| Variant Type | Calling Status |
|---|---|
| Mutations | Called |
| Copy number | Called |
| Fusions | Called |
| Gene | Somatic Mutations | Classification | Type | VAF | Somatic Copy Number | CN status | Fusions |
|---|---|---|---|---|---|---|---|
| ABCA6 | p.F1531Sfs*14 p.L306Yfs*7 | Frame_Shift_Del Frame_Shift_Del | DEL DEL | 0.985 0.974 | 2 | - | - |
| ABCB7 | p.F522L | Missense | SNP | 0.513 | ND | ND | - |
| ABHD12 | p.H6Afs*63 | Frame_Shift_Ins | INS | 0.341 | 2 | - | - |
| ACRBP | p.S359L | Missense | SNP | 0.502 | 2 | - | - |
| ACTG2 | p.R29Pfs*30 | Frame_Shift_Ins | INS | 0.335 | 2 | - | - |
| ACVR2A | p.K437Rfs*5 | Frame_Shift_Del | DEL | 0.893 | 2 | - | - |
| ADAMTS1 | p.K735R | Missense | SNP | 0.392 | 2 | - | - |
| ADAMTS2 | p.C1080R | Missense | SNP | 0.432 | 2 | - | - |
| ADCY5 | p.A60Gfs*27 | Frame_Shift_Ins | INS | 0.290 | 2 | - | - |
| ADGRL2 | p.C602R | Missense | SNP | 0.439 | 2 | - | - |
| ADSSL1 | p.K291Qfs*16 | Frame_Shift_Ins | INS | 0.269 | 2 | - | - |
| AGO4 | p.R58H | Missense | SNP | 0.483 | 2 | - | - |
| AHI1 | p.T304Nfs*6 | Frame_Shift_Ins | INS | 0.352 | 2 | - | - |
| AHNAK | - | - | - | - | 3 | Gain | - |
| AHNAK2 | p.D5274V | Missense | MNP | 0.446 | 2 | - | - |
| AKAP9 | p.K39Rfs*17 | Frame_Shift_Del | DEL | 0.427 | 2 | - | - |
| ALS2CR11 | p.Q730Tfs*24 p.D428N | Frame_Shift_Ins Missense | INS SNP | 0.322 0.459 | ND | ND | - |
| AMDHD2 | p.R346Qfs*56 | Frame_Shift_Ins | INS | 0.297 | 2 | - | - |
| ANKHD1 | - | - | - | - | 3 | Gain | - |
| ANKHD1-EIF4EBP3 | - | - | - | - | 3 | Gain | - |
| ANTXR2 | p.L21P | Missense | SNP | 0.514 | 2 | - | - |
| APBA1 | p.A99V | Missense | SNP | 0.468 | 2 | - | - |
| APC | p.D849Rfs*2 p.R232* | Frame_Shift_Ins Nonsense | INS SNP | 0.319 0.389 | 2 | - | - |
| APOB | p.V2380A | Missense | SNP | 0.460 | 2 | - | - |
| ARHGAP28 | p.D197* | Frame_Shift_Ins | INS | 0.329 | 2 | - | - |
| ARHGAP35 | p.R972Pfs*40 | Frame_Shift_Ins | INS | 0.317 | 2 | - | - |
| ARHGAP40 | p.T470M | Missense | SNP | 0.560 | 2 | - | - |
| ARHGAP5 | p.N943Kfs*10 | Frame_Shift_Ins | INS | 0.284 | 2 | - | - |
| ARID1A | p.D1850Gfs*4 | Frame_Shift_Ins | INS | 0.480 | 2 | - | - |
| ARID2 | p.A1498V | Missense | SNP | 0.490 | 2 | - | - |
| ARID4B | p.K493* | Nonsense | SNP | 0.481 | 2 | - | - |
| ARL15 | p.V103Gfs*13 | Frame_Shift_Ins | INS | 0.311 | 2 | - | - |
| ARSJ | p.Y117C | Missense | SNP | 0.412 | 2 | - | - |
| ARV1 | p.P174Afs*14 | Frame_Shift_Ins | INS | 0.219 | 2 | - | - |
| ASB4 | p.T375A | Missense | SNP | 0.475 | 2 | - | - |
| ASCC3 | p.E530G | Missense | SNP | 0.461 | 2 | - | - |
| ASXL1 | p.G792D | Missense | SNP | 0.462 | 2 | - | - |
| ATAD3A | - | - | - | - | 3 | Gain | - |
| ATAD3B | - | - | - | - | 3 | Gain | - |
| ATAD3C | - | - | - | - | 3 | Gain | - |
| ATM | p.K2811Sfs*46 | Frame_Shift_Del | DEL | 0.400 | 2 | - | - |
| BCAS3 | p.G891Efs*76 | Frame_Shift_Del | DEL | 0.768 | 2 | - | - |
| BCL9L | p.P449Lfs*14 | Frame_Shift_Del | DEL | 0.431 | 2 | - | - |
| BDP1 | p.L313* | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
| BRWD3 | p.R1447Q | Missense | SNP | 0.462 | ND | ND | - |
| BTBD7 | p.Q1002Tfs*5 | Frame_Shift_Ins | INS | 0.294 | 2 | - | - |
| C1GALT1 | - | - | - | - | 3 | Gain | - |
| C1orf116 | p.R213K | Missense | SNP | 0.527 | 2 | - | - |
| C20orf194 | - | - | - | - | 1 | Loss | - |
| C4A | - | - | - | - | 3 | Gain | - |
| C4B | - | - | - | - | 3 | Gain | - |
| C6orf10 | p.K226N | Missense | SNP | 0.262 | 2 | - | - |
| C9orf84 | p.L1179Ffs*19 | Frame_Shift_Ins | INS | 0.314 | 2 | - | - |
| CALD1 | p.D92G | Missense | SNP | 0.364 | 2 | - | - |
| CATSPER4 | p.A99P | Missense | SNP | 0.460 | 2 | - | - |
| CATSPERD | p.S206Lfs*9 | Frame_Shift_Del | DEL | 0.101 | 2 | - | - |
| CBLN3 | p.S125G | Missense | SNP | 0.417 | 2 | - | - |
| CBS | - | - | - | - | 1 | Loss | - |
| CC2D1A | p.R783Afs*28 | Frame_Shift_Ins | INS | 0.300 | 2 | - | - |
| CCDC77 | p.R411C | Missense | SNP | 0.393 | 2 | - | - |
| CCNDBP1 | p.L79P | Missense | SNP | 0.440 | 2 | - | - |
| CCT8L2 | p.V292M | Missense | SNP | 0.343 | 2 | - | - |
| CCZ1B | - | - | - | - | 3 | Gain | - |
| CDH1 | p.E739G | Missense | SNP | 0.557 | 2 | - | - |
| CDH10 | p.Y730Tfs*19 | Frame_Shift_Del | DEL | 0.107 | 2 | - | - |
| CDK11A | p.N37Ifs*17 | Frame_Shift_Del | DEL | 0.396 | 2 | - | - |
| CDKN2D | p.N101S | Missense | SNP | 0.480 | 2 | - | - |
| CEBPB | p.A60Rfs*181 | Frame_Shift_Ins | INS | 0.309 | 2 | - | - |
| CEP55 | p.D247Ifs*9 | Frame_Shift_Del | DEL | 0.465 | 2 | - | - |
| CFHR2 | p.R85G | Missense | SNP | 0.427 | 2 | - | - |
| CGGBP1 | p.L151I | Missense | SNP | 0.053 | 2 | - | - |
| CHM | p.S629R | Missense | SNP | 0.432 | ND | ND | - |
| CHRNA7 | p.Q51* | Nonsense | SNP | 0.525 | 2 | - | - |
| CKS1B | - | - | - | - | 1 | Loss | - |
| CLDN5 | p.G105Vfs*2 | Frame_Shift_Del | DEL | 0.072 | 2 | - | - |
| CNN2 | p.G303R | Missense | SNP | 0.506 | 2 | - | - |
| COL3A1 | - | - | - | - | 1 | Loss | - |
| COL4A3 | - | - | - | - | 1 | Loss | - |
| COL4A4 | - | - | - | - | 1 | Loss | - |
| COL5A2 | - | - | - | - | 1 | Loss | - |
| COL7A1 | p.G2177Wfs*113 | Frame_Shift_Ins | INS | 0.342 | 2 | - | - |
| COL9A1 | - | - | - | - | 1 | Loss | - |
| COPB2 | p.K64R | Missense | SNP | 0.447 | 2 | - | - |
| CPAMD8 | p.R785Qfs*23 | Frame_Shift_Ins | INS | 0.358 | 2 | - | - |
| CPNE2 | p.A74T | Missense | SNP | 0.496 | 2 | - | - |
| CPXCR1 | p.C218Sfs*16 | Frame_Shift_Del | DEL | 0.474 | ND | ND | - |
| CRIPAK | p.A178T | Missense | SNP | 0.223 | ND | ND | - |
| CRYAA | - | - | - | - | 1 | Loss | - |
| CST1 | p.V81Gfs*28 | Frame_Shift_Ins | INS | 0.312 | 2 | - | - |
| CST4 | p.V81Gfs*28 | Frame_Shift_Ins | INS | 0.265 | 2 | - | - |
| CYFIP1 | p.S643P | Missense | SNP | 0.424 | 2 | - | - |
| CYFIP2 | p.L604P | Missense | SNP | 0.469 | 2 | - | - |
| CYLD | p.I769F | Missense | SNP | 0.607 | 2 | - | - |
| DAO | p.L27M | Missense | SNP | 0.510 | 2 | - | - |
| DAPK1 | p.Y1275Vfs*64 | Frame_Shift_Ins | INS | 0.341 | 2 | - | - |
| DCAF15 | p.S118N | Missense | SNP | 0.388 | 2 | - | - |
| DCBLD2 | p.A331Sfs*16 | Frame_Shift_Ins | INS | 0.329 | 2 | - | - |
| DENND4A | p.G977Rfs*3 | Frame_Shift_Ins | INS | 0.347 | 2 | - | - |
| DGKE | p.T204Qfs*6 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
| DHX36 | p.M154Cfs*27 | Frame_Shift_Del | DEL | 0.411 | 2 | - | - |
| DHX8 | p.H32Afs*42 | Frame_Shift_Ins | INS | 0.486 | 2 | - | - |
| DIAPH2 | p.N154Tfs*30 | Frame_Shift_Del | DEL | 0.529 | ND | ND | - |
| DIRC1 | - | - | - | - | 1 | Loss | - |
| DNA2 | p.S779Hfs*6 | Frame_Shift_Del | DEL | 0.546 | 2 | - | - |
| DNMT3A | p.A462V | Missense | SNP | 0.081 | 2 | - | - |
| DYNC1H1 | - | - | - | - | 3 | Gain | - |
| EGLN2 | . | Splice_Site | SNP | 0.567 | 2 | - | - |
| EHMT2 | p.V949M p.S222F | Missense Missense | SNP SNP | 0.473 0.522 | 2 | - | - |
| EIF3H | p.K241T | Missense | SNP | 0.391 | 2 | - | - |
| ELFN1 | p.A663E | Missense | SNP | 0.422 | 2 | - | - |
| EMC4 | - | - | - | - | 1 | Loss | - |
| ENDOU | p.N107I | Missense | SNP | 0.483 | 2 | - | - |
| EPHA5 | p.V775A | Missense | SNP | 0.500 | 2 | - | - |
| EPM2AIP1 | p.A367T | Missense | SNP | 0.463 | 2 | - | - |
| EPN2 | p.P231L | Missense | SNP | 0.441 | 2 | - | - |
| ERBB2 | p.G776V | Missense | SNP | 1.000 | 2 | - | - |
| ERBB3 | p.E928G | Missense | SNP | 0.475 | 2 | - | - |
| FAM104A | p.Q90Pfs*6 | Frame_Shift_Ins | INS | 0.487 | 2 | - | - |
| FAM135A | p.M426T | Missense | SNP | 0.425 | 2 | - | - |
| FAM196A | p.R246G | Missense | SNP | 0.436 | ND | ND | - |
| FAM81B | p.S18T | Missense | SNP | 0.474 | 2 | - | - |
| FAT3 | p.T3619M | Missense | SNP | 0.444 | 2 | - | - |
| FAT4 | p.A3494D | Missense | SNP | 0.500 | 2 | - | - |
| FBRSL1 | p.A914Pfs*90 | Frame_Shift_Del | DEL | 0.487 | 2 | - | - |
| FBXO45 | p.Y124C | Missense | SNP | 0.537 | 2 | - | - |
| FBXW4 | p.Y341H | Missense | SNP | 0.549 | 2 | - | - |
| FBXW5 | p.V546D | Missense | SNP | 0.503 | 2 | - | - |
| FER1L5 | p.D1747N | Missense | SNP | 0.451 | 2 | - | - |
| FGFR3 | p.Y278H | Missense | SNP | 0.509 | 2 | - | - |
| FILIP1 | p.T1011M | Missense | SNP | 0.474 | 2 | - | - |
| FILIP1L | p.L750Tfs*16 | Frame_Shift_Ins | INS | 0.315 | 2 | - | - |
| FKBP10 | p.G278Afs*20 | Frame_Shift_Del | DEL | 0.484 | 2 | - | - |
| FLAD1 | - | - | - | - | 1 | Loss | - |
| FPGT-TNNI3K | p.Y85C | Missense | SNP | 0.481 | 2 | - | - |
| FSIP2 | p.S5488Ffs*16 p.I812T | Frame_Shift_Ins Missense | INS SNP | 0.317 0.623 | 2 | - | - |
| FSTL4 | p.T834Pfs*59 | Frame_Shift_Del | DEL | 0.384 | 2 | - | - |
| FTSJ1 | p.Y262H | Missense | SNP | 0.404 | ND | ND | - |
| GAS7 | p.M1? | Frame_Shift_Del | DEL | 0.455 | 2 | - | - |
| GATA6 | p.X435_splice | Splice_Site | SNP | 0.431 | 2 | - | - |
| GATAD2B | p.R573C | Missense | SNP | 0.574 | 2 | - | - |
| GBF1 | - | - | - | - | 1 | Loss | - |
| GDF3 | p.M339V | Missense | SNP | 0.316 | 2 | - | - |
| GIPC1 | p.P50Lfs*48 | Frame_Shift_Del | DEL | 0.358 | 2 | - | - |
| GLI1 | - | - | - | - | 1 | Loss | - |
| GLT8D1 | - | - | - | - | 1 | Loss | - |
| GNL3 | p.A336G | Missense | SNP | 0.506 | 1 | Loss | - |
| GPCPD1 | p.T221A | Missense | SNP | 0.521 | 2 | - | - |
| GPR4 | p.A309V | Missense | SNP | 0.438 | 2 | - | - |
| GRAP2 | p.P191Rfs*49 | Frame_Shift_Del | DEL | 0.437 | 2 | - | - |
| GRIA3 | p.I844M | Missense | SNP | 0.448 | ND | ND | - |
| GRPR | p.C113Y | Missense | SNP | 0.308 | ND | ND | - |
| GTF3C1 | p.F1755Lfs*50 | Frame_Shift_Del | DEL | 0.462 | 2 | - | - |
| GULP1 | - | - | - | - | 1 | Loss | - |
| H2AFY2 | p.K147Efs*21 | Frame_Shift_Ins | INS | 0.285 | 2 | - | - |
| HAND2 | p.V83Cfs*16 | Frame_Shift_Del | DEL | 0.442 | 2 | - | - |
| HASPIN | - | - | - | - | 1 | Loss | - |
| HBQ1 | p.Q61R | Missense | SNP | 0.412 | 2 | - | - |
| HCN4 | p.A1014Lfs*4 p.S57P | Frame_Shift_Del Missense | DEL SNP | 0.493 0.462 | 2 | - | - |
| HNRNPK | - | - | - | - | 1 | Loss | - |
| HOXA5 | p.A153T | Missense | SNP | 0.528 | 2 | - | - |
| HSD17B3 | p.A283V | Missense | SNP | 0.290 | 2 | - | - |
| HSF2BP | - | - | - | - | 1 | Loss | - |
| IARS2 | p.G509D | Missense | SNP | 0.414 | 2 | - | - |
| IGSF8 | p.G161Rfs*18 | Frame_Shift_Ins | INS | 0.268 | 2 | - | - |
| IL27RA | p.V368A | Missense | SNP | 0.466 | 2 | - | - |
| INHBE | - | - | - | - | 1 | Loss | - |
| IQSEC2 | p.P533S | Missense | SNP | 0.524 | ND | ND | - |
| IRS1 | - | - | - | - | 1 | Loss | - |
| ISM2 | p.A199T | Missense | SNP | 0.515 | 2 | - | - |
| ITGAE | p.L601Pfs*8 | Frame_Shift_Ins | INS | 0.325 | 2 | - | - |
| ITGAX | p.Q933H | Missense | SNP | 0.441 | 2 | - | - |
| ITIH1 | - | - | - | - | 1 | Loss | - |
| ITIH6 | p.P1129L | Missense | SNP | 0.580 | ND | ND | - |
| JARID2 | p.A396Gfs*25 | Frame_Shift_Ins | INS | 0.297 | 2 | - | - |
| KCNN1 | p.P28H | Missense | SNP | 0.535 | 2 | - | - |
| KDM4E | p.F280S | Missense | SNP | 0.458 | 2 | - | - |
| KDM5C | p.A1285V | Missense | SNP | 0.496 | ND | ND | - |
| KDM6A | p.E1102A | Missense | SNP | 0.455 | ND | ND | - |
| KIAA0100 | p.R1371W | Missense | SNP | 0.071 | 2 | - | - |
| KIAA0232 | p.A461S | Missense | SNP | 0.517 | 2 | - | - |
| KIAA1468 | p.E819G | Missense | SNP | 0.450 | ND | ND | - |
| KIAA1671 | p.F1028Lfs*40 | Frame_Shift_Del | DEL | 0.456 | 2 | - | - |
| KIF21A | p.K129Nfs*3 | Frame_Shift_Del | DEL | 0.577 | 2 | - | - |
| KLHDC8B | p.P162T | Missense | SNP | 0.452 | 2 | - | - |
| KMT2C | p.R2066* | Nonsense | SNP | 0.484 | 2 | - | - |
| KMT2D | p.Q3919dup | In_Frame_Ins | INS | 0.271 | 2 | - | - |
| KRT34 | p.A415T | Missense | SNP | 0.252 | 2 | - | - |
| KRTAP4-11 | p.C120* | Nonsense | SNP | 0.424 | ND | ND | - |
| LHX1 | p.E399Kfs*2 | Frame_Shift_Del | DEL | 0.417 | 2 | - | - |
| LPCAT4 | - | - | - | - | 1 | Loss | - |
| LRAT | p.V185A | Missense | SNP | 0.402 | 2 | - | - |
| LRFN4 | p.L227Pfs*6 | Frame_Shift_Ins | INS | 0.344 | 2 | - | - |
| LRP1 | p.D4193Rfs*9 | Frame_Shift_Ins | INS | 0.303 | 2 | - | - |
| LRRC43 | p.L208I | Missense | SNP | 0.483 | 2 | - | - |
| LTBP3 | p.Q810R | Missense | SNP | 0.432 | 2 | - | - |
| LURAP1 | p.R13Q | Missense | SNP | 0.494 | 2 | - | - |
| LUZP1 | p.R509* | Nonsense | SNP | 0.422 | 2 | - | - |
| MACF1 | p.Q1755R | Missense | SNP | 0.467 | 2 | - | - |
| MAGEC2 | p.S118R p.T18S | Missense Missense | SNP SNP | 0.503 0.417 | ND | ND | - |
| MAP1B | p.T1503A | Missense | SNP | 0.484 | 2 | - | - |
| MCF2L2 | p.V383G | Missense | SNP | 0.492 | 2 | - | - |
| MDGA2 | p.N376Kfs*9 | Frame_Shift_Ins | INS | 0.327 | 2 | - | - |
| MDM4 | - | - | - | - | 1 | Loss | - |
| MEIOC | p.D880G | Missense | SNP | 0.516 | 2 | - | - |
| MEX3A | p.G67Afs*60 | Frame_Shift_Del | DEL | 0.517 | 2 | - | - |
| MFRP | p.N167Qfs*34 | Frame_Shift_Ins | INS | 0.305 | 2 | - | - |
| MLIP | p.E480Gfs*6 | Frame_Shift_Ins | INS | 0.333 | 2 | - | - |
| MSH6 | p.N404T | Missense | SNP | 0.517 | 2 | - | - |
| MSRA | p.K235Nfs*14 | Frame_Shift_Del | DEL | 0.506 | 2 | - | - |
| MSS51 | p.A23T | Missense | SNP | 0.529 | 2 | - | - |
| MUM1L1 | p.Q125Tfs*8 | Frame_Shift_Ins | INS | 0.317 | ND | ND | - |
| MYB | p.N715Kfs*12 | Frame_Shift_Ins | INS | 0.311 | 2 | - | - |
| MYH1 | p.R1845H | Missense | SNP | 0.404 | 2 | - | - |
| MYLK | p.S1015R | Missense | SNP | 0.489 | 2 | - | - |
| MYO15A | p.K613T | Missense | SNP | 0.501 | 2 | - | - |
| MYO18B | p.C669R | Missense | SNP | 0.521 | 2 | - | - |
| MYO1A | p.L500R | Missense | SNP | 0.386 | 2 | - | - |
| NALCN | p.K812Rfs*6 p.R737C | Frame_Shift_Del Missense | DEL SNP | 0.510 0.440 | 2 | - | - |
| NAPSA | p.A310G | Missense | SNP | 0.430 | 2 | - | - |
| NCAPD3 | p.X490_splice | Splice_Site | SNP | 0.567 | 2 | - | - |
| NCAPG | p.V629A | Missense | SNP | 0.480 | 2 | - | - |
| NCEH1 | p.S105Kfs*16 | Frame_Shift_Ins | INS | 0.299 | 2 | - | - |
| NCOR2 | p.R986Pfs*76 | Frame_Shift_Ins | INS | 0.292 | 2 | - | - |
| NEGR1 | p.T95A | Missense | SNP | 0.259 | 2 | - | - |
| NEK4 | - | - | - | - | 1 | Loss | - |
| NF1 | p.X667_splice | Splice_Site | SNP | 0.436 | 2 | - | - |
| NFATC1 | p.R590H | Missense | SNP | 0.384 | 2 | - | - |
| NFATC3 | p.S690Kfs*22 | Frame_Shift_Ins | INS | 0.290 | 2 | - | - |
| NHSL1 | p.T97R | Missense | SNP | 0.336 | 2 | - | - |
| NIFK | p.G180Efs*9 | Frame_Shift_Del | DEL | 0.500 | 2 | - | - |
| NOP10 | - | - | - | - | 1 | Loss | - |
| NOS3 | p.C441Lfs*57 | Frame_Shift_Ins | INS | 0.310 | 2 | - | - |
| NPAT | p.S1291Lfs*2 | Frame_Shift_Ins | INS | 0.306 | 2 | - | - |
| NRARP | p.S58P | Missense | SNP | 0.554 | 2 | - | - |
| NRXN2 | p.T1508Hfs*82 | Frame_Shift_Ins | INS | 0.265 | 2 | - | - |
| NUP188 | p.L253P | Missense | SNP | 0.592 | 2 | - | - |
| NUP210 | p.A1755T | Missense | SNP | 0.465 | 2 | - | - |
| NUTM1 | - | - | - | - | 1 | Loss | - |
| OBSCN | p.E3977A | Missense | SNP | 0.523 | 2 | - | - |
| OR10R2 | p.T295M | Missense | SNP | 0.449 | 2 | - | - |
| OR10Z1 | p.D89Gfs*23 | Frame_Shift_Ins | INS | 0.267 | 2 | - | - |
| OR11H12 | - | - | - | - | 3 | Gain | - |
| OR11H2 | - | - | - | - | 3 | Gain | - |
| OR1D2 | p.T167A | Missense | SNP | 0.432 | 2 | - | - |
| OR4A47 | p.L195R | Missense | SNP | 0.479 | 2 | - | - |
| OR4K1 | - | - | - | - | 3 | Gain | - |
| OR4K2 | - | - | - | - | 3 | Gain | - |
| OR4K5 | - | - | - | - | 3 | Gain | - |
| OR4M1 | - | - | - | - | 3 | Gain | - |
| OR4N2 | - | - | - | - | 3 | Gain | - |
| OR4Q3 | - | - | - | - | 3 | Gain | - |
| OR51E2 | p.F156Sfs*6 | Frame_Shift_Del | DEL | 0.506 | 2 | - | - |
| OR51S1 | p.G226S | Missense | SNP | 0.489 | 2 | - | - |
| ORC3 | p.R368H | Missense | SNP | 0.595 | 2 | - | - |
| PAM | p.D434Gfs*6 | Frame_Shift_Ins | INS | 0.330 | 2 | - | - |
| PARK2 | p.V330Rfs*17 | Frame_Shift_Ins | INS | 0.393 | ND | ND | - |
| PATJ | p.A338Cfs*20 | Frame_Shift_Ins | INS | 0.289 | 2 | - | - |
| PAX9 | p.Y286C | Missense | SNP | 0.488 | 2 | - | - |
| PAXBP1 | p.A825Pfs*4 | Frame_Shift_Del | DEL | 0.435 | 2 | - | - |
| PBX2 | p.G14A | Missense | SNP | 0.141 | 2 | - | - |
| PBXIP1 | - | - | - | - | 1 | Loss | - |
| PCDH10 | p.Q227Sfs*43 | Frame_Shift_Del | DEL | 0.463 | 2 | - | - |
| PCDHA5 | p.F462S | Missense | SNP | 0.479 | 2 | - | - |
| PCDHA6 | p.Y518H | Missense | SNP | 0.489 | 2 | - | - |
| PCDHA7 | p.S680P | Missense | SNP | 0.383 | 2 | - | - |
| PCDHB9 | p.V722A | Missense | SNP | 0.453 | 2 | - | - |
| PCIF1 | p.Y618H | Missense | SNP | 0.498 | 2 | - | - |
| PCNX1 | p.T1459A | Missense | SNP | 0.430 | 2 | - | - |
| PCYT1A | p.S271Afs*29 | Frame_Shift_Del | DEL | 0.569 | 2 | - | - |
| PDE10A | - | - | - | - | 1 | Loss | - |
| PDE4B | p.R581H | Missense | SNP | 0.471 | 2 | - | - |
| PDGFRB | p.R641H | Missense | SNP | 0.425 | 2 | - | - |
| PDPR | p.R448H | Missense | SNP | 0.064 | 2 | - | - |
| PDZD2 | p.G2075Rfs*24 | Frame_Shift_Ins | INS | 0.304 | 2 | - | - |
| PGC | p.R30S | Missense | SNP | 0.500 | 2 | - | - |
| PHACTR2 | p.T240Nfs*5 | Frame_Shift_Ins | INS | 0.311 | 2 | - | - |
| PHKB | p.A601V | Missense | SNP | 0.462 | 2 | - | - |
| PHTF2 | p.L536Ffs*10 | Frame_Shift_Ins | INS | 0.341 | 2 | - | - |
| PIK3C2B | - | - | - | - | 1 | Loss | - |
| PIK3CA | p.H1047R | Missense | SNP | 0.585 | 2 | - | - |
| PILRB | p.I63T p.V64A | Missense Missense | SNP SNP | 0.143 0.152 | 2 | - | - |
| PITX3 | - | - | - | - | 1 | Loss | - |
| PKD1 | - | - | - | - | 1 | Loss | - |
| PLCZ1 | p.N530Mfs*22 | Frame_Shift_Del | DEL | 0.447 | 2 | - | - |
| PLEKHA6 | - | - | - | - | 1 | Loss | - |
| PLEKHM1 | p.S956F | Missense | SNP | 1.000 | 2 | - | - |
| PLOD3 | p.Q293Afs*48 | Frame_Shift_Ins | INS | 0.247 | 2 | - | - |
| PLPPR4 | p.S523P | Missense | SNP | 0.444 | 2 | - | - |
| PLXNA2 | p.H465Pfs*27 | Frame_Shift_Ins | INS | 0.320 | 2 | - | - |
| PMVK | - | - | - | - | 1 | Loss | - |
| POF1B | p.T169Nfs*11 | Frame_Shift_Ins | INS | 0.338 | ND | ND | - |
| POLH | p.V19Cfs*14 | Frame_Shift_Ins | INS | 0.359 | 2 | - | - |
| POTEG | - | - | - | - | 3 | Gain | - |
| POTEM | - | - | - | - | 3 | Gain | - |
| PPFIA2 | p.N111S | Missense | SNP | 0.472 | 2 | - | - |
| PPP1R15B | - | - | - | - | 1 | Loss | - |
| PPP4R3B | p.I97Ffs*35 | Frame_Shift_Del | DEL | 0.486 | 2 | - | - |
| PREX1 | p.L1659F | Missense | SNP | 0.423 | 2 | - | - |
| PRICKLE3 | p.A60T | Missense | SNP | 0.490 | ND | ND | - |
| PRRC2C | p.K551Nfs*17 | Frame_Shift_Del | DEL | 0.578 | 2 | - | - |
| PTGFR | p.V215G | Missense | SNP | 0.346 | 2 | - | - |
| PTPN3 | p.R355W | Missense | SNP | 0.486 | 2 | - | - |
| PYGO2 | - | - | - | - | 1 | Loss | - |
| RAB11FIP3 | p.E453Sfs*38 | Frame_Shift_Del | DEL | 0.509 | 2 | - | - |
| RALGAPA2 | p.G1794Wfs*5 | Frame_Shift_Ins | INS | 0.330 | 2 | - | - |
| RAPH1 | p.P766Tfs*157 | Frame_Shift_Ins | INS | 0.224 | 2 | - | - |
| RARA | p.A58Gfs*14 | Frame_Shift_Ins | INS | 0.318 | 2 | - | - |
| RASAL2 | p.D390Gfs*4 | Frame_Shift_Ins | INS | 0.293 | 2 | - | - |
| RBM20 | p.I1090Hfs*4 | Frame_Shift_Ins | INS | 0.300 | 2 | - | - |
| RBM27 | p.Q817Tfs*63 | Frame_Shift_Ins | INS | 0.228 | 2 | - | - |
| RCAN2 | p.N222K | Missense | SNP | 0.368 | 2 | - | - |
| RDH8 | p.A261S | Missense | SNP | 0.480 | 1 | Loss | - |
| RECQL4 | p.T858A | Missense | SNP | 0.507 | 2 | - | - |
| REXO1 | p.Y1173Ifs*179 | Frame_Shift_Ins | INS | 0.280 | 2 | - | - |
| RGS12 | p.Q1292Rfs*49 | Frame_Shift_Del | DEL | 0.447 | 2 | - | - |
| RHBDD1 | - | - | - | - | 1 | Loss | - |
| RN7SKP48 | - | - | - | - | ND | ND | RN7SKP71--RN7SKP48 |
| RN7SKP71 | - | - | - | - | ND | ND | RN7SKP71--RN7SKP48 |
| RNF141 | p.T9A | Missense | SNP | 0.440 | 2 | - | - |
| ROS1 | p.Y363Lfs*25 | Frame_Shift_Ins | INS | 0.325 | 2 | - | - |
| RP4-583P15.15 | p.G262S | Missense | SNP | 0.488 | ND | ND | - |
| RPE65 | p.R296Gfs*29 | Frame_Shift_Del | DEL | 0.423 | 2 | - | - |
| RPTOR | p.H1177R | Missense | SNP | 0.418 | 2 | - | - |
| RSPH10B2 | - | - | - | - | 3 | Gain | - |
| SACS | p.K1717Nfs*8 | Frame_Shift_Del | DEL | 0.471 | 2 | - | - |
| SATB2 | p.D685G | Missense | SNP | 0.461 | 2 | - | - |
| SCAF1 | p.E729G | Missense | SNP | 0.487 | 2 | - | - |
| SCN10A | p.T709Yfs*3 | Frame_Shift_Ins | INS | 0.288 | 2 | - | - |
| SCN5A | p.T630A | Missense | SNP | 0.496 | 2 | - | - |
| SCNN1G | p.S302Qfs*27 | Frame_Shift_Ins | INS | 0.315 | 2 | - | - |
| SEC14L5 | p.I435F | Missense | SNP | 0.598 | 2 | - | - |
| SEC31B | p.A700E | Missense | SNP | 0.372 | 2 | - | - |
| SEL1L | p.E358del | In_Frame_Del | DEL | 0.388 | 2 | - | - |
| SHANK3 | p.T1606Pfs*24 | Frame_Shift_Del | DEL | 0.441 | 2 | - | - |
| SHC1 | - | - | - | - | 1 | Loss | - |
| SHISA2 | p.A31V | Missense | SNP | 0.476 | 2 | - | - |
| SHOC2 | p.L333P | Missense | SNP | 0.884 | 2 | - | - |
| SIK1 | - | - | - | - | 1 | Loss | - |
| SIX3 | p.L7Pfs*26 | Frame_Shift_Ins | INS | 0.319 | 2 | - | - |
| SLC12A6 | - | - | - | - | 1 | Loss | - |
| SLC16A1 | p.D15Rfs*34 | Frame_Shift_Ins | INS | 0.281 | 2 | - | - |
| SLC25A38 | p.L165P | Missense | SNP | 0.462 | 2 | - | - |
| SLC29A4 | p.E35G | Missense | SNP | 0.456 | 2 | - | - |
| SLC2A7 | p.Y380C | Missense | SNP | 0.415 | 2 | - | - |
| SLCO3A1 | p.A573T | Missense | SNP | 0.475 | 2 | - | - |
| SMARCA4 | p.E365G | Missense | SNP | 0.531 | 2 | - | - |
| SMPD4 | p.Y480H | Missense | SNP | 0.555 | 2 | - | - |
| SMPDL3B | p.R17G | Missense | SNP | 0.567 | 2 | - | - |
| SMURF1 | - | - | - | - | 3 | Gain | - |
| SOX11 | p.R16Pfs*209 | Frame_Shift_Ins | INS | 0.349 | 2 | - | - |
| SOX9 | p.H169R | Missense | SNP | 1.000 | 2 | - | - |
| SPAG17 | p.A1503T | Missense | SNP | 0.287 | 2 | - | - |
| SPCS1 | - | - | - | - | 1 | Loss | - |
| SPG21 | p.L191S | Missense | SNP | 0.509 | 2 | - | - |
| SRA1 | - | - | - | - | 3 | Gain | - |
| SRMS | p.L9R | Missense | SNP | 0.379 | 2 | - | - |
| SRPX2 | p.Y26F p.A124T | Missense Missense | SNP SNP | 0.371 0.341 | ND | ND | - |
| SSBP4 | p.A157Pfs*40 | Frame_Shift_Ins | INS | 0.248 | 2 | - | - |
| SSH2 | p.R1441Tfs*8 | Frame_Shift_Ins | INS | 0.317 | 2 | - | - |
| SSU72 | - | - | - | - | 3 | Gain | - |
| STAB1 | p.G134E | Missense | SNP | 0.490 | 2 | - | - |
| SYNJ2 | p.P1114Sfs*48 | Frame_Shift_Ins | INS | 0.254 | 2 | - | - |
| SYNPO2 | p.K752E | Missense | SNP | 0.500 | 2 | - | - |
| TAF1 | p.R122Q | Missense | SNP | 0.450 | ND | ND | - |
| TAF1L | p.A666Gfs*38 p.P1311H | Frame_Shift_Ins Missense | INS SNP | 0.302 0.523 | 2 | - | - |
| TAF4B | p.A599P | Missense | SNP | 0.519 | 2 | - | - |
| TBC1D23 | p.H650Tfs*3 | Frame_Shift_Ins | INS | 0.356 | 2 | - | - |
| TBL1XR1 | p.L336S | Missense | SNP | 0.431 | 2 | - | - |
| TCEB3CL | p.R285W | Missense | SNP | 0.080 | ND | ND | - |
| TEX41 | . | Splice_Site | SNP | 0.422 | ND | ND | - |
| TGIF2LX | p.L159Pfs*22 | Frame_Shift_Ins | INS | 0.318 | ND | ND | - |
| TGM3 | p.R248M | Missense | SNP | 0.405 | 2 | - | - |
| TGM6 | p.Q360Rfs*99 | Frame_Shift_Del | DEL | 0.683 | 2 | - | - |
| TICAM1 | p.P643Tfs*123 | Frame_Shift_Ins | INS | 0.278 | 2 | - | - |
| TMEM237 | p.Y248C | Missense | SNP | 0.480 | 2 | - | - |
| TMEM240 | - | - | - | - | 3 | Gain | - |
| TMEM8A | p.A733T | Missense | SNP | 0.080 | 2 | - | - |
| TMEM97 | p.K176Nfs*188 | Frame_Shift_Del | DEL | 0.882 | 2 | - | - |
| TNK2 | p.P711Afs*4 | Frame_Shift_Ins | INS | 0.437 | 2 | - | - |
| TNXB | p.T2714M | Missense | SNP | 0.418 | 2 | - | - |
| TOP3A | p.R758Qfs*3 | Frame_Shift_Ins | INS | 0.243 | 2 | - | - |
| TPST2 | p.A44Gfs*5 | Frame_Shift_Ins | INS | 0.306 | 2 | - | - |
| TRA2A | p.R83Q | Missense | SNP | 1.000 | 2 | - | - |
| TRIM26 | p.R464C | Missense | SNP | 0.556 | 2 | - | - |
| TRPM6 | p.A917V | Missense | SNP | 0.605 | 2 | - | - |
| TRPM8 | p.E768Rfs*14 | Frame_Shift_Ins | INS | 0.267 | 2 | - | - |
| TRPS1 | p.P578S | Missense | SNP | 0.477 | 2 | - | - |
| TRRAP | p.M826V | Missense | SNP | 0.474 | 3 | Gain | - |
| TSC22D4 | p.V382A | Missense | SNP | 0.448 | 2 | - | - |
| TSHZ3 | p.Y197* | Nonsense | SNP | 0.543 | 2 | - | - |
| TTK | p.R854Gfs*39 | Frame_Shift_Del | DEL | 0.432 | 2 | - | - |
| TUBB1 | p.D209G | Missense | SNP | 0.456 | 2 | - | - |
| TUBGCP4 | p.I276Sfs*16 | Frame_Shift_Del | DEL | 0.445 | 2 | - | - |
| TYW1B | p.D303G | Missense | SNP | 0.366 | 2 | - | - |
| U2AF1 | - | - | - | - | 1 | Loss | - |
| UGT2B10 | p.N212Ifs*17 | Frame_Shift_Del | DEL | 0.284 | 2 | - | - |
| ULK1 | p.L139P | Missense | SNP | 0.476 | 2 | - | - |
| ULK2 | p.S279Ifs*64 | Frame_Shift_Ins | INS | 0.309 | 2 | - | - |
| USP47 | p.G1101Efs*22 | Frame_Shift_Del | DEL | 0.658 | 2 | - | - |
| USP7 | p.Q4H | Missense | SNP | 0.563 | 2 | - | - |
| UTRN | p.G594D | Missense | SNP | 0.439 | 2 | - | - |
| VASH1 | p.K5Efs*39 | Frame_Shift_Ins | INS | 0.332 | 2 | - | - |
| VCX3A | p.S96N | Missense | SNP | 0.229 | ND | ND | - |
| VLDLR | p.A195T | Missense | SNP | 0.460 | 2 | - | - |
| WDFY3 | p.Q41R | Missense | SNP | 0.465 | 2 | - | - |
| WDR17 | p.X866_splice | Splice_Site | SNP | 0.443 | 2 | - | - |
| WDR64 | p.S136R | Missense | SNP | 0.388 | 2 | - | - |
| WDR66 | p.L436Tfs*4 | Frame_Shift_Ins | INS | 0.269 | 2 | - | - |
| WFDC3 | p.C56R | Missense | SNP | 0.458 | 2 | - | - |
| WNT7A | p.G288R | Missense | SNP | 0.516 | 2 | - | - |
| WWP2 | p.R542H | Missense | SNP | 0.465 | 2 | - | - |
| YLPM1 | p.G255Wfs*3 | Frame_Shift_Ins | INS | 0.261 | 2 | - | - |
| ZBED5 | p.P105Tfs*7 | Frame_Shift_Ins | INS | 0.317 | 2 | - | - |
| ZDHHC8 | p.T459Rfs*177 | Frame_Shift_Del | DEL | 0.491 | 2 | - | - |
| ZER1 | p.X104_splice | Splice_Site | SNP | 0.545 | 2 | - | - |
| ZFHX4 | p.Q179H | Missense | SNP | 0.538 | 2 | - | - |
| ZFP37 | p.A22V | Missense | SNP | 0.519 | 2 | - | - |
| ZKSCAN1 | p.I23V | Missense | SNP | 0.447 | 2 | - | - |
| ZMYM3 | p.Y1161C | Missense | SNP | 0.500 | ND | ND | - |
| ZNF112 | p.R791H | Missense | SNP | 0.505 | 2 | - | - |
| ZNF12 | - | - | - | - | 3 | Gain | - |
| ZNF480 | p.I504M | Missense | SNP | 0.514 | 2 | - | - |
| ZNF644 | p.R291Kfs*19 | Frame_Shift_Ins | INS | 0.286 | 2 | - | - |
| ZNF687 | p.R871Kfs*34 | Frame_Shift_Ins | INS | 0.305 | 2 | - | - |
| ZNF813 | p.R466G | Missense | SNP | 0.460 | 2 | - | - |
| ZNF98 | p.N102Ifs*6 | Frame_Shift_Del | DEL | 0.343 | 2 | - | - |
| ZSCAN20 | p.R114H | Missense | SNP | 0.480 | 2 | - | - |