PDMR-295223~140-R~CS7G71-P1

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1CF-
-
-
-
1Loss-
A4GNT-
-
-
-
5Amp-
AAAS-
-
-
-
1Loss-
AADAC-
-
-
-
5Amp-
AADACL2-
-
-
-
5Amp-
AADAT-
-
-
-
3Gain-
AAMDC-
-
-
-
1Loss-
AAMP-
-
-
-
3Gain-
AARD-
-
-
-
4Gain-
AARS2-
-
-
-
1Loss-
AASDHPPT-
-
-
-
1Loss-
ABCA1-
-
-
-
3Gain-
ABCA12-
-
-
-
3Gain-
ABCA2p.P1592H
Missense
SNP
0.467
2--
ABCA4-
-
-
-
1Loss-
ABCB6-
-
-
-
3Gain-
ABCC10-
-
-
-
1Loss-
ABCC2-
-
-
-
1Loss-
ABCC4-
-
-
-
1Loss-
ABCC5-
-
-
-
7Amp-
ABCC8-
-
-
-
1Loss-
ABCD2-
-
-
-
1Loss-
ABCD3-
-
-
-
1Loss-
ABCD4-
-
-
-
1Loss-
ABCE1-
-
-
-
3Gain-
ABCF1-
-
-
-
1Loss-
ABCF3-
-
-
-
7Amp-
ABCG4-
-
-
-
1Loss-
ABHD10-
-
-
-
4Gain-
ABHD12B-
-
-
-
1Loss-
ABHD13-
-
-
-
1Loss-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD16A-
-
-
-
1Loss-
ABHD17B-
-
-
-
3Gain-
ABHD18-
-
-
-
3Gain-
ABHD4-
-
-
-
3Gain-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABI2-
-
-
-
3Gain-
ABI3BP-
-
-
-
4Gain-
ABL2-
-
-
-
3Gain-
ABLIM1-
-
-
-
1Loss-
ABR-
-
-
-
1Loss-
ABRA-
-
-
-
4Gain-
ABRACL-
-
-
-
1Loss-
ABRAXAS2-
-
-
-
1Loss-
ABT1-
-
-
-
1Loss-
ABTB1-
-
-
-
5Amp-
ABTB2-
-
-
-
1Loss-
AC002996.1-
-
-
-
1Loss-
AC003688.1-
-
-
-
1Loss-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005520.1-
-
-
-
1Loss-
AC006059.2-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC007375.1-
-
-
-
1Loss-
AC007846.2-
-
-
-
1Loss-
AC008982.1-
-
-
-
3Gain-
AC009119.2-
-
-
-
3Gain-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC009336.2-
-
-
-
3Gain-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC012213.5-
-
-
-
4Gain-
AC012531.2-
-
-
-
1Loss-
AC018523.2-
-
-
-
1Loss-
AC020636.2-
-
-
-
5Amp-
AC021660.3-
-
-
-
4Gain-
AC022384.1-
-
-
-
1Loss-
AC022400.6-
-
-
-
1Loss-
AC022826.2-
-
-
-
3Gain-
AC023055.1-
-
-
-
1Loss-
AC023509.3-
-
-
-
1Loss-
AC025165.3-
-
-
-
1Loss-
AC025263.2-
-
-
-
1Loss-
AC025287.4-
-
-
-
1Loss-
AC026316.5-
-
-
-
5Amp-
AC026954.2-
-
-
-
1Loss-
AC027644.4-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC034102.2-
-
-
-
1Loss-
AC036214.3-
-
-
-
3Gain-
AC037459.1-
-
-
-
1Loss-
AC055811.2-
-
-
-
1Loss-
AC067752.1-
-
-
-
1Loss-
AC068580.4-
-
-
-
1Loss-
AC068631.2-
-
-
-
7Amp-
AC068896.1-
-
-
-
1Loss-
AC068946.1-
-
-
-
3Gain-
AC068946.2-
-
-
-
3Gain-
AC069257.3-
-
-
-
7Amp-
AC069444.2-
-
-
-
5Amp-
AC073610.2-
-
-
-
1Loss-
AC073610.3-
-
-
-
1Loss-
AC073612.1-
-
-
-
1Loss-
AC073896.1-
-
-
-
1Loss-
AC078927.1-
-
-
-
1Loss-
AC079594.2-
-
-
-
5Amp-
AC083800.1-
-
-
-
5Amp-
AC084337.2-
-
-
-
1Loss-
AC090004.1-
-
-
-
1Loss-
AC092042.3-
-
-
-
1Loss-
AC093155.3-
-
-
-
1Loss-
AC093423.3-
-
-
-
1Loss-
AC096887.1-
-
-
-
1Loss-
AC097104.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098588.1-
-
-
-
3Gain-
AC098650.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC100868.1-
-
-
-
4Gain-
AC104151.1-
-
-
-
1Loss-
AC104304.1-
-
-
-
1Loss-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC104472.3-
-
-
-
5Amp-
AC104581.2-
-
-
-
1Loss-
AC107959.5-
-
-
-
1Loss-
AC109583.3-
-
-
-
1Loss-
AC110275.1-
-
-
-
3Gain-
AC112128.1-
-
-
-
4Gain-
AC112504.2-
-
-
-
5Amp-
AC113348.2-
-
-
-
1Loss-
AC117378.1-
-
-
-
1Loss-
AC117457.1-
-
-
-
5Amp-
AC118549.1-
-
-
-
1Loss-
AC118553.2-
-
-
-
1Loss-
AC120057.2-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC131097.2-
-
-
-
1Loss-
AC131160.1-
-
-
-
7Amp-
AC137834.1-
-
-
-
1Loss-
AC138647.1-
-
-
-
4Gain-
AC138696.1-
-
-
-
4Gain-
AC139491.7-
-
-
-
1Loss-
AC144573.1-
-
-
-
3Gain-
AC187653.1-
-
-
-
1Loss-
AC239799.1-
-
-
-
3Gain-
AC243547.3-
-
-
-
3Gain-
ACAA1-
-
-
-
1Loss-
ACACB-
-
-
-
1Loss-
ACAD10-
-
-
-
1Loss-
ACAD11-
-
-
-
5Amp-
ACAD8-
-
-
-
1Loss-
ACAD9-
-
-
-
5Amp-
ACADL-
-
-
-
3Gain-
ACADM-
-
-
-
1Loss-
ACADSB-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACAP2-
-
-
-
7Amp-
ACAT1-
-
-
-
1Loss-
ACBD6-
-
-
-
3Gain-
ACCS-
-
-
-
1Loss-
ACCSL-
-
-
-
1Loss-
ACER3-
-
-
-
1Loss-
ACIN1-
-
-
-
5Amp-
ACKR1-
-
-
-
3Gain-
ACKR2-
-
-
-
1Loss-
ACKR3-
-
-
-
1Loss-
ACKR4-
-
-
-
5Amp-
ACOT1-
-
-
-
1Loss-
ACOT13-
-
-
-
1Loss-
ACOT2-
-
-
-
1Loss-
ACOT4-
-
-
-
1Loss-
ACOT6-
-
-
-
1Loss-
ACOX2-
-
-
-
1Loss-
ACOXLp.L254*
Frame_Shift_Del
DEL
0.521
2--
ACP2-
-
-
-
1Loss-
ACP6-
-
-
-
3Gain-
ACPP-
-
-
-
5Amp-
ACRV1-
-
-
-
1Loss-
ACSL3-
-
-
-
3Gain-
ACSL5-
-
-
-
1Loss-
ACSM6-
-
-
-
1Loss-
ACSS3-
-
-
-
1Loss-
ACTA2-
-
-
-
1Loss-
ACTB-
-
-
-
3Gain-
ACTL6A-
-
-
-
5Amp-
ACTL7A-
-
-
-
3Gain-
ACTL7B-
-
-
-
3Gain-
ACTN1-
-
-
-
1Loss-
ACTR10-
-
-
-
1Loss-
ACTR1A-
-
-
-
1Loss-
ACTR6-
-
-
-
1Loss-
ACTR8-
-
-
-
1Loss-
ACTRT3-
-
-
-
5Amp-
ACVR1B-
-
-
-
1Loss-
ACVR2B-
-
-
-
1Loss-
ACVRL1-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
ACY3-
-
-
-
1Loss-
ACYP1-
-
-
-
1Loss-
ADAD1-
-
-
-
3Gain-
ADAD2-
-
-
-
3Gain-
ADAM12-
-
-
-
1Loss-
ADAM15-
-
-
-
3Gain-
ADAM18-
-
-
-
3Gain-
ADAM2-
-
-
-
3Gain-
ADAM20-
-
-
-
1Loss-
ADAM21-
-
-
-
1Loss-
ADAM23-
-
-
-
3Gain-
ADAM28-
-
-
-
1Loss-
ADAM30-
-
-
-
1Loss-
ADAM32-
-
-
-
3Gain-
ADAM7-
-
-
-
1Loss-
ADAM8-
-
-
-
1Loss-
ADAM9-
-
-
-
3Gain-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS14-
-
-
-
1Loss-
ADAMTS15-
-
-
-
1Loss-
ADAMTS16-
-
-
-
3Gain-
ADAMTS18-
-
-
-
1Loss-
ADAMTS2-
-
-
-
1Loss-
ADAMTS20-
-
-
-
1Loss-
ADAMTS4-
-
-
-
3Gain-
ADAMTS8-
-
-
-
1Loss-
ADAMTS9-
-
-
-
1Loss-
ADAMTSL4-
-
-
-
3Gain-
ADAP1-
-
-
-
1Loss-
ADAR-
-
-
-
3Gain-
ADAT1-
-
-
-
1Loss-
ADAT2-
-
-
-
1Loss-
ADCK1-
-
-
-
1Loss-
ADCK5-
-
-
-
4Gain-
ADCY10-
-
-
-
3Gain-
ADCY2-
-
-
-
3Gain-
ADCY4-
-
-
-
1Loss-
ADCY5-
-
-
-
5Amp-
ADCY6-
-
-
-
1Loss-
ADCY8-
-
-
-
4Gain-
ADCYAP1-
-
-
-
3Gain-
ADD3-
-
-
-
1Loss-
ADGB-
-
-
-
1Loss-
ADGRA1-
-
-
-
1Loss-
ADGRA2-
-
-
-
3Gain-
ADGRB1-
-
-
-
4Gain-
ADGRF1-
-
-
-
1Loss-
ADGRF2-
-
-
-
1Loss-
ADGRF4-
-
-
-
1Loss-
ADGRF5-
-
-
-
1Loss-
ADGRG6-
-
-
-
1Loss-
ADGRG7-
-
-
-
4Gain-
ADGRL2-
-
-
-
1Loss-
ADGRL4-
-
-
-
1Loss-
ADHFE1-
-
-
-
3Gain-
ADIPOQ-
-
-
-
7Amp-
ADIRF-
-
-
-
1Loss-
ADK-
-
-
-
1Loss-
ADM-
-
-
-
1Loss-
ADO-
-
-
-
1Loss-
ADORA2B-
-
-
-
1Loss-
ADORA3-
-
-
-
1Loss-
ADPRH-
-
-
-
5Amp-
ADPRM-
-
-
-
1Loss-
ADRA1A-
-
-
-
1Loss-
ADRA1B-
-
-
-
1Loss-
ADRA2A-
-
-
-
1Loss-
ADRB1-
-
-
-
1Loss-
ADRB3-
-
-
-
3Gain-
ADTRP-
-
-
-
1Loss-
AFAP1L2-
-
-
-
1Loss-
AGAP1-
-
-
-
1Loss-
AGAP2-
-
-
-
1Loss-
AGAP4-
-
-
-
1Loss-
AGAP5-
-
-
-
1Loss-
AGAP6-
-
-
-
1Loss-
AGAP9-
-
-
-
1Loss-
AGBL2-
-
-
-
1Loss-
AGER-
-
-
-
1Loss-
AGFG1-
-
-
-
3Gain-
AGL-
-
-
-
1Loss-
AGO2-
-
-
-
4Gain-
AGPAT1-
-
-
-
1Loss-
AGPS-
-
-
-
3Gain-
AGTPBP1-
-
-
-
3Gain-
AGTR1-
-
-
-
5Amp-
AGXT-
-
-
-
1Loss-
AHCYL1-
-
-
-
1Loss-
AHI1-
-
-
-
1Loss-
AHNAK-
-
-
-
1Loss-
AHRR-
-
-
-
3Gain-
AHSA1-
-
-
-
1Loss-
AHSG-
-
-
-
7Amp-
AIF1-
-
-
-
1Loss-
AIFM2-
-
-
-
1Loss-
AIG1-
-
-
-
1Loss-
AIM2-
-
-
-
3Gain-
AIMP2-
-
-
-
3Gain-
AIP-
-
-
-
1Loss-
AIPL1-
-
-
-
1Loss-
AJUBA-
-
-
-
5Amp-
AK3-
-
-
-
1Loss-
AK5-
-
-
-
1Loss-
AKAP10-
-
-
-
1Loss-
AKAP12-
-
-
-
1Loss-
AKAP2-
-
-
-
3Gain-
AKAP5-
-
-
-
1Loss-
AKAP6-
-
-
-
1Loss-
AKAP7-
-
-
-
1Loss-
AKIP1-
-
-
-
1Loss-
AKNA-
-
-
-
3Gain-
AKNAD1-
-
-
-
1Loss-
AL021997.3-
-
-
-
1Loss-
AL024498.2-
-
-
-
1Loss-
AL031777.3-
-
-
-
1Loss-
AL035078.4-
-
-
-
1Loss-
AL049557.1-
-
-
-
1Loss-
AL049629.2-
-
-
-
1Loss-
AL049779.1-
-
-
-
1Loss-
AL049844.1-
-
-
-
1Loss-
AL049844.3-
-
-
-
1Loss-
AL096814.1-
-
-
-
1Loss-
AL096870.1-
-
-
-
1Loss-
AL121594.1-
-
-
-
1Loss-
AL132780.3-
-
-
-
5Amp-
AL133352.1-
-
-
-
1Loss-
AL133353.2-
-
-
-
1Loss-
AL136295.1-
-
-
-
1Loss-
AL136295.3-
-
-
-
1Loss-
AL136295.4-
-
-
-
1Loss-
AL136295.5-
-
-
-
1Loss-
AL139011.2-
-
-
-
3Gain-
AL139142.2-
-
-
-
3Gain-
AL139353.1-
-
-
-
1Loss-
AL160269.1-
-
-
-
3Gain-
AL163195.3-
-
-
-
1Loss-
AL163636.2-
-
-
-
1Loss-
AL353588.1-
-
-
-
1Loss-
AL355312.5-
-
-
-
1Loss-
AL355315.1-
-
-
-
1Loss-
AL355916.2-
-
-
-
1Loss-
AL358113.1-
-
-
-
3Gain-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL360181.3-
-
-
-
1Loss-
AL365205.1-
-
-
-
1Loss-
AL365273.2-
-
-
-
1Loss-
AL449266.1-
-
-
-
1Loss-
AL512428.1-
-
-
-
1Loss-
AL512785.2-
-
-
-
3Gain-
AL583836.1-
-
-
-
1Loss-
AL591806.3-
-
-
-
3Gain-
AL603832.3-
-
-
-
1Loss-
AL645922.1-
-
-
-
1Loss-
AL645941.2-
-
-
-
1Loss-
AL662884.4-
-
-
-
1Loss-
AL662899.1-
-
-
-
1Loss-
AL662899.2-
-
-
-
1Loss-
AL669918.1-
-
-
-
1Loss-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
ALAD-
-
-
-
3Gain-
ALAS1-
-
-
-
1Loss-
ALCAM-
-
-
-
4Gain-
ALDH18A1-
-
-
-
1Loss-
ALDH1A1-
-
-
-
3Gain-
ALDH1L1-
-
-
-
5Amp-
ALDH1L2-
-
-
-
1Loss-
ALDH2-
-
-
-
1Loss-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH3B1-
-
-
-
1Loss-
ALDH3B2-
-
-
-
1Loss-
ALDH5A1-
-
-
-
1Loss-
ALDH6A1-
-
-
-
1Loss-
ALDH8A1-
-
-
-
1Loss-
ALDH9A1-
-
-
-
3Gain-
ALDOB-
-
-
-
3Gain-
ALG10B-
-
-
-
1Loss-
ALG14-
-
-
-
1Loss-
ALG1L-
-
-
-
5Amp-
ALG1L2-
-
-
-
5Amp-
ALG2-
-
-
-
3Gain-
ALG3-
-
-
-
7Amp-
ALG8-
-
-
-
1Loss-
ALG9-
-
-
-
1Loss-
ALKAL1-
-
-
-
3Gain-
ALKBH1-
-
-
-
1Loss-
ALKBH2-
-
-
-
1Loss-
ALKBH3-
-
-
-
1Loss-
ALKBH5-
-
-
-
1Loss-
ALKBH8-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOX5-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
ALPG-
-
-
-
1Loss-
ALPI-
-
-
-
1Loss-
ALPP-
-
-
-
1Loss-
ALS2-
-
-
-
3Gain-
ALS2CL-
-
-
-
1Loss-
ALS2CR12-
-
-
-
3Gain-
ALX1-
-
-
-
1Loss-
ALX3-
-
-
-
1Loss-
ALX4-
-
-
-
1Loss-
ALYREF-
-
-
-
1Loss-
AMBP-
-
-
-
3Gain-
AMBRA1-
-
-
-
1Loss-
AMDHD1-
-
-
-
1Loss-
AMHR2-
-
-
-
1Loss-
AMIGO1-
-
-
-
1Loss-
AMIGO2-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMOTL1-
-
-
-
9Amp-
AMOTL2-
-
-
-
5Amp-
AMPD1-
-
-
-
1Loss-
AMPD2-
-
-
-
1Loss-
AMPD3-
-
-
-
1Loss-
AMT-
-
-
-
1Loss-
AMY1A-
-
-
-
1Loss-
AMY1B-
-
-
-
1Loss-
AMY1C-
-
-
-
1Loss-
AMY2A-
-
-
-
1Loss-
AMY2B-
-
-
-
1Loss-
AMZ1-
-
-
-
3Gain-
ANAPC10-
-
-
-
3Gain-
ANAPC11-
-
-
-
1Loss-
ANAPC13-
-
-
-
5Amp-
ANAPC15-
-
-
-
1Loss-
ANAPC16-
-
-
-
1Loss-
ANAPC7-
-
-
-
1Loss-
ANG-
-
-
-
1Loss-
ANGEL1-
-
-
-
1Loss-
ANGPT1-
-
-
-
4Gain-
ANGPTL1-
-
-
-
3Gain-
ANGPTL5-
-
-
-
12Amp-
ANK1-
-
-
-
3Gain-
ANK3-
-
-
-
1Loss-
ANKAR-
-
-
-
3Gain-
ANKFY1-
-
-
-
1Loss-
ANKH-
-
-
-
3Gain-
ANKK1-
-
-
-
1Loss-
ANKMY1-
-
-
-
1Loss-
ANKRD1-
-
-
-
1Loss-
ANKRD13A-
-
-
-
1Loss-
ANKRD13C-
-
-
-
1Loss-
ANKRD2-
-
-
-
1Loss-
ANKRD22-
-
-
-
1Loss-
ANKRD28-
-
-
-
1Loss-
ANKRD33-
-
-
-
1Loss-
ANKRD33B-
-
-
-
3Gain-
ANKRD34A-
-
-
-
3Gain-
ANKRD35-
-
-
-
3Gain-
ANKRD42-
-
-
-
1Loss-
ANKRD44-
-
-
-
3Gain-
ANKRD45-
-
-
-
3Gain-
ANKRD46-
-
-
-
4Gain-
ANKRD49-
-
-
-
9Amp-
ANKRD50-
-
-
-
3Gain-
ANKRD52-
-
-
-
1Loss-
ANKRD61-
-
-
-
3Gain-
ANKRD62p.E406K
Missense
SNP
0.429
2--
ANKRD66-
-
-
-
1Loss-
ANKS1A-
-
-
-
1Loss-
ANKS1B-
-
-
-
1Loss-
ANKS6-
-
-
-
3Gain-
ANKUB1-
-
-
-
5Amp-
ANKZF1-
-
-
-
3Gain-
ANO1-
-
-
-
15Amp-
ANO10-
-
-
-
1Loss-
ANO3-
-
-
-
1Loss-
ANO4-
-
-
-
1Loss-
ANO5-
-
-
-
1Loss-
ANO6-
-
-
-
1Loss-
ANO7-
-
-
-
1Loss-
ANO9-
-
-
-
1Loss-
ANP32B-
-
-
-
3Gain-
ANP32D-
-
-
-
1Loss-
ANP32E-
-
-
-
3Gain-
ANTXRL-
-
-
-
1Loss-
ANXA1-
-
-
-
3Gain-
ANXA10-
-
-
-
3Gain-
ANXA11-
-
-
-
1Loss-
ANXA13-
-
-
-
4Gain-
ANXA5-
-
-
-
3Gain-
ANXA7-
-
-
-
1Loss-
ANXA8-
-
-
-
1Loss-
ANXA8L1-
-
-
-
1Loss-
ANXA9-
-
-
-
3Gain-
AOX1-
-
-
-
3Gain-
AP000646.1-
-
-
-
1Loss-
AP000721.1-
-
-
-
1Loss-
AP000812.4-
-
-
-
1Loss-
AP000812.5-
-
-
-
1Loss-
AP001267.5-
-
-
-
1Loss-
AP001273.2-
-
-
-
1Loss-
AP001458.2-
-
-
-
1Loss-
AP001781.2-
-
-
-
1Loss-
AP002373.1-
-
-
-
1Loss-
AP002495.1-
-
-
-
1Loss-
AP002884.3-
-
-
-
1Loss-
AP002990.1-
-
-
-
1Loss-
AP003108.2-
-
-
-
1Loss-
AP003419.1-
-
-
-
1Loss-
AP1G2-
-
-
-
5Amp-
AP1S3-
-
-
-
3Gain-
AP2A2-
-
-
-
1Loss-
AP2M1-
-
-
-
7Amp-
AP3M1-
-
-
-
1Loss-
AP3M2-
-
-
-
3Gain-
AP4B1-
-
-
-
1Loss-
AP4S1-
-
-
-
1Loss-
AP5M1-
-
-
-
1Loss-
AP5Z1-
-
-
-
3Gain-
APAF1-
-
-
-
1Loss-
APBA1-
-
-
-
3Gain-
APBB1-
-
-
-
1Loss-
APCS-
-
-
-
3Gain-
APEH-
-
-
-
1Loss-
APEX1-
-
-
-
1Loss-
APH1A-
-
-
-
3Gain-
API5-
-
-
-
1Loss-
APIP-
-
-
-
1Loss-
APLP2-
-
-
-
1Loss-
APOA1-
-
-
-
1Loss-
APOA2-
-
-
-
3Gain-
APOA4-
-
-
-
1Loss-
APOA5-
-
-
-
1Loss-
APOBEC2-
-
-
-
1Loss-
APOBEC4-
-
-
-
3Gain-
APOC3-
-
-
-
1Loss-
APOD-
-
-
-
7Amp-
APOF-
-
-
-
1Loss-
APOM-
-
-
-
1Loss-
APPL1-
-
-
-
1Loss-
APPL2-
-
-
-
1Loss-
APRT-
-
-
-
1Loss-
AQP10-
-
-
-
3Gain-
AQP11-
-
-
-
1Loss-
AQP12A-
-
-
-
1Loss-
AQP12B-
-
-
-
1Loss-
AQP2-
-
-
-
1Loss-
AQP5-
-
-
-
1Loss-
AQP6-
-
-
-
1Loss-
ARAP1-
-
-
-
1Loss-
ARC-
-
-
-
4Gain-
ARCN1-
-
-
-
1Loss-
AREL1-
-
-
-
1Loss-
ARF3-
-
-
-
1Loss-
ARF4-
-
-
-
1Loss-
ARFGAP2-
-
-
-
1Loss-
ARFGEF1-
-
-
-
3Gain-
ARFGEF3-
-
-
-
1Loss-
ARFIP1-
-
-
-
3Gain-
ARFIP2-
-
-
-
1Loss-
ARG1-
-
-
-
1Loss-
ARG2-
-
-
-
1Loss-
ARGFX-
-
-
-
5Amp-
ARGLU1-
-
-
-
1Loss-
ARHGAP1-
-
-
-
1Loss-
ARHGAP10-
-
-
-
3Gain-
ARHGAP19-
-
-
-
1Loss-
ARHGAP19-SLIT1-
-
-
-
1Loss-
ARHGAP20-
-
-
-
1Loss-
ARHGAP22-
-
-
-
1Loss-
ARHGAP29-
-
-
-
1Loss-
ARHGAP30-
-
-
-
3Gain-
ARHGAP31-
-
-
-
5Amp-
ARHGAP32-
-
-
-
1Loss-
ARHGAP39-
-
-
-
4Gain-
ARHGAP42-
-
-
-
12Amp-
ARHGAP44-
-
-
-
1Loss-
ARHGAP5-
-
-
-
1Loss-
ARHGAP9-
-
-
-
1Loss-
ARHGDIA-
-
-
-
1Loss-
ARHGEF11-
-
-
-
3Gain-
ARHGEF12-
-
-
-
1Loss-
ARHGEF17-
-
-
-
1Loss-
ARHGEF2-
-
-
-
3Gain-
ARHGEF25-
-
-
-
1Loss-
ARHGEF26-
-
-
-
5Amp-
ARHGEF3-
-
-
-
1Loss-
ARHGEF40-
-
-
-
1Loss-
ARHGEF5-
-
-
-
1Loss-
ARID2-
-
-
-
1Loss-
ARID4A-
-
-
-
1Loss-
ARID5B-
-
-
-
1Loss-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL1-
-
-
-
1Loss-
ARL10-
-
-
-
1Loss-
ARL13B-
-
-
-
4Gain-
ARL14-
-
-
-
5Amp-
ARL14EP-
-
-
-
1Loss-
ARL15-
-
-
-
2-EPB41L4A--ARL15
ARL3-
-
-
-
1Loss-
ARL4C-
-
-
-
1Loss-
ARL6-
-
-
-
5Amp-
ARL6IP5-
-
-
-
1Loss-
ARL8B-
-
-
-
1Loss-
ARMC1-
-
-
-
3Gain-
ARMC12-
-
-
-
1Loss-
ARMC8-
-
-
-
5Amp-
ARMC9-
-
-
-
1Loss-
ARMH2-
-
-
-
1Loss-
ARMH3-
-
-
-
1Loss-
ARMH4-
-
-
-
1Loss-
ARMS2-
-
-
-
1Loss-
ARMT1-
-
-
-
1Loss-
ARNT-
-
-
-
3Gain-
ARNTL-
-
-
-
1Loss-
ARPC2-
-
-
-
3Gain-
ARPC3-
-
-
-
1Loss-
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARPC5-
-
-
-
3Gain-
ARPP21-
-
-
-
1Loss-
ARRB1-
-
-
-
1Loss-
ARRB2-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
AS3MT-
-
-
-
1Loss-
ASAH1-
-
-
-
1Loss-
ASAH2-
-
-
-
1Loss-
ASAH2B-
-
-
-
1Loss-
ASAP1-
-
-
-
4Gain-
ASB1-
-
-
-
1Loss-
ASB13-
-
-
-
3Gain-
ASB14-
-
-
-
1Loss-
ASB17-
-
-
-
1Loss-
ASB18-
-
-
-
1Loss-
ASB8-
-
-
-
1Loss-
ASCC1-
-
-
-
1Loss-
ASCL1-
-
-
-
1Loss-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASCL4-
-
-
-
1Loss-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH1L-
-
-
-
3Gain-
ASH2L-
-
-
-
3Gain-
ASIC1-
-
-
-
1Loss-
ASIC4-
-
-
-
3Gain-
ASIC5-
-
-
-
3Gain-
ASNSD1-
-
-
-
3Gain-
ASPA-
-
-
-
1Loss-
ASPH-
-
-
-
3Gain-
ASPN-
-
-
-
3Gain-
ASPSCR1-
-
-
-
1Loss-
ASRGL1-
-
-
-
1Loss-
ASTE1-
-
-
-
5Amp-
ASTN1-
-
-
-
3Gain-
ATAD1-
-
-
-
1Loss-
ATAD2-
-
-
-
4Gain-
ATAT1-
-
-
-
1Loss-
ATE1-
-
-
-
1Loss-
ATF1-
-
-
-
1Loss-
ATF2-
-
-
-
3Gain-
ATF6-
-
-
-
3Gain-
ATF6B-
-
-
-
1Loss-
ATF7-
-
-
-
1Loss-
ATG101-
-
-
-
1Loss-
ATG13-
-
-
-
1Loss-
ATG14-
-
-
-
1Loss-
ATG16L1-
-
-
-
1Loss-
ATG16L2-
-
-
-
1Loss-
ATG3-
-
-
-
4Gain-
ATG4B-
-
-
-
1Loss-
ATG7-
-
-
-
1Loss-
ATG9A-
-
-
-
3Gain-
ATIC-
-
-
-
3Gain-
ATL1-
-
-
-
3Gain-
ATL3-
-
-
-
1Loss-
ATM-
-
-
-
1Loss-
ATOH7-
-
-
-
1Loss-
ATP10B-
-
-
-
1Loss-
ATP11B-
-
-
-
7Amp-
ATP13A3-
-
-
-
7Amp-
ATP13A4-
-
-
-
7Amp-
ATP13A5-
-
-
-
7Amp-
ATP1A1-
-
-
-
1Loss-
ATP1A2-
-
-
-
3Gain-
ATP1A4-
-
-
-
3Gain-
ATP1B1-
-
-
-
3Gain-
ATP1B2-
-
-
-
1Loss-
ATP1B3-
-
-
-
5Amp-
ATP23-
-
-
-
1Loss-
ATP2A2-
-
-
-
1Loss-
ATP2A3-
-
-
-
1Loss-
ATP2B1-
-
-
-
1Loss-
ATP2B2-
-
-
-
1Loss-
ATP2C1-
-
-
-
5Amp-
ATP2C2-
-
-
-
3Gain-
ATP5F1B-
-
-
-
1Loss-
ATP5MC2-
-
-
-
1Loss-
ATP5MC3-
-
-
-
3Gain-
ATP5MG-
-
-
-
1Loss-
ATP5PB-
-
-
-
1Loss-
ATP5S-
-
-
-
3Gain-
ATP6V0D2-
-
-
-
4Gain-
ATP6V0E1-
-
-
-
1Loss-
ATP6V1A-
-
-
-
4Gain-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1C1-
-
-
-
4Gain-
ATP6V1D-
-
-
-
1Loss-
ATP6V1E1-
-
-
-
1Loss-
ATP6V1G1-
-
-
-
3Gain-
ATP6V1G2-
-
-
-
1Loss-
ATP6V1G2-DDX39B-
-
-
-
1Loss-
ATP6V1H-
-
-
-
3Gain-
ATP8B2-
-
-
-
3Gain-
ATPAF2-
-
-
-
1Loss-
ATR-
-
-
-
5Amp-
ATRIP-
-
-
-
1Loss-
ATRNL1-
-
-
-
1Loss-
ATXN1-
-
-
-
1Loss-
ATXN2-
-
-
-
1Loss-
ATXN7-
-
-
-
1Loss-
ATXN7L2-
-
-
-
1Loss-
ATXN7L3B-
-
-
-
1Loss-
AUH-
-
-
-
3Gain-
AURKB-
-
-
-
1Loss-
AVIL-
-
-
-
1Loss-
AVPI1-
-
-
-
1Loss-
AVPR1A-
-
-
-
1Loss-
AXDND1-
-
-
-
3Gain-
AZI2-
-
-
-
1Loss-
AZIN1-
-
-
-
4Gain-
B3GALNT1-
-
-
-
5Amp-
B3GALT2-
-
-
-
3Gain-
B3GALT4-
-
-
-
1Loss-
B3GAT1-
-
-
-
1Loss-
B3GAT3-
-
-
-
1Loss-
B3GNT5-
-
-
-
7Amp-
B3GNT6-
-
-
-
1Loss-
B3GNT7-
-
-
-
1Loss-
B3GNTL1-
-
-
-
1Loss-
B4GALNT1-
-
-
-
1Loss-
B4GALNT4-
-
-
-
1Loss-
B4GALT3-
-
-
-
3Gain-
B4GALT4-
-
-
-
5Amp-
B4GALT7-
-
-
-
1Loss-
B9D1-
-
-
-
1Loss-
BAALC-
-
-
-
4Gain-
BAAT-
-
-
-
3Gain-
BACE1-
-
-
-
1Loss-
BAD-
-
-
-
1Loss-
BAG3-
-
-
-
1Loss-
BAG4-
-
-
-
3Gain-
BAG6-
-
-
-
1Loss-
BAK1-
-
-
-
1Loss-
BANP-
-
-
-
1Loss-
BAP1-
-
-
-
1Loss-
BARD1-
-
-
-
3Gain-
BARHL2-
-
-
-
1Loss-
BARX1-
-
-
-
3Gain-
BARX2-
-
-
-
1Loss-
BASP1-
-
-
-
3Gain-
BATF-
-
-
-
1Loss-
BAZ1A-
-
-
-
1Loss-
BAZ2A-
-
-
-
1Loss-
BBIP1-
-
-
-
1Loss-
BBOF1-
-
-
-
1Loss-
BBOX1-
-
-
-
1Loss-
BBS10-
-
-
-
1Loss-
BBS12-
-
-
-
3Gain-
BBS7-
-
-
-
3Gain-
BBX-
-
-
-
4Gain-
BCAN-
-
-
-
3Gain-
BCAR1-
-
-
-
1Loss-
BCAR3-
-
-
-
1Loss-
BCAS2-
-
-
-
1Loss-
BCCIP-
-
-
-
1Loss-
BCDIN3D-
-
-
-
1Loss-
BCHE-
-
-
-
5Amp-
BCL10-
-
-
-
1Loss-
BCL2L13-
-
-
-
1Loss-
BCL2L15-
-
-
-
1Loss-
BCL2L2-
-
-
-
5Amp-
BCL2L2-PABPN1-
-
-
-
5Amp-
BCL6-
-
-
-
7Amp-
BCL6B-
-
-
-
1Loss-
BCL9-
-
-
-
3Gain-
BCL9L-
-
-
-
1Loss-
BCLAF1-
-
-
-
1Loss-
BCO2-
-
-
-
1Loss-
BCS1L-
-
-
-
3Gain-
BDH1-
-
-
-
7Amp-
BDNF-
-
-
-
1Loss-
BEST1-
-
-
-
1Loss-
BEST3-
-
-
-
1Loss-
BET1L-
-
-
-
1Loss-
BFSP2-
-
-
-
5Amp-
BGLAP-
-
-
-
3Gain-
BHLHA9-
-
-
-
1Loss-
BHLHE22-
-
-
-
3Gain-
BHLHE40-
-
-
-
1Loss-
BHMT2-
-
-
-
3Gain-
BICC1-
-
-
-
1Loss-
BICD2-
-
-
-
3Gain-
BICDL2p.E177*
Nonsense
SNP
0.541
2--
BICRAL-
-
-
-
1Loss-
BID-
-
-
-
1Loss-
BIN2-
-
-
-
1Loss-
BIN3-
-
-
-
1Loss-
BIRC2-
-
-
-
12Amp-
BIRC3-
-
-
-
12Amp-
BIVM-
-
-
-
1Loss-
BIVM-ERCC5-
-
-
-
1Loss-
BLID-
-
-
-
1Loss-
BLNK-
-
-
-
1Loss-
BLOC1S1-
-
-
-
1Loss-
BLOC1S1-RDH5-
-
-
-
1Loss-
BLOC1S2-
-
-
-
1Loss-
BLOC1S5-
-
-
-
1Loss-
BLOC1S5-TXNDC5-
-
-
-
1Loss-
BLZF1-
-
-
-
3Gain-
BMP1-
-
-
-
1Loss-
BMP4-
-
-
-
1Loss-
BMP5-
-
-
-
1Loss-
BMP6-
-
-
-
1Loss-
BMPR1A-
-
-
-
1Loss-
BMPR2-
-
-
-
3Gain-
BMS1-
-
-
-
1Loss-
BNIP1-
-
-
-
1Loss-
BNIP3-
-
-
-
1Loss-
BNIP3L-
-
-
-
1Loss-
BNIPL-
-
-
-
3Gain-
BOC-
-
-
-
4Gain-
BOD1-
-
-
-
1Loss-
BOK-
-
-
-
1Loss-
BOLA1-
-
-
-
3Gain-
BOLL-
-
-
-
3Gain-
BOP1-
-
-
-
3Gain-
BORCS6-
-
-
-
1Loss-
BORCS7-
-
-
-
1Loss-
BORCS7-ASMT-
-
-
-
1Loss-
BPHL-
-
-
-
1Loss-
BRAP-
-
-
-
1Loss-
BRAT1-
-
-
-
3Gain-
BRD2-
-
-
-
1Loss-
BRD9-
-
-
-
3Gain-
BRDT-
-
-
-
1Loss-
BRF2-
-
-
-
3Gain-
BRICD5-
-
-
-
3Gain-
BRINP2-
-
-
-
3Gain-
BRINP3-
-
-
-
3Gain-
BRK1-
-
-
-
1Loss-
BRMS1L-
-
-
-
1Loss-
BRPF1-
-
-
-
1Loss-
BRPF3-
-
-
-
1Loss-
BRSK2-
-
-
-
1Loss-
BSCL2-
-
-
-
1Loss-
BSN-
-
-
-
1Loss-
BSPRY-
-
-
-
3Gain-
BSX-
-
-
-
1Loss-
BTAF1-
-
-
-
1Loss-
BTBD10-
-
-
-
1Loss-
BTBD11-
-
-
-
1Loss-
BTBD16-
-
-
-
1Loss-
BTBD8-
-
-
-
1Loss-
BTBD9-
-
-
-
1Loss-
BTD-
-
-
-
1Loss-
BTG1-
-
-
-
1Loss-
BTG4-
-
-
-
1Loss-
BTLA-
-
-
-
4Gain-
BTN1A1-
-
-
-
1Loss-
BTN2A1-
-
-
-
1Loss-
BTN2A2-
-
-
-
1Loss-
BTN3A1-
-
-
-
1Loss-
BTN3A2-
-
-
-
1Loss-
BTN3A3-
-
-
-
1Loss-
BTNL2-
-
-
-
1Loss-
BTNL3-
-
-
-
1Loss-
BTNL8-
-
-
-
1Loss-
BTNL9-
-
-
-
1Loss-
BTRC-
-
-
-
1Loss-
BUB3-
-
-
-
1Loss-
BUD13-
-
-
-
1Loss-
BYSL-
-
-
-
1Loss-
BZW1-
-
-
-
3Gain-
C10orf105-
-
-
-
1Loss-
C10orf120-
-
-
-
1Loss-
C10orf53-
-
-
-
1Loss-
C10orf55-
-
-
-
1Loss-
C10orf62-
-
-
-
1Loss-
C10orf71-
-
-
-
1Loss-
C10orf82-
-
-
-
1Loss-
C10orf88-
-
-
-
1Loss-
C10orf90-
-
-
-
1Loss-
C10orf99-
-
-
-
1Loss-
C11orf1-
-
-
-
1Loss-
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf24-
-
-
-
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf45-
-
-
-
1Loss-
C11orf49-
-
-
-
1Loss-
C11orf52-
-
-
-
1Loss-
C11orf53-
-
-
-
1Loss-
C11orf54-
-
-
-
1Loss-
C11orf58-
-
-
-
1Loss-
C11orf65-
-
-
-
1Loss-
C11orf71-
-
-
-
1Loss-
C11orf74-
-
-
-
1Loss-
C11orf87-
-
-
-
1Loss-
C11orf88-
-
-
-
1Loss-
C11orf91-
-
-
-
1Loss-
C11orf94-
-
-
-
1Loss-
C11orf95-
-
-
-
1Loss-
C11orf96-
-
-
-
1Loss-
C11orf97-
-
-
-
9Amp-
C11orf98-
-
-
-
1Loss-
C12orf10-
-
-
-
1Loss-
C12orf29-
-
-
-
1Loss-
C12orf40-
-
-
-
1Loss-
C12orf42-
-
-
-
1Loss-
C12orf45-
-
-
-
1Loss-
C12orf50-
-
-
-
1Loss-
C12orf54-
-
-
-
1Loss-
C12orf56-
-
-
-
1Loss-
C12orf66-
-
-
-
1Loss-
C12orf73-
-
-
-
1Loss-
C12orf75-
-
-
-
1Loss-
C12orf76-
-
-
-
1Loss-
C14orf119-
-
-
-
5Amp-
C14orf178-
-
-
-
1Loss-
C14orf28-
-
-
-
1Loss-
C14orf39-
-
-
-
1Loss-
C14orf93-
-
-
-
5Amp-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf51-
-
-
-
1Loss-
C17orf97-
-
-
-
1Loss-
C1GALT1-
-
-
-
3Gain-
C1orf105-
-
-
-
3Gain-
C1orf112-
-
-
-
3Gain-
C1orf141-
-
-
-
1Loss-
C1orf146-
-
-
-
1Loss-
C1orf162-
-
-
-
1Loss-
C1orf189-
-
-
-
3Gain-
C1orf194-
-
-
-
1Loss-
C1orf21-
-
-
-
3Gain-
C1orf226-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf52-
-
-
-
1Loss-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
4Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1QBP-
-
-
-
1Loss-
C1QL4-
-
-
-
1Loss-
C1QTNF2-
-
-
-
1Loss-
C1QTNF4-
-
-
-
1Loss-
C1QTNF5-
-
-
-
1Loss-
C2-
-
-
-
1Loss-
C2CD2L-
-
-
-
1Loss-
C2CD3-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C2CD6-
-
-
-
3Gain-
C2orf66-
-
-
-
3Gain-
C2orf69-
-
-
-
3Gain-
C2orf72-
-
-
-
1Loss-
C2orf80-
-
-
-
3Gain-
C2orf83-
-
-
-
3Gain-
C2orf88-
-
-
-
3Gain-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf20-
-
-
-
1Loss-
C3orf22-
-
-
-
5Amp-
C3orf30-
-
-
-
5Amp-
C3orf33-
-
-
-
5Amp-
C3orf38-
-
-
-
1Loss-
C3orf49-
-
-
-
1Loss-
C3orf52-
-
-
-
4Gain-
C3orf56-
-
-
-
5Amp-
C3orf58-
-
-
-
5Amp-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf70-
-
-
-
7Amp-
C3orf80-
-
-
-
5Amp-
C3orf84-
-
-
-
1Loss-
C3orf85-
-
-
-
4Gain-
C4A-
-
-
-
1Loss-
C4B-
-
-
-
1Loss-
C4orf3-
-
-
-
3Gain-
C4orf33-
-
-
-
3Gain-
C4orf45-
-
-
-
3Gain-
C4orf46-
-
-
-
3Gain-
C4orf51-
-
-
-
3Gain-
C5orf38-
-
-
-
3Gain-
C5orf47-
-
-
-
1Loss-
C5orf49-
-
-
-
3Gain-
C5orf58-
-
-
-
1Loss-
C5orf60-
-
-
-
1Loss-
C6orf10-
-
-
-
1Loss-
C6orf106-
-
-
-
1Loss-
C6orf132-
-
-
-
1Loss-
C6orf136-
-
-
-
1Loss-
C6orf141-
-
-
-
1Loss-
C6orf15-
-
-
-
1Loss-
C6orf201-
-
-
-
1Loss-
C6orf222-
-
-
-
1Loss-
C6orf223-
-
-
-
1Loss-
C6orf226-
-
-
-
1Loss-
C6orf47-
-
-
-
1Loss-
C6orf48-
-
-
-
1Loss-
C6orf52-
-
-
-
1Loss-
C6orf62-
-
-
-
1Loss-
C6orf89-
-
-
-
1Loss-
C7orf26-
-
-
-
3Gain-
C7orf50-
-
-
-
1Loss-
C8orf33-
-
-
-
4Gain-
C8orf34-
-
-
-
3Gain-
C8orf37-
-
-
-
4Gain-
C8orf44-
-
-
-
3Gain-
C8orf58-
-
-
-
1Loss-
C8orf59-
-
-
-
3Gain-
C8orf76-
-
-
-
4Gain-
C8orf82-
-
-
-
4Gain-
C8orf86-
-
-
-
3Gain-
C8orf88-
-
-
-
4Gain-
C8orf89-
-
-
-
3Gain-
C9orf129-
-
-
-
3Gain-
C9orf135-
-
-
-
3Gain-
C9orf152-
-
-
-
3Gain-
C9orf153-
-
-
-
3Gain-
C9orf3-
-
-
-
3Gain-
C9orf40-
-
-
-
3Gain-
C9orf43-
-
-
-
3Gain-
C9orf57-
-
-
-
3Gain-
C9orf64-
-
-
-
3Gain-
C9orf66-
-
-
-
1Loss-
C9orf84-
-
-
-
3Gain-
C9orf85-
-
-
-
3GainXPO7--C9orf85
CA1-
-
-
-
3Gain-
CA13-
-
-
-
3Gain-
CA14-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA5A-
-
-
-
1Loss-
CA8-
-
-
-
3Gain-
CAB39-
-
-
-
1Loss-
CABCOCO1-
-
-
-
1Loss-
CABP2-
-
-
-
1Loss-
CABP4-
-
-
-
1Loss-
CACNA1D-
-
-
-
1Loss-
CACNA1E-
-
-
-
3Gain-
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACNB3-
-
-
-
1Loss-
CACUL1-
-
-
-
1Loss-
CACYBP-
-
-
-
3Gain-
CADM1-
-
-
-
1Loss-
CADM2-
-
-
-
1Loss-
CADM3-
-
-
-
3Gain-
CADPS-
-
-
-
1Loss-
CAGE1-
-
-
-
1Loss-
CALB1-
-
-
-
4Gain-
CALCA-
-
-
-
1Loss-
CALCB-
-
-
-
1Loss-
CALCOCO1-
-
-
-
1Loss-
CALCRL-
-
-
-
3Gain-
CALHM1-
-
-
-
1Loss-
CALHM2-
-
-
-
1Loss-
CALHM3-
-
-
-
1Loss-
CALHM4-
-
-
-
3Gain-
CALHM5-
-
-
-
3Gain-
CALHM6-
-
-
-
3Gain-
CALY-
-
-
-
1Loss-
CAMK1-
-
-
-
1Loss-
CAMK2G-
-
-
-
1Loss-
CAMK2N2-
-
-
-
7Amp-
CAMKK1-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMTA2-
-
-
-
1Loss-
CAND1-
-
-
-
1Loss-
CAND2-
-
-
-
1Loss-
CANX-
-
-
-
1Loss-
CAP2-
-
-
-
1Loss-
CAPN10-
-
-
-
1Loss-
CAPN11-
-
-
-
1Loss-
CAPN5-
-
-
-
1Loss-
CAPN7-
-
-
-
1Loss-
CAPRIN1-
-
-
-
1Loss-
CAPS2-
-
-
-
1Loss-
CAPZA1-
-
-
-
1Loss-
CAPZA3-
-
-
-
1Loss-
CARD11-
-
-
-
3Gain-
CARD16-
-
-
-
1Loss-
CARD17-
-
-
-
1Loss-
CARD18-
-
-
-
1Loss-
CARD19-
-
-
-
3Gain-
CARF-
-
-
-
3Gain-
CARMIL1-
-
-
-
1Loss-
CARMIL3-
-
-
-
1Loss-
CARNMT1-
-
-
-
3Gain-
CARNS1-
-
-
-
1Loss-
CARS-
-
-
-
1Loss-
CASC3-
-
-
-
2-CASC3--GSDMA
CASC5p.S2305T
Missense
SNP
0.481
NDND-
CASKIN1-
-
-
-
3Gain-
CASP1-
-
-
-
1Loss-
CASP10-
-
-
-
3Gain-
CASP12-
-
-
-
1Loss-
CASP4-
-
-
-
1Loss-
CASP5-
-
-
-
1Loss-
CASP7-
-
-
-
1Loss-
CASP8-
-
-
-
3Gain-
CASQ1-
-
-
-
3Gain-
CASQ2-
-
-
-
1Loss-
CASR-
-
-
-
5Amp-
CAT-
-
-
-
1Loss-
CATIP-
-
-
-
3Gain-
CATSPERZ-
-
-
-
1Loss-
CAV3-
-
-
-
1Loss-
CAVIN2-
-
-
-
3Gain-
CAVIN3-
-
-
-
1Loss-
CAVIN4-
-
-
-
3Gain-
CBFA2T3-
-
-
-
1Loss-
CBL-
-
-
-
1Loss-
CBLB-
-
-
-
4Gain-
CBLN3-
-
-
-
1Loss-
CBR4-
-
-
-
3Gain-
CBSL-
-
-
-
1Loss-
CBWD1-
-
-
-
1Loss-
CBWD3-
-
-
-
3Gain-
CBX5-
-
-
-
1Loss-
CBY3-
-
-
-
1Loss-
CC2D2B-
-
-
-
1Loss-
CCAR1-
-
-
-
1Loss-
CCAR2-
-
-
-
1Loss-
CCDC12-
-
-
-
1Loss-
CCDC127-
-
-
-
3Gain-
CCDC13-
-
-
-
1Loss-
CCDC14-
-
-
-
5Amp-
CCDC140-
-
-
-
3Gain-
CCDC141-
-
-
-
3Gain-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC15-
-
-
-
1Loss-
CCDC150-
-
-
-
3Gain-
CCDC153-
-
-
-
1Loss-
CCDC166-
-
-
-
4Gain-
CCDC167-
-
-
-
1Loss-
CCDC168-
-
-
-
1Loss-
CCDC172-
-
-
-
1Loss-
CCDC174-
-
-
-
1Loss-
CCDC175-
-
-
-
1Loss-
CCDC179-
-
-
-
1Loss-
CCDC18-
-
-
-
1Loss-
CCDC180-
-
-
-
3Gain-
CCDC181-
-
-
-
3Gain-
CCDC184-
-
-
-
1Loss-
CCDC186-
-
-
-
1Loss-
CCDC190-
-
-
-
3Gain-
CCDC191-
-
-
-
4Gain-
CCDC198-
-
-
-
1Loss-
CCDC25-
-
-
-
1Loss-
CCDC28A-
-
-
-
1Loss-
CCDC34-
-
-
-
1Loss-
CCDC36-
-
-
-
1Loss-
CCDC38-
-
-
-
1Loss-
CCDC39-
-
-
-
7Amp-
CCDC42-
-
-
-
1Loss-
CCDC50-
-
-
-
7Amp-
CCDC51-
-
-
-
1Loss-
CCDC54-
-
-
-
4Gain-
CCDC57-
-
-
-
1Loss-
CCDC58-
-
-
-
5Amp-
CCDC59-
-
-
-
1Loss-
CCDC6-
-
-
-
1Loss-
CCDC63-
-
-
-
1Loss-
CCDC65-
-
-
-
1Loss-
CCDC66-
-
-
-
1Loss-
CCDC71-
-
-
-
1Loss-
CCDC73-
-
-
-
1Loss-
CCDC80-
-
-
-
4Gain-
CCDC81-
-
-
-
1Loss-
CCDC82-
-
-
-
1Loss-
CCDC83-
-
-
-
1Loss-
CCDC84-
-
-
-
1Loss-
CCDC86-
-
-
-
1Loss-
CCDC88B-
-
-
-
1Loss-
CCDC89-
-
-
-
1Loss-
CCDC90B-
-
-
-
1Loss-
CCER1-
-
-
-
1Loss-
CCHCR1-
-
-
-
1Loss-
CCK-
-
-
-
1Loss-
CCKBR-
-
-
-
1Loss-
CCL20-
-
-
-
3Gain-
CCNA2-
-
-
-
3Gain-
CCNB1IP1-
-
-
-
1Loss-
CCND1-
-
-
-
15Amp-
CCND3-
-
-
-
1Loss-
CCNE2-
-
-
-
4Gain-
CCNG1-
-
-
-
1Loss-
CCNJ-
-
-
-
1Loss-
CCNJL-
-
-
-
1Loss-
CCNL1-
-
-
-
5Amp-
CCNT1-
-
-
-
1Loss-
CCNYL1-
-
-
-
3Gain-
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR7-
-
-
-
3Gain-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCSER2-
-
-
-
1Loss-
CCT2-
-
-
-
1Loss-
CCT3-
-
-
-
3Gain-
CCT5-
-
-
-
3Gain-
CCZ1-
-
-
-
3Gain-
CCZ1B-
-
-
-
3Gain-
CD101-
-
-
-
1Loss-
CD151-
-
-
-
1Loss-
CD160-
-
-
-
3Gain-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD2-
-
-
-
1Loss-
CD200-
-
-
-
4Gain-
CD200R1-
-
-
-
4Gain-
CD200R1L-
-
-
-
4Gain-
CD244-
-
-
-
3Gain-
CD247-
-
-
-
3Gain-
CD274-
-
-
-
1Loss-
CD28-
-
-
-
3Gain-
CD2AP-
-
-
-
1Loss-
CD3D-
-
-
-
1Loss-
CD3E-
-
-
-
1Loss-
CD3G-
-
-
-
1Loss-
CD44-
-
-
-
1Loss-
CD47-
-
-
-
4Gain-
CD48-
-
-
-
3Gain-
CD5-
-
-
-
1Loss-
CD53-
-
-
-
1Loss-
CD58-
-
-
-
1Loss-
CD59-
-
-
-
1Loss-
CD5L-
-
-
-
3Gain-
CD6-
-
-
-
1Loss-
CD63-
-
-
-
1Loss-
CD68-
-
-
-
1Loss-
CD7-
-
-
-
1Loss-
CD80-
-
-
-
5Amp-
CD81-
-
-
-
1Loss-
CD82-
-
-
-
1Loss-
CD83-
-
-
-
1Loss-
CD84-
-
-
-
3Gain-
CD86-
-
-
-
5Amp-
CD96-
-
-
-
4Gain-
CDC14A-
-
-
-
1Loss-
CDC14B-
-
-
-
3Gain-
CDC25A-
-
-
-
1Loss-
CDC26-
-
-
-
3Gain-
CDC37L1-
-
-
-
1Loss-
CDC42BPG-
-
-
-
1Loss-
CDC42SE1-
-
-
-
4Gain-
CDC5L-
-
-
-
1Loss-
CDC7-
-
-
-
1Loss-
CDC73-
-
-
-
3Gain-
CDCA2-
-
-
-
1Loss-
CDCA7-
-
-
-
3Gain-
CDCP1-
-
-
-
1Loss-
CDH10-
-
-
-
3Gain-
CDH12-
-
-
-
5Amp-
CDH13-
-
-
-
3Gain-
CDH17-
-
-
-
4Gain-
CDH18-
-
-
-
3Gain-
CDH23-
-
-
-
1Loss-
CDH24-
-
-
-
5Amp-
CDHR1-
-
-
-
1Loss-
CDHR2-
-
-
-
1Loss-
CDHR4-
-
-
-
1Loss-
CDHR5-
-
-
-
1Loss-
CDK1-
-
-
-
1Loss-
CDK15-
-
-
-
3Gain-
CDK17-
-
-
-
1Loss-
CDK2-
-
-
-
1Loss-
CDK20-
-
-
-
3Gain-
CDK2AP2-
-
-
-
1Loss-
CDK4-
-
-
-
1Loss-
CDK5R2-
-
-
-
3Gain-
CDKAL1-
-
-
-
1Loss-
CDKL1-
-
-
-
3Gain-
CDKN1A-
-
-
-
1Loss-
CDKN1C-
-
-
-
1Loss-
CDKN3-
-
-
-
1Loss-
CDON-
-
-
-
1Loss-
CDRT1-
-
-
-
1Loss-
CDRT15-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDSN-
-
-
-
1Loss-
CDT1-
-
-
-
1Loss-
CDV3-
-
-
-
5Amp-
CDYL-
-
-
-
1Loss-
CEBPD-
-
-
-
3Gain-
CEBPE-
-
-
-
5Amp-
CELA1-
-
-
-
1Loss-
CELF1-
-
-
-
1Loss-
CELF3-
-
-
-
3Gain-
CELSR2-
-
-
-
1Loss-
CELSR3-
-
-
-
1Loss-
CEMIP2-
-
-
-
3Gain-
CEND1-
-
-
-
1Loss-
CENPL-
-
-
-
3Gain-
CENPP-
-
-
-
3Gain-
CENPQ-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CENPX-
-
-
-
1Loss-
CEP126-
-
-
-
12Amp-
CEP128-
-
-
-
1Loss-
CEP164-
-
-
-
1Loss-
CEP19-
-
-
-
7Amp-
CEP290-
-
-
-
1Loss-
CEP295-
-
-
-
1Loss-
CEP350-
-
-
-
3Gain-
CEP55-
-
-
-
1Loss-
CEP57-
-
-
-
1Loss-
CEP63-
-
-
-
5Amp-
CEP70-
-
-
-
5Amp-
CEP72-
-
-
-
3Gain-
CEP78-
-
-
-
3Gain-
CEP83-
-
-
-
1Loss-
CEP97-
-
-
-
4Gain-
CEPT1-
-
-
-
1Loss-
CERKL-
-
-
-
3Gain-
CERS2-
-
-
-
3Gain-
CERS5-
-
-
-
1Loss-
CETN1-
-
-
-
3Gain-
CFAP100-
-
-
-
5Amp-
CFAP126-
-
-
-
3Gain-
CFAP300-
-
-
-
12Amp-
CFAP43-
-
-
-
1Loss-
CFAP44-
-
-
-
4Gain-
CFAP45-
-
-
-
3Gain-
CFAP46-
-
-
-
1Loss-
CFAP52-
-
-
-
1Loss-
CFAP54-
-
-
-
1Loss-
CFAP58-
-
-
-
1Loss-
CFAP65-
-
-
-
3Gain-
CFAP70-
-
-
-
1Loss-
CFAP73-
-
-
-
1Loss-
CFB-
-
-
-
1Loss-
CFDP1-
-
-
-
1Loss-
CFL2-
-
-
-
1Loss-
CFLAR-
-
-
-
3Gain-
CGGBP1-
-
-
-
1Loss-
CGN-
-
-
-
3Gain-
CGRRF1-
-
-
-
1Loss-
CH25H-
-
-
-
1Loss-
CHAT-
-
-
-
1Loss-
CHCHD1-
-
-
-
1Loss-
CHCHD4-
-
-
-
1Loss-
CHCHD6-
-
-
-
5Amp-
CHCHD7-
-
-
-
3Gain-
CHD1L-
-
-
-
3Gain-
CHD3-
-
-
-
1Loss-
CHD7-
-
-
-
3Gain-
CHD8-
-
-
-
1Loss-
CHDH-
-
-
-
1Loss-
CHEK1-
-
-
-
1Loss-
CHI3L2-
-
-
-
1Loss-
CHIA-
-
-
-
1Loss-
CHID1-
-
-
-
1Loss-
CHKA-
-
-
-
1Loss-
CHL1-
-
-
-
1Loss-
CHMP2B-
-
-
-
1Loss-
CHMP4A-
-
-
-
1Loss-
CHMP4C-
-
-
-
3Gain-
CHMP7-
-
-
-
1Loss-
CHN1-
-
-
-
3Gain-
CHORDC1-
-
-
-
1Loss-
CHPF-
-
-
-
3Gain-
CHPT1-
-
-
-
1Loss-
CHRAC1-
-
-
-
4Gain-
CHRD-
-
-
-
7Amp-
CHRDL2-
-
-
-
1Loss-
CHRM1-
-
-
-
1Loss-
CHRM4-
-
-
-
1Loss-
CHRNA1-
-
-
-
3Gain-
CHRNA10-
-
-
-
1Loss-
CHRNA2-
-
-
-
1Loss-
CHRNA6-
-
-
-
3Gain-
CHRNB1-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHRNB3-
-
-
-
3Gain-
CHRND-
-
-
-
1Loss-
CHRNE-
-
-
-
1Loss-
CHRNG-
-
-
-
1Loss-
CHST1-
-
-
-
1Loss-
CHST11-
-
-
-
1Loss-
CHST12-
-
-
-
3Gain-
CHST13-
-
-
-
5Amp-
CHST15-
-
-
-
1Loss-
CHST2-
-
-
-
5Amp-
CHST3-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHTOP-
-
-
-
3Gain-
CHUK-
-
-
-
1Loss-
CHURC1-
-
-
-
1Loss-
CHURC1-FNTB-
-
-
-
1Loss-
CIART-
-
-
-
3Gain-
CIDEB-
-
-
-
1Loss-
CIDEC-
-
-
-
1Loss-
CIP2A-
-
-
-
4Gain-
CIPC-
-
-
-
1Loss-
CIR1-
-
-
-
3Gain-
CISD1-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CITED2-
-
-
-
1Loss-
CKAP4-
-
-
-
1Loss-
CKAP5-
-
-
-
1Loss-
CKS1B-
-
-
-
3Gain-
CKS2-
-
-
-
3Gain-
CLASP2-
-
-
-
1Loss-
CLCA1-
-
-
-
1Loss-
CLCA2-
-
-
-
1Loss-
CLCA4-
-
-
-
1Loss-
CLCC1-
-
-
-
1Loss-
CLCF1-
-
-
-
1Loss-
CLCN2-
-
-
-
7Amp-
CLCN3-
-
-
-
3Gain-
CLDN1-
-
-
-
7Amp-
CLDN10-
-
-
-
1Loss-
CLDN11-
-
-
-
5Amp-
CLDN16-
-
-
-
7Amp-
CLDN18-
-
-
-
5Amp-
CLDN25-
-
-
-
1Loss-
CLDN7-
-
-
-
1Loss-
CLDND1-
-
-
-
4Gain-
CLEC10A-
-
-
-
1Loss-
CLEC14A-
-
-
-
1Loss-
CLEC3A-
-
-
-
1Loss-
CLEC3B-
-
-
-
1Loss-
CLGN-
-
-
-
3Gain-
CLIC1-
-
-
-
1Loss-
CLIC5-
-
-
-
1Loss-
CLK1-
-
-
-
3Gain-
CLK2-
-
-
-
3Gain-
CLK4-
-
-
-
1Loss-
CLLU1OS-
-
-
-
1Loss-
CLMP-
-
-
-
1Loss-
CLNS1A-
-
-
-
1Loss-
CLPB-
-
-
-
1Loss-
CLPS-
-
-
-
1Loss-
CLPSL1-
-
-
-
1Loss-
CLPSL2-
-
-
-
1Loss-
CLPTM1L-
-
-
-
3Gain-
CLRN1-
-
-
-
5Amp-
CLRN3-
-
-
-
1Loss-
CLSTN2-
-
-
-
5Amp-
CLTB-
-
-
-
1Loss-
CLU-
-
-
-
1Loss-
CLUH-
-
-
-
1Loss-
CLUL1-
-
-
-
3Gain-
CLVS1-
-
-
-
3Gain-
CLYBL-
-
-
-
1Loss-
CMA1-
-
-
-
1Loss-
CMBL-
-
-
-
3Gain-
CMC1-
-
-
-
1Loss-
CMKLR1-
-
-
-
1Loss-
CMSS1-
-
-
-
4Gain-
CMTM5-
-
-
-
5Amp-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CMTR1-
-
-
-
1Loss-
CNBD1-
-
-
-
4Gain-
CNBP-
-
-
-
5Amp-
CNGA4-
-
-
-
1Loss-
CNGB3-
-
-
-
4Gain-
CNIH1-
-
-
-
1Loss-
CNN3-
-
-
-
1Loss-
CNNM1-
-
-
-
1Loss-
CNNM2-
-
-
-
1Loss-
CNOT10-
-
-
-
1Loss-
CNOT2-
-
-
-
1Loss-
CNOT6-
-
-
-
1Loss-
CNOT7-
-
-
-
1Loss-
CNOT9-
-
-
-
3Gain-
CNPPD1-
-
-
-
3Gain-
CNPY2-
-
-
-
1Loss-
CNPY3-
-
-
-
1Loss-
CNTN1-
-
-
-
1Loss-
CNTN3-
-
-
-
1Loss-
CNTN4-
-
-
-
1Loss-
CNTN5-
-
-
-
3Gain-
CNTN6-
-
-
-
1Loss-
CNTNAP4-
-
-
-
1Loss-
CNTROB-
-
-
-
1Loss-
COA4-
-
-
-
1Loss-
COCH-
-
-
-
1Loss-
COL11A1-
-
-
-
1Loss-
COL11A2-
-
-
-
1Loss-
COL13A1-
-
-
-
1Loss-
COL14A1-
-
-
-
4Gain-
COL15A1-
-
-
-
3Gain-
COL17A1-
-
-
-
1Loss-
COL21A1-
-
-
-
1Loss-
COL22A1-
-
-
-
4Gain-
COL23A1-
-
-
-
1Loss-
COL24A1-
-
-
-
1Loss-
COL27A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COL2A1-
-
-
-
1Loss-
COL3A1-
-
-
-
3Gain-
COL4A3-
-
-
-
3Gain-
COL4A4-
-
-
-
3Gain-
COL5A2-
-
-
-
3Gain-
COL6A3-
-
-
-
1Loss-
COL6A5-
-
-
-
5Amp-
COL6A6-
-
-
-
5Amp-
COL7A1-
-
-
-
1Loss-
COL8A1-
-
-
-
4Gain-
COLCA2-
-
-
-
1Loss-
COLEC10-
-
-
-
4Gain-
COLEC12-
-
-
-
3Gain-
COLGALT2-
-
-
-
3Gain-
COLQ-
-
-
-
1Loss-
COMMD2-
-
-
-
5Amp-
COMMD5-
-
-
-
4Gain-
COMMD9-
-
-
-
1Loss-
COMT-
-
-
-
3Gain-
COMTD1-
-
-
-
1Loss-
COP1-
-
-
-
3Gain-
COPA-
-
-
-
3Gain-
COPB1-
-
-
-
1Loss-
COPB2-
-
-
-
5Amp-
COPG1-
-
-
-
5Amp-
COPS3-
-
-
-
1Loss-
COPS5-
-
-
-
3Gain-
COPS7B-
-
-
-
1Loss-
COPS8-
-
-
-
1Loss-
COPS9-
-
-
-
1Loss-
COPZ1-
-
-
-
1Loss-
COQ10A-
-
-
-
1Loss-
COQ10B-
-
-
-
3Gain-
COQ6-
-
-
-
1Loss-
CORO1B-
-
-
-
1Loss-
CORO1C-
-
-
-
1Loss-
CORO2A-
-
-
-
3Gain-
COX10-
-
-
-
1Loss-
COX14-
-
-
-
1Loss-
COX15-
-
-
-
1Loss-
COX16-
-
-
-
1Loss-
COX17-
-
-
-
5Amp-
COX19-
-
-
-
1Loss-
COX6C-
-
-
-
4Gain-
COX8A-
-
-
-
1Loss-
CP-
-
-
-
5Amp-
CPA3-
-
-
-
5Amp-
CPA6-
-
-
-
3Gain-
CPB1-
-
-
-
5Amp-
CPE-
-
-
-
3Gain-
CPEB3-
-
-
-
1Loss-
CPEB4-
-
-
-
1Loss-
CPLX2-
-
-
-
1Loss-
CPM-
-
-
-
1Loss-
CPN1-
-
-
-
1Loss-
CPN2-
-
-
-
7Amp-
CPNE3-
-
-
-
4Gain-
CPNE4-
-
-
-
5Amp-
CPNE5-
-
-
-
1Loss-
CPNE6-
-
-
-
1Loss-
CPNE8-
-
-
-
1Loss-
CPNE9-
-
-
-
1Loss-
CPO-
-
-
-
3Gain-
CPOX-
-
-
-
4Gain-
CPQ-
-
-
-
4Gain-
CPS1-
-
-
-
3Gain-
CPSF1-
-
-
-
4Gain-
CPSF6-
-
-
-
1Loss-
CPSF7-
-
-
-
1Loss-
CPT1A-
-
-
-
7Amp-
CPXM2-
-
-
-
1Loss-
CRABP2-
-
-
-
3Gain-
CRACR2B-
-
-
-
1Loss-
CRADD-
-
-
-
1Loss-
CRBN-
-
-
-
1Loss-
CRCP-
-
-
-
1Loss-
CRCT1-
-
-
-
3Gain-
CREB1-
-
-
-
3Gain-
CREB3L1-
-
-
-
1Loss-
CREB3L4-
-
-
-
3Gain-
CREBRF-
-
-
-
1Loss-
CREBZF-
-
-
-
1Loss-
CREG1-
-
-
-
3Gain-
CRELD1-
-
-
-
1Loss-
CRH-
-
-
-
3Gain-
CRIP3-
-
-
-
1Loss-
CRISP1-
-
-
-
1Loss-
CRISP2-
-
-
-
1Loss-
CRISP3-
-
-
-
1Loss-
CRISPLD1-
-
-
-
3Gain-
CRK-
-
-
-
1Loss-
CRNN-
-
-
-
3Gain-
CROCC2-
-
-
-
1Loss-
CRP-
-
-
-
3Gain-
CRTAC1-
-
-
-
1Loss-
CRTAM-
-
-
-
1Loss-
CRTAP-
-
-
-
1Loss-
CRTC2-
-
-
-
3Gain-
CRY1-
-
-
-
1Loss-
CRY2-
-
-
-
1Loss-
CRYAA2-
-
-
-
1Loss-
CRYAB-
-
-
-
1Loss-
CRYBA2-
-
-
-
3Gain-
CRYBG3-
-
-
-
5Amp-
CRYGA-
-
-
-
3Gain-
CRYGB-
-
-
-
3Gain-
CRYGC-
-
-
-
3Gain-
CRYGD-
-
-
-
3Gain-
CRYGS-
-
-
-
7Amp-
CRYZ-
-
-
-
1Loss-
CS-
-
-
-
1Loss-
CSAD-
-
-
-
1Loss-
CSDE1-
-
-
-
1Loss-
CSF1-
-
-
-
1Loss-
CSF3-
-
-
-
3Gain-
CSGALNACT1-
-
-
-
1Loss-
CSGALNACT2-
-
-
-
1Loss-
CSKMT-
-
-
-
1Loss-
CSMD3p.S2380R
Missense
SNP
0.184
4Gain-
CSNK2A3-
-
-
-
1Loss-
CSNK2B-
-
-
-
1Loss-
CSPG5-
-
-
-
1Loss-
CSPP1-
-
-
-
3Gain-
CSRNP1-
-
-
-
1Loss-
CSRNP2-
-
-
-
1Loss-
CSRP2-
-
-
-
1Loss-
CSRP3-
-
-
-
1Loss-
CSTA-
-
-
-
5Amp-
CSTF2T-
-
-
-
1Loss-
CSTF3-
-
-
-
1Loss-
CTAGE8-
-
-
-
1Loss-
CTAGE9-
-
-
-
1Loss-
CTBP2-
-
-
-
1Loss-
CTBS-
-
-
-
1Loss-
CTDNEP1-
-
-
-
1Loss-
CTDSP1-
-
-
-
3Gain-
CTDSP2-
-
-
-
1Loss-
CTDSPL-
-
-
-
1Loss-
CTGF-
-
-
-
1Loss-
CTH-
-
-
-
1Loss-
CTHRC1-
-
-
-
4Gain-
CTLA4-
-
-
-
3Gain-
CTNNA3-
-
-
-
1Loss-
CTNNAL1-
-
-
-
3Gain-
CTNNB1-
-
-
-
1Loss-
CTNND2-
-
-
-
3Gain-
CTNS-
-
-
-
1Loss-
CTR9-
-
-
-
1Loss-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTSC-
-
-
-
1Loss-
CTSD-
-
-
-
1Loss-
CTSG-
-
-
-
1Loss-
CTSK-
-
-
-
3Gain-
CTSL-
-
-
-
3Gain-
CTSO-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTSV-
-
-
-
3Gain-
CTTN-
-
-
-
15Amp-
CTTNBP2NL-
-
-
-
1Loss-
CTU2-
-
-
-
1Loss-
CUEDC2-
-
-
-
1Loss-
CUL3-
-
-
-
3Gain-
CUL5-
-
-
-
1Loss-
CUL7-
-
-
-
1Loss-
CUL9-
-
-
-
1Loss-
CUTA-
-
-
-
1Loss-
CUTC-
-
-
-
1Loss-
CUX2-
-
-
-
1Loss-
CUZD1-
-
-
-
1Loss-
CWC15-
-
-
-
9Amp-
CWC22-
-
-
-
3Gain-
CWF19L1-
-
-
-
1Loss-
CWF19L2-
-
-
-
1Loss-
CX3CR1-
-
-
-
1Loss-
CXCL12-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCR1-
-
-
-
3Gain-
CXCR2-
-
-
-
3Gain-
CXCR5-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CXorf58p.R273Q
Missense
SNP
1.000
NDND-
CYB561A3-
-
-
-
1Loss-
CYB561D1-
-
-
-
1Loss-
CYB561D2-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R2-
-
-
-
1Loss-
CYBA-
-
-
-
1Loss-
CYBC1-
-
-
-
1Loss-
CYBRD1-
-
-
-
3Gain-
CYC1-
-
-
-
4Gain-
CYHR1-
-
-
-
4Gain-
CYLC2-
-
-
-
3Gain-
CYP11B1-
-
-
-
4Gain-
CYP11B2-
-
-
-
4Gain-
CYP17A1-
-
-
-
1Loss-
CYP20A1-
-
-
-
3Gain-
CYP21A2-
-
-
-
1Loss-
CYP26A1-
-
-
-
1Loss-
CYP26C1-
-
-
-
1Loss-
CYP27A1-
-
-
-
3Gain-
CYP27B1-
-
-
-
1Loss-
CYP2C18-
-
-
-
1Loss-
CYP2C19-
-
-
-
1Loss-
CYP2C8-
-
-
-
1Loss-
CYP2C9-
-
-
-
1Loss-
CYP2E1-
-
-
-
1Loss-
CYP2R1-
-
-
-
1Loss-
CYP2W1-
-
-
-
1Loss-
CYP39A1-
-
-
-
1Loss-
CYP7A1-
-
-
-
3Gain-
CYP7B1-
-
-
-
3Gain-
CYP8B1-
-
-
-
1Loss-
CYR61-
-
-
-
1Loss-
CYTH3-
-
-
-
3Gain-
D2HGDH-
-
-
-
1Loss-
DAAM1-
-
-
-
1Loss-
DAAM2-
-
-
-
1Loss-
DACT1-
-
-
-
1Loss-
DAD1-
-
-
-
3Gain-
DAG1-
-
-
-
1Loss-
DAGLA-
-
-
-
1Loss-
DAGLB-
-
-
-
3Gain-
DALRD3-
-
-
-
1Loss-
DAO-
-
-
-
1Loss-
DAOA-
-
-
-
1Loss-
DAP-
-
-
-
3Gain-
DAP3-
-
-
-
3Gain-
DAPK1-
-
-
-
3Gain-
DARS2-
-
-
-
3Gain-
DAW1-
-
-
-
1Loss-
DAXX-
-
-
-
1Loss-
DAZAP2-
-
-
-
1Loss-
DAZL-
-
-
-
1Loss-
DBN1-
-
-
-
1Loss-
DBR1-
-
-
-
5Amp-
DBT-
-
-
-
1Loss-
DBX1-
-
-
-
1Loss-
DBX2-
-
-
-
1Loss-
DCAF1-
-
-
-
1Loss-
DCAF11-
-
-
-
1Loss-
DCAF13-
-
-
-
4Gain-
DCAF17-
-
-
-
3Gain-
DCAF4-
-
-
-
1Loss-
DCAF4L2-
-
-
-
4Gain-
DCAF5-
-
-
-
1Loss-
DCAF6-
-
-
-
3Gain-
DCAF8-
-
-
-
3Gain-
DCBLD2-
-
-
-
4Gain-
DCD-
-
-
-
1Loss-
DCDC1-
-
-
-
1Loss-
DCDC2-
-
-
-
1Loss-
DCHS1-
-
-
-
1Loss-
DCHS2-
-
-
-
3Gain-
DCLK2-
-
-
-
3Gain-
DCLK3-
-
-
-
1Loss-
DCLRE1A-
-
-
-
1Loss-
DCLRE1B-
-
-
-
1Loss-
DCN-
-
-
-
1Loss-
DCP1A-
-
-
-
1Loss-
DCPS-
-
-
-
1Loss-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCSTAMP-
-
-
-
4Gain-
DCT-
-
-
-
1Loss-
DCTN2-
-
-
-
1Loss-
DCTN6-
-
-
-
1Loss-
DCUN1D1-
-
-
-
7Amp-
DCUN1D5-
-
-
-
12Amp-
DCXR-
-
-
-
1Loss-
DDAH1-
-
-
-
1Loss-
DDAH2-
-
-
-
1Loss-
DDB1-
-
-
-
1Loss-
DDB2-
-
-
-
1Loss-
DDHD1-
-
-
-
1Loss-
DDHD2-
-
-
-
3Gain-
DDI1-
-
-
-
1Loss-
DDIAS-
-
-
-
1Loss-
DDIT3-
-
-
-
1Loss-
DDIT4-
-
-
-
1Loss-
DDN-
-
-
-
1Loss-
DDR1-
-
-
-
1Loss-
DDR2-
-
-
-
3Gain-
DDX10-
-
-
-
1Loss-
DDX20-
-
-
-
1Loss-
DDX21-
-
-
-
1Loss-
DDX23-
-
-
-
1Loss-
DDX25-
-
-
-
1Loss-
DDX39B-
-
-
-
1Loss-
DDX41-
-
-
-
1Loss-
DDX50-
-
-
-
1Loss-
DDX54-
-
-
-
1Loss-
DDX6-
-
-
-
1Loss-
DDX60-
-
-
-
3Gain-
DDX60L-
-
-
-
3Gain-
DEAF1-
-
-
-
1Loss-
DEC1-
-
-
-
3Gain-
DECR1-
-
-
-
4Gain-
DEDD-
-
-
-
3Gain-
DEF6-
-
-
-
1Loss-
DEFB110-
-
-
-
1Loss-
DEFB112-
-
-
-
1Loss-
DEFB113-
-
-
-
1Loss-
DEFB114-
-
-
-
1Loss-
DEFB133-
-
-
-
1Loss-
DEK-
-
-
-
1Loss-
DENND2C-
-
-
-
1Loss-
DENND2D-
-
-
-
1Loss-
DENND3-
-
-
-
4Gain-
DENND4B-
-
-
-
3Gain-
DENND5A-
-
-
-
1Loss-
DENND6A-
-
-
-
1Loss-
DEPDC1-
-
-
-
1Loss-
DEPDC4-
-
-
-
1Loss-
DEPDC7-
-
-
-
1Loss-
DEPP1-
-
-
-
1Loss-
DEPTOR-
-
-
-
4Gain-
DERL1-
-
-
-
4Gain-
DERL2-
-
-
-
1Loss-
DES-
-
-
-
3Gain-
DEUP1-
-
-
-
1Loss-
DGAT1-
-
-
-
4Gain-
DGAT2-
-
-
-
1Loss-
DGKA-
-
-
-
1Loss-
DGKD-
-
-
-
1Loss-
DGKG-
-
-
-
7Amp-
DGKZ-
-
-
-
1Loss-
DHCR7-
-
-
-
1Loss-
DHFR2-
-
-
-
4Gain-
DHH-
-
-
-
1Loss-
DHRS1-
-
-
-
1Loss-
DHRS2-
-
-
-
5Amp-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHRS7-
-
-
-
1Loss-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHX16-
-
-
-
1Loss-
DHX30-
-
-
-
1Loss-
DHX32-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX36-
-
-
-
5Amp-
DHX9-
-
-
-
3Gain-
DIO2-
-
-
-
1Loss-
DIP2B-
-
-
-
1Loss-
DIRAS2-
-
-
-
3Gain-
DIRAS3-
-
-
-
1Loss-
DIRC1-
-
-
-
3Gain-
DIRC2-
-
-
-
5Amp-
DIS3L2-
-
-
-
1Loss-
DIXDC1-
-
-
-
1Loss-
DKK1-
-
-
-
1Loss-
DKK3-
-
-
-
1Loss-
DKK4-
-
-
-
3Gain-
DLAT-
-
-
-
1Loss-
DLEC1-
-
-
-
1Loss-
DLG1-
-
-
-
7Amp-
DLG2-
-
-
-
1Loss-
DLG4-
-
-
-
1Loss-
DLG5-
-
-
-
1Loss-
DLGAP5-
-
-
-
1Loss-
DLK2-
-
-
-
1Loss-
DLST-
-
-
-
1Loss-
DLX1-
-
-
-
3Gain-
DLX2-
-
-
-
3Gain-
DMAC1-
-
-
-
1Loss-
DMBT1-
-
-
-
1Loss-
DMGDH-
-
-
-
3Gain-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMTN-
-
-
-
1Loss-
DNA2-
-
-
-
1Loss-
DNAAF1-
-
-
-
3Gain-
DNAAF5-
-
-
-
1Loss-
DNAH1-
-
-
-
1Loss-
DNAH12-
-
-
-
1Loss-
DNAH2-
-
-
-
1Loss-
DNAH5-
-
-
-
3Gain-
DNAH7-
-
-
-
3Gain-
DNAH8-
-
-
-
1Loss-
DNAH9-
-
-
-
1Loss-
DNAJB11-
-
-
-
7Amp-
DNAJB12-
-
-
-
1Loss-
DNAJB13-
-
-
-
1Loss-
DNAJB2-
-
-
-
3Gain-
DNAJB4-
-
-
-
1Loss-
DNAJB6-
-
-
-
3Gain-
DNAJB8-
-
-
-
5Amp-
DNAJC10-
-
-
-
3Gain-
DNAJC12-
-
-
-
1Loss-
DNAJC13-
-
-
-
5Amp-
DNAJC14-
-
-
-
1Loss-
DNAJC19-
-
-
-
7Amp-
DNAJC22-
-
-
-
1Loss-
DNAJC24-
-
-
-
1Loss-
DNAJC25-
-
-
-
3Gain-
DNAJC25-GNG10-
-
-
-
3Gain-
DNAJC3-
-
-
-
1Loss-
DNAJC4-
-
-
-
1Loss-
DNAJC5B-
-
-
-
3Gain-
DNAJC9-
-
-
-
1Loss-
DNAL1-
-
-
-
1Loss-
DNASE1L2-
-
-
-
3Gain-
DNASE1L3-
-
-
-
1Loss-
DNASE2B-
-
-
-
1Loss-
DNER-
-
-
-
1Loss-
DNHD1-
-
-
-
1Loss-
DNM3-
-
-
-
3Gain-
DNMBP-
-
-
-
1Loss-
DNPEP-
-
-
-
3Gain-
DNPH1-
-
-
-
1Loss-
DNTT-
-
-
-
1Loss-
DNTTIP2-
-
-
-
1Loss-
DOC2B-
-
-
-
1Loss-
DOCK1-
-
-
-
1Loss-
DOCK10-
-
-
-
3Gain-
DOCK2-
-
-
-
1Loss-
DOCK3-
-
-
-
1Loss-
DOCK5-
-
-
-
1Loss-
DOCK8-
-
-
-
1Loss-
DOCK9-
-
-
-
1Loss-
DOK2-
-
-
-
1Loss-
DOK3-
-
-
-
1Loss-
DPAGT1-
-
-
-
1Loss-
DPCD-
-
-
-
1Loss-
DPF3-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPH3-
-
-
-
1Loss-
DPH5-
-
-
-
1Loss-
DPM3-
-
-
-
3Gain-
DPPA2-
-
-
-
4Gain-
DPPA4-
-
-
-
4Gain-
DPT-
-
-
-
3Gain-
DPY19L2-
-
-
-
1Loss-
DPY19L4-
-
-
-
4Gain-
DPYD-
-
-
-
1Loss-
DPYS-
-
-
-
4Gain-
DPYSL2-
-
-
-
1Loss-
DPYSL4-
-
-
-
1Loss-
DR1-
-
-
-
1Loss-
DRAM1-
-
-
-
1Loss-
DRAM2-
-
-
-
1Loss-
DRC3-
-
-
-
1Loss-
DRD1-
-
-
-
1Loss-
DRD2-
-
-
-
1Loss-
DRD3-
-
-
-
4Gain-
DRD4-
-
-
-
1Loss-
DRG2-
-
-
-
1Loss-
DRGX-
-
-
-
1Loss-
DSCAML1-
-
-
-
1Loss-
DSCC1-
-
-
-
4Gain-
DSP-
-
-
-
1Loss-
DST-
-
-
-
1Loss-
DTD2-
-
-
-
1Loss-
DTNBP1-
-
-
-
1Loss-
DTX1-
-
-
-
1Loss-
DTX3-
-
-
-
1Loss-
DTX3L-
-
-
-
5Amp-
DTYMK-
-
-
-
1Loss-
DUPD1-
-
-
-
1Loss-
DUS1L-
-
-
-
1Loss-
DUSP1-
-
-
-
1Loss-
DUSP12-
-
-
-
3Gain-
DUSP13-
-
-
-
1Loss-
DUSP19-
-
-
-
3Gain-
DUSP22-
-
-
-
1Loss-
DUSP23-
-
-
-
3Gain-
DUSP26-
-
-
-
3Gain-
DUSP27-
-
-
-
3Gain-
DUSP28-
-
-
-
1Loss-
DUSP4-
-
-
-
1Loss-
DUSP5-
-
-
-
1Loss-
DUSP6-
-
-
-
1Loss-
DUSP7-
-
-
-
1Loss-
DUSP8-
-
-
-
1Loss-
DUXB-
-
-
-
1Loss-
DVL2-
-
-
-
1Loss-
DVL3-
-
-
-
7Amp-
DXO-
-
-
-
1Loss-
DYDC1-
-
-
-
1Loss-
DYDC2-
-
-
-
1Loss-
DYNC1I2-
-
-
-
3Gain-
DYNC1LI1-
-
-
-
1Loss-
DYNC2H1-
-
-
-
12Amp-
DYRK2-
-
-
-
1Loss-
DYTN-
-
-
-
3Gain-
DZIP1-
-
-
-
1Loss-
DZIP1L-
-
-
-
5Amp-
DZIP3-
-
-
-
4Gain-
E2F3-
-
-
-
1Loss-
E2F5-
-
-
-
3Gain-
E2F7-
-
-
-
1Loss-
E2F8-
-
-
-
1Loss-
E4F1-
-
-
-
3Gain-
EAF1-
-
-
-
1Loss-
EAF2-
-
-
-
5Amp-
EAPP-
-
-
-
1Loss-
EBAG9-
-
-
-
4Gain-
EBF2-
-
-
-
1Loss-
EBF3-
-
-
-
1Loss-
EBLN2-
-
-
-
1Loss-
ECD-
-
-
-
1Loss-
ECE2-
-
-
-
7Amp-
ECEL1-
-
-
-
1Loss-
ECH1-
-
-
-
3Gain-
ECHS1-
-
-
-
1Loss-
ECI1-
-
-
-
3Gain-
ECI2-
-
-
-
1Loss-
ECM1-
-
-
-
3Gain-
ECM2-
-
-
-
3Gain-
ECPAS-
-
-
-
3Gain-
ECT2-
-
-
-
5Amp-
ECT2L-
-
-
-
1Loss-
EDDM3A-
-
-
-
1Loss-
EDDM3B-
-
-
-
1Loss-
EDEM1-
-
-
-
1Loss-
EDEM3-
-
-
-
3Gain-
EDN1-
-
-
-
1Loss-
EDNRA-
-
-
-
3Gain-
EDRF1-
-
-
-
1Loss-
EEA1-
-
-
-
1Loss-
EED-
-
-
-
1Loss-
EEF1AKMT2-
-
-
-
1Loss-
EEF1AKMT3-
-
-
-
1Loss-
EEF1AKMT4-
-
-
-
7Amp-
EEF1AKMT4-ECE2-
-
-
-
7Amp-
EEF1B2-
-
-
-
3Gain-
EEF1D-
-
-
-
4Gain-
EEF1E1-
-
-
-
1Loss-
EEF1E1-BLOC1S5-
-
-
-
1Loss-
EEF1G-
-
-
-
1Loss-
EEFSEC-
-
-
-
5Amp-
EFCAB1-
-
-
-
3Gain-
EFCAB12-
-
-
-
5Amp-
EFCAB9-
-
-
-
1Loss-
EFCC1-
-
-
-
5Amp-
EFHB-
-
-
-
1Loss-
EFHC1-
-
-
-
1Loss-
EFHD1-
-
-
-
1Loss-
EFNA1-
-
-
-
3Gain-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFNB2-
-
-
-
1Loss-
EFNB3-
-
-
-
1Loss-
EFR3A-
-
-
-
4Gain-
EFS-
-
-
-
5Amp-
EGFL8-
-
-
-
1Loss-
EGLN3-
-
-
-
1Loss-
EGR2-
-
-
-
1Loss-
EGR3-
-
-
-
1Loss-
EHBP1L1-
-
-
-
3Gain-
EHD1-
-
-
-
1Loss-
EHF-
-
-
-
1Loss-
EHHADH-
-
-
-
7Amp-
EHMT2-
-
-
-
1Loss-
EI24-
-
-
-
1Loss-
EID3-
-
-
-
1Loss-
EIF1-
-
-
-
3Gain-
EIF1B-
-
-
-
1Loss-
EIF2A-
-
-
-
5Amp-
EIF2AK1-
-
-
-
3Gain-
EIF2B2-
-
-
-
1Loss-
EIF2B5-
-
-
-
7Amp-
EIF2S1-
-
-
-
1Loss-
EIF3A-
-
-
-
1Loss-
EIF3B-
-
-
-
3Gain-
EIF3E-
-
-
-
4Gain-
EIF3F-
-
-
-
1Loss-
EIF3H-
-
-
-
4Gain-
EIF3M-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4A2-
-
-
-
7Amp-
EIF4B-
-
-
-
1Loss-
EIF4E1B-
-
-
-
1Loss-
EIF4E2-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
3Gain-
EIF4EBP2-
-
-
-
1Loss-
EIF4G1-
-
-
-
7Amp-
EIF4G2-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
EIF5A2-
-
-
-
5Amp-
EIF5AL1-
-
-
-
1Loss-
ELAC2-
-
-
-
1Loss-
ELF2-
-
-
-
3Gain-
ELF5-
-
-
-
1Loss-
ELFN1-
-
-
-
1Loss-
ELK3-
-
-
-
1Loss-
ELMOD1-
-
-
-
1Loss-
ELMOD2-
-
-
-
3Gain-
ELMSAN1-
-
-
-
1Loss-
ELOC-
-
-
-
3Gain-
ELOVL2-
-
-
-
1Loss-
ELOVL3-
-
-
-
1Loss-
ELOVL5-
-
-
-
1Loss-
ELP1-
-
-
-
3Gain-
ELP3-
-
-
-
1Loss-
ELP4-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
ELP6-
-
-
-
1Loss-
EMC2-
-
-
-
4Gain-
EMC3-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
EMC9-
-
-
-
1Loss-
EML3-
-
-
-
1Loss-
EMSY-
-
-
-
1Loss-
EMX2-
-
-
-
1Loss-
ENDOD1-
-
-
-
9Amp-
ENDOU-
-
-
-
1Loss-
ENO3-
-
-
-
1Loss-
ENO4-
-
-
-
1Loss-
ENOSF1-
-
-
-
3Gain-
ENPP1-
-
-
-
1Loss-
ENPP2-
-
-
-
4Gain-
ENPP3p.N619D
Missense
SNP
1.000
1Loss-
ENPP4-
-
-
-
1Loss-
ENPP5-
-
-
-
1Loss-
ENSA-
-
-
-
3Gain-
ENTPD1-
-
-
-
1Loss-
ENTPD3-
-
-
-
1Loss-
ENTPD4-
-
-
-
1Loss-
ENTPD5-
-
-
-
1Loss-
ENTPD7-
-
-
-
1Loss-
ENY2-
-
-
-
4Gain-
EOGT-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EPB41L2-
-
-
-
1Loss-
EPB41L4A-
-
-
-
2-EPB41L4A--ARL15
EPB41L4B-
-
-
-
3Gain-
EPHA3-
-
-
-
1Loss-
EPHA4-
-
-
-
3Gain-
EPHA6-
-
-
-
4Gain-
EPHB1-
-
-
-
5Amp-
EPHB3-
-
-
-
7Amp-
EPHX2-
-
-
-
1Loss-
EPHX4-
-
-
-
1Loss-
EPM2A-
-
-
-
1Loss-
EPM2AIP1-
-
-
-
1Loss-
EPN2-
-
-
-
1Loss-
EPPK1-
-
-
-
4Gain-
EPS8L2-
-
-
-
1Loss-
EPS8L3-
-
-
-
1Loss-
EPYC-
-
-
-
1Loss-
ERBB2-
-
-
-
14Amp-
ERBB3-
-
-
-
1Loss-
ERBB4-
-
-
-
3Gain-
ERC2-
-
-
-
1Loss-
ERCC5-
-
-
-
1Loss-
ERCC6-
-
-
-
1Loss-
ERCC6L2-
-
-
-
3Gain-
ERFE-
-
-
-
1Loss-
ERG28-
-
-
-
1Loss-
ERGIC1-
-
-
-
1Loss-
ERH-
-
-
-
1Loss-
ERICH1-
-
-
-
1Loss-
ERICH3-
-
-
-
1Loss-
ERICH5-
-
-
-
4Gain-
ERICH6-
-
-
-
5Amp-
ERLIN1-
-
-
-
1Loss-
ERLIN2-
-
-
-
3Gain-
ERMP1-
-
-
-
1Loss-
ERO1A-
-
-
-
1Loss-
ERP29-
-
-
-
1Loss-
ERP44-
-
-
-
3Gain-
ERVFRD-1-
-
-
-
1Loss-
ESAM-
-
-
-
1Loss-
ESCO2-
-
-
-
1Loss-
ESPL1-
-
-
-
1Loss-
ESPNL-
-
-
-
1Loss-
ESR2-
-
-
-
1Loss-
ESRP1-
-
-
-
4Gain-
ESRRA-
-
-
-
1Loss-
ESRRB-
-
-
-
1Loss-
ESYT1-
-
-
-
1Loss-
ESYT3-
-
-
-
5Amp-
ETFDH-
-
-
-
3Gain-
ETS1-
-
-
-
1Loss-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
ETV5-
-
-
-
7Amp-
ETV7-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EVI5-
-
-
-
1Loss-
EVPLL-
-
-
-
1Loss-
EVX2-
-
-
-
3Gain-
EXD2-
-
-
-
1Loss-
EXOC2-
-
-
-
1Loss-
EXOC3-
-
-
-
3Gain-
EXOC5-
-
-
-
1Loss-
EXOC6-
-
-
-
1Loss-
EXOG-
-
-
-
1Loss-
EXOSC1-
-
-
-
1Loss-
EXOSC4-
-
-
-
4Gain-
EXOSC7-
-
-
-
1Loss-
EXOSC9-
-
-
-
3Gain-
EXPH5-
-
-
-
1Loss-
EXT1-
-
-
-
4Gain-
EXT2-
-
-
-
1Loss-
EXTL2-
-
-
-
1Loss-
EXTL3-
-
-
-
1Loss-
EYA1-
-
-
-
3Gain-
EYA4-
-
-
-
1Loss-
F11R-
-
-
-
3Gain-
F12-
-
-
-
1Loss-
F13A1-
-
-
-
1Loss-
F2-
-
-
-
1Loss-
F3-
-
-
-
1Loss-
F5-
-
-
-
3Gain-
FABP12-
-
-
-
3Gain-
FABP2-
-
-
-
3Gain-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP6-
-
-
-
1Loss-
FABP9-
-
-
-
3Gain-
FADD-
-
-
-
15Amp-
FADS1-
-
-
-
1Loss-
FADS2-
-
-
-
1Loss-
FADS3-
-
-
-
1Loss-
FAF2-
-
-
-
1Loss-
FAIM-
-
-
-
5Amp-
FAIM2-
-
-
-
1Loss-
FAM102B-
-
-
-
1Loss-
FAM107A-
-
-
-
1Loss-
FAM110B-
-
-
-
3Gain-
FAM117B-
-
-
-
3Gain-
FAM118B-
-
-
-
1Loss-
FAM120A-
-
-
-
3Gain-
FAM120AOS-
-
-
-
3Gain-
FAM122A-
-
-
-
3Gain-
FAM124B-
-
-
-
3Gain-
FAM126B-
-
-
-
3Gain-
FAM129A-
-
-
-
3Gain-
FAM131A-
-
-
-
7Amp-
FAM135B-
-
-
-
4Gain-
FAM13C-
-
-
-
1Loss-
FAM149B1-
-
-
-
1Loss-
FAM153A-
-
-
-
1Loss-
FAM153B-
-
-
-
1Loss-
FAM153C-
-
-
-
1Loss-
FAM155A-
-
-
-
1Loss-
FAM160A1-
-
-
-
3Gain-
FAM160A2-
-
-
-
1Loss-
FAM160B1-
-
-
-
1Loss-
FAM160B2-
-
-
-
1Loss-
FAM161B-
-
-
-
1Loss-
FAM162A-
-
-
-
5Amp-
FAM163A-
-
-
-
3Gain-
FAM168A-
-
-
-
1Loss-
FAM170A-
-
-
-
1Loss-
FAM170B-
-
-
-
1Loss-
FAM171B-
-
-
-
3Gain-
FAM173B-
-
-
-
3Gain-
FAM177A1-
-
-
-
1Loss-
FAM180B-
-
-
-
1Loss-
FAM181B-
-
-
-
1Loss-
FAM186A-
-
-
-
1Loss-
FAM186B-
-
-
-
1Loss-
FAM189A2-
-
-
-
3Gain-
FAM189B-
-
-
-
3Gain-
FAM193B-
-
-
-
1Loss-
FAM198A-
-
-
-
1Loss-
FAM198B-
-
-
-
3Gain-
FAM19A1-
-
-
-
1Loss-
FAM19A2-
-
-
-
1Loss-
FAM19A3-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM204A-
-
-
-
1Loss-
FAM206A-
-
-
-
3Gain-
FAM208A-
-
-
-
1Loss-
FAM208B-
-
-
-
3Gain-
FAM20B-
-
-
-
3Gain-
FAM20C-
-
-
-
1Loss-
FAM216A-
-
-
-
1Loss-
FAM217A-
-
-
-
1Loss-
FAM218A-
-
-
-
3Gain-
FAM220A-
-
-
-
3Gain-
FAM222A-
-
-
-
1Loss-
FAM237A-
-
-
-
3Gain-
FAM240A-
-
-
-
1Loss-
FAM241B-
-
-
-
1Loss-
FAM243B-
-
-
-
1Loss-
FAM24A-
-
-
-
1Loss-
FAM24B-
-
-
-
1Loss-
FAM3D-
-
-
-
1Loss-
FAM43A-
-
-
-
7Amp-
FAM45A-
-
-
-
1Loss-
FAM49B-
-
-
-
4Gain-
FAM50B-
-
-
-
1Loss-
FAM53B-
-
-
-
1Loss-
FAM57A-
-
-
-
1Loss-
FAM69A-
-
-
-
1Loss-
FAM71C-
-
-
-
1Loss-
FAM71D-
-
-
-
1Loss-
FAM76B-
-
-
-
1Loss-
FAM78B-
-
-
-
3Gain-
FAM83A-
-
-
-
4Gain-
FAM83B-
-
-
-
1Loss-
FAM83G-
-
-
-
1Loss-
FAM83H-
-
-
-
4Gain-
FAM84B-
-
-
-
4Gain-
FAM86C1-
-
-
-
1Loss-
FAM89B-
-
-
-
3Gain-
FAM8A1-
-
-
-
1Loss-
FAM91A1-
-
-
-
4Gain-
FAM92A-
-
-
-
4Gain-
FANCC-
-
-
-
3Gain-
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FANCE-
-
-
-
1Loss-
FANCF-
-
-
-
1Loss-
FANCM-
-
-
-
1Loss-
FANK1-
-
-
-
1Loss-
FAR1-
-
-
-
1Loss-
FARP1-
-
-
-
1Loss-
FARP2-
-
-
-
1Loss-
FARS2-
-
-
-
1Loss-
FARSB-
-
-
-
3Gain-
FAS-
-
-
-
1Loss-
FASLG-
-
-
-
3Gain-
FASN-
-
-
-
1Loss-
FASTKD2-
-
-
-
3Gain-
FASTKD3-
-
-
-
3Gain-
FAT1p.Q600*
Nonsense
SNP
0.390
2--
FAT3-
-
-
-
1Loss-
FAT4-
-
-
-
3Gain-
FBLL1-
-
-
-
1Loss-
FBLN2-
-
-
-
1Loss-
FBP1-
-
-
-
3Gain-
FBP2-
-
-
-
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-
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1Loss-
FP565260.4-
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1Loss-
FP565260.6-
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1Loss-
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1Loss-
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-
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-
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-
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-
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-
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-
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GEMIN2-
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GFRA2-
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1Loss-
GGH-
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3Gain-
GGT6-
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-
1Loss-
GHITM-
-
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1Loss-
GHRL-
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1Loss-
GHSR-
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GIF-
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GIGYF2-
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GIPC2-
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GIT2-
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GJA8-
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GJE1-
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-
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GLP2R-
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GLRB-
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GLRX3-
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GLS-
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GLS2-
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-
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GLT8D2-
-
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-
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GLUL-
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-
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GLYCTK-
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GMCL2-
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GMDS-
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-
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GMFB-
-
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-
1Loss-
GML-
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7Amp-
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GMPPA-
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3Gain-
GMPPB-
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-
1Loss-
GMPR-
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1Loss-
GMPR2-
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1Loss-
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-
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GNA14-
-
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3Gain-
GNAI2-
-
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GNAI3-
-
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1Loss-
GNAQ-
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GNAT1-
-
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GNAT2-
-
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-
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5Amp-
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GNG12-
-
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-
1Loss-
GNG2-
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-
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GNG3-
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-
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GNG5-
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-
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-
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GNL3-
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-
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-
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-
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GNPTAB-
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-
1Loss-
GNRH1-
-
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-
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GNS-
-
-
-
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GOLGA4-
-
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-
1Loss-
GOLGA7-
-
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-
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GOLGA7B-
-
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GOLGB1-
-
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-
5Amp-
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-
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-
5Amp-
GOLM1-
-
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3Gain-
GOLPH3L-
-
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-
3Gain-
GON4L-
-
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-
3Gain-
GORAB-
-
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-
3Gain-
GORASP1-
-
-
-
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GOT1-
-
-
-
1Loss-
GOT1L1-
-
-
-
3Gain-
GP1BA-
-
-
-
1Loss-
GP5-
-
-
-
7Amp-
GP9-
-
-
-
5Amp-
GPA33-
-
-
-
3Gain-
GPAA1-
-
-
-
4Gain-
GPAM-
-
-
-
1Loss-
GPANK1-
-
-
-
1Loss-
GPAT4-
-
-
-
3Gain-
GPATCH2L-
-
-
-
1Loss-
GPATCH4-
-
-
-
3Gain-
GPBAR1-
-
-
-
3Gain-
GPC1-
-
-
-
1Loss-
GPC5-
-
-
-
1Loss-
GPC6-
-
-
-
1Loss-
GPD1-
-
-
-
1Loss-
GPD1L-
-
-
-
1Loss-
GPER1-
-
-
-
1Loss-
GPHB5-
-
-
-
1Loss-
GPHN-
-
-
-
1Loss-
GPIHBP1-
-
-
-
4Gain-
GPLD1-
-
-
-
1Loss-
GPN3-
-
-
-
1Loss-
GPR1-
-
-
-
3Gain-
GPR135-
-
-
-
1Loss-
GPR137-
-
-
-
1Loss-
GPR137C-
-
-
-
1Loss-
GPR146-
-
-
-
1Loss-
GPR149-
-
-
-
5Amp-
GPR15-
-
-
-
4Gain-
GPR152-
-
-
-
1Loss-
GPR155-
-
-
-
3Gain-
GPR156-
-
-
-
5Amp-
GPR160-
-
-
-
5Amp-
GPR161-
-
-
-
3Gain-
GPR171-
-
-
-
5Amp-
GPR18-
-
-
-
1Loss-
GPR180-
-
-
-
1Loss-
GPR182-
-
-
-
1Loss-
GPR183-
-
-
-
1Loss-
GPR20-
-
-
-
4Gain-
GPR26-
-
-
-
1Loss-
GPR27-
-
-
-
1Loss-
GPR33-
-
-
-
1Loss-
GPR35-
-
-
-
1Loss-
GPR52-
-
-
-
3Gain-
GPR55-
-
-
-
1Loss-
GPR61-
-
-
-
1Loss-
GPR62-
-
-
-
1Loss-
GPR83-
-
-
-
9Amp-
GPR84-
-
-
-
1Loss-
GPR87-
-
-
-
5Amp-
GPR88-
-
-
-
1Loss-
GPR89A-
-
-
-
3Gain-
GPR89B-
-
-
-
3Gain-
GPRIN1-
-
-
-
1Loss-
GPRIN2-
-
-
-
1Loss-
GPS1-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPSM2-
-
-
-
1Loss-
GPSM3-
-
-
-
1Loss-
GPT-
-
-
-
4Gain-
GPX1-
-
-
-
1Loss-
GPX2-
-
-
-
1Loss-
GPX5-
-
-
-
1Loss-
GPX6-
-
-
-
1Loss-
GRAMD1B-
-
-
-
1Loss-
GRAMD1C-
-
-
-
4Gain-
GRAP-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GRASP-
-
-
-
1Loss-
GRB7-
-
-
-
14Amp-
GRHL2-
-
-
-
4Gain-
GRIA2-
-
-
-
3Gain-
GRIA4-
-
-
-
1Loss-
GRID1-
-
-
-
1Loss-
GRID2IP-
-
-
-
3Gain-
GRIFIN-
-
-
-
3Gain-
GRIK4-
-
-
-
1Loss-
GRIN3A-
-
-
-
3Gain-
GRINA-
-
-
-
4Gain-
GRIP1-
-
-
-
1Loss-
GRIP2-
-
-
-
1Loss-
GRK5-
-
-
-
1Loss-
GRK6-
-
-
-
1Loss-
GRK7-
-
-
-
5Amp-
GRM1-
-
-
-
1Loss-
GRM2-
-
-
-
1Loss-
GRM4-
-
-
-
1Loss-
GRM5-
-
-
-
1Loss-
GRM6-
-
-
-
1Loss-
GRM7-
-
-
-
1Loss-
GSDMA-
-
-
-
2-CASC3--GSDMA
GSDMC-
-
-
-
4Gain-
GSDMD-
-
-
-
4Gain-
GSG1L2-
-
-
-
1Loss-
GSK3B-
-
-
-
5Amp-
GSR-
-
-
-
1Loss-
GSTA1-
-
-
-
1Loss-
GSTA2-
-
-
-
1Loss-
GSTA3-
-
-
-
1Loss-
GSTA4-
-
-
-
1Loss-
GSTA5-
-
-
-
1Loss-
GSTM1-
-
-
-
1Loss-
GSTM2-
-
-
-
1Loss-
GSTM3-
-
-
-
1Loss-
GSTM4-
-
-
-
1Loss-
GSTM5-
-
-
-
1Loss-
GSTO1-
-
-
-
1Loss-
GSTO2-
-
-
-
1Loss-
GSTP1-
-
-
-
1Loss-
GSTZ1-
-
-
-
1Loss-
GTF2A1-
-
-
-
1Loss-
GTF2B-
-
-
-
1Loss-
GTF2E1-
-
-
-
5Amp-
GTF2E2-
-
-
-
1Loss-
GTF2H1-
-
-
-
1Loss-
GTF2H4-
-
-
-
1Loss-
GTF3C3-
-
-
-
3Gain-
GTPBP2-
-
-
-
1Loss-
GTPBP8-
-
-
-
4Gain-
GTSF1-
-
-
-
1Loss-
GUCA1A-
-
-
-
1Loss-
GUCA1B-
-
-
-
1Loss-
GUCA1C-
-
-
-
4Gain-
GUCY1A1-
-
-
-
3Gain-
GUCY1A2-
-
-
-
1Loss-
GUCY1B1-
-
-
-
3Gain-
GUCY2D-
-
-
-
1Loss-
GULP1-
-
-
-
3Gain-
GVQW2-
-
-
-
1Loss-
GVQW3-
-
-
-
1Loss-
GXYLT1-
-
-
-
1Loss-
GXYLT2-
-
-
-
1Loss-
GYG1-
-
-
-
5Amp-
GYPA-
-
-
-
3Gain-
GYPB-
-
-
-
3Gain-
GYPE-
-
-
-
3Gain-
GZMB-
-
-
-
1Loss-
GZMH-
-
-
-
1Loss-
H1FNT-
-
-
-
1Loss-
H1FOO-
-
-
-
5Amp-
H1FX-
-
-
-
5Amp-
H2AFX-
-
-
-
1Loss-
H2AFY2-
-
-
-
1Loss-
HABP2-
-
-
-
1Loss-
HABP4-
-
-
-
3Gain-
HACD2-
-
-
-
5Amp-
HACL1-
-
-
-
1Loss-
HAL-
-
-
-
1Loss-
HAO2-
-
-
-
1Loss-
HAP1-
-
-
-
3Gain-
HAPLN2-
-
-
-
3Gain-
HARBI1-
-
-
-
1Loss-
HAS2-
-
-
-
4Gain-
HASPIN-
-
-
-
1Loss-
HAT1-
-
-
-
3Gain-
HAUS4-
-
-
-
5Amp-
HAX1-
-
-
-
3Gain-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HBS1L-
-
-
-
1Loss-
HCFC2-
-
-
-
1Loss-
HCLS1-
-
-
-
5Amp-
HCN3-
-
-
-
3Gain-
HCRTR2-
-
-
-
1Loss-
HDAC11-
-
-
-
1Loss-
HDAC4-
-
-
-
1Loss-
HDAC7-
-
-
-
1Loss-
HDGF-
-
-
-
3Gain-
HDGFL1-
-
-
-
1Loss-
HDHD3-
-
-
-
3Gain-
HDLBP-
-
-
-
1Loss-
HEATR4-
-
-
-
1Loss-
HEATR5A-
-
-
-
1Loss-
HEBP2-
-
-
-
1Loss-
HECA-
-
-
-
1Loss-
HECTD1-
-
-
-
1Loss-
HECTD2-
-
-
-
1Loss-
HECTD4-
-
-
-
1Loss-
HECW2-
-
-
-
3Gain-
HEG1-
-
-
-
5Amp-
HELB-
-
-
-
1Loss-
HELLS-
-
-
-
1Loss-
HEMGN-
-
-
-
3Gain-
HEMK1-
-
-
-
1Loss-
HENMT1-
-
-
-
1Loss-
HEPACAM-
-
-
-
1Loss-
HEPHL1-
-
-
-
9Amp-
HEPN1-
-
-
-
1Loss-
HERC4-
-
-
-
1Loss-
HES1-
-
-
-
7Amp-
HES6-
-
-
-
1Loss-
HES7-
-
-
-
1Loss-
HESX1-
-
-
-
1Loss-
HEXDC-
-
-
-
1Loss-
HEY1-
-
-
-
3Gain-
HFE-
-
-
-
1Loss-
HFM1-
-
-
-
1Loss-
HGD-
-
-
-
5Amp-
HGH1-
-
-
-
4Gain-
HGSNAT-
-
-
-
3Gain-
HHATL-
-
-
-
1Loss-
HHEX-
-
-
-
1Loss-
HHIP-
-
-
-
3Gain-
HHLA1-
-
-
-
4Gain-
HHLA2-
-
-
-
4Gain-
HHLA3-
-
-
-
1Loss-
HIBCH-
-
-
-
3Gain-
HIC1-
-
-
-
1Loss-
HIF1A-
-
-
-
1Loss-
HIF1AN-
-
-
-
1Loss-
HIGD1A-
-
-
-
1Loss-
HIGD1C-
-
-
-
1Loss-
HIGD2A-
-
-
-
1Loss-
HIKESHI-
-
-
-
1Loss-
HINFP-
-
-
-
1Loss-
HIPK1-
-
-
-
1Loss-
HIPK3-
-
-
-
1Loss-
HIST1H1A-
-
-
-
1Loss-
HIST1H1B-
-
-
-
1Loss-
HIST1H1C-
-
-
-
1Loss-
HIST1H1D-
-
-
-
1Loss-
HIST1H1E-
-
-
-
1Loss-
HIST1H1T-
-
-
-
1Loss-
HIST1H2AA-
-
-
-
1Loss-
HIST1H2AB-
-
-
-
1Loss-
HIST1H2AC-
-
-
-
1Loss-
HIST1H2AD-
-
-
-
1Loss-
HIST1H2AE-
-
-
-
1Loss-
HIST1H2AG-
-
-
-
1Loss-
HIST1H2AH-
-
-
-
1Loss-
HIST1H2AI-
-
-
-
1Loss-
HIST1H2AJ-
-
-
-
1Loss-
HIST1H2AK-
-
-
-
1Loss-
HIST1H2AL-
-
-
-
1Loss-
HIST1H2AM-
-
-
-
1Loss-
HIST1H2BA-
-
-
-
1Loss-
HIST1H2BB-
-
-
-
1Loss-
HIST1H2BC-
-
-
-
1Loss-
HIST1H2BD-
-
-
-
1Loss-
HIST1H2BE-
-
-
-
1Loss-
HIST1H2BF-
-
-
-
1Loss-
HIST1H2BG-
-
-
-
1Loss-
HIST1H2BH-
-
-
-
1Loss-
HIST1H2BI-
-
-
-
1Loss-
HIST1H2BJ-
-
-
-
1Loss-
HIST1H2BK-
-
-
-
1Loss-
HIST1H2BL-
-
-
-
1Loss-
HIST1H2BM-
-
-
-
1Loss-
HIST1H2BN-
-
-
-
1Loss-
HIST1H2BO-
-
-
-
1Loss-
HIST1H3A-
-
-
-
1Loss-
HIST1H3B-
-
-
-
1Loss-
HIST1H3C-
-
-
-
1Loss-
HIST1H3D-
-
-
-
1Loss-
HIST1H3E-
-
-
-
1Loss-
HIST1H3F-
-
-
-
1Loss-
HIST1H3G-
-
-
-
1Loss-
HIST1H3H-
-
-
-
1Loss-
HIST1H3I-
-
-
-
1Loss-
HIST1H3J-
-
-
-
1Loss-
HIST1H4A-
-
-
-
1Loss-
HIST1H4B-
-
-
-
1Loss-
HIST1H4C-
-
-
-
1Loss-
HIST1H4D-
-
-
-
1Loss-
HIST1H4E-
-
-
-
1Loss-
HIST1H4F-
-
-
-
1Loss-
HIST1H4G-
-
-
-
1Loss-
HIST1H4H-
-
-
-
1Loss-
HIST1H4I-
-
-
-
1Loss-
HIST1H4J-
-
-
-
1Loss-
HIST1H4K-
-
-
-
1Loss-
HIST1H4L-
-
-
-
1Loss-
HIST2H2AA3-
-
-
-
3Gain-
HIST2H2AA4-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIST2H2BF-
-
-
-
3Gain-
HIST2H3A-
-
-
-
3Gain-
HIST2H3C-
-
-
-
3Gain-
HIST2H3D-
-
-
-
3Gain-
HIST2H3PS2-
-
-
-
3Gain-
HIST2H4A-
-
-
-
3Gain-
HIST2H4B-
-
-
-
3Gain-
HIVEP1-
-
-
-
1Loss-
HIVEP2-
-
-
-
1Loss-
HJURP-
-
-
-
1Loss-
HJV-
-
-
-
3Gain-
HK1-
-
-
-
1Loss-
HK3-
-
-
-
1Loss-
HKDC1-
-
-
-
1Loss-
HLA-A-
-
-
-
1Loss-
HLA-B-
-
-
-
1Loss-
HLA-C-
-
-
-
1Loss-
HLA-DMA-
-
-
-
1Loss-
HLA-DMB-
-
-
-
1Loss-
HLA-DOA-
-
-
-
1Loss-
HLA-DOB-
-
-
-
1Loss-
HLA-DPA1-
-
-
-
1Loss-
HLA-DPB1-
-
-
-
1Loss-
HLA-DQA1-
-
-
-
1Loss-
HLA-DQA2-
-
-
-
1Loss-
HLA-DQB1-
-
-
-
1Loss-
HLA-DQB2-
-
-
-
1Loss-
HLA-DRA-
-
-
-
1Loss-
HLA-DRB1-
-
-
-
1Loss-
HLA-DRB5-
-
-
-
1Loss-
HLA-E-
-
-
-
1Loss-
HLA-F-
-
-
-
1Loss-
HLA-G-
-
-
-
1Loss-
HLTF-
-
-
-
5Amp-
HMBOX1-
-
-
-
1Loss-
HMBS-
-
-
-
1Loss-
HMCES-
-
-
-
5Amp-
HMCN1-
-
-
-
3Gain-
HMGA1-
-
-
-
1Loss-
HMGA2-
-
-
-
1Loss-
HMGCLL1-
-
-
-
1Loss-
HMGCS2-
-
-
-
1Loss-
HMGN4-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HMX2-
-
-
-
1Loss-
HMX3-
-
-
-
1Loss-
HNF4G-
-
-
-
3Gain-
HNRNPA1-
-
-
-
1Loss-
HNRNPA3-
-
-
-
3Gain-
HNRNPAB-
-
-
-
1Loss-
HNRNPC-
-
-
-
1Loss-
HNRNPF-
-
-
-
1Loss-
HNRNPH1-
-
-
-
1Loss-
HNRNPH3-
-
-
-
1Loss-
HNRNPK-
-
-
-
3Gain-
HNRNPL-
-
-
-
3Gain-
HNRNPUL2-
-
-
-
1Loss-
HNRNPUL2-BSCL2-
-
-
-
1Loss-
HOGA1-
-
-
-
1Loss-
HOMEZ-
-
-
-
5Amp-
HOOK3-
-
-
-
3Gain-
HORMAD1-
-
-
-
3Gain-
HOXC10-
-
-
-
1Loss-
HOXC11-
-
-
-
1Loss-
HOXC12-
-
-
-
1Loss-
HOXC13-
-
-
-
1Loss-
HOXC4-
-
-
-
1Loss-
HOXC5-
-
-
-
1Loss-
HOXC6-
-
-
-
1Loss-
HOXC8-
-
-
-
1Loss-
HOXC9-
-
-
-
1Loss-
HOXD1-
-
-
-
3Gain-
HOXD10-
-
-
-
3Gain-
HOXD11-
-
-
-
3Gain-
HOXD12-
-
-
-
3Gain-
HOXD13-
-
-
-
3Gain-
HOXD3-
-
-
-
3Gain-
HOXD4-
-
-
-
3Gain-
HOXD8-
-
-
-
3Gain-
HOXD9-
-
-
-
3Gain-
HPF1-
-
-
-
3Gain-
HPS1-
-
-
-
1Loss-
HPS3-
-
-
-
5Amp-
HPS5-
-
-
-
1Loss-
HPS6-
-
-
-
1Loss-
HPSE2-
-
-
-
1Loss-
HPX-
-
-
-
1Loss-
HR-
-
-
-
1Loss-
HRAS-
-
-
-
1Loss-
HRASLS-
-
-
-
7Amp-
HRASLS2-
-
-
-
1Loss-
HRASLS5-
-
-
-
1Loss-
HRG-
-
-
-
7Amp-
HRH1-
-
-
-
1Loss-
HRH2-
-
-
-
1Loss-
HRNR-
-
-
-
3Gain-
HS2ST1-
-
-
-
1Loss-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HS6ST3-
-
-
-
1Loss-
HSBP1-
-
-
-
3Gain-
HSD17B12-
-
-
-
1Loss-
HSD17B2-
-
-
-
3Gain-
HSD17B3-
-
-
-
3Gain-
HSD17B6-
-
-
-
1Loss-
HSD17B7-
-
-
-
3Gain-
HSD17B8-
-
-
-
1Loss-
HSD3B1-
-
-
-
1Loss-
HSD3B2-
-
-
-
1Loss-
HSDL1-
-
-
-
3Gain-
HSDL2-
-
-
-
3Gain-
HSF1-
-
-
-
4Gain-
HSP90AB1-
-
-
-
1Loss-
HSP90B1-
-
-
-
1Loss-
HSPA12A-
-
-
-
1Loss-
HSPA1A-
-
-
-
1Loss-
HSPA1B-
-
-
-
1Loss-
HSPA1L-
-
-
-
1Loss-
HSPA2-
-
-
-
1Loss-
HSPA4L-
-
-
-
3Gain-
HSPA6-
-
-
-
3Gain-
HSPA8-
-
-
-
1Loss-
HSPB2-
-
-
-
1Loss-
HSPB2-C11orf52-
-
-
-
1Loss-
HSPBAP1-
-
-
-
5Amp-
HSPD1-
-
-
-
3Gain-
HSPE1-
-
-
-
3Gain-
HSPE1-MOB4-
-
-
-
3Gain-
HTATIP2-
-
-
-
1Loss-
HTD2-
-
-
-
1Loss-
HTR1F-
-
-
-
1Loss-
HTR2B-
-
-
-
1Loss-
HTR3A-
-
-
-
1Loss-
HTR3B-
-
-
-
1Loss-
HTR3C-
-
-
-
7Amp-
HTR3D-
-
-
-
7Amp-
HTR3E-
-
-
-
7Amp-
HTR7-
-
-
-
1Loss-
HTRA1-
-
-
-
1Loss-
HTRA4-
-
-
-
3Gain-
HUS1B-
-
-
-
1Loss-
HVCN1-
-
-
-
1Loss-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
HYLS1-
-
-
-
1Loss-
HYOU1-
-
-
-
1Loss-
IARS-
-
-
-
3Gain-
ICA1-
-
-
-
3Gain-
ICA1L-
-
-
-
3Gain-
ICE1-
-
-
-
3Gain-
ICK-
-
-
-
1Loss-
ICOS-
-
-
-
3Gain-
ID4-
-
-
-
1Loss-
IDE-
-
-
-
1Loss-
IDH1-
-
-
-
3Gain-
IDNK-
-
-
-
3Gain-
IDO1-
-
-
-
3Gain-
IDO2-
-
-
-
3Gain-
IER3-
-
-
-
1Loss-
IER5-
-
-
-
3Gain-
IFI16-
-
-
-
3Gain-
IFI44-
-
-
-
1Loss-
IFI44L-
-
-
-
1Loss-
IFIT1-
-
-
-
1Loss-
IFIT1B-
-
-
-
1Loss-
IFIT2-
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-
1Loss-
IFIT3-
-
-
-
1Loss-
IFIT5-
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-
1Loss-
IFITM1-
-
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-
1Loss-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFNG-
-
-
-
1Loss-
IFNGR1-
-
-
-
1Loss-
IFRD2-
-
-
-
1Loss-
IFT122-
-
-
-
5Amp-
IFT43-
-
-
-
1Loss-
IFT46-
-
-
-
1Loss-
IFT57-
-
-
-
4Gain-
IFT80-
-
-
-
5Amp-
IFT81-
-
-
-
1Loss-
IGF1-
-
-
-
1Loss-
IGF2-
-
-
-
1Loss-
IGF2BP2-
-
-
-
7Amp-
IGFBP2-
-
-
-
3Gain-
IGFBP5-
-
-
-
3Gain-
IGFBP6-
-
-
-
1Loss-
IGHMBP2-
-
-
-
7Amp-
IGSF10-
-
-
-
5Amp-
IGSF11-
-
-
-
5Amp-
IGSF22-
-
-
-
1Loss-
IGSF3-
-
-
-
1Loss-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IGSF9B-
-
-
-
1Loss-
IHH-
-
-
-
3Gain-
IKBIP-
-
-
-
1Loss-
IKBKB-
-
-
-
3Gain-
IKZF2-
-
-
-
3Gain-
IKZF3-
-
-
-
8Amp-
IKZF4-
-
-
-
1Loss-
IKZF5-
-
-
-
1Loss-
IL10RA-
-
-
-
1Loss-
IL12A-
-
-
-
5Amp-
IL12B-
-
-
-
1Loss-
IL12RB2-
-
-
-
1Loss-
IL15-
-
-
-
3Gain-
IL17A-
-
-
-
1Loss-
IL17C-
-
-
-
1Loss-
IL17F-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL17RC-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL17RE-
-
-
-
1Loss-
IL18-
-
-
-
1Loss-
IL18BP-
-
-
-
1Loss-
IL1RAP-
-
-
-
7Amp-
IL2-
-
-
-
3Gain-
IL20RA-
-
-
-
1Loss-
IL20RB-
-
-
-
5Amp-
IL21-
-
-
-
3Gain-
IL22-
-
-
-
1Loss-
IL22RA2-
-
-
-
1Loss-
IL23A-
-
-
-
1Loss-
IL23R-
-
-
-
1Loss-
IL25-
-
-
-
5Amp-
IL26-
-
-
-
1Loss-
IL33-
-
-
-
1Loss-
IL5RA-
-
-
-
1Loss-
IL6R-
-
-
-
3Gain-
IL7-
-
-
-
3Gain-
ILDR1-
-
-
-
5Amp-
ILDR2-
-
-
-
3Gain-
ILF2-
-
-
-
3Gain-
ILK-
-
-
-
1Loss-
ILKAP-
-
-
-
1Loss-
IMMP1L-
-
-
-
1Loss-
IMPA1-
-
-
-
3Gain-
IMPAD1-
-
-
-
3Gain-
IMPDH2-
-
-
-
1Loss-
IMPG2-
-
-
-
4Gain-
INA-
-
-
-
1Loss-
INCA1-
-
-
-
1Loss-
INCENP-
-
-
-
1Loss-
ING5-
-
-
-
1Loss-
INHA-
-
-
-
3Gain-
INHBC-
-
-
-
1Loss-
INHBE-
-
-
-
1Loss-
INIP-
-
-
-
3Gain-
INKA1-
-
-
-
1Loss-
INKA2-
-
-
-
1Loss-
INO80D-
-
-
-
3Gain-
INPP1-
-
-
-
3Gain-
INPP4B-
-
-
-
3Gain-
INPP5A-
-
-
-
1Loss-
INPP5D-
-
-
-
1Loss-
INPP5F-
-
-
-
1Loss-
INPP5K-
-
-
-
1Loss-
INPPL1-
-
-
-
1Loss-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSC-
-
-
-
1Loss-
INSL4-
-
-
-
1Loss-
INSL5-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSM2-
-
-
-
1Loss-
INSRR-
-
-
-
3Gain-
INSYN2-
-
-
-
1Loss-
INSYN2B-
-
-
-
1Loss-
INTS1-
-
-
-
1Loss-
INTS10-
-
-
-
1Loss-
INTS3-
-
-
-
3Gain-
INTS4-
-
-
-
1Loss-
INTS5-
-
-
-
1Loss-
INTS8-
-
-
-
4Gain-
INTS9-
-
-
-
1Loss-
INTU-
-
-
-
3Gain-
INVS-
-
-
-
3Gain-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IP6K3-
-
-
-
1Loss-
IPMK-
-
-
-
1Loss-
IPO4-
-
-
-
1Loss-
IPO5-
-
-
-
1Loss-
IPO7-
-
-
-
1Loss-
IPPK-
-
-
-
3Gain-
IQANK1-
-
-
-
4Gain-
IQCA1-
-
-
-
1Loss-
IQCB1-
-
-
-
5Amp-
IQCD-
-
-
-
1Loss-
IQCE-
-
-
-
3Gain-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCG-
-
-
-
7Amp-
IQCJ-
-
-
-
5Amp-
IQCJ-SCHIP1-
-
-
-
5Amp-
IQGAP3-
-
-
-
3Gain-
IQSEC1-
-
-
-
1Loss-
IRAK2-
-
-
-
1Loss-
IRAK3-
-
-
-
1Loss-
IRAK4-
-
-
-
1Loss-
IRF2BPL-
-
-
-
1Loss-
IRF4-
-
-
-
1Loss-
IRF7-
-
-
-
1Loss-
IRF9-
-
-
-
1Loss-
IRS1-
-
-
-
3Gain-
IRX1-
-
-
-
3Gain-
IRX2-
-
-
-
3Gain-
IRX4-
-
-
-
3Gain-
ISCA1-
-
-
-
3Gain-
ISCA2-
-
-
-
1Loss-
ISCU-
-
-
-
1Loss-
ISG20L2-
-
-
-
3Gain-
ISM2-
-
-
-
1Loss-
ISY1-
-
-
-
5Amp-
ISY1-RAB43-
-
-
-
5Amp-
ITGA10-
-
-
-
3Gain-
ITGA4-
-
-
-
3Gain-
ITGA5-
-
-
-
1Loss-
ITGA6-
-
-
-
3Gain-
ITGA7-
-
-
-
1Loss-
ITGA9-
-
-
-
1Loss-
ITGAE-
-
-
-
1Loss-
ITGAV-
-
-
-
3Gain-
ITGB5-
-
-
-
5Amp-
ITGB7-
-
-
-
1Loss-
ITGBL1-
-
-
-
1Loss-
ITIH1-
-
-
-
1Loss-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITLN1-
-
-
-
3Gain-
ITLN2-
-
-
-
3Gain-
ITM2C-
-
-
-
1Loss-
ITPKA-
-
-
-
3Gain-
ITPR1-
-
-
-
1Loss-
ITPR3-
-
-
-
1Loss-
ITPRID2-
-
-
-
3Gain-
ITPRIP-
-
-
-
1Loss-
IVL-
-
-
-
3Gain-
IVNS1ABP-
-
-
-
3Gain-
IYD-
-
-
-
1Loss-
IZUMO1R-
-
-
-
9Amp-
JADE1-
-
-
-
3Gain-
JAGN1-
-
-
-
1Loss-
JAK2-
-
-
-
1Loss-
JAKMIP3-
-
-
-
1Loss-
JAM3-
-
-
-
1Loss-
JAML-
-
-
-
1Loss-
JARID2-
-
-
-
1Loss-
JDP2-
-
-
-
1Loss-
JHY-
-
-
-
1Loss-
JKAMP-
-
-
-
1Loss-
JMJD1C-
-
-
-
1Loss-
JPH1-
-
-
-
3Gain-
JPH4-
-
-
-
5Amp-
JRK-
-
-
-
4Gain-
JRKL-
-
-
-
1Loss-
JTB-
-
-
-
3Gain-
JUP-
-
-
-
3Gain-
KAAG1-
-
-
-
1Loss-
KALRN-
-
-
-
5Amp-
KANK1-
-
-
-
1Loss-
KANSL1L-
-
-
-
3Gain-
KANSL2-
-
-
-
1Loss-
KARS-
-
-
-
1Loss-
KAT2B-
-
-
-
1Loss-
KAT6A-
-
-
-
3Gain-
KAT6B-
-
-
-
1Loss-
KATNA1-
-
-
-
1Loss-
KAZALD1-
-
-
-
1Loss-
KBTBD12-
-
-
-
5Amp-
KBTBD3-
-
-
-
1Loss-
KBTBD4-
-
-
-
1Loss-
KBTBD8-
-
-
-
1Loss-
KCNA10-
-
-
-
1Loss-
KCNA2-
-
-
-
1Loss-
KCNA3-
-
-
-
1Loss-
KCNA4-
-
-
-
1Loss-
KCNAB1-
-
-
-
5Amp-
KCNAB3-
-
-
-
1Loss-
KCNB2-
-
-
-
3Gain-
KCNC1-
-
-
-
1Loss-
KCNC2-
-
-
-
1Loss-
KCNC4-
-
-
-
1Loss-
KCND3-
-
-
-
1Loss-
KCNE1B-
-
-
-
1Loss-
KCNE3-
-
-
-
1Loss-
KCNE4-
-
-
-
3Gain-
KCNG4-
-
-
-
3Gain-
KCNH3-
-
-
-
1Loss-
KCNH5-
-
-
-
1Loss-
KCNH8-
-
-
-
1Loss-
KCNIP1-
-
-
-
1Loss-
KCNIP2-
-
-
-
1Loss-
KCNJ1-
-
-
-
1Loss-
KCNJ10-
-
-
-
3Gain-
KCNJ11-
-
-
-
1Loss-
KCNJ12-
-
-
-
1Loss-
KCNJ13-
-
-
-
1Loss-
KCNJ18-
-
-
-
1Loss-
KCNJ5-
-
-
-
1Loss-
KCNJ9-
-
-
-
3Gain-
KCNK16-
-
-
-
1Loss-
KCNK17-
-
-
-
1Loss-
KCNK18-
-
-
-
1Loss-
KCNK4-
-
-
-
1Loss-
KCNK5-
-
-
-
1Loss-
KCNK9-
-
-
-
4Gain-
KCNMA1-
-
-
-
1Loss-
KCNMB1-
-
-
-
1Loss-
KCNMB2-
-
-
-
5Amp-
KCNMB3-
-
-
-
5Amp-
KCNMB4-
-
-
-
1Loss-
KCNN3-
-
-
-
3Gain-
KCNQ1-
-
-
-
1Loss-
KCNQ3-
-
-
-
4Gain-
KCNS2-
-
-
-
4Gain-
KCNU1-
-
-
-
3Gain-
KCNV1-
-
-
-
4Gain-
KCNV2-
-
-
-
1Loss-
KCTD10-
-
-
-
1Loss-
KCTD11-
-
-
-
1Loss-
KCTD14-
-
-
-
1Loss-
KCTD18-
-
-
-
3Gain-
KCTD20-
-
-
-
1Loss-
KCTD21-
-
-
-
1Loss-
KCTD6-
-
-
-
1Loss-
KCTD7-
-
-
-
1Loss-
KCTD9-
-
-
-
1Loss-
KDELC1-
-
-
-
1Loss-
KDELC2-
-
-
-
1Loss-
KDELR2-
-
-
-
3Gain-
KDM1B-
-
-
-
1Loss-
KDM4C-
-
-
-
1Loss-
KDM4D-
-
-
-
9Amp-
KDM4E-
-
-
-
9Amp-
KDM4F-
-
-
-
9Amp-
KDM6B-
-
-
-
1Loss-
KERA-
-
-
-
1Loss-
KHDC4-
-
-
-
3Gain-
KHDRBS3-
-
-
-
4Gain-
KHNYN-
-
-
-
1Loss-
KIAA0319-
-
-
-
1Loss-
KIAA0391-
-
-
-
1Loss-
KIAA0586-
-
-
-
1Loss-
KIAA0753-
-
-
-
1Loss-
KIAA1109-
-
-
-
3Gain-
KIAA1143-
-
-
-
1Loss-
KIAA1191-
-
-
-
1Loss-
KIAA1257-
-
-
-
5Amp-
KIAA1324-
-
-
-
1Loss-
KIAA1549L-
-
-
-
1Loss-
KIAA1614-
-
-
-
3Gain-
KIAA1958-
-
-
-
3Gain-
KIAA2012-
-
-
-
3Gain-
KIAA2026-
-
-
-
1Loss-
KIF11-
-
-
-
1Loss-
KIF12-
-
-
-
3Gain-
KIF13A-
-
-
-
1Loss-
KIF13B-
-
-
-
1Loss-
KIF15-
-
-
-
1Loss-
KIF18A-
-
-
-
1Loss-
KIF1A-
-
-
-
1Loss-
KIF1BP-
-
-
-
1Loss-
KIF1C-
-
-
-
1Loss-
KIF20B-
-
-
-
1Loss-
KIF21A-
-
-
-
1Loss-
KIF27-
-
-
-
3Gain-
KIF5A-
-
-
-
1Loss-
KIF6-
-
-
-
1Loss-
KIF9-
-
-
-
1Loss-
KIFAP3-
-
-
-
3Gain-
KIFC1-
-
-
-
1Loss-
KIFC2-
-
-
-
4Gain-
KIRREL1-
-
-
-
3Gain-
KIRREL3-
-
-
-
1Loss-
KITLG-
-
-
-
1Loss-
KLC4-
-
-
-
1Loss-
KLF10-
-
-
-
4Gain-
KLF15-
-
-
-
5Amp-
KLF4-
-
-
-
3Gain-
KLF7-
-
-
-
3Gain-
KLF9-
-
-
-
3Gain-
KLHDC3-
-
-
-
1Loss-
KLHDC4-
-
-
-
1Loss-
KLHDC8B-
-
-
-
1Loss-
KLHDC9-
-
-
-
3Gain-
KLHL18-
-
-
-
1Loss-
KLHL2-
-
-
-
3Gain-
KLHL20-
-
-
-
3Gain-
KLHL24-
-
-
-
7Amp-
KLHL28-
-
-
-
1Loss-
KLHL30-
-
-
-
1Loss-
KLHL31-
-
-
-
1Loss-
KLHL33-
-
-
-
1Loss-
KLHL35-
-
-
-
1Loss-
KLHL38-
-
-
-
4Gain-
KLHL40-
-
-
-
1Loss-
KLHL6-
-
-
-
7Amp-
KLLN-
-
-
-
1Loss-
KMT2A-
-
-
-
1Loss-
KMT2D-
-
-
-
1Loss-
KMT5B-
-
-
-
1Loss-
KNDC1-
-
-
-
1Loss-
KNG1-
-
-
-
7Amp-
KPNA1-
-
-
-
5Amp-
KPNA4-
-
-
-
5Amp-
KPRP-
-
-
-
3Gain-
KRBOX1-
-
-
-
1Loss-
KRR1-
-
-
-
1Loss-
KRT1-
-
-
-
1Loss-
KRT13-
-
-
-
3Gain-
KRT14-
-
-
-
3Gain-
KRT15-
-
-
-
3Gain-
KRT16-
-
-
-
3Gain-
KRT17-
-
-
-
3Gain-
KRT18-
-
-
-
1Loss-
KRT19-
-
-
-
3Gain-
KRT2-
-
-
-
1Loss-
KRT3-
-
-
-
1Loss-
KRT35-
-
-
-
3Gain-
KRT36-
-
-
-
3Gain-
KRT4-
-
-
-
1Loss-
KRT5-
-
-
-
1Loss-
KRT6A-
-
-
-
1Loss-
KRT6B-
-
-
-
1Loss-
KRT6C-
-
-
-
1Loss-
KRT7-
-
-
-
1Loss-
KRT71-
-
-
-
1Loss-
KRT72-
-
-
-
1Loss-
KRT73-
-
-
-
1Loss-
KRT74-
-
-
-
1Loss-
KRT75-
-
-
-
1Loss-
KRT76-
-
-
-
1Loss-
KRT77-
-
-
-
1Loss-
KRT78-
-
-
-
1Loss-
KRT79-
-
-
-
1Loss-
KRT8-
-
-
-
1Loss-
KRT80-
-
-
-
1Loss-
KRT81-
-
-
-
1Loss-
KRT82-
-
-
-
1Loss-
KRT83-
-
-
-
1Loss-
KRT84-
-
-
-
1Loss-
KRT85-
-
-
-
1Loss-
KRT86-
-
-
-
1Loss-
KRT9-
-
-
-
3Gain-
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-10-
-
-
-
1Loss-
KRTAP5-11-
-
-
-
1Loss-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3-
-
-
-
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KRTAP5-7-
-
-
-
1Loss-
KRTAP5-8-
-
-
-
1Loss-
KRTAP5-9-
-
-
-
1Loss-
KRTCAP2-
-
-
-
3Gain-
KTN1-
-
-
-
1Loss-
KY-
-
-
-
5Amp-
KYAT3-
-
-
-
1Loss-
L3HYPDH-
-
-
-
1Loss-
L3MBTL3-
-
-
-
1Loss-
LACRT-
-
-
-
1Loss-
LALBA-
-
-
-
1Loss-
LAMB2-
-
-
-
1Loss-
LAMC1-
-
-
-
3Gain-
LAMC2-
-
-
-
3Gain-
LAMP3-
-
-
-
7Amp-
LAMTOR1-
-
-
-
1Loss-
LAMTOR2-
-
-
-
3Gain-
LAMTOR5-
-
-
-
1Loss-
LANCL1-
-
-
-
3Gain-
LAPTM4B-
-
-
-
4Gain-
LARGE2-
-
-
-
1Loss-
LARP1B-
-
-
-
3Gain-
LARP4-
-
-
-
1Loss-
LARS2-
-
-
-
1Loss-
LATS1-
-
-
-
1Loss-
LAYN-
-
-
-
1Loss-
LBHD1-
-
-
-
1Loss-
LBX1-
-
-
-
1Loss-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1D-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCOR-
-
-
-
1Loss-
LCP2-
-
-
-
1Loss-
LDB1-
-
-
-
1Loss-
LDB3-
-
-
-
1Loss-
LDHA-
-
-
-
1Loss-
LDHAL6A-
-
-
-
1Loss-
LDHC-
-
-
-
1Loss-
LDHD-
-
-
-
1Loss-
LDLRAD3-
-
-
-
1Loss-
LEKR1-
-
-
-
5Amp-
LELP1-
-
-
-
3Gain-
LEMD2-
-
-
-
1Loss-
LEMD3-
-
-
-
1Loss-
LENEP-
-
-
-
3Gain-
LEPROTL1-
-
-
-
1Loss-
LETM2-
-
-
-
3Gain-
LETMD1-
-
-
-
1Loss-
LFNG-
-
-
-
3Gain-
LGALS12-
-
-
-
1Loss-
LGALS3-
-
-
-
1Loss-
LGALS4-
-
-
-
3Gain-
LGALS7-
-
-
-
3Gain-
LGALS7B-
-
-
-
3Gain-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGI1-
-
-
-
1Loss-
LGI3-
-
-
-
1Loss-
LGR4-
-
-
-
1Loss-
LGR5-
-
-
-
1Loss-
LHFPL4-
-
-
-
1Loss-
LHFPL5-
-
-
-
1Loss-
LHPP-
-
-
-
1Loss-
LHX4-
-
-
-
3Gain-
LHX5-
-
-
-
1Loss-
LHX8-
-
-
-
1Loss-
LIG4-
-
-
-
1Loss-
LIMA1-
-
-
-
1Loss-
LIMD1-
-
-
-
1Loss-
LIN52-
-
-
-
1Loss-
LIN7A-
-
-
-
1Loss-
LIN7C-
-
-
-
1Loss-
LINGO4-
-
-
-
3Gain-
LIPA-
-
-
-
1Loss-
LIPF-
-
-
-
1Loss-
LIPH-
-
-
-
7Amp-
LIPI-
-
-
-
1Loss-
LIPJ-
-
-
-
1Loss-
LIPK-
-
-
-
1Loss-
LIPM-
-
-
-
1Loss-
LIPN-
-
-
-
1Loss-
LIPT2-
-
-
-
1Loss-
LIX1L-
-
-
-
3Gain-
LLGL1-
-
-
-
1Loss-
LLPH-
-
-
-
1Loss-
LMAN2-
-
-
-
1Loss-
LMBR1L-
-
-
-
1Loss-
LMCD1-
-
-
-
1Loss-
LMLN-
-
-
-
7Amp-
LMLN2-
-
-
-
5Amp-
LMNA-
-
-
-
3Gain-
LMNTD2-
-
-
-
1Loss-
LMO1-
-
-
-
1Loss-
LMO2-
-
-
-
1Loss-
LMO4-
-
-
-
1Loss-
LMOD3-
-
-
-
1Loss-
LMX1A-
-
-
-
3Gain-
LNP1-
-
-
-
4Gain-
LNPK-
-
-
-
3Gain-
LOR-
-
-
-
3Gain-
LOXL2-
-
-
-
1Loss-
LOXL4-
-
-
-
1Loss-
LPAR1-
-
-
-
3Gain-
LPAR3-
-
-
-
1Loss-
LPCAT1-
-
-
-
3Gain-
LPL-
-
-
-
1Loss-
LPP-
-
-
-
7Amp-
LRAT-
-
-
-
3Gain-
LRBA-
-
-
-
3Gain-
LRCH3-
-
-
-
7Amp-
LRFN2-
-
-
-
1Loss-
LRFN5-
-
-
-
1Loss-
LRIF1-
-
-
-
1Loss-
LRIG1-
-
-
-
1Loss-
LRIG2-
-
-
-
1Loss-
LRIG3-
-
-
-
1Loss-
LRIT1-
-
-
-
1Loss-
LRIT2-
-
-
-
1Loss-
LRMDA-
-
-
-
1Loss-
LRP1-
-
-
-
1Loss-
LRP10-
-
-
-
5Amp-
LRP11-
-
-
-
1Loss-
LRP12-
-
-
-
4Gain-
LRP4-
-
-
-
1Loss-
LRP5-
-
-
-
1Loss-
LRRC1-
-
-
-
1Loss-
LRRC10-
-
-
-
1Loss-
LRRC10B-
-
-
-
1Loss-
LRRC14-
-
-
-
4Gain-
LRRC14B-
-
-
-
3Gain-
LRRC15-
-
-
-
7Amp-
LRRC18-
-
-
-
1Loss-
LRRC2-
-
-
-
1Loss-
LRRC20-
-
-
-
1Loss-
LRRC24-
-
-
-
4Gain-
LRRC27-
-
-
-
1Loss-
LRRC31-
-
-
-
5Amp-
LRRC32-
-
-
-
1Loss-
LRRC34-
-
-
-
5Amp-
LRRC39-
-
-
-
1Loss-
LRRC3B-
-
-
-
1Loss-
LRRC40-
-
-
-
1Loss-
LRRC45-
-
-
-
1Loss-
LRRC4C-
-
-
-
1Loss-
LRRC52-
-
-
-
3Gain-
LRRC53-
-
-
-
1Loss-
LRRC56-
-
-
-
1Loss-
LRRC58-
-
-
-
5Amp-
LRRC6-
-
-
-
4Gain-
LRRC69-
-
-
-
4Gain-
LRRC7-
-
-
-
1Loss-
LRRC71-
-
-
-
3Gain-
LRRC73-
-
-
-
1Loss-
LRRC74A-
-
-
-
1Loss-
LRRC75A-
-
-
-
1Loss-
LRRC8B-
-
-
-
1Loss-
LRRC8C-
-
-
-
1Loss-
LRRC8D-
-
-
-
1Loss-
LRRC9-
-
-
-
1Loss-
LRRCC1-
-
-
-
3Gain-
LRRFIP1-
-
-
-
1Loss-
LRRFIP2-
-
-
-
1Loss-
LRRIQ1-
-
-
-
1Loss-
LRRIQ3-
-
-
-
1Loss-
LRRIQ4-
-
-
-
5Amp-
LRRK2-
-
-
-
1Loss-
LRRN1-
-
-
-
1Loss-
LRRN4CL-
-
-
-
1Loss-
LRRTM3-
-
-
-
1Loss-
LRTM1-
-
-
-
1Loss-
LRTOMT-
-
-
-
1Loss-
LSAMP-
-
-
-
4Gain-
LSG1-
-
-
-
7Amp-
LSM1-
-
-
-
3Gain-
LSM2-
-
-
-
1Loss-
LSM3-
-
-
-
1Loss-
LSM6-
-
-
-
3Gain-
LSMEM2-
-
-
-
1Loss-
LSP1-
-
-
-
1Loss-
LST1-
-
-
-
1Loss-
LTA-
-
-
-
1Loss-
LTA4H-
-
-
-
1Loss-
LTB-
-
-
-
1Loss-
LTB4R-
-
-
-
1Loss-
LTB4R2-
-
-
-
1Loss-
LTBP2-
-
-
-
1Loss-
LTBP3-
-
-
-
3Gain-
LTC4S-
-
-
-
1Loss-
LTF-
-
-
-
1Loss-
LTK-
-
-
-
3Gain-
LTO1-
-
-
-
15Amp-
LTV1-
-
-
-
1Loss-
LUM-
-
-
-
1Loss-
LUZP2-
-
-
-
1Loss-
LXN-
-
-
-
5Amp-
LY6D-
-
-
-
4Gain-
LY6E-
-
-
-
4Gain-
LY6G5B-
-
-
-
1Loss-
LY6G5C-
-
-
-
1Loss-
LY6G6C-
-
-
-
1Loss-
LY6G6D-
-
-
-
1Loss-
LY6G6E-
-
-
-
1Loss-
LY6G6F-
-
-
-
1Loss-
LY6G6F-LY6G6D-
-
-
-
1Loss-
LY6H-
-
-
-
4Gain-
LY6K-
-
-
-
4Gain-
LY6L-
-
-
-
4Gain-
LY86-
-
-
-
1Loss-
LY9-
-
-
-
3Gain-
LY96-
-
-
-
3Gain-
LYN-
-
-
-
3Gain-
LYNX1-
-
-
-
4Gain-
LYNX1-SLURP2-
-
-
-
4Gain-
LYPD2-
-
-
-
4Gain-
LYPLA1-
-
-
-
3Gain-
LYRM4-
-
-
-
1Loss-
LYSMD1-
-
-
-
3Gain-
LYVE1-
-
-
-
1Loss-
LYZ-
-
-
-
1Loss-
LYZL4-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
LZTS1-
-
-
-
1Loss-
LZTS2-
-
-
-
1Loss-
MAATS1-
-
-
-
5Amp-
MAB21L2-
-
-
-
3Gain-
MAB21L3-
-
-
-
1Loss-
MAB21L4-
-
-
-
1Loss-
MACROD1-
-
-
-
1Loss-
MAD1L1-
-
-
-
3Gain-
MAD2L1-
-
-
-
3Gain-
MAD2L1BP-
-
-
-
1Loss-
MADD-
-
-
-
1Loss-
MAEL-
-
-
-
3Gain-
MAF1-
-
-
-
4Gain-
MAFA-
-
-
-
4Gain-
MAFG-
-
-
-
1Loss-
MAFK-
-
-
-
1Loss-
MAGEF1-
-
-
-
7Amp-
MAGI1-
-
-
-
1Loss-
MAGI3-
-
-
-
1Loss-
MAIP1-
-
-
-
3Gain-
MAK-
-
-
-
1Loss-
MAK16-
-
-
-
3Gain-
MAL2-
-
-
-
4Gain-
MAMDC2-
-
-
-
3Gain-
MAML1-
-
-
-
1Loss-
MAML2-
-
-
-
1Loss-
MAML3-
-
-
-
3Gain-
MAN1A2-
-
-
-
1Loss-
MANF-
-
-
-
1Loss-
MAP2-
-
-
-
3Gain-
MAP2K3-
-
-
-
1Loss-
MAP2K4-
-
-
-
1Loss-
MAP3K12-
-
-
-
1Loss-
MAP3K13-
-
-
-
7Amp-
MAP3K20-
-
-
-
3Gain-
MAP3K5-
-
-
-
1Loss-
MAP3K9-
-
-
-
1Loss-
MAP4-
-
-
-
1Loss-
MAP4K2-
-
-
-
1Loss-
MAP4K5-
-
-
-
3Gain-
MAP6-
-
-
-
1Loss-
MAP6D1-
-
-
-
7Amp-
MAP7-
-
-
-
1Loss-
MAP9-
-
-
-
3Gain-
MAPK13-
-
-
-
1Loss-
MAPK14-
-
-
-
1Loss-
MAPK15-
-
-
-
4Gain-
MAPK1IP1L-
-
-
-
1Loss-
MAPK7-
-
-
-
1Loss-
MAPK8-
-
-
-
1Loss-
MAPK8IP1-
-
-
-
1Loss-
MAPK9-
-
-
-
1Loss-
MAPKAPK3-
-
-
-
1Loss-
MAPKAPK5-
-
-
-
1Loss-
MARCH1-
-
-
-
3Gain-
MARCH11-
-
-
-
3Gain-
MARCH4-
-
-
-
3Gain-
MARCH5-
-
-
-
1Loss-
MARCH6-
-
-
-
3Gain-
MARCH8-
-
-
-
1Loss-
MARCH9-
-
-
-
1Loss-
MARK2-
-
-
-
1Loss-
MARS-
-
-
-
1Loss-
MARS2-
-
-
-
3Gain-
MARVELD1-
-
-
-
1Loss-
MAS1L-
-
-
-
1Loss-
MASP1-
-
-
-
7Amp-
MAT1A-
-
-
-
1Loss-
MAT2B-
-
-
-
1Loss-
MATN2-
-
-
-
4Gain-
MAX-
-
-
-
1Loss-
MB21D2-
-
-
-
7Amp-
MBD4-
-
-
-
5Amp-
MBD6-
-
-
-
1Loss-
MBIP-
-
-
-
1Loss-
MBL2-
-
-
-
1Loss-
MBNL1-
-
-
-
5Amp-
MBNL2-
-
-
-
1Loss-
MBOAT1-
-
-
-
1Loss-
MBOAT4-
-
-
-
1Loss-
MBTPS1-
-
-
-
3Gain-
MCAM-
-
-
-
1Loss-
MCCC1-
-
-
-
7Amp-
MCCD1-
-
-
-
1Loss-
MCF2L2-
-
-
-
7Amp-
MCL1-
-
-
-
3Gain-
MCM2-
-
-
-
5Amp-
MCM3-
-
-
-
1Loss-
MCM4-
-
-
-
3Gain-
MCMBP-
-
-
-
1Loss-
MCMDC2-
-
-
-
3Gain-
MCOLN2-
-
-
-
1Loss-
MCOLN3-
-
-
-
1Loss-
MCRIP1-
-
-
-
1Loss-
MCRS1-
-
-
-
1Loss-
MCU-
-
-
-
1Loss-
MCUR1-
-
-
-
1Loss-
MDC1-
-
-
-
1Loss-
MDFI-
-
-
-
1Loss-
MDGA1-
-
-
-
1Loss-
MDGA2-
-
-
-
1Loss-
MDH1B-
-
-
-
3Gain-
MDK-
-
-
-
1Loss-
MDM1-
-
-
-
1Loss-
MDM2-
-
-
-
1Loss-
MDP1-
-
-
-
1Loss-
ME3-
-
-
-
1Loss-
MEA1-
-
-
-
1Loss-
MECOM-
-
-
-
5AmpMECOM--TPRG1
MED10-
-
-
-
3Gain-
MED11-
-
-
-
1Loss-
MED12L-
-
-
-
5Amp-
MED13L-
-
-
-
1Loss-
MED17-
-
-
-
1Loss-
MED20-
-
-
-
1Loss-
MED23-
-
-
-
1Loss-
MED24-
-
-
-
3Gain-
MED30-
-
-
-
4Gain-
MED31-
-
-
-
1Loss-
MED6-
-
-
-
1Loss-
MED9-
-
-
-
1Loss-
MEF2D-
-
-
-
3Gain-
MELTF-
-
-
-
7Amp-
MEN1-
-
-
-
1Loss-
MEP1A-
-
-
-
1Loss-
METAP1D-
-
-
-
3Gain-
METAP2-
-
-
-
1Loss-
METRNL-
-
-
-
1Loss-
METTL1-
-
-
-
1Loss-
METTL11B-
-
-
-
3Gain-
METTL13-
-
-
-
3Gain-
METTL14-
-
-
-
3Gain-
METTL15-
-
-
-
1Loss-
METTL16-
-
-
-
1Loss-
METTL17-
-
-
-
1Loss-
METTL18-
-
-
-
3Gain-
METTL21A-
-
-
-
3Gain-
METTL21C-
-
-
-
1Loss-
METTL25-
-
-
-
1Loss-
METTL3-
-
-
-
1Loss-
METTL6-
-
-
-
1Loss-
METTL7A-
-
-
-
1Loss-
METTL7B-
-
-
-
1Loss-
MEX3A-
-
-
-
3Gain-
MFAP3L-
-
-
-
3Gain-
MFAP4-
-
-
-
1Loss-
MFF-
-
-
-
3Gain-
MFN1-
-
-
-
5Amp-
MFRP-
-
-
-
1Loss-
MFSD1-
-
-
-
5Amp-
MFSD13A-
-
-
-
1Loss-
MFSD14A-
-
-
-
1Loss-
MFSD14B-
-
-
-
3Gain-
MFSD14C-
-
-
-
3Gain-
MFSD3-
-
-
-
4Gain-
MFSD5-
-
-
-
1Loss-
MFSD6-
-
-
-
3Gain-
MFSD6L-
-
-
-
1Loss-
MFSD8-
-
-
-
3Gain-
MGARP-
-
-
-
3Gain-
MGAT1-
-
-
-
1Loss-
MGAT4B-
-
-
-
1Loss-
MGAT4C-
-
-
-
1Loss-
MGAT4D-
-
-
-
3Gain-
MGLL-
-
-
-
5Amp-
MGMT-
-
-
-
1Loss-
MGST2-
-
-
-
3Gain-
MGST3-
-
-
-
3Gain-
MIA2-
-
-
-
1Loss-
MICA-
-
-
-
1Loss-
MICAL2-
-
-
-
1Loss-
MICAL3-
-
-
-
1Loss-
MICALL2-
-
-
-
1Loss-
MICB-
-
-
-
1Loss-
MICU1-
-
-
-
1Loss-
MICU3-
-
-
-
1Loss-
MIEF2-
-
-
-
1Loss-
MIEN1-
-
-
-
14Amp-
MIER1-
-
-
-
1Loss-
MIGA1-
-
-
-
1Loss-
MINDY1-
-
-
-
3Gain-
MINDY4B-
-
-
-
5Amp-
MINK1-
-
-
-
1Loss-
MINPP1-
-
-
-
1Loss-
MIOS-
-
-
-
3Gain-
MIP-
-
-
-
1Loss-
MIPOL1-
-
-
-
1Loss-
MIS12-
-
-
-
1Loss-
MIS18BP1-
-
-
-
1Loss-
MITF-
-
-
-
1Loss-
MKI67-
-
-
-
1Loss-
MKRN2-
-
-
-
1Loss-
MKRN2OS-
-
-
-
1Loss-
MLANA-
-
-
-
1Loss-
MLF1-
-
-
-
5Amp-
MLH1-
-
-
-
1Loss-
MLH3-
-
-
-
1Loss-
MLIP-
-
-
-
1Loss-
MLLT11-
-
-
-
4Gain-
MLN-
-
-
-
1Loss-
MLPH-
-
-
-
1Loss-
MLST8-
-
-
-
3Gain-
MLYCD-
-
-
-
3Gain-
MMAA-
-
-
-
3Gain-
MMAB-
-
-
-
1Loss-
MMD2-
-
-
-
3Gain-
MME-
-
-
-
5Amp-
MMP1-
-
-
-
12Amp-
MMP10-
-
-
-
12Amp-
MMP12-
-
-
-
12Amp-
MMP13-
-
-
-
12Amp-
MMP14-
-
-
-
5Amp-
MMP16-
-
-
-
4Gain-
MMP19-
-
-
-
1Loss-
MMP20-
-
-
-
12Amp-
MMP21-
-
-
-
1Loss-
MMP26-
-
-
-
1Loss-
MMP27-
-
-
-
12Amp-
MMP3-
-
-
-
12Amp-
MMP7-
-
-
-
12Amp-
MMP8-
-
-
-
12Amp-
MMRN2-
-
-
-
1Loss-
MMS19-
-
-
-
1LossOXSR1--MMS19
MNAT1-
-
-
-
1Loss-
MND1-
-
-
-
3Gain-
MNDA-
-
-
-
3Gain-
MNT-
-
-
-
1Loss-
MOB2-
-
-
-
1Loss-
MOB4-
-
-
-
3Gain-
MOBP-
-
-
-
1Loss-
MOCS1-
-
-
-
1Loss-
MOG-
-
-
-
1Loss-
MOGAT1-
-
-
-
3Gain-
MOGAT2-
-
-
-
1Loss-
MON1B-
-
-
-
1Loss-
MON2-
-
-
-
1Loss-
MORC1-
-
-
-
4Gain-
MORN4-
-
-
-
1Loss-
MOS-
-
-
-
3Gain-
MOV10-
-
-
-
1Loss-
MOXD1-
-
-
-
1Loss-
MPC2-
-
-
-
3Gain-
MPDU1-
-
-
-
1Loss-
MPHOSPH6-
-
-
-
3Gain-
MPIG6B-
-
-
-
1Loss-
MPP4-
-
-
-
3Gain-
MPP5-
-
-
-
1Loss-
MPPED2-
-
-
-
1Loss-
MPRIP-
-
-
-
1Loss-
MPZ-
-
-
-
3Gain-
MPZL1-
-
-
-
3Gain-
MPZL2-
-
-
-
1Loss-
MPZL3-
-
-
-
1Loss-
MR1-
-
-
-
3Gain-
MRAS-
-
-
-
5Amp-
MRE11-
-
-
-
9Amp-
MREG-
-
-
-
3Gain-
MRGPRD-
-
-
-
7Amp-
MRGPRE-
-
-
-
1Loss-
MRGPRF-
-
-
-
7Amp-
MRGPRG-
-
-
-
1Loss-
MRGPRX1-
-
-
-
1Loss-
MRGPRX2-
-
-
-
1Loss-
MRGPRX3-
-
-
-
1Loss-
MRGPRX4-
-
-
-
1Loss-
MRM2-
-
-
-
3Gain-
MRM3-
-
-
-
1Loss-
MRNIP-
-
-
-
1Loss-
MROH1-
-
-
-
4Gain-
MROH2A-
-
-
-
1Loss-
MROH5-
-
-
-
4Gain-
MROH6-
-
-
-
4Gain-
MROH9-
-
-
-
3Gain-
MRPL13-
-
-
-
4Gain-
MRPL14-
-
-
-
1Loss-
MRPL15-
-
-
-
3Gain-
MRPL16-
-
-
-
1Loss-
MRPL17-
-
-
-
1Loss-
MRPL2-
-
-
-
1Loss-
MRPL21-
-
-
-
7Amp-
MRPL23-
-
-
-
1Loss-
MRPL24-
-
-
-
3Gain-
MRPL3-
-
-
-
5Amp-
MRPL36-
-
-
-
3Gain-
MRPL42-
-
-
-
1Loss-
MRPL43-
-
-
-
1Loss-
MRPL44-
-
-
-
3Gain-
MRPL47-
-
-
-
5Amp-
MRPL48-
-
-
-
1Loss-
MRPL50-
-
-
-
3Gain-
MRPL52-
-
-
-
3Gain-
MRPL9-
-
-
-
3Gain-
MRPS10-
-
-
-
1Loss-
MRPS14-
-
-
-
3Gain-
MRPS16-
-
-
-
1Loss-
MRPS18A-
-
-
-
1Loss-
MRPS18B-
-
-
-
1Loss-
MRPS21-
-
-
-
3Gain-
MRPS22-
-
-
-
5Amp-
MRPS25-
-
-
-
1Loss-
MRPS28-
-
-
-
3Gain-
MRS2-
-
-
-
1Loss-
MRVI1-
-
-
-
1Loss-
MS4A1-
-
-
-
1Loss-
MS4A10-
-
-
-
1Loss-
MS4A12-
-
-
-
1Loss-
MS4A13-
-
-
-
1Loss-
MS4A14-
-
-
-
1Loss-
MS4A15-
-
-
-
1Loss-
MS4A18-
-
-
-
1Loss-
MS4A2-
-
-
-
1Loss-
MS4A3-
-
-
-
1Loss-
MS4A4A-
-
-
-
1Loss-
MS4A4E-
-
-
-
1Loss-
MS4A5-
-
-
-
1Loss-
MS4A6A-
-
-
-
1Loss-
MS4A6E-
-
-
-
1Loss-
MS4A7-
-
-
-
1Loss-
MS4A8-
-
-
-
1Loss-
MSANTD2-
-
-
-
1Loss-
MSANTD3-
-
-
-
3Gain-
MSANTD3-TMEFF1-
-
-
-
3Gain-
MSANTD4-
-
-
-
1Loss-
MSC-
-
-
-
3Gain-
MSH4-
-
-
-
1Loss-
MSH5-
-
-
-
1Loss-
MSH5-SAPCD1-
-
-
-
1Loss-
MSL2-
-
-
-
5Amp-
MSMB-
-
-
-
1Loss-
MSMO1-
-
-
-
3Gain-
MSRB3-
-
-
-
1Loss-
MSS51-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MSTN-
-
-
-
3Gain-
MSTO1-
-
-
-
3Gain-
MSX2-
-
-
-
1Loss-
MTA2-
-
-
-
1Loss-
MTBP-
-
-
-
4Gain-
MTCH1-
-
-
-
1Loss-
MTCH2-
-
-
-
1Loss-
MTDH-
-
-
-
4Gain-
MTERF2-
-
-
-
1Loss-
MTERF3-
-
-
-
4Gain-
MTERF4-
-
-
-
1Loss-
MTF2-
-
-
-
1Loss-
MTFR1-
-
-
-
3Gain-
MTFR2-
-
-
-
1Loss-
MTG1-
-
-
-
1Loss-
MTHFD1-
-
-
-
1Loss-
MTHFD1L-
-
-
-
1Loss-
MTMR11-
-
-
-
3Gain-
MTMR14-
-
-
-
1Loss-
MTMR2-
-
-
-
1Loss-
MTMR7-
-
-
-
1Loss-
MTNR1B-
-
-
-
1Loss-
MTRR-
-
-
-
3Gain-
MTSS1-
-
-
-
4Gain-
MTUS1-
-
-
-
1Loss-
MTX1-
-
-
-
3Gain-
MTX2-
-
-
-
3Gain-
MUC1-
-
-
-
3Gain-
MUC13-
-
-
-
5Amp-
MUC15-
-
-
-
1Loss-
MUC19-
-
-
-
1Loss-
MUC2-
-
-
-
1Loss-
MUC20-
-
-
-
7Amp-
MUC21-
-
-
-
1Loss-
MUC22-
-
-
-
1Loss-
MUC4-
-
-
-
7Amp-
MUC5AC-
-
-
-
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUCL1-
-
-
-
1Loss-
MUCL3-
-
-
-
1Loss-
MUSK-
-
-
-
3Gain-
MUSTN1-
-
-
-
1Loss-
MUT-
-
-
-
1Loss-
MVD-
-
-
-
1Loss-
MVK-
-
-
-
1Loss-
MXD3-
-
-
-
1Loss-
MXI1-
-
-
-
1Loss-
MYADML2-
-
-
-
1Loss-
MYB-
-
-
-
1Loss-
MYBBP1A-
-
-
-
1Loss-
MYBL1-
-
-
-
3Gain-
MYBPC1-
-
-
-
1Loss-
MYBPC3-
-
-
-
1Loss-
MYBPHL-
-
-
-
1Loss-
MYC-
-
-
-
4Gain-
MYD88-
-
-
-
1Loss-
MYEOV-
-
-
-
7Amp-
MYF5-
-
-
-
1Loss-
MYF6-
-
-
-
1Loss-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH13-
-
-
-
1Loss-
MYH15-
-
-
-
4Gain-
MYH2-
-
-
-
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH6-
-
-
-
5Amp-
MYH7-
-
-
-
5Amp-
MYH8-
-
-
-
1Loss-
MYL1-
-
-
-
3Gain-
MYL2-
-
-
-
1Loss-
MYL3-
-
-
-
1Loss-
MYL6-
-
-
-
1Loss-
MYL6B-
-
-
-
1Loss-
MYLIP-
-
-
-
1Loss-
MYLK-
-
-
-
5Amp-
MYLK4-
-
-
-
1Loss-
MYMX-
-
-
-
1Loss-
MYNN-
-
-
-
5Amp-
MYO10-
-
-
-
3Gain-
MYO15A-
-
-
-
1Loss-
MYO16-
-
-
-
1Loss-
MYO1A-
-
-
-
1Loss-
MYO1B-
-
-
-
3Gain-
MYO1C-
-
-
-
1Loss-
MYO1H-
-
-
-
1Loss-
MYO7A-
-
-
-
1Loss-
MYOC-
-
-
-
3Gain-
MYOCD-
-
-
-
1Loss-
MYOCOS-
-
-
-
3Gain-
MYOD1-
-
-
-
1Loss-
MYOF-
-
-
-
1Loss-
MYOZ1-
-
-
-
1Loss-
MYOZ2-
-
-
-
3Gain-
MYPN-
-
-
-
1Loss-
MYRF-
-
-
-
1Loss-
MYRFL-
-
-
-
1Loss-
MYRIP-
-
-
-
1Loss-
N4BP3-
-
-
-
1Loss-
NAA15-
-
-
-
3Gain-
NAA25-
-
-
-
1Loss-
NAA30-
-
-
-
1Loss-
NAA35-
-
-
-
3Gain-
NAA38-
-
-
-
1Loss-
NAA40-
-
-
-
1Loss-
NAA50-
-
-
-
4Gain-
NAA80-
-
-
-
1Loss-
NAALAD2-
-
-
-
1Loss-
NAALADL2-
-
-
-
5Amp-
NAB1-
-
-
-
3Gain-
NAB2-
-
-
-
1Loss-
NABP1-
-
-
-
3Gain-
NABP2-
-
-
-
1Loss-
NACA-
-
-
-
1Loss-
NADSYN1-
-
-
-
1Loss-
NAF1-
-
-
-
3Gain-
NALCN-
-
-
-
1Loss-
NANOS1-
-
-
-
1Loss-
NANS-
-
-
-
3Gain-
NAP1L1-
-
-
-
1Loss-
NAP1L4-
-
-
-
1Loss-
NAPRT-
-
-
-
4Gain-
NARF-
-
-
-
1Loss-
NARS2-
-
-
-
1Loss-
NAT1-
-
-
-
1Loss-
NAT10-
-
-
-
1Loss-
NAT2-
-
-
-
1Loss-
NATD1-
-
-
-
1Loss-
NAV2-
-
-
-
1Loss-
NAV3-
-
-
-
1Loss-
NAXE-
-
-
-
3Gain-
NBEAL1-
-
-
-
3Gain-
NBEAL2-
-
-
-
1Loss-
NBN-
-
-
-
4Gain-
NBPF10-
-
-
-
3Gain-
NBPF11-
-
-
-
3Gain-
NBPF12-
-
-
-
3Gain-
NBPF14-
-
-
-
3Gain-
NBPF15-
-
-
-
3Gain-
NBPF19-
-
-
-
3Gain-
NBPF20-
-
-
-
3Gain-
NBPF26-
-
-
-
1Loss-
NBPF4-
-
-
-
1Loss-
NBPF6-
-
-
-
1Loss-
NBPF9-
-
-
-
3Gain-
NCALD-
-
-
-
4Gain-
NCAM1-
-
-
-
1Loss-
NCAPD3-
-
-
-
1Loss-
NCBP1-
-
-
-
3Gain-
NCBP2-
-
-
-
7Amp-
NCBP2-AS2-
-
-
-
7Amp-
NCBP3-
-
-
-
1Loss-
NCEH1-
-
-
-
5Amp-
NCF2-
-
-
-
3Gain-
NCK1-
-
-
-
5Amp-
NCKAP1-
-
-
-
3Gain-
NCKAP1L-
-
-
-
1Loss-
NCKAP5L-
-
-
-
1Loss-
NCKIPSD-
-
-
-
1Loss-
NCL-
-
-
-
1Loss-
NCOA4-
-
-
-
1Loss-
NCOR1-
-
-
-
1Loss-
NCR2-
-
-
-
1Loss-
NCR3-
-
-
-
1Loss-
NCR3LG1-
-
-
-
1Loss-
NCSTN-
-
-
-
3Gain-
NDEL1-
-
-
-
1Loss-
NDNF-
-
-
-
3Gain-
NDRG1-
-
-
-
4Gain-
NDRG2-
-
-
-
1Loss-
NDST2-
-
-
-
1Loss-
NDST3-
-
-
-
3Gain-
NDST4-
-
-
-
3Gain-
NDUFA10-
-
-
-
1Loss-
NDUFA12-
-
-
-
1Loss-
NDUFA4L2-
-
-
-
1Loss-
NDUFAF3-
-
-
-
1Loss-
NDUFAF6-
-
-
-
4Gain-
NDUFB4-
-
-
-
5Amp-
NDUFB5-
-
-
-
5Amp-
NDUFB8-
-
-
-
1Loss-
NDUFB9-
-
-
-
4Gain-
NDUFC1-
-
-
-
3Gain-
NDUFC2-
-
-
-
1Loss-
NDUFC2-KCTD14-
-
-
-
1Loss-
NDUFS1-
-
-
-
3Gain-
NDUFS2-
-
-
-
3Gain-
NDUFS3-
-
-
-
1Loss-
NDUFS6-
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3Gain-
NDUFS8-
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-
1Loss-
NDUFV1-
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1Loss-
NECAB1-
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-
4Gain-
NECAB2-
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3Gain-
NECTIN1-
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1Loss-
NECTIN3-
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4Gain-
NECTIN4-
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-
3Gain-
NEDD1-
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1Loss-
NEDD8-
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1Loss-
NEDD8-MDP1-
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1Loss-
NEDD9-
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1Loss-
NEFL-
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1Loss-
NEFM-
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1Loss-
NEGR1-
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1Loss-
NEK1-
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-
3Gain-
NEK10-
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-
-
1Loss-
NEK11-
-
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-
5Amp-
NEK4-
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-
1Loss-
NEK9-
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1Loss-
NELFE-
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1Loss-
NELL1-
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1Loss-
NELL2-
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1Loss-
NEMP1-
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1Loss-
NEMP2-
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3Gain-
NEPRO-
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4Gain-
NES-
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3Gain-
NEU1-
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1Loss-
NEU2-
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1Loss-
NEU3-
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1Loss-
NEU4-
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1Loss-
NEURL1-
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NEURL1B-
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1Loss-
NEURL4-
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1Loss-
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3Gain-
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NEXN-
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1Loss-
NFE2-
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-
1Loss-
NFE2L2-
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3Gain-
NFIL3-
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3Gain-
NFKB2-
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1Loss-
NFKBIA-
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1Loss-
NFKBIE-
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1Loss-
NFKBIL1-
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1Loss-
NFKBIZ-
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4Gain-
NFRKB-
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1Loss-
NFYA-
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1Loss-
NFYB-
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1Loss-
NGB-
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1Loss-
NGDN-
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5Amp-
NGEF-
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1Loss-
NGF-
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1Loss-
NGLY1-
-
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-
1Loss-
NHEJ1-
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3Gain-
NHLH1-
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3Gain-
NHLH2-
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NHLRC1-
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1Loss-
NHLRC2-
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1Loss-
NHP2-
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1Loss-
NHSL1-
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1Loss-
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1Loss-
NID2-
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1Loss-
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3Gain-
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3Gain-
NIPAL2-
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4Gain-
NIPSNAP3A-
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3Gain-
NIPSNAP3B-
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3Gain-
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1Loss-
NIT1-
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3Gain-
NIT2-
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4Gain-
NKAIN3-
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3Gain-
NKAPD1-
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NKAPL-
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NKD2-
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3Gain-
NKIRAS1-
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NKTR-
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1Loss-
NKX1-2-
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1Loss-
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1Loss-
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1Loss-
NKX2-8-
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NKX6-2-
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1Loss-
NKX6-3-
-
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3Gain-
NLGN1-
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5Amp-
NLGN2-
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1Loss-
NLRP1-
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1Loss-
NLRP10-
-
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1Loss-
NLRP14-
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1Loss-
NLRP6-
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1Loss-
NLRX1-
-
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-
1Loss-
NMBR-
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-
-
1Loss-
NMD3-
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-
-
5Amp-
NME6-
-
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-
1Loss-
NME7-
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-
-
3Gain-
NME9-
-
-
-
5Amp-
NMNAT2-
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-
3Gain-
NMNAT3-
-
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-
5Amp-
NMRK1-
-
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-
3Gain-
NMUR1-
-
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-
1Loss-
NNMT-
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-
-
1Loss-
NOC3L-
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1Loss-
NOCT-
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3Gain-
NODAL-
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1Loss-
NOL7-
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1Loss-
NOL8-
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-
3Gain-
NOLC1-
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1Loss-
NOP16-
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-
1Loss-
NOP58-
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-
3Gain-
NOP9-
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1Loss-
NOS1AP-
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-
3Gain-
NOTCH2-
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1Loss-
NOTCH2NLA-
-
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-
3Gain-
NOTCH4-
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-
1Loss-
NOTUM-
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1Loss-
NOV-
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-
-
4Gain-
NOVA1-
-
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-
1Loss-
NOX4-
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-
1Loss-
NOXRED1-
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-
1Loss-
NPAS3-
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1Loss-
NPAT-
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1Loss-
NPB-
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-
1Loss-
NPBWR1-
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-
3Gain-
NPC2-
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-
1Loss-
NPFF-
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-
-
1Loss-
NPFFR1-
-
-
-
1Loss-
NPHP3-
-
-
-
5Amp-
NPHP3-ACAD11-
-
-
-
5Amp-
NPHS2-
-
-
-
3Gain-
NPL-
-
-
-
3Gain-
NPM1-
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-
1Loss-
NPM2-
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-
1Loss-
NPM3-
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1Loss-
NPPC-
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1Loss-
NPR1-
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3Gain-
NPRL2-
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1Loss-
NPS-
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1Loss-
NPY1R-
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-
3Gain-
NPY2R-
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-
3Gain-
NPY4R-
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1Loss-
NPY4R2-
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-
1Loss-
NPY5R-
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3Gain-
NQO2-
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1Loss-
NR1D1-
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-
3Gain-
NR1D2-
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-
1Loss-
NR1H3-
-
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-
1Loss-
NR1H4-
-
-
-
1Loss-
NR1I2-
-
-
-
5Amp-
NR1I3-
-
-
-
3Gain-
NR2C1-
-
-
-
1Loss-
NR2C2-
-
-
-
1Loss-
NR3C2-
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-
-
3Gain-
NR4A1-
-
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-
1Loss-
NR4A3-
-
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-
3Gain-
NRAP-
-
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-
1Loss-
NRAS-
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-
1Loss-
NRBF2-
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-
1Loss-
NRBP2-
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-
4Gain-
NRG1-
-
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-
1Loss-
NRG3-
-
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-
1Loss-
NRGN-
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-
1Loss-
NRIP3-
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-
1Loss-
NRL-
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-
1Loss-
NRM-
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-
1Loss-
NRN1-
-
-
-
1Loss-
NRP2-
-
-
-
3Gain-
NRROS-
-
-
-
7Amp-
NRSN1-
-
-
-
1Loss-
NRXN2-
-
-
-
1Loss-
NRXN3-
-
-
-
1Loss-
NSD1-
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-
1Loss-
NSD3-
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-
-
3Gain-
NSG2-
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-
1Loss-
NSMAF-
-
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-
3Gain-
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-
4Gain-
NSMCE4A-
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-
1Loss-
NSUN2-
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-
-
3Gain-
NSUN3-
-
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-
4Gain-
NT5C2-
-
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-
1Loss-
NT5DC2-
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-
1Loss-
NT5DC3-
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-
1Loss-
NT5M-
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1Loss-
NTM-
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1Loss-
NTN1-
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1Loss-
NTN4-
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NTNG1-
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NTRK1-
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NTRK2-
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-
3Gain-
NTS-
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NUAK1-
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NUBPL-
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NUCB2-
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NUDT1-
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-
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NUDT13-
-
-
-
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NUDT16-
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-
-
5Amp-
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-
-
-
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NUDT18-
-
-
-
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NUDT22-
-
-
-
1Loss-
NUDT3-
-
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-
1Loss-
NUDT4-
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-
1Loss-
NUDT4B-
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-
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NUDT6-
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-
3Gain-
NUDT7-
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-
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NUDT8-
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-
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NUF2-
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3Gain-
NUGGC-
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-
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NUMA1-
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-
1Loss-
NUMB-
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-
1Loss-
NUP107-
-
-
-
1Loss-
NUP153-
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-
-
1Loss-
NUP160-
-
-
-
1Loss-
NUP210-
-
-
-
1Loss-
NUP210L-
-
-
-
3Gain-
NUP35-
-
-
-
3Gain-
NUP37-
-
-
-
1Loss-
NUP43-
-
-
-
1Loss-
NUP88-
-
-
-
1Loss-
NUP98-
-
-
-
1Loss-
NUTM2F-
-
-
-
3Gain-
NUTM2G-
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-
-
3Gain-
NXF1-
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-
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NXN-
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-
-
1Loss-
NXNL2-
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-
-
3Gain-
NXPE1-
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-
-
1Loss-
NXPE2-
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-
1Loss-
NXPE3-
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-
-
4Gain-
NXPE4-
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-
-
1Loss-
NXPH4-
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-
-
1Loss-
NYAP2-
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-
-
3Gain-
NYNRIN-
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-
1Loss-
OAF-
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-
-
1Loss-
OARD1-
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-
-
1Loss-
OAS1-
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-
-
1Loss-
OAS2-
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-
-
1Loss-
OAS3-
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-
-
1Loss-
OAT-
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-
-
1Loss-
OAZ3-
-
-
-
3Gain-
OBSL1-
-
-
-
3Gain-
OC90-
-
-
-
4Gain-
OCLM-
-
-
-
3Gain-
OCM-
-
-
-
3Gain-
ODF1-
-
-
-
4Gain-
ODF2L-
-
-
-
1Loss-
ODF3-
-
-
-
1Loss-
ODR4-
-
-
-
3Gain-
OGA-
-
-
-
1Loss-
OGDHL-
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-
-
1Loss-
OGFOD3-
-
-
-
1Loss-
OGG1-
-
-
-
1Loss-
OGN-
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-
-
3Gain-
OIT3-
-
-
-
1Loss-
OLA1-
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-
-
3Gain-
OLFM3-
-
-
-
1Loss-
OLFML1-
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-
-
1Loss-
OLFML2B-
-
-
-
3Gain-
OLFML3-
-
-
-
1Loss-
OLIG3-
-
-
-
1Loss-
OMD-
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-
-
3Gain-
OMP-
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-
-
1Loss-
OOSP1-
-
-
-
1Loss-
OOSP2-
-
-
-
1Loss-
OPA1-
-
-
-
7Amp-
OPALIN-
-
-
-
1Loss-
OPCML-
-
-
-
1Loss-
OPLAH-
-
-
-
4Gain-
OPN4-
-
-
-
1Loss-
OPN5-
-
-
-
1Loss-
OPRK1-
-
-
-
3Gain-
OR10A2-
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-
-
1Loss-
OR10A3-
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-
-
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
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-
1Loss-
OR10A6-
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-
1Loss-
OR10A7-
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-
-
1Loss-
OR10AD1-
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-
1Loss-
OR10AG1-
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-
1Loss-
OR10C1-
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-
1Loss-
OR10D3-
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-
1Loss-
OR10G2-
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-
1Loss-
OR10G3-
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-
1Loss-
OR10G4-
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-
1Loss-
OR10G7-
-
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-
1Loss-
OR10G8-
-
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-
1Loss-
OR10G9-
-
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-
1Loss-
OR10J1-
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3Gain-
OR10J3-
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-
3Gain-
OR10J5-
-
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-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
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-
3Gain-
OR10P1-
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-
-
1Loss-
OR10R2-
-
-
-
3Gain-
OR10S1-
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-
-
1Loss-
OR10T2-
-
-
-
3Gain-
OR10V1-
-
-
-
1Loss-
OR10X1-
-
-
-
3Gain-
OR10Z1p.D89Gfs*23
Frame_Shift_Ins
INS
0.253
3Gain-
OR11A1-
-
-
-
1Loss-
OR11G2-
-
-
-
1Loss-
OR11H4-
-
-
-
1Loss-
OR11H6-
-
-
-
1Loss-
OR12D2-
-
-
-
1Loss-
OR12D3-
-
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-
1Loss-
OR13A1-
-
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-
1Loss-
OR13C2-
-
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-
3Gain-
OR13C3-
-
-
-
3Gain-
OR13C4-
-
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-
3Gain-
OR13C5-
-
-
-
3Gain-
OR13C8-
-
-
-
3Gain-
OR13C9-
-
-
-
3Gain-
OR13D1-
-
-
-
3Gain-
OR13F1-
-
-
-
3Gain-
OR14J1-
-
-
-
1Loss-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
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-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1G1-
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-
-
1Loss-
OR2A1-
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-
-
1Loss-
OR2A4-
-
-
-
1Loss-
OR2AG1-
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-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2AP1-
-
-
-
1Loss-
OR2AT4-
-
-
-
1Loss-
OR2B2-
-
-
-
1Loss-
OR2B3-
-
-
-
1Loss-
OR2B6-
-
-
-
1Loss-
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2H1-
-
-
-
1Loss-
OR2H2-
-
-
-
1Loss-
OR2J1-
-
-
-
1Loss-
OR2J2-
-
-
-
1Loss-
OR2J3-
-
-
-
1Loss-
OR2K2-
-
-
-
3Gain-
OR2V1-
-
-
-
1Loss-
OR2V2-
-
-
-
1Loss-
OR2W1-
-
-
-
1Loss-
OR2Y1-
-
-
-
1Loss-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4A15-
-
-
-
1Loss-
OR4A16-
-
-
-
1Loss-
OR4A47-
-
-
-
1Loss-
OR4A5-
-
-
-
1Loss-
OR4B1-
-
-
-
1Loss-
OR4C11-
-
-
-
1Loss-
OR4C12-
-
-
-
1Loss-
OR4C13-
-
-
-
1Loss-
OR4C15-
-
-
-
1Loss-
OR4C16-
-
-
-
1Loss-
OR4C3-
-
-
-
1Loss-
OR4C46-
-
-
-
1Loss-
OR4C5-
-
-
-
1Loss-
OR4C6-
-
-
-
1Loss-
OR4D10-
-
-
-
1Loss-
OR4D11-
-
-
-
1Loss-
OR4D5-
-
-
-
1Loss-
OR4D6-
-
-
-
1Loss-
OR4D9-
-
-
-
1Loss-
OR4E2-
-
-
-
1Loss-
OR4K1-
-
-
-
1Loss-
OR4K13-
-
-
-
1Loss-
OR4K14-
-
-
-
1Loss-
OR4K15-
-
-
-
1Loss-
OR4K17-
-
-
-
1Loss-
OR4K2-
-
-
-
1Loss-
OR4K5-
-
-
-
1Loss-
OR4L1-
-
-
-
1Loss-
OR4M1-
-
-
-
1Loss-
OR4N2-
-
-
-
1Loss-
OR4N5-
-
-
-
1Loss-
OR4P4-
-
-
-
1Loss-
OR4Q2-
-
-
-
1Loss-
OR4Q3-
-
-
-
1Loss-
OR4S1-
-
-
-
1Loss-
OR4S2-
-
-
-
1Loss-
OR4X1-
-
-
-
1Loss-
OR4X2-
-
-
-
1Loss-
OR51A2-
-
-
-
1Loss-
OR51A4-
-
-
-
1Loss-
OR51A7-
-
-
-
1Loss-
OR51B2-
-
-
-
1Loss-
OR51B4-
-
-
-
1Loss-
OR51B5-
-
-
-
1Loss-
OR51B6-
-
-
-
1Loss-
OR51C1P-
-
-
-
1Loss-
OR51D1-
-
-
-
1Loss-
OR51E1-
-
-
-
1Loss-
OR51E2-
-
-
-
1Loss-
OR51F1-
-
-
-
1Loss-
OR51F2-
-
-
-
1Loss-
OR51G1-
-
-
-
1Loss-
OR51G2-
-
-
-
1Loss-
OR51I1-
-
-
-
1Loss-
OR51I2-
-
-
-
1Loss-
OR51L1-
-
-
-
1Loss-
OR51M1-
-
-
-
1Loss-
OR51Q1-
-
-
-
1Loss-
OR51S1-
-
-
-
1Loss-
OR51T1-
-
-
-
1Loss-
OR51V1-
-
-
-
1Loss-
OR52A1-
-
-
-
1Loss-
OR52A5-
-
-
-
1Loss-
OR52B2-
-
-
-
1Loss-
OR52B4-
-
-
-
1Loss-
OR52B6-
-
-
-
1Loss-
OR52D1-
-
-
-
1Loss-
OR52E2-
-
-
-
1Loss-
OR52E4-
-
-
-
1Loss-
OR52E5-
-
-
-
1Loss-
OR52E6-
-
-
-
1Loss-
OR52E8-
-
-
-
1Loss-
OR52H1-
-
-
-
1Loss-
OR52I1-
-
-
-
1Loss-
OR52I2-
-
-
-
1Loss-
OR52J3-
-
-
-
1Loss-
OR52K1-
-
-
-
1Loss-
OR52K2-
-
-
-
1Loss-
OR52L1-
-
-
-
1Loss-
OR52M1-
-
-
-
1Loss-
OR52N1-
-
-
-
1Loss-
OR52N2-
-
-
-
1Loss-
OR52N4-
-
-
-
1Loss-
OR52N5-
-
-
-
1Loss-
OR52R1-
-
-
-
1Loss-
OR52W1-
-
-
-
1Loss-
OR56A1-
-
-
-
1Loss-
OR56A3-
-
-
-
1Loss-
OR56A4-
-
-
-
1Loss-
OR56A5-
-
-
-
1Loss-
OR56B1-
-
-
-
1Loss-
OR56B4-
-
-
-
1Loss-
OR5A1-
-
-
-
1Loss-
OR5A2-
-
-
-
1Loss-
OR5AC2-
-
-
-
5Amp-
OR5AN1-
-
-
-
1Loss-
OR5AS1-
-
-
-
1Loss-
OR5AU1-
-
-
-
1Loss-
OR5BS1P-
-
-
-
1Loss-
OR5D13-
-
-
-
1Loss-
OR5D14-
-
-
-
1Loss-
OR5D16-
-
-
-
1Loss-
OR5D18-
-
-
-
1Loss-
OR5F1-
-
-
-
1Loss-
OR5H1-
-
-
-
5Amp-
OR5H14-
-
-
-
5Amp-
OR5H15-
-
-
-
5Amp-
OR5H2-
-
-
-
5Amp-
OR5H6-
-
-
-
5Amp-
OR5I1-
-
-
-
1Loss-
OR5J2-
-
-
-
1Loss-
OR5K1-
-
-
-
4Gain-
OR5K2-
-
-
-
4Gain-
OR5K3-
-
-
-
5Amp-
OR5K4-
-
-
-
5Amp-
OR5L1-
-
-
-
1Loss-
OR5L2-
-
-
-
1Loss-
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR5T2-
-
-
-
1Loss-
OR5T3-
-
-
-
1Loss-
OR5V1-
-
-
-
1Loss-
OR5W2-
-
-
-
1Loss-
OR6A2-
-
-
-
1Loss-
OR6B2-
-
-
-
1Loss-
OR6B3-
-
-
-
1Loss-
OR6C1-
-
-
-
1Loss-
OR6C2-
-
-
-
1Loss-
OR6C3-
-
-
-
1Loss-
OR6C4-
-
-
-
1Loss-
OR6C6-
-
-
-
1Loss-
OR6C65-
-
-
-
1Loss-
OR6C68-
-
-
-
1Loss-
OR6C70-
-
-
-
1Loss-
OR6C74-
-
-
-
1Loss-
OR6C75-
-
-
-
1Loss-
OR6C76-
-
-
-
1Loss-
OR6J1-
-
-
-
3Gain-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6M1-
-
-
-
1Loss-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6S1-
-
-
-
1Loss-
OR6T1-
-
-
-
1Loss-
OR6X1-
-
-
-
1Loss-
OR6Y1-
-
-
-
3Gain-
OR8A1-
-
-
-
1Loss-
OR8B12-
-
-
-
1Loss-
OR8B2-
-
-
-
1Loss-
OR8B3-
-
-
-
1Loss-
OR8B4-
-
-
-
1Loss-
OR8B8-
-
-
-
1Loss-
OR8D1-
-
-
-
1Loss-
OR8D2-
-
-
-
1Loss-
OR8D4-
-
-
-
1Loss-
OR8G1-
-
-
-
1Loss-
OR8G5-
-
-
-
1Loss-
OR8H2-
-
-
-
1Loss-
OR8H3-
-
-
-
1Loss-
OR8I2-
-
-
-
1Loss-
OR8J3-
-
-
-
1Loss-
OR8K5-
-
-
-
1Loss-
OR8S1-
-
-
-
1Loss-
OR9K2-
-
-
-
1Loss-
ORC2-
-
-
-
3Gain-
ORM1-
-
-
-
3Gain-
ORM2-
-
-
-
3Gain-
ORMDL1-
-
-
-
3Gain-
ORMDL2-
-
-
-
1Loss-
OS9-
-
-
-
1Loss-
OSBP-
-
-
-
1Loss-
OSBPL10-
-
-
-
1Loss-
OSBPL11-
-
-
-
5Amp-
OSBPL5-
-
-
-
1Loss-
OSBPL6-
-
-
-
3Gain-
OSBPL8-
-
-
-
1Loss-
OSGEP-
-
-
-
1Loss-
OSGEPL1-
-
-
-
3Gain-
OSGIN1-
-
-
-
3Gain-
OSGIN2-
-
-
-
4Gain-
OSR2-
-
-
-
4Gain-
OSTF1-
-
-
-
3Gain-
OSTN-
-
-
-
7Amp-
OTOG-
-
-
-
1Loss-
OTOGL-
-
-
-
1Loss-
OTOL1-
-
-
-
5Amp-
OTOS-
-
-
-
1Loss-
OTUB1-
-
-
-
1Loss-
OTUD4-
-
-
-
3Gain-
OTUD6B-
-
-
-
4Gain-
OTUD7B-
-
-
-
3Gain-
OTULIN-
-
-
-
3Gain-
OTULINL-
-
-
-
3Gain-
OTX2-
-
-
-
1Loss-
OVCA2-
-
-
-
1Loss-
OVCH2-
-
-
-
1Loss-
OVGP1-
-
-
-
1Loss-
OXA1L-
-
-
-
3Gain-
OXGR1-
-
-
-
1Loss-
OXNAD1-
-
-
-
1Loss-
OXR1-
-
-
-
4Gain-
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1LossOXSR1--MMS19
OXTR-
-
-
-
1Loss-
P2RX1-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RY1-
-
-
-
5Amp-
P2RY12-
-
-
-
5Amp-
P2RY13-
-
-
-
5Amp-
P2RY14-
-
-
-
5Amp-
P2RY2-
-
-
-
1Loss-
P2RY6-
-
-
-
1Loss-
P3H2-
-
-
-
7Amp-
P4HA1-
-
-
-
1Loss-
P4HA3-
-
-
-
1Loss-
P4HB-
-
-
-
1Loss-
P4HTM-
-
-
-
1Loss-
PA2G4-
-
-
-
1Loss-
PAAF1-
-
-
-
1Loss-
PABPC1-
-
-
-
4Gain-
PABPC4L-
-
-
-
3Gain-
PABPN1-
-
-
-
5Amp-
PABPN1L-
-
-
-
1Loss-
PACSIN1-
-
-
-
1Loss-
PACSIN3-
-
-
-
1Loss-
PAFAH1B1-
-
-
-
1Loss-
PAFAH1B2-
-
-
-
1Loss-
PAG1-
-
-
-
3Gain-
PAH-
-
-
-
1Loss-
PAK1-
-
-
-
1Loss-
PAK1IP1-
-
-
-
1Loss-
PAK2-
-
-
-
7Amp-
PALD1-
-
-
-
1Loss-
PALLD-
-
-
-
3Gain-
PALM2-
-
-
-
3Gain-
PALM2-AKAP2-
-
-
-
3Gain-
PALMD-
-
-
-
1Loss-
PAMR1-
-
-
-
1Loss-
PAN2-
-
-
-
1Loss-
PANK1-
-
-
-
1Loss-
PANK3-
-
-
-
1Loss-
PANX1-
-
-
-
9Amp-
PANX3-
-
-
-
1Loss-
PAOX-
-
-
-
1Loss-
PAPLN-
-
-
-
1Loss-
PAPOLB-
-
-
-
3Gain-
PAPPA2-
-
-
-
3Gain-
PAPSS2-
-
-
-
1Loss-
PAQR6-
-
-
-
3Gain-
PAQR8-
-
-
-
1Loss-
PAQR9-
-
-
-
5Amp-
PARD3B-
-
-
-
3Gain-
PARG-
-
-
-
1Loss-
PARL-
-
-
-
7Amp-
PARP10-
-
-
-
4Gain-
PARP14-
-
-
-
5Amp-
PARP15-
-
-
-
5Amp-
PARP2-
-
-
-
1Loss-
PARP3-
-
-
-
1Loss-
PARP9-
-
-
-
5Amp-
PARPBP-
-
-
-
1Loss-
PARVA-
-
-
-
1Loss-
PASK-
-
-
-
1Loss-
PATE1-
-
-
-
1Loss-
PATE2-
-
-
-
1Loss-
PATE3-
-
-
-
1Loss-
PATE4-
-
-
-
1Loss-
PATL1-
-
-
-
1Loss-
PAWR-
-
-
-
1Loss-
PAX2-
-
-
-
1Loss-
PAX3-
-
-
-
3Gain-
PAX6-
-
-
-
1Loss-
PAX9-
-
-
-
1Loss-
PBK-
-
-
-
1Loss-
PBLD-
-
-
-
1Loss-
PBOV1-
-
-
-
1Loss-
PBRM1-
-
-
-
1Loss-
PBX1-
-
-
-
3Gain-
PBX2-
-
-
-
1Loss-
PBXIP1-
-
-
-
3Gain-
PCBD1-
-
-
-
1Loss-
PCBP2-
-
-
-
1Loss-
PCBP4-
-
-
-
1Loss-
PCCA-
-
-
-
1Loss-
PCCB-
-
-
-
5Amp-
PCDH10-
-
-
-
3Gain-
PCDH15-
-
-
-
1Loss-
PCDH18-
-
-
-
3Gain-
PCED1B-
-
-
-
1Loss-
PCF11-
-
-
-
1Loss-
PCGF5-
-
-
-
1Loss-
PCGF6-
-
-
-
1Loss-
PCK2-
-
-
-
1Loss-
PCM1-
-
-
-
1Loss-
PCMT1-
-
-
-
1Loss-
PCMTD1-
-
-
-
3Gain-
PCNP-
-
-
-
4Gain-
PCNX1-
-
-
-
1Loss-
PCNX4-
-
-
-
1Loss-
PCOLCE2-
-
-
-
5Amp-
PCP4L1-
-
-
-
3Gain-
PCSK5-
-
-
-
3Gain-
PCSK7-
-
-
-
1Loss-
PCYT1A-
-
-
-
7Amp-
PCYT2-
-
-
-
1Loss-
PDC-
-
-
-
3Gain-
PDCD1-
-
-
-
1Loss-
PDCD10-
-
-
-
5Amp-
PDCD11-
-
-
-
1Loss-
PDCD1LG2-
-
-
-
1Loss-
PDCD4-
-
-
-
1Loss-
PDCD6-
-
-
-
3Gain-
PDCD6IP-
-
-
-
1Loss-
PDE11A-
-
-
-
3Gain-
PDE12-
-
-
-
1Loss-
PDE1A-
-
-
-
3Gain-
PDE1B-
-
-
-
1Loss-
PDE2A-
-
-
-
1Loss-
PDE3B-
-
-
-
1Loss-
PDE4B-
-
-
-
1Loss-
PDE4DIP-
-
-
-
3Gain-
PDE5A-
-
-
-
3Gain-
PDE6C-
-
-
-
1Loss-
PDE6D-
-
-
-
1Loss-
PDE7A-
-
-
-
3Gain-
PDE7B-
-
-
-
1Loss-
PDGFA-
-
-
-
1Loss-
PDGFC-
-
-
-
3Gain-
PDGFD-
-
-
-
1Loss-
PDGFRL-
-
-
-
1Loss-
PDHB-
-
-
-
1Loss-
PDHX-
-
-
-
1Loss-
PDIA5-
-
-
-
5Amp-
PDK1-
-
-
-
3Gain-
PDLIM1-
-
-
-
1Loss-
PDLIM2-
-
-
-
1Loss-
PDLIM7-
-
-
-
1Loss-
PDP1-
-
-
-
4Gain-
PDZD3-
-
-
-
1Loss-
PDZD7-
-
-
-
1Loss-
PDZD8-
-
-
-
1Loss-
PDZK1-
-
-
-
3Gain-
PDZRN3-
-
-
-
1Loss-
PDZRN4-
-
-
-
1Loss-
PEA15-
-
-
-
3Gain-
PEAR1-
-
-
-
3Gain-
PEBP4-
-
-
-
1Loss-
PECR-
-
-
-
3Gain-
PELI2-
-
-
-
1Loss-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PENK-
-
-
-
3Gain-
PER1-
-
-
-
1Loss-
PER2-
-
-
-
1Loss-
PERP-
-
-
-
1Loss-
PEX11B-
-
-
-
3Gain-
PEX16-
-
-
-
1Loss-
PEX19-
-
-
-
3Gain-
PEX2-
-
-
-
3Gain-
PEX3-
-
-
-
1Loss-
PEX5L-
-
-
-
7Amp-
PEX6-
-
-
-
1Loss-
PEX7-
-
-
-
1Loss-
PFDN2-
-
-
-
3Gain-
PFDN5-
-
-
-
1Loss-
PFDN6-
-
-
-
1Loss-
PFKFB4-
-
-
-
1Loss-
PFKM-
-
-
-
1Loss-
PFN1-
-
-
-
1Loss-
PFN2-
-
-
-
5Amp-
PFN3-
-
-
-
1Loss-
PGA3-
-
-
-
1Loss-
PGA4-
-
-
-
1Loss-
PGA5-
-
-
-
1Loss-
PGAM1-
-
-
-
1Loss-
PGAP1-
-
-
-
3Gain-
PGAP2-
-
-
-
1Loss-
PGAP3-
-
-
-
3Gain-
PGBD1-
-
-
-
1Loss-
PGC-
-
-
-
1Loss-
PGF-
-
-
-
1Loss-
PGGHG-
-
-
-
1Loss-
PGK2-
-
-
-
1Loss-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM2L1-
-
-
-
1Loss-
PGM5-
-
-
-
3Gain-
PGP-
-
-
-
3Gain-
PGR-
-
-
-
12Amp-
PGRMC2-
-
-
-
3Gain-
PHACTR1-
-
-
-
1Loss-
PHACTR2-
-
-
-
1Loss-
PHC3-
-
-
-
5Amp-
PHETA1-
-
-
-
1Loss-
PHF1-
-
-
-
1Loss-
PHF2-
-
-
-
3Gain-
PHF20L1-
-
-
-
4Gain-
PHF21A-
-
-
-
1Loss-
PHF23-
-
-
-
1Loss-
PHF7-
-
-
-
1Loss-
PHGDH-
-
-
-
1Loss-
PHLDA1-
-
-
-
1Loss-
PHLDA2-
-
-
-
1Loss-
PHLDB1-
-
-
-
1Loss-
PHLDB2-
-
-
-
4Gain-
PHOX2A-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PHTF1-
-
-
-
1Loss-
PHYHIP-
-
-
-
1Loss-
PHYHIPL-
-
-
-
1Loss-
PHYKPL-
-
-
-
1Loss-
PI15-
-
-
-
3Gain-
PI16-
-
-
-
1Loss-
PI4K2A-
-
-
-
1Loss-
PI4KB-
-
-
-
3Gain-
PIAS3-
-
-
-
3Gain-
PICALM-
-
-
-
1Loss-
PID1-
-
-
-
1Loss-
PIDD1-
-
-
-
1Loss-
PIEZO1-
-
-
-
1Loss-
PIFO-
-
-
-
1Loss-
PIGC-
-
-
-
3Gain-
PIGH-
-
-
-
1Loss-
PIGK-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGM-
-
-
-
3Gain-
PIGX-
-
-
-
7Amp-
PIGZ-
-
-
-
7Amp-
PIH1D2-
-
-
-
1Loss-
PIK3AP1-
-
-
-
1Loss-
PIK3C2A-
-
-
-
1Loss-
PIK3CA-
-
-
-
5Amp-
PIK3CB-
-
-
-
5Amp-
PIK3R4-
-
-
-
5Amp-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIKFYVE-
-
-
-
3Gain-
PIM1-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PIP4K2C-
-
-
-
1Loss-
PIP4P1-
-
-
-
1Loss-
PIP4P2-
-
-
-
4Gain-
PIP5K1A-
-
-
-
3Gain-
PIP5K1B-
-
-
-
3Gain-
PIRT-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNM1-
-
-
-
1Loss-
PITPNM3-
-
-
-
1Loss-
PITX3-
-
-
-
1Loss-
PIWIL2-
-
-
-
1Loss-
PIWIL4-
-
-
-
9Amp-
PJVK-
-
-
-
3Gain-
PKD2L1-
-
-
-
1Loss-
PKHD1-
-
-
-
1Loss-
PKHD1L1-
-
-
-
4Gain-
PKIA-
-
-
-
3Gain-
PKLR-
-
-
-
3Gain-
PKN2-
-
-
-
1Loss-
PKNOX2-
-
-
-
1Loss-
PKP3-
-
-
-
1Loss-
PLA1A-
-
-
-
5Amp-
PLA2G12B-
-
-
-
1Loss-
PLA2G16-
-
-
-
1Loss-
PLA2G4A-
-
-
-
3Gain-
PLA2G7-
-
-
-
1Loss-
PLAC9-
-
-
-
1Loss-
PLAG1-
-
-
-
3Gain-
PLAGL1-
-
-
-
1Loss-
PLAT-
-
-
-
3Gain-
PLAU-
-
-
-
1Loss-
PLBD2-
-
-
-
1Loss-
PLCB3-
-
-
-
1Loss-
PLCD1-
-
-
-
1Loss-
PLCD4-
-
-
-
3Gain-
PLCE1-
-
-
-
1Loss-
PLCG2-
-
-
-
3Gain-
PLCH1-
-
-
-
5Amp-
PLCL1-
-
-
-
3Gain-
PLCL2-
-
-
-
1Loss-
PLCXD2-
-
-
-
4Gain-
PLCZ1-
-
-
-
1Loss-
PLD1-
-
-
-
5Amp-
PLD2-
-
-
-
1Loss-
PLD6-
-
-
-
1Loss-
PLEC-
-
-
-
4Gain-
PLEK2-
-
-
-
1Loss-
PLEKHA1-
-
-
-
1Loss-
PLEKHA2-
-
-
-
3Gain-
PLEKHA3-
-
-
-
3Gain-
PLEKHA5-
-
-
-
1Loss-
PLEKHA7-
-
-
-
1Loss-
PLEKHB1-
-
-
-
1Loss-
PLEKHD1-
-
-
-
1Loss-
PLEKHF2-
-
-
-
4Gain-
PLEKHG1-
-
-
-
1Loss-
PLEKHG3-
-
-
-
1Loss-
PLEKHG4B-
-
-
-
3Gain-
PLEKHG7-
-
-
-
1Loss-
PLEKHH1-
-
-
-
1Loss-
PLEKHM3-
-
-
-
3Gain-
PLEKHO1-
-
-
-
3Gain-
PLEKHS1-
-
-
-
1Loss-
PLET1-
-
-
-
1Loss-
PLGRKT-
-
-
-
1Loss-
PLK4-
-
-
-
3Gain-
PLOD2-
-
-
-
5Amp-
PLPBP-
-
-
-
3Gain-
PLPP4-
-
-
-
1Loss-
PLPP5-
-
-
-
3Gain-
PLPP6-
-
-
-
1Loss-
PLPPR1-
-
-
-
3Gain-
PLPPR4-
-
-
-
1Loss-
PLPPR5-
-
-
-
1Loss-
PLRG1-
-
-
-
3Gain-
PLS1-
-
-
-
5Amp-
PLSCR1-
-
-
-
5Amp-
PLSCR2-
-
-
-
5Amp-
PLSCR3-
-
-
-
1Loss-
PLSCR4-
-
-
-
5Amp-
PLSCR5-
-
-
-
5Amp-
PLXNA1-
-
-
-
5Amp-
PLXNB1-
-
-
-
1Loss-
PLXNC1-
-
-
-
1Loss-
PLXND1-
-
-
-
5Amp-
PMCH-
-
-
-
1Loss-
PMEL-
-
-
-
1Loss-
PMF1-
-
-
-
3Gain-
PMF1-BGLAP-
-
-
-
3Gain-
PMP2-
-
-
-
3Gain-
PMP22-
-
-
-
1Loss-
PMS1-
-
-
-
3Gain-
PMS2-
-
-
-
3Gain-
PMVK-
-
-
-
3Gain-
PNKD-
-
-
-
3Gain-
PNLIP-
-
-
-
1Loss-
PNLIPRP1-
-
-
-
1Loss-
PNLIPRP2-
-
-
-
1Loss-
PNLIPRP3-
-
-
-
1Loss-
PNMA1-
-
-
-
1Loss-
PNMA2-
-
-
-
1Loss-
PNMT-
-
-
-
3Gain-
PNN-
-
-
-
1Loss-
PNOC-
-
-
-
1Loss-
PNP-
-
-
-
1Loss-
PNPLA1-
-
-
-
1Loss-
PNPLA2-
-
-
-
1Loss-
PNPLA6p.R822Q
Missense
SNP
0.339
2--
POC1A-
-
-
-
1Loss-
POC1B-
-
-
-
1Loss-
POC1B-GALNT4-
-
-
-
1Loss-
PODXL2-
-
-
-
5Amp-
POGK-
-
-
-
3Gain-
POGLUT1-
-
-
-
5Amp-
POGZ-
-
-
-
3Gain-
POLB-
-
-
-
3Gain-
POLD3-
-
-
-
1Loss-
POLD4-
-
-
-
1Loss-
POLE3-
-
-
-
3Gain-
POLH-
-
-
-
1Loss-
POLL-
-
-
-
1Loss-
POLQ-
-
-
-
5Amp-
POLR1C-
-
-
-
1Loss-
POLR2A-
-
-
-
1Loss-
POLR2G-
-
-
-
1Loss-
POLR2H-
-
-
-
7Amp-
POLR2K-
-
-
-
4Gain-
POLR2L-
-
-
-
1Loss-
POLR3A-
-
-
-
1Loss-
POLR3B-
-
-
-
1Loss-
POLR3C-
-
-
-
3Gain-
POLR3D-
-
-
-
1Loss-
POLR3GL-
-
-
-
3Gain-
POM121L2-
-
-
-
1Loss-
POMGNT2-
-
-
-
1Loss-
POMK-
-
-
-
3Gain-
POMT2-
-
-
-
1Loss-
POP1-
-
-
-
4Gain-
POPDC2-
-
-
-
5Amp-
POTED-
-
-
-
1Loss-
POTEEp.R877H
Missense
SNP
0.178
2--
POTEG-
-
-
-
1Loss-
POTEM-
-
-
-
1Loss-
POU1F1-
-
-
-
1Loss-
POU2AF1-
-
-
-
1Loss-
POU2F1-
-
-
-
3Gain-
POU2F3-
-
-
-
1Loss-
POU4F2-
-
-
-
3Gain-
POU5F1-
-
-
-
1Loss-
POU5F1B-
-
-
-
4Gain-
POU6F1-
-
-
-
1Loss-
PP2D1-
-
-
-
1Loss-
PPA1-
-
-
-
1Loss-
PPARD-
-
-
-
1Loss-
PPARG-
-
-
-
1Loss-
PPDPFL-
-
-
-
3Gain-
PPFIA1-
-
-
-
15Amp-
PPFIA2-
-
-
-
1Loss-
PPFIBP2-
-
-
-
1Loss-
PPHLN1-
-
-
-
1Loss-
PPID-
-
-
-
3Gain-
PPIF-
-
-
-
1Loss-
PPIL1-
-
-
-
1Loss-
PPIL3-
-
-
-
3Gain-
PPIL4-
-
-
-
1Loss-
PPM1A-
-
-
-
1Loss-
PPM1H-
-
-
-
1Loss-
PPM1J-
-
-
-
1Loss-
PPM1L-
-
-
-
5Amp-
PPM1M-
-
-
-
1Loss-
PPME1-
-
-
-
1Loss-
PPOX-
-
-
-
3Gain-
PPP1CA-
-
-
-
1Loss-
PPP1CC-
-
-
-
1Loss-
PPP1R10-
-
-
-
1Loss-
PPP1R11-
-
-
-
1Loss-
PPP1R12A-
-
-
-
1Loss-
PPP1R14B-
-
-
-
1Loss-
PPP1R14C-
-
-
-
1Loss-
PPP1R16A-
-
-
-
4Gain-
PPP1R18-
-
-
-
1Loss-
PPP1R1A-
-
-
-
1Loss-
PPP1R1C-
-
-
-
3Gain-
PPP1R2-
-
-
-
7Amp-
PPP1R27-
-
-
-
1Loss-
PPP1R32-
-
-
-
1Loss-
PPP1R36-
-
-
-
1Loss-
PPP1R3C-
-
-
-
1Loss-
PPP1R3E-
-
-
-
5Amp-
PPP1R3G-
-
-
-
1Loss-
PPP1R42-
-
-
-
3Gain-
PPP1R7-
-
-
-
1Loss-
PPP2CB-
-
-
-
1Loss-
PPP2R1B-
-
-
-
1Loss-
PPP2R2A-
-
-
-
1Loss-
PPP2R2D-
-
-
-
1Loss-
PPP2R3A-
-
-
-
5Amp-
PPP2R3C-
-
-
-
1Loss-
PPP2R5D-
-
-
-
1Loss-
PPP2R5E-
-
-
-
1Loss-
PPP3CB-
-
-
-
1Loss-
PPP3CC-
-
-
-
1Loss-
PPP3R2-
-
-
-
3Gain-
PPP4R2-
-
-
-
1Loss-
PPP6R3-
-
-
-
1Loss-
PPRC1-
-
-
-
1Loss-
PPT2-
-
-
-
1Loss-
PPT2-EGFL8-
-
-
-
1Loss-
PPTC7-
-
-
-
1Loss-
PQLC2L-
-
-
-
5Amp-
PRAP1-
-
-
-
1Loss-
PRCC-
-
-
-
3Gain-
PRCP-
-
-
-
1Loss-
PRDM10-
-
-
-
1Loss-
PRDM11-
-
-
-
1Loss-
PRDM4-
-
-
-
1Loss-
PRDM5-
-
-
-
3Gain-
PRDM9-
-
-
-
3Gain-
PRDX3-
-
-
-
1Loss-
PRDX5-
-
-
-
1Loss-
PRDX6-
-
-
-
3Gain-
PRELID1-
-
-
-
1Loss-
PREX2-
-
-
-
3Gain-
PRF1-
-
-
-
1Loss-
PRG4-
-
-
-
3Gain-
PRICKLE1-
-
-
-
1Loss-
PRICKLE2-
-
-
-
1Loss-
PRICKLE4-
-
-
-
1Loss-
PRIM1-
-
-
-
1Loss-
PRKAB2-
-
-
-
3Gain-
PRKACB-
-
-
-
1Loss-
PRKACG-
-
-
-
3Gain-
PRKAG1-
-
-
-
1Loss-
PRKAG3-
-
-
-
3Gain-
PRKAR1B-
-
-
-
1Loss-
PRKAR2A-
-
-
-
1Loss-
PRKCD-
-
-
-
1Loss-
PRKCH-
-
-
-
1Loss-
PRKCI-
-
-
-
5Amp-
PRKD1-
-
-
-
1Loss-
PRKDC-
-
-
-
3Gain-
PRKG1-
-
-
-
1Loss-
PRKRA-
-
-
-
3Gain-
PRL-
-
-
-
1Loss-
PRLH-
-
-
-
1Loss-
PRLHR-
-
-
-
1Loss-
PRMT3-
-
-
-
1Loss-
PRMT5-
-
-
-
5Amp-
PRMT6-
-
-
-
1Loss-
PRMT9-
-
-
-
3Gain-
PROK1-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PROP1-
-
-
-
1Loss-
PROS1-
-
-
-
4Gain-
PROX2-
-
-
-
1Loss-
PRPF19-
-
-
-
1Loss-
PRPF3-
-
-
-
3Gain-
PRPF38B-
-
-
-
1Loss-
PRPF39-
-
-
-
1Loss-
PRPF4-
-
-
-
3Gain-
PRPF40B-
-
-
-
1Loss-
PRPF4B-
-
-
-
1Loss-
PRPF8-
-
-
-
1Loss-
PRPH-
-
-
-
1Loss-
PRPH2-
-
-
-
1Loss-
PRPSAP2-
-
-
-
1Loss-
PRR13-
-
-
-
1Loss-
PRR23A-
-
-
-
5Amp-
PRR23B-
-
-
-
5Amp-
PRR23C-
-
-
-
5Amp-
PRR3-
-
-
-
1Loss-
PRR33-
-
-
-
1Loss-
PRR5L-
-
-
-
1Loss-
PRR7-
-
-
-
1Loss-
PRR9-
-
-
-
3Gain-
PRRC2A-
-
-
-
1Loss-
PRRC2C-
-
-
-
3Gain-
PRRG4-
-
-
-
1Loss-
PRRT1-
-
-
-
1Loss-
PRRT3-
-
-
-
1Loss-
PRRX1-
-
-
-
3Gain-
PRSS12-
-
-
-
3Gain-
PRSS16-
-
-
-
1Loss-
PRSS23-
-
-
-
1Loss-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS48-
-
-
-
3Gain-
PRSS50-
-
-
-
1Loss-
PRSS56-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PRUNE2-
-
-
-
3Gain-
PRXL2A-
-
-
-
1Loss-
PRXL2C-
-
-
-
3Gain-
PSAP-
-
-
-
1Loss-
PSAT1-
-
-
-
3Gain-
PSCA-
-
-
-
4Gain-
PSD-
-
-
-
1Loss-
PSD3-
-
-
-
1Loss-
PSEN1-
-
-
-
1Loss-
PSKH2-
-
-
-
4Gain-
PSMA1-
-
-
-
1Loss-
PSMA3-
-
-
-
1Loss-
PSMA5-
-
-
-
1Loss-
PSMA6-
-
-
-
1Loss-
PSMB11-
-
-
-
5Amp-
PSMB4-
-
-
-
3Gain-
PSMB5-
-
-
-
5Amp-
PSMB6-
-
-
-
1Loss-
PSMB8-
-
-
-
1Loss-
PSMB9-
-
-
-
1Loss-
PSMC3-
-
-
-
1Loss-
PSMC6-
-
-
-
1Loss-
PSMD1-
-
-
-
1Loss-
PSMD13-
-
-
-
1Loss-
PSMD2-
-
-
-
7Amp-
PSMD3-
-
-
-
3Gain-
PSMD4-
-
-
-
3Gain-
PSMD6-
-
-
-
1Loss-
PSME1-
-
-
-
1Loss-
PSME2-
-
-
-
1Loss-
PSMG3-
-
-
-
1Loss-
PSMG4-
-
-
-
1Loss-
PSORS1C1-
-
-
-
1Loss-
PSORS1C2-
-
-
-
1Loss-
PSRC1-
-
-
-
1Loss-
PSTK-
-
-
-
1Loss-
PTAR1-
-
-
-
3Gain-
PTBP2-
-
-
-
1Loss-
PTBP3-
-
-
-
3Gain-
PTCH1-
-
-
-
3Gain-
PTCHD4-
-
-
-
1Loss-
PTCRA-
-
-
-
1Loss-
PTDSS1-
-
-
-
4Gain-
PTDSS2-
-
-
-
1Loss-
PTEN-
-
-
-
1Loss-
PTGDR-
-
-
-
1Loss-
PTGDR2-
-
-
-
1Loss-
PTGER2-
-
-
-
1Loss-
PTGER3-
-
-
-
1Loss-
PTGES3-
-
-
-
1Loss-
PTGFR-
-
-
-
1Loss-
PTGFRN-
-
-
-
1Loss-
PTGR1-
-
-
-
3Gain-
PTGR2-
-
-
-
1Loss-
PTGS2-
-
-
-
3Gain-
PTH-
-
-
-
1Loss-
PTH1R-
-
-
-
1Loss-
PTH2R-
-
-
-
3Gain-
PTK2-
-
-
-
4Gain-
PTK2B-
-
-
-
1Loss-
PTK7-
-
-
-
1Loss-
PTMA-
-
-
-
1Loss-
PTP4A3-
-
-
-
4Gain-
PTPDC1-
-
-
-
3Gain-
PTPMT1-
-
-
-
1Loss-
PTPN11-
-
-
-
1Loss-
PTPN20-
-
-
-
1Loss-
PTPN22-
-
-
-
1Loss-
PTPN23-
-
-
-
1Loss-
PTPN3-
-
-
-
3Gain-
PTPN5-
-
-
-
1Loss-
PTPRB-
-
-
-
1Loss-
PTPRCAP-
-
-
-
1Loss-
PTPRD-
-
-
-
1Loss-
PTPRE-
-
-
-
1Loss-
PTPRG-
-
-
-
1Loss-
PTPRJ-
-
-
-
1Loss-
PTPRN-
-
-
-
3Gain-
PTPRQ-
-
-
-
1Loss-
PTPRR-
-
-
-
1Loss-
PTS-
-
-
-
1Loss-
PTTG1-
-
-
-
1Loss-
PTX3-
-
-
-
5Amp-
PUF60-
-
-
-
4Gain-
PUM3-
-
-
-
1Loss-
PURG-
-
-
-
1Loss-
PUS3-
-
-
-
1Loss-
PUS7L-
-
-
-
1Loss-
PWP1-
-
-
-
1Loss-
PWWP2A-
-
-
-
1Loss-
PWWP2B-
-
-
-
1Loss-
PXDC1-
-
-
-
1Loss-
PXDNL-
-
-
-
3Gain-
PXK-
-
-
-
1Loss-
PXT1-
-
-
-
1Loss-
PXYLP1-
-
-
-
5Amp-
PYCR1-
-
-
-
1Loss-
PYCR3-
-
-
-
4Gain-
PYDC2-
-
-
-
7Amp-
PYGL-
-
-
-
1Loss-
PYGM-
-
-
-
1Loss-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
PYM1-
-
-
-
1Loss-
PYROXD2-
-
-
-
1Loss-
QARS-
-
-
-
1Loss-
QRFPR-
-
-
-
3Gain-
QRICH1-
-
-
-
1Loss-
QSER1-
-
-
-
1Loss-
QSOX1-
-
-
-
3Gain-
QTRT2-
-
-
-
4Gain-
R3HCC1-
-
-
-
1Loss-
R3HCC1L-
-
-
-
1Loss-
R3HDM2-
-
-
-
1Loss-
RAB11FIP1-
-
-
-
3Gain-
RAB11FIP2-
-
-
-
1Loss-
RAB13-
-
-
-
3Gain-
RAB15-
-
-
-
1Loss-
RAB17-
-
-
-
1Loss-
RAB21-
-
-
-
1Loss-
RAB24-
-
-
-
1Loss-
RAB25-
-
-
-
3Gain-
RAB2A-
-
-
-
3Gain-
RAB2B-
-
-
-
1Loss-
RAB30-
-
-
-
1Loss-
RAB32-
-
-
-
1Loss-
RAB33B-
-
-
-
3Gain-
RAB38-
-
-
-
1Loss-
RAB39A-
-
-
-
1Loss-
RAB3IL1-
-
-
-
1Loss-
RAB3IP-
-
-
-
1Loss-
RAB40B-
-
-
-
1Loss-
RAB43-
-
-
-
5Amp-
RAB44-
-
-
-
1Loss-
RAB5A-
-
-
-
1Loss-
RAB5B-
-
-
-
1Loss-
RAB6A-
-
-
-
1Loss-
RAB6B-
-
-
-
5Amp-
RAB7A-
-
-
-
5Amp-
RABEP1-
-
-
-
1Loss-
RABGAP1L-
-
-
-
3Gain-
RABGEF1-
-
-
-
1Loss-
RABGGTA-
-
-
-
1Loss-
RABGGTB-
-
-
-
1Loss-
RABL3-
-
-
-
5Amp-
RAC1-
-
-
-
3Gain-
RAC3-
-
-
-
1Loss-
RACGAP1-
-
-
-
1Loss-
RACK1-
-
-
-
1Loss-
RAD18-
-
-
-
1Loss-
RAD21-
-
-
-
4Gain-
RAD23B-
-
-
-
3Gain-
RAD51B-
-
-
-
1Loss-
RAD54B-
-
-
-
4Gain-
RAD54L2-
-
-
-
1Loss-
RAD9A-
-
-
-
1Loss-
RAD9B-
-
-
-
1Loss-
RADIL-
-
-
-
3Gain-
RAET1E-
-
-
-
1Loss-
RAET1G-
-
-
-
1Loss-
RAET1L-
-
-
-
1Loss-
RAF1-
-
-
-
1Loss-
RAG1-
-
-
-
1Loss-
RAG2-
-
-
-
1Loss-
RAI1-
-
-
-
1Loss-
RALGAPA1-
-
-
-
1Loss-
RALGPS2-
-
-
-
3Gain-
RALYL-
-
-
-
3Gain-
RAMP1-
-
-
-
1Loss-
RANBP17-
-
-
-
1Loss-
RANBP6-
-
-
-
1Loss-
RANBP9-
-
-
-
1Loss-
RAP1A-
-
-
-
1Loss-
RAP1B-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAP2A-
-
-
-
1Loss-
RAP2B-
-
-
-
5Amp-
RAPGEF2-
-
-
-
3Gain-
RAPGEF3-
-
-
-
1Loss-
RAPGEF4-
-
-
-
3Gain-
RAPH1-
-
-
-
3Gain-
RAPSN-
-
-
-
1Loss-
RARB-
-
-
-
1Loss-
RARG-
-
-
-
1Loss-
RARRES1-
-
-
-
5Amp-
RARRES3-
-
-
-
1Loss-
RARS-
-
-
-
1Loss-
RASA2-
-
-
-
5Amp-
RASAL1-
-
-
-
1Loss-
RASAL2-
-
-
-
3Gain-
RASD1-
-
-
-
1Loss-
RASEF-
-
-
-
3Gain-
RASGEF1A-
-
-
-
1Loss-
RASGEF1C-
-
-
-
1Loss-
RASGRP2-
-
-
-
1Loss-
RASSF1-
-
-
-
1Loss-
RASSF10-
-
-
-
1Loss-
RASSF3-
-
-
-
1Loss-
RASSF4-
-
-
-
1Loss-
RASSF7-
-
-
-
1Loss-
RASSF9-
-
-
-
1Loss-
RB1CC1-
-
-
-
3Gain-
RBAK-
-
-
-
3Gain-
RBAK-RBAKDN-
-
-
-
3Gain-
RBM12B-
-
-
-
4Gain-
RBM15-
-
-
-
1Loss-
RBM15B-
-
-
-
1Loss-
RBM19-
-
-
-
1Loss-
RBM20-
-
-
-
1Loss-
RBM23-
-
-
-
5Amp-
RBM24-
-
-
-
1Loss-
RBM25-
-
-
-
1Loss-
RBM44-
-
-
-
1Loss-
RBM45-
-
-
-
3Gain-
RBM46-
-
-
-
3Gain-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBM7-
-
-
-
1Loss-
RBM8A-
-
-
-
3Gain-
RBMS2-
-
-
-
1Loss-
RBMS3-
-
-
-
1Loss-
RBMXL1-
-
-
-
1Loss-
RBMXL2-
-
-
-
1Loss-
RBP1-
-
-
-
5Amp-
RBP2-
-
-
-
5Amp-
RBP3-
-
-
-
1Loss-
RBP4-
-
-
-
1Loss-
RBPMS-
-
-
-
1Loss-
RBSN-
-
-
-
1Loss-
RC3H1-
-
-
-
3Gain-
RCAN2-
-
-
-
1Loss-
RCL1-
-
-
-
1Loss-
RCN1-
-
-
-
1Loss-
RCOR2-
-
-
-
1Loss-
RCSD1-
-
-
-
3Gain-
RCVRN-
-
-
-
1Loss-
RDH10-
-
-
-
3Gain-
RDH11-
-
-
-
1Loss-
RDH12-
-
-
-
1Loss-
RDH16-
-
-
-
1Loss-
RDH5-
-
-
-
1Loss-
RDX-
-
-
-
1Loss-
REC8-
-
-
-
1Loss-
RECQL4-
-
-
-
4Gain-
REELD1-
-
-
-
3Gain-
REEP3-
-
-
-
1Loss-
REEP4-
-
-
-
1Loss-
REG4-
-
-
-
1Loss-
RELT-
-
-
-
1Loss-
REM2-
-
-
-
5Amp-
REPS1-
-
-
-
1Loss-
RESP18-
-
-
-
3Gain-
RET-
-
-
-
1Loss-
RETNLB-
-
-
-
4Gain-
RETREG1-
-
-
-
3Gain-
RETREG2-
-
-
-
3Gain-
REXO2-
-
-
-
1Loss-
RFC4-
-
-
-
7Amp-
RFK-
-
-
-
3Gain-
RFLNB-
-
-
-
1Loss-
RFNG-
-
-
-
1Loss-
RFT1-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RFTN2-
-
-
-
3Gain-
RFX3-
-
-
-
1Loss-
RFX4-
-
-
-
1Loss-
RFX5-
-
-
-
3Gain-
RGL1-
-
-
-
3Gain-
RGL2-
-
-
-
1Loss-
RGR-
-
-
-
1Loss-
RGS1-
-
-
-
3Gain-
RGS10-
-
-
-
1Loss-
RGS13-
-
-
-
3Gain-
RGS14-
-
-
-
1Loss-
RGS16-
-
-
-
3Gain-
RGS18-
-
-
-
3Gain-
RGS2-
-
-
-
3Gain-
RGS20-
-
-
-
3Gain-
RGS21-
-
-
-
3Gain-
RGS22-
-
-
-
4Gain-
RGS3-
-
-
-
3Gain-
RGS4-
-
-
-
3Gain-
RGS5-
-
-
-
3Gain-
RGS6-
-
-
-
1Loss-
RGS8-
-
-
-
3Gain-
RGSL1-
-
-
-
3Gain-
RHAG-
-
-
-
1Loss-
RHBDD1-
-
-
-
3Gain-
RHBG-
-
-
-
3Gain-
RHEBL1-
-
-
-
1Loss-
RHO-
-
-
-
5Amp-
RHOA-
-
-
-
1Loss-
RHOBTB1-
-
-
-
1Loss-
RHOBTB2-
-
-
-
1Loss-
RHOC-
-
-
-
1Loss-
RHOG-
-
-
-
1Loss-
RHOJ-
-
-
-
1Loss-
RHPN1-
-
-
-
4Gain-
RIC1-
-
-
-
1Loss-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RIC8B-
-
-
-
1Loss-
RIDA-
-
-
-
4Gain-
RIIAD1-
-
-
-
3Gain-
RILP-
-
-
-
1Loss-
RIMS2-
-
-
-
4Gain-
RING1-
-
-
-
1Loss-
RIOK1-
-
-
-
1Loss-
RIOX1-
-
-
-
1Loss-
RIOX2-
-
-
-
5Amp-
RIPK1-
-
-
-
1Loss-
RIPK2-
-
-
-
4Gain-
RIPK3-
-
-
-
1Loss-
RIPOR2-
-
-
-
1Loss-
RIT1-
-
-
-
3Gain-
RITA1-
-
-
-
1Loss-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RMDN1-
-
-
-
4Gain-
RMI1-
-
-
-
3Gain-
RMND1-
-
-
-
1Loss-
RMND5B-
-
-
-
1Loss-
RNASE1-
-
-
-
1Loss-
RNASE10-
-
-
-
1Loss-
RNASE11-
-
-
-
1Loss-
RNASE12-
-
-
-
1Loss-
RNASE13-
-
-
-
1Loss-
RNASE2-
-
-
-
1Loss-
RNASE3-
-
-
-
1Loss-
RNASE4-
-
-
-
1Loss-
RNASE6-
-
-
-
1Loss-
RNASE7-
-
-
-
1Loss-
RNASE8-
-
-
-
1Loss-
RNASE9-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RNASEL-
-
-
-
3Gain-
RND1-
-
-
-
1Loss-
RNF112-
-
-
-
1Loss-
RNF113B-
-
-
-
1Loss-
RNF115-
-
-
-
3Gain-
RNF121-
-
-
-
1Loss-
RNF122-
-
-
-
3Gain-
RNF123-
-
-
-
1Loss-
RNF13-
-
-
-
5Amp-
RNF130-
-
-
-
1Loss-
RNF139-
-
-
-
4Gain-
RNF141-
-
-
-
1Loss-
RNF144B-
-
-
-
1Loss-
RNF145-
-
-
-
1Loss-
RNF150-
-
-
-
3Gain-
RNF166-
-
-
-
1Loss-
RNF167-
-
-
-
1Loss-
RNF168-
-
-
-
7Amp-
RNF169-
-
-
-
1Loss-
RNF170-
-
-
-
3Gain-
RNF175-
-
-
-
3Gain-
RNF182-
-
-
-
1Loss-
RNF183-
-
-
-
3Gain-
RNF19A-
-
-
-
4Gain-
RNF2-
-
-
-
3Gain-
RNF20-
-
-
-
3Gain-
RNF212B-
-
-
-
5Amp-
RNF214-
-
-
-
1Loss-
RNF216-
-
-
-
3Gain-
RNF222-
-
-
-
1Loss-
RNF227-
-
-
-
1Loss-
RNF25-
-
-
-
3Gain-
RNF26-
-
-
-
1Loss-
RNF31-
-
-
-
1Loss-
RNF39-
-
-
-
1Loss-
RNF41-
-
-
-
1Loss-
RNF44-
-
-
-
1Loss-
RNF5-
-
-
-
1Loss-
RNF7-
-
-
-
5Amp-
RNF8-
-
-
-
1Loss-
RNH1-
-
-
-
1Loss-
RNLS-
-
-
-
1Loss-
RNPC3-
-
-
-
1Loss-
RNPEPL1-
-
-
-
1Loss-
RNPS1-
-
-
-
3GainSNHG19--RNPS1
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROBO3-
-
-
-
1Loss-
ROBO4-
-
-
-
1Loss-
ROM1-
-
-
-
1Loss-
ROPN1-
-
-
-
5Amp-
ROPN1B-
-
-
-
5Amp-
ROPN1L-
-
-
-
3Gain-
ROR2-
-
-
-
3Gain-
RORB-
-
-
-
3Gain-
RORC-
-
-
-
3Gain-
RP1-
-
-
-
3Gain-
RPA1-
-
-
-
1Loss-
RPA3-
-
-
-
3Gain-
RPAIN-
-
-
-
1Loss-
RPAP1-
-
-
-
3Gain-
RPAP2-
-
-
-
1Loss-
RPAP3-
-
-
-
1Loss-
RPE-
-
-
-
3Gain-
RPE65-
-
-
-
1Loss-
RPEL1-
-
-
-
1Loss-
RPF1-
-
-
-
1Loss-
RPGRIP1-
-
-
-
1Loss-
RPH3A-
-
-
-
1Loss-
RPH3AL-
-
-
-
1Loss-
RPL10A-
-
-
-
1Loss-
RPL10L-
-
-
-
1Loss-
RPL14-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL22L1-
-
-
-
5Amp-
RPL24-
-
-
-
4Gain-
RPL26L1-
-
-
-
1Loss-
RPL27A-
-
-
-
1Loss-
RPL29-
-
-
-
1Loss-
RPL30-
-
-
-
4Gain-
RPL32-
-
-
-
1Loss-
RPL35A-
-
-
-
7Amp-
RPL37A-
-
-
-
3Gain-
RPL39L-
-
-
-
7Amp-
RPL41-
-
-
-
1Loss-
RPL5-
-
-
-
1Loss-
RPL6-
-
-
-
1Loss-
RPL7-
-
-
-
3Gain-
RPL7L1-
-
-
-
1Loss-
RPL8-
-
-
-
4Gain-
RPLP2-
-
-
-
1Loss-
RPN1-
-
-
-
5Amp-
RPP14-
-
-
-
1Loss-
RPP21-
-
-
-
1Loss-
RPP30-
-
-
-
1Loss-
RPP40-
-
-
-
1Loss-
RPRD2-
-
-
-
3Gain-
RPS10-
-
-
-
1Loss-
RPS10-NUDT3-
-
-
-
1Loss-
RPS12-
-
-
-
1Loss-
RPS13-
-
-
-
1Loss-
RPS18-
-
-
-
1Loss-
RPS20-
-
-
-
3Gain-
RPS24-
-
-
-
1Loss-
RPS25-
-
-
-
1Loss-
RPS26-
-
-
-
1Loss-
RPS27-
-
-
-
3Gain-
RPS3-
-
-
-
1Loss-
RPS3A-
-
-
-
3Gain-
RPS6KA4-
-
-
-
1Loss-
RPS6KB2-
-
-
-
1Loss-
RPS6KL1-
-
-
-
1Loss-
RPSA-
-
-
-
1Loss-
RPTN-
-
-
-
3Gain-
RPUSD3-
-
-
-
1Loss-
RPUSD4-
-
-
-
1Loss-
RRAS2-
-
-
-
1Loss-
RREB1-
-
-
-
1Loss-
RRM1-
-
-
-
1Loss-
RRM2B-
-
-
-
4Gain-
RRNAD1-
-
-
-
3Gain-
RRP12-
-
-
-
1Loss-
RRP36-
-
-
-
1Loss-
RRP8-
-
-
-
1Loss-
RRP9-
-
-
-
1Loss-
RRS1-
-
-
-
3Gain-
RSBN1-
-
-
-
1Loss-
RSF1-
-
-
-
1Loss-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH4A-
-
-
-
3Gain-
RSPH9-
-
-
-
1Loss-
RSPO2-
-
-
-
4Gain-
RSRC1-
-
-
-
5Amp-
RTCA-
-
-
-
1Loss-
RTKN2-
-
-
-
1Loss-
RTN1-
-
-
-
1Loss-
RTN3-
-
-
-
1Loss-
RTN4RL1-
-
-
-
1Loss-
RTP1-
-
-
-
7Amp-
RTP2-
-
-
-
7Amp-
RTP3-
-
-
-
1Loss-
RTP4-
-
-
-
7Amp-
RTP5-
-
-
-
1Loss-
RTRAF-
-
-
-
1Loss-
RUBCN-
-
-
-
7Amp-
RUFY1-
-
-
-
1Loss-
RUFY2-
-
-
-
1Loss-
RUFY4-
-
-
-
3Gain-
RUNX1T1-
-
-
-
4Gain-
RUNX2-
-
-
-
1Loss-
RUSC1-
-
-
-
3Gain-
RUVBL1-
-
-
-
5Amp-
RWDD1-
-
-
-
3Gain-
RWDD3-
-
-
-
1Loss-
RXFP1-
-
-
-
3Gain-
RXFP4-
-
-
-
3Gain-
RXRA-
-
-
-
2-WDR5--RXRA
RXRB-
-
-
-
1Loss-
RXRG-
-
-
-
3Gain-
RXYLT1-
-
-
-
1Loss-
RYBP-
-
-
-
1Loss-
RYK-
-
-
-
5Amp-
S100A1-
-
-
-
3Gain-
S100A10-
-
-
-
3Gain-
S100A11-
-
-
-
3Gain-
S100A12-
-
-
-
3Gain-
S100A13-
-
-
-
3Gain-
S100A14-
-
-
-
3Gain-
S100A16-
-
-
-
3Gain-
S100A2-
-
-
-
3Gain-
S100A3-
-
-
-
3Gain-
S100A4-
-
-
-
3Gain-
S100A5-
-
-
-
3Gain-
S100A6-
-
-
-
3Gain-
S100A7-
-
-
-
3Gain-
S100A7A-
-
-
-
3Gain-
S100A7L2-
-
-
-
3Gain-
S100A8-
-
-
-
3Gain-
S100A9-
-
-
-
3Gain-
S1PR1-
-
-
-
1Loss-
S1PR3-
-
-
-
3Gain-
SAA1-
-
-
-
1Loss-
SAA2-
-
-
-
1Loss-
SAA2-SAA4-
-
-
-
1Loss-
SAA4-
-
-
-
1Loss-
SAAL1-
-
-
-
1Loss-
SACM1L-
-
-
-
1Loss-
SAG-
-
-
-
1Loss-
SALL2-
-
-
-
1Loss-
SAMD12-
-
-
-
4Gain-
SAMD13-
-
-
-
1Loss-
SAMD15-
-
-
-
1Loss-
SAMD3-
-
-
-
1Loss-
SAMD4A-
-
-
-
1Loss-
SAMD5-
-
-
-
1Loss-
SAMD7-
-
-
-
5Amp-
SAMD8-
-
-
-
1Loss-
SAPCD1-
-
-
-
1Loss-
SAR1A-
-
-
-
1Loss-
SARAF-
-
-
-
1Loss-
SARNP-
-
-
-
1Loss-
SARS-
-
-
-
1Loss-
SART3-
-
-
-
1Loss-
SASH1-
-
-
-
1Loss-
SASS6-
-
-
-
1Loss-
SAT2-
-
-
-
1Loss-
SATB1-
-
-
-
1Loss-
SATB2-
-
-
-
3Gain-
SAV1-
-
-
-
3Gain-
SAYSD1-
-
-
-
1Loss-
SBDS-
-
-
-
1Loss-
SBF2-
-
-
-
1Loss-
SBSPON-
-
-
-
3Gain-
SC5D-
-
-
-
1Loss-
SCAF11-
-
-
-
1Loss-
SCAMP3-
-
-
-
3Gain-
SCAP-
-
-
-
1Loss-
SCARA3-
-
-
-
1Loss-
SCARA5-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCART1-
-
-
-
1Loss-
SCD-
-
-
-
1Loss-
SCFD1-
-
-
-
1Loss-
SCG2-
-
-
-
3Gain-
SCGB1A1-
-
-
-
1Loss-
SCGB1C1-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCGB1D1-
-
-
-
1Loss-
SCGB1D2-
-
-
-
1Loss-
SCGB1D4-
-
-
-
1Loss-
SCGB2A1-
-
-
-
1Loss-
SCGB2A2-
-
-
-
1Loss-
SCGB3A1-
-
-
-
1Loss-
SCGN-
-
-
-
1Loss-
SCHIP1-
-
-
-
5Amp-
SCIMP-
-
-
-
1Loss-
SCLT1-
-
-
-
3Gain-
SCLY-
-
-
-
1Loss-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN2B-
-
-
-
1Loss-
SCN3B-
-
-
-
1Loss-
SCN4B-
-
-
-
1Loss-
SCN5A-
-
-
-
1Loss-
SCN8A-
-
-
-
1Loss-
SCNM1-
-
-
-
3Gain-
SCO1-
-
-
-
1Loss-
SCOC-
-
-
-
3Gain-
SCRIB-
-
-
-
4Gain-
SCRN3-
-
-
-
3Gain-
SCRT1-
-
-
-
4Gain-
SCT-
-
-
-
1Loss-
SCUBE2-
-
-
-
1Loss-
SCUBE3-
-
-
-
1Loss-
SCX-
-
-
-
3Gain-
SCYL1-
-
-
-
3Gain-
SCYL2-
-
-
-
1Loss-
SCYL3-
-
-
-
3Gain-
SDC2-
-
-
-
4Gain-
SDCBP-
-
-
-
3Gain-
SDHA-
-
-
-
3Gain-
SDHAF2-
-
-
-
1Loss-
SDHC-
-
-
-
3Gain-
SDHD-
-
-
-
1Loss-
SDK1-
-
-
-
3Gain-
SDR16C5-
-
-
-
3Gain-
SDR39U1-
-
-
-
1Loss-
SDR42E1-
-
-
-
3Gain-
SDR9C7-
-
-
-
1Loss-
SDS-
-
-
-
1Loss-
SDSL-
-
-
-
1Loss-
SEC13-
-
-
-
1Loss-
SEC16B-
-
-
-
3Gain-
SEC22A-
-
-
-
5Amp-
SEC22B-
-
-
-
1Loss-
SEC22C-
-
-
-
1Loss-
SEC23A-
-
-
-
1Loss-
SEC23IP-
-
-
-
1Loss-
SEC24C-
-
-
-
1Loss-
SEC24D-
-
-
-
3Gain-
SEC31B-
-
-
-
1Loss-
SEC61A1-
-
-
-
5Amp-
SEC61B-
-
-
-
3Gain-
SEC62-
-
-
-
5Amp-
SECISBP2-
-
-
-
3Gain-
SECTM1-
-
-
-
1Loss-
SEL1L-
-
-
-
1Loss-
SELE-
-
-
-
3Gain-
SELENBP1-
-
-
-
3Gain-
SELENOF-
-
-
-
1Loss-
SELENOK-
-
-
-
1Loss-
SELENOT-
-
-
-
5Amp-
SELL-
-
-
-
3Gain-
SELP-
-
-
-
3Gain-
SELPLG-
-
-
-
1Loss-
SEMA3B-
-
-
-
1Loss-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA4A-
-
-
-
3Gain-
SEMA4D-
-
-
-
3Gain-
SEMA4G-
-
-
-
1Loss-
SEMA5A-
-
-
-
3Gain-
SEMA5B-
-
-
-
5Amp-
SEMA6C-
-
-
-
4Gain-
SENP1-
-
-
-
1Loss-
SENP2-
-
-
-
7Amp-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP5-
-
-
-
7Amp-
SENP7-
-
-
-
4Gain-
SEPT2-
-
-
-
1Loss-
SERBP1-
-
-
-
1Loss-
SERGEF-
-
-
-
1Loss-
SERP1-
-
-
-
5Amp-
SERPINB1-
-
-
-
1Loss-
SERPINB6-
-
-
-
1Loss-
SERPINB9-
-
-
-
1Loss-
SERPINC1-
-
-
-
3Gain-
SERPINE2-
-
-
-
3Gain-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERPINH1-
-
-
-
1Loss-
SERPINI1-
-
-
-
5Amp-
SERPINI2-
-
-
-
5Amp-
SESN3-
-
-
-
9Amp-
SESTD1-
-
-
-
3Gain-
SETD2-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETD7-
-
-
-
3Gain-
SETDB1-
-
-
-
3Gain-
SETMAR-
-
-
-
1Loss-
SF1-
-
-
-
1Loss-
SF3B1-
-
-
-
3Gain-
SF3B4-
-
-
-
3Gain-
SF3B5-
-
-
-
1Loss-
SFMBT1-
-
-
-
1Loss-
SFR1-
-
-
-
1Loss-
SFRP1-
-
-
-
3Gain-
SFRP2-
-
-
-
3Gain-
SFRP5-
-
-
-
1Loss-
SFT2D2-
-
-
-
3Gain-
SFTA2-
-
-
-
1Loss-
SFTA3-
-
-
-
1Loss-
SFTPA1-
-
-
-
1Loss-
SFTPA2-
-
-
-
1Loss-
SFTPC-
-
-
-
1Loss-
SFTPD-
-
-
-
1Loss-
SFXN1-
-
-
-
1Loss-
SFXN2-
-
-
-
1Loss-
SFXN3-
-
-
-
1Loss-
SFXN4-
-
-
-
1Loss-
SGCZp.P115L
Missense
SNP
0.996
2--
SGIP1-
-
-
-
1Loss-
SGK1-
-
-
-
1Loss-
SGK3-
-
-
-
3Gain-
SGMS1-
-
-
-
1Loss-
SGO1-
-
-
-
1Loss-
SGO2-
-
-
-
3Gain-
SGPL1-
-
-
-
1Loss-
SGPP1-
-
-
-
1Loss-
SGPP2-
-
-
-
3Gain-
SGSM2-
-
-
-
1Loss-
SH2B3-
-
-
-
1Loss-
SH2D1B-
-
-
-
3Gain-
SH2D2A-
-
-
-
3Gain-
SH2D4A-
-
-
-
1Loss-
SH2D4B-
-
-
-
1Loss-
SH3BP4-
-
-
-
1Loss-
SH3BP5-
-
-
-
1Loss-
SH3D19-
-
-
-
3Gain-
SH3GLB1-
-
-
-
1Loss-
SH3PXD2A-
-
-
-
1Loss-
SH3PXD2B-
-
-
-
1Loss-
SH3RF1-
-
-
-
3Gain-
SHANK2-
-
-
-
15Amp-
SHARPIN-
-
-
-
4Gain-
SHBG-
-
-
-
1Loss-
SHC1-
-
-
-
3Gain-
SHC3-
-
-
-
3Gain-
SHCBP1L-
-
-
-
3Gain-
SHE-
-
-
-
3Gain-
SHISA5-
-
-
-
1Loss-
SHISA6-
-
-
-
1Loss-
SHLD2-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHMT2-
-
-
-
1Loss-
SHOC2-
-
-
-
1Loss-
SHOX2-
-
-
-
5Amp-
SHPK-
-
-
-
1Loss-
SHPRH-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SHTN1-
-
-
-
1Loss-
SI-
-
-
-
5Amp-
SIAE-
-
-
-
1Loss-
SIAH2-
-
-
-
5Amp-
SIDT1-
-
-
-
4Gain-
SIDT2-
-
-
-
1Loss-
SIGIRR-
-
-
-
1Loss-
SIK1B-
-
-
-
1Loss-
SIK2-
-
-
-
1Loss-
SIK3-
-
-
-
1Loss-
SIKE1-
-
-
-
1Loss-
SIMC1-
-
-
-
1Loss-
SIPA1L1-
-
-
-
1Loss-
SIRT1-
-
-
-
1Loss-
SIRT3-
-
-
-
1Loss-
SIRT5-
-
-
-
1Loss-
SIRT7-
-
-
-
1Loss-
SIX1-
-
-
-
1Loss-
SIX4-
-
-
-
1Loss-
SIX6-
-
-
-
1Loss-
SKIL-
-
-
-
5Amp-
SKIV2L-
-
-
-
1Loss-
SLA-
-
-
-
4Gain-
SLAMF1-
-
-
-
3Gain-
SLAMF6-
-
-
-
3Gain-
SLAMF7-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLC10A1-
-
-
-
1Loss-
SLC10A2-
-
-
-
1Loss-
SLC10A5-
-
-
-
3Gain-
SLC10A7-
-
-
-
3Gain-
SLC11A1-
-
-
-
3Gain-
SLC11A2-
-
-
-
1Loss-
SLC12A7-
-
-
-
3Gain-
SLC12A8-
-
-
-
5Amp-
SLC13A5-
-
-
-
1Loss-
SLC15A1-
-
-
-
1Loss-
SLC15A2-
-
-
-
5Amp-
SLC15A3-
-
-
-
1Loss-
SLC16A1-
-
-
-
1Loss-
SLC16A11-
-
-
-
1Loss-
SLC16A12-
-
-
-
1Loss-
SLC16A13-
-
-
-
1Loss-
SLC16A14-
-
-
-
1Loss-
SLC16A4-
-
-
-
1Loss-
SLC16A7-
-
-
-
1Loss-
SLC16A9-
-
-
-
1Loss-
SLC17A1-
-
-
-
1Loss-
SLC17A2-
-
-
-
1Loss-
SLC17A3-
-
-
-
1Loss-
SLC17A4-
-
-
-
1Loss-
SLC17A6-
-
-
-
1Loss-
SLC17A8-
-
-
-
1Loss-
SLC18A1-
-
-
-
1Loss-
SLC18A2-
-
-
-
1Loss-
SLC18A3-
-
-
-
1Loss-
SLC18B1-
-
-
-
1Loss-
SLC19A2-
-
-
-
3Gain-
SLC19A3-
-
-
-
3Gain-
SLC1A1-
-
-
-
1Loss-
SLC1A2-
-
-
-
1Loss-
SLC20A2-
-
-
-
3Gain-
SLC22A10-
-
-
-
1Loss-
SLC22A11-
-
-
-
1Loss-
SLC22A12-
-
-
-
1Loss-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC22A15-
-
-
-
1Loss-
SLC22A17-
-
-
-
5Amp-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC22A23-
-
-
-
1Loss-
SLC22A24-
-
-
-
1Loss-
SLC22A25-
-
-
-
1Loss-
SLC22A6-
-
-
-
1Loss-
SLC22A7-
-
-
-
1Loss-
SLC22A8-
-
-
-
1Loss-
SLC22A9-
-
-
-
1Loss-
SLC23A3-
-
-
-
3Gain-
SLC25A11-
-
-
-
1Loss-
SLC25A12-
-
-
-
3Gain-
SLC25A16-
-
-
-
1Loss-
SLC25A18-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A21-
-
-
-
1Loss-
SLC25A22-
-
-
-
1Loss-
SLC25A24-
-
-
-
1Loss-
SLC25A26-
-
-
-
1Loss-
SLC25A27-
-
-
-
1Loss-
SLC25A28-
-
-
-
1Loss-
SLC25A3-
-
-
-
1Loss-
SLC25A31-
-
-
-
3Gain-
SLC25A32-
-
-
-
4Gain-
SLC25A36-
-
-
-
5Amp-
SLC25A37-
-
-
-
1Loss-
SLC25A38-
-
-
-
1Loss-
SLC25A44-
-
-
-
3Gain-
SLC26A10-
-
-
-
1Loss-
SLC26A6-
-
-
-
1Loss-
SLC26A7-
-
-
-
4Gain-
SLC26A8-
-
-
-
1Loss-
SLC27A3-
-
-
-
3Gain-
SLC28A3-
-
-
-
3Gain-
SLC29A1-
-
-
-
1Loss-
SLC29A3-
-
-
-
1Loss-
SLC29A4-
-
-
-
3Gain-
SLC2A12-
-
-
-
1Loss-
SLC2A13-
-
-
-
1Loss-
SLC2A2-
-
-
-
5Amp-
SLC2A4-
-
-
-
1Loss-
SLC30A7-
-
-
-
1Loss-
SLC30A8-
-
-
-
4Gain-
SLC31A1-
-
-
-
3Gain-
SLC31A2-
-
-
-
3Gain-
SLC33A1-
-
-
-
5Amp-
SLC34A1-
-
-
-
1Loss-
SLC35A3-
-
-
-
1Loss-
SLC35A5-
-
-
-
4Gain-
SLC35B2-
-
-
-
1Loss-
SLC35B3-
-
-
-
1Loss-
SLC35C1-
-
-
-
1Loss-
SLC35D1-
-
-
-
1Loss-
SLC35D2-
-
-
-
3Gain-
SLC35D3-
-
-
-
1Loss-
SLC35E3-
-
-
-
1Loss-
SLC35F2-
-
-
-
1Loss-
SLC35F4-
-
-
-
1Loss-
SLC35G1-
-
-
-
1Loss-
SLC35G2-
-
-
-
5Amp-
SLC35G6-
-
-
-
1Loss-
SLC36A4-
-
-
-
1Loss-
SLC37A2-
-
-
-
1Loss-
SLC37A4-
-
-
-
1Loss-
SLC38A1-
-
-
-
1Loss-
SLC38A2-
-
-
-
1Loss-
SLC38A3-
-
-
-
1Loss-
SLC38A4-
-
-
-
1Loss-
SLC38A6-
-
-
-
1Loss-
SLC38A8-
-
-
-
3Gain-
SLC39A1-
-
-
-
3Gain-
SLC39A10-
-
-
-
3Gain-
SLC39A13-
-
-
-
1Loss-
SLC39A14-
-
-
-
1Loss-
SLC39A2-
-
-
-
1Loss-
SLC39A4-
-
-
-
4Gain-
SLC39A5-
-
-
-
1Loss-
SLC39A7-
-
-
-
1Loss-
SLC39A9-
-
-
-
1Loss-
SLC3A2-
-
-
-
1Loss-
SLC40A1-
-
-
-
3Gain-
SLC41A2-
-
-
-
1Loss-
SLC41A3-
-
-
-
5Amp-
SLC43A2-
-
-
-
1Loss-
SLC44A1-
-
-
-
3Gain-
SLC44A3-
-
-
-
1Loss-
SLC44A4-
-
-
-
1Loss-
SLC44A5-
-
-
-
1Loss-
SLC45A4-
-
-
-
4Gain-
SLC46A2-
-
-
-
3Gain-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC48A1-
-
-
-
1Loss-
SLC4A3-
-
-
-
3Gain-
SLC4A7-
-
-
-
1Loss-
SLC4A8-
-
-
-
1Loss-
SLC50A1-
-
-
-
3Gain-
SLC51A-
-
-
-
7Amp-
SLC52A1-
-
-
-
1Loss-
SLC52A2-
-
-
-
4Gain-
SLC5A10-
-
-
-
1Loss-
SLC5A12-
-
-
-
1Loss-
SLC5A8-
-
-
-
1Loss-
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A15-
-
-
-
1Loss-
SLC6A17-
-
-
-
1Loss-
SLC6A18-
-
-
-
3Gain-
SLC6A19-
-
-
-
3Gain-
SLC6A20-
-
-
-
1Loss-
SLC6A3-
-
-
-
3Gain-
SLC6A5-
-
-
-
1Loss-
SLC6A6-
-
-
-
1Loss-
SLC7A11-
-
-
-
3Gain-
SLC7A13-
-
-
-
4Gain-
SLC7A14-
-
-
-
5Amp-
SLC7A2-
-
-
-
1Loss-
SLC7A5-
-
-
-
1Loss-
SLC7A7-
-
-
-
3Gain-
SLC7A8-
-
-
-
5Amp-
SLC8A3-
-
-
-
1Loss-
SLC8B1-
-
-
-
1Loss-
SLC9A3-
-
-
-
3Gain-
SLC9A9-
-
-
-
5Amp-
SLC9C1-
-
-
-
4Gain-
SLC9C2-
-
-
-
3Gain-
SLCO2A1-
-
-
-
5Amp-
SLCO2B1-
-
-
-
1Loss-
SLCO5A1-
-
-
-
7Amp-
SLF2-
-
-
-
1Loss-
SLIRP-
-
-
-
1Loss-
SLIT1-
-
-
-
1Loss-
SLIT3-
-
-
-
1Loss-
SLITRK3-
-
-
-
5Amp-
SLK-
-
-
-
1Loss-
SLMAP-
-
-
-
1Loss-
SLN-
-
-
-
1Loss-
SLU7-
-
-
-
1Loss-
SLURP1-
-
-
-
4Gain-
SLURP2-
-
-
-
4Gain-
SMAD1-
-
-
-
3Gain-
SMAGP-
-
-
-
1Loss-
SMARCA2-
-
-
-
1Loss-
SMARCA5-
-
-
-
3Gain-
SMARCAL1-
-
-
-
3Gain-
SMARCC1-
-
-
-
1Loss-
SMARCC2-
-
-
-
1Loss-
SMARCD1-
-
-
-
1Loss-
SMARCE1-
-
-
-
3Gain-
SMC2-
-
-
-
3Gain-
SMC3-
-
-
-
1Loss-
SMC4-
-
-
-
5Amp-
SMC5-
-
-
-
3Gain-
SMCO1-
-
-
-
7Amp-
SMCO4-
-
-
-
1Loss-
SMCP-
-
-
-
3Gain-
SMCR8-
-
-
-
1Loss-
SMG5-
-
-
-
3Gain-
SMG6-
-
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-
1Loss-
SMG7-
-
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-
3Gain-
SMIM11B-
-
-
-
1Loss-
SMIM13-
-
-
-
1Loss-
SMIM18-
-
-
-
1Loss-
SMIM19-
-
-
-
3Gain-
SMIM23-
-
-
-
1Loss-
SMIM29-
-
-
-
1Loss-
SMIM34B-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMLR1-
-
-
-
1Loss-
SMNDC1-
-
-
-
1Loss-
SMOC1-
-
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-
1Loss-
SMPD1-
-
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-
1Loss-
SMTNL2-
-
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-
1Loss-
SMUG1-
-
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-
1Loss-
SMYD4-
-
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-
1Loss-
SNAI2-
-
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3Gain-
SNAI3-
-
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-
1Loss-
SNAPC1-
-
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-
1Loss-
SNAPIN-
-
-
-
3Gain-
SNCB-
-
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-
1Loss-
SNCG-
-
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-
1Loss-
SNED1-
-
-
-
1Loss-
SNHG19-
-
-
-
NDNDSNHG19--RNPS1
SNHG28-
-
-
-
3Gain-
SNORC-
-
-
-
1Loss-
SNRK-
-
-
-
1Loss-
SNRNP48-
-
-
-
1Loss-
SNRPC-
-
-
-
1Loss-
SNRPF-
-
-
-
1Loss-
SNTB1-
-
-
-
4Gain-
SNTG1-
-
-
-
3Gain-
SNTN-
-
-
-
1Loss-
SNW1-
-
-
-
1Loss-
SNX16-
-
-
-
3Gain-
SNX19-
-
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-
1Loss-
SNX27-
-
-
-
3Gain-
SNX30-
-
-
-
3Gain-
SNX31-
-
-
-
4Gain-
SNX4-
-
-
-
5Amp-
SNX6-
-
-
-
1Loss-
SNX7-
-
-
-
1Loss-
SNX8-
-
-
-
3Gain-
SOAT1-
-
-
-
3Gain-
SOAT2-
-
-
-
1Loss-
SOCS2-
-
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-
1Loss-
SOCS4-
-
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-
1Loss-
SORBS1-
-
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-
1Loss-
SORBS3-
-
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-
1Loss-
SORCS1-
-
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-
1Loss-
SORCS3-
-
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-
1Loss-
SORL1-
-
-
-
1Loss-
SORT1-
-
-
-
1Loss-
SOX14-
-
-
-
5Amp-
SOX15-
-
-
-
1Loss-
SOX17-
-
-
-
3Gain-
SOX2-
-
-
-
7Amp-
SOX21-
-
-
-
1Loss-
SOX4-
-
-
-
1Loss-
SOX6-
-
-
-
1Loss-
SP1-
-
-
-
1Loss-
SP100-
-
-
-
1Loss-
SP110-
-
-
-
1Loss-
SP140-
-
-
-
1Loss-
SP140L-
-
-
-
1Loss-
SP3-
-
-
-
3Gain-
SP7-
-
-
-
1Loss-
SP9-
-
-
-
3Gain-
SPA17-
-
-
-
1Loss-
SPAG1-
-
-
-
4Gain-
SPAG16-
-
-
-
3Gain-
SPAG17-
-
-
-
1Loss-
SPAG7-
-
-
-
1Loss-
SPATA1-
-
-
-
1Loss-
SPATA12-
-
-
-
1Loss-
SPATA16-
-
-
-
5Amp-
SPATA19-
-
-
-
1Loss-
SPATA22-
-
-
-
1Loss-
SPATA3-
-
-
-
1Loss-
SPATA31A3-
-
-
-
3Gain-
SPATA31D1-
-
-
-
3Gain-
SPATA31D3-
-
-
-
3Gain-
SPATA31D4-
-
-
-
3Gain-
SPATA31E1-
-
-
-
3Gain-
SPATA46-
-
-
-
3Gain-
SPATA5-
-
-
-
3Gain-
SPATA6L-
-
-
-
1Loss-
SPATC1-
-
-
-
4Gain-
SPATS1-
-
-
-
1Loss-
SPATS2-
-
-
-
1Loss-
SPATS2L-
-
-
-
3Gain-
SPCS1-
-
-
-
1Loss-
SPCS2-
-
-
-
1Loss-
SPDEF-
-
-
-
1Loss-
SPDL1-
-
-
-
1Loss-
SPDYE4-
-
-
-
1Loss-
SPECC1-
-
-
-
1Loss-
SPEG-
-
-
-
3Gain-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPHKAP-
-
-
-
1Loss-
SPI1-
-
-
-
1Loss-
SPIC-
-
-
-
1Loss-
SPICE1-
-
-
-
4Gain-
SPIDR-
-
-
-
3Gain-
SPIN1-
-
-
-
3Gain-
SPINDOC-
-
-
-
1Loss-
SPINK8-
-
-
-
1Loss-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPOCK2-
-
-
-
1Loss-
SPOCK3-
-
-
-
3Gain-
SPON1-
-
-
-
1Loss-
SPP2-
-
-
-
1Loss-
SPRN-
-
-
-
1Loss-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRY1-
-
-
-
3Gain-
SPRYD3-
-
-
-
1Loss-
SPRYD4-
-
-
-
1Loss-
SPSB4-
-
-
-
5Amp-
SPTA1-
-
-
-
3Gain-
SPTB-
-
-
-
1Loss-
SPTLC1-
-
-
-
3Gain-
SPTLC2-
-
-
-
1Loss-
SPTSSA-
-
-
-
1Loss-
SPTSSB-
-
-
-
5Amp-
SPTY2D1-
-
-
-
1Loss-
SQLE-
-
-
-
4Gain-
SQSTM1-
-
-
-
1Loss-
SRD5A1-
-
-
-
3Gain-
SREBF1-
-
-
-
1Loss-
SRF-
-
-
-
1Loss-
SRGAP1-
-
-
-
1Loss-
SRGAP2B-
-
-
-
3Gain-
SRGAP2C-
-
-
-
1Loss-
SRGAP3-
-
-
-
1Loss-
SRGN-
-
-
-
1Loss-
SRP54-
-
-
-
1Loss-
SRPK1-
-
-
-
1Loss-
SRPRA-
-
-
-
1Loss-
SRPRB-
-
-
-
5Amp-
SRR-
-
-
-
1Loss-
SRSF11-
-
-
-
1Loss-
SRSF3-
-
-
-
1Loss-
SRSF5-
-
-
-
1Loss-
SRSF8-
-
-
-
9Amp-
SS18L2-
-
-
-
1Loss-
SSH1-
-
-
-
1Loss-
SSR1-
-
-
-
1Loss-
SSR2-
-
-
-
3Gain-
SSR3-
-
-
-
5Amp-
SSSCA1-
-
-
-
3Gain-
SST-
-
-
-
7Amp-
SSTR1-
-
-
-
1Loss-
SSU72P2-
-
-
-
1Loss-
SSU72P3-
-
-
-
1Loss-
SSUH2-
-
-
-
1Loss-
SSX2IP-
-
-
-
1Loss-
ST14-
-
-
-
1Loss-
ST18-
-
-
-
3Gain-
ST3GAL1-
-
-
-
4Gain-
ST3GAL4-
-
-
-
1Loss-
ST3GAL6-
-
-
-
4Gain-
ST5-
-
-
-
1Loss-
ST6GAL1-
-
-
-
7Amp-
ST6GALNAC3-
-
-
-
1Loss-
ST6GALNAC5-
-
-
-
1Loss-
ST7L-
-
-
-
1Loss-
STAB1-
-
-
-
1Loss-
STAB2-
-
-
-
1Loss-
STAC-
-
-
-
1Loss-
STAC3-
-
-
-
1Loss-
STAG1-
-
-
-
5Amp-
STAMBPL1-
-
-
-
1Loss-
STAR-
-
-
-
3Gain-
STARD10-
-
-
-
1Loss-
STARD3-
-
-
-
3Gain-
STAT1-
-
-
-
3Gain-
STAT2-
-
-
-
1Loss-
STAT4-
-
-
-
3Gain-
STAT6-
-
-
-
1Loss-
STAU2-
-
-
-
3Gain-
STC1-
-
-
-
1Loss-
STC2-
-
-
-
1Loss-
STIM1-
-
-
-
1Loss-
STIMATE-
-
-
-
1Loss-
STIP1-
-
-
-
1Loss-
STK10-
-
-
-
1Loss-
STK11IP-
-
-
-
3Gain-
STK16-
-
-
-
3Gain-
STK17B-
-
-
-
3Gain-
STK19-
-
-
-
1Loss-
STK24-
-
-
-
1Loss-
STK25-
-
-
-
1Loss-
STK3-
-
-
-
4Gain-
STK32C-
-
-
-
1Loss-
STK33-
-
-
-
1Loss-
STK36-
-
-
-
3Gain-
STK38-
-
-
-
1Loss-
STMN2-
-
-
-
3Gain-
STMN4-
-
-
-
1Loss-
STMND1-
-
-
-
1Loss-
STN1-
-
-
-
1Loss-
STON2-
-
-
-
1Loss-
STOX1-
-
-
-
1Loss-
STRADB-
-
-
-
3Gain-
STRIP1-
-
-
-
1Loss-
STRN3-
-
-
-
1Loss-
STT3A-
-
-
-
1Loss-
STT3B-
-
-
-
1Loss-
STX11-
-
-
-
1Loss-
STX17-
-
-
-
3Gain-
STX19-
-
-
-
4Gain-
STX3-
-
-
-
1Loss-
STX5-
-
-
-
1Loss-
STX6-
-
-
-
3Gain-
STX7-
-
-
-
1Loss-
STX8-
-
-
-
1Loss-
STXBP3-
-
-
-
1Loss-
STXBP5-
-
-
-
1Loss-
STXBP5L-
-
-
-
5Amp-
STXBP6-
-
-
-
1Loss-
STYX-
-
-
-
1Loss-
SUCLG2-
-
-
-
1Loss-
SUCNR1-
-
-
-
5Amp-
SUCO-
-
-
-
3Gain-
SUFU-
-
-
-
1Loss-
SULF1-
-
-
-
7Amp-
SUMF1-
-
-
-
1Loss-
SUMO1-
-
-
-
3Gain-
SUMO4-
-
-
-
1Loss-
SUN1-
-
-
-
1Loss-
SUOX-
-
-
-
1Loss-
SUPT16H-
-
-
-
1Loss-
SUPT3H-
-
-
-
1Loss-
SUPV3L1-
-
-
-
1Loss-
SUSD1-
-
-
-
3Gain-
SUSD3-
-
-
-
3Gain-
SUSD5-
-
-
-
1Loss-
SUSD6-
-
-
-
1Loss-
SV2A-
-
-
-
3Gain-
SVEP1-
-
-
-
3Gain-
SVIP-
-
-
-
1Loss-
SVOP-
-
-
-
1Loss-
SWAP70-
-
-
-
1Loss-
SWT1-
-
-
-
3Gain-
SYBU-
-
-
-
4Gain-
SYCE1-
-
-
-
1Loss-
SYCE1L-
-
-
-
1Loss-
SYCP1-
-
-
-
1Loss-
SYCP2L-
-
-
-
1Loss-
SYCP3-
-
-
-
1Loss-
SYDE2-
-
-
-
1Loss-
SYK-
-
-
-
3Gain-
SYN2-
-
-
-
1Loss-
SYNDIG1L-
-
-
-
1Loss-
SYNE2-
-
-
-
1Loss-
SYNGAP1-
-
-
-
1Loss-
SYNJ2BP-
-
-
-
1Loss-
SYNJ2BP-COX16-
-
-
-
1Loss-
SYNPO2-
-
-
-
3Gain-
SYNPO2L-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
SYPL2-
-
-
-
1Loss-
SYT1-
-
-
-
1Loss-
SYT11-
-
-
-
3Gain-
SYT13-
-
-
-
1Loss-
SYT15-
-
-
-
1Loss-
SYT16-
-
-
-
1Loss-
SYT6-
-
-
-
1Loss-
SYT7-
-
-
-
1Loss-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
SYTL2-
-
-
-
1Loss-
TAAR1-
-
-
-
1Loss-
TAAR2-
-
-
-
1Loss-
TAAR5-
-
-
-
1Loss-
TAAR6-
-
-
-
1Loss-
TAAR8-
-
-
-
1Loss-
TAAR9-
-
-
-
1Loss-
TAB2-
-
-
-
1Loss-
TAC3-
-
-
-
1Loss-
TACC1-
-
-
-
3Gain-
TACC2-
-
-
-
1Loss-
TACR2-
-
-
-
1Loss-
TADA1-
-
-
-
3Gain-
TADA3-
-
-
-
1Loss-
TAF10-
-
-
-
1Loss-
TAF11-
-
-
-
1Loss-
TAF13-
-
-
-
1Loss-
TAF1C-
-
-
-
3Gain-
TAF1D-
-
-
-
1Loss-
TAF2-
-
-
-
4Gain-
TAF5-
-
-
-
1Loss-
TAF6L-
-
-
-
1Loss-
TAF8-
-
-
-
1Loss-
TAGLN-
-
-
-
1Loss-
TAGLN2-
-
-
-
3Gain-
TAGLN3-
-
-
-
4Gain-
TAL2-
-
-
-
3Gain-
TALDO1-
-
-
-
1Loss-
TAMM41-
-
-
-
1Loss-
TANGO6-
-
-
-
3Gain-
TAP1-
-
-
-
1Loss-
TAP2-
-
-
-
1Loss-
TAPBP-
-
-
-
1Loss-
TARBP2-
-
-
-
1Loss-
TARS2-
-
-
-
3Gain-
TAS2R1-
-
-
-
3Gain-
TATDN1-
-
-
-
4Gain-
TATDN2-
-
-
-
1Loss-
TAX1BP3-
-
-
-
1Loss-
TBATA-
-
-
-
1Loss-
TBC1D10C-
-
-
-
1Loss-
TBC1D12-
-
-
-
1Loss-
TBC1D15-
-
-
-
1Loss-
TBC1D2-
-
-
-
3Gain-
TBC1D22B-
-
-
-
1Loss-
TBC1D23-
-
-
-
4Gain-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D30-
-
-
-
1Loss-
TBC1D31-
-
-
-
4Gain-
TBC1D5-
-
-
-
1Loss-
TBC1D7-
-
-
-
1Loss-
TBC1D9-
-
-
-
3Gain-
TBC1D9B-
-
-
-
1Loss-
TBCC-
-
-
-
1Loss-
TBCCD1-
-
-
-
7Amp-
TBCD-
-
-
-
1Loss-
TBCEL-
-
-
-
1Loss-
TBK1-
-
-
-
1Loss-
TBL1XR1-
-
-
-
5Amp-
TBPL1-
-
-
-
1Loss-
TBPL2-
-
-
-
1Loss-
TBRG1-
-
-
-
1Loss-
TBX10-
-
-
-
1Loss-
TBX15-
-
-
-
1Loss-
TBX19-
-
-
-
3Gain-
TBX3-
-
-
-
1Loss-
TBX5-
-
-
-
1Loss-
TCAIM-
-
-
-
1Loss-
TCAP-
-
-
-
3Gain-
TCEA1-
-
-
-
3Gain-
TCERG1L-
-
-
-
1Loss-
TCF19-
-
-
-
1Loss-
TCF21-
-
-
-
1Loss-
TCF24-
-
-
-
3Gain-
TCF7L2-
-
-
-
1Loss-
TCHH-
-
-
-
3Gain-
TCHHL1-
-
-
-
3Gain-
TCHP-
-
-
-
1Loss-
TCIM-
-
-
-
3Gain-
TCIRG1-
-
-
-
1Loss-
TCN1-
-
-
-
1Loss-
TCP11-
-
-
-
1Loss-
TCP11L1-
-
-
-
1Loss-
TCP11L2-
-
-
-
1Loss-
TCTA-
-
-
-
1Loss-
TCTE1-
-
-
-
1Loss-
TCTEX1D1-
-
-
-
1Loss-
TCTEX1D2-
-
-
-
7Amp-
TCTN1-
-
-
-
1Loss-
TCTN3-
-
-
-
1Loss-
TDG-
-
-
-
1Loss-
TDGF1-
-
-
-
1Loss-
TDO2-
-
-
-
3Gain-
TDP2-
-
-
-
1Loss-
TDRD1-
-
-
-
1Loss-
TDRD10-
-
-
-
3Gain-
TDRD5-
-
-
-
3Gain-
TDRD6-
-
-
-
1Loss-
TDRD7-
-
-
-
3Gain-
TDRKH-
-
-
-
3Gain-
TDRP-
-
-
-
1Loss-
TEAD1-
-
-
-
1Loss-
TEAD3-
-
-
-
1Loss-
TECTA-
-
-
-
1Loss-
TECTB-
-
-
-
1Loss-
TEDDM1-
-
-
-
3Gain-
TEKT1-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TENM2-
-
-
-
1Loss-
TENM4-
-
-
-
1Loss-
TENT4A-
-
-
-
3Gain-
TENT5C-
-
-
-
1Loss-
TEP1-
-
-
-
1Loss-
TERF1-
-
-
-
3Gain-
TERF2IP-
-
-
-
1Loss-
TERT-
-
-
-
3Gain-
TESMIN-
-
-
-
1Loss-
TESPA1-
-
-
-
1Loss-
TET1-
-
-
-
1Loss-
TEX10-
-
-
-
3Gain-
TEX12-
-
-
-
1Loss-
TEX15-
-
-
-
1Loss-
TEX19-
-
-
-
1Loss-
TEX264-
-
-
-
1Loss-
TEX30-
-
-
-
1Loss-
TEX35-
-
-
-
3Gain-
TEX36-
-
-
-
1Loss-
TEX44-
-
-
-
1Loss-
TEX48-
-
-
-
3Gain-
TEX49-
-
-
-
1Loss-
TEX50-
-
-
-
3Gain-
TF-
-
-
-
5Amp-
TFAM-
-
-
-
1Loss-
TFAP2A-
-
-
-
1Loss-
TFAP2B-
-
-
-
1Loss-
TFAP2D-
-
-
-
1Loss-
TFCP2-
-
-
-
1Loss-
TFDP2-
-
-
-
5Amp-
TFEB-
-
-
-
1Loss-
TFG-
-
-
-
4Gain-
TFPI-
-
-
-
3Gain-
TFRC-
-
-
-
7Amp-
TG-
-
-
-
4Gain-
TGDS-
-
-
-
1Loss-
TGFB3-
-
-
-
1Loss-
TGFBR1-
-
-
-
3Gain-
TGFBR2-
-
-
-
1Loss-
TGFBR3-
-
-
-
1Loss-
TGM1-
-
-
-
1Loss-
TGM4-
-
-
-
1Loss-
TGS1-
-
-
-
3Gain-
TH-
-
-
-
1Loss-
THAP1-
-
-
-
3Gain-
THAP12-
-
-
-
1Loss-
THAP2-
-
-
-
1Loss-
THAP4-
-
-
-
1Loss-
THBS3-
-
-
-
3Gain-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEM6-
-
-
-
4Gain-
THOC1-
-
-
-
3Gain-
THOC3-
-
-
-
1Loss-
THOC7-
-
-
-
1Loss-
THPO-
-
-
-
7Amp-
THRA-
-
-
-
3Gain-
THRB-
-
-
-
1Loss-
THRSP-
-
-
-
1Loss-
THTPA-
-
-
-
5Amp-
THUMPD3-
-
-
-
1Loss-
THY1-
-
-
-
1Loss-
THYN1-
-
-
-
1Loss-
TIAL1-
-
-
-
1Loss-
TIGD4-
-
-
-
3Gain-
TIGD5-
-
-
-
4Gain-
TIGIT-
-
-
-
4Gain-
TIMELESS-
-
-
-
1Loss-
TIMM10B-
-
-
-
1Loss-
TIMM22-
-
-
-
1Loss-
TIMM23-
-
-
-
1Loss-
TIMM23B-
-
-
-
1Loss-
TIMM44p.L60V
Missense
SNP
0.579
2--
TIMM8B-
-
-
-
1Loss-
TIMM9-
-
-
-
1Loss-
TIMMDC1-
-
-
-
5Amp-
TIMP4-
-
-
-
1Loss-
TINAG-
-
-
-
1Loss-
TINF2-
-
-
-
1Loss-
TIPARP-
-
-
-
5Amp-
TIPRL-
-
-
-
3Gain-
TIRAP-
-
-
-
1Loss-
TJAP1-
-
-
-
1Loss-
TJP2-
-
-
-
3Gain-
TKFC-
-
-
-
1Loss-
TKT-
-
-
-
1Loss-
TKTL2-
-
-
-
3Gain-
TLCD2-
-
-
-
1Loss-
TLDC1-
-
-
-
3Gain-
TLE1-
-
-
-
3Gain-
TLE4-
-
-
-
3Gain-
TLL1-
-
-
-
3Gain-
TLL2-
-
-
-
1Loss-
TLR2-
-
-
-
3Gain-
TLR9-
-
-
-
1Loss-
TLX1-
-
-
-
1Loss-
TLX3-
-
-
-
1Loss-
TM2D2-
-
-
-
3Gain-
TM4SF1-
-
-
-
5Amp-
TM4SF18-
-
-
-
5Amp-
TM4SF19-
-
-
-
7Amp-
TM4SF19-TCTEX1D2-
-
-
-
7Amp-
TM4SF20-
-
-
-
3Gain-
TM4SF4-
-
-
-
5Amp-
TM4SF5-
-
-
-
1Loss-
TM9SF1-
-
-
-
1Loss-
TM9SF2-
-
-
-
1Loss-
TM9SF3-
-
-
-
1Loss-
TMA16-
-
-
-
3Gain-
TMA7-
-
-
-
1Loss-
TMBIM1-
-
-
-
3Gain-
TMBIM4-
-
-
-
1Loss-
TMBIM6-
-
-
-
1Loss-
TMC1-
-
-
-
3Gain-
TMCC1-
-
-
-
5Amp-
TMCC3-
-
-
-
1Loss-
TMCO1-
-
-
-
3Gain-
TMED10-
-
-
-
1Loss-
TMED5-
-
-
-
1Loss-
TMED8-
-
-
-
1Loss-
TMED9-
-
-
-
1Loss-
TMEFF1-
-
-
-
3Gain-
TMEFF2-
-
-
-
3Gain-
TMEM102-
-
-
-
1Loss-
TMEM106C-
-
-
-
1Loss-
TMEM107-
-
-
-
1Loss-
TMEM108-
-
-
-
5Amp-
TMEM109-
-
-
-
1Loss-
TMEM11-
-
-
-
1Loss-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM116-
-
-
-
1Loss-
TMEM117-
-
-
-
1Loss-
TMEM119-
-
-
-
1Loss-
TMEM123-
-
-
-
12Amp-
TMEM126A-
-
-
-
1Loss-
TMEM126B-
-
-
-
1Loss-
TMEM131L-
-
-
-
3Gain-
TMEM132A-
-
-
-
1Loss-
TMEM134-
-
-
-
1Loss-
TMEM135-
-
-
-
1Loss-
TMEM136-
-
-
-
1Loss-
TMEM138-
-
-
-
1Loss-
TMEM144-
-
-
-
3Gain-
TMEM14A-
-
-
-
1Loss-
TMEM14B-
-
-
-
1Loss-
TMEM14C-
-
-
-
1Loss-
TMEM151B-
-
-
-
1Loss-
TMEM154-
-
-
-
3Gain-
TMEM155-
-
-
-
3Gain-
TMEM158-
-
-
-
1Loss-
TMEM167B-
-
-
-
1Loss-
TMEM169-
-
-
-
3Gain-
TMEM170A-
-
-
-
1Loss-
TMEM170B-
-
-
-
1Loss-
TMEM179B-
-
-
-
1Loss-
TMEM184A-
-
-
-
1Loss-
TMEM184C-
-
-
-
3Gain-
TMEM19-
-
-
-
1Loss-
TMEM192-
-
-
-
3Gain-
TMEM198-
-
-
-
3Gain-
TMEM200A-
-
-
-
1Loss-
TMEM207-
-
-
-
7Amp-
TMEM212-
-
-
-
5Amp-
TMEM216-
-
-
-
1Loss-
TMEM217-
-
-
-
1Loss-
TMEM218-
-
-
-
1Loss-
TMEM220-
-
-
-
1Loss-
TMEM223-
-
-
-
1Loss-
TMEM225-
-
-
-
1Loss-
TMEM229B-
-
-
-
1Loss-
TMEM231-
-
-
-
1Loss-
TMEM237-
-
-
-
3Gain-
TMEM245-
-
-
-
3Gain-
TMEM246-
-
-
-
3Gain-
TMEM248-
-
-
-
1Loss-
TMEM249-
-
-
-
4Gain-
TMEM25-
-
-
-
1Loss-
TMEM252-
-
-
-
3Gain-
TMEM253-
-
-
-
1Loss-
TMEM254-
-
-
-
1Loss-
TMEM256-
-
-
-
1Loss-
TMEM256-PLSCR3-
-
-
-
1Loss-
TMEM258-
-
-
-
1Loss-
TMEM26-
-
-
-
1Loss-
TMEM260-
-
-
-
1Loss-
TMEM263-
-
-
-
1Loss-
TMEM268-
-
-
-
3Gain-
TMEM273-
-
-
-
1Loss-
TMEM30B-
-
-
-
1Loss-
TMEM38B-
-
-
-
3Gain-
TMEM39A-
-
-
-
5Amp-
TMEM40-
-
-
-
1Loss-
TMEM41A-
-
-
-
7Amp-
TMEM41B-
-
-
-
1Loss-
TMEM42-
-
-
-
1Loss-
TMEM43-
-
-
-
1Loss-
TMEM44-
-
-
-
7Amp-
TMEM45A-
-
-
-
4Gain-
TMEM45B-
-
-
-
1Loss-
TMEM56-
-
-
-
1Loss-
TMEM56-RWDD3-
-
-
-
1Loss-
TMEM63B-
-
-
-
1Loss-
TMEM63C-
-
-
-
1Loss-
TMEM64-
-
-
-
4Gain-
TMEM65-
-
-
-
4Gain-
TMEM67-
-
-
-
4Gain-
TMEM68-
-
-
-
3Gain-
TMEM70-
-
-
-
3Gain-
TMEM71-
-
-
-
4Gain-
TMEM72-
-
-
-
1Loss-
TMEM74-
-
-
-
4Gain-
TMEM79-
-
-
-
3Gain-
TMEM80-
-
-
-
1Loss-
TMEM86A-
-
-
-
1Loss-
TMEM88-
-
-
-
1Loss-
TMEM89-
-
-
-
1Loss-
TMEM95-
-
-
-
1Loss-
TMEM9B-
-
-
-
1Loss-
TMF1-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMIGD3-
-
-
-
1Loss-
TMOD1-
-
-
-
3Gain-
TMOD4-
-
-
-
3Gain-
TMPO-
-
-
-
1Loss-
TMPPE-
-
-
-
1Loss-
TMPRSS12-
-
-
-
1Loss-
TMPRSS13-
-
-
-
1Loss-
TMPRSS4-
-
-
-
1Loss-
TMPRSS5-
-
-
-
1Loss-
TMPRSS7-
-
-
-
4Gain-
TMTC2-
-
-
-
1Loss-
TMTC3-
-
-
-
1Loss-
TMTC4-
-
-
-
1Loss-
TMX1-
-
-
-
1Loss-
TNC-
-
-
-
3Gain-
TNF-
-
-
-
1Loss-
TNFAIP3-
-
-
-
1Loss-
TNFAIP8L2-
-
-
-
4Gain-
TNFRSF10A-
-
-
-
1Loss-
TNFRSF10B-
-
-
-
1Loss-
TNFRSF10C-
-
-
-
1Loss-
TNFRSF10D-
-
-
-
1Loss-
TNFRSF11B-
-
-
-
4Gain-
TNFRSF13B-
-
-
-
1Loss-
TNFRSF21-
-
-
-
1Loss-
TNFSF10-
-
-
-
5Amp-
TNFSF12-
-
-
-
1Loss-
TNFSF12-TNFSF13-
-
-
-
1Loss-
TNFSF13-
-
-
-
1Loss-
TNFSF13B-
-
-
-
1Loss-
TNFSF15-
-
-
-
3Gain-
TNFSF18-
-
-
-
3Gain-
TNFSF4-
-
-
-
3Gain-
TNFSF8-
-
-
-
3Gain-
TNIK-
-
-
-
5Amp-
TNIP3-
-
-
-
3Gain-
TNK1-
-
-
-
1Loss-
TNK2-
-
-
-
7Amp-
TNKS2-
-
-
-
1Loss-
TNN-
-
-
-
3Gain-
TNNC1-
-
-
-
1Loss-
TNNI2-
-
-
-
1Loss-
TNNI3K-
-
-
-
1Loss-
TNNT3-
-
-
-
1Loss-
TNP1-
-
-
-
3Gain-
TNR-
-
-
-
3Gain-
TNRC18-
-
-
-
3Gain-
TNS1-
-
-
-
3Gain-
TNS2-
-
-
-
1Loss-
TNS4-
-
-
-
3Gain-
TNXB-
-
-
-
1Loss-
TOGARAM1-
-
-
-
1Loss-
TOLLIP-
-
-
-
1Loss-
TOM1L2-
-
-
-
1Loss-
TOMM20L-
-
-
-
1Loss-
TOMM40L-
-
-
-
3Gain-
TOMM6-
-
-
-
1Loss-
TOMM70-
-
-
-
4Gain-
TONSL-
-
-
-
4Gain-
TOP1MT-
-
-
-
4Gain-
TOP2B-
-
-
-
1Loss-
TOP3A-
-
-
-
1Loss-
TOPAZ1-
-
-
-
1Loss-
TOPBP1-
-
-
-
5Amp-
TOR1AIP1-
-
-
-
3Gain-
TOR1AIP2-
-
-
-
3Gain-
TOR3A-
-
-
-
3Gain-
TOX-
-
-
-
3Gain-
TOX4-
-
-
-
1Loss-
TP53-
-
-
-
1Loss-
TP53AIP1-
-
-
-
1Loss-
TP53I11-
-
-
-
1Loss-
TP53INP1-
-
-
-
4Gain-
TP63-
-
-
-
18Amp-
TPBGL-
-
-
-
1Loss-
TPCN1-
-
-
-
1Loss-
TPCN2-
-
-
-
7Amp-
TPD52-
-
-
-
3Gain-
TPD52L3-
-
-
-
1Loss-
TPH1-
-
-
-
1Loss-
TPH2-
-
-
-
1Loss-
TPM3-
-
-
-
3Gain-
TPMT-
-
-
-
1Loss-
TPP1-
-
-
-
1Loss-
TPP2-
-
-
-
1Loss-
TPPP-
-
-
-
3Gain-
TPPP2-
-
-
-
1Loss-
TPR-
-
-
-
3Gain-
TPRA1-
-
-
-
5Amp-
TPRG1-
-
-
-
18AmpMECOM--TPRG1
TPST1-
-
-
-
1Loss-
TPTE-
-
-
-
1Loss-
TRA2B-
-
-
-
7Amp-
TRAF3IP1-
-
-
-
1Loss-
TRAF6-
-
-
-
1Loss-
TRAF7-
-
-
-
3Gain-
TRAFD1-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRAK2-
-
-
-
3Gain-
TRAM1L1-
-
-
-
3Gain-
TRAM2-
-
-
-
1Loss-
TRANK1-
-
-
-
1Loss-
TRAPPC1-
-
-
-
1Loss-
TRAPPC2L-
-
-
-
1Loss-
TRAPPC3L-
-
-
-
3Gain-
TRAPPC4-
-
-
-
1Loss-
TRAPPC6B-
-
-
-
1Loss-
TRAPPC9-
-
-
-
4Gain-
TRARG1-
-
-
-
1Loss-
TRAT1-
-
-
-
4Gain-
TRDV1-
-
-
-
3Gain-
TREH-
-
-
-
1Loss-
TREM1-
-
-
-
1Loss-
TREM2-
-
-
-
1Loss-
TREML1-
-
-
-
1Loss-
TREML2-
-
-
-
1Loss-
TREML4-
-
-
-
1Loss-
TRERF1-
-
-
-
1Loss-
TREX1-
-
-
-
1Loss-
TRH-
-
-
-
5Amp-
TRHDE-
-
-
-
1Loss-
TRHR-
-
-
-
4Gain-
TRIB1-
-
-
-
4Gain-
TRIM10-
-
-
-
1Loss-
TRIM14-
-
-
-
3Gain-
TRIM15-
-
-
-
1Loss-
TRIM16-
-
-
-
1Loss-
TRIM16L-
-
-
-
1Loss-
TRIM2-
-
-
-
3Gain-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM26-
-
-
-
1Loss-
TRIM27-
-
-
-
1Loss-
TRIM29-
-
-
-
1Loss-
TRIM3-
-
-
-
1Loss-
TRIM31-
-
-
-
1Loss-
TRIM33-
-
-
-
1Loss-
TRIM35-
-
-
-
1Loss-
TRIM38-
-
-
-
1Loss-
TRIM39-
-
-
-
1Loss-
TRIM39-RPP21-
-
-
-
1Loss-
TRIM40-
-
-
-
1Loss-
TRIM41-
-
-
-
1Loss-
TRIM42-
-
-
-
5Amp-
TRIM44-
-
-
-
1Loss-
TRIM45-
-
-
-
1Loss-
TRIM46-
-
-
-
3Gain-
TRIM49-
-
-
-
1Loss-
TRIM49B-
-
-
-
1Loss-
TRIM49C-
-
-
-
1Loss-
TRIM49D1-
-
-
-
1Loss-
TRIM49D2-
-
-
-
1Loss-
TRIM5-
-
-
-
1Loss-
TRIM51-
-
-
-
1Loss-
TRIM51GP-
-
-
-
1Loss-
TRIM52-
-
-
-
1Loss-
TRIM55-
-
-
-
3Gain-
TRIM59-
-
-
-
5Amp-
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM60-
-
-
-
3Gain-
TRIM61-
-
-
-
3Gain-
TRIM64B-
-
-
-
1Loss-
TRIM64C-
-
-
-
1Loss-
TRIM66-
-
-
-
1Loss-
TRIM68-
-
-
-
1Loss-
TRIM7-
-
-
-
1Loss-
TRIM71-
-
-
-
1Loss-
TRIM75P-
-
-
-
3Gain-
TRIM77-
-
-
-
1Loss-
TRIM8-
-
-
-
1Loss-
TRIM9-
-
-
-
1Loss-
TRIO-
-
-
-
3Gain-
TRIP12-
-
-
-
1Loss-
TRIP13-
-
-
-
3Gain-
TRIQK-
-
-
-
4Gain-
TRMO-
-
-
-
3Gain-
TRMT10C-
-
-
-
4Gain-
TRMT112-
-
-
-
1Loss-
TRMT12-
-
-
-
4Gain-
TRMT13-
-
-
-
1Loss-
TRMT1L-
-
-
-
3Gain-
TRMT5-
-
-
-
1Loss-
TRNT1-
-
-
-
1Loss-
TROAP-
-
-
-
1Loss-
TROVE2-
-
-
-
3Gain-
TRPA1-
-
-
-
3Gain-
TRPC1-
-
-
-
5Amp-
TRPC3-
-
-
-
3Gain-
TRPC6-
-
-
-
12Amp-
TRPM3-
-
-
-
3Gain-
TRPM5-
-
-
-
1Loss-
TRPM6-
-
-
-
3Gain-
TRPM8-
-
-
-
1Loss-
TRPS1-
-
-
-
4Gain-
TRPT1-
-
-
-
1Loss-
TRPV1-
-
-
-
1Loss-
TRPV2-
-
-
-
1Loss-
TRPV3-
-
-
-
1Loss-
TRPV4-
-
-
-
1Loss-
TRUB1-
-
-
-
1Loss-
TSACC-
-
-
-
3Gain-
TSC22D2-
-
-
-
5Amp-
TSEN15-
-
-
-
3Gain-
TSEN2-
-
-
-
1Loss-
TSFM-
-
-
-
1Loss-
TSG101-
-
-
-
1Loss-
TSHB-
-
-
-
1Loss-
TSHR-
-
-
-
1Loss-
TSKU-
-
-
-
1Loss-
TSNARE1-
-
-
-
4Gain-
TSPAN14-
-
-
-
1Loss-
TSPAN15-
-
-
-
1Loss-
TSPAN17-
-
-
-
1Loss-
TSPAN18-
-
-
-
1Loss-
TSPAN19-
-
-
-
1Loss-
TSPAN2-
-
-
-
1Loss-
TSPAN31-
-
-
-
1Loss-
TSPAN32-
-
-
-
1Loss-
TSPAN4-
-
-
-
1Loss-
TSPAN8-
-
-
-
1Loss-
TSPO2-
-
-
-
1Loss-
TSPYL5-
-
-
-
4Gain-
TSR1-
-
-
-
1Loss-
TSSC4-
-
-
-
1Loss-
TSSK4-
-
-
-
1Loss-
TSTA3-
-
-
-
4Gain-
TSTD1-
-
-
-
3Gain-
TSTD2-
-
-
-
3Gain-
TTBK1-
-
-
-
1Loss-
TTC1-
-
-
-
1Loss-
TTC12-
-
-
-
1Loss-
TTC14-
-
-
-
7Amp-
TTC17-
-
-
-
1Loss-
TTC19-
-
-
-
1Loss-
TTC21A-
-
-
-
1Loss-
TTC24-
-
-
-
3Gain-
TTC29-
-
-
-
3Gain-
TTC30A-
-
-
-
3Gain-
TTC30B-
-
-
-
3Gain-
TTC36-
-
-
-
1Loss-
TTC5-
-
-
-
1Loss-
TTC6-
-
-
-
1Loss-
TTC9-
-
-
-
1Loss-
TTC9C-
-
-
-
1Loss-
TTF2-
-
-
-
1Loss-
TTI2-
-
-
-
3Gain-
TTLL3-
-
-
-
1Loss-
TTLL4-
-
-
-
3Gain-
TTLL5-
-
-
-
1Loss-
TTLL7-
-
-
-
1Loss-
TTN-
-
-
-
3Gain-
TTPA-
-
-
-
3Gain-
TTYH3-
-
-
-
3Gain-
TUB-
-
-
-
1Loss-
TUBA1A-
-
-
-
1Loss-
TUBA1B-
-
-
-
1Loss-
TUBA1C-
-
-
-
1Loss-
TUBA4A-
-
-
-
3Gain-
TUBA4B-
-
-
-
3Gain-
TUBB-
-
-
-
1Loss-
TUBB2A-
-
-
-
1Loss-
TUBB2B-
-
-
-
1Loss-
TUBGCP2-
-
-
-
1Loss-
TUFT1-
-
-
-
3Gain-
TULP1-
-
-
-
1Loss-
TUSC2-
-
-
-
1Loss-
TUT1-
-
-
-
1Loss-
TUT7-
-
-
-
3Gain-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF1-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TWIST2-
-
-
-
1Loss-
TWNK-
-
-
-
1Loss-
TXLNB-
-
-
-
1Loss-
TXN-
-
-
-
3Gain-
TXNDC16-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNDC5-
-
-
-
1Loss-
TXNDC8-
-
-
-
3Gain-
TXNIP-
-
-
-
3Gain-
TXNRD1-
-
-
-
1Loss-
TXNRD3-
-
-
-
5Amp-
TYMS-
-
-
-
3Gain-
TYR-
-
-
-
1Loss-
TYRO3-
-
-
-
3Gain-
TYSND1-
-
-
-
1Loss-
TYW1-
-
-
-
1Loss-
TYW3-
-
-
-
1Loss-
TYW5-
-
-
-
3Gain-
U2AF1L5-
-
-
-
1Loss-
U2SURP-
-
-
-
5Amp-
UAP1-
-
-
-
3Gain-
UBA3-
-
-
-
1Loss-
UBA5-
-
-
-
5Amp-
UBA7-
-
-
-
1Loss-
UBAC2-
-
-
-
1Loss-
UBAP2L-
-
-
-
3Gain-
UBASH3B-
-
-
-
1Loss-
UBB-
-
-
-
1Loss-
UBD-
-
-
-
1Loss-
UBE2D1-
-
-
-
1Loss-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2E3-
-
-
-
3Gain-
UBE2F-
-
-
-
1Loss-
UBE2F-SCLY-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2N-
-
-
-
1Loss-
UBE2Q1-
-
-
-
3Gain-
UBE2QL1-
-
-
-
3Gain-
UBE2V2-
-
-
-
3Gain-
UBE2W-
-
-
-
3Gain-
UBE3B-
-
-
-
1Loss-
UBE4A-
-
-
-
1Loss-
UBL4B-
-
-
-
1Loss-
UBLCP1-
-
-
-
1Loss-
UBP1-
-
-
-
1Loss-
UBQLN1-
-
-
-
3Gain-
UBQLN3-
-
-
-
1Loss-
UBQLN4-
-
-
-
3Gain-
UBQLNL-
-
-
-
1Loss-
UBR2-
-
-
-
1Loss-
UBR5-
-
-
-
4Gain-
UBTD1-
-
-
-
1Loss-
UBTD2-
-
-
-
1Loss-
UBTFL1-
-
-
-
1Loss-
UBXN1-
-
-
-
1Loss-
UBXN2B-
-
-
-
3Gain-
UBXN7-
-
-
-
7Amp-
UBXN8-
-
-
-
1Loss-
UCHL5-
-
-
-
3Gain-
UCK2-
-
-
-
3Gain-
UCN2-
-
-
-
1Loss-
UCP1-
-
-
-
3Gain-
UCP2-
-
-
-
1Loss-
UCP3-
-
-
-
1Loss-
UEVLD-
-
-
-
1Loss-
UFC1-
-
-
-
3Gain-
UGCG-
-
-
-
3Gain-
UGGT2-
-
-
-
1Loss-
UGT1A1-
-
-
-
1Loss-
UGT1A10-
-
-
-
1Loss-
UGT1A3-
-
-
-
1Loss-
UGT1A4-
-
-
-
1Loss-
UGT1A5-
-
-
-
1Loss-
UGT1A6-
-
-
-
1Loss-
UGT1A7-
-
-
-
1Loss-
UGT1A8-
-
-
-
1Loss-
UGT1A9-
-
-
-
1Loss-
UGT8-
-
-
-
3Gain-
UHMK1-
-
-
-
3Gain-
UHRF1BP1-
-
-
-
1Loss-
UHRF1BP1L-
-
-
-
1Loss-
UHRF2-
-
-
-
1Loss-
UIMC1-
-
-
-
1Loss-
ULBP1-
-
-
-
1Loss-
ULBP2-
-
-
-
1Loss-
ULBP3-
-
-
-
1Loss-
ULK2-
-
-
-
1Loss-
ULK4-
-
-
-
1Loss-
UMAD1-
-
-
-
3Gain-
UMPS-
-
-
-
5Amp-
UNC5A-
-
-
-
1Loss-
UNC5B-
-
-
-
1Loss-
UNC5CL-
-
-
-
1Loss-
UNC5D-
-
-
-
3Gain-
UNC80-
-
-
-
3Gain-
UNC93B1-
-
-
-
1Loss-
UNCX-
-
-
-
1Loss-
UNG-
-
-
-
1Loss-
UPK1B-
-
-
-
5Amp-
UPK2-
-
-
-
1Loss-
UQCC2-
-
-
-
1Loss-
UQCC3-
-
-
-
1Loss-
UQCRB-
-
-
-
4Gain-
UQCRC1-
-
-
-
1Loss-
UROC1-
-
-
-
5Amp-
UROS-
-
-
-
1Loss-
USF1-
-
-
-
3Gain-
USF3-
-
-
-
4Gain-
USH1C-
-
-
-
1Loss-
USP13-
-
-
-
5Amp-
USP14-
-
-
-
3Gain-
USP15-
-
-
-
1Loss-
USP19-
-
-
-
1Loss-
USP2-
-
-
-
1Loss-
USP21-
-
-
-
3Gain-
USP22-
-
-
-
1Loss-
USP28-
-
-
-
1Loss-
USP30-
-
-
-
1Loss-
USP33-
-
-
-
1Loss-
USP35-
-
-
-
1Loss-
USP37-
-
-
-
3Gain-
USP38-
-
-
-
3Gain-
USP4-
-
-
-
1Loss-
USP40-
-
-
-
1Loss-
USP42-
-
-
-
3Gain-
USP43-
-
-
-
1Loss-
USP44-
-
-
-
1Loss-
USP47-
-
-
-
1Loss-
USP49-
-
-
-
1Loss-
USP53-
-
-
-
3Gain-
USP54-
-
-
-
1Loss-
USP6-
-
-
-
1Loss-
UST-
-
-
-
1Loss-
UTF1-
-
-
-
1Loss-
UTP20-
-
-
-
1Loss-
UTP23-
-
-
-
4Gain-
UTRN-
-
-
-
1Loss-
UTS2B-
-
-
-
7Amp-
UTS2R-
-
-
-
1Loss-
UVRAG-
-
-
-
1Loss-
VAMP2-
-
-
-
1Loss-
VAMP4-
-
-
-
3Gain-
VANGL1-
-
-
-
1Loss-
VANGL2-
-
-
-
3Gain-
VARS-
-
-
-
1Loss-
VARS2-
-
-
-
1Loss-
VASH1-
-
-
-
1Loss-
VAT1L-
-
-
-
1Loss-
VAV3-
-
-
-
1Loss-
VAX1-
-
-
-
1Loss-
VCAM1-
-
-
-
1Loss-
VCL-
-
-
-
1Loss-
VCPIP1-
-
-
-
3Gain-
VDAC2-
-
-
-
1Loss-
VDAC3-
-
-
-
3Gain-
VDR-
-
-
-
1Loss-
VEGFA-
-
-
-
1Loss-
VEGFB-
-
-
-
1Loss-
VENTX-
-
-
-
1Loss-
VEPH1-
-
-
-
5Amp-
VEZT-
-
-
-
1Loss-
VGLL3-
-
-
-
1Loss-
VGLL4-
-
-
-
1Loss-
VHL-
-
-
-
1Loss-
VHLL-
-
-
-
3Gain-
VIL1-
-
-
-
3Gain-
VILL-
-
-
-
1Loss-
VIPAS39-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VIRMA-
-
-
-
4Gain-
VLDLR-
-
-
-
1Loss-
VMO1-
-
-
-
1Loss-
VNN1-
-
-
-
1Loss-
VNN2-
-
-
-
1Loss-
VNN3-
-
-
-
1Loss-
VPS11-
-
-
-
1Loss-
VPS13A-
-
-
-
3Gain-
VPS13B-
-
-
-
4Gain-
VPS26A-
-
-
-
1Loss-
VPS26B-
-
-
-
1Loss-
VPS28-
-
-
-
4Gain-
VPS29-
-
-
-
1Loss-
VPS37A-
-
-
-
1Loss-
VPS37C-
-
-
-
1Loss-
VPS45-
-
-
-
3Gain-
VPS52-
-
-
-
1Loss-
VPS53-
-
-
-
1Loss-
VPS72-
-
-
-
3Gain-
VPS8-
-
-
-
7Amp-
VRTN-
-
-
-
1Loss-
VSIG10L2-
-
-
-
1Loss-
VSIG2-
-
-
-
1Loss-
VSIG8-
-
-
-
3Gain-
VSIR-
-
-
-
1Loss-
VSTM4-
-
-
-
1Loss-
VSTM5-
-
-
-
1Loss-
VSX2-
-
-
-
1Loss-
VTA1-
-
-
-
1Loss-
VTCN1-
-
-
-
1Loss-
VTI1A-
-
-
-
1Loss-
VTI1B-
-
-
-
1Loss-
VWA2-
-
-
-
1Loss-
VWA5A-
-
-
-
1Loss-
VWA5B2-
-
-
-
7Amp-
VWA7-
-
-
-
1Loss-
VWC2L-
-
-
-
3Gain-
VWCE-
-
-
-
1Loss-
VXN-
-
-
-
3Gain-
WAPL-
-
-
-
1Loss-
WARS2-
-
-
-
1Loss-
WASHC2A-
-
-
-
1Loss-
WASHC2C-
-
-
-
1Loss-
WASHC3-
-
-
-
1Loss-
WASHC4-
-
-
-
1Loss-
WASHC5-
-
-
-
4Gain-
WBP1L-
-
-
-
1Loss-
WDFY1-
-
-
-
3Gain-
WDFY4-
-
-
-
1Loss-
WDHD1-
-
-
-
1Loss-
WDR11-
-
-
-
1Loss-
WDR12-
-
-
-
3Gain-
WDR3-
-
-
-
1Loss-
WDR31-
-
-
-
3Gain-
WDR45B-
-
-
-
1Loss-
WDR46-
-
-
-
1Loss-
WDR47-
-
-
-
1Loss-
WDR48-
-
-
-
1Loss-
WDR49-
-
-
-
5Amp-
WDR5-
-
-
-
2-WDR5--RXRA
WDR53-
-
-
-
7Amp-
WDR5B-
-
-
-
5Amp-
WDR6-
-
-
-
1Loss-
WDR63-
-
-
-
1Loss-
WDR74-
-
-
-
1Loss-
WDR75-
-
-
-
3Gain-
WDR77-
-
-
-
1Loss-
WDR78-
-
-
-
1Loss-
WDR81-
-
-
-
1Loss-
WDR82-
-
-
-
1Loss-
WDR89-
-
-
-
1Loss-
WDR97-
-
-
-
4Gain-
WDYHV1-
-
-
-
4Gain-
WEE1-
-
-
-
1Loss-
WFDC1-
-
-
-
3Gain-
WHRN-
-
-
-
3Gain-
WIF1-
-
-
-
1Loss-
WIPF1-
-
-
-
3Gain-
WIPI2-
-
-
-
3Gain-
WISP1-
-
-
-
4Gain-
WLS-
-
-
-
1Loss-
WNK2-
-
-
-
3Gain-
WNT1-
-
-
-
1Loss-
WNT10A-
-
-
-
3Gain-
WNT10B-
-
-
-
1Loss-
WNT11-
-
-
-
1Loss-
WNT2B-
-
-
-
1Loss-
WNT5A-
-
-
-
1Loss-
WNT6-
-
-
-
3Gain-
WNT7A-
-
-
-
1Loss-
WNT8B-
-
-
-
1Loss-
WRAP53-
-
-
-
1Loss-
WRN-
-
-
-
1Loss-
WRNIP1-
-
-
-
1Loss-
WSCD1-
-
-
-
1Loss-
WSCD2-
-
-
-
1Loss-
WT1-
-
-
-
1Loss-
WWC1-
-
-
-
1Loss-
WWOX-
-
-
-
1Loss-
WWP1-
-
-
-
4Gain-
WWTR1-
-
-
-
5Amp-
XAF1-
-
-
-
1Loss-
XCL1-
-
-
-
3Gain-
XCL2-
-
-
-
3Gain-
XCR1-
-
-
-
1Loss-
XIRP1-
-
-
-
1Loss-
XKR4-
-
-
-
3Gain-
XPA-
-
-
-
3Gain-
XPC-
-
-
-
1Loss-
XPNPEP1-
-
-
-
1Loss-
XPO5-
-
-
-
1Loss-
XPO7-
-
-
-
1LossXPO7--C9orf85
XPOT-
-
-
-
1Loss-
XPR1-
-
-
-
3Gain-
XRCC5-
-
-
-
3Gain-
XRN1-
-
-
-
5Amp-
XRRA1-
-
-
-
1Loss-
XXYLT1-
-
-
-
7Amp-
XYLB-
-
-
-
1Loss-
YAF2-
-
-
-
1Loss-
YAP1-
-
-
-
12Amp-
YBX2-
-
-
-
1Loss-
YEATS2-
-
-
-
7Amp-
YEATS4-
-
-
-
1Loss-
YES1-
-
-
-
3Gain-
YIPF3-
-
-
-
1Loss-
YLPM1-
-
-
-
1Loss-
YTHDF3-
-
-
-
3Gain-
YWHAE-
-
-
-
1Loss-
YWHAZ-
-
-
-
4Gain-
YY1AP1-
-
-
-
3Gain-
Z84492.1-
-
-
-
1Loss-
ZBBX-
-
-
-
5Amp-
ZBED2-
-
-
-
4Gain-
ZBED5-
-
-
-
1Loss-
ZBED8-
-
-
-
1Loss-
ZBED9-
-
-
-
1Loss-
ZBTB1-
-
-
-
1Loss-
ZBTB10-
-
-
-
3Gain-
ZBTB11-
-
-
-
4Gain-
ZBTB12-
-
-
-
1Loss-
ZBTB16-
-
-
-
1Loss-
ZBTB2-
-
-
-
1Loss-
ZBTB20-
-
-
-
4Gain-
ZBTB22-
-
-
-
1Loss-
ZBTB25-
-
-
-
1Loss-
ZBTB3-
-
-
-
1Loss-
ZBTB37-
-
-
-
3Gain-
ZBTB38-
-
-
-
5Amp-
ZBTB39-
-
-
-
1Loss-
ZBTB4-
-
-
-
1Loss-
ZBTB44-
-
-
-
1Loss-
ZBTB47-
-
-
-
1Loss-
ZBTB7B-
-
-
-
3Gain-
ZBTB9-
-
-
-
1Loss-
ZC2HC1A-
-
-
-
3Gain-
ZC2HC1B-
-
-
-
1Loss-
ZC2HC1C-
-
-
-
1Loss-
ZC3H10-
-
-
-
1Loss-
ZC3H12C-
-
-
-
1Loss-
ZC3H12D-
-
-
-
1Loss-
ZC3H15-
-
-
-
3Gain-
ZC3H18-
-
-
-
1Loss-
ZC3H3-
-
-
-
4Gain-
ZCCHC24-
-
-
-
1Loss-
ZCRB1-
-
-
-
1Loss-
ZCWPW2-
-
-
-
1Loss-
ZDBF2-
-
-
-
3Gain-
ZDHHC11-
-
-
-
3Gain-
ZDHHC11B-
-
-
-
3Gain-
ZDHHC13-
-
-
-
1Loss-
ZDHHC16-
-
-
-
1Loss-
ZDHHC17-
-
-
-
1Loss-
ZDHHC19-
-
-
-
7Amp-
ZDHHC2-
-
-
-
1Loss-
ZDHHC22-
-
-
-
1Loss-
ZDHHC23-
-
-
-
4Gain-
ZDHHC3-
-
-
-
1Loss-
ZDHHC4-
-
-
-
3Gain-
ZDHHC6-
-
-
-
1Loss-
ZFAND1-
-
-
-
3Gain-
ZFAND2A-
-
-
-
1Loss-
ZFAND2B-
-
-
-
3Gain-
ZFAND3-
-
-
-
1Loss-
ZFAND4-
-
-
-
1Loss-
ZFAND5-
-
-
-
3Gain-
ZFAT-
-
-
-
4Gain-
ZFC3H1-
-
-
-
1Loss-
ZFHX2-
-
-
-
5Amp-
ZFHX4-
-
-
-
3Gain-
ZFP1-
-
-
-
1Loss-
ZFP2-
-
-
-
1Loss-
ZFP3-
-
-
-
1Loss-
ZFP36L1-
-
-
-
1Loss-
ZFP37-
-
-
-
3Gain-
ZFP41-
-
-
-
4Gain-
ZFP57-
-
-
-
1Loss-
ZFP62-
-
-
-
1Loss-
ZFPM1-
-
-
-
1Loss-
ZFPM2-
-
-
-
4Gain-
ZFYVE1-
-
-
-
1Loss-
ZFYVE26-
-
-
-
1Loss-
ZFYVE27-
-
-
-
1Loss-
ZHX1-
-
-
-
4Gain-
ZHX1-C8orf76-
-
-
-
4Gain-
ZHX2-
-
-
-
4Gain-
ZIC1-
-
-
-
5Amp-
ZIC2-
-
-
-
1Loss-
ZIC4-
-
-
-
5Amp-
ZIC5-
-
-
-
1Loss-
ZKSCAN3-
-
-
-
1Loss-
ZKSCAN4-
-
-
-
1Loss-
ZKSCAN7-
-
-
-
1Loss-
ZKSCAN8-
-
-
-
1Loss-
ZMAT3-
-
-
-
5Amp-
ZMAT4-
-
-
-
3Gain-
ZMIZ1-
-
-
-
1Loss-
ZMYND10-
-
-
-
1Loss-
ZMYND15-
-
-
-
1Loss-
ZNF12-
-
-
-
3Gain-
ZNF142-
-
-
-
3Gain-
ZNF143-
-
-
-
1Loss-
ZNF148-
-
-
-
5Amp-
ZNF16-
-
-
-
4Gain-
ZNF165-
-
-
-
1Loss-
ZNF169-
-
-
-
3Gain-
ZNF18-
-
-
-
1Loss-
ZNF184-
-
-
-
1Loss-
ZNF189-
-
-
-
3Gain-
ZNF195-
-
-
-
1Loss-
ZNF197-
-
-
-
1Loss-
ZNF202-
-
-
-
1Loss-
ZNF214-
-
-
-
1Loss-
ZNF215-
-
-
-
1Loss-
ZNF219-
-
-
-
1Loss-
ZNF22-
-
-
-
1Loss-
ZNF232-
-
-
-
1Loss-
ZNF239-
-
-
-
1Loss-
ZNF250-
-
-
-
4Gain-
ZNF251-
-
-
-
4Gain-
ZNF283p.H425N
Missense
SNP
0.446
2--
ZNF286A-
-
-
-
1Loss-
ZNF286B-
-
-
-
1Loss-
ZNF287-
-
-
-
1Loss-
ZNF311-
-
-
-
1Loss-
ZNF318-
-
-
-
1Loss-
ZNF32-
-
-
-
1Loss-
ZNF322-
-
-
-
1Loss-
ZNF326-
-
-
-
1Loss-
ZNF330-
-
-
-
3Gain-
ZNF33B-
-
-
-
1Loss-
ZNF34-
-
-
-
4Gain-
ZNF346-
-
-
-
1Loss-
ZNF35-
-
-
-
1Loss-
ZNF354A-
-
-
-
1Loss-
ZNF354B-
-
-
-
1Loss-
ZNF354C-
-
-
-
1Loss-
ZNF365-
-
-
-
1Loss-
ZNF367-
-
-
-
3Gain-
ZNF385A-
-
-
-
1Loss-
ZNF385B-
-
-
-
3Gain-
ZNF385D-
-
-
-
1Loss-
ZNF391-
-
-
-
1Loss-
ZNF395-
-
-
-
1Loss-
ZNF408-
-
-
-
1Loss-
ZNF410-
-
-
-
1Loss-
ZNF445-
-
-
-
1Loss-
ZNF454-
-
-
-
1Loss-
ZNF462-
-
-
-
3Gain-
ZNF469-
-
-
-
1Loss-
ZNF483-
-
-
-
3Gain-
ZNF484-
-
-
-
3Gain-
ZNF485-
-
-
-
1Loss-
ZNF487-
-
-
-
1Loss-
ZNF488-
-
-
-
1Loss-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF503-
-
-
-
1Loss-
ZNF510-
-
-
-
3Gain-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF517-
-
-
-
4Gain-
ZNF518A-
-
-
-
1Loss-
ZNF572-
-
-
-
4Gain-
ZNF589-
-
-
-
1Loss-
ZNF594-
-
-
-
1Loss-
ZNF596-
-
-
-
1Loss-
ZNF618-
-
-
-
3Gain-
ZNF619-
-
-
-
1Loss-
ZNF620-
-
-
-
1Loss-
ZNF621-
-
-
-
1Loss-
ZNF622-
-
-
-
3Gain-
ZNF623-
-
-
-
4Gain-
ZNF624-
-
-
-
1Loss-
ZNF639-
-
-
-
5Amp-
ZNF641-
-
-
-
1Loss-
ZNF644-
-
-
-
1Loss-
ZNF648-
-
-
-
3Gain-
ZNF654-
-
-
-
1Loss-
ZNF658-
-
-
-
3Gain-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF687-
-
-
-
3Gain-
ZNF696-
-
-
-
4Gain-
ZNF697-
-
-
-
1Loss-
ZNF7-
-
-
-
4Gain-
ZNF703-
-
-
-
3Gain-
ZNF704-
-
-
-
3Gain-
ZNF706-
-
-
-
4Gain-
ZNF707-
-
-
-
4Gain-
ZNF717-
-
-
-
1Loss-
ZNF740-
-
-
-
1Loss-
ZNF750-
-
-
-
1Loss-
ZNF76-
-
-
-
1Loss-
ZNF782-
-
-
-
3Gain-
ZNF80-
-
-
-
4Gain-
ZNF804A-
-
-
-
3Gain-
ZNF827-
-
-
-
3Gain-
ZNF852-
-
-
-
1Loss-
ZNF853-
-
-
-
3Gain-
ZNF860-
-
-
-
1Loss-
ZNF879-
-
-
-
1Loss-
ZNF883-
-
-
-
3Gain-
ZNHIT6-
-
-
-
1Loss-
ZNRD1-
-
-
-
1Loss-
ZP1-
-
-
-
1Loss-
ZPLD1-
-
-
-
4Gain-
ZPR1-
-
-
-
1Loss-
ZRANB1-
-
-
-
1Loss-
ZRANB2-
-
-
-
1Loss-
ZSCAN12-
-
-
-
1Loss-
ZSCAN16-
-
-
-
1Loss-
ZSCAN23-
-
-
-
1Loss-
ZSCAN26-
-
-
-
1Loss-
ZSCAN31-
-
-
-
1Loss-
ZSCAN9-
-
-
-
1Loss-
ZSWIM2-
-
-
-
3Gain-
ZSWIM7-
-
-
-
1Loss-
ZSWIM8-
-
-
-
1Loss-
ZUP1-
-
-
-
3Gain-
ZW10-
-
-
-
1Loss-
ZWINT-
-
-
-
1Loss-
ZXDC-
-
-
-
5Amp-
ZZEF1-
-
-
-
1Loss-