PDMR-593322~323-R~AT5-P0

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A1BG-
-
-
-
3Gain-
A1CF-
-
-
-
1Loss-
AAAS-
-
-
-
1Loss-
AADACL3-
-
-
-
1Loss-
AADACL4-
-
-
-
1Loss-
AADAT-
-
-
-
1Loss-
AAGAB-
-
-
-
1Loss-
AAMP-
-
-
-
1Loss-
AARS-
-
-
-
1Loss-
AASDH-
-
-
-
3Gain-
AASS-
-
-
-
1Loss-
ABAT-
-
-
-
3Gain-
ABCA1-
-
-
-
3Gain-
ABCA12-
-
-
-
1Loss-
ABCA13-
-
-
-
1Loss-
ABCA3-
-
-
-
1Loss-
ABCA7-
-
-
-
1Loss-
ABCB5-
-
-
-
3Gain-
ABCB6-
-
-
-
1Loss-
ABCC1p.V409G
Missense
SNP
0.312
3Gain-
ABCC11-
-
-
-
1Loss-
ABCC12-
-
-
-
1Loss-
ABCC2-
-
-
-
1Loss-
ABCC6-
-
-
-
3Gain-
ABCC8-
-
-
-
1Loss-
ABCG2-
-
-
-
1Loss-
ABHD12-
-
-
-
1Loss-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD16B-
-
-
-
3Gain-
ABHD17A-
-
-
-
1Loss-
ABHD17B-
-
-
-
3Gain-
ABHD17C-
-
-
-
1Loss-
ABHD2-
-
-
-
1Loss-
ABHD3-
-
-
-
6Amp-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABHD8-
-
-
-
1Loss-
ABI2-
-
-
-
1Loss-
ABL2-
-
-
-
1Loss-
ABLIM1-
-
-
-
1Loss-
ABLIM2-
-
-
-
1Loss-
ABLIM3-
-
-
-
1Loss-
ABR-
-
-
-
1Loss-
ABRAXAS1-
-
-
-
1Loss-
ABRAXAS2-
-
-
-
1Loss-
AC002310.4-
-
-
-
3Gain-
AC002310.5-
-
-
-
3Gain-
AC002985.1-
-
-
-
1Loss-
AC003688.1-
-
-
-
1Loss-
AC004080.3-
-
-
-
1Loss-
AC004593.3-
-
-
-
1Loss-
AC004691.2-
-
-
-
1Loss-
AC004754.1-
-
-
-
1Loss-
AC004922.1-
-
-
-
1Loss-
AC004951.4-
-
-
-
NDNDAKNA--AC004951.4
AC005020.2-
-
-
-
1Loss-
AC005154.5-
-
-
-
1Loss-
AC005258.1-
-
-
-
1Loss-
AC005324.3-
-
-
-
1Loss-
AC005324.4-
-
-
-
1Loss-
AC005779.2-
-
-
-
1Loss-
AC005832.4-
-
-
-
3Gain-
AC005833.1-
-
-
-
3Gain-
AC005943.1-
-
-
-
1Loss-
AC006059.2-
-
-
-
1Loss-
AC006064.6-
-
-
-
3Gain-
AC006254.1-
-
-
-
1Loss-
AC006486.1-
-
-
-
1Loss-
AC006538.2-
-
-
-
1Loss-
AC006978.2-
-
-
-
1Loss-
AC007192.1-
-
-
-
1Loss-
AC007326.4-
-
-
-
1Loss-
AC007731.5-
-
-
-
1Loss-
AC007846.2-
-
-
-
1Loss-
AC007998.2-
-
-
-
1Loss-
AC008012.1-
-
-
-
3Gain-
AC008397.2-
-
-
-
1Loss-
AC008481.3-
-
-
-
3Gain-
AC008537.1-
-
-
-
1Loss-
AC008575.1-
-
-
-
1Loss-
AC008581.2-
-
-
-
1Loss-
AC008676.3-
-
-
-
1Loss-
AC008695.1-
-
-
-
1Loss-
AC008758.1-
-
-
-
3Gain-
AC008758.4-
-
-
-
3Gain-
AC008758.5-
-
-
-
3Gain-
AC008758.6-
-
-
-
3Gain-
AC008763.2-
-
-
-
3Gain-
AC008763.3-
-
-
-
3Gain-
AC008764.1-
-
-
-
1Loss-
AC008764.4-
-
-
-
1Loss-
AC008770.1-
-
-
-
3Gain-
AC008770.2-
-
-
-
3Gain-
AC008878.1-
-
-
-
3Gain-
AC008878.2-
-
-
-
3Gain-
AC008878.3-
-
-
-
3Gain-
AC008982.1-
-
-
-
1Loss-
AC009086.2-
-
-
-
3Gain-
AC009119.2-
-
-
-
1Loss-
AC009133.6-
-
-
-
3Gain-
AC009163.2-
-
-
-
1Loss-
AC009163.4-
-
-
-
1Loss-
AC009690.1-
-
-
-
1Loss-
AC009690.3-
-
-
-
1Loss-
AC010132.3-
-
-
-
1Loss-
AC010255.3-
-
-
-
1Loss-
AC010319.2-
-
-
-
1Loss-
AC010323.1-
-
-
-
3Gain-
AC010422.3-
-
-
-
3Gain-
AC010422.5-
-
-
-
3Gain-
AC010422.6-
-
-
-
3Gain-
AC010422.8-
-
-
-
3Gain-
AC010463.1-
-
-
-
1Loss-
AC010487.3-
-
-
-
3Gain-
AC010531.1-
-
-
-
1Loss-
AC010542.3-
-
-
-
1Loss-
AC010547.4-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC010616.1-
-
-
-
1Loss-
AC010616.2-
-
-
-
1Loss-
AC010646.1-
-
-
-
1Loss-
AC011005.1-
-
-
-
1Loss-
AC011330.3-
-
-
-
1Loss-
AC011448.1-
-
-
-
1Loss-
AC011455.2-
-
-
-
1Loss-
AC011462.1-
-
-
-
1Loss-
AC011479.1-
-
-
-
1Loss-
AC011498.4-
-
-
-
1Loss-
AC011499.1-
-
-
-
1Loss-
AC011511.1-
-
-
-
3Gain-
AC011511.4-
-
-
-
3Gain-
AC011530.1-
-
-
-
1Loss-
AC012184.2-
-
-
-
1Loss-
AC012254.2-
-
-
-
1Loss-
AC012309.1-
-
-
-
1Loss-
AC012476.1-
-
-
-
1Loss-
AC012531.2-
-
-
-
1Loss-
AC012651.1-
-
-
-
1Loss-
AC013394.1-
-
-
-
1Loss-
AC013489.1-
-
-
-
1Loss-
AC018362.3-
-
-
-
1Loss-
AC018512.1-
-
-
-
1Loss-
AC018523.2-
-
-
-
1Loss-
AC018554.3-
-
-
-
1Loss-
AC018709.1-
-
-
-
1Loss-
AC019117.2-
-
-
-
3Gain-
AC020907.6-
-
-
-
1Loss-
AC022400.6-
-
-
-
1Loss-
AC022414.1-
-
-
-
1Loss-
AC023055.1-
-
-
-
1Loss-
AC023509.3-
-
-
-
1Loss-
AC024592.3-
-
-
-
1Loss-
AC025165.3-
-
-
-
1Loss-
AC025263.2-
-
-
-
1Loss-
AC025283.2-
-
-
-
1Loss-
AC025283.3-
-
-
-
1Loss-
AC026398.1-
-
-
-
1Loss-
AC026464.1-
-
-
-
1Loss-
AC026464.3-
-
-
-
1Loss-
AC026464.4-
-
-
-
1Loss-
AC026464.6-
-
-
-
1Loss-
AC026954.2-
-
-
-
1Loss-
AC027796.3-
-
-
-
1Loss-
AC034102.2-
-
-
-
1Loss-
AC037459.1-
-
-
-
1Loss-
AC040162.1-
-
-
-
1Loss-
AC055811.2-
-
-
-
1Loss-
AC058822.1-
-
-
-
3Gain-
AC067752.1-
-
-
-
1Loss-
AC067968.1-
-
-
-
1Loss-
AC068547.1-
-
-
-
1Loss-
AC068580.4-
-
-
-
1Loss-
AC068831.7-
-
-
-
1Loss-
AC068896.1-
-
-
-
1Loss-
AC068946.1-
-
-
-
1Loss-
AC068946.2-
-
-
-
1Loss-
AC069368.1-
-
-
-
1Loss-
AC073610.2-
-
-
-
1Loss-
AC073610.3-
-
-
-
1Loss-
AC073612.1-
-
-
-
1Loss-
AC073896.1-
-
-
-
1Loss-
AC074143.1-
-
-
-
1Loss-
AC078927.1-
-
-
-
1Loss-
AC084337.2-
-
-
-
1Loss-
AC087632.1-
-
-
-
1Loss-
AC087721.2-
-
-
-
1Loss-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC090517.4-
-
-
-
1Loss-
AC090527.2-
-
-
-
1Loss-
AC091057.6-
-
-
-
1Loss-
AC091167.2-
-
-
-
1Loss-
AC091167.6-
-
-
-
1Loss-
AC091167.7-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC091959.3-
-
-
-
1Loss-
AC092042.3-
-
-
-
1Loss-
AC092073.1-
-
-
-
1Loss-
AC092111.3-
-
-
-
3Gain-
AC092143.1-
-
-
-
1Loss-
AC092442.1-
-
-
-
1Loss-
AC092718.3-
-
-
-
1Loss-
AC092718.8-
-
-
-
1Loss-
AC093227.2-
-
-
-
1Loss-
AC093512.2-
-
-
-
3Gain-
AC093525.1-
-
-
-
1Loss-
AC093525.2-
-
-
-
1Loss-
AC093668.2-
-
-
-
1Loss-
AC093668.3-
-
-
-
1Loss-
AC093827.5-
-
-
-
1Loss-
AC096887.1-
-
-
-
1Loss-
AC097104.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098582.1-
-
-
-
1Loss-
AC098850.3-
-
-
-
1Loss-
AC099489.1-
-
-
-
3Gain-
AC104109.3-
-
-
-
1Loss-
AC104151.1-
-
-
-
1Loss-
AC104304.1-
-
-
-
1Loss-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC104532.1-
-
-
-
1Loss-
AC104581.2-
-
-
-
1Loss-
AC104662.2-
-
-
-
1Loss-
AC105052.1-
-
-
-
1Loss-
AC105052.3-
-
-
-
1Loss-
AC106886.5-
-
-
-
3Gain-
AC107871.1-
-
-
-
1Loss-
AC107959.5-
-
-
-
1Loss-
AC108941.2-
-
-
-
1Loss-
AC109583.3-
-
-
-
1Loss-
AC116366.3-
-
-
-
1Loss-
AC117378.1-
-
-
-
1Loss-
AC119396.1-
-
-
-
3Gain-
AC120057.2-
-
-
-
1Loss-
AC120114.4-
-
-
-
3Gain-
AC124312.1-
-
-
-
1Loss-
AC129492.3-
-
-
-
1Loss-
AC131097.2-
-
-
-
1Loss-
AC135050.2-
-
-
-
3Gain-
AC135068.1-
-
-
-
3Gain-
AC135068.3-
-
-
-
3Gain-
AC135178.2-
-
-
-
1Loss-
AC136428.1-
-
-
-
1Loss-
AC137834.1-
-
-
-
1Loss-
AC138811.2-
-
-
-
3Gain-
AC138894.1-
-
-
-
3Gain-
AC140504.1-
-
-
-
3Gain-
AC142391.1-
-
-
-
1Loss-
AC243967.1-
-
-
-
1Loss-
AC244517.10-
-
-
-
1Loss-
AC245033.1-
-
-
-
1Loss-
AC245748.1-
-
-
-
1Loss-
ACAA1-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACADL-
-
-
-
1Loss-
ACADSB-
-
-
-
1Loss-
ACADVL-
-
-
-
1Loss-
ACAN-
-
-
-
1Loss-
ACAP1-
-
-
-
1Loss-
ACBD6-
-
-
-
1Loss-
ACBD7-
-
-
-
5Amp-
ACD-
-
-
-
1Loss-
ACER1-
-
-
-
1Loss-
ACER2-
-
-
-
1Loss-
ACHE-
-
-
-
1Loss-
ACKR1-
-
-
-
3Gain-
ACKR2-
-
-
-
1Loss-
ACKR3-
-
-
-
1Loss-
ACMSD-
-
-
-
1Loss-
ACOT12-
-
-
-
1Loss-
ACOT13-
-
-
-
7Amp-
ACOX2-
-
-
-
1Loss-
ACOX3-
-
-
-
1Loss-
ACP5-
-
-
-
3Gain-
ACP7-
-
-
-
1Loss-
ACRBP-
-
-
-
3Gain-
ACSBG1-
-
-
-
1Loss-
ACSBG2-
-
-
-
1Loss-
ACSF3-
-
-
-
1Loss-
ACSL1-
-
-
-
1Loss-
ACSL3-
-
-
-
1Loss-
ACSL5-
-
-
-
1Loss-
ACSL6-
-
-
-
1Loss-
ACSM1-
-
-
-
3Gain-
ACSM2A-
-
-
-
3Gain-
ACSM2B-
-
-
-
3Gain-
ACSM3-
-
-
-
3Gain-
ACSM4-
-
-
-
3Gain-
ACSM5-
-
-
-
3Gain-
ACSM6-
-
-
-
1Loss-
ACSS1-
-
-
-
1Loss-
ACSS3-
-
-
-
1Loss-
ACTA2-
-
-
-
1Loss-
ACTBL2-
-
-
-
1Loss-
ACTC1-
-
-
-
1Loss-
ACTL6B-
-
-
-
1Loss-
ACTL7A-
-
-
-
3Gain-
ACTL7B-
-
-
-
3Gain-
ACTL8-
-
-
-
1Loss-
ACTL9-
-
-
-
3Gain-
ACTN4-
-
-
-
1Loss-
ACTR1A-
-
-
-
1Loss-
ACTR6-
-
-
-
1Loss-
ACTR8-
-
-
-
1Loss-
ACVR1-
-
-
-
1Loss-
ACVR1B-
-
-
-
1Loss-
ACVR1C-
-
-
-
1Loss-
ACVR2A-
-
-
-
1Loss-
ACVR2B-
-
-
-
1Loss-
ACVRL1-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
AD000671.1-
-
-
-
1Loss-
AD000671.2-
-
-
-
1Loss-
ADA2-
-
-
-
1Loss-
ADAD2-
-
-
-
1Loss-
ADAL-
-
-
-
1Loss-
ADAM10-
-
-
-
1Loss-
ADAM12-
-
-
-
1Loss-
ADAM15-
-
-
-
3Gain-
ADAM19-
-
-
-
1Loss-
ADAM23-
-
-
-
1Loss-
ADAM28-
-
-
-
1Loss-
ADAM29-
-
-
-
1Loss-
ADAM33-
-
-
-
1Loss-
ADAM7-
-
-
-
1Loss-
ADAM8-
-
-
-
1Loss-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS10-
-
-
-
3Gain-
ADAMTS14-
-
-
-
1Loss-
ADAMTS16-
-
-
-
1Loss-
ADAMTS17-
-
-
-
1Loss-
ADAMTS18-
-
-
-
1Loss-
ADAMTS19-
-
-
-
1Loss-
ADAMTS20-
-
-
-
1Loss-
ADAMTS3-
-
-
-
1Loss-
ADAMTS6-
-
-
-
1Loss-
ADAMTS7-
-
-
-
1Loss-
ADAMTS9-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL3-
-
-
-
1Loss-
ADAMTSL4-
-
-
-
3Gain-
ADAMTSL5-
-
-
-
1Loss-
ADAR-
-
-
-
3Gain-
ADARB2-
-
-
-
5Amp-
ADAT1-
-
-
-
1Loss-
ADAT3-
-
-
-
1Loss-
ADCY1-
-
-
-
1Loss-
ADCY2-
-
-
-
1Loss-
ADCY6-
-
-
-
1Loss-
ADCY7-
-
-
-
1Loss-
ADCY9-
-
-
-
1Loss-
ADCYAP1R1-
-
-
-
1Loss-
ADD1-
-
-
-
1Loss-
ADD3-
-
-
-
1Loss-
ADGRA1-
-
-
-
1Loss-
ADGRA3-
-
-
-
3Gain-
ADGRB3-
-
-
-
3Gain-
ADGRE1-
-
-
-
3Gain-
ADGRE2-
-
-
-
1Loss-
ADGRE3-
-
-
-
1Loss-
ADGRE5-
-
-
-
1Loss-
ADGRF1-
-
-
-
1Loss-
ADGRF2-
-
-
-
1Loss-
ADGRF4-
-
-
-
1Loss-
ADGRF5-
-
-
-
1Loss-
ADGRG1-
-
-
-
1Loss-
ADGRG3-
-
-
-
1Loss-
ADGRG5-
-
-
-
1Loss-
ADGRL1-
-
-
-
1Loss-
ADGRL3-
-
-
-
3Gain-
ADGRV1-
-
-
-
1Loss-
ADIPOR2-
-
-
-
3Gain-
ADIRF-
-
-
-
1Loss-
ADK-
-
-
-
1Loss-
ADM-
-
-
-
1Loss-
ADNP2-
-
-
-
1Loss-
ADO-
-
-
-
1Loss-
ADORA2B-
-
-
-
1Loss-
ADPGK-
-
-
-
1Loss-
ADPRM-
-
-
-
1Loss-
ADRA1B-
-
-
-
1Loss-
ADRA1D-
-
-
-
1Loss-
ADRA2A-
-
-
-
1Loss-
ADRA2C-
-
-
-
1Loss-
ADRB1-
-
-
-
1Loss-
ADRB2-
-
-
-
1Loss-
ADRM1-
-
-
-
3Gain-
ADTRP-
-
-
-
3Gain-
AEBP1-
-
-
-
1Loss-
AEN-
-
-
-
1Loss-
AES-
-
-
-
1Loss-
AFAP1-
-
-
-
1Loss-
AFAP1L1-
-
-
-
1Loss-
AFAP1L2-
-
-
-
1Loss-
AFF1-
-
-
-
1Loss-
AFF4-
-
-
-
1Loss-
AFG1L-
-
-
-
1Loss-
AFM-
-
-
-
1Loss-
AFP-
-
-
-
1Loss-
AGA-
-
-
-
1Loss-
AGAP1-
-
-
-
1Loss-
AGAP2-
-
-
-
1Loss-
AGAP5-
-
-
-
1Loss-
AGAP6-
-
-
-
1Loss-
AGAP9-
-
-
-
1Loss-
AGBL1-
-
-
-
1Loss-
AGBL3-
-
-
-
1Loss-
AGFG1-
-
-
-
1Loss-
AGFG2-
-
-
-
1Loss-
AGGF1-
-
-
-
1Loss-
AGMAT-
-
-
-
1Loss-
AGMO-
-
-
-
3Gain-
AGPAT5-
-
-
-
1Loss-
AGR2-
-
-
-
3Gain-
AGR3-
-
-
-
3Gain-
AGRP-
-
-
-
1Loss-
AGTPBP1-
-
-
-
3Gain-
AGTRAP-
-
-
-
1Loss-
AGXT-
-
-
-
1Loss-
AHCYL2-
-
-
-
1Loss-
AHDC1-
-
-
-
1Loss-
AHR-
-
-
-
3Gain-
AHRR-
-
-
-
1Loss-
AHSP-
-
-
-
3Gain-
AICDA-
-
-
-
3Gain-
AIFM2-
-
-
-
1Loss-
AIM2-
-
-
-
3Gain-
AIMP2-
-
-
-
3Gain-
AIPL1-
-
-
-
1Loss-
AK6-
-
-
-
1Loss-
AK9-
-
-
-
1Loss-
AKAP10-
-
-
-
1Loss-
AKAP11-
-
-
-
1Loss-
AKAP13-
-
-
-
1Loss-
AKAP2-
-
-
-
3Gain-
AKAP3-
-
-
-
3Gain-
AKAP8-
-
-
-
1Loss-
AKAP8L-
-
-
-
1Loss-
AKIP1-
-
-
-
1Loss-
AKIRIN2-
-
-
-
1Loss-
AKNA-
-
-
-
3GainAKNA--AC004951.4
AKR1B1-
-
-
-
1Loss-
AKR1B10-
-
-
-
1Loss-
AKR1B15-
-
-
-
1Loss-
AKR1C1-
-
-
-
5Amp-
AKR1C2-
-
-
-
5Amp-
AKR1C3-
-
-
-
5Amp-
AKR1C4-
-
-
-
5Amp-
AKR1C8P-
-
-
-
5Amp-
AKR1E2-
-
-
-
5Amp-
AKR7A2-
-
-
-
1Loss-
AKR7A3-
-
-
-
1Loss-
AKR7L-
-
-
-
1Loss-
AKT2-
-
-
-
1Loss-
AKTIP-
-
-
-
1Loss-
AL020996.2-
-
-
-
1Loss-
AL024498.2-
-
-
-
3Gain-
AL031281.2-
-
-
-
1Loss-
AL031708.1-
-
-
-
1Loss-
AL035460.1-
-
-
-
1Loss-
AL049634.2-
-
-
-
1Loss-
AL049650.1-
-
-
-
1Loss-
AL049697.1-
-
-
-
1Loss-
AL080251.1-
-
-
-
1Loss-
AL096711.2-
-
-
-
1Loss-
AL109811.4-
-
-
-
1Loss-
AL121722.1-
-
-
-
1Loss-
AL121758.1-
-
-
-
1Loss-
AL121845.2-
-
-
-
3Gain-
AL121845.3-
-
-
-
3Gain-
AL121900.2-
-
-
-
1Loss-
AL132671.2-
-
-
-
1Loss-
AL133352.1-
-
-
-
1Loss-
AL133353.2-
-
-
-
1Loss-
AL136531.2-
-
-
-
1Loss-
AL139011.2-
-
-
-
3Gain-
AL139099.4-
-
-
-
NDNDAL139099.4--HSPD1
AL139099.4--HES1
KLHDC3--AL139099.4
AL157392.5-
-
-
-
5Amp-
AL160269.1-
-
-
-
3Gain-
AL162377.3-
-
-
-
1Loss-
AL355315.1-
-
-
-
1Loss-
AL358113.1-
-
-
-
3Gain-
AL358472.6-
-
-
-
3Gain-
AL358472.7-
-
-
-
3Gain-
AL359736.1-
-
-
-
1Loss-
AL359922.1-
-
-
-
1Loss-
AL360181.3-
-
-
-
1Loss-
AL365214.3-
-
-
-
1Loss-
AL365232.1-
-
-
-
3Gain-
AL365273.2-
-
-
-
1Loss-
AL512428.1-
-
-
-
7Amp-
AL512506.3-
-
-
-
1Loss-
AL583836.1-
-
-
-
1Loss-
AL589666.1-
-
-
-
1Loss-
AL691442.1-
-
-
-
3Gain-
AL713999.1-
-
-
-
3Gain-
ALAD-
-
-
-
3Gain-
ALAS1-
-
-
-
1Loss-
ALB-
-
-
-
1Loss-
ALDH18A1-
-
-
-
1Loss-
ALDH1A1-
-
-
-
3Gain-
ALDH1A2-
-
-
-
1Loss-
ALDH1A3-
-
-
-
1Loss-
ALDH1L2-
-
-
-
1Loss-
ALDH3A1-
-
-
-
1Loss-
ALDH3A2-
-
-
-
1Loss-
ALDH4A1-
-
-
-
1Loss-
ALDH5A1-
-
-
-
7Amp-
ALDH7A1-
-
-
-
1Loss-
ALDOA-
-
-
-
3Gain-
ALDOB-
-
-
-
3Gain-
ALG1-
-
-
-
1Loss-
ALG11-
-
-
-
1Loss-
ALG2-
-
-
-
3Gain-
ALG5-
-
-
-
1Loss-
ALKBH4-
-
-
-
1Loss-
ALKBH5-
-
-
-
1Loss-
ALKBH6-
-
-
-
1Loss-
ALKBH7-
-
-
-
1Loss-
ALOX12-
-
-
-
1Loss-
ALOX12B-
-
-
-
1Loss-
ALOX15-
-
-
-
1Loss-
ALOX15B-
-
-
-
1Loss-
ALOX5AP-
-
-
-
1Loss-
ALOXE3-
-
-
-
1Loss-
ALPG-
-
-
-
1Loss-
ALPI-
-
-
-
1Loss-
ALPK2-
-
-
-
1Loss-
ALPK3-
-
-
-
1Loss-
ALPL-
-
-
-
1Loss-
ALPP-
-
-
-
1Loss-
ALS2-
-
-
-
1Loss-
ALS2CL-
-
-
-
1Loss-
ALS2CR12-
-
-
-
1Loss-
ALX1-
-
-
-
1Loss-
AMBN-
-
-
-
1Loss-
AMBP-
-
-
-
3Gain-
AMD1-
-
-
-
1Loss-
AMDHD1-
-
-
-
1Loss-
AMDHD2-
-
-
-
1Loss-
AMER2-
-
-
-
1Loss-
AMER3-
-
-
-
3Gain-
AMFR-
-
-
-
1Loss-
AMH-
-
-
-
1Loss-
AMHR2-
-
-
-
1Loss-
AMIGO2-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMMECR1L-
-
-
-
3Gain-
AMPD3-
-
-
-
1Loss-
AMPH-
-
-
-
1Loss-
AMT-
-
-
-
1Loss-
AMTN-
-
-
-
1Loss-
ANAPC16-
-
-
-
1Loss-
ANAPC4-
-
-
-
1Loss-
ANGPT2-
-
-
-
1Loss-
ANGPT4-
-
-
-
1Loss-
ANGPTL1-
-
-
-
1Loss-
ANGPTL4-
-
-
-
3Gain-
ANGPTL6-
-
-
-
3Gain-
ANGPTL7-
-
-
-
1Loss-
ANGPTL8-
-
-
-
3Gain-
ANK3-
-
-
-
1Loss-
ANKDD1A-
-
-
-
1Loss-
ANKDD1B-
-
-
-
1Loss-
ANKEF1-
-
-
-
1Loss-
ANKFY1-
-
-
-
1Loss-
ANKH-
-
-
-
3Gain-
ANKHD1-
-
-
-
1Loss-
ANKHD1-EIF4EBP3-
-
-
-
1Loss-
ANKLE1-
-
-
-
1Loss-
ANKMY1-
-
-
-
1Loss-
ANKMY2-
-
-
-
3Gain-
ANKRA2-
-
-
-
1Loss-
ANKRD1-
-
-
-
1Loss-
ANKRD11-
-
-
-
1Loss-
ANKRD12-
-
-
-
2-ANKRD12--ASXL1
ANKRD16-
-
-
-
5Amp-
ANKRD17-
-
-
-
1Loss-
ANKRD2-
-
-
-
1Loss-
ANKRD22-
-
-
-
1Loss-
ANKRD24-
-
-
-
1Loss-
ANKRD27-
-
-
-
1Loss-
ANKRD29-
-
-
-
7Amp-
ANKRD30BL-
-
-
-
3Gain-
ANKRD31-
-
-
-
1Loss-
ANKRD33-
-
-
-
1Loss-
ANKRD33B-
-
-
-
1Loss-
ANKRD34B-
-
-
-
1Loss-
ANKRD34C-
-
-
-
1Loss-
ANKRD37-
-
-
-
1Loss-
ANKRD52-
-
-
-
1Loss-
ANKRD55-
-
-
-
1Loss-
ANKRD6-
-
-
-
1Loss-
ANKRD61-
-
-
-
3Gain-
ANKRD63-
-
-
-
1Loss-
ANKRD66-
-
-
-
1Loss-
ANKRD7-
-
-
-
1Loss-
ANKS1B-
-
-
-
1Loss-
ANKS3-
-
-
-
1Loss-
ANKS4B-
-
-
-
3Gain-
ANKS6-
-
-
-
3Gain-
ANKZF1-
-
-
-
1Loss-
ANLN-
-
-
-
1Loss-
ANO10-
-
-
-
1Loss-
ANO2-
-
-
-
3Gain-
ANO4-
-
-
-
1Loss-
ANO5-
-
-
-
1Loss-
ANO6-
-
-
-
1Loss-
ANO7-
-
-
-
1Loss-
ANO8-
-
-
-
1Loss-
ANO9-
-
-
-
1Loss-
ANP32A-
-
-
-
1Loss-
ANP32B-
-
-
-
3Gain-
ANP32D-
-
-
-
1Loss-
ANP32E-
-
-
-
3Gain-
ANPEP-
-
-
-
1Loss-
ANTXR2-
-
-
-
1Loss-
ANTXRL-
-
-
-
1Loss-
ANXA1-
-
-
-
3Gain-
ANXA10-
-
-
-
1Loss-
ANXA11-
-
-
-
1Loss-
ANXA2-
-
-
-
1Loss-
ANXA3-
-
-
-
1Loss-
ANXA6-
-
-
-
1Loss-
ANXA7-
-
-
-
1Loss-
ANXA8-
-
-
-
1Loss-
ANXA8L1-
-
-
-
1Loss-
ANXA9-
-
-
-
3Gain-
AOAH-
-
-
-
1Loss-
AP1G1-
-
-
-
1Loss-
AP1M1-
-
-
-
1Loss-
AP1M2-
-
-
-
3Gain-
AP1S1-
-
-
-
1Loss-
AP1S3-
-
-
-
1Loss-
AP2A2-
-
-
-
1Loss-
AP2S1-
-
-
-
1Loss-
AP3B1-
-
-
-
1Loss-
AP3B2-
-
-
-
1Loss-
AP3D1-
-
-
-
1Loss-
AP3M1-
-
-
-
1Loss-
AP3S1-
-
-
-
1Loss-
AP3S2-
-
-
-
1Loss-
AP4E1-
-
-
-
1Loss-
AP4M1-
-
-
-
1Loss-
AP5S1-
-
-
-
1Loss-
APAF1-
-
-
-
1Loss-
APBA1-
-
-
-
3Gain-
APBA2-
-
-
-
1Loss-
APBA3-
-
-
-
1Loss-
APBB1-
-
-
-
1Loss-
APBB2-
-
-
-
1Loss-
APBB3-
-
-
-
1Loss-
APC-
-
-
-
1Loss-
APC2-
-
-
-
1Loss-
APCS-
-
-
-
3Gain-
APEH-
-
-
-
1Loss-
APH1A-
-
-
-
3Gain-
APH1B-
-
-
-
1Loss-
APLP1-
-
-
-
1Loss-
APMAP-
-
-
-
1Loss-
APOBEC1-
-
-
-
3Gain-
APOBR-
-
-
-
3Gain-
APOC1-
-
-
-
1Loss-
APOC2-
-
-
-
1Loss-
APOC4-APOC2-
-
-
-
1Loss-
APOE-
-
-
-
1Loss-
APOF-
-
-
-
1Loss-
APPL1-
-
-
-
1Loss-
APPL2-
-
-
-
1Loss-
APRT-
-
-
-
1Loss-
AQP1-
-
-
-
1Loss-
AQP10-
-
-
-
3Gain-
AQP12A-
-
-
-
1Loss-
AQP12B-
-
-
-
1Loss-
AQP2-
-
-
-
1Loss-
AQP4-
-
-
-
1Loss-
AQP5-
-
-
-
1Loss-
AQP6-
-
-
-
1Loss-
AQP8-
-
-
-
3Gain-
AQP9-
-
-
-
1Loss-
AQR-
-
-
-
1Loss-
ARAP2-
-
-
-
3Gain-
ARAP3-
-
-
-
1Loss-
AREG-
-
-
-
1Loss-
ARF3-
-
-
-
1Loss-
ARF4-
-
-
-
1Loss-
ARF5-
-
-
-
1Loss-
ARFGAP1-
-
-
-
3Gain-
ARFIP2-
-
-
-
1Loss-
ARFRP1-
-
-
-
3Gain-
ARHGAP11A-
-
-
-
1Loss-
ARHGAP11B-
-
-
-
1Loss-
ARHGAP15-
-
-
-
1Loss-
ARHGAP17-
-
-
-
3Gain-
ARHGAP19-
-
-
-
1Loss-
ARHGAP19-SLIT1-
-
-
-
1Loss-
ARHGAP21-
-
-
-
5Amp-
ARHGAP22-
-
-
-
1Loss-
ARHGAP24-
-
-
-
1Loss-
ARHGAP26-
-
-
-
1Loss-
ARHGAP33-
-
-
-
1Loss-
ARHGAP35-
-
-
-
1Loss-
ARHGAP44-
-
-
-
1Loss-
ARHGAP45-
-
-
-
1Loss-
ARHGAP9-
-
-
-
1Loss-
ARHGDIG-
-
-
-
1Loss-
ARHGEF1-
-
-
-
1Loss-
ARHGEF10-
-
-
-
0Del-
ARHGEF10L-
-
-
-
1Loss-
ARHGEF11-
-
-
-
3Gain-
ARHGEF15-
-
-
-
1Loss-
ARHGEF18-
-
-
-
3Gain-
ARHGEF19-
-
-
-
1Loss-
ARHGEF2-
-
-
-
3Gain-
ARHGEF25-
-
-
-
1Loss-
ARHGEF28-
-
-
-
1Loss-
ARHGEF3-
-
-
-
1Loss-
ARHGEF37-
-
-
-
1Loss-
ARHGEF4-
-
-
-
3Gain-
ARID1A-
-
-
-
1Loss-
ARID2-
-
-
-
1Loss-
ARID3A-
-
-
-
1Loss-
ARID3B-
-
-
-
1Loss-
ARID5B-
-
-
-
1Loss-
ARIH1-
-
-
-
1Loss-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL1-
-
-
-
1Loss-
ARL11-
-
-
-
1Loss-
ARL14EPL-
-
-
-
1Loss-
ARL2BP-
-
-
-
1Loss-
ARL3-
-
-
-
1Loss-
ARL4A-
-
-
-
3Gain-
ARL4C-
-
-
-
1Loss-
ARL5A-
-
-
-
1Loss-
ARL5B-
-
-
-
5Amp-
ARL6IP1-
-
-
-
3Gain-
ARL6IP5-
-
-
-
1Loss-
ARL6IP6-
-
-
-
1Loss-
ARL9-
-
-
-
3Gain-
ARMC10-
-
-
-
1Loss-
ARMC2-
-
-
-
1Loss-
ARMC3-
-
-
-
5Amp-
ARMC5-
-
-
-
3Gain-
ARMC6-
-
-
-
1Loss-
ARMC9-
-
-
-
1Loss-
ARMH2-
-
-
-
7Amp-
ARMH3-
-
-
-
1Loss-
ARMS2-
-
-
-
1Loss-
ARNT-
-
-
-
3Gain-
ARNT2-
-
-
-
1Loss-
ARNTL-
-
-
-
1Loss-
ARPC1A-
-
-
-
1Loss-
ARPC1B-
-
-
-
1Loss-
ARPC2-
-
-
-
1LossPHC3--ARPC2
ARPIN-
-
-
-
1Loss-
ARPP19-
-
-
-
1Loss-
ARPP21-
-
-
-
1Loss-
ARRB2-
-
-
-
1Loss-
ARRDC2-
-
-
-
1Loss-
ARRDC3-
-
-
-
1Loss-
ARRDC4-
-
-
-
1Loss-
ARRDC5-
-
-
-
1Loss-
ARSB-
-
-
-
1Loss-
ARSI-
-
-
-
1Loss-
ARSK-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART3-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
ARVCF-
-
-
-
1Loss-
AS3MT-
-
-
-
1Loss-
ASAH1-
-
-
-
1Loss-
ASAH2-
-
-
-
1Loss-
ASAH2B-
-
-
-
1Loss-
ASAP3-
-
-
-
1Loss-
ASB1-
-
-
-
1Loss-
ASB13-
-
-
-
5Amp-
ASB14-
-
-
-
1Loss-
ASB15-
-
-
-
1Loss-
ASB18-
-
-
-
1Loss-
ASB5-
-
-
-
1Loss-
ASB7-
-
-
-
1Loss-
ASB8-
-
-
-
1Loss-
ASCC1-
-
-
-
1Loss-
ASCC3-
-
-
-
1Loss-
ASCL1-
-
-
-
1Loss-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASCL4-
-
-
-
1Loss-
ASF1A-
-
-
-
1Loss-
ASF1B-
-
-
-
1Loss-
ASGR1-
-
-
-
1Loss-
ASGR2-
-
-
-
1Loss-
ASH1L-
-
-
-
3Gain-
ASIC1-
-
-
-
1Loss-
ASIC4-
-
-
-
1Loss-
ASNA1-
-
-
-
3Gain-
ASPA-
-
-
-
1Loss-
ASPHD1-
-
-
-
3Gain-
ASPN-
-
-
-
3Gain-
ASTN1-
-
-
-
1Loss-
ASXL1-
-
-
-
2-ANKRD12--ASXL1
ASXL3-
-
-
-
1Loss-
ASZ1-
-
-
-
1Loss-
ATAD1-
-
-
-
1Loss-
ATCAY-
-
-
-
1Loss-
ATE1-
-
-
-
1Loss-
ATF1-
-
-
-
1Loss-
ATF7-
-
-
-
1Loss-
ATF7IP2-
-
-
-
3Gain-
ATG10-
-
-
-
1Loss-
ATG101-
-
-
-
1Loss-
ATG12-
-
-
-
1Loss-
ATG16L1-
-
-
-
1Loss-
ATG4B-
-
-
-
1Loss-
ATG4D-
-
-
-
3Gain-
ATG5-
-
-
-
1Loss-
ATG9A-
-
-
-
1Loss-
ATIC-
-
-
-
1Loss-
ATMIN-
-
-
-
1Loss-
ATN1-
-
-
-
3Gain-
ATOH7-
-
-
-
1Loss-
ATOX1-
-
-
-
1Loss-
ATP10A-
-
-
-
1Loss-
ATP10B-
-
-
-
1Loss-
ATP10D-
-
-
-
1Loss-
ATP12A-
-
-
-
1Loss-
ATP13A1-
-
-
-
1Loss-
ATP13A2-
-
-
-
1Loss-
ATP1A2-
-
-
-
3Gain-
ATP1A3-
-
-
-
1Loss-
ATP1A4-
-
-
-
3Gain-
ATP1B2-
-
-
-
1Loss-
ATP23-
-
-
-
1Loss-
ATP2A1-
-
-
-
3Gain-
ATP2A3-
-
-
-
1Loss-
ATP2B1-
-
-
-
1Loss-
ATP2C2-
-
-
-
1Loss-
ATP4A-
-
-
-
1Loss-
ATP5F1A-
-
-
-
1Loss-
ATP5F1B-
-
-
-
1Loss-
ATP5F1C-
-
-
-
5Amp-
ATP5F1D-
-
-
-
1Loss-
ATP5IF1-
-
-
-
1Loss-
ATP5MC2-
-
-
-
1Loss-
ATP5MD-
-
-
-
1Loss-
ATP5MF-
-
-
-
1Loss-
ATP5MF-PTCD1-
-
-
-
1Loss-
ATP6AP1L-
-
-
-
1Loss-
ATP6V0C-
-
-
-
1Loss-
ATP6V0D1-
-
-
-
1Loss-
ATP6V0E1-
-
-
-
1Loss-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1E1-
-
-
-
1Loss-
ATP6V1F-
-
-
-
1Loss-
ATP6V1FNB-
-
-
-
1Loss-
ATP6V1G1-
-
-
-
3Gain-
ATP7B-
-
-
-
1Loss-
ATP8A1-
-
-
-
1Loss-
ATP8A2-
-
-
-
1Loss-
ATP8B1-
-
-
-
1Loss-
ATP8B2-
-
-
-
3Gain-
ATP8B3-
-
-
-
1Loss-
ATP8B4-
-
-
-
1Loss-
ATP9B-
-
-
-
1Loss-
ATPAF2-
-
-
-
1Loss-
ATRIP-
-
-
-
1Loss-
ATRN-
-
-
-
1Loss-
ATRNL1-
-
-
-
1Loss-
ATXN1L-
-
-
-
1Loss-
ATXN2L-
-
-
-
3Gain-
ATXN7-
-
-
-
1Loss-
ATXN7L1-
-
-
-
1Loss-
ATXN7L3B-
-
-
-
1Loss-
AUH-
-
-
-
3Gain-
AUNIP-
-
-
-
1Loss-
AURKB-
-
-
-
1Loss-
AVEN-
-
-
-
1Loss-
AVIL-
-
-
-
1Loss-
AVL9-
-
-
-
1Loss-
AVP-
-
-
-
1Loss-
AVPI1-
-
-
-
1Loss-
AVPR1A-
-
-
-
1Loss-
AXDND1-
-
-
-
1Loss-
AXIN1-
-
-
-
1Loss-
AXL-
-
-
-
1Loss-
AZGP1-
-
-
-
1Loss-
AZU1-
-
-
-
1Loss-
B2M-
-
-
-
1Loss-
B3GAT2-
-
-
-
3Gain-
B3GLCT-
-
-
-
0Del-
B3GNT3-
-
-
-
1Loss-
B3GNT7-
-
-
-
1Loss-
B3GNT8-
-
-
-
1Loss-
B3GNT9-
-
-
-
1Loss-
B4GALNT1-
-
-
-
1Loss-
B4GALNT3-
-
-
-
3Gain-
B4GALNT4-
-
-
-
1Loss-
B4GALT6-
-
-
-
1Loss-
B9D1-
-
-
-
1Loss-
B9D2-
-
-
-
1Loss-
BAAT-
-
-
-
3Gain-
BABAM1-
-
-
-
1Loss-
BACH2-
-
-
-
1Loss-
BAG2-
-
-
-
3Gain-
BAG3-
-
-
-
1Loss-
BAHD1-
-
-
-
1Loss-
BAIAP3-
-
-
-
1Loss-
BANF2-
-
-
-
1Loss-
BANP-
-
-
-
1Loss-
BAP1-
-
-
-
1Loss-
BARD1-
-
-
-
1Loss-
BARX1-
-
-
-
3Gain-
BASP1-
-
-
-
3Gain-
BAZ2A-
-
-
-
1Loss-
BAZ2B-
-
-
-
1Loss-
BBIP1-
-
-
-
1Loss-
BBS10-
-
-
-
1Loss-
BBS2-
-
-
-
1Loss-
BBS4-
-
-
-
1Loss-
BBS9-
-
-
-
1Loss-
BCAM-
-
-
-
1Loss-
BCAN-
-
-
-
3Gain-
BCAP29-
-
-
-
1Loss-
BCAR1-
-
-
-
1Loss-
BCCIP-
-
-
-
1Loss-
BCDIN3D-
-
-
-
1Loss-
BCKDHA-
-
-
-
1Loss-
BCKDHB-
-
-
-
1Loss-
BCKDK-
-
-
-
3Gain-
BCL2-
-
-
-
1Loss-
BCL2A1-
-
-
-
1Loss-
BCL2L10-
-
-
-
1Loss-
BCL2L13-
-
-
-
1Loss-
BCL3-
-
-
-
1Loss-
BCL6B-
-
-
-
1Loss-
BCL7C-
-
-
-
3Gain-
BCO1-
-
-
-
1Loss-
BCS1L-
-
-
-
1Loss-
BDP1-
-
-
-
1Loss-
BEAN1-
-
-
-
1Loss-
BEND3-
-
-
-
1Loss-
BEND4-
-
-
-
1Loss-
BEND6-
-
-
-
3Gain-
BEND7-
-
-
-
5Amp-
BEST2-
-
-
-
3Gain-
BEST3-
-
-
-
1Loss-
BET1L-
-
-
-
1Loss-
BFAR-
-
-
-
3Gain-
BFSP1-
-
-
-
1Loss-
BGLAP-
-
-
-
3Gain-
BHLHA9-
-
-
-
1Loss-
BHLHE23-
-
-
-
3Gain-
BHMG1-
-
-
-
1Loss-
BHMT-
-
-
-
1Loss-
BHMT2-
-
-
-
1Loss-
BICC1-
-
-
-
1Loss-
BICD2-
-
-
-
3Gain-
BICDL2-
-
-
-
1Loss-
BID-
-
-
-
1Loss-
BIN1-
-
-
-
3Gain-
BIN2-
-
-
-
1Loss-
BIN3-
-
-
-
1Loss-
BIRC7-
-
-
-
3Gain-
BIRC8-
-
-
-
3Gain-
BLK-
-
-
-
1Loss-
BLM-
-
-
-
1Loss-
BLNK-
-
-
-
1Loss-
BLOC1S1-
-
-
-
1Loss-
BLOC1S1-RDH5-
-
-
-
1Loss-
BLOC1S2-
-
-
-
1Loss-
BLOC1S3-
-
-
-
1Loss-
BLOC1S4-
-
-
-
1Loss-
BLOC1S5-
-
-
-
3Gain-
BLOC1S5-TXNDC5-
-
-
-
3Gain-
BLOC1S6-
-
-
-
1Loss-
BLVRA-
-
-
-
1Loss-
BLVRB-
-
-
-
1Loss-
BMF-
-
-
-
1Loss-
BMI1-
-
-
-
5Amp-
BMP1-
-
-
-
1Loss-
BMP2-
-
-
-
1Loss-
BMP2K-
-
-
-
1Loss-
BMP3-
-
-
-
1Loss-
BMP5-
-
-
-
5Amp-
BMP6-
-
-
-
3Gain-
BMPER-
-
-
-
1Loss-
BMPR1A-
-
-
-
1Loss-
BMPR2-
-
-
-
1Loss-
BMT2-
-
-
-
1Loss-
BNC1-
-
-
-
1Loss-
BNC2-
-
-
-
1Loss-
BNIP1-
-
-
-
1Loss-
BNIP2-
-
-
-
1Loss-
BNIP3-
-
-
-
1Loss-
BNIPL-
-
-
-
3Gain-
BOD1-
-
-
-
1Loss-
BOD1L1-
-
-
-
3Gain-
BOD1L2-
-
-
-
1Loss-
BOK-
-
-
-
1Loss-
BOLA1-
-
-
-
3Gain-
BOLA2-
-
-
-
3Gain-
BOLA2-SMG1P6-
-
-
-
3Gain-
BOLA2B-
-
-
-
3Gain-
BOP1-
-
-
-
1Loss-
BORCS6-
-
-
-
1Loss-
BORCS7-
-
-
-
1Loss-
BORCS7-ASMT-
-
-
-
1Loss-
BORCS8-
-
-
-
1Loss-
BORCS8-MEF2B-
-
-
-
1Loss-
BPGM-
-
-
-
1Loss-
BPHL-
-
-
-
5Amp-
BRCA2-
-
-
-
0Del-
BRD4-
-
-
-
1Loss-
BRD7-
-
-
-
1Loss-
BRD8-
-
-
-
1Loss-
BRD9-
-
-
-
1Loss-
BRICD5-
-
-
-
1Loss-
BRINP2-
-
-
-
1Loss-
BRSK2-
-
-
-
1Loss-
BSG-
-
-
-
1Loss-
BSN-
-
-
-
1Loss-
BSPRY-
-
-
-
3Gain-
BST1-
-
-
-
3Gain-
BST2-
-
-
-
1Loss-
BTAF1-
-
-
-
1Loss-
BTBD1-
-
-
-
1Loss-
BTBD10-
-
-
-
1Loss-
BTBD11-
-
-
-
1Loss-
BTBD16-
-
-
-
1Loss-
BTBD2-
-
-
-
1Loss-
BTBD3-
-
-
-
1Loss-
BTC-
-
-
-
1Loss-
BTF3-
-
-
-
1Loss-
BTG1-
-
-
-
1Loss-
BTRC-
-
-
-
1Loss-
BUB1B-
-
-
-
1Loss-
BUB1B-PAK6-
-
-
-
1Loss-
BUB3-
-
-
-
1Loss-
BUD31-
-
-
-
1Loss-
BVES-
-
-
-
1Loss-
BZW2-
-
-
-
3Gain-
C10orf105-
-
-
-
1Loss-
C10orf113-
-
-
-
5Amp-
C10orf120-
-
-
-
1Loss-
C10orf53-
-
-
-
1Loss-
C10orf55-
-
-
-
1Loss-
C10orf62-
-
-
-
1Loss-
C10orf67-
-
-
-
5Amp-
C10orf71-
-
-
-
1Loss-
C10orf82-
-
-
-
1Loss-
C10orf88-
-
-
-
1Loss-
C10orf90-
-
-
-
1Loss-
C10orf95-
-
-
-
1Loss-
C10orf99-
-
-
-
1Loss-
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf58-
-
-
-
1Loss-
C12orf10-
-
-
-
1Loss-
C12orf29-
-
-
-
1Loss-
C12orf4-
-
-
-
3Gain-
C12orf40-
-
-
-
1Loss-
C12orf42-
-
-
-
1Loss-
C12orf45-
-
-
-
1Loss-
C12orf50-
-
-
-
1Loss-
C12orf54-
-
-
-
1Loss-
C12orf56-
-
-
-
1Loss-
C12orf57-
-
-
-
3Gain-
C12orf66-
-
-
-
1Loss-
C12orf73-
-
-
-
1Loss-
C12orf75-
-
-
-
1Loss-
C15orf38-AP3S2-
-
-
-
1Loss-
C15orf39-
-
-
-
1Loss-
C15orf40-
-
-
-
1Loss-
C15orf41-
-
-
-
1Loss-
C15orf48-
-
-
-
1Loss-
C15orf53-
-
-
-
1Loss-
C15orf61-
-
-
-
1Loss-
C15orf62-
-
-
-
1Loss-
C15orf65-
-
-
-
1Loss-
C16orf45-
-
-
-
3Gain-
C16orf46-
-
-
-
1Loss-
C16orf54-
-
-
-
3Gain-
C16orf58-
-
-
-
3Gain-
C16orf70-
-
-
-
1Loss-
C16orf71-
-
-
-
1Loss-
C16orf72-
-
-
-
3Gain-
C16orf74-
-
-
-
1Loss-
C16orf78-
-
-
-
1Loss-
C16orf86-
-
-
-
1Loss-
C16orf87-
-
-
-
1Loss-
C16orf89-
-
-
-
1Loss-
C16orf90-
-
-
-
1Loss-
C16orf91-
-
-
-
1Loss-
C16orf92-
-
-
-
3Gain-
C16orf95-
-
-
-
1Loss-
C16orf96-
-
-
-
1Loss-
C17orf100-
-
-
-
1Loss-
C17orf107-
-
-
-
1Loss-
C17orf49-
-
-
-
1Loss-
C17orf51-
-
-
-
1Loss-
C17orf97-
-
-
-
1Loss-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf12-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf33-
-
-
-
1Loss-
C19orf38-
-
-
-
3Gain-
C19orf44-
-
-
-
1Loss-
C19orf47-
-
-
-
1Loss-
C19orf54-
-
-
-
1Loss-
C19orf66-
-
-
-
3Gain-
C19orf67-
-
-
-
1Loss-
C19orf70-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C1GALT1-
-
-
-
3Gain-
C1orf127-
-
-
-
1Loss-
C1orf158-
-
-
-
1Loss-
C1orf167-
-
-
-
1Loss-
C1orf189-
-
-
-
3Gain-
C1orf43-
-
-
-
3Gain-
C1orf54-
-
-
-
3Gain-
C1orf56-
-
-
-
3Gain-
C1orf61-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1QA-
-
-
-
1Loss-
C1QB-
-
-
-
1Loss-
C1QBP-
-
-
-
1Loss-
C1QC-
-
-
-
1Loss-
C1QL2-
-
-
-
3Gain-
C1QL3-
-
-
-
5Amp-
C1QL4-
-
-
-
1Loss-
C1QTNF2-
-
-
-
1Loss-
C1QTNF7-
-
-
-
3Gain-
C1QTNF8-
-
-
-
1Loss-
C1QTNF9-
-
-
-
1Loss-
C1QTNF9B-
-
-
-
1Loss-
C1R-
-
-
-
3Gain-
C1RL-
-
-
-
3Gain-
C1S-
-
-
-
3Gain-
C20orf141-
-
-
-
1Loss-
C20orf194-
-
-
-
1Loss-
C20orf202-
-
-
-
1Loss-
C20orf204-
-
-
-
3Gain-
C20orf27-
-
-
-
1Loss-
C20orf96-
-
-
-
1Loss-
C22orf39-
-
-
-
1Loss-
C2CD4A-
-
-
-
1Loss-
C2CD4B-
-
-
-
1Loss-
C2CD4C-
-
-
-
1Loss-
C2CD4D-
-
-
-
3Gain-
C2CD6-
-
-
-
1Loss-
C2orf72-
-
-
-
1Loss-
C2orf76-
-
-
-
3Gain-
C2orf80-
-
-
-
1Loss-
C2orf83-
-
-
-
1Loss-
C3-
-
-
-
3Gain-
C3AR1-
-
-
-
3Gain-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf38-
-
-
-
1Loss-
C3orf49-
-
-
-
1Loss-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf84-
-
-
-
1Loss-
C4orf19-
-
-
-
3Gain-
C4orf36-
-
-
-
1Loss-
C4orf47-
-
-
-
1Loss-
C4orf50-
-
-
-
1Loss-
C5orf15-
-
-
-
1Loss-
C5orf22-
-
-
-
1Loss-
C5orf24-
-
-
-
1Loss-
C5orf30-
-
-
-
1Loss-
C5orf38-
-
-
-
1Loss-
C5orf42p.G1397V
Missense
SNP
0.508
NDND-
C5orf46-
-
-
-
1Loss-
C5orf47-
-
-
-
1Loss-
C5orf49-
-
-
-
1Loss-
C5orf52-
-
-
-
1Loss-
C5orf58-
-
-
-
1Loss-
C5orf63-
-
-
-
1Loss-
C5orf67-
-
-
-
1Loss-
C6orf141-
-
-
-
1Loss-
C6orf163-
-
-
-
1Loss-
C6orf201-
-
-
-
3Gain-
C6orf203-
-
-
-
1Loss-
C6orf52-
-
-
-
3Gain-
C6orf58-
-
-
-
1Loss-
C6orf62-
-
-
-
7Amp-
C7orf25-
-
-
-
1Loss-
C7orf31-
-
-
-
1Loss-
C7orf43-
-
-
-
1Loss-
C7orf57-
-
-
-
1Loss-
C7orf61-
-
-
-
1Loss-
C7orf77-
-
-
-
1Loss-
C8orf48-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
C8orf74-
-
-
-
1Loss-
C9orf129-
-
-
-
3Gain-
C9orf135-
-
-
-
3Gain-
C9orf152-
-
-
-
3Gain-
C9orf153-
-
-
-
3Gain-
C9orf3-
-
-
-
3Gain-
C9orf40-
-
-
-
3Gain-
C9orf43-
-
-
-
3Gain-
C9orf57-
-
-
-
3Gain-
C9orf64-
-
-
-
3Gain-
C9orf66-
-
-
-
1Loss-
C9orf84-
-
-
-
3Gain-
C9orf85-
-
-
-
3Gain-
C9orf92-
-
-
-
1Loss-
CA12-
-
-
-
1Loss-
CA14-
-
-
-
3Gain-
CA5A-
-
-
-
1Loss-
CA7-
-
-
-
1Loss-
CAB39-
-
-
-
1Loss-
CAB39L-
-
-
-
1Loss-
CABCOCO1-
-
-
-
1Loss-
CABLES1-
-
-
-
7Amp-
CABLES2-
-
-
-
3Gain-
CABS1-
-
-
-
1Loss-
CABYR-
-
-
-
9Amp-
CACNA1A-
-
-
-
3Gain-
CACNA1C-
-
-
-
3Gain-
CACNA1D-
-
-
-
1Loss-
CACNA1E-
-
-
-
1Loss-
CACNA1H-
-
-
-
1Loss-
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACNA2D4-
-
-
-
3Gain-
CACNB2-
-
-
-
5Amp-
CACNB3-
-
-
-
1Loss-
CACNB4-
-
-
-
1Loss-
CACNG3-
-
-
-
3Gain-
CACNG6-
-
-
-
3Gain-
CACNG7-
-
-
-
3Gain-
CACNG8-
-
-
-
3Gain-
CACTIN-
-
-
-
1Loss-
CACUL1-
-
-
-
1Loss-
CADM2-
-
-
-
1Loss-
CADM3-
-
-
-
3Gain-
CADM4-
-
-
-
1Loss-
CADPS-
-
-
-
1Loss-
CADPS2-
-
-
-
1Loss-
CAGE1-
-
-
-
3Gain-
CALB2-
-
-
-
1Loss-
CALCA-
-
-
-
1Loss-
CALCB-
-
-
-
1Loss-
CALCOCO1-
-
-
-
1Loss-
CALD1-
-
-
-
1Loss-
CALHM1-
-
-
-
1Loss-
CALHM2-
-
-
-
1Loss-
CALHM3-
-
-
-
1Loss-
CALHM4-
-
-
-
1Loss-
CALHM5-
-
-
-
1Loss-
CALHM6-
-
-
-
1Loss-
CALM3-
-
-
-
1Loss-
CALML3-
-
-
-
5Amp-
CALML4-
-
-
-
1Loss-
CALML5-
-
-
-
5Amp-
CALR-
-
-
-
3Gain-
CALR3-
-
-
-
1Loss-
CALU-
-
-
-
1Loss-
CALY-
-
-
-
1Loss-
CAMK1D-
-
-
-
5Amp-
CAMK2A-
-
-
-
1Loss-
CAMK2B-
-
-
-
1Loss-
CAMK2G-
-
-
-
1Loss-
CAMK2N1-
-
-
-
1Loss-
CAMK4-
-
-
-
1Loss-
CAMKK1-
-
-
-
1Loss-
CAMKV-
-
-
-
1Loss-
CAMLG-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMSAP3-
-
-
-
3Gain-
CAMTA2-
-
-
-
1Loss-
CAND1-
-
-
-
1Loss-
CAPN10-
-
-
-
1Loss-
CAPN12-
-
-
-
1Loss-
CAPN15-
-
-
-
1Loss-
CAPN3-
-
-
-
1Loss-
CAPNS1-
-
-
-
1Loss-
CAPNS2-
-
-
-
1Loss-
CAPS-
-
-
-
1Loss-
CAPS2-
-
-
-
1Loss-
CAPZA2-
-
-
-
1Loss-
CAPZB-
-
-
-
1Loss-
CARD14p.S202L
Missense
SNP
0.509
2--
CARD19-
-
-
-
3Gain-
CARF-
-
-
-
1Loss-
CARHSP1-
-
-
-
3Gain-
CARM1-
-
-
-
3Gain-
CARMIL1-
-
-
-
7Amp-
CARMIL2-
-
-
-
1Loss-
CARNMT1-
-
-
-
3Gain-
CARS-
-
-
-
1Loss-
CARTPT-
-
-
-
1Loss-
CASC10-
-
-
-
5Amp-
CASC4-
-
-
-
1Loss-
CASKIN1-
-
-
-
1Loss-
CASP10-
-
-
-
1Loss-
CASP14-
-
-
-
1Loss-
CASP3-
-
-
-
1Loss-
CASP7-
-
-
-
1Loss-
CASP8-
-
-
-
1Loss-
CASP8AP2-
-
-
-
1Loss-
CASP9-
-
-
-
1Loss-
CASQ1-
-
-
-
3Gain-
CAST-
-
-
-
1Loss-
CASTOR3-
-
-
-
1Loss-
CASZ1-
-
-
-
1Loss-
CATIP-
-
-
-
1Loss-
CATSPER2-
-
-
-
1Loss-
CATSPER3-
-
-
-
1Loss-
CATSPER4-
-
-
-
1Loss-
CATSPERD-
-
-
-
1Loss-
CATSPERG-
-
-
-
1Loss-
CAV1-
-
-
-
1Loss-
CAV2-
-
-
-
1Loss-
CAVIN3-
-
-
-
1Loss-
CAVIN4-
-
-
-
3Gain-
CBARP-
-
-
-
1Loss-
CBFA2T3-
-
-
-
1Loss-
CBFB-
-
-
-
1Loss-
CBLC-
-
-
-
1Loss-
CBLL1-
-
-
-
1Loss-
CBLN1-
-
-
-
1Loss-
CBLN2-
-
-
-
1Loss-
CBR4-
-
-
-
1Loss-
CBWD1-
-
-
-
1Loss-
CBX3-
-
-
-
1Loss-
CBX5-
-
-
-
1Loss-
CC2D2A-
-
-
-
3Gain-
CC2D2B-
-
-
-
1Loss-
CCAR1-
-
-
-
1Loss-
CCAR2-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC102A-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC105-
-
-
-
1Loss-
CCDC110-
-
-
-
1Loss-
CCDC112-
-
-
-
1Loss-
CCDC113-
-
-
-
1Loss-
CCDC115-
-
-
-
3Gain-
CCDC12-
-
-
-
1Loss-
CCDC122-
-
-
-
1Loss-
CCDC124-
-
-
-
1Loss-
CCDC125-
-
-
-
1Loss-
CCDC126-
-
-
-
1Loss-
CCDC127-
-
-
-
1Loss-
CCDC13-
-
-
-
1Loss-
CCDC136-
-
-
-
1Loss-
CCDC140-
-
-
-
1Loss-
CCDC144A-
-
-
-
1Loss-
CCDC144NL-
-
-
-
1Loss-
CCDC148-
-
-
-
1Loss-
CCDC149-
-
-
-
1Loss-
CCDC151-
-
-
-
3Gain-
CCDC154-
-
-
-
1Loss-
CCDC158-
-
-
-
1Loss-
CCDC159-
-
-
-
3Gain-
CCDC169-
-
-
-
1Loss-
CCDC169-SOHLH2-
-
-
-
1Loss-
CCDC171-
-
-
-
1Loss-
CCDC172-
-
-
-
1Loss-
CCDC178-
-
-
-
1Loss-
CCDC179-
-
-
-
1Loss-
CCDC180-
-
-
-
3Gain-
CCDC184-
-
-
-
1Loss-
CCDC186-
-
-
-
1Loss-
CCDC188-
-
-
-
1Loss-
CCDC189-
-
-
-
3Gain-
CCDC194-
-
-
-
1Loss-
CCDC3-
-
-
-
5Amp-
CCDC32-
-
-
-
1Loss-
CCDC33-
-
-
-
1Loss-
CCDC36-
-
-
-
1Loss-
CCDC38-
-
-
-
1Loss-
CCDC42-
-
-
-
1Loss-
CCDC51-
-
-
-
1Loss-
CCDC59-
-
-
-
1Loss-
CCDC6-
-
-
-
1Loss-
CCDC61-
-
-
-
1Loss-
CCDC65-
-
-
-
1Loss-
CCDC66-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC69-
-
-
-
1Loss-
CCDC70-
-
-
-
1Loss-
CCDC71-
-
-
-
1Loss-
CCDC71L-
-
-
-
1Loss-
CCDC74A-
-
-
-
3Gain-
CCDC74B-
-
-
-
3Gain-
CCDC77-
-
-
-
3Gain-
CCDC78-
-
-
-
1Loss-
CCDC8-
-
-
-
1Loss-
CCDC96-
-
-
-
1Loss-
CCDC97-
-
-
-
1Loss-
CCDC9B-
-
-
-
1Loss-
CCER1-
-
-
-
1Loss-
CCER2-
-
-
-
1Loss-
CCK-
-
-
-
1Loss-
CCKAR-
-
-
-
3Gain-
CCKBR-
-
-
-
1Loss-
CCL17-
-
-
-
1Loss-
CCL20-
-
-
-
1Loss-
CCL22-
-
-
-
1Loss-
CCL25-
-
-
-
3Gain-
CCM2-
-
-
-
1Loss-
CCNA1-
-
-
-
1Loss-
CCNB1-
-
-
-
1Loss-
CCNB2-
-
-
-
1Loss-
CCNC-
-
-
-
1Loss-
CCND2-
-
-
-
3Gain-
CCNDBP1-
-
-
-
1Loss-
CCNE1-
-
-
-
1Loss-
CCNF-
-
-
-
1Loss-
CCNG1-
-
-
-
1Loss-
CCNG2-
-
-
-
1Loss-
CCNH-
-
-
-
1Loss-
CCNI-
-
-
-
1Loss-
CCNI2-
-
-
-
1Loss-
CCNJ-
-
-
-
1Loss-
CCNJL-
-
-
-
1Loss-
CCNO-
-
-
-
1Loss-
CCNT1-
-
-
-
1Loss-
CCNT2-
-
-
-
1Loss-
CCNYL1-
-
-
-
1Loss-
CCP110-
-
-
-
3Gain-
CCPG1-
-
-
-
1Loss-
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCSER1-
-
-
-
1Loss-
CCSER2-
-
-
-
1Loss-
CCT2-
-
-
-
1Loss-
CCT3-
-
-
-
3Gain-
CCT5-
-
-
-
1Loss-
CCT8L2-
-
-
-
1Loss-
CCZ1B-
-
-
-
3Gain-
CD109-
-
-
-
3Gain-
CD14-
-
-
-
1Loss-
CD151-
-
-
-
1Loss-
CD163-
-
-
-
3Gain-
CD163L1-
-
-
-
3Gain-
CD164-
-
-
-
1Loss-
CD164L2-
-
-
-
1Loss-
CD177-
-
-
-
1Loss-
CD180-
-
-
-
1Loss-
CD19-
-
-
-
3Gain-
CD1A-
-
-
-
3Gain-
CD1B-
-
-
-
3Gain-
CD1C-
-
-
-
3Gain-
CD1D-
-
-
-
3Gain-
CD1E-
-
-
-
3Gain-
CD209-
-
-
-
3Gain-
CD22-
-
-
-
1Loss-
CD226-
-
-
-
1Loss-
CD24-
-
-
-
1Loss-
CD27-
-
-
-
3Gain-
CD276-
-
-
-
1Loss-
CD28-
-
-
-
1Loss-
CD2AP-
-
-
-
1Loss-
CD2BP2-
-
-
-
3Gain-
CD302-
-
-
-
1Loss-
CD320-
-
-
-
3Gain-
CD38-
-
-
-
3Gain-
CD3EAP-
-
-
-
1Loss-
CD4-
-
-
-
3Gain-
CD52-
-
-
-
1Loss-
CD5L-
-
-
-
3Gain-
CD63-
-
-
-
1Loss-
CD68-
-
-
-
1Loss-
CD70-
-
-
-
3Gain-
CD74-
-
-
-
1Loss-
CD79A-
-
-
-
1Loss-
CD81-
-
-
-
1Loss-
CD83-
-
-
-
3Gain-
CD9-
-
-
-
3Gain-
CD93-
-
-
-
1Loss-
CDA-
-
-
-
1Loss-
CDADC1-
-
-
-
1Loss-
CDAN1-
-
-
-
1Loss-
CDC123-
-
-
-
5Amp-
CDC14B-
-
-
-
3Gain-
CDC14C-
-
-
-
1Loss-
CDC20B-
-
-
-
1Loss-
CDC23-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC25B-
-
-
-
1Loss-
CDC25C-
-
-
-
1Loss-
CDC26-
-
-
-
3Gain-
CDC34-
-
-
-
1Loss-
CDC37-
-
-
-
3Gain-
CDC40-
-
-
-
1Loss-
CDC42-
-
-
-
1Loss-
CDC42EP5-
-
-
-
3Gain-
CDC42SE1-
-
-
-
3Gain-
CDC42SE2-
-
-
-
1Loss-
CDC45-
-
-
-
1Loss-
CDCA2-
-
-
-
1Loss-
CDCA3-
-
-
-
3Gain-
CDCA7L-
-
-
-
1Loss-
CDCP1-
-
-
-
1Loss-
CDH1-
-
-
-
1Loss-
CDH11-
-
-
-
1Loss-
CDH12-
-
-
-
3Gain-
CDH13-
-
-
-
1Loss-
CDH15-
-
-
-
1Loss-
CDH16-
-
-
-
1Loss-
CDH18-
-
-
-
3Gain-
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
1Loss-
CDH20-
-
-
-
1Loss-
CDH23-
-
-
-
1Loss-
CDH26-
-
-
-
3Gain-
CDH3-
-
-
-
1Loss-
CDH4-
-
-
-
3Gain-
CDH5-
-
-
-
1Loss-
CDH6-
-
-
-
1Loss-
CDH7-
-
-
-
1Loss-
CDH8-
-
-
-
1Loss-
CDH9-
-
-
-
1Loss-
CDHR1-
-
-
-
1Loss-
CDHR3-
-
-
-
1Loss-
CDHR4-
-
-
-
1Loss-
CDHR5-
-
-
-
1Loss-
CDIP1-
-
-
-
1Loss-
CDIPT-
-
-
-
3Gain-
CDK1-
-
-
-
1Loss-
CDK10-
-
-
-
1Loss-
CDK13-
-
-
-
1Loss-
CDK15-
-
-
-
1Loss-
CDK17-
-
-
-
1Loss-
CDK19-
-
-
-
1Loss-
CDK2-
-
-
-
1Loss-
CDK20-
-
-
-
3Gain-
CDK4-
-
-
-
1Loss-
CDK5R2-
-
-
-
1Loss-
CDK7-
-
-
-
1Loss-
CDK8-
-
-
-
1Loss-
CDKAL1-
-
-
-
13Amp-
CDKL2-
-
-
-
1Loss-
CDKL3-
-
-
-
1Loss-
CDKN1C-
-
-
-
1Loss-
CDKN2A-
-
-
-
1Loss-
CDKN2AIP-
-
-
-
1Loss-
CDKN2AIPNL-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDKN2D-
-
-
-
3Gain-
CDNF-
-
-
-
5Amp-
CDO1-
-
-
-
1Loss-
CDR2-
-
-
-
3Gain-
CDRT1-
-
-
-
1Loss-
CDRT15L2-
-
-
-
1Loss-
CDRT4-
-
-
-
1Loss-
CDS1-
-
-
-
1Loss-
CDS2-
-
-
-
1Loss-
CDT1-
-
-
-
1Loss-
CDX1-
-
-
-
1Loss-
CDX2-
-
-
-
1Loss-
CDYL-
-
-
-
3Gain-
CDYL2-
-
-
-
1Loss-
CEACAM1-
-
-
-
1Loss-
CEACAM16-
-
-
-
1Loss-
CEACAM19-
-
-
-
1Loss-
CEACAM20-
-
-
-
1Loss-
CEACAM21-
-
-
-
1Loss-
CEACAM3-
-
-
-
1Loss-
CEACAM4-
-
-
-
1Loss-
CEACAM5-
-
-
-
1Loss-
CEACAM6-
-
-
-
1Loss-
CEACAM7-
-
-
-
1Loss-
CEACAM8-
-
-
-
1Loss-
CEBPA-
-
-
-
1Loss-
CEBPG-
-
-
-
1Loss-
CECR2-
-
-
-
1Loss-
CELA1-
-
-
-
1Loss-
CELA2A-
-
-
-
1Loss-
CELA2B-
-
-
-
1Loss-
CELA3A-
-
-
-
1Loss-
CELA3B-
-
-
-
1Loss-
CELF2-
-
-
-
5Amp-
CELF3-
-
-
-
3Gain-
CELF4-
-
-
-
1Loss-
CELF5-
-
-
-
1Loss-
CELF6-
-
-
-
1Loss-
CELSR3-
-
-
-
1Loss-
CEMIP-
-
-
-
1Loss-
CEMIP2-
-
-
-
3Gain-
CEMP1-
-
-
-
1Loss-
CEND1-
-
-
-
1Loss-
CENPB-
-
-
-
1Loss-
CENPBD1-
-
-
-
1Loss-
CENPC-
-
-
-
1Loss-
CENPH-
-
-
-
1Loss-
CENPJ-
-
-
-
1Loss-
CENPK-
-
-
-
1Loss-
CENPN-
-
-
-
1Loss-
CENPP-
-
-
-
3Gain-
CENPQ-
-
-
-
1Loss-
CENPS-
-
-
-
1Loss-
CENPS-CORT-
-
-
-
1Loss-
CENPT-
-
-
-
1Loss-
CENPU-
-
-
-
1Loss-
CENPV-
-
-
-
1Loss-
CENPW-
-
-
-
1Loss-
CEP120-
-
-
-
1Loss-
CEP126-
-
-
-
2-CEP126--PSMD13
CEP135-
-
-
-
3Gain-
CEP152-
-
-
-
1Loss-
CEP162-
-
-
-
1Loss-
CEP250-
-
-
-
2-CEP250--RNA5-8SN2
CEP290-
-
-
-
1Loss-
CEP350-
-
-
-
1Loss-
CEP41-
-
-
-
1Loss-
CEP44-
-
-
-
1Loss-
CEP55-
-
-
-
1Loss-
CEP57L1-
-
-
-
1Loss-
CEP72-
-
-
-
1Loss-
CEP78-
-
-
-
3Gain-
CEP83-
-
-
-
1Loss-
CEP85-
-
-
-
1Loss-
CEP85L-
-
-
-
1Loss-
CEP89-
-
-
-
1Loss-
CER1-
-
-
-
1Loss-
CERS1-
-
-
-
1Loss-
CERS2-
-
-
-
3Gain-
CERS3-
-
-
-
1Loss-
CERS4-
-
-
-
3Gain-
CERS5-
-
-
-
1Loss-
CES1-
-
-
-
1Loss-
CES2-
-
-
-
1Loss-
CES3-
-
-
-
1Loss-
CES4A-
-
-
-
1Loss-
CES5A-
-
-
-
1Loss-
CETN3-
-
-
-
1Loss-
CETP-
-
-
-
1Loss-
CFAP161-
-
-
-
1Loss-
CFAP20-
-
-
-
1Loss-
CFAP206-
-
-
-
1Loss-
CFAP221-
-
-
-
3Gain-
CFAP299-
-
-
-
1Loss-
CFAP43-
-
-
-
1Loss-
CFAP45-
-
-
-
3Gain-
CFAP46-
-
-
-
1Loss-
CFAP52-
-
-
-
1Loss-
CFAP53-
-
-
-
1Loss-
CFAP54-
-
-
-
1Loss-
CFAP58-
-
-
-
1Loss-
CFAP61-
-
-
-
1Loss-
CFAP65-
-
-
-
1Loss-
CFAP70-
-
-
-
1Loss-
CFAP97-
-
-
-
1Loss-
CFAP99-
-
-
-
1Loss-
CFC1-
-
-
-
3Gain-
CFC1B-
-
-
-
3Gain-
CFD-
-
-
-
1Loss-
CFDP1-
-
-
-
1Loss-
CFLAR-
-
-
-
1Loss-
CFTR-
-
-
-
1Loss-
CGA-
-
-
-
1Loss-
CGAS-
-
-
-
3Gain-
CGGBP1-
-
-
-
1Loss-
CGN-
-
-
-
3Gain-
CGNL1-
-
-
-
1Loss-
CH25H-
-
-
-
1Loss-
CHAC1-
-
-
-
1Loss-
CHAF1A-
-
-
-
1Loss-
CHAMP1-
-
-
-
3Gain-
CHAT-
-
-
-
1Loss-
CHCHD1-
-
-
-
1Loss-
CHCHD3-
-
-
-
1Loss-
CHD1-
-
-
-
1Loss-
CHD2-
-
-
-
1Loss-
CHD3-
-
-
-
1Loss-
CHD4-
-
-
-
3Gain-
CHD9-
-
-
-
1Loss-
CHDH-
-
-
-
1Loss-
CHERP-
-
-
-
1Loss-
CHGB-
-
-
-
1Loss-
CHIC2-
-
-
-
3Gain-
CHID1-
-
-
-
1Loss-
CHMP1A-
-
-
-
1Loss-
CHMP2A-
-
-
-
3Gain-
CHMP2B-
-
-
-
1Loss-
CHMP7-
-
-
-
1Loss-
CHN2-
-
-
-
1Loss-
CHP1-
-
-
-
1Loss-
CHP2-
-
-
-
3Gain-
CHPF-
-
-
-
1Loss-
CHPT1-
-
-
-
1Loss-
CHRFAM7A-
-
-
-
1Loss-
CHRM5-
-
-
-
1Loss-
CHRNA10-
-
-
-
1Loss-
CHRNA3-
-
-
-
1Loss-
CHRNA4-
-
-
-
3Gain-
CHRNA5-
-
-
-
1Loss-
CHRNA7-
-
-
-
1Loss-
CHRNA9-
-
-
-
1Loss-
CHRNB1-
-
-
-
1Loss-
CHRNB2-
-
-
-
3Gain-
CHRNB4-
-
-
-
1Loss-
CHRND-
-
-
-
1Loss-
CHRNE-
-
-
-
1Loss-
CHRNG-
-
-
-
1Loss-
CHST11-
-
-
-
1Loss-
CHST14-
-
-
-
1Loss-
CHST15-
-
-
-
1Loss-
CHST3-
-
-
-
1Loss-
CHST4-
-
-
-
1Loss-
CHST5-
-
-
-
1Loss-
CHST6-
-
-
-
1Loss-
CHST8-
-
-
-
1Loss-
CHST9-
-
-
-
1Loss-
CHSY1-
-
-
-
1Loss-
CHSY3-
-
-
-
1Loss-
CHTF18-
-
-
-
1Loss-
CHTF8-
-
-
-
1Loss-
CHTOP-
-
-
-
3Gain-
CHUK-
-
-
-
1Loss-
CIAO2A-
-
-
-
1Loss-
CIAO2B-
-
-
-
1Loss-
CIAO3-
-
-
-
1Loss-
CIAPIN1-
-
-
-
1Loss-
CIART-
-
-
-
3Gain-
CIB1-
-
-
-
1Loss-
CIB2-
-
-
-
1Loss-
CIB3-
-
-
-
1Loss-
CIC-
-
-
-
1Loss-
CIITA-
-
-
-
3Gain-
CILP-
-
-
-
1Loss-
CILP2-
-
-
-
1Loss-
CIRBP-
-
-
-
1Loss-
CISD1-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CKAP2-
-
-
-
1Loss-
CKAP4-
-
-
-
1Loss-
CKLF-
-
-
-
1Loss-
CKLF-CMTM1-
-
-
-
1Loss-
CKM-
-
-
-
1Loss-
CKMT1A-
-
-
-
1Loss-
CKMT1B-
-
-
-
1Loss-
CKMT2-
-
-
-
1Loss-
CKS1B-
-
-
-
3Gain-
CKS2-
-
-
-
3Gain-
CLASP1-
-
-
-
3Gain-
CLASRP-
-
-
-
1Loss-
CLC-
-
-
-
1Loss-
CLCN3-
-
-
-
1Loss-
CLCN6-
-
-
-
1Loss-
CLCN7-
-
-
-
1Loss-
CLCNKA-
-
-
-
1Loss-
CLCNKB-
-
-
-
1Loss-
CLDN15-
-
-
-
1Loss-
CLDN22-
-
-
-
1Loss-
CLDN23-
-
-
-
1Loss-
CLDN24-
-
-
-
1Loss-
CLDN5-
-
-
-
1Loss-
CLDN6-
-
-
-
1Loss-
CLDN7-
-
-
-
1Loss-
CLDN9-
-
-
-
1Loss-
CLEC10A-
-
-
-
1Loss-
CLEC16A-
-
-
-
3Gain-
CLEC17A-
-
-
-
1Loss-
CLEC18A-
-
-
-
1Loss-
CLEC18B-
-
-
-
1Loss-
CLEC18C-
-
-
-
1Loss-
CLEC19A-
-
-
-
3Gain-
CLEC3A-
-
-
-
1Loss-
CLEC3B-
-
-
-
1Loss-
CLEC4A-
-
-
-
3Gain-
CLEC4C-
-
-
-
3Gain-
CLEC4D-
-
-
-
3Gain-
CLEC4E-
-
-
-
3Gain-
CLEC4G-
-
-
-
3Gain-
CLEC4M-
-
-
-
3Gain-
CLEC6A-
-
-
-
3Gain-
CLIC4-
-
-
-
1Loss-
CLIC5-
-
-
-
1Loss-
CLINT1-
-
-
-
1Loss-
CLIP3-
-
-
-
1Loss-
CLK2-
-
-
-
3Gain-
CLK3-
-
-
-
1Loss-
CLLU1OS-
-
-
-
1Loss-
CLN3-
-
-
-
3Gain-
CLN6-
-
-
-
1Loss-
CLN8-
-
-
-
0Del-
CLNK-
-
-
-
1Loss-
CLOCK-
-
-
-
3Gain-
CLPP-
-
-
-
1Loss-
CLPTM1-
-
-
-
1Loss-
CLPTM1L-
-
-
-
1Loss-
CLPX-
-
-
-
1Loss-
CLRN2-
-
-
-
3Gain-
CLRN3-
-
-
-
1Loss-
CLSTN1-
-
-
-
1Loss-
CLSTN3-
-
-
-
3Gain-
CLTCL1-
-
-
-
1Loss-
CLUAP1-
-
-
-
1Loss-
CLUH-
-
-
-
1Loss-
CLVS2-
-
-
-
1Loss-
CMBL-
-
-
-
1Loss-
CMC2-
-
-
-
1Loss-
CMC4-
-
-
-
NDNDPLPBP--CMC4
CMIP-
-
-
-
1Loss-
CMTM1-
-
-
-
1Loss-
CMTM2-
-
-
-
1Loss-
CMTM3-
-
-
-
1Loss-
CMTM4-
-
-
-
1Loss-
CMTR2-
-
-
-
1Loss-
CMYA5-
-
-
-
1Loss-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNEP1R1-
-
-
-
1Loss-
CNFN-
-
-
-
1Loss-
CNGA1-
-
-
-
1Loss-
CNGA4-
-
-
-
1Loss-
CNGB1-
-
-
-
1Loss-
CNKSR1-
-
-
-
1Loss-
CNN1-
-
-
-
3Gain-
CNN2-
-
-
-
1Loss-
CNNM1-
-
-
-
1Loss-
CNNM2-
-
-
-
1Loss-
CNOT1-
-
-
-
1Loss-
CNOT2-
-
-
-
1Loss-
CNOT3-
-
-
-
3Gain-
CNOT4-
-
-
-
1Loss-
CNOT6L-
-
-
-
1Loss-
CNOT7-
-
-
-
1Loss-
CNOT8-
-
-
-
1Loss-
CNOT9-
-
-
-
1Loss-
CNPPD1-
-
-
-
1Loss-
CNPY2-
-
-
-
1Loss-
CNPY4-
-
-
-
1Loss-
CNR1-
-
-
-
1Loss-
CNR2-
-
-
-
1Loss-
CNTD2-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTN1-
-
-
-
1Loss-
CNTN3-
-
-
-
1Loss-
CNTNAP4p.G966E
Missense
SNP
1.000
1Loss-
CNTNAP5-
-
-
-
3Gain-
CNTROB-
-
-
-
1Loss-
COA1-
-
-
-
1Loss-
COBLL1-
-
-
-
1Loss-
COG3-
-
-
-
1Loss-
COG4-
-
-
-
1Loss-
COG5-
-
-
-
1Loss-
COG6-
-
-
-
1Loss-
COG7-
-
-
-
3Gain-
COG8-
-
-
-
1Loss-
COL10A1-
-
-
-
1Loss-
COL12A1-
-
-
-
3Gain-
COL13A1-
-
-
-
1Loss-
COL15A1-
-
-
-
3Gain-
COL17A1-
-
-
-
1Loss-
COL19A1-
-
-
-
3Gain-
COL20A1-
-
-
-
3Gain-
COL21A1-
-
-
-
5Amp-
COL23A1-
-
-
-
1Loss-
COL26A1-
-
-
-
1Loss-
COL27A1-
-
-
-
3Gain-
COL28A1-
-
-
-
3Gain-
COL2A1-
-
-
-
1Loss-
COL4A3-
-
-
-
1Loss-
COL4A3BP-
-
-
-
1Loss-
COL4A4-
-
-
-
1Loss-
COL5A3-
-
-
-
3Gain-
COL6A3-
-
-
-
1Loss-
COL7A1-
-
-
-
1Loss-
COL9A1-
-
-
-
3Gain-
COL9A3-
-
-
-
3Gain-
COLGALT1-
-
-
-
1Loss-
COMMD10-
-
-
-
1Loss-
COMMD3-
-
-
-
5Amp-
COMMD3-BMI1-
-
-
-
5Amp-
COMMD4-
-
-
-
1Loss-
COMMD8-
-
-
-
1Loss-
COMP-
-
-
-
1Loss-
COMT-
-
-
-
1Loss-
COMTD1-
-
-
-
3Gain-
COP1-
-
-
-
1Loss-
COPA-
-
-
-
3Gain-
COPB1-
-
-
-
1Loss-
COPE-
-
-
-
1Loss-
COPG2-
-
-
-
1Loss-
COPS2-
-
-
-
1Loss-
COPS3-
-
-
-
1Loss-
COPS4-
-
-
-
1Loss-
COPS6-
-
-
-
1Loss-
COPS7A-
-
-
-
3Gain-
COPS7B-
-
-
-
1Loss-
COPS8-
-
-
-
1Loss-
COPS9-
-
-
-
1Loss-
COPZ1-
-
-
-
1Loss-
COQ10A-
-
-
-
1Loss-
COQ2-
-
-
-
1Loss-
COQ3-
-
-
-
1Loss-
COQ7-
-
-
-
3Gain-
COQ8B-
-
-
-
1Loss-
COQ9-
-
-
-
1Loss-
CORIN-
-
-
-
1Loss-
CORO1A-
-
-
-
3Gain-
CORO2A-
-
-
-
3Gain-
CORO2B-
-
-
-
1Loss-
CORO7-
-
-
-
1Loss-
CORO7-PAM16-
-
-
-
1Loss-
CORT-
-
-
-
1Loss-
COTL1-
-
-
-
1Loss-
COX10-
-
-
-
1Loss-
COX14-
-
-
-
1Loss-
COX15-
-
-
-
1Loss-
COX18-
-
-
-
1Loss-
COX4I1-
-
-
-
1Loss-
COX5A-
-
-
-
1Loss-
COX6A2-
-
-
-
3Gain-
COX6B1-
-
-
-
1Loss-
COX7A1-
-
-
-
1Loss-
COX7A2-
-
-
-
3Gain-
COX7B2-
-
-
-
1Loss-
CPA1-
-
-
-
1Loss-
CPA2-
-
-
-
1Loss-
CPA4-
-
-
-
1Loss-
CPA5-
-
-
-
1Loss-
CPAMD8-
-
-
-
1Loss-
CPB2-
-
-
-
1Loss-
CPE-
-
-
-
1Loss-
CPEB1-
-
-
-
1Loss-
CPEB2-
-
-
-
3Gain-
CPEB3-
-
-
-
1Loss-
CPEB4-
-
-
-
1Loss-
CPED1-
-
-
-
1Loss-
CPLANE2-
-
-
-
1Loss-
CPLX3-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPM-
-
-
-
1Loss-
CPN1-
-
-
-
1Loss-
CPNE2-
-
-
-
1Loss-
CPNE7-
-
-
-
1Loss-
CPO-
-
-
-
1Loss-
CPPED1-
-
-
-
3Gain-
CPS1-
-
-
-
1Loss-
CPSF4-
-
-
-
1Loss-
CPSF6-
-
-
-
1Loss-
CPVL-
-
-
-
1Loss-
CPXM1-
-
-
-
1Loss-
CPXM2-
-
-
-
1Loss-
CPZ-
-
-
-
1Loss-
CRABP1-
-
-
-
1Loss-
CRABP2-
-
-
-
3Gain-
CRACR2A-
-
-
-
3Gain-
CRACR2B-
-
-
-
1Loss-
CRADD-
-
-
-
1Loss-
CRAMP1-
-
-
-
1Loss-
CRB3-
-
-
-
1Loss-
CRCT1-
-
-
-
3Gain-
CREB1-
-
-
-
1Loss-
CREB3L3-
-
-
-
1Loss-
CREB3L4-
-
-
-
3Gain-
CREB5-
-
-
-
1Loss-
CREBBP-
-
-
-
1Loss-
CREBRF-
-
-
-
1Loss-
CRHBP-
-
-
-
1Loss-
CRHR2-
-
-
-
1Loss-
CRISP1-
-
-
-
1Loss-
CRISP2-
-
-
-
1Loss-
CRISP3-
-
-
-
1Loss-
CRISPLD2-
-
-
-
1Loss-
CRK-
-
-
-
1Loss-
CRLF1-
-
-
-
1Loss-
CRLS1-
-
-
-
1Loss-
CRMP1-
-
-
-
1Loss-
CRNKL1-
-
-
-
1Loss-
CRNN-
-
-
-
5Amp-
CROCC-
-
-
-
1Loss-
CROCC2-
-
-
-
1Loss-
CROTp.S570L
Missense
SNP
0.513
2--
CRP-
-
-
-
3Gain-
CRTAC1-
-
-
-
1Loss-
CRTC1-
-
-
-
1Loss-
CRTC2-
-
-
-
3Gain-
CRTC3-
-
-
-
1Loss-
CRY1-
-
-
-
1Loss-
CRYBA2-
-
-
-
1Loss-
CRYBG1-
-
-
-
1Loss-
CRYBG2-
-
-
-
1Loss-
CRYGA-
-
-
-
1Loss-
CRYGB-
-
-
-
1Loss-
CRYGC-
-
-
-
1Loss-
CRYGD-
-
-
-
1Loss-
CRYL1-
-
-
-
1Loss-
CRYM-
-
-
-
3Gain-
CS-
-
-
-
1Loss-
CSAD-
-
-
-
1Loss-
CSF1R-
-
-
-
1Loss-
CSF2-
-
-
-
1Loss-
CSGALNACT1-
-
-
-
1Loss-
CSK-
-
-
-
1Loss-
CSMD1-
-
-
-
1Loss-
CSMD3p.Q2077*
Nonsense
SNP
0.496
2--
CSN1S1-
-
-
-
1Loss-
CSN2-
-
-
-
1Loss-
CSN3-
-
-
-
1Loss-
CSNK1A1-
-
-
-
1Loss-
CSNK1A1L-
-
-
-
1Loss-
CSNK1G1-
-
-
-
1Loss-
CSNK1G2-
-
-
-
1Loss-
CSNK1G3-
-
-
-
1Loss-
CSNK2A1-
-
-
-
1Loss-
CSNK2A2-
-
-
-
1Loss-
CSNK2A3-
-
-
-
1Loss-
CSPG4-
-
-
-
1Loss-
CSPG5-
-
-
-
1Loss-
CSRNP1-
-
-
-
1Loss-
CSRNP2-
-
-
-
1Loss-
CSRNP3-
-
-
-
1Loss-
CSRP2-
-
-
-
1Loss-
CSRP3-
-
-
-
1Loss-
CST1-
-
-
-
1Loss-
CST11-
-
-
-
1Loss-
CST2-
-
-
-
1Loss-
CST3-
-
-
-
1Loss-
CST4-
-
-
-
1Loss-
CST5-
-
-
-
1Loss-
CST7-
-
-
-
1Loss-
CST8-
-
-
-
1Loss-
CST9-
-
-
-
1Loss-
CST9L-
-
-
-
1Loss-
CSTF2T-
-
-
-
1Loss-
CSTL1-
-
-
-
1Loss-
CT62-
-
-
-
1Loss-
CTAGE1-
-
-
-
6Amp-
CTBP2-
-
-
-
1Loss-
CTC1-
-
-
-
1Loss-
CTCF-
-
-
-
1Loss-
CTDNEP1-
-
-
-
1Loss-
CTDP1-
-
-
-
1Loss-
CTDSP1-
-
-
-
1Loss-
CTDSP2-
-
-
-
1Loss-
CTDSPL-
-
-
-
1Loss-
CTDSPL2-
-
-
-
1Loss-
CTF1-
-
-
-
3Gain-
CTIF-
-
-
-
1Loss-
CTLA4-
-
-
-
1Loss-
CTNNA1-
-
-
-
1Loss-
CTNNA2p.R193K
Missense
SNP
0.444
2--
CTNNA3-
-
-
-
1Loss-
CTNNAL1-
-
-
-
3Gain-
CTNNB1-
-
-
-
1Loss-
CTNNBIP1-
-
-
-
1Loss-
CTNND2-
-
-
-
1Loss-
CTNS-
-
-
-
1Loss-
CTR9-
-
-
-
1Loss-
CTRB1-
-
-
-
1Loss-
CTRB2-
-
-
-
1Loss-
CTRC-
-
-
-
1Loss-
CTRL-
-
-
-
1Loss-
CTSB-
-
-
-
1Loss-
CTSD-
-
-
-
1Loss-
CTSH-
-
-
-
1Loss-
CTSK-
-
-
-
3Gain-
CTSL-
-
-
-
3Gain-
CTSS-
-
-
-
3Gain-
CTSV-
-
-
-
3Gain-
CTTNBP2-
-
-
-
1Loss-
CTU2-
-
-
-
1Loss-
CTXN1-
-
-
-
3Gain-
CTXN2-
-
-
-
1Loss-
CTXN3-
-
-
-
1Loss-
CUBN-
-
-
-
5Amp-
CUEDC2-
-
-
-
1Loss-
CUL3-
-
-
-
1Loss-
CUTC-
-
-
-
1Loss-
CUX1-
-
-
-
1Loss-
CUZD1-
-
-
-
1Loss-
CWC27-
-
-
-
1Loss-
CWF19L1-
-
-
-
1Loss-
CWH43-
-
-
-
3Gain-
CX3CL1-
-
-
-
1Loss-
CX3CR1-
-
-
-
1Loss-
CXCL1-
-
-
-
1Loss-
CXCL10-
-
-
-
1Loss-
CXCL11-
-
-
-
1Loss-
CXCL13-
-
-
-
1Loss-
CXCL14-
-
-
-
1Loss-
CXCL16-
-
-
-
1Loss-
CXCL17-
-
-
-
1Loss-
CXCL2-
-
-
-
1Loss-
CXCL3-
-
-
-
1Loss-
CXCL5-
-
-
-
1Loss-
CXCL6-
-
-
-
1Loss-
CXCL8-
-
-
-
1Loss-
CXCL9-
-
-
-
1Loss-
CXCR1-
-
-
-
1Loss-
CXCR2-
-
-
-
1Loss-
CXCR4-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CXXC1-
-
-
-
1Loss-
CXXC5-
-
-
-
1Loss-
CYB561D2-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5B-
-
-
-
1Loss-
CYB5D1-
-
-
-
1Loss-
CYB5D2-
-
-
-
1Loss-
CYB5R2-
-
-
-
1Loss-
CYB5R4-
-
-
-
1Loss-
CYBA-
-
-
-
1Loss-
CYCS-
-
-
-
1Loss-
CYFIP1-
-
-
-
3Gain-
CYFIP2-
-
-
-
1Loss-
CYLC2-
-
-
-
3Gain-
CYLD-
-
-
-
1Loss-
CYP11A1-
-
-
-
1Loss-
CYP17A1-
-
-
-
1Loss-
CYP19A1-
-
-
-
1Loss-
CYP1A1-
-
-
-
1Loss-
CYP1A2-
-
-
-
1Loss-
CYP20A1-
-
-
-
1Loss-
CYP26A1-
-
-
-
1Loss-
CYP26C1-
-
-
-
1Loss-
CYP27A1-
-
-
-
1Loss-
CYP27B1-
-
-
-
1Loss-
CYP27C1-
-
-
-
3Gain-
CYP2A13-
-
-
-
1Loss-
CYP2A6-
-
-
-
1Loss-
CYP2A7-
-
-
-
1Loss-
CYP2B6-
-
-
-
1Loss-
CYP2C18-
-
-
-
1Loss-
CYP2C19-
-
-
-
1Loss-
CYP2C8-
-
-
-
1Loss-
CYP2C9-
-
-
-
1Loss-
CYP2E1-
-
-
-
1Loss-
CYP2F1-
-
-
-
1Loss-
CYP2R1-
-
-
-
1Loss-
CYP2S1-
-
-
-
1Loss-
CYP39A1-
-
-
-
1Loss-
CYP3A4-
-
-
-
1Loss-
CYP3A43-
-
-
-
1Loss-
CYP3A5-
-
-
-
1Loss-
CYP3A7-
-
-
-
1Loss-
CYP3A7-CYP3A51P-
-
-
-
1Loss-
CYP4F11-
-
-
-
1Loss-
CYP4F12-
-
-
-
1Loss-
CYP4F2-
-
-
-
1Loss-
CYP4F22-
-
-
-
1Loss-
CYP4F3-
-
-
-
1Loss-
CYP4F8-
-
-
-
1Loss-
CYP4V2-
-
-
-
1Loss-
CYP8B1-
-
-
-
1Loss-
CYREN-
-
-
-
1Loss-
CYSLTR2-
-
-
-
1Loss-
CYSTM1-
-
-
-
1Loss-
CYTH3-
-
-
-
3Gain-
CYTIP-
-
-
-
1Loss-
CYTL1-
-
-
-
1Loss-
D2HGDH-
-
-
-
1Loss-
DACT3-
-
-
-
1Loss-
DAG1-
-
-
-
1Loss-
DALRD3-
-
-
-
1Loss-
DAND5-
-
-
-
3Gain-
DAP-
-
-
-
1Loss-
DAP3-
-
-
-
3Gain-
DAPK1-
-
-
-
3Gain-
DAPK2-
-
-
-
1Loss-
DAPK3-
-
-
-
1Loss-
DAPL1-
-
-
-
1Loss-
DARS-
-
-
-
1Loss-
DAW1-
-
-
-
1Loss-
DAZAP1-
-
-
-
1Loss-
DAZAP2-
-
-
-
1Loss-
DBI-
-
-
-
3Gain-
DBNDD1-
-
-
-
1Loss-
DBNL-
-
-
-
1Loss-
DBX1-
-
-
-
1Loss-
DBX2-
-
-
-
1Loss-
DCAF1-
-
-
-
1Loss-
DCAF16-
-
-
-
3Gain-
DCAF4L1-
-
-
-
1Loss-
DCAF8-
-
-
-
3Gain-
DCANP1-
-
-
-
1Loss-
DCBLD1-
-
-
-
1Loss-
DCC-
-
-
-
1Loss-
DCD-
-
-
-
1Loss-
DCDC2-
-
-
-
7Amp-
DCHS1-
-
-
-
1Loss-
DCK-
-
-
-
1Loss-
DCLK1-
-
-
-
1Loss-
DCLK3-
-
-
-
1Loss-
DCLRE1A-
-
-
-
1Loss-
DCLRE1C-
-
-
-
5Amp-
DCN-
-
-
-
1Loss-
DCP1A-
-
-
-
1Loss-
DCP1B-
-
-
-
3Gain-
DCP2-
-
-
-
1Loss-
DCST1-
-
-
-
3Gain-
DCST2-
-
-
-
3Gain-
DCTD-
-
-
-
1Loss-
DCTN2-
-
-
-
1Loss-
DCTN4-
-
-
-
1Loss-
DCTN5-
-
-
-
3Gain-
DCTPP1-
-
-
-
3Gain-
DCUN1D3-
-
-
-
3Gain-
DCUN1D4-
-
-
-
3Gain-
DDA1-
-
-
-
1Loss-
DDC-
-
-
-
1Loss-
DDI2-
-
-
-
1Loss-
DDIT3-
-
-
-
1Loss-
DDIT4-
-
-
-
1Loss-
DDN-
-
-
-
1Loss-
DDO-
-
-
-
1Loss-
DDOST-
-
-
-
1Loss-
DDRGK1-
-
-
-
1Loss-
DDX1-
-
-
-
2-NEMF--DDX1
DDX19A-
-
-
-
1Loss-
DDX19B-
-
-
-
1Loss-
DDX21-
-
-
-
1Loss-
DDX23-
-
-
-
1Loss-
DDX28-
-
-
-
1Loss-
DDX39A-
-
-
-
1Loss-
DDX4-
-
-
-
1Loss-
DDX43-
-
-
-
3Gain-
DDX46-
-
-
-
1Loss-
DDX49-
-
-
-
1Loss-
DDX50-
-
-
-
1Loss-
DDX56-
-
-
-
1Loss-
DDX60-
-
-
-
1Loss-
DDX60L-
-
-
-
1Loss-
DEAF1-
-
-
-
1Loss-
DEC1-
-
-
-
3Gain-
DECR2-
-
-
-
1Loss-
DEDD2-
-
-
-
1Loss-
DEF6p.P48L
Missense
SNP
1.000
2--
DEF8-
-
-
-
1Loss-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB110-
-
-
-
1Loss-
DEFB112-
-
-
-
1Loss-
DEFB113-
-
-
-
1Loss-
DEFB114-
-
-
-
1Loss-
DEFB125-
-
-
-
1Loss-
DEFB126-
-
-
-
1Loss-
DEFB127-
-
-
-
1Loss-
DEFB128-
-
-
-
1Loss-
DEFB129-
-
-
-
1Loss-
DEFB132-
-
-
-
1Loss-
DEFB133-
-
-
-
1Loss-
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DELE1-
-
-
-
1Loss-
DENND1C-
-
-
-
1Loss-
DENND4A-
-
-
-
1Loss-
DENND4B-
-
-
-
3Gain-
DENND4C-
-
-
-
1Loss-
DENND5A-
-
-
-
1Loss-
DENND6A-
-
-
-
1Loss-
DEPDC1B-
-
-
-
1Loss-
DEPDC4-
-
-
-
1Loss-
DERL2-
-
-
-
1Loss-
DES-
-
-
-
1Loss-
DET1-
-
-
-
1Loss-
DFFA-
-
-
-
1Loss-
DGCR2-
-
-
-
1Loss-
DGCR6-
-
-
-
1Loss-
DGCR6L-
-
-
-
1Loss-
DGCR8-
-
-
-
1Loss-
DGKA-
-
-
-
1Loss-
DGKB-
-
-
-
3Gain-
DGKD-
-
-
-
1Loss-
DGKH-
-
-
-
1Loss-
DHDDS-
-
-
-
1Loss-
DHFR-
-
-
-
1Loss-
DHH-
-
-
-
1Loss-
DHODH-
-
-
-
1Loss-
DHPS-
-
-
-
3Gain-
DHRS12-
-
-
-
1Loss-
DHRS3-
-
-
-
1Loss-
DHRS7B-
-
-
-
1Loss-
DHRS7C-
-
-
-
1Loss-
DHTKD1-
-
-
-
5Amp-
DHX15-
-
-
-
1Loss-
DHX29-
-
-
-
1Loss-
DHX30-
-
-
-
1Loss-
DHX32-
-
-
-
1Loss-
DHX33-
-
-
-
1Loss-
DHX38-
-
-
-
1Loss-
DIAPH1-
-
-
-
1Loss-
DIDO1-
-
-
-
3Gain-
DIMT1-
-
-
-
1Loss-
DIP2B-
-
-
-
1Loss-
DIP2C-
-
-
-
5Amp-
DIRAS1-
-
-
-
1Loss-
DIRAS2-
-
-
-
3Gain-
DIS3L-
-
-
-
1Loss-
DIS3L2-
-
-
-
1Loss-
DISP2-
-
-
-
1Loss-
DISP3-
-
-
-
1Loss-
DKK1-
-
-
-
1Loss-
DKK3-
-
-
-
1Loss-
DLC1-
-
-
-
1Loss-
DLD-
-
-
-
1Loss-
DLEC1-
-
-
-
1Loss-
DLEU7-
-
-
-
1Loss-
DLG4-
-
-
-
1Loss-
DLG5-
-
-
-
1Loss-
DLGAP2-
-
-
-
0Del-
DLL3-
-
-
-
1Loss-
DLL4-
-
-
-
1Loss-
DMAC2-
-
-
-
1Loss-
DMBT1-
-
-
-
1Loss-
DMGDH-
-
-
-
1Loss-
DMKN-
-
-
-
1Loss-
DMP1-
-
-
-
1Loss-
DMPK-
-
-
-
1Loss-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMRTC2-
-
-
-
1Loss-
DMTN-
-
-
-
1Loss-
DMWD-
-
-
-
1Loss-
DMXL1-
-
-
-
1Loss-
DMXL2-
-
-
-
1Loss-
DNA2-
-
-
-
1Loss-
DNAAF1-
-
-
-
1Loss-
DNAAF4-
-
-
-
1Loss-
DNAH1-
-
-
-
1Loss-
DNAH12-
-
-
-
1Loss-
DNAH2-
-
-
-
1Loss-
DNAH3-
-
-
-
3Gain-
DNAH5-
-
-
-
3Gain-
DNAH9-
-
-
-
1Loss-
DNAJA2-
-
-
-
1Loss-
DNAJA3-
-
-
-
1Loss-
DNAJA4-
-
-
-
1Loss-
DNAJB1-
-
-
-
1Loss-
DNAJB12-
-
-
-
1Loss-
DNAJB2-
-
-
-
1Loss-
DNAJB9-
-
-
-
1Loss-
DNAJC1-
-
-
-
5Amp-
DNAJC12-
-
-
-
1Loss-
DNAJC14-
-
-
-
1Loss-
DNAJC15-
-
-
-
1Loss-
DNAJC16-
-
-
-
1Loss-
DNAJC17-
-
-
-
1Loss-
DNAJC18-
-
-
-
1Loss-
DNAJC2-
-
-
-
1Loss-
DNAJC22-
-
-
-
1Loss-
DNAJC25-
-
-
-
3Gain-
DNAJC25-GNG10-
-
-
-
3Gain-
DNAJC5-
-
-
-
3Gain-
DNAJC8-
-
-
-
1Loss-
DNAJC9-
-
-
-
1Loss-
DNASE1-
-
-
-
1Loss-
DNASE1L2-
-
-
-
1Loss-
DNASE1L3-
-
-
-
1Loss-
DNASE2-
-
-
-
3Gain-
DND1-
-
-
-
1Loss-
DNER-
-
-
-
1Loss-
DNHD1-
-
-
-
1Loss-
DNM2-
-
-
-
3Gain-
DNMBP-
-
-
-
1Loss-
DNMT1-
-
-
-
3Gain-
DNPEP-
-
-
-
1Loss-
DNTT-
-
-
-
1Loss-
DOC2A-
-
-
-
3Gain-
DOC2B-
-
-
-
1Loss-
DOCK1-
-
-
-
1Loss-
DOCK10-
-
-
-
1Loss-
DOCK2-
-
-
-
1Loss-
DOCK3-
-
-
-
1Loss-
DOCK4-
-
-
-
1Loss-
DOCK5-
-
-
-
1Loss-
DOCK6-
-
-
-
3Gain-
DOCK8-
-
-
-
1Loss-
DOHH-
-
-
-
1Loss-
DOK2-
-
-
-
1Loss-
DOK4-
-
-
-
1Loss-
DOK6-
-
-
-
1Loss-
DOK7-
-
-
-
1Loss-
DOP1A-
-
-
-
1Loss-
DOT1L-
-
-
-
1Loss-
DPCD-
-
-
-
1Loss-
DPEP1-
-
-
-
1Loss-
DPEP2-
-
-
-
1Loss-
DPEP3-
-
-
-
1Loss-
DPF1-
-
-
-
1Loss-
DPH1-
-
-
-
1Loss-
DPH6-
-
-
-
1Loss-
DPM3-
-
-
-
3Gain-
DPP4-
-
-
-
1Loss-
DPP8-
-
-
-
1Loss-
DPP9-
-
-
-
1Loss-
DPPA3-
-
-
-
3Gain-
DPPA5-
-
-
-
3Gain-
DPRX-
-
-
-
3Gain-
DPY19L1-
-
-
-
1Loss-
DPY19L2-
-
-
-
1Loss-
DPY19L3-
-
-
-
1Loss-
DPYSL3-
-
-
-
1Loss-
DPYSL4-
-
-
-
1Loss-
DRAM1-
-
-
-
1Loss-
DRAXIN-
-
-
-
1Loss-
DRC3-
-
-
-
1Loss-
DRC7-
-
-
-
1Loss-
DRD4-
-
-
-
1Loss-
DRD5-
-
-
-
1Loss-
DRG2-
-
-
-
1Loss-
DRGX-
-
-
-
1Loss-
DROSHA-
-
-
-
1Loss-
DSC1-
-
-
-
1Loss-
DSC2-
-
-
-
1Loss-
DSC3-
-
-
-
1Loss-
DSE-
-
-
-
1Loss-
DSEL-
-
-
-
1Loss-
DSG1-
-
-
-
1Loss-
DSG2-
-
-
-
1Loss-
DSG3-
-
-
-
1Loss-
DSG4-
-
-
-
1Loss-
DSP-
-
-
-
3GainDSP--RN7SL1
DSPP-
-
-
-
1Loss-
DST-
-
-
-
5Amp-
DSTN-
-
-
-
1Loss-
DTD1-
-
-
-
1Loss-
DTHD1-
-
-
-
3Gain-
DTNA-
-
-
-
1Loss-
DTWD1-
-
-
-
1Loss-
DTWD2-
-
-
-
1Loss-
DTX3-
-
-
-
1Loss-
DTYMK-
-
-
-
1Loss-
DUOX1-
-
-
-
1Loss-
DUOX2-
-
-
-
1Loss-
DUOXA1-
-
-
-
1Loss-
DUOXA2-
-
-
-
1Loss-
DUPD1-
-
-
-
3Gain-
DUS2-
-
-
-
1Loss-
DUS3L-
-
-
-
1Loss-
DUS4L-
-
-
-
1Loss-
DUSP1-
-
-
-
1Loss-
DUSP13-
-
-
-
3Gain-
DUSP22-
-
-
-
5Amp-
DUSP23-
-
-
-
3Gain-
DUSP28-
-
-
-
1Loss-
DUSP5-
-
-
-
1Loss-
DUSP6-
-
-
-
1Loss-
DUSP7-
-
-
-
1Loss-
DUSP8-
-
-
-
1Loss-
DUT-
-
-
-
1Loss-
DUXB-
-
-
-
1Loss-
DVL2-
-
-
-
1Loss-
DYDC1-
-
-
-
1Loss-
DYDC2-
-
-
-
1Loss-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1LI2-
-
-
-
1Loss-
DYNLRB2-
-
-
-
1Loss-
DYRK1B-
-
-
-
1Loss-
DYRK2-
-
-
-
1Loss-
DYRK4-
-
-
-
3Gain-
DYTNp.K339T
Missense
SNP
1.000
1Loss-
DZANK1-
-
-
-
1Loss-
E2F2-
-
-
-
1Loss-
E2F3-
-
-
-
13Amp-
E2F4-
-
-
-
1Loss-
E2F7-
-
-
-
1Loss-
E2F8-
-
-
-
1Loss-
E4F1-
-
-
-
1Loss-
EARS2-
-
-
-
3Gain-
EBF1-
-
-
-
1Loss-
EBF2-
-
-
-
1Loss-
EBF3-
-
-
-
1Loss-
EBF4-
-
-
-
1Loss-
EBI3-
-
-
-
1Loss-
EBLN1-
-
-
-
5Amp-
EBLN2-
-
-
-
1Loss-
EBPL-
-
-
-
1Loss-
ECD-
-
-
-
1Loss-
ECE1-
-
-
-
1Loss-
ECEL1-
-
-
-
1Loss-
ECH1-
-
-
-
1Loss-
ECHDC1-
-
-
-
1Loss-
ECHDC3-
-
-
-
5Amp-
ECHS1-
-
-
-
1Loss-
ECI1-
-
-
-
1Loss-
ECI2-
-
-
-
3Gain-
ECM1-
-
-
-
3Gain-
ECM2-
-
-
-
3Gain-
ECPAS-
-
-
-
3Gain-
ECSCR-
-
-
-
1Loss-
ECSIT-
-
-
-
3Gain-
EDC3-
-
-
-
1Loss-
EDC4-
-
-
-
1Loss-
EDIL3-
-
-
-
1Loss-
EDN1-
-
-
-
3Gain-
EDRF1-
-
-
-
1Loss-
EEA1-
-
-
-
1Loss-
EEF1A1-
-
-
-
3Gain-
EEF1A2-
-
-
-
3Gain-
EEF1AKMT1-
-
-
-
1Loss-
EEF1AKMT2-
-
-
-
1Loss-
EEF1AKMT3-
-
-
-
1Loss-
EEF1B2-
-
-
-
1Loss-
EEF1E1-
-
-
-
3Gain-
EEF1E1-BLOC1S5-
-
-
-
3Gain-
EEF2-
-
-
-
1Loss-
EEF2K-
-
-
-
3Gain-
EEF2KMT-
-
-
-
1Loss-
EEPD1-
-
-
-
1Loss-
EFCAB10-
-
-
-
1Loss-
EFCAB9-
-
-
-
1Loss-
EFHC1-
-
-
-
1Loss-
EFHD1-
-
-
-
1Loss-
EFHD2-
-
-
-
1Loss-
EFL1-
-
-
-
1Loss-
EFNA1-
-
-
-
3Gain-
EFNA2-
-
-
-
1Loss-
EFNA3-
-
-
-
3Gain-
EFNA4-
-
-
-
3Gain-
EFNA5-
-
-
-
1Loss-
EFNB3-
-
-
-
1Loss-
EGLN2-
-
-
-
1Loss-
EGR1-
-
-
-
1Loss-
EGR2-
-
-
-
1Loss-
EGR3-
-
-
-
1Loss-
EHD4-
-
-
-
1Loss-
EID1-
-
-
-
1Loss-
EID2-
-
-
-
1Loss-
EID2B-
-
-
-
1Loss-
EID3-
-
-
-
1Loss-
EIF1B-
-
-
-
1Loss-
EIF2AK1-
-
-
-
3Gain-
EIF2AK4-
-
-
-
1Loss-
EIF3A-
-
-
-
1Loss-
EIF3C-
-
-
-
3Gain-
EIF3CL-
-
-
-
3Gain-
EIF3F-
-
-
-
1Loss-
EIF3G-
-
-
-
3Gain-
EIF3J-
-
-
-
1Loss-
EIF3K-
-
-
-
1Loss-
EIF4A1-
-
-
-
1Loss-
EIF4B-
-
-
-
1Loss-
EIF4E2-
-
-
-
1Loss-
EIF4E3-
-
-
-
1Loss-
EIF4EBP2-
-
-
-
1Loss-
EIF4EBP3-
-
-
-
1Loss-
EIF4G2-
-
-
-
1Loss-
EIF4G3-
-
-
-
1Loss-
EIF5A-
-
-
-
1Loss-
EIF5AL1-
-
-
-
1Loss-
ELAC1-
-
-
-
1Loss-
ELAC2-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL1-
-
-
-
3Gain-
ELAVL3-
-
-
-
3Gain-
ELF1-
-
-
-
1Loss-
ELK3-
-
-
-
1Loss-
ELL-
-
-
-
1Loss-
ELL2-
-
-
-
1Loss-
ELL3-
-
-
-
1Loss-
ELMO1-
-
-
-
1Loss-
ELMO3-
-
-
-
1Loss-
ELMOD2p.R33*
Nonsense
SNP
0.997
2--
ELOA-
-
-
-
1Loss-
ELOA2-
-
-
-
1Loss-
ELOA3-
-
-
-
1Loss-
ELOA3B-
-
-
-
1Loss-
ELOA3C-
-
-
-
1Loss-
ELOA3D-
-
-
-
1Loss-
ELOB-
-
-
-
1Loss-
ELOF1-
-
-
-
3Gain-
ELOVL2-
-
-
-
3Gain-
ELOVL3-
-
-
-
1Loss-
ELOVL4-
-
-
-
1Loss-
ELOVL5-
-
-
-
1Loss-
ELOVL7-
-
-
-
1Loss-
ELP1-
-
-
-
3Gain-
ELP2-
-
-
-
1Loss-
ELP5-
-
-
-
1Loss-
ELP6-
-
-
-
1Loss-
EMB-
-
-
-
1Loss-
EMC1-
-
-
-
1Loss-
EMC4-
-
-
-
1Loss-
EMC6-
-
-
-
1Loss-
EMC7-
-
-
-
1Loss-
EMC8-
-
-
-
1Loss-
EME2-
-
-
-
1Loss-
EMG1-
-
-
-
3Gain-
EML2-
-
-
-
1Loss-
EMP2-
-
-
-
3Gain-
EMX2-
-
-
-
1Loss-
ENAM-
-
-
-
1Loss-
ENC1-
-
-
-
1Loss-
ENDOU-
-
-
-
1Loss-
ENKD1-
-
-
-
1Loss-
ENKUR-
-
-
-
5Amp-
ENO2-
-
-
-
3Gain-
ENO3-
-
-
-
1Loss-
ENO4-
-
-
-
1Loss-
ENOPH1-
-
-
-
1Loss-
ENOX1-
-
-
-
1Loss-
ENPP4-
-
-
-
1Loss-
ENPP5-
-
-
-
1Loss-
ENPP6-
-
-
-
1Loss-
ENSA-
-
-
-
3Gain-
ENTPD1-
-
-
-
1Loss-
ENTPD3-
-
-
-
1Loss-
ENTPD4-
-
-
-
1Loss-
ENTPD6-
-
-
-
1Loss-
ENTPD7-
-
-
-
1Loss-
EOGT-
-
-
-
1Loss-
EPB41L4A-
-
-
-
1Loss-
EPB41L4B-
-
-
-
3Gain-
EPB41L5-
-
-
-
3Gain-
EPB42-
-
-
-
1Loss-
EPC2-
-
-
-
1Loss-
EPDR1-
-
-
-
1Loss-
EPG5-
-
-
-
1Loss-
EPGN-
-
-
-
1Loss-
EPHA2-
-
-
-
1Loss-
EPHA3-
-
-
-
1Loss-
EPHA4-
-
-
-
1Loss-
EPHA5-
-
-
-
1Loss-
EPHA7-
-
-
-
1Loss-
EPHA8-
-
-
-
1Loss-
EPHB2-
-
-
-
1Loss-
EPHB4-
-
-
-
1Loss-
EPHX3-
-
-
-
1Loss-
EPM2AIP1-
-
-
-
1Loss-
EPN2-
-
-
-
1Loss-
EPO-
-
-
-
1Loss-
EPOR-
-
-
-
3Gain-
EPS15L1-
-
-
-
1Loss-
EPS8L2-
-
-
-
1Loss-
EPSTI1-
-
-
-
1Loss-
EPYC-
-
-
-
1Loss-
ERAP1-
-
-
-
1Loss-
ERAP2-
-
-
-
1Loss-
ERBB3-
-
-
-
1Loss-
ERBB4-
-
-
-
1Loss-
ERBIN-
-
-
-
1Loss-
ERC1-
-
-
-
3Gain-
ERC2-
-
-
-
1Loss-
ERCC1-
-
-
-
1Loss-
ERCC2-
-
-
-
1Loss-
ERCC3-
-
-
-
3Gain-
ERCC4-
-
-
-
3Gain-
ERCC6-
-
-
-
1Loss-
ERCC6L2-
-
-
-
3Gain-
ERCC8-
-
-
-
1Loss-
EREG-
-
-
-
1Loss-
ERF-
-
-
-
1Loss-
ERFE-
-
-
-
1Loss-
ERGIC1-
-
-
-
1Loss-
ERGIC2-
-
-
-
1Loss-
ERI1-
-
-
-
1Loss-
ERI2-
-
-
-
3Gain-
ERICH1-
-
-
-
0Del-
ERICH4-
-
-
-
1Loss-
ERICH6B-
-
-
-
1Loss-
ERLIN1-
-
-
-
1Loss-
ERMN-
-
-
-
1Loss-
ERN2-
-
-
-
3Gain-
ERP44-
-
-
-
3Gain-
ERVFRD-1-
-
-
-
3Gain-
ERVMER34-1-
-
-
-
3Gain-
ERVV-1-
-
-
-
3Gain-
ERVV-2-
-
-
-
3Gain-
ESCO1-
-
-
-
6Amp-
ESD-
-
-
-
1Loss-
ESF1-
-
-
-
1Loss-
ESPL1-
-
-
-
1Loss-
ESPNL-
-
-
-
1Loss-
ESRP2-
-
-
-
1Loss-
ESS2-
-
-
-
1Loss-
ESYT1-
-
-
-
1Loss-
ETF1-
-
-
-
1Loss-
ETFA-
-
-
-
1Loss-
ETHE1-
-
-
-
1Loss-
ETV1-
-
-
-
3Gain-
ETV2-
-
-
-
1Loss-
ETV3-
-
-
-
3Gain-
ETV3L-
-
-
-
3Gain-
EVC-
-
-
-
1Loss-
EVC2-
-
-
-
1Loss-
EVI5L-
-
-
-
3Gain-
EVPLL-
-
-
-
1Loss-
EVX1-
-
-
-
1Loss-
EXD1-
-
-
-
1Loss-
EXOC1-
-
-
-
3Gain-
EXOC1L-
-
-
-
3Gain-
EXOC2-
-
-
-
5Amp-
EXOC3-
-
-
-
1Loss-
EXOC3L1-
-
-
-
1Loss-
EXOC3L2-
-
-
-
1Loss-
EXOC4-
-
-
-
1Loss-
EXOC6-
-
-
-
1Loss-
EXOG-
-
-
-
1Loss-
EXOSC1-
-
-
-
1Loss-
EXOSC10-
-
-
-
1Loss-
EXOSC5-
-
-
-
1Loss-
EXOSC6-
-
-
-
1Loss-
EXOSC7-
-
-
-
1Loss-
EXOSC8-
-
-
-
1Loss-
EXTL1-
-
-
-
1Loss-
EYA3-
-
-
-
1Loss-
EYS-
-
-
-
3Gain-
F11-
-
-
-
1Loss-
F13A1-
-
-
-
3Gain-
F2R-
-
-
-
1Loss-
F2RL1-
-
-
-
1Loss-
F2RL2-
-
-
-
1Loss-
F2RL3-
-
-
-
1Loss-
FA2H-
-
-
-
1Loss-
FAAP24-
-
-
-
1Loss-
FABP6-
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1Loss-
FABP7-
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1Loss-
FAH-
-
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1Loss-
FAHD1-
-
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1Loss-
FAIM2-
-
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1Loss-
FAM107A-
-
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-
1Loss-
FAM107B-
-
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5Amp-
FAM110A-
-
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-
1Loss-
FAM110D-
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1Loss-
FAM114A1-
-
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3Gain-
FAM114A2-
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1Loss-
FAM117B-
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1Loss-
FAM120A-
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3Gain-
FAM120AOS-
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3Gain-
FAM122A-
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3Gain-
FAM124A-
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1Loss-
FAM124B-
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1Loss-
FAM126A-
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1Loss-
FAM129C-
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1Loss-
FAM131C-
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1Loss-
FAM135A-
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3Gain-
FAM13A-
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1Loss-
FAM13B-
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1Loss-
FAM13C-
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1Loss-
FAM149A-
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1Loss-
FAM149B1-
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1Loss-
FAM151B-
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1Loss-
FAM160A2-
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1Loss-
FAM160B1-
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1Loss-
FAM160B2-
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1Loss-
FAM162B-
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1Loss-
FAM163A-
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1Loss-
FAM167A-
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1Loss-
FAM168B-
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3Gain-
FAM169A-
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1Loss-
FAM169B-
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1Loss-
FAM170A-
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1Loss-
FAM170B-
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1Loss-
FAM171A1-
-
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5Amp-
FAM172A-
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-
1Loss-
FAM173A-
-
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-
1Loss-
FAM173B-
-
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-
1Loss-
FAM174A-
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1Loss-
FAM174B-
-
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1Loss-
FAM180A-
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1Loss-
FAM184A-
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1Loss-
FAM184B-
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3Gain-
FAM185A-
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1Loss-
FAM186A-
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1Loss-
FAM186B-
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1Loss-
FAM187B-
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1Loss-
FAM189A1-
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1Loss-
FAM189A2-
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3Gain-
FAM189B-
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3Gain-
FAM192A-
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1Loss-
FAM193A-
-
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1Loss-
FAM198A-
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1Loss-
FAM19A1-
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1Loss-
FAM19A2-
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1Loss-
FAM19A4-
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1Loss-
FAM200A-
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1Loss-
FAM200B-
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3Gain-
FAM204A-
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1Loss-
FAM206A-
-
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3Gain-
FAM208A-
-
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-
1Loss-
FAM208B-
-
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5Amp-
FAM20B-
-
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-
1Loss-
FAM214A-
-
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-
1Loss-
FAM216B-
-
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-
1Loss-
FAM217A-
-
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-
3Gain-
FAM217B-
-
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3Gain-
FAM219B-
-
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-
1Loss-
FAM220A-
-
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-
3Gain-
FAM221A-
-
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-
1Loss-
FAM227B-
-
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-
1Loss-
FAM229B-
-
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1Loss-
FAM234A-
-
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-
1Loss-
FAM237A-
-
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1Loss-
FAM240A-
-
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-
1Loss-
FAM241B-
-
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1Loss-
FAM24A-
-
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1Loss-
FAM24B-
-
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1Loss-
FAM32A-
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1Loss-
FAM3C-
-
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1Loss-
FAM3D-
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1Loss-
FAM43B-
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1Loss-
FAM45A-
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1Loss-
FAM47E-
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1Loss-
FAM47E-STBD1-
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1Loss-
FAM50B-
-
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3Gain-
FAM53B-
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-
1Loss-
FAM53C-
-
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1Loss-
FAM57A-
-
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-
1Loss-
FAM57B-
-
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-
3Gain-
FAM69C-
-
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-
1Loss-
FAM71B-
-
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-
1Loss-
FAM71C-
-
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-
1Loss-
FAM71F1-
-
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1Loss-
FAM71F2-
-
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-
1Loss-
FAM76A-
-
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-
1Loss-
FAM81A-
-
-
-
1Loss-
FAM81B-
-
-
-
1Loss-
FAM83B-
-
-
-
7Amp-
FAM83G-
-
-
-
1Loss-
FAM86B1-
-
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-
1Loss-
FAM92B-
-
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-
1Loss-
FAM98B-
-
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-
1Loss-
FAM98C-
-
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-
1Loss-
FAN1-
-
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-
1Loss-
FANCA-
-
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-
1Loss-
FANCC-
-
-
-
3Gain-
FANCF-
-
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-
1Loss-
FANCI-
-
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-
1Loss-
FANK1-
-
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-
1Loss-
FAP-
-
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-
1Loss-
FAR1-
-
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-
1Loss-
FAR2-
-
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-
1Loss-
FARP2-
-
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-
1Loss-
FARS2-
-
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-
3Gain-
FARSA-
-
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-
3Gain-
FARSB-
-
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-
1Loss-
FAS-
-
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-
1Loss-
FASTKD2-
-
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-
1Loss-
FASTKD3-
-
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1Loss-
FASTKD5-
-
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-
1Loss-
FAT1-
-
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-
1Loss-
FAT2-
-
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-
1Loss-
FAXC-
-
-
-
1Loss-
FAXDC2-
-
-
-
1Loss-
FBH1-
-
-
-
5Amp-
FBL-
-
-
-
1Loss-
FBLIM1-
-
-
-
1Loss-
FBLL1-
-
-
-
1Loss-
FBN1-
-
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-
1Loss-
FBN2-
-
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-
1Loss-
FBN3-
-
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-
3Gain-
FBP1-
-
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-
3Gain-
FBP2-
-
-
-
3Gain-
FBRS-
-
-
-
3Gain-
FBXL12-
-
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-
3Gain-
FBXL13-
-
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-
1Loss-
FBXL14-
-
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-
3Gain-
FBXL15-
-
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-
1Loss-
FBXL16-
-
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-
1Loss-
FBXL17-
-
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-
1Loss-
FBXL19-
-
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-
3Gain-
FBXL22-
-
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1Loss-
FBXL4-
-
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1Loss-
FBXL5-
-
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3Gain-
FBXL7-
-
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3Gain-
FBXL8-
-
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1Loss-
FBXO15-
-
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-
1Loss-
FBXO17-
-
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-
1Loss-
FBXO2-
-
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-
1Loss-
FBXO22-
-
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-
1Loss-
FBXO24-
-
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-
1Loss-
FBXO25-
-
-
-
0Del-
FBXO27-
-
-
-
1Loss-
FBXO31-
-
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-
1Loss-
FBXO36-
-
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-
1Loss-
FBXO38-
-
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1Loss-
FBXO39-
-
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1Loss-
FBXO42-
-
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1Loss-
FBXO44-
-
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1Loss-
FBXO46-
-
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1Loss-
FBXO6-
-
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-
1Loss-
FBXO8-
-
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-
1Loss-
FBXO9-
-
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-
1Loss-
FBXW10-
-
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-
1Loss-
FBXW11-
-
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-
1Loss-
FBXW12-
-
-
-
1Loss-
FBXW4-
-
-
-
1Loss-
FBXW9-
-
-
-
3Gain-
FCAR-
-
-
-
3Gain-
FCER1A-
-
-
-
3Gain-
FCER2-
-
-
-
3Gain-
FCGBP-
-
-
-
1Loss-
FCHO1-
-
-
-
1Loss-
FCHO2-
-
-
-
1Loss-
FCHSD1-
-
-
-
1Loss-
FCN3-
-
-
-
1Loss-
FCRL1-
-
-
-
3Gain-
FCRL2-
-
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-
3Gain-
FCRL3-
-
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-
3Gain-
FCRL4-
-
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-
3Gain-
FCRL5-
-
-
-
3Gain-
FCRL6-
-
-
-
3Gain-
FDCSP-
-
-
-
1Loss-
FDFT1-
-
-
-
1Loss-
FDPS-
-
-
-
3Gain-
FDX2-
-
-
-
3Gain-
FECH-
-
-
-
1Loss-
FEM1A-
-
-
-
1Loss-
FEM1B-
-
-
-
1Loss-
FEM1C-
-
-
-
1Loss-
FER-
-
-
-
1Loss-
FERD3L-
-
-
-
3Gain-
FERMT1-
-
-
-
1Loss-
FES-
-
-
-
1Loss-
FEV-
-
-
-
1Loss-
FEZF1-
-
-
-
1Loss-
FEZF2-
-
-
-
1Loss-
FFAR1-
-
-
-
1Loss-
FFAR2-
-
-
-
1Loss-
FFAR3-
-
-
-
1Loss-
FFAR4-
-
-
-
1Loss-
FGD3-
-
-
-
3Gain-
FGD6-
-
-
-
1Loss-
FGF1-
-
-
-
1Loss-
FGF11-
-
-
-
1Loss-
FGF17-
-
-
-
1Loss-
FGF18-
-
-
-
1Loss-
FGF20-
-
-
-
1Loss-
FGF22-
-
-
-
1Loss-
FGF23-
-
-
-
3Gain-
FGF5-
-
-
-
1Loss-
FGF6-
-
-
-
3Gain-
FGF7-
-
-
-
1Loss-
FGF8-
-
-
-
1Loss-
FGF9-
-
-
-
1Loss-
FGFBP1-
-
-
-
3Gain-
FGFBP2-
-
-
-
3Gain-
FGFBP3-
-
-
-
1Loss-
FGFR2-
-
-
-
1Loss-
FGL1-
-
-
-
1Loss-
FGR-
-
-
-
1Loss-
FHAD1-
-
-
-
1Loss-
FHIT-
-
-
-
1Loss-
FHL5-
-
-
-
1Loss-
FHOD1-
-
-
-
1Loss-
FHOD3-
-
-
-
1Loss-
FIG4-
-
-
-
1Loss-
FIGN-
-
-
-
1Loss-
FIGNL1-
-
-
-
1Loss-
FIGNL2-
-
-
-
1Loss-
FILIP1-
-
-
-
3Gain-
FIP1L1-
-
-
-
3Gain-
FIS1-
-
-
-
1Loss-
FKBP11-
-
-
-
1Loss-
FKBP14-
-
-
-
1Loss-
FKBP15-
-
-
-
3Gain-
FKBP1A-
-
-
-
1Loss-
FKBP1C-
-
-
-
3Gain-
FKBP4-
-
-
-
3Gain-
FKBP8-
-
-
-
1Loss-
FKBP9-
-
-
-
1Loss-
FKRP-
-
-
-
1Loss-
FKTN-
-
-
-
3Gain-
FLAD1-
-
-
-
3Gain-
FLCN-
-
-
-
1Loss-
FLG-
-
-
-
5Amp-
FLG2-
-
-
-
5Amp-
FLII-
-
-
-
1Loss-
FLNA-
-
-
-
NDNDRNA5-8SN2--FLNA
FLNB-
-
-
-
1Loss-
FLNC-
-
-
-
1Loss-
FLRT3-
-
-
-
1Loss-
FLT1-
-
-
-
1Loss-
FLT3-
-
-
-
1Loss-
FLYWCH1-
-
-
-
1Loss-
FLYWCH2-
-
-
-
1Loss-
FMN1-
-
-
-
1Loss-
FMNL2-
-
-
-
1Loss-
FMNL3-
-
-
-
1Loss-
FN1-
-
-
-
1Loss-
FNDC11-
-
-
-
3Gain-
FNDC3A-
-
-
-
1Loss-
FNDC9-
-
-
-
1Loss-
FNIP1-
-
-
-
1Loss-
FO681492.1-
-
-
-
1Loss-
FOCAD-
-
-
-
1Loss-
FOPNL-
-
-
-
3Gain-
FOSB-
-
-
-
1Loss-
FOXA2-
-
-
-
1Loss-
FOXA3-
-
-
-
1Loss-
FOXB1-
-
-
-
1Loss-
FOXB2-
-
-
-
3Gain-
FOXC1-
-
-
-
5Amp-
FOXC2-
-
-
-
1Loss-
FOXD1-
-
-
-
1Loss-
FOXE1-
-
-
-
3Gain-
FOXF1-
-
-
-
1Loss-
FOXF2-
-
-
-
5Amp-
FOXI1-
-
-
-
1Loss-
FOXI2-
-
-
-
1Loss-
FOXJ2-
-
-
-
3Gain-
FOXL1-
-
-
-
1Loss-
FOXM1-
-
-
-
3Gain-
FOXO1-
-
-
-
1Loss-
FOXO3-
-
-
-
1Loss-
FOXP1-
-
-
-
1Loss-
FOXP2-
-
-
-
1Loss-
FOXQ1-
-
-
-
5Amp-
FRA10AC1-
-
-
-
1Loss-
FRAS1-
-
-
-
1Loss-
FRAT1-
-
-
-
1Loss-
FRAT2-
-
-
-
1Loss-
FREM1-
-
-
-
1Loss-
FREM2-
-
-
-
1Loss-
FRG1-
-
-
-
1Loss-
FRG2-
-
-
-
1Loss-
FRG2B-
-
-
-
1Loss-
FRG2C-
-
-
-
1Loss-
FRK-
-
-
-
1Loss-
FRMD3-
-
-
-
3Gain-
FRMD4A-
-
-
-
5Amp-
FRMD4B-
-
-
-
1Loss-
FRMD5-
-
-
-
1Loss-
FRMPD2-
-
-
-
1Loss-
FRRS1L-
-
-
-
3Gain-
FRS2-
-
-
-
1Loss-
FRY-
-
-
-
0Del-
FRYL-
-
-
-
3Gain-
FSCN3-
-
-
-
1Loss-
FSD1-
-
-
-
1Loss-
FSD1L-
-
-
-
3Gain-
FSD2-
-
-
-
1Loss-
FSIP1-
-
-
-
1Loss-
FSTL3-
-
-
-
1Loss-
FSTL4-
-
-
-
1Loss-
FTMT-
-
-
-
1Loss-
FTO-
-
-
-
1Loss-
FUCA1-
-
-
-
1Loss-
FUK-
-
-
-
1Loss-
FUOM-
-
-
-
1Loss-
FURIN-
-
-
-
1Loss-
FUS-
-
-
-
3Gain-
FUT11-
-
-
-
1Loss-
FUT3-
-
-
-
1Loss-
FUT5-
-
-
-
1Loss-
FUT6-
-
-
-
1Loss-
FUT9-
-
-
-
1Loss-
FXN-
-
-
-
3Gain-
FXR2-
-
-
-
1Loss-
FXYD1-
-
-
-
1Loss-
FXYD3-
-
-
-
1Loss-
FXYD5-
-
-
-
1Loss-
FXYD7-
-
-
-
1Loss-
FYCO1-
-
-
-
1Loss-
FYN-
-
-
-
1Loss-
FZD5-
-
-
-
1Loss-
FZD7-
-
-
-
1Loss-
FZR1-
-
-
-
1Loss-
G3BP1-
-
-
-
1Loss-
G3BP2-
-
-
-
1Loss-
GAB4-
-
-
-
1Loss-
GABARAP-
-
-
-
1Loss-
GABARAPL2-
-
-
-
1Loss-
GABBR2-
-
-
-
3Gain-
GABPB1-
-
-
-
1Loss-
GABPB2-
-
-
-
3Gain-
GABRA1-
-
-
-
1Loss-
GABRA2-
-
-
-
1Loss-
GABRA4-
-
-
-
1Loss-
GABRA5-
-
-
-
1Loss-
GABRA6-
-
-
-
1Loss-
GABRB1-
-
-
-
1Loss-
GABRB2-
-
-
-
1Loss-
GABRB3-
-
-
-
1Loss-
GABRG1-
-
-
-
1Loss-
GABRG2-
-
-
-
1Loss-
GABRG3-
-
-
-
1Loss-
GABRP-
-
-
-
1Loss-
GABRR1-
-
-
-
1Loss-
GABRR2-
-
-
-
1Loss-
GAD2-
-
-
-
3Gain-
GADD45B-
-
-
-
1Loss-
GADD45G-
-
-
-
3Gain-
GADD45GIP1-
-
-
-
3Gain-
GAL3ST2-
-
-
-
1Loss-
GAL3ST4p.L291M
Missense
SNP
0.221
1Loss-
GALE-
-
-
-
1Loss-
GALK2-
-
-
-
1Loss-
GALNS-
-
-
-
1Loss-
GALNT1-
-
-
-
1Loss-
GALNT10-
-
-
-
1Loss-
GALNT12-
-
-
-
3Gain-
GALNT13-
-
-
-
1Loss-
GALNT18-
-
-
-
1Loss-
GALNT3-
-
-
-
1Loss-
GALNT5-
-
-
-
1Loss-
GALNT6-
-
-
-
1Loss-
GALNT7-
-
-
-
1Loss-
GALNT8-
-
-
-
3Gain-
GALNTL6-
-
-
-
1Loss-
GALR1-
-
-
-
1Loss-
GAMT-
-
-
-
1Loss-
GAN-
-
-
-
1Loss-
GANC-
-
-
-
1Loss-
GAPDH-
-
-
-
3Gain-
GAPDHS-
-
-
-
1Loss-
GAPT-
-
-
-
1Loss-
GAREM1-
-
-
-
1Loss-
GARS-
-
-
-
1Loss-
GAS1-
-
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3Gain-
GAS2-
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1Loss-
GAS2L3-
-
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1Loss-
GAS7-
-
-
-
1Loss-
GAS8-
-
-
-
1Loss-
GATA3-
-
-
-
5Amp-
GATA4-
-
-
-
1Loss-
GATA5-
-
-
-
3Gain-
GATA6-
-
-
-
6Amp-
GATAD2A-
-
-
-
1Loss-
GATAD2B-
-
-
-
3Gain-
GATD1-
-
-
-
1Loss-
GATM-
-
-
-
1Loss-
GBA-
-
-
-
3Gain-
GBA3-
-
-
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3Gain-
GBE1-
-
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1Loss-
GBF1-
-
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-
1Loss-
GBX2-
-
-
-
1Loss-
GC-
-
-
-
1Loss-
GCA-
-
-
-
1Loss-
GCC1-
-
-
-
1Loss-
GCDH-
-
-
-
3Gain-
GCG-
-
-
-
1Loss-
GCHFR-
-
-
-
1Loss-
GCK-
-
-
-
1Loss-
GCLC-
-
-
-
1Loss-
GCM1-
-
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-
1Loss-
GCM2-
-
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3Gain-
GCNT1-
-
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3Gain-
GCNT2-
-
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3Gain-
GCNT3-
-
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-
1Loss-
GCNT4-
-
-
-
1Loss-
GCOM1-
-
-
-
1Loss-
GCSH-
-
-
-
1Loss-
GDA-
-
-
-
3Gain-
GDE1-
-
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3Gain-
GDF1-
-
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-
1Loss-
GDF10-
-
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-
1Loss-
GDF11-
-
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-
1Loss-
GDF15-
-
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-
1Loss-
GDF2-
-
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-
1Loss-
GDF3-
-
-
-
3Gain-
GDF9-
-
-
-
1Loss-
GDI2-
-
-
-
5Amp-
GDPD3-
-
-
-
3Gain-
GDPGP1-
-
-
-
1Loss-
GEMIN4-
-
-
-
1Loss-
GEMIN5-
-
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1Loss-
GEMIN7-
-
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1Loss-
GFER-
-
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1Loss-
GFM2-
-
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1Loss-
GFOD1-
-
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3Gain-
GFOD2-
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1Loss-
GFRA1-
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1Loss-
GFRA2-
-
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1Loss-
GFRA3-
-
-
-
1Loss-
GFRA4-
-
-
-
1Loss-
GFRAL-
-
-
-
7Amp-
GGA2-
-
-
-
3Gain-
GGCT-
-
-
-
1Loss-
GGN-
-
-
-
1Loss-
GGT6-
-
-
-
1Loss-
GGTLC1-
-
-
-
1Loss-
GHITM-
-
-
-
1Loss-
GHRHR-
-
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-
1Loss-
GID4-
-
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1Loss-
GID8-
-
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3Gain-
GIGYF1-
-
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1Loss-
GIGYF2-
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1Loss-
GIN1-
-
-
-
1Loss-
GINS1-
-
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-
1Loss-
GINS2-
-
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-
1Loss-
GINS3-
-
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-
1Loss-
GIPC1-
-
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1Loss-
GIPC3-
-
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-
1Loss-
GIPR-
-
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-
1Loss-
GJA1-
-
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-
1Loss-
GJA10-
-
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-
1Loss-
GJA3-
-
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1Loss-
GJB2-
-
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1Loss-
GJB6-
-
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-
1Loss-
GJB7-
-
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-
1Loss-
GJC3-
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1Loss-
GJD2-
-
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1Loss-
GK2-
-
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-
1Loss-
GKAP1-
-
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3Gain-
GLB1L-
-
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1Loss-
GLCCI1-
-
-
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3Gain-
GLCE-
-
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-
1Loss-
GLDN-
-
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-
1Loss-
GLG1-
-
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-
1Loss-
GLI1-
-
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-
1Loss-
GLI2-
-
-
-
3Gain-
GLI3-
-
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-
1Loss-
GLIPR1-
-
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-
1Loss-
GLIPR1L1-
-
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-
1Loss-
GLIPR1L2-
-
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-
1Loss-
GLIS2-
-
-
-
1Loss-
GLMP-
-
-
-
3Gain-
GLOD4-
-
-
-
1Loss-
GLP2R-
-
-
-
1Loss-
GLRA1-
-
-
-
1Loss-
GLRA3-
-
-
-
1Loss-
GLRX-
-
-
-
1Loss-
GLRX3-
-
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-
1Loss-
GLS2-
-
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-
1Loss-
GLT8D1-
-
-
-
1Loss-
GLT8D2-
-
-
-
1Loss-
GLTPD2-
-
-
-
1Loss-
GLUD1-
-
-
-
1Loss-
GLUL-
-
-
-
1Loss-
GLYATL3-
-
-
-
1Loss-
GLYCTK-
-
-
-
1Loss-
GLYR1-
-
-
-
1Loss-
GM2A-
-
-
-
1Loss-
GMDS-
-
-
-
5Amp-
GMEB2-
-
-
-
3Gain-
GMFG-
-
-
-
1Loss-
GMIP-
-
-
-
1Loss-
GMNN-
-
-
-
7Amp-
GMPPA-
-
-
-
1Loss-
GMPPB-
-
-
-
1Loss-
GNA11-
-
-
-
1Loss-
GNA14-
-
-
-
3Gain-
GNA15-
-
-
-
1Loss-
GNAI2-
-
-
-
1Loss-
GNAO1-
-
-
-
1Loss-
GNAQ-
-
-
-
3Gain-
GNAT1-
-
-
-
1Loss-
GNB1L-
-
-
-
1Loss-
GNB2-
-
-
-
1Loss-
GNB3-
-
-
-
3Gain-
GNB5-
-
-
-
1Loss-
GNG10-
-
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-
3Gain-
GNG13-
-
-
-
1Loss-
GNG14-
-
-
-
3Gain-
GNG7-
-
-
-
1Loss-
GNG8-
-
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-
1Loss-
GNL3-
-
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-
1Loss-
GNPDA1-
-
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-
1Loss-
GNPDA2-
-
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-
1Loss-
GNPTAB-
-
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-
1Loss-
GNPTG-
-
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-
1Loss-
GNRH1-
-
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-
1Loss-
GNRH2-
-
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-
1Loss-
GNRHR-
-
-
-
1Loss-
GNS-
-
-
-
1Loss-
GOLGA4-
-
-
-
1Loss-
GOLGA6A-
-
-
-
1Loss-
GOLGA6B-
-
-
-
1Loss-
GOLGA6C-
-
-
-
1Loss-
GOLGA6D-
-
-
-
1Loss-
GOLGA6L2-
-
-
-
3Gain-
GOLGA6L7-
-
-
-
1Loss-
GOLGA7B-
-
-
-
1Loss-
GOLGA8A-
-
-
-
1Loss-
GOLGA8B-
-
-
-
1Loss-
GOLGA8F-
-
-
-
1Loss-
GOLGA8G-
-
-
-
1Loss-
GOLGA8H-
-
-
-
1Loss-
GOLGA8J-
-
-
-
1Loss-
GOLGA8K-
-
-
-
1Loss-
GOLGA8M-
-
-
-
1Loss-
GOLGA8N-
-
-
-
1Loss-
GOLGA8Q-
-
-
-
1Loss-
GOLGA8R-
-
-
-
1Loss-
GOLGA8S-
-
-
-
3Gain-
GOLGA8T-
-
-
-
1Loss-
GOLM1-
-
-
-
3Gain-
GOLPH3-
-
-
-
1Loss-
GOLPH3L-
-
-
-
3Gain-
GON4L-
-
-
-
3Gain-
GOPC-
-
-
-
1Loss-
GORASP1-
-
-
-
1Loss-
GOT1-
-
-
-
1Loss-
GOT2-
-
-
-
1Loss-
GP1BA-
-
-
-
1Loss-
GP1BB-
-
-
-
1Loss-
GP2-
-
-
-
3Gain-
GPALPP1-
-
-
-
1Loss-
GPAM-
-
-
-
1Loss-
GPAT3-
-
-
-
1Loss-
GPATCH1-
-
-
-
1Loss-
GPATCH3-
-
-
-
1Loss-
GPATCH4-
-
-
-
3Gain-
GPBAR1-
-
-
-
1Loss-
GPBP1-
-
-
-
1Loss-
GPC1-
-
-
-
1Loss-
GPC2-
-
-
-
1Loss-
GPCPD1-
-
-
-
1Loss-
GPD1-
-
-
-
1Loss-
GPD2-
-
-
-
1Loss-
GPI-
-
-
-
1Loss-
GPLD1-
-
-
-
7Amp-
GPM6A-
-
-
-
1Loss-
GPN2-
-
-
-
1Loss-
GPNMB-
-
-
-
1Loss-
GPR1-
-
-
-
1Loss-
GPR108-
-
-
-
3Gain-
GPR12-
-
-
-
1Loss-
GPR139-
-
-
-
3Gain-
GPR141-
-
-
-
1Loss-
GPR148-
-
-
-
3Gain-
GPR150-
-
-
-
1Loss-
GPR151-
-
-
-
1Loss-
GPR158-
-
-
-
5Amp-
GPR162-
-
-
-
3Gain-
GPR17-
-
-
-
3Gain-
GPR176-
-
-
-
1Loss-
GPR182-
-
-
-
1Loss-
GPR22-
-
-
-
1Loss-
GPR26-
-
-
-
1Loss-
GPR27-
-
-
-
1Loss-
GPR3-
-
-
-
1Loss-
GPR35-
-
-
-
1Loss-
GPR37-
-
-
-
1Loss-
GPR39-
-
-
-
3Gain-
GPR4-
-
-
-
1Loss-
GPR42-
-
-
-
1Loss-
GPR55-
-
-
-
1Loss-
GPR6-
-
-
-
1Loss-
GPR62-
-
-
-
1Loss-
GPR63-
-
-
-
1Loss-
GPR78-
-
-
-
1Loss-
GPR84-
-
-
-
1Loss-
GPR85-
-
-
-
1Loss-
GPRC5B-
-
-
-
3Gain-
GPRC6A-
-
-
-
1Loss-
GPRIN2-
-
-
-
1Loss-
GPRIN3-
-
-
-
1Loss-
GPS2-
-
-
-
1Loss-
GPT2-
-
-
-
1Loss-
GPX1-
-
-
-
1Loss-
GPX3-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GPX8-
-
-
-
1Loss-
GRAMD1A-
-
-
-
1Loss-
GRAMD2A-
-
-
-
1Loss-
GRAMD2B-
-
-
-
1Loss-
GRAP-
-
-
-
1Loss-
GRAPL-
-
-
-
1Loss-
GRASP-
-
-
-
1Loss-
GRB14-
-
-
-
1Loss-
GREB1L-
-
-
-
6Amp-
GREM1-
-
-
-
1Loss-
GRHL3-
-
-
-
1Loss-
GRIA1-
-
-
-
1Loss-
GRID1-
-
-
-
1Loss-
GRID2-
-
-
-
1Loss-
GRIK1p.V617L
Missense
SNP
0.439
2--
GRIK2-
-
-
-
1Loss-
GRIK5-
-
-
-
1Loss-
GRIN2A-
-
-
-
3Gain-
GRIN3A-
-
-
-
3Gain-
GRIN3B-
-
-
-
1Loss-
GRIP1-
-
-
-
1Loss-
GRK4-
-
-
-
1Loss-
GRK5-
-
-
-
1Loss-
GRM2-
-
-
-
1Loss-
GRM8-
-
-
-
1Loss-
GRP-
-
-
-
1Loss-
GRPEL1-
-
-
-
1Loss-
GRPEL2-
-
-
-
1Loss-
GRSF1-
-
-
-
1Loss-
GRXCR1-
-
-
-
1Loss-
GRXCR2-
-
-
-
1Loss-
GSC2-
-
-
-
1Loss-
GSDME-
-
-
-
1Loss-
GSE1-
-
-
-
1Loss-
GSG1L-
-
-
-
3Gain-
GSG1L2-
-
-
-
1Loss-
GSK3A-
-
-
-
1Loss-
GSPT1-
-
-
-
3Gain-
GSTA1-
-
-
-
1Loss-
GSTA2-
-
-
-
1Loss-
GSTA3-
-
-
-
1Loss-
GSTA4-
-
-
-
1Loss-
GSTA5-
-
-
-
1Loss-
GSTO1-
-
-
-
1Loss-
GSTO2-
-
-
-
1Loss-
GSX1-
-
-
-
1Loss-
GSX2-
-
-
-
3Gain-
GTDC1-
-
-
-
1Loss-
GTF2A2-
-
-
-
1Loss-
GTF2F1-
-
-
-
1Loss-
GTF2F2-
-
-
-
1Loss-
GTF2H1-
-
-
-
1Loss-
GTF2H2C-
-
-
-
1Loss-
GTF3A-
-
-
-
1Loss-
GTF3C1-
-
-
-
3Gain-
GTF3C6-
-
-
-
1Loss-
GTPBP3-
-
-
-
1Loss-
GTPBP4-
-
-
-
5Amp-
GTSF1-
-
-
-
1Loss-
GUCY2D-
-
-
-
1Loss-
GUF1-
-
-
-
1Loss-
GXYLT1-
-
-
-
1Loss-
GXYLT2-
-
-
-
1Loss-
GYPC-
-
-
-
3Gain-
GZF1-
-
-
-
1Loss-
GZMA-
-
-
-
1Loss-
GZMK-
-
-
-
1Loss-
GZMM-
-
-
-
1Loss-
H1FNT-
-
-
-
1Loss-
H2AFV-
-
-
-
1Loss-
H2AFY-
-
-
-
1Loss-
H2AFY2-
-
-
-
1Loss-
H6PD-
-
-
-
1Loss-
HABP2-
-
-
-
1Loss-
HABP4-
-
-
-
3Gain-
HACD1-
-
-
-
5Amp-
HACD3-
-
-
-
1Loss-
HACD4-
-
-
-
1Loss-
HAGH-
-
-
-
1Loss-
HAGHL-
-
-
-
1Loss-
HAL-
-
-
-
1Loss-
HAMP-
-
-
-
1Loss-
HAND1-
-
-
-
1Loss-
HAND2-
-
-
-
1Loss-
HAO1-
-
-
-
1Loss-
HAPLN1-
-
-
-
1Loss-
HAPLN2-
-
-
-
3Gain-
HAPLN3-
-
-
-
1Loss-
HAPLN4-
-
-
-
1Loss-
HARS-
-
-
-
1Loss-
HARS2-
-
-
-
1Loss-
HAS3-
-
-
-
1Loss-
HASPIN-
-
-
-
1Loss-
HAUS1-
-
-
-
1Loss-
HAUS2-
-
-
-
1Loss-
HAUS5-
-
-
-
1Loss-
HAUS6-
-
-
-
1Loss-
HAUS8-
-
-
-
1Loss-
HAVCR1-
-
-
-
1Loss-
HAVCR2-
-
-
-
1Loss-
HAX1-
-
-
-
3Gain-
HBA1-
-
-
-
1Loss-
HBA2-
-
-
-
1Loss-
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBEGF-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HBM-
-
-
-
1Loss-
HBP1-
-
-
-
1Loss-
HBQ1-
-
-
-
1Loss-
HBZ-
-
-
-
1Loss-
HCFC1R1-
-
-
-
1Loss-
HCFC2-
-
-
-
1Loss-
HCN2-
-
-
-
1Loss-
HCN3-
-
-
-
3Gain-
HCN4-
-
-
-
1Loss-
HCRTR2-
-
-
-
7Amp-
HCST-
-
-
-
1Loss-
HDAC2-
-
-
-
1Loss-
HDAC3-
-
-
-
1Loss-
HDAC4-
-
-
-
1Loss-
HDAC7-
-
-
-
1Loss-
HDAC9-
-
-
-
3Gain-
HDC-
-
-
-
1Loss-
HDDC2-
-
-
-
1Loss-
HDDC3-
-
-
-
1Loss-
HDGF-
-
-
-
3Gain-
HDGFL1-
-
-
-
10Amp-
HDGFL2-
-
-
-
1Loss-
HDGFL3-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HDHD3-
-
-
-
3Gain-
HDHD5-
-
-
-
1Loss-
HDLBP-
-
-
-
1Loss-
HEATR3-
-
-
-
1Loss-
HECTD2-
-
-
-
1Loss-
HECW1-
-
-
-
1Loss-
HELB-
-
-
-
1Loss-
HELLS-
-
-
-
1Loss-
HELQ-
-
-
-
1Loss-
HELT-
-
-
-
1Loss-
HELZ2-
-
-
-
3Gain-
HEMGN-
-
-
-
3Gain-
HEMK1-
-
-
-
1Loss-
HERC1-
-
-
-
1Loss-
HERC2-
-
-
-
1Loss-
HERC3-
-
-
-
1Loss-
HERC4-
-
-
-
1Loss-
HERC5-
-
-
-
1Loss-
HERC6-
-
-
-
1Loss-
HERPUD1-
-
-
-
1Loss-
HERPUD2-
-
-
-
1Loss-
HES1-
-
-
-
2-AL139099.4--HES1
HES6-
-
-
-
1Loss-
HES7-
-
-
-
1Loss-
HESX1-
-
-
-
1Loss-
HEXA-
-
-
-
1Loss-
HEXB-
-
-
-
1Loss-
HEY2-
-
-
-
1Loss-
HGFAC-
-
-
-
1Loss-
HHATL-
-
-
-
1Loss-
HHEX-
-
-
-
1Loss-
HIBADH-
-
-
-
1Loss-
HIC1-
-
-
-
1Loss-
HIF1AN-
-
-
-
1Loss-
HIF3A-
-
-
-
1Loss-
HIGD1C-
-
-
-
1Loss-
HIGD2B-
-
-
-
1Loss-
HILPDA-
-
-
-
1Loss-
HINT1-
-
-
-
1Loss-
HINT3-
-
-
-
1Loss-
HIPK4-
-
-
-
1Loss-
HIRAp.A477T
Missense
SNP
0.081
1Loss-
HIRIP3-
-
-
-
3Gain-
HIST2H2AB-
-
-
-
3Gain-
HIST2H2AC-
-
-
-
3Gain-
HIST2H2BE-
-
-
-
3Gain-
HIVEP1-
-
-
-
3Gain-
HJURP-
-
-
-
1Loss-
HK1-
-
-
-
1Loss-
HKDC1-
-
-
-
1Loss-
HKR1-
-
-
-
1Loss-
HMG20A-
-
-
-
1Loss-
HMG20B-
-
-
-
1Loss-
HMGA2-
-
-
-
1Loss-
HMGB1-
-
-
-
1Loss-
HMGB2-
-
-
-
1Loss-
HMGCL-
-
-
-
1Loss-
HMGCLL1-
-
-
-
7Amp-
HMGCR-
-
-
-
1Loss-
HMGN2-
-
-
-
1Loss-
HMGN3-
-
-
-
1Loss-
HMGXB3-
-
-
-
1Loss-
HMHB1-
-
-
-
1Loss-
HMMR-
-
-
-
1Loss-
HMOX2-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HMX1-
-
-
-
1Loss-
HMX2-
-
-
-
1Loss-
HMX3-
-
-
-
1Loss-
HNMT-
-
-
-
1Loss-
HNRNPA0-
-
-
-
1Loss-
HNRNPA1-
-
-
-
1Loss-
HNRNPA2B1-
-
-
-
1Loss-
HNRNPAB-
-
-
-
1Loss-
HNRNPCL1-
-
-
-
1Loss-
HNRNPCL2-
-
-
-
1Loss-
HNRNPCL3-
-
-
-
1Loss-
HNRNPCL4-
-
-
-
1Loss-
HNRNPD-
-
-
-
1Loss-
HNRNPDL-
-
-
-
1Loss-
HNRNPH3-
-
-
-
1Loss-
HNRNPK-
-
-
-
3Gain-
HNRNPL-
-
-
-
1Loss-
HNRNPM-
-
-
-
3Gain-
HNRNPR-
-
-
-
1Loss-
HNRNPUL1-
-
-
-
1Loss-
HOGA1-
-
-
-
1Loss-
HOMER1-
-
-
-
1Loss-
HOMER2-
-
-
-
1Loss-
HOMER3-
-
-
-
1Loss-
HOOK2-
-
-
-
3Gain-
HOPX-
-
-
-
3Gain-
HORMAD1-
-
-
-
3Gain-
HOXA1-
-
-
-
1Loss-
HOXA10-
-
-
-
1Loss-
HOXA11-
-
-
-
1Loss-
HOXA13-
-
-
-
1Loss-
HOXA2-
-
-
-
1Loss-
HOXA3-
-
-
-
1Loss-
HOXA4-
-
-
-
1Loss-
HOXA5-
-
-
-
1Loss-
HOXA6-
-
-
-
1Loss-
HOXA7-
-
-
-
1Loss-
HOXA9-
-
-
-
1Loss-
HOXC10-
-
-
-
1Loss-
HOXC11-
-
-
-
1Loss-
HOXC12-
-
-
-
1Loss-
HOXC13-
-
-
-
1Loss-
HOXC4-
-
-
-
1Loss-
HOXC5-
-
-
-
1Loss-
HOXC6-
-
-
-
1Loss-
HOXC8-
-
-
-
1Loss-
HOXC9-
-
-
-
1Loss-
HP-
-
-
-
1Loss-
HP1BP3-
-
-
-
1Loss-
HPF1-
-
-
-
1Loss-
HPGD-
-
-
-
1Loss-
HPN-
-
-
-
1Loss-
HPR-
-
-
-
1Loss-
HPS1-
-
-
-
1Loss-
HPS5-
-
-
-
1Loss-
HPS6-
-
-
-
1Loss-
HPSE-
-
-
-
1Loss-
HPSE2-
-
-
-
1Loss-
HPX-
-
-
-
1Loss-
HR-
-
-
-
1Loss-
HRAS-
-
-
-
1Loss-
HRH3-
-
-
-
3Gain-
HRH4-
-
-
-
9Amp-
HRNR-
-
-
-
5Amp-
HS3ST1-
-
-
-
1Loss-
HS3ST2-
-
-
-
3Gain-
HS3ST3A1-
-
-
-
1Loss-
HS3ST3B1-
-
-
-
1Loss-
HS3ST4-
-
-
-
3Gain-
HS3ST5-
-
-
-
1Loss-
HS3ST6-
-
-
-
1Loss-
HS6ST1-
-
-
-
3Gain-
HSBP1-
-
-
-
1Loss-
HSBP1L1-
-
-
-
1Loss-
HSD11B1L-
-
-
-
1Loss-
HSD11B2-
-
-
-
1Loss-
HSD17B11-
-
-
-
1Loss-
HSD17B13-
-
-
-
1Loss-
HSD17B2-
-
-
-
1Loss-
HSD17B3-
-
-
-
3Gain-
HSD17B4-
-
-
-
1Loss-
HSD17B6-
-
-
-
1Loss-
HSD3B7-
-
-
-
3Gain-
HSDL1-
-
-
-
1Loss-
HSDL2-
-
-
-
3Gain-
HSF2-
-
-
-
1Loss-
HSF4-
-
-
-
1Loss-
HSH2D-
-
-
-
1Loss-
HSP90B1-
-
-
-
1Loss-
HSPA12A-
-
-
-
1Loss-
HSPA12B-
-
-
-
1Loss-
HSPA14-
-
-
-
5Amp-
HSPA4-
-
-
-
1Loss-
HSPA9-
-
-
-
1Loss-
HSPB6-
-
-
-
1Loss-
HSPB7-
-
-
-
1Loss-
HSPD1-
-
-
-
2-AL139099.4--HSPD1
HSPG2-
-
-
-
1Loss-
HSPH1-
-
-
-
0Del-
HTATIP2-
-
-
-
1Loss-
HTD2-
-
-
-
1Loss-
HTN1-
-
-
-
1Loss-
HTN3-
-
-
-
1Loss-
HTR1A-
-
-
-
1Loss-
HTR1B-
-
-
-
3Gain-
HTR1D-
-
-
-
1Loss-
HTR1E-
-
-
-
1Loss-
HTR1F-
-
-
-
1Loss-
HTR2A-
-
-
-
1Loss-
HTR2B-
-
-
-
1Loss-
HTR4-
-
-
-
1Loss-
HTR6-
-
-
-
1Loss-
HTR7-
-
-
-
1Loss-
HTRA1-
-
-
-
1Loss-
HTRA3-
-
-
-
1Loss-
HTT-
-
-
-
1Loss-
HUS1-
-
-
-
1Loss-
HUS1B-
-
-
-
5Amp-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
HYAL4-
-
-
-
1Loss-
HYDIN-
-
-
-
1Loss-
HYKK-
-
-
-
1Loss-
HYPK-
-
-
-
1Loss-
IARS-
-
-
-
3Gain-
IBSP-
-
-
-
1Loss-
IBTK-
-
-
-
1Loss-
ICA1-
-
-
-
3Gain-
ICA1L-
-
-
-
1Loss-
ICAM1-
-
-
-
3Gain-
ICAM3-
-
-
-
3Gain-
ICAM4-
-
-
-
3Gain-
ICAM5-
-
-
-
3Gain-
ICE1-
-
-
-
1Loss-
ICE2-
-
-
-
1Loss-
ICK-
-
-
-
1Loss-
ICOS-
-
-
-
1Loss-
ID3-
-
-
-
1Loss-
ID4-
-
-
-
13Amp-
IDE-
-
-
-
1Loss-
IDH1-
-
-
-
1Loss-
IDH2-
-
-
-
1Loss-
IDH3A-
-
-
-
1Loss-
IDH3B-
-
-
-
1Loss-
IDI1-
-
-
-
5Amp-
IDI2-
-
-
-
5Amp-
IDNK-
-
-
-
3Gain-
IER2-
-
-
-
3Gain-
IER3IP1-
-
-
-
1Loss-
IER5-
-
-
-
1Loss-
IFFO1-
-
-
-
3Gain-
IFFO2-
-
-
-
1Loss-
IFI16-
-
-
-
3Gain-
IFI30-
-
-
-
1Loss-
IFI6-
-
-
-
1Loss-
IFIH1-
-
-
-
1Loss-
IFIT1-
-
-
-
1Loss-
IFIT1B-
-
-
-
1Loss-
IFIT2-
-
-
-
1Loss-
IFIT3-
-
-
-
1Loss-
IFIT5-
-
-
-
1Loss-
IFITM1-
-
-
-
1Loss-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFNA1-
-
-
-
1Loss-
IFNA10-
-
-
-
1Loss-
IFNA13-
-
-
-
1Loss-
IFNA14-
-
-
-
1Loss-
IFNA16-
-
-
-
1Loss-
IFNA17-
-
-
-
1Loss-
IFNA2-
-
-
-
1Loss-
IFNA21-
-
-
-
1Loss-
IFNA4-
-
-
-
1Loss-
IFNA5-
-
-
-
1Loss-
IFNA6-
-
-
-
1Loss-
IFNA7-
-
-
-
1Loss-
IFNA8-
-
-
-
1Loss-
IFNB1-
-
-
-
1Loss-
IFNE-
-
-
-
1Loss-
IFNG-
-
-
-
1Loss-
IFNL1-
-
-
-
1Loss-
IFNL2-
-
-
-
1Loss-
IFNL3-
-
-
-
1Loss-
IFNLR1-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFRD1-
-
-
-
1Loss-
IFRD2-
-
-
-
1Loss-
IFT140-
-
-
-
1Loss-
IFT22-
-
-
-
1Loss-
IFT88-
-
-
-
1Loss-
IGDCC3-
-
-
-
1Loss-
IGDCC4-
-
-
-
1Loss-
IGF1-
-
-
-
1Loss-
IGF1R-
-
-
-
1Loss-
IGF2-
-
-
-
1Loss-
IGF2BP3-
-
-
-
1Loss-
IGFALS-
-
-
-
1Loss-
IGFBP1-
-
-
-
1Loss-
IGFBP2-
-
-
-
1Loss-
IGFBP3-
-
-
-
1Loss-
IGFBP5-
-
-
-
1Loss-
IGFBP6-
-
-
-
1Loss-
IGFBP7-
-
-
-
3Gain-
IGFL1-
-
-
-
1Loss-
IGFL2-
-
-
-
1Loss-
IGFL3-
-
-
-
1Loss-
IGFL4-
-
-
-
1Loss-
IGFLR1-
-
-
-
1Loss-
IGHV3OR16-9-
-
-
-
3Gain-
IGIP-
-
-
-
1Loss-
IGSF21-
-
-
-
1Loss-
IGSF22-
-
-
-
1Loss-
IGSF23-
-
-
-
1Loss-
IGSF6-
-
-
-
3Gain-
IGSF8-
-
-
-
3Gain-
IGSF9-
-
-
-
3Gain-
IHH-
-
-
-
1Loss-
IK-
-
-
-
1Loss-
IKBIP-
-
-
-
1Loss-
IKZF1-
-
-
-
1Loss-
IKZF2-
-
-
-
1Loss-
IKZF4-
-
-
-
1Loss-
IKZF5-
-
-
-
1Loss-
IL12B-
-
-
-
1Loss-
IL12RB1-
-
-
-
1Loss-
IL13-
-
-
-
1Loss-
IL15RA-
-
-
-
5Amp-
IL16-
-
-
-
1Loss-
IL17A-
-
-
-
1Loss-
IL17B-
-
-
-
1Loss-
IL17C-
-
-
-
1Loss-
IL17F-
-
-
-
1Loss-
IL17RA-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL21R-
-
-
-
3Gain-
IL22-
-
-
-
1Loss-
IL22RA1-
-
-
-
1Loss-
IL23A-
-
-
-
1Loss-
IL26-
-
-
-
1Loss-
IL27-
-
-
-
3Gain-
IL27RA-
-
-
-
1Loss-
IL2RA-
-
-
-
5Amp-
IL3-
-
-
-
1Loss-
IL31RA-
-
-
-
1Loss-
IL32-
-
-
-
1Loss-
IL34-
-
-
-
1Loss-
IL4-
-
-
-
1Loss-
IL4R-
-
-
-
3Gain-
IL5-
-
-
-
1Loss-
IL6-
-
-
-
1Loss-
IL6R-
-
-
-
3Gain-
IL6ST-
-
-
-
1Loss-
IL9-
-
-
-
1Loss-
ILF2-
-
-
-
3Gain-
ILF3-
-
-
-
3Gain-
ILK-
-
-
-
1Loss-
ILKAP-
-
-
-
1Loss-
ILVBL-
-
-
-
1Loss-
IMMP2L-
-
-
-
1Loss-
IMP3-
-
-
-
1Loss-
IMP4-
-
-
-
3Gain-
IMPACT-
-
-
-
9Amp-
IMPDH1-
-
-
-
1Loss-
IMPDH2-
-
-
-
1Loss-
IMPG1-
-
-
-
3Gain-
INA-
-
-
-
1Loss-
INCA1-
-
-
-
1Loss-
ING2-
-
-
-
1Loss-
ING3-
-
-
-
1Loss-
ING4-
-
-
-
3Gain-
ING5-
-
-
-
1Loss-
INHA-
-
-
-
1Loss-
INHBA-
-
-
-
1Loss-
INHBB-
-
-
-
3Gain-
INHBC-
-
-
-
1Loss-
INHBE-
-
-
-
1Loss-
INIP-
-
-
-
3Gain-
INKA1-
-
-
-
1Loss-
INMT-
-
-
-
1Loss-
INMT-MINDY4-
-
-
-
1Loss-
INO80-
-
-
-
1Loss-
INO80C-
-
-
-
1Loss-
INO80D-
-
-
-
1Loss-
INO80E-
-
-
-
3Gain-
INPP5A-
-
-
-
1Loss-
INPP5D-
-
-
-
1Loss-
INPP5F-
-
-
-
1Loss-
INPP5K-
-
-
-
1Loss-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSC-
-
-
-
1Loss-
INSL3-
-
-
-
1Loss-
INSM1-
-
-
-
1Loss-
INSR-
-
-
-
3Gain-
INSRR-
-
-
-
3Gain-
INSYN1-
-
-
-
1Loss-
INSYN2-
-
-
-
1Loss-
INSYN2B-
-
-
-
1Loss-
INTS10-
-
-
-
1Loss-
INTS14-
-
-
-
1Loss-
INTS3-
-
-
-
3Gain-
INTS6-
-
-
-
1Loss-
INVS-
-
-
-
3Gain-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IPMK-
-
-
-
1Loss-
IPO11-
-
-
-
1Loss-
IPO7-
-
-
-
1Loss-
IPPK-
-
-
-
3Gain-
IQCA1-
-
-
-
1Loss-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCH-
-
-
-
1Loss-
IQCK-
-
-
-
3Gain-
IQCN-
-
-
-
1Loss-
IQGAP1-
-
-
-
1Loss-
IQGAP2-
-
-
-
1Loss-
IQGAP3-
-
-
-
3Gain-
IQSEC3-
-
-
-
3Gain-
IQUB-
-
-
-
1Loss-
IRAK1BP1-
-
-
-
1Loss-
IRAK3-
-
-
-
1Loss-
IRAK4-
-
-
-
1Loss-
IREB2-
-
-
-
1Loss-
IRF1-
-
-
-
1Loss-
IRF2-
-
-
-
1Loss-
IRF2BP1-
-
-
-
1Loss-
IRF4-
-
-
-
5Amp-
IRF5-
-
-
-
1Loss-
IRF7-
-
-
-
1Loss-
IRF8-
-
-
-
1Loss-
IRGC-
-
-
-
1Loss-
IRGM-
-
-
-
1Loss-
IRGQ-
-
-
-
1Loss-
IRS1-
-
-
-
1Loss-
IRX1-
-
-
-
1Loss-
IRX2-
-
-
-
1Loss-
IRX3-
-
-
-
1Loss-
IRX4-
-
-
-
1Loss-
IRX5-
-
-
-
1Loss-
IRX6-
-
-
-
1Loss-
ISCA1-
-
-
-
3Gain-
ISG20-
-
-
-
1Loss-
ISG20L2-
-
-
-
3Gain-
ISL1-
-
-
-
1Loss-
ISL2-
-
-
-
1Loss-
ISLR-
-
-
-
1Loss-
ISLR2-
-
-
-
1Loss-
ISM1-
-
-
-
1Loss-
ISOC1-
-
-
-
1Loss-
ISPD-
-
-
-
3Gain-
IST1-
-
-
-
1Loss-
ISYNA1-
-
-
-
1Loss-
ITFG1-
-
-
-
1Loss-
ITFG2-
-
-
-
3Gain-
ITGA1-
-
-
-
1Loss-
ITGA11-
-
-
-
1Loss-
ITGA2-
-
-
-
1Loss-
ITGA3-
-
-
-
2-ITGA3--RNA5-8SN2
ITGA5-
-
-
-
1Loss-
ITGA7-
-
-
-
1Loss-
ITGA8-
-
-
-
5Amp-
ITGA9-
-
-
-
1Loss-
ITGAD-
-
-
-
3Gain-
ITGAE-
-
-
-
1Loss-
ITGAL-
-
-
-
3Gain-
ITGAM-
-
-
-
3Gain-
ITGAX-
-
-
-
3Gain-
ITGB6-
-
-
-
1Loss-
ITGB7-
-
-
-
1Loss-
ITGB8-
-
-
-
3Gain-
ITIH1-
-
-
-
1Loss-
ITIH2-
-
-
-
5Amp-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITIH5-
-
-
-
5Amp-
ITK-
-
-
-
1Loss-
ITM2B-
-
-
-
1Loss-
ITM2C-
-
-
-
1Loss-
ITPA-
-
-
-
1Loss-
ITPKA-
-
-
-
1Loss-
ITPKC-
-
-
-
1Loss-
ITPRID1-
-
-
-
1Loss-
ITPRIP-
-
-
-
1Loss-
ITPRIPL2-
-
-
-
3Gain-
IVD-
-
-
-
1Loss-
IVL-
-
-
-
3Gain-
IWS1-
-
-
-
3Gain-
IZUMO4-
-
-
-
1Loss-
JADE2-
-
-
-
1Loss-
JAG1-
-
-
-
1Loss-
JAK3-
-
-
-
1Loss-
JAKMIP1-
-
-
-
1Loss-
JAKMIP2-
-
-
-
1Loss-
JAKMIP3-
-
-
-
1Loss-
JAZF1-
-
-
-
1Loss-
JCHAIN-
-
-
-
1Loss-
JMJD1C-
-
-
-
1Loss-
JMJD7-
-
-
-
1Loss-
JMJD7-PLA2G4B-
-
-
-
1Loss-
JMJD8-
-
-
-
1Loss-
JMY-
-
-
-
1Loss-
JPH3-
-
-
-
1Loss-
JPT2-
-
-
-
1Loss-
JSRP1-
-
-
-
1Loss-
JTB-
-
-
-
3Gain-
JUNB-
-
-
-
3Gain-
JUND-
-
-
-
1Loss-
KAAG1-
-
-
-
7Amp-
KANK1-
-
-
-
1Loss-
KANK2-
-
-
-
3Gain-
KANK3-
-
-
-
3Gain-
KANSL1L-
-
-
-
1Loss-
KANSL2-
-
-
-
1Loss-
KARS-
-
-
-
1Loss-
KAT14-
-
-
-
1Loss-
KAT6B-
-
-
-
3Gain-
KAT8-
-
-
-
3Gain-
KATNAL1-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KATNB1-
-
-
-
1Loss-
KATNBL1-
-
-
-
1Loss-
KAZALD1-
-
-
-
1Loss-
KAZN-
-
-
-
1Loss-
KBTBD11-
-
-
-
0Del-
KBTBD11-OT1-
-
-
-
0Del-
KBTBD13-
-
-
-
1Loss-
KBTBD2-
-
-
-
1Loss-
KBTBD6-
-
-
-
1Loss-
KBTBD7-
-
-
-
1Loss-
KBTBD8-
-
-
-
1Loss-
KCNA1-
-
-
-
3Gain-
KCNA5-
-
-
-
3Gain-
KCNA6-
-
-
-
3Gain-
KCNAB3-
-
-
-
1Loss-
KCNC1-
-
-
-
1Loss-
KCNC2-
-
-
-
1Loss-
KCND2-
-
-
-
1Loss-
KCNE4-
-
-
-
1Loss-
KCNG2-
-
-
-
1Loss-
KCNG4-
-
-
-
1Loss-
KCNH3-
-
-
-
1Loss-
KCNH7-
-
-
-
1Loss-
KCNIP1-
-
-
-
1Loss-
KCNIP2-
-
-
-
1Loss-
KCNIP4-
-
-
-
3Gain-
KCNJ10-
-
-
-
3Gain-
KCNJ11-
-
-
-
1Loss-
KCNJ12-
-
-
-
1Loss-
KCNJ13-
-
-
-
1Loss-
KCNJ18-
-
-
-
1Loss-
KCNJ3-
-
-
-
1Loss-
KCNJ9-
-
-
-
3Gain-
KCNK18-
-
-
-
1Loss-
KCNK6-
-
-
-
1Loss-
KCNMA1-
-
-
-
1Loss-
KCNMB1-
-
-
-
1Loss-
KCNMB4-
-
-
-
1Loss-
KCNN1-
-
-
-
1Loss-
KCNN2-
-
-
-
1Loss-
KCNN3-
-
-
-
3Gain-
KCNN4-
-
-
-
1Loss-
KCNQ1-
-
-
-
1Loss-
KCNQ2-
-
-
-
3Gain-
KCNQ5-
-
-
-
3Gain-
KCNRG-
-
-
-
1Loss-
KCP-
-
-
-
1Loss-
KCTD1-
-
-
-
14Amp-
KCTD11-
-
-
-
1Loss-
KCTD13-
-
-
-
3Gain-
KCTD15-
-
-
-
1Loss-
KCTD16-
-
-
-
1Loss-
KCTD19-
-
-
-
1Loss-
KCTD4-
-
-
-
1Loss-
KCTD5-
-
-
-
1Loss-
KCTD6-
-
-
-
1Loss-
KCTD8-
-
-
-
1Loss-
KCTD9-
-
-
-
1Loss-
KDF1-
-
-
-
1Loss-
KDM1A-
-
-
-
1Loss-
KDM3B-
-
-
-
1Loss-
KDM4B-
-
-
-
1Loss-
KDM5A-
-
-
-
3Gain-
KDM6B-
-
-
-
1Loss-
KDM8-
-
-
-
3Gain-
KDR-
-
-
-
3Gain-
KDSR-
-
-
-
1Loss-
KEAP1-
-
-
-
3Gain-
KERA-
-
-
-
1Loss-
KHDC1-
-
-
-
3Gain-
KHDC1L-
-
-
-
3Gain-
KHDC3L-
-
-
-
3Gain-
KHDC4-
-
-
-
3Gain-
KHDRBS2-
-
-
-
3Gain-
KHSRP-
-
-
-
1Loss-
KIAA0232-
-
-
-
1Loss-
KIAA0319-
-
-
-
7Amp-
KIAA0355-
-
-
-
1Loss-
KIAA0408-
-
-
-
1Loss-
KIAA0513-
-
-
-
1Loss-
KIAA0556-
-
-
-
3Gain-
KIAA0753-
-
-
-
1Loss-
KIAA0825-
-
-
-
1Loss-
KIAA0895-
-
-
-
1Loss-
KIAA0895L-
-
-
-
1Loss-
KIAA1024-
-
-
-
1Loss-
KIAA1024L-
-
-
-
1Loss-
KIAA1143-
-
-
-
1Loss-
KIAA1211-
-
-
-
3Gain-
KIAA1217-
-
-
-
5Amp-
KIAA1328-
-
-
-
1Loss-
KIAA1586-
-
-
-
3Gain-
KIAA1614-
-
-
-
1Loss-
KIAA1958-
-
-
-
3Gain-
KIAA2012-
-
-
-
1Loss-
KIAA2013-
-
-
-
1Loss-
KIDINS220p.S1373L
Missense
SNP
0.497
2--
KIF11-
-
-
-
1Loss-
KIF12-
-
-
-
3Gain-
KIF15-
-
-
-
1Loss-
KIF16B-
-
-
-
1Loss-
KIF17-
-
-
-
1Loss-
KIF1A-
-
-
-
1Loss-
KIF1B-
-
-
-
1Loss-
KIF1BP-
-
-
-
1Loss-
KIF1C-
-
-
-
1Loss-
KIF20A-
-
-
-
1Loss-
KIF20B-
-
-
-
1Loss-
KIF22-
-
-
-
3Gain-
KIF23-
-
-
-
1Loss-
KIF27-
-
-
-
3Gain-
KIF2A-
-
-
-
1Loss-
KIF3A-
-
-
-
1Loss-
KIF4B-
-
-
-
1Loss-
KIF5A-
-
-
-
1Loss-
KIF5C-
-
-
-
1Loss-
KIF7-
-
-
-
1Loss-
KIF9-
-
-
-
1Loss-
KIFC3-
-
-
-
1Loss-
KIN-
-
-
-
5Amp-
KIR2DL1-
-
-
-
3Gain-
KIR2DL3-
-
-
-
3Gain-
KIR2DL4-
-
-
-
3Gain-
KIR3DL1-
-
-
-
3Gain-
KIR3DL2-
-
-
-
3Gain-
KIR3DL3-
-
-
-
3Gain-
KIRRELp.A505V
Missense
SNP
0.633
NDND-
KIRREL1-
-
-
-
3Gain-
KIRREL2-
-
-
-
1Loss-
KISS1-
-
-
-
2-RNA5-8SN2--KISS1
KISS1R-
-
-
-
1Loss-
KIT-
-
-
-
3Gain-
KITLG-
-
-
-
1Loss-
KIZ-
-
-
-
1Loss-
KL-
-
-
-
0Del-
KLB-
-
-
-
3Gain-
KLC3-
-
-
-
1Loss-
KLF1-
-
-
-
3Gain-
KLF13-
-
-
-
1Loss-
KLF14-
-
-
-
1Loss-
KLF16-
-
-
-
1Loss-
KLF2-
-
-
-
1Loss-
KLF3-
-
-
-
3Gain-
KLF4-
-
-
-
3Gain-
KLF6-
-
-
-
5Amp-
KLF7-
-
-
-
1Loss-
KLF9-
-
-
-
3Gain-
KLHDC10-
-
-
-
1Loss-
KLHDC3-
-
-
-
2-KLHDC3--AL139099.4
KLHDC4-
-
-
-
1Loss-
KLHDC7A-
-
-
-
1Loss-
KLHDC8B-
-
-
-
1Loss-
KLHL14-
-
-
-
1Loss-
KLHL18-
-
-
-
1Loss-
KLHL22-
-
-
-
1Loss-
KLHL25-
-
-
-
1Loss-
KLHL26-
-
-
-
1Loss-
KLHL3-
-
-
-
1Loss-
KLHL30-
-
-
-
1Loss-
KLHL31-
-
-
-
1Loss-
KLHL32-
-
-
-
1Loss-
KLHL36-
-
-
-
1Loss-
KLHL40-
-
-
-
1Loss-
KLHL5-
-
-
-
3Gain-
KLHL7-
-
-
-
1Loss-
KLHL8-
-
-
-
1Loss-
KLHL9-
-
-
-
1Loss-
KLKB1-
-
-
-
1Loss-
KLLN-
-
-
-
1Loss-
KMT2B-
-
-
-
1Loss-
KMT2D-
-
-
-
1Loss-
KMT2E-
-
-
-
1Loss-
KNDC1-
-
-
-
1Loss-
KNL1-
-
-
-
1Loss-
KNOP1-
-
-
-
3Gain-
KNSTRN-
-
-
-
1Loss-
KPNA3-
-
-
-
1Loss-
KPNA5-
-
-
-
1Loss-
KPNA7-
-
-
-
1Loss-
KPRP-
-
-
-
3Gain-
KRBA2-
-
-
-
1Loss-
KRBOX1-
-
-
-
1Loss-
KREMEN2-
-
-
-
1Loss-
KRI1-
-
-
-
3Gain-
KRR1-
-
-
-
1Loss-
KRT1-
-
-
-
1Loss-
KRT18-
-
-
-
1Loss-
KRT2-
-
-
-
1Loss-
KRT3-
-
-
-
1Loss-
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-
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3-
-
-
-
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KRTCAP2-
-
-
-
3Gain-
KRTDAP-
-
-
-
1Loss-
KXD1-
-
-
-
1Loss-
KYNU-
-
-
-
1Loss-
L34079.1-
-
-
-
1Loss-
LACC1-
-
-
-
1Loss-
LACRT-
-
-
-
1Loss-
LACTB-
-
-
-
1Loss-
LACTBL1-
-
-
-
1Loss-
LAG3-
-
-
-
3Gain-
LAIR1-
-
-
-
3Gain-
LAIR2-
-
-
-
3Gain-
LALBA-
-
-
-
1Loss-
LAMA2-
-
-
-
1Loss-
LAMA3-
-
-
-
7Amp-
LAMA4-
-
-
-
1Loss-
LAMA5-
-
-
-
3Gain-
LAMB1-
-
-
-
1Loss-
LAMB2-
-
-
-
1Loss-
LAMB4-
-
-
-
1Loss-
LAMP5-
-
-
-
1Loss-
LAMTOR2-
-
-
-
3Gain-
LAMTOR4-
-
-
-
1Loss-
LANCL1-
-
-
-
1Loss-
LAP3-
-
-
-
3Gain-
LARP1-
-
-
-
1Loss-
LARP4-
-
-
-
1Loss-
LARP4B-
-
-
-
5Amp-
LARP6-
-
-
-
1Loss-
LARS-
-
-
-
1Loss-
LARS2-
-
-
-
1Loss-
LAT-
-
-
-
3Gain-
LATS2-
-
-
-
1Loss-
LBX1-
-
-
-
1Loss-
LCA5-
-
-
-
1Loss-
LCAT-
-
-
-
1Loss-
LCE1A-
-
-
-
3Gain-
LCE1B-
-
-
-
3Gain-
LCE1C-
-
-
-
3Gain-
LCE1E-
-
-
-
3Gain-
LCE1F-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3B-
-
-
-
3Gain-
LCE3C-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCE6A-
-
-
-
3Gain-
LCMT1-
-
-
-
3Gain-
LCMT2-
-
-
-
1Loss-
LCOR-
-
-
-
1Loss-
LCORL-
-
-
-
3Gain-
LCP1-
-
-
-
1Loss-
LCP2-
-
-
-
1Loss-
LCT-
-
-
-
1Loss-
LCTL-
-
-
-
1Loss-
LDB1-
-
-
-
1Loss-
LDB2-
-
-
-
3Gain-
LDB3-
-
-
-
1Loss-
LDHA-
-
-
-
1Loss-
LDHAL6A-
-
-
-
1Loss-
LDHAL6B-
-
-
-
1Loss-
LDHC-
-
-
-
1Loss-
LDHD-
-
-
-
1Loss-
LDLR-
-
-
-
3Gain-
LDLRAD2-
-
-
-
1Loss-
LDLRAP1-
-
-
-
1Loss-
LEAP2-
-
-
-
1Loss-
LECT2-
-
-
-
1Loss-
LELP1-
-
-
-
3Gain-
LEMD3-
-
-
-
1Loss-
LENEP-
-
-
-
3Gain-
LENG1-
-
-
-
3Gain-
LENG8-
-
-
-
3Gain-
LENG9-
-
-
-
3Gain-
LEO1-
-
-
-
1Loss-
LEP-
-
-
-
1Loss-
LETMD1-
-
-
-
1Loss-
LEUTX-
-
-
-
1Loss-
LGALS13-
-
-
-
1Loss-
LGALS14-
-
-
-
1Loss-
LGALS16-
-
-
-
1Loss-
LGALS4-
-
-
-
1Loss-
LGALS7-
-
-
-
1Loss-
LGALS7B-
-
-
-
1Loss-
LGALS9B-
-
-
-
1Loss-
LGALS9C-
-
-
-
1Loss-
LGI1-
-
-
-
1Loss-
LGI2-
-
-
-
1Loss-
LGI3-
-
-
-
1Loss-
LGI4-
-
-
-
1Loss-
LGR5-
-
-
-
1Loss-
LGSN-
-
-
-
3Gain-
LHFPL2-
-
-
-
1Loss-
LHFPL3-
-
-
-
1Loss-
LHFPL6-
-
-
-
1Loss-
LHPP-
-
-
-
1Loss-
LHX4-
-
-
-
1Loss-
LIAS-
-
-
-
3Gain-
LILRA1-
-
-
-
3Gain-
LILRA2-
-
-
-
3Gain-
LILRA4-
-
-
-
3Gain-
LILRA5-
-
-
-
3Gain-
LILRA6-
-
-
-
3Gain-
LILRB1-
-
-
-
3Gain-
LILRB2-
-
-
-
3Gain-
LILRB3-
-
-
-
3Gain-
LILRB4-
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3Gain-
LILRB5-
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3Gain-
LIMA1-
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1Loss-
LIMCH1-
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1Loss-
LIMD1-
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1Loss-
LIME1-
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3Gain-
LIMS2-
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3Gain-
LIN28A-
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1Loss-
LIN37-
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1Loss-
LIN54-
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1Loss-
LIN7A-
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1Loss-
LINC02203-
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3Gain-
LINGO1-
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1Loss-
LINGO3-
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1Loss-
LINGO4-
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3Gain-
LINS1-
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1Loss-
LIPA-
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1Loss-
LIPC-
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1Loss-
LIPE-
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1Loss-
LIPF-
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1Loss-
LIPG-
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1Loss-
LIPJ-
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1Loss-
LIPK-
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1Loss-
LIPM-
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1Loss-
LIPN-
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1Loss-
LITAF-
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3Gain-
LIX1-
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1Loss-
LKAAEAR1-
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3Gain-
LLGL1-
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1Loss-
LLPH-
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1Loss-
LMAN1-
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1Loss-
LMAN1L-
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1Loss-
LMBR1L-
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1Loss-
LMBRD1-
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3Gain-
LMF1-
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1Loss-
LMNA-
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3Gain-
LMNB1-
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1Loss-
LMNB2-
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1Loss-
LMNTD2-
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1Loss-
LMO1-
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1Loss-
LMOD2-
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1Loss-
LMOD3-
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1Loss-
LNPEP-
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1Loss-
LNX1-
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3Gain-
LNX2-
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1Loss-
LONP1-
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1Loss-
LONP2-
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1Loss-
LONRF1-
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1Loss-
LOR-
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3Gain-
LOX-
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1Loss-
LOXHD1-
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1Loss-
LOXL1-
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1Loss-
LOXL2-
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1Loss-
LOXL4-
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1Loss-
LPAR1-
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3Gain-
LPAR2-
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1Loss-
LPAR5-
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3Gain-
LPAR6-
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1Loss-
LPCAT1-
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1Loss-
LPCAT2-
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1Loss-
LPCAT3-
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3Gain-
LPCAT4-
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1Loss-
LPL-
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1Loss-
LRCH1-
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1Loss-
LRCH4-
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1Loss-
LRFN1-
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1Loss-
LRFN3-
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1Loss-
LRG1-
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1Loss-
LRGUK-
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1Loss-
LRIG1-
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1Loss-
LRIG3-
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1Loss-
LRIT1-
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1Loss-
LRIT2-
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1Loss-
LRMDA-
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3Gain-
LRP1-
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1Loss-
LRP1B-
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1Loss-
LRP2BP-
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1Loss-
LRP3-
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1Loss-
LRPAP1-
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1Loss-
LRRC1-
-
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1Loss-
LRRC10-
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1Loss-
LRRC14B-
-
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1Loss-
LRRC17-
-
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1Loss-
LRRC18-
-
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1Loss-
LRRC2-
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1Loss-
LRRC20-
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1Loss-
LRRC23-
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3Gain-
LRRC25-
-
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1Loss-
LRRC27-
-
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1Loss-
LRRC28-
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1Loss-
LRRC29-
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1Loss-
LRRC36-
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1Loss-
LRRC38-
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1Loss-
LRRC4-
-
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1Loss-
LRRC49-
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1Loss-
LRRC56-
-
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1Loss-
LRRC57-
-
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1Loss-
LRRC63-
-
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1Loss-
LRRC66-
-
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3Gain-
LRRC70-
-
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1Loss-
LRRC71-
-
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3Gain-
LRRC72-
-
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3Gain-
LRRC75A-
-
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1Loss-
LRRC8E-
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3Gain-
LRRFIP1-
-
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1Loss-
LRRFIP2-
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1Loss-
LRRIQ1-
-
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1Loss-
LRRK1-
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1Loss-
LRRK2-
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1Loss-
LRRN3-
-
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1Loss-
LRRN4-
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1Loss-
LRRTM2-
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1Loss-
LRRTM3-
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1Loss-
LRTM1-
-
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1Loss-
LRTM2-
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3Gain-
LRWD1-
-
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-
1Loss-
LSM11-
-
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-
1Loss-
LSM14A-
-
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-
1Loss-
LSM14B-
-
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-
3Gain-
LSM4-
-
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-
1Loss-
LSM5-
-
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1Loss-
LSM7-
-
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-
1Loss-
LSM8-
-
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1Loss-
LSMEM1-
-
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-
1Loss-
LSMEM2-
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1Loss-
LSP1-
-
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-
1Loss-
LSR-
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-
1Loss-
LTA4H-
-
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-
1Loss-
LTBP4-
-
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-
1Loss-
LTBR-
-
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-
3Gain-
LTF-
-
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-
1Loss-
LTK-
-
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-
1Loss-
LUC7L-
-
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1Loss-
LUM-
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-
1Loss-
LUZP1-
-
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1Loss-
LUZP2-
-
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1Loss-
LUZP6-
-
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1Loss-
LVRN-
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1Loss-
LY75-
-
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1Loss-
LY75-CD302-
-
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1Loss-
LY86-
-
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3Gain-
LYAR-
-
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-
1Loss-
LYL1-
-
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3Gain-
LYPD1-
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3Gain-
LYPD3-
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1Loss-
LYPD4-
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1Loss-
LYPD5-
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1Loss-
LYPD6-
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1Loss-
LYPD6B-
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1Loss-
LYPLA2-
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1Loss-
LYRM1-
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3Gain-
LYRM2-
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1Loss-
LYRM4-
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3Gain-
LYRM7-
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1Loss-
LYSMD1-
-
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3Gain-
LYSMD2-
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-
1Loss-
LYSMD3-
-
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1Loss-
LYSMD4-
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1Loss-
LYVE1-
-
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1Loss-
LYZ-
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-
1Loss-
LYZL4-
-
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1Loss-
LZIC-
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1Loss-
LZTFL1-
-
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1Loss-
LZTS1-
-
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-
1Loss-
LZTS2-
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-
1Loss-
LZTS3-
-
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1Loss-
MAB21L1-
-
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-
1Loss-
MAB21L4-
-
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-
1Loss-
MACC1-
-
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-
3Gain-
MACO1-
-
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-
1Loss-
MACROD2-
-
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-
1Loss-
MAD2L2-
-
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-
1Loss-
MADCAM1-
-
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1Loss-
MAF-
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-
1Loss-
MAG-
-
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-
1Loss-
MAGEL2-
-
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-
3Gain-
MAGI1-
-
-
-
1Loss-
MAK-
-
-
-
3Gain-
MALRD1-
-
-
-
5Amp-
MALSU1-
-
-
-
1Loss-
MALT1-
-
-
-
1Loss-
MAMDC2-
-
-
-
3Gain-
MAN1A1-
-
-
-
1Loss-
MAN1C1-
-
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-
1Loss-
MAN2A1-
-
-
-
1Loss-
MAN2A2-
-
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-
1Loss-
MAN2B1-
-
-
-
3Gain-
MAN2B2-
-
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-
1Loss-
MAN2C1-
-
-
-
1Loss-
MANEA-
-
-
-
1Loss-
MANF-
-
-
-
1Loss-
MAP1A-
-
-
-
1Loss-
MAP1B-
-
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-
1Loss-
MAP1LC3B-
-
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-
1Loss-
MAP1S-
-
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1Loss-
MAP2-
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1Loss-
MAP2K1-
-
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1Loss-
MAP2K2-
-
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1Loss-
MAP2K3-
-
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1Loss-
MAP2K4-
-
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1Loss-
MAP2K5-
-
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1Loss-
MAP2K7-
-
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3Gain-
MAP3K1-
-
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-
1Loss-
MAP3K10-
-
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-
1Loss-
MAP3K12-
-
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-
1Loss-
MAP3K19-
-
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-
1Loss-
MAP3K2-
-
-
-
3Gain-
MAP3K6-
-
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-
1Loss-
MAP3K7-
-
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-
1Loss-
MAP4-
-
-
-
1Loss-
MAP4K1-
-
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-
1Loss-
MAPK10-
-
-
-
1Loss-
MAPK3-
-
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-
3Gain-
MAPK4-
-
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-
1Loss-
MAPK6-
-
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-
1Loss-
MAPK7-
-
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-
1Loss-
MAPK8-
-
-
-
1Loss-
MAPK8IP3-
-
-
-
1Loss-
MAPKAPK3-
-
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-
1Loss-
MAPKBP1-
-
-
-
1Loss-
MAPRE2-
-
-
-
1Loss-
MARCH11-
-
-
-
3Gain-
MARCH2-
-
-
-
3Gain-
MARCH3-
-
-
-
1Loss-
MARCH4-
-
-
-
1Loss-
MARCH5-
-
-
-
1Loss-
MARCH6-
-
-
-
1Loss-
MARCH7-
-
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-
1Loss-
MARCH9-
-
-
-
1Loss-
MARCKS-
-
-
-
1Loss-
MARCO-
-
-
-
3Gain-
MARF1-
-
-
-
3Gain-
MARK4-
-
-
-
1Loss-
MARS-
-
-
-
1Loss-
MARVELD1-
-
-
-
1Loss-
MARVELD2-
-
-
-
1Loss-
MARVELD3-
-
-
-
1Loss-
MASP2-
-
-
-
1Loss-
MAST1-
-
-
-
3Gain-
MAST3-
-
-
-
1Loss-
MAST4-
-
-
-
1Loss-
MAT1A-
-
-
-
1Loss-
MAT2B-
-
-
-
1Loss-
MATK-
-
-
-
1Loss-
MATR3-
-
-
-
1Loss-
MAU2-
-
-
-
1Loss-
MAVS-
-
-
-
1Loss-
MAZ-
-
-
-
3Gain-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD3-
-
-
-
1Loss-
MBD3L1-
-
-
-
3Gain-
MBD3L2-
-
-
-
3Gain-
MBD3L3-
-
-
-
3Gain-
MBD5-
-
-
-
1Loss-
MBD6-
-
-
-
1Loss-
MBL2-
-
-
-
1Loss-
MBLAC1-
-
-
-
1Loss-
MBLAC2-
-
-
-
1Loss-
MBOAT1-
-
-
-
13Amp-
MBOAT7-
-
-
-
3Gain-
MBP-
-
-
-
1Loss-
MBTPS1-
-
-
-
1Loss-
MC1R-
-
-
-
1Loss-
MC4R-
-
-
-
1Loss-
MCC-
-
-
-
1Loss-
MCCC2-
-
-
-
1Loss-
MCEMP1-
-
-
-
3Gain-
MCHR2-
-
-
-
1Loss-
MCIDAS-
-
-
-
1Loss-
MCL1-
-
-
-
3Gain-
MCM10-
-
-
-
5Amp-
MCM3-
-
-
-
1Loss-
MCM6-
-
-
-
1Loss-
MCM7-
-
-
-
1Loss-
MCM8-
-
-
-
1Loss-
MCM9-
-
-
-
1Loss-
MCMBP-
-
-
-
1Loss-
MCOLN1-
-
-
-
3Gain-
MCPH1-
-
-
-
1Loss-
MCRIP2-
-
-
-
1Loss-
MCRS1-
-
-
-
1Loss-
MCTP1-
-
-
-
1Loss-
MCTP2-
-
-
-
1Loss-
MCU-
-
-
-
1Loss-
MCUR1-
-
-
-
3Gain-
MDFIC-
-
-
-
1Loss-
MDH1B-
-
-
-
1Loss-
MDM1-
-
-
-
1Loss-
MDM2-
-
-
-
1Loss-
MDN1-
-
-
-
1Loss-
ME1-
-
-
-
1Loss-
ME2-
-
-
-
1Loss-
MED10-
-
-
-
1Loss-
MED11-
-
-
-
1Loss-
MED16-
-
-
-
1Loss-
MED26-
-
-
-
1Loss-
MED28-
-
-
-
3Gain-
MED29-
-
-
-
1Loss-
MED31-
-
-
-
1Loss-
MED4-
-
-
-
1Loss-
MED7-
-
-
-
1Loss-
MED9-
-
-
-
1Loss-
MEDAG-
-
-
-
0Del-
MEF2A-
-
-
-
1Loss-
MEF2B-
-
-
-
1Loss-
MEF2C-
-
-
-
1Loss-
MEF2D-
-
-
-
3Gain-
MEFV-
-
-
-
1Loss-
MEGF10-
-
-
-
1Loss-
MEGF11-
-
-
-
1Loss-
MEGF8-
-
-
-
1Loss-
MEIG1-
-
-
-
5Amp-
MEIOB-
-
-
-
1Loss-
MEIS2-
-
-
-
1Loss-
MEOX2-
-
-
-
3Gain-
MEP1A-
-
-
-
1Loss-
MEP1B-
-
-
-
1Loss-
MEPCE-
-
-
-
1Loss-
MEPE-
-
-
-
1Loss-
MESD-
-
-
-
1Loss-
MESP1-
-
-
-
1Loss-
MESP2-
-
-
-
1Loss-
MEST-
-
-
-
1Loss-
MET-
-
-
-
1Loss-
METAP2-
-
-
-
1Loss-
METRN-
-
-
-
1Loss-
METTL1-
-
-
-
1Loss-
METTL16-
-
-
-
1Loss-
METTL21A-
-
-
-
1Loss-
METTL22-
-
-
-
3Gain-
METTL24-
-
-
-
1Loss-
METTL25-
-
-
-
1Loss-
METTL26-
-
-
-
1Loss-
METTL2B-
-
-
-
1Loss-
METTL7A-
-
-
-
1Loss-
METTL7B-
-
-
-
1Loss-
METTL9-
-
-
-
3Gain-
MEX3A-
-
-
-
3Gain-
MEX3B-
-
-
-
1Loss-
MEX3C-
-
-
-
1Loss-
MEX3D-
-
-
-
1Loss-
MFAP1-
-
-
-
1Loss-
MFAP2-
-
-
-
1Loss-
MFAP3-
-
-
-
1Loss-
MFAP3L-
-
-
-
1Loss-
MFAP4-
-
-
-
1Loss-
MFF-
-
-
-
1Loss-
MFGE8-
-
-
-
1Loss-
MFHAS1-
-
-
-
1Loss-
MFN2-
-
-
-
1Loss-
MFSD10-
-
-
-
1Loss-
MFSD12-
-
-
-
1Loss-
MFSD13A-
-
-
-
1Loss-
MFSD14B-
-
-
-
3Gain-
MFSD14C-
-
-
-
3Gain-
MFSD4B-
-
-
-
1Loss-
MFSD5-
-
-
-
1Loss-
MFSD6L-
-
-
-
1Loss-
MGA-
-
-
-
1Loss-
MGAT4C-
-
-
-
1Loss-
MGAT5-
-
-
-
1Loss-
MGME1-
-
-
-
1Loss-
MGMT-
-
-
-
1Loss-
MGRN1-
-
-
-
1Loss-
MIA-
-
-
-
1Loss-
MIA-RAB4B-
-
-
-
1Loss-
MIB1-
-
-
-
6Amp-
MICAL1-
-
-
-
1Loss-
MICAL2-
-
-
-
1Loss-
MICAL3-
-
-
-
1Loss-
MICU1-
-
-
-
1Loss-
MICU2-
-
-
-
1Loss-
MICU3-
-
-
-
1Loss-
MIDN-
-
-
-
1Loss-
MIEF2-
-
-
-
1Loss-
MIER2-
-
-
-
1Loss-
MIER3-
-
-
-
1Loss-
MIIP-
-
-
-
1Loss-
MINDY1-
-
-
-
3Gain-
MINDY2-
-
-
-
1Loss-
MINDY3-
-
-
-
5Amp-
MINDY4-
-
-
-
1Loss-
MINK1-
-
-
-
1Loss-
MINOS1-
-
-
-
1Loss-
MINOS1-NBL1-
-
-
-
1Loss-
MINPP1-
-
-
-
1Loss-
MIOS-
-
-
-
3Gain-
MIP-
-
-
-
1Loss-
MIPEP-
-
-
-
1Loss-
MIS12-
-
-
-
1Loss-
MISP-
-
-
-
1Loss-
MISP3-
-
-
-
1Loss-
MITF-
-
-
-
1Loss-
MKI67-
-
-
-
1Loss-
MKKS-
-
-
-
1Loss-
MKLN1-
-
-
-
1Loss-
MKNK2-
-
-
-
1Loss-
MKRN3-
-
-
-
3Gain-
MLF2-
-
-
-
3Gain-
MLH1-
-
-
-
1Loss-
MLIP-
-
-
-
1Loss-
MLKL-
-
-
-
1Loss-
MLLT1-
-
-
-
1Loss-
MLLT10-
-
-
-
5Amp-
MLLT11-
-
-
-
3Gain-
MLLT3-
-
-
-
1Loss-
MLNR-
-
-
-
1Loss-
MLPH-
-
-
-
1Loss-
MLST8-
-
-
-
1Loss-
MLYCD-
-
-
-
1Loss-
MMADHC-
-
-
-
1Loss-
MMP15-
-
-
-
1Loss-
MMP19-
-
-
-
1Loss-
MMP2-
-
-
-
1Loss-
MMP21-
-
-
-
1Loss-
MMP25-
-
-
-
1Loss-
MMP26-
-
-
-
1Loss-
MMRN1-
-
-
-
1Loss-
MMRN2-
-
-
-
1Loss-
MMS19-
-
-
-
1Loss-
MMS22L-
-
-
-
1Loss-
MNDA-
-
-
-
3Gain-
MNS1-
-
-
-
1Loss-
MNT-
-
-
-
1Loss-
MOB1B-
-
-
-
1Loss-
MOB2-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOBP-
-
-
-
1Loss-
MOCOS-
-
-
-
1Loss-
MOCS2-
-
-
-
1Loss-
MOGAT1-
-
-
-
1Loss-
MOGAT3-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MON1B-
-
-
-
1Loss-
MON2-
-
-
-
1Loss-
MORF4L1-
-
-
-
1Loss-
MORN4-
-
-
-
1Loss-
MOSMO-
-
-
-
3Gain-
MOSPD3-
-
-
-
1Loss-
MPDU1-
-
-
-
1Loss-
MPG-
-
-
-
1Loss-
MPHOSPH6-
-
-
-
1Loss-
MPHOSPH8-
-
-
-
1Loss-
MPI-
-
-
-
1Loss-
MPLKIP-
-
-
-
1Loss-
MPND-
-
-
-
1Loss-
MPP4-
-
-
-
1Loss-
MPP6-
-
-
-
1Loss-
MPRIP-
-
-
-
1Loss-
MPV17L-
-
-
-
3Gain-
MPV17L2-
-
-
-
1Loss-
MR1-
-
-
-
1Loss-
MRAP2-
-
-
-
1Loss-
MRC1-
-
-
-
5Amp-
MREG-
-
-
-
1Loss-
MRFAP1-
-
-
-
1Loss-
MRFAP1L1-
-
-
-
1Loss-
MRGBP-
-
-
-
3Gain-
MRGPRE-
-
-
-
1Loss-
MRGPRG-
-
-
-
1Loss-
MRGPRX1-
-
-
-
1Loss-
MRGPRX2-
-
-
-
1Loss-
MRGPRX3-
-
-
-
1Loss-
MRGPRX4-
-
-
-
1Loss-
MRM3-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH2A-
-
-
-
1Loss-
MRPL1-
-
-
-
1Loss-
MRPL17-
-
-
-
1Loss-
MRPL22-
-
-
-
1Loss-
MRPL23-
-
-
-
1Loss-
MRPL24-
-
-
-
3Gain-
MRPL28-
-
-
-
1Loss-
MRPL32-
-
-
-
1Loss-
MRPL34-
-
-
-
1Loss-
MRPL36-
-
-
-
1Loss-
MRPL4-
-
-
-
3Gain-
MRPL40-
-
-
-
1Loss-
MRPL42-
-
-
-
1Loss-
MRPL43-
-
-
-
1Loss-
MRPL44-
-
-
-
1Loss-
MRPL46-
-
-
-
1Loss-
MRPL50-
-
-
-
3Gain-
MRPL51-
-
-
-
3Gain-
MRPL54-
-
-
-
1Loss-
MRPL57-
-
-
-
1Loss-
MRPL9-
-
-
-
3Gain-
MRPS11-
-
-
-
1Loss-
MRPS12-
-
-
-
1Loss-
MRPS16-
-
-
-
1Loss-
MRPS18C-
-
-
-
1Loss-
MRPS21-
-
-
-
3Gain-
MRPS24-
-
-
-
1Loss-
MRPS26-
-
-
-
1Loss-
MRPS27-
-
-
-
1Loss-
MRPS31-
-
-
-
1Loss-
MRPS34-
-
-
-
1Loss-
MRPS36-
-
-
-
1Loss-
MRS2-
-
-
-
7Amp-
MRTFB-
-
-
-
3Gain-
MRTO4-
-
-
-
1Loss-
MRVI1-
-
-
-
1Loss-
MSANTD1-
-
-
-
1Loss-
MSANTD3-
-
-
-
3Gain-
MSANTD3-TMEFF1-
-
-
-
3Gain-
MSH3-
-
-
-
1Loss-
MSLN-
-
-
-
1Loss-
MSLNL-
-
-
-
1Loss-
MSMO1-
-
-
-
1Loss-
MSR1-
-
-
-
1Loss-
MSRA-
-
-
-
1Loss-
MSRB1-
-
-
-
1Loss-
MSRB2-
-
-
-
5Amp-
MSRB3-
-
-
-
1Loss-
MSS51-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MSTO1-
-
-
-
3Gain-
MSX1-
-
-
-
1Loss-
MT1A-
-
-
-
1Loss-
MT1B-
-
-
-
1Loss-
MT1E-
-
-
-
1Loss-
MT1F-
-
-
-
1Loss-
MT1G-
-
-
-
1Loss-
MT1H-
-
-
-
1Loss-
MT1M-
-
-
-
1Loss-
MT1X-
-
-
-
1Loss-
MT2A-
-
-
-
1Loss-
MT3-
-
-
-
1Loss-
MT4-
-
-
-
1Loss-
MTAP-
-
-
-
1Loss-
MTERF2-
-
-
-
1Loss-
MTERF4-
-
-
-
1Loss-
MTFMT-
-
-
-
1Loss-
MTFR1L-
-
-
-
1Loss-
MTG1-
-
-
-
1Loss-
MTG2-
-
-
-
3Gain-
MTHFD2L-
-
-
-
1Loss-
MTHFR-
-
-
-
1Loss-
MTHFS-
-
-
-
1Loss-
MTHFSD-
-
-
-
1Loss-
MTIF3-
-
-
-
1Loss-
MTMR10-
-
-
-
1Loss-
MTMR11-
-
-
-
3Gain-
MTMR12-
-
-
-
1Loss-
MTMR6-
-
-
-
1Loss-
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTNR1A-
-
-
-
1Loss-
MTO1-
-
-
-
3Gain-
MTOR-
-
-
-
1Loss-
MTPN-
-
-
-
1Loss-
MTREX-
-
-
-
1Loss-
MTRF1-
-
-
-
1Loss-
MTRR-
-
-
-
1Loss-
MTSS1L-
-
-
-
1Loss-
MTURN-
-
-
-
1Loss-
MTUS1-
-
-
-
1Loss-
MTUS2-
-
-
-
1Loss-
MTX1-
-
-
-
3Gain-
MTX3-
-
-
-
1Loss-
MUC1-
-
-
-
3Gain-
MUC16-
-
-
-
3Gain-
MUC19-
-
-
-
1Loss-
MUC2-
-
-
-
1Loss-
MUC3A-
-
-
-
1Loss-
MUC5AC-
-
-
-
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUC7-
-
-
-
1Loss-
MUCL1-
-
-
-
1Loss-
MUL1-
-
-
-
1Loss-
MUM1-
-
-
-
1Loss-
MUSK-
-
-
-
3Gain-
MUSTN1-
-
-
-
1Loss-
MUT-
-
-
-
1Loss-
MVB12A-
-
-
-
1Loss-
MVD-
-
-
-
1Loss-
MVP-
-
-
-
3Gain-
MXI1-
-
-
-
1Loss-
MYADM-
-
-
-
3Gain-
MYBBP1A-
-
-
-
1Loss-
MYBPC1-
-
-
-
1Loss-
MYD88-
-
-
-
1Loss-
MYDGF-
-
-
-
1Loss-
MYEF2-
-
-
-
1Loss-
MYF5-
-
-
-
1Loss-
MYF6-
-
-
-
1Loss-
MYH1-
-
-
-
1Loss-
MYH10-
-
-
-
1Loss-
MYH11-
-
-
-
3Gain-
MYH13-
-
-
-
1Loss-
MYH2p.S1164L
Missense
SNP
1.000
1Loss-
MYH3-
-
-
-
1Loss-
MYH4-
-
-
-
1Loss-
MYH8-
-
-
-
1Loss-
MYL1-
-
-
-
1Loss-
MYL10-
-
-
-
1Loss-
MYL3-
-
-
-
1Loss-
MYL6-
-
-
-
1Loss-
MYL6B-
-
-
-
1Loss-
MYL7-
-
-
-
1Loss-
MYLK3-
-
-
-
1Loss-
MYLK4-
-
-
-
5Amp-
MYLPF-
-
-
-
3Gain-
MYO10-
-
-
-
3Gain-
MYO15A-
-
-
-
1Loss-
MYO1A-
-
-
-
1Loss-
MYO1C-
-
-
-
1Loss-
MYO1E-
-
-
-
1Loss-
MYO1F-
-
-
-
3Gain-
MYO1G-
-
-
-
1Loss-
MYO3A-
-
-
-
3Gain-
MYO5A-
-
-
-
1Loss-
MYO5B-
-
-
-
1Loss-
MYO5C-
-
-
-
1Loss-
MYO6-
-
-
-
3Gain-
MYO7B-
-
-
-
3Gain-
MYO9A-
-
-
-
1Loss-
MYO9B-
-
-
-
1Loss-
MYOCD-
-
-
-
1Loss-
MYOD1-
-
-
-
1Loss-
MYOF-
-
-
-
1Loss-
MYOM2-
-
-
-
0Del-
MYOM3-
-
-
-
1Loss-
MYOT-
-
-
-
1Loss-
MYOZ1-
-
-
-
1Loss-
MYOZ3-
-
-
-
1Loss-
MYPN-
-
-
-
1Loss-
MYPOP-
-
-
-
1Loss-
MYRFL-
-
-
-
1Loss-
MYRIP-
-
-
-
1Loss-
MYT1-
-
-
-
3Gain-
MYZAP-
-
-
-
1Loss-
MZB1-
-
-
-
1Loss-
MZF1-
-
-
-
3Gain-
MZT2A-
-
-
-
3Gain-
MZT2B-
-
-
-
3Gain-
N4BP1-
-
-
-
1Loss-
N4BP2-
-
-
-
3Gain-
N4BP2L1-
-
-
-
0Del-
N4BP2L2-
-
-
-
0Del-
NAA11-
-
-
-
1Loss-
NAA16-
-
-
-
1Loss-
NAA20-
-
-
-
1Loss-
NAA35-
-
-
-
3Gain-
NAA38-
-
-
-
1Loss-
NAA60-
-
-
-
1Loss-
NAA80-
-
-
-
1Loss-
NAAA-
-
-
-
1Loss-
NAB2-
-
-
-
1Loss-
NABP2-
-
-
-
1Loss-
NACA-
-
-
-
1Loss-
NACAD-
-
-
-
1Loss-
NACC1-
-
-
-
3Gain-
NAE1-
-
-
-
1Loss-
NAGPA-
-
-
-
1Loss-
NAIP-
-
-
-
1Loss-
NAMPT-
-
-
-
1Loss-
NANOG-
-
-
-
3Gain-
NANOGNB-
-
-
-
3Gain-
NANOGP8-
-
-
-
1Loss-
NANOS1-
-
-
-
1Loss-
NANOS2-
-
-
-
1Loss-
NANP-
-
-
-
1Loss-
NANS-
-
-
-
3Gain-
NAP1L1-
-
-
-
1Loss-
NAP1L4-
-
-
-
1Loss-
NAP1L5-
-
-
-
1Loss-
NAPB-
-
-
-
1Loss-
NAPEPLD-
-
-
-
1Loss-
NARS-
-
-
-
1Loss-
NAT1-
-
-
-
1Loss-
NAT16-
-
-
-
1Loss-
NAT2-
-
-
-
1Loss-
NATD1-
-
-
-
1Loss-
NAV2-
-
-
-
1Loss-
NAV3-
-
-
-
1Loss-
NAXE-
-
-
-
3Gain-
NBEA-
-
-
-
1Loss-
NBEAL1-
-
-
-
1Loss-
NBEAL2-
-
-
-
1Loss-
NBL1-
-
-
-
1Loss-
NBPF1-
-
-
-
1Loss-
NBPF3-
-
-
-
1Loss-
NCAN-
-
-
-
1Loss-
NCAPD2-
-
-
-
3Gain-
NCAPG-
-
-
-
3Gain-
NCBP1-
-
-
-
3Gain-
NCBP3-
-
-
-
1Loss-
NCCRP1-
-
-
-
1Loss-
NCKAP1L-
-
-
-
1Loss-
NCKAP5-
-
-
-
3Gain-
NCKAP5L-
-
-
-
1Loss-
NCKIPSD-
-
-
-
1Loss-
NCL-
-
-
-
1Loss-
NCLN-
-
-
-
1Loss-
NCMAP-
-
-
-
1Loss-
NCOA7-
-
-
-
1Loss-
NCOR1-
-
-
-
1Loss-
NCR1-
-
-
-
3Gain-
NCR3LG1-
-
-
-
1Loss-
NCSTN-
-
-
-
3Gain-
NDE1-
-
-
-
3Gain-
NDEL1-
-
-
-
1Loss-
NDFIP1-
-
-
-
1Loss-
NDN-
-
-
-
3Gain-
NDRG4-
-
-
-
1Loss-
NDST1-
-
-
-
1Loss-
NDST2-
-
-
-
1Loss-
NDUFA10-
-
-
-
1Loss-
NDUFA11-
-
-
-
1Loss-
NDUFA12-
-
-
-
1Loss-
NDUFA13-
-
-
-
1Loss-
NDUFA2-
-
-
-
1Loss-
NDUFA3-
-
-
-
3Gain-
NDUFA4-
-
-
-
3Gain-
NDUFA4L2-
-
-
-
1Loss-
NDUFA5-
-
-
-
1Loss-
NDUFA7-
-
-
-
3Gain-
NDUFA9-
-
-
-
3Gain-
NDUFAB1-
-
-
-
3Gain-
NDUFAF1-
-
-
-
1Loss-
NDUFAF2-
-
-
-
1Loss-
NDUFAF3-
-
-
-
1Loss-
NDUFAF4-
-
-
-
1Loss-
NDUFAF5-
-
-
-
1Loss-
NDUFB10-
-
-
-
1Loss-
NDUFB7-
-
-
-
1Loss-
NDUFB8-
-
-
-
1Loss-
NDUFS1-
-
-
-
1Loss-
NDUFS6-
-
-
-
1Loss-
NDUFS7-
-
-
-
1Loss-
NEB-
-
-
-
1Loss-
NEBL-
-
-
-
5Amp-
NECAB2-
-
-
-
1Loss-
NECAP1-
-
-
-
3Gain-
NECAP2-
-
-
-
1Loss-
NECTIN2-
-
-
-
1Loss-
NEDD1-
-
-
-
1Loss-
NEDD4-
-
-
-
1Loss-
NEDD4L-
-
-
-
1Loss-
NEDD9-
-
-
-
3Gain-
NEFL-
-
-
-
1Loss-
NEFM-
-
-
-
1Loss-
NEIL1-
-
-
-
1Loss-
NEIL2-
-
-
-
1Loss-
NEIL3-
-
-
-
1Loss-
NEK1-
-
-
-
1Loss-
NEK3-
-
-
-
1Loss-
NEK4-
-
-
-
1Loss-
NEK5-
-
-
-
1Loss-
NELL1-
-
-
-
1Loss-
NELL2-
-
-
-
1Loss-
NEMF-
-
-
-
2-NEMF--DDX1
NEMP1-
-
-
-
1Loss-
NEO1-
-
-
-
1Loss-
NES-
-
-
-
3Gain-
NET1-
-
-
-
5Amp-
NETO1-
-
-
-
1Loss-
NETO2-
-
-
-
1Loss-
NEU2-
-
-
-
1Loss-
NEU4-
-
-
-
1Loss-
NEURL1-
-
-
-
1Loss-
NEURL1B-
-
-
-
1Loss-
NEURL4-
-
-
-
1Loss-
NEUROD4-
-
-
-
1Loss-
NEUROD6-
-
-
-
1Loss-
NEUROG1-
-
-
-
1Loss-
NEUROG3-
-
-
-
1Loss-
NFAT5-
-
-
-
1Loss-
NFATC1-
-
-
-
1Loss-
NFATC2IP-
-
-
-
3Gain-
NFATC3-
-
-
-
1Loss-
NFE2-
-
-
-
1Loss-
NFE2L3-
-
-
-
1Loss-
NFE4-
-
-
-
1Loss-
NFIB-
-
-
-
1Loss-
NFIC-
-
-
-
1Loss-
NFIL3-
-
-
-
3Gain-
NFIX-
-
-
-
3Gain-
NFKB2-
-
-
-
1Loss-
NFKBIB-
-
-
-
1Loss-
NFKBID-
-
-
-
1Loss-
NFXL1-
-
-
-
1Loss-
NFYB-
-
-
-
1Loss-
NGEF-
-
-
-
1Loss-
NGRN-
-
-
-
1Loss-
NHEJ1-
-
-
-
1Loss-
NHLH1-
-
-
-
3Gain-
NHLRC2-
-
-
-
1Loss-
NHLRC3-
-
-
-
1Loss-
NHLRC4-
-
-
-
1Loss-
NICN1-
-
-
-
1Loss-
NIFK-
-
-
-
3Gain-
NINJ1-
-
-
-
3Gain-
NINJ2-
-
-
-
3Gain-
NINL-
-
-
-
1Loss-
NIP7-
-
-
-
1Loss-
NIPA1-
-
-
-
3Gain-
NIPA2-
-
-
-
3Gain-
NIPAL1-
-
-
-
1Loss-
NIPAL3-
-
-
-
1Loss-
NIPAL4-
-
-
-
1Loss-
NIPSNAP3A-
-
-
-
3Gain-
NIPSNAP3B-
-
-
-
3Gain-
NISCH-
-
-
-
1Loss-
NKAIN2-
-
-
-
1Loss-
NKAIN4-
-
-
-
3Gain-
NKD1-
-
-
-
1Loss-
NKD2-
-
-
-
1Loss-
NKPD1-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NKX1-2-
-
-
-
1Loss-
NKX2-2-
-
-
-
1Loss-
NKX2-3-
-
-
-
1Loss-
NKX2-4-
-
-
-
1Loss-
NKX2-5-
-
-
-
1Loss-
NKX2-6-
-
-
-
1Loss-
NKX3-1-
-
-
-
1Loss-
NKX3-2-
-
-
-
3Gain-
NKX6-1-
-
-
-
1Loss-
NKX6-2-
-
-
-
1Loss-
NLGN2-
-
-
-
1Loss-
NLN-
-
-
-
1Loss-
NLRC3-
-
-
-
1Loss-
NLRC5-
-
-
-
1Loss-
NLRP1-
-
-
-
1Loss-
NLRP10-
-
-
-
1Loss-
NLRP12-
-
-
-
3Gain-
NLRP14-
-
-
-
1Loss-
NLRP2p.K190N
Missense
SNP
0.474
2--
NLRP6-
-
-
-
1Loss-
NLRP7-
-
-
-
3Gain-
NMB-
-
-
-
1Loss-
NME3-
-
-
-
1Loss-
NME4-
-
-
-
1Loss-
NME5-
-
-
-
1Loss-
NME6-
-
-
-
1Loss-
NME8-
-
-
-
1Loss-
NMI-
-
-
-
1Loss-
NMNAT1-
-
-
-
1Loss-
NMRAL1-
-
-
-
1Loss-
NMRK1-
-
-
-
3Gain-
NMRK2-
-
-
-
1Loss-
NMT2-
-
-
-
5Amp-
NMU-
-
-
-
3Gain-
NMUR1-
-
-
-
1Loss-
NMUR2-
-
-
-
1Loss-
NOA1-
-
-
-
3Gain-
NOB1-
-
-
-
1Loss-
NOC3L-
-
-
-
1Loss-
NOD1-
-
-
-
1Loss-
NOD2-
-
-
-
1Loss-
NODAL-
-
-
-
1Loss-
NOL3-
-
-
-
1Loss-
NOL4-
-
-
-
1Loss-
NOL7-
-
-
-
3Gain-
NOL8-
-
-
-
3Gain-
NOLC1-
-
-
-
1Loss-
NOMO1-
-
-
-
3Gain-
NOMO2-
-
-
-
3Gain-
NOMO3-
-
-
-
3Gain-
NOP10-
-
-
-
1Loss-
NOP14-
-
-
-
1Loss-
NOP2-
-
-
-
3Gain-
NOP56-
-
-
-
1Loss-
NOP58-
-
-
-
1Loss-
NOTCH3-
-
-
-
1Loss-
NOVA2-
-
-
-
1Loss-
NOX5-
-
-
-
1Loss-
NOXO1-
-
-
-
1Loss-
NPAP1-
-
-
-
1Loss-
NPBWR2-
-
-
-
3Gain-
NPC1-
-
-
-
7Amp-
NPC1L1-
-
-
-
1Loss-
NPFF-
-
-
-
1Loss-
NPFFR1-
-
-
-
1Loss-
NPFFR2-
-
-
-
1Loss-
NPHS1-
-
-
-
1Loss-
NPHS2-
-
-
-
1Loss-
NPIPB11-
-
-
-
3Gain-
NPIPB12-
-
-
-
3Gain-
NPIPB13-
-
-
-
3Gain-
NPIPB15-
-
-
-
1Loss-
NPIPB2-
-
-
-
3Gain-
NPIPB3-
-
-
-
3Gain-
NPIPB4-
-
-
-
3Gain-
NPIPB5-
-
-
-
3Gain-
NPM1-
-
-
-
1Loss-
NPM2-
-
-
-
1Loss-
NPM3-
-
-
-
1Loss-
NPPA-
-
-
-
1Loss-
NPPB-
-
-
-
1Loss-
NPPC-
-
-
-
1Loss-
NPR1-
-
-
-
3Gain-
NPR3-
-
-
-
1Loss-
NPRL2-
-
-
-
1Loss-
NPRL3-
-
-
-
1Loss-
NPS-
-
-
-
1Loss-
NPSR1-
-
-
-
1Loss-
NPTN-
-
-
-
1Loss-
NPTX2-
-
-
-
1Loss-
NPVF-
-
-
-
1Loss-
NPW-
-
-
-
1Loss-
NPY-
-
-
-
1Loss-
NPY4R-
-
-
-
1Loss-
NPY4R2-
-
-
-
1Loss-
NQO1-
-
-
-
1Loss-
NQO2-
-
-
-
5Amp-
NR0B2-
-
-
-
1Loss-
NR1H4-
-
-
-
1Loss-
NR2C1-
-
-
-
1Loss-
NR2C2AP-
-
-
-
1Loss-
NR2E1-
-
-
-
1Loss-
NR2E3-
-
-
-
1Loss-
NR2F1-
-
-
-
1Loss-
NR2F2-
-
-
-
1Loss-
NR2F6-
-
-
-
1Loss-
NR3C1-
-
-
-
1Loss-
NR4A1-
-
-
-
1Loss-
NR4A2-
-
-
-
1Loss-
NR4A3-
-
-
-
3Gain-
NRAP-
-
-
-
1Loss-
NRBF2-
-
-
-
1Loss-
NRCAM-
-
-
-
1Loss-
NREP-
-
-
-
1Loss-
NRF1-
-
-
-
1Loss-
NRG2-
-
-
-
1Loss-
NRG3-
-
-
-
1Loss-
NRG4-
-
-
-
1Loss-
NRIP2-
-
-
-
3Gain-
NRIP3-
-
-
-
1Loss-
NRN1-
-
-
-
3Gain-
NRN1L-
-
-
-
1Loss-
NRP2-
-
-
-
1Loss-
NRSN1-
-
-
-
7Amp-
NRSN2-
-
-
-
1Loss-
NRTN-
-
-
-
1Loss-
NSA2-
-
-
-
1Loss-
NSFL1C-
-
-
-
1Loss-
NSG1-
-
-
-
1Loss-
NSMCE1-
-
-
-
3Gain-
NSMCE3-
-
-
-
1Loss-
NSMCE4A-
-
-
-
1Loss-
NSUN2-
-
-
-
1Loss-
NSUN6-
-
-
-
5Amp-
NSUN7-
-
-
-
1Loss-
NT5C2-
-
-
-
1Loss-
NT5C3A-
-
-
-
1Loss-
NT5DC1-
-
-
-
1Loss-
NT5DC2-
-
-
-
1Loss-
NT5DC3-
-
-
-
1Loss-
NT5E-
-
-
-
1Loss-
NT5M-
-
-
-
1Loss-
NTAN1-
-
-
-
3Gain-
NTF3-
-
-
-
3Gain-
NTHL1-
-
-
-
1Loss-
NTN1-
-
-
-
1Loss-
NTN3-
-
-
-
1Loss-
NTN4-
-
-
-
1Loss-
NTRK1-
-
-
-
3Gain-
NTRK2-
-
-
-
3Gain-
NTRK3-
-
-
-
1Loss-
NTS-
-
-
-
1Loss-
NTSR1-
-
-
-
3Gain-
NUAK1-
-
-
-
1Loss-
NUBP1-
-
-
-
3Gain-
NUBP2-
-
-
-
1Loss-
NUCB2-
-
-
-
1Loss-
NUDC-
-
-
-
1Loss-
NUDCD2-
-
-
-
1Loss-
NUDCD3-
-
-
-
1Loss-
NUDT12-
-
-
-
1Loss-
NUDT13-
-
-
-
1Loss-
NUDT15-
-
-
-
1Loss-
NUDT16L1-
-
-
-
1Loss-
NUDT18-
-
-
-
1Loss-
NUDT19-
-
-
-
1Loss-
NUDT21-
-
-
-
1Loss-
NUDT4-
-
-
-
1Loss-
NUDT5-
-
-
-
5Amp-
NUDT7-
-
-
-
1Loss-
NUDT9-
-
-
-
1Loss-
NUFIP1-
-
-
-
1Loss-
NUMBL-
-
-
-
1Loss-
NUP107-
-
-
-
1Loss-
NUP205-
-
-
-
1Loss-
NUP210L-
-
-
-
3Gain-
NUP37-
-
-
-
1Loss-
NUP54-
-
-
-
1Loss-
NUP58-
-
-
-
1Loss-
NUP88-
-
-
-
1Loss-
NUP93-
-
-
-
1Loss-
NUP98-
-
-
-
1Loss-
NUPL2-
-
-
-
1Loss-
NUPR1-
-
-
-
3Gain-
NUS1-
-
-
-
1Loss-
NUSAP1-
-
-
-
1Loss-
NUTF2-
-
-
-
1Loss-
NUTM1-
-
-
-
1Loss-
NUTM2F-
-
-
-
3Gain-
NUTM2G-
-
-
-
3Gain-
NWD1-
-
-
-
1Loss-
NWD2-
-
-
-
3Gain-
NXN-
-
-
-
1Loss-
NXNL1-
-
-
-
1Loss-
NXNL2-
-
-
-
3Gain-
NXPH1-
-
-
-
3Gain-
NXPH2-
-
-
-
1Loss-
NXPH4-
-
-
-
1Loss-
NXT1-
-
-
-
1Loss-
NYAP1-
-
-
-
1Loss-
NYAP2-
-
-
-
1Loss-
OAT-
-
-
-
1Loss-
OAZ1-
-
-
-
1Loss-
OAZ2-
-
-
-
1Loss-
OAZ3-
-
-
-
3Gain-
OBSL1-
-
-
-
1Loss-
OCA2-
-
-
-
1Loss-
OCEL1-
-
-
-
1Loss-
OCIAD1-
-
-
-
3Gain-
OCIAD2-
-
-
-
3Gain-
OCLN-
-
-
-
1Loss-
ODAM-
-
-
-
1Loss-
ODAPH-
-
-
-
1Loss-
ODF3-
-
-
-
1Loss-
ODF3L1-
-
-
-
1Loss-
ODF3L2-
-
-
-
1Loss-
ODF4-
-
-
-
1Loss-
OGA-
-
-
-
1Loss-
OGDH-
-
-
-
1Loss-
OGDHL-
-
-
-
1Loss-
OGFOD1-
-
-
-
1Loss-
OGFR-
-
-
-
3Gain-
OGFRL1-
-
-
-
3Gain-
OGN-
-
-
-
3Gain-
OIP5-
-
-
-
1Loss-
OIT3-
-
-
-
1Loss-
OLAH-
-
-
-
5Amp-
OLFM2-
-
-
-
3Gain-
OLFML1-
-
-
-
1Loss-
OMD-
-
-
-
3Gain-
ONECUT1-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
ONECUT3-
-
-
-
1Loss-
OOEP-
-
-
-
3Gain-
OPA3-
-
-
-
1Loss-
OPALIN-
-
-
-
1Loss-
OPN1SW-
-
-
-
1Loss-
OPN4-
-
-
-
1Loss-
OPN5-
-
-
-
1Loss-
OPRL1-
-
-
-
3Gain-
OPRPN-
-
-
-
1Loss-
OPTN-
-
-
-
5Amp-
OR10A2-
-
-
-
1Loss-
OR10A3-
-
-
-
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
-
-
-
1Loss-
OR10A6-
-
-
-
1Loss-
OR10A7-
-
-
-
1Loss-
OR10AD1-
-
-
-
1Loss-
OR10H1-
-
-
-
1Loss-
OR10H2-
-
-
-
1Loss-
OR10H3-
-
-
-
1Loss-
OR10H4-
-
-
-
1Loss-
OR10H5-
-
-
-
1Loss-
OR10J1-
-
-
-
3Gain-
OR10J3-
-
-
-
3Gain-
OR10J5-
-
-
-
3Gain-
OR10K1-
-
-
-
3Gain-
OR10K2-
-
-
-
3Gain-
OR10P1-
-
-
-
1Loss-
OR10R2-
-
-
-
3Gain-
OR10T2-
-
-
-
3Gain-
OR10X1-
-
-
-
3Gain-
OR10Z1-
-
-
-
3Gain-
OR13C2-
-
-
-
3Gain-
OR13C3-
-
-
-
3Gain-
OR13C4-
-
-
-
3Gain-
OR13C5-
-
-
-
3Gain-
OR13C8-
-
-
-
3Gain-
OR13C9-
-
-
-
3Gain-
OR13D1p.W181*
Nonsense
SNP
0.618
3Gain-
OR13F1-
-
-
-
3Gain-
OR1A1-
-
-
-
1Loss-
OR1A2-
-
-
-
1Loss-
OR1D2-
-
-
-
1Loss-
OR1D5-
-
-
-
1Loss-
OR1E1-
-
-
-
1Loss-
OR1E2-
-
-
-
1Loss-
OR1F1-
-
-
-
1Loss-
OR1G1-
-
-
-
1Loss-
OR1I1-
-
-
-
1Loss-
OR1M1-
-
-
-
3Gain-
OR1N1p.P127T
Missense
SNP
0.506
2--
OR2AE1-
-
-
-
1Loss-
OR2AG1-
-
-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2AP1-
-
-
-
1Loss-
OR2C1-
-
-
-
1Loss-
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2K2-
-
-
-
3Gain-
OR2Z1-
-
-
-
3Gain-
OR3A1-
-
-
-
1Loss-
OR3A2-
-
-
-
1Loss-
OR3A3-
-
-
-
1Loss-
OR4F15-
-
-
-
1Loss-
OR4F17-
-
-
-
1Loss-
OR4F4-
-
-
-
1Loss-
OR4F6-
-
-
-
1Loss-
OR4M2-
-
-
-
3Gain-
OR4Q3-
-
-
-
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-
OR5BS1P-
-
-
-
1Loss-
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
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-
OR6K2-
-
-
-
3Gain-
OR6K3-
-
-
-
3Gain-
OR6K6-
-
-
-
3Gain-
OR6N1-
-
-
-
3Gain-
OR6N2-
-
-
-
3Gain-
OR6P1-
-
-
-
3Gain-
OR6Y1-
-
-
-
3Gain-
OR7A10-
-
-
-
1Loss-
OR7A17-
-
-
-
1Loss-
OR7A5-
-
-
-
1Loss-
OR7C1-
-
-
-
1Loss-
OR7C2-
-
-
-
1Loss-
OR7D2-
-
-
-
3Gain-
OR7D4-
-
-
-
3Gain-
OR7E24-
-
-
-
3Gain-
OR7E47P-
-
-
-
1Loss-
OR7G1-
-
-
-
3Gain-
OR7G2-
-
-
-
3Gain-
OR7G3-
-
-
-
3Gain-
OR8S1-
-
-
-
1Loss-
OR9K2-
-
-
-
1Loss-
ORAI2-
-
-
-
1Loss-
ORAI3-
-
-
-
3Gain-
ORC3-
-
-
-
1Loss-
ORC4-
-
-
-
1Loss-
ORC5-
-
-
-
1Loss-
ORC6-
-
-
-
1Loss-
ORM1-
-
-
-
3Gain-
ORM2-
-
-
-
3Gain-
ORMDL2-
-
-
-
1Loss-
OS9-
-
-
-
1Loss-
OSBPL1A-
-
-
-
9Amp-
OSBPL2-
-
-
-
3Gain-
OSBPL3-
-
-
-
1Loss-
OSBPL5-
-
-
-
1Loss-
OSBPL8-
-
-
-
1Loss-
OSCAR-
-
-
-
3Gain-
OSGIN1-
-
-
-
1Loss-
OSTF1-
-
-
-
3Gain-
OSTM1-
-
-
-
1Loss-
OTOA-
-
-
-
3Gain-
OTOG-
-
-
-
1Loss-
OTOGL-
-
-
-
1Loss-
OTOP1-
-
-
-
1Loss-
OTOR-
-
-
-
1Loss-
OTOS-
-
-
-
1Loss-
OTP-
-
-
-
1Loss-
OTUD1-
-
-
-
5Amp-
OTUD3-
-
-
-
1Loss-
OTUD7A-
-
-
-
1Loss-
OTUD7B-
-
-
-
3Gain-
OTULIN-
-
-
-
3Gain-
OTULINL-
-
-
-
3Gain-
OVCA2-
-
-
-
1Loss-
OVCH2-
-
-
-
1Loss-
OVOL2-
-
-
-
1Loss-
OVOL3-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
OXT-
-
-
-
1Loss-
P2RX1-
-
-
-
1Loss-
P2RX5-
-
-
-
1Loss-
P2RX5-TAX1BP3-
-
-
-
1Loss-
P2RY11-
-
-
-
3Gain-
P3H3-
-
-
-
3Gain-
P4HA1-
-
-
-
1Loss-
P4HA2-
-
-
-
1Loss-
P4HTM-
-
-
-
1Loss-
PA2G4-
-
-
-
1Loss-
PABPC3-
-
-
-
1Loss-
PABPN1L-
-
-
-
1Loss-
PACRGL-
-
-
-
3Gain-
PADI1-
-
-
-
1Loss-
PADI2-
-
-
-
1Loss-
PADI3-
-
-
-
1Loss-
PADI4-
-
-
-
1Loss-
PADI6-
-
-
-
1Loss-
PAF1-
-
-
-
1Loss-
PAFAH1B1-
-
-
-
1Loss-
PAFAH1B3-
-
-
-
1Loss-
PAFAH2-
-
-
-
1Loss-
PAGR1-
-
-
-
3Gain-
PAH-
-
-
-
1Loss-
PAICS-
-
-
-
3Gain-
PAIP2-
-
-
-
1Loss-
PAK1IP1-
-
-
-
3Gain-
PAK4-
-
-
-
1Loss-
PAK5-
-
-
-
1Loss-
PAK6-
-
-
-
1Loss-
PALB2-
-
-
-
3Gain-
PALD1-
-
-
-
1Loss-
PALLD-
-
-
-
1Loss-
PALM-
-
-
-
1Loss-
PALM2-
-
-
-
3Gain-
PALM2-AKAP2-
-
-
-
3Gain-
PALM3-
-
-
-
1Loss-
PAM-
-
-
-
1Loss-
PAM16-
-
-
-
1Loss-
PAN2-
-
-
-
1Loss-
PAN3-
-
-
-
1Loss-
PANK1-
-
-
-
1Loss-
PANK2-
-
-
-
1Loss-
PANK3-
-
-
-
1Loss-
PAOX-
-
-
-
1Loss-
PAPPA2-
-
-
-
1Loss-
PAPSS2-
-
-
-
1Loss-
PAQR3-
-
-
-
1Loss-
PAQR4-
-
-
-
1Loss-
PAQR5-
-
-
-
1Loss-
PAQR6-
-
-
-
3Gain-
PAQR7-
-
-
-
1Loss-
PAQR8-
-
-
-
1Loss-
PARD3B-
-
-
-
1Loss-
PARD6A-
-
-
-
1Loss-
PARD6G-
-
-
-
1Loss-
PARG-
-
-
-
1Loss-
PARM1-
-
-
-
1Loss-
PARN-
-
-
-
3Gain-
PARP11-
-
-
-
3Gain-
PARP16-
-
-
-
1Loss-
PARP3-
-
-
-
1Loss-
PARP4-
-
-
-
1Loss-
PARP6-
-
-
-
1Loss-
PARP8-
-
-
-
1Loss-
PARPBP-
-
-
-
1Loss-
PARVA-
-
-
-
1Loss-
PASK-
-
-
-
1Loss-
PATL2-
-
-
-
1Loss-
PAWR-
-
-
-
1Loss-
PAX1-
-
-
-
1Loss-
PAX2-
-
-
-
1Loss-
PAX3-
-
-
-
1Loss-
PAX4-
-
-
-
1Loss-
PAX7-
-
-
-
1Loss-
PBLD-
-
-
-
1Loss-
PBRM1-
-
-
-
1Loss-
PBX4-
-
-
-
1Loss-
PBXIP1-
-
-
-
3Gain-
PCBD1-
-
-
-
1Loss-
PCBD2-
-
-
-
1Loss-
PCBP2-
-
-
-
1Loss-
PCBP4-
-
-
-
1Loss-
PCDH1-
-
-
-
1Loss-
PCDH12-
-
-
-
1Loss-
PCDH15-
-
-
-
1Loss-
PCDH7-
-
-
-
1Loss-
PCDHA1-
-
-
-
1Loss-
PCDHA10-
-
-
-
1Loss-
PCDHA11-
-
-
-
1Loss-
PCDHA12-
-
-
-
1Loss-
PCDHA13-
-
-
-
1Loss-
PCDHA2-
-
-
-
1Loss-
PCDHA3-
-
-
-
1Loss-
PCDHA4-
-
-
-
1Loss-
PCDHA5-
-
-
-
1Loss-
PCDHA6-
-
-
-
1Loss-
PCDHA7-
-
-
-
1Loss-
PCDHA8-
-
-
-
1Loss-
PCDHA9-
-
-
-
1Loss-
PCDHAC1-
-
-
-
1Loss-
PCDHAC2-
-
-
-
1Loss-
PCDHB1-
-
-
-
1Loss-
PCDHB10-
-
-
-
1Loss-
PCDHB11-
-
-
-
1Loss-
PCDHB12-
-
-
-
1Loss-
PCDHB13-
-
-
-
1Loss-
PCDHB14-
-
-
-
1Loss-
PCDHB15-
-
-
-
1Loss-
PCDHB16-
-
-
-
1Loss-
PCDHB2-
-
-
-
1Loss-
PCDHB3-
-
-
-
1Loss-
PCDHB4-
-
-
-
1Loss-
PCDHB5-
-
-
-
1Loss-
PCDHB6-
-
-
-
1Loss-
PCDHB7-
-
-
-
1Loss-
PCDHB8-
-
-
-
1Loss-
PCDHB9-
-
-
-
1Loss-
PCDHGA1-
-
-
-
1Loss-
PCDHGA10-
-
-
-
1Loss-
PCDHGA11-
-
-
-
1Loss-
PCDHGA12-
-
-
-
1Loss-
PCDHGA2-
-
-
-
1Loss-
PCDHGA3-
-
-
-
1Loss-
PCDHGA4-
-
-
-
1Loss-
PCDHGA5-
-
-
-
1Loss-
PCDHGA6-
-
-
-
1Loss-
PCDHGA7-
-
-
-
1Loss-
PCDHGA8-
-
-
-
1Loss-
PCDHGA9-
-
-
-
1Loss-
PCDHGB1-
-
-
-
1Loss-
PCDHGB2-
-
-
-
1Loss-
PCDHGB3-
-
-
-
1Loss-
PCDHGB4-
-
-
-
1Loss-
PCDHGB5-
-
-
-
1Loss-
PCDHGB6-
-
-
-
1Loss-
PCDHGB7-
-
-
-
1Loss-
PCDHGC3-
-
-
-
1Loss-
PCDHGC4-
-
-
-
1Loss-
PCDHGC5-
-
-
-
1Loss-
PCED1A-
-
-
-
1Loss-
PCED1B-
-
-
-
1Loss-
PCGF5-
-
-
-
1Loss-
PCGF6-
-
-
-
1Loss-
PCLAF-
-
-
-
1Loss-
PCM1-
-
-
-
1Loss-
PCMTD2-
-
-
-
3Gain-
PCNA-
-
-
-
1Loss-
PCOLCE-
-
-
-
1Loss-
PCP2-
-
-
-
3Gain-
PCSK1-
-
-
-
1Loss-
PCSK2-
-
-
-
1Loss-
PCSK4-
-
-
-
1Loss-
PCSK5-
-
-
-
3Gain-
PCSK6-
-
-
-
1Loss-
PCYOX1L-
-
-
-
1Loss-
PDAP1-
-
-
-
1Loss-
PDCD1-
-
-
-
1Loss-
PDCD11-
-
-
-
1Loss-
PDCD2L-
-
-
-
1Loss-
PDCD4-
-
-
-
1Loss-
PDCD5-
-
-
-
1Loss-
PDCD6-
-
-
-
1Loss-
PDCD7-
-
-
-
1Loss-
PDCL2-
-
-
-
3Gain-
PDE12-
-
-
-
1Loss-
PDE1B-
-
-
-
1Loss-
PDE1C-
-
-
-
1Loss-
PDE3B-
-
-
-
1Loss-
PDE4A-
-
-
-
3Gain-
PDE4C-
-
-
-
1Loss-
PDE4D-
-
-
-
1Loss-
PDE6A-
-
-
-
1Loss-
PDE6C-
-
-
-
1Loss-
PDE6D-
-
-
-
1Loss-
PDE8A-
-
-
-
1Loss-
PDE8B-
-
-
-
1Loss-
PDF-
-
-
-
1Loss-
PDGFRA-
-
-
-
3Gain-
PDGFRB-
-
-
-
1Loss-
PDGFRL-
-
-
-
1Loss-
PDHB-
-
-
-
1Loss-
PDIA2-
-
-
-
1Loss-
PDIA3-
-
-
-
1Loss-
PDIK1L-
-
-
-
1Loss-
PDILT-
-
-
-
3Gain-
PDLIM1-
-
-
-
1Loss-
PDLIM2-
-
-
-
1Loss-
PDLIM3-
-
-
-
1Loss-
PDLIM4-
-
-
-
1Loss-
PDP2-
-
-
-
1Loss-
PDPK1-
-
-
-
1Loss-
PDPN-
-
-
-
1Loss-
PDPR-
-
-
-
1Loss-
PDS5A-
-
-
-
3Gain-
PDS5B-
-
-
-
0Del-
PDSS2-
-
-
-
1Loss-
PDX1-
-
-
-
1Loss-
PDXDC1-
-
-
-
3Gain-
PDYN-
-
-
-
1Loss-
PDZD2-
-
-
-
1Loss-
PDZD7-
-
-
-
1Loss-
PDZD8-
-
-
-
1Loss-
PDZD9-
-
-
-
3Gain-
PDZRN3-
-
-
-
1Loss-
PDZRN4-
-
-
-
1Loss-
PEA15-
-
-
-
3Gain-
PEAK1-
-
-
-
1Loss-
PEAK3-
-
-
-
1Loss-
PEAR1-
-
-
-
3Gain-
PEBP4-
-
-
-
1Loss-
PECR-
-
-
-
1Loss-
PELO-
-
-
-
1Loss-
PELP1-
-
-
-
1Loss-
PEMT-
-
-
-
1Loss-
PEPD-
-
-
-
1Loss-
PER1-
-
-
-
1Loss-
PER2-
-
-
-
1Loss-
PET100-
-
-
-
3Gain-
PET117-
-
-
-
1Loss-
PEX11A-
-
-
-
1Loss-
PEX11G-
-
-
-
3Gain-
PEX14-
-
-
-
1Loss-
PEX19-
-
-
-
3Gain-
PEX26-
-
-
-
1Loss-
PEX5-
-
-
-
3Gain-
PF4-
-
-
-
1Loss-
PF4V1-
-
-
-
1Loss-
PFAS-
-
-
-
1Loss-
PFDN1-
-
-
-
1Loss-
PFDN5-
-
-
-
1Loss-
PFKFB3-
-
-
-
5Amp-
PFKFB4-
-
-
-
1Loss-
PFKM-
-
-
-
1Loss-
PFKP-
-
-
-
5Amp-
PFN1-
-
-
-
1Loss-
PGAM1-
-
-
-
1Loss-
PGAM2-
-
-
-
1Loss-
PGAP2-
-
-
-
1Loss-
PGBD4-
-
-
-
1Loss-
PGD-
-
-
-
1Loss-
PGGHG-
-
-
-
1Loss-
PGGT1B-
-
-
-
1Loss-
PGK2-
-
-
-
1Loss-
PGLS-
-
-
-
1Loss-
PGLYRP1-
-
-
-
1Loss-
PGLYRP2-
-
-
-
1Loss-
PGLYRP3-
-
-
-
3Gain-
PGLYRP4-
-
-
-
3Gain-
PGM2-
-
-
-
3Gain-
PGM3-
-
-
-
1Loss-
PGM5-
-
-
-
3Gain-
PGP-
-
-
-
1Loss-
PGPEP1-
-
-
-
1Loss-
PGPEP1L-
-
-
-
1Loss-
PHACTR1-
-
-
-
3Gain-
PHACTR3p.R396Q
Missense
SNP
0.472
2--
PHAX-
-
-
-
1Loss-
PHB2-
-
-
-
3Gain-
PHC3-
-
-
-
2-PHC3--ARPC2
PHF11-
-
-
-
1Loss-
PHF14-
-
-
-
3Gain-
PHF2-
-
-
-
3Gain-
PHF23-
-
-
-
1Loss-
PHF3-
-
-
-
3Gain-
PHF7-
-
-
-
1Loss-
PHGR1-
-
-
-
1Loss-
PHIP-
-
-
-
1Loss-
PHKB-
-
-
-
1Loss-
PHKG2-
-
-
-
3Gain-
PHLDA1-
-
-
-
1Loss-
PHLDA2-
-
-
-
1Loss-
PHLDB3-
-
-
-
1Loss-
PHLPP1-
-
-
-
1Loss-
PHLPP2-
-
-
-
1Loss-
PHOX2B-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PHYH-
-
-
-
5Amp-
PHYHIP-
-
-
-
1Loss-
PHYHIPL-
-
-
-
1Loss-
PHYKPL-
-
-
-
1Loss-
PI4K2A-
-
-
-
1Loss-
PI4K2B-
-
-
-
1Loss-
PI4KB-
-
-
-
3Gain-
PIANP-
-
-
-
3Gain-
PIAS1-
-
-
-
1Loss-
PIAS2-
-
-
-
1Loss-
PIAS4-
-
-
-
1Loss-
PID1-
-
-
-
1Loss-
PIDD1-
-
-
-
1Loss-
PIEZO1-
-
-
-
1Loss-
PIF1-
-
-
-
1Loss-
PIGB-
-
-
-
1Loss-
PIGL-
-
-
-
1Loss-
PIGM-
-
-
-
3Gain-
PIGN-
-
-
-
1Loss-
PIGQ-
-
-
-
1Loss-
PIGV-
-
-
-
1Loss-
PIGY-
-
-
-
1Loss-
PIK3AP1-
-
-
-
1Loss-
PIK3C2A-
-
-
-
1Loss-
PIK3C3-
-
-
-
1Loss-
PIK3CD-
-
-
-
1Loss-
PIK3CG-
-
-
-
1Loss-
PIK3R1-
-
-
-
1Loss-
PIK3R2-
-
-
-
1Loss-
PIK3R5-
-
-
-
1Loss-
PIK3R6-
-
-
-
1Loss-
PIKFYVE-
-
-
-
1Loss-
PILRA-
-
-
-
1Loss-
PILRB-
-
-
-
1Loss-
PIMREG-
-
-
-
1Loss-
PIN1-
-
-
-
3Gain-
PINK1-
-
-
-
1Loss-
PINLYP-
-
-
-
1Loss-
PINX1-
-
-
-
1Loss-
PIP4K2A-
-
-
-
5Amp-
PIP4K2C-
-
-
-
1Loss-
PIP5K1A-
-
-
-
3Gain-
PIP5K1B-
-
-
-
3Gain-
PIP5K1C-
-
-
-
1Loss-
PIRT-
-
-
-
1Loss-
PITHD1-
-
-
-
1Loss-
PITPNA-
-
-
-
1Loss-
PITPNM3-
-
-
-
1Loss-
PITRM1-
-
-
-
5Amp-
PITX1-
-
-
-
1Loss-
PITX3-
-
-
-
1Loss-
PIWIL2-
-
-
-
1Loss-
PJA2-
-
-
-
1Loss-
PKD1-
-
-
-
1Loss-
PKD1L1-
-
-
-
1Loss-
PKD1L2-
-
-
-
1Loss-
PKD1L3-
-
-
-
1Loss-
PKD2-
-
-
-
1Loss-
PKD2L1-
-
-
-
1Loss-
PKD2L2-
-
-
-
1Loss-
PKHD1-
-
-
-
1Loss-
PKIB-
-
-
-
1Loss-
PKLR-
-
-
-
3Gain-
PKM-
-
-
-
1Loss-
PKMYT1-
-
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1Loss-
PKN1-
-
-
-
1Loss-
PKP3-
-
-
-
1Loss-
PKP4-
-
-
-
1Loss-
PLA2G10-
-
-
-
3Gain-
PLA2G12B-
-
-
-
1Loss-
PLA2G15-
-
-
-
1Loss-
PLA2G2A-
-
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-
1Loss-
PLA2G2C-
-
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1Loss-
PLA2G2D-
-
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-
1Loss-
PLA2G2E-
-
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1Loss-
PLA2G2F-
-
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1Loss-
PLA2G4B-
-
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1Loss-
PLA2G4D-
-
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1Loss-
PLA2G4E-
-
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-
1Loss-
PLA2G4F-
-
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-
1Loss-
PLA2G5-
-
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1Loss-
PLA2G7-
-
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-
1Loss-
PLA2R1-
-
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-
1Loss-
PLAC8-
-
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-
1Loss-
PLAC8L1-
-
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1Loss-
PLAC9-
-
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1Loss-
PLAU-
-
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1Loss-
PLAUR-
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1Loss-
PLCB1-
-
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1Loss-
PLCB2-
-
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1Loss-
PLCB4-
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1Loss-
PLCD1-
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1Loss-
PLCD4-
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1Loss-
PLCE1-
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1Loss-
PLCG2-
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1Loss-
PLD2-
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1Loss-
PLD3-
-
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1Loss-
PLD6-
-
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1Loss-
PLEKHA1-
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1Loss-
PLEKHA7-
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1Loss-
PLEKHA8-
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1Loss-
PLEKHB2-
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3Gain-
PLEKHF1-
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1Loss-
PLEKHG2-
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1Loss-
PLEKHG4-
-
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1Loss-
PLEKHG4B-
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1Loss-
PLEKHG6-
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3Gain-
PLEKHG7-
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1Loss-
PLEKHJ1-
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1Loss-
PLEKHM2-
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1Loss-
PLEKHM3-
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1Loss-
PLEKHO1-
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3Gain-
PLEKHO2-
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1Loss-
PLEKHS1-
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1Loss-
PLIN1-
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1Loss-
PLIN2-
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1Loss-
PLIN3-
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1Loss-
PLIN4-
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1Loss-
PLIN5-
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1Loss-
PLK1-
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3Gain-
PLK2-
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1Loss-
PLK5-
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1Loss-
PLLP-
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1Loss-
PLN-
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1Loss-
PLOD1-
-
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1Loss-
PLOD3-
-
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1Loss-
PLPBP-
-
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2-PLPBP--CMC4
PLPP1-
-
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1Loss-
PLPP2-
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1Loss-
PLPP4-
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1Loss-
PLPPR1-
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3Gain-
PLPPR2-
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3Gain-
PLPPR3-
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1Loss-
PLSCR3-
-
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-
1Loss-
PLVAP-
-
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-
1Loss-
PLXDC2-
-
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-
5Amp-
PLXNA4-
-
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-
1Loss-
PLXNB1-
-
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-
1Loss-
PLXNC1-
-
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-
1Loss-
PM20D2-
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1Loss-
PMAIP1-
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1Loss-
PMCH-
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1Loss-
PMEL-
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1Loss-
PMF1-
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3Gain-
PMF1-BGLAP-
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3Gain-
PMFBP1-
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-
1Loss-
PML-
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-
1Loss-
PMM2-
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3Gain-
PMP22-
-
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-
1Loss-
PMPCB-
-
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1Loss-
PMS2-
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3Gain-
PMVK-
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3Gain-
PNISR-
-
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1Loss-
PNKD-
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-
1Loss-
PNLIP-
-
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1Loss-
PNLIPRP1-
-
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1Loss-
PNLIPRP2-
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-
1Loss-
PNLIPRP3-
-
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1Loss-
PNMA8A-
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-
1Loss-
PNMA8B-
-
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-
1Loss-
PNPLA2-
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-
1Loss-
PNPLA6-
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-
3Gain-
PNPLA8-
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1Loss-
PNRC1-
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1Loss-
PNRC2-
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1Loss-
POC1A-
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1Loss-
POC1B-
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1Loss-
POC1B-GALNT4-
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1Loss-
POC5-
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1Loss-
PODXL-
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-
1Loss-
POGZ-
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3Gain-
POLD2-
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-
1Loss-
POLE3-
-
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3Gain-
POLG-
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-
1Loss-
POLI-
-
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-
1Loss-
POLK-
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-
1Loss-
POLL-
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-
1Loss-
POLM-
-
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-
1Loss-
POLR1D-
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1Loss-
POLR2A-
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1Loss-
POLR2B-
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3Gain-
POLR2C-
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1Loss-
POLR2D-
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3Gain-
POLR2E-
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1Loss-
POLR2I-
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1Loss-
POLR2J-
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-
1Loss-
POLR2J2-
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1Loss-
POLR2J3-
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1Loss-
POLR2L-
-
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1Loss-
POLR2M-
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-
1Loss-
POLR3A-
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1Loss-
POLR3B-
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1Loss-
POLR3D-
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1Loss-
POLR3E-
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3Gain-
POLR3F-
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-
1Loss-
POLR3G-
-
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-
1Loss-
POLR3K-
-
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-
1Loss-
POLRMT-
-
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-
1Loss-
POMGNT2-
-
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-
1Loss-
POMP-
-
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-
1Loss-
POP4-
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-
1Loss-
POP7-
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-
1Loss-
POPDC3-
-
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-
1Loss-
POSTN-
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-
1Loss-
POT1-
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-
1Loss-
POTEB-
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3Gain-
POTEB2-
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3Gain-
POTEB3-
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3Gain-
POTEE-
-
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-
3Gain-
POTEF-
-
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-
3Gain-
POTEG-
-
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-
1Loss-
POTEH-
-
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-
1Loss-
POTEI-
-
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-
3Gain-
POTEJ-
-
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-
3Gain-
POTEM-
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-
1Loss-
POU1F1-
-
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-
1Loss-
POU2F2-
-
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-
1Loss-
POU3F2-
-
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-
1Loss-
POU4F3-
-
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-
1Loss-
POU5F2-
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1Loss-
POU6F1-
-
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-
1Loss-
POU6F2-
-
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-
1Loss-
PPA1-
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-
-
1Loss-
PPAN-
-
-
-
3Gain-
PPAN-P2RY11-
-
-
-
3Gain-
PPARGC1A-
-
-
-
1Loss-
PPARGC1B-
-
-
-
1Loss-
PPAT-
-
-
-
3Gain-
PPBP-
-
-
-
1Loss-
PPCDC-
-
-
-
1Loss-
PPDPF-
-
-
-
3Gain-
PPEF2-
-
-
-
1Loss-
PPFIA2-
-
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-
1Loss-
PPFIBP2-
-
-
-
1Loss-
PPHLN1-
-
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-
1Loss-
PPIA-
-
-
-
1Loss-
PPIB-
-
-
-
1Loss-
PPIC-
-
-
-
1Loss-
PPIF-
-
-
-
1Loss-
PPIL6-
-
-
-
1Loss-
PPIP5K1-
-
-
-
1Loss-
PPIP5K2-
-
-
-
1Loss-
PPL-
-
-
-
1Loss-
PPM1H-
-
-
-
1Loss-
PPM1K-
-
-
-
1Loss-
PPM1M-
-
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-
1Loss-
PPM1N-
-
-
-
1Loss-
PPP1R12A-
-
-
-
1Loss-
PPP1R13L-
-
-
-
1Loss-
PPP1R14A-
-
-
-
1Loss-
PPP1R14D-
-
-
-
1Loss-
PPP1R17-
-
-
-
1Loss-
PPP1R1A-
-
-
-
1Loss-
PPP1R2B-
-
-
-
1Loss-
PPP1R35-
-
-
-
1Loss-
PPP1R37-
-
-
-
1Loss-
PPP1R3A-
-
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-
1Loss-
PPP1R3B-
-
-
-
1Loss-
PPP1R3C-
-
-
-
1Loss-
PPP1R3D-
-
-
-
3Gain-
PPP1R3G-
-
-
-
3Gain-
PPP1R7-
-
-
-
1Loss-
PPP1R8-
-
-
-
1Loss-
PPP2CA-
-
-
-
1Loss-
PPP2R1A-
-
-
-
3Gain-
PPP2R2B-
-
-
-
1Loss-
PPP2R2C-
-
-
-
1Loss-
PPP2R2D-
-
-
-
1Loss-
PPP3CB-
-
-
-
1Loss-
PPP3CC-
-
-
-
1Loss-
PPP3R2-
-
-
-
3Gain-
PPP4C-
-
-
-
3Gain-
PPP4R2-
-
-
-
1Loss-
PPP5C-
-
-
-
1Loss-
PPP5D1-
-
-
-
1Loss-
PPRC1-
-
-
-
1Loss-
PPWD1-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PQLC2-
-
-
-
1Loss-
PRAG1-
-
-
-
1Loss-
PRAM1-
-
-
-
3Gain-
PRAMEF1-
-
-
-
1Loss-
PRAMEF11-
-
-
-
1Loss-
PRAMEF12-
-
-
-
1Loss-
PRAMEF13-
-
-
-
1Loss-
PRAMEF14-
-
-
-
1Loss-
PRAMEF15-
-
-
-
1Loss-
PRAMEF18-
-
-
-
1Loss-
PRAMEF19-
-
-
-
1Loss-
PRAMEF20-
-
-
-
1Loss-
PRAMEF25-
-
-
-
1Loss-
PRAMEF26-
-
-
-
1Loss-
PRAMEF5-
-
-
-
1Loss-
PRAP1-
-
-
-
1Loss-
PRC1-
-
-
-
1Loss-
PRCC-
-
-
-
3Gain-
PRDM1-
-
-
-
1Loss-
PRDM13-
-
-
-
1Loss-
PRDM2-
-
-
-
1Loss-
PRDM4-
-
-
-
1Loss-
PRDM6-
-
-
-
1Loss-
PRDM7-
-
-
-
1Loss-
PRDM8-
-
-
-
1Loss-
PRDX2-
-
-
-
3Gain-
PRDX3-
-
-
-
1Loss-
PRELID2-
-
-
-
1Loss-
PREP-
-
-
-
1Loss-
PRF1-
-
-
-
1Loss-
PRICKLE1-
-
-
-
1Loss-
PRICKLE2-
-
-
-
1Loss-
PRIM1-
-
-
-
1Loss-
PRIM2-
-
-
-
3Gain-
PRIMPOL-
-
-
-
1Loss-
PRKACA-
-
-
-
1Loss-
PRKACG-
-
-
-
3Gain-
PRKAG1-
-
-
-
1Loss-
PRKAG3-
-
-
-
1Loss-
PRKAR2A-
-
-
-
1Loss-
PRKAR2B-
-
-
-
1Loss-
PRKCB-
-
-
-
3Gain-
PRKCD-
-
-
-
1Loss-
PRKCG-
-
-
-
3Gain-
PRKCQ-
-
-
-
5Amp-
PRKCSH-
-
-
-
3Gain-
PRKD2-
-
-
-
1Loss-
PRKG1-
-
-
-
1Loss-
PRKG2-
-
-
-
1Loss-
PRKRIP1-
-
-
-
1Loss-
PRL-
-
-
-
10Amp-
PRLH-
-
-
-
1Loss-
PRLHR-
-
-
-
1Loss-
PRM1-
-
-
-
3Gain-
PRM2-
-
-
-
3Gain-
PRM3-
-
-
-
3Gain-
PRMT3-
-
-
-
1Loss-
PRMT7-
-
-
-
1Loss-
PRMT8-
-
-
-
3Gain-
PRND-
-
-
-
1Loss-
PRNP-
-
-
-
1Loss-
PROB1-
-
-
-
1Loss-
PROC-
-
-
-
3Gain-
PRODH-
-
-
-
1Loss-
PRODH2-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PROKR2-
-
-
-
1Loss-
PROM1-
-
-
-
3Gain-
PROSER1-
-
-
-
1Loss-
PROSER2-
-
-
-
5Amp-
PROSER3-
-
-
-
1Loss-
PRPF18-
-
-
-
5Amp-
PRPF3-
-
-
-
3Gain-
PRPF31-
-
-
-
3Gain-
PRPF4-
-
-
-
3Gain-
PRPF40A-
-
-
-
1Loss-
PRPF40B-
-
-
-
1Loss-
PRPF4B-
-
-
-
3Gain-
PRPF6-
-
-
-
3Gain-
PRPF8-
-
-
-
1Loss-
PRPH-
-
-
-
1Loss-
PRPS1L1-
-
-
-
3Gain-
PRPSAP2-
-
-
-
1Loss-
PRR13-
-
-
-
1Loss-
PRR14-
-
-
-
3Gain-
PRR15-
-
-
-
1Loss-
PRR16-
-
-
-
1Loss-
PRR19-
-
-
-
1Loss-
PRR22-
-
-
-
1Loss-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR26-
-
-
-
5Amp-
PRR27-
-
-
-
1Loss-
PRR33-
-
-
-
1Loss-
PRR35-
-
-
-
1Loss-
PRR36-
-
-
-
3Gain-
PRR9-
-
-
-
3Gain-
PRRC1-
-
-
-
1Loss-
PRRT2-
-
-
-
3Gain-
PRRT4-
-
-
-
1Loss-
PRSS1-
-
-
-
4Gain-
PRSS2-
-
-
-
4Gain-
PRSS21-
-
-
-
1Loss-
PRSS22-
-
-
-
1Loss-
PRSS27-
-
-
-
1Loss-
PRSS33-
-
-
-
1Loss-
PRSS35-
-
-
-
1Loss-
PRSS36-
-
-
-
3Gain-
PRSS41-
-
-
-
1Loss-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS53-
-
-
-
3Gain-
PRSS54-
-
-
-
1Loss-
PRSS55-
-
-
-
1Loss-
PRSS56-
-
-
-
1Loss-
PRSS57-
-
-
-
1Loss-
PRSS8-
-
-
-
3Gain-
PRTFDC1-
-
-
-
5Amp-
PRTG-
-
-
-
1Loss-
PRTN3-
-
-
-
1Loss-
PRUNE1-
-
-
-
3Gain-
PRUNE2-
-
-
-
3Gain-
PRX-
-
-
-
1Loss-
PRXL2A-
-
-
-
1Loss-
PRXL2C-
-
-
-
3Gain-
PSAP-
-
-
-
1Loss-
PSAPL1-
-
-
-
1Loss-
PSAT1-
-
-
-
3Gain-
PSD-
-
-
-
1Loss-
PSD2-
-
-
-
1Loss-
PSD3-
-
-
-
1Loss-
PSENEN-
-
-
-
1Loss-
PSG1-
-
-
-
1Loss-
PSG11-
-
-
-
1Loss-
PSG2-
-
-
-
1Loss-
PSG3-
-
-
-
1Loss-
PSG4-
-
-
-
1Loss-
PSG5-
-
-
-
1Loss-
PSG6-
-
-
-
1Loss-
PSG7-
-
-
-
1Loss-
PSG8-
-
-
-
1Loss-
PSG9-
-
-
-
1Loss-
PSIP1-
-
-
-
1Loss-
PSKH1-
-
-
-
1Loss-
PSMA1-
-
-
-
1Loss-
PSMA2-
-
-
-
1Loss-
PSMA4-
-
-
-
1Loss-
PSMA7-
-
-
-
3Gain-
PSMA8-
-
-
-
9Amp-
PSMB10-
-
-
-
1Loss-
PSMB4-
-
-
-
3Gain-
PSMB6-
-
-
-
1Loss-
PSMC2-
-
-
-
1Loss-
PSMC4-
-
-
-
1Loss-
PSMD1-
-
-
-
1Loss-
PSMD13-
-
-
-
1LossCEP126--PSMD13
PSMD14-
-
-
-
1Loss-
PSMD4-
-
-
-
3Gain-
PSMD6-
-
-
-
1Loss-
PSMD7-
-
-
-
1Loss-
PSMD8-
-
-
-
1Loss-
PSMF1-
-
-
-
1Loss-
PSMG4-
-
-
-
5Amp-
PSPC1-
-
-
-
1Loss-
PSPN-
-
-
-
1Loss-
PSTK-
-
-
-
1Loss-
PSTPIP1-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTAFR-
-
-
-
1Loss-
PTAR1-
-
-
-
3Gain-
PTBP1-
-
-
-
1Loss-
PTBP3-
-
-
-
3Gain-
PTCD1-
-
-
-
1Loss-
PTCD2-
-
-
-
1Loss-
PTCH1-
-
-
-
3Gain-
PTCHD4-
-
-
-
1Loss-
PTDSS2-
-
-
-
1Loss-
PTEN-
-
-
-
1Loss-
PTER-
-
-
-
5Amp-
PTF1A-
-
-
-
5Amp-
PTGER1-
-
-
-
1Loss-
PTGES3-
-
-
-
1Loss-
PTGIR-
-
-
-
1Loss-
PTGR1-
-
-
-
3Gain-
PTH-
-
-
-
1Loss-
PTH1R-
-
-
-
1Loss-
PTH2R-
-
-
-
1Loss-
PTK6-
-
-
-
3Gain-
PTMA-
-
-
-
1Loss-
PTMS-
-
-
-
3Gain-
PTPDC1-
-
-
-
3Gain-
PTPN13-
-
-
-
1Loss-
PTPN18-
-
-
-
3Gain-
PTPN20-
-
-
-
1Loss-
PTPN23-
-
-
-
1Loss-
PTPN3-
-
-
-
3Gain-
PTPN4-
-
-
-
3Gain-
PTPN5-
-
-
-
1Loss-
PTPN6-
-
-
-
3Gain-
PTPN9-
-
-
-
1Loss-
PTPRA-
-
-
-
1Loss-
PTPRB-
-
-
-
1Loss-
PTPRE-
-
-
-
1Loss-
PTPRG-
-
-
-
1Loss-
PTPRK-
-
-
-
1Loss-
PTPRN-
-
-
-
1Loss-
PTPRQ-
-
-
-
1Loss-
PTPRR-
-
-
-
1Loss-
PTPRS-
-
-
-
1Loss-
PTPRZ1-
-
-
-
1Loss-
PTTG1-
-
-
-
1Loss-
PTTG2-
-
-
-
3Gain-
PTX4-
-
-
-
1Loss-
PURA-
-
-
-
1Loss-
PURB-
-
-
-
1Loss-
PUS7-
-
-
-
1Loss-
PUS7L-
-
-
-
1Loss-
PVR-
-
-
-
1Loss-
PVRIG-
-
-
-
1Loss-
PWP1-
-
-
-
1Loss-
PWWP2A-
-
-
-
1Loss-
PWWP2B-
-
-
-
1Loss-
PXDC1-
-
-
-
3Gain-
PXK-
-
-
-
1Loss-
PYCARD-
-
-
-
3Gain-
PYDC1-
-
-
-
3Gain-
PYGB-
-
-
-
1Loss-
PYGO1-
-
-
-
1Loss-
PYGO2-
-
-
-
3Gain-
PYHIN1-
-
-
-
3Gain-
PYM1-
-
-
-
1Loss-
PYROXD2-
-
-
-
1Loss-
PYURF-
-
-
-
1Loss-
QARS-
-
-
-
1Loss-
QDPR-
-
-
-
3Gain-
QPCTL-
-
-
-
1Loss-
QPRT-
-
-
-
3Gain-
QRICH1-
-
-
-
1Loss-
QRSL1-
-
-
-
1Loss-
QSOX1-
-
-
-
1Loss-
QTRT1-
-
-
-
3Gain-
R3HCC1-
-
-
-
1Loss-
R3HCC1L-
-
-
-
1Loss-
R3HDM1-
-
-
-
1Loss-
R3HDM2-
-
-
-
1Loss-
R3HDM4-
-
-
-
1Loss-
RAB11A-
-
-
-
1Loss-
RAB11B-
-
-
-
3Gain-
RAB11FIP2-
-
-
-
1Loss-
RAB11FIP3-
-
-
-
1Loss-
RAB13-
-
-
-
3Gain-
RAB17-
-
-
-
1Loss-
RAB21-
-
-
-
1Loss-
RAB23-
-
-
-
3Gain-
RAB25-
-
-
-
3Gain-
RAB26-
-
-
-
1Loss-
RAB27A-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB28-
-
-
-
1Loss-
RAB3A-
-
-
-
1Loss-
RAB3C-
-
-
-
1Loss-
RAB3D-
-
-
-
3Gain-
RAB3GAP1-
-
-
-
1Loss-
RAB3IP-
-
-
-
1Loss-
RAB40C-
-
-
-
1Loss-
RAB4B-
-
-
-
1Loss-
RAB4B-EGLN2-
-
-
-
1Loss-
RAB5B-
-
-
-
1Loss-
RAB6C-
-
-
-
3Gain-
RAB6D-
-
-
-
3Gain-
RAB8A-
-
-
-
1Loss-
RAB8B-
-
-
-
1Loss-
RABAC1-
-
-
-
1Loss-
RABEP1-
-
-
-
1Loss-
RABEP2-
-
-
-
3Gain-
RAC1-
-
-
-
3Gain-
RACGAP1-
-
-
-
1Loss-
RAD17-
-
-
-
1Loss-
RAD21L1-
-
-
-
1Loss-
RAD23A-
-
-
-
3Gain-
RAD23B-
-
-
-
3Gain-
RAD50-
-
-
-
1Loss-
RAD51-
-
-
-
1Loss-
RAD51AP1-
-
-
-
3Gain-
RAD52-
-
-
-
3Gain-
RAD54L2-
-
-
-
1Loss-
RAI1-
-
-
-
1Loss-
RALA-
-
-
-
1Loss-
RALB-
-
-
-
3Gain-
RALGAPA2-
-
-
-
1Loss-
RALGPS2-
-
-
-
1Loss-
RAMAC-
-
-
-
1Loss-
RAMP1-
-
-
-
1Loss-
RAMP3-
-
-
-
1Loss-
RANBP1-
-
-
-
1Loss-
RANBP10-
-
-
-
1Loss-
RANBP17-
-
-
-
1Loss-
RANBP3-
-
-
-
1Loss-
RANBP9-
-
-
-
3Gain-
RANGRF-
-
-
-
1Loss-
RAP1B-
-
-
-
1Loss-
RAP1GAP-
-
-
-
1Loss-
RAP1GAP2-
-
-
-
1Loss-
RAPGEF3-
-
-
-
1Loss-
RAPGEF5-
-
-
-
1Loss-
RAPGEF6-
-
-
-
1Loss-
RAPH1-
-
-
-
1Loss-
RARG-
-
-
-
1Loss-
RARS-
-
-
-
1Loss-
RARS2-
-
-
-
1Loss-
RASA1-
-
-
-
1Loss-
RASA4-
-
-
-
1Loss-
RASA4B-
-
-
-
1Loss-
RASAL2-
-
-
-
1Loss-
RASAL3-
-
-
-
1Loss-
RASD1-
-
-
-
1Loss-
RASEF-
-
-
-
3Gain-
RASGEF1B-
-
-
-
1Loss-
RASGRF1-
-
-
-
1Loss-
RASGRF2-
-
-
-
1Loss-
RASGRP1-
-
-
-
1Loss-
RASGRP4-
-
-
-
1Loss-
RASL11A-
-
-
-
1Loss-
RASL11B-
-
-
-
3Gain-
RASL12-
-
-
-
1Loss-
RASSF1-
-
-
-
1Loss-
RASSF10-
-
-
-
1Loss-
RASSF2-
-
-
-
1Loss-
RASSF3-
-
-
-
1Loss-
RASSF6-
-
-
-
1Loss-
RASSF7-
-
-
-
1Loss-
RASSF9-
-
-
-
1Loss-
RAVER1-
-
-
-
3Gain-
RAX-
-
-
-
1Loss-
RAX2-
-
-
-
1Loss-
RB1p.X405_splice
Splice_Site
SNP
1.000
1Loss-
RBBP6-
-
-
-
3Gain-
RBBP8-
-
-
-
6Amp-
RBBP8NL-
-
-
-
3Gain-
RBBP9-
-
-
-
1Loss-
RBCK1-
-
-
-
1Loss-
RBFA-
-
-
-
1Loss-
RBFOX1-
-
-
-
1Loss-
RBL2-
-
-
-
1Loss-
RBM15B-
-
-
-
1Loss-
RBM17-
-
-
-
5Amp-
RBM20-
-
-
-
1Loss-
RBM22-
-
-
-
1Loss-
RBM27-
-
-
-
1Loss-
RBM28-
-
-
-
1Loss-
RBM42-
-
-
-
1Loss-
RBM43-
-
-
-
1Loss-
RBM44-
-
-
-
1Loss-
RBM47-
-
-
-
1Loss-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBMS1-
-
-
-
1Loss-
RBMS2-
-
-
-
1Loss-
RBMXL2-
-
-
-
1Loss-
RBP3-
-
-
-
1Loss-
RBP4-
-
-
-
1Loss-
RBP5-
-
-
-
3Gain-
RBP7-
-
-
-
1Loss-
RBPJ-
-
-
-
1Loss-
RBPMS2-
-
-
-
1Loss-
RCAN2-
-
-
-
1Loss-
RCAN3-
-
-
-
1Loss-
RCBTB1-
-
-
-
1Loss-
RCBTB2-
-
-
-
1Loss-
RCC2-
-
-
-
1Loss-
RCCD1-
-
-
-
1Loss-
RCHY1-
-
-
-
1Loss-
RCN2-
-
-
-
1Loss-
RCVRN-
-
-
-
1Loss-
RDH16-
-
-
-
1Loss-
RDH5-
-
-
-
1Loss-
RDH8-
-
-
-
3Gain-
REC114-
-
-
-
1Loss-
REEP2-
-
-
-
1Loss-
REEP3-
-
-
-
1Loss-
REEP4-
-
-
-
1Loss-
REEP5-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
RELB-
-
-
-
1Loss-
RELCH-
-
-
-
1Loss-
RELL1-
-
-
-
3Gain-
RELL2-
-
-
-
1Loss-
RELN-
-
-
-
1Loss-
RESP18-
-
-
-
1Loss-
REST-
-
-
-
3Gain-
RETN-
-
-
-
3Gain-
RETREG1-
-
-
-
3Gain-
RETREG2-
-
-
-
1Loss-
REV3L-
-
-
-
1Loss-
REX1BD-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
REXO5-
-
-
-
3Gain-
RFC1-
-
-
-
3Gain-
RFC3-
-
-
-
1Loss-
RFESD-
-
-
-
1Loss-
RFK-
-
-
-
3Gain-
RFLNB-
-
-
-
1Loss-
RFPL4B-
-
-
-
1Loss-
RFT1-
-
-
-
1Loss-
RFWD3-
-
-
-
1Loss-
RFX1-
-
-
-
1Loss-
RFX2-
-
-
-
1Loss-
RFX4-
-
-
-
1Loss-
RFX5-
-
-
-
3Gain-
RFX6-
-
-
-
1Loss-
RFX7-
-
-
-
1Loss-
RFXANK-
-
-
-
1Loss-
RFXAP-
-
-
-
1Loss-
RGCC-
-
-
-
1Loss-
RGL3-
-
-
-
3Gain-
RGMA-
-
-
-
1Loss-
RGMB-
-
-
-
1Loss-
RGR-
-
-
-
1Loss-
RGS10-
-
-
-
1Loss-
RGS11-
-
-
-
1Loss-
RGS12-
-
-
-
1Loss-
RGS19-
-
-
-
3Gain-
RGS3-
-
-
-
3Gain-
RGS7BP-
-
-
-
1Loss-
RGS9BP-
-
-
-
1Loss-
RHAG-
-
-
-
1Loss-
RHBDD1-
-
-
-
1Loss-
RHBDF1-
-
-
-
1Loss-
RHBDL1-
-
-
-
1Loss-
RHBG-
-
-
-
3Gain-
RHCE-
-
-
-
1Loss-
RHCG-
-
-
-
1Loss-
RHD-
-
-
-
1Loss-
RHEBL1-
-
-
-
1Loss-
RHNO1-
-
-
-
3Gain-
RHOA-
-
-
-
1Loss-
RHOBTB1-
-
-
-
1Loss-
RHOBTB2-
-
-
-
1Loss-
RHOBTB3-
-
-
-
1Loss-
RHOG-
-
-
-
1Loss-
RHOH-
-
-
-
3Gain-
RHOT2-
-
-
-
1Loss-
RHOV-
-
-
-
1Loss-
RHPN2-
-
-
-
1Loss-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RIC8B-
-
-
-
1Loss-
RIF1-
-
-
-
1Loss-
RIIAD1-
-
-
-
3Gain-
RILP-
-
-
-
1Loss-
RIMS1-
-
-
-
3Gain-
RIN2-
-
-
-
1Loss-
RINL-
-
-
-
1Loss-
RINT1-
-
-
-
1Loss-
RIOK1-
-
-
-
3Gain-
RIOK2-
-
-
-
1Loss-
RIOK3-
-
-
-
7Amp-
RIPK1-
-
-
-
5Amp-
RIPOR1-
-
-
-
1Loss-
RIPOR2-
-
-
-
7Amp-
RIPPLY2-
-
-
-
1Loss-
RIT1-
-
-
-
3Gain-
RIT2-
-
-
-
1Loss-
RLBP1-
-
-
-
1Loss-
RLN3-
-
-
-
1Loss-
RMC1-
-
-
-
7Amp-
RMDN3-
-
-
-
1Loss-
RMI1-
-
-
-
3Gain-
RMI2-
-
-
-
3Gain-
RN7SL1-
-
-
-
NDNDDSP--RN7SL1
RNA5-8SN2-
-
-
-
NDNDRNA5-8SN2--KISS1
RNA5-8SN2--FLNA
ITGA3--RNA5-8SN2
CEP250--RNA5-8SN2
SOD2--RNA5-8SN2
RNASEH2A-
-
-
-
3Gain-
RNASEH2B-
-
-
-
1Loss-
RNASEK-
-
-
-
1Loss-
RNASEK-C17orf49-
-
-
-
1Loss-
RND1-
-
-
-
1Loss-
RND3-
-
-
-
1Loss-
RNF111-
-
-
-
1Loss-
RNF112-
-
-
-
1Loss-
RNF123-
-
-
-
1Loss-
RNF125-
-
-
-
1Loss-
RNF126-
-
-
-
1Loss-
RNF133-
-
-
-
1Loss-
RNF138-
-
-
-
1Loss-
RNF14-
-
-
-
1Loss-
RNF141-
-
-
-
1Loss-
RNF145-
-
-
-
1Loss-
RNF146-
-
-
-
1Loss-
RNF148-
-
-
-
1Loss-
RNF151-
-
-
-
1Loss-
RNF152-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF166-
-
-
-
1Loss-
RNF167-
-
-
-
1Loss-
RNF17-
-
-
-
1Loss-
RNF180-
-
-
-
1Loss-
RNF182-
-
-
-
3Gain-
RNF183-
-
-
-
3Gain-
RNF186-
-
-
-
1Loss-
RNF20-
-
-
-
3Gain-
RNF217-
-
-
-
1Loss-
RNF222-
-
-
-
1Loss-
RNF225-
-
-
-
3Gain-
RNF227-
-
-
-
1Loss-
RNF24-
-
-
-
1Loss-
RNF25-
-
-
-
1Loss-
RNF4-
-
-
-
1Loss-
RNF40-
-
-
-
3Gain-
RNF41-
-
-
-
1Loss-
RNF6-
-
-
-
1Loss-
RNGTT-
-
-
-
1Loss-
RNH1-
-
-
-
1Loss-
RNLS-
-
-
-
1Loss-
RNPEPL1-
-
-
-
1Loss-
RNPS1-
-
-
-
1Loss-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROCK1-
-
-
-
3Gain-
ROGDI-
-
-
-
1Loss-
ROPN1L-
-
-
-
1Loss-
ROR2-
-
-
-
3Gain-
RORA-
-
-
-
1Loss-
RORB-
-
-
-
3Gain-
RORC-
-
-
-
3Gain-
ROS1-
-
-
-
1Loss-
RP11-310K10.1p.E545Q
Missense
SNP
0.492
NDND-
RP1L1-
-
-
-
1Loss-
RP9-
-
-
-
1Loss-
RPA1-
-
-
-
1Loss-
RPA2-
-
-
-
1Loss-
RPA3-
-
-
-
3Gain-
RPAIN-
-
-
-
1Loss-
RPAP1-
-
-
-
1Loss-
RPAP3-
-
-
-
1Loss-
RPE-
-
-
-
1Loss-
RPEL1-
-
-
-
1Loss-
RPF2-
-
-
-
1Loss-
RPGRIP1L-
-
-
-
1Loss-
RPH3AL-
-
-
-
1Loss-
RPL11-
-
-
-
1Loss-
RPL13-
-
-
-
1Loss-
RPL14-
-
-
-
1Loss-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL18A-
-
-
-
1Loss-
RPL21-
-
-
-
1Loss-
RPL26-
-
-
-
1Loss-
RPL26L1-
-
-
-
1Loss-
RPL27A-
-
-
-
1Loss-
RPL29-
-
-
-
1Loss-
RPL37A-
-
-
-
1Loss-
RPL3L-
-
-
-
1Loss-
RPL4-
-
-
-
1Loss-
RPL41-
-
-
-
1Loss-
RPL9-
-
-
-
3Gain-
RPLP1-
-
-
-
1Loss-
RPLP2-
-
-
-
1Loss-
RPP14-
-
-
-
1Loss-
RPP25-
-
-
-
1Loss-
RPP30-
-
-
-
1Loss-
RPP38-
-
-
-
5Amp-
RPP40-
-
-
-
3Gain-
RPRD1A-
-
-
-
1Loss-
RPRD2-
-
-
-
3Gain-
RPRM-
-
-
-
1Loss-
RPS13-
-
-
-
1Loss-
RPS14-
-
-
-
1Loss-
RPS15-
-
-
-
1Loss-
RPS15A-
-
-
-
3Gain-
RPS16-
-
-
-
1Loss-
RPS17-
-
-
-
1Loss-
RPS19-
-
-
-
1Loss-
RPS2-
-
-
-
1Loss-
RPS21-
-
-
-
3Gain-
RPS23-
-
-
-
1Loss-
RPS24-
-
-
-
1Loss-
RPS26-
-
-
-
1Loss-
RPS27-
-
-
-
3Gain-
RPS27L-
-
-
-
1Loss-
RPS28-
-
-
-
3Gain-
RPS5-
-
-
-
3Gain-
RPS6-
-
-
-
1Loss-
RPS6KA1-
-
-
-
1Loss-
RPS9-
-
-
-
3Gain-
RPSA-
-
-
-
1Loss-
RPTN-
-
-
-
5Amp-
RPUSD1-
-
-
-
1Loss-
RPUSD2-
-
-
-
1Loss-
RRAD-
-
-
-
1Loss-
RRAGA-
-
-
-
1Loss-
RRAGD-
-
-
-
1Loss-
RRAS2-
-
-
-
1Loss-
RRBP1-
-
-
-
1Loss-
RREB1-
-
-
-
3Gain-
RRM1-
-
-
-
1Loss-
RRN3-
-
-
-
3Gain-
RRNAD1-
-
-
-
3Gain-
RRP12-
-
-
-
1Loss-
RRP8-
-
-
-
1Loss-
RRP9-
-
-
-
1Loss-
RSC1A1-
-
-
-
1Loss-
RSL1D1-
-
-
-
3Gain-
RSL24D1-
-
-
-
1Loss-
RSPH10B-
-
-
-
3Gain-
RSPH10B2-
-
-
-
3Gain-
RSPH4A-
-
-
-
1Loss-
RSPH6A-
-
-
-
1Loss-
RSPO3-
-
-
-
1Loss-
RSPO4-
-
-
-
1Loss-
RSPRY1-
-
-
-
1Loss-
RSRP1-
-
-
-
1Loss-
RSU1-
-
-
-
5Amp-
RTBDN-
-
-
-
3Gain-
RTEL1-
-
-
-
3Gain-
RTEL1-TNFRSF6B-
-
-
-
3Gain-
RTF1-
-
-
-
1Loss-
RTKN2-
-
-
-
1Loss-
RTL10-
-
-
-
1Loss-
RTN2-
-
-
-
1Loss-
RTN4IP1-
-
-
-
1Loss-
RTN4R-
-
-
-
1Loss-
RTN4RL1-
-
-
-
1Loss-
RTP3-
-
-
-
1Loss-
RTP5-
-
-
-
1Loss-
RTTN-
-
-
-
1Loss-
RUBCNL-
-
-
-
1Loss-
RUFY2-
-
-
-
1Loss-
RUFY3-
-
-
-
1Loss-
RUFY4-
-
-
-
1Loss-
RUNX2-
-
-
-
1Loss-
RUNX3-
-
-
-
1Loss-
RUSC1-
-
-
-
3Gain-
RWDD1-
-
-
-
1Loss-
RWDD2A-
-
-
-
1Loss-
RWDD4-
-
-
-
1Loss-
RXFP2-
-
-
-
0Del-
RXFP4-
-
-
-
3Gain-
RXYLT1-
-
-
-
1Loss-
RYBP-
-
-
-
1Loss-
RYR1-
-
-
-
1Loss-
RYR3-
-
-
-
1Loss-
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-
S100P-
-
-
-
1Loss-
S100Z-
-
-
-
1Loss-
S1PR2-
-
-
-
3Gain-
S1PR3-
-
-
-
3Gain-
S1PR4-
-
-
-
1Loss-
S1PR5-
-
-
-
3Gain-
SAA1-
-
-
-
1Loss-
SAA2-
-
-
-
1Loss-
SAA2-SAA4-
-
-
-
1Loss-
SAA4-
-
-
-
1Loss-
SAAL1-
-
-
-
1Loss-
SACM1L-
-
-
-
1Loss-
SACS-
-
-
-
1Loss-
SAFB-
-
-
-
1Loss-
SAFB2-
-
-
-
1Loss-
SAG-
-
-
-
1Loss-
SALL1-
-
-
-
1Loss-
SALL3-
-
-
-
1Loss-
SAMD1-
-
-
-
1Loss-
SAMD10-
-
-
-
3Gain-
SAMD4B-
-
-
-
1Loss-
SAMD8-
-
-
-
3Gain-
SAP130-
-
-
-
3Gain-
SAP18-
-
-
-
1Loss-
SAP25-
-
-
-
1Loss-
SAP30-
-
-
-
1Loss-
SAP30L-
-
-
-
1Loss-
SAR1A-
-
-
-
1Loss-
SAR1B-
-
-
-
1Loss-
SARNP-
-
-
-
1Loss-
SARS2-
-
-
-
1Loss-
SAT2-
-
-
-
1Loss-
SAXO1-
-
-
-
1Loss-
SAXO2-
-
-
-
1Loss-
SBF2-
-
-
-
1Loss-
SBK1-
-
-
-
3Gain-
SBNO2-
-
-
-
1Loss-
SBSN-
-
-
-
1Loss-
SCAF11-
-
-
-
1Loss-
SCAMP1-
-
-
-
1Loss-
SCAMP2-
-
-
-
1Loss-
SCAMP3-
-
-
-
3Gain-
SCAMP4-
-
-
-
1Loss-
SCAMP5-
-
-
-
1Loss-
SCAP-
-
-
-
1Loss-
SCAPER-
-
-
-
1Loss-
SCARB2-
-
-
-
1Loss-
SCARF1-
-
-
-
1Loss-
SCARF2-
-
-
-
1Loss-
SCART1-
-
-
-
1Loss-
SCD-
-
-
-
1Loss-
SCD5-
-
-
-
1Loss-
SCFD2-
-
-
-
3Gain-
SCG2-
-
-
-
1Loss-
SCG3-
-
-
-
1Loss-
SCG5-
-
-
-
1Loss-
SCGB1C1-
-
-
-
1Loss-
SCGB1C2-
-
-
-
1Loss-
SCGB2B2-
-
-
-
1Loss-
SCGB3A2-
-
-
-
1Loss-
SCIMP-
-
-
-
1Loss-
SCIN-
-
-
-
3Gain-
SCLY-
-
-
-
1Loss-
SCML4-
-
-
-
1Loss-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN1A-
-
-
-
1Loss-
SCN1B-
-
-
-
1Loss-
SCN2A-
-
-
-
1Loss-
SCN3A-
-
-
-
1Loss-
SCN5A-
-
-
-
1Loss-
SCN8A-
-
-
-
1Loss-
SCN9A-
-
-
-
1Loss-
SCNM1-
-
-
-
3Gain-
SCNN1A-
-
-
-
3Gain-
SCNN1B-
-
-
-
3Gain-
SCNN1G-
-
-
-
3Gain-
SCO1-
-
-
-
1Loss-
SCP2D1-
-
-
-
1Loss-
SCRG1-
-
-
-
1Loss-
SCRN1-
-
-
-
1Loss-
SCRT2-
-
-
-
1Loss-
SCT-
-
-
-
1Loss-
SCTR-
-
-
-
3Gain-
SCUBE2-
-
-
-
1Loss-
SCX-
-
-
-
1Loss-
SCYL2-
-
-
-
1Loss-
SDAD1-
-
-
-
1Loss-
SDCBP2-
-
-
-
1Loss-
SDHA-
-
-
-
1Loss-
SDHAF1-
-
-
-
1Loss-
SDHAF4-
-
-
-
3Gain-
SDHB-
-
-
-
1Loss-
SDR42E1-
-
-
-
1Loss-
SDR42E2-
-
-
-
3Gain-
SDR9C7-
-
-
-
1Loss-
SEC11A-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC14L5-
-
-
-
1Loss-
SEC16B-
-
-
-
1Loss-
SEC22C-
-
-
-
1Loss-
SEC23B-
-
-
-
1Loss-
SEC23IP-
-
-
-
1Loss-
SEC24A-
-
-
-
1Loss-
SEC24C-
-
-
-
1Loss-
SEC31A-
-
-
-
1Loss-
SEC31B-
-
-
-
1Loss-
SEC61A2-
-
-
-
5Amp-
SEC61B-
-
-
-
3Gain-
SEC63-
-
-
-
1Loss-
SECISBP2-
-
-
-
3Gain-
SECISBP2L-
-
-
-
1Loss-
SEL1L2-
-
-
-
1Loss-
SEL1L3-
-
-
-
1Loss-
SELENBP1-
-
-
-
3Gain-
SELENOK-
-
-
-
1Loss-
SELENON-
-
-
-
1Loss-
SELENOS-
-
-
-
1Loss-
SELENOV-
-
-
-
1Loss-
SEMA3B-
-
-
-
1Loss-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA4A-
-
-
-
3Gain-
SEMA4B-
-
-
-
1Loss-
SEMA4D-
-
-
-
3Gain-
SEMA4G-
-
-
-
1Loss-
SEMA5A-
-
-
-
1Loss-
SEMA6A-
-
-
-
1Loss-
SEMA6B-
-
-
-
1Loss-
SEMA6C-
-
-
-
3Gain-
SEMA6D-
-
-
-
1Loss-
SEMA7A-
-
-
-
1Loss-
SENP1-
-
-
-
1Loss-
SENP3-
-
-
-
1Loss-
SENP3-EIF4A1-
-
-
-
1Loss-
SENP6-
-
-
-
3Gain-
SENP8-
-
-
-
1Loss-
SEPHS1-
-
-
-
5Amp-
SEPHS2-
-
-
-
3Gain-
SEPSECS-
-
-
-
1Loss-
SEPT1-
-
-
-
3Gain-
SEPT11-
-
-
-
1Loss-
SEPT12-
-
-
-
1Loss-
SEPT2-
-
-
-
1Loss-
SEPT5-
-
-
-
1Loss-
SEPT5-GP1BB-
-
-
-
1Loss-
SEPT7-
-
-
-
1Loss-
SEPT8-
-
-
-
1Loss-
SERF1A-
-
-
-
1Loss-
SERF1B-
-
-
-
1Loss-
SERF2-
-
-
-
1Loss-
SERGEF-
-
-
-
1Loss-
SERINC1-
-
-
-
1Loss-
SERINC4-
-
-
-
1Loss-
SERINC5-
-
-
-
1Loss-
SERP2-
-
-
-
1Loss-
SERPINB1-
-
-
-
5Amp-
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2-
-
-
-
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB6-
-
-
-
5Amp-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINB9-
-
-
-
5Amp-
SERPINE1-
-
-
-
1Loss-
SERPINE2-
-
-
-
1Loss-
SERPINE3-
-
-
-
1Loss-
SERPINF1-
-
-
-
1Loss-
SERPINF2-
-
-
-
1Loss-
SERTAD1-
-
-
-
1Loss-
SERTAD3-
-
-
-
1Loss-
SERTM1-
-
-
-
1Loss-
SESN1-
-
-
-
1Loss-
SETBP1-
-
-
-
1Loss-
SETD1A-
-
-
-
3Gain-
SETD2-
-
-
-
1Loss-
SETD6-
-
-
-
1Loss-
SETD9-
-
-
-
1Loss-
SETDB1-
-
-
-
3Gain-
SETDB2-
-
-
-
1Loss-
SEZ6L2-
-
-
-
3Gain-
SF3A2-
-
-
-
1Loss-
SF3B3-
-
-
-
1Loss-
SF3B4-
-
-
-
3Gain-
SFMBT1-
-
-
-
1Loss-
SFMBT2-
-
-
-
5Amp-
SFN-
-
-
-
1Loss-
SFR1-
-
-
-
1Loss-
SFRP4-
-
-
-
1Loss-
SFRP5-
-
-
-
1Loss-
SFTPA1-
-
-
-
1Loss-
SFTPA2-
-
-
-
1Loss-
SFTPC-
-
-
-
1Loss-
SFTPD-
-
-
-
1Loss-
SFXN2-
-
-
-
1Loss-
SFXN3-
-
-
-
1Loss-
SFXN4-
-
-
-
1Loss-
SGCB-
-
-
-
3Gain-
SGCD-
-
-
-
1Loss-
SGCG-
-
-
-
1Loss-
SGCZ-
-
-
-
1Loss-
SGF29-
-
-
-
3Gain-
SGMS1-
-
-
-
1Loss-
SGPL1-
-
-
-
1Loss-
SGPP2-
-
-
-
1Loss-
SGSM2-
-
-
-
1Loss-
SGTA-
-
-
-
1Loss-
SGTB-
-
-
-
1Loss-
SH2B1-
-
-
-
3Gain-
SH2B2-
-
-
-
1Loss-
SH2D2A-
-
-
-
3Gain-
SH2D3A-
-
-
-
3Gain-
SH2D4A-
-
-
-
1Loss-
SH2D4B-
-
-
-
1Loss-
SH2D5-
-
-
-
1Loss-
SH2D7-
-
-
-
1Loss-
SH3BGRL2-
-
-
-
1Loss-
SH3BGRL3-
-
-
-
1Loss-
SH3BP2-
-
-
-
1Loss-
SH3BP4-
-
-
-
1Loss-
SH3GL1-
-
-
-
1Loss-
SH3GL2-
-
-
-
1Loss-
SH3GL3-
-
-
-
1Loss-
SH3PXD2A-
-
-
-
1Loss-
SH3PXD2B-
-
-
-
1Loss-
SH3RF1-
-
-
-
1Loss-
SH3RF2-
-
-
-
1Loss-
SH3TC1-
-
-
-
1Loss-
SH3TC2-
-
-
-
1Loss-
SHBG-
-
-
-
1Loss-
SHC1-
-
-
-
3Gain-
SHC2-
-
-
-
1Loss-
SHC3-
-
-
-
3Gain-
SHC4-
-
-
-
1Loss-
SHCBP1-
-
-
-
1Loss-
SHD-
-
-
-
1Loss-
SHE-
-
-
-
3Gain-
SHF-
-
-
-
1Loss-
SHISA2-
-
-
-
1Loss-
SHISA3-
-
-
-
1Loss-
SHISA5-
-
-
-
1Loss-
SHISA6-
-
-
-
1Loss-
SHISA9-
-
-
-
3Gain-
SHISAL2B-
-
-
-
1Loss-
SHKBP1-
-
-
-
1Loss-
SHLD1-
-
-
-
1Loss-
SHLD2-
-
-
-
1Loss-
SHLD3-
-
-
-
1Loss-
SHMT1-
-
-
-
1Loss-
SHMT2-
-
-
-
1Loss-
SHOC2-
-
-
-
1Loss-
SHPK-
-
-
-
1Loss-
SHQ1-
-
-
-
1Loss-
SHROOM1-
-
-
-
1Loss-
SHROOM3-
-
-
-
1Loss-
SHTN1-
-
-
-
1Loss-
SIAH1-
-
-
-
1Loss-
SIAH3-
-
-
-
1Loss-
SIGIRR-
-
-
-
1Loss-
SIGLEC1-
-
-
-
1Loss-
SIGLEC15-
-
-
-
1Loss-
SIL1-
-
-
-
1Loss-
SIM1-
-
-
-
1Loss-
SIN3A-
-
-
-
1Loss-
SIN3B-
-
-
-
1Loss-
SIPA1L3-
-
-
-
1Loss-
SIRPA-
-
-
-
1Loss-
SIRPB1-
-
-
-
1Loss-
SIRPB2-
-
-
-
1Loss-
SIRPD-
-
-
-
1Loss-
SIRPG-
-
-
-
1Loss-
SIRT1-
-
-
-
1Loss-
SIRT2-
-
-
-
1Loss-
SIRT3-
-
-
-
1Loss-
SIRT5-
-
-
-
3Gain-
SIRT6-
-
-
-
1Loss-
SIX5-
-
-
-
1Loss-
SKA1-
-
-
-
1Loss-
SKA3-
-
-
-
1Loss-
SKAP2-
-
-
-
1Loss-
SKIDA1-
-
-
-
5Amp-
SKOR1-
-
-
-
1Loss-
SKOR2-
-
-
-
1Loss-
SKP1-
-
-
-
1Loss-
SLAIN2-
-
-
-
1Loss-
SLAMF6-
-
-
-
3Gain-
SLAMF8-
-
-
-
3Gain-
SLAMF9-
-
-
-
3Gain-
SLC10A4-
-
-
-
3Gain-
SLC10A6-
-
-
-
1Loss-
SLC11A1-
-
-
-
1Loss-
SLC11A2-
-
-
-
1Loss-
SLC12A1-
-
-
-
1Loss-
SLC12A2-
-
-
-
1Loss-
SLC12A3-
-
-
-
1Loss-
SLC12A4-
-
-
-
1Loss-
SLC12A6-
-
-
-
1Loss-
SLC12A7-
-
-
-
1Loss-
SLC12A9-
-
-
-
1Loss-
SLC13A1-
-
-
-
1Loss-
SLC13A4-
-
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1Loss-
SLC13A5-
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1Loss-
SLC14A1-
-
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1Loss-
SLC14A2-
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1Loss-
SLC16A10-
-
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1Loss-
SLC16A11-
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1Loss-
SLC16A12-
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1Loss-
SLC16A13-
-
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1Loss-
SLC16A14-
-
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1Loss-
SLC16A7-
-
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1Loss-
SLC16A9-
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1Loss-
SLC17A5-
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3Gain-
SLC17A6-
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1Loss-
SLC17A8-
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1Loss-
SLC17A9-
-
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3Gain-
SLC18A1-
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1Loss-
SLC18A2-
-
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1Loss-
SLC18A3-
-
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1Loss-
SLC19A3-
-
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1Loss-
SLC1A5-
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1Loss-
SLC1A6-
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1Loss-
SLC22A13-
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1Loss-
SLC22A14-
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1Loss-
SLC22A16-
-
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1Loss-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC22A23-
-
-
-
5Amp-
SLC22A31-
-
-
-
1Loss-
SLC22A4-
-
-
-
1Loss-
SLC22A5-
-
-
-
1Loss-
SLC23A1-
-
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1Loss-
SLC23A2-
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1Loss-
SLC23A3-
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1Loss-
SLC24A1-
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1Loss-
SLC24A2-
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1Loss-
SLC24A3-
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1Loss-
SLC24A5-
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1Loss-
SLC25A1-
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1Loss-
SLC25A11-
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1Loss-
SLC25A15-
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1Loss-
SLC25A16-
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1Loss-
SLC25A18-
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1Loss-
SLC25A2-
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1Loss-
SLC25A20-
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1Loss-
SLC25A22-
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1Loss-
SLC25A23-
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1Loss-
SLC25A26-
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1Loss-
SLC25A27-
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1Loss-
SLC25A28-
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1Loss-
SLC25A3-
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1Loss-
SLC25A30-
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1Loss-
SLC25A33-
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1Loss-
SLC25A34-
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1Loss-
SLC25A35-
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1Loss-
SLC25A37-
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1Loss-
SLC25A38-
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1Loss-
SLC25A4-
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1Loss-
SLC25A41-
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1Loss-
SLC25A42-
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1Loss-
SLC25A44-
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3Gain-
SLC25A46-
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1Loss-
SLC25A48-
-
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1Loss-
SLC25A52-
-
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1Loss-
SLC26A10-
-
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1Loss-
SLC26A2-
-
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1Loss-
SLC26A3-
-
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1Loss-
SLC26A4-
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1Loss-
SLC26A5-
-
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1Loss-
SLC26A6-
-
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1Loss-
SLC27A1-
-
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1Loss-
SLC27A2-
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1Loss-
SLC27A3-
-
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3Gain-
SLC27A5-
-
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3Gain-
SLC27A6-
-
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1Loss-
SLC28A1-
-
-
-
1Loss-
SLC28A2-
-
-
-
1Loss-
SLC28A3-
-
-
-
3Gain-
SLC29A3-
-
-
-
1Loss-
SLC2A13-
-
-
-
1Loss-
SLC2A14-
-
-
-
3Gain-
SLC2A3-
-
-
-
3Gain-
SLC2A4-
-
-
-
1Loss-
SLC2A4RG-
-
-
-
3Gain-
SLC2A9-
-
-
-
1Loss-
SLC30A2-
-
-
-
1Loss-
SLC30A4-
-
-
-
1Loss-
SLC30A5-
-
-
-
1Loss-
SLC30A9-
-
-
-
1Loss-
SLC31A1-
-
-
-
3Gain-
SLC31A2-
-
-
-
3Gain-
SLC34A2-
-
-
-
1Loss-
SLC35A1-
-
-
-
1Loss-
SLC35A4-
-
-
-
1Loss-
SLC35B3-
-
-
-
3Gain-
SLC35B4-
-
-
-
1Loss-
SLC35D2-
-
-
-
3Gain-
SLC35E1-
-
-
-
1Loss-
SLC35E3-
-
-
-
1Loss-
SLC35F1-
-
-
-
1Loss-
SLC35G1-
-
-
-
1Loss-
SLC35G5-
-
-
-
1Loss-
SLC35G6-
-
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-
1Loss-
SLC36A1-
-
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-
1Loss-
SLC36A2-
-
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-
1Loss-
SLC36A3-
-
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-
1Loss-
SLC38A1-
-
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1Loss-
SLC38A11-
-
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-
1Loss-
SLC38A2-
-
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1Loss-
SLC38A3-
-
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1Loss-
SLC38A4-
-
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1Loss-
SLC38A7-
-
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-
1Loss-
SLC38A8-
-
-
-
1Loss-
SLC38A9-
-
-
-
1Loss-
SLC39A1-
-
-
-
3Gain-
SLC39A12-
-
-
-
5Amp-
SLC39A14-
-
-
-
1Loss-
SLC39A3-
-
-
-
1Loss-
SLC39A5-
-
-
-
1Loss-
SLC39A6-
-
-
-
1Loss-
SLC41A2-
-
-
-
1Loss-
SLC43A2-
-
-
-
1Loss-
SLC44A1-
-
-
-
3Gain-
SLC44A2-
-
-
-
3Gain-
SLC46A2-
-
-
-
3Gain-
SLC46A3-
-
-
-
1Loss-
SLC47A1-
-
-
-
1Loss-
SLC47A2-
-
-
-
1Loss-
SLC48A1-
-
-
-
1Loss-
SLC4A10-
-
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-
1Loss-
SLC4A11-
-
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1Loss-
SLC4A3-
-
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1Loss-
SLC4A4-
-
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1Loss-
SLC4A8-
-
-
-
1Loss-
SLC4A9-
-
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-
1Loss-
SLC50A1-
-
-
-
3Gain-
SLC51B-
-
-
-
1Loss-
SLC52A1-
-
-
-
1Loss-
SLC52A3-
-
-
-
1Loss-
SLC5A10-
-
-
-
1Loss-
SLC5A11-
-
-
-
3Gain-
SLC5A2-
-
-
-
3Gain-
SLC5A5-
-
-
-
1Loss-
SLC5A8-
-
-
-
1Loss-
SLC6A12-
-
-
-
3Gain-
SLC6A13-
-
-
-
3Gain-
SLC6A15-
-
-
-
1Loss-
SLC6A18-
-
-
-
1Loss-
SLC6A19-
-
-
-
1Loss-
SLC6A2-
-
-
-
1Loss-
SLC6A20-
-
-
-
1Loss-
SLC6A3-
-
-
-
1Loss-
SLC6A5-
-
-
-
1Loss-
SLC6A7-
-
-
-
1Loss-
SLC7A1-
-
-
-
1Loss-
SLC7A10-
-
-
-
1Loss-
SLC7A2-
-
-
-
1Loss-
SLC7A5-
-
-
-
1Loss-
SLC7A6-
-
-
-
1Loss-
SLC7A6OS-
-
-
-
1Loss-
SLC7A9-
-
-
-
1Loss-
SLC9A1-
-
-
-
1Loss-
SLC9A3-
-
-
-
1Loss-
SLC9A3R2-
-
-
-
1Loss-
SLC9A5-
-
-
-
1Loss-
SLCO3A1-
-
-
-
1Loss-
SLCO4A1-
-
-
-
3Gain-
SLCO4C1-
-
-
-
1Loss-
SLCO6A1-
-
-
-
1Loss-
SLF1-
-
-
-
1Loss-
SLF2-
-
-
-
1Loss-
SLIT1-
-
-
-
1Loss-
SLIT2-
-
-
-
3Gain-
SLIT3-
-
-
-
1Loss-
SLK-
-
-
-
1Loss-
SLMAP-
-
-
-
1Loss-
SLTM-
-
-
-
1Loss-
SLU7-
-
-
-
1Loss-
SLX1A-
-
-
-
3Gain-
SLX1B-
-
-
-
3Gain-
SLX4-
-
-
-
1Loss-
SLX4IP-
-
-
-
1Loss-
SMAD2-
-
-
-
1Loss-
SMAD3-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD5-
-
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-
1Loss-
SMAD6-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMAD9-
-
-
-
1Loss-
SMAGP-
-
-
-
1Loss-
SMAP1-
-
-
-
3Gain-
SMARCA2-
-
-
-
1Loss-
SMARCA4-
-
-
-
3Gain-
SMARCAL1-
-
-
-
1Loss-
SMARCC1-
-
-
-
1Loss-
SMARCC2-
-
-
-
1Loss-
SMARCD1-
-
-
-
1Loss-
SMC2-
-
-
-
3Gain-
SMC3-
-
-
-
1Loss-
SMC5-
-
-
-
3Gain-
SMCP-
-
-
-
3Gain-
SMCR8-
-
-
-
1Loss-
SMG1-
-
-
-
3Gain-
SMG5-
-
-
-
3Gain-
SMG6-
-
-
-
1Loss-
SMG9-
-
-
-
1Loss-
SMIM13-
-
-
-
3Gain-
SMIM14-
-
-
-
3Gain-
SMIM15-
-
-
-
1Loss-
SMIM2-
-
-
-
1Loss-
SMIM20-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM22-
-
-
-
1Loss-
SMIM23-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM26-
-
-
-
1Loss-
SMIM3-
-
-
-
1Loss-
SMIM30-
-
-
-
1Loss-
SMIM32-
-
-
-
1Loss-
SMIM33-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMIM7-
-
-
-
1Loss-
SMIM8-
-
-
-
1Loss-
SMKR1-
-
-
-
1Loss-
SMN1-
-
-
-
1Loss-
SMN2-
-
-
-
1Loss-
SMNDC1-
-
-
-
1Loss-
SMO-
-
-
-
1Loss-
SMOX-
-
-
-
1Loss-
SMPD1-
-
-
-
1Loss-
SMPD2-
-
-
-
1Loss-
SMPD3-
-
-
-
1Loss-
SMPD4-
-
-
-
3Gain-
SMPDL3A-
-
-
-
1Loss-
SMPDL3B-
-
-
-
1Loss-
SMR3A-
-
-
-
1Loss-
SMR3B-
-
-
-
1Loss-
SMTNL2-
-
-
-
1Loss-
SMUG1-
-
-
-
1Loss-
SMURF1-
-
-
-
1Loss-
SMYD4-
-
-
-
1Loss-
SNAI3-
-
-
-
1Loss-
SNAP23-
-
-
-
1Loss-
SNAP25-
-
-
-
1Loss-
SNAP91-
-
-
-
1Loss-
SNAPC2-
-
-
-
3Gain-
SNAPC3-
-
-
-
1Loss-
SNAPC5-
-
-
-
1Loss-
SNAPIN-
-
-
-
3Gain-
SNCA-
-
-
-
1Loss-
SNCAIP-
-
-
-
1Loss-
SNCG-
-
-
-
1Loss-
SND1-
-
-
-
1Loss-
SNED1-
-
-
-
1Loss-
SNHG28-
-
-
-
3Gain-
SNN-
-
-
-
3Gain-
SNORC-
-
-
-
1Loss-
SNPH-
-
-
-
1Loss-
SNRK-
-
-
-
1Loss-
SNRNP25-
-
-
-
1Loss-
SNRNP48-
-
-
-
3Gain-
SNRPA-
-
-
-
1Loss-
SNRPA1-
-
-
-
1Loss-
SNRPB-
-
-
-
1Loss-
SNRPB2-
-
-
-
1Loss-
SNRPD1-
-
-
-
6Amp-
SNRPD2-
-
-
-
1Loss-
SNRPF-
-
-
-
1Loss-
SNRPN-
-
-
-
1Loss-
SNTB2-
-
-
-
1Loss-
SNTN-
-
-
-
1Loss-
SNUPN-
-
-
-
1Loss-
SNURF-
-
-
-
1Loss-
SNX1-
-
-
-
1Loss-
SNX10-
-
-
-
1Loss-
SNX13-
-
-
-
3Gain-
SNX14-
-
-
-
1Loss-
SNX2-
-
-
-
1Loss-
SNX20-
-
-
-
1Loss-
SNX22-
-
-
-
1Loss-
SNX24-
-
-
-
1Loss-
SNX25-
-
-
-
1Loss-
SNX27-
-
-
-
3Gain-
SNX29-
-
-
-
3Gain-
SNX3-
-
-
-
1Loss-
SNX30-
-
-
-
3Gain-
SNX33-
-
-
-
1Loss-
SNX5-
-
-
-
1Loss-
SOAT1-
-
-
-
1Loss-
SOAT2-
-
-
-
1Loss-
SOBP-
-
-
-
1Loss-
SOCS1-
-
-
-
3Gain-
SOCS2-
-
-
-
1Loss-
SOCS6-
-
-
-
1Loss-
SOD2-
-
-
-
2-SOD2--RNA5-8SN2
SOD3-
-
-
-
1Loss-
SOGA3-
-
-
-
1Loss-
SOHLH2-
-
-
-
1Loss-
SORBS1-
-
-
-
1Loss-
SORBS2-
-
-
-
1Loss-
SORBS3-
-
-
-
1Loss-
SORCS1-
-
-
-
1Loss-
SORCS2-
-
-
-
1Loss-
SORCS3-
-
-
-
1Loss-
SORD-
-
-
-
1Loss-
SOSTDC1-
-
-
-
3Gain-
SOWAHA-
-
-
-
1Loss-
SOWAHB-
-
-
-
1Loss-
SOX12-
-
-
-
1Loss-
SOX15-
-
-
-
1Loss-
SOX18-
-
-
-
3Gain-
SOX30-
-
-
-
1Loss-
SOX4-
-
-
-
13Amp-
SOX6-
-
-
-
1Loss-
SOX7-
-
-
-
1Loss-
SOX8-
-
-
-
1Loss-
SP1-
-
-
-
1Loss-
SP100-
-
-
-
1Loss-
SP110-
-
-
-
1Loss-
SP140-
-
-
-
1Loss-
SP140L-
-
-
-
1Loss-
SP4-
-
-
-
3Gain-
SP7-
-
-
-
1Loss-
SP8-
-
-
-
3Gain-
SPACA1-
-
-
-
1Loss-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG16-
-
-
-
1Loss-
SPAG6-
-
-
-
5Amp-
SPAG7-
-
-
-
1Loss-
SPAM1-
-
-
-
1Loss-
SPARC-
-
-
-
1Loss-
SPARCL1-
-
-
-
1Loss-
SPART-
-
-
-
1Loss-
SPATA12-
-
-
-
1Loss-
SPATA13-
-
-
-
1Loss-
SPATA18-
-
-
-
3Gain-
SPATA21-
-
-
-
1Loss-
SPATA22-
-
-
-
1Loss-
SPATA24-
-
-
-
1Loss-
SPATA2L-
-
-
-
1Loss-
SPATA3-
-
-
-
1Loss-
SPATA31D1-
-
-
-
3Gain-
SPATA31D3-
-
-
-
3Gain-
SPATA31D4-
-
-
-
3Gain-
SPATA31E1-
-
-
-
3Gain-
SPATA33-
-
-
-
1Loss-
SPATA4-
-
-
-
1Loss-
SPATA48-
-
-
-
1Loss-
SPATA5L1-
-
-
-
1Loss-
SPATA8-
-
-
-
1Loss-
SPATA9-
-
-
-
1Loss-
SPATS2-
-
-
-
1Loss-
SPC24-
-
-
-
3Gain-
SPCS1-
-
-
-
1Loss-
SPCS3-
-
-
-
1Loss-
SPDL1-
-
-
-
1Loss-
SPDYE1-
-
-
-
1Loss-
SPDYE2-
-
-
-
1Loss-
SPDYE3-
-
-
-
1Loss-
SPDYE4-
-
-
-
1Loss-
SPDYE6-
-
-
-
1Loss-
SPECC1-
-
-
-
1Loss-
SPEF1-
-
-
-
1Loss-
SPEG-
-
-
-
1Loss-
SPEM1-
-
-
-
1Loss-
SPEM2-
-
-
-
1Loss-
SPEN-
-
-
-
1Loss-
SPERT-
-
-
-
1Loss-
SPESP1-
-
-
-
1Loss-
SPG11-
-
-
-
1Loss-
SPG21-
-
-
-
1Loss-
SPG7-
-
-
-
1Loss-
SPHKAP-
-
-
-
1Loss-
SPIC-
-
-
-
1Loss-
SPIN1-
-
-
-
3Gain-
SPINK1-
-
-
-
1Loss-
SPINK13-
-
-
-
1Loss-
SPINK14-
-
-
-
1Loss-
SPINK2-
-
-
-
3Gain-
SPINK5-
-
-
-
1Loss-
SPINK6-
-
-
-
1Loss-
SPINK7-
-
-
-
1Loss-
SPINK8-
-
-
-
1Loss-
SPINK9-
-
-
-
1Loss-
SPINT1-
-
-
-
1Loss-
SPINT2-
-
-
-
1Loss-
SPIRE2-
-
-
-
1Loss-
SPN-
-
-
-
3Gain-
SPNS1-
-
-
-
3Gain-
SPNS2-
-
-
-
1Loss-
SPNS3-
-
-
-
1Loss-
SPOCK1-
-
-
-
1Loss-
SPOCK2-
-
-
-
1Loss-
SPOCK3-
-
-
-
1Loss-
SPON1-
-
-
-
1Loss-
SPOPL-
-
-
-
1Loss-
SPP1-
-
-
-
1Loss-
SPP2-
-
-
-
1Loss-
SPPL2A-
-
-
-
1Loss-
SPPL2B-
-
-
-
1Loss-
SPRED1-
-
-
-
1Loss-
SPRED3-
-
-
-
1Loss-
SPRN-
-
-
-
1Loss-
SPRR1A-
-
-
-
3Gain-
SPRR1B-
-
-
-
3Gain-
SPRR3-
-
-
-
3Gain-
SPRR4-
-
-
-
3Gain-
SPRY4-
-
-
-
1Loss-
SPRYD3-
-
-
-
1Loss-
SPRYD4-
-
-
-
1Loss-
SPRYD7-
-
-
-
1Loss-
SPSB1-
-
-
-
1Loss-
SPSB2-
-
-
-
3Gain-
SPSB3-
-
-
-
1Loss-
SPTA1-
-
-
-
3Gain-
SPTBN4-
-
-
-
1Loss-
SPTBN5-
-
-
-
1Loss-
SPTLC1-
-
-
-
3Gain-
SPTLC3-
-
-
-
1Loss-
SPTY2D1-
-
-
-
1Loss-
SPZ1-
-
-
-
1Loss-
SQOR-
-
-
-
1Loss-
SRA1-
-
-
-
1Loss-
SRARP-
-
-
-
1Loss-
SRCAP-
-
-
-
3Gain-
SRD5A1-
-
-
-
1Loss-
SRD5A3-
-
-
-
3Gain-
SREBF1-
-
-
-
1Loss-
SREK1-
-
-
-
1Loss-
SREK1IP1-
-
-
-
1Loss-
SRFBP1-
-
-
-
1Loss-
SRGAP1-
-
-
-
1Loss-
SRGN-
-
-
-
1Loss-
SRL-
-
-
-
1Loss-
SRM-
-
-
-
1Loss-
SRMS-
-
-
-
3Gain-
SRP14-
-
-
-
1Loss-
SRP19-
-
-
-
1Loss-
SRP72-
-
-
-
3Gain-
SRPK2-
-
-
-
1Loss-
SRR-
-
-
-
1Loss-
SRRM1-
-
-
-
1Loss-
SRRM2-
-
-
-
1Loss-
SRRM5-
-
-
-
1Loss-
SRRT-
-
-
-
1Loss-
SRSF10-
-
-
-
1Loss-
SRSF12-
-
-
-
1Loss-
SRXN1-
-
-
-
1Loss-
SS18-
-
-
-
9Amp-
SS18L1-
-
-
-
3Gain-
SS18L2-
-
-
-
1Loss-
SSBP2-
-
-
-
1Loss-
SSBP4-
-
-
-
1Loss-
SSMEM1-
-
-
-
1Loss-
SSR1-
-
-
-
3Gain-
SSR2-
-
-
-
3Gain-
SSTR4-
-
-
-
1Loss-
SSTR5-
-
-
-
1Loss-
SSU72P2-
-
-
-
1Loss-
SSU72P3-
-
-
-
1Loss-
SSU72P4-
-
-
-
1Loss-
SSU72P8-
-
-
-
1Loss-
ST20-
-
-
-
1Loss-
ST20-MTHFS-
-
-
-
1Loss-
ST3GAL2-
-
-
-
1Loss-
ST5-
-
-
-
1Loss-
ST7-
-
-
-
1Loss-
ST8SIA2-
-
-
-
1Loss-
ST8SIA3-
-
-
-
1Loss-
ST8SIA4-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
ST8SIA6-
-
-
-
5Amp-
STAB1-
-
-
-
1Loss-
STAB2-
-
-
-
1Loss-
STAC-
-
-
-
1Loss-
STAC3-
-
-
-
1Loss-
STAG3-
-
-
-
1Loss-
STAM-
-
-
-
5Amp-
STAM2-
-
-
-
1Loss-
STAMBPL1-
-
-
-
1Loss-
STAP1-
-
-
-
1Loss-
STAP2-
-
-
-
1Loss-
STARD13-
-
-
-
0Del-
STARD3NL-
-
-
-
1Loss-
STARD4-
-
-
-
1Loss-
STARD5-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STARD9-
-
-
-
1Loss-
STAT2-
-
-
-
1Loss-
STAT6-
-
-
-
1Loss-
STATH-
-
-
-
1Loss-
STBD1-
-
-
-
1Loss-
STC1-
-
-
-
1Loss-
STC2-
-
-
-
1Loss-
STEAP1B-
-
-
-
1Loss-
STEAP3-
-
-
-
3Gain-
STIM1-
-
-
-
1Loss-
STIM2-
-
-
-
3Gain-
STIMATE-
-
-
-
1Loss-
STK10-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK11IP-
-
-
-
1Loss-
STK16-
-
-
-
1Loss-
STK17A-
-
-
-
1Loss-
STK25-
-
-
-
1Loss-
STK31-
-
-
-
1Loss-
STK32A-
-
-
-
1Loss-
STK32B-
-
-
-
1Loss-
STK32C-
-
-
-
1Loss-
STK33-
-
-
-
1Loss-
STK35-
-
-
-
1Loss-
STK36-
-
-
-
1Loss-
STMN1-
-
-
-
1Loss-
STMN3-
-
-
-
3Gain-
STMP1-
-
-
-
1Loss-
STN1-
-
-
-
1Loss-
STOML1-
-
-
-
1Loss-
STOML3-
-
-
-
1Loss-
STOX1-
-
-
-
1Loss-
STOX2-
-
-
-
1Loss-
STPG1-
-
-
-
1Loss-
STRA6-
-
-
-
1Loss-
STRA8-
-
-
-
1Loss-
STRADB-
-
-
-
1Loss-
STRC-
-
-
-
1Loss-
STRIP2-
-
-
-
1Loss-
STRN4-
-
-
-
1Loss-
STUB1-
-
-
-
1Loss-
STX10-
-
-
-
3Gain-
STX12-
-
-
-
1Loss-
STX17-
-
-
-
3Gain-
STX18-
-
-
-
1Loss-
STX1B-
-
-
-
3Gain-
STX4-
-
-
-
3Gain-
STX6-
-
-
-
1Loss-
STX8-
-
-
-
1Loss-
STXBP2-
-
-
-
3Gain-
SUB1-
-
-
-
1Loss-
SUCLA2-
-
-
-
1Loss-
SUCLG2-
-
-
-
1Loss-
SUFU-
-
-
-
1Loss-
SUGCT-
-
-
-
1Loss-
SUGP1-
-
-
-
1Loss-
SUGP2-
-
-
-
1Loss-
SULT1A1-
-
-
-
3Gain-
SULT1A2-
-
-
-
3Gain-
SULT1A3-
-
-
-
3Gain-
SULT1A4-
-
-
-
3Gain-
SULT1B1-
-
-
-
1Loss-
SULT1E1-
-
-
-
1Loss-
SUMO1-
-
-
-
1Loss-
SUN3-
-
-
-
1Loss-
SUOX-
-
-
-
1Loss-
SUPT20H-
-
-
-
1Loss-
SUPT3H-
-
-
-
1Loss-
SUPT5H-
-
-
-
1Loss-
SUPV3L1-
-
-
-
1Loss-
SUSD1-
-
-
-
3Gain-
SUSD3-
-
-
-
3Gain-
SUV39H2-
-
-
-
5Amp-
SV2A-
-
-
-
3Gain-
SV2B-
-
-
-
1Loss-
SV2C-
-
-
-
1Loss-
SVEP1-
-
-
-
3Gain-
SVIP-
-
-
-
1Loss-
SWAP70-
-
-
-
1Loss-
SWSAP1-
-
-
-
3Gain-
SYCE1-
-
-
-
1Loss-
SYCE1L-
-
-
-
1Loss-
SYCE2-
-
-
-
3Gain-
SYCN-
-
-
-
1Loss-
SYCP2L-
-
-
-
3Gain-
SYCP3-
-
-
-
1Loss-
SYDE1-
-
-
-
1Loss-
SYF2-
-
-
-
1Loss-
SYK-
-
-
-
3Gain-
SYMPK-
-
-
-
1Loss-
SYNCRIP-
-
-
-
1Loss-
SYNDIG1-
-
-
-
1Loss-
SYNE4-
-
-
-
1Loss-
SYNGR3-
-
-
-
1Loss-
SYNM-
-
-
-
1Loss-
SYNPO-
-
-
-
1Loss-
SYNPO2L-
-
-
-
1Loss-
SYNPR-
-
-
-
1Loss-
SYPL1-
-
-
-
1Loss-
SYT1-
-
-
-
1Loss-
SYT11-
-
-
-
3Gain-
SYT15-
-
-
-
1Loss-
SYT17-
-
-
-
3Gain-
SYT4-
-
-
-
1Loss-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
SYTL1-
-
-
-
1Loss-
SZRD1-
-
-
-
1Loss-
SZT2p.R283C
Missense
SNP
0.474
2--
TAC3-
-
-
-
1Loss-
TACC2-
-
-
-
1Loss-
TACR2-
-
-
-
1Loss-
TADA2B-
-
-
-
1Loss-
TAF10-
-
-
-
1Loss-
TAF1C-
-
-
-
1Loss-
TAF3-
-
-
-
5Amp-
TAF4-
-
-
-
3Gain-
TAF4B-
-
-
-
9Amp-
TAF5-
-
-
-
1Loss-
TAF6-
-
-
-
1Loss-
TAF7-
-
-
-
1Loss-
TAF9-
-
-
-
1Loss-
TAGLN2-
-
-
-
3Gain-
TAL2-
-
-
-
3Gain-
TALDO1-
-
-
-
1Loss-
TANC1-
-
-
-
1Loss-
TANGO2-
-
-
-
1Loss-
TANGO6-
-
-
-
1Loss-
TANK-
-
-
-
1Loss-
TAOK2-
-
-
-
3Gain-
TAPBPL-
-
-
-
3Gain-
TAPT1-
-
-
-
3Gain-
TARBP2-
-
-
-
1Loss-
TARDBP-
-
-
-
1Loss-
TARM1-
-
-
-
3Gain-
TARS2-
-
-
-
3Gain-
TARSL2-
-
-
-
1Loss-
TAS1R2-
-
-
-
1Loss-
TAS2R1-
-
-
-
1Loss-
TAS2R16-
-
-
-
1Loss-
TASP1-
-
-
-
1Loss-
TAT-
-
-
-
1Loss-
TAX1BP1-
-
-
-
1Loss-
TAX1BP3-
-
-
-
1Loss-
TBATA-
-
-
-
1Loss-
TBC1D1-
-
-
-
3Gain-
TBC1D10B-
-
-
-
3Gain-
TBC1D12-
-
-
-
1Loss-
TBC1D14-
-
-
-
1Loss-
TBC1D15-
-
-
-
1Loss-
TBC1D19-
-
-
-
3Gain-
TBC1D2-
-
-
-
3Gain-
TBC1D20-
-
-
-
1Loss-
TBC1D21-
-
-
-
1Loss-
TBC1D24-
-
-
-
1Loss-
TBC1D26-
-
-
-
1Loss-
TBC1D28-
-
-
-
1Loss-
TBC1D2B-
-
-
-
1Loss-
TBC1D30-
-
-
-
1Loss-
TBC1D32-
-
-
-
1Loss-
TBC1D7-
-
-
-
3Gain-
TBCA-
-
-
-
1Loss-
TBCB-
-
-
-
1Loss-
TBK1-
-
-
-
1Loss-
TBL3-
-
-
-
1Loss-
TBR1-
-
-
-
1Loss-
TBRG4-
-
-
-
1Loss-
TBX1-
-
-
-
1Loss-
TBX18-
-
-
-
1Loss-
TBX20-
-
-
-
1Loss-
TBX6-
-
-
-
3Gain-
TBXA2R-
-
-
-
1Loss-
TCAIM-
-
-
-
1Loss-
TCEA2-
-
-
-
3Gain-
TCEA3-
-
-
-
1Loss-
TCERG1-
-
-
-
1Loss-
TCERG1L-
-
-
-
1Loss-
TCF12-
-
-
-
1Loss-
TCF15-
-
-
-
1Loss-
TCF25-
-
-
-
1Loss-
TCF3-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCF7-
-
-
-
1Loss-
TCF7L2-
-
-
-
1Loss-
TCFL5-
-
-
-
3Gain-
TCHH-
-
-
-
5Amp-
TCHHL1-
-
-
-
3Gain-
TCOF1-
-
-
-
1Loss-
TCP11L2-
-
-
-
1Loss-
TCTA-
-
-
-
1Loss-
TCTN3-
-
-
-
1Loss-
TDG-
-
-
-
1Loss-
TDGF1-
-
-
-
1Loss-
TDP2-
-
-
-
7Amp-
TDRD1-
-
-
-
1Loss-
TDRD10-
-
-
-
3Gain-
TDRD12-
-
-
-
1Loss-
TDRD5-
-
-
-
1Loss-
TDRD6-
-
-
-
1Loss-
TDRD7-
-
-
-
3Gain-
TDRKH-
-
-
-
3Gain-
TDRP-
-
-
-
0Del-
TEAD1-
-
-
-
1Loss-
TEAD4-
-
-
-
3Gain-
TEC-
-
-
-
1Loss-
TECR-
-
-
-
1Loss-
TECRL-
-
-
-
1Loss-
TECTB-
-
-
-
1Loss-
TEDC2-
-
-
-
1Loss-
TEDDM1-
-
-
-
1Loss-
TEKT1-
-
-
-
1Loss-
TEKT3-
-
-
-
1Loss-
TEKT5-
-
-
-
3Gain-
TELO2-
-
-
-
1Loss-
TENM2-
-
-
-
1Loss-
TENM3-
-
-
-
1Loss-
TENT2-
-
-
-
1Loss-
TENT4A-
-
-
-
1Loss-
TENT4B-
-
-
-
1Loss-
TENT5A-
-
-
-
1Loss-
TENT5B-
-
-
-
1Loss-
TEPP-
-
-
-
1Loss-
TERB1-
-
-
-
1Loss-
TERB2-
-
-
-
1Loss-
TERF2-
-
-
-
1Loss-
TERF2IP-
-
-
-
1Loss-
TERT-
-
-
-
1Loss-
TES-
-
-
-
1Loss-
TESPA1-
-
-
-
1Loss-
TET1-
-
-
-
1Loss-
TEX10-
-
-
-
3Gain-
TEX101-
-
-
-
1Loss-
TEX26-
-
-
-
0Del-
TEX264-
-
-
-
1Loss-
TEX35-
-
-
-
1Loss-
TEX36-
-
-
-
1Loss-
TEX43-
-
-
-
1Loss-
TEX44-
-
-
-
1Loss-
TEX45-
-
-
-
3Gain-
TEX46-
-
-
-
1Loss-
TEX48-
-
-
-
3Gain-
TEX49-
-
-
-
1Loss-
TEX51-
-
-
-
3Gain-
TEX52-
-
-
-
3Gain-
TEX9-
-
-
-
1Loss-
TFAM-
-
-
-
1Loss-
TFAP2A-
-
-
-
3Gain-
TFAP2B-
-
-
-
1Loss-
TFAP2D-
-
-
-
1Loss-
TFAP4-
-
-
-
1Loss-
TFCP2-
-
-
-
1Loss-
TFCP2L1-
-
-
-
3Gain-
TFEC-
-
-
-
1Loss-
TFPT-
-
-
-
3Gain-
TFR2-
-
-
-
1Loss-
TGFB1-
-
-
-
1Loss-
TGFB1I1-
-
-
-
3Gain-
TGFBI-
-
-
-
1Loss-
TGFBR1-
-
-
-
3Gain-
TGFBR3L-
-
-
-
3Gain-
TGM3-
-
-
-
1Loss-
TGM4-
-
-
-
1Loss-
TGM5-
-
-
-
1Loss-
TGM6-
-
-
-
1Loss-
TGM7-
-
-
-
1Loss-
TH-
-
-
-
1Loss-
THAP10-
-
-
-
1Loss-
THAP11-
-
-
-
1Loss-
THAP2-
-
-
-
1Loss-
THAP4-
-
-
-
1Loss-
THAP5-
-
-
-
1Loss-
THAP6-
-
-
-
1Loss-
THAP8-
-
-
-
1Loss-
THAP9-
-
-
-
1Loss-
THBD-
-
-
-
1Loss-
THBS1-
-
-
-
1Loss-
THBS3-
-
-
-
3Gain-
THBS4-
-
-
-
1Loss-
THEG-
-
-
-
1Loss-
THEGL-
-
-
-
3Gain-
THEM4-
-
-
-
3Gain-
THEM5-
-
-
-
3Gain-
THEMIS-
-
-
-
1Loss-
THEMIS2-
-
-
-
1Loss-
THG1L-
-
-
-
1Loss-
THNSL1-
-
-
-
5Amp-
THOC6-
-
-
-
1Loss-
THOC7-
-
-
-
1Loss-
THOP1-
-
-
-
1Loss-
THSD1-
-
-
-
1Loss-
THSD4-
-
-
-
1Loss-
THSD7A-
-
-
-
3Gain-
THSD7B-
-
-
-
1Loss-
THUMPD1-
-
-
-
3Gain-
TIAL1-
-
-
-
1Loss-
TICAM1-
-
-
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1Loss-
TICRR-
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1Loss-
TIFAB-
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1Loss-
TIGAR-
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3Gain-
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TIGD6-
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TIGD7-
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1Loss-
TIMD4-
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1Loss-
TIMELESS-
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1Loss-
TIMM10B-
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1Loss-
TIMM13-
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TIMM21-
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1Loss-
TIMM22-
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1Loss-
TIMM23B-
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TIMM29-
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3Gain-
TIMM44-
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3Gain-
TIMM50-
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1Loss-
TINAG-
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1Loss-
TIPIN-
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1Loss-
TJP1-
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1Loss-
TJP2-
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3Gain-
TJP3-
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1Loss-
TK2-
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1Loss-
TKT-
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1Loss-
TLCD2-
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1Loss-
TLDC1-
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1Loss-
TLE1-
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3Gain-
TLE2-
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TLE3-
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TLE4-
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TLE7-
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1Loss-
TLN2-
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1Loss-
TLNRD1-
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1Loss-
TLR1-
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3Gain-
TLR10-
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3Gain-
TLR3-
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1Loss-
TLR6-
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3Gain-
TLR9-
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1Loss-
TLX1-
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1Loss-
TLX3-
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1Loss-
TM2D3-
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1Loss-
TM4SF20-
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1Loss-
TM4SF5-
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1Loss-
TM6SF1-
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1Loss-
TM6SF2-
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1Loss-
TM9SF3-
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1Loss-
TMA7-
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1Loss-
TMBIM1-
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1Loss-
TMBIM4-
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1Loss-
TMBIM6-
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1Loss-
TMC1-
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3Gain-
TMC2-
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1Loss-
TMC3-
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1Loss-
TMC4-
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3Gain-
TMC5-
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3Gain-
TMC7-
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3Gain-
TMCC3-
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1Loss-
TMCO4-
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1Loss-
TMCO5A-
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1Loss-
TMCO6-
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1Loss-
TMED1-
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3Gain-
TMED3-
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1Loss-
TMED4-
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1Loss-
TMED6-
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1Loss-
TMED7-
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1Loss-
TMED7-TICAM2-
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1Loss-
TMEFF1-
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3Gain-
TMEM102-
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1Loss-
TMEM106B-
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3Gain-
TMEM106C-
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1Loss-
TMEM107-
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1Loss-
TMEM11-
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1Loss-
TMEM110-MUSTN1-
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1Loss-
TMEM114-
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3Gain-
TMEM115-
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1Loss-
TMEM117-
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1Loss-
TMEM121B-
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1Loss-
TMEM128-
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1Loss-
TMEM130-
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1Loss-
TMEM140-
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1Loss-
TMEM145-
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1Loss-
TMEM147-
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1Loss-
TMEM14A-
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1Loss-
TMEM14B-
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3Gain-
TMEM14C-
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3Gain-
TMEM150C-
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1Loss-
TMEM156-
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3Gain-
TMEM158-
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1Loss-
TMEM159-
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3Gain-
TMEM161A-
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1Loss-
TMEM161B-
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1Loss-
TMEM163-
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1Loss-
TMEM165-
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3Gain-
TMEM167A-
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1Loss-
TMEM168-
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1Loss-
TMEM169-
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1Loss-
TMEM170A-
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1Loss-
TMEM170B-
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3Gain-
TMEM171-
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1Loss-
TMEM173-
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1Loss-
TMEM174-
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1Loss-
TMEM177-
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3Gain-
TMEM185B-
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3Gain-
TMEM186-
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3Gain-
TMEM19-
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1Loss-
TMEM196-
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3Gain-
TMEM198-
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1Loss-
TMEM201-
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1Loss-
TMEM202-
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1Loss-
TMEM204-
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1Loss-
TMEM205-
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3Gain-
TMEM208-
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1Loss-
TMEM209-
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1Loss-
TMEM219-
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3Gain-
TMEM220-
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1Loss-
TMEM221-
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1Loss-
TMEM222-
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1Loss-
TMEM225B-
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1Loss-
TMEM229A-
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1Loss-
TMEM230-
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1Loss-
TMEM231-
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1Loss-
TMEM232-
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1Loss-
TMEM236-
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5Amp-
TMEM237-
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1Loss-
TMEM239-
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1Loss-
TMEM241-
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7Amp-
TMEM245-
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3Gain-
TMEM246-
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3Gain-
TMEM252-
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3Gain-
TMEM254-
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1Loss-
TMEM256-
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1Loss-
TMEM256-PLSCR3-
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1Loss-
TMEM259-
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1Loss-
TMEM26-
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1Loss-
TMEM263-
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1Loss-
TMEM266-
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1Loss-
TMEM268-
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3Gain-
TMEM272-
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1Loss-
TMEM273-
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1Loss-
TMEM30A-
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3Gain-
TMEM33-
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1Loss-
TMEM37-
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3Gain-
TMEM38A-
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1Loss-
TMEM38B-
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3Gain-
TMEM41B-
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1Loss-
TMEM42-
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1Loss-
TMEM50A-
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1Loss-
TMEM51-
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1Loss-
TMEM59L-
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1Loss-
TMEM62-
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1Loss-
TMEM74B-
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1Loss-
TMEM79-
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3Gain-
TMEM80-
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1Loss-
TMEM82-
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1Loss-
TMEM86A-
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1Loss-
TMEM87A-
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1Loss-
TMEM88-
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1Loss-
TMEM89-
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1Loss-
TMEM8A-
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1Loss-
TMEM91-
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1Loss-
TMEM95-
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1Loss-
TMEM9B-
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1Loss-
TMF1-
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1Loss-
TMIE-
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1Loss-
TMIGD2-
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1Loss-
TMOD1-
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3Gain-
TMOD2-
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1Loss-
TMOD3-
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1Loss-
TMOD4-
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3Gain-
TMPO-
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1Loss-
TMPRSS11A-
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1Loss-
TMPRSS11B-
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1Loss-
TMPRSS11D-
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1Loss-
TMPRSS11E-
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1Loss-
TMPRSS11F-
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1Loss-
TMPRSS12-
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1Loss-
TMPRSS9-
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1Loss-
TMTC2-
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1Loss-
TMTC3-
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1Loss-
TMX3-
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1Loss-
TMX4-
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1Loss-
TNC-
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3Gain-
TNFAIP6-
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1Loss-
TNFAIP8-
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1Loss-
TNFAIP8L1-
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1Loss-
TNFAIP8L2-
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3Gain-
TNFAIP8L3-
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1Loss-
TNFRSF10A-
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1Loss-
TNFRSF10B-
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1Loss-
TNFRSF10C-
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1Loss-
TNFRSF10D-
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1Loss-
TNFRSF11A-
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1Loss-
TNFRSF12A-
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1Loss-
TNFRSF13B-
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1Loss-
TNFRSF17-
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3Gain-
TNFRSF19-
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1Loss-
TNFRSF1A-
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3Gain-
TNFRSF1B-
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1Loss-
TNFRSF21-
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1Loss-
TNFRSF6B-
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3Gain-
TNFRSF8-
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1Loss-
TNFSF11-
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1Loss-
TNFSF12-
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1Loss-
TNFSF12-TNFSF13-
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1Loss-
TNFSF13-
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1Loss-
TNFSF14-
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3Gain-
TNFSF15-
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3Gain-
TNFSF8-
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3Gain-
TNFSF9-
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1Loss-
TNIP1-
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1Loss-
TNIP2-
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1Loss-
TNK1-
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1Loss-
TNKS-
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1Loss-
TNKS2-
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1Loss-
TNNC1-
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1Loss-
TNNI2-
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1Loss-
TNNT3-
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1Loss-
TNP1-
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1Loss-
TNP2-
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3Gain-
TNPO1-
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1Loss-
TNPO2-
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3Gain-
TNPO3-
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1Loss-
TNR-
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1Loss-
TNRC6A-
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3Gain-
TNS1-
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1Loss-
TNS2-
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1Loss-
TNS3-
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1Loss-
TOLLIP-
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1Loss-
TOM1L2-
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1Loss-
TOMM40-
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1Loss-
TOMM7-
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1Loss-
TOP3A-
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1Loss-
TOPAZ1-
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1Loss-
TOR1AIP1-
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1Loss-
TOR1AIP2-
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1Loss-
TOR3A-
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1Loss-
TOX3-
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1Loss-
TP53-
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1Loss-
TP53BP1-
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1Loss-
TPBG-
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1Loss-
TPD52L1-
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1Loss-
TPD52L2-
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3Gain-
TPGS1-
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1Loss-
TPGS2-
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1Loss-
TPH1-
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1Loss-
TPH2-
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1Loss-
TPI1-
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3Gain-
TPM1-
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1Loss-
TPM3-
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3Gain-
TPM4-
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1Loss-
TPP1-
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1Loss-
TPPP-
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1Loss-
TPPP3-
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1Loss-
TPSAB1-
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1Loss-
TPSB2-
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1Loss-
TPSD1-
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1Loss-
TPSG1-
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1Loss-
TPT1-
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1Loss-
TPTE2-
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1Loss-
TRA2A-
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1Loss-
TRADD-
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1Loss-
TRAF3IP1-
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1Loss-
TRAF3IP2-
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1Loss-
TRAF7-
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1Loss-
TRAIP-
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1Loss-
TRAK1-
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1Loss-
TRAK2-
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1Loss-
TRAM2-
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1Loss-
TRANK1-
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1Loss-
TRAP1-
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1Loss-
TRAPPC1-
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1Loss-
TRAPPC11-
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1Loss-
TRAPPC13-
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1Loss-
TRAPPC2L-
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1Loss-
TRAPPC3L-
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1Loss-
TRAPPC5-
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3Gain-
TRAPPC6A-
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1Loss-
TRAPPC8-
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1Loss-
TRARG1-
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1Loss-
TRDMT1-
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5Amp-
TRDN-
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1Loss-
TREX1-
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1Loss-
TRHDE-
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1Loss-
TRIB3-
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1Loss-
TRIL-
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1Loss-
TRIM13-
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1Loss-
TRIM14-
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3Gain-
TRIM16-
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1Loss-
TRIM16L-
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1Loss-
TRIM21-
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1Loss-
TRIM22-
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1Loss-
TRIM23-
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1Loss-
TRIM28-
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3Gain-
TRIM3-
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1Loss-
TRIM36-
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1Loss-
TRIM4-
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1Loss-
TRIM46-
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3Gain-
TRIM5-
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1Loss-
TRIM56-
-
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1Loss-
TRIM6-
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1Loss-
TRIM6-TRIM34-
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1Loss-
TRIM63-
-
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-
1Loss-
TRIM66-
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-
1Loss-
TRIM68-
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1Loss-
TRIM69-
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1Loss-
TRIM72-
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3Gain-
TRIM8-
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1Loss-
TRIML1-
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1Loss-
TRIML2-
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1Loss-
TRIO-
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3Gain-
TRIP10-
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3Gain-
TRIP12-
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1Loss-
TRIP13-
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1Loss-
TRIP4-
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1Loss-
TRIP6-
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1Loss-
TRIR-
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3Gain-
TRMO-
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3Gain-
TRMT1-
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3Gain-
TRMT11-
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-
1Loss-
TRMT2A-
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-
1Loss-
TRMT44-
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-
1Loss-
TRMT6-
-
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-
1Loss-
TRMT9B-
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-
1Loss-
TRNP1-
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-
1Loss-
TROAP-
-
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-
1Loss-
TRPC4-
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-
1Loss-
TRPC7-
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-
1Loss-
TRPM1-
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-
1Loss-
TRPM3-
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3Gain-
TRPM5-
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-
1Loss-
TRPM6-
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3Gain-
TRPM7-
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-
1Loss-
TRPM8-
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-
1Loss-
TRPV1-
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1Loss-
TRPV2-
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-
1Loss-
TRPV3-
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-
1Loss-
TRRAP-
-
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-
1Loss-
TRUB1-
-
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-
1Loss-
TSACC-
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-
3Gain-
TSC2-
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-
-
1Loss-
TSC22D1-
-
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-
1Loss-
TSC22D4-
-
-
-
1Loss-
TSEN34-
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-
-
3Gain-
TSFM-
-
-
-
1Loss-
TSG101-
-
-
-
1Loss-
TSGA13-
-
-
-
1Loss-
TSHZ1-
-
-
-
1Loss-
TSHZ3-
-
-
-
1Loss-
TSLP-
-
-
-
1Loss-
TSN-
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-
-
3Gain-
TSNAXIP1-
-
-
-
1Loss-
TSPAN12-
-
-
-
1Loss-
TSPAN13-
-
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-
3Gain-
TSPAN14-
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-
1Loss-
TSPAN15-
-
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-
1Loss-
TSPAN16-
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3Gain-
TSPAN19-
-
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-
1Loss-
TSPAN3-
-
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-
1Loss-
TSPAN31-
-
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-
1Loss-
TSPAN32-
-
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-
1Loss-
TSPAN33-
-
-
-
1Loss-
TSPAN4-
-
-
-
1Loss-
TSPAN8-
-
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-
1Loss-
TSPAN9-
-
-
-
3Gain-
TSPYL1-
-
-
-
1Loss-
TSPYL4-
-
-
-
1Loss-
TSR1-
-
-
-
1Loss-
TSR3-
-
-
-
1Loss-
TSSC4-
-
-
-
1Loss-
TSSK1B-
-
-
-
1Loss-
TSSK2-
-
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-
1Loss-
TSSK6-
-
-
-
1Loss-
TSTD2-
-
-
-
3Gain-
TSTD3-
-
-
-
1Loss-
TTBK2-
-
-
-
1Loss-
TTC1-
-
-
-
1Loss-
TTC19-
-
-
-
1Loss-
TTC21A-
-
-
-
1Loss-
TTC21B-
-
-
-
1Loss-
TTC23-
-
-
-
1Loss-
TTC24-
-
-
-
3Gain-
TTC37-
-
-
-
1Loss-
TTC39B-
-
-
-
1Loss-
TTC39C-
-
-
-
9Amp-
TTC9B-
-
-
-
1Loss-
TTK-
-
-
-
1Loss-
TTLL13P-
-
-
-
1Loss-
TTLL4-
-
-
-
1Loss-
TTR-
-
-
-
1Loss-
TTYH1-
-
-
-
3Gain-
TUB-
-
-
-
1Loss-
TUBA1A-
-
-
-
1Loss-
TUBA1B-
-
-
-
1Loss-
TUBA1C-
-
-
-
1Loss-
TUBA3C-
-
-
-
1Loss-
TUBA3D-
-
-
-
3Gain-
TUBA3E-
-
-
-
3Gain-
TUBA4A-
-
-
-
1Loss-
TUBA4B-
-
-
-
1Loss-
TUBA8-
-
-
-
1Loss-
TUBAL3-
-
-
-
5Amp-
TUBB2A-
-
-
-
5Amp-
TUBB2B-
-
-
-
5Amp-
TUBB3-
-
-
-
1Loss-
TUBB4A-
-
-
-
1Loss-
TUBB8-
-
-
-
5Amp-
TUBE1-
-
-
-
1Loss-
TUBGCP2-
-
-
-
1Loss-
TUBGCP4-
-
-
-
1Loss-
TUBGCP5-
-
-
-
3Gain-
TUFM-
-
-
-
3Gain-
TUFT1-
-
-
-
3Gain-
TULP3-
-
-
-
3Gain-
TUSC2-
-
-
-
1Loss-
TUSC3-
-
-
-
1Loss-
TUT7-
-
-
-
3Gain-
TVP23A-
-
-
-
3Gain-
TVP23B-
-
-
-
1Loss-
TVP23C-
-
-
-
1Loss-
TVP23C-CDRT4-
-
-
-
1Loss-
TWF1-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TWIST1-
-
-
-
3Gain-
TWIST2-
-
-
-
1Loss-
TWISTNB-
-
-
-
3Gain-
TWNK-
-
-
-
1Loss-
TXK-
-
-
-
1Loss-
TXN-
-
-
-
3Gain-
TXNDC11-
-
-
-
3Gain-
TXNDC15-
-
-
-
1Loss-
TXNDC17-
-
-
-
1Loss-
TXNDC5-
-
-
-
3Gain-
TXNDC8-
-
-
-
3Gain-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNL4B-
-
-
-
1Loss-
TXNRD1-
-
-
-
1Loss-
TXNRD2-
-
-
-
1Loss-
TYK2-
-
-
-
3Gain-
TYRO3-
-
-
-
1Loss-
TYROBP-
-
-
-
1Loss-
TYSND1-
-
-
-
1Loss-
U2AF1L4-
-
-
-
1Loss-
UACA-
-
-
-
1Loss-
UBA2-
-
-
-
1Loss-
UBA3-
-
-
-
1Loss-
UBA52-
-
-
-
1Loss-
UBA6-
-
-
-
1Loss-
UBA7-
-
-
-
1Loss-
UBALD1-
-
-
-
1Loss-
UBAP1L-
-
-
-
1Loss-
UBAP2L-
-
-
-
3Gain-
UBB-
-
-
-
1Loss-
UBE2B-
-
-
-
1Loss-
UBE2D1-
-
-
-
1Loss-
UBE2D2-
-
-
-
1Loss-
UBE2D4-
-
-
-
1Loss-
UBE2F-
-
-
-
1Loss-
UBE2F-SCLY-
-
-
-
1Loss-
UBE2G1-
-
-
-
1Loss-
UBE2H-
-
-
-
1Loss-
UBE2I-
-
-
-
1Loss-
UBE2J1-
-
-
-
1Loss-
UBE2K-
-
-
-
3Gain-
UBE2M-
-
-
-
3Gain-
UBE2N-
-
-
-
1Loss-
UBE2Q1-
-
-
-
3Gain-
UBE2Q2-
-
-
-
1Loss-
UBE2Q2L-
-
-
-
1Loss-
UBE2QL1-
-
-
-
1Loss-
UBE3A-
-
-
-
1Loss-
UBE3D-
-
-
-
1Loss-
UBE4B-
-
-
-
1Loss-
UBFD1-
-
-
-
3Gain-
UBIAD1-
-
-
-
1Loss-
UBL3-
-
-
-
1Loss-
UBL5-
-
-
-
3Gain-
UBL7-
-
-
-
1Loss-
UBLCP1-
-
-
-
1Loss-
UBN1-
-
-
-
1Loss-
UBOX5-
-
-
-
1Loss-
UBQLN1-
-
-
-
3Gain-
UBQLN3-
-
-
-
1Loss-
UBQLN4-
-
-
-
3Gain-
UBQLNL-
-
-
-
1Loss-
UBR1-
-
-
-
1Loss-
UBR4-
-
-
-
1Loss-
UBTD1-
-
-
-
1Loss-
UBTD2-
-
-
-
1Loss-
UBXN10-
-
-
-
1Loss-
UBXN11-
-
-
-
1Loss-
UBXN4-
-
-
-
1Loss-
UBXN6-
-
-
-
1Loss-
UCHL1-
-
-
-
1Loss-
UCKL1-
-
-
-
3Gain-
UCMA-
-
-
-
5Amp-
UCN2-
-
-
-
1Loss-
UCN3-
-
-
-
5Amp-
UEVLD-
-
-
-
1Loss-
UFD1-
-
-
-
1Loss-
UFL1-
-
-
-
1Loss-
UFM1-
-
-
-
1Loss-
UFSP1-
-
-
-
1Loss-
UFSP2-
-
-
-
1Loss-
UGCG-
-
-
-
3Gain-
UGDH-
-
-
-
3Gain-
UGGT1-
-
-
-
3Gain-
UGT1A1-
-
-
-
1Loss-
UGT1A10-
-
-
-
1Loss-
UGT1A3-
-
-
-
1Loss-
UGT1A4-
-
-
-
1Loss-
UGT1A5-
-
-
-
1Loss-
UGT1A6-
-
-
-
1Loss-
UGT1A7-
-
-
-
1Loss-
UGT1A8-
-
-
-
1Loss-
UGT1A9-
-
-
-
1Loss-
UGT2A1-
-
-
-
1Loss-
UGT2A2-
-
-
-
1Loss-
UGT2A3-
-
-
-
1Loss-
UGT2B10-
-
-
-
1Loss-
UGT2B11-
-
-
-
1Loss-
UGT2B15-
-
-
-
1Loss-
UGT2B17-
-
-
-
1Loss-
UGT2B28-
-
-
-
1Loss-
UGT2B4-
-
-
-
1Loss-
UGT2B7-
-
-
-
1Loss-
UHRF1-
-
-
-
1Loss-
UHRF1BP1L-
-
-
-
1Loss-
ULK2-
-
-
-
1Loss-
ULK3-
-
-
-
1Loss-
ULK4-
-
-
-
1Loss-
UMAD1-
-
-
-
3Gain-
UMOD-
-
-
-
3Gain-
UNC13A-
-
-
-
1Loss-
UNC13C-
-
-
-
1Loss-
UNC45A-
-
-
-
1Loss-
UNC5B-
-
-
-
1Loss-
UNC80-
-
-
-
1Loss-
UNKL-
-
-
-
1Loss-
UPF1-
-
-
-
1Loss-
UPF2-
-
-
-
5Amp-
UPK1A-
-
-
-
1Loss-
UPK3BL1-
-
-
-
1Loss-
UPP1-
-
-
-
1Loss-
UPP2-
-
-
-
1Loss-
UQCR11-
-
-
-
1Loss-
UQCRC1-
-
-
-
1Loss-
UQCRC2-
-
-
-
3Gain-
UQCRFS1-
-
-
-
1Loss-
UQCRHL-
-
-
-
1Loss-
UQCRQ-
-
-
-
1Loss-
URAD-
-
-
-
1Loss-
URGCP-
-
-
-
1Loss-
URGCP-MRPS24-
-
-
-
1Loss-
URI1-
-
-
-
1Loss-
UROC1p.V219I
Missense
SNP
0.447
2--
UROS-
-
-
-
1Loss-
USB1-
-
-
-
1Loss-
USE1-
-
-
-
1Loss-
USF2-
-
-
-
1Loss-
USH1C-
-
-
-
1Loss-
USHBP1-
-
-
-
1Loss-
USO1-
-
-
-
1Loss-
USP10-
-
-
-
1Loss-
USP12-
-
-
-
1Loss-
USP15-
-
-
-
1Loss-
USP17L13-
-
-
-
1Loss-
USP17L15-
-
-
-
1Loss-
USP17L17-
-
-
-
1Loss-
USP17L18-
-
-
-
1Loss-
USP17L24-
-
-
-
1Loss-
USP17L25-
-
-
-
1Loss-
USP17L26-
-
-
-
1Loss-
USP17L27-
-
-
-
1Loss-
USP17L28-
-
-
-
1Loss-
USP17L29-
-
-
-
1Loss-
USP17L30-
-
-
-
1Loss-
USP17L5-
-
-
-
1Loss-
USP17L7-
-
-
-
1Loss-
USP18-
-
-
-
1Loss-
USP19-
-
-
-
1Loss-
USP22-
-
-
-
1Loss-
USP3-
-
-
-
1Loss-
USP31-
-
-
-
3Gain-
USP32p.E1052Q
Missense
SNP
0.495
2--
USP37-
-
-
-
1Loss-
USP4-
-
-
-
1Loss-
USP40-
-
-
-
1Loss-
USP41-
-
-
-
1Loss-
USP42-
-
-
-
3Gain-
USP43-
-
-
-
1Loss-
USP44-
-
-
-
1Loss-
USP45-
-
-
-
1Loss-
USP46-
-
-
-
3Gain-
USP47-
-
-
-
1Loss-
USP48-
-
-
-
1Loss-
USP5-
-
-
-
3Gain-
USP50-
-
-
-
1Loss-
USP54-
-
-
-
1Loss-
USP6-
-
-
-
1Loss-
USP6NL-
-
-
-
5Amp-
USP7-
-
-
-
3Gain-
USP8-
-
-
-
1Loss-
USPL1-
-
-
-
1Loss-
UTF1-
-
-
-
1Loss-
UTP14C-
-
-
-
1Loss-
UTP15-
-
-
-
1Loss-
UTP20-
-
-
-
1Loss-
UTP3-
-
-
-
1Loss-
UTP4-
-
-
-
1Loss-
VAC14-
-
-
-
1Loss-
VAMP1-
-
-
-
3Gain-
VAMP2-
-
-
-
1Loss-
VANGL2-
-
-
-
3Gain-
VASN-
-
-
-
1Loss-
VASP-
-
-
-
1Loss-
VAT1L-
-
-
-
1Loss-
VAV1-
-
-
-
3Gain-
VAX1-
-
-
-
1Loss-
VCAN-
-
-
-
1Loss-
VCL-
-
-
-
1Loss-
VDAC1-
-
-
-
1Loss-
VDAC2-
-
-
-
3Gain-
VDR-
-
-
-
1Loss-
VEGFC-
-
-
-
1Loss-
VEZT-
-
-
-
1Loss-
VGF-
-
-
-
1Loss-
VGLL2-
-
-
-
1Loss-
VGLL3-
-
-
-
1Loss-
VHLL-
-
-
-
3Gain-
VIL1-
-
-
-
1Loss-
VILL-
-
-
-
1Loss-
VIM-
-
-
-
5Amp-
VIPR1-
-
-
-
1Loss-
VKORC1-
-
-
-
3Gain-
VMAC-
-
-
-
1Loss-
VMO1-
-
-
-
1Loss-
VN1R2-
-
-
-
3Gain-
VN1R4-
-
-
-
3Gain-
VPS13A-
-
-
-
3Gain-
VPS13C-
-
-
-
1Loss-
VPS13D-
-
-
-
1Loss-
VPS16-
-
-
-
1Loss-
VPS18-
-
-
-
1Loss-
VPS26A-
-
-
-
1Loss-
VPS33B-
-
-
-
1Loss-
VPS35-
-
-
-
1Loss-
VPS35L-
-
-
-
3Gain-
VPS36-
-
-
-
1Loss-
VPS37A-
-
-
-
1Loss-
VPS39-
-
-
-
1Loss-
VPS41-
-
-
-
1Loss-
VPS45-
-
-
-
3Gain-
VPS4A-
-
-
-
1Loss-
VPS4B-
-
-
-
1Loss-
VPS53-
-
-
-
1Loss-
VPS72-
-
-
-
3Gain-
VPS9D1-
-
-
-
1Loss-
VSIG8-
-
-
-
3Gain-
VSIR-
-
-
-
1Loss-
VSTM1-
-
-
-
3Gain-
VSTM2B-
-
-
-
1Loss-
VSTM4-
-
-
-
1Loss-
VSX1-
-
-
-
1Loss-
VTI1A-
-
-
-
1Loss-
VWA2-
-
-
-
1Loss-
VWA3A-
-
-
-
3Gain-
VWA5B1-
-
-
-
1Loss-
VWA8-
-
-
-
1Loss-
VWC2-
-
-
-
1Loss-
VWC2L-
-
-
-
1Loss-
VWDE-
-
-
-
3Gain-
VWF-
-
-
-
3Gain-
WAPL-
-
-
-
1Loss-
WASF1-
-
-
-
1Loss-
WASF2-
-
-
-
1Loss-
WASF3-
-
-
-
1Loss-
WASHC2A-
-
-
-
1Loss-
WASHC3-
-
-
-
1Loss-
WASHC4-
-
-
-
1Loss-
WASL-
-
-
-
1Loss-
WBP1L-
-
-
-
1Loss-
WBP4-
-
-
-
1Loss-
WDFY1-
-
-
-
1Loss-
WDFY2-
-
-
-
1Loss-
WDFY3-
-
-
-
1Loss-
WDFY4-
-
-
-
1Loss-
WDR1-
-
-
-
1Loss-
WDR11-
-
-
-
1Loss-
WDR12-
-
-
-
1Loss-
WDR17-
-
-
-
1Loss-
WDR18-
-
-
-
1Loss-
WDR19-
-
-
-
3Gain-
WDR24-
-
-
-
1Loss-
WDR31-
-
-
-
3Gain-
WDR33-
-
-
-
3Gain-
WDR36-
-
-
-
1Loss-
WDR37-
-
-
-
5Amp-
WDR41-
-
-
-
1Loss-
WDR48-
-
-
-
1Loss-
WDR55-
-
-
-
1Loss-
WDR59-
-
-
-
1Loss-
WDR6-
-
-
-
1Loss-
WDR61-
-
-
-
1Loss-
WDR62-
-
-
-
1Loss-
WDR7-
-
-
-
1Loss-
WDR72-
-
-
-
1Loss-
WDR73-
-
-
-
1Loss-
WDR76-
-
-
-
1Loss-
WDR81-
-
-
-
1Loss-
WDR82-
-
-
-
1Loss-
WDR83-
-
-
-
3Gain-
WDR83OS-
-
-
-
3Gain-
WDR87-
-
-
-
1Loss-
WDR88-
-
-
-
1Loss-
WDR90-
-
-
-
1Loss-
WDR91-
-
-
-
1Loss-
WDR93-
-
-
-
1Loss-
WDSUB1-
-
-
-
1Loss-
WDTC1-
-
-
-
1Loss-
WEE1-
-
-
-
1Loss-
WFDC1-
-
-
-
1Loss-
WFIKKN1-
-
-
-
1Loss-
WFS1-
-
-
-
1Loss-
WHAMM-
-
-
-
1Loss-
WHRN-
-
-
-
3Gain-
WIF1-
-
-
-
1Loss-
WIPF3-
-
-
-
1Loss-
WISP3-
-
-
-
1Loss-
WIZ-
-
-
-
1Loss-
WNK1-
-
-
-
3Gain-
WNK2-
-
-
-
3Gain-
WNT1-
-
-
-
1Loss-
WNT10A-
-
-
-
1Loss-
WNT10B-
-
-
-
1Loss-
WNT16-
-
-
-
1Loss-
WNT2-
-
-
-
1Loss-
WNT4-
-
-
-
1Loss-
WNT5A-
-
-
-
1Loss-
WNT5B-
-
-
-
3Gain-
WNT6-
-
-
-
1Loss-
WNT8A-
-
-
-
1Loss-
WNT8B-
-
-
-
1Loss-
WRAP53-
-
-
-
1Loss-
WRNIP1-
-
-
-
5Amp-
WSCD1-
-
-
-
1Loss-
WTIP-
-
-
-
1Loss-
WWC1-
-
-
-
1Loss-
WWC2-
-
-
-
1Loss-
WWOX-
-
-
-
1Loss-
WWP2-
-
-
-
1Loss-
XAB2-
-
-
-
3Gain-
XAF1-
-
-
-
1Loss-
XCR1-
-
-
-
1Loss-
XIRP1-
-
-
-
1Loss-
XKR3-
-
-
-
1Loss-
XKR5-
-
-
-
1Loss-
XKR6-
-
-
-
1Loss-
XKR8-
-
-
-
1Loss-
XPA-
-
-
-
3Gain-
XPNPEP1-
-
-
-
1Loss-
XPO4-
-
-
-
1Loss-
XPO6-
-
-
-
3Gain-
XPO7-
-
-
-
1Loss-
XPOT-
-
-
-
1Loss-
XPR1-
-
-
-
1Loss-
XRCC1-
-
-
-
1Loss-
XRCC4-
-
-
-
1Loss-
XRCC5-
-
-
-
1Loss-
XRN2-
-
-
-
1Loss-
XYLB-
-
-
-
1Loss-
XYLT1-
-
-
-
3Gain-
YAE1-
-
-
-
1Loss-
YAF2-
-
-
-
1Loss-
YBX2-
-
-
-
1Loss-
YEATS4-
-
-
-
1Loss-
YIF1B-
-
-
-
1Loss-
YIPF2-
-
-
-
3Gain-
YIPF5-
-
-
-
1Loss-
YIPF7-
-
-
-
1Loss-
YJEFN3-
-
-
-
1Loss-
YJU2-
-
-
-
1Loss-
YKT6-
-
-
-
1Loss-
YPEL3-
-
-
-
3Gain-
YTHDC1-
-
-
-
1Loss-
YTHDC2-
-
-
-
1Loss-
YTHDF1-
-
-
-
3Gain-
YWHAE-
-
-
-
1Loss-
YY1AP1-
-
-
-
3Gain-
Z84488.2-
-
-
-
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ZNF528-
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3Gain-
ZNF559-ZNF177-
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3Gain-
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3Gain-
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3Gain-
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ZNF600-
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3Gain-
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3Gain-
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Nonsense
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-
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-
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-
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-
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-
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-
3Gain-
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-
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-
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3Gain-
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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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-
3Gain-
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-
3Gain-
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-
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-
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-
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-
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-
3Gain-
ZNF837-
-
-
-
3Gain-
ZNF841-
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-
-
3Gain-
ZNF843-
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-
-
3Gain-
ZNF844-
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-
-
3Gain-
ZNF845-
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-
3Gain-
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-
3Gain-
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-
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-
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-
3Gain-
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-
3Gain-
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-
3Gain-
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-
3Gain-
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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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-
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-
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-
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-
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-
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-
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-
1Loss-
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-
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ZSCAN30-
-
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-
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-
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-
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-
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-
1Loss-
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-
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-
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-
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ZUP1-
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-
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ZWILCH-
-
-
-
1Loss-
ZWINT-
-
-
-
1Loss-
ZZEF1-
-
-
-
1Loss-