Variant Type | Calling Status |
---|---|
Mutations | Called |
Copy number | Called |
Fusions | Called |
Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
---|---|---|---|---|---|---|---|
AADACL3 | - | - | - | - | 1 | Loss | - |
AADACL4 | - | - | - | - | 1 | Loss | - |
ABCA6 | p.F1531Sfs*14 p.L306Yfs*7 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.975 0.960 | 2 | - | - |
ABCB7 | p.F522L | Missense | SNP | 0.507 | ND | ND | - |
ABHD12 | p.H6Afs*63 | Frame_Shift_Ins | INS | 0.340 | 2 | - | - |
AC073612.1 | - | - | - | - | 3 | Gain | - |
AC092143.1 | - | - | - | - | 3 | Gain | - |
ACAP3 | - | - | - | - | 1 | Loss | - |
ACOT7 | - | - | - | - | 1 | Loss | - |
ACRBP | p.S359L | Missense | SNP | 0.464 | 2 | - | - |
ACSF3 | - | - | - | - | 3 | Gain | - |
ACTG2 | p.R29Pfs*30 | Frame_Shift_Ins | INS | 0.326 | 2 | - | - |
ACTL8 | - | - | - | - | 1 | Loss | - |
ACTRT2 | - | - | - | - | 1 | Loss | - |
ACVR2A | p.K437Rfs*5 | Frame_Shift_Del | DEL | 0.476 | 2 | - | - |
ADAM28 | p.N75Kfs*54 | Frame_Shift_Ins | INS | 0.311 | 2 | - | - |
ADAMTS1 | p.K735R | Missense | SNP | 0.426 | 2 | - | - |
ADAMTS18 | p.K522E | Missense | SNP | 0.445 | 2 | - | - |
ADAMTS2 | p.C1080R | Missense | SNP | 0.570 | 2 | - | - |
ADCY5 | p.R1098W | Missense | SNP | 0.563 | 2 | - | - |
ADCY8 | p.R678Q | Missense | SNP | 0.453 | 2 | - | - |
ADGRL2 | p.C602R | Missense | SNP | 0.429 | 2 | - | - |
ADNP2 | p.A325Cfs*59 | Frame_Shift_Ins | INS | 0.269 | 2 | - | - |
ADSSL1 | p.K291Qfs*16 | Frame_Shift_Ins | INS | 0.260 | 2 | - | - |
AGMAT | - | - | - | - | 1 | Loss | - |
AGRN | - | - | - | - | 1 | Loss | - |
AGTRAP | - | - | - | - | 1 | Loss | - |
AHI1 | p.T304Nfs*6 | Frame_Shift_Ins | INS | 0.287 | 2 | - | - |
AHNAK | p.I1103T | Missense | SNP | 0.485 | 2 | - | - |
AHNAK2 | p.D5274V | Missense | MNP | 0.545 | 2 | - | - |
AJAP1 | - | - | - | - | 1 | Loss | - |
AKAP9 | p.K39Rfs*17 | Frame_Shift_Del | DEL | 0.491 | 2 | - | - |
AKR7A2 | - | - | - | - | 1 | Loss | - |
AKR7A3 | - | - | - | - | 1 | Loss | - |
AKR7L | - | - | - | - | 1 | Loss | - |
AL031847.2 | - | - | - | - | 1 | Loss | - |
AL080251.1 | - | - | - | - | 1 | Loss | - |
AL109811.4 | - | - | - | - | 1 | Loss | - |
ALDH4A1 | - | - | - | - | 1 | Loss | - |
ALPL | - | - | - | - | 1 | Loss | - |
ALS2CR11 | p.Q730Tfs*24 p.D428N | Frame_Shift_Ins Missense | INS SNP | 0.318 0.573 | ND | ND | - |
AMDHD2 | p.R346Qfs*56 | Frame_Shift_Ins | INS | 0.288 | 2 | - | - |
ANGPTL7 | - | - | - | - | 1 | Loss | - |
ANKRD11 | - | - | - | - | 3 | Gain | - |
ANKRD65 | - | - | - | - | 1 | Loss | - |
ANTXR2 | p.L21P | Missense | SNP | 0.489 | 2 | - | - |
APBA1 | p.A99V | Missense | SNP | 0.481 | 2 | - | - |
APC | p.D849Rfs*2 p.R232* | Frame_Shift_Ins Nonsense | INS SNP | 0.362 0.333 | 2 | - | - |
APRT | - | - | - | - | 3 | Gain | - |
ARHGAP28 | p.D197* | Frame_Shift_Ins | INS | 0.306 | 2 | - | - |
ARHGAP35 | p.R972Pfs*40 | Frame_Shift_Ins | INS | 0.320 | 2 | - | - |
ARHGAP40 | p.T470M | Missense | SNP | 0.333 | 2 | - | - |
ARHGAP5 | p.N943Kfs*10 | Frame_Shift_Ins | INS | 0.256 | 2 | - | - |
ARHGEF10L | - | - | - | - | 1 | Loss | - |
ARHGEF16 | - | - | - | - | 1 | Loss | - |
ARHGEF19 | - | - | - | - | 1 | Loss | - |
ARID1A | p.D1850Gfs*4 | Frame_Shift_Ins | INS | 0.467 | 2 | - | - |
ARID4B | p.K493* | Nonsense | SNP | 0.475 | 2 | - | - |
ARL15 | p.V103Gfs*13 | Frame_Shift_Ins | INS | 0.293 | 2 | - | - |
ASB4 | p.T375A | Missense | SNP | 0.527 | 2 | - | - |
ASCC3 | p.G2096* p.E530G | Nonsense Missense | SNP SNP | 0.090 0.578 | 2 | - | - |
ASXL1 | p.G792D | Missense | SNP | 0.494 | 2 | - | - |
ATAD3A | - | - | - | - | 1 | Loss | - |
ATAD3B | - | - | - | - | 1 | Loss | - |
ATAD3C | - | - | - | - | 1 | Loss | - |
ATM | p.K2811Sfs*46 | Frame_Shift_Del | DEL | 0.296 | 2 | - | - |
ATP13A2 | - | - | - | - | 1 | Loss | - |
AURKAIP1 | - | - | - | - | 1 | Loss | - |
B3GALT6 | - | - | - | - | 1 | Loss | - |
BANP | - | - | - | - | 3 | Gain | - |
BAZ1A | p.A74Qfs*12 | Frame_Shift_Del | DEL | 0.549 | 2 | - | - |
BCL9L | p.P449Lfs*14 | Frame_Shift_Del | DEL | 0.392 | 2 | - | - |
BCOR | p.Q1208Tfs*8 | Frame_Shift_Ins | INS | 0.305 | ND | ND | - |
BRWD3 | p.R1447Q | Missense | SNP | 0.489 | ND | ND | - |
C10orf88 | p.N134Ifs*2 | Frame_Shift_Del | DEL | 0.474 | 2 | - | - |
C1GALT1 | - | - | - | - | 3 | Gain | - |
C1orf127 | - | - | - | - | 1 | Loss | - |
C1orf158 | - | - | - | - | 1 | Loss | - |
C1orf159 | - | - | - | - | 1 | Loss | - |
C1orf167 | - | - | - | - | 1 | Loss | - |
C1orf168 | p.E618Rfs*6 | Frame_Shift_Ins | INS | 0.278 | ND | ND | - |
C1orf174 | - | - | - | - | 1 | Loss | - |
C1QTNF12 | - | - | - | - | 1 | Loss | - |
CA5A | - | - | - | - | 3 | Gain | - |
CA6 | - | - | - | - | 1 | Loss | - |
CALML6 | - | - | - | - | 1 | Loss | - |
CAMK2N1 | - | - | - | - | 1 | Loss | - |
CAMTA1 | - | - | - | - | 1 | Loss | - |
CAPZB | - | - | - | - | 1 | Loss | - |
CASP7 | - | - | - | - | 1 | Loss | - |
CASP9 | - | - | - | - | 1 | Loss | - |
CASZ1 | - | - | - | - | 1 | Loss | - |
CBFA2T3 | - | - | - | - | 3 | Gain | - |
CBLN3 | p.S125G | Missense | SNP | 0.420 | 2 | - | - |
CBSL | - | - | - | - | 1 | Loss | - |
CC2D1A | p.R783Afs*28 | Frame_Shift_Ins | INS | 0.265 | 2 | - | - |
CCDC27 | - | - | - | - | 1 | Loss | - |
CCDC77 | p.R411C | Missense | SNP | 0.380 | 2 | - | - |
CCNL2 | - | - | - | - | 1 | Loss | - |
CCZ1B | - | - | - | - | 3 | Gain | - |
CDA | - | - | - | - | 1 | Loss | - |
CDCP1 | p.K474T | Missense | SNP | 0.521 | 2 | - | - |
CDH1 | p.E739G | Missense | SNP | 0.489 | 2 | - | - |
CDH15 | - | - | - | - | 3 | Gain | - |
CDK10 | - | - | - | - | 3 | Gain | - |
CDK11A | - | - | - | - | 1 | Loss | - |
CDK11B | - | - | - | - | 1 | Loss | - |
CDKN2D | p.N101S | Missense | SNP | 0.471 | 2 | - | - |
CDT1 | - | - | - | - | 3 | Gain | - |
CEBPB | p.A60Rfs*181 | Frame_Shift_Ins | INS | 0.301 | 2 | - | - |
CELA2A | - | - | - | - | 1 | Loss | - |
CELA2B | - | - | - | - | 1 | Loss | - |
CENPBD1 | - | - | - | - | 3 | Gain | - |
CENPE | p.I1996Lfs*7 | Frame_Shift_Del | DEL | 0.422 | 2 | - | - |
CENPS-CORT | - | - | - | - | 1 | Loss | - |
CEP104 | - | - | - | - | 1 | Loss | - |
CEP83 | - | - | - | - | 1 | Loss | - |
CFAP74 | - | - | - | - | 1 | Loss | - |
CFHR2 | p.R85G | Missense | SNP | 0.389 | 2 | - | - |
CHAT | p.D316G | Missense | SNP | 0.378 | 2 | - | - |
CHD5 | - | - | - | - | 1 | Loss | - |
CHM | p.S629R | Missense | SNP | 0.367 | ND | ND | - |
CHMP1A | - | - | - | - | 3 | Gain | - |
CHRNA7 | p.Q51* | Nonsense | SNP | 0.486 | 2 | - | - |
CIITA | p.X314_splice | Splice_Site | SNP | 0.468 | 2 | - | - |
CLCN6 | - | - | - | - | 1 | Loss | - |
CLCNKA | - | - | - | - | 1 | Loss | - |
CLCNKB | - | - | - | - | 1 | Loss | - |
CLSTN1 | - | - | - | - | 1 | Loss | - |
COL22A1 | - | - | - | - | 1 | Loss | - |
COLGALT2 | p.K158Nfs*9 | Frame_Shift_Del | DEL | 0.483 | 2 | - | - |
CORT | - | - | - | - | 1 | Loss | - |
CPLANE2 | - | - | - | - | 1 | Loss | - |
CPNE2 | p.A74T | Missense | SNP | 0.411 | 2 | - | - |
CPNE7 | - | - | - | - | 3 | Gain | - |
CPTP | - | - | - | - | 1 | Loss | - |
CPXCR1 | p.C218Sfs*16 | Frame_Shift_Del | DEL | 0.494 | ND | ND | - |
CROCC | - | - | - | - | 1 | Loss | - |
CROT | p.F86I | Missense | SNP | 0.625 | 2 | - | - |
CRYAA2 | - | - | - | - | 1 | Loss | - |
CTNNBIP1 | - | - | - | - | 1 | Loss | - |
CTRC | - | - | - | - | 1 | Loss | - |
CYBA | - | - | - | - | 3 | Gain | - |
CYFIP1 | p.S643P | Missense | SNP | 0.408 | 2 | - | - |
DAB1 | p.I116T | Missense | SNP | 0.450 | 2 | - | - |
DBNDD1 | - | - | - | - | 3 | Gain | - |
DCAF12L1 | p.R408G | Missense | SNP | 0.557 | ND | ND | - |
DDI2 | - | - | - | - | 1 | Loss | - |
DDOST | - | - | - | - | 1 | Loss | - |
DEF8 | - | - | - | - | 3 | Gain | - |
DENND4A | p.G977Rfs*3 | Frame_Shift_Ins | INS | 0.333 | 2 | - | - |
DFFA | - | - | - | - | 1 | Loss | - |
DFFB | - | - | - | - | 1 | Loss | - |
DHRS3 | - | - | - | - | 1 | Loss | - |
DHX8 | p.H32Afs*42 | Frame_Shift_Ins | INS | 0.493 | 2 | - | - |
DIP2A | p.S1145Pfs*18 | Frame_Shift_Del | DEL | 0.394 | 2 | - | - |
DIP2C | p.R86C | Missense | SNP | 0.259 | 2 | - | - |
DISP3 | - | - | - | - | 1 | Loss | - |
DNAJC11 | - | - | - | - | 1 | Loss | - |
DNAJC16 | - | - | - | - | 1 | Loss | - |
DPEP1 | - | - | - | - | 3 | Gain | - |
DRAXIN | - | - | - | - | 1 | Loss | - |
DVL1 | - | - | - | - | 1 | Loss | - |
ECE1 | - | - | - | - | 1 | Loss | - |
EFHD2 | - | - | - | - | 1 | Loss | - |
EHMT2 | p.V949M | Missense | SNP | 0.463 | 2 | - | - |
EIF4G3 | - | - | - | - | 1 | Loss | - |
EMC1 | - | - | - | - | 1 | Loss | - |
ENDOU | p.N107I | Missense | SNP | 0.505 | 2 | - | - |
ENO1 | - | - | - | - | 1 | Loss | - |
EPHA2 | - | - | - | - | 1 | Loss | - |
EPM2AIP1 | p.A367T | Missense | SNP | 0.341 | 2 | - | - |
EPN2 | p.T470Qfs*5 p.P231L | Frame_Shift_Del Missense | DEL SNP | 0.581 0.405 | 2 | - | - |
ERBB2 | p.G776V | Missense | SNP | 1.000 | 2 | - | - |
ERBB3 | p.E928G | Missense | SNP | 0.494 | 2 | - | - |
ERRFI1 | - | - | - | - | 1 | Loss | - |
ESPN | - | - | - | - | 1 | Loss | - |
EVI5 | - | - | - | - | 1 | Loss | - |
EXOSC10 | - | - | - | - | 1 | Loss | - |
F8 | p.N1460Kfs*2 | Frame_Shift_Ins | INS | 0.264 | ND | ND | - |
FAAP20 | - | - | - | - | 1 | Loss | - |
FAM104A | p.Q90Pfs*6 | Frame_Shift_Ins | INS | 0.482 | 2 | - | - |
FAM131C | - | - | - | - | 1 | Loss | - |
FAM135A | p.M426T | Missense | SNP | 0.338 | 2 | - | - |
FAM135B | - | - | - | - | 1 | Loss | - |
FAM196A | p.R246G | Missense | SNP | 0.488 | ND | ND | - |
FAM243B | - | - | - | - | 1 | Loss | - |
FAM43B | - | - | - | - | 1 | Loss | - |
FAM81B | p.S18T | Missense | SNP | 0.475 | 2 | - | - |
FANCA | - | - | - | - | 3 | Gain | - |
FAT3 | p.T3619M | Missense | SNP | 0.459 | 2 | - | - |
FAT4 | p.A3494D | Missense | SNP | 0.398 | 2 | - | - |
FBLIM1 | - | - | - | - | 1 | Loss | - |
FBXO2 | - | - | - | - | 1 | Loss | - |
FBXO31 | - | - | - | - | 3 | Gain | - |
FBXO42 | - | - | - | - | 1 | Loss | - |
FBXO44 | - | - | - | - | 1 | Loss | - |
FBXO45 | p.Y124C | Missense | SNP | 0.496 | 2 | - | - |
FBXO6 | - | - | - | - | 1 | Loss | - |
FBXW5 | p.V546D | Missense | SNP | 0.522 | 2 | - | - |
FCN1 | - | - | - | - | 1 | Loss | - |
FCN2 | - | - | - | - | 1 | Loss | - |
FER1L5 | p.D1747N | Missense | SNP | 0.483 | 2 | - | - |
FHAD1 | - | - | - | - | 1 | Loss | - |
FILIP1 | p.T1011M | Missense | SNP | 0.478 | 2 | - | - |
FILIP1L | p.L750Tfs*16 | Frame_Shift_Ins | INS | 0.322 | 2 | - | - |
FMR1 | p.H355Tfs*15 | Frame_Shift_Ins | INS | 0.176 | ND | ND | - |
FNDC10 | - | - | - | - | 1 | Loss | - |
FOXL1 | p.R158H | Missense | SNP | 0.466 | 2 | - | - |
FP565260.1 | - | - | - | - | 1 | Loss | - |
FP565260.2 | - | - | - | - | 1 | Loss | - |
FP565260.3 | - | - | - | - | 1 | Loss | - |
FP565260.4 | - | - | - | - | 1 | Loss | - |
FP565260.6 | - | - | - | - | 1 | Loss | - |
FPGT-TNNI3K | p.Y85C | Missense | SNP | 0.544 | 2 | - | - |
FSIP2 | p.S5488Ffs*16 p.V2642A | Frame_Shift_Ins Missense | INS SNP | 0.338 0.250 | 2 | - | - |
FTSJ1 | p.Y262H | Missense | SNP | 0.421 | ND | ND | - |
GABRD | - | - | - | - | 1 | Loss | - |
GALNS | - | - | - | - | 3 | Gain | - |
GAS7 | p.M1? | Frame_Shift_Del | DEL | 0.624 | 2 | - | - |
GAS8 | - | - | - | - | 3 | Gain | - |
GATA6 | p.X435_splice | Splice_Site | SNP | 0.370 | 2 | - | - |
GATD3B | - | - | - | - | 1 | Loss | - |
GBP6 | p.K110R | Missense | SNP | 0.189 | 2 | - | - |
GCN1 | - | - | - | - | 1 | Loss | - |
GFI1 | - | - | - | - | 1 | Loss | - |
GGTLC3 | - | - | - | - | 3 | Gain | - |
GLG1 | - | - | - | - | 1 | Loss | - |
GLMN | - | - | - | - | 1 | Loss | - |
GNAS | - | - | - | - | 1 | Loss | - |
GNB1 | - | - | - | - | 1 | Loss | - |
GNL3 | p.A336G | Missense | SNP | 0.447 | 2 | - | - |
GPCPD1 | p.T221A | Missense | SNP | 0.418 | 2 | - | - |
GPR153 | - | - | - | - | 1 | Loss | - |
GPR157 | - | - | - | - | 1 | Loss | - |
GPRC5C | p.G366D | Missense | SNP | 0.103 | 2 | - | - |
GPSM2 | p.M8T | Missense | SNP | 0.280 | 2 | - | - |
GRIA3 | p.I844M | Missense | SNP | 0.436 | ND | ND | - |
GRIN1 | p.N99Tfs*23 | Frame_Shift_Del | DEL | 0.390 | 2 | - | - |
GRPR | p.C113Y | Missense | SNP | 0.354 | ND | ND | - |
GTF3C1 | p.F1755Lfs*50 | Frame_Shift_Del | DEL | 0.483 | 1 | Loss | - |
H2BFS | - | - | - | - | 1 | Loss | - |
H6PD | - | - | - | - | 1 | Loss | - |
HABP2 | - | - | - | - | 1 | Loss | - |
HBQ1 | p.Q61R | Missense | SNP | 0.479 | 2 | - | - |
HCN4 | p.A1014Lfs*4 | Frame_Shift_Del | DEL | 0.575 | 2 | - | - |
HES2 | - | - | - | - | 1 | Loss | - |
HES3 | - | - | - | - | 1 | Loss | - |
HES4 | - | - | - | - | 1 | Loss | - |
HES5 | - | - | - | - | 1 | Loss | - |
HNRNPCL1 | - | - | - | - | 1 | Loss | - |
HNRNPCL2 | - | - | - | - | 1 | Loss | - |
HNRNPCL3 | - | - | - | - | 1 | Loss | - |
HNRNPCL4 | - | - | - | - | 1 | Loss | - |
HOXA5 | p.A153T | Missense | SNP | 0.488 | 2 | - | - |
HP1BP3 | - | - | - | - | 1 | Loss | - |
HSD17B3 | p.A283V | Missense | SNP | 0.476 | 2 | - | - |
HSPB7 | - | - | - | - | 1 | Loss | - |
HSPG2 | - | - | - | - | 1 | Loss | - |
HTR6 | - | - | - | - | 1 | Loss | - |
HYOU1 | p.Y497H | Missense | SNP | 0.525 | 2 | - | - |
IARS2 | p.G509D | Missense | SNP | 0.542 | 2 | - | - |
ICMT | - | - | - | - | 1 | Loss | - |
IFFO2 | - | - | - | - | 1 | Loss | - |
IGSF21 | - | - | - | - | 1 | Loss | - |
IGSF8 | p.G161Rfs*18 | Frame_Shift_Ins | INS | 0.281 | 2 | - | - |
IL17C | - | - | - | - | 3 | Gain | - |
IL21R | - | - | - | - | 1 | Loss | - |
IL27RA | p.V368A | Missense | SNP | 0.613 | 2 | - | - |
IL4R | - | - | - | - | 1 | Loss | - |
INTS11 | - | - | - | - | 1 | Loss | - |
IQSEC2 | p.P533S | Missense | SNP | 0.439 | ND | ND | - |
ISG15 | - | - | - | - | 1 | Loss | - |
ITGAE | p.L601Pfs*8 | Frame_Shift_Ins | INS | 0.339 | 2 | - | - |
ITIH6 | p.P1129L | Missense | SNP | 0.421 | ND | ND | - |
IVNS1ABP | p.F562Yfs*26 | Frame_Shift_Del | DEL | 0.106 | 2 | - | - |
IYD | - | - | - | - | 1 | Loss | - |
JARID2 | p.A396Gfs*25 p.R425Afs*99 | Frame_Shift_Ins Frame_Shift_Ins | INS INS | 0.322 0.181 | 2 | - | - |
JPH3 | - | - | - | - | 3 | Gain | - |
KAZN | - | - | - | - | 1 | Loss | - |
KCNAB2 | - | - | - | - | 1 | Loss | - |
KCNB1 | p.K776Qfs*23 | Frame_Shift_Ins | INS | 0.295 | 2 | - | - |
KCNC1 | p.R33W | Missense | SNP | 0.511 | 2 | - | - |
KCNN1 | p.P28H | Missense | SNP | 0.571 | 2 | - | - |
KHDRBS3 | - | - | - | - | 1 | Loss | - |
KIAA0232 | p.A461S | Missense | SNP | 0.436 | 2 | - | - |
KIAA0556 | - | - | - | - | 1 | Loss | - |
KIAA1468 | p.E819G | Missense | SNP | 0.463 | ND | ND | - |
KIAA1671 | p.F1028Lfs*40 | Frame_Shift_Del | DEL | 0.347 | 2 | - | - |
KIAA2013 | - | - | - | - | 1 | Loss | - |
KIF17 | - | - | - | - | 1 | Loss | - |
KIF1B | - | - | - | - | 1 | Loss | - |
KIF1BP | p.I506Nfs*3 | Frame_Shift_Ins | INS | 0.465 | 2 | - | - |
KIF21A | p.K129Nfs*3 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
KLHDC4 | - | - | - | - | 3 | Gain | - |
KLHDC7A | - | - | - | - | 1 | Loss | - |
KLHL17 | - | - | - | - | 1 | Loss | - |
KLHL21 | - | - | - | - | 1 | Loss | - |
KMT2B | p.K553Qfs*46 | Frame_Shift_Ins | INS | 0.288 | 2 | - | - |
KMT2C | p.R2066* | Nonsense | SNP | 0.532 | 2 | - | - |
KMT2D | p.Q3919dup | In_Frame_Ins | INS | 0.254 | 2 | - | - |
KYNU | p.R15H | Missense | SNP | 0.532 | 2 | - | - |
LAMC2 | p.V643A | Missense | SNP | 0.356 | 2 | - | - |
LDLRAD2 | - | - | - | - | 1 | Loss | - |
LILRA6 | p.R205Gfs*24 | Frame_Shift_Del | DEL | 0.158 | 2 | - | - |
LONP2 | p.R759W | Missense | SNP | 0.400 | 2 | - | - |
LONRF1 | p.R742Q | Missense | SNP | 0.372 | 2 | - | - |
LRFN4 | p.L227Pfs*6 | Frame_Shift_Ins | INS | 0.321 | 2 | - | - |
LRP1 | p.D4193Rfs*9 | Frame_Shift_Ins | INS | 0.286 | 2 | - | - |
LRRC3 | p.A99T | Missense | SNP | 0.494 | 2 | - | - |
LRRC38 | - | - | - | - | 1 | Loss | - |
LRRC47 | - | - | - | - | 1 | Loss | - |
LURAP1 | p.R13Q | Missense | SNP | 0.364 | 2 | - | - |
LUZP1 | p.R509* | Nonsense | SNP | 0.486 | 2 | - | - |
LZIC | - | - | - | - | 1 | Loss | - |
MAD2L2 | - | - | - | - | 1 | Loss | - |
MAP1B | p.T1503A | Missense | SNP | 0.492 | 2 | - | - |
MAP1LC3B | - | - | - | - | 3 | Gain | - |
MASP2 | - | - | - | - | 1 | Loss | - |
MAST4 | p.H880R | Missense | SNP | 0.400 | 2 | - | - |
MBL2 | p.G71A | Missense | SNP | 0.475 | 2 | - | - |
MC1R | - | - | - | - | 3 | Gain | - |
MCAM | p.R459Gfs*23 | Frame_Shift_Del | DEL | 0.469 | 2 | - | - |
MCF2L2 | p.V383G | Missense | SNP | 0.514 | 2 | - | - |
MDGA2 | p.N376Kfs*9 | Frame_Shift_Ins | INS | 0.290 | 2 | - | - |
MED12 | p.L624I | Missense | SNP | 0.467 | ND | ND | - |
MEGF6 | - | - | - | - | 1 | Loss | - |
MEIOC | p.D880G | Missense | SNP | 0.412 | 2 | - | - |
METTL7A | p.L212R | Missense | SNP | 0.108 | 2 | - | - |
MFAP2 | - | - | - | - | 1 | Loss | - |
MFN2 | - | - | - | - | 1 | Loss | - |
MIB2 | - | - | - | - | 1 | Loss | - |
MIIP | - | - | - | - | 1 | Loss | - |
MINOS1 | - | - | - | - | 1 | Loss | - |
MINOS1-NBL1 | - | - | - | - | 1 | Loss | - |
MLIP | p.E480Gfs*6 | Frame_Shift_Ins | INS | 0.350 | 2 | - | - |
MMEL1 | - | - | - | - | 1 | Loss | - |
MMP23B | - | - | - | - | 1 | Loss | - |
MORN1 | - | - | - | - | 1 | Loss | - |
MRPL20 | - | - | - | - | 1 | Loss | - |
MRTO4 | - | - | - | - | 1 | Loss | - |
MSH6 | p.N404T | Missense | SNP | 0.530 | 2 | - | - |
MSRA | p.K235Nfs*14 | Frame_Shift_Del | DEL | 0.431 | 2 | - | - |
MTHFR | - | - | - | - | 1 | Loss | - |
MTOR | - | - | - | - | 1 | Loss | - |
MUC5B | p.R5131H | Missense | SNP | 0.472 | 2 | - | - |
MUL1 | - | - | - | - | 1 | Loss | - |
MVD | - | - | - | - | 3 | Gain | - |
MXRA8 | - | - | - | - | 1 | Loss | - |
MYB | p.N715Kfs*12 | Frame_Shift_Ins | INS | 0.331 | 2 | - | - |
MYH1 | p.R1845H | Missense | SNP | 0.596 | 2 | - | - |
MYLK | p.S1015R | Missense | SNP | 0.483 | 2 | - | - |
MYO15A | p.K613T | Missense | SNP | 0.525 | 2 | - | - |
MYO1A | p.L500R | Missense | SNP | 0.482 | 2 | - | - |
N4BP2 | p.Y711Ifs*45 | Frame_Shift_Del | DEL | 0.141 | 2 | - | - |
NAA16 | p.E630D | Missense | SNP | 0.543 | 2 | - | - |
NADK | - | - | - | - | 1 | Loss | - |
NAV3 | p.P1741L p.L2294I | Missense Missense | SNP SNP | 0.255 0.067 | 2 | - | - |
NBL1 | - | - | - | - | 1 | Loss | - |
NBPF1 | - | - | - | - | 1 | Loss | - |
NBPF3 | - | - | - | - | 1 | Loss | - |
NCAPD3 | p.X490_splice p.R207Q | Splice_Site Missense | SNP SNP | 0.536 0.406 | 2 | - | - |
NCOR2 | p.R986Pfs*76 | Frame_Shift_Ins | INS | 0.281 | 2 | - | - |
NDST4 | p.T605Nfs*22 | Frame_Shift_Ins | INS | 0.086 | 2 | - | - |
NECAP2 | - | - | - | - | 1 | Loss | - |
NELFCD | - | - | - | - | 1 | Loss | - |
NFATC3 | p.S690Kfs*22 | Frame_Shift_Ins | INS | 0.360 | 2 | - | - |
NFE2 | p.S90P | Missense | SNP | 0.376 | 2 | - | - |
NHSL1 | p.T97R | Missense | SNP | 0.416 | 2 | - | - |
NMNAT1 | - | - | - | - | 1 | Loss | - |
NOC2L | - | - | - | - | 1 | Loss | - |
NOL9 | - | - | - | - | 1 | Loss | - |
NOS3 | p.C441Lfs*57 | Frame_Shift_Ins | INS | 0.292 | 2 | - | - |
NPHP4 | - | - | - | - | 1 | Loss | - |
NPPA | - | - | - | - | 1 | Loss | - |
NPPB | - | - | - | - | 1 | Loss | - |
NPR1 | p.L23P | Missense | SNP | 0.475 | 2 | - | - |
NRAP | - | - | - | - | 1 | Loss | - |
NRARP | p.S58P | Missense | SNP | 0.412 | 2 | - | - |
NSMCE1 | - | - | - | - | 1 | Loss | - |
NUP188 | p.L253P | Missense | SNP | 0.500 | 2 | - | - |
OBSCN | p.E3977A | Missense | SNP | 0.533 | 2 | - | - |
OLFM1 | - | - | - | - | 1 | Loss | - |
OR10R2 | p.T295M | Missense | SNP | 0.491 | 2 | - | - |
OR1D2 | p.T167A | Missense | SNP | 0.523 | 2 | - | - |
OR51S1 | p.G226S | Missense | SNP | 0.495 | 2 | - | - |
OR8D4 | p.F104Sfs*48 | Frame_Shift_Del | DEL | 0.483 | 2 | - | - |
ORC3 | p.R368H | Missense | SNP | 0.462 | 2 | - | - |
OSBPL1A | p.N793Mfs*15 | Frame_Shift_Del | DEL | 0.480 | 2 | - | - |
OSBPL7 | p.D729Rfs*3 | Frame_Shift_Ins | INS | 0.244 | 2 | - | - |
OTUD3 | - | - | - | - | 1 | Loss | - |
PABPN1L | - | - | - | - | 3 | Gain | - |
PADI1 | - | - | - | - | 1 | Loss | - |
PADI2 | - | - | - | - | 1 | Loss | - |
PADI3 | - | - | - | - | 1 | Loss | - |
PADI4 | - | - | - | - | 1 | Loss | - |
PADI6 | - | - | - | - | 1 | Loss | - |
PAK4 | p.R96H | Missense | SNP | 0.108 | 2 | - | - |
PANK4 | - | - | - | - | 1 | Loss | - |
PARK2 | p.V330Rfs*17 | Frame_Shift_Ins | INS | 0.287 | ND | ND | - |
PARK7 | - | - | - | - | 1 | Loss | - |
PAX7 | - | - | - | - | 1 | Loss | - |
PAX9 | p.Y286C | Missense | SNP | 0.515 | 2 | - | - |
PAXBP1 | p.A825Pfs*4 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
PBXIP1 | - | - | - | - | 1 | Loss | - |
PCDHA5 | p.F462S | Missense | SNP | 0.511 | 2 | - | - |
PCDHB9 | p.V722A | Missense | SNP | 0.482 | 2 | - | - |
PDE4B | p.R581H | Missense | SNP | 0.590 | 2 | - | - |
PDE6B | - | - | - | - | 1 | Loss | - |
PDGFRB | p.R641H | Missense | SNP | 0.442 | 2 | - | - |
PDPN | - | - | - | - | 1 | Loss | - |
PER3 | - | - | - | - | 1 | Loss | - |
PERM1 | - | - | - | - | 1 | Loss | - |
PEX10 | - | - | - | - | 1 | Loss | - |
PEX14 | - | - | - | - | 1 | Loss | - |
PGC | p.R30S | Missense | SNP | 0.414 | 2 | - | - |
PGD | - | - | - | - | 1 | Loss | - |
PHACTR2 | p.T240Nfs*5 | Frame_Shift_Ins | INS | 0.373 | 2 | - | - |
PHF13 | - | - | - | - | 1 | Loss | - |
PHKB | p.A601V | Missense | SNP | 0.278 | 2 | - | - |
PHTF2 | p.L536Ffs*10 | Frame_Shift_Ins | INS | 0.273 | 2 | - | - |
PIK3CA | p.H1047R | Missense | SNP | 0.367 | 2 | - | - |
PIK3CD | - | - | - | - | 1 | Loss | - |
PILRB | p.I63T p.V64A | Missense Missense | SNP SNP | 0.286 0.306 | 2 | - | - |
PINK1 | - | - | - | - | 1 | Loss | - |
PKD1 | - | - | - | - | 1 | Loss | - |
PLA2G2A | - | - | - | - | 1 | Loss | - |
PLA2G2C | - | - | - | - | 1 | Loss | - |
PLA2G2D | - | - | - | - | 1 | Loss | - |
PLA2G2E | - | - | - | - | 1 | Loss | - |
PLA2G2F | - | - | - | - | 1 | Loss | - |
PLA2G4D | p.P731L | Missense | SNP | 0.451 | 2 | - | - |
PLA2G5 | - | - | - | - | 1 | Loss | - |
PLCH2 | - | - | - | - | 1 | Loss | - |
PLEKHG1 | - | - | - | - | 1 | Loss | - |
PLEKHG5 | - | - | - | - | 1 | Loss | - |
PLEKHM1 | p.S956F | Missense | SNP | 1.000 | 2 | - | - |
PLEKHM2 | - | - | - | - | 1 | Loss | - |
PLEKHN1 | - | - | - | - | 1 | Loss | - |
PLOD1 | - | - | - | - | 1 | Loss | - |
PLPPR4 | p.S523P | Missense | SNP | 0.480 | 2 | - | - |
PLXNA2 | p.H465Pfs*27 | Frame_Shift_Ins | INS | 0.351 | 2 | - | - |
PLXNA3 | p.A17Pfs*12 | Frame_Shift_Del | DEL | 0.456 | ND | ND | - |
PLXNC1 | - | - | - | - | 1 | Loss | - |
PMVK | - | - | - | - | 1 | Loss | - |
PNMAL2 | p.E440K | Missense | SNP | 0.141 | ND | ND | - |
POLQ | p.L1430* | Nonsense | SNP | 0.516 | 2 | - | - |
PPFIA2 | p.N111S | Missense | SNP | 0.447 | 2 | - | - |
PPWD1 | p.R390W | Missense | SNP | 0.382 | 2 | - | - |
PQLC2 | - | - | - | - | 1 | Loss | - |
PRAMEF1 | - | - | - | - | 1 | Loss | - |
PRAMEF10 | - | - | - | - | 1 | Loss | - |
PRAMEF11 | - | - | - | - | 1 | Loss | - |
PRAMEF12 | - | - | - | - | 1 | Loss | - |
PRAMEF13 | - | - | - | - | 1 | Loss | - |
PRAMEF14 | - | - | - | - | 1 | Loss | - |
PRAMEF17 | - | - | - | - | 1 | Loss | - |
PRAMEF18 | - | - | - | - | 1 | Loss | - |
PRAMEF19 | - | - | - | - | 1 | Loss | - |
PRAMEF2 | - | - | - | - | 1 | Loss | - |
PRAMEF20 | - | - | - | - | 1 | Loss | - |
PRAMEF27 | - | - | - | - | 1 | Loss | - |
PRAMEF33 | - | - | - | - | 1 | Loss | - |
PRAMEF4 | - | - | - | - | 1 | Loss | - |
PRAMEF5 | - | - | - | - | 1 | Loss | - |
PRAMEF6 | - | - | - | - | 1 | Loss | - |
PRAMEF7 | - | - | - | - | 1 | Loss | - |
PRAMEF8 | - | - | - | - | 1 | Loss | - |
PRDM16 | - | - | - | - | 1 | Loss | - |
PRDM2 | - | - | - | - | 1 | Loss | - |
PRDM7 | - | - | - | - | 3 | Gain | - |
PREX1 | p.L1659F | Missense | SNP | 0.374 | 2 | - | - |
PRKAR1B | p.Y185C | Missense | SNP | 0.093 | 2 | - | - |
PRKCZ | - | - | - | - | 1 | Loss | - |
PRR12 | p.Q800Pfs*26 | Frame_Shift_Ins | INS | 0.248 | 2 | - | - |
PRXL2B | - | - | - | - | 1 | Loss | - |
PTPN3 | p.R355W | Missense | SNP | 0.504 | 2 | - | - |
PUSL1 | - | - | - | - | 1 | Loss | - |
PYGO2 | - | - | - | - | 1 | Loss | - |
RAB21 | - | - | - | - | 3 | Gain | - |
RADIL | p.G882Wfs*32 | Frame_Shift_Ins | INS | 0.298 | 2 | - | - |
RAP1GAP | - | - | - | - | 1 | Loss | - |
RASAL2 | p.D390Gfs*4 | Frame_Shift_Ins | INS | 0.267 | 2 | - | - |
RBM17 | p.A282T | Missense | SNP | 0.535 | 2 | - | - |
RBM20 | p.I1090Hfs*4 | Frame_Shift_Ins | INS | 0.280 | 2 | - | - |
RBM27 | p.Q817Tfs*63 | Frame_Shift_Ins | INS | 0.316 | 2 | - | - |
RBM42 | p.A254V | Missense | SNP | 0.369 | 2 | - | - |
RBP7 | - | - | - | - | 1 | Loss | - |
RCC2 | - | - | - | - | 1 | Loss | - |
RECQL4 | p.T858A | Missense | SNP | 0.476 | 2 | - | - |
RELN | p.P520L | Missense | SNP | 0.604 | 2 | - | - |
RER1 | - | - | - | - | 1 | Loss | - |
RERE | - | - | - | - | 1 | Loss | - |
REXO1 | p.Y1173Ifs*179 | Frame_Shift_Ins | INS | 0.270 | 2 | - | - |
RGS12 | p.Q1292Rfs*49 | Frame_Shift_Del | DEL | 0.478 | 2 | - | - |
RIMBP3 | - | - | - | - | 3 | Gain | - |
RN7SKP48 | - | - | - | - | ND | ND | RN7SKP71--RN7SKP48 |
RN7SKP62 | - | - | - | - | ND | ND | RN7SKP80--RN7SKP62 |
RN7SKP71 | - | - | - | - | ND | ND | RN7SKP71--RN7SKP48 |
RN7SKP80 | - | - | - | - | ND | ND | RN7SKP80--RN7SKP62 |
RNF141 | p.T9A | Missense | SNP | 0.435 | 2 | - | - |
RNF166 | - | - | - | - | 3 | Gain | - |
RNF186 | - | - | - | - | 1 | Loss | - |
RNF207 | - | - | - | - | 1 | Loss | - |
RNF223 | - | - | - | - | 1 | Loss | - |
ROS1 | p.Y363Lfs*25 | Frame_Shift_Ins | INS | 0.330 | 2 | - | - |
RP1 | p.P153Hfs*4 | Frame_Shift_Del | DEL | 0.469 | 2 | - | - |
RPAP2 | - | - | - | - | 1 | Loss | - |
RPE65 | p.R296Gfs*29 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
RPL13 | - | - | - | - | 3 | Gain | - |
RPL22 | - | - | - | - | 1 | Loss | - |
RPLP0 | - | - | - | - | 1 | Loss | - |
RSC1A1 | - | - | - | - | 1 | Loss | - |
RSPH10B2 | - | - | - | - | 3 | Gain | - |
SACS | p.K1717Nfs*8 | Frame_Shift_Del | DEL | 0.598 | 2 | - | - |
SAMD11 | - | - | - | - | 1 | Loss | - |
SATB1 | p.Q639dup | In_Frame_Ins | INS | 0.278 | 2 | - | - |
SCAF1 | p.E729G | Missense | SNP | 0.400 | 2 | - | - |
SCN10A | p.T709Yfs*3 | Frame_Shift_Ins | INS | 0.340 | 2 | - | - |
SCNN1D | - | - | - | - | 1 | Loss | - |
SCNN1G | p.S302Qfs*27 | Frame_Shift_Ins | INS | 0.276 | 2 | - | - |
SDF4 | - | - | - | - | 1 | Loss | - |
SDHB | - | - | - | - | 1 | Loss | - |
SEC14L5 | p.I435F | Missense | SNP | 0.547 | 2 | - | - |
SEC31B | p.A700E | Missense | SNP | 0.556 | 2 | - | - |
SH2D5 | - | - | - | - | 1 | Loss | - |
SHANK3 | p.T1606Pfs*24 | Frame_Shift_Del | DEL | 0.478 | 2 | - | - |
SHC1 | - | - | - | - | 1 | Loss | - |
SHOC2 | p.L333P | Missense | SNP | 0.389 | 2 | - | - |
SIK1B | - | - | - | - | 1 | Loss | - |
SKI | - | - | - | - | 1 | Loss | - |
SLC16A1 | p.D15Rfs*34 | Frame_Shift_Ins | INS | 0.326 | 2 | - | - |
SLC16A7 | p.F347Lfs*53 | Frame_Shift_Del | DEL | 0.466 | 2 | - | - |
SLC22A31 | - | - | - | - | 3 | Gain | - |
SLC25A33 | - | - | - | - | 1 | Loss | - |
SLC25A34 | - | - | - | - | 1 | Loss | - |
SLC2A5 | - | - | - | - | 1 | Loss | - |
SLC2A7 | p.Y380C | Missense | SNP | 0.679 | 1 | Loss | - |
SLC35E2A | - | - | - | - | 1 | Loss | - |
SLC35E2B | - | - | - | - | 1 | Loss | - |
SLC45A1 | - | - | - | - | 1 | Loss | - |
SLC5A8 | p.A35T | Missense | SNP | 0.469 | 2 | - | - |
SLC7A5 | - | - | - | - | 3 | Gain | - |
SLCO3A1 | p.A573T | Missense | SNP | 0.410 | 2 | - | - |
SMARCA4 | p.E365G | Missense | SNP | 0.539 | 2 | - | - |
SMARCC2 | p.G1044Lfs*18 | Frame_Shift_Ins | INS | 0.210 | 2 | - | - |
SMC2 | p.N337Ifs*9 | Frame_Shift_Del | DEL | 0.056 | 2 | - | - |
SMIM1 | - | - | - | - | 1 | Loss | - |
SMIM11B | - | - | - | - | 1 | Loss | - |
SMPDL3B | p.R17G | Missense | SNP | 0.429 | 2 | - | - |
SNAI3 | - | - | - | - | 3 | Gain | - |
SNED1 | p.R1341H | Missense | SNP | 0.374 | 2 | - | - |
SOX9 | p.H169R | Missense | SNP | 1.000 | 2 | - | - |
SPATA21 | - | - | - | - | 1 | Loss | - |
SPATA2L | - | - | - | - | 3 | Gain | - |
SPATA33 | - | - | - | - | 3 | Gain | - |
SPEG | p.S1915Vfs*324 p.R1617H | Frame_Shift_Del Missense | DEL SNP | 0.457 0.360 | 2 | - | - |
SPEN | - | - | - | - | 1 | Loss | - |
SPG21 | p.L191S | Missense | SNP | 0.347 | 2 | - | - |
SPG7 | - | - | - | - | 3 | Gain | - |
SPIRE2 | - | - | - | - | 3 | Gain | - |
SPSB1 | - | - | - | - | 1 | Loss | - |
SRA1 | - | - | - | - | 3 | Gain | - |
SRARP | - | - | - | - | 1 | Loss | - |
SRFBP1 | p.N236Kfs*5 | Frame_Shift_Ins | INS | 0.282 | 2 | - | - |
SRM | - | - | - | - | 1 | Loss | - |
SRMS | p.L9R | Missense | SNP | 0.421 | 2 | - | - |
SRPX2 | p.Y26F p.A124T | Missense Missense | SNP SNP | 0.643 0.379 | ND | ND | - |
SSU72 | - | - | - | - | 1 | Loss | - |
ST8SIA6 | p.A252Pfs*53 | Frame_Shift_Del | DEL | 0.361 | 2 | - | - |
STAB1 | p.G134E | Missense | SNP | 0.536 | 2 | - | - |
SYNM | p.V459I | Missense | SNP | 0.429 | 2 | - | - |
SYNPO2 | p.K752E | Missense | SNP | 0.436 | 2 | - | - |
SYVN1 | p.R535Pfs*10 | Frame_Shift_Ins | INS | 0.299 | 2 | - | - |
TAF1 | p.R122Q | Missense | SNP | 0.463 | ND | ND | - |
TAF4B | p.A599P | Missense | SNP | 0.500 | 2 | - | - |
TARDBP | - | - | - | - | 1 | Loss | - |
TAS1R1 | - | - | - | - | 1 | Loss | - |
TAS1R2 | - | - | - | - | 1 | Loss | - |
TAS1R3 | - | - | - | - | 1 | Loss | - |
TCF25 | - | - | - | - | 3 | Gain | - |
TEX41 | . | Splice_Site | SNP | 0.455 | ND | ND | - |
TGIF2LX | p.L159Pfs*22 | Frame_Shift_Ins | INS | 0.322 | ND | ND | - |
THAP2 | - | - | - | - | 3 | Gain | - |
THAP3 | - | - | - | - | 1 | Loss | - |
TICAM1 | p.P643Tfs*123 | Frame_Shift_Ins | INS | 0.318 | 2 | - | - |
TMCO4 | - | - | - | - | 1 | Loss | - |
TMEM104 | p.V312M | Missense | SNP | 0.548 | 2 | - | - |
TMEM126B | p.A198V | Missense | SNP | 0.153 | 2 | - | - |
TMEM19 | - | - | - | - | 3 | Gain | - |
TMEM191B | - | - | - | - | 3 | Gain | - |
TMEM201 | - | - | - | - | 1 | Loss | - |
TMEM240 | - | - | - | - | 1 | Loss | - |
TMEM51 | - | - | - | - | 1 | Loss | - |
TMEM52 | - | - | - | - | 1 | Loss | - |
TMEM82 | - | - | - | - | 1 | Loss | - |
TMEM88B | - | - | - | - | 1 | Loss | - |
TMEM97 | p.K176Nfs*188 | Frame_Shift_Del | DEL | 0.393 | 2 | - | - |
TMPRSS6 | p.A596G | Missense | SNP | 0.423 | 2 | - | - |
TNFRSF14 | - | - | - | - | 1 | Loss | - |
TNFRSF18 | - | - | - | - | 1 | Loss | - |
TNFRSF1B | - | - | - | - | 1 | Loss | - |
TNFRSF25 | - | - | - | - | 1 | Loss | - |
TNFRSF4 | - | - | - | - | 1 | Loss | - |
TNFRSF8 | - | - | - | - | 1 | Loss | - |
TNFRSF9 | - | - | - | - | 1 | Loss | - |
TNR | p.L364P | Missense | SNP | 0.099 | 2 | - | - |
TOP3A | p.R758Qfs*3 | Frame_Shift_Ins | INS | 0.280 | 2 | - | - |
TOPAZ1 | p.P1447S | Missense | SNP | 0.509 | 2 | - | - |
TP73 | - | - | - | - | 1 | Loss | - |
TPH2 | p.L81M | Missense | SNP | 0.625 | 2 | - | - |
TPRG1L | - | - | - | - | 1 | Loss | - |
TPST2 | p.A44Gfs*5 | Frame_Shift_Ins | INS | 0.286 | 2 | - | - |
TRA2A | p.R83Q | Missense | SNP | 1.000 | 2 | - | - |
TRAPPC2L | - | - | - | - | 3 | Gain | - |
TRIM10 | p.T129A | Missense | SNP | 0.500 | 2 | - | - |
TRIM26 | p.R464C | Missense | SNP | 0.468 | 2 | - | - |
TRIM51 | p.M144Cfs*15 | Frame_Shift_Del | DEL | 0.451 | 2 | - | - |
TRIP11 | p.M308Wfs*8 | Frame_Shift_Del | DEL | 0.127 | 2 | - | - |
TRMT6 | p.K153Nfs*9 | Frame_Shift_Del | DEL | 0.545 | 2 | - | - |
TRPA1 | p.N109Tfs*23 | Frame_Shift_Del | DEL | 0.554 | 2 | - | - |
TRPM8 | p.E768Rfs*14 | Frame_Shift_Ins | INS | 0.302 | 2 | - | - |
TRPS1 | p.P578S | Missense | SNP | 0.483 | 2 | - | - |
TRRAP | p.M826V | Missense | SNP | 0.486 | 2 | - | - |
TSC22D4 | p.V382A | Missense | SNP | 0.519 | 2 | - | - |
TSHZ3 | p.Y197* | Nonsense | SNP | 0.500 | 2 | - | - |
TTC34 | - | - | - | - | 1 | Loss | - |
TTK | p.K857Nfs*36 | Frame_Shift_Del | DEL | 0.423 | 2 | - | - |
TTLL10 | - | - | - | - | 1 | Loss | - |
TTN | p.G30595V | Missense | SNP | 0.100 | 2 | - | - |
TUBB3 | - | - | - | - | 3 | Gain | - |
TYW1B | p.D303G | Missense | SNP | 0.447 | 2 | - | - |
U2AF1L5 | - | - | - | - | 1 | Loss | - |
UBE2J2 | - | - | - | - | 1 | Loss | - |
UBE4B | - | - | - | - | 1 | Loss | - |
UBIAD1 | - | - | - | - | 1 | Loss | - |
UBR4 | - | - | - | - | 1 | Loss | - |
UBXN10 | - | - | - | - | 1 | Loss | - |
ULK2 | p.S279Ifs*64 | Frame_Shift_Ins | INS | 0.341 | 2 | - | - |
UNC79 | p.K1316Sfs*12 | Frame_Shift_Del | DEL | 0.459 | 2 | - | - |
UQCRHL | - | - | - | - | 1 | Loss | - |
USP18 | - | - | - | - | 3 | Gain | - |
USP2 | p.D575N | Missense | SNP | 0.417 | 2 | - | - |
USP48 | - | - | - | - | 1 | Loss | - |
UTRN | p.G594D | Missense | SNP | 0.506 | 2 | - | - |
UTS2 | - | - | - | - | 1 | Loss | - |
VAMP3 | - | - | - | - | 1 | Loss | - |
VPS13D | p.L2118P | Missense | SNP | 0.252 | 1 | Loss | - |
VPS9D1 | - | - | - | - | 3 | Gain | - |
VWA1 | - | - | - | - | 1 | Loss | - |
VWA5B1 | - | - | - | - | 1 | Loss | - |
WDFY3 | p.Q41R | Missense | SNP | 0.556 | 2 | - | - |
WDR17 | p.X866_splice | Splice_Site | SNP | 0.547 | 2 | - | - |
WDR6 | p.R838Afs*3 | Frame_Shift_Ins | INS | 0.275 | 2 | - | - |
WDR62 | p.X234_splice | Splice_Site | SNP | 0.493 | 2 | - | - |
WDR64 | p.S136R | Missense | SNP | 0.471 | 2 | - | - |
WDR66 | p.L436Tfs*4 | Frame_Shift_Ins | INS | 0.288 | 2 | - | - |
WFDC3 | p.C56R | Missense | SNP | 0.500 | 2 | - | - |
WNT7A | p.G288R | Missense | SNP | 0.579 | 2 | - | - |
WRAP73 | - | - | - | - | 1 | Loss | - |
WWP2 | p.R542H | Missense | SNP | 0.447 | 2 | - | - |
YLPM1 | p.G255Wfs*3 | Frame_Shift_Ins | INS | 0.297 | 2 | - | - |
ZBED5 | p.P105Tfs*7 | Frame_Shift_Ins | INS | 0.309 | 2 | - | - |
ZBTB17 | - | - | - | - | 1 | Loss | - |
ZBTB48 | - | - | - | - | 1 | Loss | - |
ZC3H18 | - | - | - | - | 3 | Gain | - |
ZCCHC14 | - | - | - | - | 3 | Gain | - |
ZER1 | p.X104_splice | Splice_Site | SNP | 0.516 | 2 | - | - |
ZFPM1 | - | - | - | - | 3 | Gain | - |
ZNF12 | - | - | - | - | 3 | Gain | - |
ZNF276 | - | - | - | - | 3 | Gain | - |
ZNF469 | p.R3417Afs*58 | Frame_Shift_Ins | INS | 0.347 | 3 | Gain | - |
ZNF480 | p.I504M | Missense | SNP | 0.490 | 2 | - | - |
ZNF644 | p.R291Kfs*19 | Frame_Shift_Ins | INS | 0.254 | 2 | - | - |
ZNF687 | p.R939Pfs*36 | Frame_Shift_Ins | INS | 0.301 | 2 | - | - |
ZNF778 | - | - | - | - | 3 | Gain | - |
ZNF880 | p.E135K | Missense | SNP | 0.115 | 2 | - | - |
ZNF98 | p.N102Ifs*6 | Frame_Shift_Del | DEL | 0.425 | 2 | - | - |
ZNHIT6 | p.R315G | Missense | SNP | 0.483 | 2 | - | - |
ZNRF3 | p.P517L | Missense | SNP | 0.234 | 2 | - | - |