2A-
-
-
-
1Loss-
KMT2Cp.E2626*
Nonsense
SNP
0.810
1Loss-
KMT2Dp.Q4347*
Nonsense
SNP
0.325
2--
KNDC1-
-
-
-
1Loss-
KNG1-
-
-
-
3Gain-
KNL1-
-
-
-
3Gain-
KNSTRN-
-
-
-
3Gain-
KPNA1-
-
-
-
3Gain-
KPNA2-
-
-
-
3Gain-
KPNA4-
-
-
-
3Gain-
KRBA1-
-
-
-
1Loss-
KRBA2-
-
-
-
1Loss-
KRI1-
-
-
-
1Loss-
KRTAP10-1-
-
-
-
3Gain-
KRTAP10-10-
-
-
-
3Gain-
KRTAP10-11-
-
-
-
3Gain-
KRTAP10-12-
-
-
-
3Gain-
KRTAP10-2-
-
-
-
3Gain-
KRTAP10-3-
-
-
-
3Gain-
KRTAP10-4-
-
-
-
3Gain-
KRTAP10-5-
-
-
-
3Gain-
KRTAP10-6-
-
-
-
3Gain-
KRTAP10-7-
-
-
-
3Gain-
KRTAP10-8-
-
-
-
3Gain-
KRTAP10-9-
-
-
-
3Gain-
KRTAP11-1-
-
-
-
3Gain-
KRTAP12-1-
-
-
-
3Gain-
KRTAP12-2-
-
-
-
3Gain-
KRTAP12-3-
-
-
-
3Gain-
KRTAP12-4-
-
-
-
3Gain-
KRTAP19-6-
-
-
-
3Gain-
KRTAP19-7-
-
-
-
3Gain-
KRTAP19-8-
-
-
-
3Gain-
KRTAP20-1-
-
-
-
3Gain-
KRTAP20-2-
-
-
-
3Gain-
KRTAP20-3-
-
-
-
3Gain-
KRTAP20-4-
-
-
-
3Gain-
KRTAP21-1-
-
-
-
3Gain-
KRTAP21-2-
-
-
-
3Gain-
KRTAP21-3-
-
-
-
3Gain-
KRTAP22-1-
-
-
-
3Gain-
KRTAP22-2-
-
-
-
3Gain-
KRTAP4-8p.D12N
Missense
SNP
0.442
2--
KRTAP5-10-
-
-
-
1Loss-
KRTAP5-11-
-
-
-
1Loss-
KRTAP5-7-
-
-
-
1Loss-
KRTAP5-8-
-
-
-
1Loss-
KRTAP5-9-
-
-
-
1Loss-
KRTAP6-1-
-
-
-
3Gain-
KRTAP6-2-
-
-
-
3Gain-
KRTAP6-3-
-
-
-
3Gain-
KRTAP7-1-
-
-
-
3Gain-
KRTAP8-1-
-
-
-
3Gain-
KXD1-
-
-
-
1Loss-
KY-
-
-
-
3Gain-
L3MBTL4-
-
-
-
1Loss-
LAG3-
-
-
-
1Loss-
LAMA1-
-
-
-
1Loss-
LAMA3-
-
-
-
3Gain-
LAMC3p.E227Q
Missense
SNP
0.392
2--
LAMP3-
-
-
-
3Gain-
LAMTOR1-
-
-
-
1Loss-
LANCL1-
-
-
-
1Loss-
LAP3p.D305N
Missense
SNP
0.460
2--
LAYN-
-
-
-
1Loss-
LCA5L-
-
-
-
3Gain-
LCMT2-
-
-
-
3Gain-
LDHB-
-
-
-
3Gain-
LDLR-
-
-
-
1Loss-
LDLRAD4-
-
-
-
1Loss-
LEAP2-
-
-
-
1Loss-
LEKR1-
-
-
-
3Gain-
LEO1-
-
-
-
3Gain-
LEP-
-
-
-
1Loss-
LGALS9Bp.S40C
Missense
SNP
0.500
1Loss-
LGALS9C-
-
-
-
1Loss-
LGSNp.S352F
Missense
SNP
0.412
2--
LHFPL2-
-
-
-
1Loss-
LHFPL4-
-
-
-
1Loss-
LIFRp.D800N
Missense
SNP
0.213
3Gain-
LIMD2-
-
-
-
3Gain-
LINC02203-
-
-
-
0Del-
LINGO2-
-
-
-
1Loss-
LINGO3-
-
-
-
1Loss-
LIPG-
-
-
-
3Gain-
LIPH-
-
-
-
3Gain-
LIPT2-
-
-
-
1Loss-
LIX1-
-
-
-
1Loss-
LLCFC1-
-
-
-
1Loss-
LLGL1-
-
-
-
1Loss-
LMAN1-
-
-
-
3Gain-
LMBR1-
-
-
-
1Loss-
LMBRD2-
-
-
-
3Gain-
LMCD1-
-
-
-
1Loss-
LMLN-
-
-
-
3Gain-
LMNB1-
-
-
-
1Loss-
LMNB2-
-
-
-
1Loss-
LMO3-
-
-
-
5Amp-
LMOD2-
-
-
-
1Loss-
LNP1-
-
-
-
3Gain-
LNPEP-
-
-
-
1Loss-
LONP1-
-
-
-
1Loss-
LOX-
-
-
-
1Loss-
LOXHD1-
-
-
-
3Gain-
LPAR2-
-
-
-
1Loss-
LPAR5-
-
-
-
1Loss-
LPCAT1-
-
-
-
3Gain-
LPCAT3-
-
-
-
1Loss-
LPCAT4-
-
-
-
3Gain-
LPIN2-
-
-
-
1Loss-
LPO-
-
-
-
3Gain-
LPP-
-
-
-
3Gain-
LRCH1-
-
-
-
1Loss-
LRCH2p.I547V
Missense
SNP
0.847
NDND-
LRCH3-
-
-
-
3Gain-
LRG1-
-
-
-
1Loss-
LRGUK-
-
-
-
1Loss-
LRP6-
-
-
-
1Loss-
LRRC14B-
-
-
-
3Gain-
LRRC15-
-
-
-
3Gain-
LRRC19-
-
-
-
1Loss-
LRRC23-
-
-
-
1Loss-
LRRC25-
-
-
-
1Loss-
LRRC3-
-
-
-
3Gain-
LRRC30-
-
-
-
1Loss-
LRRC31-
-
-
-
3Gain-
LRRC32-
-
-
-
1Loss-
LRRC34-
-
-
-
3Gain-
LRRC37A-
-
-
-
1Loss-
LRRC37A2-
-
-
-
1Loss-
LRRC37A3-
-
-
-
3Gain-
LRRC3B-
-
-
-
1Loss-
LRRC4-
-
-
-
1Loss-
LRRC46-
-
-
-
3Gain-
LRRC47-
-
-
-
3Gain-
LRRC57-
-
-
-
3Gain-
LRRC58-
-
-
-
3Gain-
LRRC59-
-
-
-
3Gain-
LRRC61-
-
-
-
1Loss-
LRRC70-
-
-
-
1Loss-
LRRC74B-
-
-
-
3Gain-
LRRC75A-
-
-
-
1Loss-
LRRC8E-
-
-
-
1Loss-
LRRFIP1-
-
-
-
1Loss-
LRRIQ4-
-
-
-
3Gain-
LRRK1p.C1534Y
Missense
SNP
0.446
2--
LRRN1-
-
-
-
1Loss-
LRRN3-
-
-
-
5Amp-
LRRTM3p.R459Q
Missense
SNP
0.436
2--
LRTM2-
-
-
-
1Loss-
LRTOMT-
-
-
-
1Loss-
LSAMP-
-
-
-
3Gain-
LSG1-
-
-
-
3Gain-
LSM3-
-
-
-
1Loss-
LSM4-
-
-
-
1Loss-
LSM7-
-
-
-
1Loss-
LSM8-
-
-
-
1Loss-
LSMEM1-
-
-
-
1Loss-
LSS-
-
-
-
3Gain-
LTBR-
-
-
-
1Loss-
LTK-
-
-
-
3Gain-
LTO1-
-
-
-
1Loss-
LUC7L2-
-
-
-
1Loss-
LUC7L3-
-
-
-
3Gain-
LURAP1L-
-
-
-
1Loss-
LUZP6-
-
-
-
1Loss-
LVRN-
-
-
-
1Loss-
LXN-
-
-
-
3Gain-
LYL1-
-
-
-
1Loss-
LYRM7-
-
-
-
1Loss-
LYSMD2-
-
-
-
3Gain-
LYSMD3-
-
-
-
1Loss-
LZTR1-
-
-
-
3Gain-
M6PR-
-
-
-
1Loss-
MAATS1-
-
-
-
3Gain-
MAB21L4-
-
-
-
1Loss-
MADCAM1-
-
-
-
1Loss-
MAGEF1-
-
-
-
3Gain-
MAGEL2-
-
-
-
1Loss-
MAGOHB-
-
-
-
1Loss-
MAIP1-
-
-
-
1Loss-
MALT1-
-
-
-
3Gain-
MAMDC2p.E500D
Missense
SNP
0.429
2--
MAML2-
-
-
-
1Loss-
MAN2A1-
-
-
-
1Loss-
MAN2B1-
-
-
-
1Loss-
MANSC1-
-
-
-
1Loss-
MAP1A-
-
-
-
3Gain-
MAP1Bp.S2184L
Missense
SNP
0.787
1Loss-
MAP1S-
-
-
-
1Loss-
MAP2-
-
-
-
1Loss-
MAP2K2-
-
-
-
1Loss-
MAP2K3-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP2K6-
-
-
-
3Gain-
MAP2K7-
-
-
-
1Loss-
MAP3K1-
-
-
-
1Loss-
MAP3K13-
-
-
-
3Gain-
MAP3K3-
-
-
-
3Gain-
MAP6-
-
-
-
1Loss-
MAP6D1-
-
-
-
3Gain-
MAPK4-
-
-
-
3Gain-
MAPK6-
-
-
-
3Gain-
MAPK7-
-
-
-
1Loss-
MAPK8IP3p.G728A
Missense
SNP
0.426
2--
MAPKBP1-
-
-
-
3Gain-
MAPRE2-
-
-
-
3Gain-
MARCH10-
-
-
-
3Gain-
MARCH11-
-
-
-
3Gain-
MARCH2-
-
-
-
1Loss-
MARCH3-
-
-
-
1Loss-
MARCH4-
-
-
-
1Loss-
MARCH6-
-
-
-
3Gain-
MARK4p.E600K
Missense
SNP
0.432
2--
MARVELD2-
-
-
-
1Loss-
MASP1-
-
-
-
3Gain-
MAST1-
-
-
-
1Loss-
MAST3-
-
-
-
1Loss-
MAST4-
-
-
-
1Loss-
MATK-
-
-
-
1Loss-
MAU2-
-
-
-
1Loss-
MB21D2-
-
-
-
3Gain-
MBD1-
-
-
-
3Gain-
MBD2-
-
-
-
3Gain-
MBD3-
-
-
-
1Loss-
MBD3L1-
-
-
-
1Loss-
MBD3L2-
-
-
-
1Loss-
MBD3L2B-
-
-
-
1Loss-
MBD3L3-
-
-
-
1Loss-
MBD3L4-
-
-
-
1Loss-
MBD3L5-
-
-
-
1Loss-
MBD4p.R546Q
Missense
SNP
0.310
3Gain-
MBLAC2-
-
-
-
1Loss-
MBNL1-
-
-
-
3Gain-
MBP-
-
-
-
3Gain-
MBTD1-
-
-
-
3Gain-
MC2R-
-
-
-
1Loss-
MC4R-
-
-
-
3Gain-
MC5R-
-
-
-
1Loss-
MCAM-
-
-
-
1Loss-
MCC-
-
-
-
1Loss-
MCCC1-
-
-
-
3Gain-
MCCC2-
-
-
-
1Loss-
MCEMP1-
-
-
-
1Loss-
MCF2L2-
-
-
-
3Gain-
MCM2-
-
-
-
3Gain-
MCM3p.L266V
Missense
SNP
0.393
2--
MCM3AP-
-
-
-
3Gain-
MCOLN1-
-
-
-
1Loss-
MCTP1-
-
-
-
1Loss-
MDFIC-
-
-
-
1Loss-
MDH1B-
-
-
-
1Loss-
ME2-
-
-
-
3Gain-
ME3-
-
-
-
1Loss-
MECOM-
-
-
-
3Gain-
MED10-
-
-
-
3Gain-
MED11-
-
-
-
1Loss-
MED12L-
-
-
-
3Gain-
MED13-
-
-
-
3Gain-
MED15-
-
-
-
3Gain-
MED16-
-
-
-
1Loss-
MED17-
-
-
-
1Loss-
MED26-
-
-
-
1Loss-
MED31-
-
-
-
1Loss-
MED9-
-
-
-
1Loss-
MEF2B-
-
-
-
1Loss-
MEF2C-
-
-
-
1Loss-
MEGF10-
-
-
-
1Loss-
MEGF6p.E553Q
Missense
SNP
0.422
3Gain-
MEIS2-
-
-
-
3Gain-
MELK-
-
-
-
1Loss-
MELTF-
-
-
-
3Gain-
MEN1p.R465Q
Missense
SNP
0.433
2--
MEP1B-
-
-
-
3Gain-
MEST-
-
-
-
1Loss-
MET-
-
-
-
1Loss-
METTL16-
-
-
-
1Loss-
METTL21A-
-
-
-
1Loss-
METTL2A-
-
-
-
3Gain-
METTL2B-
-
-
-
1Loss-
METTL4-
-
-
-
1Loss-
METTL6-
-
-
-
1Loss-
MEX3C-
-
-
-
3Gain-
MEX3D-
-
-
-
1Loss-
MFAP1-
-
-
-
3Gain-
MFAP4-
-
-
-
1Loss-
MFAP5-
-
-
-
1Loss-
MFF-
-
-
-
1Loss-
MFN1-
-
-
-
3Gain-
MFRP-
-
-
-
1Loss-
MFSD1-
-
-
-
3Gain-
MFSD11p.X166_splice
Splice_Site
SNP
0.424
2--
MFSD12-
-
-
-
1Loss-
MFSD6L-
-
-
-
1Loss-
MGA-
-
-
-
3Gain-
MGAM-
-
-
-
1Loss-
MGAM2-
-
-
-
1Loss-
MGLL-
-
-
-
3Gain-
MGP-
-
-
-
5Amp-
MGST1-
-
-
-
5Amp-
MIB1-
-
-
-
3Gain-
MIB2-
-
-
-
3Gain-
MICAL3-
-
-
-
3Gain-
MIDN-
-
-
-
1Loss-
MIEF2-
-
-
-
1Loss-
MIER2-
-
-
-
1Loss-
MIER3-
-
-
-
1Loss-
MILR1-
-
-
-
3Gain-
MINDY4B-
-
-
-
3Gain-
MINK1-
-
-
-
1Loss-
MIS12-
-
-
-
1Loss-
MIS18A-
-
-
-
3Gain-
MISP-
-
-
-
1Loss-
MISP3-
-
-
-
1Loss-
MKLN1-
-
-
-
1Loss-
MKNK2-
-
-
-
1Loss-
MKRN1-
-
-
-
1Loss-
MKRN2-
-
-
-
1Loss-
MKRN2OS-
-
-
-
1Loss-
MKRN3-
-
-
-
1Loss-
MKS1-
-
-
-
3Gain-
MLANA-
-
-
-
1Loss-
MLF1-
-
-
-
3Gain-
MLF2-
-
-
-
1Loss-
MLLT1-
-
-
-
1Loss-
MLLT3-
-
-
-
1Loss-
MLPH-
-
-
-
1Loss-
MMD-
-
-
-
3Gain-
MME-
-
-
-
3Gain-
MMEL1p.E649K
Missense
SNP
0.442
3Gain-
MMP1-
-
-
-
1Loss-
MMP10-
-
-
-
1Loss-
MMP12-
-
-
-
1Loss-
MMP13-
-
-
-
1Loss-
MMP20-
-
-
-
1Loss-
MMP23B-
-
-
-
3Gain-
MMP27-
-
-
-
1Loss-
MMP3-
-
-
-
1Loss-
MMP7-
-
-
-
1Loss-
MMP8-
-
-
-
1Loss-
MNT-
-
-
-
1Loss-
MNX1-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOB3B-
-
-
-
1Loss-
MOCOS-
-
-
-
3Gain-
MOCS2-
-
-
-
1Loss-
MOGAT1-
-
-
-
1Loss-
MOGAT2-
-
-
-
1Loss-
MORC1-
-
-
-
3Gain-
MORC3-
-
-
-
3Gain-
MORN1-
-
-
-
3Gain-
MPDU1-
-
-
-
1Loss-
MPDZ-
-
-
-
1Loss-
MPND-
-
-
-
1Loss-
MPO-
-
-
-
3Gain-
MPP4-
-
-
-
1Loss-
MPPE1-
-
-
-
1Loss-
MPRIP-
-
-
-
1Loss-
MPV17L2-
-
-
-
1Loss-
MPZL2-
-
-
-
1Loss-
MPZL3-
-
-
-
1Loss-
MRAP-
-
-
-
3Gain-
MRAS-
-
-
-
3Gain-
MRC2-
-
-
-
3Gain-
MRE11-
-
-
-
1Loss-
MREG-
-
-
-
1Loss-
MRGPRD-
-
-
-
1Loss-
MRGPRF-
-
-
-
1Loss-
MRI1-
-
-
-
1Loss-
MRM3-
-
-
-
1Loss-
MRO-
-
-
-
3Gain-
MROH2A-
-
-
-
1Loss-
MROH2B-
-
-
-
3Gain-
MRPL10-
-
-
-
3Gain-
MRPL20-
-
-
-
3Gain-
MRPL21-
-
-
-
1Loss-
MRPL27-
-
-
-
3Gain-
MRPL3-
-
-
-
3Gain-
MRPL34-
-
-
-
1Loss-
MRPL36-
-
-
-
3Gain-
MRPL4-
-
-
-
1Loss-
MRPL40-
-
-
-
3Gain-
MRPL44-
-
-
-
1Loss-
MRPL47-
-
-
-
3Gain-
MRPL48-
-
-
-
1Loss-
MRPL51-
-
-
-
1Loss-
MRPL54-
-
-
-
1Loss-
MRPS22-
-
-
-
3Gain-
MRPS23-
-
-
-
3Gain-
MRPS25-
-
-
-
1Loss-
MRPS27-
-
-
-
1Loss-
MRPS30-
-
-
-
3Gain-
MRPS33-
-
-
-
1Loss-
MRPS36-
-
-
-
1Loss-
MRPS6-
-
-
-
3Gain-
MSANTD2-
-
-
-
1Loss-
MSANTD4-
-
-
-
1Loss-
MSH3-
-
-
-
1Loss-
MSI2-
-
-
-
3Gain-
MSL2-
-
-
-
3Gain-
MSMP-
-
-
-
1Loss-
MST1Rp.G698A
Missense
SNP
0.430
2--
MTAP-
-
-
-
1Loss-
MTCL1-
-
-
-
1Loss-
MTERF4-
-
-
-
1Loss-
MTG1-
-
-
-
1Loss-
MTMR10-
-
-
-
3Gain-
MTMR12-
-
-
-
3Gain-
MTMR14-
-
-
-
1Loss-
MTMR2-
-
-
-
1Loss-
MTMR4-
-
-
-
3Gain-
MTNR1B-
-
-
-
1Loss-
MTPN-
-
-
-
1Loss-
MTRR-
-
-
-
3Gain-
MTX3-
-
-
-
1Loss-
MUC13-
-
-
-
3Gain-
MUC16-
-
-
-
1Loss-
MUC20-
-
-
-
3Gain-
MUC4-
-
-
-
3Gain-
MUC5Bp.X5532_splice
Splice_Site
SNP
0.460
2--
MUM1-
-
-
-
1Loss-
MVB12A-
-
-
-
1Loss-
MX1-
-
-
-
3Gain-
MX2-
-
-
-
3Gain-
MXRA8-
-
-
-
3Gain-
MYBBP1A-
-
-
-
1Loss-
MYBPC3p.E1269Q
Missense
SNP
0.545
2--
MYCBP2p.R1130K
Missense
SNP
0.199
2--
MYCBPAP-
-
-
-
3Gain-
MYDGF-
-
-
-
1Loss-
MYEF2-
-
-
-
3Gain-
MYEOV-
-
-
-
1Loss-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH13p.E21K
Missense
SNP
0.803
1Loss-
MYH15-
-
-
-
3Gain-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH6p.E904K
Missense
SNP
0.446
2--
MYH8-
-
-
-
1Loss-
MYL1-
-
-
-
1Loss-
MYL12A-
-
-
-
1Loss-
MYL12B-
-
-
-
1Loss-
MYL6-
-
-
-
2-MYL6--COP1
MYLK-
-
-
-
3Gain-
MYNN-
-
-
-
3Gain-
MYO10-
-
-
-
3Gain-
MYO15A-
-
-
-
1Loss-
MYO19p.L475V
Missense
SNP
0.386
2--
MYO1C-
-
-
-
1Loss-
MYO1F-
-
-
-
1Loss-
MYO1G-
-
-
-
1Loss-
MYO5A-
-
-
-
3Gain-
MYO5B-
-
-
-
3Gain-
MYO5C-
-
-
-
3Gain-
MYO7Ap.T2165I
Missense
SNP
0.791
1Loss-
MYO9B-
-
-
-
1Loss-
MYOCD-
-
-
-
1Loss-
MYOM1-
-
-
-
1Loss-
MYORG-
-
-
-
1Loss-
MZT2B-
-
-
-
1Loss-
N4BP1p.X630_splice
Splice_Site
SNP
0.457
2--
NAA38-
-
-
-
1Loss-
NAA50-
-
-
-
3Gain-
NAALAD2-
-
-
-
1Loss-
NAALADL2-
-
-
-
3Gain-
NACA2-
-
-
-
3Gain-
NACAD-
-
-
-
1Loss-
NACC1-
-
-
-
1Loss-
NADK-
-
-
-
3Gain-
NADK2-
-
-
-
3Gain-
NADSYN1-
-
-
-
1Loss-
NAIP-
-
-
-
1Loss-
NANOG-
-
-
-
1Loss-
NANOGNB-
-
-
-
1Loss-
NANOGP8-
-
-
-
3Gain-
NANOS3-
-
-
-
1Loss-
NAPG-
-
-
-
1Loss-
NARS-
-
-
-
3Gain-
NARS2-
-
-
-
1Loss-
NATD1-
-
-
-
1Loss-
NBASp.E820K
Missense
SNP
0.418
2--
NBEAp.P1897A
Missense
SNP
0.458
2--
NBEAL1-
-
-
-
1Loss-
NBPF1-
-
-
-
0Del-
NBPF10-
-
-
-
0Del-
NBPF11-
-
-
-
1Loss-
NBPF12-
-
-
-
0Del-
NBPF14-
-
-
-
0Del-
NBPF15-
-
-
-
1Loss-
NBPF19-
-
-
-
0Del-
NBPF20-
-
-
-
0Del-
NBPF9-
-
-
-
0Del-
NCAM1-
-
-
-
1Loss-
NCAN-
-
-
-
1Loss-
NCAPD2-
-
-
-
1Loss-
NCAPD3-
-
-
-
1Loss-
NCAPG2-
-
-
-
1Loss-
NCBP2-
-
-
-
3Gain-
NCBP2-AS2-
-
-
-
3Gain-
NCBP3-
-
-
-
1Loss-
NCEH1-
-
-
-
3Gain-
NCK1-
-
-
-
3Gain-
NCL-
-
-
-
1Loss-
NCLN-
-
-
-
1Loss-
NCOA2p.Q1249H
Missense
SNP
0.474
2--
NCOR1-
-
-
-
1Loss-
NCSTNp.D112H
Missense
SNP
0.447
2--
NDC80-
-
-
-
1Loss-
NDEL1-
-
-
-
1Loss-
NDN-
-
-
-
1Loss-
NDUFA10-
-
-
-
1Loss-
NDUFA11-
-
-
-
1Loss-
NDUFA13-
-
-
-
1Loss-
NDUFA5-
-
-
-
1Loss-
NDUFA7-
-
-
-
1Loss-
NDUFA9-
-
-
-
1Loss-
NDUFAF1-
-
-
-
3Gain-
NDUFAF2-
-
-
-
1Loss-
NDUFB2-
-
-
-
1Loss-
NDUFB3-
-
-
-
1Loss-
NDUFB4-
-
-
-
3Gain-
NDUFB5-
-
-
-
3Gain-
NDUFB6-
-
-
-
1Loss-
NDUFB7-
-
-
-
1Loss-
NDUFC2-
-
-
-
1Loss-
NDUFC2-KCTD14-
-
-
-
1Loss-
NDUFS1-
-
-
-
1Loss-
NDUFS4-
-
-
-
1Loss-
NDUFS6-
-
-
-
3Gain-
NDUFS7-
-
-
-
1Loss-
NDUFV2-
-
-
-
1Loss-
NDUFV3-
-
-
-
3Gain-
NECAP1-
-
-
-
1Loss-
NECTIN1-
-
-
-
1Loss-
NECTIN3-
-
-
-
3Gain-
NEDD4Lp.E18Q
p.K25Q
Missense
Missense
SNP
SNP
0.361
0.332
3Gain-
NEK10-
-
-
-
1Loss-
NEK11p.A219S
p.E224K
Missense
Missense
SNP
SNP
0.243
0.241
3Gain-
NELFCDp.L128F
Missense
SNP
0.472
2--
NEMP2p.S365L
Missense
SNP
0.396
2--
NEPRO-
-
-
-
3Gain-
NESp.L412F
Missense
SNP
0.371
2--
NETO1-
-
-
-
3Gain-
NEU2-
-
-
-
1Loss-
NEU3-
-
-
-
1Loss-
NEU4-
-
-
-
1Loss-
NEURL4-
-
-
-
1Loss-
NFATC1-
-
-
-
3Gain-
NFE2L1-
-
-
-
3Gain-
NFIB-
-
-
-
1Loss-
NFIC-
-
-
-
1Loss-
NFIX-
-
-
-
1Loss-
NFKBIZ-
-
-
-
3Gain-
NFRKB-
-
-
-
1Loss-
NFX1-
-
-
-
1Loss-
NGEF-
-
-
-
1Loss-
NGFR-
-
-
-
3Gain-
NGLY1-
-
-
-
1Loss-
NHEJ1-
-
-
-
1Loss-
NIF3L1-
-
-
-
1Loss-
NIM1K-
-
-
-
3Gain-
NINJ2-
-
-
-
1Loss-
NIPA1-
-
-
-
1Loss-
NIPA2-
-
-
-
1Loss-
NIPBLp.S2513*
Nonsense
SNP
0.296
3Gain-
NIT2-
-
-
-
3Gain-
NKAPD1-
-
-
-
1Loss-
NKD2-
-
-
-
3Gain-
NKIRAS1-
-
-
-
1Loss-
NLGN1-
-
-
-
3Gain-
NLGN2-
-
-
-
1Loss-
NLN-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NLRX1-
-
-
-
1Loss-
NMD3-
-
-
-
3Gain-
NME1-
-
-
-
3Gain-
NME1-NME2-
-
-
-
3Gain-
NME9-
-
-
-
3Gain-
NMNAT3-
-
-
-
3Gain-
NMRK2-
-
-
-
1Loss-
NMUR1-
-
-
-
1Loss-
NNMT-
-
-
-
1Loss-
NNT-
-
-
-
3Gain-
NOBOX-
-
-
-
1Loss-
NOC2L-
-
-
-
3Gain-
NOG-
-
-
-
3Gain-
NOL11-
-
-
-
3Gain-
NOL4-
-
-
-
3Gain-
NOL6-
-
-
-
1Loss-
NOL9-
-
-
-
3Gain-
NOLC1p.Q98E
Missense
SNP
0.421
2--
NOM1-
-
-
-
1Loss-
NOP10-
-
-
-
3Gain-
NOP2-
-
-
-
1Loss-
NOP58-
-
-
-
1Loss-
NOS3-
-
-
-
1Loss-
NOTCH2NLA-
-
-
-
0Del-
NOTCH3-
-
-
-
1Loss-
NOX4-
-
-
-
1Loss-
NPAP1-
-
-
-
1Loss-
NPAT-
-
-
-
1Loss-
NPC1-
-
-
-
3Gain-
NPC1L1-
-
-
-
1Loss-
NPHP3-
-
-
-
3Gain-
NPHP3-ACAD11-
-
-
-
3Gain-
NPHP4-
-
-
-
3Gain-
NPPC-
-
-
-
1Loss-
NPR2-
-
-
-
1Loss-
NPR3-
-
-
-
3Gain-
NR1D2-
-
-
-
1Loss-
NR1I2-
-
-
-
3Gain-
NR2C2-
-
-
-
1Loss-
NR2C2AP-
-
-
-
1Loss-
NR2F1-
-
-
-
1Loss-
NR2F6-
-
-
-
1Loss-
NRCAMp.R16K
Missense
SNP
0.367
2--
NREP-
-
-
-
1Loss-
NRF1-
-
-
-
1Loss-
NRGN-
-
-
-
1Loss-
NRIP2-
-
-
-
1Loss-
NRKp.D195H
Missense
SNP
0.852
NDND-
NRP2-
-
-
-
1Loss-
NRROS-
-
-
-
3Gain-
NRTN-
-
-
-
1Loss-
NSA2-
-
-
-
1Loss-
NSMAFp.D389N
Missense
SNP
0.379
2--
NSMCE3-
-
-
-
1Loss-
NSUN2-
-
-
-
3Gain-
NSUN3-
-
-
-
3Gain-
NT5M-
-
-
-
1Loss-
NTF3-
-
-
-
1Loss-
NTM-
-
-
-
1Loss-
NTN1-
-
-
-
1Loss-
NTN3p.Q413H
Missense
SNP
0.476
2--
NTSR1p.D149N
Missense
SNP
0.415
2--
NUB1-
-
-
-
1Loss-
NUDT12-
-
-
-
1Loss-
NUDT13p.Q317*
Nonsense
SNP
0.385
2--
NUDT16-
-
-
-
3Gain-
NUDT2-
-
-
-
1Loss-
NUMA1-
-
-
-
1Loss-
NUP155-
-
-
-
3Gain-
NUP205-
-
-
-
1Loss-
NUP210-
-
-
-
1Loss-
NUP88-
-
-
-
1Loss-
NUSAP1-
-
-
-
3Gain-
NUTM1-
-
-
-
3Gain-
NWD1-
-
-
-
1Loss-
NXN-
-
-
-
1Loss-
NXNL1-
-
-
-
1Loss-
NXPE1-
-
-
-
1Loss-
NXPE2-
-
-
-
1Loss-
NXPE3-
-
-
-
3Gain-
NXPE4-
-
-
-
1Loss-
NXPH3-
-
-
-
3Gain-
NYAP2-
-
-
-
1Loss-
OAF-
-
-
-
1Loss-
OAZ1-
-
-
-
1Loss-
OBSL1-
-
-
-
1Loss-
OCA2-
-
-
-
1Loss-
OCEL1-
-
-
-
1Loss-
OCLN-
-
-
-
1Loss-
ODF3L2-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
OGDH-
-
-
-
1Loss-
OGFRL1p.S334F
Missense
SNP
0.461
2--
OGG1-
-
-
-
1Loss-
OIP5-
-
-
-
3Gain-
OLFM2-
-
-
-
1Loss-
OLIG1-
-
-
-
3Gain-
OLIG2-
-
-
-
3Gain-
OLR1-
-
-
-
1Loss-
OMP-
-
-
-
1Loss-
ONECUT1-
-
-
-
3Gain-
ONECUT2-
-
-
-
3Gain-
ONECUT3-
-
-
-
1Loss-
OPA1-
-
-
-
3Gain-
OPCML-
-
-
-
1Loss-
OPN1SW-
-
-
-
1Loss-
OR10D3-
-
-
-
1Loss-
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8-
-
-
-
1Loss-
OR10G9-
-
-
-
1Loss-
OR10H1-
-
-
-
1Loss-
OR10H2-
-
-
-
1Loss-
OR10H3-
-
-
-
1Loss-
OR10H4-
-
-
-
1Loss-
OR10H5-
-
-
-
1Loss-
OR10S1-
-
-
-
1Loss-
OR13J1-
-
-
-
1Loss-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR1I1-
-
-
-
1Loss-
OR1M1-
-
-
-
1Loss-
OR2A1-
-
-
-
1Loss-
OR2A12-
-
-
-
1Loss-
OR2A14-
-
-
-
1Loss-
OR2A2-
-
-
-
1Loss-
OR2A25-
-
-
-
1Loss-
OR2A42-
-
-
-
1Loss-
OR2A5-
-
-
-
1Loss-
OR2A7-
-
-
-
1Loss-
OR2AT4-
-
-
-
1Loss-
OR2F1-
-
-
-
1Loss-
OR2F2-
-
-
-
1Loss-
OR2M3p.L130V
Missense
SNP
0.387
2--
OR2S2-
-
-
-
1Loss-
OR2Z1-
-
-
-
1Loss-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4D1-
-
-
-
3Gain-
OR4D2-
-
-
-
3Gain-
OR4D5-
-
-
-
1Loss-
OR4F17-
-
-
-
1Loss-
OR4M2-
-
-
-
0Del-
OR4N4-
-
-
-
0Del-
OR5AC2p.S249C
Missense
SNP
0.318
3Gain-
OR5H1-
-
-
-
3Gain-
OR5H14-
-
-
-
3Gain-
OR5H15-
-
-
-
3Gain-
OR5H2-
-
-
-
3Gain-
OR5H6-
-
-
-
3Gain-
OR5K1-
-
-
-
3Gain-
OR5K2-
-
-
-
3Gain-
OR5K3-
-
-
-
3Gain-
OR5K4-
-
-
-
3Gain-
OR5P3p.D192H
Missense
SNP
0.413
2--
OR6B1-
-
-
-
1Loss-
OR6B2-
-
-
-
1Loss-
OR6B3-
-
-
-
1Loss-
OR6M1-
-
-
-
1Loss-
OR6N2p.R293C
Missense
SNP
0.435
2--
OR6T1-
-
-
-
1Loss-
OR6V1-
-
-
-
1Loss-
OR6X1-
-
-
-
1Loss-
OR7A10-
-
-
-
1Loss-
OR7A17-
-
-
-
1Loss-
OR7A5-
-
-
-
1Loss-
OR7C1-
-
-
-
1Loss-
OR7C2-
-
-
-
1Loss-
OR7D2-
-
-
-
1Loss-
OR7D4-
-
-
-
1Loss-
OR7E24-
-
-
-
1Loss-
OR7G1-
-
-
-
1Loss-
OR7G2-
-
-
-
1Loss-
OR7G3-
-
-
-
1Loss-
OR8A1-
-
-
-
1Loss-
OR8B12-
-
-
-
1Loss-
OR8B2-
-
-
-
1Loss-
OR8B3-
-
-
-
1Loss-
OR8B4-
-
-
-
1Loss-
OR8B8-
-
-
-
1Loss-
OR8D1-
-
-
-
1Loss-
OR8D2-
-
-
-
1Loss-
OR8D4-
-
-
-
1Loss-
OR8G1-
-
-
-
1Loss-
OR8G5-
-
-
-
1Loss-
OR9A2-
-
-
-
1Loss-
OR9A4-
-
-
-
1Loss-
ORC2-
-
-
-
1Loss-
OSBPL10-
-
-
-
1Loss-
OSBPL11-
-
-
-
3Gain-
OSBPL1A-
-
-
-
3Gain-
OSBPL3p.Q836H
Missense
SNP
0.357
2--
OSBPL7-
-
-
-
3Gain-
OSMR-
-
-
-
3Gain-
OSTN-
-
-
-
3Gain-
OTOL1-
-
-
-
3Gain-
OTOS-
-
-
-
1Loss-
OTP-
-
-
-
1Loss-
OTUD7A-
-
-
-
3Gain-
OTULIN-
-
-
-
3Gain-
OTULINL-
-
-
-
3Gain-
OVCA2-
-
-
-
1Loss-
OXCT1-
-
-
-
3Gain-
OXNAD1-
-
-
-
1Loss-
OXSM-
-
-
-
1Loss-
OXTR-
-
-
-
1Loss-
P2RX1-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RX6p.F332L
Missense
SNP
0.240
3Gain-
P2RY1-
-
-
-
3Gain-
P2RY11-
-
-
-
1Loss-
P2RY12-
-
-
-
3Gain-
P2RY13-
-
-
-
3Gain-
P2RY14-
-
-
-
3Gain-
P2RY2-
-
-
-
1Loss-
P2RY6-
-
-
-
1Loss-
P3H2-
-
-
-
3Gain-
P3H3-
-
-
-
1Loss-
P4HA2-
-
-
-
1Loss-
P4HA3p.L87V
Missense
SNP
0.818
1Loss-
PAAF1-
-
-
-
1Loss-
PAF1p.E152Q
p.Q113*
Missense
Nonsense
SNP
SNP
0.415
0.484
2--
PAFAH1B1-
-
-
-
1Loss-
PAFAH1B2-
-
-
-
1Loss-
PAIP1-
-
-
-
3Gain-
PAK1-
-
-
-
1Loss-
PAK2p.K223N
Missense
SNP
0.345
3Gain-
PAK6-
-
-
-
3Gain-
PALM-
-
-
-
1Loss-
PALM3-
-
-
-
1Loss-
PAM-
-
-
-
1Loss-
PANK4-
-
-
-
3Gain-
PANX1-
-
-
-
1Loss-
PANX3-
-
-
-
1Loss-
PAOX-
-
-
-
1Loss-
PAQR9-
-
-
-
3Gain-
PARD3B-
-
-
-
1Loss-
PARD6Bp.Q251H
Missense
SNP
0.434
2--
PARD6G-
-
-
-
3Gain-
PARK7-
-
-
-
3Gain-
PARL-
-
-
-
3Gain-
PARP11-
-
-
-
1Loss-
PARP12-
-
-
-
1Loss-
PARP14-
-
-
-
3Gain-
PARP15-
-
-
-
3Gain-
PARP8-
-
-
-
1Loss-
PARP9-
-
-
-
3Gain-
PASK-
-
-
-
1Loss-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PATL2-
-
-
-
3Gain-
PAX3-
-
-
-
1Loss-
PAX4-
-
-
-
1Loss-
PAX5-
-
-
-
1Loss-
PAXBP1-
-
-
-
3Gain-
PAXIP1-
-
-
-
1Loss-
PBX4-
-
-
-
1Loss-
PCBD2-
-
-
-
1Loss-
PCBP3-
-
-
-
3Gain-
PCCB-
-
-
-
3Gain-
PCDH10p.Q271K
Missense
SNP
0.478
2--
PCDHA11p.D159H
Missense
SNP
0.877
2--
PCDHGA10p.E839K
Missense
SNP
0.484
2--
PCDHGB2p.E529K
Missense
SNP
0.471
2--
PCF11-
-
-
-
1Loss-
PCNP-
-
-
-
3Gain-
PCNT-
-
-
-
3Gain-
PCOLCE2-
-
-
-
3Gain-
PCP2-
-
-
-
1Loss-
PCP4-
-
-
-
3Gain-
PCSK1-
-
-
-
1Loss-
PCSK4-
-
-
-
1Loss-
PCSK7-
-
-
-
1Loss-
PCTP-
-
-
-
3Gain-
PCYT1A-
-
-
-
3Gain-
PDCD1-
-
-
-
1Loss-
PDCD10-
-
-
-
3Gain-
PDCD1LG2-
-
-
-
1Loss-
PDCD6-
-
-
-
3Gain-
PDE1Bp.S454C
p.Q461*
Missense
Nonsense
SNP
SNP
0.426
0.395
2--
PDE2A-
-
-
-
1Loss-
PDE3A-
-
-
-
3Gain-
PDE4A-
-
-
-
1Loss-
PDE4C-
-
-
-
1Loss-
PDE4D-
-
-
-
1Loss-
PDE6D-
-
-
-
1Loss-
PDE6H-
-
-
-
5Amp-
PDE8B-
-
-
-
1Loss-
PDE9A-
-
-
-
3Gain-
PDGFD-
-
-
-
1Loss-
PDIA3-
-
-
-
3Gain-
PDIA4-
-
-
-
1Loss-
PDIA5-
-
-
-
3Gain-
PDK2-
-
-
-
3Gain-
PDLIM4-
-
-
-
1Loss-
PDXK-
-
-
-
3Gain-
PDZD2-
-
-
-
3Gain-
PDZD3-
-
-
-
1Loss-
PEAK3-
-
-
-
1Loss-
PECAM1-
-
-
-
3Gain-
PECR-
-
-
-
1Loss-
PELO-
-
-
-
1Loss-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PER1-
-
-
-
1Loss-
PER2-
-
-
-
1Loss-
PER3-
-
-
-
3Gain-
PERM1-
-
-
-
3Gain-
PET100-
-
-
-
1Loss-
PEX10-
-
-
-
3Gain-
PEX11G-
-
-
-
1Loss-
PEX26-
-
-
-
3Gain-
PEX5-
-
-
-
1Loss-
PEX5L-
-
-
-
3Gain-
PFAS-
-
-
-
1Loss-
PFKL-
-
-
-
3Gain-
PFN1-
-
-
-
1Loss-
PFN2-
-
-
-
3Gain-
PGBD2p.H69Y
Missense
SNP
0.443
2--
PGBD4-
-
-
-
3Gain-
PGGT1B-
-
-
-
1Loss-
PGLS-
-
-
-
1Loss-
PGLYRP2-
-
-
-
1Loss-
PGM2L1-
-
-
-
1Loss-
PGPEP1-
-
-
-
1Loss-
PGR-
-
-
-
1Loss-
PHAX-
-
-
-
1Loss-
PHB-
-
-
-
3Gain-
PHB2-
-
-
-
1Loss-
PHC1-
-
-
-
1Loss-
PHC3-
-
-
-
3Gain-
PHF13-
-
-
-
3Gain-
PHF23-
-
-
-
1Loss-
PHF24-
-
-
-
1Loss-
PHGR1-
-
-
-
3Gain-
PHLDB1-
-
-
-
1Loss-
PHLDB2-
-
-
-
3Gain-
PHLPP1-
-
-
-
3Gain-
PHOSPHO1-
-
-
-
3Gain-
PHOX2A-
-
-
-
1Loss-
PHYHIPLp.E235K
Missense
SNP
0.473
2--
PI4KA-
-
-
-
3Gain-
PIANP-
-
-
-
1Loss-
PIAS2-
-
-
-
3Gain-
PIAS3p.R249P
Missense
SNP
0.403
2--
PIAS4-
-
-
-
1Loss-
PICALM-
-
-
-
1Loss-
PID1-
-
-
-
1Loss-
PIEZO2-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGN-
-
-
-
3Gain-
PIGO-
-
-
-
1Loss-
PIGP-
-
-
-
3Gain-
PIGX-
-
-
-
3Gain-
PIGZ-
-
-
-
3Gain-
PIH1D2-
-
-
-
1Loss-
PIK3C2G-
-
-
-
3Gain-
PIK3C3-
-
-
-
3Gain-
PIK3CA-
-
-
-
3Gain-
PIK3CB-
-
-
-
3Gain-
PIK3R1-
-
-
-
1Loss-
PIK3R2-
-
-
-
1Loss-
PIK3R4p.E1296Q
Missense
SNP
0.311
3Gain-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIKFYVE-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PIN1-
-
-
-
1Loss-
PIP-
-
-
-
1Loss-
PIP5K1C-
-
-
-
1Loss-
PIRT-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNC1-
-
-
-
3Gain-
PITPNM3-
-
-
-
1Loss-
PITX1-
-
-
-
1Loss-
PIWIL4-
-
-
-
1Loss-
PJA2-
-
-
-
1Loss-
PKD1L1-
-
-
-
1Loss-
PKN1-
-
-
-
1Loss-
PKNOX1-
-
-
-
3Gain-
PKNOX2-
-
-
-
1Loss-
PLA1A-
-
-
-
3Gain-
PLA2G4B-
-
-
-
3Gain-
PLA2G4D-
-
-
-
3Gain-
PLA2G4E-
-
-
-
3Gain-
PLA2G4F-
-
-
-
3Gain-
PLA2R1p.D1320H
Missense
SNP
0.407
2--
PLAA-
-
-
-
1Loss-
PLBD1-
-
-
-
1Loss-
PLCB2-
-
-
-
3Gain-
PLCD4-
-
-
-
1Loss-
PLCH1-
-
-
-
3Gain-
PLCH2-
-
-
-
3Gain-
PLCL2-
-
-
-
1Loss-
PLCXD2-
-
-
-
3Gain-
PLCXD3-
-
-
-
3Gain-
PLCZ1-
-
-
-
3Gain-
PLD1p.S69L
Missense
SNP
0.295
3Gain-
PLD2-
-
-
-
1Loss-
PLD6-
-
-
-
1Loss-
PLEKHA5-
-
-
-
3Gain-
PLEKHB1-
-
-
-
1Loss-
PLEKHG4B-
-
-
-
3Gain-
PLEKHG5-
-
-
-
3Gain-
PLEKHG6-
-
-
-
1Loss-
PLEKHJ1-
-
-
-
1Loss-
PLEKHM3-
-
-
-
1Loss-
PLEKHN1-
-
-
-
3Gain-
PLET1-
-
-
-
1Loss-
PLGRKT-
-
-
-
1Loss-
PLIN2-
-
-
-
1Loss-
PLIN3-
-
-
-
1Loss-
PLIN4-
-
-
-
1Loss-
PLIN5-
-
-
-
1Loss-
PLK2-
-
-
-
1Loss-
PLK5-
-
-
-
1Loss-
PLOD2-
-
-
-
3Gain-
PLPP2-
-
-
-
1Loss-
PLPP6-
-
-
-
1Loss-
PLPPR2-
-
-
-
1Loss-
PLPPR3-
-
-
-
1Loss-
PLS1-
-
-
-
3Gain-
PLSCR1-
-
-
-
3Gain-
PLSCR2-
-
-
-
3Gain-
PLSCR3-
-
-
-
1Loss-
PLSCR4-
-
-
-
3Gain-
PLSCR5-
-
-
-
3Gain-
PLVAP-
-
-
-
1Loss-
PLXNA1-
-
-
-
3Gain-
PLXNA4-
-
-
-
1Loss-
PLXND1-
-
-
-
3Gain-
PMAIP1-
-
-
-
3Gain-
PMP22-
-
-
-
1Loss-
PNKD-
-
-
-
1Loss-
PNPLA6-
-
-
-
1Loss-
PNPO-
-
-
-
3Gain-
POC5-
-
-
-
1Loss-
PODNL1-
-
-
-
1Loss-
PODXL-
-
-
-
1Loss-
PODXL2-
-
-
-
3Gain-
POFUT2-
-
-
-
3Gain-
POGLUT1-
-
-
-
3Gain-
POLD3-
-
-
-
1Loss-
POLG2-
-
-
-
3Gain-
POLI-
-
-
-
3Gain-
POLK-
-
-
-
1Loss-
POLQ-
-
-
-
3Gain-
POLR1E-
-
-
-
1Loss-
POLR2A-
-
-
-
1Loss-
POLR2E-
-
-
-
1Loss-
POLR2H-
-
-
-
3Gain-
POLR2J-
-
-
-
1Loss-
POLR2J2-
-
-
-
1Loss-
POLR2J3-
-
-
-
1Loss-
POLR3G-
-
-
-
1Loss-
POLRMT-
-
-
-
1Loss-
POM121L12-
-
-
-
1Loss-
POPDC2-
-
-
-
3Gain-
POT1-
-
-
-
1Loss-
POTEB-
-
-
-
0Del-
POTEB2-
-
-
-
0Del-
POTEB3-
-
-
-
0Del-
POTEC-
-
-
-
1Loss-
POTEF-
-
-
-
1Loss-
POU2AF1-
-
-
-
1Loss-
POU2F3-
-
-
-
1Loss-
POU5F2-
-
-
-
1Loss-
PP2D1-
-
-
-
1Loss-
PPAN-
-
-
-
1Loss-
PPAN-P2RY11-
-
-
-
1Loss-
PPARG-
-
-
-
1Loss-
PPFIA1-
-
-
-
1Loss-
PPIA-
-
-
-
1Loss-
PPIAL4C-
-
-
-
0Del-
PPIAL4D-
-
-
-
1Loss-
PPIAL4E-
-
-
-
1Loss-
PPIAL4F-
-
-
-
1Loss-
PPIAL4G-
-
-
-
1Loss-
PPIC-
-
-
-
1Loss-
PPIL2-
-
-
-
3GainPPIL2--AC091057.6
PPIL2--AC091057.7
PPIL3-
-
-
-
1Loss-
PPIP5K1-
-
-
-
3Gain-
PPIP5K2-
-
-
-
1Loss-
PPM1D-
-
-
-
3Gain-
PPM1E-
-
-
-
3Gain-
PPM1L-
-
-
-
3Gain-
PPME1-
-
-
-
1Loss-
PPP1R14D-
-
-
-
3Gain-
PPP1R2-
-
-
-
3Gain-
PPP1R3Ap.S1074C
Missense
SNP
0.786
1Loss-
PPP1R7-
-
-
-
1Loss-
PPP1R9B-
-
-
-
3Gain-
PPP2CA-
-
-
-
1Loss-
PPP2R1B-
-
-
-
1Loss-
PPP2R3A-
-
-
-
3Gain-
PPP4R1p.E354Q
Missense
SNP
0.786
1Loss-
PPP6R2p.G268R
Missense
SNP
0.409
2--
PPWD1-
-
-
-
1Loss-
PQBP1p.E122*
Nonsense
SNP
0.810
NDND-
PQLC1-
-
-
-
3Gain-
PQLC2L-
-
-
-
3Gain-
PRAC1-
-
-
-
3Gain-
PRAM1-
-
-
-
1Loss-
PRAMEF11-
-
-
-
1Loss-
PRAMEF13-
-
-
-
1Loss-
PRAMEF14-
-
-
-
1Loss-
PRAMEF15-
-
-
-
1Loss-
PRAMEF18-
-
-
-
1Loss-
PRAMEF19-
-
-
-
1Loss-
PRAMEF2-
-
-
-
1Loss-
PRAMEF20-
-
-
-
1Loss-
PRAMEF25-
-
-
-
1Loss-
PRAMEF26-
-
-
-
1Loss-
PRAMEF27-
-
-
-
1Loss-
PRAMEF4-
-
-
-
1Loss-
PRAMEF5-
-
-
-
1Loss-
PRAMEF6-
-
-
-
1Loss-
PRAMEF7-
-
-
-
1Loss-
PRAMEF9-
-
-
-
1Loss-
PRAP1-
-
-
-
1Loss-
PRB1-
-
-
-
1Loss-
PRB2-
-
-
-
1Loss-
PRB3-
-
-
-
1Loss-
PRB4-
-
-
-
1Loss-
PRCP-
-
-
-
1Loss-
PRDM10-
-
-
-
1Loss-
PRDM15-
-
-
-
3Gain-
PRDM16-
-
-
-
3Gain-
PRDM6-
-
-
-
1Loss-
PRDM9-
-
-
-
3Gain-
PRDX2-
-
-
-
1Loss-
PRELID3A-
-
-
-
1Loss-
PRH1-
-
-
-
1Loss-
PRH1-PRR4-
-
-
-
1Loss-
PRH2-
-
-
-
1Loss-
PRKAA1-
-
-
-
3Gain-
PRKACA-
-
-
-
1Loss-
PRKAG2-
-
-
-
1Loss-
PRKAG3-
-
-
-
1Loss-
PRKAR1A-
-
-
-
3Gain-
PRKCA-
-
-
-
3Gain-
PRKCI-
-
-
-
3Gain-
PRKCSH-
-
-
-
1Loss-
PRKCZ-
-
-
-
3Gain-
PRKD3p.E778K
Missense
SNP
0.384
2--
PRLH-
-
-
-
1Loss-
PRLR-
-
-
-
3Gain-
PRMT2-
-
-
-
3Gain-
PRMT8-
-
-
-
1Loss-
PRODH-
-
-
-
3Gain-
PROS1-
-
-
-
3Gain-
PRPF8-
-
-
-
1Loss-
PRPSAP2-
-
-
-
1Loss-
PRR11-
-
-
-
3Gain-
PRR14Lp.G1804A
Missense
SNP
0.455
2--
PRR15L-
-
-
-
3Gain-
PRR16-
-
-
-
1Loss-
PRR22-
-
-
-
1Loss-
PRR23A-
-
-
-
3Gain-
PRR23B-
-
-
-
3Gain-
PRR23C-
-
-
-
3Gain-
PRR29-
-
-
-
3Gain-
PRR36-
-
-
-
1Loss-
PRR4-
-
-
-
1Loss-
PRRC1-
-
-
-
1Loss-
PRRT3-
-
-
-
1Loss-
PRRT4-
-
-
-
1Loss-
PRSS1-
-
-
-
1Loss-
PRSS2-
-
-
-
1Loss-
PRSS23-
-
-
-
1Loss-
PRSS3-
-
-
-
1Loss-
PRSS37-
-
-
-
1Loss-
PRSS56-
-
-
-
1Loss-
PRSS57-
-
-
-
1Loss-
PRSS58-
-
-
-
1Loss-
PRTN3-
-
-
-
1Loss-
PRXp.S1443*
Nonsense
SNP
0.500
2--
PRXL2B-
-
-
-
3Gain-
PSIP1-
-
-
-
1Loss-
PSMA8-
-
-
-
3Gain-
PSMB6-
-
-
-
1Loss-
PSMC5-
-
-
-
3Gain-
PSMD1-
-
-
-
1Loss-
PSMD12-
-
-
-
3Gain-
PSMD2-
-
-
-
3Gain-
PSMG1-
-
-
-
3Gain-
PSMG2-
-
-
-
1Loss-
PSPN-
-
-
-
1Loss-
PSTPIP2-
-
-
-
3Gain-
PTBP1-
-
-
-
1Loss-
PTCD2-
-
-
-
1Loss-
PTCH2p.S628C
Missense
SNP
0.489
2--
PTCHD1p.L729V
Missense
SNP
0.848
NDND-
PTF1Ap.E158Q
Missense
SNP
0.542
2--
PTGER1-
-
-
-
1Loss-
PTGER4-
-
-
-
3Gain-
PTH2R-
-
-
-
1Loss-
PTK2Bp.E515K
Missense
SNP
0.581
2--
PTMA-
-
-
-
1Loss-
PTMS-
-
-
-
1Loss-
PTN-
-
-
-
1Loss-
PTPN2-
-
-
-
1Loss-
PTPN6-
-
-
-
1Loss-
PTPRD-
-
-
-
1Loss-
PTPRM-
-
-
-
1Loss-
PTPRN-
-
-
-
1Loss-
PTPRN2-
-
-
-
1Loss-
PTPRO-
-
-
-
5Amp-
PTPRS-
-
-
-
1Loss-
PTPRZ1-
-
-
-
1Loss-
PTRH2-
-
-
-
3Gain-
PTS-
-
-
-
1Loss-
PTTG1IP-
-
-
-
3Gain-
PTX3-
-
-
-
3Gain-
PUM3-
-
-
-
1Loss-
PURB-
-
-
-
1Loss-
PUS3-
-
-
-
1Loss-
PUSL1-
-
-
-
3Gain-
PXYLP1-
-
-
-
3Gain-
PYDC2-
-
-
-
3Gain-
PYROXD1-
-
-
-
3Gain-
PZP-
-
-
-
1Loss-
QTRT1-
-
-
-
1Loss-
QTRT2-
-
-
-
3Gain-
R3HDM4-
-
-
-
1Loss-
RAB11B-
-
-
-
1Loss-
RAB12-
-
-
-
1Loss-
RAB17-
-
-
-
1Loss-
RAB19-
-
-
-
1Loss-
RAB27B-
-
-
-
3Gain-
RAB30-
-
-
-
1Loss-
RAB31-
-
-
-
1Loss-
RAB38-
-
-
-
1Loss-
RAB39A-
-
-
-
1Loss-
RAB3A-
-
-
-
1Loss-
RAB3C-
-
-
-
1Loss-
RAB3D-
-
-
-
1Loss-
RAB43-
-
-
-
3Gain-
RAB5A-
-
-
-
1Loss-
RAB6A-
-
-
-
1Loss-
RAB6B-
-
-
-
3Gain-
RAB7A-
-
-
-
3Gain-
RAB8A-
-
-
-
1Loss-
RABEP1-
-
-
-
1Loss-
RABL3-
-
-
-
3Gain-
RAD1-
-
-
-
3Gain-
RAD17-
-
-
-
1Loss-
RAD18-
-
-
-
1Loss-
RAD23A-
-
-
-
1Loss-
RAD50-
-
-
-
1Loss-
RAD51-
-
-
-
3Gain-
RAD51AP1-
-
-
-
1Loss-
RAD51C-
-
-
-
3Gain-
RAD52-
-
-
-
1Loss-
RAD54Bp.Q222E
Missense
SNP
0.425
2--
RAF1-
-
-
-
1Loss-
RAI1-
-
-
-
1Loss-
RAI14-
-
-
-
3Gain-
RALBP1-
-
-
-
1Loss-
RAMP1-
-
-
-
1Loss-
RAMP3-
-
-
-
1Loss-
RANBP1-
-
-
-
3Gain-
RANBP3-
-
-
-
1Loss-
RANBP3L-
-
-
-
3Gain-
RANBP6-
-
-
-
1Loss-
RANGRF-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAP2B-
-
-
-
3Gain-
RAPGEF6-
-
-
-
1Loss-
RAPGEFL1-
-
-
-
2-CDC6--RAPGEFL1
RAPH1-
-
-
-
1Loss-
RARB-
-
-
-
1Loss-
RARRES1-
-
-
-
3Gain-
RARRES2-
-
-
-
1Loss-
RASA1-
-
-
-
1Loss-
RASA2-
-
-
-
3Gain-
RASA4-
-
-
-
1Loss-
RASA4B-
-
-
-
1Loss-
RASAL3-
-
-
-
1Loss-
RASD1-
-
-
-
1Loss-
RASGRF2-
-
-
-
1Loss-
RASGRP1-
-
-
-
3Gain-
RAVER1-
-
-
-
1Loss-
RAX-
-
-
-
3Gain-
RAX2-
-
-
-
1Loss-
RBBP8-
-
-
-
3Gain-
RBFA-
-
-
-
3Gain-
RBM28-
-
-
-
1Loss-
RBM33-
-
-
-
1Loss-
RBM44-
-
-
-
1Loss-
RBM7-
-
-
-
1Loss-
RBMS3-
-
-
-
1Loss-
RBP1-
-
-
-
3Gain-
RBP2-
-
-
-
3Gain-
RBP5-
-
-
-
1Loss-
RBSN-
-
-
-
1Loss-
RCAN1-
-
-
-
3Gain-
RCL1-
-
-
-
1Loss-
RCVRN-
-
-
-
1Loss-
RDH8-
-
-
-
1Loss-
RDM1p.E277K
Missense
SNP
0.458
2--
RDX-
-
-
-
1Loss-
RECK-
-
-
-
1Loss-
RECQL-
-
-
-
3Gain-
REEP5-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
RELCH-
-
-
-
3Gain-
RELT-
-
-
-
1Loss-
REPIN1-
-
-
-
1Loss-
RER1-
-
-
-
3Gain-
RERE-
-
-
-
3Gain-
RERG-
-
-
-
5Amp-
RERGL-
-
-
-
3Gain-
RESP18-
-
-
-
1Loss-
RETN-
-
-
-
1Loss-
RETNLB-
-
-
-
3Gain-
RETREG1-
-
-
-
3Gain-
RETREG2-
-
-
-
1Loss-
REV1p.Q130K
Missense
SNP
0.344
2--
REX1BD-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
REXO2-
-
-
-
1Loss-
RFC4-
-
-
-
3Gain-
RFESD-
-
-
-
1Loss-
RFLNB-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RFX1-
-
-
-
1Loss-
RFX2-
-
-
-
1Loss-
RFX3-
-
-
-
1Loss-
RFXANK-
-
-
-
1Loss-
RGL3-
-
-
-
1Loss-
RGMB-
-
-
-
1Loss-
RGP1-
-
-
-
1Loss-
RGS7BP-
-
-
-
1Loss-
RGS9-
-
-
-
3Gain-
RHBDD1-
-
-
-
1Loss-
RHEB-
-
-
-
1Loss-
RHNO1-
-
-
-
1Loss-
RHO-
-
-
-
3Gain-
RHOBTB3-
-
-
-
1Loss-
RHOV-
-
-
-
3Gain-
RHPN2p.V73M
Missense
SNP
0.065
2--
RIC1-
-
-
-
1Loss-
RICTOR-
-
-
-
3Gain-
RILP-
-
-
-
1Loss-
RIMKLB-
-
-
-
1Loss-
RIOK2-
-
-
-
1Loss-
RIOK3-
-
-
-
3Gain-
RIOX2-
-
-
-
3Gain-
RIPK4-
-
-
-
3Gain-
RIPPLY3-
-
-
-
3Gain-
RIT2-
-
-
-
3Gain-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RLN3-
-
-
-
1Loss-
RMC1-
-
-
-
3Gain-
RMDN3-
-
-
-
3Gain-
RN7SL1-
-
-
-
NDNDAL133410.3--RN7SL1
HINT2--RN7SL1
RNASE10p.E66K
Missense
SNP
0.581
2--
RNASEH2A-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNF112-
-
-
-
1Loss-
RNF113Bp.E277D
Missense
SNP
0.407
2--
RNF121-
-
-
-
1Loss-
RNF125-
-
-
-
3Gain-
RNF126-
-
-
-
1Loss-
RNF13-
-
-
-
3Gain-
RNF133-
-
-
-
1Loss-
RNF138-
-
-
-
3Gain-
RNF148-
-
-
-
1Loss-
RNF152-
-
-
-
3Gain-
RNF165-
-
-
-
3Gain-
RNF167-
-
-
-
1Loss-
RNF168-
-
-
-
3Gain-
RNF169-
-
-
-
1Loss-
RNF180-
-
-
-
1Loss-
RNF207-
-
-
-
3Gain-
RNF214-
-
-
-
1Loss-
RNF222-
-
-
-
1Loss-
RNF223-
-
-
-
3Gain-
RNF227-
-
-
-
1Loss-
RNF25-
-
-
-
1Loss-
RNF26-
-
-
-
1Loss-
RNF32-
-
-
-
1Loss-
RNF38-
-
-
-
1Loss-
RNF43-
-
-
-
3Gain-
RNF7-
-
-
-
3Gain-
RNFT1-
-
-
-
3Gain-
RNMT-
-
-
-
1Loss-
RNPEPL1-
-
-
-
1Loss-
ROBO3-
-
-
-
1Loss-
ROBO4-
-
-
-
1Loss-
ROCK1-
-
-
-
3Gain-
ROPN1-
-
-
-
3Gain-
ROPN1B-
-
-
-
3Gain-
ROPN1L-
-
-
-
3Gain-
RP11-468E2.1p.R439Q
Missense
SNP
0.483
NDND-
RP5-862P8.2p.S937T
Missense
SNP
0.512
NDND-
RPA1-
-
-
-
1Loss-
RPAIN-
-
-
-
1Loss-
RPAP1-
-
-
-
3Gain-
RPE-
-
-
-
1Loss-
RPH3AL-
-
-
-
1Loss-
RPL14p.K116N
Missense
SNP
0.513
2--
RPL15-
-
-
-
1Loss-
RPL17-
-
-
-
3Gain-
RPL17-C18orf32-
-
-
-
3Gain-
RPL18A-
-
-
-
1Loss-
RPL22-
-
-
-
3Gain-
RPL22L1-
-
-
-
3Gain-
RPL24-
-
-
-
3Gain-
RPL26-
-
-
-
1Loss-
RPL32-
-
-
-
1Loss-
RPL35A-
-
-
-
3Gain-
RPL36-
-
-
-
1Loss-
RPL37-
-
-
-
3Gain-
RPL37A-
-
-
-
1Loss-
RPL39L-
-
-
-
3Gain-
RPN1-
-
-
-
3Gain-
RPP25L-
-
-
-
1Loss-
RPRD1A-
-
-
-
3Gain-
RPS15-
-
-
-
1Loss-
RPS23-
-
-
-
1Loss-
RPS25-
-
-
-
1Loss-
RPS28-
-
-
-
1Loss-
RPS3-
-
-
-
1Loss-
RPS6-
-
-
-
1Loss-
RPS6KB1-
-
-
-
3Gain-
RPUSD2-
-
-
-
3Gain-
RPUSD3-
-
-
-
1Loss-
RPUSD4-
-
-
-
1Loss-
RRAGA-
-
-
-
1Loss-
RRM1p.R21Q
Missense
SNP
0.441
2--
RRP1-
-
-
-
3Gain-
RRP1B-
-
-
-
3Gain-
RSAD1-
-
-
-
3Gain-
RSF1-
-
-
-
1Loss-
RSPH1-
-
-
-
3Gain-
RSRC1-
-
-
-
3Gain-
RTBDN-
-
-
-
1Loss-
RTF1-
-
-
-
3Gain-
RTL10-
-
-
-
3Gain-
RTN4R-
-
-
-
3Gain-
RTN4RL1-
-
-
-
1Loss-
RTP1-
-
-
-
3Gain-
RTP2-
-
-
-
3Gain-
RTP4-
-
-
-
3Gain-
RTP5-
-
-
-
1Loss-
RTTN-
-
-
-
3Gain-
RUBCN-
-
-
-
3Gain-
RUFY4-
-
-
-
1Loss-
RUNX1-
-
-
-
3Gain-
RUSC2-
-
-
-
1Loss-
RUVBL1-
-
-
-
3Gain-
RXFP3-
-
-
-
3Gain-
RYK-
-
-
-
3Gain-
RYR1p.S2798L
Missense
SNP
0.479
2--
RYR2p.G3141E
Missense
SNP
0.500
2--
RYR3-
-
-
-
3Gain-
S100B-
-
-
-
3Gain-
S100Z-
-
-
-
1Loss-
S1PR2-
-
-
-
1Loss-
S1PR4-
-
-
-
1Loss-
S1PR5-
-
-
-
1Loss-
SAFB-
-
-
-
1Loss-
SAFB2-
-
-
-
1Loss-
SAG-
-
-
-
1Loss-
SAGE1p.G422A
Missense
SNP
0.830
NDND-
SALL3-
-
-
-
3Gain-
SAMD1-
-
-
-
1Loss-
SAMD11-
-
-
-
3Gain-
SAMD14-
-
-
-
3Gain-
SAMD7-
-
-
-
3Gain-
SAR1B-
-
-
-
1Loss-
SART1p.E213D
Missense
SNP
0.412
2--
SAT2-
-
-
-
1Loss-
SATB1-
-
-
-
1Loss-
SATB2-
-
-
-
1Loss-
SAXO1-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SC5D-
-
-
-
1Loss-
SCAF4-
-
-
-
3Gain-
SCAF8p.Q154*
Nonsense
SNP
0.406
2--
SCAIp.D300N
Missense
SNP
0.327
2--
SCAMP1-
-
-
-
1Loss-
SCAMP4-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCARF2-
-
-
-
3Gain-
SCART1-
-
-
-
1Loss-
SCG2-
-
-
-
1Loss-
SCG3-
-
-
-
3Gain-
SCG5-
-
-
-
3Gain-
SCGB1C2-
-
-
-
1Loss-
SCHIP1-
-
-
-
3Gain-
SCIMP-
-
-
-
1Loss-
SCLY-
-
-
-
1Loss-
SCN2B-
-
-
-
1Loss-
SCN3B-
-
-
-
1Loss-
SCN4A-
-
-
-
3Gain-
SCN4B-
-
-
-
1Loss-
SCNN1A-
-
-
-
1Loss-
SCNN1D-
-
-
-
3Gain-
SCO1-
-
-
-
1Loss-
SCPEP1-
-
-
-
3Gain-
SCRN2-
-
-
-
3Gain-
SDF2L1-
-
-
-
3Gain-
SDF4-
-
-
-
3Gain-
SDHA-
-
-
-
3Gain-
SDHD-
-
-
-
1Loss-
SEC11C-
-
-
-
3Gain-
SEC13-
-
-
-
1Loss-
SEC22A-
-
-
-
3Gain-
SEC24A-
-
-
-
1Loss-
SEC61A1-
-
-
-
3Gain-
SEC62-
-
-
-
3Gain-
SECISBP2L-
-
-
-
3Gain-
SEH1L-
-
-
-
1Loss-
SELENOP-
-
-
-
3Gain-
SELENOT-
-
-
-
3Gain-
SEMA5A-
-
-
-
3Gain-
SEMA5B-
-
-
-
3Gain-
SEMA6A-
-
-
-
1Loss-
SEMA6B-
-
-
-
1Loss-
SEMA6D-
-
-
-
3Gain-
SENP2-
-
-
-
3Gain-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP5-
-
-
-
3Gain-
SENP7-
-
-
-
3Gain-
SEPT2-
-
-
-
1Loss-
SEPT4-
-
-
-
3Gain-
SEPT5-
-
-
-
3Gain-
SEPT5-GP1BB-
-
-
-
3Gain-
SEPT8-
-
-
-
1Loss-
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERF2-
-
-
-
3Gain-
SERINC4p.L340V
Missense
SNP
0.293
3Gain-
SERINC5-
-
-
-
1Loss-
SERP1-
-
-
-
3Gain-
SERPINB10-
-
-
-
3Gain-
SERPINB11-
-
-
-
3Gain-
SERPINB12-
-
-
-
3Gain-
SERPINB13-
-
-
-
3Gain-
SERPINB2-
-
-
-
3Gain-
SERPINB3-
-
-
-
3Gain-
SERPINB4-
-
-
-
3Gain-
SERPINB5-
-
-
-
3Gain-
SERPINB7-
-
-
-
3Gain-
SERPINB8-
-
-
-
3Gain-
SERPIND1-
-
-
-
3Gain-
SERPINE2-
-
-
-
1Loss-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERPINH1-
-
-
-
1Loss-
SERPINI1-
-
-
-
3Gain-
SERPINI2-
-
-
-
3Gain-
SESN3-
-
-
-
1Loss-
SETBP1-
-
-
-
3Gain-
SETD4-
-
-
-
3Gain-
SETD5-
-
-
-
1Loss-
SETD9-
-
-
-
1Loss-
SETMAR-
-
-
-
1Loss-
SF3A2-
-
-
-
1Loss-
SF3B1p.L639V
Missense
SNP
0.441
2--
SF3B2p.K387N
Missense
SNP
0.421
2--
SFXN4p.E35Q
Missense
SNP
0.492
2--
SGCA-
-
-
-
3Gain-
SGCZp.R213K
Missense
SNP
0.320
2--
SGO1-
-
-
-
1Loss-
SGO2-
-
-
-
1Loss-
SGPP2-
-
-
-
1Loss-
SGSM2-
-
-
-
1Loss-
SGTA-
-
-
-
1Loss-
SGTB-
-
-
-
1Loss-
SH2D3A-
-
-
-
1Loss-
SH3BGR-
-
-
-
3Gain-
SH3BP4-
-
-
-
1Loss-
SH3BP5-
-
-
-
1Loss-
SH3GL1-
-
-
-
1Loss-
SH3GL2-
-
-
-
1Loss-
SHANK2-
-
-
-
1Loss-
SHB-
-
-
-
1Loss-
SHBG-
-
-
-
1Loss-
SHC2-
-
-
-
1Loss-
SHC4-
-
-
-
3Gain-
SHD-
-
-
-
1Loss-
SHF-
-
-
-
3Gain-
SHH-
-
-
-
1Loss-
SHISA6-
-
-
-
1Loss-
SHISAL2B-
-
-
-
1Loss-
SHLD3-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHOX2-
-
-
-
3Gain-
SHPK-
-
-
-
1Loss-
SHROOM1-
-
-
-
1Loss-
SI-
-
-
-
3Gain-
SIAE-
-
-
-
1Loss-
SIAH2-
-
-
-
3Gain-
SIDT1-
-
-
-
3Gain-
SIDT2-
-
-
-
1Loss-
SIGLEC15-
-
-
-
3Gain-
SIGMAR1-
-
-
-
1Loss-
SIK1-
-
-
-
3Gain-
SIK2-
-
-
-
1Loss-
SIK3-
-
-
-
1Loss-
SIM2-
-
-
-
3Gain-
SIN3B-
-
-
-
1Loss-
SIPA1L1p.S946L
Missense
SNP
0.418
2--
SIRT6-
-
-
-
1Loss-
SIT1-
-
-
-
1Loss-
SKA1-
-
-
-
3Gain-
SKA2-
-
-
-
3Gain-
SKAP1-
-
-
-
3Gain-
SKI-
-
-
-
3Gain-
SKIL-
-
-
-
3Gain-
SKIV2L2p.L225V
Missense
SNP
0.500
NDND-
SKOR2-
-
-
-
3Gain-
SKP1-
-
-
-
1Loss-
SKP2-
-
-
-
3Gain-
SLC11A1-
-
-
-
1Loss-
SLC12A1-
-
-
-
3Gain-
SLC12A2-
-
-
-
1Loss-
SLC12A6-
-
-
-
3Gain-
SLC12A7-
-
-
-
3Gain-
SLC12A8-
-
-
-
3Gain-
SLC13A1-
-
-
-
1Loss-
SLC13A4-
-
-
-
1Loss-
SLC13A5-
-
-
-
1Loss-
SLC14A1-
-
-
-
3Gain-
SLC14A2-
-
-
-
3Gain-
SLC15A2-
-
-
-
3Gain-
SLC15A5-
-
-
-
5Amp-
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A14-
-
-
-
1Loss-
SLC16A6-
-
-
-
3Gain-
SLC19A1-
-
-
-
3Gain-
SLC19A3-
-
-
-
1Loss-
SLC1A1-
-
-
-
1Loss-
SLC1A3-
-
-
-
3Gain-
SLC1A6-
-
-
-
1Loss-
SLC22A4p.R51P
Missense
SNP
0.871
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC23A3-
-
-
-
1Loss-
SLC24A2-
-
-
-
1Loss-
SLC24A5-
-
-
-
3Gain-
SLC25A1-
-
-
-
3Gain-
SLC25A11-
-
-
-
1Loss-
SLC25A18-
-
-
-
3Gain-
SLC25A23-
-
-
-
1Loss-
SLC25A35-
-
-
-
1Loss-
SLC25A36-
-
-
-
3Gain-
SLC25A41-
-
-
-
1Loss-
SLC25A42-
-
-
-
1Loss-
SLC25A46-
-
-
-
1Loss-
SLC25A51-
-
-
-
1Loss-
SLC25A52-
-
-
-
3Gain-
SLC27A1-
-
-
-
1Loss-
SLC27A2-
-
-
-
3Gain-
SLC27A6-
-
-
-
1Loss-
SLC28A2-
-
-
-
3Gain-
SLC2A14-
-
-
-
1Loss-
SLC2A2-
-
-
-
3Gain-
SLC2A3-
-
-
-
1Loss-
SLC2A4-
-
-
-
1Loss-
SLC2A5-
-
-
-
3Gain-
SLC2A7-
-
-
-
3Gain-
SLC30A4-
-
-
-
3Gain-
SLC30A5-
-
-
-
1Loss-
SLC33A1-
-
-
-
3Gain-
SLC35A4p.S139C
Missense
SNP
0.520
2--
SLC35A5-
-
-
-
3Gain-
SLC35B1-
-
-
-
3Gain-
SLC35B4-
-
-
-
1Loss-
SLC35E1-
-
-
-
1Loss-
SLC35E2A-
-
-
-
3Gain-
SLC35E2B-
-
-
-
3Gain-
SLC35F2-
-
-
-
1Loss-
SLC35G2-
-
-
-
3Gain-
SLC35G4-
-
-
-
1Loss-
SLC35G6-
-
-
-
1Loss-
SLC36A4-
-
-
-
1Loss-
SLC37A1-
-
-
-
3Gain-
SLC37A2-
-
-
-
1Loss-
SLC37A3-
-
-
-
1Loss-
SLC37A4-
-
-
-
1Loss-
SLC39A11-
-
-
-
3Gain-
SLC39A3-
-
-
-
1Loss-
SLC39A6-
-
-
-
3Gain-
SLC41A3-
-
-
-
3Gain-
SLC43A2p.L453V
Missense
SNP
0.841
1Loss-
SLC44A2-
-
-
-
1Loss-
SLC45A1-
-
-
-
3Gain-
SLC45A2-
-
-
-
3Gain-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC4A2-
-
-
-
1Loss-
SLC4A3-
-
-
-
1Loss-
SLC4A7-
-
-
-
1Loss-
SLC51A-
-
-
-
3Gain-
SLC52A1-
-
-
-
1Loss-
SLC5A10-
-
-
-
1Loss-
SLC5A3-
-
-
-
3Gain-
SLC5A5-
-
-
-
1Loss-
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A12-
-
-
-
1Loss-
SLC6A13-
-
-
-
1Loss-
SLC6A18-
-
-
-
3Gain-
SLC6A19-
-
-
-
3Gain-
SLC6A3-
-
-
-
3Gain-
SLC6A6-
-
-
-
1Loss-
SLC7A14-
-
-
-
3Gain-
SLC7A4-
-
-
-
3Gain-
SLC9A3-
-
-
-
3Gain-
SLC9A5p.E43*
Nonsense
SNP
0.451
2--
SLC9A9-
-
-
-
3Gain-
SLC9C1p.S631C
Missense
SNP
0.299
3Gain-
SLCO1A2-
-
-
-
3Gain-
SLCO1B1-
-
-
-
3Gain-
SLCO1B3-
-
-
-
3Gain-
SLCO1B7-
-
-
-
3Gain-
SLCO1C1-
-
-
-
3Gain-
SLCO2A1-
-
-
-
3Gain-
SLCO2B1-
-
-
-
1Loss-
SLCO4C1-
-
-
-
1Loss-
SLCO6A1-
-
-
-
1Loss-
SLF1-
-
-
-
1Loss-
SLITRK3-
-
-
-
3Gain-
SLN-
-
-
-
1Loss-
SMAD2-
-
-
-
3Gain-
SMAD4-
-
-
-
3Gain-
SMAD7-
-
-
-
3Gain-
SMARCA2-
-
-
-
1Loss-
SMARCA4-
-
-
-
1Loss-
SMARCAL1-
-
-
-
1Loss-
SMARCD2-
-
-
-
3Gain-
SMARCD3-
-
-
-
1Loss-
SMC4-
-
-
-
3Gain-
SMCHD1-
-
-
-
1Loss-
SMCO1-
-
-
-
3Gain-
SMCO3-
-
-
-
5Amp-
SMCO4-
-
-
-
1Loss-
SMCR8-
-
-
-
1Loss-
SMG6-
-
-
-
1Loss-
SMG8-
-
-
-
3Gain-
SMIM1-
-
-
-
3Gain-
SMIM11A-
-
-
-
3Gain-
SMIM15-
-
-
-
1Loss-
SMIM21-
-
-
-
3Gain-
SMIM24-
-
-
-
1Loss-
SMIM27-
-
-
-
1Loss-
SMIM30-
-
-
-
1Loss-
SMIM34A-
-
-
-
3Gain-
SMIM7-
-
-
-
1Loss-
SMKR1-
-
-
-
1Loss-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMO-
-
-
-
1Loss-
SMPD4-
-
-
-
1Loss-
SMTNL2-
-
-
-
1Loss-
SMU1-
-
-
-
1Loss-
SMURF2-
-
-
-
3Gain-
SMYD4-
-
-
-
1Loss-
SNAP23-
-
-
-
3Gain-
SNAP29-
-
-
-
3Gain-
SNAPC2-
-
-
-
1Loss-
SNAPC3-
-
-
-
1Loss-
SNCAIP-
-
-
-
1Loss-
SND1-
-
-
-
1Loss-
SNED1-
-
-
-
1Loss-
SNF8-
-
-
-
3Gain-
SNORC-
-
-
-
1Loss-
SNRPD1-
-
-
-
3Gain-
SNRPN-
-
-
-
1Loss-
SNURF-
-
-
-
1Loss-
SNX11-
-
-
-
3Gain-
SNX19-
-
-
-
1Loss-
SNX2-
-
-
-
1Loss-
SNX24-
-
-
-
1Loss-
SNX4-
-
-
-
3Gain-
SOCS6-
-
-
-
3Gain-
SOD1-
-
-
-
3Gain-
SON-
-
-
-
3Gain-
SORD-
-
-
-
3Gain-
SORL1-
-
-
-
1Loss-
SOWAHA-
-
-
-
1Loss-
SOX14-
-
-
-
3Gain-
SOX15-
-
-
-
1Loss-
SOX2-
-
-
-
3Gain-
SOX9-
-
-
-
3Gain-
SP100-
-
-
-
1Loss-
SP110-
-
-
-
1Loss-
SP140-
-
-
-
1Loss-
SP140L-
-
-
-
1Loss-
SP2-
-
-
-
3Gain-
SP6-
-
-
-
3Gain-
SPA17-
-
-
-
1Loss-
SPAAR-
-
-
-
1Loss-
SPAG16-
-
-
-
1Loss-
SPAG7-
-
-
-
1Loss-
SPAG8-
-
-
-
1Loss-
SPAG9-
-
-
-
3Gain-
SPAM1-
-
-
-
1Loss-
SPATA16-
-
-
-
3Gain-
SPATA19-
-
-
-
1Loss-
SPATA20-
-
-
-
3Gain-
SPATA22-
-
-
-
1Loss-
SPATA3-
-
-
-
1Loss-
SPATA31A1-
-
-
-
1Loss-
SPATA31A3-
-
-
-
1Loss-
SPATA31A5-
-
-
-
1Loss-
SPATA31A6-
-
-
-
1Loss-
SPATA31A7-
-
-
-
1Loss-
SPATA48-
-
-
-
1Loss-
SPATA5L1-
-
-
-
3Gain-
SPATA6L-
-
-
-
1Loss-
SPATA9-
-
-
-
1Loss-
SPATC1L-
-
-
-
3Gain-
SPATS2L-
-
-
-
1Loss-
SPC24-
-
-
-
1Loss-
SPCS2-
-
-
-
1Loss-
SPDYE2-
-
-
-
1Loss-
SPDYE2B-
-
-
-
1Loss-
SPDYE4-
-
-
-
1Loss-
SPECC1-
-
-
-
1Loss-
SPEF2-
-
-
-
3Gain-
SPEG-
-
-
-
1Loss-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPENp.R1898*
Nonsense
SNP
0.967
2--
SPG11p.F1374L
Missense
SNP
0.327
3Gain-
SPHKAP-
-
-
-
1Loss-
SPICE1-
-
-
-
3Gain-
SPINK4-
-
-
-
1Loss-
SPINT1-
-
-
-
3Gain-
SPIRE1-
-
-
-
1Loss-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPOP-
-
-
-
3Gain-
SPP2-
-
-
-
1Loss-
SPPL2A-
-
-
-
3Gain-
SPPL2B-
-
-
-
1Loss-
SPRED1-
-
-
-
3Gain-
SPRN-
-
-
-
1Loss-
SPSB2-
-
-
-
1Loss-
SPSB4-
-
-
-
3Gain-
SPTBN1p.E536Q
Missense
SNP
0.331
2--
SPTBN5-
-
-
-
3Gain-
SPTSSB-
-
-
-
3Gain-
SPX-
-
-
-
3Gain-
SPZ1-
-
-
-
1Loss-
SQOR-
-
-
-
3Gain-
SRD5A1-
-
-
-
3Gain-
SREBF1-
-
-
-
1Loss-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRFBP1-
-
-
-
1Loss-
SRGAP1p.E58K
p.E68K
p.E72K
Missense
Missense
Missense
SNP
SNP
SNP
0.308
0.277
0.286
2--
SRGAP2p.I678M
Missense
SNP
0.442
2--
SRGAP2B-
-
-
-
1Loss-
SRGAP3-
-
-
-
1Loss-
SRP14-
-
-
-
3Gain-
SRP19-
-
-
-
1Loss-
SRPRA-
-
-
-
1Loss-
SRPRB-
-
-
-
3Gain-
SRR-
-
-
-
1Loss-
SRSF1-
-
-
-
3Gain-
SRSF8-
-
-
-
1Loss-
SS18-
-
-
-
3Gain-
SSBP1-
-
-
-
1Loss-
SSBP2-
-
-
-
1Loss-
SSBP4-
-
-
-
1Loss-
SSMEM1-
-
-
-
1Loss-
SSPO-
-
-
-
1Loss-
SSR3-
-
-
-
3Gain-
SST-
-
-
-
3Gain-
SSTR2-
-
-
-
3Gain-
SSU72-
-
-
-
3Gain-
SSU72P8-
-
-
-
1Loss-
SSUH2-
-
-
-
1Loss-
ST14-
-
-
-
1Loss-
ST3GAL4-
-
-
-
1Loss-
ST3GAL6-
-
-
-
3Gain-
ST6GAL1-
-
-
-
3Gain-
ST7-
-
-
-
1Loss-
ST8SIA1-
-
-
-
3Gain-
ST8SIA3-
-
-
-
3Gain-
ST8SIA4-
-
-
-
1Loss-
ST8SIA5-
-
-
-
3Gain-
STAG1-
-
-
-
3Gain-
STAP2-
-
-
-
1Loss-
STARD10-
-
-
-
1Loss-
STARD4-
-
-
-
1Loss-
STARD6-
-
-
-
3Gain-
STARD9-
-
-
-
3Gain-
STK11-
-
-
-
1Loss-
STK11IP-
-
-
-
1Loss-
STK16-
-
-
-
1Loss-
STK25-
-
-
-
1Loss-
STK36-
-
-
-
1Loss-
STMP1-
-
-
-
1Loss-
STOML2-
-
-
-
1Loss-
STRA8-
-
-
-
1Loss-
STRADA-
-
-
-
3Gain-
STRADB-
-
-
-
1Loss-
STRAP-
-
-
-
5Amp-
STRC-
-
-
-
3Gain-
STRIP2-
-
-
-
1Loss-
STT3A-
-
-
-
1Loss-
STT3B-
-
-
-
1Loss-
STX10-
-
-
-
1Loss-
STX19-
-
-
-
3Gain-
STX8-
-
-
-
1Loss-
STXBP2-
-
-
-
1Loss-
STXBP4p.G92E
Missense
SNP
0.378
3Gain-
STXBP5L-
-
-
-
3Gain-
STYK1-
-
-
-
1Loss-
SUB1-
-
-
-
3Gain-
SUCLG1p.A7S
Missense
SNP
0.413
2--
SUCNR1-
-
-
-
3Gain-
SUCOp.E1120K
Missense
SNP
0.361
2--
SUGP1-
-
-
-
1Loss-
SUGP2-
-
-
-
1Loss-
SUMF1-
-
-
-
1Loss-
SUMO1-
-
-
-
1Loss-
SUMO3-
-
-
-
3Gain-
SUN3-
-
-
-
1Loss-
SUPT4H1-
-
-
-
3Gain-
SUPT6Hp.E361Q
Missense
SNP
0.408
2--
SUSD5-
-
-
-
1Loss-
SV2C-
-
-
-
1Loss-
SVEP1p.E3214Q
Missense
SNP
0.421
2--
SVOPL-
-
-
-
1Loss-
SWSAP1-
-
-
-
1Loss-
SYCE1-
-
-
-
1Loss-
SYCE2-
-
-
-
1Loss-
SYDE1-
-
-
-
1Loss-
SYN2-
-
-
-
1Loss-
SYNJ1-
-
-
-
3Gain-
SYT4-
-
-
-
3Gain-
SYTL2-
-
-
-
1Loss-
TAC4-
-
-
-
3Gain-
TACO1-
-
-
-
3Gain-
TADA3-
-
-
-
1Loss-
TAF1D-
-
-
-
1Loss-
TAF1L-
-
-
-
1Loss-
TAF4B-
-
-
-
3Gain-
TAF9-
-
-
-
1Loss-
TAGLN-
-
-
-
1Loss-
TAGLN3-
-
-
-
3Gain-
TAMM41-
-
-
-
1Loss-
TANC2-
-
-
-
3Gain-
TANGO2-
-
-
-
3Gain-
TAPBPL-
-
-
-
1Loss-
TARBP1p.L1562V
Missense
SNP
0.426
2--
TARS-
-
-
-
3Gain-
TAS1R1-
-
-
-
3Gain-
TAS1R3-
-
-
-
3Gain-
TAS2R1-
-
-
-
3Gain-
TAS2R10-
-
-
-
1Loss-
TAS2R13-
-
-
-
1Loss-
TAS2R14-
-
-
-
1Loss-
TAS2R16-
-
-
-
1Loss-
TAS2R19-
-
-
-
1Loss-
TAS2R20-
-
-
-
1Loss-
TAS2R3-
-
-
-
1Loss-
TAS2R30-
-
-
-
1Loss-
TAS2R31-
-
-
-
1Loss-
TAS2R38-
-
-
-
1Loss-
TAS2R39-
-
-
-
1Loss-
TAS2R4-
-
-
-
1Loss-
TAS2R40-
-
-
-
1Loss-
TAS2R41-
-
-
-
1Loss-
TAS2R42-
-
-
-
1Loss-
TAS2R43-
-
-
-
1Loss-
TAS2R46-
-
-
-
1Loss-
TAS2R5-
-
-
-
1Loss-
TAS2R50-
-
-
-
1Loss-
TAS2R60-
-
-
-
1Loss-
TAS2R7-
-
-
-
1Loss-
TAS2R8-
-
-
-
1Loss-
TAS2R9-
-
-
-
1Loss-
TATDN2-
-
-
-
1Loss-
TAX1BP3-
-
-
-
1Loss-
TBC1D23-
-
-
-
3Gain-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D3-
-
-
-
1Loss-
TBC1D3C-
-
-
-
1Loss-
TBC1D3D-
-
-
-
1Loss-
TBC1D3E-
-
-
-
1Loss-
TBC1D3F-
-
-
-
1Loss-
TBC1D3G-
-
-
-
1Loss-
TBC1D3H-
-
-
-
1Loss-
TBC1D3I-
-
-
-
1Loss-
TBC1D3K-
-
-
-
1Loss-
TBC1D3L-
-
-
-
1Loss-
TBC1D5-
-
-
-
1Loss-
TBCA-
-
-
-
1Loss-
TBCCD1-
-
-
-
3Gain-
TBCDp.E1037Q
Missense
SNP
0.389
2--
TBCEL-
-
-
-
1Loss-
TBL1XR1-
-
-
-
3Gain-
TBRG1-
-
-
-
1Loss-
TBRG4-
-
-
-
1Loss-
TBX1-
-
-
-
3Gain-
TBX2-
-
-
-
3Gain-
TBX4-
-
-
-
3Gain-
TBXA2R-
-
-
-
1Loss-
TBXAS1-
-
-
-
1Loss-
TCAF1-
-
-
-
1Loss-
TCAF2-
-
-
-
1Loss-
TCF3-
-
-
-
1Loss-
TCF4-
-
-
-
3Gain-
TCF7-
-
-
-
1Loss-
TCIRG1p.L527F
Missense
SNP
0.418
2--
TCOF1p.E1141Q
Missense
SNP
0.444
2--
TCP10L-
-
-
-
3Gain-
TCTEX1D2-
-
-
-
3Gain-
TEAD4-
-
-
-
1Loss-
TECR-
-
-
-
1Loss-
TECTA-
-
-
-
1Loss-
TEK-
-
-
-
1Loss-
TEKT1-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TENM4-
-
-
-
1Loss-
TENT2-
-
-
-
1Loss-
TENT4A-
-
-
-
3Gain-
TERB2-
-
-
-
3Gain-
TERT-
-
-
-
3Gain-
TES-
-
-
-
1Loss-
TESK1-
-
-
-
1Loss-
TESMIN-
-
-
-
1Loss-
TEX12-
-
-
-
1Loss-
TEX14-
-
-
-
3Gain-
TEX2-
-
-
-
3Gain-
TEX43-
-
-
-
1Loss-
TEX44-
-
-
-
1Loss-
TEX45-
-
-
-
1Loss-
TEX52-
-
-
-
1Loss-
TF-
-
-
-
3Gain-
TFDP2-
-
-
-
3Gain-
TFEC-
-
-
-
1Loss-
TFF1-
-
-
-
3Gain-
TFF2-
-
-
-
3Gain-
TFF3-
-
-
-
3Gain-
TFG-
-
-
-
3Gain-
TFRC-
-
-
-
3Gain-
TGFBR2-
-
-
-
1Loss-
TGFBR3L-
-
-
-
1Loss-
TGIF1-
-
-
-
1Loss-
TGM5-
-
-
-
3Gain-
TGM7-
-
-
-
3Gain-
THAP12-
-
-
-
1Loss-
THAP3-
-
-
-
3Gain-
THAP4-
-
-
-
1Loss-
THAP7-
-
-
-
3Gain-
THBS1-
-
-
-
3Gain-
THBS4-
-
-
-
1Loss-
THEG-
-
-
-
1Loss-
THOC1-
-
-
-
1Loss-
THOP1-
-
-
-
1Loss-
THPO-
-
-
-
3Gain-
THRB-
-
-
-
1Loss-
THRSP-
-
-
-
1Loss-
THUMPD3-
-
-
-
1Loss-
THY1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TIAM1-
-
-
-
3Gain-
TICAM1-
-
-
-
1Loss-
TIGAR-
-
-
-
1Loss-
TIGD1-
-
-
-
1Loss-
TIGIT-
-
-
-
3Gain-
TIMM13-
-
-
-
1Loss-
TIMM21-
-
-
-
3Gain-
TIMM22-
-
-
-
1Loss-
TIMM29-
-
-
-
1Loss-
TIMM44-
-
-
-
1Loss-
TIMM8B-
-
-
-
1Loss-
TIMMDC1-
-
-
-
3Gain-
TIMP4-
-
-
-
1Loss-
TIPARP-
-
-
-
3Gain-
TIRAP-
-
-
-
1Loss-
TJP1-
-
-
-
1Loss-
TJP3-
-
-
-
1Loss-
TLCD2-
-
-
-
1Loss-
TLE2-
-
-
-
1Loss-
TLE6-
-
-
-
1Loss-
TLK2-
-
-
-
3Gain-
TLN1-
-
-
-
1Loss-
TLR1p.S738C
p.H638N
Missense
Missense
SNP
SNP
0.484
0.432
2--
TLR6p.R446T
Missense
SNP
0.472
2--
TM4SF1-
-
-
-
3Gain-
TM4SF18-
-
-
-
3Gain-
TM4SF19-
-
-
-
3Gain-
TM4SF19-TCTEX1D2-
-
-
-
3Gain-
TM4SF20-
-
-
-
1Loss-
TM4SF4-
-
-
-
3Gain-
TM4SF5-
-
-
-
1Loss-
TM6SF2-
-
-
-
1Loss-
TMBIM1-
-
-
-
1Loss-
TMCC1-
-
-
-
3Gain-
TMCO5A-
-
-
-
3Gain-
TMED1-
-
-
-
1Loss-
TMED4-
-
-
-
1Loss-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMEM100-
-
-
-
3Gain-
TMEM102-
-
-
-
1Loss-
TMEM107-
-
-
-
1Loss-
TMEM108-
-
-
-
3Gain-
TMEM11-
-
-
-
1Loss-
TMEM121B-
-
-
-
3Gain-
TMEM123-
-
-
-
1Loss-
TMEM126A-
-
-
-
1Loss-
TMEM126B-
-
-
-
1Loss-
TMEM135-
-
-
-
1Loss-
TMEM136-
-
-
-
1Loss-
TMEM139-
-
-
-
1Loss-
TMEM140-
-
-
-
1Loss-
TMEM161A-
-
-
-
1Loss-
TMEM161B-
-
-
-
1Loss-
TMEM167A-
-
-
-
1Loss-
TMEM168-
-
-
-
1Loss-
TMEM169-
-
-
-
1Loss-
TMEM171-
-
-
-
1Loss-
TMEM174-
-
-
-
1Loss-
TMEM176A-
-
-
-
1Loss-
TMEM176B-
-
-
-
1Loss-
TMEM178B-
-
-
-
1Loss-
TMEM191B-
-
-
-
3Gain-
TMEM191C-
-
-
-
3Gain-
TMEM198-
-
-
-
1Loss-
TMEM200C-
-
-
-
1Loss-
TMEM205-
-
-
-
1Loss-
TMEM207-
-
-
-
3Gain-
TMEM209-
-
-
-
1Loss-
TMEM212-
-
-
-
3Gain-
TMEM213p.*108Sext*30
Nonstop
SNP
0.847
1Loss-
TMEM215-
-
-
-
1Loss-
TMEM218-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM221-
-
-
-
1Loss-
TMEM225-
-
-
-
1Loss-
TMEM229A-
-
-
-
1Loss-
TMEM232-
-
-
-
1Loss-
TMEM237-
-
-
-
1Loss-
TMEM240-
-
-
-
3Gain-
TMEM241-
-
-
-
3Gain-
TMEM25-
-
-
-
1Loss-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM259-
-
-
-
1Loss-
TMEM267-
-
-
-
3Gain-
TMEM38A-
-
-
-
1Loss-
TMEM39A-
-
-
-
3Gain-
TMEM40-
-
-
-
1Loss-
TMEM41A-
-
-
-
3Gain-
TMEM43-
-
-
-
1Loss-
TMEM44-
-
-
-
3Gain-
TMEM45A-
-
-
-
3Gain-
TMEM45B-
-
-
-
1Loss-
TMEM50B-
-
-
-
3Gain-
TMEM52-
-
-
-
3Gain-
TMEM52B-
-
-
-
1Loss-
TMEM59L-
-
-
-
1Loss-
TMEM62-
-
-
-
3Gain-
TMEM87A-
-
-
-
3Gain-
TMEM88-
-
-
-
1Loss-
TMEM88B-
-
-
-
3Gain-
TMEM8B-
-
-
-
1Loss-
TMEM92-
-
-
-
3Gain-
TMEM95-
-
-
-
1Loss-
TMIGD2-
-
-
-
1Loss-
TMOD2-
-
-
-
3Gain-
TMOD3-
-
-
-
3Gain-
TMPPE-
-
-
-
1Loss-
TMPRSS13-
-
-
-
1Loss-
TMPRSS2-
-
-
-
3Gain-
TMPRSS3-
-
-
-
3Gain-
TMPRSS4-
-
-
-
1Loss-
TMPRSS5-
-
-
-
1Loss-
TMPRSS7-
-
-
-
3Gain-
TMPRSS9-
-
-
-
1Loss-
TMUB1-
-
-
-
1Loss-
TMX3-
-
-
-
3Gain-
TNFAIP8-
-
-
-
1Loss-
TNFAIP8L1-
-
-
-
1Loss-
TNFAIP8L3-
-
-
-
3Gain-
TNFRSF11A-
-
-
-
3Gain-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF14-
-
-
-
3Gain-
TNFRSF18-
-
-
-
3Gain-
TNFRSF1A-
-
-
-
1Loss-
TNFRSF25-
-
-
-
3Gain-
TNFRSF4-
-
-
-
3Gain-
TNFRSF9-
-
-
-
3Gain-
TNFSF10-
-
-
-
3Gain-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF14-
-
-
-
1Loss-
TNFSF9-
-
-
-
1Loss-
TNIK-
-
-
-
3Gain-
TNK1-
-
-
-
1Loss-
TNK2-
-
-
-
3Gain-
TNKSp.D314N
Missense
SNP
0.424
2--
TNP1-
-
-
-
1Loss-
TNPO1-
-
-
-
1Loss-
TNPO2-
-
-
-
1Loss-
TNPO3-
-
-
-
1Loss-
TNS1-
-
-
-
1Loss-
TNS3-
-
-
-
1Loss-
TNXB-
-
-
-
1Loss-
TOB1-
-
-
-
3Gain-
TOGARAM1-
-
-
-
1Loss-
TOM1L1-
-
-
-
3Gain-
TOM1L2-
-
-
-
1Loss-
TOMM5-
-
-
-
1Loss-
TOMM70-
-
-
-
3Gain-
TOP2B-
-
-
-
1Loss-
TOP3A-
-
-
-
1Loss-
TOPBP1-
-
-
-
3Gain-
TOPORS-
-
-
-
1Loss-
TP53-
-
-
-
1Loss-
TP53AIP1-
-
-
-
1Loss-
TP53BP1-
-
-
-
3Gain-
TP63-
-
-
-
3Gain-
TP73-
-
-
-
3Gain-
TPBGL-
-
-
-
1Loss-
TPCN2-
-
-
-
1Loss-
TPD52L3-
-
-
-
1Loss-
TPGS1-
-
-
-
1Loss-
TPGS2-
-
-
-
3Gain-
TPI1-
-
-
-
1Loss-
TPK1-
-
-
-
1Loss-
TPM2-
-
-
-
1Loss-
TPM4-
-
-
-
1Loss-
TPPP-
-
-
-
3Gain-
TPRA1-
-
-
-
3Gain-
TPRG1-
-
-
-
3Gain-
TPRG1L-
-
-
-
3Gain-
TRA2B-
-
-
-
3Gain-
TRAF3p.Q114*
Nonsense
SNP
0.667
2--
TRAF3IP1-
-
-
-
1Loss-
TRAK2-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRAPPC10-
-
-
-
3Gain-
TRAPPC13-
-
-
-
1Loss-
TRAPPC4-
-
-
-
1Loss-
TRAPPC5-
-
-
-
1Loss-
TRAPPC8-
-
-
-
3Gain-
TRARG1-
-
-
-
1Loss-
TRAT1-
-
-
-
3Gain-
TRAV1-2p.S79*
Nonsense
SNP
0.403
NDND-
TREH-
-
-
-
1Loss-
TRH-
-
-
-
3Gain-
TRHDEp.A76G
Missense
SNP
0.625
2--
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM23-
-
-
-
1Loss-
TRIM24-
-
-
-
1Loss-
TRIM25-
-
-
-
3Gain-
TRIM29-
-
-
-
1Loss-
TRIM36-
-
-
-
1Loss-
TRIM37-
-
-
-
3Gain-
TRIM42-
-
-
-
3Gain-
TRIM49p.A375E
Missense
SNP
0.269
0Del-
TRIM49C-
-
-
-
0Del-
TRIM49D1-
-
-
-
0Del-
TRIM49D2-
-
-
-
0Del-
TRIM59-
-
-
-
3Gain-
TRIM64B-
-
-
-
0Del-
TRIM69-
-
-
-
3Gain-
TRIM71-
-
-
-
1Loss-
TRIM77-
-
-
-
1Loss-
TRIO-
-
-
-
3Gain-
TRIP10-
-
-
-
1Loss-
TRIP12-
-
-
-
1Loss-
TRIP13-
-
-
-
3Gain-
TRIR-
-
-
-
1Loss-
TRMT1-
-
-
-
1Loss-
TRMT10B-
-
-
-
1Loss-
TRMT10C-
-
-
-
3Gain-
TRMT2A-
-
-
-
3Gain-
TRNT1-
-
-
-
1Loss-
TRPC1-
-
-
-
3Gain-
TRPC6-
-
-
-
1Loss-
TRPM1-
-
-
-
3Gain-
TRPM2-
-
-
-
3Gain-
TRPM7-
-
-
-
3Gain-
TRPM8-
-
-
-
1Loss-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TRPV5-
-
-
-
1Loss-
TRPV6-
-
-
-
1Loss-
TSC22D2-
-
-
-
3Gain-
TSEN2-
-
-
-
1Loss-
TSGA13-
-
-
-
1Loss-
TSHZ1-
-
-
-
3Gain-
TSHZ3p.E80K
Missense
SNP
0.438
2--
TSKU-
-
-
-
1Loss-
TSLP-
-
-
-
1Loss-
TSPAN12-
-
-
-
1Loss-
TSPAN16-
-
-
-
1Loss-
TSPAN33-
-
-
-
1Loss-
TSPAN9-
-
-
-
1Loss-
TSPEAR-
-
-
-
3Gain-
TSPOAP1-
-
-
-
3Gain-
TSR1-
-
-
-
1Loss-
TSSK1B-
-
-
-
1Loss-
TSSK2-
-
-
-
3Gain-
TSSK6-
-
-
-
1Loss-
TTBK1p.S996C
Missense
SNP
0.470
2--
TTBK2-
-
-
-
3Gain-
TTC12-
-
-
-
1Loss-
TTC14-
-
-
-
3Gain-
TTC19-
-
-
-
1Loss-
TTC23L-
-
-
-
3Gain-
TTC26-
-
-
-
1Loss-
TTC3-
-
-
-
3Gain-
TTC33-
-
-
-
3Gain-
TTC34-
-
-
-
3Gain-
TTC36-
-
-
-
1Loss-
TTC37-
-
-
-
1Loss-
TTC39B-
-
-
-
1Loss-
TTC39C-
-
-
-
3Gain-
TTLL10-
-
-
-
3Gain-
TTLL3-
-
-
-
1Loss-
TTLL4-
-
-
-
1Loss-
TTLL6-
-
-
-
3Gain-
TTNp.S35387*
p.S22172Y
p.E13423K
Nonsense
Missense
Missense
SNP
SNP
SNP
0.451
0.395
0.345
2--
TTR-
-
-
-
3Gain-
TUBA3E-
-
-
-
1Loss-
TUBA4A-
-
-
-
1Loss-
TUBA4B-
-
-
-
1Loss-
TUBA8-
-
-
-
3Gain-
TUBB4A-
-
-
-
1Loss-
TUBB6-
-
-
-
1Loss-
TUBB8P12-
-
-
-
1Loss-
TUBD1-
-
-
-
3Gain-
TUBGCP2-
-
-
-
1Loss-
TUBGCP4p.R295T
Missense
SNP
0.314
3Gain-
TUBGCP5-
-
-
-
1Loss-
TULP3-
-
-
-
1Loss-
TUSC1-
-
-
-
1Loss-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWIST2-
-
-
-
1Loss-
TWSG1-
-
-
-
1Loss-
TXNDC15-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNDC2-
-
-
-
1Loss-
TXNL1-
-
-
-
3Gain-
TXNL4A-
-
-
-
3Gain-
TXNRD2-
-
-
-
3Gain-
TXNRD3-
-
-
-
3Gain-
TYK2-
-
-
-
1Loss-
TYMS-
-
-
-
1Loss-
TYR-
-
-
-
1Loss-
TYRO3-
-
-
-
3Gain-
TYRP1-
-
-
-
1Loss-
TYW5-
-
-
-
1Loss-
U2AF1-
-
-
-
3Gain-
U2SURPp.M89I
Missense
SNP
0.306
3Gain-
UBA5-
-
-
-
3Gain-
UBA52-
-
-
-
1Loss-
UBAP1-
-
-
-
1Loss-
UBAP2-
-
-
-
1Loss-
UBASH3A-
-
-
-
3Gain-
UBASH3B-
-
-
-
1Loss-
UBB-
-
-
-
1Loss-
UBE2B-
-
-
-
1Loss-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2F-
-
-
-
1Loss-
UBE2F-SCLY-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2G2-
-
-
-
3Gain-
UBE2H-
-
-
-
1Loss-
UBE2J2-
-
-
-
3Gain-
UBE2L3-
-
-
-
3Gain-
UBE2QL1-
-
-
-
3Gain-
UBE2R2-
-
-
-
1Loss-
UBE2Z-
-
-
-
3Gain-
UBE3A-
-
-
-
1Loss-
UBE3C-
-
-
-
1Loss-
UBE4A-
-
-
-
1Loss-
UBL5-
-
-
-
1Loss-
UBN2-
-
-
-
1Loss-
UBP1-
-
-
-
1Loss-
UBR1-
-
-
-
3Gain-
UBXN6-
-
-
-
1Loss-
UBXN7-
-
-
-
3Gain-
UCP2-
-
-
-
1Loss-
UCP3-
-
-
-
1Loss-
UFD1-
-
-
-
3Gain-
UGT1A1-
-
-
-
1Loss-
UGT1A10-
-
-
-
1Loss-
UGT1A3-
-
-
-
1Loss-
UGT1A4-
-
-
-
1Loss-
UGT1A5-
-
-
-
1Loss-
UGT1A6-
-
-
-
1Loss-
UGT1A7-
-
-
-
1Loss-
UGT1A8-
-
-
-
1Loss-
UGT1A9-
-
-
-
1Loss-
UGT3A1-
-
-
-
3Gain-
UGT3A2-
-
-
-
3Gain-
UHRF1-
-
-
-
1Loss-
UHRF2-
-
-
-
1Loss-
ULK2-
-
-
-
1Loss-
UMODL1-
-
-
-
3Gain-
UMPS-
-
-
-
3Gain-
UNC13Ap.I749M
Missense
SNP
0.797
1Loss-
UNC13B-
-
-
-
1Loss-
UNC13C-
-
-
-
3Gain-
UNC45Bp.I359M
Missense
SNP
0.392
2--
UNC80-
-
-
-
1Loss-
UPF1-
-
-
-
1Loss-
UPK1B-
-
-
-
3Gain-
UPK2-
-
-
-
1Loss-
UPK3BL1-
-
-
-
1Loss-
UPP1-
-
-
-
1Loss-
UQCR11-
-
-
-
1Loss-
UQCRQ-
-
-
-
1Loss-
URB1-
-
-
-
3Gain-
UROC1-
-
-
-
3Gain-
USE1-
-
-
-
1Loss-
USF3-
-
-
-
3Gain-
USHBP1-
-
-
-
1Loss-
USP13-
-
-
-
3Gain-
USP14-
-
-
-
1Loss-
USP17L11-
-
-
-
0Del-
USP17L15-
-
-
-
0Del-
USP17L18-
-
-
-
0Del-
USP17L24-
-
-
-
0Del-
USP17L25-
-
-
-
0Del-
USP17L26-
-
-
-
0Del-
USP17L27-
-
-
-
0Del-
USP17L28-
-
-
-
0Del-
USP17L29-
-
-
-
0Del-
USP17L30-
-
-
-
0Del-
USP17L5-
-
-
-
0Del-
USP18-
-
-
-
3Gain-
USP2-
-
-
-
1Loss-
USP22-
-
-
-
1Loss-
USP28-
-
-
-
1Loss-
USP32-
-
-
-
3Gain-
USP35-
-
-
-
1Loss-
USP37-
-
-
-
1Loss-
USP40p.L658F
Missense
SNP
0.866
1Loss-
USP41-
-
-
-
3Gain-
USP43-
-
-
-
1Loss-
USP5-
-
-
-
1Loss-
USP50-
-
-
-
3Gain-
USP6-
-
-
-
1Loss-
USP6NLp.D55N
Missense
SNP
0.351
2--
USP8-
-
-
-
3Gain-
UTF1-
-
-
-
1Loss-
UTP15-
-
-
-
1Loss-
UTP18-
-
-
-
3Gain-
UTS2-
-
-
-
3Gain-
UTS2B-
-
-
-
3Gain-
UTYp.R377K
Missense
SNP
1.000
NDND-
UVRAG-
-
-
-
1Loss-
VAMP1-
-
-
-
1Loss-
VAMP2-
-
-
-
1Loss-
VAMP3-
-
-
-
3Gain-
VAPA-
-
-
-
1Loss-
VAV1p.E95K
Missense
SNP
0.770
1Loss-
VCAN-
-
-
-
1Loss-
VCP-
-
-
-
1Loss-
VDAC1-
-
-
-
1Loss-
VENTX-
-
-
-
1Loss-
VEPH1-
-
-
-
3Gain-
VEZF1-
-
-
-
3Gain-
VGLL4-
-
-
-
1Loss-
VHL-
-
-
-
1Loss-
VIL1-
-
-
-
1Loss-
VIPR2-
-
-
-
1Loss-
VLDLR-
-
-
-
1Loss-
VMAC-
-
-
-
1Loss-
VMO1-
-
-
-
1Loss-
VMP1-
-
-
-
3Gain-
VPS11-
-
-
-
1Loss-
VPS18-
-
-
-
3Gain-
VPS26B-
-
-
-
1Loss-
VPS26C-
-
-
-
3Gain-
VPS39-
-
-
-
3Gain-
VPS4B-
-
-
-
3Gain-
VPS53-
-
-
-
1Loss-
VPS54p.L809V
Missense
SNP
0.470
2--
VPS8-
-
-
-
3Gain-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSTM2A-
-
-
-
1Loss-
VSTM5-
-
-
-
1Loss-
VWA1-
-
-
-
3Gain-
VWA5A-
-
-
-
1Loss-
VWA5B2-
-
-
-
3Gain-
VWC2-
-
-
-
1Loss-
VWC2L-
-
-
-
1Loss-
VWF-
-
-
-
1Loss-
WASL-
-
-
-
1Loss-
WBP11-
-
-
-
5Amp-
WDFY1-
-
-
-
1Loss-
WDFY4p.F641L
Missense
SNP
0.436
2--
WDHD1p.S917L
Missense
SNP
0.402
2--
WDR12-
-
-
-
1Loss-
WDR18-
-
-
-
1Loss-
WDR36-
-
-
-
1Loss-
WDR4-
-
-
-
3Gain-
WDR41-
-
-
-
1Loss-
WDR49-
-
-
-
3Gain-
WDR53-
-
-
-
3Gain-
WDR5B-
-
-
-
3Gain-
WDR60-
-
-
-
1Loss-
WDR7-
-
-
-
3Gain-
WDR70-
-
-
-
3Gain-
WDR72-
-
-
-
3Gain-
WDR76-
-
-
-
3Gain-
WDR81-
-
-
-
1Loss-
WDR83-
-
-
-
1Loss-
WDR83OS-
-
-
-
1Loss-
WDR86-
-
-
-
1Loss-
WDR91-
-
-
-
1Loss-
WEE2-
-
-
-
1Loss-
WFIKKN2-
-
-
-
3Gain-
WHSC1p.L697F
Missense
SNP
0.474
NDND-
WIPI1-
-
-
-
3Gain-
WIZ-
-
-
-
1Loss-
WNK1-
-
-
-
1Loss-
WNT10A-
-
-
-
1Loss-
WNT11-
-
-
-
1Loss-
WNT16-
-
-
-
1Loss-
WNT2-
-
-
-
1Loss-
WNT5B-
-
-
-
1Loss-
WNT6-
-
-
-
1Loss-
WNT7A-
-
-
-
1Loss-
WRAP53-
-
-
-
1Loss-
WRAP73-
-
-
-
3Gain-
WRB-
-
-
-
3Gain-
WRB-SH3BGR-
-
-
-
3Gain-
WSCD1-
-
-
-
1Loss-
WWTR1-
-
-
-
3Gain-
XAB2-
-
-
-
1Loss-
XAF1-
-
-
-
1Loss-
XKR3-
-
-
-
3Gain-
XPC-
-
-
-
1Loss-
XPR1p.R502Q
Missense
SNP
0.343
2--
XRCC2-
-
-
-
1Loss-
XRCC4-
-
-
-
1Loss-
XRCC5-
-
-
-
1Loss-
XRN1-
-
-
-
3Gain-
XRRA1-
-
-
-
1Loss-
XXYLT1-
-
-
-
3Gain-
XYLT2-
-
-
-
3Gain-
YAP1-
-
-
-
1Loss-
YBEY-
-
-
-
3Gain-
YBX2-
-
-
-
1Loss-
YBX3-
-
-
-
1Loss-
YDJC-
-
-
-
3Gain-
YEATS2p.E162Q
Missense
SNP
0.301
3Gain-
YES1-
-
-
-
1Loss-
YIPF2-
-
-
-
1Loss-
YJEFN3-
-
-
-
1Loss-
YJU2-
-
-
-
1Loss-
YPEL2-
-
-
-
3Gain-
YTHDC1p.R719Q
Missense
SNP
0.438
2--
YTHDC2-
-
-
-
1Loss-
YWHAE-
-
-
-
1Loss-
ZADH2-
-
-
-
3Gain-
ZBBX-
-
-
-
3Gain-
ZBED2-
-
-
-
3Gain-
ZBED3-
-
-
-
1Loss-
ZBED6CL-
-
-
-
1Loss-
ZBTB11-
-
-
-
3Gain-
ZBTB14-
-
-
-
1Loss-
ZBTB16-
-
-
-
1Loss-
ZBTB20-
-
-
-
3Gain-
ZBTB21-
-
-
-
3Gain-
ZBTB38-
-
-
-
3Gain-
ZBTB4-
-
-
-
1Loss-
ZBTB44-
-
-
-
1Loss-
ZBTB48-
-
-
-
3Gain-
ZBTB5-
-
-
-
1Loss-
ZBTB7A-
-
-
-
1Loss-
ZBTB7C-
-
-
-
3Gain-
ZC3H12C-
-
-
-
1Loss-
ZC3H18p.E401K
Missense
SNP
0.400
2--
ZC3HAV1-
-
-
-
1Loss-
ZC3HAV1L-
-
-
-
1Loss-
ZC3HC1-
-
-
-
1Loss-
ZCCHC10-
-
-
-
1Loss-
ZCCHC2-
-
-
-
3Gain-
ZCCHC4p.R104Q
Missense
SNP
0.416
2--
ZCCHC7-
-
-
-
1Loss-
ZCCHC9-
-
-
-
1Loss-
ZCWPW2-
-
-
-
1Loss-
ZDBF2-
-
-
-
1Loss-
ZDHHC11-
-
-
-
3Gain-
ZDHHC11B-
-
-
-
3Gain-
ZDHHC13p.D255H
Missense
SNP
0.458
2--
ZDHHC19-
-
-
-
3Gain-
ZDHHC21-
-
-
-
1Loss-
ZDHHC23-
-
-
-
3Gain-
ZDHHC8-
-
-
-
3Gain-
ZFAND2B-
-
-
-
1Loss-
ZFP14-
-
-
-
1Loss-
ZFP3-
-
-
-
1Loss-
ZFP30-
-
-
-
1Loss-
ZFP36p.R167C
Missense
SNP
0.479
2--
ZFP64p.S591L
Missense
SNP
0.451
2--
ZFP82-
-
-
-
1Loss-
ZFR-
-
-
-
3Gain-
ZFR2-
-
-
-
1Loss-
ZFYVE16-
-
-
-
1Loss-
ZFYVE19-
-
-
-
3Gain-
ZGLP1-
-
-
-
1Loss-
ZHX1p.D801H
Missense
SNP
0.440
2--
ZIC1-
-
-
-
3Gain-
ZIC4-
-
-
-
3Gain-
ZKSCAN7-
-
-
-
1Loss-
ZMAT3-
-
-
-
3Gain-
ZMIZ2-
-
-
-
1Loss-
ZMYND15-
-
-
-
1Loss-
ZNF100-
-
-
-
1Loss-
ZNF101-
-
-
-
1Loss-
ZNF106-
-
-
-
3Gain-
ZNF121-
-
-
-
1Loss-
ZNF131-
-
-
-
3Gain-
ZNF136-
-
-
-
1Loss-
ZNF14-
-
-
-
1Loss-
ZNF142-
-
-
-
1Loss-
ZNF143p.E209Q
Missense
SNP
0.353
2--
ZNF146-
-
-
-
1Loss-
ZNF148-
-
-
-
3Gain-
ZNF177-
-
-
-
1Loss-
ZNF18-
-
-
-
1Loss-
ZNF197-
-
-
-
1Loss-
ZNF20-
-
-
-
1Loss-
ZNF202-
-
-
-
1Loss-
ZNF208-
-
-
-
1Loss-
ZNF212-
-
-
-
1Loss-
ZNF23p.Q635H
Missense
SNP
0.384
2--
ZNF232-
-
-
-
1Loss-
ZNF236-
-
-
-
3Gain-
ZNF24-
-
-
-
3Gain-
ZNF253-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF260-
-
-
-
1Loss-
ZNF266-
-
-
-
1Loss-
ZNF277-
-
-
-
1Loss-
ZNF282-
-
-
-
1Loss-
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF317-
-
-
-
1Loss-
ZNF333-
-
-
-
1Loss-
ZNF345-
-
-
-
1Loss-
ZNF35-
-
-
-
1Loss-
ZNF358-
-
-
-
1Loss-
ZNF366-
-
-
-
1Loss-
ZNF382-
-
-
-
1Loss-
ZNF383-
-
-
-
1Loss-
ZNF384-
-
-
-
1Loss-
ZNF385D-
-
-
-
1Loss-
ZNF394p.E472K
Missense
SNP
0.351
2--
ZNF396-
-
-
-
3Gain-
ZNF397-
-
-
-
3Gain-
ZNF398-
-
-
-
1Loss-
ZNF407-
-
-
-
3Gain-
ZNF414-
-
-
-
1Loss-
ZNF420-
-
-
-
1Loss-
ZNF425-
-
-
-
1Loss-
ZNF426-
-
-
-
1Loss-
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF433-
-
-
-
1Loss-
ZNF439-
-
-
-
1Loss-
ZNF44-
-
-
-
1Loss-
ZNF440-
-
-
-
1Loss-
ZNF441-
-
-
-
1Loss-
ZNF442-
-
-
-
1Loss-
ZNF443-
-
-
-
1Loss-
ZNF445-
-
-
-
1Loss-
ZNF45p.G412A
Missense
SNP
0.435
2--
ZNF461-
-
-
-
1Loss-
ZNF462p.R616K
p.D723H
p.E767*
Missense
Missense
Nonsense
SNP
SNP
SNP
0.464
0.418
0.433
2--
ZNF467-
-
-
-
1Loss-
ZNF474-
-
-
-
1Loss-
ZNF486-
-
-
-
1Loss-
ZNF490-
-
-
-
1Loss-
ZNF491-
-
-
-
1Loss-
ZNF492-
-
-
-
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF506-
-
-
-
1Loss-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF516-
-
-
-
3Gain-
ZNF519-
-
-
-
1Loss-
ZNF521-
-
-
-
3Gain-
ZNF527-
-
-
-
1Loss-
ZNF529-
-
-
-
1Loss-
ZNF532-
-
-
-
3Gain-
ZNF540-
-
-
-
1Loss-
ZNF554-
-
-
-
1Loss-
ZNF555-
-
-
-
1Loss-
ZNF556-
-
-
-
1Loss-
ZNF557-
-
-
-
1Loss-
ZNF558-
-
-
-
1Loss-
ZNF559-
-
-
-
1Loss-
ZNF559-ZNF177-
-
-
-
1Loss-
ZNF560-
-
-
-
1Loss-
ZNF561-
-
-
-
1Loss-
ZNF562-
-
-
-
1Loss-
ZNF563-
-
-
-
1Loss-
ZNF564-
-
-
-
1Loss-
ZNF565-
-
-
-
1Loss-
ZNF566-
-
-
-
1Loss-
ZNF567-
-
-
-
1Loss-
ZNF568-
-
-
-
1Loss-
ZNF569-
-
-
-
1Loss-
ZNF57-
-
-
-
1Loss-
ZNF570-
-
-
-
1Loss-
ZNF571-
-
-
-
1Loss-
ZNF573-
-
-
-
1Loss-
ZNF585A-
-
-
-
1Loss-
ZNF585B-
-
-
-
1Loss-
ZNF587p.G322R
Missense
SNP
0.087
2--
ZNF594-
-
-
-
1Loss-
ZNF607-
-
-
-
1Loss-
ZNF608-
-
-
-
1Loss-
ZNF622-
-
-
-
3Gain-
ZNF624-
-
-
-
1Loss-
ZNF625-
-
-
-
1Loss-
ZNF625-ZNF20-
-
-
-
1Loss-
ZNF626-
-
-
-
1Loss-
ZNF627-
-
-
-
1Loss-
ZNF639-
-
-
-
3Gain-
ZNF652-
-
-
-
3Gain-
ZNF653-
-
-
-
1Loss-
ZNF658-
-
-
-
1Loss-
ZNF66-
-
-
-
1Loss-
ZNF660-
-
-
-
1Loss-
ZNF674p.Q299*
p.L295V
Nonsense
Missense
SNP
SNP
0.783
0.783
NDND-
ZNF675-
-
-
-
1Loss-
ZNF676-
-
-
-
1Loss-
ZNF681-
-
-
-
1Loss-
ZNF682-
-
-
-
1Loss-
ZNF69-
-
-
-
1Loss-
ZNF699-
-
-
-
1Loss-
ZNF700-
-
-
-
1Loss-
ZNF708-
-
-
-
1Loss-
ZNF709-
-
-
-
1Loss-
ZNF714-
-
-
-
1Loss-
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF726-
-
-
-
1Loss-
ZNF728-
-
-
-
1Loss-
ZNF729-
-
-
-
1Loss-
ZNF730-
-
-
-
1Loss-
ZNF737-
-
-
-
1Loss-
ZNF738-
-
-
-
1Loss-
ZNF74-
-
-
-
3Gain-
ZNF746-
-
-
-
1Loss-
ZNF750p.E217Vfs*4
Frame_Shift_Del
DEL
0.835
2--
ZNF763-
-
-
-
1Loss-
ZNF77-
-
-
-
1Loss-
ZNF770-
-
-
-
3Gain-
ZNF775-
-
-
-
1Loss-
ZNF777-
-
-
-
1Loss-
ZNF781-
-
-
-
1Loss-
ZNF783-
-
-
-
1Loss-
ZNF786-
-
-
-
1Loss-
ZNF790-
-
-
-
1Loss-
ZNF791-
-
-
-
1Loss-
ZNF793-
-
-
-
1Loss-
ZNF799-
-
-
-
1Loss-
ZNF80-
-
-
-
3Gain-
ZNF800-
-
-
-
1Loss-
ZNF823-
-
-
-
1Loss-
ZNF829-
-
-
-
1Loss-
ZNF844-
-
-
-
1Loss-
ZNF846-
-
-
-
1Loss-
ZNF85-
-
-
-
1Loss-
ZNF850-
-
-
-
1Loss-
ZNF852-
-
-
-
1Loss-
ZNF860-
-
-
-
1Loss-
ZNF862-
-
-
-
1Loss-
ZNF878-
-
-
-
1Loss-
ZNF90-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF93-
-
-
-
1Loss-
ZNF98-
-
-
-
1Loss-
ZNF99-
-
-
-
1Loss-
ZNRF4-
-
-
-
1Loss-
ZP2p.H589Y
Missense
SNP
0.247
2--
ZPBP-
-
-
-
1Loss-
ZPLD1-
-
-
-
3Gain-
ZPR1-
-
-
-
1Loss-
ZSCAN29-
-
-
-
3Gain-
ZSCAN30-
-
-
-
3Gain-
ZSWIM4-
-
-
-
1Loss-
ZSWIM6-
-
-
-
1Loss-
ZSWIM7-
-
-
-
1Loss-
ZW10-
-
-
-
1Loss-
ZXDC-
-
-
-
3Gain-
ZYX-
-
-
-
1Loss-
ZZEF1-
-
-
-
1Loss-