Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | Called |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
A1BG | p.R333H | Missense | SNP | 0.535 | 2 | - | - |
AARD | - | - | - | - | 3 | Gain | - |
ABCC1 | p.I441S | Missense | SNP | 0.511 | 2 | - | - |
ABCG8 | p.R145M | Missense | SNP | 0.464 | 2 | - | - |
ABRA | - | - | - | - | 3 | Gain | - |
AC009879.2 | - | - | - | - | 3 | Gain | - |
AC009879.3 | - | - | - | - | 3 | Gain | - |
AC012213.5 | - | - | - | - | 3 | Gain | - |
AC022826.2 | - | - | - | - | 3 | Gain | - |
AC036214.3 | - | - | - | - | 3 | Gain | - |
AC037459.1 | - | - | - | - | 3 | Gain | - |
AC067968.1 | - | - | - | - | 1 | Loss | - |
AC090360.1 | - | - | - | - | 1 | Loss | - |
AC100868.1 | - | - | - | - | 3 | Gain | - |
AC104389.2 | p.I45V | Missense | SNP | 1.000 | ND | ND | - |
AC107959.5 | - | - | - | - | 3 | Gain | - |
AC110275.1 | - | - | - | - | 3 | Gain | - |
AC138647.1 | - | - | - | - | 3 | Gain | - |
AC138696.1 | - | - | - | - | 3 | Gain | - |
AC144573.1 | - | - | - | - | 3 | Gain | - |
ACAP2 | p.K511N | Missense | SNP | 0.574 | 2 | - | - |
ACE | p.A1194T | Missense | SNP | 0.508 | 2 | - | - |
ACO1 | p.G856D | Missense | SNP | 0.475 | 2 | - | - |
ACOT4 | p.C407R | Missense | SNP | 0.450 | 2 | - | - |
ACRBP | p.T474I | Missense | SNP | 0.398 | 2 | - | - |
ACTC1 | - | - | - | - | 1 | Loss | - |
ACVR2B | p.A61T | Missense | SNP | 0.467 | 2 | - | - |
ADAD1 | p.Y325* | Nonsense | SNP | 0.478 | 2 | - | - |
ADAM18 | - | - | - | - | 3 | Gain | - |
ADAM2 | - | - | - | - | 3 | Gain | - |
ADAM23 | p.N96I | Missense | SNP | 0.495 | 2 | - | - |
ADAM28 | - | - | - | - | 3 | Gain | - |
ADAM32 | - | - | - | - | 3 | Gain | - |
ADAM7 | - | - | - | - | 3 | Gain | - |
ADAM9 | - | - | - | - | 3 | Gain | - |
ADAMDEC1 | - | - | - | - | 3 | Gain | - |
ADAMTS18 | p.P194H | Missense | SNP | 0.442 | 2 | - | - |
ADAMTS5 | p.R54* | Nonsense | SNP | 0.517 | 2 | - | - |
ADCK5 | - | - | - | - | 3 | Gain | - |
ADCY5 | p.R562C | Missense | SNP | 0.484 | 2 | - | - |
ADCY8 | - | - | - | - | 3 | Gain | - |
ADGRA2 | p.L198M | Missense | SNP | 0.570 | 3 | Gain | - |
ADGRA3 | p.T334M | Missense | SNP | 0.643 | 2 | - | - |
ADGRB1 | - | - | - | - | 3 | Gain | - |
ADGRG2 | p.A354V | Missense | SNP | 0.696 | ND | ND | - |
ADHFE1 | - | - | - | - | 3 | Gain | - |
ADORA1 | p.R208H | Missense | SNP | 0.543 | 2 | - | - |
ADRA1A | - | - | - | - | 3 | Gain | - |
ADRA2B | p.G76C | Missense | SNP | 0.459 | 2 | - | - |
ADRB3 | - | - | - | - | 3 | Gain | - |
AGAP1 | p.E209D | Missense | SNP | 0.508 | 2 | - | - |
AGO2 | - | - | - | - | 3 | Gain | - |
AGPAT5 | - | - | - | - | 3 | Gain | - |
AGRP | p.R86H | Missense | SNP | 0.480 | 2 | - | - |
AGTRAP | p.A5V | Missense | SNP | 0.367 | 2 | - | - |
AHNAK | p.G3911C | Missense | SNP | 0.385 | 2 | - | - |
ALDH1B1 | p.G165D | Missense | SNP | 0.508 | 2 | - | - |
ALK | p.A18V | Missense | SNP | 0.617 | 2 | - | - |
ALKAL1 | - | - | - | - | 3 | Gain | - |
AMBRA1 | p.T237M | Missense | SNP | 0.600 | 2 | - | - |
AMER1 | p.T600S | Missense | SNP | 0.410 | ND | ND | - |
AMIGO3 | p.A205T | Missense | SNP | 0.499 | 2 | - | - |
ANGPT1 | - | - | - | - | 3 | Gain | - |
ANGPT2 | - | - | - | - | 3 | Gain | - |
ANK1 | - | - | - | - | 3 | Gain | - |
ANKHD1-EIF4EBP3 | p.P1883H | Missense | SNP | 0.527 | 2 | - | - |
ANKRD17 | p.A458T | Missense | SNP | 0.502 | 2 | - | - |
ANKRD28 | p.L953F | Missense | SNP | 0.481 | 2 | - | - |
ANKRD30B | p.Y453H | Missense | SNP | 0.500 | 2 | - | - |
ANKRD42 | p.V514M | Missense | SNP | 0.480 | 2 | - | - |
ANKRD46 | - | - | - | - | 3 | Gain | - |
ANKRD9 | p.R205C | Missense | SNP | 0.436 | 2 | - | - |
ANKS1A | p.V165A | Missense | SNP | 0.530 | 2 | - | - |
ANKZF1 | p.A721T | Missense | SNP | 0.231 | 2 | - | - |
ANO1 | p.V840G | Missense | SNP | 0.368 | 2 | - | - |
ANOS1 | p.R651W p.P318H | Missense Missense | SNP SNP | 0.540 0.514 | ND | ND | - |
ANXA13 | - | - | - | - | 3 | Gain | - |
AP3B2 | p.D493Y | Missense | SNP | 0.496 | 2 | - | - |
AP3M2 | - | - | - | - | 3 | Gain | - |
APLP2 | p.P604H | Missense | SNP | 0.389 | 2 | - | - |
AQP1 | p.G138D | Missense | SNP | 0.489 | 2 | - | - |
ARC | - | - | - | - | 3 | Gain | - |
ARFGEF1 | p.A575V | Missense | SNP | 0.724 | 3 | Gain | - |
ARHGAP26 | p.V710S | Missense | DNP | 0.466 | 2 | - | - |
ARHGAP39 | - | - | - | - | 3 | Gain | - |
ARHGEF10 | - | - | - | - | 3 | Gain | - |
ARHGEF18 | p.A1015T | Missense | SNP | 0.413 | 2 | - | - |
ARID1A | p.A1682V | Missense | SNP | 0.507 | 2 | - | - |
ARMC1 | - | - | - | - | 3 | Gain | - |
ARMC4 | p.G19* | Nonsense | SNP | 0.508 | 2 | - | - |
ARSH | p.Q527* | Nonsense | SNP | 0.565 | ND | ND | - |
ARSI | p.T386M | Missense | SNP | 0.480 | 2 | - | - |
ARSJ | p.T171M | Missense | SNP | 0.434 | 2 | - | - |
ASAH1 | - | - | - | - | 3 | Gain | - |
ASAH2 | p.T482A | Missense | SNP | 0.469 | 2 | - | - |
ASAP1 | - | - | - | - | 3 | Gain | - |
ASH2L | - | - | - | - | 3 | Gain | - |
ASPG | p.C132R | Missense | SNP | 0.420 | 2 | - | - |
ASPH | - | - | - | - | 3 | Gain | - |
ASPM | p.A3295T | Missense | SNP | 0.578 | 2 | - | - |
ASS1 | p.V269M | Missense | SNP | 0.497 | 2 | - | - |
ASXL1 | p.A809V p.R1289W | Missense Missense | SNP SNP | 0.526 0.476 | 2 | - | - |
ATAD2 | - | - | - | - | 3 | Gain | - |
ATF6 | p.L348P | Missense | SNP | 0.460 | 2 | - | - |
ATF7IP | p.R564C | Missense | SNP | 0.457 | 2 | - | - |
ATG4D | p.V81M | Missense | SNP | 0.500 | 2 | - | - |
ATG5 | p.R15* | Nonsense | SNP | 0.500 | 2 | - | - |
ATP10A | p.F572L | Missense | SNP | 0.463 | 2 | - | - |
ATP11C | p.L1132M | Missense | SNP | 0.534 | ND | ND | - |
ATP13A5 | p.X639_splice | Splice_Site | SNP | 0.578 | 2 | - | - |
ATP2B2 | p.G269* p.E30K | Nonsense Missense | SNP SNP | 0.418 0.498 | 2 | - | - |
ATP6V0D2 | - | - | - | - | 3 | Gain | - |
ATP6V1B2 | - | - | - | - | 3 | Gain | - |
ATP6V1C1 | - | - | - | - | 3 | Gain | - |
ATP6V1H | - | - | - | - | 3 | Gain | - |
ATP9B | - | - | - | - | 1 | Loss | - |
ATXN1L | p.P567H | Missense | SNP | 0.509 | 2 | - | - |
AVL9 | p.G14V | Missense | SNP | 0.505 | 2 | - | - |
AWAT1 | p.T85M | Missense | SNP | 0.442 | ND | ND | - |
AZIN1 | - | - | - | - | 3 | Gain | - |
B3GNT6 | p.R167C | Missense | SNP | 0.469 | 2 | - | - |
B9D1 | p.D98V | Missense | SNP | 0.453 | 2 | - | - |
BAALC | - | - | - | - | 3 | Gain | - |
BAG4 | - | - | - | - | 3 | Gain | - |
BAZ1A | p.A480T | Missense | SNP | 0.494 | 2 | - | - |
BDH1 | p.P30Q | Missense | SNP | 0.441 | 2 | - | - |
BEST3 | p.V244I | Missense | SNP | 0.536 | 2 | - | - |
BHLHE22 | - | - | - | - | 3 | Gain | - |
BIN3 | - | - | - | - | 3 | Gain | - |
BLK | - | - | - | - | 3 | Gain | - |
BMP1 | - | - | - | - | 3 | Gain | - |
BNIP3L | - | - | - | - | 3 | Gain | - |
BNIPL | p.I320M | Missense | SNP | 0.426 | 2 | - | - |
BOD1L1 | p.R2773* p.T2486A | Nonsense Missense | SNP SNP | 0.563 0.503 | 2 | - | - |
BOP1 | - | - | - | - | 3 | Gain | - |
BRAF | p.V600E | Missense | SNP | 0.541 | 2 | - | - |
BRF2 | - | - | - | - | 3 | Gain | - |
BRINP2 | p.L353V | Missense | SNP | 0.425 | 2 | - | - |
BRWD3 | p.G1685* | Nonsense | SNP | 0.473 | ND | ND | - |
BTNL9 | p.G154D | Missense | SNP | 0.471 | 2 | - | - |
C16orf78 | p.M202K | Missense | SNP | 0.450 | 2 | - | - |
C1orf127 | p.P463S | Missense | SNP | 0.441 | 2 | - | - |
C1orf174 | p.P175S | Missense | SNP | 0.456 | 2 | - | - |
C1orf68 | - | - | - | - | 3 | Gain | - |
C2CD5 | p.R181Q | Missense | SNP | 0.431 | 2 | - | - |
C3orf80 | p.A30V | Missense | SNP | 0.578 | 2 | - | - |
C4A | - | - | - | - | 1 | Loss | - |
C4B | - | - | - | - | 1 | Loss | - |
C4BPA | p.A464V | Missense | SNP | 0.535 | 2 | - | - |
C4orf22 | p.E102* | Nonsense | SNP | 0.444 | ND | ND | - |
C6orf15 | - | - | - | - | 3 | Gain | - |
C8orf33 | - | - | - | - | 3 | Gain | - |
C8orf34 | - | - | - | - | 3 | Gain | - |
C8orf37 | - | - | - | - | 3 | Gain | - |
C8orf44 | - | - | - | - | 3 | Gain | - |
C8orf48 | - | - | - | - | 3 | Gain | - |
C8orf58 | - | - | - | - | 3 | Gain | - |
C8orf59 | - | - | - | - | 3 | Gain | - |
C8orf74 | - | - | - | - | 3 | Gain | - |
C8orf76 | - | - | - | - | 3 | Gain | - |
C8orf82 | - | - | - | - | 3 | Gain | - |
C8orf86 | - | - | - | - | 3 | Gain | - |
C8orf88 | - | - | - | - | 3 | Gain | - |
C8orf89 | - | - | - | - | 3 | Gain | - |
C9orf135 | p.R36H | Missense | SNP | 0.476 | 2 | - | - |
C9orf64 | p.E275* | Nonsense | SNP | 0.469 | 2 | - | - |
CA1 | - | - | - | - | 3 | Gain | - |
CA13 | - | - | - | - | 3 | Gain | - |
CA2 | - | - | - | - | 3 | Gain | - |
CA3 | - | - | - | - | 3 | Gain | - |
CA8 | - | - | - | - | 3 | Gain | - |
CABP2 | p.M107V | Missense | SNP | 0.583 | 2 | - | - |
CACNA1A | p.A2447T | Missense | SNP | 0.507 | 2 | - | - |
CACNA1C | p.R890H | Missense | SNP | 0.551 | 2 | - | - |
CACNA2D3 | p.T535M | Missense | SNP | 0.403 | 2 | - | - |
CALB1 | - | - | - | - | 3 | Gain | - |
CAMK2B | p.S367G | Missense | SNP | 0.596 | 2 | - | - |
CARD10 | - | - | - | - | 3 | Gain | - |
CARD17 | p.A2V | Missense | SNP | 0.497 | 2 | - | - |
CASC5 | p.H284Q | Missense | SNP | 0.419 | ND | ND | - |
CASP8 | p.R491* | Nonsense | SNP | 0.548 | 2 | - | - |
CATSPERG | p.A662P | Missense | SNP | 0.554 | 2 | - | - |
CAV3 | p.C140Y | Missense | SNP | 0.546 | 2 | - | - |
CCAR2 | - | - | - | - | 3 | Gain | - |
CCDC113 | p.A230T | Missense | SNP | 0.518 | 2 | - | - |
CCDC166 | - | - | - | - | 3 | Gain | - |
CCDC25 | - | - | - | - | 3 | Gain | - |
CCDC60 | p.D373G | Missense | SNP | 0.405 | 2 | - | - |
CCDC80 | p.V252F | Missense | SNP | 0.494 | 2 | - | - |
CCHCR1 | - | - | - | - | 3 | Gain | - |
CCKBR | p.P114S | Missense | SNP | 0.494 | 2 | - | - |
CCNE2 | - | - | - | - | 3 | Gain | - |
CCT6B | p.X46_splice | Splice_Site | SNP | 0.456 | 2 | - | - |
CD101 | p.R879G | Missense | SNP | 0.462 | 2 | - | - |
CD14 | p.H340Y | Missense | SNP | 0.461 | 2 | - | - |
CD177 | - | - | - | - | 1 | Loss | - |
CD1D | p.W10R | Missense | SNP | 0.458 | 2 | - | - |
CD274 | p.V147A | Missense | SNP | 0.590 | 2 | - | - |
CDC42EP1 | - | - | - | - | 3 | Gain | - |
CDCA2 | - | - | - | - | 3 | Gain | - |
CDCA7 | p.H430Y | Missense | SNP | 0.548 | 2 | - | - |
CDH10 | p.R128C | Missense | SNP | 0.521 | 2 | - | - |
CDH16 | p.Y131C | Missense | SNP | 0.478 | 2 | - | - |
CDH17 | - | - | - | - | 3 | Gain | - |
CDH22 | p.R142H | Missense | SNP | 0.538 | 2 | - | - |
CDH9 | - | - | - | - | 3 | Gain | - |
CDHR5 | p.H261Y | Missense | SNP | 0.423 | 2 | - | - |
CDSN | - | - | - | - | 3 | Gain | - |
CDX2 | p.T185M | Missense | SNP | 0.388 | 2 | - | - |
CEACAM19 | p.E41D | Missense | SNP | 0.290 | 2 | - | - |
CEBPD | - | - | - | - | 3 | Gain | - |
CEP295 | p.P2072S | Missense | SNP | 0.382 | 2 | - | - |
CES5A | p.T213I | Missense | SNP | 0.414 | 2 | - | - |
CFAP46 | p.A2186T | Missense | SNP | 0.464 | 2 | - | - |
CGNL1 | p.A1007V | Missense | SNP | 0.465 | 2 | - | - |
CHCHD7 | - | - | - | - | 3 | Gain | - |
CHD5 | p.E767K p.V228I | Missense Missense | SNP SNP | 0.443 0.432 | 2 | - | - |
CHD7 | - | - | - | - | 3 | Gain | - |
CHL1 | p.V12A | Missense | SNP | 0.388 | 2 | - | - |
CHMP4C | p.S13Y | Missense | SNP | 0.345 | 3 | Gain | - |
CHMP7 | - | - | - | - | 3 | Gain | - |
CHRAC1 | - | - | - | - | 3 | Gain | - |
CHRNA2 | - | - | - | - | 3 | Gain | - |
CHRNA6 | - | - | - | - | 3 | Gain | - |
CHRNB3 | - | - | - | - | 3 | Gain | - |
CIITA | p.T233I | Missense | SNP | 0.467 | 2 | - | - |
CKAP5 | p.K1607N | Missense | SNP | 0.350 | 2 | - | - |
CLASP1 | p.A805V p.R662C | Missense Missense | SNP SNP | 0.502 0.481 | 2 | - | - |
CLDN23 | - | - | - | - | 3 | Gain | - |
CLDN7 | p.Y35H | Missense | SNP | 0.500 | 2 | - | - |
CLEC3B | p.R101H | Missense | SNP | 0.516 | 2 | - | - |
CLN8 | - | - | - | - | 3 | Gain | - |
CLU | - | - | - | - | 3 | Gain | - |
CLVS1 | - | - | - | - | 3 | Gain | - |
CNBD1 | - | - | - | - | 3 | Gain | - |
CNGB1 | p.H261Y | Missense | SNP | 0.442 | 2 | - | - |
CNGB3 | - | - | - | - | 3 | Gain | - |
CNKSR3 | p.N188K | Missense | SNP | 0.525 | 2 | - | - |
CNOT7 | - | - | - | - | 3 | Gain | - |
CNPY4 | p.A121T | Missense | SNP | 0.412 | 2 | - | - |
CNTLN | p.C228Y | Missense | SNP | 0.444 | 2 | - | - |
CNTN3 | p.S164L | Missense | SNP | 0.460 | 2 | - | - |
CNTRL | p.A1883T | Missense | SNP | 0.427 | 2 | - | - |
COG1 | p.Q600R | Missense | SNP | 0.584 | 2 | - | - |
COG3 | p.E778D | Missense | SNP | 0.471 | 2 | - | - |
COL11A1 | p.F1710V | Missense | SNP | 0.581 | 2 | - | - |
COL14A1 | - | - | - | - | 3 | Gain | - |
COL1A2 | p.P686T | Missense | SNP | 0.564 | 2 | - | - |
COL22A1 | - | - | - | - | 3 | Gain | - |
COL4A2 | p.G657* p.R802S | Nonsense Missense | SNP SNP | 0.407 0.706 | 2 | - | - |
COL4A6 | p.R1699H | Missense | SNP | 0.567 | ND | ND | - |
COL5A3 | p.E112* | Nonsense | SNP | 0.500 | 2 | - | - |
COLEC10 | - | - | - | - | 3 | Gain | - |
COMMD5 | - | - | - | - | 3 | Gain | - |
COMP | p.R738H p.R337H | Missense Missense | SNP SNP | 0.511 0.650 | 2 | - | - |
COPB2 | p.N151D | Missense | SNP | 0.471 | 2 | - | - |
COPS5 | - | - | - | - | 3 | Gain | - |
CORIN | p.C405Y | Missense | SNP | 0.531 | 2 | - | - |
COX6C | - | - | - | - | 3 | Gain | - |
CPA6 | - | - | - | - | 3 | Gain | - |
CPNE2 | p.G473C | Missense | SNP | 0.547 | 2 | - | - |
CPNE3 | - | - | - | - | 3 | Gain | - |
CPQ | - | - | - | - | 3 | Gain | - |
CPS1 | p.G302R | Missense | SNP | 0.418 | 2 | - | - |
CPSF1 | - | - | - | - | 3 | Gain | - |
CPXM2 | p.D220G | Missense | SNP | 0.271 | 2 | - | - |
CRCT1 | - | - | - | - | 3 | Gain | - |
CRH | - | - | - | - | 3 | Gain | - |
CRISPLD1 | - | - | - | - | 3 | Gain | - |
CRLF1 | p.T205M | Missense | SNP | 0.469 | 2 | - | - |
CRMP1 | p.V567I | Missense | SNP | 0.180 | 2 | - | - |
CRNN | - | - | - | - | 3 | Gain | - |
CROCC2 | p.V1056I | Missense | SNP | 0.439 | 2 | - | - |
CRYBG3 | p.T964A | Missense | SNP | 0.477 | 2 | - | - |
CSDE1 | p.T659A | Missense | SNP | 0.497 | 2 | - | - |
CSGALNACT1 | - | - | - | - | 3 | Gain | - |
CSMD1 | p.Q2584H p.H1304R p.L397H | Missense Missense Missense | SNP SNP SNP | 0.707 0.405 0.594 | 3 | Gain | - |
CSMD3 | - | - | - | - | 3 | Gain | - |
CSPP1 | p.M1047V | Missense | SNP | 0.298 | 3 | Gain | - |
CTDNEP1 | p.Q5* | Nonsense | SNP | 0.593 | 2 | - | - |
CTDP1 | - | - | - | - | 1 | Loss | - |
CTHRC1 | - | - | - | - | 3 | Gain | - |
CTNNA2 | p.R97C | Missense | SNP | 0.447 | 2 | - | - |
CTSB | - | - | - | - | 3 | Gain | - |
CTTN | p.G495W | Missense | SNP | 0.440 | 2 | - | - |
CTU1 | p.R77C | Missense | SNP | 0.301 | 2 | - | - |
CUL4A | p.V15W | Missense | DNP | 0.532 | 2 | - | - |
CUL7 | p.G251V | Missense | SNP | 0.431 | 2 | - | - |
CX3CR1 | p.G341E | Missense | SNP | 0.526 | 2 | - | - |
CXCR4 | p.L242I | Missense | SNP | 0.475 | 2 | - | - |
CYC1 | - | - | - | - | 3 | Gain | - |
CYHR1 | - | - | - | - | 3 | Gain | - |
CYP11B1 | - | - | - | - | 3 | Gain | - |
CYP11B2 | - | - | - | - | 3 | Gain | - |
CYP26B1 | p.R344C | Missense | SNP | 0.474 | 2 | - | - |
CYP2E1 | - | - | - | - | 3 | Gain | - |
CYP7A1 | - | - | - | - | 3 | Gain | - |
CYP7B1 | - | - | - | - | 3 | Gain | - |
DAZL | p.D9N | Missense | SNP | 0.466 | 2 | - | - |
DBX2 | p.A63T | Missense | SNP | 0.500 | 2 | - | - |
DCAF11 | p.X95_splice | Splice_Site | SNP | 0.529 | 2 | - | - |
DCAF12L2 | p.A459T | Missense | SNP | 0.500 | ND | ND | - |
DCAF13 | - | - | - | - | 3 | Gain | - |
DCAF4L2 | - | - | - | - | 3 | Gain | - |
DCLK3 | p.W95C | Missense | SNP | 0.419 | 2 | - | - |
DCSTAMP | - | - | - | - | 3 | Gain | - |
DCTN6 | - | - | - | - | 3 | Gain | - |
DDHD2 | - | - | - | - | 3 | Gain | - |
DDX47 | p.V403I | Missense | SNP | 0.462 | 2 | - | - |
DDX54 | p.K593R | Missense | SNP | 0.485 | 2 | - | - |
DECR1 | - | - | - | - | 3 | Gain | - |
DEFA4 | p.I84V | Missense | SNP | 0.768 | 3 | Gain | - |
DEFA5 | - | - | - | - | 3 | Gain | - |
DEFA6 | - | - | - | - | 3 | Gain | - |
DEFB1 | - | - | - | - | 3 | Gain | - |
DEFB103A | - | - | - | - | 1 | Loss | - |
DEFB103B | - | - | - | - | 1 | Loss | - |
DEFB104A | - | - | - | - | 1 | Loss | - |
DEFB104B | - | - | - | - | 1 | Loss | - |
DEFB105A | - | - | - | - | 1 | Loss | - |
DEFB105B | - | - | - | - | 1 | Loss | - |
DEFB106A | - | - | - | - | 1 | Loss | - |
DEFB106B | - | - | - | - | 1 | Loss | - |
DEFB107A | - | - | - | - | 1 | Loss | - |
DEFB107B | - | - | - | - | 1 | Loss | - |
DEFB134 | - | - | - | - | 3 | Gain | - |
DEFB135 | - | - | - | - | 3 | Gain | - |
DEFB136 | - | - | - | - | 3 | Gain | - |
DEFB4A | - | - | - | - | 1 | Loss | - |
DEFB4B | - | - | - | - | 1 | Loss | - |
DENND3 | - | - | - | - | 3 | Gain | - |
DENND4B | p.R878Q | Missense | SNP | 0.488 | 2 | - | - |
DEPTOR | - | - | - | - | 3 | Gain | - |
DERL1 | - | - | - | - | 3 | Gain | - |
DGAT1 | - | - | - | - | 3 | Gain | - |
DGKK | p.X1091_splice | Splice_Site | SNP | 0.493 | ND | ND | - |
DHX16 | p.Y885H | Missense | SNP | 0.422 | 2 | - | - |
DISP1 | p.T1330M | Missense | SNP | 0.489 | 2 | - | - |
DISP3 | p.V831M p.R1002W | Missense Missense | SNP SNP | 0.491 0.424 | 2 | - | - |
DKK4 | - | - | - | - | 3 | Gain | - |
DLC1 | - | - | - | - | 3 | Gain | - |
DLEU7 | p.R52H | Missense | SNP | 0.436 | 2 | - | - |
DLGAP2 | - | - | - | - | 3 | Gain | - |
DMTN | - | - | - | - | 3 | Gain | - |
DMXL1 | p.T594M p.E2449K | Missense Missense | SNP SNP | 0.374 0.458 | 2 | - | - |
DNAH11 | p.A1809V | Missense | SNP | 0.498 | 2 | - | - |
DNAH14 | p.V110M p.G1553* | Missense Nonsense | SNP SNP | 0.532 0.612 | 2 | - | - |
DNAH2 | p.X1687_splice | Splice_Site | SNP | 0.446 | 2 | - | - |
DNAH5 | p.Q639R | Missense | SNP | 0.187 | 2 | - | - |
DNAJC18 | p.N282T | Missense | SNP | 0.494 | 2 | - | - |
DNAJC5B | - | - | - | - | 3 | Gain | - |
DNM1 | p.S443I | Missense | SNP | 0.406 | 2 | - | - |
DNMT3B | p.R683H | Missense | SNP | 0.494 | 2 | - | - |
DNTTIP2 | p.L289P | Missense | SNP | 0.458 | 2 | - | - |
DOCK5 | - | - | - | - | 3 | Gain | - |
DOCK6 | p.P1827L p.D967N | Missense Missense | SNP SNP | 0.520 0.484 | 2 | - | - |
DOCK9 | p.L1724H | Missense | SNP | 0.481 | 2 | - | - |
DOK2 | - | - | - | - | 3 | Gain | - |
DPP7 | p.X208_splice | Splice_Site | SNP | 0.458 | ND | ND | - |
DPPA2 | . | Splice_Site | SNP | 0.600 | 2 | - | - |
DPY19L4 | - | - | - | - | 3 | Gain | - |
DPYS | - | - | - | - | 3 | Gain | - |
DPYSL2 | - | - | - | - | 3 | Gain | - |
DSCC1 | - | - | - | - | 3 | Gain | - |
DSEL | p.Q763R | Missense | SNP | 0.479 | 2 | - | - |
DST | p.N2522I p.N1215K p.X782_splice | Missense Missense Splice_Site | SNP SNP SNP | 0.483 0.600 0.419 | 2 | - | - |
DTNA | p.N69D | Missense | SNP | 0.521 | 2 | - | - |
DUOX1 | p.L197V | Missense | SNP | 0.435 | 2 | - | - |
DUOXA2 | p.V22I | Missense | SNP | 0.556 | 2 | - | - |
DUSP26 | - | - | - | - | 3 | Gain | - |
DUSP27 | p.T1004I | Missense | SNP | 0.536 | 2 | - | - |
DUSP4 | - | - | - | - | 3 | Gain | - |
DUSP6 | p.E125D | Missense | SNP | 0.498 | 2 | - | - |
DUSP8 | p.R570Q | Missense | SNP | 0.467 | 2 | - | - |
DYNC1H1 | p.R2358H p.M2953T | Missense Missense | SNP SNP | 0.421 0.386 | 2 | - | - |
E2F5 | - | - | - | - | 3 | Gain | - |
E4F1 | p.A651V | Missense | SNP | 0.534 | 2 | - | - |
EBAG9 | - | - | - | - | 3 | Gain | - |
EBF2 | - | - | - | - | 3 | Gain | - |
EEF1A1 | p.G33D | Missense | SNP | 0.205 | 2 | - | - |
EEF1D | - | - | - | - | 3 | Gain | - |
EFCAB1 | - | - | - | - | 3 | Gain | - |
EFR3A | - | - | - | - | 3 | Gain | - |
EGFR | p.R451C | Missense | SNP | 0.510 | 2 | - | - |
EGR3 | - | - | - | - | 3 | Gain | - |
EHMT2 | p.D1179N | Missense | SNP | 0.449 | 2 | - | - |
EIF2AK2 | p.V423A | Missense | SNP | 0.478 | 2 | - | - |
EIF3D | p.Y69C | Missense | SNP | 0.557 | 2 | - | - |
EIF3E | - | - | - | - | 3 | Gain | - |
EIF3H | - | - | - | - | 3 | Gain | - |
EIF4EBP1 | - | - | - | - | 3 | Gain | - |
EIF5A2 | p.R109Q | Missense | DNP | 0.375 | 2 | - | - |
ELAC2 | p.I284V | Missense | SNP | 0.531 | 2 | - | - |
ELK4 | p.P401A | Missense | SNP | 0.431 | 2 | - | - |
ELOC | - | - | - | - | 3 | Gain | - |
ELP3 | - | - | - | - | 3 | Gain | - |
EMC2 | - | - | - | - | 3 | Gain | - |
EMP2 | p.L163R | Missense | SNP | 0.318 | 2 | - | - |
ENPP2 | - | - | - | - | 3 | Gain | - |
ENTPD4 | - | - | - | - | 3 | Gain | - |
ENY2 | - | - | - | - | 3 | Gain | - |
EPAS1 | p.H775R | Missense | SNP | 0.445 | 2 | - | - |
EPHA6 | p.F303S | Missense | SNP | 0.481 | 2 | - | - |
EPHX2 | - | - | - | - | 3 | Gain | - |
EPPK1 | - | - | - | - | 3 | Gain | - |
EPS8L1 | p.C124G | Missense | SNP | 0.551 | 2 | - | - |
ERBB2 | p.P523S | Missense | SNP | 0.460 | 2 | - | - |
ERC2 | p.H927R | Missense | SNP | 0.410 | 2 | - | - |
ERG | p.A192T | Missense | SNP | 0.546 | 2 | - | - |
ERI1 | - | - | - | - | 3 | Gain | - |
ERICH1 | - | - | - | - | 3 | Gain | - |
ERICH5 | - | - | - | - | 3 | Gain | - |
ERLIN2 | - | - | - | - | 3 | Gain | - |
ESCO2 | - | - | - | - | 3 | Gain | - |
ESRP1 | - | - | - | - | 3 | Gain | - |
EXD3 | p.P596T | Missense | SNP | 0.568 | ND | ND | - |
EXOC3L1 | p.I468V p.F41L | Missense Missense | SNP SNP | 0.396 0.493 | 2 | - | - |
EXOC3L4 | p.E281K | Missense | SNP | 0.661 | 2 | - | - |
EXOC4 | p.R302H | Missense | SNP | 0.558 | 2 | - | - |
EXOSC4 | - | - | - | - | 3 | Gain | - |
EXT1 | - | - | - | - | 3 | Gain | - |
EXTL3 | - | - | - | - | 3 | Gain | - |
EYA1 | - | - | - | - | 3 | Gain | - |
EYS | p.S1490T | Missense | SNP | 0.528 | 2 | - | - |
FABP12 | - | - | - | - | 3 | Gain | - |
FABP4 | - | - | - | - | 3 | Gain | - |
FABP5 | - | - | - | - | 3 | Gain | - |
FABP9 | - | - | - | - | 3 | Gain | - |
FAF2 | p.Q382H | Missense | SNP | 0.470 | 2 | - | - |
FAM110B | - | - | - | - | 3 | Gain | - |
FAM124A | p.R278* | Nonsense | SNP | 0.464 | 2 | - | - |
FAM135B | - | - | - | - | 3 | Gain | - |
FAM160B2 | - | - | - | - | 3 | Gain | - |
FAM167A | - | - | - | - | 3 | Gain | - |
FAM186A | p.E55D | Missense | SNP | 0.464 | 2 | - | - |
FAM196B | p.G242C | Missense | SNP | 0.439 | ND | ND | - |
FAM198A | p.R37H p.A423V p.C440Y | Missense Missense Missense | SNP SNP SNP | 0.494 0.667 0.483 | 2 | - | - |
FAM210B | p.Y96C | Missense | SNP | 0.311 | 2 | - | - |
FAM43A | p.R410H | Missense | SNP | 0.569 | 2 | - | - |
FAM49B | - | - | - | - | 3 | Gain | - |
FAM53C | p.D126G | Missense | SNP | 0.350 | 2 | - | - |
FAM83A | - | - | - | - | 3 | Gain | - |
FAM83H | - | - | - | - | 3 | Gain | - |
FAM84B | - | - | - | - | 3 | Gain | - |
FAM91A1 | - | - | - | - | 3 | Gain | - |
FAM92A | - | - | - | - | 3 | Gain | - |
FAT2 | p.A2663S | Missense | SNP | 0.452 | 2 | - | - |
FAT4 | p.D2007Y p.S3990N | Missense Missense | SNP SNP | 0.496 0.513 | 2 | - | - |
FBF1 | p.V983A | Missense | SNP | 0.429 | 2 | - | - |
FBN1 | p.P1981L | Missense | SNP | 0.475 | 2 | - | - |
FBXL6 | p.A462T | Missense | SNP | 0.620 | 3 | Gain | - |
FBXO10 | p.G122C | Missense | SNP | 0.412 | 2 | - | - |
FBXO16 | - | - | - | - | 3 | Gain | - |
FBXO25 | - | - | - | - | 3 | Gain | - |
FBXO32 | - | - | - | - | 3 | Gain | - |
FBXO43 | - | - | - | - | 3 | Gain | - |
FBXW10 | p.H296Y | Missense | SNP | 0.396 | 2 | - | - |
FCER1A | p.R240M | Missense | SNP | 0.407 | 2 | - | - |
FCGBP | p.S3170F | Missense | SNP | 0.595 | 2 | - | - |
FCN3 | p.L10M | Missense | SNP | 0.464 | 2 | - | - |
FCRL4 | p.Q108* | Nonsense | SNP | 0.553 | 2 | - | - |
FDFT1 | - | - | - | - | 3 | Gain | - |
FER1L6 | - | - | - | - | 3 | Gain | - |
FES | p.A220T | Missense | SNP | 0.517 | 2 | - | - |
FGF17 | - | - | - | - | 3 | Gain | - |
FGF20 | - | - | - | - | 3 | Gain | - |
FGF6 | p.G95C | Missense | SNP | 0.453 | 2 | - | - |
FGFR1 | p.A23S | Missense | SNP | 0.198 | 3 | Gain | - |
FGL1 | - | - | - | - | 3 | Gain | - |
FLG2 | - | - | - | - | 3 | Gain | - |
FLRT2 | - | - | - | - | 3 | Gain | - |
FLT3LG | p.P57T | Missense | SNP | 0.500 | 2 | - | - |
FNTA | - | - | - | - | 3 | Gain | - |
FOLR2 | p.K120R | Missense | SNP | 0.546 | 2 | - | - |
FOXE3 | p.T93M | Missense | SNP | 0.530 | 2 | - | - |
FOXG1 | p.R281P | Missense | SNP | 0.513 | 2 | - | - |
FOXH1 | - | - | - | - | 3 | Gain | - |
FOXL1 | p.A65T | Missense | SNP | 0.522 | 2 | - | - |
FRG2B | - | - | - | - | 3 | Gain | - |
FSBP | - | - | - | - | 3 | Gain | - |
FSIP2 | p.A96T p.S1622T p.V4132A | Missense Missense Missense | SNP SNP SNP | 0.364 0.535 0.524 | 2 | - | - |
FTSJ3 | p.E338D | Missense | SNP | 0.544 | 2 | - | - |
FUT10 | - | - | - | - | 3 | Gain | - |
FUT4 | p.A82V | Missense | SNP | 0.333 | 2 | - | - |
FUZ | p.G377* | Nonsense | SNP | 0.479 | 2 | - | - |
FZD1 | p.C215Y | Missense | SNP | 0.519 | 2 | - | - |
FZD3 | p.V228I | Missense | SNP | 0.338 | 3 | Gain | - |
FZD6 | - | - | - | - | 3 | Gain | - |
GABRA4 | p.P180L | Missense | SNP | 0.350 | 2 | - | - |
GABRA5 | p.G233C | Missense | SNP | 0.509 | 2 | - | - |
GAREM2 | p.P282L | Missense | SNP | 0.504 | 2 | - | - |
GAS2 | p.S133L | Missense | SNP | 0.544 | 2 | - | - |
GATA1 | p.R140W | Missense | SNP | 0.494 | ND | ND | - |
GATA3 | p.A146T | Missense | SNP | 0.539 | 2 | - | - |
GATA4 | - | - | - | - | 3 | Gain | - |
GBA | p.P12A | Missense | SNP | 0.507 | 2 | - | - |
GDAP1 | - | - | - | - | 3 | Gain | - |
GDF6 | - | - | - | - | 3 | Gain | - |
GEM | - | - | - | - | 3 | Gain | - |
GFRA2 | - | - | - | - | 3 | Gain | - |
GGA1 | - | - | - | - | 3 | Gain | - |
GGH | - | - | - | - | 3 | Gain | - |
GGN | p.R404W | Missense | SNP | 0.571 | 2 | - | - |
GIMAP4 | p.G113W | Missense | SNP | 0.451 | 2 | - | - |
GINS4 | - | - | - | - | 3 | Gain | - |
GJD2 | - | - | - | - | 1 | Loss | - |
GJD4 | p.N63S | Missense | SNP | 0.285 | 2 | - | - |
GLI4 | - | - | - | - | 3 | Gain | - |
GLTSCR2 | p.L116I | Missense | SNP | 0.267 | ND | ND | - |
GML | - | - | - | - | 3 | Gain | - |
GNAL | p.E150K | Missense | SNP | 0.521 | 2 | - | - |
GNAS | p.G152* p.A263V | Nonsense Missense | SNP SNP | 0.515 0.488 | 2 | - | - |
GNB1L | p.C300Y | Missense | SNP | 0.557 | 2 | - | - |
GNPTAB | p.Q225H | Missense | SNP | 0.524 | 2 | - | - |
GNRH1 | - | - | - | - | 3 | Gain | - |
GOLGA7 | - | - | - | - | 3 | Gain | - |
GOLGA8A | - | - | - | - | 1 | Loss | - |
GOLGA8B | - | - | - | - | 1 | Loss | - |
GOT1L1 | - | - | - | - | 3 | Gain | - |
GPAA1 | - | - | - | - | 3 | Gain | - |
GPAT4 | - | - | - | - | 3 | Gain | - |
GPC3 | p.M14I | Missense | SNP | 0.508 | ND | ND | - |
GPIHBP1 | - | - | - | - | 3 | Gain | - |
GPR137 | p.L326M | Missense | SNP | 0.391 | 2 | - | - |
GPR20 | - | - | - | - | 3 | Gain | - |
GPR85 | p.C114R | Missense | SNP | 0.509 | ND | ND | - |
GPRIN1 | p.G894S | Missense | SNP | 0.533 | 2 | - | - |
GPT | - | - | - | - | 3 | Gain | - |
GPX5 | p.E114* | Nonsense | SNP | 0.606 | 2 | - | - |
GRAMD1C | p.L623* | Nonsense | SNP | 0.512 | 2 | - | - |
GRHL2 | - | - | - | - | 3 | Gain | - |
GRIN2A | p.A827S | Missense | SNP | 0.571 | 2 | - | - |
GRIN2C | p.A714T p.A186T | Missense Missense | SNP SNP | 0.444 0.498 | 2 | - | - |
GRINA | - | - | - | - | 3 | Gain | - |
GRIP1 | p.E835D | Missense | SNP | 0.444 | 2 | - | - |
GRIP2 | p.R595M | Missense | SNP | 0.326 | 2 | - | - |
GRM6 | p.A407V | Missense | SNP | 0.511 | 2 | - | - |
GSDMC | - | - | - | - | 3 | Gain | - |
GSDMD | - | - | - | - | 3 | Gain | - |
GSR | - | - | - | - | 3 | Gain | - |
GSTCD | p.L8I | Missense | SNP | 0.509 | 2 | - | - |
GTF2A2 | p.X102_splice | Splice_Site | SNP | 0.433 | 2 | - | - |
GTF2E2 | - | - | - | - | 3 | Gain | - |
H6PD | p.A102T | Missense | SNP | 0.427 | 2 | - | - |
HAPLN4 | p.V333M | Missense | SNP | 0.461 | 2 | - | - |
HAS2 | - | - | - | - | 3 | Gain | - |
HCFC1 | p.E1651K p.V437M | Missense Missense | SNP SNP | 0.673 0.453 | ND | ND | - |
HCN4 | p.A177T | Missense | SNP | 0.538 | 2 | - | - |
HECTD3 | p.E775G | Missense | SNP | 0.523 | 2 | - | - |
HECTD4 | p.R1975W | Missense | SNP | 0.542 | 2 | - | - |
HERC2 | p.R233* | Nonsense | SNP | 0.532 | 2 | - | - |
HEY1 | - | - | - | - | 3 | Gain | - |
HGH1 | - | - | - | - | 3 | Gain | - |
HGSNAT | p.L474M | Missense | SNP | 0.270 | 3 | Gain | - |
HHIPL1 | p.R127H | Missense | SNP | 0.467 | 2 | - | - |
HHLA1 | - | - | - | - | 3 | Gain | - |
HIVEP3 | p.E2270D | Missense | SNP | 0.440 | 2 | - | - |
HMBOX1 | - | - | - | - | 3 | Gain | - |
HNF4G | - | - | - | - | 3 | Gain | - |
HNRNPDL | p.S92F | Missense | SNP | 0.448 | 2 | - | - |
HNRNPM | p.D81V | Missense | SNP | 0.574 | 2 | - | - |
HOOK3 | - | - | - | - | 3 | Gain | - |
HOXC11 | p.V217L | Missense | SNP | 0.459 | 2 | - | - |
HOXD10 | p.C139R | Missense | SNP | 0.492 | 2 | - | - |
HOXD9 | p.A106T | Missense | SNP | 0.423 | 2 | - | - |
HPN | p.E409K | Missense | SNP | 0.518 | 2 | - | - |
HR | - | - | - | - | 3 | Gain | - |
HS6ST3 | p.N465S | Missense | SNP | 0.458 | 2 | - | - |
HSBP1L1 | - | - | - | - | 1 | Loss | - |
HSF1 | - | - | - | - | 3 | Gain | - |
HSPA12A | p.R639Q | Missense | SNP | 0.522 | 2 | - | - |
HSPA1L | p.Q443* | Nonsense | SNP | 0.375 | 2 | - | - |
HSPB1 | p.W45L | Missense | SNP | 0.435 | 2 | - | - |
HTR3B | p.A16T | Missense | SNP | 0.662 | 2 | - | - |
HTR7 | p.T240M | Missense | SNP | 0.565 | 2 | - | - |
HTRA4 | - | - | - | - | 3 | Gain | - |
HUWE1 | p.Q381R | Missense | SNP | 0.524 | ND | ND | - |
ICAM5 | p.V831M | Missense | SNP | 0.488 | 2 | - | - |
IDO1 | - | - | - | - | 3 | Gain | - |
IDO2 | - | - | - | - | 3 | Gain | - |
IDUA | p.R230* | Nonsense | SNP | 0.487 | 2 | - | - |
IFNA8 | p.R144S | Missense | SNP | 0.449 | 2 | - | - |
IFNW1 | p.G134R | Missense | SNP | 0.509 | 2 | - | - |
IGLON5 | p.G200R | Missense | SNP | 0.700 | 2 | - | - |
IGLV3-1 | p.A37V | Missense | SNP | 0.455 | ND | ND | - |
IGSF9 | p.R1154H | Missense | SNP | 0.550 | 2 | - | - |
IKBKB | - | - | - | - | 3 | Gain | - |
IKZF1 | p.E356D | Missense | SNP | 0.541 | 2 | - | - |
IL7 | - | - | - | - | 3 | Gain | - |
ILDR2 | p.D609N | Missense | SNP | 0.452 | 2 | - | - |
IMPA1 | - | - | - | - | 3 | Gain | - |
IMPAD1 | - | - | - | - | 3 | Gain | - |
IMPG1 | p.T76M | Missense | SNP | 0.462 | 2 | - | - |
ING3 | p.A63T p.S168Y | Missense Missense | SNP SNP | 0.548 0.437 | ND | ND | - |
INPP4B | p.K409E | Missense | SNP | 0.548 | 2 | - | - |
INPP5J | - | - | - | - | 3 | Gain | - |
INTS10 | p.L348I | Missense | SNP | 0.355 | 3 | Gain | - |
INTS8 | - | - | - | - | 3 | Gain | - |
INTS9 | - | - | - | - | 3 | Gain | - |
IQANK1 | - | - | - | - | 3 | Gain | - |
IQCC | p.G293V | Missense | SNP | 0.517 | 2 | - | - |
IQCD | p.G21W | Missense | SNP | 0.565 | 2 | - | - |
IQCH | p.L144I | Missense | SNP | 0.522 | 2 | - | - |
IRF4 | p.T267A | Missense | SNP | 0.475 | 2 | - | - |
IRF6 | p.P279H | Missense | SNP | 0.440 | 2 | - | - |
IRGQ | p.A299T | Missense | SNP | 0.577 | 2 | - | - |
IRX1 | p.N387D | Missense | SNP | 0.476 | 2 | - | - |
IRX2 | p.R308H | Missense | SNP | 0.540 | 2 | - | - |
ITGA11 | p.N694K p.E408K | Missense Missense | SNP SNP | 0.459 0.483 | 2 | - | - |
ITGA9 | p.L681F | Missense | SNP | 0.597 | 2 | - | - |
IVL | p.E81V p.Q439H | Missense Missense | SNP SNP | 0.462 0.496 | 2 | - | - |
IZUMO1R | p.R144H | Missense | SNP | 0.443 | 2 | - | - |
JAKMIP1 | p.A746T | Missense | SNP | 0.515 | 2 | - | - |
JAML | p.I295T | Missense | SNP | 0.303 | 2 | - | - |
JPH1 | - | - | - | - | 3 | Gain | - |
JRK | - | - | - | - | 3 | Gain | - |
KANSL2 | p.C359Y | Missense | SNP | 0.620 | 2 | - | - |
KAT6A | - | - | - | - | 3 | Gain | - |
KBTBD11 | - | - | - | - | 3 | Gain | - |
KBTBD11-OT1 | - | - | - | - | 3 | Gain | - |
KBTBD12 | p.R306W p.R565H | Missense Missense | SNP SNP | 0.541 0.463 | 2 | - | - |
KCNAB3 | p.R20C | Missense | SNP | 0.466 | 2 | - | - |
KCNB2 | - | - | - | - | 3 | Gain | - |
KCNC3 | p.N93S | Missense | SNP | 0.431 | 2 | - | - |
KCNG2 | - | - | - | - | 1 | Loss | - |
KCNH2 | p.A253T | Missense | SNP | 0.413 | 2 | - | - |
KCNH7 | p.I511V | Missense | SNP | 0.491 | 2 | - | - |
KCNJ16 | p.R211Q | Missense | SNP | 0.502 | 2 | - | - |
KCNK17 | p.P196S | Missense | SNP | 0.455 | 2 | - | - |
KCNK9 | - | - | - | - | 3 | Gain | - |
KCNN2 | p.F216I | Missense | SNP | 0.568 | 2 | - | - |
KCNQ2 | p.A92V | Missense | SNP | 0.464 | 2 | - | - |
KCNQ3 | - | - | - | - | 3 | Gain | - |
KCNS2 | - | - | - | - | 3 | Gain | - |
KCNU1 | - | - | - | - | 3 | Gain | - |
KCNV1 | - | - | - | - | 3 | Gain | - |
KCP | p.T1348A | Missense | SNP | 0.562 | ND | ND | - |
KCTD8 | p.G160D p.L113M | Missense Missense | SNP SNP | 0.462 0.566 | 2 | - | - |
KCTD9 | - | - | - | - | 3 | Gain | - |
KDM3A | p.Q321H | Missense | SNP | 0.375 | 2 | - | - |
KDM6B | p.T821S p.R1015H | Missense Missense | SNP SNP | 0.533 0.418 | 2 | - | - |
KHDC1L | p.P123T | Missense | SNP | 0.529 | 2 | - | - |
KHDC3L | p.A18V | Missense | SNP | 0.478 | 2 | - | - |
KHDRBS3 | - | - | - | - | 3 | Gain | - |
KIAA1109 | p.A4277V | Missense | SNP | 0.453 | 2 | - | - |
KIAA1549 | p.X1592_splice p.A765T | Splice_Site Missense | SNP SNP | 0.422 0.570 | 2 | - | - |
KIAA1549L | p.T1105N | Missense | SNP | 0.440 | 2 | - | - |
KIAA1614 | p.V29M | Missense | SNP | 0.486 | 2 | - | - |
KIAA2026 | p.L912P | Missense | SNP | 0.418 | 2 | - | - |
KIF13B | - | - | - | - | 3 | Gain | - |
KIF18A | p.T83M | Missense | SNP | 0.140 | 2 | - | - |
KIFC2 | p.W52C | Missense | SNP | 0.714 | 3 | Gain | - |
KIZ | p.S504R | Missense | SNP | 0.575 | 2 | - | - |
KLF10 | - | - | - | - | 3 | Gain | - |
KLHL18 | p.R525C | Missense | SNP | 0.458 | 2 | - | - |
KLHL32 | p.K297E | Missense | SNP | 0.496 | 2 | - | - |
KLHL38 | - | - | - | - | 3 | Gain | - |
KPRP | - | - | - | - | 3 | Gain | - |
KRI1 | p.Y87C | Missense | SNP | 0.676 | 2 | - | - |
KRT38 | p.V246A | Missense | SNP | 0.531 | 2 | - | - |
KRTCAP3 | p.R192C | Missense | SNP | 0.471 | 2 | - | - |
KSR1 | p.S720L | Missense | SNP | 0.612 | 2 | - | - |
LACTB2 | - | - | - | - | 3 | Gain | - |
LAMA4 | p.L897F | Missense | SNP | 0.500 | 2 | - | - |
LAMB3 | p.G385R | Missense | SNP | 0.455 | 2 | - | - |
LAMC3 | p.Y171C | Missense | SNP | 0.465 | 2 | - | - |
LAPTM4B | - | - | - | - | 3 | Gain | - |
LATS1 | p.P585S | Missense | SNP | 0.525 | 2 | - | - |
LBHD1 | p.P217L | Missense | SNP | 0.395 | 2 | - | - |
LCE2A | - | - | - | - | 3 | Gain | - |
LCE2B | - | - | - | - | 3 | Gain | - |
LCE2C | - | - | - | - | 3 | Gain | - |
LCE2D | p.P39L | Missense | SNP | 0.495 | 3 | Gain | - |
LCE3A | - | - | - | - | 3 | Gain | - |
LCE3B | - | - | - | - | 3 | Gain | - |
LCE3C | - | - | - | - | 3 | Gain | - |
LCE3D | - | - | - | - | 3 | Gain | - |
LCE3E | - | - | - | - | 3 | Gain | - |
LCE4A | - | - | - | - | 3 | Gain | - |
LCE5A | - | - | - | - | 3 | Gain | - |
LDLRAD3 | p.R90W | Missense | SNP | 0.588 | 2 | - | - |
LEPROTL1 | - | - | - | - | 3 | Gain | - |
LETM2 | - | - | - | - | 3 | Gain | - |
LGALS1 | - | - | - | - | 3 | Gain | - |
LGALS2 | - | - | - | - | 3 | Gain | - |
LGI3 | - | - | - | - | 3 | Gain | - |
LHCGR | p.I573N | Missense | SNP | 0.486 | 2 | - | - |
LHFP | p.R70C | Missense | SNP | 0.487 | ND | ND | - |
LIFR | p.D922Y | Missense | SNP | 0.518 | 2 | - | - |
LIG3 | p.K670R | Missense | SNP | 0.502 | 2 | - | - |
LIPG | p.L149F | Missense | SNP | 0.255 | 2 | - | - |
LMAN1L | p.R31C | Missense | SNP | 0.473 | 2 | - | - |
LONRF1 | - | - | - | - | 3 | Gain | - |
LONRF2 | p.A631V | Missense | SNP | 0.585 | 2 | - | - |
LOX | p.G78V | Missense | SNP | 0.470 | 2 | - | - |
LOXL2 | - | - | - | - | 3 | Gain | - |
LPAR5 | p.A266V | Missense | SNP | 0.615 | 2 | - | - |
LPL | - | - | - | - | 3 | Gain | - |
LRP12 | - | - | - | - | 3 | Gain | - |
LRP1B | p.C2701Y | Missense | SNP | 0.545 | 2 | - | - |
LRRC14 | - | - | - | - | 3 | Gain | - |
LRRC24 | - | - | - | - | 3 | Gain | - |
LRRC6 | - | - | - | - | 3 | Gain | - |
LRRC69 | p.R305Q | Missense | SNP | 0.653 | 3 | Gain | - |
LRRC8E | p.R532W | Missense | SNP | 0.526 | 2 | - | - |
LRRCC1 | - | - | - | - | 3 | Gain | - |
LRRFIP2 | p.R461H | Missense | SNP | 0.466 | 2 | - | - |
LSM1 | - | - | - | - | 3 | Gain | - |
LSM12 | p.A91T | Missense | SNP | 0.538 | 2 | - | - |
LY6D | p.R22C | Missense | SNP | 0.368 | 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 | - |
LZTS1 | - | - | - | - | 3 | Gain | - |
MAF1 | - | - | - | - | 3 | Gain | - |
MAFA | - | - | - | - | 3 | Gain | - |
MAGEB2 | p.E167V | Missense | SNP | 0.466 | ND | ND | - |
MAGEC1 | p.Q554R | Missense | SNP | 0.465 | ND | ND | - |
MAGI2 | p.D105N | Missense | SNP | 0.466 | 2 | - | - |
MAK16 | - | - | - | - | 3 | Gain | - |
MAL2 | - | - | - | - | 3 | Gain | - |
MAML2 | p.Q746* | Nonsense | SNP | 0.583 | 2 | - | - |
MAN1A1 | p.X273_splice | Splice_Site | SNP | 0.429 | 2 | - | - |
MAN1B1 | p.S447T | Missense | SNP | 0.467 | ND | ND | - |
MAN2B1 | p.A878T | Missense | SNP | 0.462 | 2 | - | - |
MAP1B | p.G1424D | Missense | SNP | 0.315 | 2 | - | - |
MAP2K7 | p.D277N | Missense | SNP | 0.505 | 2 | - | - |
MAP3K13 | p.S83R | Missense | SNP | 0.415 | 2 | - | - |
MAP3K4 | p.R1146W | Missense | SNP | 0.512 | 2 | - | - |
MAPK11 | p.V327I | Missense | SNP | 0.509 | 2 | - | - |
MAPK15 | - | - | - | - | 3 | Gain | - |
MARS2 | p.L63M | Missense | SNP | 0.497 | 2 | - | - |
MASP1 | p.D132G | Missense | SNP | 0.465 | 2 | - | - |
MAST4 | p.D2262N p.K2563N | Missense Missense | SNP SNP | 0.478 0.413 | 2 | - | - |
MATN2 | - | - | - | - | 3 | Gain | - |
MBOAT4 | - | - | - | - | 3 | Gain | - |
MC4R | p.P230S | Missense | SNP | 0.413 | 2 | - | - |
MCF2 | p.Q276* | Nonsense | SNP | 0.435 | ND | ND | - |
MCIDAS | p.R327H | Missense | SNP | 0.402 | 2 | - | - |
MCM4 | - | - | - | - | 3 | Gain | - |
MCMDC2 | - | - | - | - | 3 | Gain | - |
MCPH1 | - | - | - | - | 3 | Gain | - |
ME2 | p.A475T | Missense | SNP | 0.400 | 2 | - | - |
MED26 | p.P8S | Missense | SNP | 0.556 | 2 | - | - |
MED30 | - | - | - | - | 3 | Gain | - |
MEGF9 | p.G222V | Missense | SNP | 0.404 | 2 | - | - |
MEIS2 | p.P32L | Missense | SNP | 0.485 | 2 | - | - |
MELTF | p.V573I | Missense | SNP | 0.541 | 2 | - | - |
METTL13 | p.D73V p.A253D | Missense Missense | SNP SNP | 0.497 0.490 | 2 | - | - |
METTL2A | p.P28T | Missense | SNP | 0.461 | 2 | - | - |
MFHAS1 | - | - | - | - | 3 | Gain | - |
MFNG | - | - | - | - | 3 | Gain | - |
MFSD3 | - | - | - | - | 3 | Gain | - |
MGME1 | p.V20A | Missense | SNP | 0.516 | 2 | - | - |
MICALL2 | p.G33D | Missense | SNP | 0.459 | 2 | - | - |
MICU2 | p.L433I | Missense | SNP | 0.500 | 2 | - | - |
MICU3 | - | - | - | - | 3 | Gain | - |
MID1 | p.E664* | Nonsense | SNP | 0.404 | ND | ND | - |
MINK1 | p.R1017* | Nonsense | SNP | 0.435 | 2 | - | - |
MLLT4 | p.Q714* | Nonsense | SNP | 0.478 | ND | ND | - |
MMP16 | - | - | - | - | 3 | Gain | - |
MON2 | p.I1199M | Missense | SNP | 0.495 | 2 | - | - |
MORC2 | p.R981H | Missense | SNP | 0.593 | 2 | - | - |
MORC3 | p.D591Y | Missense | SNP | 0.484 | 2 | - | - |
MOS | - | - | - | - | 3 | Gain | - |
MOV10L1 | p.K711N | Missense | SNP | 0.475 | 2 | - | - |
MPDZ | p.D2006N p.G396* | Missense Nonsense | SNP SNP | 0.462 0.410 | 2 | - | - |
MPPED1 | p.R202W | Missense | SNP | 0.528 | 2 | - | - |
MROH1 | - | - | - | - | 3 | Gain | - |
MROH2B | p.A1207D | Missense | SNP | 0.475 | 2 | - | - |
MROH5 | - | - | - | - | 3 | Gain | - |
MROH6 | - | - | - | - | 3 | Gain | - |
MRPL13 | - | - | - | - | 3 | Gain | - |
MRPL15 | - | - | - | - | 3 | Gain | - |
MRPS28 | - | - | - | - | 3 | Gain | - |
MS4A2 | p.M113I | Missense | SNP | 0.341 | 2 | - | - |
MSC | - | - | - | - | 3 | Gain | - |
MSL3 | p.R458* | Nonsense | SNP | 0.387 | ND | ND | - |
MSN | p.R379W | Missense | SNP | 0.607 | ND | ND | - |
MSR1 | - | - | - | - | 3 | Gain | - |
MSRA | - | - | - | - | 3 | Gain | - |
MTBP | - | - | - | - | 3 | Gain | - |
MTCL1 | p.K446N p.Y722C | Missense Missense | SNP SNP | 0.524 0.451 | 2 | - | - |
MTDH | - | - | - | - | 3 | Gain | - |
MTERF3 | - | - | - | - | 3 | Gain | - |
MTFR1 | p.P128H | Missense | SNP | 0.150 | 3 | Gain | - |
MTMR10 | p.S561R | Missense | SNP | 0.559 | 2 | - | - |
MTMR4 | p.V814I | Missense | SNP | 0.469 | 2 | - | - |
MTMR7 | - | - | - | - | 3 | Gain | - |
MTMR9 | - | - | - | - | 3 | Gain | - |
MTSS1 | - | - | - | - | 3 | Gain | - |
MTUS1 | - | - | - | - | 3 | Gain | - |
MUC22 | - | - | - | - | 3 | Gain | - |
MYBL1 | - | - | - | - | 3 | Gain | - |
MYBPC2 | p.M241T | Missense | SNP | 0.432 | 2 | - | - |
MYC | - | - | - | - | 3 | Gain | - |
MYH1 | p.E1709D | Missense | SNP | 0.432 | 2 | - | - |
MYH6 | p.R1047C | Missense | SNP | 0.497 | 2 | - | - |
MYH7B | p.Q1079H | Missense | SNP | 0.365 | 2 | - | - |
MYO15A | p.G759R | Missense | SNP | 0.553 | 2 | - | - |
MYO6 | p.Y249C | Missense | SNP | 0.549 | 2 | - | - |
MYO9A | p.V1603M | Missense | SNP | 0.518 | 2 | - | - |
MYOM2 | - | - | - | - | 3 | Gain | - |
NAGS | p.Q126H | Missense | SNP | 0.500 | 2 | - | - |
NAPRT | - | - | - | - | 3 | Gain | - |
NAT1 | - | - | - | - | 3 | Gain | - |
NAT2 | - | - | - | - | 3 | Gain | - |
NAV3 | p.A74V p.P1000L | Missense Missense | SNP SNP | 0.388 0.450 | 2 | - | - |
NBN | - | - | - | - | 3 | Gain | - |
NBPF20 | - | - | - | - | 5 | Amp | - |
NCALD | - | - | - | - | 3 | Gain | - |
NCAN | p.A665T p.P747S | Missense Missense | SNP SNP | 0.558 0.522 | 2 | - | - |
NCKAP5 | p.F1888S p.H1606D | Missense Missense | SNP SNP | 0.500 0.481 | 2 | - | - |
NCOA2 | - | - | - | - | 3 | Gain | - |
NDRG1 | - | - | - | - | 3 | Gain | - |
NDUFAF6 | p.L138I | Missense | SNP | 0.686 | 3 | Gain | - |
NDUFB9 | - | - | - | - | 3 | Gain | - |
NEB | p.A3455V | Missense | SNP | 0.487 | 2 | - | - |
NECAB1 | - | - | - | - | 3 | Gain | - |
NEFL | - | - | - | - | 3 | Gain | - |
NEFM | - | - | - | - | 3 | Gain | - |
NEIL2 | - | - | - | - | 3 | Gain | - |
NEK1 | p.A56T | Missense | SNP | 0.547 | 2 | - | - |
NELL2 | p.S432Y | Missense | SNP | 0.500 | 2 | - | - |
NEU3 | p.R158H | Missense | SNP | 0.589 | 2 | - | - |
NFATC1 | - | - | - | - | 1 | Loss | - |
NIPAL2 | - | - | - | - | 3 | Gain | - |
NKAIN3 | - | - | - | - | 3 | Gain | - |
NKX2-4 | p.A123V | Missense | SNP | 0.592 | 2 | - | - |
NKX2-6 | - | - | - | - | 3 | Gain | - |
NKX3-1 | - | - | - | - | 3 | Gain | - |
NKX6-3 | - | - | - | - | 3 | Gain | - |
NOC4L | p.D163G | Missense | SNP | 0.409 | 2 | - | - |
NOL12 | - | - | - | - | 3 | Gain | - |
NOL6 | p.G28C | Missense | SNP | 0.528 | 2 | - | - |
NOLC1 | p.P116L | Missense | SNP | 0.412 | 2 | - | - |
NOP9 | p.L423I | Missense | SNP | 0.619 | 2 | - | - |
NOS1 | p.X878_splice p.W414* | Splice_Site Nonsense | SNP SNP | 0.580 0.429 | 2 | - | - |
NOV | - | - | - | - | 3 | Gain | - |
NPAS3 | p.E376D | Missense | SNP | 0.457 | 2 | - | - |
NPBWR1 | - | - | - | - | 3 | Gain | - |
NPM2 | - | - | - | - | 3 | Gain | - |
NPRL3 | p.F547S | Missense | SNP | 0.447 | 2 | - | - |
NPTX1 | p.D40G | Missense | SNP | 0.600 | 2 | - | - |
NR1I2 | p.A25V | Missense | SNP | 0.519 | 2 | - | - |
NRBP2 | - | - | - | - | 3 | Gain | - |
NRG1 | - | - | - | - | 3 | Gain | - |
NRXN1 | p.E221K | Missense | SNP | 0.455 | 2 | - | - |
NSD3 | - | - | - | - | 3 | Gain | - |
NSMAF | - | - | - | - | 3 | Gain | - |
NSMCE2 | - | - | - | - | 3 | Gain | - |
NT5DC3 | p.R495C | Missense | SNP | 0.558 | 2 | - | - |
NTHL1 | p.R65C | Missense | SNP | 0.456 | 2 | - | - |
NTN5 | p.T301I | Missense | SNP | 0.540 | 2 | - | - |
NUDCD1 | - | - | - | - | 3 | Gain | - |
NUDT18 | - | - | - | - | 3 | Gain | - |
NUGGC | - | - | - | - | 3 | Gain | - |
NUP205 | p.R172H | Missense | SNP | 0.559 | 2 | - | - |
NUP98 | p.X83_splice | Splice_Site | SNP | 0.508 | 2 | - | - |
NXNL2 | p.L48F | Missense | SNP | 0.579 | 2 | - | - |
NYAP1 | p.A367V p.G665C | Missense Missense | SNP SNP | 0.517 0.482 | 2 | - | - |
OBSCN | p.Y1696H | Missense | SNP | 0.446 | 2 | - | - |
OC90 | - | - | - | - | 3 | Gain | - |
ODF1 | - | - | - | - | 3 | Gain | - |
ODF2 | p.R158W | Missense | SNP | 0.510 | 2 | - | - |
OGFR | p.T504R | Missense | SNP | 0.463 | 2 | - | - |
OPCML | p.A229V | Missense | SNP | 0.474 | 2 | - | - |
OPHN1 | p.N173I | Missense | SNP | 0.515 | ND | ND | - |
OPLAH | - | - | - | - | 3 | Gain | - |
OPRK1 | - | - | - | - | 3 | Gain | - |
OR14K1 | p.A115T | Missense | SNP | 0.520 | 2 | - | - |
OR1S2 | p.I111S | Missense | SNP | 0.543 | 2 | - | - |
OR2J2 | p.M60L | Missense | SNP | 0.490 | 2 | - | - |
OR4K1 | - | - | - | - | 4 | Gain | - |
OR4K2 | - | - | - | - | 4 | Gain | - |
OR4K5 | - | - | - | - | 4 | Gain | - |
OR4M1 | - | - | - | - | 4 | Gain | - |
OR4N2 | - | - | - | - | 4 | Gain | - |
OR52E2 | p.P270S p.L111V | Missense Missense | SNP SNP | 0.605 0.458 | 2 | - | - |
OR5B17 | p.T238I | Missense | SNP | 0.380 | 2 | - | - |
OR5H2 | p.M141I | Missense | SNP | 0.492 | 2 | - | - |
OR5T3 | p.T6R | Missense | SNP | 0.442 | 2 | - | - |
OR6Q1 | p.H26R | Missense | SNP | 0.490 | 2 | - | - |
OR8G1 | p.A156V | Missense | SNP | 0.389 | 2 | - | - |
OSBP2 | p.P861S | Missense | SNP | 0.528 | 2 | - | - |
OSGIN2 | - | - | - | - | 3 | Gain | - |
OSR2 | - | - | - | - | 3 | Gain | - |
OTUD6B | - | - | - | - | 3 | Gain | - |
OXR1 | - | - | - | - | 3 | Gain | - |
OXT | p.G109S | Missense | SNP | 0.517 | 2 | - | - |
P2RY6 | p.H313R | Missense | SNP | 0.409 | 2 | - | - |
PABPC1 | - | - | - | - | 3 | Gain | - |
PAG1 | - | - | - | - | 3 | Gain | - |
PARP10 | - | - | - | - | 3 | Gain | - |
PBK | - | - | - | - | 3 | Gain | - |
PCDH15 | p.A1607T | Missense | SNP | 0.513 | 2 | - | - |
PCDH8 | p.G914S | Missense | SNP | 0.557 | 2 | - | - |
PCDH9 | p.P1085H p.T573S p.A54T | Missense Missense Missense | SNP SNP SNP | 0.517 0.482 0.400 | 2 | - | - |
PCDHA10 | - | - | - | - | 1 | Loss | - |
PCDHA11 | p.V697M | Missense | SNP | 0.598 | 1 | Loss | - |
PCDHA12 | - | - | - | - | 1 | Loss | - |
PCDHA13 | - | - | - | - | 1 | Loss | - |
PCDHA3 | p.A503V | Missense | SNP | 0.432 | 2 | - | - |
PCDHA9 | p.R623C | Missense | SNP | 1.000 | 1 | Loss | - |
PCDHB16 | p.V709M | Missense | SNP | 0.296 | 2 | - | - |
PCDHB2 | p.P498S | Missense | SNP | 0.385 | 2 | - | - |
PCDHB3 | p.A239V | Missense | SNP | 0.551 | 2 | - | - |
PCDHB5 | p.G536S | Missense | SNP | 0.273 | 2 | - | - |
PCDHGA12 | p.S360F | Missense | SNP | 0.386 | 2 | - | - |
PCDHGA6 | p.T628M | Missense | SNP | 0.442 | 2 | - | - |
PCDHGB3 | p.V449I | Missense | SNP | 0.547 | 2 | - | - |
PCED1A | p.E119K | Missense | SNP | 0.363 | 2 | - | - |
PCM1 | p.F1681L | Missense | SNP | 0.573 | 3 | Gain | - |
PCMTD1 | - | - | - | - | 3 | Gain | - |
PDE10A | p.C418R | Missense | SNP | 0.420 | 2 | - | - |
PDE7A | - | - | - | - | 3 | Gain | - |
PDGFRL | - | - | - | - | 3 | Gain | - |
PDIA2 | p.Q4* | Nonsense | SNP | 0.600 | 2 | - | - |
PDLIM2 | - | - | - | - | 3 | Gain | - |
PDP1 | - | - | - | - | 3 | Gain | - |
PDXP | - | - | - | - | 3 | Gain | - |
PDZRN4 | p.R190C | Missense | SNP | 0.443 | 2 | - | - |
PEBP4 | - | - | - | - | 3 | Gain | - |
PEG3 | p.G59E | Missense | SNP | 0.562 | 2 | - | - |
PENK | - | - | - | - | 3 | Gain | - |
PEX2 | - | - | - | - | 3 | Gain | - |
PFAS | p.K440N | Missense | SNP | 0.516 | 2 | - | - |
PGLYRP2 | p.T487I | Missense | SNP | 0.723 | 2 | - | - |
PGR | p.E791* | Nonsense | SNP | 0.404 | 2 | - | - |
PHF20L1 | - | - | - | - | 3 | Gain | - |
PHKG2 | p.X216_splice | Splice_Site | SNP | 0.522 | 2 | - | - |
PHLPP1 | p.Q1131H | Missense | SNP | 0.507 | 2 | - | - |
PHOSPHO1 | p.R249H | Missense | SNP | 0.532 | 2 | - | - |
PHYHIP | p.A235V | Missense | SNP | 0.335 | 3 | Gain | - |
PI15 | - | - | - | - | 3 | Gain | - |
PI4KA | p.K1808N | Missense | SNP | 0.531 | 2 | - | - |
PIK3C3 | p.G48R | Missense | SNP | 0.406 | 2 | - | - |
PIK3CG | p.Q105K | Missense | SNP | 0.461 | ND | ND | - |
PINLYP | p.T214I | Missense | SNP | 0.427 | 2 | - | - |
PINX1 | - | - | - | - | 3 | Gain | - |
PIP4P2 | - | - | - | - | 3 | Gain | - |
PITPNM2 | p.H1042Y | Missense | SNP | 0.465 | 2 | - | - |
PIWIL2 | - | - | - | - | 3 | Gain | - |
PJA1 | p.A423T | Missense | SNP | 0.491 | ND | ND | - |
PKD1L1 | p.R256H | Missense | SNP | 0.500 | 2 | - | - |
PKHD1 | p.V1716I | Missense | SNP | 0.448 | 2 | - | - |
PKHD1L1 | - | - | - | - | 3 | Gain | - |
PKIA | - | - | - | - | 3 | Gain | - |
PKN1 | p.R510H | Missense | SNP | 0.464 | 2 | - | - |
PLA2G2A | p.G45S | Missense | SNP | 0.597 | 2 | - | - |
PLA2G2E | p.M27T | Missense | SNP | 0.477 | 2 | - | - |
PLAG1 | - | - | - | - | 3 | Gain | - |
PLAT | - | - | - | - | 3 | Gain | - |
PLCE1 | p.R2015I | Missense | SNP | 0.596 | 2 | - | - |
PLCG1 | p.X1186_splice | Splice_Site | SNP | 0.436 | 2 | - | - |
PLEC | p.D817N | Missense | SNP | 0.672 | 3 | Gain | - |
PLEKHA2 | - | - | - | - | 3 | Gain | - |
PLEKHA4 | p.P474L | Missense | SNP | 0.572 | 2 | - | - |
PLEKHF2 | - | - | - | - | 3 | Gain | - |
PLPBP | - | - | - | - | 3 | Gain | - |
PLPP5 | - | - | - | - | 3 | Gain | - |
PLSCR5 | p.N141S | Missense | SNP | 0.432 | 2 | - | - |
PLXNA4 | p.V1197I | Missense | SNP | 0.459 | 2 | - | - |
PLXNB3 | p.A1867V | Missense | SNP | 0.519 | ND | ND | - |
PMP2 | - | - | - | - | 3 | Gain | - |
PNMA2 | - | - | - | - | 3 | Gain | - |
PNOC | - | - | - | - | 3 | Gain | - |
POLB | - | - | - | - | 3 | Gain | - |
POLN | p.F898S | Missense | SNP | 0.429 | 2 | - | - |
POLR2A | p.G816R | Missense | SNP | 0.479 | 2 | - | - |
POLR2K | - | - | - | - | 3 | Gain | - |
POLR3D | - | - | - | - | 3 | Gain | - |
POLR3E | p.T705I | Missense | SNP | 0.425 | 2 | - | - |
POM121L2 | p.S846P | Missense | SNP | 0.456 | 2 | - | - |
POMK | - | - | - | - | 3 | Gain | - |
POP1 | - | - | - | - | 3 | Gain | - |
POR | p.A661V | Missense | SNP | 0.522 | 2 | - | - |
POU5F1B | - | - | - | - | 3 | Gain | - |
PPDPFL | - | - | - | - | 3 | Gain | - |
PPFIBP2 | p.R754L | Missense | SNP | 0.553 | 2 | - | - |
PPP1R16A | - | - | - | - | 3 | Gain | - |
PPP1R3B | - | - | - | - | 3 | Gain | - |
PPP1R42 | - | - | - | - | 3 | Gain | - |
PPP2CB | - | - | - | - | 3 | Gain | - |
PPP2R2A | p.S123P | Missense | SNP | 0.292 | 3 | Gain | - |
PPP2R2B | p.S349L | Missense | SNP | 0.454 | 2 | - | - |
PPP3CC | - | - | - | - | 3 | Gain | - |
PQLC1 | - | - | - | - | 1 | Loss | - |
PRAG1 | - | - | - | - | 1 | Loss | - |
PRDM14 | - | - | - | - | 3 | Gain | - |
PREX2 | - | - | - | - | 3 | Gain | - |
PRKCD | p.R144C | Missense | SNP | 0.440 | 2 | - | - |
PRKCH | p.R147K | Missense | SNP | 0.414 | 2 | - | - |
PRKDC | p.M3450I | Missense | SNP | 0.752 | 3 | Gain | - |
PRKX | p.G132D | Missense | SNP | 0.200 | ND | ND | - |
PRPF31 | p.V92I | Missense | SNP | 0.532 | 2 | - | - |
PRPF38B | p.R301C | Missense | SNP | 0.438 | 2 | - | - |
PRR23D1 | - | - | - | - | 1 | Loss | - |
PRR23D2 | - | - | - | - | 1 | Loss | - |
PRSS55 | - | - | - | - | 3 | Gain | - |
PRSS56 | p.X86_splice | Splice_Site | SNP | 0.464 | 2 | - | - |
PRTG | p.R282W | Missense | SNP | 0.536 | 2 | - | - |
PRUNE1 | p.L151M | Missense | SNP | 0.482 | 2 | - | - |
PSCA | - | - | - | - | 3 | Gain | - |
PSD3 | - | - | - | - | 3 | Gain | - |
PSG1 | - | - | - | - | 1 | Loss | - |
PSG11 | - | - | - | - | 1 | Loss | - |
PSG2 | - | - | - | - | 1 | Loss | - |
PSG4 | - | - | - | - | 1 | Loss | - |
PSG5 | - | - | - | - | 1 | Loss | - |
PSG6 | - | - | - | - | 1 | Loss | - |
PSG7 | - | - | - | - | 1 | Loss | - |
PSG8 | - | - | - | - | 1 | Loss | - |
PSG9 | - | - | - | - | 1 | Loss | - |
PSKH2 | - | - | - | - | 3 | Gain | - |
PSMD12 | p.X388_splice | Splice_Site | SNP | 0.336 | 2 | - | - |
PSORS1C1 | - | - | - | - | 3 | Gain | - |
PSORS1C2 | - | - | - | - | 3 | Gain | - |
PTDSS1 | - | - | - | - | 3 | Gain | - |
PTF1A | p.G227S | Missense | SNP | 0.397 | 2 | - | - |
PTK2 | - | - | - | - | 3 | Gain | - |
PTK2B | - | - | - | - | 3 | Gain | - |
PTP4A3 | - | - | - | - | 3 | Gain | - |
PTPRD | p.A1900T | Missense | SNP | 0.505 | 2 | - | - |
PTPRN | p.A34T | Missense | SNP | 0.528 | 2 | - | - |
PUF60 | - | - | - | - | 3 | Gain | - |
PURG | - | - | - | - | 3 | Gain | - |
PXDN | p.R1129C | Missense | SNP | 0.419 | 2 | - | - |
PXDNL | p.Q1322H | Missense | SNP | 0.323 | 3 | Gain | - |
PYCR3 | - | - | - | - | 3 | Gain | - |
QTRT2 | p.D110N | Missense | SNP | 0.512 | 2 | - | - |
R3HCC1 | - | - | - | - | 3 | Gain | - |
RAB11FIP1 | - | - | - | - | 3 | Gain | - |
RAB11FIP4 | p.V110M | Missense | SNP | 0.496 | 2 | - | - |
RAB18 | p.E3D | Missense | SNP | 0.481 | 2 | - | - |
RAB20 | p.R29H | Missense | SNP | 0.549 | 2 | - | - |
RAB2A | - | - | - | - | 3 | Gain | - |
RAB3GAP1 | p.V657A | Missense | SNP | 0.485 | 2 | - | - |
RAC2 | p.C157Y p.R102W | Missense Missense | SNP SNP | 0.442 0.512 | 2 | - | - |
RAD21 | - | - | - | - | 3 | Gain | - |
RAD54B | - | - | - | - | 3 | Gain | - |
RAD54L2 | p.R467L | Missense | SNP | 0.404 | 2 | - | - |
RADIL | p.H896Y | Missense | SNP | 0.481 | 2 | - | - |
RAF1 | p.C577Y | Missense | SNP | 0.511 | 2 | - | - |
RALYL | - | - | - | - | 3 | Gain | - |
RAX | p.D45N | Missense | SNP | 0.446 | 2 | - | - |
RB1CC1 | - | - | - | - | 3 | Gain | - |
RBAK-RBAKDN | p.R108C | Missense | SNP | 0.559 | 2 | - | - |
RBFA | - | - | - | - | 1 | Loss | - |
RBM12B | - | - | - | - | 3 | Gain | - |
RBM33 | p.E207D | Missense | SNP | 0.462 | 2 | - | - |
RBPMS | - | - | - | - | 3 | Gain | - |
RC3H1 | p.K48N | Missense | SNP | 0.500 | 2 | - | - |
RCN3 | p.R103C | Missense | SNP | 0.521 | 2 | - | - |
RDH10 | - | - | - | - | 3 | Gain | - |
RECQL4 | - | - | - | - | 3 | Gain | - |
REEP4 | - | - | - | - | 3 | Gain | - |
RET | p.R114C | Missense | SNP | 0.532 | 2 | - | - |
RFX6 | p.R652* | Nonsense | SNP | 0.511 | 2 | - | - |
RGAG1 | p.E318D | Missense | SNP | 0.435 | ND | ND | - |
RGS20 | - | - | - | - | 3 | Gain | - |
RGS22 | - | - | - | - | 3 | Gain | - |
RHOBTB2 | - | - | - | - | 3 | Gain | - |
RHPN1 | - | - | - | - | 3 | Gain | - |
RIDA | - | - | - | - | 3 | Gain | - |
RIMS2 | - | - | - | - | 3 | Gain | - |
RIOK3 | p.V496I | Missense | SNP | 0.477 | 2 | - | - |
RIPK2 | - | - | - | - | 3 | Gain | - |
RMDN1 | - | - | - | - | 3 | Gain | - |
RNF122 | - | - | - | - | 3 | Gain | - |
RNF139 | - | - | - | - | 3 | Gain | - |
RNF14 | p.S2L | Missense | SNP | 0.252 | 2 | - | - |
RNF170 | - | - | - | - | 3 | Gain | - |
RNF19A | - | - | - | - | 3 | Gain | - |
RNF34 | p.V148A | Missense | SNP | 0.214 | 2 | - | - |
RNF40 | p.S159I | Missense | SNP | 0.621 | 2 | - | - |
ROBO2 | p.A279V | Missense | SNP | 0.438 | 2 | - | - |
ROR2 | p.A23T | Missense | SNP | 0.507 | 2 | - | - |
RORA | p.A66V | Missense | SNP | 0.471 | 2 | - | - |
RP1 | - | - | - | - | 3 | Gain | - |
RP11-310K10.1 | p.K944E | Missense | SNP | 0.480 | ND | ND | - |
RP11-318A15.7 | p.S100R | Missense | SNP | 0.395 | ND | ND | - |
RP1L1 | - | - | - | - | 3 | Gain | - |
RP5-862P8.2 | p.R553Q | Missense | SNP | 0.534 | ND | ND | - |
RPE | p.A187T | Missense | SNP | 0.450 | 2 | - | - |
RPL13 | p.A202S | Missense | SNP | 0.577 | 2 | - | - |
RPL19 | p.R172C | Missense | SNP | 0.517 | 2 | - | - |
RPL30 | - | - | - | - | 3 | Gain | - |
RPL7 | - | - | - | - | 3 | Gain | - |
RPL8 | - | - | - | - | 3 | Gain | - |
RPS20 | - | - | - | - | 3 | Gain | - |
RRM2B | p.A94S | Missense | SNP | 0.192 | 3 | Gain | - |
RRS1 | - | - | - | - | 3 | Gain | - |
RSPH14 | p.A295V | Missense | SNP | 0.503 | 2 | - | - |
RSPO2 | - | - | - | - | 3 | Gain | - |
RTP5 | p.V554I | Missense | SNP | 0.479 | 2 | - | - |
RUNX1T1 | - | - | - | - | 3 | Gain | - |
RYR1 | p.H1412Q | Missense | SNP | 0.505 | 2 | - | - |
RYR2 | p.V1579M | Missense | SNP | 0.486 | 2 | - | - |
SAG | p.D307G | Missense | SNP | 0.472 | 2 | - | - |
SALL3 | - | - | - | - | 1 | Loss | - |
SALL4 | p.A450V | Missense | SNP | 0.480 | 2 | - | - |
SAMD12 | - | - | - | - | 3 | Gain | - |
SARAF | - | - | - | - | 3 | Gain | - |
SASH1 | p.X172_splice | Splice_Site | SNP | 0.461 | 2 | - | - |
SBSPON | - | - | - | - | 3 | Gain | - |
SCARA3 | - | - | - | - | 3 | Gain | - |
SCARA5 | - | - | - | - | 3 | Gain | - |
SCART1 | - | - | - | - | 3 | Gain | - |
SCRIB | - | - | - | - | 3 | Gain | - |
SCRT1 | - | - | - | - | 3 | Gain | - |
SCX | - | - | - | - | 3 | Gain | - |
SDC2 | - | - | - | - | 3 | Gain | - |
SDCBP | - | - | - | - | 3 | Gain | - |
SDR16C5 | - | - | - | - | 3 | Gain | - |
SELENOM | - | - | - | - | 3 | Gain | - |
SEMA3A | p.S332R | Missense | SNP | 0.486 | 2 | - | - |
SEMA4G | p.K664E | Missense | SNP | 0.511 | 2 | - | - |
SENP3 | p.R131K | Missense | SNP | 0.594 | 2 | - | - |
SEPT9 | p.W6C | Missense | SNP | 0.393 | 2 | - | - |
SERPINA4 | p.H395Q | Missense | SNP | 0.441 | 2 | - | - |
SERPING1 | p.V288G | Missense | SNP | 0.603 | 2 | - | - |
SF3B2 | p.G796R | Missense | SNP | 0.533 | 2 | - | - |
SFRP1 | - | - | - | - | 3 | Gain | - |
SFSWAP | p.E179K | Missense | SNP | 0.450 | 2 | - | - |
SFTPC | - | - | - | - | 3 | Gain | - |
SGCZ | - | - | - | - | 3 | Gain | - |
SGK3 | - | - | - | - | 3 | Gain | - |
SH2D2A | p.Q82H | Missense | SNP | 0.568 | 2 | - | - |
SH2D4A | - | - | - | - | 3 | Gain | - |
SH3BP1 | - | - | - | - | 3 | Gain | - |
SHARPIN | - | - | - | - | 3 | Gain | - |
SHE | p.G32S | Missense | SNP | 0.579 | 2 | - | - |
SHROOM2 | p.E1484Q | Missense | SNP | 0.473 | ND | ND | - |
SLA | - | - | - | - | 3 | Gain | - |
SLC10A5 | - | - | - | - | 3 | Gain | - |
SLC12A5 | p.G210D | Missense | SNP | 0.512 | 2 | - | - |
SLC18A1 | - | - | - | - | 3 | Gain | - |
SLC18A3 | p.P144S | Missense | SNP | 0.505 | 2 | - | - |
SLC20A2 | - | - | - | - | 3 | Gain | - |
SLC25A32 | - | - | - | - | 3 | Gain | - |
SLC25A34 | p.G303C | Missense | SNP | 0.627 | 2 | - | - |
SLC25A37 | - | - | - | - | 3 | Gain | - |
SLC26A7 | - | - | - | - | 3 | Gain | - |
SLC27A5 | p.R650H | Missense | SNP | 0.414 | 2 | - | - |
SLC30A8 | - | - | - | - | 3 | Gain | - |
SLC35F6 | p.A252T | Missense | SNP | 0.481 | 2 | - | - |
SLC35G5 | - | - | - | - | 3 | Gain | - |
SLC37A1 | p.X188_splice | Splice_Site | SNP | 0.423 | 2 | - | - |
SLC39A14 | - | - | - | - | 3 | Gain | - |
SLC39A4 | - | - | - | - | 3 | Gain | - |
SLC45A4 | - | - | - | - | 3 | Gain | - |
SLC52A2 | - | - | - | - | 3 | Gain | - |
SLC7A13 | - | - | - | - | 3 | Gain | - |
SLC7A2 | - | - | - | - | 3 | Gain | - |
SLC7A4 | p.P420S | Missense | SNP | 0.443 | 2 | - | - |
SLC8A2 | p.R552H | Missense | SNP | 0.421 | 2 | - | - |
SLC9A3R2 | p.A115T | Missense | SNP | 0.489 | 2 | - | - |
SLC9A5 | p.A287T | Missense | SNP | 0.234 | 2 | - | - |
SLCO3A1 | p.A243V | Missense | SNP | 0.560 | 2 | - | - |
SLCO5A1 | - | - | - | - | 3 | Gain | - |
SLFNL1 | p.Q290* | Nonsense | SNP | 0.379 | 2 | - | - |
SLIT2 | p.G1153E | Missense | SNP | 0.489 | 2 | - | - |
SLITRK4 | p.T675I | Missense | SNP | 0.421 | ND | ND | - |
SLITRK5 | p.A745V | Missense | SNP | 0.528 | 2 | - | - |
SLURP1 | - | - | - | - | 3 | Gain | - |
SLURP2 | - | - | - | - | 3 | Gain | - |
SMARCA4 | p.T910M | Missense | SNP | 0.549 | 2 | - | - |
SMC4 | p.N1278K | Missense | SNP | 0.471 | 2 | - | - |
SMG5 | p.E730* | Nonsense | SNP | 0.423 | 2 | - | - |
SMIM18 | - | - | - | - | 3 | Gain | - |
SMIM19 | - | - | - | - | 3 | Gain | - |
SNAI2 | - | - | - | - | 3 | Gain | - |
SNAP25 | p.K94E | Missense | SNP | 0.402 | 2 | - | - |
SNTB1 | - | - | - | - | 3 | Gain | - |
SNTG1 | - | - | - | - | 3 | Gain | - |
SNX16 | - | - | - | - | 3 | Gain | - |
SNX18 | p.S549R | Missense | SNP | 0.495 | 2 | - | - |
SNX31 | - | - | - | - | 3 | Gain | - |
SNX4 | p.R106* | Nonsense | SNP | 0.482 | 2 | - | - |
SNX9 | - | - | - | - | 2 | - | SNX9--TULP4 |
SOAT1 | p.V184I | Missense | SNP | 0.608 | 2 | - | - |
SOCS3 | p.R39H | Missense | SNP | 0.373 | 2 | - | - |
SORBS3 | - | - | - | - | 3 | Gain | - |
SORCS2 | p.V322C | Missense | DNP | 0.469 | 2 | - | - |
SOX17 | - | - | - | - | 3 | Gain | - |
SOX7 | - | - | - | - | 3 | Gain | - |
SP8 | p.A200T | Missense | SNP | 0.448 | 2 | - | - |
SPAG1 | - | - | - | - | 3 | Gain | - |
SPAG11A | - | - | - | - | 1 | Loss | - |
SPAG11B | - | - | - | - | 1 | Loss | - |
SPATA31D1 | p.F1043L | Missense | SNP | 0.455 | 2 | - | - |
SPATC1 | - | - | - | - | 3 | Gain | - |
SPHKAP | p.L702M | Missense | SNP | 0.503 | 2 | - | - |
SPIDR | - | - | - | - | 3 | Gain | - |
SPRN | - | - | - | - | 3 | Gain | - |
SPRYD3 | p.R280Q | Missense | SNP | 0.466 | 2 | - | - |
SQLE | - | - | - | - | 3 | Gain | - |
SRRM3 | p.X213_splice | Splice_Site | SNP | 0.485 | 2 | - | - |
ST18 | - | - | - | - | 3 | Gain | - |
ST3GAL1 | - | - | - | - | 3 | Gain | - |
ST6GALNAC1 | p.X44_splice | Splice_Site | SNP | 0.417 | 2 | - | - |
ST6GALNAC5 | p.C280Y | Missense | SNP | 0.464 | 2 | - | - |
STAB1 | p.C1430R | Missense | SNP | 0.457 | 2 | - | - |
STAR | - | - | - | - | 3 | Gain | - |
STARD9 | p.S3692L p.L3745M | Missense Missense | SNP SNP | 0.524 0.468 | 2 | - | - |
STAT1 | p.H568Y | Missense | SNP | 0.475 | 2 | - | - |
STAT4 | p.T430M | Missense | SNP | 0.491 | 2 | - | - |
STAU2 | - | - | - | - | 3 | Gain | - |
STC1 | - | - | - | - | 3 | Gain | - |
STEAP4 | p.M238T | Missense | SNP | 0.467 | 2 | - | - |
STK19 | - | - | - | - | 1 | Loss | - |
STK3 | - | - | - | - | 3 | Gain | - |
STMN2 | - | - | - | - | 3 | Gain | - |
STMN4 | - | - | - | - | 3 | Gain | - |
SUCO | p.R1033M | Missense | SNP | 0.544 | 2 | - | - |
SUGP2 | p.A826V | Missense | SNP | 0.483 | 2 | - | - |
SULF1 | - | - | - | - | 3 | Gain | - |
SULT1E1 | p.R77* | Nonsense | SNP | 0.455 | 2 | - | - |
SUPT6H | p.R904W p.I1377V | Missense Missense | SNP SNP | 0.577 0.523 | 2 | - | - |
SWT1 | p.T599S | Missense | SNP | 0.522 | 2 | - | - |
SYBU | - | - | - | - | 3 | Gain | - |
SYCE1 | p.A2T | Missense | SNP | 0.282 | 3 | Gain | - |
SYNE1 | p.A5425V | Missense | SNP | 0.408 | 2 | - | - |
SYT3 | p.V70L | Missense | SNP | 0.453 | 2 | - | - |
TACC1 | - | - | - | - | 3 | Gain | - |
TACC3 | p.G240E | Missense | SNP | 0.496 | 2 | - | - |
TAF2 | - | - | - | - | 3 | Gain | - |
TAF4B | p.P80S | Missense | SNP | 0.466 | 2 | - | - |
TAF8 | p.V208I | Missense | SNP | 0.562 | 2 | - | - |
TAS2R8 | p.D224N | Missense | SNP | 0.596 | 2 | - | - |
TATDN1 | - | - | - | - | 3 | Gain | - |
TBC1D10A | p.V313A | Missense | SNP | 0.538 | 2 | - | - |
TBC1D31 | - | - | - | - | 3 | Gain | - |
TBC1D4 | p.L431P | Missense | SNP | 0.430 | 2 | - | - |
TBC1D9 | p.V889I | Missense | SNP | 0.525 | 2 | - | - |
TBC1D9B | p.A1205D | Missense | SNP | 0.433 | 2 | - | - |
TBL2 | p.M96I | Missense | SNP | 0.476 | 2 | - | - |
TBX2 | p.H17N | Missense | SNP | 0.468 | 2 | - | - |
TBX22 | p.P346H | Missense | SNP | 0.447 | ND | ND | - |
TCEA1 | - | - | - | - | 3 | Gain | - |
TCF24 | - | - | - | - | 3 | Gain | - |
TCIM | - | - | - | - | 3 | Gain | - |
TDRD15 | p.Y1735C | Missense | SNP | 0.546 | 2 | - | - |
TDRD6 | p.Q790P | Missense | SNP | 0.450 | 2 | - | - |
TDRP | - | - | - | - | 3 | Gain | - |
TECPR1 | p.P184H | Missense | SNP | 0.462 | 2 | - | - |
TEDDM1 | p.M74V | Missense | SNP | 0.509 | 2 | - | - |
TEFM | p.R178Q | Missense | SNP | 0.581 | 2 | - | - |
TERF1 | - | - | - | - | 3 | Gain | - |
TEX15 | - | - | - | - | 3 | Gain | - |
TFPI | p.V292R | Missense | DNP | 0.250 | 2 | - | - |
TG | - | - | - | - | 3 | Gain | - |
TGS1 | - | - | - | - | 3 | Gain | - |
TH | p.P320H | Missense | SNP | 0.360 | 2 | - | - |
THAP1 | - | - | - | - | 3 | Gain | - |
THEM6 | - | - | - | - | 3 | Gain | - |
TIGD5 | - | - | - | - | 3 | Gain | - |
TIMM10 | p.L59M | Missense | SNP | 0.429 | 2 | - | - |
TJAP1 | p.R159M | Missense | SNP | 0.529 | 2 | - | - |
TJP1 | p.P1293L | Missense | SNP | 0.455 | 2 | - | - |
TLE6 | p.S343F | Missense | SNP | 0.420 | 2 | - | - |
TLL2 | p.G947S | Missense | SNP | 0.516 | 2 | - | - |
TLR4 | p.K166T p.G410C | Missense Missense | SNP SNP | 0.277 0.479 | 2 | - | - |
TM2D2 | - | - | - | - | 3 | Gain | - |
TMEM187 | p.A128V | Missense | SNP | 0.459 | ND | ND | - |
TMEM200C | p.K535N | Missense | SNP | 0.591 | 2 | - | - |
TMEM249 | - | - | - | - | 3 | Gain | - |
TMEM256-PLSCR3 | p.R235S | Missense | SNP | 0.250 | 2 | - | - |
TMEM260 | p.N506D | Missense | SNP | 0.612 | 2 | - | - |
TMEM64 | - | - | - | - | 3 | Gain | - |
TMEM65 | - | - | - | - | 3 | Gain | - |
TMEM67 | - | - | - | - | 3 | Gain | - |
TMEM68 | - | - | - | - | 3 | Gain | - |
TMEM70 | - | - | - | - | 3 | Gain | - |
TMEM71 | - | - | - | - | 3 | Gain | - |
TMEM74 | - | - | - | - | 3 | Gain | - |
TMIGD1 | p.W155R | Missense | SNP | 0.426 | 2 | - | - |
TNFRSF10A | - | - | - | - | 3 | Gain | - |
TNFRSF10B | - | - | - | - | 3 | Gain | - |
TNFRSF10C | - | - | - | - | 3 | Gain | - |
TNFRSF10D | - | - | - | - | 3 | Gain | - |
TNFRSF11B | - | - | - | - | 3 | Gain | - |
TNK1 | p.R207C | Missense | SNP | 0.571 | 2 | - | - |
TNKS | - | - | - | - | 3 | Gain | - |
TOB2 | p.A171T | Missense | SNP | 0.580 | 2 | - | - |
TONSL | - | - | - | - | 3 | Gain | - |
TOP1MT | - | - | - | - | 3 | Gain | - |
TOX | - | - | - | - | 3 | Gain | - |
TP53INP1 | - | - | - | - | 3 | Gain | - |
TPCN1 | p.G831V | Missense | SNP | 0.449 | 2 | - | - |
TPD52 | - | - | - | - | 3 | Gain | - |
TPR | p.E2289K | Missense | SNP | 0.600 | 2 | - | - |
TRADD | p.R271C | Missense | SNP | 0.366 | 2 | - | - |
TRAM1 | - | - | - | - | 3 | Gain | - |
TRANK1 | p.G1269R | Missense | SNP | 0.540 | 2 | - | - |
TRAPPC9 | - | - | - | - | 3 | Gain | - |
TRHR | - | - | - | - | 3 | Gain | - |
TRIB1 | - | - | - | - | 3 | Gain | - |
TRIM28 | p.R487* | Nonsense | SNP | 0.451 | 2 | - | - |
TRIM3 | p.R433C | Missense | SNP | 0.538 | 2 | - | - |
TRIM31 | p.F51L | Missense | SNP | 0.392 | 2 | - | - |
TRIM35 | - | - | - | - | 3 | Gain | - |
TRIM55 | - | - | - | - | 3 | Gain | - |
TRIM72 | p.R166C | Missense | SNP | 0.477 | 2 | - | - |
TRIM9 | p.A265D | Missense | SNP | 0.469 | 2 | - | - |
TRIOBP | - | - | - | - | 3 | Gain | - |
TRIQK | - | - | - | - | 3 | Gain | - |
TRMT11 | p.R127Q | Missense | SNP | 0.573 | 2 | - | - |
TRMT12 | - | - | - | - | 3 | Gain | - |
TRMT9B | - | - | - | - | 3 | Gain | - |
TRPA1 | - | - | - | - | 3 | Gain | - |
TRPS1 | - | - | - | - | 3 | Gain | - |
TSC22D4 | p.L100M | Missense | SNP | 0.457 | 2 | - | - |
TSKU | p.L207M | Missense | SNP | 0.582 | 2 | - | - |
TSNARE1 | - | - | - | - | 3 | Gain | - |
TSPOAP1 | p.P792A | Missense | SNP | 0.507 | 2 | - | - |
TSPYL5 | p.L309F | Missense | SNP | 0.262 | 3 | Gain | - |
TSSK1B | p.A93V | Missense | SNP | 0.390 | 2 | - | - |
TSTA3 | - | - | - | - | 3 | Gain | - |
TTC12 | p.Q34* | Nonsense | SNP | 0.573 | 2 | - | - |
TTC13 | p.K649N | Missense | SNP | 0.576 | 2 | - | - |
TTC3 | p.S1453I | Missense | SNP | 0.622 | 2 | - | - |
TTC6 | p.E298* | Nonsense | SNP | 0.456 | 2 | - | - |
TTI2 | - | - | - | - | 3 | Gain | - |
TTN | p.D20968G | Missense | SNP | 0.514 | 2 | - | - |
TTPA | - | - | - | - | 3 | Gain | - |
TTYH2 | p.T33A | Missense | SNP | 0.447 | 2 | - | - |
TUBA3E | p.V14I | Missense | SNP | 0.509 | 2 | - | - |
TUBG1 | p.L85F | Missense | SNP | 0.447 | 2 | - | - |
TULP4 | - | - | - | - | 2 | - | SNX9--TULP4 |
TUSC3 | p.R117C | Missense | SNP | 0.230 | 3 | Gain | - |
TXNL1 | p.R202Q | Missense | SNP | 0.493 | 2 | - | - |
TXNL4A | - | - | - | - | 1 | Loss | - |
UBE2V2 | - | - | - | - | 3 | Gain | - |
UBE2W | - | - | - | - | 3 | Gain | - |
UBE4A | p.A809V | Missense | SNP | 0.607 | 2 | - | - |
UBN2 | p.R464H | Missense | SNP | 0.569 | 2 | - | - |
UBR4 | p.V3599L | Missense | SNP | 0.447 | 2 | - | - |
UBR5 | - | - | - | - | 3 | Gain | - |
UBXN2B | - | - | - | - | 3 | Gain | - |
UBXN8 | - | - | - | - | 3 | Gain | - |
UCP1 | p.A20S | Missense | SNP | 0.498 | 2 | - | - |
UNC13A | p.X256_splice | Splice_Site | SNP | 0.500 | 2 | - | - |
UNC5D | - | - | - | - | 3 | Gain | - |
UPP1 | p.A266T | Missense | SNP | 0.659 | 2 | - | - |
UQCRB | - | - | - | - | 3 | Gain | - |
USH2A | p.R3545W p.G3373* | Missense Nonsense | SNP SNP | 0.538 0.475 | 2 | - | - |
USP17L1 | - | - | - | - | 1 | Loss | - |
USP17L3 | - | - | - | - | 1 | Loss | - |
USP17L4 | - | - | - | - | 1 | Loss | - |
USP17L7 | - | - | - | - | 3 | Gain | - |
USP17L8 | - | - | - | - | 1 | Loss | - |
USP28 | p.A333V | Missense | SNP | 0.554 | 2 | - | - |
USP54 | p.D394N | Missense | SNP | 0.514 | 2 | - | - |
USP6 | p.Y716C | Missense | SNP | 0.552 | 2 | - | - |
UTF1 | p.E253K | Missense | SNP | 0.525 | 2 | - | - |
UTP23 | - | - | - | - | 3 | Gain | - |
VCPIP1 | - | - | - | - | 3 | Gain | - |
VDAC3 | - | - | - | - | 3 | Gain | - |
VIRMA | - | - | - | - | 3 | Gain | - |
VPS13B | - | - | - | - | 3 | Gain | - |
VPS28 | - | - | - | - | 3 | Gain | - |
VPS37A | - | - | - | - | 3 | Gain | - |
VPS45 | p.Y129C | Missense | SNP | 0.523 | 2 | - | - |
VWA2 | p.A689V | Missense | SNP | 0.494 | 2 | - | - |
VWA3B | p.S1165P | Missense | SNP | 0.462 | 2 | - | - |
VXN | - | - | - | - | 3 | Gain | - |
WASHC5 | - | - | - | - | 3 | Gain | - |
WBP11 | p.R86C | Missense | SNP | 0.371 | 2 | - | - |
WBP2 | p.L22I | Missense | SNP | 0.159 | 2 | - | - |
WDR35 | p.R831H | Missense | SNP | 0.449 | 2 | - | - |
WDR64 | p.I920S | Missense | SNP | 0.536 | 2 | - | - |
WDR93 | p.R397Q | Missense | SNP | 0.454 | 2 | - | - |
WDR97 | - | - | - | - | 3 | Gain | - |
WDYHV1 | - | - | - | - | 3 | Gain | - |
WIF1 | p.L18I | Missense | SNP | 0.462 | 2 | - | - |
WISP1 | - | - | - | - | 3 | Gain | - |
WNK4 | p.R511C | Missense | SNP | 0.478 | 2 | - | - |
WRN | - | - | - | - | 3 | Gain | - |
WWP1 | - | - | - | - | 3 | Gain | - |
XIRP1 | p.G773E | Missense | SNP | 0.546 | 2 | - | - |
XKR4 | - | - | - | - | 3 | Gain | - |
XKR5 | - | - | - | - | 3 | Gain | - |
XKR6 | - | - | - | - | 3 | Gain | - |
XKR9 | - | - | - | - | 3 | Gain | - |
XPO1 | p.A854V | Missense | SNP | 0.535 | 2 | - | - |
XPO6 | p.E816K | Missense | SNP | 0.466 | 2 | - | - |
XPO7 | - | - | - | - | 3 | Gain | - |
YTHDF3 | - | - | - | - | 3 | Gain | - |
YWHAZ | - | - | - | - | 3 | Gain | - |
Z83844.1 | - | - | - | - | 3 | Gain | - |
Z83844.3 | - | - | - | - | 3 | Gain | - |
ZBTB10 | - | - | - | - | 3 | Gain | - |
ZBTB14 | p.S287Y | Missense | SNP | 0.444 | 2 | - | - |
ZBTB16 | p.Q93K | Missense | SNP | 0.399 | 2 | - | - |
ZBTB24 | p.V262I | Missense | SNP | 0.436 | 2 | - | - |
ZC2HC1A | - | - | - | - | 3 | Gain | - |
ZC3H3 | - | - | - | - | 3 | Gain | - |
ZCCHC5 | p.S432I | Missense | SNP | 0.533 | ND | ND | - |
ZDHHC2 | - | - | - | - | 3 | Gain | - |
ZEB2 | p.G121R | Missense | SNP | 0.464 | 2 | - | - |
ZFAND1 | - | - | - | - | 3 | Gain | - |
ZFAT | - | - | - | - | 3 | Gain | - |
ZFHX3 | p.P184H | Missense | SNP | 0.542 | 2 | - | - |
ZFHX4 | - | - | - | - | 3 | Gain | - |
ZFP41 | - | - | - | - | 3 | Gain | - |
ZFPM2 | p.E59* | Nonsense | SNP | 0.371 | 3 | Gain | - |
ZFYVE28 | p.D41Y | Missense | SNP | 0.516 | 2 | - | - |
ZHX1 | - | - | - | - | 3 | Gain | - |
ZHX1-C8orf76 | - | - | - | - | 3 | Gain | - |
ZHX2 | - | - | - | - | 3 | Gain | - |
ZMAT4 | - | - | - | - | 3 | Gain | - |
ZMYM6 | p.A1001V | Missense | SNP | 0.461 | 2 | - | - |
ZMYND11 | p.L108F | Missense | SNP | 0.447 | 2 | - | - |
ZNF134 | p.T423I | Missense | SNP | 0.522 | 2 | - | - |
ZNF16 | - | - | - | - | 3 | Gain | - |
ZNF222 | - | - | - | - | 1 | Loss | - |
ZNF223 | - | - | - | - | 1 | Loss | - |
ZNF224 | - | - | - | - | 1 | Loss | - |
ZNF225 | - | - | - | - | 1 | Loss | - |
ZNF226 | - | - | - | - | 1 | Loss | - |
ZNF227 | - | - | - | - | 1 | Loss | - |
ZNF230 | - | - | - | - | 1 | Loss | - |
ZNF234 | - | - | - | - | 1 | Loss | - |
ZNF235 | - | - | - | - | 1 | Loss | - |
ZNF250 | - | - | - | - | 3 | Gain | - |
ZNF251 | - | - | - | - | 3 | Gain | - |
ZNF284 | - | - | - | - | 1 | Loss | - |
ZNF317 | p.C311Y | Missense | SNP | 0.496 | 2 | - | - |
ZNF324 | p.A183V | Missense | SNP | 0.524 | 2 | - | - |
ZNF335 | p.R284C | Missense | SNP | 0.409 | 2 | - | - |
ZNF34 | - | - | - | - | 3 | Gain | - |
ZNF395 | - | - | - | - | 3 | Gain | - |
ZNF407 | p.V956I | Missense | SNP | 0.494 | 2 | - | - |
ZNF419 | p.L73M | Missense | SNP | 0.544 | 2 | - | - |
ZNF423 | p.L1146R | Missense | SNP | 0.542 | 2 | - | - |
ZNF430 | p.I281L | Missense | SNP | 0.463 | 2 | - | - |
ZNF461 | p.P412L | Missense | SNP | 0.536 | 2 | - | - |
ZNF517 | - | - | - | - | 3 | Gain | - |
ZNF550 | p.R104W | Missense | SNP | 0.463 | 2 | - | - |
ZNF552 | p.Q391R | Missense | SNP | 0.505 | 2 | - | - |
ZNF572 | - | - | - | - | 3 | Gain | - |
ZNF582 | p.T446I | Missense | SNP | 0.464 | 2 | - | - |
ZNF592 | p.S578N | Missense | SNP | 0.479 | 2 | - | - |
ZNF596 | - | - | - | - | 3 | Gain | - |
ZNF623 | - | - | - | - | 3 | Gain | - |
ZNF676 | p.D61H | Missense | SNP | 0.380 | 2 | - | - |
ZNF696 | p.G271S | Missense | SNP | 0.578 | 3 | Gain | - |
ZNF7 | - | - | - | - | 3 | Gain | - |
ZNF703 | - | - | - | - | 3 | Gain | - |
ZNF704 | - | - | - | - | 3 | Gain | - |
ZNF706 | - | - | - | - | 3 | Gain | - |
ZNF707 | - | - | - | - | 3 | Gain | - |
ZNF74 | p.V50L | Missense | SNP | 0.393 | 2 | - | - |
ZNF761 | p.G388C | Missense | SNP | 0.463 | 2 | - | - |
ZNF784 | p.A243T | Missense | SNP | 0.239 | 2 | - | - |
ZNRD1 | p.D84G | Missense | SNP | 0.410 | 2 | - | - |
ZNRF3 | p.L37P p.L297P | Missense Missense | SNP SNP | 0.611 0.459 | 2 | - | - |
ZSCAN10 | p.T641M | Missense | SNP | 0.571 | 2 | - | - |
ZSCAN22 | p.K327T | Missense | SNP | 0.497 | 2 | - | - |