Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | Called |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
AARD | - | - | - | - | 3 | Gain | - |
AASS | - | - | - | - | 3 | Gain | - |
ABCA13 | p.W1921* | Nonsense | SNP | 0.298 | 3 | Gain | - |
ABCB1 | - | - | - | - | 3 | Gain | - |
ABCB4 | p.A821V | Missense | SNP | 0.128 | 3 | Gain | - |
ABCB5 | - | - | - | - | 3 | Gain | - |
ABCB8 | - | - | - | - | 3 | Gain | - |
ABCC4 | - | - | - | - | 3 | Gain | - |
ABCF2 | - | - | - | - | 3 | Gain | - |
ABCG2 | p.A221T | Missense | SNP | 0.250 | 2 | - | - |
ABHD11 | - | - | - | - | 3 | Gain | - |
ABHD13 | - | - | - | - | 3 | Gain | - |
ABRA | - | - | - | - | 3 | Gain | - |
AC000120.2 | - | - | - | - | 3 | Gain | - |
AC000120.3 | - | - | - | - | 3 | Gain | - |
AC001226.2 | - | - | - | - | 3 | Gain | - |
AC004080.3 | - | - | - | - | 3 | Gain | - |
AC004593.3 | - | - | - | - | 3 | Gain | - |
AC004691.2 | - | - | - | - | 3 | Gain | - |
AC004922.1 | - | - | - | - | 3 | Gain | - |
AC005020.2 | - | - | - | - | 3 | Gain | - |
AC005154.5 | - | - | - | - | 3 | Gain | - |
AC006978.2 | - | - | - | - | 3 | Gain | - |
AC009879.2 | - | - | - | - | 3 | Gain | - |
AC009879.3 | - | - | - | - | 3 | Gain | - |
AC010132.3 | - | - | - | - | 3 | Gain | - |
AC011005.1 | - | - | - | - | 3 | Gain | - |
AC012213.5 | - | - | - | - | 3 | Gain | - |
AC019117.2 | - | - | - | - | 3 | Gain | - |
AC021097.2 | - | - | - | - | 3 | Gain | - |
AC021097.3 | - | - | - | - | 3 | Gain | - |
AC022826.2 | - | - | - | - | 3 | Gain | - |
AC027644.4 | - | - | - | - | 3 | Gain | - |
AC036214.3 | - | - | - | - | 3 | Gain | - |
AC068533.4 | - | - | - | - | 3 | Gain | - |
AC073111.3 | - | - | - | - | 3 | Gain | - |
AC073111.5 | - | - | - | - | 3 | Gain | - |
AC092647.5 | - | - | - | - | 3 | Gain | - |
AC093668.1 | - | - | - | - | 3 | Gain | - |
AC093668.2 | - | - | - | - | 3 | Gain | - |
AC093668.3 | - | - | - | - | 3 | Gain | - |
AC100868.1 | - | - | - | - | 3 | Gain | - |
AC105052.1 | - | - | - | - | 3 | Gain | - |
AC105052.3 | - | - | - | - | 3 | Gain | - |
AC115220.1 | - | - | - | - | 3 | Gain | - |
AC138647.1 | - | - | - | - | 3 | Gain | - |
AC138696.1 | - | - | - | - | 3 | Gain | - |
AC187653.1 | - | - | - | - | 3 | Gain | - |
ACAD10 | p.A222T | Missense | SNP | 0.457 | 2 | - | - |
ACHE | - | - | - | - | 3 | Gain | - |
ACOD1 | - | - | - | - | 3 | Gain | - |
ACP5 | p.D165E | Missense | SNP | 0.540 | 2 | - | - |
ACTB | - | - | - | - | 3 | Gain | - |
ACTL6B | - | - | - | - | 3 | Gain | - |
ACTN4 | p.K103E | Missense | SNP | 0.223 | 2 | - | - |
ACTR3B | - | - | - | - | 3 | Gain | - |
ACTR3C | - | - | - | - | 3 | Gain | - |
ACTRT1 | p.D289G | Missense | SNP | 0.522 | ND | ND | - |
ADAM22 | - | - | - | - | 3 | Gain | - |
ADAM33 | p.F685V | Missense | SNP | 0.449 | 2 | - | - |
ADAMTS12 | p.S77C | Missense | SNP | 0.464 | 2 | - | - |
ADAMTS6 | p.H132Q | Missense | SNP | 0.210 | 2 | - | - |
ADAMTSL3 | p.T354M | Missense | SNP | 0.497 | 2 | - | - |
ADAP1 | - | - | - | - | 3 | Gain | - |
ADCK2 | - | - | - | - | 3 | Gain | - |
ADCK5 | - | - | - | - | 3 | Gain | - |
ADCY1 | - | - | - | - | 3 | Gain | - |
ADCY2 | p.E17K | Missense | SNP | 0.442 | 2 | - | - |
ADCY8 | - | - | - | - | 3 | Gain | - |
ADCYAP1R1 | - | - | - | - | 3 | Gain | - |
ADGRB1 | - | - | - | - | 3 | Gain | - |
ADHFE1 | - | - | - | - | 3 | Gain | - |
ADPRHL1 | - | - | - | - | 3 | Gain | - |
ADRB2 | p.T195M | Missense | SNP | 0.489 | 2 | - | - |
AEBP1 | - | - | - | - | 3 | Gain | - |
AGAP3 | - | - | - | - | 3 | Gain | - |
AGBL3 | - | - | - | - | 3 | Gain | - |
AGFG2 | - | - | - | - | 3 | Gain | - |
AGK | - | - | - | - | 3 | Gain | - |
AGMO | - | - | - | - | 3 | Gain | - |
AGO2 | - | - | - | - | 3 | Gain | - |
AGO3 | p.Q311R | Missense | SNP | 0.503 | 2 | - | - |
AGR2 | - | - | - | - | 3 | Gain | - |
AGR3 | - | - | - | - | 3 | Gain | - |
AHCYL2 | - | - | - | - | 3 | Gain | - |
AHNAK | - | - | - | - | 2 | - | AHNAK--AL355075.4 |
AHR | - | - | - | - | 3 | Gain | - |
AIMP2 | - | - | - | - | 3 | Gain | - |
AKAP11 | p.V379I | Missense | SNP | 0.148 | 3 | Gain | - |
AKAP3 | p.P63H | Missense | SNP | 0.445 | 2 | - | - |
AKAP9 | - | - | - | - | 3 | Gain | - |
AKR1B1 | - | - | - | - | 3 | Gain | - |
AKR1B10 | - | - | - | - | 3 | Gain | - |
AKR1B15 | - | - | - | - | 3 | Gain | - |
AKR1D1 | - | - | - | - | 3 | Gain | - |
AL162377.3 | - | - | - | - | 3 | Gain | - |
AL355075.4 | - | - | - | - | ND | ND | AHNAK--AL355075.4 |
AL359736.1 | - | - | - | - | 3 | Gain | - |
AL445238.1 | - | - | - | - | 3 | Gain | - |
AL445989.1 | - | - | - | - | 3 | Gain | - |
AL512506.3 | - | - | - | - | 3 | Gain | - |
AL592490.1 | - | - | - | - | 3 | Gain | - |
ALG11 | - | - | - | - | 3 | Gain | - |
ALG5 | - | - | - | - | 3 | Gain | - |
ALKAL1 | - | - | - | - | 3 | Gain | - |
ALKBH4 | - | - | - | - | 3 | Gain | - |
ALOX12 | p.K387N | Missense | SNP | 0.204 | 2 | - | - |
ALOX5AP | - | - | - | - | 3 | Gain | - |
ALPK1 | p.S98P | Missense | SNP | 0.110 | 2 | - | - |
AMER2 | - | - | - | - | 3 | Gain | - |
AMMECR1L | p.G216V | Missense | SNP | 0.451 | 2 | - | - |
AMPH | - | - | - | - | 3 | Gain | - |
AMZ1 | - | - | - | - | 3 | Gain | - |
ANGPT1 | - | - | - | - | 3 | Gain | - |
ANHX | p.L320P | Missense | SNP | 0.387 | 2 | - | - |
ANKIB1 | - | - | - | - | 3 | Gain | - |
ANKMY2 | - | - | - | - | 3 | Gain | - |
ANKRD10 | - | - | - | - | 3 | Gain | - |
ANKRD18B | p.G294R | Missense | SNP | 0.162 | 2 | - | - |
ANKRD30B | p.M71V | Missense | SNP | 0.513 | 2 | - | - |
ANKRD36 | p.K231N | Missense | SNP | 0.457 | 2 | - | - |
ANKRD46 | - | - | - | - | 3 | Gain | - |
ANKRD61 | - | - | - | - | 3 | Gain | - |
ANKRD7 | - | - | - | - | 3 | Gain | - |
ANLN | - | - | - | - | 3 | Gain | - |
ANO2 | p.R477H | Missense | SNP | 0.422 | 2 | - | - |
ANXA13 | - | - | - | - | 3 | Gain | - |
AOAH | - | - | - | - | 3 | Gain | - |
AOC1 | - | - | - | - | 3 | Gain | - |
AP1S1 | - | - | - | - | 3 | Gain | - |
AP3B1 | p.L599P | Missense | SNP | 0.585 | 2 | - | - |
AP4M1 | - | - | - | - | 3 | Gain | - |
AP5Z1 | - | - | - | - | 3 | Gain | - |
APOBEC3F | p.Y125H | Missense | SNP | 0.205 | 2 | - | - |
APOO | p.K20E | Missense | SNP | 0.468 | ND | ND | - |
AQP1 | - | - | - | - | 3 | Gain | - |
ARAP3 | p.T1534I | Missense | SNP | 0.441 | 2 | - | - |
ARC | p.A382T | Missense | SNP | 0.229 | 3 | Gain | - |
ARF5 | - | - | - | - | 3 | Gain | - |
ARFGEF1 | - | - | - | - | 3 | Gain | - |
ARGLU1 | - | - | - | - | 3 | Gain | - |
ARHGAP23 | p.S314R | Missense | SNP | 0.411 | 2 | - | - |
ARHGAP39 | - | - | - | - | 3 | Gain | - |
ARHGEF5 | - | - | - | - | 3 | Gain | - |
ARHGEF7 | - | - | - | - | 3 | Gain | - |
ARL11 | - | - | - | - | 3 | Gain | - |
ARL17A | - | - | - | - | 1 | Loss | - |
ARL17B | - | - | - | - | 1 | Loss | - |
ARL4A | - | - | - | - | 3 | Gain | - |
ARMC1 | - | - | - | - | 3 | Gain | - |
ARMC10 | - | - | - | - | 3 | Gain | - |
ARPC1A | - | - | - | - | 3 | Gain | - |
ARPC1B | - | - | - | - | 3 | Gain | - |
ASAP1 | - | - | - | - | 3 | Gain | - |
ASB10 | - | - | - | - | 3 | Gain | - |
ASB15 | - | - | - | - | 3 | Gain | - |
ASB4 | - | - | - | - | 3 | Gain | - |
ASIC3 | - | - | - | - | 3 | Gain | - |
ASL | - | - | - | - | 3 | Gain | - |
ASNS | - | - | - | - | 3 | Gain | - |
ASPH | - | - | - | - | 3 | Gain | - |
ASZ1 | - | - | - | - | 3 | Gain | - |
ATAD2 | - | - | - | - | 3 | Gain | - |
ATG9B | - | - | - | - | 3 | Gain | - |
ATP11A | - | - | - | - | 3 | Gain | - |
ATP12A | - | - | - | - | 3 | Gain | - |
ATP13A2 | p.V669A | Missense | SNP | 0.496 | 2 | - | - |
ATP4B | - | - | - | - | 3 | Gain | - |
ATP5MF | - | - | - | - | 3 | Gain | - |
ATP5MF-PTCD1 | - | - | - | - | 3 | Gain | - |
ATP6V0A4 | - | - | - | - | 3 | Gain | - |
ATP6V0D2 | - | - | - | - | 3 | Gain | - |
ATP6V0E2 | - | - | - | - | 3 | Gain | - |
ATP6V1C1 | - | - | - | - | 3 | Gain | - |
ATP6V1F | p.R135C | Missense | SNP | 0.161 | 3 | Gain | - |
ATP6V1FNB | - | - | - | - | 3 | Gain | - |
ATP6V1H | - | - | - | - | 3 | Gain | - |
ATP7B | - | - | - | - | 3 | Gain | - |
ATP8A2 | p.G4D | Missense | SNP | 0.393 | 3 | Gain | - |
ATRX | p.V86L | Missense | SNP | 0.472 | ND | ND | - |
ATXN7 | p.D132G | Missense | SNP | 0.224 | 2 | - | - |
ATXN7L1 | - | - | - | - | 3 | Gain | - |
AUTS2 | - | - | - | - | 3 | Gain | - |
AVEN | p.V198A | Missense | SNP | 0.400 | 2 | - | - |
AVL9 | - | - | - | - | 3 | Gain | - |
AXIN2 | p.G406C | Missense | SNP | 0.465 | 2 | - | - |
AZGP1 | - | - | - | - | 3 | Gain | - |
AZIN1 | - | - | - | - | 3 | Gain | - |
B3GLCT | - | - | - | - | 3 | Gain | - |
B3GNT9 | p.D109N | Missense | SNP | 0.515 | 2 | - | - |
BAALC | - | - | - | - | 3 | Gain | - |
BAIAP2L1 | - | - | - | - | 3 | Gain | - |
BAZ1B | - | - | - | - | 3 | Gain | - |
BBS7 | p.A665V | Missense | SNP | 0.426 | 2 | - | - |
BBS9 | - | - | - | - | 3 | Gain | - |
BCAP29 | - | - | - | - | 3 | Gain | - |
BCL11B | p.L604I | Missense | SNP | 0.506 | 2 | - | - |
BCL7B | - | - | - | - | 3 | Gain | - |
BET1 | - | - | - | - | 3 | Gain | - |
BHLHA15 | - | - | - | - | 3 | Gain | - |
BHLHE22 | - | - | - | - | 3 | Gain | - |
BIVM | - | - | - | - | 3 | Gain | - |
BIVM-ERCC5 | - | - | - | - | 3 | Gain | - |
BLVRA | - | - | - | - | 3 | Gain | - |
BMPER | - | - | - | - | 3 | Gain | - |
BMT2 | - | - | - | - | 3 | Gain | - |
BOP1 | - | - | - | - | 3 | Gain | - |
BORA | p.L109H p.E438G | Missense Missense | SNP SNP | 0.156 0.143 | 3 | Gain | - |
BPGM | - | - | - | - | 3 | Gain | - |
BRAF | p.V600E | Missense | SNP | 0.256 | 3 | Gain | - |
BRAT1 | - | - | - | - | 3 | Gain | - |
BRCA2 | - | - | - | - | 3 | Gain | - |
BRI3 | - | - | - | - | 3 | Gain | - |
BRINP3 | - | - | - | - | 3 | Gain | - |
BRMS1 | p.T227R | Missense | SNP | 0.177 | 2 | - | - |
BUD23 | - | - | - | - | 3 | Gain | - |
BUD31 | - | - | - | - | 3 | Gain | - |
BZW2 | - | - | - | - | 3 | Gain | - |
C11orf58 | p.R55C | Missense | SNP | 0.478 | 2 | - | - |
C11orf63 | p.D354Y | Missense | SNP | 0.411 | ND | ND | - |
C17orf47 | p.R191H | Missense | SNP | 0.176 | 2 | - | - |
C1GALT1 | - | - | - | - | 3 | Gain | - |
C1orf43 | p.A189V | Missense | SNP | 0.600 | 2 | - | - |
C1QL2 | p.R230W | Missense | SNP | 0.491 | 2 | - | - |
C1QTNF9 | - | - | - | - | 3 | Gain | - |
C1QTNF9B | - | - | - | - | 3 | Gain | - |
C2orf42 | p.F222C | Missense | SNP | 0.509 | 2 | - | - |
C7orf25 | - | - | - | - | 3 | Gain | - |
C7orf26 | - | - | - | - | 3 | Gain | - |
C7orf31 | - | - | - | - | 3 | Gain | - |
C7orf33 | - | - | - | - | 3 | Gain | - |
C7orf43 | - | - | - | - | 3 | Gain | - |
C7orf50 | - | - | - | - | 3 | Gain | - |
C7orf55-LUC7L2 | - | - | - | - | 3 | Gain | - |
C7orf57 | - | - | - | - | 3 | Gain | - |
C7orf61 | - | - | - | - | 3 | Gain | - |
C7orf77 | - | - | - | - | 3 | Gain | - |
C8G | p.Q98* | Nonsense | SNP | 0.203 | ND | ND | - |
C8orf33 | - | - | - | - | 3 | Gain | - |
C8orf34 | - | - | - | - | 3 | Gain | - |
C8orf37 | - | - | - | - | 3 | Gain | - |
C8orf4 | p.E46* | Nonsense | SNP | 0.531 | ND | ND | - |
C8orf44 | - | - | - | - | 3 | Gain | - |
C8orf59 | - | - | - | - | 3 | Gain | - |
C8orf76 | - | - | - | - | 3 | Gain | - |
C8orf82 | - | - | - | - | 3 | Gain | - |
C8orf88 | - | - | - | - | 3 | Gain | - |
C8orf89 | - | - | - | - | 3 | Gain | - |
C9orf78 | p.E162K | Missense | SNP | 0.524 | ND | ND | - |
CA1 | - | - | - | - | 3 | Gain | - |
CA13 | - | - | - | - | 3 | Gain | - |
CA2 | - | - | - | - | 3 | Gain | - |
CA3 | - | - | - | - | 3 | Gain | - |
CA8 | - | - | - | - | 3 | Gain | - |
CAB39L | - | - | - | - | 3 | Gain | - |
CABP4 | p.E45K | Missense | SNP | 0.181 | 2 | - | - |
CACNA1E | p.V162G | Missense | SNP | 0.209 | 2 | - | - |
CACNA1I | p.R1272Q | Missense | SNP | 0.458 | 2 | - | - |
CACNA2D1 | - | - | - | - | 3 | Gain | - |
CACNG5 | p.R69W | Missense | SNP | 0.521 | 2 | - | - |
CACUL1 | p.A301T | Missense | SNP | 0.202 | 2 | - | - |
CADM2 | - | - | - | - | 3 | Gain | - |
CADPS2 | - | - | - | - | 3 | Gain | - |
CALB1 | - | - | - | - | 3 | Gain | - |
CALCR | - | - | - | - | 3 | Gain | - |
CALD1 | - | - | - | - | 3 | Gain | - |
CALN1 | - | - | - | - | 3 | Gain | - |
CALU | - | - | - | - | 3 | Gain | - |
CAMK2B | - | - | - | - | 3 | Gain | - |
CAPZA2 | - | - | - | - | 3 | Gain | - |
CARD11 | p.A1033V | Missense | SNP | 0.161 | 3 | Gain | - |
CARNS1 | p.G525D | Missense | SNP | 0.395 | 2 | - | - |
CARS2 | - | - | - | - | 3 | Gain | - |
CASC5 | p.F1899L | Missense | SNP | 0.402 | ND | ND | - |
CASD1 | - | - | - | - | 3 | Gain | - |
CASP2 | - | - | - | - | 3 | Gain | - |
CASTOR2 | - | - | - | - | 3 | Gain | - |
CASTOR3 | - | - | - | - | 3 | Gain | - |
CATSPERD | p.R53H | Missense | SNP | 0.373 | 2 | - | - |
CAV1 | - | - | - | - | 3 | Gain | - |
CAV2 | - | - | - | - | 3 | Gain | - |
CBLL1 | - | - | - | - | 3 | Gain | - |
CBR1 | p.R159H | Missense | SNP | 0.451 | 2 | - | - |
CBX3 | - | - | - | - | 3 | Gain | - |
CCDC105 | p.V179I | Missense | SNP | 0.463 | 2 | - | - |
CCDC122 | - | - | - | - | 3 | Gain | - |
CCDC126 | - | - | - | - | 3 | Gain | - |
CCDC136 | - | - | - | - | 3 | Gain | - |
CCDC146 | - | - | - | - | 3 | Gain | - |
CCDC148 | p.L477I | Missense | SNP | 0.232 | 2 | - | - |
CCDC166 | - | - | - | - | 3 | Gain | - |
CCDC168 | - | - | - | - | 3 | Gain | - |
CCDC169 | - | - | - | - | 3 | Gain | - |
CCDC169-SOHLH2 | - | - | - | - | 3 | Gain | - |
CCDC70 | - | - | - | - | 3 | Gain | - |
CCDC71L | - | - | - | - | 3 | Gain | - |
CCDC83 | p.R117H | Missense | SNP | 0.111 | 2 | - | - |
CCDC9 | p.G225D | Missense | SNP | 0.216 | 2 | - | - |
CCL24 | - | - | - | - | 3 | Gain | - |
CCL26 | - | - | - | - | 3 | Gain | - |
CCM2 | - | - | - | - | 3 | Gain | - |
CCNA1 | - | - | - | - | 3 | Gain | - |
CCND3 | p.I290T | Missense | SNP | 0.254 | 2 | - | - |
CCNE2 | - | - | - | - | 3 | Gain | - |
CCSAP | p.S80P | Missense | SNP | 0.465 | 2 | - | - |
CCT6A | - | - | - | - | 3 | Gain | - |
CCZ1 | - | - | - | - | 3 | Gain | - |
CCZ1B | - | - | - | - | 3 | Gain | - |
CD109 | p.C530R | Missense | SNP | 0.267 | 2 | - | - |
CD177 | - | - | - | - | 1 | Loss | - |
CD300E | p.V177M | Missense | SNP | 0.502 | 2 | - | - |
CD36 | - | - | - | - | 3 | Gain | - |
CD69 | p.R134* | Nonsense | SNP | 0.438 | 2 | - | - |
CDADC1 | - | - | - | - | 3 | Gain | - |
CDC14C | - | - | - | - | 3 | Gain | - |
CDC16 | - | - | - | - | 3 | Gain | - |
CDC25B | p.L65P | Missense | SNP | 0.391 | 2 | - | - |
CDC73 | p.S240N | Missense | SNP | 0.188 | 2 | - | - |
CDCA7L | - | - | - | - | 3 | Gain | - |
CDCP1 | p.R362W | Missense | SNP | 0.234 | 2 | - | - |
CDH17 | - | - | - | - | 3 | Gain | - |
CDH8 | p.I27M | Missense | SNP | 0.247 | 2 | - | - |
CDHR3 | - | - | - | - | 3 | Gain | - |
CDK11A | - | - | - | - | 1 | Loss | - |
CDK11B | - | - | - | - | 1 | Loss | - |
CDK13 | - | - | - | - | 3 | Gain | - |
CDK14 | - | - | - | - | 3 | Gain | - |
CDK5 | - | - | - | - | 3 | Gain | - |
CDK6 | - | - | - | - | 3 | Gain | - |
CDK8 | - | - | - | - | 3 | Gain | - |
CDX2 | - | - | - | - | 3 | Gain | - |
CEBPD | - | - | - | - | 3 | Gain | - |
CELF3 | p.Y43H | Missense | SNP | 0.484 | 2 | - | - |
CENPJ | - | - | - | - | 3 | Gain | - |
CEP41 | - | - | - | - | 3 | Gain | - |
CEP68 | p.A711T | Missense | SNP | 0.606 | 2 | - | - |
CES5A | p.R19I | Missense | SNP | 0.458 | 2 | - | - |
CFAP69 | - | - | - | - | 3 | Gain | - |
CFP | p.R403C | Missense | SNP | 0.522 | ND | ND | - |
CFTR | - | - | - | - | 3 | Gain | - |
CHAMP1 | - | - | - | - | 3 | Gain | - |
CHCHD2 | - | - | - | - | 3 | Gain | - |
CHCHD3 | - | - | - | - | 3 | Gain | - |
CHCHD5 | p.A80V | Missense | SNP | 0.530 | 2 | - | - |
CHCHD7 | - | - | - | - | 3 | Gain | - |
CHD7 | - | - | - | - | 3 | Gain | - |
CHMP4C | - | - | - | - | 3 | Gain | - |
CHN2 | - | - | - | - | 3 | Gain | - |
CHPF2 | - | - | - | - | 3 | Gain | - |
CHRAC1 | - | - | - | - | 3 | Gain | - |
CHRM2 | - | - | - | - | 3 | Gain | - |
CHST12 | - | - | - | - | 3 | Gain | - |
CIAO1 | p.X47_splice | Splice_Site | SNP | 0.300 | 2 | - | - |
CILP | p.R263* | Nonsense | SNP | 0.529 | 2 | - | - |
CISH | p.P75S | Missense | SNP | 0.470 | 2 | - | - |
CKAP2 | - | - | - | - | 3 | Gain | - |
CLCN1 | - | - | - | - | 3 | Gain | - |
CLDN10 | - | - | - | - | 3 | Gain | - |
CLDN12 | - | - | - | - | 3 | Gain | - |
CLDN15 | - | - | - | - | 3 | Gain | - |
CLDN3 | - | - | - | - | 3 | Gain | - |
CLDN4 | - | - | - | - | 3 | Gain | - |
CLEC2L | - | - | - | - | 3 | Gain | - |
CLEC3B | p.K76T | Missense | SNP | 0.166 | 2 | - | - |
CLEC5A | - | - | - | - | 3 | Gain | - |
CLIP2 | - | - | - | - | 3 | Gain | - |
CLK4 | p.V338M | Missense | SNP | 0.224 | 2 | - | - |
CLN5 | - | - | - | - | 3 | Gain | - |
CLP1 | p.R19* | Nonsense | SNP | 0.391 | 2 | - | - |
CLVS1 | - | - | - | - | 3 | Gain | - |
CLYBL | - | - | - | - | 3 | Gain | - |
CNBD1 | - | - | - | - | 3 | Gain | - |
CNGB3 | - | - | - | - | 3 | Gain | - |
CNMD | - | - | - | - | 3 | Gain | - |
CNOT4 | - | - | - | - | 3 | Gain | - |
CNPY1 | - | - | - | - | 3 | Gain | - |
CNPY4 | - | - | - | - | 3 | Gain | - |
CNTN6 | p.R565S | Missense | SNP | 0.134 | 2 | - | - |
CNTNAP2 | p.P1112S | Missense | SNP | 0.371 | 6 | Amp | - |
COA1 | - | - | - | - | 3 | Gain | - |
COBL | - | - | - | - | 3 | Gain | - |
COBLL1 | p.G507A | Missense | SNP | 0.505 | 2 | - | - |
COG3 | - | - | - | - | 3 | Gain | - |
COG5 | - | - | - | - | 3 | Gain | - |
COG6 | - | - | - | - | 3 | Gain | - |
COL14A1 | - | - | - | - | 3 | Gain | - |
COL1A2 | - | - | - | - | 3 | Gain | - |
COL20A1 | p.R625H | Missense | SNP | 0.577 | 2 | - | - |
COL22A1 | - | - | - | - | 3 | Gain | - |
COL26A1 | - | - | - | - | 3 | Gain | - |
COL28A1 | - | - | - | - | 3 | Gain | - |
COL4A1 | - | - | - | - | 3 | Gain | - |
COL4A2 | - | - | - | - | 3 | Gain | - |
COL6A4P1 | . | Splice_Site | SNP | 0.143 | ND | ND | - |
COLEC10 | - | - | - | - | 3 | Gain | - |
COLEC12 | p.R335C | Missense | SNP | 0.330 | 2 | - | - |
COMMD5 | - | - | - | - | 3 | Gain | - |
COMMD6 | - | - | - | - | 3 | Gain | - |
COPG2 | p.S824P | Missense | SNP | 0.327 | 3 | Gain | - |
COPS5 | - | - | - | - | 3 | Gain | - |
COPS6 | p.V286M | Missense | SNP | 0.348 | 3 | Gain | - |
COX19 | - | - | - | - | 3 | Gain | - |
COX6C | - | - | - | - | 3 | Gain | - |
CPA1 | - | - | - | - | 3 | Gain | - |
CPA2 | - | - | - | - | 3 | Gain | - |
CPA4 | - | - | - | - | 3 | Gain | - |
CPA5 | - | - | - | - | 3 | Gain | - |
CPA6 | - | - | - | - | 3 | Gain | - |
CPB2 | - | - | - | - | 3 | Gain | - |
CPED1 | p.K915E | Missense | SNP | 0.361 | 3 | Gain | - |
CPNE3 | - | - | - | - | 3 | Gain | - |
CPQ | - | - | - | - | 3 | Gain | - |
CPSF1 | - | - | - | - | 3 | Gain | - |
CPSF4 | - | - | - | - | 3 | Gain | - |
CPVL | - | - | - | - | 3 | Gain | - |
CRB1 | p.S15N | Missense | SNP | 0.267 | 2 | - | - |
CRCP | - | - | - | - | 3 | Gain | - |
CREB3L2 | - | - | - | - | 3 | Gain | - |
CREB5 | - | - | - | - | 3 | Gain | - |
CRH | - | - | - | - | 3 | Gain | - |
CRHR2 | p.A4V | Missense | SNP | 0.421 | 3 | Gain | - |
CRISPLD1 | - | - | - | - | 3 | Gain | - |
CROT | - | - | - | - | 3 | Gain | - |
CRYGB | p.G14C | Missense | SNP | 0.512 | 2 | - | - |
CRYGN | - | - | - | - | 3 | Gain | - |
CRYL1 | - | - | - | - | 3 | Gain | - |
CSMD3 | - | - | - | - | 5 | Amp | - |
CSNK1A1L | - | - | - | - | 3 | Gain | - |
CSPP1 | - | - | - | - | 3 | Gain | - |
CTAGE4 | - | - | - | - | 3 | Gain | - |
CTAGE8 | - | - | - | - | 3 | Gain | - |
CTBP2 | p.R831* | Nonsense | SNP | 0.647 | 2 | - | - |
CTHRC1 | - | - | - | - | 3 | Gain | - |
CTTN | p.X264_splice | Splice_Site | SNP | 0.442 | 2 | - | - |
CTTNBP2 | - | - | - | - | 3 | Gain | - |
CUBN | p.P3288L | Missense | SNP | 0.549 | 2 | - | - |
CUL1 | - | - | - | - | 3 | Gain | - |
CUL4A | - | - | - | - | 3 | Gain | - |
CUX1 | - | - | - | - | 3 | Gain | - |
CUZD1 | p.A213V | Missense | SNP | 0.354 | 2 | - | - |
CWH43 | p.A291S | Missense | SNP | 0.236 | 2 | - | - |
CYC1 | - | - | - | - | 3 | Gain | - |
CYCS | - | - | - | - | 3 | Gain | - |
CYHR1 | - | - | - | - | 3 | Gain | - |
CYP11B1 | - | - | - | - | 3 | Gain | - |
CYP11B2 | - | - | - | - | 3 | Gain | - |
CYP27B1 | p.H336Y | Missense | SNP | 0.481 | 2 | - | - |
CYP2S1 | p.P36H | Missense | SNP | 0.433 | 2 | - | - |
CYP2W1 | - | - | - | - | 3 | Gain | - |
CYP3A4 | - | - | - | - | 3 | Gain | - |
CYP3A43 | - | - | - | - | 3 | Gain | - |
CYP3A5 | - | - | - | - | 3 | Gain | - |
CYP3A7 | - | - | - | - | 3 | Gain | - |
CYP3A7-CYP3A51P | - | - | - | - | 3 | Gain | - |
CYP51A1 | - | - | - | - | 3 | Gain | - |
CYP7A1 | - | - | - | - | 3 | Gain | - |
CYP7B1 | - | - | - | - | 3 | Gain | - |
CYREN | - | - | - | - | 3 | Gain | - |
CYSLTR2 | - | - | - | - | 3 | Gain | - |
CYTH3 | - | - | - | - | 3 | Gain | - |
DACH1 | - | - | - | - | 3 | Gain | - |
DAGLA | p.C935* | Nonsense | SNP | 0.412 | 2 | - | - |
DAGLB | - | - | - | - | 3 | Gain | - |
DAOA | - | - | - | - | 3 | Gain | - |
DBF4 | - | - | - | - | 3 | Gain | - |
DBNL | - | - | - | - | 3 | Gain | - |
DBR1 | p.V200A | Missense | SNP | 0.455 | 2 | - | - |
DCAF13 | - | - | - | - | 3 | Gain | - |
DCAF4L2 | - | - | - | - | 3 | Gain | - |
DCHS2 | p.Q2158R | Missense | SNP | 0.444 | 2 | - | - |
DCLK1 | - | - | - | - | 3 | Gain | - |
DCLRE1A | p.C949Y | Missense | SNP | 0.458 | 2 | - | - |
DCLRE1C | p.L358S | Missense | SNP | 0.416 | 2 | - | - |
DCSTAMP | - | - | - | - | 3 | Gain | - |
DCT | - | - | - | - | 3 | Gain | - |
DCUN1D2 | - | - | - | - | 3 | Gain | - |
DDC | - | - | - | - | 3 | Gain | - |
DDX56 | - | - | - | - | 3 | Gain | - |
DECR1 | - | - | - | - | 3 | Gain | - |
DENND2A | - | - | - | - | 3 | Gain | - |
DENND3 | - | - | - | - | 3 | Gain | - |
DEPTOR | - | - | - | - | 3 | Gain | - |
DERL1 | - | - | - | - | 3 | Gain | - |
DERL3 | p.F49S | Missense | SNP | 0.278 | 2 | - | - |
DGAT1 | - | - | - | - | 3 | Gain | - |
DGCR8 | p.G173C | Missense | SNP | 0.562 | 2 | - | - |
DGKB | p.R681* p.T213I | Nonsense Missense | SNP SNP | 0.312 0.348 | 3 | Gain | - |
DGKH | - | - | - | - | 3 | Gain | - |
DGKI | - | - | - | - | 3 | Gain | - |
DHRS12 | - | - | - | - | 3 | Gain | - |
DHX30 | p.A446T | Missense | SNP | 0.449 | 2 | - | - |
DIAPH3 | - | - | - | - | 3 | Gain | - |
DIS3 | - | - | - | - | 3 | Gain | - |
DLD | - | - | - | - | 3 | Gain | - |
DLEU7 | - | - | - | - | 3 | Gain | - |
DLX5 | - | - | - | - | 3 | Gain | - |
DLX6 | - | - | - | - | 3 | Gain | - |
DMAP1 | p.T284M | Missense | SNP | 0.199 | 2 | - | - |
DMTF1 | - | - | - | - | 3 | Gain | - |
DNAAF5 | - | - | - | - | 3 | Gain | - |
DNAH11 | - | - | - | - | 3 | Gain | - |
DNAH8 | p.E2304D | Missense | SNP | 0.662 | 2 | - | - |
DNAJB6 | - | - | - | - | 3 | Gain | - |
DNAJB9 | - | - | - | - | 3 | Gain | - |
DNAJC15 | - | - | - | - | 3 | Gain | - |
DNAJC2 | - | - | - | - | 3 | Gain | - |
DNAJC3 | - | - | - | - | 3 | Gain | - |
DNAJC30 | - | - | - | - | 3 | Gain | - |
DNAJC5B | - | - | - | - | 3 | Gain | - |
DNASE1L2 | p.C42R p.G43S | Missense Missense | SNP SNP | 0.421 0.418 | 2 | - | - |
DNMT1 | p.N709S | Missense | SNP | 0.409 | 2 | - | - |
DOCK2 | p.L360I | Missense | SNP | 0.500 | 2 | - | - |
DOCK4 | - | - | - | - | 3 | Gain | - |
DOCK9 | p.F1462L | Missense | SNP | 0.596 | 3 | Gain | - |
DOT1L | p.M71I | Missense | SNP | 0.452 | 2 | - | - |
DPP6 | - | - | - | - | 3 | Gain | - |
DPY19L1 | - | - | - | - | 3 | Gain | - |
DPY19L4 | - | - | - | - | 3 | Gain | - |
DPYS | - | - | - | - | 3 | Gain | - |
DSCC1 | - | - | - | - | 3 | Gain | - |
DSCR4 | p.T7M | Missense | SNP | 0.506 | ND | ND | - |
DTX2 | - | - | - | - | 3 | Gain | - |
DUS4L | - | - | - | - | 3 | Gain | - |
DYNC1I1 | - | - | - | - | 3 | Gain | - |
DYRK1A | p.I74V | Missense | SNP | 0.239 | 2 | - | - |
DZIP1 | - | - | - | - | 3 | Gain | - |
DZIP1L | p.R233Q | Missense | SNP | 0.528 | 2 | - | - |
E2F5 | - | - | - | - | 3 | Gain | - |
E4F1 | p.I761F | Missense | SNP | 0.450 | 2 | - | - |
EBAG9 | - | - | - | - | 3 | Gain | - |
EBPL | - | - | - | - | 3 | Gain | - |
EDNRB | p.R54C | Missense | SNP | 0.383 | 3 | Gain | - |
EEA1 | p.E1139A | Missense | SNP | 0.592 | 2 | - | - |
EEF1AKMT1 | - | - | - | - | 3 | Gain | - |
EEF1D | - | - | - | - | 3 | Gain | - |
EEPD1 | - | - | - | - | 3 | Gain | - |
EFCAB1 | - | - | - | - | 3 | Gain | - |
EFCAB10 | - | - | - | - | 3 | Gain | - |
EFNB2 | - | - | - | - | 3 | Gain | - |
EFR3A | - | - | - | - | 3 | Gain | - |
EGFL8 | p.V236D | Missense | SNP | 0.967 | 2 | - | - |
EGFR | - | - | - | - | 3 | Gain | - |
EHD2 | p.L263I | Missense | SNP | 0.434 | 2 | - | - |
EIF2AK1 | - | - | - | - | 3 | Gain | - |
EIF3B | - | - | - | - | 3 | Gain | - |
EIF3E | - | - | - | - | 3 | Gain | - |
EIF3H | - | - | - | - | 3 | Gain | - |
EIF4E1B | p.D115E | Missense | SNP | 0.506 | 2 | - | - |
EIF4H | - | - | - | - | 3 | Gain | - |
ELF1 | - | - | - | - | 3 | Gain | - |
ELFN1 | - | - | - | - | 3 | Gain | - |
ELMO1 | - | - | - | - | 3 | Gain | - |
ELN | - | - | - | - | 3 | Gain | - |
ELOC | - | - | - | - | 3 | Gain | - |
EMC2 | - | - | - | - | 3 | Gain | - |
EMSY | p.P1089L | Missense | DNP | 0.301 | 2 | - | - |
EN2 | - | - | - | - | 3 | Gain | - |
ENOX1 | - | - | - | - | 3 | Gain | - |
ENPP2 | - | - | - | - | 3 | Gain | - |
ENY2 | - | - | - | - | 3 | Gain | - |
EPDR1 | - | - | - | - | 3 | Gain | - |
EPHA1 | - | - | - | - | 3 | Gain | - |
EPHB4 | - | - | - | - | 3 | Gain | - |
EPHB6 | - | - | - | - | 3 | Gain | - |
EPO | - | - | - | - | 3 | Gain | - |
EPPK1 | - | - | - | - | 3 | Gain | - |
EPSTI1 | - | - | - | - | 3 | Gain | - |
ERCC5 | - | - | - | - | 3 | Gain | - |
ERICH5 | - | - | - | - | 3 | Gain | - |
ERICH6B | - | - | - | - | 3 | Gain | - |
ERV3-1 | - | - | - | - | 3 | Gain | - |
ESD | - | - | - | - | 3 | Gain | - |
ESPL1 | p.K515E | Missense | SNP | 0.532 | 2 | - | - |
ESR1 | p.R28H | Missense | SNP | 0.263 | 2 | - | - |
ESRP1 | - | - | - | - | 3 | Gain | - |
ESYT2 | - | - | - | - | 3 | Gain | - |
ETS1 | p.S26F | Missense | SNP | 0.566 | 2 | - | - |
ETV1 | - | - | - | - | 3 | Gain | - |
EVI5L | p.R615H | Missense | SNP | 0.479 | 2 | - | - |
EVX1 | p.R184C | Missense | SNP | 0.315 | 3 | Gain | - |
EXOC4 | - | - | - | - | 3 | Gain | - |
EXOC6B | p.L479R | Missense | SNP | 0.196 | 2 | - | - |
EXOSC4 | - | - | - | - | 3 | Gain | - |
EXOSC8 | - | - | - | - | 3 | Gain | - |
EXT1 | - | - | - | - | 3 | Gain | - |
EYA1 | - | - | - | - | 3 | Gain | - |
EZH2 | - | - | - | - | 3 | Gain | - |
F10 | - | - | - | - | 3 | Gain | - |
F7 | - | - | - | - | 3 | Gain | - |
FAAP100 | p.Y829C | Missense | SNP | 0.134 | 2 | - | - |
FABP1 | p.K121E | Missense | SNP | 0.516 | 2 | - | - |
FABP12 | - | - | - | - | 3 | Gain | - |
FABP4 | - | - | - | - | 3 | Gain | - |
FABP5 | - | - | - | - | 3 | Gain | - |
FABP9 | - | - | - | - | 3 | Gain | - |
FAM110B | - | - | - | - | 3 | Gain | - |
FAM124A | p.R472M | Missense | SNP | 0.160 | 3 | Gain | - |
FAM126A | p.I230T | Missense | SNP | 0.629 | 3 | Gain | - |
FAM131B | - | - | - | - | 3 | Gain | - |
FAM133B | - | - | - | - | 3 | Gain | - |
FAM135B | - | - | - | - | 3 | Gain | - |
FAM155A | - | - | - | - | 3 | Gain | - |
FAM180A | - | - | - | - | 3 | Gain | - |
FAM185A | - | - | - | - | 3 | Gain | - |
FAM200A | - | - | - | - | 3 | Gain | - |
FAM20C | - | - | - | - | 3 | Gain | - |
FAM216B | - | - | - | - | 3 | Gain | - |
FAM220A | - | - | - | - | 3 | Gain | - |
FAM221A | - | - | - | - | 3 | Gain | - |
FAM3C | - | - | - | - | 3 | Gain | - |
FAM49B | - | - | - | - | 3 | Gain | - |
FAM71F1 | - | - | - | - | 3 | Gain | - |
FAM71F2 | - | - | - | - | 3 | Gain | - |
FAM83A | - | - | - | - | 3 | Gain | - |
FAM83H | - | - | - | - | 3 | Gain | - |
FAM84B | - | - | - | - | 3 | Gain | - |
FAM91A1 | - | - | - | - | 3 | Gain | - |
FAM92A | - | - | - | - | 3 | Gain | - |
FARP1 | - | - | - | - | 3 | Gain | - |
FASN | p.R2026H | Missense | SNP | 0.232 | 2 | - | - |
FASTK | - | - | - | - | 3 | Gain | - |
FAT3 | p.A4049T | Missense | SNP | 0.271 | 2 | - | - |
FBXL13 | - | - | - | - | 3 | Gain | - |
FBXL18 | - | - | - | - | 3 | Gain | - |
FBXL3 | - | - | - | - | 3 | Gain | - |
FBXL6 | - | - | - | - | 3 | Gain | - |
FBXO24 | - | - | - | - | 3 | Gain | - |
FBXO32 | - | - | - | - | 3 | Gain | - |
FBXO43 | - | - | - | - | 3 | Gain | - |
FBXW11 | p.X463_splice | Splice_Site | SNP | 0.464 | 2 | - | - |
FCGBP | p.H3648Y | Missense | SNP | 0.506 | 2 | - | - |
FER1L5 | p.A756D | Missense | SNP | 0.484 | 2 | - | - |
FER1L6 | - | - | - | - | 3 | Gain | - |
FERD3L | - | - | - | - | 3 | Gain | - |
FES | p.G641V | Missense | SNP | 0.470 | 2 | - | - |
FEZF1 | - | - | - | - | 3 | Gain | - |
FGF12 | p.V111M | Missense | SNP | 0.471 | 2 | - | - |
FGF14 | - | - | - | - | 3 | Gain | - |
FGF9 | - | - | - | - | 3 | Gain | - |
FGL2 | - | - | - | - | 3 | Gain | - |
FHOD3 | p.R1538* | Nonsense | SNP | 0.235 | 2 | - | - |
FIGNL1 | - | - | - | - | 3 | Gain | - |
FIS1 | - | - | - | - | 3 | Gain | - |
FKBP14 | - | - | - | - | 3 | Gain | - |
FKBP6 | - | - | - | - | 3 | Gain | - |
FKBP9 | - | - | - | - | 3 | Gain | - |
FLNC | - | - | - | - | 3 | Gain | - |
FLRT2 | - | - | - | - | 3 | Gain | - |
FLT1 | - | - | - | - | 3 | Gain | - |
FLT3 | - | - | - | - | 3 | Gain | - |
FMC1 | - | - | - | - | 3 | Gain | - |
FNDC3A | - | - | - | - | 3 | Gain | - |
FOXH1 | - | - | - | - | 3 | Gain | - |
FOXK1 | - | - | - | - | 3 | Gain | - |
FOXO1 | - | - | - | - | 3 | Gain | - |
FOXP2 | - | - | - | - | 3 | Gain | - |
FREM2 | - | - | - | - | 3 | Gain | - |
FRY | - | - | - | - | 3 | Gain | - |
FSBP | - | - | - | - | 3 | Gain | - |
FSCN1 | p.A475T | Missense | SNP | 0.328 | 3 | Gain | - |
FSCN3 | p.R101Q | Missense | SNP | 0.183 | 3 | Gain | - |
FYCO1 | p.A776V | Missense | SNP | 0.585 | 2 | - | - |
FZD1 | - | - | - | - | 3 | Gain | - |
FZD6 | - | - | - | - | 3 | Gain | - |
FZD9 | - | - | - | - | 3 | Gain | - |
GAL3ST4 | - | - | - | - | 3 | Gain | - |
GALC | p.K474* | Nonsense | SNP | 0.435 | 2 | - | - |
GALNT11 | - | - | - | - | 3 | Gain | - |
GALNT17 | - | - | - | - | 3 | Gain | - |
GALNTL5 | - | - | - | - | 3 | Gain | - |
GALNTL6 | p.L30M | Missense | SNP | 0.191 | 2 | - | - |
GARS | - | - | - | - | 3 | Gain | - |
GAS6 | - | - | - | - | 3 | Gain | - |
GATAD1 | - | - | - | - | 3 | Gain | - |
GBE1 | - | - | - | - | 3 | Gain | - |
GBX1 | - | - | - | - | 3 | Gain | - |
GCC1 | - | - | - | - | 3 | Gain | - |
GCK | - | - | - | - | 3 | Gain | - |
GCN1 | p.K475N | Missense | SNP | 0.389 | 2 | - | - |
GDAP1 | - | - | - | - | 3 | Gain | - |
GDF6 | - | - | - | - | 3 | Gain | - |
GDPD1 | p.V186A | Missense | SNP | 0.255 | 2 | - | - |
GEM | - | - | - | - | 3 | Gain | - |
GET4 | - | - | - | - | 3 | Gain | - |
GGACT | - | - | - | - | 3 | Gain | - |
GGCT | - | - | - | - | 3 | Gain | - |
GGH | - | - | - | - | 3 | Gain | - |
GHRHR | - | - | - | - | 3 | Gain | - |
GIGYF1 | - | - | - | - | 3 | Gain | - |
GIMAP1 | - | - | - | - | 3 | Gain | - |
GIMAP1-GIMAP5 | - | - | - | - | 3 | Gain | - |
GIMAP2 | - | - | - | - | 3 | Gain | - |
GIMAP4 | - | - | - | - | 3 | Gain | - |
GIMAP5 | - | - | - | - | 3 | Gain | - |
GIMAP6 | - | - | - | - | 3 | Gain | - |
GIMAP7 | - | - | - | - | 3 | Gain | - |
GIMAP8 | - | - | - | - | 3 | Gain | - |
GJA3 | - | - | - | - | 3 | Gain | - |
GJB2 | - | - | - | - | 3 | Gain | - |
GJB6 | - | - | - | - | 3 | Gain | - |
GJC3 | - | - | - | - | 3 | Gain | - |
GLCCI1 | - | - | - | - | 3 | Gain | - |
GLI3 | p.A1549V | Missense | SNP | 0.350 | 3 | Gain | - |
GLI4 | - | - | - | - | 3 | Gain | - |
GLUL | p.A191V | Missense | SNP | 0.484 | 2 | - | - |
GLYR1 | p.V12A | Missense | SNP | 0.433 | 2 | - | - |
GML | - | - | - | - | 3 | Gain | - |
GNA12 | - | - | - | - | 3 | Gain | - |
GNAI1 | - | - | - | - | 3 | Gain | - |
GNAI2 | - | - | - | - | 3 | Gain | - |
GNAT1 | - | - | - | - | 3 | Gain | - |
GNAT3 | - | - | - | - | 3 | Gain | - |
GNB2 | - | - | - | - | 3 | Gain | - |
GNG11 | - | - | - | - | 3 | Gain | - |
GNGT1 | - | - | - | - | 3 | Gain | - |
GOLGA4 | p.R312C | Missense | SNP | 0.462 | 2 | - | - |
GPAA1 | - | - | - | - | 3 | Gain | - |
GPALPP1 | - | - | - | - | 3 | Gain | - |
GPBAR1 | p.E169K | Missense | SNP | 0.487 | 2 | - | - |
GPC2 | - | - | - | - | 3 | Gain | - |
GPC5 | - | - | - | - | 3 | Gain | - |
GPC6 | p.X430_splice | Splice_Site | SNP | 0.546 | 3 | Gain | - |
GPER1 | - | - | - | - | 3 | Gain | - |
GPHN | p.E178D | Missense | SNP | 0.260 | 2 | - | - |
GPIHBP1 | - | - | - | - | 3 | Gain | - |
GPNMB | - | - | - | - | 3 | Gain | - |
GPR12 | - | - | - | - | 3 | Gain | - |
GPR141 | - | - | - | - | 3 | Gain | - |
GPR146 | - | - | - | - | 3 | Gain | - |
GPR18 | - | - | - | - | 3 | Gain | - |
GPR180 | - | - | - | - | 3 | Gain | - |
GPR183 | - | - | - | - | 3 | Gain | - |
GPR20 | - | - | - | - | 3 | Gain | - |
GPR22 | - | - | - | - | 3 | Gain | - |
GPR26 | p.T191M | Missense | SNP | 0.373 | 2 | - | - |
GPR37 | - | - | - | - | 3 | Gain | - |
GPR39 | p.R193H | Missense | SNP | 0.451 | 2 | - | - |
GPR85 | - | - | - | - | 3 | Gain | - |
GPRC5B | p.V131I | Missense | SNP | 0.487 | 2 | - | - |
GPRIN1 | p.A974V | Missense | SNP | 0.538 | 2 | - | - |
GPT | p.R31W | Missense | SNP | 0.464 | 3 | Gain | - |
GRB10 | - | - | - | - | 3 | Gain | - |
GRHL2 | - | - | - | - | 3 | Gain | - |
GRID2IP | - | - | - | - | 3 | Gain | - |
GRIFIN | - | - | - | - | 3 | Gain | - |
GRIN2D | p.Y1168C | Missense | SNP | 0.462 | 2 | - | - |
GRINA | - | - | - | - | 3 | Gain | - |
GRIP1 | p.A670V | Missense | SNP | 0.526 | 2 | - | - |
GRK1 | - | - | - | - | 3 | Gain | - |
GRK5 | p.R74M | Missense | SNP | 0.468 | 2 | - | - |
GRK7 | p.A146V | Missense | SNP | 0.162 | 2 | - | - |
GRM3 | - | - | - | - | 3 | Gain | - |
GRM8 | - | - | - | - | 3 | Gain | - |
GRTP1 | - | - | - | - | 3 | Gain | - |
GSAP | p.D423E | Missense | SNP | 0.369 | 3 | Gain | - |
GSDMC | - | - | - | - | 3 | Gain | - |
GSDMD | p.S31P | Missense | SNP | 0.104 | 3 | Gain | - |
GSDME | - | - | - | - | 3 | Gain | - |
GSTK1 | - | - | - | - | 3 | Gain | - |
GSX1 | - | - | - | - | 3 | Gain | - |
GTF2F2 | - | - | - | - | 3 | Gain | - |
GTF2I | - | - | - | - | 3 | Gain | - |
GTF2IRD1 | p.C386Y | Missense | SNP | 0.127 | 3 | Gain | - |
GTF2IRD2 | - | - | - | - | 3 | Gain | - |
GTF2IRD2B | - | - | - | - | 3 | Gain | - |
GTF3A | - | - | - | - | 3 | Gain | - |
GTPBP10 | - | - | - | - | 3 | Gain | - |
GUCY2D | p.A169V | Missense | SNP | 0.473 | 2 | - | - |
GUSB | - | - | - | - | 3 | Gain | - |
H2AFV | - | - | - | - | 3 | Gain | - |
HARS2 | p.R327W | Missense | SNP | 0.525 | 2 | - | - |
HAS2 | - | - | - | - | 3 | Gain | - |
HBP1 | - | - | - | - | 3 | Gain | - |
HCAR2 | p.R251W | Missense | SNP | 0.231 | 2 | - | - |
HDAC6 | p.A603T | Missense | SNP | 0.509 | ND | ND | - |
HDAC9 | - | - | - | - | 3 | Gain | - |
HECW1 | - | - | - | - | 3 | Gain | - |
HEPACAM2 | - | - | - | - | 3 | Gain | - |
HERPUD2 | - | - | - | - | 3 | Gain | - |
HEY1 | - | - | - | - | 3 | Gain | - |
HGF | - | - | - | - | 3 | Gain | - |
HGH1 | - | - | - | - | 3 | Gain | - |
HHLA1 | - | - | - | - | 3 | Gain | - |
HIBADH | - | - | - | - | 3 | Gain | - |
HILPDA | - | - | - | - | 3 | Gain | - |
HIP1 | - | - | - | - | 3 | Gain | - |
HIPK2 | - | - | - | - | 3 | Gain | - |
HIST1H2BK | p.R34P | Missense | SNP | 0.181 | 2 | - | - |
HIVEP2 | p.E2025* p.R1028* | Nonsense Nonsense | SNP SNP | 0.465 0.548 | 2 | - | - |
HMGB1 | - | - | - | - | 3 | Gain | - |
HNF4G | - | - | - | - | 3 | Gain | - |
HNRNPA2B1 | - | - | - | - | 3 | Gain | - |
HOXA1 | - | - | - | - | 3 | Gain | - |
HOXA10 | p.G285S | Missense | SNP | 0.589 | 3 | Gain | - |
HOXA11 | - | - | - | - | 3 | Gain | - |
HOXA13 | - | - | - | - | 3 | Gain | - |
HOXA2 | - | - | - | - | 3 | Gain | - |
HOXA3 | - | - | - | - | 3 | Gain | - |
HOXA4 | - | - | - | - | 3 | Gain | - |
HOXA5 | - | - | - | - | 3 | Gain | - |
HOXA6 | - | - | - | - | 3 | Gain | - |
HOXA7 | - | - | - | - | 3 | Gain | - |
HOXA9 | - | - | - | - | 3 | Gain | - |
HOXB3 | p.R192Q | Missense | SNP | 0.117 | 2 | - | - |
HPN | p.A59V | Missense | SNP | 0.492 | 2 | - | - |
HR | p.A492E | Missense | SNP | 0.538 | 2 | - | - |
HS3ST3B1 | p.G149D | Missense | SNP | 0.239 | 2 | - | - |
HS6ST3 | - | - | - | - | 3 | Gain | - |
HSBP1L1 | p.X18_splice | Splice_Site | SNP | 0.293 | 2 | - | - |
HSF1 | - | - | - | - | 3 | Gain | - |
HSPB1 | - | - | - | - | 3 | Gain | - |
HSPH1 | - | - | - | - | 3 | Gain | - |
HTATIP2 | p.A150V | Missense | SNP | 0.509 | 2 | - | - |
HTR2A | - | - | - | - | 3 | Gain | - |
HTR5A | - | - | - | - | 3 | Gain | - |
HUS1 | - | - | - | - | 3 | Gain | - |
HYAL4 | - | - | - | - | 3 | Gain | - |
IBTK | p.S1217R | Missense | SNP | 0.188 | 2 | - | - |
ICA1 | - | - | - | - | 3 | Gain | - |
ICAM5 | p.G741V | Missense | SNP | 0.195 | 2 | - | - |
IFRD1 | - | - | - | - | 3 | Gain | - |
IFT122 | p.X91_splice | Splice_Site | SNP | 0.458 | 2 | - | - |
IFT22 | - | - | - | - | 3 | Gain | - |
IFT88 | - | - | - | - | 3 | Gain | - |
IGDCC3 | p.R431W | Missense | SNP | 0.510 | 2 | - | - |
IGF2BP3 | - | - | - | - | 3 | Gain | - |
IGFBP1 | - | - | - | - | 3 | Gain | - |
IGFBP3 | - | - | - | - | 3 | Gain | - |
IGKV2-24 | p.G91W | Missense | SNP | 0.253 | ND | ND | - |
IKZF1 | - | - | - | - | 3 | Gain | - |
IL17D | - | - | - | - | 3 | Gain | - |
IL1A | p.G169C | Missense | SNP | 0.174 | 2 | - | - |
IL1RAPL1 | p.R106W | Missense | SNP | 0.528 | ND | ND | - |
IL6 | - | - | - | - | 3 | Gain | - |
IL7 | - | - | - | - | 3 | Gain | - |
ILF3 | p.V197I | Missense | SNP | 0.339 | 2 | - | - |
IMMP2L | - | - | - | - | 3 | Gain | - |
IMPA1 | - | - | - | - | 3 | Gain | - |
IMPAD1 | - | - | - | - | 3 | Gain | - |
IMPDH1 | - | - | - | - | 3 | Gain | - |
ING1 | - | - | - | - | 3 | Gain | - |
ING3 | - | - | - | - | 3 | Gain | - |
INHBA | - | - | - | - | 3 | Gain | - |
INMT | - | - | - | - | 3 | Gain | - |
INMT-MINDY4 | - | - | - | - | 3 | Gain | - |
INPP5A | p.V229I | Missense | SNP | 0.353 | 2 | - | - |
INSIG1 | - | - | - | - | 3 | Gain | - |
INTS1 | p.L1244Q | Missense | SNP | 0.302 | 3 | Gain | - |
INTS4 | p.G307D | Missense | SNP | 0.456 | 2 | - | - |
INTS6 | - | - | - | - | 3 | Gain | - |
INTS8 | - | - | - | - | 3 | Gain | - |
IPO11 | p.Q975* | Nonsense | SNP | 0.512 | 2 | - | - |
IPO5 | - | - | - | - | 3 | Gain | - |
IQANK1 | - | - | - | - | 3 | Gain | - |
IQCE | - | - | - | - | 3 | Gain | - |
IQUB | - | - | - | - | 3 | Gain | - |
IRF5 | - | - | - | - | 3 | Gain | - |
IRF9 | p.S359N | Missense | SNP | 0.438 | 2 | - | - |
IRS2 | - | - | - | - | 3 | Gain | - |
IRX1 | p.A356T | Missense | SNP | 0.511 | 2 | - | - |
IRX2 | p.A74D | Missense | SNP | 0.565 | 2 | - | - |
ISL2 | p.R215Q | Missense | SNP | 0.405 | 2 | - | - |
ISPD | - | - | - | - | 3 | Gain | - |
ITGA10 | p.G880E | Missense | SNP | 0.476 | 2 | - | - |
ITGA9 | p.R14C | Missense | SNP | 0.411 | 2 | - | - |
ITGB8 | - | - | - | - | 3 | Gain | - |
ITGBL1 | - | - | - | - | 3 | Gain | - |
ITM2B | - | - | - | - | 3 | Gain | - |
ITPRID1 | - | - | - | - | 3 | Gain | - |
JAG1 | p.A336V | Missense | SNP | 0.231 | 2 | - | - |
JAZF1 | - | - | - | - | 3 | Gain | - |
JPH1 | - | - | - | - | 3 | Gain | - |
JRK | - | - | - | - | 3 | Gain | - |
KATNAL1 | - | - | - | - | 3 | Gain | - |
KAZN | p.R27* | Nonsense | SNP | 0.167 | 2 | - | - |
KBTBD2 | - | - | - | - | 3 | Gain | - |
KBTBD6 | - | - | - | - | 3 | Gain | - |
KBTBD7 | - | - | - | - | 3 | Gain | - |
KCNB2 | - | - | - | - | 3 | Gain | - |
KCND2 | - | - | - | - | 3 | Gain | - |
KCNH2 | p.A169T | Missense | SNP | 0.216 | 3 | Gain | - |
KCNJ6 | p.R46* | Nonsense | SNP | 0.509 | 2 | - | - |
KCNK9 | - | - | - | - | 3 | Gain | - |
KCNQ3 | - | - | - | - | 3 | Gain | - |
KCNRG | - | - | - | - | 3 | Gain | - |
KCNS2 | - | - | - | - | 3 | Gain | - |
KCNT2 | - | - | - | - | 3 | Gain | - |
KCNV1 | - | - | - | - | 5 | Amp | - |
KCP | - | - | - | - | 3 | Gain | - |
KCTD12 | - | - | - | - | 3 | Gain | - |
KCTD4 | - | - | - | - | 3 | Gain | - |
KCTD7 | - | - | - | - | 3 | Gain | - |
KDELC1 | - | - | - | - | 3 | Gain | - |
KDELR2 | - | - | - | - | 3 | Gain | - |
KDM6A | p.Y362C | Missense | SNP | 0.469 | ND | ND | - |
KDM7A | - | - | - | - | 3 | Gain | - |
KEL | - | - | - | - | 3 | Gain | - |
KHDRBS3 | - | - | - | - | 3 | Gain | - |
KIAA0368 | p.A1320V | Missense | SNP | 0.105 | ND | ND | - |
KIAA0895 | - | - | - | - | 3 | Gain | - |
KIAA1147 | - | - | - | - | 3 | Gain | - |
KIAA1324L | - | - | - | - | 3 | Gain | - |
KIAA1549 | p.X1592_splice | Splice_Site | SNP | 0.276 | 3 | Gain | - |
KIAA1549L | p.P327L | Missense | SNP | 0.140 | 2 | - | - |
KIF19 | p.E573K | Missense | SNP | 0.440 | 2 | - | - |
KIF4A | p.T995A | Missense | SNP | 0.500 | ND | ND | - |
KIFC2 | - | - | - | - | 3 | Gain | - |
KL | - | - | - | - | 3 | Gain | - |
KLF10 | - | - | - | - | 3 | Gain | - |
KLF12 | - | - | - | - | 3 | Gain | - |
KLF14 | - | - | - | - | 3 | Gain | - |
KLF5 | - | - | - | - | 3 | Gain | - |
KLHDC10 | - | - | - | - | 3 | Gain | - |
KLHL1 | - | - | - | - | 3 | Gain | - |
KLHL34 | p.P245L | Missense | SNP | 0.430 | ND | ND | - |
KLHL38 | p.M414V | Missense | SNP | 0.434 | 3 | Gain | - |
KLHL7 | - | - | - | - | 3 | Gain | - |
KLK13 | p.R190H | Missense | SNP | 0.468 | 2 | - | - |
KLRG2 | - | - | - | - | 3 | Gain | - |
KMT2C | - | - | - | - | 3 | Gain | - |
KMT2E | - | - | - | - | 3 | Gain | - |
KPNA3 | - | - | - | - | 3 | Gain | - |
KPNA7 | - | - | - | - | 3 | Gain | - |
KRBA1 | - | - | - | - | 3 | Gain | - |
KRIT1 | - | - | - | - | 3 | Gain | - |
LACC1 | - | - | - | - | 3 | Gain | - |
LACTB2 | - | - | - | - | 3 | Gain | - |
LAMB1 | - | - | - | - | 3 | Gain | - |
LAMB4 | - | - | - | - | 3 | Gain | - |
LAMP1 | - | - | - | - | 3 | Gain | - |
LAMTOR4 | - | - | - | - | 3 | Gain | - |
LANCL2 | - | - | - | - | 3 | Gain | - |
LAPTM4B | - | - | - | - | 3 | Gain | - |
LAT2 | - | - | - | - | 3 | Gain | - |
LATS2 | - | - | - | - | 3 | Gain | - |
LAYN | p.R20W | Missense | SNP | 0.541 | 2 | - | - |
LCK | p.T499M | Missense | SNP | 0.476 | 2 | - | - |
LCP1 | - | - | - | - | 3 | Gain | - |
LDHB | p.P183S | Missense | SNP | 0.398 | 2 | - | - |
LEP | - | - | - | - | 3 | Gain | - |
LFNG | - | - | - | - | 3 | Gain | - |
LGI2 | p.C194R | Missense | SNP | 0.474 | 2 | - | - |
LHFPL3 | - | - | - | - | 3 | Gain | - |
LHFPL6 | - | - | - | - | 3 | Gain | - |
LIG4 | - | - | - | - | 3 | Gain | - |
LIMK1 | - | - | - | - | 3 | Gain | - |
LIMK2 | p.X499_splice | Splice_Site | SNP | 0.172 | 2 | - | - |
LINC01276 | . | Splice_Site | SNP | 0.537 | ND | ND | - |
LIPG | p.V121I | Missense | SNP | 0.372 | 2 | - | - |
LIPH | p.F241S | Missense | SNP | 0.341 | 2 | - | - |
LLCFC1 | - | - | - | - | 3 | Gain | - |
LMBR1 | - | - | - | - | 3 | Gain | - |
LMO2 | p.L112P | Missense | SNP | 0.462 | 2 | - | - |
LMO7 | - | - | - | - | 3 | Gain | - |
LMOD2 | - | - | - | - | 3 | Gain | - |
LMTK2 | - | - | - | - | 3 | Gain | - |
LNX2 | - | - | - | - | 3 | Gain | - |
LONRF2 | p.E194K | Missense | SNP | 0.434 | 2 | - | - |
LPAR6 | - | - | - | - | 3 | Gain | - |
LPIN2 | p.M743T | Missense | SNP | 0.395 | 2 | - | - |
LRCH1 | - | - | - | - | 3 | Gain | - |
LRCH4 | p.Q264R | Missense | SNP | 0.371 | 3 | Gain | - |
LRGUK | - | - | - | - | 3 | Gain | - |
LRIT3 | p.A123T | Missense | SNP | 0.172 | 2 | - | - |
LRP1 | p.R1734H | Missense | SNP | 0.269 | 2 | - | - |
LRP12 | - | - | - | - | 3 | Gain | - |
LRP1B | p.R3239H | Missense | SNP | 0.488 | 2 | - | - |
LRRC14 | - | - | - | - | 3 | Gain | - |
LRRC17 | - | - | - | - | 3 | Gain | - |
LRRC24 | - | - | - | - | 3 | Gain | - |
LRRC37A | - | - | - | - | 1 | Loss | - |
LRRC37A2 | - | - | - | - | 1 | Loss | - |
LRRC4 | p.A142T | Missense | SNP | 0.291 | 3 | Gain | - |
LRRC4B | p.R547W | Missense | SNP | 0.491 | 2 | - | - |
LRRC6 | - | - | - | - | 3 | Gain | - |
LRRC61 | - | - | - | - | 3 | Gain | - |
LRRC63 | - | - | - | - | 3 | Gain | - |
LRRC69 | - | - | - | - | 3 | Gain | - |
LRRC72 | - | - | - | - | 3 | Gain | - |
LRRCC1 | - | - | - | - | 3 | Gain | - |
LRRD1 | - | - | - | - | 3 | Gain | - |
LRRN3 | - | - | - | - | 3 | Gain | - |
LRRTM4 | - | - | - | - | 3 | Gain | - |
LRTM2 | p.R240W | Missense | SNP | 0.626 | 2 | - | - |
LRWD1 | - | - | - | - | 3 | Gain | - |
LSM5 | - | - | - | - | 3 | Gain | - |
LSM8 | - | - | - | - | 3 | Gain | - |
LSMEM1 | - | - | - | - | 3 | Gain | - |
LUC7L2 | - | - | - | - | 3 | Gain | - |
LUZP6 | - | - | - | - | 3 | Gain | - |
LY6D | - | - | - | - | 3 | Gain | - |
LY6E | - | - | - | - | 3 | Gain | - |
LY6H | - | - | - | - | 3 | Gain | - |
LY6K | - | - | - | - | 3 | Gain | - |
LY6L | - | - | - | - | 3 | Gain | - |
LY96 | - | - | - | - | 3 | Gain | - |
LYN | - | - | - | - | 3 | Gain | - |
LYNX1 | - | - | - | - | 3 | Gain | - |
LYNX1-SLURP2 | - | - | - | - | 3 | Gain | - |
LYPD2 | - | - | - | - | 3 | Gain | - |
LYPLA1 | - | - | - | - | 3 | Gain | - |
LYST | p.L1109I | Missense | SNP | 0.400 | 2 | - | - |
MAB21L1 | - | - | - | - | 3 | Gain | - |
MACC1 | - | - | - | - | 3 | Gain | - |
MAD1L1 | - | - | - | - | 3 | Gain | - |
MAF1 | - | - | - | - | 3 | Gain | - |
MAFA | - | - | - | - | 3 | Gain | - |
MAFK | - | - | - | - | 3 | Gain | - |
MAGI2 | - | - | - | - | 3 | Gain | - |
MAL2 | - | - | - | - | 3 | Gain | - |
MALSU1 | - | - | - | - | 3 | Gain | - |
MAP1A | p.V2482L | Missense | SNP | 0.498 | 2 | - | - |
MAP2K2 | p.L46V | Missense | SNP | 0.429 | 2 | - | - |
MAPK11 | - | - | - | - | 3 | Gain | - |
MAPK12 | - | - | - | - | 3 | Gain | - |
MAPK15 | - | - | - | - | 3 | Gain | - |
MAPK8IP1 | p.A541T | Missense | SNP | 0.468 | 2 | - | - |
MATN2 | - | - | - | - | 3 | Gain | - |
MAZ | p.Y433C | Missense | SNP | 0.462 | 2 | - | - |
MBD5 | p.G514V | Missense | SNP | 0.538 | 2 | - | - |
MBLAC1 | - | - | - | - | 3 | Gain | - |
MBNL2 | - | - | - | - | 3 | Gain | - |
MCF2L | - | - | - | - | 3 | Gain | - |
MCM3AP | p.A544T | Missense | SNP | 0.157 | 2 | - | - |
MCM4 | - | - | - | - | 3 | Gain | - |
MCM7 | - | - | - | - | 3 | Gain | - |
MCMDC2 | - | - | - | - | 3 | Gain | - |
MDFIC | - | - | - | - | 3 | Gain | - |
MDH2 | - | - | - | - | 3 | Gain | - |
MDN1 | p.A4990V | Missense | SNP | 0.432 | 2 | - | - |
MECP2 | p.R267Q | Missense | SNP | 0.425 | ND | ND | - |
MED1 | p.G1432D | Missense | SNP | 0.167 | 2 | - | - |
MED12L | p.P1720L | Missense | SNP | 0.426 | 2 | - | - |
MED30 | - | - | - | - | 3 | Gain | - |
MED4 | - | - | - | - | 3 | Gain | - |
MEDAG | - | - | - | - | 3 | Gain | - |
MEF2C | p.G115C | Missense | SNP | 0.523 | 2 | - | - |
MEGF8 | p.Y2600C | Missense | SNP | 0.153 | 2 | - | - |
MEIS1 | p.R276H | Missense | SNP | 0.515 | 2 | - | - |
MEOX2 | - | - | - | - | 3 | Gain | - |
MEPCE | - | - | - | - | 3 | Gain | - |
MEST | - | - | - | - | 3 | Gain | - |
MET | p.T230M | Missense | SNP | 0.170 | 3 | Gain | - |
METTL21C | - | - | - | - | 3 | Gain | - |
METTL27 | - | - | - | - | 3 | Gain | - |
METTL2B | - | - | - | - | 3 | Gain | - |
MFSD3 | - | - | - | - | 3 | Gain | - |
MFSD5 | p.V110A | Missense | SNP | 0.431 | 2 | - | - |
MGAM | - | - | - | - | 3 | Gain | - |
MGAM2 | - | - | - | - | 3 | Gain | - |
MICALL2 | - | - | - | - | 3 | Gain | - |
MICU2 | - | - | - | - | 3 | Gain | - |
MINDY4 | - | - | - | - | 3 | Gain | - |
MIOS | - | - | - | - | 3 | Gain | - |
MIPEP | - | - | - | - | 3 | Gain | - |
MKI67 | p.A403T | Missense | SNP | 0.276 | 2 | - | - |
MKLN1 | - | - | - | - | 3 | Gain | - |
MKRN1 | - | - | - | - | 3 | Gain | - |
MLIP | p.T107A | Missense | SNP | 0.182 | 2 | - | - |
MLNR | - | - | - | - | 3 | Gain | - |
MLXIPL | - | - | - | - | 3 | Gain | - |
MMD2 | - | - | - | - | 3 | Gain | - |
MMP16 | - | - | - | - | 3 | Gain | - |
MMP17 | p.R289C | Missense | SNP | 0.163 | 2 | - | - |
MMP23B | - | - | - | - | 1 | Loss | - |
MNX1 | - | - | - | - | 3 | Gain | - |
MOGAT3 | - | - | - | - | 3 | Gain | - |
MOS | - | - | - | - | 3 | Gain | - |
MOSPD3 | - | - | - | - | 3 | Gain | - |
MPHOSPH8 | - | - | - | - | 3 | Gain | - |
MPLKIP | - | - | - | - | 3 | Gain | - |
MPP6 | - | - | - | - | 3 | Gain | - |
MRM2 | - | - | - | - | 3 | Gain | - |
MROH1 | - | - | - | - | 3 | Gain | - |
MROH5 | - | - | - | - | 3 | Gain | - |
MROH6 | - | - | - | - | 3 | Gain | - |
MROH7 | p.E1205G | Missense | SNP | 0.234 | 2 | - | - |
MRPL13 | - | - | - | - | 3 | Gain | - |
MRPL15 | - | - | - | - | 3 | Gain | - |
MRPL32 | - | - | - | - | 3 | Gain | - |
MRPL57 | - | - | - | - | 3 | Gain | - |
MRPS17 | - | - | - | - | 3 | Gain | - |
MRPS24 | - | - | - | - | 3 | Gain | - |
MRPS28 | - | - | - | - | 3 | Gain | - |
MRPS31 | - | - | - | - | 3 | Gain | - |
MRPS33 | - | - | - | - | 3 | Gain | - |
MSC | - | - | - | - | 3 | Gain | - |
MSGN1 | p.G185S | Missense | SNP | 0.219 | 2 | - | - |
MSH6 | p.R1034Q | Missense | SNP | 0.378 | 2 | - | - |
MST1 | p.C576Y | Missense | SNP | 0.212 | 2 | - | - |
MTBP | - | - | - | - | 3 | Gain | - |
MTDH | - | - | - | - | 3 | Gain | - |
MTERF1 | - | - | - | - | 3 | Gain | - |
MTERF3 | - | - | - | - | 3 | Gain | - |
MTFR1 | - | - | - | - | 3 | Gain | - |
MTIF3 | - | - | - | - | 3 | Gain | - |
MTMR6 | - | - | - | - | 3 | Gain | - |
MTOR | p.A1271T | Missense | SNP | 0.464 | 2 | - | - |
MTPN | - | - | - | - | 3 | Gain | - |
MTRF1 | - | - | - | - | 3 | Gain | - |
MTSS1 | - | - | - | - | 3 | Gain | - |
MTURN | - | - | - | - | 3 | Gain | - |
MTUS1 | p.M426T | Missense | SNP | 0.139 | 2 | - | - |
MTUS2 | - | - | - | - | 3 | Gain | - |
MUC12 | - | - | - | - | 3 | Gain | - |
MUC16 | p.T12742S p.A9967E | Missense Missense | SNP SNP | 0.106 0.535 | 2 | - | - |
MUC17 | - | - | - | - | 3 | Gain | - |
MUC3A | - | - | - | - | 3 | Gain | - |
MYBL1 | - | - | - | - | 3 | Gain | - |
MYC | - | - | - | - | 3 | Gain | - |
MYCBP2 | - | - | - | - | 3 | Gain | - |
MYL10 | - | - | - | - | 3 | Gain | - |
MYL7 | - | - | - | - | 3 | Gain | - |
MYO10 | p.A745V | Missense | SNP | 0.229 | 2 | - | - |
MYO16 | - | - | - | - | 3 | Gain | - |
MYO1G | - | - | - | - | 3 | Gain | - |
MZT1 | - | - | - | - | 3 | Gain | - |
N4BP2L1 | - | - | - | - | 3 | Gain | - |
N4BP2L2 | - | - | - | - | 3 | Gain | - |
NAA16 | - | - | - | - | 3 | Gain | - |
NACAD | - | - | - | - | 3 | Gain | - |
NALCN | p.R155W | Missense | SNP | 0.158 | 3 | Gain | - |
NAMPT | - | - | - | - | 3 | Gain | - |
NAPEPLD | - | - | - | - | 3 | Gain | - |
NAPRT | - | - | - | - | 3 | Gain | - |
NAT16 | - | - | - | - | 3 | Gain | - |
NAV3 | p.T1815M | Missense | SNP | 0.467 | 2 | - | - |
NAXD | - | - | - | - | 3 | Gain | - |
NBAS | p.A1339T | Missense | SNP | 0.460 | 2 | - | - |
NBEA | - | - | - | - | 3 | Gain | - |
NBN | - | - | - | - | 3 | Gain | - |
NCALD | - | - | - | - | 3 | Gain | - |
NCAPG2 | - | - | - | - | 3 | Gain | - |
NCBP1 | p.D606V | Missense | SNP | 0.500 | 2 | - | - |
NCF1 | - | - | - | - | 3 | Gain | - |
NCKAP5 | p.A1096T | Missense | SNP | 0.509 | 2 | - | - |
NCOA2 | - | - | - | - | 3 | Gain | - |
NDFIP2 | - | - | - | - | 3 | Gain | - |
NDRG1 | - | - | - | - | 3 | Gain | - |
NDUFA4 | - | - | - | - | 3 | Gain | - |
NDUFA5 | - | - | - | - | 3 | Gain | - |
NDUFAF6 | - | - | - | - | 3 | Gain | - |
NDUFB2 | - | - | - | - | 3 | Gain | - |
NDUFB9 | - | - | - | - | 3 | Gain | - |
NECAB1 | - | - | - | - | 3 | Gain | - |
NECTIN2 | p.P452S | Missense | SNP | 0.215 | 2 | - | - |
NEGR1 | - | - | - | - | 3 | Gain | - |
NEK3 | - | - | - | - | 3 | Gain | - |
NEK5 | - | - | - | - | 3 | Gain | - |
NEU3 | p.G28V | Missense | SNP | 0.179 | 2 | - | - |
NEUROD4 | p.T78I | Missense | SNP | 0.402 | 2 | - | - |
NEUROD6 | - | - | - | - | 3 | Gain | - |
NFE2L3 | - | - | - | - | 3 | Gain | - |
NFE4 | - | - | - | - | 3 | Gain | - |
NHLRC3 | - | - | - | - | 3 | Gain | - |
NIM1K | p.T311M | Missense | SNP | 0.447 | 2 | - | - |
NIPAL2 | - | - | - | - | 3 | Gain | - |
NIPSNAP2 | - | - | - | - | 3 | Gain | - |
NKAIN3 | - | - | - | - | 3 | Gain | - |
NME8 | - | - | - | - | 3 | Gain | - |
NOBOX | - | - | - | - | 3 | Gain | - |
NOD1 | - | - | - | - | 3 | Gain | - |
NOM1 | - | - | - | - | 3 | Gain | - |
NOS3 | p.R728W | Missense | SNP | 0.315 | 3 | Gain | - |
NOV | - | - | - | - | 3 | Gain | - |
NPBWR1 | p.A245T | Missense | SNP | 0.646 | 3 | Gain | - |
NPBWR2 | p.A267V | Missense | SNP | 0.339 | 2 | - | - |
NPC1L1 | - | - | - | - | 3 | Gain | - |
NPPB | p.S110F | Missense | SNP | 0.438 | 2 | - | - |
NPSR1 | - | - | - | - | 3 | Gain | - |
NPTX2 | - | - | - | - | 3 | Gain | - |
NPVF | - | - | - | - | 3 | Gain | - |
NPW | p.G136A | Missense | SNP | 0.329 | 2 | - | - |
NPY | - | - | - | - | 3 | Gain | - |
NRBP2 | - | - | - | - | 3 | Gain | - |
NRCAM | - | - | - | - | 3 | Gain | - |
NRF1 | - | - | - | - | 3 | Gain | - |
NRIP3 | p.A32V | Missense | SNP | 0.574 | 2 | - | - |
NRROS | p.L83P | Missense | SNP | 0.296 | 2 | - | - |
NSD1 | p.Y1400C | Missense | SNP | 0.328 | 2 | - | - |
NSF | - | - | - | - | 1 | Loss | - |
NSMAF | - | - | - | - | 3 | Gain | - |
NSMCE2 | - | - | - | - | 3 | Gain | - |
NSUN5 | - | - | - | - | 3 | Gain | - |
NT5C2 | p.Y27H | Missense | SNP | 0.210 | 2 | - | - |
NT5C3A | - | - | - | - | 3 | Gain | - |
NTHL1 | p.T171M | Missense | SNP | 0.178 | 2 | - | - |
NTSR2 | p.R67H | Missense | SNP | 0.412 | 2 | - | - |
NUB1 | - | - | - | - | 3 | Gain | - |
NUDCD1 | - | - | - | - | 3 | Gain | - |
NUDCD3 | - | - | - | - | 3 | Gain | - |
NUDT1 | - | - | - | - | 3 | Gain | - |
NUDT15 | - | - | - | - | 3 | Gain | - |
NUDT17 | p.R141* | Nonsense | SNP | 0.292 | 2 | - | - |
NUFIP1 | - | - | - | - | 3 | Gain | - |
NUP205 | - | - | - | - | 3 | Gain | - |
NUP58 | p.G451V | Missense | SNP | 0.270 | 3 | Gain | - |
NUPL2 | - | - | - | - | 3 | Gain | - |
NUPR2 | - | - | - | - | 3 | Gain | - |
NXF1 | p.S575T | Missense | SNP | 0.319 | 2 | - | - |
NXPH1 | - | - | - | - | 3 | Gain | - |
NYAP1 | - | - | - | - | 3 | Gain | - |
OAS3 | p.R812* | Nonsense | SNP | 0.425 | 2 | - | - |
OC90 | - | - | - | - | 3 | Gain | - |
OCM | - | - | - | - | 3 | Gain | - |
OCM2 | - | - | - | - | 3 | Gain | - |
OCRL | p.R552C | Missense | SNP | 0.542 | ND | ND | - |
ODF1 | - | - | - | - | 3 | Gain | - |
OGDH | - | - | - | - | 3 | Gain | - |
OLFM4 | - | - | - | - | 3 | Gain | - |
OPLAH | - | - | - | - | 3 | Gain | - |
OPN1SW | - | - | - | - | 3 | Gain | - |
OPRK1 | - | - | - | - | 3 | Gain | - |
OR13A1 | p.A66T | Missense | SNP | 0.466 | 2 | - | - |
OR13C9 | p.L103I | Missense | SNP | 0.180 | 2 | - | - |
OR2A1 | - | - | - | - | 3 | Gain | - |
OR2A12 | - | - | - | - | 3 | Gain | - |
OR2A14 | - | - | - | - | 3 | Gain | - |
OR2A2 | - | - | - | - | 3 | Gain | - |
OR2A25 | - | - | - | - | 3 | Gain | - |
OR2A42 | - | - | - | - | 3 | Gain | - |
OR2A5 | - | - | - | - | 3 | Gain | - |
OR2A7 | - | - | - | - | 3 | Gain | - |
OR2AE1 | - | - | - | - | 3 | Gain | - |
OR2F1 | - | - | - | - | 3 | Gain | - |
OR2F2 | - | - | - | - | 3 | Gain | - |
OR4K1 | - | - | - | - | 3 | Gain | - |
OR4K2 | - | - | - | - | 3 | Gain | - |
OR4K5 | - | - | - | - | 3 | Gain | - |
OR4M1 | - | - | - | - | 3 | Gain | - |
OR4N2 | - | - | - | - | 3 | Gain | - |
OR4Q3 | - | - | - | - | 3 | Gain | - |
OR52K1 | p.A190V | Missense | SNP | 0.517 | 2 | - | - |
OR6B1 | - | - | - | - | 3 | Gain | - |
OR6C74 | p.A235S | Missense | SNP | 0.511 | 2 | - | - |
OR6V1 | - | - | - | - | 3 | Gain | - |
OR8H1 | p.S264T | Missense | SNP | 0.270 | 2 | - | - |
OR9A2 | - | - | - | - | 3 | Gain | - |
OR9A4 | - | - | - | - | 3 | Gain | - |
ORAI2 | - | - | - | - | 3 | Gain | - |
ORC5 | - | - | - | - | 3 | Gain | - |
OSBPL3 | p.X773_splice | Splice_Site | SNP | 0.438 | 3 | Gain | - |
OSGIN2 | - | - | - | - | 3 | Gain | - |
OSR2 | - | - | - | - | 3 | Gain | - |
OTOF | p.K1306E | Missense | SNP | 0.259 | 2 | - | - |
OTUD6B | - | - | - | - | 3 | Gain | - |
OXGR1 | - | - | - | - | 3 | Gain | - |
OXR1 | - | - | - | - | 3 | Gain | - |
PABPC1 | - | - | - | - | 3 | Gain | - |
PABPC3 | p.R41Q | Missense | SNP | 0.331 | 3 | Gain | - |
PAG1 | - | - | - | - | 3 | Gain | - |
PALMD | p.H303R | Missense | SNP | 0.538 | 2 | - | - |
PAN3 | p.V42I | Missense | SNP | 0.286 | 3 | Gain | - |
PAPOLB | - | - | - | - | 3 | Gain | - |
PARP10 | - | - | - | - | 3 | Gain | - |
PARP12 | - | - | - | - | 3 | Gain | - |
PARP4 | - | - | - | - | 3 | Gain | - |
PAX4 | - | - | - | - | 3 | Gain | - |
PAXIP1 | - | - | - | - | 3 | Gain | - |
PCBP3 | p.T370M | Missense | SNP | 0.452 | 2 | - | - |
PCCA | - | - | - | - | 3 | Gain | - |
PCDH10 | p.R634C | Missense | SNP | 0.554 | 2 | - | - |
PCDH17 | - | - | - | - | 3 | Gain | - |
PCDH20 | - | - | - | - | 3 | Gain | - |
PCDH8 | - | - | - | - | 3 | Gain | - |
PCDH9 | - | - | - | - | 3 | Gain | - |
PCDHGA1 | p.A637V | Missense | SNP | 0.568 | 2 | - | - |
PCDHGB4 | p.S509R | Missense | SNP | 0.230 | 2 | - | - |
PCID2 | - | - | - | - | 3 | Gain | - |
PCLO | - | - | - | - | 3 | Gain | - |
PCMTD1 | - | - | - | - | 3 | Gain | - |
PCOLCE | - | - | - | - | 3 | Gain | - |
PCSK1 | p.A217P | Missense | SNP | 0.505 | 2 | - | - |
PCSK1N | p.A68V | Missense | SNP | 0.535 | ND | ND | - |
PCSK7 | p.E443A | Missense | SNP | 0.158 | 2 | - | - |
PDAP1 | - | - | - | - | 3 | Gain | - |
PDE1C | - | - | - | - | 3 | Gain | - |
PDE7A | - | - | - | - | 3 | Gain | - |
PDE8A | p.L13M | Missense | SNP | 0.232 | 2 | - | - |
PDGFA | - | - | - | - | 3 | Gain | - |
PDIA4 | - | - | - | - | 3 | Gain | - |
PDK4 | - | - | - | - | 3 | Gain | - |
PDP1 | - | - | - | - | 3 | Gain | - |
PDS5B | - | - | - | - | 3 | Gain | - |
PDX1 | - | - | - | - | 3 | Gain | - |
PEG10 | - | - | - | - | 3 | Gain | - |
PENK | - | - | - | - | 3 | Gain | - |
PER3 | p.T966A | Missense | SNP | 0.188 | 2 | - | - |
PEX1 | - | - | - | - | 3 | Gain | - |
PEX2 | - | - | - | - | 3 | Gain | - |
PGAM2 | - | - | - | - | 3 | Gain | - |
PGLYRP2 | p.R558H | Missense | SNP | 0.535 | 2 | - | - |
PHF11 | - | - | - | - | 3 | Gain | - |
PHF14 | - | - | - | - | 3 | Gain | - |
PHF20 | p.R49C | Missense | SNP | 0.412 | 2 | - | - |
PHF20L1 | - | - | - | - | 3 | Gain | - |
PHF8 | p.P878S | Missense | SNP | 0.561 | ND | ND | - |
PHKG1 | p.A257V | Missense | SNP | 0.370 | 3 | Gain | - |
PHLPP1 | p.I823M | Missense | SNP | 0.200 | 2 | - | - |
PHTF2 | - | - | - | - | 3 | Gain | - |
PI15 | - | - | - | - | 3 | Gain | - |
PIBF1 | - | - | - | - | 3 | Gain | - |
PICALM | p.N524K | Missense | SNP | 0.460 | 2 | - | - |
PIGA | p.R285H | Missense | SNP | 0.326 | ND | ND | - |
PIK3CG | - | - | - | - | 3 | Gain | - |
PILRA | - | - | - | - | 3 | Gain | - |
PILRB | - | - | - | - | 3 | Gain | - |
PIP | - | - | - | - | 3 | Gain | - |
PIP4P2 | - | - | - | - | 3 | Gain | - |
PIP5K1C | p.D490N | Missense | SNP | 0.260 | 2 | - | - |
PITPNM1 | p.P11S | Missense | SNP | 0.254 | 2 | - | - |
PIWIL4 | p.P244S | Missense | SNP | 0.558 | 2 | - | - |
PKD1 | p.Y1627F | Missense | SNP | 0.469 | 2 | - | - |
PKD1L1 | - | - | - | - | 3 | Gain | - |
PKHD1L1 | - | - | - | - | 3 | Gain | - |
PKIA | - | - | - | - | 3 | Gain | - |
PLA2G4A | - | - | - | - | 3 | Gain | - |
PLAG1 | - | - | - | - | 3 | Gain | - |
PLCB1 | p.L678V | Missense | SNP | 0.225 | 2 | - | - |
PLEC | - | - | - | - | 3 | Gain | - |
PLEKHA8 | - | - | - | - | 3 | Gain | - |
PLEKHF2 | - | - | - | - | 3 | Gain | - |
PLEKHO1 | p.E265* | Nonsense | SNP | 0.229 | 2 | - | - |
PLOD3 | - | - | - | - | 3 | Gain | - |
PLVAP | p.K327E | Missense | SNP | 0.243 | 2 | - | - |
PLXNA4 | - | - | - | - | 3 | Gain | - |
PLXNB2 | - | - | - | - | 3 | Gain | - |
PMP2 | - | - | - | - | 3 | Gain | - |
PMPCB | - | - | - | - | 3 | Gain | - |
PMS2 | - | - | - | - | 3 | Gain | - |
PNPLA8 | - | - | - | - | 3 | Gain | - |
PODXL | - | - | - | - | 3 | Gain | - |
POLD2 | - | - | - | - | 3 | Gain | - |
POLM | - | - | - | - | 3 | Gain | - |
POLR1D | - | - | - | - | 3 | Gain | - |
POLR2A | p.R1059Q | Missense | SNP | 0.577 | 2 | - | - |
POLR2J | - | - | - | - | 3 | Gain | - |
POLR2J2 | - | - | - | - | 3 | Gain | - |
POLR2J3 | - | - | - | - | 3 | Gain | - |
POLR2K | - | - | - | - | 3 | Gain | - |
POLR3F | p.Q49H | Missense | SNP | 0.233 | 2 | - | - |
POM121 | - | - | - | - | 3 | Gain | - |
POM121C | - | - | - | - | 3 | Gain | - |
POM121L12 | - | - | - | - | 3 | Gain | - |
POMP | - | - | - | - | 3 | Gain | - |
POMZP3 | - | - | - | - | 3 | Gain | - |
PON1 | - | - | - | - | 3 | Gain | - |
PON2 | - | - | - | - | 3 | Gain | - |
PON3 | - | - | - | - | 3 | Gain | - |
POP1 | - | - | - | - | 3 | Gain | - |
POP7 | - | - | - | - | 3 | Gain | - |
POR | - | - | - | - | 3 | Gain | - |
POSTN | - | - | - | - | 3 | Gain | - |
POT1 | - | - | - | - | 3 | Gain | - |
POU4F1 | - | - | - | - | 3 | Gain | - |
POU5F1B | - | - | - | - | 3 | Gain | - |
POU6F2 | - | - | - | - | 3 | Gain | - |
PPDPFL | - | - | - | - | 3 | Gain | - |
PPFIA3 | p.S519A p.S786I | Missense Missense | SNP SNP | 0.366 0.146 | 2 | - | - |
PPIA | - | - | - | - | 3 | Gain | - |
PPL | p.S1131G | Missense | SNP | 0.222 | 2 | - | - |
PPP1R12B | p.R476Q | Missense | SNP | 0.483 | 2 | - | - |
PPP1R16A | - | - | - | - | 3 | Gain | - |
PPP1R17 | - | - | - | - | 3 | Gain | - |
PPP1R35 | - | - | - | - | 3 | Gain | - |
PPP1R3A | - | - | - | - | 3 | Gain | - |
PPP1R42 | - | - | - | - | 3 | Gain | - |
PPP1R9A | - | - | - | - | 3 | Gain | - |
PRC1 | p.R517Q | Missense | SNP | 0.406 | 2 | - | - |
PRDM14 | - | - | - | - | 3 | Gain | - |
PREX2 | - | - | - | - | 3 | Gain | - |
PRKAA1 | p.*575Qext*? | Nonstop | SNP | 0.464 | 2 | - | - |
PRKAG2 | - | - | - | - | 3 | Gain | - |
PRKAR1B | - | - | - | - | 3 | Gain | - |
PRKAR2B | - | - | - | - | 3 | Gain | - |
PRKCD | p.A137V | Missense | SNP | 0.475 | 2 | - | - |
PRKDC | - | - | - | - | 3 | Gain | - |
PRKRIP1 | - | - | - | - | 3 | Gain | - |
PRMT5 | p.S446L | Missense | SNP | 0.350 | 2 | - | - |
PROSER1 | - | - | - | - | 3 | Gain | - |
PROZ | - | - | - | - | 3 | Gain | - |
PRPF8 | p.M1622T | Missense | SNP | 0.428 | 2 | - | - |
PRPS1L1 | - | - | - | - | 3 | Gain | - |
PRR15 | - | - | - | - | 3 | Gain | - |
PRRT4 | - | - | - | - | 3 | Gain | - |
PRSS1 | - | - | - | - | 3 | Gain | - |
PRSS2 | - | - | - | - | 3 | Gain | - |
PRSS37 | - | - | - | - | 3 | Gain | - |
PRSS58 | - | - | - | - | 3 | Gain | - |
PRUNE2 | p.E1676D | Missense | SNP | 0.253 | 2 | - | - |
PSCA | - | - | - | - | 3 | Gain | - |
PSG1 | - | - | - | - | 1 | Loss | - |
PSG11 | - | - | - | - | 1 | Loss | - |
PSG2 | - | - | - | - | 1 | Loss | - |
PSG3 | p.D50H | Missense | SNP | 0.393 | 2 | - | - |
PSG4 | - | - | - | - | 1 | Loss | - |
PSG5 | - | - | - | - | 1 | Loss | - |
PSG6 | - | - | - | - | 1 | Loss | - |
PSG7 | - | - | - | - | 1 | Loss | - |
PSG8 | - | - | - | - | 1 | Loss | - |
PSG9 | - | - | - | - | 1 | Loss | - |
PSKH2 | - | - | - | - | 3 | Gain | - |
PSMA2 | - | - | - | - | 3 | Gain | - |
PSMC2 | - | - | - | - | 3 | Gain | - |
PSMD3 | p.A85V | Missense | SNP | 0.255 | 2 | - | - |
PSMG3 | - | - | - | - | 3 | Gain | - |
PSPC1 | - | - | - | - | 3 | Gain | - |
PSPH | - | - | - | - | 3 | Gain | - |
PTAR1 | p.Q323R | Missense | SNP | 0.523 | 2 | - | - |
PTCD1 | - | - | - | - | 3 | Gain | - |
PTCH1 | p.P943S | Missense | SNP | 0.569 | 2 | - | - |
PTCHD1 | p.V367I | Missense | SNP | 0.503 | ND | ND | - |
PTDSS1 | - | - | - | - | 3 | Gain | - |
PTGIR | p.G180S | Missense | SNP | 0.467 | 2 | - | - |
PTK2 | - | - | - | - | 3 | Gain | - |
PTN | - | - | - | - | 3 | Gain | - |
PTP4A3 | - | - | - | - | 3 | Gain | - |
PTPA | p.G37C | Missense | SNP | 0.173 | ND | ND | - |
PTPN12 | p.S232R | Missense | SNP | 0.407 | 3 | Gain | - |
PTPN23 | p.A1376T | Missense | SNP | 0.209 | 2 | - | - |
PTPRM | p.Q599* | Nonsense | SNP | 0.454 | 2 | - | - |
PTPRN2 | - | - | - | - | 3 | Gain | - |
PTPRZ1 | - | - | - | - | 3 | Gain | - |
PTX3 | p.A96T | Missense | SNP | 0.447 | 2 | - | - |
PUF60 | - | - | - | - | 3 | Gain | - |
PURB | - | - | - | - | 3 | Gain | - |
PUS7 | - | - | - | - | 3 | Gain | - |
PVRIG | - | - | - | - | 3 | Gain | - |
PWWP2B | p.W504L | Missense | SNP | 0.197 | 2 | - | - |
PXDN | p.A718T | Missense | SNP | 0.151 | 2 | - | - |
PXDNL | - | - | - | - | 3 | Gain | - |
PYCR3 | - | - | - | - | 3 | Gain | - |
QRFPR | p.R43C | Missense | SNP | 0.143 | 2 | - | - |
RAB19 | - | - | - | - | 3 | Gain | - |
RAB20 | - | - | - | - | 3 | Gain | - |
RAB2A | - | - | - | - | 3 | Gain | - |
RAB44 | p.V958M | Missense | SNP | 0.742 | 2 | - | - |
RABGEF1 | - | - | - | - | 3 | Gain | - |
RAC1 | - | - | - | - | 3 | Gain | - |
RAD21 | - | - | - | - | 3 | Gain | - |
RAD54B | - | - | - | - | 3 | Gain | - |
RADIL | p.C588Y | Missense | SNP | 0.103 | 3 | Gain | - |
RALA | - | - | - | - | 3 | Gain | - |
RALYL | - | - | - | - | 3 | Gain | - |
RAMP3 | - | - | - | - | 3 | Gain | - |
RAP1GAP2 | p.A442T | Missense | SNP | 0.193 | 2 | - | - |
RAP2A | - | - | - | - | 3 | Gain | - |
RAPGEF5 | - | - | - | - | 3 | Gain | - |
RARRES2 | - | - | - | - | 3 | Gain | - |
RASA3 | - | - | - | - | 3 | Gain | - |
RASA4 | - | - | - | - | 3 | Gain | - |
RASA4B | - | - | - | - | 3 | Gain | - |
RASL11A | - | - | - | - | 3 | Gain | - |
RB1 | - | - | - | - | 3 | Gain | - |
RB1CC1 | - | - | - | - | 3 | Gain | - |
RBAK | - | - | - | - | 3 | Gain | - |
RBAK-RBAKDN | - | - | - | - | 3 | Gain | - |
RBFOX1 | p.D137G | Missense | SNP | 0.243 | 2 | - | - |
RBM12B | - | - | - | - | 3 | Gain | - |
RBM26 | - | - | - | - | 3 | Gain | - |
RBM28 | - | - | - | - | 3 | Gain | - |
RBM33 | - | - | - | - | 3 | Gain | - |
RBM48 | - | - | - | - | 3 | Gain | - |
RC3H1 | p.R984C | Missense | SNP | 0.134 | 2 | - | - |
RCBTB1 | - | - | - | - | 3 | Gain | - |
RCBTB2 | - | - | - | - | 3 | Gain | - |
RCC1L | - | - | - | - | 3 | Gain | - |
RDH10 | - | - | - | - | 3 | Gain | - |
RECQL4 | - | - | - | - | 3 | Gain | - |
RELN | - | - | - | - | 3 | Gain | - |
REPIN1 | - | - | - | - | 3 | Gain | - |
RERE | p.S32N | Missense | SNP | 0.191 | 2 | - | - |
RFC2 | - | - | - | - | 3 | Gain | - |
RFC3 | - | - | - | - | 3 | Gain | - |
RFXAP | - | - | - | - | 3 | Gain | - |
RGCC | - | - | - | - | 3 | Gain | - |
RGPD1 | - | - | - | - | 0 | Del | - |
RGPD2 | - | - | - | - | 0 | Del | - |
RGR | p.V22M | Missense | SNP | 0.514 | 2 | - | - |
RGS1 | - | - | - | - | 3 | Gain | - |
RGS13 | - | - | - | - | 3 | Gain | - |
RGS14 | p.A108V | Missense | SNP | 0.418 | 2 | - | - |
RGS16 | p.E164K | Missense | SNP | 0.469 | 2 | - | - |
RGS18 | - | - | - | - | 3 | Gain | - |
RGS2 | - | - | - | - | 3 | Gain | - |
RGS20 | - | - | - | - | 3 | Gain | - |
RGS21 | - | - | - | - | 3 | Gain | - |
RGS22 | - | - | - | - | 3 | Gain | - |
RHAG | p.G335V | Missense | SNP | 0.292 | 2 | - | - |
RHBDD2 | - | - | - | - | 3 | Gain | - |
RHEB | - | - | - | - | 3 | Gain | - |
RHPN1 | - | - | - | - | 3 | Gain | - |
RIDA | - | - | - | - | 3 | Gain | - |
RIF1 | p.M998T | Missense | SNP | 0.245 | 2 | - | - |
RIMBP2 | p.K1041N | Missense | SNP | 0.564 | 2 | - | - |
RIMS2 | - | - | - | - | 3 | Gain | - |
RINT1 | - | - | - | - | 3 | Gain | - |
RIPK2 | - | - | - | - | 3 | Gain | - |
RMDN1 | - | - | - | - | 3 | Gain | - |
RMI1 | p.G108* | Nonsense | SNP | 0.196 | 2 | - | - |
RNASEH2B | - | - | - | - | 3 | Gain | - |
RNF113B | - | - | - | - | 3 | Gain | - |
RNF133 | - | - | - | - | 3 | Gain | - |
RNF139 | - | - | - | - | 3 | Gain | - |
RNF148 | - | - | - | - | 3 | Gain | - |
RNF157 | p.R91Q | Missense | SNP | 0.451 | 2 | - | - |
RNF17 | - | - | - | - | 3 | Gain | - |
RNF19A | - | - | - | - | 3 | Gain | - |
RNF216 | - | - | - | - | 3 | Gain | - |
RNF219 | - | - | - | - | 3 | Gain | - |
RNF32 | - | - | - | - | 3 | Gain | - |
RNF6 | - | - | - | - | 3 | Gain | - |
RNPC3 | p.K437E | Missense | SNP | 0.417 | 2 | - | - |
RP1 | - | - | - | - | 3 | Gain | - |
RP5-1187M17.10 | p.R542W | Missense | SNP | 0.441 | ND | ND | - |
RP5-862P8.2 | p.T1012I | Missense | SNP | 0.335 | ND | ND | - |
RP9 | - | - | - | - | 3 | Gain | - |
RPA3 | - | - | - | - | 3 | Gain | - |
RPL19 | p.K181E | Missense | SNP | 0.430 | 2 | - | - |
RPL21 | - | - | - | - | 3 | Gain | - |
RPL30 | - | - | - | - | 3 | Gain | - |
RPL7 | - | - | - | - | 3 | Gain | - |
RPL8 | - | - | - | - | 3 | Gain | - |
RPS20 | - | - | - | - | 3 | Gain | - |
RREB1 | p.S65P | Missense | SNP | 0.944 | 2 | - | - |
RRM2B | - | - | - | - | 3 | Gain | - |
RRS1 | - | - | - | - | 3 | Gain | - |
RSBN1L | - | - | - | - | 3 | Gain | - |
RSPH10B | - | - | - | - | 3 | Gain | - |
RSPH10B2 | - | - | - | - | 3 | Gain | - |
RSPO2 | - | - | - | - | 3 | Gain | - |
RUBCNL | - | - | - | - | 3 | Gain | - |
RUFY2 | p.S256N | Missense | SNP | 0.147 | 2 | - | - |
RUNDC3B | - | - | - | - | 3 | Gain | - |
RUNX1T1 | - | - | - | - | 3 | Gain | - |
RXFP2 | - | - | - | - | 3 | Gain | - |
RYR2 | p.R2359Q | Missense | SNP | 0.387 | 2 | - | - |
SACS | - | - | - | - | 3 | Gain | - |
SAMD11 | p.H582R | Missense | SNP | 0.455 | 2 | - | - |
SAMD12 | - | - | - | - | 3 | Gain | - |
SAMD7 | p.X29_splice | Splice_Site | SNP | 0.489 | 2 | - | - |
SAMD9 | - | - | - | - | 3 | Gain | - |
SAMD9L | - | - | - | - | 3 | Gain | - |
SAP18 | - | - | - | - | 3 | Gain | - |
SAP25 | - | - | - | - | 3 | Gain | - |
SBDS | - | - | - | - | 3 | Gain | - |
SBSPON | - | - | - | - | 3 | Gain | - |
SCAMP3 | p.P146H | Missense | SNP | 0.232 | 2 | - | - |
SCEL | - | - | - | - | 3 | Gain | - |
SCIN | - | - | - | - | 3 | Gain | - |
SCN4A | p.R22W | Missense | SNP | 0.429 | 2 | - | - |
SCRIB | - | - | - | - | 3 | Gain | - |
SCRN1 | - | - | - | - | 3 | Gain | - |
SCRT1 | - | - | - | - | 3 | Gain | - |
SCX | - | - | - | - | 3 | Gain | - |
SDC2 | - | - | - | - | 3 | Gain | - |
SDCBP | - | - | - | - | 3 | Gain | - |
SDHAF3 | - | - | - | - | 3 | Gain | - |
SDK1 | - | - | - | - | 3 | Gain | - |
SDR16C5 | - | - | - | - | 3 | Gain | - |
SEC24D | p.V170G | Missense | SNP | 0.446 | 2 | - | - |
SEC61A1 | p.R223C | Missense | SNP | 0.512 | 2 | - | - |
SEC61G | - | - | - | - | 3 | Gain | - |
SEC63 | p.T153M | Missense | SNP | 0.211 | 2 | - | - |
SECISBP2 | p.L637F | Missense | SNP | 0.514 | 2 | - | - |
SEM1 | - | - | - | - | 3 | Gain | - |
SEMA3A | - | - | - | - | 3 | Gain | - |
SEMA3C | - | - | - | - | 3 | Gain | - |
SEMA3D | - | - | - | - | 3 | Gain | - |
SEMA3E | - | - | - | - | 3 | Gain | - |
SEMA3F | - | - | - | - | 3 | Gain | - |
SEMA6C | p.A891P | Missense | SNP | 0.600 | 2 | - | - |
SEPT14 | - | - | - | - | 3 | Gain | - |
SEPT7 | - | - | - | - | 3 | Gain | - |
SERP2 | - | - | - | - | 3 | Gain | - |
SERPINE1 | - | - | - | - | 3 | Gain | - |
SERPINE3 | - | - | - | - | 3 | Gain | - |
SERTM1 | - | - | - | - | 3 | Gain | - |
SETDB2 | - | - | - | - | 3 | Gain | - |
SFRP4 | - | - | - | - | 3 | Gain | - |
SGCE | - | - | - | - | 3 | Gain | - |
SGCG | - | - | - | - | 3 | Gain | - |
SGK3 | - | - | - | - | 3 | Gain | - |
SH2B2 | - | - | - | - | 3 | Gain | - |
SH3TC1 | p.E702D | Missense | SNP | 0.485 | 2 | - | - |
SHARPIN | - | - | - | - | 3 | Gain | - |
SHH | - | - | - | - | 3 | Gain | - |
SHISA2 | - | - | - | - | 3 | Gain | - |
SHROOM4 | p.R1431W | Missense | SNP | 0.361 | ND | ND | - |
SHTN1 | p.E412* | Nonsense | SNP | 0.394 | 2 | - | - |
SIAH3 | - | - | - | - | 3 | Gain | - |
SKA3 | - | - | - | - | 3 | Gain | - |
SKAP2 | - | - | - | - | 3 | Gain | - |
SLA | - | - | - | - | 3 | Gain | - |
SLAIN1 | - | - | - | - | 3 | Gain | - |
SLC10A2 | - | - | - | - | 3 | Gain | - |
SLC10A5 | - | - | - | - | 3 | Gain | - |
SLC11A2 | p.I195V | Missense | SNP | 0.494 | 2 | - | - |
SLC12A9 | - | - | - | - | 3 | Gain | - |
SLC13A1 | - | - | - | - | 3 | Gain | - |
SLC13A4 | - | - | - | - | 3 | Gain | - |
SLC15A1 | - | - | - | - | 3 | Gain | - |
SLC25A13 | - | - | - | - | 3 | Gain | - |
SLC25A15 | p.G165D | Missense | SNP | 0.171 | 3 | Gain | - |
SLC25A30 | - | - | - | - | 3 | Gain | - |
SLC25A32 | - | - | - | - | 3 | Gain | - |
SLC25A38 | p.R6G | Missense | SNP | 0.472 | 2 | - | - |
SLC25A40 | - | - | - | - | 3 | Gain | - |
SLC25A42 | p.K212E | Missense | SNP | 0.450 | 2 | - | - |
SLC26A3 | - | - | - | - | 3 | Gain | - |
SLC26A4 | - | - | - | - | 3 | Gain | - |
SLC26A5 | - | - | - | - | 3 | Gain | - |
SLC26A7 | - | - | - | - | 3 | Gain | - |
SLC29A4 | - | - | - | - | 3 | Gain | - |
SLC30A8 | - | - | - | - | 3 | Gain | - |
SLC35B4 | - | - | - | - | 3 | Gain | - |
SLC35E2A | - | - | - | - | 1 | Loss | - |
SLC35E2B | - | - | - | - | 1 | Loss | - |
SLC36A1 | p.A438T | Missense | SNP | 0.530 | 2 | - | - |
SLC37A3 | - | - | - | - | 3 | Gain | - |
SLC38A3 | - | - | - | - | 3 | Gain | - |
SLC38A7 | - | - | - | - | 1 | Loss | - |
SLC39A4 | - | - | - | - | 3 | Gain | - |
SLC45A4 | - | - | - | - | 3 | Gain | - |
SLC46A3 | - | - | - | - | 3 | Gain | - |
SLC47A2 | p.D11N | Missense | SNP | 0.505 | 2 | - | - |
SLC4A2 | - | - | - | - | 3 | Gain | - |
SLC52A2 | - | - | - | - | 3 | Gain | - |
SLC7A1 | - | - | - | - | 3 | Gain | - |
SLC7A13 | - | - | - | - | 3 | Gain | - |
SLCO5A1 | - | - | - | - | 3 | Gain | - |
SLIT1 | p.A1015T | Missense | SNP | 0.432 | 2 | - | - |
SLITRK1 | - | - | - | - | 3 | Gain | - |
SLITRK2 | p.T288I p.Q371* | Missense Nonsense | SNP SNP | 0.381 0.391 | ND | ND | - |
SLITRK5 | - | - | - | - | 3 | Gain | - |
SLITRK6 | - | - | - | - | 3 | Gain | - |
SLURP1 | - | - | - | - | 3 | Gain | - |
SLURP2 | - | - | - | - | 3 | Gain | - |
SMAD9 | - | - | - | - | 3 | Gain | - |
SMARCD3 | - | - | - | - | 3 | Gain | - |
SMG1 | p.L2827P | Missense | SNP | 0.250 | 2 | - | - |
SMIM2 | - | - | - | - | 3 | Gain | - |
SMIM30 | - | - | - | - | 3 | Gain | - |
SMKR1 | - | - | - | - | 3 | Gain | - |
SMO | - | - | - | - | 3 | Gain | - |
SMOX | p.V109M | Missense | SNP | 0.576 | 2 | - | - |
SMURF1 | - | - | - | - | 3 | Gain | - |
SNAI2 | - | - | - | - | 3 | Gain | - |
SND1 | - | - | - | - | 3 | Gain | - |
SNRNP70 | p.E344D | Missense | SNP | 0.147 | 2 | - | - |
SNRPB2 | p.F210I | Missense | SNP | 0.452 | 2 | - | - |
SNTB1 | - | - | - | - | 3 | Gain | - |
SNTG1 | - | - | - | - | 3 | Gain | - |
SNX10 | - | - | - | - | 3 | Gain | - |
SNX13 | - | - | - | - | 3 | Gain | - |
SNX16 | - | - | - | - | 3 | Gain | - |
SNX31 | - | - | - | - | 3 | Gain | - |
SNX8 | - | - | - | - | 3 | Gain | - |
SOHLH2 | - | - | - | - | 3 | Gain | - |
SORCS1 | p.X581_splice | Splice_Site | SNP | 0.193 | 2 | - | - |
SOSTDC1 | - | - | - | - | 3 | Gain | - |
SOX1 | - | - | - | - | 3 | Gain | - |
SOX11 | p.R204H | Missense | SNP | 0.236 | 2 | - | - |
SOX17 | - | - | - | - | 3 | Gain | - |
SOX21 | - | - | - | - | 3 | Gain | - |
SOX9 | p.R437P | Missense | SNP | 0.433 | 2 | - | - |
SP4 | - | - | - | - | 3 | Gain | - |
SP8 | p.R445C | Missense | SNP | 0.285 | 3 | Gain | - |
SPACA7 | - | - | - | - | 3 | Gain | - |
SPAG1 | - | - | - | - | 3 | Gain | - |
SPAM1 | - | - | - | - | 3 | Gain | - |
SPART | - | - | - | - | 3 | Gain | - |
SPATA13 | - | - | - | - | 3 | Gain | - |
SPATA32 | p.P279H | Missense | SNP | 0.469 | 2 | - | - |
SPATA48 | - | - | - | - | 3 | Gain | - |
SPATC1 | - | - | - | - | 3 | Gain | - |
SPDYE3 | - | - | - | - | 3 | Gain | - |
SPEG | p.R689H | Missense | SNP | 0.630 | 2 | - | - |
SPEN | p.V489I | Missense | SNP | 0.494 | 2 | - | - |
SPERT | - | - | - | - | 3 | Gain | - |
SPG20 | p.W419C | Missense | SNP | 0.279 | ND | ND | - |
SPHKAP | p.E1203K | Missense | SNP | 0.507 | 2 | - | - |
SPIDR | - | - | - | - | 3 | Gain | - |
SPRY2 | - | - | - | - | 3 | Gain | - |
SPRYD7 | - | - | - | - | 3 | Gain | - |
SQLE | - | - | - | - | 3 | Gain | - |
SRI | - | - | - | - | 3 | Gain | - |
SRL | p.R398H | Missense | SNP | 0.426 | 2 | - | - |
SRPK2 | - | - | - | - | 3 | Gain | - |
SRRM3 | - | - | - | - | 3 | Gain | - |
SRRM4 | p.S527Y | Missense | SNP | 0.600 | 2 | - | - |
SRRT | - | - | - | - | 3 | Gain | - |
SS18 | p.R312G | Missense | SNP | 0.205 | 2 | - | - |
SSBP1 | - | - | - | - | 3 | Gain | - |
SSC4D | - | - | - | - | 3 | Gain | - |
SSMEM1 | - | - | - | - | 3 | Gain | - |
SSPO | p.S4617A | Missense | SNP | 0.303 | 3 | Gain | - |
SSU72P8 | - | - | - | - | 3 | Gain | - |
ST18 | p.C121R | Missense | SNP | 0.103 | 3 | Gain | - |
ST3GAL1 | - | - | - | - | 3 | Gain | - |
ST7 | - | - | - | - | 3 | Gain | - |
STAG3 | - | - | - | - | 3 | Gain | - |
STARD13 | - | - | - | - | 3 | Gain | - |
STARD3 | p.G280S | Missense | SNP | 0.110 | 2 | - | - |
STARD3NL | - | - | - | - | 3 | Gain | - |
STAT5B | p.A714T | Missense | SNP | 0.708 | 2 | - | - |
STAU2 | - | - | - | - | 3 | Gain | - |
STEAP1 | - | - | - | - | 3 | Gain | - |
STEAP1B | - | - | - | - | 3 | Gain | - |
STEAP2 | - | - | - | - | 3 | Gain | - |
STEAP4 | - | - | - | - | 3 | Gain | - |
STK17A | - | - | - | - | 3 | Gain | - |
STK24 | - | - | - | - | 3 | Gain | - |
STK3 | - | - | - | - | 3 | Gain | - |
STK31 | - | - | - | - | 3 | Gain | - |
STMN2 | - | - | - | - | 3 | Gain | - |
STMP1 | - | - | - | - | 3 | Gain | - |
STOML3 | - | - | - | - | 3 | Gain | - |
STOX2 | p.R371Q | Missense | SNP | 0.460 | 2 | - | - |
STPG1 | p.N252S | Missense | SNP | 0.212 | 2 | - | - |
STRA8 | - | - | - | - | 3 | Gain | - |
STRIP2 | - | - | - | - | 3 | Gain | - |
STX1A | - | - | - | - | 3 | Gain | - |
STYXL1 | - | - | - | - | 3 | Gain | - |
SUCLA2 | - | - | - | - | 3 | Gain | - |
SUGCT | - | - | - | - | 3 | Gain | - |
SUGT1 | - | - | - | - | 3 | Gain | - |
SULF1 | - | - | - | - | 3 | Gain | - |
SUMF2 | - | - | - | - | 3 | Gain | - |
SUN1 | - | - | - | - | 3 | Gain | - |
SUN3 | - | - | - | - | 3 | Gain | - |
SUPT20H | - | - | - | - | 3 | Gain | - |
SVOPL | - | - | - | - | 3 | Gain | - |
SYBU | - | - | - | - | 3 | Gain | - |
SYPL1 | - | - | - | - | 3 | Gain | - |
SYT16 | p.R298C | Missense | SNP | 0.245 | 2 | - | - |
SZT2 | p.S2439P | Missense | SNP | 0.500 | 2 | - | - |
TAC1 | - | - | - | - | 3 | Gain | - |
TAF2 | - | - | - | - | 3 | Gain | - |
TAF6 | - | - | - | - | 3 | Gain | - |
TAS2R16 | - | - | - | - | 3 | Gain | - |
TAS2R3 | - | - | - | - | 3 | Gain | - |
TAS2R38 | - | - | - | - | 3 | Gain | - |
TAS2R39 | - | - | - | - | 3 | Gain | - |
TAS2R4 | - | - | - | - | 3 | Gain | - |
TAS2R40 | - | - | - | - | 3 | Gain | - |
TAS2R41 | - | - | - | - | 3 | Gain | - |
TAS2R5 | - | - | - | - | 3 | Gain | - |
TAS2R60 | - | - | - | - | 3 | Gain | - |
TATDN1 | - | - | - | - | 3 | Gain | - |
TAX1BP1 | - | - | - | - | 3 | Gain | - |
TBC1D17 | p.Q146H | Missense | SNP | 0.237 | 2 | - | - |
TBC1D31 | - | - | - | - | 3 | Gain | - |
TBC1D4 | - | - | - | - | 3 | Gain | - |
TBL2 | - | - | - | - | 3 | Gain | - |
TBRG4 | - | - | - | - | 3 | Gain | - |
TBX20 | - | - | - | - | 3 | Gain | - |
TBX21 | p.R70H | Missense | SNP | 0.519 | 2 | - | - |
TBXAS1 | - | - | - | - | 3 | Gain | - |
TCAF1 | - | - | - | - | 3 | Gain | - |
TCAF2 | - | - | - | - | 3 | Gain | - |
TCEA1 | - | - | - | - | 3 | Gain | - |
TCF24 | - | - | - | - | 3 | Gain | - |
TDRD3 | - | - | - | - | 3 | Gain | - |
TECPR1 | - | - | - | - | 3 | Gain | - |
TENM1 | p.E2439V | Missense | SNP | 0.381 | ND | ND | - |
TERF1 | - | - | - | - | 3 | Gain | - |
TERF2IP | p.G60V | Missense | SNP | 0.421 | 2 | - | - |
TES | - | - | - | - | 3 | Gain | - |
TEX13C | p.G169S | Missense | SNP | 0.469 | ND | ND | - |
TEX26 | - | - | - | - | 3 | Gain | - |
TEX29 | - | - | - | - | 3 | Gain | - |
TEX30 | - | - | - | - | 3 | Gain | - |
TEX47 | - | - | - | - | 3 | Gain | - |
TFDP1 | - | - | - | - | 3 | Gain | - |
TFEC | - | - | - | - | 3 | Gain | - |
TFPI2 | p.R5H | Missense | SNP | 0.101 | 3 | Gain | - |
TFR2 | - | - | - | - | 3 | Gain | - |
TG | - | - | - | - | 3 | Gain | - |
TGDS | - | - | - | - | 3 | Gain | - |
TGS1 | - | - | - | - | 3 | Gain | - |
THAP5 | - | - | - | - | 3 | Gain | - |
THAP9 | p.X194_splice | Splice_Site | SNP | 0.189 | 2 | - | - |
THEM6 | - | - | - | - | 3 | Gain | - |
THSD1 | - | - | - | - | 3 | Gain | - |
THSD7A | - | - | - | - | 3 | Gain | - |
THSD7B | p.P447T | Missense | SNP | 0.460 | 2 | - | - |
TIGD5 | - | - | - | - | 3 | Gain | - |
TLR1 | p.A774T | Missense | SNP | 0.122 | 2 | - | - |
TLR9 | p.R986C | Missense | SNP | 0.554 | 2 | - | - |
TM9SF2 | - | - | - | - | 3 | Gain | - |
TMC7 | p.S590P | Missense | SNP | 0.360 | 2 | - | - |
TMCO3 | - | - | - | - | 3 | Gain | - |
TMED4 | - | - | - | - | 3 | Gain | - |
TMEM106B | - | - | - | - | 3 | Gain | - |
TMEM120A | - | - | - | - | 3 | Gain | - |
TMEM130 | - | - | - | - | 3 | Gain | - |
TMEM139 | - | - | - | - | 3 | Gain | - |
TMEM140 | - | - | - | - | 3 | Gain | - |
TMEM151A | p.G412S | Missense | SNP | 0.509 | 2 | - | - |
TMEM168 | - | - | - | - | 3 | Gain | - |
TMEM176A | - | - | - | - | 3 | Gain | - |
TMEM176B | - | - | - | - | 3 | Gain | - |
TMEM178A | p.A50V | Missense | SNP | 0.408 | 2 | - | - |
TMEM178B | - | - | - | - | 3 | Gain | - |
TMEM184A | - | - | - | - | 3 | Gain | - |
TMEM196 | - | - | - | - | 3 | Gain | - |
TMEM204 | p.R100H | Missense | SNP | 0.477 | 2 | - | - |
TMEM209 | - | - | - | - | 3 | Gain | - |
TMEM213 | - | - | - | - | 3 | Gain | - |
TMEM225B | - | - | - | - | 3 | Gain | - |
TMEM229A | - | - | - | - | 3 | Gain | - |
TMEM243 | - | - | - | - | 3 | Gain | - |
TMEM248 | - | - | - | - | 3 | Gain | - |
TMEM249 | - | - | - | - | 3 | Gain | - |
TMEM255B | - | - | - | - | 3 | Gain | - |
TMEM270 | - | - | - | - | 3 | Gain | - |
TMEM272 | - | - | - | - | 3 | Gain | - |
TMEM47 | p.A89T | Missense | SNP | 0.429 | ND | ND | - |
TMEM60 | - | - | - | - | 3 | Gain | - |
TMEM64 | - | - | - | - | 3 | Gain | - |
TMEM65 | - | - | - | - | 3 | Gain | - |
TMEM67 | - | - | - | - | 3 | Gain | - |
TMEM68 | - | - | - | - | 3 | Gain | - |
TMEM70 | - | - | - | - | 3 | Gain | - |
TMEM71 | - | - | - | - | 3 | Gain | - |
TMEM74 | - | - | - | - | 3 | Gain | - |
TMEM94 | . | Splice_Site | SNP | 0.528 | 2 | - | - |
TMTC4 | - | - | - | - | 3 | Gain | - |
TMUB1 | - | - | - | - | 3 | Gain | - |
TNFRSF11B | - | - | - | - | 3 | Gain | - |
TNFRSF19 | - | - | - | - | 3 | Gain | - |
TNFSF11 | - | - | - | - | 3 | Gain | - |
TNFSF13B | - | - | - | - | 3 | Gain | - |
TNPO3 | - | - | - | - | 3 | Gain | - |
TNRC18 | - | - | - | - | 3 | Gain | - |
TNS1 | p.L672S | Missense | SNP | 0.222 | 2 | - | - |
TNS3 | - | - | - | - | 3 | Gain | - |
TOMM7 | - | - | - | - | 3 | Gain | - |
TONSL | - | - | - | - | 3 | Gain | - |
TOP1MT | - | - | - | - | 3 | Gain | - |
TOR2A | p.K72N | Missense | SNP | 0.494 | ND | ND | - |
TOX | - | - | - | - | 3 | Gain | - |
TP53INP1 | - | - | - | - | 3 | Gain | - |
TPD52 | - | - | - | - | 3 | Gain | - |
TPK1 | - | - | - | - | 3 | Gain | - |
TPO | p.L519R | Missense | SNP | 0.135 | 2 | - | - |
TPP2 | - | - | - | - | 3 | Gain | - |
TPST1 | - | - | - | - | 3 | Gain | - |
TPT1 | - | - | - | - | 3 | Gain | - |
TPTE2 | - | - | - | - | 3 | Gain | - |
TRA2A | - | - | - | - | 3 | Gain | - |
TRAM1 | - | - | - | - | 3 | Gain | - |
TRANK1 | p.S987R | Missense | SNP | 0.462 | 2 | - | - |
TRAPPC8 | p.R901* | Nonsense | SNP | 0.517 | 2 | - | - |
TRAPPC9 | - | - | - | - | 3 | Gain | - |
TRHR | - | - | - | - | 3 | Gain | - |
TRIB1 | - | - | - | - | 3 | Gain | - |
TRIL | - | - | - | - | 3 | Gain | - |
TRIM13 | - | - | - | - | 3 | Gain | - |
TRIM24 | - | - | - | - | 3 | Gain | - |
TRIM4 | p.X281_splice | Splice_Site | DNP | 0.303 | 3 | Gain | - |
TRIM50 | - | - | - | - | 3 | Gain | - |
TRIM55 | - | - | - | - | 3 | Gain | - |
TRIM56 | - | - | - | - | 3 | Gain | - |
TRIM71 | p.G276S | Missense | SNP | 0.546 | 2 | - | - |
TRIM73 | - | - | - | - | 3 | Gain | - |
TRIM74 | - | - | - | - | 3 | Gain | - |
TRIM8 | p.V512I | Missense | SNP | 0.241 | 2 | - | - |
TRIML2 | p.P429H | Missense | SNP | 0.160 | 2 | - | - |
TRIO | p.E1159* | Nonsense | SNP | 0.165 | 2 | - | - |
TRIP4 | p.R254* | Nonsense | SNP | 0.512 | 2 | - | - |
TRIP6 | - | - | - | - | 3 | Gain | - |
TRIQK | - | - | - | - | 3 | Gain | - |
TRMT12 | - | - | - | - | 3 | Gain | - |
TRPA1 | - | - | - | - | 3 | Gain | - |
TRPC4 | - | - | - | - | 3 | Gain | - |
TRPS1 | p.Y856C | Missense | SNP | 0.398 | 3 | Gain | - |
TRPV5 | - | - | - | - | 3 | Gain | - |
TRPV6 | - | - | - | - | 3 | Gain | - |
TRRAP | - | - | - | - | 3 | Gain | - |
TSC22D1 | - | - | - | - | 3 | Gain | - |
TSC22D4 | - | - | - | - | 3 | Gain | - |
TSGA13 | - | - | - | - | 3 | Gain | - |
TSHZ2 | p.Y18C | Missense | SNP | 0.476 | 2 | - | - |
TSNARE1 | - | - | - | - | 3 | Gain | - |
TSPAN12 | - | - | - | - | 3 | Gain | - |
TSPAN13 | - | - | - | - | 3 | Gain | - |
TSPAN33 | - | - | - | - | 3 | Gain | - |
TSPYL5 | - | - | - | - | 3 | Gain | - |
TSSK1B | p.A50T | Missense | SNP | 0.455 | 2 | - | - |
TSTA3 | - | - | - | - | 3 | Gain | - |
TTC26 | - | - | - | - | 3 | Gain | - |
TTI1 | p.E583G | Missense | SNP | 0.460 | 2 | - | - |
TTN | p.H12082N | Missense | SNP | 0.500 | 2 | - | - |
TTPA | - | - | - | - | 3 | Gain | - |
TTYH3 | - | - | - | - | 3 | Gain | - |
TUBA3C | - | - | - | - | 3 | Gain | - |
TUBGCP3 | - | - | - | - | 3 | Gain | - |
TULP4 | p.P959S | Missense | SNP | 0.484 | 2 | - | - |
TWIST1 | - | - | - | - | 3 | Gain | - |
TWISTNB | - | - | - | - | 3 | Gain | - |
TYW1 | - | - | - | - | 3 | Gain | - |
TYW1B | - | - | - | - | 3 | Gain | - |
UBAC2 | - | - | - | - | 3 | Gain | - |
UBE2D4 | - | - | - | - | 3 | Gain | - |
UBE2H | - | - | - | - | 3 | Gain | - |
UBE2L5 | - | - | - | - | 3 | Gain | - |
UBE2V2 | - | - | - | - | 3 | Gain | - |
UBE2W | - | - | - | - | 3 | Gain | - |
UBE3C | - | - | - | - | 3 | Gain | - |
UBL3 | - | - | - | - | 3 | Gain | - |
UBN2 | - | - | - | - | 3 | Gain | - |
UBR5 | - | - | - | - | 3 | Gain | - |
UBXN2B | - | - | - | - | 3 | Gain | - |
UCHL3 | - | - | - | - | 3 | Gain | - |
UFM1 | - | - | - | - | 3 | Gain | - |
UFSP1 | - | - | - | - | 3 | Gain | - |
UGGT2 | - | - | - | - | 3 | Gain | - |
UMAD1 | - | - | - | - | 3 | Gain | - |
UNCX | - | - | - | - | 3 | Gain | - |
UPF3A | - | - | - | - | 3 | Gain | - |
UPK3B | - | - | - | - | 3 | Gain | - |
UPK3BL1 | - | - | - | - | 3 | Gain | - |
UPP1 | - | - | - | - | 3 | Gain | - |
UQCRB | - | - | - | - | 3 | Gain | - |
URAD | - | - | - | - | 3 | Gain | - |
URGCP | - | - | - | - | 3 | Gain | - |
URGCP-MRPS24 | - | - | - | - | 3 | Gain | - |
USP12 | - | - | - | - | 3 | Gain | - |
USP36 | p.S715A | Missense | SNP | 0.216 | 2 | - | - |
USP42 | - | - | - | - | 3 | Gain | - |
USP47 | p.R923* | Nonsense | SNP | 0.466 | 2 | - | - |
USP5 | p.R746W | Missense | SNP | 0.396 | 2 | - | - |
USP51 | p.L588I | Missense | SNP | 0.226 | ND | ND | - |
USP6 | p.T1391M | Missense | SNP | 0.346 | 2 | - | - |
USPL1 | - | - | - | - | 3 | Gain | - |
UTP14C | - | - | - | - | 3 | Gain | - |
UTP23 | - | - | - | - | 3 | Gain | - |
VCPIP1 | - | - | - | - | 3 | Gain | - |
VGF | - | - | - | - | 3 | Gain | - |
VIM | p.A302V | Missense | SNP | 0.171 | 2 | - | - |
VIPR2 | - | - | - | - | 3 | Gain | - |
VIRMA | - | - | - | - | 3 | Gain | - |
VKORC1L1 | - | - | - | - | 3 | Gain | - |
VOPP1 | - | - | - | - | 3 | Gain | - |
VPS13B | - | - | - | - | 3 | Gain | - |
VPS28 | - | - | - | - | 3 | Gain | - |
VPS36 | - | - | - | - | 3 | Gain | - |
VPS37D | - | - | - | - | 3 | Gain | - |
VPS41 | - | - | - | - | 3 | Gain | - |
VPS50 | - | - | - | - | 3 | Gain | - |
VSTM2A | - | - | - | - | 3 | Gain | - |
VWA8 | - | - | - | - | 3 | Gain | - |
VWC2 | - | - | - | - | 3 | Gain | - |
VWDE | - | - | - | - | 3 | Gain | - |
VXN | - | - | - | - | 3 | Gain | - |
WASF3 | - | - | - | - | 3 | Gain | - |
WASHC5 | - | - | - | - | 3 | Gain | - |
WASL | - | - | - | - | 3 | Gain | - |
WBP4 | - | - | - | - | 3 | Gain | - |
WDFY2 | - | - | - | - | 3 | Gain | - |
WDR3 | p.L873R | Missense | SNP | 0.127 | 2 | - | - |
WDR36 | p.R635H | Missense | SNP | 0.422 | 2 | - | - |
WDR60 | - | - | - | - | 3 | Gain | - |
WDR81 | p.M1757T | Missense | SNP | 0.186 | 2 | - | - |
WDR86 | - | - | - | - | 3 | Gain | - |
WDR91 | - | - | - | - | 3 | Gain | - |
WDR97 | p.X1008_splice | Splice_Site | SNP | 0.505 | 3 | Gain | - |
WDYHV1 | - | - | - | - | 3 | Gain | - |
WEE2 | - | - | - | - | 3 | Gain | - |
WFIKKN2 | p.E532G | Missense | SNP | 0.511 | 2 | - | - |
WIPF3 | - | - | - | - | 3 | Gain | - |
WIPI2 | - | - | - | - | 3 | Gain | - |
WISP1 | - | - | - | - | 3 | Gain | - |
WIZ | p.E38D | Missense | SNP | 0.348 | 2 | - | - |
WLS | p.M352T | Missense | SNP | 0.544 | 2 | - | - |
WNT16 | - | - | - | - | 3 | Gain | - |
WNT2 | - | - | - | - | 3 | Gain | - |
WWP1 | - | - | - | - | 3 | Gain | - |
WWP2 | p.R34H | Missense | SNP | 0.372 | 2 | - | - |
XKR4 | - | - | - | - | 3 | Gain | - |
XKR9 | - | - | - | - | 3 | Gain | - |
XPO4 | - | - | - | - | 3 | Gain | - |
XRCC2 | - | - | - | - | 3 | Gain | - |
XRN1 | p.R1108H | Missense | SNP | 0.316 | 2 | - | - |
YAE1 | - | - | - | - | 3 | Gain | - |
YKT6 | - | - | - | - | 3 | Gain | - |
YTHDC1 | p.L348P | Missense | SNP | 0.149 | 2 | - | - |
YTHDF3 | - | - | - | - | 3 | Gain | - |
YWHAG | - | - | - | - | 3 | Gain | - |
YWHAZ | - | - | - | - | 3 | Gain | - |
ZAN | - | - | - | - | 3 | Gain | - |
ZAR1L | - | - | - | - | 3 | Gain | - |
ZBED6CL | - | - | - | - | 3 | Gain | - |
ZBTB10 | - | - | - | - | 3 | Gain | - |
ZBTB46 | p.R457W | Missense | SNP | 0.274 | 2 | - | - |
ZC2HC1A | - | - | - | - | 3 | Gain | - |
ZC3H13 | - | - | - | - | 3 | Gain | - |
ZC3H3 | - | - | - | - | 3 | Gain | - |
ZC3HAV1 | - | - | - | - | 3 | Gain | - |
ZC3HAV1L | - | - | - | - | 3 | Gain | - |
ZC3HC1 | - | - | - | - | 3 | Gain | - |
ZCWPW1 | - | - | - | - | 3 | Gain | - |
ZDHHC20 | - | - | - | - | 3 | Gain | - |
ZDHHC4 | - | - | - | - | 3 | Gain | - |
ZEB2 | p.R169C | Missense | SNP | 0.305 | 2 | - | - |
ZFAND1 | - | - | - | - | 3 | Gain | - |
ZFAND2A | - | - | - | - | 3 | Gain | - |
ZFAT | - | - | - | - | 3 | Gain | - |
ZFHX4 | p.P469L p.Y2707H | Missense Missense | SNP SNP | 0.420 0.376 | 3 | Gain | - |
ZFP41 | - | - | - | - | 3 | Gain | - |
ZFPM2 | - | - | - | - | 3 | Gain | - |
ZFYVE26 | p.M2404T | Missense | SNP | 0.483 | 2 | - | - |
ZHX1 | - | - | - | - | 3 | Gain | - |
ZHX1-C8orf76 | - | - | - | - | 3 | Gain | - |
ZHX2 | - | - | - | - | 3 | Gain | - |
ZIC2 | - | - | - | - | 3 | Gain | - |
ZIC5 | - | - | - | - | 3 | Gain | - |
ZIK1 | p.P350S | Missense | SNP | 0.177 | 2 | - | - |
ZKSCAN1 | - | - | - | - | 3 | Gain | - |
ZKSCAN5 | - | - | - | - | 3 | Gain | - |
ZKSCAN7 | - | - | - | - | 1 | Loss | - |
ZMIZ2 | - | - | - | - | 3 | Gain | - |
ZMYM2 | p.P806S | Missense | SNP | 0.304 | 3 | Gain | - |
ZMYM5 | - | - | - | - | 3 | Gain | - |
ZMYND8 | p.A406V | Missense | SNP | 0.482 | 2 | - | - |
ZNF107 | - | - | - | - | 3 | Gain | - |
ZNF117 | - | - | - | - | 3 | Gain | - |
ZNF12 | - | - | - | - | 3 | Gain | - |
ZNF138 | - | - | - | - | 3 | Gain | - |
ZNF142 | p.H596R | Missense | SNP | 0.140 | 2 | - | - |
ZNF16 | - | - | - | - | 3 | Gain | - |
ZNF197 | - | - | - | - | 1 | Loss | - |
ZNF212 | - | - | - | - | 3 | Gain | - |
ZNF250 | - | - | - | - | 3 | Gain | - |
ZNF251 | - | - | - | - | 3 | Gain | - |
ZNF273 | - | - | - | - | 3 | Gain | - |
ZNF277 | - | - | - | - | 3 | Gain | - |
ZNF282 | - | - | - | - | 3 | Gain | - |
ZNF3 | - | - | - | - | 3 | Gain | - |
ZNF316 | - | - | - | - | 3 | Gain | - |
ZNF34 | - | - | - | - | 3 | Gain | - |
ZNF35 | - | - | - | - | 1 | Loss | - |
ZNF394 | - | - | - | - | 3 | Gain | - |
ZNF398 | - | - | - | - | 3 | Gain | - |
ZNF408 | p.R72C | Missense | SNP | 0.176 | 2 | - | - |
ZNF425 | - | - | - | - | 3 | Gain | - |
ZNF467 | - | - | - | - | 3 | Gain | - |
ZNF479 | p.W252C | Missense | SNP | 0.617 | 3 | Gain | - |
ZNF490 | p.R210Q | Missense | SNP | 0.444 | 2 | - | - |
ZNF501 | - | - | - | - | 1 | Loss | - |
ZNF502 | - | - | - | - | 1 | Loss | - |
ZNF516 | p.G817A | Missense | SNP | 0.228 | 2 | - | - |
ZNF517 | - | - | - | - | 3 | Gain | - |
ZNF572 | - | - | - | - | 3 | Gain | - |
ZNF606 | p.V23A | Missense | SNP | 0.481 | 2 | - | - |
ZNF623 | - | - | - | - | 3 | Gain | - |
ZNF655 | - | - | - | - | 3 | Gain | - |
ZNF660 | - | - | - | - | 1 | Loss | - |
ZNF672 | p.T241M | Missense | SNP | 0.197 | 2 | - | - |
ZNF679 | - | - | - | - | 3 | Gain | - |
ZNF680 | - | - | - | - | 3 | Gain | - |
ZNF696 | - | - | - | - | 3 | Gain | - |
ZNF7 | - | - | - | - | 3 | Gain | - |
ZNF704 | - | - | - | - | 3 | Gain | - |
ZNF706 | - | - | - | - | 3 | Gain | - |
ZNF707 | - | - | - | - | 3 | Gain | - |
ZNF713 | - | - | - | - | 3 | Gain | - |
ZNF716 | - | - | - | - | 3 | Gain | - |
ZNF727 | - | - | - | - | 3 | Gain | - |
ZNF735 | - | - | - | - | 3 | Gain | - |
ZNF736 | - | - | - | - | 3 | Gain | - |
ZNF746 | - | - | - | - | 3 | Gain | - |
ZNF775 | - | - | - | - | 3 | Gain | - |
ZNF777 | - | - | - | - | 3 | Gain | - |
ZNF781 | p.T145M | Missense | SNP | 0.548 | 2 | - | - |
ZNF783 | - | - | - | - | 3 | Gain | - |
ZNF786 | - | - | - | - | 3 | Gain | - |
ZNF789 | - | - | - | - | 3 | Gain | - |
ZNF800 | - | - | - | - | 3 | Gain | - |
ZNF804B | - | - | - | - | 3 | Gain | - |
ZNF830 | p.R177G | Missense | SNP | 0.538 | 2 | - | - |
ZNF852 | - | - | - | - | 1 | Loss | - |
ZNF853 | - | - | - | - | 3 | Gain | - |
ZNF862 | - | - | - | - | 3 | Gain | - |
ZNF879 | p.A37T | Missense | SNP | 0.235 | 2 | - | - |
ZNF92 | - | - | - | - | 3 | Gain | - |
ZNHIT1 | - | - | - | - | 3 | Gain | - |
ZNRF2 | - | - | - | - | 3 | Gain | - |
ZP3 | - | - | - | - | 3 | Gain | - |
ZPBP | - | - | - | - | 3 | Gain | - |
ZSCAN21 | - | - | - | - | 3 | Gain | - |
ZSCAN25 | - | - | - | - | 3 | Gain | - |
ZYX | - | - | - | - | 3 | Gain | - |