PDMR-451658~271-R~E12H76-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A3GALT2-
-
-
-
1Loss-
AACS-
-
-
-
1Loss-
AADACL3-
-
-
-
1Loss-
AADACL4-
-
-
-
1Loss-
AAGAB-
-
-
-
1Loss-
AAR2-
-
-
-
3Gain-
AARD-
-
-
-
3Gain-
AASDHPPT-
-
-
-
1Loss-
ABCA4-
-
-
-
1Loss-
ABCB9-
-
-
-
1Loss-
ABCC4-
-
-
-
3Gain-
ABCD3-
-
-
-
1Loss-
ABCG4-
-
-
-
1Loss-
ABHD12-
-
-
-
3Gain-
ABHD13-
-
-
-
3Gain-
ABHD16B-
-
-
-
3Gain-
ABHD17C-
-
-
-
1Loss-
ABHD2-
-
-
-
1Loss-
ABHD3-
-
-
-
1Loss-
ABR-
-
-
-
1Loss-
ABRA-
-
-
-
3Gain-
AC001226.2-
-
-
-
3Gain-
AC002996.1-
-
-
-
1Loss-
AC003688.1-
-
-
-
1Loss-
AC007846.2-
-
-
-
1Loss-
AC007998.2-
-
-
-
1Loss-
AC008575.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC008695.1-
-
-
-
1Loss-
AC009690.1-
-
-
-
1Loss-
AC009690.3-
-
-
-
1Loss-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC010255.3-
-
-
-
1Loss-
AC011330.3-
-
-
-
1Loss-
AC012213.5-
-
-
-
3Gain-
AC012254.2-
-
-
-
1Loss-
AC012476.1-
-
-
-
1Loss-
AC012651.1-
-
-
-
1Loss-
AC013394.1-
-
-
-
1Loss-
AC013489.1-
-
-
-
1Loss-
AC018362.3-
-
-
-
1Loss-
AC018512.1-
-
-
-
1Loss-
AC022414.1-
-
-
-
1Loss-
AC022826.2-
-
-
-
3Gain-
AC025263.2-
-
-
-
9Amp-
AC026398.1-
-
-
-
1Loss-
AC026786.1-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC036214.3-
-
-
-
3Gain-
AC037459.1-
-
-
-
0Del-
AC048338.1-
-
-
-
1Loss-
AC068831.7-
-
-
-
1Loss-
AC069368.1-
-
-
-
1Loss-
AC069503.2-
-
-
-
1Loss-
AC073612.1-
-
-
-
6Amp-
AC078927.1-
-
-
-
15Amp-
AC087632.1-
-
-
-
1Loss-
AC087721.2-
-
-
-
1Loss-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC090517.4-
-
-
-
1Loss-
AC090527.2-
-
-
-
1Loss-
AC091057.6-
-
-
-
1Loss-
AC091167.2-
-
-
-
1Loss-
AC091167.6-
-
-
-
1Loss-
AC091167.7-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC093155.3-
-
-
-
1Loss-
AC093423.3-
-
-
-
1Loss-
AC093512.2-
-
-
-
2-AC093512.2--EEF1A1
AC098484.3-
-
-
-
1Loss-
AC100868.1-
-
-
-
3Gain-
AC104109.3-
-
-
-
1Loss-
AC107871.1-
-
-
-
1Loss-
AC107959.5-
-
-
-
0Del-
AC114490.2-
-
-
-
1Loss-
AC114490.3-
-
-
-
1Loss-
AC116366.3-
-
-
-
1Loss-
AC118549.1-
-
-
-
1Loss-
AC118553.2-
-
-
-
1Loss-
AC119674.2-
-
-
-
1Loss-
AC120057.2-
-
-
-
1Loss-
AC124312.1-
-
-
-
1Loss-
AC135068.1-
-
-
-
1Loss-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC245033.1-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACACB-
-
-
-
1Loss-
ACAD10-
-
-
-
1Loss-
ACAD8-
-
-
-
1Loss-
ACADM-
-
-
-
1Loss-
ACADS-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAN-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACAP3-
-
-
-
1Loss-
ACAT1-
-
-
-
1Loss-
ACO1-
-
-
-
3Gain-
ACOD1-
-
-
-
3Gain-
ACOT11-
-
-
-
1Loss-
ACOT12-
-
-
-
1Loss-
ACOT7-
-
-
-
1Loss-
ACOT8-
-
-
-
3Gain-
ACRV1-
-
-
-
1Loss-
ACSBG1-
-
-
-
1Loss-
ACSL6-
-
-
-
1Loss-
ACSS1-
-
-
-
3Gain-
ACSS2-
-
-
-
3Gain-
ACSS3-
-
-
-
1Loss-
ACTBL2-
-
-
-
1Loss-
ACTC1-
-
-
-
1Loss-
ACTL10-
-
-
-
3Gain-
ACTL8-
-
-
-
1Loss-
ACTR5-
-
-
-
3Gain-
ACTR6-
-
-
-
1Loss-
ACTRT2-
-
-
-
1Loss-
ADA-
-
-
-
3Gain-
ADAL-
-
-
-
1Loss-
ADAM10-
-
-
-
1Loss-
ADAM28-
-
-
-
0Del-
ADAM30-
-
-
-
1Loss-
ADAM33-
-
-
-
3Gain-
ADAM7-
-
-
-
0Del-
ADAMDEC1-
-
-
-
0Del-
ADAMTS15-
-
-
-
1Loss-
ADAMTS17-
-
-
-
1Loss-
ADAMTS19-
-
-
-
1Loss-
ADAMTS6-
-
-
-
1Loss-
ADAMTS7-
-
-
-
1Loss-
ADAMTS8-
-
-
-
1Loss-
ADAMTSL3-
-
-
-
1Loss-
ADCK5-
-
-
-
3Gain-
ADCY8-
-
-
-
3Gain-
ADCYAP1-
-
-
-
0Del-
ADGRB1-
-
-
-
3Gain-
ADGRB2-
-
-
-
1Loss-
ADGRD1-
-
-
-
1Loss-
ADGRL2-
-
-
-
1Loss-
ADGRL4-
-
-
-
1Loss-
ADGRV1-
-
-
-
1Loss-
ADHFE1-
-
-
-
3Gain-
ADIG-
-
-
-
3Gain-
ADNP-
-
-
-
3Gain-
ADNP2-
-
-
-
1Loss-
ADORA3-
-
-
-
1Loss-
ADPGK-
-
-
-
1Loss-
ADPRHL1-
-
-
-
3Gain-
ADPRHL2-
-
-
-
1Loss-
ADRA1A-
-
-
-
0Del-
ADRA1D-
-
-
-
3Gain-
ADRM1-
-
-
-
3Gain-
AEN-
-
-
-
1Loss-
AFF4-
-
-
-
1Loss-
AFG3L2-
-
-
-
1Loss-
AGBL1-
-
-
-
1Loss-
AGBL4-
-
-
-
1Loss-
AGGF1-
-
-
-
1Loss-
AGL-
-
-
-
1Loss-
AGMAT-
-
-
-
1Loss-
AGO1-
-
-
-
1Loss-
AGO2-
-
-
-
3Gain-
AGO3-
-
-
-
1Loss-
AGO4-
-
-
-
1Loss-
AGPAT5-
-
-
-
0Del-
AGRN-
-
-
-
1Loss-
AGTRAP-
-
-
-
1Loss-
AHCY-
-
-
-
3Gain-
AHCYL1-
-
-
-
1Loss-
AHDC1-
-
-
-
1Loss-
AIPL1-
-
-
-
1Loss-
AJAP1-
-
-
-
1Loss-
AK2-
-
-
-
1Loss-
AK3-
-
-
-
3Gain-
AK4-
-
-
-
1Loss-
AK5-
-
-
-
1Loss-
AK6-
-
-
-
1Loss-
AKAIN1-
-
-
-
0Del-
AKAP11-
-
-
-
3Gain-
AKAP13-
-
-
-
1Loss-
AKIRIN1-
-
-
-
1Loss-
AKNAD1-
-
-
-
1Loss-
AKR1A1-
-
-
-
1Loss-
AKR7A2-
-
-
-
1Loss-
AKR7A3-
-
-
-
1Loss-
AKR7L-
-
-
-
1Loss-
AL020996.2-
-
-
-
1Loss-
AL021546.1-
-
-
-
1Loss-
AL031281.2-
-
-
-
1Loss-
AL033529.1-
-
-
-
1Loss-
AL035460.1-
-
-
-
3Gain-
AL049557.1-
-
-
-
1Loss-
AL049634.2-
-
-
-
3Gain-
AL049650.1-
-
-
-
3Gain-
AL080251.1-
-
-
-
1Loss-
AL109811.4-
-
-
-
1Loss-
AL109827.1-
-
-
-
3Gain-
AL121722.1-
-
-
-
3Gain-
AL121753.1-
-
-
-
3Gain-
AL121758.1-
-
-
-
3Gain-
AL121845.2-
-
-
-
3Gain-
AL121845.3-
-
-
-
3Gain-
AL121900.2-
-
-
-
3Gain-
AL136531.2-
-
-
-
3Gain-
AL139099.4-
-
-
-
NDNDCEACAM5--AL139099.4
AL162231.1-
-
-
-
3Gain-
AL162231.3-
-
-
-
3Gain-
AL162377.3-
-
-
-
3Gain-
AL357673.1-
-
-
-
1Loss-
AL358075.4-
-
-
-
1Loss-
AL359736.1-
-
-
-
3Gain-
AL365232.1-
-
-
-
3Gain-
AL445685.3-
-
-
-
1Loss-
AL449266.1-
-
-
-
1Loss-
AL451062.3-
-
-
-
1Loss-
AL512506.3-
-
-
-
3Gain-
AL592490.1-
-
-
-
3Gain-
AL603832.3-
-
-
-
1Loss-
AL672043.1-
-
-
-
1Loss-
ALDH1A2-
-
-
-
1Loss-
ALDH1A3-
-
-
-
1Loss-
ALDH1L2-
-
-
-
1Loss-
ALDH2-
-
-
-
1Loss-
ALDH4A1-
-
-
-
1Loss-
ALDH7A1-
-
-
-
1Loss-
ALG11-
-
-
-
3Gain-
ALG14-
-
-
-
1Loss-
ALG5-
-
-
-
3Gain-
ALG6-
-
-
-
1Loss-
ALG9-
-
-
-
1Loss-
ALKAL1-
-
-
-
3Gain-
ALKBH2-
-
-
-
1Loss-
ALKBH8-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX5AP-
-
-
-
3Gain-
ALPK2-
-
-
-
1Loss-
ALPK3-
-
-
-
1Loss-
ALPL-
-
-
-
1Loss-
ALX1-
-
-
-
1Loss-
ALX3-
-
-
-
1Loss-
AMDHD1-
-
-
-
1Loss-
AMER2-
-
-
-
3Gain-
AMIGO1-
-
-
-
1Loss-
AMOTL1-
-
-
-
7Amp-
AMPD1-
-
-
-
1Loss-
AMPD2-
-
-
-
1Loss-
AMY1A-
-
-
-
1Loss-
AMY1B-
-
-
-
1Loss-
AMY1C-
-
-
-
1Loss-
AMY2A-
-
-
-
1Loss-
AMY2B-
-
-
-
1Loss-
ANAPC5-
-
-
-
1Loss-
ANAPC7-
-
-
-
1Loss-
ANGPT1-
-
-
-
3Gain-
ANGPT2-
-
-
-
0Del-
ANGPT4-
-
-
-
3Gain-
ANGPTL3-
-
-
-
1Loss-
ANGPTL5-
-
-
-
19Amp-
ANGPTL7-
-
-
-
1Loss-
ANHX-
-
-
-
1Loss-
ANKDD1A-
-
-
-
1Loss-
ANKDD1B-
-
-
-
1Loss-
ANKEF1-
-
-
-
3Gain-
ANKFY1-
-
-
-
1Loss-
ANKK1-
-
-
-
1Loss-
ANKLE2-
-
-
-
1Loss-
ANKRA2-
-
-
-
1Loss-
ANKRD10-
-
-
-
3Gain-
ANKRD12-
-
-
-
1Loss-
ANKRD13A-
-
-
-
1Loss-
ANKRD13C-
-
-
-
1Loss-
ANKRD18B-
-
-
-
3Gain-
ANKRD29-
-
-
-
1Loss-
ANKRD30B-
-
-
-
1Loss-
ANKRD31-
-
-
-
1Loss-
ANKRD34B-
-
-
-
1Loss-
ANKRD34C-
-
-
-
1Loss-
ANKRD46-
-
-
-
3Gain-
ANKRD49-
-
-
-
7Amp-
ANKRD55-
-
-
-
1Loss-
ANKRD60-
-
-
-
3Gain-
ANKRD62-
-
-
-
1Loss-
ANKRD63-
-
-
-
1Loss-
ANKRD65-
-
-
-
1Loss-
ANKS1B-
-
-
-
1Loss-
ANO4-
-
-
-
1Loss-
ANP32A-
-
-
-
1Loss-
ANPEP-
-
-
-
1Loss-
ANXA13-
-
-
-
3Gain-
ANXA2-
-
-
-
1Loss-
AP000646.1-
-
-
-
1Loss-
AP001267.5-
-
-
-
1Loss-
AP001273.2-
-
-
-
7Amp-
AP001781.2-
-
-
-
1Loss-
AP002373.1-
-
-
-
1Loss-
AP002884.3-
-
-
-
1Loss-
AP3B1-
-
-
-
1Loss-
AP3B2-
-
-
-
1Loss-
AP3S1-
-
-
-
1Loss-
AP3S2-
-
-
-
1Loss-
AP4B1-
-
-
-
1Loss-
AP4E1-
-
-
-
1Loss-
AP5S1-
-
-
-
3Gain-
APAF1-
-
-
-
1Loss-
APBA2-
-
-
-
1Loss-
APCp.R216*
Nonsense
SNP
1.000
1Loss-
APCDD1-
-
-
-
1Loss-
APCDD1L-
-
-
-
3Gain-
APH1B-
-
-
-
1Loss-
APLP2-
-
-
-
1Loss-
APMAP-
-
-
-
3Gain-
APOA1-
-
-
-
1Loss-
APOA4-
-
-
-
1Loss-
APOA5-
-
-
-
1Loss-
APOC3-
-
-
-
1Loss-
APPL2-
-
-
-
1Loss-
APTX-
-
-
-
3Gain-
AQP3-
-
-
-
3Gain-
AQP4-
-
-
-
1Loss-
AQP7p.A126V
Missense
SNP
0.493
3Gain-
AQP9-
-
-
-
1Loss-
AQR-
-
-
-
1Loss-
ARC-
-
-
-
3Gain-
ARCN1-
-
-
-
1Loss-
ARFGAP1-
-
-
-
3Gain-
ARFGEF1-
-
-
-
3Gain-
ARFGEF2-
-
-
-
3Gain-
ARFRP1-
-
-
-
3Gain-
ARGLU1-
-
-
-
3Gain-
ARHGAP11A-
-
-
-
1Loss-
ARHGAP11B-
-
-
-
1Loss-
ARHGAP20-
-
-
-
1Loss-
ARHGAP28-
-
-
-
1Loss-
ARHGAP29-
-
-
-
1Loss-
ARHGAP32-
-
-
-
1Loss-
ARHGAP39-
-
-
-
3Gain-
ARHGAP40-
-
-
-
3Gain-
ARHGAP42-
-
-
-
25Amp-
ARHGEF10-
-
-
-
0Del-
ARHGEF10L-
-
-
-
1Loss-
ARHGEF12-
-
-
-
1Loss-
ARHGEF16-
-
-
-
1Loss-
ARHGEF19-
-
-
-
1Loss-
ARHGEF28-
-
-
-
1Loss-
ARHGEF39-
-
-
-
3Gain-
ARHGEF7-
-
-
-
3Gain-
ARID1A-
-
-
-
1Loss-
ARID3B-
-
-
-
1Loss-
ARID3C-
-
-
-
3Gain-
ARIH1-
-
-
-
1Loss-
ARL1-
-
-
-
1Loss-
ARL11-
-
-
-
3Gain-
ARL14EPL-
-
-
-
1Loss-
ARL15-
-
-
-
1Loss-
ARL6IP4-
-
-
-
1Loss-
ARMC1-
-
-
-
3Gain-
ARMH1-
-
-
-
1Loss-
ARNT2-
-
-
-
1Loss-
ARPC3-
-
-
-
1Loss-
ARPIN-
-
-
-
1Loss-
ARPP19-
-
-
-
1Loss-
ARRB2-
-
-
-
1Loss-
ARRDC3-
-
-
-
1Loss-
ARRDC4-
-
-
-
1Loss-
ARSB-
-
-
-
1Loss-
ARSK-
-
-
-
1Loss-
ARTN-
-
-
-
1Loss-
ASAH1-
-
-
-
0Del-
ASAP1-
-
-
-
3Gain-
ASAP3-
-
-
-
1Loss-
ASB17-
-
-
-
1Loss-
ASB7-
-
-
-
1Loss-
ASCL1-
-
-
-
1Loss-
ASCL4-
-
-
-
1Loss-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASIP-
-
-
-
3Gain-
ASPA-
-
-
-
1Loss-
ASPH-
-
-
-
3Gain-
ASXL1-
-
-
-
3Gain-
ASXL3-
-
-
-
1Loss-
ATAD2-
-
-
-
3Gain-
ATAD3A-
-
-
-
1Loss-
ATAD3B-
-
-
-
1Loss-
ATAD3C-
-
-
-
1Loss-
ATG10-
-
-
-
1Loss-
ATG12-
-
-
-
1Loss-
ATG4C-
-
-
-
1Loss-
ATM-
-
-
-
1Loss-
ATP10A-
-
-
-
1Loss-
ATP11A-
-
-
-
3Gain-
ATP12A-
-
-
-
3Gain-
ATP13A2-
-
-
-
1Loss-
ATP1A1-
-
-
-
1Loss-
ATP1B2-
-
-
-
0Del-
ATP2A2-
-
-
-
1Loss-
ATP2A3-
-
-
-
1Loss-
ATP2B1-
-
-
-
1Loss-
ATP4B-
-
-
-
3Gain-
ATP5F1A-
-
-
-
1Loss-
ATP5F1E-
-
-
-
3Gain-
ATP5IF1-
-
-
-
1Loss-
ATP5MG-
-
-
-
1Loss-
ATP5PB-
-
-
-
1Loss-
ATP6AP1L-
-
-
-
1Loss-
ATP6V0A2-
-
-
-
1Loss-
ATP6V0B-
-
-
-
1Loss-
ATP6V0D2-
-
-
-
3Gain-
ATP6V1B2-
-
-
-
0Del-
ATP6V1C1-
-
-
-
3Gain-
ATP6V1H-
-
-
-
3Gain-
ATP7B-
-
-
-
3Gain-
ATP8A2-
-
-
-
3Gain-
ATP8B1-
-
-
-
1Loss-
ATP8B4-
-
-
-
1Loss-
ATP9A-
-
-
-
3Gain-
ATP9B-
-
-
-
1Loss-
ATPAF1-
-
-
-
1Loss-
ATRN-
-
-
-
3Gain-
ATXN2-
-
-
-
1Loss-
ATXN7L2-
-
-
-
1Loss-
ATXN7L3B-
-
-
-
1Loss-
AUNIP-
-
-
-
1Loss-
AURKA-
-
-
-
3Gain-
AURKAIP1-
-
-
-
1Loss-
AVEN-
-
-
-
1Loss-
AVP-
-
-
-
3Gain-
AZIN1-
-
-
-
3Gain-
AZIN2-
-
-
-
1Loss-
B2M-
-
-
-
1Loss-
B3GALT6-
-
-
-
1Loss-
B3GAT1-
-
-
-
1Loss-
B3GLCT-
-
-
-
3Gain-
B3GNT4-
-
-
-
1Loss-
B4GALT1-
-
-
-
3Gain-
B4GALT2-
-
-
-
1Loss-
B4GALT5-
-
-
-
3Gain-
B4GALT6-
-
-
-
1Loss-
BAALC-
-
-
-
3Gain-
BACE1-
-
-
-
1Loss-
BAG1-
-
-
-
3Gain-
BAHD1-
-
-
-
1Loss-
BANF2-
-
-
-
3Gain-
BARHL2-
-
-
-
1Loss-
BARX2-
-
-
-
1Loss-
BBS10-
-
-
-
1Loss-
BBS4-
-
-
-
1Loss-
BCAR3-
-
-
-
1Loss-
BCAS1-
-
-
-
3Gain-
BCAS2-
-
-
-
1Loss-
BCAS4-
-
-
-
3Gain-
BCL10-
-
-
-
1Loss-
BCL2-
-
-
-
1Loss-
BCL2A1-
-
-
-
1Loss-
BCL2L1-
-
-
-
6Amp-
BCL2L10-
-
-
-
1Loss-
BCL2L15-
-
-
-
1Loss-
BCL6B-
-
-
-
1Loss-
BCL7A-
-
-
-
1Loss-
BCL9L-
-
-
-
1Loss-
BCO2-
-
-
-
1Loss-
BDP1-
-
-
-
1Loss-
BEND5-
-
-
-
1Loss-
BEST3-
-
-
-
26Amp-
BEST4-
-
-
-
1Loss-
BFSP1-
-
-
-
3Gain-
BHLHA9-
-
-
-
1Loss-
BHLHE22-
-
-
-
3Gain-
BHLHE23-
-
-
-
3Gain-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BICDL1-
-
-
-
1Loss-
BIN3-
-
-
-
0Del-
BIRC2-
-
-
-
19Amp-
BIRC3-
-
-
-
19Amp-
BIRC7-
-
-
-
3Gain-
BIVM-
-
-
-
3Gain-
BIVM-ERCC5-
-
-
-
3Gain-
BLCAP-
-
-
-
3Gain-
BLID-
-
-
-
1Loss-
BLK-
-
-
-
0Del-
BLM-
-
-
-
1Loss-
BLOC1S6-
-
-
-
1Loss-
BMF-
-
-
-
1Loss-
BMP1-
-
-
-
0Del-
BMP2-
-
-
-
3Gain-
BMP7-
-
-
-
3Gain-
BMP8A-
-
-
-
1Loss-
BMP8B-
-
-
-
1Loss-
BNC1-
-
-
-
1Loss-
BNIP2-
-
-
-
1Loss-
BNIP3L-
-
-
-
0Del-
BOD1L2-
-
-
-
1Loss-
BORA-
-
-
-
3Gain-
BPI-
-
-
-
3Gain-
BPIFA1-
-
-
-
3Gain-
BPIFA2-
-
-
-
3Gain-
BPIFA3-
-
-
-
3Gain-
BPIFB1-
-
-
-
3Gain-
BPIFB2-
-
-
-
3Gain-
BPIFB3-
-
-
-
3Gain-
BPIFB4-
-
-
-
3Gain-
BPIFB6-
-
-
-
3Gain-
BRAP-
-
-
-
1Loss-
BRCA2-
-
-
-
3Gain-
BRDT-
-
-
-
1Loss-
BRI3BP-
-
-
-
1Loss-
BSDC1-
-
-
-
1Loss-
BSND-
-
-
-
1Loss-
BSX-
-
-
-
1Loss-
BTBD1-
-
-
-
1Loss-
BTBD11-
-
-
-
1Loss-
BTBD19-
-
-
-
1Loss-
BTBD3-
-
-
-
3Gain-
BTBD8-
-
-
-
1Loss-
BTF3-
-
-
-
1Loss-
BTF3L4-
-
-
-
1Loss-
BTG1-
-
-
-
1Loss-
BTG4-
-
-
-
1Loss-
BUB1B-
-
-
-
1Loss-
BUB1B-PAK6-
-
-
-
1Loss-
BUD13-
-
-
-
1Loss-
C11orf1-
-
-
-
1Loss-
C11orf45-
-
-
-
1Loss-
C11orf52-
-
-
-
1Loss-
C11orf53-
-
-
-
1Loss-
C11orf54-
-
-
-
7Amp-
C11orf65-
-
-
-
1Loss-
C11orf71-
-
-
-
1Loss-
C11orf87-
-
-
-
1Loss-
C11orf88-
-
-
-
1Loss-
C11orf97-
-
-
-
7Amp-
C12orf29-
-
-
-
1Loss-
C12orf42-
-
-
-
1Loss-
C12orf43-
-
-
-
1Loss-
C12orf45-
-
-
-
1Loss-
C12orf49-
-
-
-
1Loss-
C12orf50-
-
-
-
1Loss-
C12orf65-
-
-
-
1Loss-
C12orf73-
-
-
-
1Loss-
C12orf75-
-
-
-
1Loss-
C12orf76-
-
-
-
1Loss-
C15orf38-AP3S2-
-
-
-
1Loss-
C15orf39-
-
-
-
1Loss-
C15orf40-
-
-
-
1Loss-
C15orf41-
-
-
-
1Loss-
C15orf48-
-
-
-
1Loss-
C15orf53-
-
-
-
1Loss-
C15orf61-
-
-
-
1Loss-
C15orf62-
-
-
-
1Loss-
C15orf65-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf97-
-
-
-
1Loss-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C1orf109-
-
-
-
1Loss-
C1orf122-
-
-
-
1Loss-
C1orf123-
-
-
-
1Loss-
C1orf127-
-
-
-
1Loss-
C1orf141-
-
-
-
1Loss-
C1orf146-
-
-
-
1Loss-
C1orf158-
-
-
-
1Loss-
C1orf159-
-
-
-
1Loss-
C1orf162-
-
-
-
1Loss-
C1orf167-
-
-
-
1Loss-
C1orf174-
-
-
-
1Loss-
C1orf185-
-
-
-
1Loss-
C1orf194-
-
-
-
1Loss-
C1orf210-
-
-
-
1Loss-
C1orf216-
-
-
-
1Loss-
C1orf50-
-
-
-
1Loss-
C1orf52-
-
-
-
1Loss-
C1orf87-
-
-
-
1Loss-
C1orf94-
-
-
-
1Loss-
C1QA-
-
-
-
1Loss-
C1QB-
-
-
-
1Loss-
C1QBP-
-
-
-
1Loss-
C1QC-
-
-
-
1Loss-
C1QTNF12-
-
-
-
1Loss-
C1QTNF5-
-
-
-
1Loss-
C1QTNF9-
-
-
-
3Gain-
C1QTNF9B-
-
-
-
3Gain-
C20orf141-
-
-
-
3Gain-
C20orf144-
-
-
-
3Gain-
C20orf173-
-
-
-
3Gain-
C20orf194-
-
-
-
3Gain-
C20orf202-
-
-
-
3Gain-
C20orf203-
-
-
-
3Gain-
C20orf204-
-
-
-
3Gain-
C20orf27-
-
-
-
3Gain-
C20orf85-
-
-
-
3Gain-
C20orf96-
-
-
-
3Gain-
C2CD2L-
-
-
-
1Loss-
C2CD4A-
-
-
-
1Loss-
C2CD4B-
-
-
-
1Loss-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C5orf15-
-
-
-
1Loss-
C5orf24-
-
-
-
1Loss-
C5orf30-
-
-
-
1Loss-
C5orf63-
-
-
-
1Loss-
C5orf67-
-
-
-
1Loss-
C8A-
-
-
-
1Loss-
C8B-
-
-
-
1Loss-
C8orf33-
-
-
-
3Gain-
C8orf34-
-
-
-
3Gain-
C8orf37-
-
-
-
3Gain-
C8orf44-
-
-
-
3Gain-
C8orf48-
-
-
-
0Del-
C8orf58-
-
-
-
0Del-
C8orf59-
-
-
-
3Gain-
C8orf74-
-
-
-
0Del-
C8orf76-
-
-
-
3Gain-
C8orf82-
-
-
-
3Gain-
C8orf88-
-
-
-
3Gain-
C8orf89-
-
-
-
3Gain-
C9orf131-
-
-
-
3Gain-
C9orf24-
-
-
-
3Gain-
CA1-
-
-
-
3Gain-
CA12-
-
-
-
1Loss-
CA13-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA6-
-
-
-
1Loss-
CA8-
-
-
-
3Gain-
CA9-
-
-
-
3Gain-
CAB39L-
-
-
-
3Gain-
CABLES1-
-
-
-
1Loss-
CABLES2-
-
-
-
3Gain-
CABP1-
-
-
-
1Loss-
CABYR-
-
-
-
1Loss-
CACHD1-
-
-
-
1Loss-
CADM1-
-
-
-
1Loss-
CALB1-
-
-
-
3Gain-
CALML4-
-
-
-
1Loss-
CALML6-
-
-
-
1Loss-
CAMK2N1-
-
-
-
1Loss-
CAMK4-
-
-
-
1Loss-
CAMKK1-
-
-
-
1Loss-
CAMKK2-
-
-
-
1Loss-
CAMLG-
-
-
-
1Loss-
CAMTA1-
-
-
-
1Loss-
CAMTA2-
-
-
-
1Loss-
CAND1-
-
-
-
15Amp-
CAP1-
-
-
-
1Loss-
CAPN3-
-
-
-
1Loss-
CAPS2-
-
-
-
1Loss-
CAPZA1-
-
-
-
1Loss-
CAPZB-
-
-
-
1Loss-
CARD16-
-
-
-
1Loss-
CARD17-
-
-
-
1Loss-
CARD18-
-
-
-
1Loss-
CARS2-
-
-
-
3Gain-
CARTPT-
-
-
-
1Loss-
CASC4-
-
-
-
1Loss-
CASP1-
-
-
-
1Loss-
CASP12-
-
-
-
1Loss-
CASP4-
-
-
-
1Loss-
CASP5-
-
-
-
1Loss-
CASP9-
-
-
-
1Loss-
CASQ2-
-
-
-
1Loss-
CASS4-
-
-
-
3Gain-
CAST-
-
-
-
1Loss-
CASZ1-
-
-
-
1Loss-
CATSPER2-
-
-
-
1Loss-
CATSPER3-
-
-
-
1Loss-
CATSPER4-
-
-
-
1Loss-
CBFA2T2-
-
-
-
3Gain-
CBL-
-
-
-
1Loss-
CBLN2-
-
-
-
1Loss-
CBLN4-
-
-
-
3Gain-
CBWD3-
-
-
-
1Loss-
CBWD5-
-
-
-
1Loss-
CBWD6-
-
-
-
1Loss-
CC2D1B-
-
-
-
1Loss-
CCAR2-
-
-
-
0Del-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC107-
-
-
-
3Gain-
CCDC112-
-
-
-
1Loss-
CCDC122-
-
-
-
3Gain-
CCDC125-
-
-
-
1Loss-
CCDC15-
-
-
-
1Loss-
CCDC153-
-
-
-
1Loss-
CCDC163-
-
-
-
1Loss-
CCDC166-
-
-
-
3Gain-
CCDC168-
-
-
-
3Gain-
CCDC169-
-
-
-
3Gain-
CCDC169-SOHLH2-
-
-
-
3Gain-
CCDC17-
-
-
-
1Loss-
CCDC178-
-
-
-
1Loss-
CCDC18-
-
-
-
1Loss-
CCDC24-
-
-
-
1Loss-
CCDC25-
-
-
-
0Del-
CCDC27-
-
-
-
1Loss-
CCDC28B-
-
-
-
1Loss-
CCDC30-
-
-
-
1Loss-
CCDC32-
-
-
-
1Loss-
CCDC33-
-
-
-
1Loss-
CCDC38-
-
-
-
1Loss-
CCDC59-
-
-
-
1Loss-
CCDC60-
-
-
-
1Loss-
CCDC62-
-
-
-
1Loss-
CCDC63-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC70-
-
-
-
3Gain-
CCDC81-
-
-
-
7Amp-
CCDC82-
-
-
-
11Amp-
CCDC83-
-
-
-
7Amp-
CCDC84-
-
-
-
1Loss-
CCDC89-
-
-
-
7Amp-
CCDC92-
-
-
-
1Loss-
CCDC9B-
-
-
-
1Loss-
CCER1-
-
-
-
1Loss-
CCL19-
-
-
-
3Gain-
CCL21-
-
-
-
3Gain-
CCL27-
-
-
-
3Gain-
CCM2L-
-
-
-
11Amp-
CCNA1-
-
-
-
3Gain-
CCNB1-
-
-
-
1Loss-
CCNB2-
-
-
-
1Loss-
CCNDBP1-
-
-
-
1Loss-
CCNE2-
-
-
-
3Gain-
CCNH-
-
-
-
1Loss-
CCNI2-
-
-
-
1Loss-
CCNL2-
-
-
-
1Loss-
CCNO-
-
-
-
1Loss-
CCPG1-
-
-
-
1Loss-
CCT2-
-
-
-
26Amp-
CD101-
-
-
-
1Loss-
CD109-
-
-
-
3Gain-
CD164L2-
-
-
-
1Loss-
CD180-
-
-
-
1Loss-
CD2-
-
-
-
1Loss-
CD226-
-
-
-
1Loss-
CD276-
-
-
-
1Loss-
CD3D-
-
-
-
1Loss-
CD3E-
-
-
-
1Loss-
CD3G-
-
-
-
1Loss-
CD40-
-
-
-
3Gain-
CD52-
-
-
-
1Loss-
CD53-
-
-
-
1Loss-
CD58-
-
-
-
1Loss-
CD68-
-
-
-
1Loss-
CD72-
-
-
-
3Gain-
CD93-
-
-
-
3Gain-
CDA-
-
-
-
1Loss-
CDADC1-
-
-
-
3Gain-
CDAN1-
-
-
-
1Loss-
CDC14A-
-
-
-
1Loss-
CDC16-
-
-
-
3Gain-
CDC20-
-
-
-
1Loss-
CDC20B-
-
-
-
1Loss-
CDC25B-
-
-
-
3Gain-
CDC37L1-
-
-
-
3Gain-
CDC42-
-
-
-
1Loss-
CDC42SE2-
-
-
-
1Loss-
CDC7-
-
-
-
1Loss-
CDCA2-
-
-
-
0Del-
CDCA8-
-
-
-
1Loss-
CDCP2-
-
-
-
1Loss-
CDH17-
-
-
-
3Gain-
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH22-
-
-
-
3Gain-
CDH26-
-
-
-
3Gain-
CDH4-
-
-
-
3Gain-
CDH7-
-
-
-
1Loss-
CDK11A-
-
-
-
1Loss-
CDK11B-
-
-
-
1Loss-
CDK17-
-
-
-
1Loss-
CDK2AP1-
-
-
-
1Loss-
CDK5RAP1-
-
-
-
3Gain-
CDK7-
-
-
-
1Loss-
CDK8-
-
-
-
3Gain-
CDKL3-
-
-
-
1Loss-
CDKN2AIPNL-
-
-
-
1Loss-
CDKN2C-
-
-
-
1Loss-
CDO1-
-
-
-
1Loss-
CDON-
-
-
-
1Loss-
CDS2-
-
-
-
3Gain-
CDX2-
-
-
-
3Gain-
CEACAM5-
-
-
-
2-CEACAM5--AL139099.4
CEBPB-
-
-
-
3Gain-
CEBPD-
-
-
-
3Gain-
CELA2A-
-
-
-
1Loss-
CELA2B-
-
-
-
1Loss-
CELA3A-
-
-
-
1Loss-
CELA3B-
-
-
-
1Loss-
CELF4-
-
-
-
1Loss-
CELF6-
-
-
-
1Loss-
CELSR2-
-
-
-
1Loss-
CEMIP-
-
-
-
1Loss-
CENPB-
-
-
-
3Gain-
CENPH-
-
-
-
1Loss-
CENPJ-
-
-
-
3Gain-
CENPK-
-
-
-
1Loss-
CENPS-
-
-
-
1Loss-
CENPS-CORT-
-
-
-
1Loss-
CEP104-
-
-
-
1Loss-
CEP120-
-
-
-
1Loss-
CEP126-
-
-
-
19Amp-
CEP152-
-
-
-
1Loss-
CEP164-
-
-
-
1Loss-
CEP192-
-
-
-
1Loss-
CEP250-
-
-
-
3Gain-
CEP290-
-
-
-
1Loss-
CEP295-
-
-
-
7Amp-
CEP57-
-
-
-
11Amp-
CEP76-
-
-
-
1Loss-
CEP83-
-
-
-
1Loss-
CEP85-
-
-
-
1Loss-
CEPT1-
-
-
-
1Loss-
CERS3-
-
-
-
1Loss-
CETN1-
-
-
-
0Del-
CETN3-
-
-
-
1Loss-
CFAP161-
-
-
-
1Loss-
CFAP300-
-
-
-
19Amp-
CFAP53-
-
-
-
1Loss-
CFAP54-
-
-
-
1Loss-
CFAP57-
-
-
-
1Loss-
CFAP61-
-
-
-
3Gain-
CFAP73-
-
-
-
1Loss-
CFAP74-
-
-
-
1Loss-
CFHR1p.W134L
Missense
SNP
1.000
2--
CGAS-
-
-
-
3Gain-
CGNL1-
-
-
-
1Loss-
CHAC1-
-
-
-
1Loss-
CHAMP1-
-
-
-
3Gain-
CHCHD7-
-
-
-
3Gain-
CHD1-
-
-
-
1Loss-
CHD2-
-
-
-
1Loss-
CHD5-
-
-
-
1Loss-
CHD6-
-
-
-
3Gain-
CHD7-
-
-
-
3Gain-
CHEK1-
-
-
-
1Loss-
CHFR-
-
-
-
1Loss-
CHGB-
-
-
-
3Gain-
CHI3L2-
-
-
-
1Loss-
CHIA-
-
-
-
1Loss-
CHMP1B-
-
-
-
1Loss-
CHMP4B-
-
-
-
3Gain-
CHMP4C-
-
-
-
3Gain-
CHMP5-
-
-
-
3Gain-
CHMP7-
-
-
-
0Del-
CHORDC1-
-
-
-
7Amp-
CHP1-
-
-
-
1Loss-
CHPT1-
-
-
-
1Loss-
CHRAC1-
-
-
-
3Gain-
CHRFAM7A-
-
-
-
1Loss-
CHRM5-
-
-
-
1Loss-
CHRNA2-
-
-
-
0Del-
CHRNA3-
-
-
-
1Loss-
CHRNA4-
-
-
-
3Gain-
CHRNA5-
-
-
-
1Loss-
CHRNA7-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNB4-
-
-
-
1Loss-
CHRNE-
-
-
-
1Loss-
CHST11-
-
-
-
1Loss-
CHST14-
-
-
-
1Loss-
CHST9-
-
-
-
1Loss-
CHSY1-
-
-
-
1Loss-
CHSY3-
-
-
-
1Loss-
CIAO2A-
-
-
-
1Loss-
CIB1-
-
-
-
1Loss-
CIB2-
-
-
-
1Loss-
CIDEA-
-
-
-
1Loss-
CILP-
-
-
-
1Loss-
CIT-
-
-
-
1Loss-
CITED4-
-
-
-
1Loss-
CKAP2-
-
-
-
3Gain-
CKAP4-
-
-
-
1Loss-
CKMT1A-
-
-
-
1Loss-
CKMT1B-
-
-
-
1Loss-
CKMT2-
-
-
-
1Loss-
CLCA1-
-
-
-
1Loss-
CLCA2-
-
-
-
1Loss-
CLCA4-
-
-
-
1Loss-
CLCC1-
-
-
-
1Loss-
CLCN6-
-
-
-
1Loss-
CLCNKA-
-
-
-
1Loss-
CLCNKB-
-
-
-
1Loss-
CLDN10-
-
-
-
3Gain-
CLDN19-
-
-
-
1Loss-
CLDN23-
-
-
-
0Del-
CLDN25-
-
-
-
1Loss-
CLDN7-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLIC4-
-
-
-
1Loss-
CLIP1-
-
-
-
1Loss-
CLK3-
-
-
-
1Loss-
CLLU1OS-
-
-
-
1Loss-
CLMP-
-
-
-
1Loss-
CLN5-
-
-
-
3Gain-
CLN6-
-
-
-
1Loss-
CLN8-
-
-
-
0Del-
CLPX-
-
-
-
1Loss-
CLSPN-
-
-
-
1Loss-
CLSTN1-
-
-
-
1Loss-
CLU-
-
-
-
0Del-
CLUH-
-
-
-
1Loss-
CLUL1-
-
-
-
0Del-
CLVS1-
-
-
-
3Gain-
CLYBL-
-
-
-
3Gain-
CMKLR1-
-
-
-
1Loss-
CMPK1-
-
-
-
1Loss-
CMYA5-
-
-
-
1Loss-
CNBD1-
-
-
-
3Gain-
CNBD2-
-
-
-
3Gain-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNGB3-
-
-
-
3Gain-
CNKSR1-
-
-
-
1Loss-
CNMD-
-
-
-
3Gain-
CNN3-
-
-
-
1Loss-
CNOT2-
-
-
-
9Amp-
CNOT7-
-
-
-
0Del-
CNR2-
-
-
-
1Loss-
CNTFR-
-
-
-
3Gain-
CNTN5-
-
-
-
11Amp-
CNTNAP3-
-
-
-
1Loss-
CNTNAP3B-
-
-
-
1Loss-
CNTNAP3C-
-
-
-
1Loss-
COA7-
-
-
-
1Loss-
COG3-
-
-
-
3Gain-
COG6-
-
-
-
3Gain-
COL11A1-
-
-
-
1Loss-
COL14A1-
-
-
-
3Gain-
COL16A1-
-
-
-
1Loss-
COL20A1-
-
-
-
3Gain-
COL22A1-
-
-
-
3Gain-
COL24A1-
-
-
-
1Loss-
COL4A1-
-
-
-
3Gain-
COL4A2-
-
-
-
3Gain-
COL4A3BP-
-
-
-
1Loss-
COL8A2-
-
-
-
1Loss-
COL9A2-
-
-
-
1Loss-
COL9A3-
-
-
-
3Gain-
COLCA2-
-
-
-
1Loss-
COLEC10-
-
-
-
3Gain-
COLEC12-
-
-
-
0Del-
COMMD10-
-
-
-
1Loss-
COMMD4-
-
-
-
1Loss-
COMMD5-
-
-
-
3Gain-
COMMD6-
-
-
-
3Gain-
COMMD7-
-
-
-
3Gain-
COPS2-
-
-
-
1Loss-
COPS5-
-
-
-
3Gain-
COQ5-
-
-
-
1Loss-
CORO1C-
-
-
-
1Loss-
CORO2B-
-
-
-
1Loss-
CORT-
-
-
-
1Loss-
COX4I2-
-
-
-
6Amp-
COX5A-
-
-
-
1Loss-
COX6A1-
-
-
-
1Loss-
COX6C-
-
-
-
3Gain-
CPA6-
-
-
-
3Gain-
CPB2-
-
-
-
3Gain-
CPEB1-
-
-
-
1Loss-
CPLANE2-
-
-
-
1Loss-
CPLX3-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPM-
-
-
-
26Amp-
CPNE1-
-
-
-
3Gain-
CPNE3-
-
-
-
3Gain-
CPQ-
-
-
-
3Gain-
CPSF1-
-
-
-
3Gain-
CPSF6-
-
-
-
26Amp-
CPT1A-
-
-
-
2-RNA5-8SN2--CPT1A
CPT2-
-
-
-
1Loss-
CPTP-
-
-
-
1Loss-
CPXM1-
-
-
-
3Gain-
CRABP1-
-
-
-
1Loss-
CRADD-
-
-
-
1Loss-
CREBZF-
-
-
-
7Amp-
CRH-
-
-
-
3Gain-
CRHBP-
-
-
-
1Loss-
CRISPLD1-
-
-
-
3Gain-
CRK-
-
-
-
1Loss-
CRLS1-
-
-
-
3Gain-
CRNKL1-
-
-
-
3Gain-
CROCC-
-
-
-
1Loss-
CRTAM-
-
-
-
1Loss-
CRTC3-
-
-
-
1Loss-
CRY1-
-
-
-
1Loss-
CRYAB-
-
-
-
1Loss-
CRYBG2-
-
-
-
1Loss-
CRYL1-
-
-
-
3Gain-
CRYZ-
-
-
-
1Loss-
CSDE1-
-
-
-
1Loss-
CSE1L-
-
-
-
3Gain-
CSF1-
-
-
-
1Loss-
CSF2-
-
-
-
1Loss-
CSF3R-
-
-
-
1Loss-
CSGALNACT1-
-
-
-
0Del-
CSK-
-
-
-
1Loss-
CSMD1-
-
-
-
0Del-
CSMD2-
-
-
-
1Loss-
CSMD3p.C1878*
Nonsense
SNP
0.165
3Gain-
CSNK1A1L-
-
-
-
3Gain-
CSNK1G1-
-
-
-
1Loss-
CSNK1G3-
-
-
-
1Loss-
CSNK2A1-
-
-
-
3Gain-
CSPG4-
-
-
-
1Loss-
CSPP1-
-
-
-
3Gain-
CSRP2-
-
-
-
1Loss-
CST1-
-
-
-
3Gain-
CST11-
-
-
-
3Gain-
CST2-
-
-
-
3Gain-
CST3-
-
-
-
3Gain-
CST4-
-
-
-
3Gain-
CST5-
-
-
-
3Gain-
CST7-
-
-
-
3Gain-
CST8-
-
-
-
3Gain-
CST9-
-
-
-
3Gain-
CST9L-
-
-
-
3Gain-
CSTF1-
-
-
-
3Gain-
CSTL1-
-
-
-
3Gain-
CT62-
-
-
-
1Loss-
CTAGE1-
-
-
-
1Loss-
CTBS-
-
-
-
1Loss-
CTCFL-
-
-
-
3Gain-
CTDNEP1-
-
-
-
1Loss-
CTDP1-
-
-
-
1Loss-
CTDSPL2-
-
-
-
1Loss-
CTH-
-
-
-
1Loss-
CTHRC1-
-
-
-
3Gain-
CTIF-
-
-
-
1Loss-
CTNNBIP1-
-
-
-
1Loss-
CTNNBL1-
-
-
-
3Gain-
CTNS-
-
-
-
1Loss-
CTPS1-
-
-
-
1Loss-
CTRC-
-
-
-
1Loss-
CTSA-
-
-
-
3Gain-
CTSB-
-
-
-
0Del-
CTSC-
-
-
-
7Amp-
CTSH-
-
-
-
1Loss-
CTSZ-
-
-
-
3Gain-
CTTNBP2NL-
-
-
-
1Loss-
CTXN2-
-
-
-
1Loss-
CTXN3-
-
-
-
1Loss-
CUL4A-
-
-
-
3Gain-
CUL5-
-
-
-
1Loss-
CUX2-
-
-
-
1Loss-
CWC15-
-
-
-
7Amp-
CWC27-
-
-
-
1Loss-
CWF19L2-
-
-
-
1Loss-
CXCL14-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCR5-
-
-
-
1Loss-
CXXC1-
-
-
-
1Loss-
CYB561D1-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5RL-
-
-
-
1Loss-
CYC1-
-
-
-
3Gain-
CYFIP1-
-
-
-
1Loss-
CYHR1-
-
-
-
3Gain-
CYP11A1-
-
-
-
1Loss-
CYP11B1-
-
-
-
3Gain-
CYP11B2-
-
-
-
3Gain-
CYP19A1-
-
-
-
1Loss-
CYP1A1-
-
-
-
1Loss-
CYP1A2-
-
-
-
1Loss-
CYP21A2-
-
-
-
1Loss-
CYP24A1-
-
-
-
3Gain-
CYP2J2-
-
-
-
1Loss-
CYP4A11-
-
-
-
1Loss-
CYP4A22-
-
-
-
1Loss-
CYP4B1-
-
-
-
1Loss-
CYP4X1-
-
-
-
1Loss-
CYP4Z1-
-
-
-
1Loss-
CYP7A1-
-
-
-
3Gain-
CYP7B1-
-
-
-
3Gain-
CYR61-
-
-
-
1Loss-
CYSLTR2-
-
-
-
3Gain-
DAB1-
-
-
-
1Loss-
DACH1-
-
-
-
3Gain-
DAO-
-
-
-
1Loss-
DAOA-
-
-
-
3Gain-
DAPK2-
-
-
-
1Loss-
DBNDD2-
-
-
-
3Gain-
DBT-
-
-
-
1Loss-
DCAF12-
-
-
-
3Gain-
DCAF13-
-
-
-
3Gain-
DCAF4L2-
-
-
-
3Gain-
DCANP1-
-
-
-
1Loss-
DCC-
-
-
-
1Loss-
DCDC2B-
-
-
-
1Loss-
DCLK1-
-
-
-
3Gain-
DCLRE1B-
-
-
-
1Loss-
DCN-
-
-
-
1Loss-
DCP2-
-
-
-
1Loss-
DCPS-
-
-
-
1Loss-
DCSTAMP-
-
-
-
3Gain-
DCT-
-
-
-
3Gain-
DCTN3-
-
-
-
3Gain-
DCTN6-
-
-
-
0Del-
DCUN1D2-
-
-
-
3Gain-
DCUN1D5-
-
-
-
20Amp-
DDAH1-
-
-
-
1Loss-
DDI1-
-
-
-
1Loss-
DDI2-
-
-
-
1Loss-
DDOST-
-
-
-
1Loss-
DDRGK1-
-
-
-
3Gain-
DDX10-
-
-
-
1Loss-
DDX20-
-
-
-
1Loss-
DDX25-
-
-
-
1Loss-
DDX27-
-
-
-
3Gain-
DDX4-
-
-
-
1Loss-
DDX43-
-
-
-
3Gain-
DDX46-
-
-
-
1Loss-
DDX51-
-
-
-
1Loss-
DDX54-
-
-
-
1Loss-
DDX55-
-
-
-
1Loss-
DDX58-
-
-
-
3Gain-
DDX6-
-
-
-
1Loss-
DECR1-
-
-
-
3Gain-
DEFA4-
-
-
-
0Del-
DEFA5-
-
-
-
0Del-
DEFA6-
-
-
-
0Del-
DEFB1-
-
-
-
0Del-
DEFB105B-
-
-
-
0Del-
DEFB106A-
-
-
-
0Del-
DEFB115-
-
-
-
6Amp-
DEFB116-
-
-
-
6Amp-
DEFB118-
-
-
-
6Amp-
DEFB119-
-
-
-
6Amp-
DEFB121-
-
-
-
6Amp-
DEFB123-
-
-
-
6Amp-
DEFB124-
-
-
-
6Amp-
DEFB125-
-
-
-
3Gain-
DEFB126-
-
-
-
3Gain-
DEFB127-
-
-
-
3Gain-
DEFB128-
-
-
-
3Gain-
DEFB129-
-
-
-
3Gain-
DEFB132-
-
-
-
3Gain-
DEFB134-
-
-
-
0Del-
DEFB135-
-
-
-
0Del-
DEFB136-
-
-
-
0Del-
DENND2C-
-
-
-
1Loss-
DENND2D-
-
-
-
1Loss-
DENND3-
-
-
-
3Gain-
DENND4A-
-
-
-
1Loss-
DENR-
-
-
-
1Loss-
DEPDC1-
-
-
-
1Loss-
DEPDC1B-
-
-
-
1Loss-
DEPDC4-
-
-
-
1Loss-
DEPTOR-
-
-
-
3Gain-
DERL1-
-
-
-
3Gain-
DERL2-
-
-
-
1Loss-
DET1-
-
-
-
1Loss-
DEUP1-
-
-
-
7Amp-
DFFA-
-
-
-
1Loss-
DFFB-
-
-
-
1Loss-
DGAT1-
-
-
-
3Gain-
DGKH-
-
-
-
3Gain-
DHCR24-
-
-
-
1Loss-
DHDDS-
-
-
-
1Loss-
DHFR-
-
-
-
1Loss-
DHRS12-
-
-
-
3Gain-
DHRS3-
-
-
-
1Loss-
DHX29-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX35-
-
-
-
3Gain-
DHX37-
-
-
-
1Loss-
DIABLO-
-
-
-
1Loss-
DIAPH3-
-
-
-
3Gain-
DIDO1-
-
-
-
3Gain-
DIMT1-
-
-
-
1Loss-
DIO1-
-
-
-
1Loss-
DIP2Cp.V1072I
Missense
SNP
0.235
2--
DIRAS3-
-
-
-
1Loss-
DIS3-
-
-
-
3Gain-
DIS3L-
-
-
-
1Loss-
DISP2-
-
-
-
1Loss-
DISP3-
-
-
-
1Loss-
DIXDC1-
-
-
-
1Loss-
DLAT-
-
-
-
1Loss-
DLC1-
-
-
-
0Del-
DLEU7-
-
-
-
3Gain-
DLG4-
-
-
-
1Loss-
DLGAP1-
-
-
-
0Del-
DLGAP2-
-
-
-
0Del-
DLGAP3-
-
-
-
1Loss-
DLGAP4-
-
-
-
3Gain-
DLL4-
-
-
-
1Loss-
DMAP1-
-
-
-
1Loss-
DMBX1-
-
-
-
1Loss-
DMGDH-
-
-
-
1Loss-
DMRTA2-
-
-
-
1Loss-
DMRTB1-
-
-
-
1Loss-
DMTN-
-
-
-
0Del-
DMXL1-
-
-
-
1Loss-
DMXL2-
-
-
-
1Loss-
DNAAF4-
-
-
-
1Loss-
DNAH10-
-
-
-
1Loss-
DNAI1-
-
-
-
3Gain-
DNAJA1-
-
-
-
3Gain-
DNAJA4-
-
-
-
1Loss-
DNAJB4-
-
-
-
1Loss-
DNAJB5-
-
-
-
3Gain-
DNAJC11-
-
-
-
1Loss-
DNAJC15-
-
-
-
3Gain-
DNAJC16-
-
-
-
1Loss-
DNAJC17-
-
-
-
1Loss-
DNAJC3-
-
-
-
3Gain-
DNAJC5-
-
-
-
3Gain-
DNAJC5B-
-
-
-
3Gain-
DNAJC6-
-
-
-
1Loss-
DNAJC8-
-
-
-
1Loss-
DNALI1-
-
-
-
1Loss-
DNASE2B-
-
-
-
1Loss-
DNMT3B-
-
-
-
3Gain-
DNTTIP1-
-
-
-
3Gain-
DNTTIP2-
-
-
-
1Loss-
DOC2B-
-
-
-
1Loss-
DOCK5-
-
-
-
0Del-
DOCK7-
-
-
-
1Loss-
DOCK9-
-
-
-
3Gain-
DOK2-
-
-
-
0Del-
DOK5-
-
-
-
3Gain-
DOK6-
-
-
-
1Loss-
DPAGT1-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPH2-
-
-
-
1Loss-
DPH5-
-
-
-
1Loss-
DPH6-
-
-
-
1Loss-
DPM1-
-
-
-
3Gain-
DPP8-
-
-
-
1Loss-
DPPA5-
-
-
-
3Gain-
DPY19L4-
-
-
-
3Gain-
DPYD-
-
-
-
1Loss-
DPYS-
-
-
-
3Gain-
DPYSL2-
-
-
-
0Del-
DR1-
-
-
-
1Loss-
DRAM1-
-
-
-
1Loss-
DRAM2-
-
-
-
1Loss-
DRAXIN-
-
-
-
1Loss-
DRD2-
-
-
-
1Loss-
DRP2p.R597W
Missense
SNP
0.255
NDND-
DSC1-
-
-
-
1Loss-
DSC2-
-
-
-
1Loss-
DSC3-
-
-
-
1Loss-
DSCAML1-
-
-
-
1Loss-
DSCC1-
-
-
-
3Gain-
DSEL-
-
-
-
1Loss-
DSG1-
-
-
-
1Loss-
DSG2-
-
-
-
1Loss-
DSG3-
-
-
-
1Loss-
DSG4-
-
-
-
1Loss-
DSN1-
-
-
-
3Gain-
DSTN-
-
-
-
3Gain-
DTD1-
-
-
-
3Gain-
DTNA-
-
-
-
1Loss-
DTWD1-
-
-
-
1Loss-
DTWD2-
-
-
-
1Loss-
DTX1-
-
-
-
1Loss-
DUOX1-
-
-
-
1Loss-
DUOX2-
-
-
-
1Loss-
DUOXA1-
-
-
-
1Loss-
DUOXA2-
-
-
-
1Loss-
DUSP15-
-
-
-
6Amp-
DUSP26-
-
-
-
0Del-
DUSP4-
-
-
-
0Del-
DUSP6-
-
-
-
1Loss-
DUT-
-
-
-
1Loss-
DVL1-
-
-
-
1Loss-
DVL2-
-
-
-
1Loss-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC2H1-
-
-
-
20Amp-
DYNLRB1-
-
-
-
3Gain-
DYRK2-
-
-
-
15Amp-
DZANK1-
-
-
-
3Gain-
DZIP1-
-
-
-
3Gain-
E2F1-
-
-
-
3Gain-
E2F2-
-
-
-
1Loss-
E2F5-
-
-
-
3Gain-
E2F7-
-
-
-
1Loss-
EBAG9-
-
-
-
3Gain-
EBF2-
-
-
-
0Del-
EBF4-
-
-
-
3Gain-
EBNA1BP2-
-
-
-
1Loss-
EBPL-
-
-
-
3Gain-
ECE1-
-
-
-
1Loss-
ECHDC2-
-
-
-
1Loss-
EDC3-
-
-
-
1Loss-
EDEM2-
-
-
-
3Gain-
EDIL3-
-
-
-
1Loss-
EDN2-
-
-
-
1Loss-
EDN3-
-
-
-
3Gain-
EDNRB-
-
-
-
3Gain-
EEA1-
-
-
-
1Loss-
EED-
-
-
-
7Amp-
EEF1A1-
-
-
-
3GainAC093512.2--EEF1A1
EEF1A1--SNORA68
EEF1A2-
-
-
-
3Gain-
EEF1AKMT1-
-
-
-
3Gain-
EEF1D-
-
-
-
3Gain-
EFCAB1-
-
-
-
3Gain-
EFCAB14-
-
-
-
1Loss-
EFCAB7-
-
-
-
1Loss-
EFCAB8-
-
-
-
3Gain-
EFHD2-
-
-
-
1Loss-
EFL1-
-
-
-
1Loss-
EFNA5-
-
-
-
1Loss-
EFNB2-
-
-
-
3Gain-
EFR3A-
-
-
-
3Gain-
EGR3-
-
-
-
0Del-
EHD4-
-
-
-
1Loss-
EI24-
-
-
-
1Loss-
EID1-
-
-
-
1Loss-
EID3-
-
-
-
1Loss-
EIF2AK4-
-
-
-
1Loss-
EIF2B1-
-
-
-
1Loss-
EIF2B3-
-
-
-
1Loss-
EIF2S2-
-
-
-
3Gain-
EIF3E-
-
-
-
3Gain-
EIF3H-
-
-
-
3Gain-
EIF3I-
-
-
-
1Loss-
EIF3J-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4G3-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
EIF6-
-
-
-
3Gain-
ELAC1-
-
-
-
1Loss-
ELAVL4-
-
-
-
1Loss-
ELF1-
-
-
-
3Gain-
ELK3-
-
-
-
1Loss-
ELL2-
-
-
-
1Loss-
ELL3-
-
-
-
1Loss-
ELMO2-
-
-
-
3Gain-
ELMOD1-
-
-
-
1Loss-
ELOA-
-
-
-
1Loss-
ELOA2-
-
-
-
1Loss-
ELOA3-
-
-
-
1Loss-
ELOA3B-
-
-
-
1Loss-
ELOA3C-
-
-
-
1Loss-
ELOA3D-
-
-
-
1Loss-
ELOC-
-
-
-
3Gain-
ELOVL1-
-
-
-
1Loss-
ELOVL7-
-
-
-
1Loss-
ELP2-
-
-
-
1Loss-
ELP3-
-
-
-
0Del-
ELP5-
-
-
-
1Loss-
EMB-
-
-
-
1Loss-
EMC1-
-
-
-
1Loss-
EMC2-
-
-
-
3Gain-
EMC4-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
EMC7-
-
-
-
1Loss-
EMILIN2-
-
-
-
0Del-
EMILIN3-
-
-
-
3Gain-
ENC1-
-
-
-
1Loss-
ENDOD1-
-
-
-
7Amp-
ENHO-
-
-
-
3Gain-
ENO1-
-
-
-
1Loss-
ENO3-
-
-
-
1Loss-
ENOSF1-
-
-
-
0Del-
ENOX1-
-
-
-
3Gain-
ENPP2-
-
-
-
3Gain-
ENTPD4-
-
-
-
0Del-
ENTPD6-
-
-
-
3Gain-
ENY2-
-
-
-
3Gain-
EP400-
-
-
-
1Loss-
EPB41-
-
-
-
1Loss-
EPB41L1-
-
-
-
3Gain-
EPB41L3-
-
-
-
0Del-
EPB41L4A-
-
-
-
1Loss-
EPB42-
-
-
-
1Loss-
EPG5-
-
-
-
1Loss-
EPHA10-
-
-
-
1Loss-
EPHA2-
-
-
-
1Loss-
EPHA8-
-
-
-
1Loss-
EPHB2-
-
-
-
1Loss-
EPHX2-
-
-
-
0Del-
EPHX4-
-
-
-
1Loss-
EPPIN-
-
-
-
3Gain-
EPPIN-WFDC6-
-
-
-
3Gain-
EPPK1-
-
-
-
3Gain-
EPS15-
-
-
-
1Loss-
EPS8L3-
-
-
-
1Loss-
EPSTI1-
-
-
-
3Gain-
EPYC-
-
-
-
1Loss-
ERAP1-
-
-
-
1Loss-
ERAP2-
-
-
-
1Loss-
ERBIN-
-
-
-
1Loss-
ERCC5-
-
-
-
3Gain-
ERCC8-
-
-
-
1Loss-
ERGIC3-
-
-
-
3Gain-
ERI1-
-
-
-
0Del-
ERI3-
-
-
-
1Loss-
ERICH1-
-
-
-
0Del-
ERICH3-
-
-
-
1Loss-
ERICH5-
-
-
-
3Gain-
ERICH6B-
-
-
-
3Gain-
ERMAP-
-
-
-
1Loss-
ERP29-
-
-
-
1Loss-
ERRFI1-
-
-
-
1Loss-
ESAM-
-
-
-
1Loss-
ESCO1-
-
-
-
1Loss-
ESCO2-
-
-
-
0Del-
ESD-
-
-
-
3Gain-
ESF1-
-
-
-
3Gain-
ESM1-
-
-
-
1Loss-
ESPN-
-
-
-
1Loss-
ESRP1-
-
-
-
3Gain-
ETFA-
-
-
-
1Loss-
ETS1-
-
-
-
1Loss-
EVA1B-
-
-
-
1Loss-
EVI5-
-
-
-
1Loss-
EXD1-
-
-
-
1Loss-
EXO5-
-
-
-
1Loss-
EXOSC10-
-
-
-
1Loss-
EXOSC4-
-
-
-
3Gain-
EXOSC8-
-
-
-
3Gain-
EXPH5-
-
-
-
1Loss-
EXT1-
-
-
-
3Gain-
EXTL1-
-
-
-
1Loss-
EXTL2-
-
-
-
1Loss-
EXTL3-
-
-
-
0Del-
EYA1-
-
-
-
3Gain-
EYA2-
-
-
-
3Gain-
EYA3-
-
-
-
1Loss-
F10-
-
-
-
3Gain-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
F3-
-
-
-
1Loss-
F7-
-
-
-
3Gain-
FAAH-
-
-
-
1Loss-
FAAP20-
-
-
-
1Loss-
FABP12-
-
-
-
3Gain-
FABP3-
-
-
-
1Loss-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP9-
-
-
-
3Gain-
FAF1-
-
-
-
1Loss-
FAH-
-
-
-
1Loss-
FAM102B-
-
-
-
1Loss-
FAM110A-
-
-
-
3Gain-
FAM110B-
-
-
-
3Gain-
FAM110D-
-
-
-
1Loss-
FAM118B-
-
-
-
1Loss-
FAM124A-
-
-
-
3Gain-
FAM131C-
-
-
-
1Loss-
FAM135B-
-
-
-
3Gain-
FAM151A-
-
-
-
1Loss-
FAM151B-
-
-
-
1Loss-
FAM155A-
-
-
-
3Gain-
FAM160B2-
-
-
-
0Del-
FAM166B-
-
-
-
3Gain-
FAM167A-
-
-
-
0Del-
FAM167B-
-
-
-
1Loss-
FAM169A-
-
-
-
1Loss-
FAM169B-
-
-
-
1Loss-
FAM170A-
-
-
-
1Loss-
FAM172A-
-
-
-
1Loss-
FAM174A-
-
-
-
1Loss-
FAM174B-
-
-
-
1Loss-
FAM183A-
-
-
-
1Loss-
FAM189A1-
-
-
-
1Loss-
FAM19A3-
-
-
-
1Loss-
FAM205A-
-
-
-
3Gain-
FAM205C-
-
-
-
3Gain-
FAM209A-
-
-
-
3Gain-
FAM209B-
-
-
-
3Gain-
FAM210A-
-
-
-
1Loss-
FAM210B-
-
-
-
3Gain-
FAM214A-
-
-
-
1Loss-
FAM214B-
-
-
-
3Gain-
FAM216A-
-
-
-
1Loss-
FAM216B-
-
-
-
3Gain-
FAM217B-
-
-
-
3Gain-
FAM219A-
-
-
-
3Gain-
FAM219B-
-
-
-
1Loss-
FAM222A-
-
-
-
1Loss-
FAM227B-
-
-
-
1Loss-
FAM229A-
-
-
-
1Loss-
FAM43B-
-
-
-
1Loss-
FAM49B-
-
-
-
3Gain-
FAM57A-
-
-
-
1Loss-
FAM69A-
-
-
-
1Loss-
FAM69C-
-
-
-
1Loss-
FAM71C-
-
-
-
1Loss-
FAM76A-
-
-
-
1Loss-
FAM76B-
-
-
-
11Amp-
FAM81A-
-
-
-
1Loss-
FAM81B-
-
-
-
1Loss-
FAM83A-
-
-
-
3Gain-
FAM83C-
-
-
-
3Gain-
FAM83D-
-
-
-
3Gain-
FAM83H-
-
-
-
3Gain-
FAM84B-
-
-
-
3Gain-
FAM86B1-
-
-
-
0Del-
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
3Gain-
FAM98B-
-
-
-
1Loss-
FAN1-
-
-
-
1Loss-
FANCG-
-
-
-
3Gain-
FANCI-
-
-
-
1Loss-
FARP1-
-
-
-
3Gain-
FASTKD5-
-
-
-
3Gain-
FAT3-
-
-
-
7Amp-
FBLIM1-
-
-
-
1Loss-
FBN1-
-
-
-
1Loss-
FBN2-
-
-
-
1Loss-
FBRSL1-
-
-
-
1Loss-
FBXL17-
-
-
-
1Loss-
FBXL22-
-
-
-
1Loss-
FBXL3-
-
-
-
3Gain-
FBXL6-
-
-
-
3Gain-
FBXO15-
-
-
-
1Loss-
FBXO16-
-
-
-
0Del-
FBXO2-
-
-
-
1Loss-
FBXO21-
-
-
-
1Loss-
FBXO22-
-
-
-
1Loss-
FBXO25-
-
-
-
0Del-
FBXO32-
-
-
-
3Gain-
FBXO39-
-
-
-
1Loss-
FBXO42-
-
-
-
1Loss-
FBXO43-
-
-
-
3Gain-
FBXO44-
-
-
-
1Loss-
FBXO6-
-
-
-
1Loss-
FBXW8-
-
-
-
1Loss-
FCGR1B-
-
-
-
1Loss-
FCHO2-
-
-
-
1Loss-
FCN3-
-
-
-
1Loss-
FDFT1-
-
-
-
0Del-
FDX1-
-
-
-
1Loss-
FDXACB1-
-
-
-
1Loss-
FECH-
-
-
-
1Loss-
FEM1B-
-
-
-
1Loss-
FEM1C-
-
-
-
1Loss-
FER-
-
-
-
1Loss-
FER1L6-
-
-
-
3Gain-
FERMT1-
-
-
-
3Gain-
FES-
-
-
-
1Loss-
FEZ1-
-
-
-
1Loss-
FGD6-
-
-
-
1Loss-
FGF11-
-
-
-
1Loss-
FGF14-
-
-
-
3Gain-
FGF17-
-
-
-
0Del-
FGF20-
-
-
-
0Del-
FGF7-
-
-
-
1Loss-
FGF9-
-
-
-
3Gain-
FGGY-
-
-
-
1Loss-
FGL1-
-
-
-
0Del-
FGR-
-
-
-
1Loss-
FHAD1-
-
-
-
1Loss-
FHL3-
-
-
-
1Loss-
FHOD3-
-
-
-
1Loss-
FICD-
-
-
-
1Loss-
FITM2-
-
-
-
3Gain-
FKBP1A-
-
-
-
3Gain-
FLI1-
-
-
-
1Loss-
FLRT3-
-
-
-
3Gain-
FLT1-
-
-
-
3Gain-
FLT3-
-
-
-
3Gain-
FMN1-
-
-
-
1Loss-
FNBP1L-
-
-
-
1Loss-
FNDC10-
-
-
-
1Loss-
FNDC11-
-
-
-
3Gain-
FNDC3A-
-
-
-
3Gain-
FNDC5-
-
-
-
1Loss-
FNDC7-
-
-
-
1Loss-
FNIP1-
-
-
-
1Loss-
FO393400.1-
-
-
-
3Gain-
FOXA2-
-
-
-
3Gain-
FOXB1-
-
-
-
1Loss-
FOXD1-
-
-
-
1Loss-
FOXD2-
-
-
-
1Loss-
FOXD3-
-
-
-
1Loss-
FOXE3-
-
-
-
1Loss-
FOXH1-
-
-
-
3Gain-
FOXJ3-
-
-
-
1Loss-
FOXN4-
-
-
-
1Loss-
FOXO1-
-
-
-
3Gain-
FOXO6-
-
-
-
1Loss-
FOXR1-
-
-
-
1Loss-
FOXRED1-
-
-
-
1Loss-
FOXS1-
-
-
-
6Amp-
FPGT-
-
-
-
1Loss-
FPGT-TNNI3K-
-
-
-
1Loss-
FREM2-
-
-
-
3Gain-
FRMD5-
-
-
-
1Loss-
FRRS1-
-
-
-
1Loss-
FRS2-
-
-
-
26Amp-
FRY-
-
-
-
3Gain-
FSBP-
-
-
-
3Gain-
FSD2-
-
-
-
1Loss-
FSIP1-
-
-
-
1Loss-
FST-
-
-
-
1Loss-
FSTL4-
-
-
-
1Loss-
FTMT-
-
-
-
1Loss-
FUBP1-
-
-
-
1Loss-
FUCA1-
-
-
-
1Loss-
FURIN-
-
-
-
1Loss-
FUT10-
-
-
-
0Del-
FUT4-
-
-
-
7Amp-
FXR2-
-
-
-
1Loss-
FXYD2-
-
-
-
1Loss-
FXYD6-
-
-
-
1Loss-
FXYD6-FXYD2-
-
-
-
1Loss-
FYB2-
-
-
-
1Loss-
FZD10-
-
-
-
1Loss-
FZD3-
-
-
-
0Del-
FZD4-
-
-
-
7Amp-
FZD6-
-
-
-
3Gain-
GABARAP-
-
-
-
1Loss-
GABPB1-
-
-
-
1Loss-
GABRA5-
-
-
-
1Loss-
GABRB3-
-
-
-
1Loss-
GABRD-
-
-
-
1Loss-
GABRG3-
-
-
-
1Loss-
GADD45A-
-
-
-
1Loss-
GALE-
-
-
-
1Loss-
GALK2-
-
-
-
1Loss-
GALNT1-
-
-
-
1Loss-
GALNT9-
-
-
-
1Loss-
GALR1-
-
-
-
1Loss-
GALT-
-
-
-
3Gain-
GANC-
-
-
-
1Loss-
GAPT-
-
-
-
1Loss-
GAREM1-
-
-
-
1Loss-
GAS2L3-
-
-
-
1Loss-
GAS6-
-
-
-
3Gain-
GATA4-
-
-
-
0Del-
GATA5-
-
-
-
3Gain-
GATA6-
-
-
-
1Loss-
GATC-
-
-
-
1Loss-
GATM-
-
-
-
1Loss-
GBP1-
-
-
-
1Loss-
GBP2-
-
-
-
1Loss-
GBP3-
-
-
-
1Loss-
GBP4-
-
-
-
1Loss-
GBP5-
-
-
-
1Loss-
GBP6-
-
-
-
1Loss-
GBP7-
-
-
-
1Loss-
GCHFR-
-
-
-
1Loss-
GCLM-
-
-
-
1Loss-
GCN1-
-
-
-
1Loss-
GCNT3-
-
-
-
1Loss-
GCNT4-
-
-
-
1Loss-
GCNT7-
-
-
-
3Gain-
GCOM1-
-
-
-
1Loss-
GDAP1-
-
-
-
3Gain-
GDAP1L1-
-
-
-
3Gain-
GDAP2-
-
-
-
1Loss-
GDF5-
-
-
-
3Gain-
GDF6-
-
-
-
3Gain-
GDF9-
-
-
-
1Loss-
GDPGP1-
-
-
-
1Loss-
GEM-
-
-
-
3Gain-
GEMIN4-
-
-
-
1Loss-
GFI1-
-
-
-
1Loss-
GFM2-
-
-
-
1Loss-
GFRA2-
-
-
-
0Del-
GFRA4-
-
-
-
3Gain-
GGACT-
-
-
-
3Gain-
GGH-
-
-
-
3Gain-
GGT6-
-
-
-
1Loss-
GGT7-
-
-
-
3Gain-
GGTLC1-
-
-
-
3Gain-
GHRH-
-
-
-
3Gain-
GID8-
-
-
-
3Gain-
GIN1-
-
-
-
1Loss-
GINS1-
-
-
-
3Gain-
GIPC2-
-
-
-
1Loss-
GIT2-
-
-
-
1Loss-
GJA3-
-
-
-
3Gain-
GJA4-
-
-
-
1Loss-
GJA9-
-
-
-
1Loss-
GJA9-MYCBP-
-
-
-
1Loss-
GJB2-
-
-
-
3Gain-
GJB3-
-
-
-
1Loss-
GJB4-
-
-
-
1Loss-
GJB5-
-
-
-
1Loss-
GJB6-
-
-
-
3Gain-
GJD2-
-
-
-
1Loss-
GLB1L2-
-
-
-
1Loss-
GLB1L3-
-
-
-
1Loss-
GLCE-
-
-
-
1Loss-
GLDN-
-
-
-
1Loss-
GLI4-
-
-
-
3Gain-
GLIPR1-
-
-
-
1Loss-
GLIPR1L1-
-
-
-
1Loss-
GLIPR1L2-
-
-
-
1Loss-
GLIS1-
-
-
-
1Loss-
GLIS3-
-
-
-
3Gain-
GLMN-
-
-
-
1Loss-
GLOD4-
-
-
-
1Loss-
GLRX-
-
-
-
1Loss-
GLT1D1-
-
-
-
1Loss-
GLT8D2-
-
-
-
1Loss-
GLTP-
-
-
-
1Loss-
GLTPD2-
-
-
-
1Loss-
GMEB1-
-
-
-
1Loss-
GMEB2-
-
-
-
3Gain-
GML-
-
-
-
3Gain-
GNAI3-
-
-
-
1Loss-
GNAL-
-
-
-
1Loss-
GNAS-
-
-
-
3Gain-
GNAT2-
-
-
-
1Loss-
GNB1-
-
-
-
1Loss-
GNB5-
-
-
-
1Loss-
GNG12-
-
-
-
1Loss-
GNG5-
-
-
-
1Loss-
GNL2-
-
-
-
1Loss-
GNPTAB-
-
-
-
1Loss-
GNRH1-
-
-
-
0Del-
GNRH2-
-
-
-
3Gain-
GOLGA3-
-
-
-
1Loss-
GOLGA6A-
-
-
-
1Loss-
GOLGA6B-
-
-
-
1Loss-
GOLGA6C-
-
-
-
1Loss-
GOLGA6D-
-
-
-
1Loss-
GOLGA6L1-
-
-
-
1Loss-
GOLGA6L10-
-
-
-
1Loss-
GOLGA6L2-
-
-
-
1Loss-
GOLGA6L7-
-
-
-
1Loss-
GOLGA8A-
-
-
-
1Loss-
GOLGA8B-
-
-
-
1Loss-
GOLGA8F-
-
-
-
1Loss-
GOLGA8G-
-
-
-
1Loss-
GOLGA8H-
-
-
-
1Loss-
GOLGA8J-
-
-
-
1Loss-
GOLGA8K-
-
-
-
1Loss-
GOLGA8M-
-
-
-
1Loss-
GOLGA8N-
-
-
-
1Loss-
GOLGA8O-
-
-
-
1Loss-
GOLGA8Q-
-
-
-
1Loss-
GOLGA8R-
-
-
-
1Loss-
GOLGA8S-
-
-
-
1Loss-
GOLGA8T-
-
-
-
1Loss-
GP1BA-
-
-
-
1Loss-
GPAA1-
-
-
-
3Gain-
GPALPP1-
-
-
-
3Gain-
GPATCH3-
-
-
-
1Loss-
GPBP1-
-
-
-
1Loss-
GPBP1L1-
-
-
-
1Loss-
GPC5-
-
-
-
3Gain-
GPC6-
-
-
-
3Gain-
GPCPD1-
-
-
-
3Gain-
GPIHBP1-
-
-
-
3Gain-
GPN2-
-
-
-
1Loss-
GPN3-
-
-
-
1Loss-
GPR12-
-
-
-
3Gain-
GPR150-
-
-
-
1Loss-
GPR153-
-
-
-
1Loss-
GPR157-
-
-
-
1Loss-
GPR176-
-
-
-
1Loss-
GPR18-
-
-
-
3Gain-
GPR180-
-
-
-
3Gain-
GPR183-
-
-
-
3Gain-
GPR20-
-
-
-
3Gain-
GPR3-
-
-
-
1Loss-
GPR61-
-
-
-
1Loss-
GPR83-
-
-
-
7Amp-
GPR88-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPSM2-
-
-
-
1Loss-
GPT-
-
-
-
3Gain-
GPX7-
-
-
-
1Loss-
GPX8-
-
-
-
1Loss-
GRAMD1B-
-
-
-
1Loss-
GRAMD2A-
-
-
-
1Loss-
GRAMD2B-
-
-
-
1Loss-
GREB1L-
-
-
-
1Loss-
GREM1-
-
-
-
1Loss-
GRHL2-
-
-
-
3Gain-
GRHL3-
-
-
-
1Loss-
GRIA4-
-
-
-
1Loss-
GRIK3-
-
-
-
1Loss-
GRIK4-
-
-
-
1Loss-
GRINA-
-
-
-
3Gain-
GRIP1-
-
-
-
15Amp-
GRK1-
-
-
-
3Gain-
GRM5-
-
-
-
7Amp-
GRP-
-
-
-
1Loss-
GRTP1-
-
-
-
3Gain-
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
3Gain-
GSR-
-
-
-
0Del-
GSS-
-
-
-
3Gain-
GSTM1-
-
-
-
1Loss-
GSTM2-
-
-
-
1Loss-
GSTM3-
-
-
-
1Loss-
GSTM4-
-
-
-
1Loss-
GSTM5-
-
-
-
1Loss-
GSX1-
-
-
-
3Gain-
GTF2A2-
-
-
-
1Loss-
GTF2B-
-
-
-
1Loss-
GTF2E2-
-
-
-
0Del-
GTF2F2-
-
-
-
3Gain-
GTF2H2-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF2H3-
-
-
-
1Loss-
GTF3A-
-
-
-
3Gain-
GTSF1L-
-
-
-
3Gain-
GUCA2A-
-
-
-
1Loss-
GUCA2B-
-
-
-
1Loss-
GUCY1A2-
-
-
-
1Loss-
GZF1-
-
-
-
3Gain-
GZMA-
-
-
-
1Loss-
GZMK-
-
-
-
1Loss-
H2AFX-
-
-
-
1Loss-
H2AFY-
-
-
-
1Loss-
H6PD-
-
-
-
1Loss-
HACD3-
-
-
-
1Loss-
HAL-
-
-
-
1Loss-
HAO1-
-
-
-
3Gain-
HAO2-
-
-
-
1Loss-
HAPLN1-
-
-
-
1Loss-
HAPLN3-
-
-
-
1Loss-
HAS2-
-
-
-
3Gain-
HASPIN-
-
-
-
1Loss-
HAUS1-
-
-
-
1Loss-
HAUS2-
-
-
-
1Loss-
HCAR1-
-
-
-
1Loss-
HCAR2-
-
-
-
1Loss-
HCAR3-
-
-
-
1Loss-
HCFC2-
-
-
-
1Loss-
HCK-
-
-
-
11Amp-
HCN4-
-
-
-
1Loss-
HCRTR1-
-
-
-
1Loss-
HDAC1-
-
-
-
1Loss-
HDC-
-
-
-
1Loss-
HDDC3-
-
-
-
1Loss-
HDGFL3-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HECTD3-
-
-
-
1Loss-
HECTD4-
-
-
-
1Loss-
HELB-
-
-
-
15Amp-
HELZ2-
-
-
-
3Gain-
HENMT1-
-
-
-
1Loss-
HEPACAM-
-
-
-
1Loss-
HEPHL1-
-
-
-
7Amp-
HEPN1-
-
-
-
1Loss-
HERC1-
-
-
-
1Loss-
HERC2-
-
-
-
1Loss-
HES2-
-
-
-
1Loss-
HES3-
-
-
-
1Loss-
HES4-
-
-
-
1Loss-
HES5-
-
-
-
1Loss-
HEXA-
-
-
-
1Loss-
HEXB-
-
-
-
1Loss-
HEY1-
-
-
-
3Gain-
HEYL-
-
-
-
1Loss-
HFM1-
-
-
-
1Loss-
HGH1-
-
-
-
3Gain-
HHLA1-
-
-
-
3Gain-
HHLA3-
-
-
-
1Loss-
HIC1-
-
-
-
1Loss-
HIGD2B-
-
-
-
1Loss-
HIKESHI-
-
-
-
7Amp-
HINFP-
-
-
-
1Loss-
HINT1-
-
-
-
1Loss-
HIP1R-
-
-
-
1Loss-
HIPK1-
-
-
-
1Loss-
HIVEP3-
-
-
-
1Loss-
HM13-
-
-
-
6Amp-
HMBOX1-
-
-
-
0Del-
HMBS-
-
-
-
1Loss-
HMG20A-
-
-
-
1Loss-
HMGA2-
-
-
-
15Amp-
HMGB1-
-
-
-
3Gain-
HMGB4-
-
-
-
1Loss-
HMGCL-
-
-
-
1Loss-
HMGCR-
-
-
-
1Loss-
HMGCS2-
-
-
-
1Loss-
HMGN2-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HNF1A-
-
-
-
1Loss-
HNF4A-
-
-
-
3Gain-
HNF4G-
-
-
-
3Gain-
HNRNPCL1-
-
-
-
1Loss-
HNRNPCL2-
-
-
-
1Loss-
HNRNPCL3-
-
-
-
1Loss-
HNRNPCL4-
-
-
-
1Loss-
HNRNPR-
-
-
-
1Loss-
HOMER1-
-
-
-
1Loss-
HOMER2-
-
-
-
1Loss-
HOOK1-
-
-
-
1Loss-
HP1BP3-
-
-
-
1Loss-
HPCA-
-
-
-
1Loss-
HPCAL4-
-
-
-
1Loss-
HPD-
-
-
-
1Loss-
HPDL-
-
-
-
1Loss-
HR-
-
-
-
0Del-
HRH3-
-
-
-
3Gain-
HRH4-
-
-
-
1Loss-
HS2ST1-
-
-
-
1Loss-
HS6ST3-
-
-
-
3Gain-
HSBP1L1-
-
-
-
1Loss-
HSD17B4-
-
-
-
1Loss-
HSD3B1-
-
-
-
1Loss-
HSD3B2-
-
-
-
1Loss-
HSF1-
-
-
-
3Gain-
HSP90AB1-
-
-
-
2-HSP90AB1--RNA5-8SN2
HSP90B1-
-
-
-
1Loss-
HSPA12B-
-
-
-
3Gain-
HSPA4-
-
-
-
1Loss-
HSPA8-
-
-
-
1Loss-
HSPB11-
-
-
-
1Loss-
HSPB2-
-
-
-
1Loss-
HSPB2-C11orf52-
-
-
-
1Loss-
HSPB3-
-
-
-
1Loss-
HSPB7-
-
-
-
1Loss-
HSPB8-
-
-
-
1Loss-
HSPG2-
-
-
-
1Loss-
HSPH1-
-
-
-
3Gain-
HTR1A-
-
-
-
1Loss-
HTR1D-
-
-
-
1Loss-
HTR2A-
-
-
-
3Gain-
HTR3A-
-
-
-
1Loss-
HTR3B-
-
-
-
1Loss-
HTR6-
-
-
-
1Loss-
HVCN1-
-
-
-
1Loss-
HYI-
-
-
-
1Loss-
HYKK-
-
-
-
1Loss-
HYLS1-
-
-
-
1Loss-
HYOU1-
-
-
-
1Loss-
HYPK-
-
-
-
1Loss-
ICE2-
-
-
-
1Loss-
ICMT-
-
-
-
1Loss-
ID1-
-
-
-
6Amp-
ID3-
-
-
-
1Loss-
IDH2-
-
-
-
1Loss-
IDH3A-
-
-
-
1Loss-
IDH3B-
-
-
-
3Gain-
IER3IP1-
-
-
-
1Loss-
IFFO2-
-
-
-
1Loss-
IFI44-
-
-
-
1Loss-
IFI44L-
-
-
-
1Loss-
IFI6-
-
-
-
1Loss-
IFNG-
-
-
-
15Amp-
IFNLR1-
-
-
-
1Loss-
IFT46-
-
-
-
1Loss-
IFT52-
-
-
-
3Gain-
IFT81-
-
-
-
1Loss-
IFT88-
-
-
-
3Gain-
IGDCC3-
-
-
-
1Loss-
IGDCC4-
-
-
-
1Loss-
IGF1-
-
-
-
1Loss-
IGF1R-
-
-
-
1Loss-
IGSF21-
-
-
-
1Loss-
IGSF3-
-
-
-
1Loss-
IGSF9B-
-
-
-
1Loss-
IKBIP-
-
-
-
1Loss-
IL10RA-
-
-
-
1Loss-
IL11RA-
-
-
-
3Gain-
IL12RB2-
-
-
-
1Loss-
IL13-
-
-
-
1Loss-
IL16-
-
-
-
1Loss-
IL18-
-
-
-
1Loss-
IL22-
-
-
-
15Amp-
IL22RA1-
-
-
-
1Loss-
IL23R-
-
-
-
1Loss-
IL26-
-
-
-
15Amp-
IL3-
-
-
-
1Loss-
IL31-
-
-
-
1Loss-
IL31RA-
-
-
-
1Loss-
IL4-
-
-
-
1Loss-
IL5-
-
-
-
1Loss-
IL6ST-
-
-
-
1Loss-
IL7-
-
-
-
3Gain-
IL9-
-
-
-
1Loss-
ILF2-
-
-
-
2-ILF2--RNA5-8SN2
IMP3-
-
-
-
1Loss-
IMPA1-
-
-
-
3Gain-
IMPA2-
-
-
-
1Loss-
IMPACT-
-
-
-
1Loss-
IMPAD1-
-
-
-
3Gain-
INCA1-
-
-
-
1Loss-
ING1-
-
-
-
3Gain-
INKA2-
-
-
-
1Loss-
INO80-
-
-
-
1Loss-
INO80C-
-
-
-
1Loss-
INPP5B-
-
-
-
1Loss-
INPP5K-
-
-
-
1Loss-
INSL4-
-
-
-
3Gain-
INSL5-
-
-
-
1Loss-
INSL6-
-
-
-
3Gain-
INSM1-
-
-
-
3Gain-
INSYN1-
-
-
-
1Loss-
INTS10-
-
-
-
0Del-
INTS11-
-
-
-
1Loss-
INTS14-
-
-
-
1Loss-
INTS6-
-
-
-
3Gain-
INTS8-
-
-
-
3Gain-
INTS9-
-
-
-
0Del-
IPO11-
-
-
-
1Loss-
IPO13-
-
-
-
1Loss-
IPO5-
-
-
-
3Gain-
IPP-
-
-
-
1Loss-
IQANK1-
-
-
-
3Gain-
IQCC-
-
-
-
1Loss-
IQCD-
-
-
-
1Loss-
IQCH-
-
-
-
1Loss-
IQGAP1-
-
-
-
1Loss-
IQGAP2-
-
-
-
1Loss-
IRAK3-
-
-
-
15Amp-
IREB2-
-
-
-
1Loss-
IRF1-
-
-
-
1Loss-
IRS2-
-
-
-
3Gain-
ISCU-
-
-
-
1Loss-
ISG15-
-
-
-
1Loss-
ISG20-
-
-
-
1Loss-
ISL1-
-
-
-
1Loss-
ISL2-
-
-
-
1Loss-
ISLR-
-
-
-
1Loss-
ISLR2-
-
-
-
1Loss-
ISM1-
-
-
-
3Gain-
ISOC1-
-
-
-
1Loss-
ITCH-
-
-
-
3Gain-
ITGA1-
-
-
-
3Gain-
ITGA11-
-
-
-
1Loss-
ITGA2-
-
-
-
3Gain-
ITGAE-
-
-
-
1Loss-
ITGB3BP-
-
-
-
1Loss-
ITGBL1-
-
-
-
3Gain-
ITM2B-
-
-
-
3Gain-
ITPA-
-
-
-
3Gain-
ITPKA-
-
-
-
1Loss-
IVD-
-
-
-
1Loss-
IZUMO1R-
-
-
-
7Amp-
JADE2-
-
-
-
1Loss-
JAG1-
-
-
-
3Gain-
JAK1-
-
-
-
1Loss-
JAK2-
-
-
-
3Gain-
JAM3-
-
-
-
1Loss-
JAML-
-
-
-
1Loss-
JHY-
-
-
-
1Loss-
JMJD7-
-
-
-
1Loss-
JMJD7-PLA2G4B-
-
-
-
1Loss-
JMY-
-
-
-
1Loss-
JPH1-
-
-
-
3Gain-
JPH2-
-
-
-
3Gain-
JRK-
-
-
-
3Gain-
JRKL-
-
-
-
11Amp-
JUN-
-
-
-
1Loss-
KANK4-
-
-
-
1Loss-
KAT14-
-
-
-
3Gain-
KATNAL1-
-
-
-
3Gain-
KATNAL2-
-
-
-
1Loss-
KATNBL1-
-
-
-
1Loss-
KAZN-
-
-
-
1Loss-
KBTBD11-
-
-
-
0Del-
KBTBD11-OT1-
-
-
-
0Del-
KBTBD13-
-
-
-
1Loss-
KBTBD3-
-
-
-
1Loss-
KBTBD6-
-
-
-
3Gain-
KBTBD7-
-
-
-
3Gain-
KCNA10-
-
-
-
1Loss-
KCNA2-
-
-
-
1Loss-
KCNA3-
-
-
-
1Loss-
KCNAB2-
-
-
-
1Loss-
KCNB1-
-
-
-
3Gain-
KCNB2-
-
-
-
3Gain-
KCNC2-
-
-
-
1Loss-
KCNC4-
-
-
-
1Loss-
KCND3-
-
-
-
1Loss-
KCNG1-
-
-
-
3Gain-
KCNG2-
-
-
-
1Loss-
KCNJ1-
-
-
-
1Loss-
KCNJ5-
-
-
-
1Loss-
KCNK15-
-
-
-
3Gain-
KCNK9-
-
-
-
3Gain-
KCNMB4-
-
-
-
9Amp-
KCNN2-
-
-
-
1Loss-
KCNQ2-
-
-
-
3Gain-
KCNQ3-
-
-
-
3Gain-
KCNQ4-
-
-
-
1Loss-
KCNRG-
-
-
-
3Gain-
KCNS1-
-
-
-
3Gain-
KCNS2-
-
-
-
3Gain-
KCNV1-
-
-
-
3Gain-
KCNV2-
-
-
-
3Gain-
KCTD1-
-
-
-
1Loss-
KCTD10-
-
-
-
1Loss-
KCTD11-
-
-
-
1Loss-
KCTD12-
-
-
-
3Gain-
KCTD4-
-
-
-
3Gain-
KCTD9-
-
-
-
0Del-
KDELC1-
-
-
-
3Gain-
KDELC2-
-
-
-
1Loss-
KDF1-
-
-
-
1Loss-
KDM1A-
-
-
-
1Loss-
KDM2B-
-
-
-
1Loss-
KDM4A-
-
-
-
1Loss-
KDM4D-
-
-
-
7Amp-
KDM4E-
-
-
-
7Amp-
KDM4F-
-
-
-
7Amp-
KDSR-
-
-
-
1Loss-
KERA-
-
-
-
1Loss-
KHDC1-
-
-
-
3Gain-
KHDC1L-
-
-
-
3Gain-
KHDC3L-
-
-
-
3Gain-
KHDRBS1-
-
-
-
1Loss-
KHDRBS3-
-
-
-
3Gain-
KIAA0319L-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA0825-
-
-
-
1Loss-
KIAA1024-
-
-
-
1Loss-
KIAA1024L-
-
-
-
1Loss-
KIAA1324-
-
-
-
1Loss-
KIAA1328-
-
-
-
1Loss-
KIAA1522-
-
-
-
1Loss-
KIAA1755-
-
-
-
3Gain-
KIAA2013-
-
-
-
1Loss-
KIF13B-
-
-
-
0Del-
KIF16B-
-
-
-
3Gain-
KIF17-
-
-
-
1Loss-
KIF19p.R978H
Missense
SNP
0.371
2--
KIF1B-
-
-
-
1Loss-
KIF1C-
-
-
-
1Loss-
KIF23-
-
-
-
1Loss-
KIF24-
-
-
-
3Gain-
KIF2A-
-
-
-
1Loss-
KIF2C-
-
-
-
1Loss-
KIF3A-
-
-
-
1Loss-
KIF3B-
-
-
-
11Amp-
KIF7-
-
-
-
1Loss-
KIFC2-
-
-
-
3Gain-
KIRREL3-
-
-
-
1Loss-
KITLG-
-
-
-
1Loss-
KIZ-
-
-
-
3Gain-
KL-
-
-
-
3Gain-
KLF10-
-
-
-
3Gain-
KLF12-
-
-
-
3Gain-
KLF13-
-
-
-
1Loss-
KLF17-
-
-
-
1Loss-
KLF5-
-
-
-
3Gain-
KLHDC7A-
-
-
-
1Loss-
KLHL1-
-
-
-
3Gain-
KLHL14-
-
-
-
1Loss-
KLHL17-
-
-
-
1Loss-
KLHL21-
-
-
-
1Loss-
KLHL25-
-
-
-
1Loss-
KLHL38-
-
-
-
3Gain-
KMT2A-
-
-
-
1Loss-
KMT5A-
-
-
-
1Loss-
KNCN-
-
-
-
1Loss-
KNL1-
-
-
-
1Loss-
KNSTRN-
-
-
-
1Loss-
KNTC1-
-
-
-
1Loss-
KPNA3-
-
-
-
3Gain-
KPNA6-
-
-
-
1Loss-
KRR1-
-
-
-
1Loss-
KSR2-
-
-
-
1Loss-
KTI12-
-
-
-
1Loss-
KYAT3-
-
-
-
1Loss-
L1TD1-
-
-
-
1Loss-
L3MBTL1-
-
-
-
3Gain-
L3MBTL4-
-
-
-
1Loss-
LACC1-
-
-
-
3Gain-
LACTB-
-
-
-
1Loss-
LACTB2-
-
-
-
3Gain-
LACTBL1-
-
-
-
1Loss-
LAMA1-
-
-
-
1Loss-
LAMA3-
-
-
-
1Loss-
LAMA5-
-
-
-
3Gain-
LAMP1-
-
-
-
3Gain-
LAMP5-
-
-
-
3Gain-
LAMTOR5-
-
-
-
1Loss-
LAPTM4B-
-
-
-
3Gain-
LAPTM5-
-
-
-
1Loss-
LARP6-
-
-
-
1Loss-
LATS2-
-
-
-
3Gain-
LAYN-
-
-
-
1Loss-
LBP-
-
-
-
3Gain-
LCK-
-
-
-
1Loss-
LCMT2-
-
-
-
1Loss-
LCP1-
-
-
-
3Gain-
LCTL-
-
-
-
1Loss-
LDHAL6B-
-
-
-
1Loss-
LDLRAD1-
-
-
-
1Loss-
LDLRAD2-
-
-
-
1Loss-
LDLRAD4-
-
-
-
1Loss-
LDLRAP1-
-
-
-
1Loss-
LEAP2-
-
-
-
1Loss-
LECT2-
-
-
-
1Loss-
LEO1-
-
-
-
1Loss-
LEPR-
-
-
-
1Loss-
LEPROT-
-
-
-
1Loss-
LEPROTL1-
-
-
-
0Del-
LEXM-
-
-
-
1Loss-
LGI3-
-
-
-
0Del-
LGR5-
-
-
-
6Amp-
LHFPL2-
-
-
-
1Loss-
LHFPL6-
-
-
-
3Gain-
LHX5-
-
-
-
1Loss-
LHX8-
-
-
-
1Loss-
LIG4-
-
-
-
3Gain-
LIME1-
-
-
-
3Gain-
LIN28A-
-
-
-
1Loss-
LIN7A-
-
-
-
1Loss-
LINGO1-
-
-
-
1Loss-
LINS1-
-
-
-
1Loss-
LIPC-
-
-
-
1Loss-
LIPG-
-
-
-
1Loss-
LIX1-
-
-
-
1Loss-
LKAAEAR1-
-
-
-
3Gain-
LLPH-
-
-
-
15Amp-
LMAN1-
-
-
-
1Loss-
LMAN1L-
-
-
-
1Loss-
LMNB1-
-
-
-
1Loss-
LMO4-
-
-
-
1Loss-
LMO7-
-
-
-
3Gain-
LNPEP-
-
-
-
1Loss-
LNX2-
-
-
-
3Gain-
LONRF1-
-
-
-
0Del-
LOX-
-
-
-
1Loss-
LOXHD1-
-
-
-
1Loss-
LOXL1-
-
-
-
1Loss-
LOXL2-
-
-
-
0Del-
LPAR3-
-
-
-
1Loss-
LPAR6-
-
-
-
3Gain-
LPCAT4-
-
-
-
1Loss-
LPIN2-
-
-
-
0Del-
LPIN3-
-
-
-
3Gain-
LPL-
-
-
-
0Del-
LRCH1-
-
-
-
3Gain-
LRCOL1-
-
-
-
1Loss-
LRIF1-
-
-
-
1Loss-
LRIG2-
-
-
-
1Loss-
LRP12-
-
-
-
3Gain-
LRP8-
-
-
-
1Loss-
LRRC10-
-
-
-
26Amp-
LRRC14-
-
-
-
3Gain-
LRRC24-
-
-
-
3Gain-
LRRC28-
-
-
-
1Loss-
LRRC30-
-
-
-
1Loss-
LRRC38-
-
-
-
1Loss-
LRRC39-
-
-
-
1Loss-
LRRC40-
-
-
-
1Loss-
LRRC41-
-
-
-
1Loss-
LRRC42-
-
-
-
1Loss-
LRRC43-
-
-
-
1Loss-
LRRC47-
-
-
-
1Loss-
LRRC49-
-
-
-
1Loss-
LRRC53-
-
-
-
1Loss-
LRRC57-
-
-
-
1Loss-
LRRC6-
-
-
-
3Gain-
LRRC63-
-
-
-
3Gain-
LRRC69-
-
-
-
3Gain-
LRRC7-
-
-
-
1Loss-
LRRC70-
-
-
-
1Loss-
LRRC8B-
-
-
-
1Loss-
LRRC8C-
-
-
-
1Loss-
LRRC8D-
-
-
-
1Loss-
LRRCC1-
-
-
-
3Gain-
LRRIQ1-
-
-
-
1Loss-
LRRIQ3-
-
-
-
1Loss-
LRRK1-
-
-
-
1Loss-
LRRN4-
-
-
-
3Gain-
LSM10-
-
-
-
1Loss-
LSM14B-
-
-
-
3Gain-
LTA4H-
-
-
-
1Loss-
LTK-
-
-
-
1Loss-
LUM-
-
-
-
1Loss-
LURAP1-
-
-
-
1Loss-
LUZP1-
-
-
-
1Loss-
LVRN-
-
-
-
1Loss-
LY6D-
-
-
-
3Gain-
LY6E-
-
-
-
3Gain-
LY6H-
-
-
-
3Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
3Gain-
LY96-
-
-
-
3Gain-
LYN-
-
-
-
3Gain-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD2-
-
-
-
3Gain-
LYPLA1-
-
-
-
3Gain-
LYPLA2-
-
-
-
1Loss-
LYRM7-
-
-
-
1Loss-
LYSMD2-
-
-
-
1Loss-
LYSMD3-
-
-
-
1Loss-
LYSMD4-
-
-
-
1Loss-
LYZ-
-
-
-
26Amp-
LZIC-
-
-
-
1Loss-
LZTS1-
-
-
-
0Del-
LZTS3-
-
-
-
3Gain-
MAB21L1-
-
-
-
3Gain-
MAB21L3-
-
-
-
1Loss-
MACF1-
-
-
-
1Loss-
MACO1-
-
-
-
1Loss-
MACROD2-
-
-
-
3Gain-
MAD2L2-
-
-
-
1Loss-
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAFB-
-
-
-
3Gain-
MAGEL2-
-
-
-
1Loss-
MAGI3-
-
-
-
1Loss-
MAGOH-
-
-
-
1Loss-
MAK16-
-
-
-
0Del-
MAL2-
-
-
-
3Gain-
MALT1-
-
-
-
1Loss-
MAML2-
-
-
-
11Amp-
MAN1A2-
-
-
-
1Loss-
MAN1C1-
-
-
-
1Loss-
MAN2A1-
-
-
-
1Loss-
MAN2A2-
-
-
-
1Loss-
MAN2C1-
-
-
-
1Loss-
MANBAL-
-
-
-
3Gain-
MANEAL-
-
-
-
1Loss-
MAP1A-
-
-
-
1Loss-
MAP1B-
-
-
-
1Loss-
MAP1LC3A-
-
-
-
3Gain-
MAP1LC3B2-
-
-
-
1Loss-
MAP2K1-
-
-
-
1Loss-
MAP2K5-
-
-
-
1Loss-
MAP3K1-
-
-
-
1Loss-
MAP3K6-
-
-
-
1Loss-
MAP7D1-
-
-
-
1Loss-
MAPK15-
-
-
-
3Gain-
MAPK4-
-
-
-
1Loss-
MAPK6-
-
-
-
1Loss-
MAPKAPK5-
-
-
-
1Loss-
MAPKBP1-
-
-
-
1Loss-
MAPRE1-
-
-
-
3Gain-
MAPRE2-
-
-
-
1Loss-
MARCH3-
-
-
-
1Loss-
MARCKSL1-
-
-
-
1Loss-
MARVELD2-
-
-
-
1Loss-
MASP2-
-
-
-
1Loss-
MAST2-
-
-
-
1Loss-
MAST4-
-
-
-
1Loss-
MATKp.E339*
Nonsense
SNP
0.262
2--
MATN1-
-
-
-
1Loss-
MATN2-
-
-
-
3Gain-
MATN4-
-
-
-
3Gain-
MAVS-
-
-
-
3Gain-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBLAC2-
-
-
-
1Loss-
MBNL2-
-
-
-
3Gain-
MBOAT4-
-
-
-
0Del-
MBP-
-
-
-
1Loss-
MC2R-
-
-
-
1Loss-
MC3R-
-
-
-
3Gain-
MC4R-
-
-
-
1Loss-
MC5R-
-
-
-
1Loss-
MCAM-
-
-
-
1Loss-
MCC-
-
-
-
1Loss-
MCCC2-
-
-
-
1Loss-
MCF2L-
-
-
-
3Gain-
MCIDAS-
-
-
-
1Loss-
MCM4-
-
-
-
3Gain-
MCM8-
-
-
-
3Gain-
MCMDC2-
-
-
-
3Gain-
MCOLN2-
-
-
-
1Loss-
MCOLN3-
-
-
-
1Loss-
MCPH1-
-
-
-
0Del-
MCTP1-
-
-
-
1Loss-
MCTP2-
-
-
-
1Loss-
MDM1-
-
-
-
15Amp-
MDM2-
-
-
-
26Amp-
ME2-
-
-
-
1Loss-
ME3-
-
-
-
7Amp-
MEAF6-
-
-
-
1Loss-
MECR-
-
-
-
1Loss-
MED11-
-
-
-
1Loss-
MED13L-
-
-
-
1Loss-
MED17-
-
-
-
7Amp-
MED18-
-
-
-
1Loss-
MED30-
-
-
-
3Gain-
MED31-
-
-
-
1Loss-
MED4-
-
-
-
3Gain-
MED8-
-
-
-
1Loss-
MEDAG-
-
-
-
3Gain-
MEF2A-
-
-
-
1Loss-
MEF2C-
-
-
-
1Loss-
MEGF10-
-
-
-
1Loss-
MEGF11-
-
-
-
1Loss-
MEGF6-
-
-
-
1Loss-
MEIS2-
-
-
-
1Loss-
MEP1B-
-
-
-
1Loss-
MESD-
-
-
-
1Loss-
MESP1-
-
-
-
1Loss-
MESP2-
-
-
-
1Loss-
METAP2-
-
-
-
1Loss-
METTL16-
-
-
-
1Loss-
METTL21C-
-
-
-
3Gain-
METTL25-
-
-
-
1Loss-
METTL4-
-
-
-
0Del-
MEX3B-
-
-
-
1Loss-
MEX3C-
-
-
-
1Loss-
MFAP1-
-
-
-
1Loss-
MFAP2-
-
-
-
1Loss-
MFGE8-
-
-
-
1Loss-
MFHAS1-
-
-
-
0Del-
MFN2-
-
-
-
1Loss-
MFRP-
-
-
-
1Loss-
MFSD14A-
-
-
-
1Loss-
MFSD2A-
-
-
-
1Loss-
MFSD3-
-
-
-
3Gain-
MGA-
-
-
-
1Loss-
MGAT4C-
-
-
-
1Loss-
MGME1-
-
-
-
3Gain-
MIB1-
-
-
-
1Loss-
MIB2-
-
-
-
1Loss-
MICU2-
-
-
-
3Gain-
MICU3-
-
-
-
0Del-
MIER1-
-
-
-
1Loss-
MIER3-
-
-
-
1Loss-
MIGA1-
-
-
-
1Loss-
MIIP-
-
-
-
1Loss-
MINDY2-
-
-
-
1Loss-
MINK1-
-
-
-
1Loss-
MINOS1-
-
-
-
1Loss-
MINOS1-NBL1-
-
-
-
1Loss-
MIPEP-
-
-
-
3Gain-
MIS12-
-
-
-
1Loss-
MKKS-
-
-
-
3Gain-
MKNK1-
-
-
-
1Loss-
MKRN3-
-
-
-
1Loss-
MLEC-
-
-
-
1Loss-
MLNR-
-
-
-
3Gain-
MLXIP-
-
-
-
1Loss-
MMAB-
-
-
-
1Loss-
MMACHC-
-
-
-
1Loss-
MMEL1-
-
-
-
1Loss-
MMP1-
-
-
-
19Amp-
MMP10-
-
-
-
19Amp-
MMP12-
-
-
-
27Amp-
MMP13-
-
-
-
27Amp-
MMP16-
-
-
-
3Gain-
MMP17-
-
-
-
1Loss-
MMP20-
-
-
-
19Amp-
MMP23B-
-
-
-
1Loss-
MMP24-
-
-
-
3Gain-
MMP27-
-
-
-
19Amp-
MMP3-
-
-
-
19Amp-
MMP7-
-
-
-
19Amp-
MMP8-
-
-
-
19Amp-
MMP9-
-
-
-
3Gain-
MNS1-
-
-
-
1Loss-
MNT-
-
-
-
1Loss-
MOB3C-
-
-
-
1Loss-
MOCOS-
-
-
-
1Loss-
MOCS2-
-
-
-
3Gain-
MOCS3-
-
-
-
3Gain-
MORF4L1-
-
-
-
1Loss-
MORN1-
-
-
-
1Loss-
MORN3-
-
-
-
1Loss-
MOS-
-
-
-
3Gain-
MOV10-
-
-
-
1Loss-
MPDU1-
-
-
-
1Loss-
MPHOSPH8-
-
-
-
3Gain-
MPHOSPH9-
-
-
-
1Loss-
MPI-
-
-
-
1Loss-
MPL-
-
-
-
1Loss-
MPPE1-
-
-
-
1Loss-
MPZL2-
-
-
-
1Loss-
MPZL3-
-
-
-
1Loss-
MRE11-
-
-
-
7Amp-
MRGBP-
-
-
-
3Gain-
MRM3-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH1-
-
-
-
3Gain-
MROH5-
-
-
-
3Gain-
MROH6-
-
-
-
3Gain-
MROH7-
-
-
-
1Loss-
MROH7-TTC4-
-
-
-
1Loss-
MROH8-
-
-
-
3Gain-
MRPL13-
-
-
-
3Gain-
MRPL15-
-
-
-
3Gain-
MRPL20-
-
-
-
1Loss-
MRPL37-
-
-
-
1Loss-
MRPL42-
-
-
-
1Loss-
MRPL46-
-
-
-
1Loss-
MRPL57-
-
-
-
3Gain-
MRPS11-
-
-
-
1Loss-
MRPS15-
-
-
-
1Loss-
MRPS26-
-
-
-
3Gain-
MRPS27-
-
-
-
1Loss-
MRPS28-
-
-
-
3Gain-
MRPS31-
-
-
-
3Gain-
MRPS36-
-
-
-
1Loss-
MRTO4-
-
-
-
1Loss-
MSANTD2-
-
-
-
1Loss-
MSANTD4-
-
-
-
1Loss-
MSC-
-
-
-
3Gain-
MSH3-
-
-
-
1Loss-
MSH4-
-
-
-
1Loss-
MSI1-
-
-
-
1Loss-
MSR1-
-
-
-
0Del-
MSRA-
-
-
-
0Del-
MSRB3-
-
-
-
15Amp-
MTBP-
-
-
-
3Gain-
MTCL1-
-
-
-
1Loss-
MTDH-
-
-
-
3Gain-
MTERF2-
-
-
-
1Loss-
MTERF3-
-
-
-
3Gain-
MTF1-
-
-
-
1Loss-
MTF2-
-
-
-
1Loss-
MTFMT-
-
-
-
1Loss-
MTFR1-
-
-
-
3Gain-
MTFR1L-
-
-
-
1Loss-
MTG2-
-
-
-
3Gain-
MTHFR-
-
-
-
1Loss-
MTHFS-
-
-
-
1Loss-
MTIF3-
-
-
-
3Gain-
MTMR10-
-
-
-
1Loss-
MTMR2-
-
-
-
11Amp-
MTMR6-
-
-
-
3Gain-
MTMR7-
-
-
-
0Del-
MTMR9-
-
-
-
0Del-
MTNR1B-
-
-
-
7Amp-
MTO1-
-
-
-
3Gain-
MTOR-
-
-
-
1Loss-
MTREX-
-
-
-
1Loss-
MTRF1-
-
-
-
3Gain-
MTSS1-
-
-
-
3Gain-
MTUS1-
-
-
-
0Del-
MTUS2-
-
-
-
3Gain-
MTX3-
-
-
-
1Loss-
MUC4p.M1535I
Missense
SNP
0.250
2--
MUC6p.S1414G
Missense
SNP
0.241
2--
MUL1-
-
-
-
1Loss-
MUTYH-
-
-
-
1Loss-
MVK-
-
-
-
1Loss-
MXRA8-
-
-
-
1Loss-
MYBBP1A-
-
-
-
1Loss-
MYBL1-
-
-
-
3Gain-
MYBL2-
-
-
-
3Gain-
MYBPC1-
-
-
-
1Loss-
MYBPHL-
-
-
-
1Loss-
MYC-
-
-
-
3Gain-
MYCBP-
-
-
-
1Loss-
MYCBP2-
-
-
-
3Gain-
MYCL-
-
-
-
1Loss-
MYEF2-
-
-
-
1Loss-
MYF5-
-
-
-
1Loss-
MYF6-
-
-
-
1Loss-
MYH7p.R1268C
Missense
SNP
0.455
2--
MYH7B-
-
-
-
3Gain-
MYL12A-
-
-
-
0Del-
MYL12B-
-
-
-
0Del-
MYL2-
-
-
-
1Loss-
MYL9-
-
-
-
3Gain-
MYLK2-
-
-
-
6Amp-
MYO16-
-
-
-
3Gain-
MYO1C-
-
-
-
1Loss-
MYO1E-
-
-
-
1Loss-
MYO1H-
-
-
-
1Loss-
MYO5A-
-
-
-
1Loss-
MYO5B-
-
-
-
1Loss-
MYO5C-
-
-
-
1Loss-
MYO9A-
-
-
-
1Loss-
MYOM1-
-
-
-
0Del-
MYOM2-
-
-
-
0Del-
MYOM3-
-
-
-
1Loss-
MYORG-
-
-
-
3Gain-
MYRFL-
-
-
-
9Amp-
MYSM1-
-
-
-
1Loss-
MYT1-
-
-
-
3Gain-
MYZAP-
-
-
-
1Loss-
MZT1-
-
-
-
3Gain-
N4BP2L1-
-
-
-
3Gain-
N4BP2L2-
-
-
-
3Gain-
NAA16-
-
-
-
3Gain-
NAA20-
-
-
-
3Gain-
NAA25-
-
-
-
1Loss-
NAALAD2-
-
-
-
7Amp-
NADK-
-
-
-
1Loss-
NAIP-
-
-
-
1Loss-
NALCN-
-
-
-
3Gain-
NANOGP8-
-
-
-
1Loss-
NANP-
-
-
-
3Gain-
NAP1L1-
-
-
-
1Loss-
NAPB-
-
-
-
3Gain-
NAPG-
-
-
-
1Loss-
NAPRT-
-
-
-
3Gain-
NARS-
-
-
-
1Loss-
NASP-
-
-
-
1Loss-
NAT1-
-
-
-
0Del-
NAT2-
-
-
-
0Del-
NAV3-
-
-
-
1Loss-
NAXD-
-
-
-
3Gain-
NBEA-
-
-
-
3Gain-
NBL1-
-
-
-
1Loss-
NBN-
-
-
-
3Gain-
NBPF1-
-
-
-
1Loss-
NBPF26-
-
-
-
1Loss-
NBPF3-
-
-
-
1Loss-
NBPF4-
-
-
-
1Loss-
NBPF6-
-
-
-
1Loss-
NCALD-
-
-
-
3Gain-
NCAM1-
-
-
-
1Loss-
NCAPD3-
-
-
-
1Loss-
NCBP3-
-
-
-
1Loss-
NCDN-
-
-
-
1Loss-
NCMAP-
-
-
-
1Loss-
NCOA2-
-
-
-
3Gain-
NCOA3-
-
-
-
3Gain-
NCOA5-
-
-
-
3Gain-
NCOA6-
-
-
-
3Gain-
NCOR2-
-
-
-
1Loss-
NDC1-
-
-
-
1Loss-
NDC80-
-
-
-
0Del-
NDFIP2-
-
-
-
3Gain-
NDN-
-
-
-
1Loss-
NDRG1-
-
-
-
3Gain-
NDRG3-
-
-
-
3Gain-
NDUFA12-
-
-
-
1Loss-
NDUFAF1-
-
-
-
1Loss-
NDUFAF2-
-
-
-
1Loss-
NDUFAF5-
-
-
-
3Gain-
NDUFAF6-
-
-
-
3Gain-
NDUFB6-
-
-
-
3Gain-
NDUFB9-
-
-
-
3Gain-
NDUFS4-
-
-
-
1Loss-
NDUFS5-
-
-
-
1Loss-
NDUFV2-
-
-
-
1Loss-
NECAB1-
-
-
-
3Gain-
NECAB3-
-
-
-
3Gain-
NECAP2-
-
-
-
1Loss-
NECTIN1-
-
-
-
1Loss-
NEDD1-
-
-
-
1Loss-
NEDD4-
-
-
-
1Loss-
NEDD4L-
-
-
-
1Loss-
NEFL-
-
-
-
0Del-
NEFM-
-
-
-
0Del-
NEGR1-
-
-
-
1Loss-
NEIL1-
-
-
-
1Loss-
NEIL2-
-
-
-
0Del-
NEK3-
-
-
-
3Gain-
NEK5-
-
-
-
3Gain-
NELFCD-
-
-
-
3Gain-
NEO1-
-
-
-
1Loss-
NETO1-
-
-
-
1Loss-
NEURL2-
-
-
-
3Gain-
NEURL4-
-
-
-
1Loss-
NEUROG1-
-
-
-
1Loss-
NEXN-
-
-
-
1Loss-
NFATC1-
-
-
-
1Loss-
NFATC2-
-
-
-
3Gain-
NFIA-
-
-
-
1Loss-
NFRKB-
-
-
-
1Loss-
NFS1-
-
-
-
3Gain-
NFX1-
-
-
-
3Gain-
NFYB-
-
-
-
1Loss-
NFYC-
-
-
-
1Loss-
NGF-
-
-
-
1Loss-
NGRN-
-
-
-
1Loss-
NHLH2-
-
-
-
1Loss-
NHLRC3-
-
-
-
3Gain-
NINL-
-
-
-
3Gain-
NIPA1-
-
-
-
1Loss-
NIPA2-
-
-
-
1Loss-
NIPAL2-
-
-
-
3Gain-
NIPAL3-
-
-
-
1Loss-
NKAIN1-
-
-
-
1Loss-
NKAIN3-
-
-
-
3Gain-
NKAIN4-
-
-
-
3Gain-
NKAPD1-
-
-
-
1Loss-
NKX2-2-
-
-
-
3Gain-
NKX2-4-
-
-
-
3Gain-
NKX2-6-
-
-
-
0Del-
NKX3-1-
-
-
-
0Del-
NLGN2-
-
-
-
1Loss-
NLN-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NLRX1-
-
-
-
1Loss-
NMB-
-
-
-
1Loss-
NMNAT1-
-
-
-
1Loss-
NNAT-
-
-
-
3Gain-
NNMT-
-
-
-
1Loss-
NOC2L-
-
-
-
1Loss-
NOC4L-
-
-
-
1Loss-
NOL4-
-
-
-
1Loss-
NOL4L-
-
-
-
3Gain-
NOL6-
-
-
-
3Gain-
NOL9-
-
-
-
1Loss-
NOP10-
-
-
-
1Loss-
NOP56-
-
-
-
3Gain-
NOS1-
-
-
-
1Loss-
NOTCH2-
-
-
-
1Loss-
NOTCH3p.R2078W
Missense
SNP
0.476
2--
NOV-
-
-
-
3Gain-
NOX4-
-
-
-
7Amp-
NOX5-
-
-
-
1Loss-
NPAP1-
-
-
-
1Loss-
NPAT-
-
-
-
1Loss-
NPBWR1-
-
-
-
3Gain-
NPBWR2-
-
-
-
3Gain-
NPC1-
-
-
-
1Loss-
NPEPL1-
-
-
-
3Gain-
NPHP4-
-
-
-
1Loss-
NPM2-
-
-
-
0Del-
NPPA-
-
-
-
1Loss-
NPPB-
-
-
-
1Loss-
NPTN-
-
-
-
1Loss-
NR0B2-
-
-
-
1Loss-
NR1H4-
-
-
-
1Loss-
NR2C1-
-
-
-
1Loss-
NR2E3-
-
-
-
1Loss-
NR2F1-
-
-
-
1Loss-
NR2F2-
-
-
-
1Loss-
NRAS-
-
-
-
1Loss-
NRBP2-
-
-
-
3Gain-
NRDC-
-
-
-
1Loss-
NREP-
-
-
-
1Loss-
NRG1-
-
-
-
0Del-
NRG4-
-
-
-
1Loss-
NRGN-
-
-
-
1Loss-
NRSN2-
-
-
-
3Gain-
NSA2-
-
-
-
1Loss-
NSFL1C-
-
-
-
3Gain-
NSMAF-
-
-
-
3Gain-
NSMCE2-
-
-
-
3Gain-
NSMCE3-
-
-
-
1Loss-
NSUN4-
-
-
-
1Loss-
NT5C1A-
-
-
-
1Loss-
NT5DC3-
-
-
-
1Loss-
NTM-
-
-
-
1Loss-
NTN4-
-
-
-
1Loss-
NTNG1-
-
-
-
1Loss-
NTRK3-
-
-
-
1Loss-
NTS-
-
-
-
1Loss-
NTSR1-
-
-
-
3Gain-
NUAK1-
-
-
-
1Loss-
NUDC-
-
-
-
1Loss-
NUDCD1-
-
-
-
3Gain-
NUDT12-
-
-
-
1Loss-
NUDT15-
-
-
-
3Gain-
NUDT18-
-
-
-
0Del-
NUDT2-
-
-
-
3Gain-
NUDT4-
-
-
-
1Loss-
NUFIP1-
-
-
-
3Gain-
NUGGC-
-
-
-
0Del-
NUP107-
-
-
-
15Amp-
NUP37-
-
-
-
1Loss-
NUP58-
-
-
-
3Gain-
NUP88-
-
-
-
1Loss-
NUSAP1-
-
-
-
1Loss-
NUTM1-
-
-
-
1Loss-
NXN-
-
-
-
1Loss-
NXPE1-
-
-
-
1Loss-
NXPE2-
-
-
-
1Loss-
NXPE4-
-
-
-
1Loss-
NXT1-
-
-
-
3Gain-
OAF-
-
-
-
1Loss-
OAS1-
-
-
-
1Loss-
OAS2-
-
-
-
1Loss-
OAS3-
-
-
-
1Loss-
OASL-
-
-
-
1Loss-
OAZ2-
-
-
-
1Loss-
OC90-
-
-
-
3Gain-
OCA2-
-
-
-
1Loss-
OCLN-
-
-
-
1Loss-
OCSTAMP-
-
-
-
3Gain-
ODF1-
-
-
-
3Gain-
ODF2L-
-
-
-
1Loss-
ODF3L1-
-
-
-
1Loss-
OGFOD2-
-
-
-
1Loss-
OGFR-
-
-
-
3Gain-
OIP5-
-
-
-
1Loss-
OLFM3-
-
-
-
1Loss-
OLFM4-
-
-
-
3Gain-
OLFML3-
-
-
-
1Loss-
OMA1-
-
-
-
1Loss-
ONECUT1-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
OOEP-
-
-
-
3Gain-
OPCML-
-
-
-
1Loss-
OPLAH-
-
-
-
3Gain-
OPRD1-
-
-
-
1Loss-
OPRK1-
-
-
-
3Gain-
OPRL1-
-
-
-
3Gain-
OR10AG1p.A194V
Missense
SNP
0.225
2--
OR10D3-
-
-
-
1Loss-
OR10G4-
-
-
-
1Loss-
OR10G7-
-
-
-
1Loss-
OR10G8-
-
-
-
1Loss-
OR10G9-
-
-
-
1Loss-
OR10S1-
-
-
-
1Loss-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4D5-
-
-
-
1Loss-
OR4F15-
-
-
-
1Loss-
OR4F4-
-
-
-
1Loss-
OR4F6-
-
-
-
1Loss-
OR4M2-
-
-
-
1Loss-
OR6M1-
-
-
-
1Loss-
OR6T1-
-
-
-
1Loss-
OR6X1-
-
-
-
1Loss-
OR8A1-
-
-
-
1Loss-
OR8B12-
-
-
-
1Loss-
OR8B2-
-
-
-
1Loss-
OR8B3-
-
-
-
1Loss-
OR8B4-
-
-
-
1Loss-
OR8B8-
-
-
-
1Loss-
OR8D1-
-
-
-
1Loss-
OR8D2-
-
-
-
1Loss-
OR8D4-
-
-
-
1Loss-
OR8G1-
-
-
-
1Loss-
OR8G5-
-
-
-
1Loss-
ORAI1-
-
-
-
1Loss-
ORC1-
-
-
-
1Loss-
OSBPL1A-
-
-
-
1Loss-
OSBPL2-
-
-
-
3Gain-
OSBPL8-
-
-
-
1Loss-
OSBPL9-
-
-
-
1Loss-
OSCP1-
-
-
-
1Loss-
OSER1-
-
-
-
3Gain-
OSGIN2-
-
-
-
3Gain-
OSR2-
-
-
-
3Gain-
OTOGL-
-
-
-
1Loss-
OTOR-
-
-
-
3Gain-
OTP-
-
-
-
1Loss-
OTUD3-
-
-
-
1Loss-
OTUD6B-
-
-
-
3Gain-
OTUD7A-
-
-
-
1Loss-
OVCA2-
-
-
-
1Loss-
OVGP1-
-
-
-
1Loss-
OVOL2-
-
-
-
3Gain-
OXCT2-
-
-
-
1Loss-
OXGR1-
-
-
-
3Gain-
OXR1-
-
-
-
3Gain-
OXT-
-
-
-
3Gain-
P2RX1-
-
-
-
1Loss-
P2RX2-
-
-
-
1Loss-
P2RX4-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RX7-
-
-
-
1Loss-
P3H1-
-
-
-
1Loss-
P4HA2-
-
-
-
1Loss-
PABPC1-
-
-
-
3Gain-
PABPC1L-
-
-
-
3Gain-
PABPC3-
-
-
-
3Gain-
PABPC4-
-
-
-
1Loss-
PABPC4Lp.V100I
Missense
SNP
0.312
2--
PADI1-
-
-
-
1Loss-
PADI2-
-
-
-
1Loss-
PADI3-
-
-
-
1Loss-
PADI4-
-
-
-
1Loss-
PADI6-
-
-
-
1Loss-
PAFAH1B1-
-
-
-
1Loss-
PAFAH1B2-
-
-
-
1Loss-
PAFAH2-
-
-
-
1Loss-
PAG1-
-
-
-
3Gain-
PAH-
-
-
-
1Loss-
PAK5-
-
-
-
3Gain-
PAK6-
-
-
-
1Loss-
PALMD-
-
-
-
1Loss-
PAM-
-
-
-
1Loss-
PAN3-
-
-
-
3Gain-
PANK2-
-
-
-
3Gain-
PANK4-
-
-
-
1Loss-
PANX1-
-
-
-
7Amp-
PANX3-
-
-
-
1Loss-
PAQR5-
-
-
-
1Loss-
PAQR7-
-
-
-
1Loss-
PARD6B-
-
-
-
3Gain-
PARD6G-
-
-
-
1Loss-
PARK7-
-
-
-
1Loss-
PARP10-
-
-
-
3Gain-
PARP16-
-
-
-
1Loss-
PARP4-
-
-
-
3Gain-
PARP6-
-
-
-
1Loss-
PARP8-
-
-
-
1Loss-
PARPBP-
-
-
-
1Loss-
PARS2-
-
-
-
1Loss-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PATJ-
-
-
-
1Loss-
PATL2-
-
-
-
1Loss-
PAWR-
-
-
-
1Loss-
PAX1-
-
-
-
3Gain-
PAX7-
-
-
-
1Loss-
PBK-
-
-
-
0Del-
PCBD2-
-
-
-
1Loss-
PCCA-
-
-
-
3Gain-
PCDH17-
-
-
-
3Gain-
PCDH19p.E287K
Missense
SNP
0.236
NDND-
PCDH20-
-
-
-
3Gain-
PCDH8-
-
-
-
3Gain-
PCDH9-
-
-
-
3Gain-
PCDHB10p.R792Q
Missense
SNP
0.322
2--
PCED1A-
-
-
-
3Gain-
PCID2-
-
-
-
3Gain-
PCIF1-
-
-
-
3Gain-
PCK1-
-
-
-
3Gain-
PCLAF-
-
-
-
1Loss-
PCM1-
-
-
-
0Del-
PCMTD1-
-
-
-
3Gain-
PCMTD2-
-
-
-
3Gain-
PCNA-
-
-
-
3Gain-
PCSK1-
-
-
-
1Loss-
PCSK2-
-
-
-
3Gain-
PCSK6-
-
-
-
1Loss-
PCSK7-
-
-
-
1Loss-
PCSK9-
-
-
-
1Loss-
PDCD7-
-
-
-
1Loss-
PDE4B-
-
-
-
1Loss-
PDE4D-
-
-
-
1Loss-
PDE7A-
-
-
-
3Gain-
PDE8A-
-
-
-
1Loss-
PDE8B-
-
-
-
1Loss-
PDGFD-
-
-
-
1Loss-
PDGFRL-
-
-
-
0Del-
PDIA3-
-
-
-
1Loss-
PDIK1L-
-
-
-
1Loss-
PDLIM2-
-
-
-
0Del-
PDLIM4-
-
-
-
1Loss-
PDP1-
-
-
-
3Gain-
PDPN-
-
-
-
1Loss-
PDRG1-
-
-
-
11Amp-
PDS5B-
-
-
-
3Gain-
PDX1-
-
-
-
3Gain-
PDYN-
-
-
-
3Gain-
PDZD3-
-
-
-
1Loss-
PDZK1IP1-
-
-
-
1Loss-
PEAK1-
-
-
-
1Loss-
PEBP1-
-
-
-
1Loss-
PEBP4-
-
-
-
0Del-
PEF1-
-
-
-
1Loss-
PELO-
-
-
-
3Gain-
PELP1-
-
-
-
1Loss-
PENK-
-
-
-
3Gain-
PER3-
-
-
-
1Loss-
PERM1-
-
-
-
1Loss-
PET117-
-
-
-
3Gain-
PEX10-
-
-
-
1Loss-
PEX11A-
-
-
-
1Loss-
PEX14-
-
-
-
1Loss-
PEX2-
-
-
-
3Gain-
PFDN4-
-
-
-
3Gain-
PFN1-
-
-
-
1Loss-
PGAM5-
-
-
-
1Loss-
PGBD4-
-
-
-
1Loss-
PGD-
-
-
-
1Loss-
PGGT1B-
-
-
-
1Loss-
PGM1-
-
-
-
1Loss-
PGPEP1L-
-
-
-
1Loss-
PGR-
-
-
-
25Amp-
PHACTR3-
-
-
-
3Gain-
PHACTR4-
-
-
-
1Loss-
PHAX-
-
-
-
1Loss-
PHC2-
-
-
-
1Loss-
PHETA1-
-
-
-
1Loss-
PHF11-
-
-
-
3Gain-
PHF13-
-
-
-
1Loss-
PHF20-
-
-
-
3Gain-
PHF20L1-
-
-
-
3Gain-
PHF23-
-
-
-
1Loss-
PHF24-
-
-
-
3Gain-
PHGDH-
-
-
-
1Loss-
PHGR1-
-
-
-
1Loss-
PHLDA1-
-
-
-
1Loss-
PHLDB1-
-
-
-
1Loss-
PHLPP1-
-
-
-
1Loss-
PHTF1-
-
-
-
1Loss-
PHYHIP-
-
-
-
0Del-
PI15-
-
-
-
3Gain-
PI3-
-
-
-
3Gain-
PIAS1-
-
-
-
1Loss-
PIAS2-
-
-
-
1Loss-
PIBF1-
-
-
-
3Gain-
PICALM-
-
-
-
7Amp-
PIEZO2-
-
-
-
1Loss-
PIF1-
-
-
-
1Loss-
PIFO-
-
-
-
1Loss-
PIGB-
-
-
-
1Loss-
PIGK-
-
-
-
1Loss-
PIGN-
-
-
-
1Loss-
PIGO-
-
-
-
3Gain-
PIGT-
-
-
-
3Gain-
PIGU-
-
-
-
3Gain-
PIGV-
-
-
-
1Loss-
PIH1D2-
-
-
-
1Loss-
PIK3C3-
-
-
-
1Loss-
PIK3CD-
-
-
-
1Loss-
PIK3R1-
-
-
-
1Loss-
PIK3R3-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PINK1-
-
-
-
1Loss-
PINX1-
-
-
-
0Del-
PIP4P2-
-
-
-
3Gain-
PITHD1-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNM2-
-
-
-
1Loss-
PITPNM3-
-
-
-
1Loss-
PITX1-
-
-
-
1Loss-
PIWIL1-
-
-
-
1Loss-
PIWIL2-
-
-
-
0Del-
PIWIL4-
-
-
-
7Amp-
PJA2-
-
-
-
1Loss-
PKHD1L1-
-
-
-
3Gain-
PKIA-
-
-
-
3Gain-
PKIG-
-
-
-
3Gain-
PKM-
-
-
-
1Loss-
PKN2-
-
-
-
1Loss-
PKNOX2-
-
-
-
1Loss-
PLA2G1B-
-
-
-
1Loss-
PLA2G2A-
-
-
-
1Loss-
PLA2G2C-
-
-
-
1Loss-
PLA2G2D-
-
-
-
1Loss-
PLA2G2E-
-
-
-
1Loss-
PLA2G2F-
-
-
-
1Loss-
PLA2G4B-
-
-
-
1Loss-
PLA2G4D-
-
-
-
1Loss-
PLA2G4E-
-
-
-
1Loss-
PLA2G4F-
-
-
-
1Loss-
PLA2G5-
-
-
-
1Loss-
PLAG1-
-
-
-
3Gain-
PLAGL2-
-
-
-
11Amp-
PLBD2-
-
-
-
1Loss-
PLCB1-
-
-
-
3Gain-
PLCB2-
-
-
-
1Loss-
PLCB4-
-
-
-
3Gain-
PLCG1-
-
-
-
3Gain-
PLCH2-
-
-
-
1Loss-
PLD2-
-
-
-
1Loss-
PLEC-
-
-
-
3Gain-
PLEKHF2-
-
-
-
3Gain-
PLEKHG5-
-
-
-
1Loss-
PLEKHG7-
-
-
-
1Loss-
PLEKHM2-
-
-
-
1Loss-
PLEKHN1-
-
-
-
1Loss-
PLEKHO2-
-
-
-
1Loss-
PLET1-
-
-
-
1Loss-
PLIN1-
-
-
-
1Loss-
PLK2-
-
-
-
1Loss-
PLK3-
-
-
-
1Loss-
PLOD1-
-
-
-
1Loss-
PLPP1-
-
-
-
1Loss-
PLPP3-
-
-
-
1Loss-
PLPP6-
-
-
-
3Gain-
PLPPR4-
-
-
-
1Loss-
PLPPR5-
-
-
-
1Loss-
PLSCR3-
-
-
-
1Loss-
PLTP-
-
-
-
3Gain-
PLXNC1-
-
-
-
1Loss-
PMAIP1-
-
-
-
1Loss-
PMCH-
-
-
-
1Loss-
PMEPA1-
-
-
-
3Gain-
PML-
-
-
-
1Loss-
PMP2-
-
-
-
3Gain-
PNMA2-
-
-
-
0Del-
PNOC-
-
-
-
0Del-
PNRC2-
-
-
-
1Loss-
POC1B-
-
-
-
1Loss-
POC1B-GALNT4-
-
-
-
1Loss-
POC5-
-
-
-
1Loss-
PODN-
-
-
-
1Loss-
POFUT1-
-
-
-
11Amp-
POLE-
-
-
-
1Loss-
POLG-
-
-
-
1Loss-
POLI-
-
-
-
1Loss-
POLK-
-
-
-
1Loss-
POLR1D-
-
-
-
3Gain-
POLR2A-
-
-
-
1Loss-
POLR2K-
-
-
-
3Gain-
POLR2M-
-
-
-
1Loss-
POLR3B-
-
-
-
1Loss-
POLR3D-
-
-
-
0Del-
POLR3F-
-
-
-
3Gain-
POLR3G-
-
-
-
1Loss-
POMGNT1-
-
-
-
1Loss-
POMP-
-
-
-
3Gain-
POP1-
-
-
-
3Gain-
POP5-
-
-
-
1Loss-
POSTN-
-
-
-
3Gain-
POTEB-
-
-
-
1Loss-
POTEB2-
-
-
-
1Loss-
POTEB3-
-
-
-
1Loss-
POTEC-
-
-
-
1Loss-
POU2AF1-
-
-
-
1Loss-
POU2F3-
-
-
-
1Loss-
POU3F1-
-
-
-
1Loss-
POU4F1-
-
-
-
3Gain-
POU5F1B-
-
-
-
3Gain-
POU5F2-
-
-
-
1Loss-
PPCDC-
-
-
-
1Loss-
PPCS-
-
-
-
1Loss-
PPDPF-
-
-
-
3Gain-
PPDPFL-
-
-
-
3Gain-
PPFIA2-
-
-
-
1Loss-
PPIB-
-
-
-
1Loss-
PPIC-
-
-
-
1Loss-
PPIE-
-
-
-
1Loss-
PPIH-
-
-
-
1Loss-
PPIP5K1-
-
-
-
1Loss-
PPIP5K2-
-
-
-
1Loss-
PPM1J-
-
-
-
1Loss-
PPP1CC-
-
-
-
1Loss-
PPP1R12A-
-
-
-
1Loss-
PPP1R14D-
-
-
-
1Loss-
PPP1R16A-
-
-
-
3Gain-
PPP1R16B-
-
-
-
3Gain-
PPP1R3B-
-
-
-
0Del-
PPP1R3D-
-
-
-
3Gain-
PPP1R42-
-
-
-
3Gain-
PPP1R8-
-
-
-
1Loss-
PPP2CA-
-
-
-
1Loss-
PPP2CB-
-
-
-
0Del-
PPP2R1B-
-
-
-
1Loss-
PPP2R2A-
-
-
-
0Del-
PPP3CC-
-
-
-
0Del-
PPP4R1-
-
-
-
1Loss-
PPT1-
-
-
-
1Loss-
PPTC7-
-
-
-
1Loss-
PPWD1-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PQLC2-
-
-
-
1Loss-
PRAG1-
-
-
-
0Del-
PRAMEF1-
-
-
-
1Loss-
PRAMEF11-
-
-
-
1Loss-
PRAMEF12-
-
-
-
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-
PRAMEF8-
-
-
-
1Loss-
PRAMEF9-
-
-
-
1Loss-
PRC1-
-
-
-
1Loss-
PRDM10-
-
-
-
1Loss-
PRDM14-
-
-
-
3Gain-
PRDM16-
-
-
-
1Loss-
PRDM2-
-
-
-
1Loss-
PRDM4-
-
-
-
1Loss-
PRDM6-
-
-
-
1Loss-
PRDX1-
-
-
-
1Loss-
PRELID3A-
-
-
-
1Loss-
PRELID3B-
-
-
-
3Gain-
PREX1-
-
-
-
3Gain-
PREX2-
-
-
-
3Gain-
PRKAA2-
-
-
-
1Loss-
PRKAB1-
-
-
-
1Loss-
PRKACB-
-
-
-
1Loss-
PRKCZ-
-
-
-
1Loss-
PRKDC-
-
-
-
3Gain-
PRMT6-
-
-
-
1Loss-
PRND-
-
-
-
3Gain-
PRNP-
-
-
-
3Gain-
PROCR-
-
-
-
3Gain-
PROK1-
-
-
-
1Loss-
PROKR2-
-
-
-
3Gain-
PROSER1-
-
-
-
3Gain-
PROZ-
-
-
-
3Gain-
PRPF38A-
-
-
-
1Loss-
PRPF38B-
-
-
-
1Loss-
PRPF6-
-
-
-
3Gain-
PRPF8-
-
-
-
1Loss-
PRR16-
-
-
-
1Loss-
PRR23D1-
-
-
-
0Del-
PRR23D2-
-
-
-
0Del-
PRRC1-
-
-
-
1Loss-
PRSS23-
-
-
-
7Amp-
PRSS3-
-
-
-
3Gain-
PRSS55-
-
-
-
0Del-
PRTG-
-
-
-
1Loss-
PRXL2B-
-
-
-
1Loss-
PSCA-
-
-
-
3Gain-
PSD3-
-
-
-
0Del-
PSKH2-
-
-
-
3Gain-
PSMA4-
-
-
-
1Loss-
PSMA5-
-
-
-
1Loss-
PSMA7-
-
-
-
3Gain-
PSMA8-
-
-
-
1Loss-
PSMB2-
-
-
-
1Loss-
PSMB6-
-
-
-
1Loss-
PSMD9-
-
-
-
1Loss-
PSMF1-
-
-
-
3Gain-
PSMG2-
-
-
-
1Loss-
PSPC1-
-
-
-
3Gain-
PSRC1-
-
-
-
1Loss-
PSTPIP1-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTAFR-
-
-
-
1Loss-
PTBP2-
-
-
-
1Loss-
PTCD2-
-
-
-
1Loss-
PTCH2-
-
-
-
1Loss-
PTDSS1-
-
-
-
3Gain-
PTGER3-
-
-
-
1Loss-
PTGFR-
-
-
-
1Loss-
PTGFRN-
-
-
-
1Loss-
PTGIS-
-
-
-
3Gain-
PTK2-
-
-
-
3Gain-
PTK2B-
-
-
-
0Del-
PTK6-
-
-
-
3Gain-
PTP4A2-
-
-
-
1Loss-
PTP4A3-
-
-
-
3Gain-
PTPN1-
-
-
-
3Gain-
PTPN11-
-
-
-
1Loss-
PTPN2-
-
-
-
1Loss-
PTPN22-
-
-
-
1Loss-
PTPN9-
-
-
-
1Loss-
PTPRA-
-
-
-
3Gain-
PTPRB-
-
-
-
9Amp-
PTPRF-
-
-
-
1Loss-
PTPRM-
-
-
-
1Loss-
PTPRQ-
-
-
-
1Loss-
PTPRR-
-
-
-
9Amp-
PTPRT-
-
-
-
3Gain-
PTPRU-
-
-
-
1Loss-
PTS-
-
-
-
1Loss-
PUF60-
-
-
-
3Gain-
PUM1-
-
-
-
1Loss-
PUM3-
-
-
-
3Gain-
PURG-
-
-
-
0Del-
PUS1-
-
-
-
1Loss-
PUS3-
-
-
-
1Loss-
PUSL1-
-
-
-
1Loss-
PWP1-
-
-
-
1Loss-
PXDNL-
-
-
-
3Gain-
PXMP2-
-
-
-
1Loss-
PXMP4-
-
-
-
3Gain-
PXN-
-
-
-
1Loss-
PYCR3-
-
-
-
3Gain-
PYGB-
-
-
-
3Gain-
PYGO1-
-
-
-
1Loss-
R3HCC1-
-
-
-
0Del-
R3HDML-
-
-
-
3Gain-
RAB11A-
-
-
-
1Loss-
RAB12-
-
-
-
1Loss-
RAB20-
-
-
-
3Gain-
RAB21-
-
-
-
6Amp-
RAB22A-
-
-
-
3Gain-
RAB27A-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB2A-
-
-
-
3Gain-
RAB31-
-
-
-
1Loss-
RAB35-
-
-
-
1Loss-
RAB38-
-
-
-
7Amp-
RAB39A-
-
-
-
1Loss-
RAB3B-
-
-
-
1Loss-
RAB3C-
-
-
-
1Loss-
RAB3IP-
-
-
-
9Amp-
RAB42-
-
-
-
1Loss-
RAB5IF-
-
-
-
3Gain-
RAB8B-
-
-
-
1Loss-
RABEP1-
-
-
-
1Loss-
RABGGTB-
-
-
-
1Loss-
RAD17-
-
-
-
1Loss-
RAD21-
-
-
-
3Gain-
RAD21L1-
-
-
-
3Gain-
RAD50-
-
-
-
1Loss-
RAD51-
-
-
-
1Loss-
RAD54B-
-
-
-
3Gain-
RAD54L-
-
-
-
1Loss-
RAD9B-
-
-
-
1Loss-
RAE1-
-
-
-
3Gain-
RALBP1-
-
-
-
1Loss-
RALGAPA2-
-
-
-
3Gain-
RALGAPB-
-
-
-
3Gain-
RALY-
-
-
-
3Gain-
RALYL-
-
-
-
3Gain-
RAMAC-
-
-
-
1Loss-
RAN-
-
-
-
1Loss-
RAP1A-
-
-
-
1Loss-
RAP1B-
-
-
-
15Amp-
RAP1GAP-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAP2A-
-
-
-
3Gain-
RAPGEF6-
-
-
-
1Loss-
RASA1-
-
-
-
1Loss-
RASA3-
-
-
-
3Gain-
RASAL1-
-
-
-
1Loss-
RASGRF1-
-
-
-
1Loss-
RASGRF2-
-
-
-
1Loss-
RASGRP1-
-
-
-
1Loss-
RASL11A-
-
-
-
3Gain-
RASL12-
-
-
-
1Loss-
RASSF2-
-
-
-
3Gain-
RASSF9-
-
-
-
1Loss-
RAVER2-
-
-
-
1Loss-
RAX-
-
-
-
1Loss-
RB1-
-
-
-
3Gain-
RB1CC1-
-
-
-
3Gain-
RBBP4-
-
-
-
1Loss-
RBBP8-
-
-
-
1Loss-
RBBP8NL-
-
-
-
3Gain-
RBBP9-
-
-
-
3Gain-
RBCK1-
-
-
-
3Gain-
RBFA-
-
-
-
1Loss-
RBL1-
-
-
-
3Gain-
RBM12-
-
-
-
3Gain-
RBM12B-
-
-
-
3Gain-
RBM15-
-
-
-
1Loss-
RBM19-
-
-
-
1Loss-
RBM26-
-
-
-
3Gain-
RBM28p.X181_splice
Splice_Site
SNP
0.277
2--
RBM38-
-
-
-
3Gain-
RBM39-
-
-
-
3Gain-
RBM7-
-
-
-
1Loss-
RBMXL1-
-
-
-
1Loss-
RBP7-
-
-
-
1Loss-
RBPJL-
-
-
-
3Gain-
RBPMS-
-
-
-
0Del-
RBPMS2-
-
-
-
1Loss-
RCAN3-
-
-
-
1Loss-
RCBTB1-
-
-
-
3Gain-
RCBTB2-
-
-
-
3Gain-
RCC1-
-
-
-
1Loss-
RCC2-
-
-
-
1Loss-
RCCD1-
-
-
-
1Loss-
RCL1-
-
-
-
3Gain-
RCN2-
-
-
-
1Loss-
RDH10-
-
-
-
3Gain-
RDX-
-
-
-
1Loss-
REC114-
-
-
-
1Loss-
RECQL4-
-
-
-
3Gain-
REEP4-
-
-
-
0Del-
REEP5-
-
-
-
1Loss-
REG4-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
REM1-
-
-
-
6Amp-
RER1-
-
-
-
1Loss-
RERE-
-
-
-
1Loss-
REXO2-
-
-
-
1Loss-
RFC3-
-
-
-
3Gain-
RFC5-
-
-
-
1Loss-
RFESD-
-
-
-
1Loss-
RFLNA-
-
-
-
1Loss-
RFLNB-
-
-
-
1Loss-
RFX3-
-
-
-
3Gain-
RFX4-
-
-
-
1Loss-
RFX7-
-
-
-
1Loss-
RFXAP-
-
-
-
3Gain-
RGCC-
-
-
-
3Gain-
RGMA-
-
-
-
1Loss-
RGMB-
-
-
-
1Loss-
RGS19-
-
-
-
3Gain-
RGS20-
-
-
-
3Gain-
RGS22-
-
-
-
3Gain-
RGS7BP-
-
-
-
1Loss-
RHBDL2-
-
-
-
1Loss-
RHCE-
-
-
-
1Loss-
RHCG-
-
-
-
1Loss-
RHD-
-
-
-
1Loss-
RHOBTB2-
-
-
-
0Del-
RHOBTB3-
-
-
-
1Loss-
RHOC-
-
-
-
1Loss-
RHOF-
-
-
-
1Loss-
RHOV-
-
-
-
1Loss-
RHPN1-
-
-
-
3Gain-
RIC8B-
-
-
-
1Loss-
RIDA-
-
-
-
3Gain-
RILP-
-
-
-
1Loss-
RILPL1-
-
-
-
1Loss-
RILPL2-
-
-
-
1Loss-
RIMBP2-
-
-
-
1Loss-
RIMKLA-
-
-
-
1Loss-
RIMS2-
-
-
-
3Gain-
RIMS3-
-
-
-
1Loss-
RIMS4-
-
-
-
3Gain-
RIN2-
-
-
-
3Gain-
RIOK2-
-
-
-
1Loss-
RIOK3-
-
-
-
1Loss-
RIPK2-
-
-
-
3Gain-
RIPOR3-
-
-
-
3Gain-
RIT2-
-
-
-
1Loss-
RITA1-
-
-
-
1Loss-
RLBP1-
-
-
-
1Loss-
RLF-
-
-
-
1Loss-
RMC1-
-
-
-
1Loss-
RMDN1-
-
-
-
3Gain-
RMDN3-
-
-
-
1Loss-
RNA5-8SN2-
-
-
-
NDNDRPS3--RNA5-8SN2
ILF2--RNA5-8SN2
HSP90AB1--RNA5-8SN2
RNA5-8SN2--CPT1A
RNASEH2B-
-
-
-
3Gain-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNF10-
-
-
-
1Loss-
RNF11-
-
-
-
1Loss-
RNF111-
-
-
-
1Loss-
RNF113B-
-
-
-
3Gain-
RNF114-
-
-
-
3Gain-
RNF122-
-
-
-
0Del-
RNF123-
-
-
-
1Loss-
RNF125-
-
-
-
1Loss-
RNF138-
-
-
-
1Loss-
RNF139-
-
-
-
3Gain-
RNF152-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF167-
-
-
-
1Loss-
RNF17-
-
-
-
3Gain-
RNF180-
-
-
-
1Loss-
RNF186-
-
-
-
1Loss-
RNF19A-
-
-
-
3Gain-
RNF19B-
-
-
-
1Loss-
RNF207-
-
-
-
1Loss-
RNF214-
-
-
-
1Loss-
RNF219-
-
-
-
3Gain-
RNF220-
-
-
-
1Loss-
RNF223-
-
-
-
1Loss-
RNF24-
-
-
-
3Gain-
RNF26-
-
-
-
1Loss-
RNF34-
-
-
-
1Loss-
RNF6-
-
-
-
3Gain-
RNFT2-
-
-
-
1Loss-
RNMT-
-
-
-
1Loss-
RNPC3-
-
-
-
1Loss-
ROBO3-
-
-
-
1Loss-
ROBO4-
-
-
-
1Loss-
ROCK1-
-
-
-
1Loss-
ROMO1-
-
-
-
3Gain-
ROR1-
-
-
-
1Loss-
RORA-
-
-
-
1Loss-
RP1-
-
-
-
3Gain-
RP1L1-
-
-
-
0Del-
RPA1-
-
-
-
1Loss-
RPA2-
-
-
-
1Loss-
RPAIN-
-
-
-
1Loss-
RPAP1-
-
-
-
1Loss-
RPAP2-
-
-
-
1Loss-
RPE65-
-
-
-
1Loss-
RPF1-
-
-
-
1Loss-
RPH3A-
-
-
-
1Loss-
RPH3AL-
-
-
-
1Loss-
RPL11-
-
-
-
1Loss-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL21-
-
-
-
3Gain-
RPL22-
-
-
-
1Loss-
RPL30-
-
-
-
3Gain-
RPL4-
-
-
-
1Loss-
RPL5-
-
-
-
1Loss-
RPL6-
-
-
-
1Loss-
RPL7-
-
-
-
3Gain-
RPL8-
-
-
-
3Gain-
RPLP0-
-
-
-
1Loss-
RPLP1-
-
-
-
1Loss-
RPN2-
-
-
-
3Gain-
RPP25-
-
-
-
1Loss-
RPP25L-
-
-
-
3Gain-
RPRD1A-
-
-
-
1Loss-
RPRD1B-
-
-
-
3Gain-
RPS17-
-
-
-
1Loss-
RPS20-
-
-
-
3Gain-
RPS21-
-
-
-
3Gain-
RPS23-
-
-
-
1Loss-
RPS25-
-
-
-
1Loss-
RPS27L-
-
-
-
1Loss-
RPS3-
-
-
-
2-RPS3--RNA5-8SN2
RPS6KA1-
-
-
-
1Loss-
RPS8-
-
-
-
1Loss-
RPUSD2-
-
-
-
1Loss-
RPUSD4-
-
-
-
1Loss-
RRAGC-
-
-
-
1Loss-
RRBP1-
-
-
-
3Gain-
RRM2B-
-
-
-
3Gain-
RRS1-
-
-
-
3Gain-
RSBN1-
-
-
-
1Loss-
RSC1A1-
-
-
-
1Loss-
RSL24D1-
-
-
-
1Loss-
RSPO1-
-
-
-
1Loss-
RSPO2-
-
-
-
3Gain-
RSPO4-
-
-
-
3Gain-
RSRC2-
-
-
-
1Loss-
RSRP1-
-
-
-
1Loss-
RTCA-
-
-
-
1Loss-
RTEL1-
-
-
-
3Gain-
RTEL1-TNFRSF6B-
-
-
-
3Gain-
RTF1-
-
-
-
1Loss-
RTF2-
-
-
-
3Gain-
RTN4RL1-
-
-
-
1Loss-
RTTN-
-
-
-
1Loss-
RUBCNL-
-
-
-
3Gain-
RUNX1T1-
-
-
-
3Gain-
RUNX3-
-
-
-
1Loss-
RUSC2-
-
-
-
3Gain-
RWDD3-
-
-
-
1Loss-
RXFP2-
-
-
-
3Gain-
RYR3-
-
-
-
1Loss-
S100PBP-
-
-
-
1Loss-
S100Z-
-
-
-
1Loss-
S1PR1-
-
-
-
1Loss-
SACS-
-
-
-
3Gain-
SALL3-
-
-
-
1Loss-
SALL4-
-
-
-
3Gain-
SAMD10-
-
-
-
3Gain-
SAMD11-
-
-
-
1Loss-
SAMD12-
-
-
-
3Gain-
SAMD13-
-
-
-
1Loss-
SAMHD1-
-
-
-
3Gain-
SAP18-
-
-
-
3Gain-
SAR1B-
-
-
-
1Loss-
SARAF-
-
-
-
0Del-
SARS-
-
-
-
1Loss-
SART3-
-
-
-
1Loss-
SASS6-
-
-
-
1Loss-
SAT2-
-
-
-
1Loss-
SAXO2-
-
-
-
1Loss-
SBNO1-
-
-
-
1Loss-
SBSPON-
-
-
-
3Gain-
SC5D-
-
-
-
1Loss-
SCAMP1-
-
-
-
1Loss-
SCAMP2-
-
-
-
1Loss-
SCAMP5-
-
-
-
1Loss-
SCAND1-
-
-
-
3Gain-
SCAPER-
-
-
-
1Loss-
SCARA3-
-
-
-
0Del-
SCARA5-
-
-
-
0Del-
SCARB1-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCEL-
-
-
-
3Gain-
SCG3-
-
-
-
1Loss-
SCG5-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCIMP-
-
-
-
1Loss-
SCMH1-
-
-
-
1Loss-
SCN2B-
-
-
-
1Loss-
SCN3B-
-
-
-
1Loss-
SCN4B-
-
-
-
1Loss-
SCNN1D-
-
-
-
1Loss-
SCP2-
-
-
-
1Loss-
SCP2D1-
-
-
-
3Gain-
SCRIB-
-
-
-
3Gain-
SCRT1-
-
-
-
3Gain-
SCRT2-
-
-
-
3Gain-
SCYL2-
-
-
-
1Loss-
SDC2-
-
-
-
3Gain-
SDC3-
-
-
-
1Loss-
SDC4-
-
-
-
3Gain-
SDCBP-
-
-
-
3Gain-
SDCBP2-
-
-
-
3Gain-
SDF4-
-
-
-
1Loss-
SDHB-
-
-
-
1Loss-
SDHD-
-
-
-
1Loss-
SDR16C5-
-
-
-
3Gain-
SDS-
-
-
-
1Loss-
SDSL-
-
-
-
1Loss-
SEC11A-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC22B-
-
-
-
1Loss-
SEC23B-
-
-
-
3Gain-
SEC24A-
-
-
-
1Loss-
SECISBP2L-
-
-
-
1Loss-
SEH1L-
-
-
-
1Loss-
SEL1L2-
-
-
-
3Gain-
SELENOF-
-
-
-
1Loss-
SELENON-
-
-
-
1Loss-
SELENOS-
-
-
-
1Loss-
SELPLG-
-
-
-
1Loss-
SEMA4B-
-
-
-
1Loss-
SEMA6A-
-
-
-
1Loss-
SEMA6D-
-
-
-
1Loss-
SEMA7A-
-
-
-
1Loss-
SEMG1-
-
-
-
3Gain-
SEMG2-
-
-
-
3Gain-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP8-
-
-
-
1Loss-
SEPT8-
-
-
-
1Loss-
SERBP1-
-
-
-
1Loss-
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERF2-
-
-
-
1Loss-
SERINC2-
-
-
-
1Loss-
SERINC3-
-
-
-
3Gain-
SERINC4-
-
-
-
1Loss-
SERINC5-
-
-
-
1Loss-
SERP2-
-
-
-
3Gain-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINE3-
-
-
-
3Gain-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERTM1-
-
-
-
3Gain-
SESN2-
-
-
-
1Loss-
SESN3-
-
-
-
7Amp-
SETBP1-
-
-
-
1Loss-
SETD1B-
-
-
-
1Loss-
SETD9-
-
-
-
1Loss-
SETDB2-
-
-
-
3Gain-
SF3A3-
-
-
-
1Loss-
SFN-
-
-
-
1Loss-
SFPQ-
-
-
-
1Loss-
SFSWAP-
-
-
-
1Loss-
SFTPC-
-
-
-
0Del-
SGCG-
-
-
-
3Gain-
SGCZ-
-
-
-
0Del-
SGIP1-
-
-
-
1Loss-
SGK2-
-
-
-
3Gain-
SGK3-
-
-
-
3Gain-
SGSM2-
-
-
-
1Loss-
SGTB-
-
-
-
1Loss-
SH2B3-
-
-
-
1Loss-
SH2D4A-
-
-
-
0Del-
SH2D5-
-
-
-
1Loss-
SH2D7-
-
-
-
1Loss-
SH3BGRL3-
-
-
-
1Loss-
SH3D21-
-
-
-
1Loss-
SH3GL3-
-
-
-
1Loss-
SH3GLB1-
-
-
-
1Loss-
SHARPIN-
-
-
-
3Gain-
SHBG-
-
-
-
1Loss-
SHC4-
-
-
-
1Loss-
SHF-
-
-
-
1Loss-
SHISA2-
-
-
-
3Gain-
SHISAL2A-
-
-
-
1Loss-
SHISAL2B-
-
-
-
1Loss-
SHLD1-
-
-
-
3Gain-
SHLD3-
-
-
-
1Loss-
SHPK-
-
-
-
1Loss-
SHROOM1-
-
-
-
1Loss-
SIAE-
-
-
-
1Loss-
SIAH3-
-
-
-
3Gain-
SIDT2-
-
-
-
1Loss-
SIGLEC1-
-
-
-
3Gain-
SIGLEC15-
-
-
-
1Loss-
SIGMAR1-
-
-
-
3Gain-
SIK2-
-
-
-
1Loss-
SIK3-
-
-
-
1Loss-
SIKE1-
-
-
-
1Loss-
SIN3A-
-
-
-
1Loss-
SIRPA-
-
-
-
3Gain-
SIRPB1-
-
-
-
3Gain-
SIRPB2-
-
-
-
3Gain-
SIRPD-
-
-
-
3Gain-
SIRPG-
-
-
-
3Gain-
SIRT4-
-
-
-
1Loss-
SIT1-
-
-
-
3Gain-
SKA1-
-
-
-
1Loss-
SKA3-
-
-
-
3Gain-
SKI-
-
-
-
1Loss-
SKOR1-
-
-
-
1Loss-
SKOR2-
-
-
-
1Loss-
SKP1-
-
-
-
1Loss-
SLA-
-
-
-
3Gain-
SLA2-
-
-
-
3Gain-
SLAIN1-
-
-
-
3Gain-
SLC10A2-
-
-
-
3Gain-
SLC10A5-
-
-
-
3Gain-
SLC12A1-
-
-
-
1Loss-
SLC12A2-
-
-
-
1Loss-
SLC12A5-
-
-
-
3Gain-
SLC12A6-
-
-
-
1Loss-
SLC13A3-
-
-
-
3Gain-
SLC13A5-
-
-
-
1Loss-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC15A1-
-
-
-
3Gain-
SLC15A4-
-
-
-
1Loss-
SLC16A1-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A4-
-
-
-
1Loss-
SLC17A5-
-
-
-
3Gain-
SLC17A8-
-
-
-
1Loss-
SLC17A9-
-
-
-
3Gain-
SLC18A1-
-
-
-
0Del-
SLC1A1-
-
-
-
3Gain-
SLC1A7-
-
-
-
1Loss-
SLC22A15-
-
-
-
1Loss-
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC23A2-
-
-
-
3Gain-
SLC24A1-
-
-
-
1Loss-
SLC24A3-
-
-
-
3Gain-
SLC24A5-
-
-
-
1Loss-
SLC25A11-
-
-
-
1Loss-
SLC25A15-
-
-
-
3Gain-
SLC25A24-
-
-
-
1Loss-
SLC25A3-
-
-
-
1Loss-
SLC25A30-
-
-
-
3Gain-
SLC25A32-
-
-
-
3Gain-
SLC25A33-
-
-
-
1Loss-
SLC25A34-
-
-
-
1Loss-
SLC25A37-
-
-
-
0Del-
SLC25A46-
-
-
-
1Loss-
SLC25A48-
-
-
-
1Loss-
SLC25A52-
-
-
-
1Loss-
SLC26A7-
-
-
-
3Gain-
SLC27A2-
-
-
-
1Loss-
SLC27A6-
-
-
-
1Loss-
SLC28A1-
-
-
-
1Loss-
SLC28A2-
-
-
-
1Loss-
SLC2A1-
-
-
-
1Loss-
SLC2A10-
-
-
-
3Gain-
SLC2A4-
-
-
-
1Loss-
SLC2A4RG-
-
-
-
3Gain-
SLC2A5-
-
-
-
1Loss-
SLC2A7-
-
-
-
1Loss-
SLC30A2-
-
-
-
1Loss-
SLC30A4-
-
-
-
1Loss-
SLC30A5-
-
-
-
1Loss-
SLC30A7-
-
-
-
1Loss-
SLC30A8-
-
-
-
3Gain-
SLC32A1-
-
-
-
3Gain-
SLC35A3-
-
-
-
1Loss-
SLC35C2-
-
-
-
3Gain-
SLC35D1-
-
-
-
1Loss-
SLC35E2A-
-
-
-
1Loss-
SLC35E2B-
-
-
-
1Loss-
SLC35E3-
-
-
-
26Amp-
SLC35F2-
-
-
-
1Loss-
SLC35G4-
-
-
-
1Loss-
SLC35G5-
-
-
-
0Del-
SLC35G6-
-
-
-
1Loss-
SLC36A4-
-
-
-
7Amp-
SLC37A2-
-
-
-
1Loss-
SLC37A4-
-
-
-
1Loss-
SLC38A9-
-
-
-
1Loss-
SLC39A14-
-
-
-
0Del-
SLC39A4-
-
-
-
3Gain-
SLC39A6-
-
-
-
1Loss-
SLC41A2-
-
-
-
1Loss-
SLC43A2-
-
-
-
1Loss-
SLC44A3-
-
-
-
1Loss-
SLC44A5-
-
-
-
1Loss-
SLC45A1-
-
-
-
1Loss-
SLC45A4-
-
-
-
3Gain-
SLC46A3-
-
-
-
3Gain-
SLC4A11-
-
-
-
3Gain-
SLC51B-
-
-
-
1Loss-
SLC52A1-
-
-
-
1Loss-
SLC52A2-
-
-
-
3Gain-
SLC52A3-
-
-
-
3Gain-
SLC5A8-
-
-
-
1Loss-
SLC5A9-
-
-
-
1Loss-
SLC6A15-
-
-
-
1Loss-
SLC6A17-
-
-
-
1Loss-
SLC6A9-
-
-
-
1Loss-
SLC7A1-
-
-
-
3Gain-
SLC7A13-
-
-
-
3Gain-
SLC7A2-
-
-
-
0Del-
SLC8B1-
-
-
-
1Loss-
SLC9A1-
-
-
-
1Loss-
SLC9A8-
-
-
-
3Gain-
SLCO3A1-
-
-
-
1Loss-
SLCO4A1-
-
-
-
3Gain-
SLCO4C1-
-
-
-
1Loss-
SLCO5A1-
-
-
-
3Gain-
SLCO6A1-
-
-
-
1Loss-
SLF1-
-
-
-
1Loss-
SLFNL1-
-
-
-
1Loss-
SLITRK1-
-
-
-
3Gain-
SLITRK5-
-
-
-
3Gain-
SLITRK6-
-
-
-
3Gain-
SLN-
-
-
-
1Loss-
SLPI-
-
-
-
3Gain-
SLTM-
-
-
-
1Loss-
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SLX4IP-
-
-
-
3Gain-
SMAD2-
-
-
-
1Loss-
SMAD3-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD5-
-
-
-
1Loss-
SMAD6-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMAD9-
-
-
-
3Gain-
SMAP2-
-
-
-
1Loss-
SMARCA2-
-
-
-
3Gain-
SMCHD1-
-
-
-
0Del-
SMCO4-
-
-
-
7Amp-
SMG6-
-
-
-
1Loss-
SMIM1-
-
-
-
1Loss-
SMIM12-
-
-
-
1Loss-
SMIM15-
-
-
-
1Loss-
SMIM18-
-
-
-
0Del-
SMIM2-
-
-
-
3Gain-
SMIM21-
-
-
-
1Loss-
SMIM26-
-
-
-
3Gain-
SMIM27-
-
-
-
3Gain-
SMIM32-
-
-
-
1Loss-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMOX-
-
-
-
3Gain-
SMPDL3B-
-
-
-
1Loss-
SMTNL2-
-
-
-
1Loss-
SMU1-
-
-
-
3Gain-
SMYD4-
-
-
-
1Loss-
SNAI1-
-
-
-
3Gain-
SNAI2-
-
-
-
3Gain-
SNAP23-
-
-
-
1Loss-
SNAP25-
-
-
-
3Gain-
SNAPC5-
-
-
-
1Loss-
SNCAIP-
-
-
-
1Loss-
SNIP1-
-
-
-
1Loss-
SNORA68-
-
-
-
NDNDEEF1A1--SNORA68
SNPH-
-
-
-
3Gain-
SNRNP35-
-
-
-
1Loss-
SNRNP40-
-
-
-
1Loss-
SNRPA1-
-
-
-
1Loss-
SNRPB-
-
-
-
3Gain-
SNRPB2-
-
-
-
3Gain-
SNRPD1-
-
-
-
1Loss-
SNRPF-
-
-
-
1Loss-
SNRPN-
-
-
-
1Loss-
SNTA1-
-
-
-
3Gain-
SNTB1-
-
-
-
3Gain-
SNTG1-
-
-
-
3Gain-
SNUPN-
-
-
-
1Loss-
SNURF-
-
-
-
1Loss-
SNX1-
-
-
-
1Loss-
SNX16-
-
-
-
3Gain-
SNX18-
-
-
-
1Loss-
SNX19-
-
-
-
1Loss-
SNX2-
-
-
-
1Loss-
SNX21-
-
-
-
3Gain-
SNX22-
-
-
-
1Loss-
SNX24-
-
-
-
1Loss-
SNX31-
-
-
-
3Gain-
SNX33-
-
-
-
1Loss-
SNX5-
-
-
-
3Gain-
SNX7-
-
-
-
1Loss-
SOCS2-
-
-
-
1Loss-
SOCS6-
-
-
-
1Loss-
SOGA1-
-
-
-
3Gain-
SOHLH2-
-
-
-
3Gain-
SORBS3-
-
-
-
0Del-
SORD-
-
-
-
1Loss-
SORL1-
-
-
-
1Loss-
SORT1-
-
-
-
1Loss-
SOWAHA-
-
-
-
1Loss-
SOX1-
-
-
-
3Gain-
SOX12-
-
-
-
3Gain-
SOX15-
-
-
-
1Loss-
SOX17-
-
-
-
3Gain-
SOX18-
-
-
-
3Gain-
SOX21-
-
-
-
3Gain-
SOX7-
-
-
-
0Del-
SPA17-
-
-
-
1Loss-
SPACA7-
-
-
-
3Gain-
SPAG1-
-
-
-
3Gain-
SPAG11A-
-
-
-
0Del-
SPAG11B-
-
-
-
0Del-
SPAG17-
-
-
-
1Loss-
SPAG4-
-
-
-
3Gain-
SPAG7-
-
-
-
1Loss-
SPART-
-
-
-
3Gain-
SPATA1-
-
-
-
1Loss-
SPATA13-
-
-
-
3Gain-
SPATA19-
-
-
-
1Loss-
SPATA2-
-
-
-
3Gain-
SPATA21-
-
-
-
1Loss-
SPATA22-
-
-
-
1Loss-
SPATA25-
-
-
-
3Gain-
SPATA31A1p.V342M
Missense
SNP
0.406
1Loss-
SPATA31A3-
-
-
-
1Loss-
SPATA5L1-
-
-
-
1Loss-
SPATA6-
-
-
-
1Loss-
SPATA6L-
-
-
-
3Gain-
SPATA8-
-
-
-
1Loss-
SPATA9-
-
-
-
1Loss-
SPATC1-
-
-
-
3Gain-
SPEF1-
-
-
-
3Gain-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPEN-
-
-
-
1Loss-
SPERT-
-
-
-
3Gain-
SPESP1-
-
-
-
1Loss-
SPG11-
-
-
-
1Loss-
SPG21-
-
-
-
1Loss-
SPIC-
-
-
-
1Loss-
SPIDR-
-
-
-
3Gain-
SPINK4-
-
-
-
3Gain-
SPINT1-
-
-
-
1Loss-
SPINT3-
-
-
-
3Gain-
SPINT4-
-
-
-
3Gain-
SPIRE1-
-
-
-
1Loss-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPO11-
-
-
-
3Gain-
SPOCD1-
-
-
-
1Loss-
SPPL2A-
-
-
-
1Loss-
SPPL3-
-
-
-
1Loss-
SPRED1-
-
-
-
1Loss-
SPRY2-
-
-
-
3Gain-
SPRYD7-
-
-
-
3Gain-
SPSB1-
-
-
-
1Loss-
SPTBN5-
-
-
-
1Loss-
SPTLC3-
-
-
-
3Gain-
SPZ1-
-
-
-
1Loss-
SQLE-
-
-
-
3Gain-
SQOR-
-
-
-
1Loss-
SRARP-
-
-
-
1Loss-
SRC-
-
-
-
3Gain-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRFBP1-
-
-
-
1Loss-
SRGAP2C-
-
-
-
1Loss-
SRM-
-
-
-
1Loss-
SRMS-
-
-
-
3Gain-
SRP14-
-
-
-
1Loss-
SRP19-
-
-
-
1Loss-
SRPRA-
-
-
-
1Loss-
SRR-
-
-
-
1Loss-
SRRM1-
-
-
-
1Loss-
SRRM4-
-
-
-
1Loss-
SRSF10-
-
-
-
1Loss-
SRSF11-
-
-
-
1Loss-
SRSF4-
-
-
-
1Loss-
SRSF6-
-
-
-
3Gain-
SRSF8-
-
-
-
7Amp-
SRSF9-
-
-
-
1Loss-
SRXN1-
-
-
-
3Gain-
SS18-
-
-
-
1Loss-
SS18L1-
-
-
-
3Gain-
SSBP2-
-
-
-
1Loss-
SSBP3-
-
-
-
1Loss-
SSH1-
-
-
-
1Loss-
SSTR4-
-
-
-
3Gain-
SSU72-
-
-
-
1Loss-
SSX2IP-
-
-
-
1Loss-
ST14-
-
-
-
1Loss-
ST18-
-
-
-
3Gain-
ST20-
-
-
-
1Loss-
ST20-MTHFS-
-
-
-
1Loss-
ST3GAL1-
-
-
-
3Gain-
ST3GAL3-
-
-
-
1Loss-
ST3GAL4-
-
-
-
1Loss-
ST6GALNAC3-
-
-
-
1Loss-
ST6GALNAC5-
-
-
-
1Loss-
ST7L-
-
-
-
1Loss-
ST8SIA2-
-
-
-
1Loss-
ST8SIA3-
-
-
-
1Loss-
ST8SIA4-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
STAB2-
-
-
-
1Loss-
STARD13-
-
-
-
3Gain-
STARD4-
-
-
-
1Loss-
STARD5-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STARD9-
-
-
-
1Loss-
STAU1-
-
-
-
3Gain-
STAU2-
-
-
-
3Gain-
STC1-
-
-
-
0Del-
STIL-
-
-
-
1Loss-
STK24-
-
-
-
3Gain-
STK3-
-
-
-
3Gain-
STK35-
-
-
-
3Gain-
STK4-
-
-
-
3Gain-
STK40-
-
-
-
1Loss-
STMN1-
-
-
-
1Loss-
STMN2-
-
-
-
3Gain-
STMN3-
-
-
-
3Gain-
STMN4-
-
-
-
0Del-
STOML1-
-
-
-
1Loss-
STOML2-
-
-
-
3Gain-
STOML3-
-
-
-
3Gain-
STPG1-
-
-
-
1Loss-
STRA6-
-
-
-
1Loss-
STRC-
-
-
-
1Loss-
STRIP1-
-
-
-
1Loss-
STT3A-
-
-
-
1Loss-
STX12-
-
-
-
1Loss-
STX16-
-
-
-
3Gain-
STX16-NPEPL1-
-
-
-
3Gain-
STX2-
-
-
-
1Loss-
STXBP3-
-
-
-
1Loss-
SUCLA2-
-
-
-
3Gain-
SUDS3-
-
-
-
1Loss-
SUGT1-
-
-
-
3Gain-
SULF1-
-
-
-
3Gain-
SULF2-
-
-
-
3Gain-
SUN5-
-
-
-
3Gain-
SUPT20H-
-
-
-
3Gain-
SV2B-
-
-
-
1Loss-
SV2C-
-
-
-
1Loss-
SVBP-
-
-
-
1Loss-
SVOP-
-
-
-
1Loss-
SYBU-
-
-
-
3Gain-
SYCP1-
-
-
-
1Loss-
SYCP2-
-
-
-
3Gain-
SYCP3-
-
-
-
1Loss-
SYDE2-
-
-
-
1Loss-
SYF2-
-
-
-
1Loss-
SYNC-
-
-
-
1Loss-
SYNDIG1-
-
-
-
3Gain-
SYNM-
-
-
-
1Loss-
SYPL2-
-
-
-
1Loss-
SYS1-
-
-
-
3Gain-
SYS1-DBNDD2-
-
-
-
3Gain-
SYT1-
-
-
-
1Loss-
SYT4-
-
-
-
1Loss-
SYT6-
-
-
-
1Loss-
SYTL1-
-
-
-
1Loss-
SYTL2-
-
-
-
7Amp-
SZRD1-
-
-
-
1Loss-
SZT2-
-
-
-
1Loss-
TACSTD2-
-
-
-
1Loss-
TAF12-
-
-
-
1Loss-
TAF13-
-
-
-
1Loss-
TAF1D-
-
-
-
7Amp-
TAF1L-
-
-
-
3Gain-
TAF2-
-
-
-
3Gain-
TAF4-
-
-
-
3Gain-
TAF4B-
-
-
-
1Loss-
TAF9-
-
-
-
1Loss-
TAGLN-
-
-
-
1Loss-
TAL1-
-
-
-
1Loss-
TAOK3-
-
-
-
1Loss-
TARDBP-
-
-
-
1Loss-
TARSL2-
-
-
-
1Loss-
TAS1R1-
-
-
-
1Loss-
TAS1R2-
-
-
-
1Loss-
TAS1R3-
-
-
-
1Loss-
TASP1-
-
-
-
3Gain-
TATDN1-
-
-
-
3Gain-
TAX1BP3-
-
-
-
1Loss-
TBC1D15-
-
-
-
6Amp-
TBC1D20-
-
-
-
3Gain-
TBC1D21-
-
-
-
1Loss-
TBC1D2B-
-
-
-
1Loss-
TBC1D31-
-
-
-
3Gain-
TBC1D4-
-
-
-
3Gain-
TBCA-
-
-
-
1Loss-
TBCEL-
-
-
-
1Loss-
TBRG1-
-
-
-
1Loss-
TBX15-
-
-
-
1Loss-
TBX3-
-
-
-
1Loss-
TBX5-
-
-
-
1Loss-
TCEA1-
-
-
-
3Gain-
TCEA2-
-
-
-
3Gain-
TCEA3-
-
-
-
1Loss-
TCEAL8p.E39K
Missense
SNP
0.505
NDND-
TCEANC2-
-
-
-
1Loss-
TCF12-
-
-
-
1Loss-
TCF15-
-
-
-
3Gain-
TCF24-
-
-
-
3Gain-
TCF4-
-
-
-
1Loss-
TCF7-
-
-
-
1Loss-
TCFL5-
-
-
-
3Gain-
TCHP-
-
-
-
1Loss-
TCP11L2-
-
-
-
1Loss-
TCTEX1D1-
-
-
-
1Loss-
TCTEX1D4-
-
-
-
1Loss-
TCTN1-
-
-
-
1Loss-
TCTN2-
-
-
-
1Loss-
TDG-
-
-
-
1Loss-
TDRD3-
-
-
-
3Gain-
TDRP-
-
-
-
0Del-
TECTA-
-
-
-
1Loss-
TEKT1-
-
-
-
1Loss-
TEKT2-
-
-
-
1Loss-
TENT2-
-
-
-
1Loss-
TENT5B-
-
-
-
1Loss-
TENT5C-
-
-
-
1Loss-
TERB2-
-
-
-
1Loss-
TERF1-
-
-
-
3Gain-
TESC-
-
-
-
1Loss-
TESK1-
-
-
-
3Gain-
TESK2-
-
-
-
1Loss-
TEX12-
-
-
-
1Loss-
TEX15-
-
-
-
0Del-
TEX26-
-
-
-
3Gain-
TEX29-
-
-
-
3Gain-
TEX30-
-
-
-
3Gain-
TEX38-
-
-
-
1Loss-
TEX43-
-
-
-
1Loss-
TEX46-
-
-
-
1Loss-
TEX9-
-
-
-
1Loss-
TFAP2C-
-
-
-
3Gain-
TFAP2E-
-
-
-
1Loss-
TFDP1-
-
-
-
3Gain-
TG-
-
-
-
3Gain-
TGDS-
-
-
-
3Gain-
TGFBI-
-
-
-
1Loss-
TGFBR3-
-
-
-
1Loss-
TGIF1-
-
-
-
0Del-
TGIF2-
-
-
-
3Gain-
TGIF2-RAB5IF-
-
-
-
3Gain-
TGM2-
-
-
-
3Gain-
TGM3-
-
-
-
3Gain-
TGM5-
-
-
-
1Loss-
TGM6-
-
-
-
3Gain-
TGM7-
-
-
-
1Loss-
TGS1-
-
-
-
3Gain-
THAP10-
-
-
-
1Loss-
THAP2-
-
-
-
6Amp-
THAP3-
-
-
-
1Loss-
THBD-
-
-
-
3Gain-
THBS1-
-
-
-
1Loss-
THBS4-
-
-
-
1Loss-
THEM6-
-
-
-
3Gain-
THEMIS2-
-
-
-
1Loss-
THOC1-
-
-
-
0Del-
THRAP3-
-
-
-
1Loss-
THSD1-
-
-
-
3Gain-
THSD4-
-
-
-
1Loss-
THY1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TICRR-
-
-
-
1Loss-
TIE1-
-
-
-
1Loss-
TIFAB-
-
-
-
1Loss-
TIGD5-
-
-
-
3Gain-
TIMM21-
-
-
-
1Loss-
TIMM22-
-
-
-
1Loss-
TIMM8B-
-
-
-
1Loss-
TINAGL1-
-
-
-
1Loss-
TIPIN-
-
-
-
1Loss-
TIRAP-
-
-
-
1Loss-
TJP1-
-
-
-
1Loss-
TLCD2-
-
-
-
1Loss-
TLDC2-
-
-
-
3Gain-
TLE3-
-
-
-
1Loss-
TLN2-
-
-
-
1Loss-
TLNRD1-
-
-
-
1Loss-
TM2D1-
-
-
-
1Loss-
TM2D3-
-
-
-
1Loss-
TM4SF5-
-
-
-
1Loss-
TM6SF1-
-
-
-
1Loss-
TM9SF2-
-
-
-
3Gain-
TM9SF4-
-
-
-
11Amp-
TMBIM4-
-
-
-
15Amp-
TMC2-
-
-
-
3Gain-
TMC3-
-
-
-
1Loss-
TMCC3-
-
-
-
1Loss-
TMCO2-
-
-
-
1Loss-
TMCO3-
-
-
-
3Gain-
TMCO4-
-
-
-
1Loss-
TMCO5A-
-
-
-
1Loss-
TMED2-
-
-
-
1Loss-
TMED3-
-
-
-
1Loss-
TMED5-
-
-
-
1Loss-
TMED7-
-
-
-
1Loss-
TMED7-TICAM2-
-
-
-
1Loss-
TMEM102-
-
-
-
1Loss-
TMEM116-
-
-
-
1Loss-
TMEM119-
-
-
-
1Loss-
TMEM120B-
-
-
-
1Loss-
TMEM123-
-
-
-
19Amp-
TMEM125-
-
-
-
1Loss-
TMEM126A-
-
-
-
7Amp-
TMEM126B-
-
-
-
7Amp-
TMEM132B-
-
-
-
1Loss-
TMEM132C-
-
-
-
1Loss-
TMEM132D-
-
-
-
1Loss-
TMEM135-
-
-
-
7Amp-
TMEM136-
-
-
-
1Loss-
TMEM161B-
-
-
-
1Loss-
TMEM167A-
-
-
-
1Loss-
TMEM167B-
-
-
-
1Loss-
TMEM171-
-
-
-
1Loss-
TMEM174-
-
-
-
1Loss-
TMEM189-
-
-
-
3Gain-
TMEM189-UBE2V1-
-
-
-
3Gain-
TMEM19-
-
-
-
6Amp-
TMEM200B-
-
-
-
1Loss-
TMEM200C-
-
-
-
1Loss-
TMEM201-
-
-
-
1Loss-
TMEM202-
-
-
-
1Loss-
TMEM215-
-
-
-
3Gain-
TMEM218-
-
-
-
1Loss-
TMEM222-
-
-
-
1Loss-
TMEM225-
-
-
-
1Loss-
TMEM230-
-
-
-
3Gain-
TMEM232-
-
-
-
1Loss-
TMEM233-
-
-
-
1Loss-
TMEM234-
-
-
-
1Loss-
TMEM239-
-
-
-
3Gain-
TMEM240-
-
-
-
1Loss-
TMEM241-
-
-
-
1Loss-
TMEM249-
-
-
-
3Gain-
TMEM25-
-
-
-
1Loss-
TMEM255B-
-
-
-
3Gain-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM263-
-
-
-
1Loss-
TMEM266-
-
-
-
1Loss-
TMEM269-
-
-
-
1Loss-
TMEM272-
-
-
-
3Gain-
TMEM35B-
-
-
-
1Loss-
TMEM39B-
-
-
-
1Loss-
TMEM45B-
-
-
-
1Loss-
TMEM50A-
-
-
-
1Loss-
TMEM51-
-
-
-
1Loss-
TMEM52-
-
-
-
1Loss-
TMEM53-
-
-
-
1Loss-
TMEM54-
-
-
-
1Loss-
TMEM56-
-
-
-
1Loss-
TMEM56-RWDD3-
-
-
-
1Loss-
TMEM59-
-
-
-
1Loss-
TMEM61-
-
-
-
1Loss-
TMEM62-
-
-
-
1Loss-
TMEM64-
-
-
-
3Gain-
TMEM65-
-
-
-
3Gain-
TMEM67-
-
-
-
3Gain-
TMEM68-
-
-
-
3Gain-
TMEM69-
-
-
-
1Loss-
TMEM70-
-
-
-
3Gain-
TMEM71-
-
-
-
3Gain-
TMEM74-
-
-
-
3Gain-
TMEM74B-
-
-
-
3Gain-
TMEM82-
-
-
-
1Loss-
TMEM87A-
-
-
-
1Loss-
TMEM88B-
-
-
-
1Loss-
TMEM95-
-
-
-
1Loss-
TMIGD3-
-
-
-
1Loss-
TMOD2-
-
-
-
1Loss-
TMOD3-
-
-
-
1Loss-
TMPO-
-
-
-
1Loss-
TMPRSS11Ap.Q293H
Missense
SNP
0.381
2--
TMPRSS13-
-
-
-
1Loss-
TMPRSS4-
-
-
-
1Loss-
TMPRSS5-
-
-
-
1Loss-
TMTC2-
-
-
-
1Loss-
TMTC3-
-
-
-
1Loss-
TMTC4-
-
-
-
3Gain-
TMX3-
-
-
-
1Loss-
TMX4-
-
-
-
3Gain-
TNFAIP8-
-
-
-
1Loss-
TNFAIP8L3-
-
-
-
1Loss-
TNFRSF10A-
-
-
-
0Del-
TNFRSF10B-
-
-
-
0Del-
TNFRSF10C-
-
-
-
0Del-
TNFRSF10D-
-
-
-
0Del-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF11B-
-
-
-
3Gain-
TNFRSF14-
-
-
-
1Loss-
TNFRSF18-
-
-
-
1Loss-
TNFRSF19-
-
-
-
3Gain-
TNFRSF1B-
-
-
-
1Loss-
TNFRSF25-
-
-
-
1Loss-
TNFRSF4-
-
-
-
1Loss-
TNFRSF6B-
-
-
-
3Gain-
TNFRSF8-
-
-
-
1Loss-
TNFRSF9-
-
-
-
1Loss-
TNFSF11-
-
-
-
3Gain-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF13B-
-
-
-
3Gain-
TNK1-
-
-
-
1Loss-
TNKS-
-
-
-
0Del-
TNNC2-
-
-
-
3Gain-
TNNI3K-
-
-
-
1Loss-
TNPO1-
-
-
-
1Loss-
TNXB-
-
-
-
1Loss-
TOE1-
-
-
-
1Loss-
TOMM34-
-
-
-
3Gain-
TONSL-
-
-
-
3Gain-
TOP1-
-
-
-
3Gain-
TOP1MT-
-
-
-
3Gain-
TOPORS-
-
-
-
3Gain-
TOX-
-
-
-
3Gain-
TOX2-
-
-
-
3Gain-
TP53p.R248Q
Missense
SNP
1.000
0Del-
TP53AIP1-
-
-
-
1Loss-
TP53BP1-
-
-
-
1Loss-
TP53INP1-
-
-
-
3Gain-
TP53INP2-
-
-
-
3Gain-
TP53RK-
-
-
-
3Gain-
TP53TG5-
-
-
-
3Gain-
TP73-
-
-
-
1Loss-
TPCN1-
-
-
-
1Loss-
TPD52-
-
-
-
3Gain-
TPD52L2-
-
-
-
3Gain-
TPGS2-
-
-
-
1Loss-
TPH2-
-
-
-
6Amp-
TPM1-
-
-
-
1Loss-
TPP2-
-
-
-
3Gain-
TPRG1L-
-
-
-
1Loss-
TPT1-
-
-
-
3Gain-
TPTE2-
-
-
-
3Gain-
TPX2-
-
-
-
6Amp-
TRABD2B-
-
-
-
1Loss-
TRAFD1-
-
-
-
1Loss-
TRAM1-
-
-
-
3Gain-
TRAPPC13-
-
-
-
1Loss-
TRAPPC3-
-
-
-
1Loss-
TRAPPC4-
-
-
-
1Loss-
TRAPPC8-
-
-
-
1Loss-
TRAPPC9-
-
-
-
3Gain-
TRARG1-
-
-
-
1Loss-
TREH-
-
-
-
1Loss-
TRHDE-
-
-
-
1Loss-
TRHR-
-
-
-
3Gain-
TRIAP1-
-
-
-
1Loss-
TRIB1-
-
-
-
3Gain-
TRIB3-
-
-
-
3Gain-
TRIM13-
-
-
-
3Gain-
TRIM23-
-
-
-
1Loss-
TRIM29-
-
-
-
1Loss-
TRIM33-
-
-
-
1Loss-
TRIM35-
-
-
-
0Del-
TRIM36-
-
-
-
1Loss-
TRIM45-
-
-
-
1Loss-
TRIM49-
-
-
-
7Amp-
TRIM49C-
-
-
-
5Amp-
TRIM49D1-
-
-
-
5Amp-
TRIM49D2-
-
-
-
5Amp-
TRIM55-
-
-
-
3Gain-
TRIM62-
-
-
-
1Loss-
TRIM63-
-
-
-
1Loss-
TRIM64-
-
-
-
5Amp-
TRIM64B-
-
-
-
5Amp-
TRIM69-
-
-
-
1Loss-
TRIM77-
-
-
-
7Amp-
TRIP4-
-
-
-
1Loss-
TRIQK-
-
-
-
3Gain-
TRIT1-
-
-
-
1Loss-
TRMT12-
-
-
-
3Gain-
TRMT13-
-
-
-
1Loss-
TRMT6-
-
-
-
3Gain-
TRMT9B-
-
-
-
0Del-
TRNAU1AP-
-
-
-
1Loss-
TRNP1-
-
-
-
1Loss-
TRPA1-
-
-
-
3Gain-
TRPC4-
-
-
-
3Gain-
TRPC4AP-
-
-
-
3Gain-
TRPC6-
-
-
-
25Amp-
TRPC7-
-
-
-
1Loss-
TRPM1-
-
-
-
1Loss-
TRPM7-
-
-
-
1Loss-
TRPS1-
-
-
-
3Gain-
TRPV1-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TRPV4-
-
-
-
1Loss-
TSC22D1-
-
-
-
3Gain-
TSHB-
-
-
-
1Loss-
TSHZ1-
-
-
-
1Loss-
TSHZ2-
-
-
-
3Gain-
TSLP-
-
-
-
1Loss-
TSNARE1-
-
-
-
3Gain-
TSPAN1-
-
-
-
1Loss-
TSPAN19-
-
-
-
1Loss-
TSPAN2-
-
-
-
1Loss-
TSPAN3-
-
-
-
1Loss-
TSPAN8-
-
-
-
9Amp-
TSPYL5-
-
-
-
3Gain-
TSR1-
-
-
-
1Loss-
TSSK1B-
-
-
-
1Loss-
TSSK3-
-
-
-
1Loss-
TSTA3-
-
-
-
3Gain-
TTBK2-
-
-
-
1Loss-
TTC12-
-
-
-
1Loss-
TTC22-
-
-
-
1Loss-
TTC23-
-
-
-
1Loss-
TTC34-
-
-
-
1Loss-
TTC36-
-
-
-
1Loss-
TTC37-
-
-
-
1Loss-
TTC39A-
-
-
-
1Loss-
TTC39C-
-
-
-
1Loss-
TTC4-
-
-
-
1Loss-
TTF2-
-
-
-
1Loss-
TTI1-
-
-
-
3Gain-
TTI2-
-
-
-
0Del-
TTLL10-
-
-
-
1Loss-
TTLL13P-
-
-
-
1Loss-
TTLL7-
-
-
-
1Loss-
TTLL9-
-
-
-
11Amp-
TTNp.G6518E
Missense
SNP
0.462
2--
TTPA-
-
-
-
3Gain-
TTPAL-
-
-
-
3Gain-
TTR-
-
-
-
1Loss-
TUBA3C-
-
-
-
3Gain-
TUBB1-
-
-
-
3Gain-
TUBB6-
-
-
-
1Loss-
TUBGCP3-
-
-
-
3Gain-
TUBGCP4-
-
-
-
1Loss-
TUBGCP5-
-
-
-
1Loss-
TUSC3-
-
-
-
0Del-
TUT4-
-
-
-
1Loss-
TWSG1-
-
-
-
1Loss-
TXLNA-
-
-
-
1Loss-
TXNDC12-
-
-
-
1Loss-
TXNDC15-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNDC2-
-
-
-
1Loss-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNRD1-
-
-
-
1Loss-
TYMS-
-
-
-
0Del-
TYR-
-
-
-
7Amp-
TYRO3-
-
-
-
1Loss-
TYW3-
-
-
-
1Loss-
UACA-
-
-
-
1Loss-
UBAC2-
-
-
-
3Gain-
UBAP1-
-
-
-
3Gain-
UBAP1L-
-
-
-
1Loss-
UBAP2-
-
-
-
3Gain-
UBASH3B-
-
-
-
1Loss-
UBC-
-
-
-
1Loss-
UBE2B-
-
-
-
1Loss-
UBE2C-
-
-
-
3Gain-
UBE2G1-
-
-
-
1Loss-
UBE2J2-
-
-
-
1Loss-
UBE2N-
-
-
-
1Loss-
UBE2Q2-
-
-
-
1Loss-
UBE2Q2L-
-
-
-
1Loss-
UBE2R2-
-
-
-
3Gain-
UBE2U-
-
-
-
1Loss-
UBE2V1-
-
-
-
3Gain-
UBE2V2-
-
-
-
3Gain-
UBE2W-
-
-
-
3Gain-
UBE3A-
-
-
-
1Loss-
UBE3B-
-
-
-
1Loss-
UBE4A-
-
-
-
1Loss-
UBE4B-
-
-
-
1Loss-
UBIAD1-
-
-
-
1Loss-
UBL3-
-
-
-
3Gain-
UBL4B-
-
-
-
1Loss-
UBL7-
-
-
-
1Loss-
UBOX5-
-
-
-
3Gain-
UBR1-
-
-
-
1Loss-
UBR4-
-
-
-
1Loss-
UBR5-
-
-
-
3Gain-
UBTFL1-
-
-
-
5Amp-
UBXN10-
-
-
-
1Loss-
UBXN11-
-
-
-
1Loss-
UBXN2B-
-
-
-
3Gain-
UBXN8-
-
-
-
0Del-
UCHL3-
-
-
-
3Gain-
UCKL1-
-
-
-
3Gain-
UFM1-
-
-
-
3Gain-
UGGT2-
-
-
-
3Gain-
UGT2A3-
-
-
-
1Loss-
UGT2B10-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15-
-
-
-
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4-
-
-
-
1Loss-
UGT2B7-
-
-
-
1Loss-
UHRF1BP1L-
-
-
-
1Loss-
ULK1-
-
-
-
1Loss-
ULK3-
-
-
-
1Loss-
UNC119B-
-
-
-
1Loss-
UNC13B-
-
-
-
3Gain-
UNC13C-
-
-
-
1Loss-
UNC45A-
-
-
-
1Loss-
UNG-
-
-
-
1Loss-
UPF3A-
-
-
-
3Gain-
UPK2-
-
-
-
1Loss-
UQCC1-
-
-
-
3Gain-
UQCRB-
-
-
-
3Gain-
UQCRH-
-
-
-
1Loss-
UQCRHL-
-
-
-
1Loss-
UQCRQ-
-
-
-
1Loss-
URAD-
-
-
-
3Gain-
UROD-
-
-
-
1Loss-
USP1-
-
-
-
1Loss-
USP12-
-
-
-
3Gain-
USP14-
-
-
-
0Del-
USP17L2-
-
-
-
0Del-
USP17L7-
-
-
-
0Del-
USP2-
-
-
-
1Loss-
USP24-
-
-
-
1Loss-
USP28-
-
-
-
1Loss-
USP3-
-
-
-
1Loss-
USP30-
-
-
-
1Loss-
USP33-
-
-
-
1Loss-
USP44-
-
-
-
1Loss-
USP48-
-
-
-
1Loss-
USP50-
-
-
-
1Loss-
USP6-
-
-
-
1Loss-
USP8-
-
-
-
1Loss-
USPL1-
-
-
-
3Gain-
UTP11-
-
-
-
1Loss-
UTP14C-
-
-
-
3Gain-
UTP15-
-
-
-
1Loss-
UTP20-
-
-
-
1Loss-
UTP23-
-
-
-
3Gain-
UTS2-
-
-
-
1Loss-
VAMP3-
-
-
-
1Loss-
VANGL1-
-
-
-
1Loss-
VAPA-
-
-
-
1Loss-
VAPB-
-
-
-
3Gain-
VAV3-
-
-
-
1Loss-
VCAM1-
-
-
-
1Loss-
VCAN-
-
-
-
1Loss-
VCP-
-
-
-
3Gain-
VCPIP1-
-
-
-
3Gain-
VDAC1-
-
-
-
1Loss-
VEZT-
-
-
-
1Loss-
VIRMA-
-
-
-
3Gain-
VLDLR-
-
-
-
3Gain-
VMO1-
-
-
-
1Loss-
VPS11-
-
-
-
1Loss-
VPS13B-
-
-
-
3Gain-
VPS13C-
-
-
-
1Loss-
VPS13D-
-
-
-
1Loss-
VPS16-
-
-
-
3Gain-
VPS18-
-
-
-
1Loss-
VPS26B-
-
-
-
1Loss-
VPS28-
-
-
-
3Gain-
VPS29-
-
-
-
1Loss-
VPS33A-
-
-
-
1Loss-
VPS33B-
-
-
-
1Loss-
VPS36-
-
-
-
3Gain-
VPS37A-
-
-
-
0Del-
VPS37B-
-
-
-
1Loss-
VPS39-
-
-
-
1Loss-
VPS4B-
-
-
-
1Loss-
VPS53-
-
-
-
1Loss-
VSIG10-
-
-
-
1Loss-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSTM2L-
-
-
-
3Gain-
VSTM5-
-
-
-
7Amp-
VSX1-
-
-
-
3Gain-
VTCN1-
-
-
-
1Loss-
VWA1-
-
-
-
1Loss-
VWA5A-
-
-
-
1Loss-
VWA5B1-
-
-
-
1Loss-
VWA8-
-
-
-
3Gain-
VXN-
-
-
-
3Gain-
WARS2-
-
-
-
1Loss-
WASF2-
-
-
-
1Loss-
WASF3-
-
-
-
3Gain-
WASHC3-
-
-
-
1Loss-
WASHC4-
-
-
-
1Loss-
WASHC5-
-
-
-
3Gain-
WBP4-
-
-
-
3Gain-
WDFY2-
-
-
-
3Gain-
WDR3-
-
-
-
1Loss-
WDR36-
-
-
-
1Loss-
WDR41-
-
-
-
1Loss-
WDR47-
-
-
-
1Loss-
WDR61-
-
-
-
1Loss-
WDR63-
-
-
-
1Loss-
WDR66-
-
-
-
1Loss-
WDR7-
-
-
-
1Loss-
WDR72-
-
-
-
1Loss-
WDR73-
-
-
-
1Loss-
WDR76-
-
-
-
1Loss-
WDR77-
-
-
-
1Loss-
WDR78-
-
-
-
1Loss-
WDR81-
-
-
-
1Loss-
WDR93-
-
-
-
1Loss-
WDR97-
-
-
-
3Gain-
WDTC1-
-
-
-
1Loss-
WDYHV1-
-
-
-
3Gain-
WFDC10A-
-
-
-
3Gain-
WFDC10B-
-
-
-
3Gain-
WFDC11-
-
-
-
3Gain-
WFDC12-
-
-
-
3Gain-
WFDC13-
-
-
-
3Gain-
WFDC2-
-
-
-
3Gain-
WFDC3-
-
-
-
3Gain-
WFDC5-
-
-
-
3Gain-
WFDC6-
-
-
-
3Gain-
WFDC8-
-
-
-
3Gain-
WFDC9-
-
-
-
3Gain-
WHAMM-
-
-
-
1Loss-
WISP1-
-
-
-
3Gain-
WISP2-
-
-
-
3Gain-
WLS-
-
-
-
1Loss-
WNT2B-
-
-
-
1Loss-
WNT4-
-
-
-
1Loss-
WRAP73-
-
-
-
1Loss-
WRN-
-
-
-
0Del-
WSB2-
-
-
-
1Loss-
WSCD1-
-
-
-
1Loss-
WSCD2-
-
-
-
1Loss-
WWP1-
-
-
-
3Gain-
XAF1-
-
-
-
1Loss-
XKR4-
-
-
-
3Gain-
XKR5-
-
-
-
0Del-
XKR6-
-
-
-
0Del-
XKR7-
-
-
-
11Amp-
XKR8-
-
-
-
1Loss-
XKR9-
-
-
-
3Gain-
XPO4-
-
-
-
3Gain-
XPO7-
-
-
-
0Del-
XRCC4-
-
-
-
1Loss-
XRN2-
-
-
-
3Gain-
YAP1-
-
-
-
19Amp-
YARS-
-
-
-
1Loss-
YBX1-
-
-
-
1Loss-
YBX2-
-
-
-
1Loss-
YEATS4-
-
-
-
26Amp-
YES1-
-
-
-
0Del-
YIPF1-
-
-
-
1Loss-
YRDC-
-
-
-
1Loss-
YTHDC2-
-
-
-
1Loss-
YTHDF1-
-
-
-
3Gain-
YTHDF2-
-
-
-
1Loss-
YTHDF3-
-
-
-
3Gain-
YWHAB-
-
-
-
3Gain-
YWHAE-
-
-
-
1Loss-
YWHAZ-
-
-
-
3Gain-
Z98752.3-
-
-
-
3Gain-
ZADH2-
-
-
-
1Loss-
ZAR1L-
-
-
-
3Gain-
ZBED3-
-
-
-
1Loss-
ZBP1-
-
-
-
3Gain-
ZBTB10-
-
-
-
3Gain-
ZBTB14-
-
-
-
0Del-
ZBTB16-
-
-
-
1Loss-
ZBTB17-
-
-
-
1Loss-
ZBTB4-
-
-
-
1Loss-
ZBTB40-
-
-
-
1Loss-
ZBTB44-
-
-
-
1Loss-
ZBTB46-
-
-
-
3Gain-
ZBTB48-
-
-
-
1Loss-
ZBTB7C-
-
-
-
1Loss-
ZBTB8A-
-
-
-
1Loss-
ZBTB8B-
-
-
-
1Loss-
ZBTB8OS-
-
-
-
1Loss-
ZC2HC1A-
-
-
-
3Gain-
ZC3H12A-
-
-
-
1Loss-
ZC3H12C-
-
-
-
1Loss-
ZC3H13-
-
-
-
3Gain-
ZC3H3-
-
-
-
3Gain-
ZCCHC10-
-
-
-
1Loss-
ZCCHC17-
-
-
-
1Loss-
ZCCHC2-
-
-
-
1Loss-
ZCCHC3-
-
-
-
3Gain-
ZCCHC8-
-
-
-
1Loss-
ZCCHC9-
-
-
-
1Loss-
ZDHHC17-
-
-
-
1Loss-
ZDHHC18-
-
-
-
1Loss-
ZDHHC2-
-
-
-
0Del-
ZDHHC20-
-
-
-
3Gain-
ZFAND1-
-
-
-
3Gain-
ZFAND6-
-
-
-
1Loss-
ZFAT-
-
-
-
3Gain-
ZFC3H1-
-
-
-
6Amp-
ZFHX4-
-
-
-
3Gain-
ZFP3-
-
-
-
1Loss-
ZFP41-
-
-
-
3Gain-
ZFP64-
-
-
-
3Gain-
ZFP69-
-
-
-
1Loss-
ZFP69B-
-
-
-
1Loss-
ZFPM2-
-
-
-
3Gain-
ZFYVE16-
-
-
-
1Loss-
ZFYVE19-
-
-
-
1Loss-
ZFYVE9-
-
-
-
1Loss-
ZGPAT-
-
-
-
3Gain-
ZHX1-
-
-
-
3Gain-
ZHX1-C8orf76-
-
-
-
3Gain-
ZHX2-
-
-
-
3Gain-
ZHX3-
-
-
-
3Gain-
ZIC2-
-
-
-
3Gain-
ZIC5-
-
-
-
3Gain-
ZMPSTE24-
-
-
-
1Loss-
ZMYM1-
-
-
-
1Loss-
ZMYM2-
-
-
-
3Gain-
ZMYM4-
-
-
-
1Loss-
ZMYM5-
-
-
-
3Gain-
ZMYM6-
-
-
-
1Loss-
ZMYND12-
-
-
-
1Loss-
ZMYND15-
-
-
-
1Loss-
ZMYND8-
-
-
-
3Gain-
ZNF10-
-
-
-
1Loss-
ZNF106-
-
-
-
1Loss-
ZNF133-
-
-
-
3Gain-
ZNF140-
-
-
-
1Loss-
ZNF16-
-
-
-
3Gain-
ZNF202-
-
-
-
1Loss-
ZNF217-
-
-
-
3Gain-
ZNF232-
-
-
-
1Loss-
ZNF236-
-
-
-
1Loss-
ZNF24-
-
-
-
1Loss-
ZNF250-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF26-
-
-
-
1Loss-
ZNF268-
-
-
-
1Loss-
ZNF280D-
-
-
-
1Loss-
ZNF326-
-
-
-
1Loss-
ZNF334-
-
-
-
3Gain-
ZNF335-
-
-
-
3Gain-
ZNF337-
-
-
-
3Gain-
ZNF34-
-
-
-
3Gain-
ZNF341-
-
-
-
3Gain-
ZNF343-
-
-
-
3Gain-
ZNF362-
-
-
-
1Loss-
ZNF366-
-
-
-
1Loss-
ZNF395-
-
-
-
0Del-
ZNF396-
-
-
-
1Loss-
ZNF397-
-
-
-
1Loss-
ZNF407-
-
-
-
1Loss-
ZNF436-
-
-
-
1Loss-
ZNF474-
-
-
-
1Loss-
ZNF512B-
-
-
-
3Gain-
ZNF516-
-
-
-
1Loss-
ZNF517-
-
-
-
3Gain-
ZNF519-
-
-
-
1Loss-
ZNF521-
-
-
-
1Loss-
ZNF532-
-
-
-
1Loss-
ZNF568p.A159V
Missense
SNP
0.188
2--
ZNF572-
-
-
-
3Gain-
ZNF592-
-
-
-
1Loss-
ZNF593-
-
-
-
1Loss-
ZNF594-
-
-
-
1Loss-
ZNF596-
-
-
-
0Del-
ZNF605-
-
-
-
1Loss-
ZNF608-
-
-
-
1Loss-
ZNF609-
-
-
-
1Loss-
ZNF623-
-
-
-
3Gain-
ZNF644-
-
-
-
1Loss-
ZNF658-
-
-
-
1Loss-
ZNF664-
-
-
-
1Loss-
ZNF683-
-
-
-
1Loss-
ZNF684-
-
-
-
1Loss-
ZNF691-
-
-
-
1Loss-
ZNF696-
-
-
-
3Gain-
ZNF697-
-
-
-
1Loss-
ZNF7-
-
-
-
3Gain-
ZNF704-
-
-
-
3Gain-
ZNF706-
-
-
-
3Gain-
ZNF707-
-
-
-
3Gain-
ZNF710-
-
-
-
1Loss-
ZNF770-
-
-
-
1Loss-
ZNF774-
-
-
-
1Loss-
ZNF804Bp.D768N
Missense
SNP
0.542
2--
ZNF831-
-
-
-
3Gain-
ZNF84-
-
-
-
1Loss-
ZNF891-
-
-
-
1Loss-
ZNFX1-
-
-
-
3Gain-
ZNHIT6-
-
-
-
1Loss-
ZPR1-
-
-
-
1Loss-
ZRANB2-
-
-
-
1Loss-
ZSCAN2-
-
-
-
1Loss-
ZSCAN20-
-
-
-
1Loss-
ZSCAN29-
-
-
-
1Loss-
ZSCAN30-
-
-
-
1Loss-
ZSWIM1-
-
-
-
3Gain-
ZSWIM3-
-
-
-
3Gain-
ZSWIM5-
-
-
-
1Loss-
ZSWIM6-
-
-
-
1Loss-
ZW10-
-
-
-
1Loss-
ZWILCH-
-
-
-
1Loss-
ZYG11A-
-
-
-
1Loss-
ZYG11B-
-
-
-
1Loss-
ZZEF1-
-
-
-
1Loss-