TNFRSF1A

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Name:	TNF receptor superfamily member 1A
Symbol:	TNFRSF1A
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	CD120a TNF-R TNF-R-I TNF-R55 TNFAR TNFR60
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Congenital structural heart defects (gene panel)
• Periodic Fever (88 genes)
• Primary immune deficiencies (gene panel)
• Primary immune deficiencies (gene panel)

Related Diseases

• Intermittent hydrarthrosis
• NON RARE IN EUROPE: Multiple sclerosis
• Tumor necrosis factor receptor 1 associated periodic syndrome

Related Gene Panels

• Congenital structural heart defects - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AATK	99.98	1
  ABL1	100.00	1
  ACAN	91.51	1
  ACTA1	99.99	1
  ACTB	100.00	1
  ACTC1	98.57	1
  ACTG1	100.00	1
  ACTN2	99.99	1
  ACVR1	99.94	1
  ACVR1B	99.99	1
  ACVR2A	99.15	1
  ACVR2B	99.99	1
  ACVRL1	99.88	1
  ADAMTS10	99.99	1
  ADNP	100.00	1
  AKAP12	100.00	1
  AKT1	100.00	1
  AKT2	99.85	1
  ALDH1A2	99.97	1
  ALX3	99.74	1
  ANKRD1	99.57	1
  ANKRD11	99.85	1
  AP1B1	99.99	1
  APAF1	98.70	1
  AR	99.76	1
  ARHGAP31	100.00	1
  ARID4A	99.90	1
  ATP2A2	99.98	1
  ATRX	99.44	1
  AXIN1	100.00	1
  BCOR	99.97	1
  BMP10	99.96	1
  BMP2	99.79	1
  BMP4	100.00	1
  BMP6	100.00	1
  BMP7	100.00	1
  BMPR1A	99.58	1
  BMPR2	99.95	1
  BRAF	99.78	1
  BRIP1	99.39	1
  BVES	99.83	1
  CASQ2	94.39	1
  CAV1	99.97	1
  CAV3	100.00	1
  CBL	99.95	1
  CCDC103	99.68	1
  CCDC39	99.74	1
  CCDC40	100.00	1
  CCDC65	99.80	1
  CCN1	99.99	1
  CCNO	100.00	1
  CD96	99.91	1
  CDK13	99.83	1
  CDK4	100.00	1
  CDX2	100.00	1
  CENPF	99.97	1
  CFAP53	99.95	1
  CFC1	21.93	1
  CHAC2	99.68	1
  CHD4	99.99	1
  CHD7	99.99	1
  CHD8	99.96	1
  CITED2	100.00	1
  COL1A1	99.90	1
  COL1A2	99.34	1
  COL2A1	99.87	1
  COX7B	99.86	1
  CREBBP	99.97	1
  CRELD1	99.99	1
  CRIP2	99.99	1
  CRYAB	100.00	1
  CSNK1D	99.99	1
  CSRP1	99.75	1
  CSRP3	100.00	1
  CTNNB1	99.95	1
  DDX3X	99.01	1
  DES	100.00	1
  DIAPH3	99.85	1
  DICER1	99.96	1
  DLGAP5	99.83	1
  DLL1	99.99	1
  DLL4	100.00	1
  DNAAF1	99.99	1
  DNAAF11	99.80	1
  DNAAF2	99.91	1
  DNAAF3	99.99	1
  DNAAF4	99.78	1
  DNAAF5	99.99	1
  DNAH11	99.93	1
  DNAH5	99.98	1
  DNAI1	99.92	1
  DNAI2	99.86	1
  DNAJB13	99.91	1
  DNAH9	99.79	1
  DRC1	99.93	1
  DSCAM	99.99	1
  DVL1	100.00	1
  DYRK1A	99.98	1
  E2F1	99.99	1
  ECE1	99.92	1
  EDNRA	99.97	1
  EFEMP2	99.94	1
  EFNB1	99.95	1
  EFTUD2	99.93	1
  EGFR	99.68	1
  EGR1	99.99	1
  EHMT1	98.38	1
  ELN	99.86	1
  ENG	100.00	1
  EOGT	99.09	1
  EP300	99.97	1
  EPHB2	99.86	1
  EPHB4	99.82	1
  ERBB2	99.98	1
  ERCC4	99.92	1
  ESR2	99.96	1
  ETS1	99.99	1
  EVC	99.95	1
  EVC2	99.97	1
  EWSR1	99.94	1
  EZH2	99.89	1
  F2R	99.98	1
  FABP3	99.87	1
  FADD	99.97	1
  FANCA	100.00	1
  FANCB	99.24	1
  FANCC	99.98	1
  FANCD2	99.86	1
  FANCE	99.99	1
  FANCF	100.00	1
  FANCG	100.00	1
  FANCI	99.96	1
  FANCL	99.67	1
  FBLN1	98.69	1
  FBLN7	99.95	1
  FBN1	99.85	1
  FBN2	99.90	1
  FGF10	99.95	1
  FGF8	100.00	1
  FGFR1	100.00	1
  FGFR2	99.99	1
  FGFR3	100.00	1
  FHL2	100.00	1
  FIBP	99.83	1
  FLII	100.00	1
  FLNA	99.99	1
  FLNC	99.99	1
  FLT1	99.99	1
  FLT4	97.93	1
  FN1	99.95	1
  FOXC1	100.00	1
  FOXC2	100.00	1
  FOXH1	100.00	1
  FOXK2	99.76	1
  FOXL1	100.00	1
  FOXL2	99.97	1
  FOXO1	100.00	1
  FOXP1	99.98	1
  FSCN2	100.00	1
  G6PC3	99.98	1
  GAS8	100.00	1
  GATA2	99.99	1
  GATA4	99.99	1
  GATA5	100.00	1
  GATA6	99.90	1
  GATAD2B	99.44	1
  GDF1	100.00	1
  GDF11	99.97	1
  GDF5	100.00	1
  GDNF	99.99	1
  GJA1	100.00	1
  GJA5	100.00	1
  GJD2	99.99	1
  GLB1	100.00	1
  GLI2	99.93	1
  GLI3	100.00	1
  GPC3	99.60	1
  GPC5	99.96	1
  GPC6	99.98	1
  GRK5	99.97	1
  GTF2I	47.18	1
  GTF2IRD1	99.77	1
  HAND1	99.99	1
  HAND2	99.97	1
  HDAC8	99.74	1
  HES4	100.00	1
  HEY2	99.75	1
  HIF1A	99.87	1
  HMGB2	99.99	1
  HNF1A	100.00	1
  HNF4A	100.00	1
  HOXA1	100.00	1
  HOXB2	99.99	1
  HRAS	100.00	1
  HSPB1	99.97	1
  HSPB8	100.00	1
  HSPG2	99.87	1
  HYDIN	81.28	1
  ID2	100.00	1
  IGF1R	100.00	1
  IGFBP4	99.85	1
  IKBKB	99.93	1
  ILK	100.00	1
  INHBA	99.98	1
  INHBC	99.99	1
  INPP5D	99.98	1
  INSR	99.99	1
  IRS1	100.00	1
  IRX4	99.99	1
  ISL1	99.99	1
  ITGAV	99.40	1
  ITGB1	99.96	1
  ITGB3	99.83	1
  ITGB4	99.99	1
  JAG1	100.00	1
  JAM3	100.00	1
  JUN	100.00	1
  KANSL1	99.85	1
  KAT6A	99.93	1
  KAT6B	99.79	1
  KDM3B	99.98	1
  KDM5A	99.90	1
  KDM5B	97.15	1
  KDM6A	99.74	1
  KDR	99.86	1
  KIT	99.86	1
  KMT2D	99.98	1
  KRAS	99.13	1
  KREMEN1	99.88	1
  LAMA2	99.95	1
  LAMA5	99.99	1
  LAMC1	99.55	1
  LBR	99.66	1
  LEFTY1	99.98	1
  LEFTY2	100.00	1
  LHX3	99.99	1
  LMNA	99.96	1
  LMX1B	100.00	1
  LRP2	99.86	1
  LTBP1	99.95	1
  LTBP3	99.96	1
  LZTR1	99.46	1
  MAFG	100.00	1
  MAP2K1	99.98	1
  MAP2K2	99.99	1
  MAPK14	99.95	1
  MCTP2	99.99	1
  MECOM	99.97	1
  MED13L	99.99	1
  MEF2C	99.57	1
  MEGF8	99.90	1
  MESP1	100.00	1
  MET	99.97	1
  METTL3	99.98	1
  MGP	99.95	1
  MID1	99.90	1
  MITF	99.98	1
  MMP2	99.96	1
  MMP21	99.99	1
  MSX1	100.00	1
  MTHFD1	100.00	1
  MTHFR	99.97	1
  MTRR	99.98	1
  MYBPC3	99.98	1
  MYC	100.00	1
  MYH10	99.91	1
  MYH11	99.16	1
  MYH6	100.00	1
  MYH7	99.99	1
  MYH9	99.95	1
  MYL2	99.99	1
  MYL3	99.99	1
  MYL7	99.95	1
  MYOCD	99.99	1
  MYOM1	99.98	1
  MYOZ2	99.99	1
  NF1	99.88	1
  NFATC1	100.00	1
  NFIX	99.99	1
  NFKB1	99.80	1
  NID2	99.97	1
  NIPBL	99.34	1
  NKX2-1	100.00	1
  NKX2-5	99.75	1
  NKX2-6	100.00	1
  NME8	99.83	1
  NNMT	100.00	1
  NODAL	99.98	1
  NONO	99.94	1
  NOS3	93.73	1
  NOTCH1	99.98	1
  NOTCH2	99.03	1
  NOTCH3	99.99	1
  NPHP3	99.89	1
  NPHP4	99.98	1
  NPPA	100.00	1
  NR2F2	100.00	1
  NR4A2	99.97	1
  NRAS	99.66	1
  NRP1	99.99	1
  NRP2	99.98	1
  NSD1	99.98	1
  ODAD1	96.04	1
  ODAD2	98.19	1
  ODAD3	99.96	1
  ODAD4	99.85	1
  OTX2	100.00	1
  PACS1	99.96	1
  PAX3	100.00	1
  PCSK5	99.97	1
  PDGFC	99.97	1
  PDGFRA	99.94	1
  PDGFRB	99.99	1
  PDHX	100.00	1
  PIGA	99.81	1
  PIGL	99.98	1
  PIGN	99.91	1
  PIGT	99.95	1
  PITX2	99.98	1
  PKD1L1	99.84	1
  PLAGL1	99.96	1
  PLAT	99.99	1
  POU5F1	100.00	1
  PPARG	99.96	1
  PPARGC1A	99.82	1
  PPP3CA	99.84	1
  PRKACA	99.95	1
  PRKD1	99.96	1
  PROX1	99.98	1
  PRRX1	99.56	1
  PSEN1	100.00	1
  PSEN2	99.97	1
  PTEN	99.89	1
  PTK2	99.97	1
  PTP4A3	99.99	1
  PTPN11	99.98	1
  PUF60	100.00	1
  RAB23	99.97	1
  RAD21	99.91	1
  RAD51C	99.02	1
  RAF1	99.97	1
  RAI1	99.22	1
  RAI2	99.98	1
  RARB	99.99	1
  RARG	99.98	1
  RB1	99.84	1
  RBBP7	99.87	1
  RBL2	99.44	1
  RBM10	99.98	1
  RBM8A	99.37	1
  RELA	99.99	1
  RERE	99.94	1
  RET	99.97	1
  RGS19	99.88	1
  RIT1	99.78	1
  RNF20	99.93	1
  ROR2	99.99	1
  RPGR	94.45	1
  RPL11	99.81	1
  RPL15	31.77	1
  RPL26	30.55	1
  RPL35A	97.55	1
  RPL5	28.81	1
  RPS10	0.00	1
  RPS17	100.00	1
  RPS19	100.00	1
  RPS24	91.48	1
  RPS26	8.99	1
  RPS28	100.00	1
  RPS29	99.96	1
  RPS7	88.50	1
  RSPH1	99.87	1
  RSPH3	99.94	1
  RSPH4A	99.95	1
  RSPH9	99.99	1
  RYR2	99.94	1
  SALL1	100.00	1
  SALL4	100.00	1
  SCN5A	100.00	1
  SESN1	99.95	1
  SF3B4	99.65	1
  SGCA	100.00	1
  SH3PXD2B	100.00	1
  SHH	100.00	1
  SHOC2	99.96	1
  HHAT	99.98	1
  SLC19A1	99.99	1
  SLC25A4	100.00	1
  SLC2A10	100.00	1
  SLX4	100.00	1
  SMAD2	99.92	1
  SMAD3	99.99	1
  SMAD4	99.97	1
  SMAD6	100.00	1
  SMARCE1	99.87	1
  SMC1A	99.98	1
  SMC3	99.91	1
  SMG9	99.99	1
  SOS1	99.68	1
  SOS2	99.39	1
  SOX2	100.00	1
  SOX4	99.36	1
  SP1	99.98	1
  SPAG1	99.78	1
  SPATC1L	99.99	1
  SPECC1L	99.98	1
  SRCAP	99.99	1
  SRF	99.99	1
  STAT3	99.97	1
  STRA6	99.95	1
  SUZ12	98.58	1
  TAB2	99.75	1
  TBX1	99.95	1
  TBX2	99.97	1
  TBX20	99.99	1
  TBX3	100.00	1
  TBX5	99.98	1
  TBX6	99.99	1
  TCAP	100.00	1
  TCF21	100.00	1
  TCF3	100.00	1
  TCN2	100.00	1
  CRIPTO	99.82	1
  TEAD1	99.97	1
  TEK	99.98	1
  TFAP2A	100.00	1
  TFAP2B	99.98	1
  TFAP2C	100.00	1
  TGFB1	100.00	1
  TGFB2	99.87	1
  TGFB3	100.00	1
  TGFBR1	99.94	1
  TGFBR2	99.98	1
  TGIF1	100.00	1
  THBS1	100.00	1
  THBS4	100.00	1
  THOC5	99.90	1
  THRB	99.82	1
  DDR2	97.39	1
  TLL1	99.94	1
  TNFRSF11A	100.00	1
  TNFRSF1A	100.00	1
  TNNI3	100.00	1
  TNNT2	99.87	1
  TNR	99.80	1
  TP53	99.98	1
  TP73	100.00	1
  TPM1	99.92	1
  TRPM2	99.99	1
  TSR2	99.96	1
  TTN	99.15	1
  TWIST1	100.00	1
  UBE2B	99.94	1
  UBE2T	99.89	1
  USP44	99.86	1
  USP9X	99.84	1
  VCAN	99.99	1
  VDR	99.86	1
  VEGFA	99.99	1
  VEGFC	99.96	1
  WASHC5	99.98	1
  WDR5	100.00	1
  WNT11	100.00	1
  WT1	99.99	1
  YY1	100.00	1
  ZEB2	99.97	1
  ZFHX3	99.96	1
  ZFPM2	100.00	1
  ZIC3	99.90	1
  ZMYND10	99.99	1

• Periodic Fever (88 genes) - ULB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACP5	0.00	0	,
  ADAM17	0.00	0	,
  ADAR	0.00	0	,
  AP1S3	0.00	0	,
  CARD14	0.00	0	,
  CASP1	0.00	0	,
  CASP10	0.00	0	,
  CDC42	0.00	0	,
  CEBPE	0.00	0	,
  ADA2	0.00	0	,
  COPA	0.00	0	,
  RIGI	0.00	0	,
  DNASE2	0.00	0	,
  DOCK8	0.00	0	,
  ELF4	0.00	0	,
  ADGRE2	0.00	0	,
  F12	0.00	0	,
  OTULIN	0.00	0	,
  FAS	0.00	0	,
  FASLG	0.00	0	,
  FBLIM1	0.00	0	,
  HMOX1	0.00	0	,
  IFIH1	0.00	0	,
  IKBKG	0.00	0	,
  IL10	0.00	0	,
  IL10RA	0.00	0	,
  IL10RB	0.00	0	,
  IL1RN	0.00	0	,
  IL36RN	0.00	0	,
  LACC1	0.00	0	,
  LPIN2	0.00	0	,
  LSM11	0.00	0	,
  LYN	0.00	0	,
  MDFIC	0.00	0	,
  MEFV	0.00	0	,
  MVK	0.00	0	,
  NCKAP1L	0.00	0	,
  NCSTN	0.00	0	,
  NLRC4	0.00	0	,
  NLRP1	0.00	0	,
  NLRP12	0.00	0	,
  NLRP3	0.00	0	,
  NLRP7	0.00	0	,
  NOD2	0.00	0	,
  PLCG2	0.00	0	,
  POLA1	0.00	0	,
  POMP	0.00	0	,
  PSENEN	0.00	0	,
  PSMA3	0.00	0	,
  PSMB10	0.00	0	,
  PSMB4	0.00	0	,
  PSMB8	0.00	0	,
  PSMB9	0.00	0	,
  PSMG2	0.00	0	,
  PSTPIP1	0.00	0	,
  PTEN	0.00	0	,
  PYCARD	0.00	0	,
  RBCK1	0.00	0	,
  RELA	0.00	0	,
  RIPK1	0.00	0	,
  RNASEH2A	0.00	0	,
  RNASEH2B	0.00	0	,
  RNASEH2C	0.00	0	,
  RNF213	0.00	0	,
  RNF31	0.00	0	,
  RNU7-1	0.00	0	,
  SAMD9L	0.00	0	,
  SAMHD1	0.00	0	,
  SERPING1	0.00	0	,
  SH3BP2	0.00	0	,
  SHARPIN	0.00	0	,
  SLC29A3	0.00	0	,
  STAT2	0.00	0	,
  SYK	0.00	0	,
  STING1	0.00	0	,
  TNFAIP3	0.00	0	,
  TNFRSF11A	0.00	0	,
  TNFRSF1A	0.00	0	,
  TNFRSF9	0.00	0	,
  TRAP1	0.00	0	,
  TREX1	0.00	0	,
  TRNT1	0.00	0	,
  UBA1	0.00	0	,
  UNC13B	0.00	0	,
  USP18	0.00	0	,
  WAS	0.00	0	,
  WDR1	0.00	0	,
  XIAP	0.00	0	,

• Primary immune deficiencies (444 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACD	95.00	0	NM_001082486.1/ interpretable range CS1>95%
  ACP5	95.00	0	NM_001111035.2/ interpretable range CS1>95%
  ACTB	95.00	0	NM_001101.4/ interpretable range CS1>95%
  ADA	95.00	0	NM_000022.3/ interpretable range CS1>95%
  ADA2	95.00	1	NM_001282225.1/ interpretable range CS1>95%
  ADAM17	95.00	0	NM_003183.6/ interpretable range CS1>95%
  ADAR	95.00	0	NM_001111.5/ interpretable range CS1>95%
  AICDA	95.00	0	NM_020661.3/ interpretable range CS1>95%
  AIRE	95.00	0	NM_000383.3/ interpretable range CS1>95%
  AK2	95.00	0	NM_001625.3/ interpretable range CS1>95%
  ALPI	95.00	0	NM_001631.4/ interpretable range CS1>95%
  AP1S3	95.00	0	NM_001039569.1/ interpretable range CS1>95%
  AP3B1	95.00	0	NM_003664.4/ interpretable range CS1>95%
  AP3D1	95.00	0	NM_001261826.3/ interpretable range CS1>95%
  APOL1	95.00	0	NM_003661.3/ interpretable range CS1>95%
  ARPC1B	95.00	0	NM_005720.4/ interpretable range CS1>95%
  ATAD3A	95.00	0	NM_001170535.2/ interpretable range CS1>95%
  ATG4A	95.00	0	NM_052936.4/ interpretable range CS1>95%
  ATM	95.00	0	NM_000051.3/ interpretable range CS1>95%
  ATP6AP1	95.00	0	NM_001183.5/ interpretable range CS1>95%
  ATP6V0A2	95.00	0	NM_012463.3/ interpretable range CS1>95%
  B2M	95.00	0	NM_004048.2/ interpretable range CS1>95%
  BACH2	95.00	0	NM_021813.3/ interpretable range CS1>95%
  BCL10	95.00	0	NM_003921.5/ interpretable range CS1>95%
  BCL11B	95.00	0	NM_138576.3/ interpretable range CS1>95%
  BLM	95.00	0	NM_000057.3/ interpretable range CS1>95%
  BLNK	95.00	0	NM_013314.3/ interpretable range CS1>95%
  BPIFA1	95.00	0	NM_016583.3/ interpretable range CS1>95%
  BTK	95.00	0	NM_000061.2/ interpretable range CS1>95%
  C1QA	95.00	0	NM_015991.3/ interpretable range CS1>95%
  C1QB	95.00	0	NM_000491.4/ interpretable range CS1>95%
  C1QC	95.00	0	NM_172369.4/ interpretable range CS1>95%
  C1R	95.00	0	NM_001733.6/ interpretable range CS1>95%
  C1S	95.00	0	NM_201442.3/ interpretable range CS1>95%
  C2	95.00	0	NM_000063.5/ interpretable range CS1>95%
  C2orf69	95.00	0	NM_153689.5/ interpretable range CS1>95%
  C3	95.00	0	NM_000064.3/ interpretable range CS1>95%
  C5	95.00	0	NM_001735.2/ interpretable range CS1>95%
  C6	95.00	0	NM_000065.3/ interpretable range CS1>95%
  C7	95.00	0	NM_000587.3/ interpretable range CS1>95%
  C8A	95.00	0	NM_000562.2/ interpretable range CS1>95%
  C8B	95.00	0	NM_000066.3/ interpretable range CS1>95%
  C9	95.00	0	NM_001737.4/ interpretable range CS1>95%
  CARD11	95.00	0	NM_032415.5/ interpretable range CS1>95%
  CARD14	95.00	0	NM_024110.4/ interpretable range CS1>95%
  CARD9	95.00	0	NM_052813.4/ interpretable range CS1>95%
  CARMIL2	95.00	0	NM_001013838.2/ interpretable range CS1>95%
  CASP10	95.00	0	NM_032977.3/ interpretable range CS1>95%
  CASP8	95.00	0	NM_001228.4/ interpretable range CS1>95%
  CCBE1	95.00	0	NM_133459.4/ interpretable range CS1>95%
  CD19	95.00	0	NM_001770.5/ interpretable range CS1>95%
  CD247	95.00	0	NM_198053.2/ interpretable range CS1>95%
  CD27	95.00	0	NM_001242.4/ interpretable range CS1>95%
  CD28	95.00	0	NM_006139.3/ interpretable range CS1>95%
  CD3D	95.00	0	NM_000732.4/ interpretable range CS1>95%
  CD3E	95.00	0	NM_000733.3/ interpretable range CS1>95%
  CD3G	95.00	0	NM_000073.2/ interpretable range CS1>95%
  CD4	95.00	0	NM_000616.4/ interpretable range CS1>95%
  CD40	95.00	0	NM_001250.5/ interpretable range CS1>95%
  CD40LG	95.00	0	NM_000074.2/ interpretable range CS1>95%
  CD46	95.00	0	NM_002389.4/ interpretable range CS1>95%
  CD48	95.00	0	NM_001778.3/ interpretable range CS1>95%
  CD55	95.00	0	NM_000574.4/ interpretable range CS1>95%
  CD59	95.00	0	NM_203330.2/ interpretable range CS1>95%
  CD70	95.00	0	NM_001252.4/ interpretable range CS1>95%
  CD79A	95.00	0	NM_001783.3/ interpretable range CS1>95%
  CD79B	95.00	0	NM_000626.3/ interpretable range CS1>95%
  CD81	95.00	0	NM_004356.3/ interpretable range CS1>95%
  CD8A	95.00	0	NM_001768.6/ interpretable range CS1>95%
  CDC42	95.00	0	NM_001791.3/ interpretable range CS1>95%
  CDCA7	95.00	0	NM_031942.4/ interpretable range CS1>95%
  CDH17	95.00	0	NM_004063.3/ interpretable range CS1>95%
  CEBPE	95.00	0	NM_001805.3/ interpretable range CS1>95%
  CFB	95.00	0	NM_001710.5/ interpretable range CS1>95%
  CFD	95.00	0	NM_001928.3/ interpretable range CS1>95%
  CFH	95.00	0	NM_000186.3/ interpretable range CS1>95%
  CFHR1	95.00	0	NM_002113.2/ interpretable range CS1>95%
  CFHR2	95.00	0	NM_005666.3/ interpretable range CS1>95%
  CFHR3	95.00	0	NM_021023.5/ interpretable range CS1>95%
  CFHR4	95.00	0	NM_001201550.2/ interpretable range CS1>95%
  CFHR5	95.00	0	NM_030787.3/ interpretable range CS1>95%
  CFI	95.00	0	NM_000204.4/ interpretable range CS1>95%
  CFP	95.00	0	NM_002621.2/ interpretable range CS1>95%
  CFTR	95.00	0	NM_000492.3/ interpretable range CS1>95%
  CHD7	95.00	0	NM_017780.3/ interpretable range CS1>95%
  CHUK	95.00	0	NM_001278.4/ interpretable range CS1>95%
  CIB1	95.00	0	NM_006384.3/ interpretable range CS1>95%
  CIITA	95.00	0	NM_000246.3/ interpretable range CS1>95%
  CLCN7	95.00	0	NM_001287.5/ interpretable range CS1>95%
  CLPB	95.00	0	NM_030813.5/ interpretable range CS1>95%
  COPA	95.00	0	NM_004371.3/ interpretable range CS1>95%
  COPG1	95.00	0	NM_016128.3/ interpretable range CS1>95%
  CORO1A	95.00	0	NM_007074.3/ interpretable range CS1>95%
  CR2	95.00	0	NM_001006658.2/ interpretable range CS1>95%
  CRACR2A	95.00	0	NM_001144958.1/ interpretable range CS1>95%
  CSF2RB	95.00	0	NM_000395.2/ interpretable range CS1>95%
  CSF3R	95.00	0	NM_000760.3/ interpretable range CS1>95%
  CTC1	95.00	0	NM_025099.5/ interpretable range CS1>95%
  CTLA4	95.00	0	NM_005214.4/ interpretable range CS1>95%
  CTNNBL1	95.00	0	NM_030877.4/ interpretable range CS1>95%
  CTPS1	95.00	0	NM_001905.3/ interpretable range CS1>95%
  CTSC	95.00	0	NM_001814.5/ interpretable range CS1>95%
  CXCR2	95.00	0	NM_001557.3/ interpretable range CS1>95%
  CXCR4	95.00	0	NM_003467.2/ interpretable range CS1>95%
  CYBA	95.00	0	NM_000101.3/ interpretable range CS1>95%
  CYBB	95.00	1	NM_000397.3/ interpretable range CS1>95%
  CYBC1	95.00	0	NM_001033046.3/ interpretable range CS1>95%
  DBR1	95.00	0	NM_016216.3/ interpretable range CS1>95%
  DCLRE1B	95.00	0	NM_022836.3/ interpretable range CS1>95%
  DCLRE1C	95.00	0	NM_001033855.2/ interpretable range CS1>95%
  DEF6	95.00	0	NM_022047.3/ interpretable range CS1>95%
  DGAT1	95.00	0	NM_012079.5/ interpretable range CS1>95%
  DIAPH1	95.00	0	NM_005219.4/ interpretable range CS1>95%
  DKC1	95.00	0	NM_001363.4/ interpretable range CS1>95%
  DNAJC21	95.00	0	NM_001012339.3/ interpretable range CS1>95%
  DNASE1	95.00	0	NM_005223.3/ interpretable range CS1>95%
  DNASE1L3	95.00	0	NM_004944.3/ interpretable range CS1>95%
  DNASE2	95.00	0	NM_001375.2/ interpretable range CS1>95%
  DNMT3B	95.00	0	NM_006892.3/ interpretable range CS1>95%
  DOCK2	95.00	0	NM_004946.2/ interpretable range CS1>95%
  DOCK8	95.00	0	NM_203447.3/ interpretable range CS1>95%
  DSG1	95.00	0	NM_001942.3/ interpretable range CS1>95%
  DTNBP1	95.00	0	NM_032122.4/ interpretable range CS1>95%
  EFL1	95.00	0	NM_024580.5/ interpretable range CS1>95%
  ELANE	95.00	0	NM_001972.3/ interpretable range CS1>95%
  ELF4	95.00	0	NM_001421.3/ interpretable range CS1>95%
  EPG5	95.00	0	NM_020964.2/ interpretable range CS1>95%
  ERBIN	95.00	0	NM_001253697.1/ interpretable range CS1>95%
  EXTL3	95.00	0	NM_001440.3/ interpretable range CS1>95%
  FADD	95.00	0	NM_003824.3/ interpretable range CS1>95%
  FAS	95.00	0	NM_000043.5/ interpretable range CS1>95%
  FASLG	95.00	0	NM_000639.2/ interpretable range CS1>95%
  FAT4	95.00	0	NM_024582.4/ interpretable range CS1>95%
  FCGR3A	95.00	0	NM_000569.7/ interpretable range CS1>95%
  FCHO1	95.00	0	NM_015122.2/ interpretable range CS1>95%
  FCN3	95.00	0	NM_003665.3/ interpretable range CS1>95%
  FERMT1	95.00	0	NM_017671.4/ interpretable range CS1>95%
  FERMT3	95.00	0	NM_031471.5/ interpretable range CS1>95%
  FNIP1	95.00	0	NM_133372.2/ interpretable range CS1>95%
  FOXN1	95.00	0	NM_003593.2/ interpretable range CS1>95%
  FOXP3	95.00	0	NM_014009.3/ interpretable range CS1>95%
  G6PC3	95.00	0	NM_138387.3/ interpretable range CS1>95%
  G6PD	95.00	0	NM_001042351.2/ interpretable range CS1>95%
  GATA2	95.00	1	NM_032638.4/ interpretable range CS1>95%
  GFI1	95.00	0	NM_005263.4/ interpretable range CS1>95%
  GIMAP5	95.00	0	NM_018384.4/ interpretable range CS1>95%
  GIMAP6	95.00	0	NM_001244072.1/ interpretable range CS1>95%
  GINS1	95.00	0	NM_021067.4/ interpretable range CS1>95%
  GUCY2C	95.00	0	NM_004963.3/ interpretable range CS1>95%
  HAVCR2	95.00	0	NM_032782.4/ interpretable range CS1>95%
  HAX1	95.00	0	NM_006118.3/ interpretable range CS1>95%
  HCK	95.00	0	NM_002110.3/ interpretable range CS1>95%
  HELLS	95.00	0	NM_018063.4/ interpretable range CS1>95%
  HTRA2	95.00	0	NM_013247.4/ interpretable range CS1>95%
  HYOU1	95.00	0	NM_006389.4/ interpretable range CS1>95%
  ICOS	95.00	0	NM_012092.3/ interpretable range CS1>95%
  IFIH1	95.00	0	NM_022168.3/ interpretable range CS1>95%
  IFNAR1	95.00	0	NM_000629.2/ interpretable range CS1>95%
  IFNAR2	95.00	0	NM_207585.2/ interpretable range CS1>95%
  IFNG	95.00	0	NM_000619.2/ interpretable range CS1>95%
  IFNGR1	95.00	0	NM_000416.2/ interpretable range CS1>95%
  IFNGR2	95.00	0	NM_005534.3/ interpretable range CS1>95%
  IGLL1	95.00	0	NM_020070.3/ interpretable range CS1>95%
  IKBKB	95.00	0	NM_001556.2/ interpretable range CS1>95%
  IKBKG	95.00	0	NM_001099857.2/ interpretable range CS1>95%
  IKZF1	95.00	0	NM_006060.6/ interpretable range CS1>95%
  IKZF2	95.00	0	NM_001079526.1/ interpretable range CS1>95%
  IKZF3	95.00	0	NM_012481.4/ interpretable range CS1>95%
  IL10	95.00	0	NM_000572.2/ interpretable range CS1>95%
  IL10RA	95.00	0	NM_001558.3/ interpretable range CS1>95%
  IL10RB	95.00	0	NM_000628.4/ interpretable range CS1>95%
  IL12B	95.00	0	NM_002187.2/ interpretable range CS1>95%
  IL12RB1	95.00	0	NM_005535.2/ interpretable range CS1>95%
  IL12RB2	95.00	0	NM_001559.2/ interpretable range CS1>95%
  IL17F	95.00	0	NM_052872.3/ interpretable range CS1>95%
  IL17RA	95.00	0	NM_014339.6/ interpretable range CS1>95%
  IL17RC	95.00	0	NM_153461.3/ interpretable range CS1>95%
  IL18BP	95.00	0	NM_173042.2/ interpretable range CS1>95%
  IL1RN	95.00	0	NM_173841.2/ interpretable range CS1>95%
  IL21	95.00	0	NM_021803.3/ interpretable range CS1>95%
  IL21R	95.00	0	NM_021798.3/ interpretable range CS1>95%
  IL23R	95.00	0	NM_144701.2/ interpretable range CS1>95%
  IL2RA	95.00	0	NM_000417.2/ interpretable range CS1>95%
  IL2RB	95.00	0	NM_000878.4/ interpretable range CS1>95%
  IL2RG	95.00	0	NM_000206.2/ interpretable range CS1>95%
  IL36RN	95.00	0	NM_012275.2/ interpretable range CS1>95%
  IL37	95.00	0	NM_014439.3/ interpretable range CS1>95%
  IL6R	95.00	0	NM_000565.3/ interpretable range CS1>95%
  IL6ST	95.00	0	NM_002184.3/ interpretable range CS1>95%
  IL7	95.00	0	NM_000880.3/ interpretable range CS1>95%
  IL7R	95.00	0	NM_002185.4/ interpretable range CS1>95%
  INO80	95.00	0	NM_017553.2/ interpretable range CS1>95%
  IRAK1	95.00	0	NM_001569.3/ interpretable range CS1>95%
  IRAK4	95.00	0	NM_016123.3/ interpretable range CS1>95%
  IRF2BP2	95.00	0	NM_182972.2/ interpretable range CS1>95%
  IRF3	95.00	0	NM_001571.5/ interpretable range CS1>95%
  IRF4	95.00	0	NM_002460.3/ interpretable range CS1>95%
  IRF7	95.00	0	NM_004031.2/ interpretable range CS1>95%
  IRF8	95.00	0	NM_002163.2/ interpretable range CS1>95%
  IRF9	95.00	0	NM_006084.4/ interpretable range CS1>95%
  ISG15	95.00	0	NM_005101.3/ interpretable range CS1>95%
  ITCH	95.00	0	NM_031483.6/ interpretable range CS1>95%
  ITGB2	95.00	0	NM_000211.4/ interpretable range CS1>95%
  ITK	95.00	0	NM_005546.3/ interpretable range CS1>95%
  ITPKB	95.00	0	NM_002221.3/ interpretable range CS1>95%
  ITPKC	95.00	0	NM_025194.2/ interpretable range CS1>95%
  ITPR3	95.00	0	NM_002224.3/ interpretable range CS1>95%
  JAGN1	95.00	0	NM_032492.3/ interpretable range CS1>95%
  JAK1	95.00	0	NM_002227.3/ interpretable range CS1>95%
  JAK3	95.00	0	NM_000215.3/ interpretable range CS1>95%
  KARS1	95.00	0	NM_001130089.1/ interpretable range CS1>95%
  KMT2A	95.00	0	NM_001197104.1/ interpretable range CS1>95%
  KMT2D	95.00	0	NM_003482.3/ interpretable range CS1>95%
  KPNA2	95.00	0	NM_001320611.1/ interpretable range CS1>95%
  KRAS	95.00	0	NM_004985.4/ interpretable range CS1>95%
  LACC1	95.00	0	NM_001128303.2/ interpretable range CS1>95%
  LAMTOR2	95.00	0	NM_014017.3/ interpretable range CS1>95%
  LAT	95.00	0	NM_001014987.1/ interpretable range CS1>95%
  LCK	95.00	0	NM_001042771.2/ interpretable range CS1>95%
  LCP2	95.00	0	NM_005565.4/ interpretable range CS1>95%
  LIG1	95.00	0	NM_000234.2/ interpretable range CS1>95%
  LIG4	95.00	0	NM_002312.3/ interpretable range CS1>95%
  LPIN2	95.00	0	NM_014646.2/ interpretable range CS1>95%
  LRBA	95.00	0	NM_006726.4/ interpretable range CS1>95%
  LRRC32	95.00	0	NM_005512.2/ interpretable range CS1>95%
  LRRC8A	95.00	0	NM_019594.3/ interpretable range CS1>95%
  LSM11	95.00	0	NM_173491.3/ interpretable range CS1>95%
  LYST	95.00	0	NM_000081.3/ interpretable range CS1>95%
  MAGT1	95.00	0	NM_032121.5/ interpretable range CS1>95%
  MALT1	95.00	0	NM_006785.3/ interpretable range CS1>95%
  MAN2B2	95.00	0	NM_015274.2/ interpretable range CS1>95%
  MAP1LC3B2	95.00	0	NM_001085481.2/ interpretable range CS1>95%
  MAP3K14	95.00	0	NM_003954.4/ interpretable range CS1>95%
  MAPK8	95.00	0	NM_139049.3/ interpretable range CS1>95%
  MASP2	95.00	0	NM_006610.3/ interpretable range CS1>95%
  MBL2	95.00	0	NM_000242.2/ interpretable range CS1>95%
  MCM10	95.00	0	NM_182751.2/ interpretable range CS1>95%
  MCM4	95.00	0	NM_005914.3/ interpretable range CS1>95%
  MEFV	95.00	0	NM_000243.2/ interpretable range CS1>95%
  MOGS	95.00	0	NM_020831.4/ interpretable range CS1>95%
  MPO	95.00	0	NM_006302.2/ interpretable range CS1>95%
  MRTFA	95.00	0	NM_000250.1/ interpretable range CS1>95%
  MS4A1	95.00	0	NM_152866.2/ interpretable range CS1>95%
  MSN	95.00	0	NM_002444.2/ interpretable range CS1>95%
  MTHFD1	95.00	0	NM_005956.3/ interpretable range CS1>95%
  MVK	95.00	0	NM_000431.3/ interpretable range CS1>95%
  MYD88	95.00	0	NM_002468.4/ interpretable range CS1>95%
  MYO5B	95.00	0	NM_001080467.2/ interpretable range CS1>95%
  MYSM1	95.00	0	NM_001085487.2/ interpretable range CS1>95%
  NBAS	95.00	0	NM_015909.3/ interpretable range CS1>95%
  NCF1	95.00	0	NM_000265.5/ interpretable range CS1>95%
  NCF2	95.00	0	NM_000433.3/ interpretable range CS1>95%
  NCF4	95.00	0	NM_013416.3/ interpretable range CS1>95%
  NCKAP1	95.00	0	NM_205842.2/ interpretable range CS1>95%
  NCKAP1L	95.00	0	NM_005337.4/ interpretable range CS1>95%
  NCSTN	95.00	0	NM_015331.2/ interpretable range CS1>95%
  NFAT5	95.00	0	NM_138714.3/ interpretable range CS1>95%
  NFE2L2	95.00	0	NM_006164.4/ interpretable range CS1>95%
  NFKB1	95.00	0	NM_003998.3/ interpretable range CS1>95%
  NFKB2	95.00	0	NM_001077494.3/ interpretable range CS1>95%
  NFKBIA	95.00	0	NM_020529.2/ interpretable range CS1>95%
  NHEJ1	95.00	0	NM_024782.2/ interpretable range CS1>95%
  NHP2	95.00	0	NM_017838.3/ interpretable range CS1>95%
  NLRC4	95.00	0	NM_021209.4/ interpretable range CS1>95%
  NLRP1	95.00	0	NM_033004.3/ interpretable range CS1>95%
  NLRP12	95.00	0	NM_144687.3/ interpretable range CS1>95%
  NLRP3	95.00	0	NM_004895.4/ interpretable range CS1>95%
  NOD2	95.00	0	NM_022162.2/ interpretable range CS1>95%
  NOP10	95.00	0	NM_018648.3/ interpretable range CS1>95%
  NOS2	95.00	0	NM_000625.4/ interpretable range CS1>95%
  NRAS	95.00	0	NM_002524.4/ interpretable range CS1>95%
  NSMCE3	95.00	0	NM_138704.3/ interpretable range CS1>95%
  OAS1	95.00	0	NM_032790.3/ interpretable range CS1>95%
  ORAI1	95.00	0	NM_014028.3/ interpretable range CS1>95%
  OSTM1	95.00	0	NM_138348.5/ interpretable range CS1>95%
  OTULIN	95.00	0	NM_002582.3/ interpretable range CS1>95%
  PARN	95.00	0	NM_006192.4/ interpretable range CS1>95%
  PAX1	95.00	0	NM_005018.2/ interpretable range CS1>95%
  PDCD1	95.00	0	NM_000285.3/ interpretable range CS1>95%
  PEPD	95.00	0	NM_001199917.1/ interpretable range CS1>95%
  PGM3	95.00	0	NM_058004.3/ interpretable range CS1>95%
  PI4KA	95.00	0	NM_005026.4/ interpretable range CS1>95%
  PIK3CD	95.00	0	NM_002649.3/ interpretable range CS1>95%
  PIK3CG	95.00	0	NM_181523.2/ interpretable range CS1>95%
  PIK3R1	95.00	0	NM_002661.4/ interpretable range CS1>95%
  PLCG2	95.00	0	NM_014798.2/ interpretable range CS1>95%
  PLEKHM1	95.00	0	NM_000535.6/ interpretable range CS1>95%
  PMS2	95.00	0	NM_016937.3/ interpretable range CS1>95%
  PNP	95.00	0	NM_002691.3/ interpretable range CS1>95%
  POLA1	95.00	0	NM_006230.3/ interpretable range CS1>95%
  POLD1	95.00	0	NM_006231.3/ interpretable range CS1>95%
  POLD2	95.00	0	NM_002692.3/ interpretable range CS1>95%
  POLE	95.00	0	NM_007055.3/ interpretable range CS1>95%
  POLE2	95.00	0	NM_001303456.1/ interpretable range CS1>95%
  POLR3A	95.00	0	NM_001282526.1/ interpretable range CS1>95%
  POLR3C	95.00	0	NM_015932.5/ interpretable range CS1>95%
  POLR3E	95.00	0	NM_006235.2/ interpretable range CS1>95%
  POLR3F	95.00	0	NM_001083116.2/ interpretable range CS1>95%
  POMP	95.00	0	NM_015932.6/ interpretable range CS1>95%
  POU2AF1	95.00	0	NM_006254.3/ interpretable range CS1>95%
  PRF1	95.00	0	NM_006904.6/ interpretable range CS1>95%
  PRKCD	95.00	0	NM_172341.3/ interpretable range CS1>95%
  PRKDC	95.00	0	NM_002788.3/ interpretable range CS1>95%
  PSENEN	95.00	0	NM_002801.3/ interpretable range CS1>95%
  PSMA3	95.00	0	NM_002796.2/ interpretable range CS1>95%
  PSMB10	95.00	0	NM_148919.3/ interpretable range CS1>95%
  PSMB4	95.00	0	NM_002800.4/ interpretable range CS1>95%
  PSMB8	95.00	0	NM_147163.1/ interpretable range CS1>95%
  PSMB9	95.00	0	NM_003978.4/ interpretable range CS1>95%
  PSMG2	95.00	0	NM_000314.6/ interpretable range CS1>95%
  PSTPIP1	95.00	0	NM_002828.3/ interpretable range CS1>95%
  PTEN	95.00	0	NM_002838.4/ interpretable range CS1>95%
  PTPN2	95.00	0	NM_004580.4/ interpretable range CS1>95%
  PTPRC	95.00	0	NM_002872.4/ interpretable range CS1>95%
  RAB27A	95.00	0	NM_000448.2/ interpretable range CS1>95%
  RAC2	95.00	0	NM_000536.3/ interpretable range CS1>95%
  RAG1	95.00	0	NM_006267.4/ interpretable range CS1>95%
  RAG2	95.00	0	NM_005739.3/ interpretable range CS1>95%
  RANBP2	95.00	0	NM_031229.3/ interpretable range CS1>95%
  RASGRP1	95.00	0	NM_172071.3/ interpretable range CS1>95%
  RBCK1	95.00	0	NM_004260.3/ interpretable range CS1>95%
  RC3H1	95.00	0	NM_002908.3/ interpretable range CS1>95%
  RECQL4	95.00	0	NM_021975.3/ interpretable range CS1>95%
  REL	95.00	0	NM_006509.3/ interpretable range CS1>95%
  RELA	95.00	0	NM_000449.3/ interpretable range CS1>95%
  RELB	95.00	0	NM_003721.3/ interpretable range CS1>95%
  RFX5	95.00	0	NM_000538.3/ interpretable range CS1>95%
  RFXANK	95.00	0	NM_001665.3/ interpretable range CS1>95%
  RFXAP	95.00	0	NM_004310.4/ interpretable range CS1>95%
  RHOG	95.00	0	NM_003804.5/ interpretable range CS1>95%
  RHOH	95.00	0	NM_006397.2/ interpretable range CS1>95%
  RIGI	95.00	0	NM_014314.4/ interpretable range CS1>95%
  RIPK1	95.00	0	NM_024570.3/ interpretable range CS1>95%
  RNASEH2A	95.00	0	NM_032193.3/ interpretable range CS1>95%
  RNASEH2B	95.00	0	NM_152617.3/ interpretable range CS1>95%
  RNASEH2C	95.00	0	NM_017999.4/ interpretable range CS1>95%
  RNF168	95.00	0	NM_005060.3/ interpretable range CS1>95%
  RNF31	95.00	0	NM_002945.4/ interpretable range CS1>95%
  RORC	95.00	0	NM_002295.5/ interpretable range CS1>95%
  RPA1	95.00	0	NM_002945.5/ interpretable range CS1>95%
  RPSA	95.00	0	NM_032957.4/ interpretable range CS1>95%
  RTEL1	95.00	0	NM_017654.3/ interpretable range CS1>95%
  SAMD9	95.00	0	NM_152703.4/ interpretable range CS1>95%
  SAMD9L	95.00	0	NM_015474.3/ interpretable range CS1>95%
  SAMHD1	95.00	0	NM_018990.3/ interpretable range CS1>95%
  SASH3	95.00	0	NM_016038.3/ interpretable range CS1>95%
  SBDS	95.00	0	NM_013336.3/ interpretable range CS1>95%
  SEC61A1	95.00	0	NM_006378.3/ interpretable range CS1>95%
  SEMA4D	95.00	0	NM_000062.2/ interpretable range CS1>95%
  SERPING1	95.00	1	NM_002351.4/ interpretable range CS1>95%
  SH2D1A	95.00	0	NM_031892.2/ interpretable range CS1>95%
  SH3KBP1	95.00	0	NM_006929.4/ interpretable range CS1>95%
  SKIC2	95.00	0	NM_006929.5/ interpretable range CS1>95%
  SKIC3	95.00	0	NM_014639.4/ interpretable range CS1>95%
  SLC11A1	95.00	0	NM_018344.5/ interpretable range CS1>95%
  SLC29A3	95.00	0	NM_018389.4/ interpretable range CS1>95%
  SLC35C1	95.00	0	NM_001164277.1/ interpretable range CS1>95%
  SLC37A4	95.00	0	NM_006979.2/ interpretable range CS1>95%
  SLC39A7	95.00	0	NM_080669.5/ interpretable range CS1>95%
  SLC46A1	95.00	0	NM_001126106.2/ interpretable range CS1>95%
  SLC7A7	95.00	0	NM_014140.3/ interpretable range CS1>95%
  SMARCAL1	95.00	0	NM_001098426.1/ interpretable range CS1>95%
  SMARCD2	95.00	0	NR_002967.1/ interpretable range CS1>95%
  SNORA31	95.00	0	NM_001199835.1/ interpretable range CS1>95%
  SNX10	95.00	0	NM_003745.1/ interpretable range CS1>95%
  SOCS1	95.00	0	NM_004509.3/ interpretable range CS1>95%
  SP110	95.00	0	NM_004509.5/ interpretable range CS1>95%
  SPI1	95.00	0	NM_001080547.1/ interpretable range CS1>95%
  SPINK5	95.00	0	NM_006846.3/ interpretable range CS1>95%
  SPPL2A	95.00	0	NM_032802.3/ interpretable range CS1>95%
  SRP54	95.00	0	NM_003136.3/ interpretable range CS1>95%
  STAT1	95.00	0	NM_007315.3/ interpretable range CS1>95%
  STAT2	95.00	0	NM_005419.3/ interpretable range CS1>95%
  STAT3	95.00	0	NM_139276.2/ interpretable range CS1>95%
  STAT4	95.00	0	NM_003151.3/ interpretable range CS1>95%
  STAT5B	95.00	0	NM_012448.3/ interpretable range CS1>95%
  STIM1	95.00	0	NM_003156.3/ interpretable range CS1>95%
  STING1	95.00	0	NM_006282.4/ interpretable range CS1>95%
  STK4	95.00	0	NM_024928.4/ interpretable range CS1>95%
  STN1	95.00	0	NM_003764.3/ interpretable range CS1>95%
  STX11	95.00	0	NM_006949.3/ interpretable range CS1>95%
  STXBP2	95.00	0	NM_007269.3/ interpretable range CS1>95%
  STXBP3	95.00	0	NM_003177.6/ interpretable range CS1>95%
  SYK	95.00	0	NM_000593.5/ interpretable range CS1>95%
  TAFAZZIN	95.00	0	NM_000116.5/ interpretable range CS1>95%
  TAP1	95.00	0	NM_001290043.1/ interpretable range CS1>95%
  TAP2	95.00	0	NM_003190.4/ interpretable range CS1>95%
  TAPBP	95.00	0	NM_000116.4/ interpretable range CS1>95%
  TBK1	95.00	0	NM_013254.3/ interpretable range CS1>95%
  TBX1	95.00	0	NM_080647.1/ interpretable range CS1>95%
  TBX21	95.00	0	NM_013351.1/ interpretable range CS1>95%
  TCF3	95.00	0	NM_003200.4/ interpretable range CS1>95%
  TCIRG1	95.00	0	NM_006019.3/ interpretable range CS1>95%
  TCN2	95.00	0	NM_000355.3/ interpretable range CS1>95%
  TERT	95.00	0	NM_198253.2/ interpretable range CS1>95%
  TET2	95.00	0	NM_001127208.2/ interpretable range CS1>95%
  TFRC	95.00	0	NM_003234.3/ interpretable range CS1>95%
  TGFB1	95.00	0	NM_000660.6/ interpretable range CS1>95%
  TGFBR1	95.00	0	NM_004612.3/ interpretable range CS1>95%
  TGFBR2	95.00	0	NM_003242.5/ interpretable range CS1>95%
  THBD	95.00	0	NM_000361.2/ interpretable range CS1>95%
  TICAM1	95.00	0	NM_182919.3/ interpretable range CS1>95%
  TINF2	95.00	0	NM_001099274.1/ interpretable range CS1>95%
  TLR3	95.00	0	NM_003265.2/ interpretable range CS1>95%
  TLR7	95.00	0	NM_016562.3/ interpretable range CS1>95%
  TLR8	95.00	0	NM_138636.5/ interpretable range CS1>95%
  TMC6	95.00	0	NM_007267.7/ interpretable range CS1>95%
  TMC8	95.00	0	NM_152468.4/ interpretable range CS1>95%
  TNFAIP3	95.00	0	NM_198282.3/ interpretable range CS1>95%
  TNFRSF11A	95.00	0	NM_006290.3/ interpretable range CS1>95%
  TNFRSF13B	95.00	0	NM_003839.3/ interpretable range CS1>95%
  TNFRSF13C	95.00	0	NM_012452.2/ interpretable range CS1>95%
  TNFRSF1A	95.00	0	NM_052945.3/ interpretable range CS1>95%
  TNFRSF4	95.00	0	NM_001065.3/ interpretable range CS1>95%
  TNFRSF9	95.00	0	NM_003327.3/ interpretable range CS1>95%
  TNFSF11	95.00	0	NM_001561.5/ interpretable range CS1>95%
  TNFSF12	95.00	0	NM_003701.3/ interpretable range CS1>95%
  TNFSF13	95.00	0	NM_003809.2/ interpretable range CS1>95%
  TOP2B	95.00	0	NM_003808.3/ interpretable range CS1>95%
  TPP2	95.00	0	NM_001068.3/ interpretable range CS1>95%
  TRAF3	95.00	0	NM_003291.3/ interpretable range CS1>95%
  TRAF3IP2	95.00	0	NM_003300.3/ interpretable range CS1>95%
  TREX1	95.00	0	NM_147686.3/ interpretable range CS1>95%
  TRIM22	95.00	0	NM_033629.5/ interpretable range CS1>95%
  TRNT1	95.00	0	NM_006074.4/ interpretable range CS1>95%
  TTC7A	95.00	0	NM_014639.3/ interpretable range CS1>95%
  TYK2	95.00	0	NM_020458.3/ interpretable range CS1>95%
  UBA1	95.00	0	NM_003331.4/ interpretable range CS1>95%
  UNC13D	95.00	0	NM_003334.3/ interpretable range CS1>95%
  UNC93B1	95.00	0	NM_199242.2/ interpretable range CS1>95%
  UNG	95.00	0	NM_030930.3/ interpretable range CS1>95%
  USB1	95.00	0	NM_080911.2/ interpretable range CS1>95%
  USP18	95.00	0	NM_024598.3/ interpretable range CS1>95%
  VPS13B	95.00	0	NM_017414.3/ interpretable range CS1>95%
  VPS45	95.00	0	NM_017890.4/ interpretable range CS1>95%
  WAS	95.00	0	NM_007259.5/ interpretable range CS1>95%
  WDR1	95.00	0	NM_000377.2/ interpretable range CS1>95%
  WIPF1	95.00	0	NM_017491.4/ interpretable range CS1>95%
  WRAP53	95.00	0	NM_001077269.1/ interpretable range CS1>95%
  XIAP	95.00	1	NM_001167.3/ interpretable range CS1>95%
  ZAP70	95.00	0	NM_001079.3/ interpretable range CS1>95%
  ZBTB24	95.00	0	NM_014797.2/ interpretable range CS1>95%
  ZNF341	95.00	0	NM_032819.4/ interpretable range CS1>95%
  ZNFX1	95.00	0	NM_021035.2/ interpretable range CS1>95%

• Primary immune deficiencies - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACD	100.00	1
  ACP5	100.00	1
  ACTB	100.00	1
  ADA	99.97	1
  ADA2	100.00	1
  ADAM17	99.94	1
  ADAR	99.84	1
  AICDA	99.94	1
  AIRE	99.95	1
  AK2	99.39	1
  ALPI	100.00	1
  AP1S3	100.00	1
  AP3B1	99.89	1
  AP3D1	100.00	1
  APOL1	99.99	1
  ARHGEF1	99.97	1
  ARPC1B	99.92	1
  ATG16L1	99.95	1
  ATG4A	99.86	1
  ATM	99.83	1
  ATP2A2	99.98	1
  ATP6AP1	100.00	1
  B2M	100.00	1
  BACH2	99.99	1
  BCL10	99.74	1
  BCL11B	100.00	1
  BLK	99.98	1
  BLM	99.80	1
  BLNK	99.90	1
  BLOC1S3	100.00	1
  BLOC1S6	99.98	1
  BTK	99.88	1
  C1QA	99.99	1
  C1QB	99.58	1
  C1QC	99.97	1
  C1R	99.99	1
  C1S	99.98	1
  C2	99.99	1
  C2orf69	99.97	1
  C3	100.00	1
  C4A	21.28	1
  C4BPA	99.95	1
  C5	99.92	1
  C6	99.97	1
  C7	99.94	1
  C8A	99.95	1
  C8B	99.37	1
  C8G	99.99	1
  C9	99.89	1
  CARD11	99.97	1
  CARD14	99.99	1
  CARD9	100.00	1
  CARMIL2	99.99	1
  CASP10	99.85	1
  CASP8	99.92	1
  CBL	99.95	1
  CCBE1	99.52	1
  CCDC28B	99.99	1
  CD19	99.98	1
  CD247	99.79	1
  CD27	99.95	1
  CD3D	100.00	1
  CD3E	100.00	1
  CD3G	100.00	1
  CD4	100.00	1
  CD40	100.00	1
  CD40LG	99.88	1
  CD46	99.86	1
  CD55	74.12	1
  CD59	100.00	1
  CD70	99.99	1
  CD79A	99.97	1
  CD79B	99.93	1
  CD81	99.97	1
  CD8A	99.97	1
  CDC42	98.05	1
  CDCA7	99.88	1
  CEBPE	100.00	1
  CFB	99.97	1
  CFD	99.99	1
  CFH	99.12	1
  CFHR1	84.44	1
  CFHR2	90.26	1
  CFHR3	91.62	1
  CFHR4	99.86	1
  CFHR5	99.68	1
  CFI	99.87	1
  CFP	99.96	1
  CFTR	99.45	1
  CHD7	99.99	1
  CIB1	99.92	1
  CIITA	99.99	1
  CLCN7	99.99	1
  CLEC7A	99.98	1
  CLPB	99.97	1
  COL7A1	99.99	1
  COPA	99.61	1
  CORO1A	91.71	1
  CPT2	99.65	1
  CR2	99.97	1
  CREBBP	99.97	1
  CSF2RA	93.86	1
  CSF2RB	100.00	1
  CSF3R	99.97	1
  CTC1	100.00	1
  CTLA4	99.99	1
  CTNNBL1	100.00	1
  CTPS1	98.63	1
  CTSC	99.97	1
  CXCR4	99.98	1
  CYBA	99.96	1
  CYBB	99.87	1
  CYBC1	100.00	1
  DBR1	99.92	1
  DCLRE1B	99.91	1
  DCLRE1C	99.79	1
  RIGI	99.84	1
  DEF6	100.00	1
  DGKE	99.10	1
  DHFR	98.89	1
  DKC1	99.59	1
  DNAJC21	99.67	1
  DNASE1	100.00	1
  DNASE1L3	99.90	1
  DNASE2	100.00	1
  DNMT3B	99.98	1
  DOCK2	100.00	1
  DOCK8	99.86	1
  DOK3	99.95	1
  DTNBP1	99.89	1
  EFL1	99.83	1
  ELANE	100.00	1
  ELF4	99.97	1
  EPG5	99.95	1
  ERBIN	99.69	1
  ERCC6L2	99.94	1
  EXTL3	99.99	1
  F12	99.99	1
  FAAP24	99.95	1
  FADD	99.97	1
  FAS	99.99	1
  FASLG	99.84	1
  FAT4	99.98	1
  FCGR2B	70.97	1
  FCGR3A	99.93	1
  FCGR3B	95.51	1
  FCHO1	99.99	1
  FCN3	99.48	1
  FERMT1	99.90	1
  FERMT3	99.99	1
  FNIP1	99.87	1
  FOXN1	99.97	1
  FOXP3	99.93	1
  FPR1	100.00	1
  G6PC3	99.98	1
  G6PD	99.97	1
  GATA1	99.97	1
  GATA2	99.99	1
  GFI1	99.88	1
  GIMAP5	100.00	1
  GINS1	99.99	1
  GUCY2C	99.90	1
  HAVCR2	99.93	1
  HAX1	100.00	1
  HELLS	99.78	1
  HMOX1	99.95	1
  HPS1	100.00	1
  HPS4	99.98	1
  HPS6	100.00	1
  HTRA2	99.99	1
  HYOU1	99.97	1
  ICOS	99.95	1
  ICOSLG	5.95	1
  IFIH1	99.84	1
  IFNAR1	99.75	1
  IFNAR2	89.62	1
  IFNG	99.50	1
  IFNGR1	99.87	1
  IFNGR2	99.95	1
  IGHM	100.00	1
  IGKC	99.99	1
  IGLL1	100.00	1
  IKBKB	99.93	1
  IKBKG	57.34	1
  IKZF1	99.92	1
  IL10	100.00	1
  IL10RA	99.99	1
  IL10RB	99.99	1
  IL12B	99.98	1
  IL12RB1	94.11	1
  IL12RB2	97.66	1
  IL15RA	99.96	1
  IL17F	99.99	1
  IL17RA	100.00	1
  IL17RC	100.00	1
  IL18	99.85	1
  IL18BP	99.99	1
  IL1RL1	99.76	1
  IL1RN	99.64	1
  IL21	99.95	1
  IL21R	99.70	1
  IL23R	97.64	1
  IL2RA	99.99	1
  IL2RB	100.00	1
  IL2RG	99.86	1
  IL36RN	100.00	1
  IL6R	92.46	1
  IL6ST	99.88	1
  IL7R	99.99	1
  ILRUN	100.00	1
  INO80	99.96	1
  IRAK1	99.98	1
  IRAK4	98.85	1
  IRF2BP2	100.00	1
  IRF3	99.96	1
  IRF4	99.99	1
  IRF7	100.00	1
  IRF8	99.99	1
  IRF9	100.00	1
  ISG15	100.00	1
  ITCH	95.57	1
  ITGB2	100.00	1
  ITK	99.91	1
  ITPKB	99.99	1
  IVNS1ABP	99.24	1
  JAGN1	100.00	1
  JAK1	99.32	1
  JAK3	99.99	1
  KDM6A	99.74	1
  KMT2A	99.97	1
  KMT2D	99.98	1
  KRAS	99.13	1
  LACC1	99.99	1
  LAMTOR2	99.92	1
  LAT	99.85	1
  LCK	99.56	1
  LCP2	99.58	1
  LIG1	99.93	1
  LIG4	100.00	1
  LIPA	99.96	1
  LPIN2	100.00	1
  LRBA	99.76	1
  LRRC8A	100.00	1
  LSM11	100.00	1
  LYST	99.87	1
  MAGT1	99.54	1
  MALT1	99.71	1
  MAN2B1	99.99	1
  MAP1LC3B2	100.00	1
  MAP3K14	99.98	1
  MAPK8	99.64	1
  MASP1	99.99	1
  MASP2	99.95	1
  MBL2	99.93	1
  MCM10	99.99	1
  MCM4	99.96	1
  MEFV	100.00	1
  MOGS	100.00	1
  MPEG1	100.00	1
  MPO	99.97	1
  MRE11	99.93	1
  MRTFA	92.99	1
  MS4A1	99.60	1
  MSH6	99.97	1
  MSN	99.98	1
  MTHFD1	100.00	1
  MVK	99.97	1
  MYD88	99.99	1
  MYO5B	100.00	1
  MYSM1	94.16	1
  NBAS	99.86	1
  NBN	99.93	1
  NCF1	57.22	1
  NCF2	99.85	1
  NCF4	100.00	1
  NCKAP1L	99.77	1
  NCSTN	99.82	1
  NFAT5	99.93	1
  NFE2L2	99.97	1
  NFKB1	99.80	1
  NFKB2	99.98	1
  NFKBIA	99.99	1
  NHEJ1	99.91	1
  NHP2	99.96	1
  NKX2-5	99.75	1
  NLRC4	99.95	1
  NLRP1	95.26	1
  NLRP12	99.99	1
  NLRP3	100.00	1
  NLRP7	99.99	1
  NOD2	99.98	1
  NOP10	99.99	1
  NOS2	96.11	1
  NPC1	99.99	1
  NRAS	99.66	1
  NSMCE3	100.00	1
  OAS1	99.96	1
  ORAI1	99.63	1
  OSTM1	99.56	1
  OTULIN	99.95	1
  PARN	99.75	1
  PAX1	100.00	1
  PCCA	99.90	1
  PCCB	99.97	1
  PEPD	99.98	1
  PGM3	99.94	1
  PIK3CD	99.99	1
  PIK3CG	99.72	1
  PIK3R1	99.86	1
  PLCG2	99.99	1
  PLEKHM1	99.77	1
  PLG	99.89	1
  PMS2	70.47	1
  PNP	100.00	1
  POLA1	99.57	1
  POLD1	99.96	1
  POLD2	99.95	1
  POLE	99.99	1
  POLE2	99.87	1
  POLR3A	99.97	1
  POLR3C	99.89	1
  POLR3F	99.97	1
  NT5C3A	99.95	1
  PRF1	100.00	1
  PRIM1	99.07	1
  PRKCD	99.96	1
  PRKDC	99.93	1
  PSEN1	100.00	1
  PSENEN	100.00	1
  PSMA3	99.96	1
  PSMB10	99.98	1
  PSMB4	99.83	1
  PSMB8	99.96	1
  PSMB9	99.68	1
  PSMG2	99.98	1
  PSTPIP1	99.91	1
  PSTPIP2	99.98	1
  PTEN	99.89	1
  PTPN11	99.98	1
  PTPN2	99.98	1
  PTPN6	100.00	1
  PTPRC	93.90	1
  RAB27A	99.94	1
  RAC2	99.99	1
  RAG1	100.00	1
  RAG2	100.00	1
  RANBP2	99.37	1
  RASGRP1	100.00	1
  RBCK1	100.00	1
  RC3H1	99.22	1
  RECQL4	100.00	1
  REL	96.99	1
  RELA	99.99	1
  RELB	99.97	1
  RFX5	99.88	1
  RFXANK	100.00	1
  RFXAP	99.98	1
  RHOH	99.99	1
  RIPK1	99.93	1
  RMRP	100.00	1
  RNASEH2A	99.95	1
  RNASEH2B	99.94	1
  RNASEH2C	99.99	1
  RNF168	99.97	1
  RNF31	100.00	1
  RORC	99.42	1
  RPSA	0.00	1
  RTEL1	100.00	1
  SAMD9	99.93	1
  SAMD9L	99.95	1
  SAMHD1	99.98	1
  SASH3	99.99	1
  SBDS	99.93	1
  SDHA	99.98	1
  SEC61A1	99.99	1
  SEMA3E	99.13	1
  SERPING1	100.00	1
  SGPL1	99.95	1
  SH2D1A	98.98	1
  SH3BP2	100.00	1
  SH3KBP1	99.95	1
  SKIC2	99.98	1
  SLC11A1	99.99	1
  SLC29A3	99.98	1
  SLC35C1	100.00	1
  SLC37A4	99.90	1
  SLC39A7	100.00	1
  SLC46A1	100.00	1
  SLC7A7	99.99	1
  SLC9A3	100.00	1
  SMARCAL1	99.97	1
  SMARCD2	99.99	1
  SNX10	99.96	1
  SOCS1	99.98	1
  SOCS4	99.92	1
  PMP22	99.99	1
  SPI1	99.81	1
  SPINK5	99.91	1
  SPPL2A	99.88	1
  SRP54	99.83	1
  SRP72	99.91	1
  STAT1	99.83	1
  STAT2	99.89	1
  STAT3	99.97	1
  STAT4	99.77	1
  STAT5B	99.50	1
  STAT6	99.87	1
  STIM1	99.99	1
  STING1	99.87	1
  STK4	99.91	1
  STN1	99.88	1
  STX11	100.00	1
  STXBP2	100.00	1
  STXBP3	85.74	1
  SYK	99.96	1
  TAFAZZIN	99.98	1
  TAP1	99.97	1
  TAP2	99.94	1
  TAPBP	99.98	1
  TBK1	99.07	1
  TBX1	99.95	1
  TBX21	99.99	1
  TCF3	100.00	1
  TCIRG1	99.99	1
  TCN2	100.00	1
  TERC	98.59	1
  TERT	100.00	1
  TET2	99.99	1
  TFRC	99.87	1
  TGFB1	100.00	1
  TGFBR1	99.94	1
  TGFBR2	99.98	1
  THBD	100.00	1
  TICAM1	99.99	1
  TINF2	100.00	1
  TIRAP	100.00	1
  TLR3	99.99	1
  TLR4	99.99	1
  TLR7	99.98	1
  TMC6	100.00	1
  TMC8	99.92	1
  TNFAIP3	99.94	1
  TNFRSF11A	100.00	1
  TNFRSF13B	99.43	1
  TNFRSF13C	99.99	1
  TNFRSF1A	100.00	1
  TNFRSF4	100.00	1
  TNFRSF9	99.99	1
  TNFSF11	99.89	1
  TNFSF12	100.00	1
  TNFSF13	100.00	1
  TOP2B	99.72	1
  TPP2	99.89	1
  TRAC	100.00	1
  TRAF3	99.97	1
  TRAF3IP2	100.00	1
  TREX1	100.00	1
  TRIM22	100.00	1
  TRNT1	99.97	1
  SKIC3	99.82	1
  TTC7A	99.77	1
  TYK2	99.99	1
  UBA1	99.93	1
  UNC119	100.00	1
  UNC13D	100.00	1
  UNC93B1	99.75	1
  UNG	100.00	1
  USB1	89.62	1
  USP18	93.05	1
  VAV1	99.99	1
  VPS13B	99.90	1
  VPS45	93.94	1
  WAS	99.90	1
  WDR1	99.99	1
  WIPF1	99.87	1
  WRAP53	100.00	1
  XBP1	99.99	1
  XIAP	99.36	1
  ZAP70	99.95	1
  ZBTB24	99.99	1
  ZNF341	100.00	1
  ZNFX1	99.99	1