JAK3

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Name:	Janus kinase 3
Symbol:	JAK3
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	JAK-3 JAK3_HUMAN JAKL L-JAK LJAK leukocyte Janus kinase tyrosine-protein kinase JAK3
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Erythrocytoses, polycythémies, thrombocytoses et neutropénies congénitales (gene panel)
• Intellectual disability (virtual gene panel)
• Maffucci syndrome (gene panel)
• Overgrowth & vascular anomalies (gene panel)
• Primary immune deficiencies (gene panel)
• Primary immune deficiencies (gene panel)
• Sturge-Weber syndrome (gene panel)

Related Diseases

• T-B+ severe combined immunodeficiency due to JAK3 deficiency

Related Gene Panels

• Erythocyoses, polycythémies, thrombocytoses congénitales (gene panel) - ULG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ANKRD26	0.00	0
  BPGM	0.00	0
  CSF1R	0.00	0
  CSF3R	0.00	0
  DDX41	0.00	0
  EGLN1	0.00	0
  ELANE	0.00	0
  EPAS1	0.00	0
  EPO	0.00	0
  EPOR	0.00	0
  GATA2	0.00	0
  JAK1	0.00	0
  JAK2	0.00	0
  JAK3	0.00	0
  MPL	0.00	0
  PIEZO1	0.00	0
  SLC30A10	0.00	0
  STAT3	0.00	0
  STAT5B	0.00	0
  THPO	0.00	0
  VHL	0.00	0
  SH2B3	0.00	0

• Intellectual disability (gene panel)
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  A2ML1	97.92	0	No comment
  AAAS	98.73	0	No comment
  AARS1	98.82	0	No comment
  AASS	98.51	0	No comment
  ABAT	99.40	0	No comment
  ABCB11	98.30	0	No comment
  ABCB7	94.65	0	No comment
  ABCC6	99.58	0	No comment
  ABCC8	99.33	0	No comment
  ABCC9	99.05	0	No comment
  ABCD1	97.12	0	No comment
  ABCD4	98.90	0	No comment
  ABCG5	99.05	0	No comment
  ABHD12	89.63	0	No comment
  ABHD5	97.97	0	No comment
  ACAD9	99.34	0	No comment
  ACADM	97.15	0	No comment
  ACADS	99.06	0	No comment
  ACADSB	96.29	0	No comment
  ACADVL	98.55	0	No comment
  ACAN	98.12	0	No comment
  ACAT1	97.08	0	No comment
  ACBD6	99.00	0	No comment
  ACE2	97.24	0	No comment
  ACIN1	99.19	0	No comment
  ACO2	98.76	0	No comment
  ACOT9	97.29	0	No comment
  ACOX1	98.24	0	No comment
  ACP5	98.80	0	No comment
  ACSF3	99.18	0	No comment
  ACSL4	91.66	0	No comment
  ACTA2	99.56	0	No comment
  ACTB	99.87	0	No comment
  ACTG1	99.91	0	No comment
  ACTL6A	99.12	0	No comment
  ACTL6B	98.82	0	No comment
  ACVR1	99.30	0	No comment
  ACY1	99.53	0	No comment
  ADA	98.79	0	No comment
  ADAM22	97.86	0	No comment
  ADAMTS10	99.11	0	No comment
  ADAR	99.42	0	No comment
  ADARB1	93.73	0	No comment
  ADAT3	98.92	0	No comment
  COQ8A	99.33	0	No comment
  ADCY5	95.67	0	No comment
  ADD3	99.21	0	No comment
  ADK	98.15	0	No comment
  ADNP	99.77	0	No comment
  ADPRS	96.99	0	No comment
  ADRA2B	99.24	0	No comment
  ADSL	99.02	0	No comment
  AFF2	96.88	0	No comment
  AFF3	99.12	0	No comment
  AFF4	99.25	0	No comment
  AFG3L2	96.83	0	No comment
  AFP	98.35	0	No comment
  AGA	99.31	0	No comment
  AGK	99.23	0	No comment
  AGL	98.86	0	No comment
  AGMO	98.98	0	No comment
  AGO1	99.33	0	No comment
  AGPAT2	95.70	0	No comment
  AGPS	96.48	0	No comment
  AGT	99.43	0	No comment
  AGTR2	99.44	0	No comment
  AGXT	99.20	0	No comment
  AHCY	99.37	0	No comment
  AHDC1	99.43	0	No comment
  AHI1	98.72	0	No comment
  AIFM1	96.67	0	No comment
  AIMP1	96.59	0	No comment
  AIMP2	99.14	0	No comment
  AIPL1	99.50	0	No comment
  AIRE	97.18	0	No comment
  AK1	99.47	0	No comment
  AK2	98.26	0	No comment
  AKAP17A	96.52	0	No comment
  AKAP4	99.11	0	No comment
  AKAP6	99.28	0	No comment
  AKR1C2	99.87	0	No comment
  AKR1D1	99.35	0	No comment
  AKT1	99.32	0	No comment
  AKT3	97.83	0	No comment
  ALAD	99.59	0	No comment
  ALDH18A1	99.49	0	No comment
  ALDH1A3	96.21	0	No comment
  ALDH3A2	98.54	0	No comment
  ALDH4A1	98.01	0	No comment
  ALDH5A1	96.17	0	No comment
  ALDH7A1	98.33	0	No comment
  ALDOA	99.58	0	No comment
  ALDOB	99.46	0	No comment
  ALG1	99.07	0	No comment
  ALG11	99.81	0	No comment
  ALG12	99.70	0	No comment
  ALG13	91.46	0	No comment
  ALG14	98.86	0	No comment
  ALG2	99.56	0	No comment
  ALG3	98.85	0	No comment
  ALG6	98.37	0	No comment
  ALG8	99.11	0	No comment
  ALG9	98.84	0	No comment
  ALKBH8	98.86	0	No comment
  ALMS1	99.15	0	No comment
  ALPL	99.07	0	No comment
  ALS2	98.98	0	No comment
  ALX1	99.69	0	No comment
  ALX3	96.22	0	No comment
  ALX4	99.35	0	No comment
  AMER1	99.70	0	No comment
  AMPD2	99.08	0	No comment
  AMT	99.79	0	No comment
  ANK3	99.57	0	No comment
  ANKH	99.15	0	No comment
  ANKRD11	97.84	0	No comment
  ANO10	98.75	0	No comment
  ANO3	99.47	0	No comment
  ANO5	99.01	0	No comment
  ANTXR1	94.84	0	No comment
  AP1B1	99.25	0	No comment
  AP1S1	95.66	0	No comment
  AP1S2	85.55	0	No comment
  AP2M1	98.28	0	No comment
  AP3B1	98.71	0	No comment
  AP3B2	98.28	0	No comment
  AP4B1	99.39	0	No comment
  AP4E1	98.53	0	No comment
  AP4M1	99.53	0	No comment
  AP4S1	99.30	0	No comment
  AP5Z1	98.97	0	No comment
  APC2	94.47	0	No comment
  COA8	95.39	0	No comment
  APTX	98.38	0	No comment
  AQP7	99.87	0	No comment
  AR	95.56	0	No comment
  ARCN1	96.22	0	No comment
  ARFGEF2	98.65	0	No comment
  ARG1	99.07	0	No comment
  ARHGAP31	99.50	0	No comment
  ARHGAP36	98.64	0	No comment
  ARHGAP6	95.05	0	No comment
  ARHGEF2	98.52	0	No comment
  ARHGEF4	99.40	0	No comment
  ARHGEF6	94.23	0	No comment
  ARHGEF9	96.24	0	No comment
  ARID1A	97.52	0	No comment
  ARID1B	95.00	0	No comment
  ARID2	99.53	0	No comment
  ARIH1	98.86	0	No comment
  ARL13B	97.87	0	No comment
  ARL14EP	97.37	0	No comment
  ARL6	98.82	0	No comment
  ODAD2	98.89	0	No comment
  ARMC9	98.71	0	No comment
  ARSA	99.35	0	No comment
  ARSB	96.85	0	No comment
  ARSL	94.37	0	No comment
  ARSF	93.30	0	No comment
  ARV1	99.17	0	No comment
  ARX	75.98	0	No comment
  ASAH1	98.03	0	No comment
  ASB12	96.10	0	No comment
  ASCC3	98.81	0	No comment
  ASCL1	98.32	0	No comment
  ASH1L	99.56	0	No comment
  ASL	98.41	0	No comment
  ASMT	92.35	0	No comment
  ASMTL	99.94	0	No comment
  ASNS	99.40	0	No comment
  ASPA	98.77	0	No comment
  ASPH	98.90	0	No comment
  ASPM	99.12	0	No comment
  ASS1	99.61	0	No comment
  ASTN1	99.12	0	No comment
  ASXL1	99.32	0	No comment
  ASXL2	94.54	0	No comment
  ASXL3	98.97	0	No comment
  ATAD1	95.52	0	No comment
  ATAD3A	98.34	0	No comment
  ATCAY	99.48	0	No comment
  ATIC	98.97	0	No comment
  ATL1	96.64	0	No comment
  ATM	98.13	0	No comment
  ATN1	98.73	0	No comment
  ATP13A2	99.25	0	No comment
  ATP1A1	98.42	0	No comment
  ATP1A2	98.77	0	No comment
  ATP1A3	99.51	0	No comment
  ATP2A2	98.83	0	No comment
  ATP2B3	97.71	0	No comment
  ATP6AP1	96.58	0	No comment
  ATP6AP2	93.72	0	No comment
  ATP6V0A2	99.30	0	No comment
  ATP6V1A	97.97	0	No comment
  ATP6V1B1	98.05	0	No comment
  ATP6V1B2	98.55	0	No comment
  ATP7A	96.22	0	No comment
  ATP7B	99.52	0	No comment
  ATP8A2	99.53	0	No comment
  ATP8B1	98.96	0	No comment
  ATR	98.89	0	No comment
  ATRX	95.60	0	No comment
  ATXN1	99.33	0	No comment
  ATXN10	98.33	0	No comment
  ATXN2	91.35	0	No comment
  ATXN3	98.93	0	No comment
  ATXN3L	99.08	0	No comment
  ATXN7	95.21	0	No comment
  AUH	99.00	0	No comment
  AUTS2	98.29	0	No comment
  AVP	86.48	0	No comment
  AVPR2	99.55	0	No comment
  AWAT2	98.86	0	No comment
  B3GALNT2	96.88	0	No comment
  B3GALT6	74.99	0	No comment
  B3GLCT	95.44	0	No comment
  B4GALNT1	98.73	0	No comment
  B4GALT1	97.25	0	No comment
  B4GALT7	93.89	0	No comment
  B9D1	98.92	0	No comment
  BBS1	99.26	0	No comment
  BBS10	99.67	0	No comment
  BBS12	99.69	0	No comment
  BBS2	98.90	0	No comment
  BBS4	98.91	0	No comment
  BBS5	98.35	0	No comment
  BBS7	99.11	0	No comment
  BBS9	98.84	0	No comment
  BCAP31	92.90	0	No comment
  BCKDHA	99.19	0	No comment
  BCKDHB	99.14	0	No comment
  BCKDK	98.03	0	No comment
  BCL11A	99.29	0	No comment
  BCL11B	95.65	0	No comment
  BCOR	98.20	0	No comment
  BCORL1	98.79	0	No comment
  BCS1L	99.07	0	No comment
  BDP1	99.48	0	No comment
  BEAN1	99.42	0	No comment
  BFSP2	99.16	0	No comment
  BGN	97.15	0	No comment
  BHLHA9	83.99	0	No comment
  BICD2	99.34	0	No comment
  BIN1	99.27	0	No comment
  BLM	97.69	0	No comment
  BMP15	94.45	0	No comment
  BMP4	99.03	0	No comment
  BMPER	99.17	0	No comment
  BMPR1B	99.45	0	No comment
  BOLA3	98.55	0	No comment
  BPIFB6	98.75	0	No comment
  BPTF	96.21	0	No comment
  BRAF	97.62	0	No comment
  BRAT1	98.61	0	No comment
  BRCA1	99.65	0	No comment
  BRCA2	98.74	0	No comment
  BRD4	90.53	0	No comment
  BRF1	97.49	0	No comment
  BRIP1	98.87	0	No comment
  BRPF1	99.09	0	No comment
  BRSK2	97.89	0	No comment
  BRWD3	96.19	0	No comment
  BSCL2	99.32	0	No comment
  BSND	99.48	0	No comment
  BTD	99.63	0	No comment
  BTK	96.82	0	No comment
  BUB1B	98.89	0	No comment
  C12ORF4	98.72	0	No comment
  C12ORF57	99.66	0	No comment
  MTRFR	98.21	0	No comment
  CCDC32	98.00	0	No comment
  VPS35L	98.65	0	No comment
  C19ORF12	98.79	0	No comment
  C2CD3	98.92	0	No comment
  PCARE	98.64	0	No comment
  DIPK2A	99.10	0	No comment
  ODAPH	99.74	0	No comment
  CPLANE1	98.94	0	No comment
  CFAP418	98.78	0	No comment
  C9ORF72	98.10	0	No comment
  CA2	99.35	0	No comment
  CA5A	99.23	0	No comment
  CA8	99.30	0	No comment
  CACNA1A	98.14	0	No comment
  CACNA1B	96.02	0	No comment
  CACNA1C	99.14	0	No comment
  CACNA1D	99.31	0	No comment
  CACNA1E	99.29	0	No comment
  CACNA1F	97.17	0	No comment
  CACNA1G	99.06	0	No comment
  CACNA1H	98.12	0	No comment
  CACNA1S	98.76	0	No comment
  CACNA2D2	95.24	0	No comment
  CACNA2D3	98.17	0	No comment
  CACNB4	99.35	0	No comment
  CACNG2	99.57	0	No comment
  CAD	99.05	0	No comment
  CAMK2A	99.63	0	No comment
  CAMK2B	97.56	0	No comment
  CAMK2G	96.97	0	No comment
  CAMTA1	99.08	0	No comment
  CANT1	98.12	0	No comment
  CAP1	99.44	0	No comment
  CAPN10	99.27	0	No comment
  CAPRIN1	99.09	0	No comment
  CAPZA2	96.21	0	No comment
  CARS1	99.79	0	No comment
  CARS2	96.59	0	No comment
  KNL1	96.88	0	No comment
  CASK	95.86	0	No comment
  CASP2	99.05	0	No comment
  CASR	99.36	0	No comment
  CBL	98.79	0	No comment
  CBS	99.88	0	No comment
  CC2D1A	98.90	0	No comment
  CC2D2A	98.66	0	No comment
  CCBE1	98.76	0	No comment
  CCDC103	99.47	0	No comment
  ODAD1	99.10	0	No comment
  CCDC115	99.59	0	No comment
  CCDC22	97.58	0	No comment
  SVBP	99.76	0	No comment
  CCDC39	98.58	0	No comment
  CCDC40	98.68	0	No comment
  CEP83	98.29	0	No comment
  CCDC47	98.08	0	No comment
  CCDC65	99.18	0	No comment
  CCDC78	99.72	0	No comment
  CCDC8	99.54	0	No comment
  CCDC88A	98.66	0	No comment
  CCDC88C	99.06	0	No comment
  CCNA2	99.24	0	No comment
  CCNB3	99.08	0	No comment
  CCND2	98.80	0	No comment
  CCNO	99.50	0	No comment
  CCT5	98.48	0	No comment
  CD96	98.95	0	No comment
  CD99	99.96	0	No comment
  CDC42	98.38	0	No comment
  CDC42BPB	99.25	0	No comment
  CDC45	99.38	0	No comment
  CDC6	98.74	0	No comment
  CDH11	99.46	0	No comment
  CDH15	99.37	0	No comment
  CDH2	99.12	0	No comment
  CDH23	98.80	0	No comment
  CDH3	99.16	0	No comment
  CDK10	99.78	0	No comment
  CDK13	95.98	0	No comment
  CDK16	98.07	0	No comment
  CDK19	99.08	0	No comment
  CDK5R1	99.67	0	No comment
  CDK5RAP2	99.35	0	No comment
  CDK8	96.11	0	No comment
  CDKL5	93.83	0	No comment
  CDKN1C	86.67	0	No comment
  CDON	98.33	0	No comment
  CDT1	91.10	0	No comment
  CENPF	98.91	0	No comment
  CENPJ	99.50	0	No comment
  CEP104	99.17	0	No comment
  CEP135	96.95	0	No comment
  CEP152	98.51	0	No comment
  CEP290	98.38	0	No comment
  CEP41	98.54	0	No comment
  CEP55	99.06	0	No comment
  CEP57	98.39	0	No comment
  CEP63	98.63	0	No comment
  CFP	97.99	0	No comment
  CHAMP1	99.90	0	No comment
  CHD2	98.65	0	No comment
  CHD3	98.02	0	No comment
  CHD4	99.40	0	No comment
  CHD7	99.13	0	No comment
  CHD8	99.13	0	No comment
  CHKB	97.91	0	No comment
  DDX11	98.90	0	No comment
  CHM	89.56	0	No comment
  CHMP1A	98.78	0	No comment
  CHRDL1	97.84	0	No comment
  CHRNA2	99.41	0	No comment
  CHRNA4	98.72	0	No comment
  CHRNB2	99.57	0	No comment
  CHRNG	99.02	0	No comment
  CHST14	98.06	0	No comment
  CHST3	99.63	0	No comment
  CHSY1	93.60	0	No comment
  CHUK	98.09	0	No comment
  CIB2	98.54	0	No comment
  CIC	98.17	0	No comment
  CISD2	97.44	0	No comment
  CIT	99.14	0	No comment
  CKAP2L	99.24	0	No comment
  CLCN2	99.53	0	No comment
  CLCN4	98.32	0	No comment
  CLCN5	98.19	0	No comment
  CLCN7	97.43	0	No comment
  CLCNKA	99.53	0	No comment
  CLCNKB	99.55	0	No comment
  CLDN19	98.68	0	No comment
  CLIC2	95.82	0	No comment
  CLN3	99.63	0	No comment
  CLN5	98.95	0	No comment
  CLN6	94.08	0	No comment
  CLN8	99.98	0	No comment
  CLP1	99.53	0	No comment
  CLPB	98.72	0	No comment
  CLPP	98.67	0	No comment
  CLTC	98.69	0	No comment
  CMC4	96.87	0	No comment
  CNKSR1	99.49	0	No comment
  CNKSR2	95.65	0	No comment
  CNNM2	99.22	0	No comment
  CNOT1	98.98	0	No comment
  CNOT2	99.08	0	No comment
  CNOT3	98.24	0	No comment
  CNTN3	99.26	0	No comment
  CNTN4	99.15	0	No comment
  CNTNAP2	99.12	0	No comment
  COA3	99.34	0	No comment
  COA5	99.73	0	No comment
  COASY	98.90	0	No comment
  COG1	99.22	0	No comment
  COG4	99.26	0	No comment
  COG5	98.95	0	No comment
  COG6	98.53	0	No comment
  COG7	99.10	0	No comment
  COG8	99.58	0	No comment
  COL10A1	98.73	0	No comment
  COL11A1	99.16	0	No comment
  COL11A2	99.40	0	No comment
  COL18A1	98.80	0	No comment
  COL1A1	98.56	0	No comment
  COL1A2	99.53	0	No comment
  COL25A1	99.68	0	No comment
  COL2A1	99.63	0	No comment
  COL4A1	98.90	0	No comment
  COL4A2	98.81	0	No comment
  COL4A3	98.60	0	No comment
  CERT1	98.80	0	No comment
  COL4A4	99.18	0	No comment
  COL4A6	96.60	0	No comment
  COL6A1	99.30	0	No comment
  COL6A3	99.58	0	No comment
  COL9A1	99.37	0	No comment
  COL9A2	99.12	0	No comment
  COL9A3	95.16	0	No comment
  COLEC10	98.66	0	No comment
  COLEC11	99.77	0	No comment
  COMP	99.30	0	No comment
  COQ2	97.65	0	No comment
  COQ4	98.65	0	No comment
  COQ5	98.41	0	No comment
  COQ9	98.96	0	No comment
  COX10	99.59	0	No comment
  COX14	97.55	0	No comment
  COX15	99.27	0	No comment
  COX6B1	99.22	0	No comment
  COX7B	98.33	0	No comment
  CP	98.56	0	No comment
  CPA6	99.18	0	No comment
  HOMER2	98.16	0	No comment
  CPS1	99.26	0	No comment
  CPXCR1	98.61	0	No comment
  CRADD	98.71	0	No comment
  CRB1	99.41	0	No comment
  CRB2	98.33	0	No comment
  CRBN	99.00	0	No comment
  CREBBP	99.20	0	No comment
  CRLF2	96.34	0	No comment
  CRX	99.30	0	No comment
  CRYAA	99.93	0	No comment
  CRYBA1	99.47	0	No comment
  CRYBA4	99.30	0	No comment
  CRYBB1	99.71	0	No comment
  CRYBB2	99.21	0	No comment
  CRYBB3	97.71	0	No comment
  CRYGC	99.70	0	No comment
  CRYGD	99.70	0	No comment
  CSDE1	99.37	0	No comment
  CSF1R	98.97	0	No comment
  CSF2RA	88.66	0	No comment
  CSNK1G1	98.84	0	No comment
  CSNK2A1	99.27	0	No comment
  CSNK2B	99.56	0	No comment
  CSPP1	98.55	0	No comment
  CSTB	99.72	0	No comment
  CSTF2	95.94	0	No comment
  CTBP1	96.89	0	No comment
  CTC1	99.15	0	No comment
  CTCF	98.88	0	No comment
  CTDP1	96.55	0	No comment
  CCN2	97.14	0	No comment
  CTNNA2	98.80	0	No comment
  CTNNB1	99.57	0	No comment
  CTNND2	94.20	0	No comment
  CTNS	99.36	0	No comment
  CTPS2	96.99	0	No comment
  CTSA	99.45	0	No comment
  CTSD	99.18	0	No comment
  CTSF	96.71	0	No comment
  CTSK	99.73	0	No comment
  CTTNBP2	99.25	0	No comment
  CTU2	98.59	0	No comment
  CUL3	98.83	0	No comment
  CUL4B	92.06	0	No comment
  CUL7	99.50	0	No comment
  CUX1	96.61	0	No comment
  CUX2	98.80	0	No comment
  CWC27	97.65	0	No comment
  CWF19L1	98.83	0	No comment
  CFAP47	93.78	0	No comment
  STEEP1	92.87	0	No comment
  CXorf58	94.93	0	No comment
  CYB5R3	97.94	0	No comment
  CYC1	91.11	0	No comment
  CYFIP2	98.67	0	No comment
  CYP1B1	99.46	0	No comment
  CYP27A1	99.02	0	No comment
  CYP2U1	96.42	0	No comment
  CYP7B1	97.88	0	No comment
  D2HGDH	99.43	0	No comment
  DAB1	98.49	0	No comment
  DACT1	97.23	0	No comment
  DAG1	99.84	0	No comment
  DARS1	97.83	0	No comment
  DARS2	98.51	0	No comment
  DBT	98.43	0	No comment
  DCAF17	98.20	0	No comment
  DCC	99.25	0	No comment
  DCHS1	99.42	0	No comment
  DCHS2	96.72	0	No comment
  DCPS	99.51	0	No comment
  DCTN1	99.19	0	No comment
  DCX	97.69	0	No comment
  DDB2	99.44	0	No comment
  DDC	98.92	0	No comment
  DDHD1	98.96	0	No comment
  DDHD2	97.51	0	No comment
  DDOST	99.21	0	No comment
  DDR2	98.02	0	No comment
  INTS6L	94.69	0	No comment
  DDX3X	94.86	0	No comment
  DDX53	99.21	0	No comment
  RIGI	98.54	0	No comment
  DDX59	98.74	0	No comment
  DDX6	99.28	0	No comment
  DEAF1	94.52	0	No comment
  DECR1	98.30	0	No comment
  DEGS1	98.48	0	No comment
  DENND5A	98.76	0	No comment
  DEPDC5	98.88	0	No comment
  DGKH	97.01	0	No comment
  DHCR24	99.02	0	No comment
  DHCR7	99.47	0	No comment
  DHDDS	97.02	0	No comment
  DHFR	96.94	0	No comment
  DHODH	99.05	0	No comment
  DHPS	98.61	0	No comment
  DHRSX	91.20	0	No comment
  DHTKD1	98.94	0	No comment
  DHX30	98.83	0	No comment
  DIAPH1	91.23	0	No comment
  DIAPH2	87.29	0	No comment
  DIP2B	98.90	0	No comment
  DIS3L2	98.91	0	No comment
  DKC1	93.86	0	No comment
  DLAT	98.39	0	No comment
  DLD	98.88	0	No comment
  DLG1	98.14	0	No comment
  DLG2	99.29	0	No comment
  DLG3	97.25	0	No comment
  DLG4	99.13	0	No comment
  DLGAP2	99.74	0	No comment
  DLL3	86.64	0	No comment
  DLL4	99.36	0	No comment
  DMD	96.45	0	No comment
  DMP1	99.65	0	No comment
  DMPK	99.32	0	No comment
  DMXL2	98.36	0	No comment
  DNA2	98.22	0	No comment
  DNAAF3	98.65	0	No comment
  DNAJC12	99.66	0	No comment
  DNAJC19	96.91	0	No comment
  DNAJC3	96.14	0	No comment
  DNM1	97.82	0	No comment
  DNM1L	98.63	0	No comment
  DNM2	98.34	0	No comment
  DNMT1	98.21	0	No comment
  DNMT3A	99.20	0	No comment
  DNMT3B	99.29	0	No comment
  DOCK11	92.03	0	No comment
  DOCK3	98.52	0	No comment
  DOCK6	99.05	0	No comment
  DOCK7	98.51	0	No comment
  DOCK8	99.20	0	No comment
  DOLK	99.80	0	No comment
  DONSON	96.21	0	No comment
  DPAGT1	99.38	0	No comment
  DPF1	98.48	0	No comment
  DPF2	99.34	0	No comment
  DPF3	99.50	0	No comment
  DPH1	99.38	0	No comment
  DPM1	99.42	0	No comment
  DPM2	99.20	0	No comment
  DPM3	99.69	0	No comment
  DPP6	92.06	0	No comment
  DPYD	99.12	0	No comment
  DRD2	99.36	0	No comment
  DSCAM	98.89	0	No comment
  VPS26C	99.43	0	No comment
  DSPP	98.82	0	No comment
  DST	98.99	0	No comment
  DSTYK	99.35	0	No comment
  DVL1	99.68	0	No comment
  DVL3	98.80	0	No comment
  DYM	97.55	0	No comment
  DYNC1H1	99.37	0	No comment
  DYNC1I2	98.87	0	No comment
  DYNC2H1	97.67	0	No comment
  DYRK1A	99.47	0	No comment
  DNAAF4	98.09	0	No comment
  EBF3	99.40	0	No comment
  EBP	98.55	0	No comment
  ECEL1	97.04	0	No comment
  EDA	97.49	0	No comment
  EDNRA	99.24	0	No comment
  EDNRB	98.60	0	No comment
  EED	97.73	0	No comment
  EEF1A2	92.77	0	No comment
  EEF1B2	97.60	0	No comment
  EFHC1	98.17	0	No comment
  EFNB1	98.53	0	No comment
  EFTUD2	98.05	0	No comment
  EGR2	99.61	0	No comment
  EHMT1	98.17	0	No comment
  EIF2A	97.83	0	No comment
  EIF2AK1	98.91	0	No comment
  EIF2AK3	97.90	0	No comment
  EIF2S3	97.86	0	No comment
  EIF3F	99.59	0	No comment
  EIF4A3	99.56	0	No comment
  EIF4G1	99.24	0	No comment
  ELAC2	99.51	0	No comment
  ELK1	98.30	0	No comment
  ELN	99.54	0	No comment
  ELOVL4	99.51	0	No comment
  ELOVL5	98.85	0	No comment
  ELP2	99.00	0	No comment
  EMC1	99.43	0	No comment
  EMG1	99.17	0	No comment
  EML1	98.84	0	No comment
  EMX2	99.75	0	No comment
  EN2	95.92	0	No comment
  ENOX2	95.88	0	No comment
  ENPP1	95.08	0	No comment
  TEPSIN	99.67	0	No comment
  ENTPD1	97.83	0	No comment
  EOGT	90.07	0	No comment
  EOMES	99.11	0	No comment
  EP300	99.21	0	No comment
  EPB41L1	99.19	0	No comment
  EPG5	98.98	0	No comment
  EPM2A	91.75	0	No comment
  EPPK1	99.37	0	No comment
  SELENOI	98.64	0	No comment
  ERCC1	97.35	0	No comment
  ERCC2	98.26	0	No comment
  ERCC3	99.57	0	No comment
  ERCC4	99.08	0	No comment
  ERCC5	99.17	0	No comment
  ERCC6	99.25	0	No comment
  ERCC6L2	98.36	0	No comment
  ERCC8	99.23	0	No comment
  ERF	99.27	0	No comment
  ERLIN2	99.21	0	No comment
  ERMARD	99.76	0	No comment
  ESCO2	97.40	0	No comment
  ESX1	96.03	0	No comment
  ETFA	97.87	0	No comment
  ETFB	99.51	0	No comment
  ETFDH	97.92	0	No comment
  ETHE1	98.75	0	No comment
  EVC	94.14	0	No comment
  EVC2	97.83	0	No comment
  EXOSC3	98.97	0	No comment
  EXOSC8	98.32	0	No comment
  EXT1	99.14	0	No comment
  EXT2	99.43	0	No comment
  EXTL3	99.80	0	No comment
  EYA1	99.11	0	No comment
  EZH2	96.67	0	No comment
  F5	99.15	0	No comment
  FA2H	97.25	0	No comment
  FAAH2	92.70	0	No comment
  FAH	96.88	0	No comment
  OTULIN	89.08	0	No comment
  FAM111A	99.59	0	No comment
  FAM111B	99.76	0	No comment
  FAM120C	96.47	0	No comment
  HYCC1	99.23	0	No comment
  RETREG1	97.37	0	No comment
  FHIP2A	97.70	0	No comment
  FAM161A	99.42	0	No comment
  FAM20A	94.00	0	No comment
  FAM20C	96.33	0	No comment
  FAM47B	99.81	0	No comment
  CCNQ	84.67	0	No comment
  FANCA	98.47	0	No comment
  FANCB	97.15	0	No comment
  FANCC	99.30	0	No comment
  FANCD2	99.02	0	No comment
  FANCE	95.74	0	No comment
  FANCF	99.29	0	No comment
  FANCG	98.43	0	No comment
  FANCI	98.29	0	No comment
  FAR1	97.96	0	No comment
  FARS2	99.13	0	No comment
  FASN	99.66	0	No comment
  FAT4	99.73	0	No comment
  FBLN5	97.72	0	No comment
  FBN1	99.18	0	No comment
  FBN2	99.13	0	No comment
  FBP1	99.54	0	No comment
  FBXL3	98.89	0	No comment
  FBXL4	99.22	0	No comment
  FBXO11	98.18	0	No comment
  FBXO25	98.32	0	No comment
  FBXO7	99.44	0	No comment
  FBXO8	99.00	0	No comment
  FBXW11	98.85	0	No comment
  FBXW4	98.88	0	No comment
  FDFT1	96.29	0	No comment
  FDXR	99.16	0	No comment
  FEM1B	98.39	0	No comment
  FGD1	95.65	0	No comment
  FGD4	97.87	0	No comment
  FGF10	98.79	0	No comment
  FGF12	99.23	0	No comment
  FGF14	99.47	0	No comment
  FGF3	95.52	0	No comment
  FGFR1	99.06	0	No comment
  FGFR2	99.55	0	No comment
  FGFR3	98.01	0	No comment
  FH	98.88	0	No comment
  FHL1	98.74	0	No comment
  FIBP	99.40	0	No comment
  FIG4	98.99	0	No comment
  FKBP14	98.92	0	No comment
  FKBP6	99.52	0	No comment
  FKBPL	99.97	0	No comment
  FKRP	97.44	0	No comment
  FKTN	98.78	0	No comment
  FLAD1	99.48	0	No comment
  FLNA	98.47	0	No comment
  FLNB	98.87	0	No comment
  FLT4	98.94	0	No comment
  FLVCR1	98.36	0	No comment
  FLVCR2	99.65	0	No comment
  FMN2	96.08	0	No comment
  FMR1	96.13	0	No comment
  FOLR1	99.56	0	No comment
  FOXC1	91.49	0	No comment
  FOXC2	93.24	0	No comment
  FOXE1	88.43	0	No comment
  FOXE3	70.11	0	No comment
  FOXF1	98.60	0	No comment
  FOXG1	78.93	0	No comment
  FOXN1	99.64	0	No comment
  FOXP1	98.65	0	No comment
  FOXP2	98.84	0	No comment
  FOXP3	95.40	0	No comment
  FOXRED1	98.46	0	No comment
  FRAS1	98.89	0	No comment
  FREM1	99.07	0	No comment
  FREM2	99.25	0	No comment
  FRMD7	97.20	0	No comment
  FRMPD4	97.55	0	No comment
  FRRS1L	82.94	0	No comment
  FRY	99.11	0	No comment
  FTCD	98.94	0	No comment
  FTL	97.48	0	No comment
  FTO	99.41	0	No comment
  FTSJ1	98.72	0	No comment
  FUCA1	98.66	0	No comment
  FCSK	99.13	0	No comment
  FUT8	98.58	0	No comment
  FXN	96.73	0	No comment
  FYCO1	99.38	0	No comment
  FZD3	99.31	0	No comment
  FZD6	99.22	0	No comment
  G6PC3	99.48	0	No comment
  GAA	99.39	0	No comment
  GAB3	94.68	0	No comment
  GABBR2	96.86	0	No comment
  GABRA1	99.65	0	No comment
  GABRA2	99.34	0	No comment
  GABRA5	99.43	0	No comment
  GABRB2	98.99	0	No comment
  GABRB3	99.65	0	No comment
  GABRG2	91.85	0	No comment
  GABRG3	99.67	0	No comment
  GABRQ	96.87	0	No comment
  GAD1	99.31	0	No comment
  GALC	98.53	0	No comment
  GALE	98.79	0	No comment
  GALK1	99.12	0	No comment
  GALNS	98.20	0	No comment
  GALNT2	99.25	0	No comment
  GALT	99.67	0	No comment
  GAMT	98.08	0	No comment
  GAN	98.97	0	No comment
  GAS8	98.96	0	No comment
  GATA2	99.39	0	No comment
  GATA4	94.57	0	No comment
  GATA6	90.43	0	No comment
  GATAD2B	99.84	0	No comment
  GATM	99.31	0	No comment
  GBA1	99.80	0	No comment
  GBA2	99.40	0	No comment
  GBE1	98.14	0	No comment
  GCDH	99.26	0	No comment
  GCH1	98.31	0	No comment
  GCK	99.00	0	No comment
  GCSH	98.69	0	No comment
  GDAP1	99.61	0	No comment
  GDF5	98.79	0	No comment
  GDF6	95.02	0	No comment
  GDI1	96.43	0	No comment
  GEMIN4	99.84	0	No comment
  GFAP	99.47	0	No comment
  GFER	96.28	0	No comment
  GFM1	98.59	0	No comment
  GHR	98.44	0	No comment
  GIGYF2	98.79	0	No comment
  GJA1	99.86	0	No comment
  GJA3	98.78	0	No comment
  GJA8	99.16	0	No comment
  GJB1	99.27	0	No comment
  GJB2	99.76	0	No comment
  GJB3	99.85	0	No comment
  GJC2	86.86	0	No comment
  GK	95.46	0	No comment
  GLB1	99.09	0	No comment
  GLDC	98.46	0	No comment
  GLE1	99.11	0	No comment
  GLI2	98.54	0	No comment
  GLI3	99.24	0	No comment
  GLIS3	99.02	0	No comment
  GLMN	98.58	0	No comment
  GLRA1	98.32	0	No comment
  GLRA2	91.37	0	No comment
  GLUD1	97.56	0	No comment
  GLUL	99.52	0	No comment
  GLYCTK	99.68	0	No comment
  GM2A	99.64	0	No comment
  GMNN	96.21	0	No comment
  GMPPA	99.75	0	No comment
  GMPPB	98.26	0	No comment
  GNAI1	98.99	0	No comment
  GNAI2	98.07	0	No comment
  GNAI3	97.86	0	No comment
  GNAL	97.43	0	No comment
  GNAO1	98.80	0	No comment
  GNAS	99.61	0	No comment
  GNB1	98.37	0	No comment
  GNB5	99.14	0	No comment
  GNE	99.40	0	No comment
  GNPAT	96.78	0	No comment
  GNPTAB	99.40	0	No comment
  GNPTG	97.82	0	No comment
  GNS	99.15	0	No comment
  GON4L	99.53	0	No comment
  GORAB	98.74	0	No comment
  GOSR2	99.40	0	No comment
  GOT2	99.15	0	No comment
  GPAA1	99.20	0	No comment
  GPC3	95.93	0	No comment
  GPC4	97.39	0	No comment
  GPHN	99.23	0	No comment
  ADGRG4	98.24	0	No comment
  ADGRG6	98.33	0	No comment
  GPR179	99.76	0	No comment
  ADGRG1	99.61	0	No comment
  ADGRV1	98.49	0	No comment
  GPRASP1	99.60	0	No comment
  GPSM2	98.63	0	No comment
  GPT2	95.94	0	No comment
  GRB14	97.87	0	No comment
  GRHL3	98.78	0	No comment
  GRIA1	98.02	0	No comment
  GRIA2	98.58	0	No comment
  GRIA3	92.43	0	No comment
  GRIA4	98.61	0	No comment
  GRID2	99.29	0	No comment
  GRIK2	99.11	0	No comment
  GRIN1	99.26	0	No comment
  GRIN2A	99.71	0	No comment
  GRIN2B	99.64	0	No comment
  GRIN2D	78.36	0	No comment
  GRIP1	99.51	0	No comment
  GRM1	98.88	0	No comment
  GRM6	93.42	0	No comment
  GRN	99.81	0	No comment
  GSPT2	99.68	0	No comment
  GSS	99.18	0	No comment
  GSX2	99.55	0	No comment
  GTF2E2	98.84	0	No comment
  GTF2H5	98.97	0	No comment
  GTF3C3	98.70	0	No comment
  GTPBP2	98.27	0	No comment
  GTPBP3	98.65	0	No comment
  GTPBP8	98.83	0	No comment
  GUCY2C	99.16	0	No comment
  GUSB	98.83	0	No comment
  GYS2	99.38	0	No comment
  H3-3A	99.28	0	No comment
  H3-3B	99.69	0	No comment
  HACE1	98.93	0	No comment
  HADH	98.21	0	No comment
  HADHA	99.44	0	No comment
  HADHB	99.06	0	No comment
  HARS2	97.76	0	No comment
  HAUS7	95.60	0	No comment
  HAX1	99.52	0	No comment
  HCCS	97.34	0	No comment
  HCFC1	97.80	0	No comment
  HCN1	98.04	0	No comment
  HDAC4	99.39	0	No comment
  HDAC6	97.59	0	No comment
  HDAC8	97.78	0	No comment
  PUDP	97.74	0	No comment
  HECW2	98.89	0	No comment
  HEPACAM	98.19	0	No comment
  HERC1	99.17	0	No comment
  HERC2	99.81	0	No comment
  HESX1	99.33	0	No comment
  HEXA	99.52	0	No comment
  HEXB	98.68	0	No comment
  HGSNAT	93.69	0	No comment
  HIBCH	99.31	0	No comment
  HINT1	99.52	0	No comment
  H1-4	98.83	0	No comment
  H4C2	99.68	0	No comment
  H4C3	99.67	0	No comment
  H4C11	99.75	0	No comment
  H3-4	99.95	0	No comment
  HIVEP2	99.83	0	No comment
  HK1	99.43	0	No comment
  HLCS	95.35	0	No comment
  HMGB3	95.15	0	No comment
  HMGCL	99.25	0	No comment
  HMGCS2	98.52	0	No comment
  HNF1B	99.68	0	No comment
  HNF4A	99.42	0	No comment
  HNMT	99.40	0	No comment
  HNRNPH2	98.98	0	No comment
  HNRNPK	99.14	0	No comment
  HNRNPR	99.29	0	No comment
  HNRNPU	99.13	0	No comment
  HOXA1	99.10	0	No comment
  HOXA13	75.31	0	No comment
  HOXC13	98.67	0	No comment
  HOXD10	99.56	0	No comment
  HOXD13	96.00	0	No comment
  HPD	99.12	0	No comment
  HPGD	98.68	0	No comment
  HPRT1	91.01	0	No comment
  HPS1	98.99	0	No comment
  HPSE2	99.23	0	No comment
  HR	98.73	0	No comment
  HRAS	99.96	0	No comment
  HS6ST2	98.48	0	No comment
  HSD17B10	99.12	0	No comment
  HSD17B4	98.53	0	No comment
  HSD3B7	93.20	0	No comment
  HSF4	98.76	0	No comment
  HSPD1	99.48	0	No comment
  HSPG2	99.24	0	No comment
  HTRA2	98.32	0	No comment
  HTT	98.29	0	No comment
  HUWE1	96.58	0	No comment
  HYAL1	99.27	0	No comment
  HYDIN	98.89	0	No comment
  HYLS1	99.56	0	No comment
  IARS1	98.84	0	No comment
  IARS2	98.71	0	No comment
  IBA57	96.07	0	No comment
  IDH2	94.56	0	No comment
  IDS	97.02	0	No comment
  IDUA	94.91	0	No comment
  IER3IP1	98.58	0	No comment
  IFIH1	98.73	0	No comment
  IFITM5	99.18	0	No comment
  IFNAR2	99.17	0	No comment
  IFT122	98.98	0	No comment
  IFT140	99.19	0	No comment
  IFT172	99.43	0	No comment
  IFT27	99.45	0	No comment
  IFT43	99.37	0	No comment
  IFT80	98.80	0	No comment
  IGBP1	98.38	0	No comment
  IGF1	98.50	0	No comment
  IGF1R	99.32	0	No comment
  IGF2	98.94	0	No comment
  IGHMBP2	99.36	0	No comment
  IGSF1	95.84	0	No comment
  IHH	98.73	0	No comment
  IKBKG	96.16	0	No comment
  IL11RA	99.17	0	No comment
  IL1RAPL1	97.07	0	No comment
  IL1RAPL2	97.20	0	No comment
  IL3RA	99.85	0	No comment
  ILF2	99.02	0	No comment
  BPNT2	99.21	0	No comment
  INF2	94.80	0	No comment
  INPP4A	99.16	0	No comment
  INPP5E	98.98	0	No comment
  INPP5K	99.11	0	No comment
  INPPL1	98.07	0	No comment
  INSR	96.93	0	No comment
  INTS1	99.07	0	No comment
  INTS6	98.76	0	No comment
  INTS8	97.79	0	No comment
  IQSEC1	96.84	0	No comment
  IQSEC2	88.71	0	No comment
  IQSEC3	99.28	0	No comment
  IRAK1	94.66	0	No comment
  IRF2BPL	97.48	0	No comment
  IRF6	98.80	0	No comment
  IRX5	98.01	0	No comment
  ISCA2	99.85	0	No comment
  CRPPA	86.74	0	No comment
  ITCH	94.90	0	No comment
  ITGA3	99.19	0	No comment
  ITGA4	96.65	0	No comment
  ITGA7	99.02	0	No comment
  ITGB6	99.17	0	No comment
  ITIH6	96.21	0	No comment
  ITPA	99.87	0	No comment
  ITPR1	98.49	0	No comment
  IVD	99.26	0	No comment
  JAG1	99.05	0	No comment
  JAGN1	99.34	0	No comment
  JAK3	98.80	0	No comment
  JAM3	98.99	0	No comment
  KANK1	98.55	0	No comment
  KANSL1	99.38	0	No comment
  KARS1	99.19	0	No comment
  KAT5	99.33	0	No comment
  KAT6A	99.45	0	No comment
  KAT6B	99.14	0	No comment
  KAT8	96.84	0	No comment
  KATNAL2	99.21	0	No comment
  KATNB1	99.24	0	No comment
  KBTBD13	98.92	0	No comment
  KCNA1	99.84	0	No comment
  KCNA2	99.87	0	No comment
  KCNB1	99.55	0	No comment
  KCNC1	99.57	0	No comment
  KCNC3	79.69	0	No comment
  KCND1	97.45	0	No comment
  KCND3	99.47	0	No comment
  KCNE1	99.99	0	No comment
  KCNH1	99.06	0	No comment
  KCNH5	98.52	0	No comment
  KCNJ10	99.06	0	No comment
  KCNJ11	99.50	0	No comment
  KCNJ6	99.58	0	No comment
  KCNK12	94.89	0	No comment
  KCNK4	98.87	0	No comment
  KCNK9	99.78	0	No comment
  KCNMA1	98.89	0	No comment
  KCNN3	99.58	0	No comment
  KCNQ1	94.82	0	No comment
  KCNQ2	98.91	0	No comment
  KCNQ3	97.63	0	No comment
  KCNQ5	98.24	0	No comment
  KCNT1	98.83	0	No comment
  KCNT2	98.81	0	No comment
  KCTD1	99.70	0	No comment
  KCTD3	99.34	0	No comment
  KCTD7	98.45	0	No comment
  KDM1A	97.93	0	No comment
  KDM3B	98.22	0	No comment
  KDM5A	99.06	0	No comment
  KDM5B	98.98	0	No comment
  KDM5C	98.12	0	No comment
  KDM6A	95.37	0	No comment
  KDM6B	97.67	0	No comment
  TMEM94	99.37	0	No comment
  WASHC5	98.20	0	No comment
  RUBCN	99.10	0	No comment
  KIAA0586	93.75	0	No comment
  KIAA1109	98.44	0	No comment
  KIFBP	99.27	0	No comment
  RIC1	99.07	0	No comment
  LNPK	99.07	0	No comment
  NEXMIF	99.59	0	No comment
  KIDINS220	99.40	0	No comment
  KIF11	98.60	0	No comment
  KIF14	98.97	0	No comment
  KIF1A	99.09	0	No comment
  KIF1C	99.18	0	No comment
  KIF21A	98.56	0	No comment
  KIF22	98.71	0	No comment
  KIF26B	99.62	0	No comment
  KIF2A	98.32	0	No comment
  KIF4A	96.82	0	No comment
  KIF5A	97.77	0	No comment
  KIF5C	96.11	0	No comment
  KIF7	96.34	0	No comment
  KIRREL3	98.99	0	No comment
  KIT	99.30	0	No comment
  KLF1	99.27	0	No comment
  KLF7	99.57	0	No comment
  KLF8	96.17	0	No comment
  KLHL15	99.48	0	No comment
  KLHL21	97.63	0	No comment
  KLHL34	97.50	0	No comment
  KLHL4	96.56	0	No comment
  KLHL40	99.52	0	No comment
  KLHL7	99.04	0	No comment
  KMT2A	98.08	0	No comment
  KMT2B	96.01	0	No comment
  KMT2C	99.21	0	No comment
  KMT2D	99.70	0	No comment
  KMT2E	98.57	0	No comment
  KPTN	98.80	0	No comment
  KRAS	97.27	0	No comment
  KRIT1	98.55	0	No comment
  L1CAM	97.47	0	No comment
  L2HGDH	98.33	0	No comment
  LAMA1	99.36	0	No comment
  LAMA2	99.11	0	No comment
  LAMB1	99.38	0	No comment
  LAMB2	99.40	0	No comment
  LAMC3	97.47	0	No comment
  LAMP2	95.99	0	No comment
  LARGE1	99.44	0	No comment
  LARP7	97.05	0	No comment
  LARS2	99.25	0	No comment
  LAS1L	98.38	0	No comment
  LBR	99.13	0	No comment
  LDB3	95.69	0	No comment
  LEMD3	98.30	0	No comment
  P3H1	99.32	0	No comment
  LFNG	80.45	0	No comment
  LGI1	99.81	0	No comment
  LGI4	99.14	0	No comment
  LHFPL3	95.05	0	No comment
  LHX3	99.03	0	No comment
  LHX4	99.11	0	No comment
  LIAS	98.84	0	No comment
  LIG4	99.71	0	No comment
  LIMK1	99.08	0	No comment
  LINGO1	99.68	0	No comment
  LINS1	98.96	0	No comment
  LIPT1	98.07	0	No comment
  LIPT2	97.11	0	No comment
  LITAF	99.34	0	No comment
  LMAN2L	99.15	0	No comment
  LMBRD1	96.71	0	No comment
  LMNA	98.89	0	No comment
  LMX1B	99.74	0	No comment
  LONP1	99.06	0	No comment
  LOXHD1	99.14	0	No comment
  LRAT	99.56	0	No comment
  LRP1	98.97	0	No comment
  LRP2	99.08	0	No comment
  LRP4	98.69	0	No comment
  LRP5	97.97	0	No comment
  LRPPRC	98.65	0	No comment
  LRRC32	99.45	0	No comment
  DNAAF11	99.52	0	No comment
  LRRK1	99.22	0	No comment
  LRRK2	98.24	0	No comment
  LSS	99.87	0	No comment
  LTBP2	98.85	0	No comment
  LTBP3	98.16	0	No comment
  LYRM7	95.36	0	No comment
  LYST	98.97	0	No comment
  LZTFL1	98.88	0	No comment
  LZTR1	99.05	0	No comment
  MAB21L1	99.89	0	No comment
  MAB21L2	99.46	0	No comment
  MACC1	99.56	0	No comment
  MACF1	98.64	0	No comment
  MADD	98.87	0	No comment
  MAF	78.51	0	No comment
  MAFB	99.20	0	No comment
  MAGEA11	99.42	0	No comment
  MAGEB1	99.65	0	No comment
  MAGEB10	99.72	0	No comment
  MAGEB2	99.51	0	No comment
  MAGEC1	98.27	0	No comment
  MAGEC3	96.41	0	No comment
  MAGED1	97.72	0	No comment
  MAGEL2	99.77	0	No comment
  MAGI2	92.15	0	No comment
  MAGIX	91.35	0	No comment
  MAGT1	95.72	0	No comment
  MAN1B1	97.68	0	No comment
  MAN2B1	98.69	0	No comment
  MANBA	98.99	0	No comment
  MAOA	92.59	0	No comment
  MAOB	96.46	0	No comment
  MAP1B	99.62	0	No comment
  MAP2K1	98.93	0	No comment
  MAP2K2	99.30	0	No comment
  MAP3K1	93.46	0	No comment
  MAP3K15	81.00	0	No comment
  MAP3K7	98.96	0	No comment
  MAP7D3	93.50	0	No comment
  MAPK10	99.23	0	No comment
  MAPK8IP3	99.17	0	No comment
  MAPRE2	99.34	0	No comment
  MAPT	99.44	0	No comment
  MASP1	99.32	0	No comment
  MAST1	98.94	0	No comment
  MAT1A	99.31	0	No comment
  MATN3	94.73	0	No comment
  MBD5	99.80	0	No comment
  MBNL3	97.64	0	No comment
  MBOAT7	99.23	0	No comment
  MBTPS2	97.35	0	No comment
  MC2R	99.83	0	No comment
  MCCC1	99.36	0	No comment
  MCCC2	99.42	0	No comment
  MCEE	99.73	0	No comment
  MCM3AP	99.17	0	No comment
  MCM9	99.49	0	No comment
  MCOLN1	98.09	0	No comment
  MCPH1	97.71	0	No comment
  MDH2	99.26	0	No comment
  MECP2	89.64	0	No comment
  MECR	98.83	0	No comment
  MED12	97.94	0	No comment
  MED12L	98.99	0	No comment
  MED13	98.50	0	No comment
  MED13L	99.39	0	No comment
  MED17	98.61	0	No comment
  MED23	98.85	0	No comment
  MED25	97.95	0	No comment
  MEF2C	99.19	0	No comment
  MEGF10	98.25	0	No comment
  MEGF8	99.01	0	No comment
  MEIS2	99.60	0	No comment
  MESP2	98.01	0	No comment
  MET	99.32	0	No comment
  METTL23	99.70	0	No comment
  METTL5	94.29	0	No comment
  MFF	98.90	0	No comment
  MFRP	98.32	0	No comment
  MFSD2A	98.61	0	No comment
  MFSD8	99.49	0	No comment
  MGAT2	99.31	0	No comment
  MGAT5B	98.30	0	No comment
  MGP	99.47	0	No comment
  MIB1	98.13	0	No comment
  MICU1	99.39	0	No comment
  MID1	98.26	0	No comment
  MITF	99.17	0	No comment
  MKKS	99.47	0	No comment
  MKS1	98.74	0	No comment
  MLC1	98.91	0	No comment
  MLH1	98.70	0	No comment
  MLYCD	94.43	0	No comment
  MMAA	98.59	0	No comment
  MMAB	99.44	0	No comment
  MMACHC	99.23	0	No comment
  MMADHC	98.97	0	No comment
  MMP13	98.47	0	No comment
  MMP21	97.96	0	No comment
  MN1	99.12	0	No comment
  MNX1	68.62	0	No comment
  MOCS1	99.12	0	No comment
  MOCS2	99.33	0	No comment
  MOGS	98.80	0	No comment
  MORC4	92.98	0	No comment
  MPDU1	97.72	0	No comment
  MPDZ	99.06	0	No comment
  MPI	99.09	0	No comment
  MPLKIP	99.41	0	No comment
  MPV17	99.32	0	No comment
  MPZ	99.26	0	No comment
  MRAP	99.40	0	No comment
  MRE11	98.82	0	No comment
  MRPS22	99.08	0	No comment
  MRPS34	97.34	0	No comment
  MSL3	95.17	0	No comment
  MSMO1	98.59	0	No comment
  MSX1	98.22	0	No comment
  MSX2	99.75	0	No comment
  MTF1	98.69	0	No comment
  MTFMT	98.17	0	No comment
  MTHFR	97.78	0	No comment
  MTM1	96.15	0	No comment
  MTMR1	88.31	0	No comment
  MTMR14	99.36	0	No comment
  MTMR2	98.85	0	No comment
  MTMR8	95.90	0	No comment
  MTO1	93.67	0	No comment
  MTOR	98.53	0	No comment
  MTPAP	98.83	0	No comment
  MTR	99.25	0	No comment
  MTRR	99.33	0	No comment
  MTTP	99.03	0	No comment
  MMUT	98.64	0	No comment
  MVK	99.52	0	No comment
  MXRA5	98.86	0	No comment
  MYBPC1	98.08	0	No comment
  MYCN	90.97	0	No comment
  MYH10	99.14	0	No comment
  MYH3	99.61	0	No comment
  MYH6	99.58	0	No comment
  MYH8	99.84	0	No comment
  MYH9	99.50	0	No comment
  MYO1D	99.24	0	No comment
  MYO1G	98.28	0	No comment
  MYO5A	98.89	0	No comment
  MYO5B	98.83	0	No comment
  MYO7A	99.30	0	No comment
  MYT1L	99.61	0	No comment
  NAA10	97.29	0	No comment
  NAA15	96.88	0	No comment
  NACC1	99.36	0	No comment
  NADK2	90.73	0	No comment
  NAGA	99.05	0	No comment
  NAGLU	92.35	0	No comment
  NAGS	99.13	0	No comment
  NALCN	99.30	0	No comment
  NANS	99.57	0	No comment
  NBAS	99.15	0	No comment
  NBEA	98.46	0	No comment
  NBN	98.71	0	No comment
  NCAPD2	99.26	0	No comment
  NCAPG2	98.85	0	No comment
  NCAPH	96.78	0	No comment
  NCKAP1	98.92	0	No comment
  NDE1	99.73	0	No comment
  NDN	97.93	0	No comment
  NDP	98.16	0	No comment
  NDRG1	99.86	0	No comment
  NDST1	99.02	0	No comment
  NDUFA1	98.51	0	No comment
  NDUFA10	99.01	0	No comment
  NDUFA11	90.58	0	No comment
  NDUFA12	99.80	0	No comment
  NDUFA9	98.99	0	No comment
  NDUFAF1	99.39	0	No comment
  NDUFAF2	98.80	0	No comment
  NDUFAF3	99.67	0	No comment
  NDUFAF5	99.09	0	No comment
  NDUFS1	98.99	0	No comment
  NDUFS2	97.41	0	No comment
  NDUFS3	99.78	0	No comment
  NDUFS4	97.48	0	No comment
  NDUFS7	99.69	0	No comment
  NDUFS8	98.57	0	No comment
  NDUFV1	99.26	0	No comment
  NEB	99.00	0	No comment
  NECAB2	87.19	0	No comment
  NECAP1	99.07	0	No comment
  NEDD4L	98.42	0	No comment
  NEK1	98.94	0	No comment
  NEU1	99.97	0	No comment
  NF1	98.44	0	No comment
  NFASC	98.10	0	No comment
  NFIA	97.99	0	No comment
  NFIB	98.14	0	No comment
  NFIX	97.92	0	No comment
  NFU1	99.67	0	No comment
  NGF	98.59	0	No comment
  NGLY1	99.36	0	No comment
  NHEJ1	99.58	0	No comment
  NHLRC1	99.86	0	No comment
  NHP2	99.45	0	No comment
  NHS	96.49	0	No comment
  NIPA1	90.55	0	No comment
  NIPBL	98.60	0	No comment
  NKAP	96.73	0	No comment
  NKX2-1	97.75	0	No comment
  NKX2-5	99.63	0	No comment
  NKX3-2	98.37	0	No comment
  NLGN3	98.40	0	No comment
  NLGN4X	99.13	0	No comment
  NLRP3	98.99	0	No comment
  NMNAT1	97.99	0	No comment
  NODAL	99.40	0	No comment
  NOG	99.12	0	No comment
  NONO	96.77	0	No comment
  NOP56	99.35	0	No comment
  NOTCH2	99.27	0	No comment
  NOVA2	89.97	0	No comment
  NPC1	98.89	0	No comment
  NPC2	99.66	0	No comment
  NPHP1	99.51	0	No comment
  NPHP3	98.74	0	No comment
  NPHP4	99.19	0	No comment
  NPHS1	99.44	0	No comment
  NPHS2	97.80	0	No comment
  NPR2	99.34	0	No comment
  NPR3	90.56	0	No comment
  NR1I3	99.14	0	No comment
  NR2F1	90.07	0	No comment
  NR2F2	98.87	0	No comment
  NR4A2	99.44	0	No comment
  NR5A1	97.66	0	No comment
  NRAS	98.92	0	No comment
  NRK	96.60	0	No comment
  NRROS	99.89	0	No comment
  NRXN1	99.17	0	No comment
  NRXN2	95.11	0	No comment
  NRXN3	99.23	0	No comment
  NSD1	98.92	0	No comment
  NSDHL	98.64	0	No comment
  NSF	98.09	0	No comment
  NSUN2	98.86	0	No comment
  NT5C2	98.94	0	No comment
  NT5C3A	98.92	0	No comment
  NTM	98.61	0	No comment
  NTNG1	99.58	0	No comment
  NTNG2	93.49	0	No comment
  NTRK1	98.79	0	No comment
  NTRK2	99.23	0	No comment
  NUBPL	99.17	0	No comment
  NUDT2	99.10	0	No comment
  NUP107	97.33	0	No comment
  NUP188	98.99	0	No comment
  NUP62	99.65	0	No comment
  NUS1	97.85	0	No comment
  NXF5	99.08	0	No comment
  NYX	92.34	0	No comment
  OBSL1	98.23	0	No comment
  OCLN	99.53	0	No comment
  OCRL	95.55	0	No comment
  ODC1	99.36	0	No comment
  ODF2L	97.74	0	No comment
  OFD1	93.09	0	No comment
  OGT	96.02	0	No comment
  OPA3	99.11	0	No comment
  OPHN1	93.40	0	No comment
  OR5M1	99.56	0	No comment
  ORC1	98.75	0	No comment
  ORC4	98.23	0	No comment
  ORC6	98.12	0	No comment
  OSGEP	99.20	0	No comment
  OTC	94.39	0	No comment
  OTOGL	91.23	0	No comment
  OTUD6B	97.21	0	No comment
  OTUD7A	84.64	0	No comment
  OTX2	99.74	0	No comment
  OXCT1	98.14	0	No comment
  P2RY4	99.46	0	No comment
  P2RY8	99.54	0	No comment
  P4HB	99.48	0	No comment
  P4HTM	95.19	0	No comment
  PABPC5	99.77	0	No comment
  PACS1	97.81	0	No comment
  PACS2	97.16	0	No comment
  PAFAH1B1	99.12	0	No comment
  PAH	99.36	0	No comment
  PAK1	89.41	0	No comment
  PAK3	93.85	0	No comment
  PALB2	99.35	0	No comment
  PANK2	98.65	0	No comment
  PAPSS2	97.09	0	No comment
  PRKN	99.61	0	No comment
  PARK7	98.71	0	No comment
  PARN	99.92	0	No comment
  PARP1	99.23	0	No comment
  PASD1	96.99	0	No comment
  PAX2	98.63	0	No comment
  PAX3	99.47	0	No comment
  PAX6	99.12	0	No comment
  PAX7	98.68	0	No comment
  PAX8	99.37	0	No comment
  PAX9	99.60	0	No comment
  PBRM1	99.04	0	No comment
  PBX1	98.79	0	No comment
  PC	99.26	0	No comment
  PCBD1	98.19	0	No comment
  PCCA	99.09	0	No comment
  PCCB	98.35	0	No comment
  PCDH10	99.56	0	No comment
  PCDH12	99.87	0	No comment
  PCDH19	99.27	0	No comment
  PCGF2	89.24	0	No comment
  PCLO	99.20	0	No comment
  PCNT	98.96	0	No comment
  PCYT1A	99.37	0	No comment
  PCYT2	93.96	0	No comment
  PDCD10	97.57	0	No comment
  PDE10A	99.49	0	No comment
  PDE4D	97.01	0	No comment
  PDE6D	99.57	0	No comment
  PDE6G	99.28	0	No comment
  PDGFB	99.27	0	No comment
  PDGFRB	98.98	0	No comment
  PDHA1	93.13	0	No comment
  PDHX	97.66	0	No comment
  PDSS1	88.79	0	No comment
  PDSS2	98.91	0	No comment
  PDYN	97.60	0	No comment
  PECR	98.78	0	No comment
  PEPD	99.16	0	No comment
  PET100	99.52	0	No comment
  PEX1	98.65	0	No comment
  PEX10	94.24	0	No comment
  PEX11B	98.16	0	No comment
  PEX12	98.98	0	No comment
  PEX13	99.29	0	No comment
  PEX14	99.37	0	No comment
  PEX16	99.69	0	No comment
  PEX19	98.79	0	No comment
  PEX2	99.69	0	No comment
  PEX26	98.07	0	No comment
  PEX3	98.18	0	No comment
  PEX5	98.49	0	No comment
  PEX6	98.82	0	No comment
  PEX7	98.38	0	No comment
  PGAP1	97.38	0	No comment
  PGAP2	99.62	0	No comment
  PGAP3	97.87	0	No comment
  PGK1	98.42	0	No comment
  PGM1	98.11	0	No comment
  PGM3	99.56	0	No comment
  PGRMC1	98.26	0	No comment
  PHACTR1	89.43	0	No comment
  PHC1	99.13	0	No comment
  PHF10	95.41	0	No comment
  PHF21A	98.68	0	No comment
  PHF6	87.29	0	No comment
  PHF8	98.16	0	No comment
  PHGDH	99.24	0	No comment
  PHIP	98.39	0	No comment
  PHKA1	96.26	0	No comment
  PHKA2	95.35	0	No comment
  PHKG2	99.76	0	No comment
  PHOX2B	94.35	0	No comment
  PIEZO2	98.61	0	No comment
  PIGA	96.21	0	No comment
  PIGB	99.29	0	No comment
  PIGC	99.49	0	No comment
  PIGG	99.35	0	No comment
  PIGH	99.72	0	No comment
  PIGK	97.34	0	No comment
  PIGL	99.60	0	No comment
  PIGN	97.35	0	No comment
  PIGO	99.30	0	No comment
  PIGP	97.65	0	No comment
  PIGQ	99.47	0	No comment
  PIGS	99.30	0	No comment
  PIGT	99.18	0	No comment
  PIGU	96.64	0	No comment
  PIGV	99.64	0	No comment
  PIGW	99.86	0	No comment
  PIGY	98.77	0	No comment
  PIK3C2A	98.95	0	No comment
  PIK3C3	98.08	0	No comment
  PIK3CA	98.58	0	No comment
  PIK3R1	98.70	0	No comment
  PIK3R2	92.16	0	No comment
  PIN4	94.34	0	No comment
  PINK1	96.58	0	No comment
  PITRM1	99.18	0	No comment
  PITX2	98.79	0	No comment
  PITX3	99.21	0	No comment
  PJA1	99.79	0	No comment
  PKD1L1	99.32	0	No comment
  PKHD1	99.32	0	No comment
  PLA2G6	99.38	0	No comment
  PLAA	99.25	0	No comment
  PLCB1	98.83	0	No comment
  PLCE1	98.80	0	No comment
  PLCXD1	96.54	0	No comment
  PLEC	99.59	0	No comment
  PLEKHG2	99.01	0	No comment
  PLK4	98.64	0	No comment
  PLOD1	98.15	0	No comment
  PLOD2	98.29	0	No comment
  PLOD3	98.92	0	No comment
  PLP1	98.91	0	No comment
  PLXNB3	98.08	0	No comment
  PMM2	97.92	0	No comment
  PMP22	99.70	0	No comment
  PMPCA	99.22	0	No comment
  PMPCB	98.76	0	No comment
  PMS2	98.73	0	No comment
  PNKD	99.01	0	No comment
  PNKP	99.38	0	No comment
  PNP	99.48	0	No comment
  PNPLA6	99.18	0	No comment
  PNPO	98.09	0	No comment
  PNPT1	98.94	0	No comment
  POC1A	98.69	0	No comment
  POC1B	98.91	0	No comment
  POGLUT1	99.01	0	No comment
  POGZ	99.08	0	No comment
  POLA1	93.70	0	No comment
  POLD1	99.32	0	No comment
  POLG	98.98	0	No comment
  POLR1C	99.42	0	No comment
  POLR1D	94.97	0	No comment
  POLR2A	93.09	0	No comment
  POLR3A	99.17	0	No comment
  POLR3B	98.52	0	No comment
  POMGNT1	98.91	0	No comment
  POMGNT2	99.93	0	No comment
  POMT1	99.40	0	No comment
  POMT2	98.43	0	No comment
  PORCN	98.49	0	No comment
  POU1F1	99.20	0	No comment
  POU3F3	72.47	0	No comment
  PPA2	98.38	0	No comment
  PPM1D	98.90	0	No comment
  PPOX	99.10	0	No comment
  PPP1CB	99.15	0	No comment
  PPP1R15B	99.76	0	No comment
  PPP1R1B	97.58	0	No comment
  PPP1R21	97.12	0	No comment
  PPP2CA	99.22	0	No comment
  PPP2R1A	99.53	0	No comment
  PPP2R2B	99.49	0	No comment
  PPP2R5D	99.23	0	No comment
  PPP3CA	97.94	0	No comment
  PPT1	99.42	0	No comment
  PQBP1	98.03	0	No comment
  PRDM12	87.59	0	No comment
  PRDX4	76.26	0	No comment
  PREPL	99.18	0	No comment
  PRICKLE1	99.56	0	No comment
  PRICKLE2	99.38	0	No comment
  PRICKLE3	96.71	0	No comment
  PRKAR1A	99.58	0	No comment
  PRKCG	99.43	0	No comment
  PRKD1	98.77	0	No comment
  PRKRA	99.26	0	No comment
  PRMT9	98.98	0	No comment
  PRMT7	98.06	0	No comment
  PRODH	98.11	0	No comment
  PROP1	99.63	0	No comment
  PLPBP	95.56	0	No comment
  PROX2	99.44	0	No comment
  PRPS1	95.38	0	No comment
  PRR12	98.27	0	No comment
  PRRG1	94.01	0	No comment
  PRRG3	97.85	0	No comment
  PRRT2	99.50	0	No comment
  PRSS12	99.22	0	No comment
  PRSS56	98.31	0	No comment
  PRUNE1	99.16	0	No comment
  PRX	99.79	0	No comment
  PSAP	99.57	0	No comment
  PSAT1	99.42	0	No comment
  PSEN1	99.47	0	No comment
  PSMA7	92.67	0	No comment
  PSMB8	99.96	0	No comment
  PSMD10	98.66	0	No comment
  PSMD12	99.46	0	No comment
  PSPH	99.39	0	No comment
  PTCH1	98.24	0	No comment
  PTCHD1	99.55	0	No comment
  PTDSS1	99.53	0	No comment
  PTEN	97.06	0	No comment
  PTF1A	84.73	0	No comment
  PTH1R	99.36	0	No comment
  PTHLH	99.63	0	No comment
  PTPN11	98.87	0	No comment
  PTPN21	99.21	0	No comment
  PTPN23	99.40	0	No comment
  PTRH2	99.69	0	No comment
  PTRHD1	99.61	0	No comment
  PTS	97.89	0	No comment
  PUF60	99.63	0	No comment
  PUM1	98.63	0	No comment
  PURA	95.31	0	No comment
  PUS1	93.61	0	No comment
  PUS3	99.35	0	No comment
  PUS7	99.26	0	No comment
  NECTIN1	99.41	0	No comment
  PYCR1	99.44	0	No comment
  PYCR2	98.91	0	No comment
  PYGL	99.15	0	No comment
  QARS1	99.24	0	No comment
  QDPR	99.29	0	No comment
  QKI	99.00	0	No comment
  QRICH1	99.47	0	No comment
  RAB11A	99.26	0	No comment
  RAB11B	99.79	0	No comment
  RAB18	98.52	0	No comment
  RAB23	98.94	0	No comment
  RAB27A	96.61	0	No comment
  RAB39B	99.40	0	No comment
  RAB3GAP1	98.90	0	No comment
  RAB3GAP2	99.12	0	No comment
  RAB40AL	99.76	0	No comment
  RABL6	99.51	0	No comment
  RAC1	98.23	0	No comment
  NCOA3	95.06	0	No comment
  RAD21	98.41	0	No comment
  RAD50	97.32	0	No comment
  RAD51	86.56	0	No comment
  RAD51C	98.85	0	No comment
  RAF1	99.16	0	No comment
  RAI1	99.61	0	No comment
  RALA	96.03	0	No comment
  RALGAPA1	98.41	0	No comment
  RALGDS	95.93	0	No comment
  RANBP17	98.36	0	No comment
  RANBP2	99.68	0	No comment
  RAPGEF1	99.41	0	No comment
  RAPSN	99.04	0	No comment
  RARB	99.38	0	No comment
  RARS1	97.45	0	No comment
  RARS2	99.01	0	No comment
  RASA1	97.27	0	No comment
  RAX	93.04	0	No comment
  RBBP8	97.45	0	No comment
  RBFOX1	97.68	0	No comment
  RBL2	98.08	0	No comment
  RBM10	97.07	0	No comment
  RBM28	99.52	0	No comment
  RBM8A	99.76	0	No comment
  RBPJ	99.63	0	No comment
  RECQL4	98.44	0	No comment
  REEP1	98.11	0	No comment
  REEP2	98.01	0	No comment
  RELN	99.14	0	No comment
  RENBP	93.79	0	No comment
  RERE	97.47	0	No comment
  RET	98.30	0	No comment
  RFT1	97.40	0	No comment
  RFX6	98.63	0	No comment
  RTL9	99.02	0	No comment
  RGN	96.72	0	No comment
  RGS7	99.42	0	No comment
  RHEB	99.03	0	No comment
  RHOBTB2	98.98	0	No comment
  RIMS1	98.15	0	No comment
  RIPK4	99.54	0	No comment
  RIT1	99.28	0	No comment
  RLIM	99.09	0	No comment
  RMND1	99.20	0	No comment
  RNASEH2A	99.80	0	No comment
  RNASEH2B	94.50	0	No comment
  RNASEH2C	99.62	0	No comment
  RNASET2	99.20	0	No comment
  RNF113A	99.44	0	No comment
  RNF125	98.59	0	No comment
  RNF13	97.23	0	No comment
  RNF135	98.54	0	No comment
  RNF168	99.46	0	No comment
  RNF216	99.40	0	No comment
  ROBO3	98.40	0	No comment
  ROGDI	96.44	0	No comment
  ROR2	97.79	0	No comment
  RORA	99.37	0	No comment
  RORB	99.16	0	No comment
  RPE65	99.50	0	No comment
  RPGR	91.56	0	No comment
  RPGRIP1	98.66	0	No comment
  RPGRIP1L	95.87	0	No comment
  RPIA	97.45	0	No comment
  RPL10	97.70	0	No comment
  RPS19	98.91	0	No comment
  RPS23	99.81	0	No comment
  RPS6KA3	91.96	0	No comment
  RRAS	94.70	0	No comment
  RRM2B	98.76	0	No comment
  RSPH1	99.58	0	No comment
  RSPH3	99.23	0	No comment
  RSPO4	99.59	0	No comment
  RSPRY1	98.70	0	No comment
  RSRC1	94.18	0	No comment
  RTEL1	99.53	0	No comment
  RTN2	99.37	0	No comment
  RTN4IP1	98.71	0	No comment
  RTTN	98.24	0	No comment
  RUNX2	99.01	0	No comment
  RUSC2	99.39	0	No comment
  RYR1	97.61	0	No comment
  RYR3	99.20	0	No comment
  SACS	99.78	0	No comment
  SALL1	99.82	0	No comment
  SALL4	99.82	0	No comment
  SAMD9	99.90	0	No comment
  SAMHD1	99.51	0	No comment
  SARS2	99.19	0	No comment
  SATB1	99.00	0	No comment
  SATB2	99.38	0	No comment
  SBDS	99.45	0	No comment
  SBF1	99.15	0	No comment
  SBF2	98.85	0	No comment
  SC5D	98.71	0	No comment
  SCAF4	98.85	0	No comment
  SCAMP5	99.20	0	No comment
  SCAPER	98.60	0	No comment
  SCARB2	99.18	0	No comment
  SCARF2	93.83	0	No comment
  SCN11A	98.88	0	No comment
  SCN1A	98.90	0	No comment
  SCN1B	95.08	0	No comment
  SCN2A	99.00	0	No comment
  SCN3A	99.17	0	No comment
  SCN4A	98.53	0	No comment
  SCN8A	96.15	0	No comment
  SCN9A	98.95	0	No comment
  SCO1	99.42	0	No comment
  SCO2	95.41	0	No comment
  SCRIB	99.36	0	No comment
  SCYL1	98.07	0	No comment
  SDCCAG8	99.21	0	No comment
  SDHA	98.78	0	No comment
  SDHAF1	95.67	0	No comment
  SEC23B	98.95	0	No comment
  SEC31A	98.89	0	No comment
  SEPSECS	98.34	0	No comment
  SERAC1	98.92	0	No comment
  SET	99.64	0	No comment
  SETBP1	96.95	0	No comment
  SETD1A	98.37	0	No comment
  SETD1B	95.43	0	No comment
  SETD2	99.04	0	No comment
  SETD5	99.01	0	No comment
  SETDB2	98.15	0	No comment
  SETX	99.48	0	No comment
  SF3B4	98.95	0	No comment
  SGCA	99.28	0	No comment
  SGCE	93.44	0	No comment
  SGPL1	98.02	0	No comment
  SGSH	99.56	0	No comment
  SH3PXD2B	98.34	0	No comment
  SH3TC2	99.47	0	No comment
  SHANK1	95.42	0	No comment
  SHANK2	95.90	0	No comment
  SHANK3	84.05	0	No comment
  SHH	97.41	0	No comment
  SHOC2	98.50	0	No comment
  SHOX	99.66	0	No comment
  SHROOM2	96.54	0	No comment
  SHROOM4	98.99	0	No comment
  SIGMAR1	99.83	0	No comment
  SIK1	99.55	0	No comment
  SIL1	99.44	0	No comment
  SIN3A	99.40	0	No comment
  SIX1	99.50	0	No comment
  SIX3	98.04	0	No comment
  SIX5	96.91	0	No comment
  SKI	94.70	0	No comment
  SKIC2	99.87	0	No comment
  SLC12A5	98.41	0	No comment
  SLC12A6	98.39	0	No comment
  SLC13A5	98.63	0	No comment
  SLC16A2	99.13	0	No comment
  SLC17A5	98.11	0	No comment
  SLC19A3	98.65	0	No comment
  SLC1A1	99.06	0	No comment
  SLC1A2	98.81	0	No comment
  SLC1A4	99.04	0	No comment
  SLC20A2	98.04	0	No comment
  SLC22A5	99.51	0	No comment
  SLC25A1	93.07	0	No comment
  SLC25A12	98.89	0	No comment
  SLC25A13	99.00	0	No comment
  SLC25A15	99.02	0	No comment
  SLC25A19	98.60	0	No comment
  SLC25A20	96.95	0	No comment
  SLC25A22	98.89	0	No comment
  SLC25A24	99.54	0	No comment
  SLC25A26	99.04	0	No comment
  SLC25A38	99.44	0	No comment
  SLC25A53	99.18	0	No comment
  SLC25A6	93.97	0	No comment
  SLC26A2	99.60	0	No comment
  SLC26A9	98.51	0	No comment
  SLC27A4	99.39	0	No comment
  SLC2A1	99.21	0	No comment
  SLC2A10	99.62	0	No comment
  SLC2A2	98.55	0	No comment
  SLC30A9	98.53	0	No comment
  SLC31A1	98.80	0	No comment
  SLC33A1	98.15	0	No comment
  SLC35A1	98.63	0	No comment
  SLC35A2	98.33	0	No comment
  SLC35A3	98.16	0	No comment
  SLC35C1	99.23	0	No comment
  SLC35D1	97.31	0	No comment
  SLC39A13	99.08	0	No comment
  SLC39A14	99.48	0	No comment
  SLC39A8	99.08	0	No comment
  SLC45A1	99.36	0	No comment
  SLC46A1	99.30	0	No comment
  SLC4A1	95.32	0	No comment
  SLC4A11	99.30	0	No comment
  SLC4A4	98.81	0	No comment
  SLC52A3	99.86	0	No comment
  SLC5A2	99.60	0	No comment
  SLC5A5	98.75	0	No comment
  SLC5A6	99.13	0	No comment
  SLC5A7	99.53	0	No comment
  SLC6A1	98.74	0	No comment
  SLC6A17	98.68	0	No comment
  SLC6A19	99.55	0	No comment
  SLC6A3	99.88	0	No comment
  SLC6A4	99.05	0	No comment
  SLC6A5	99.35	0	No comment
  SLC6A8	91.92	0	No comment
  SLC6A9	99.08	0	No comment
  SLC7A7	99.58	0	No comment
  SLC9A6	89.27	0	No comment
  SLC9A9	98.10	0	No comment
  SLX4	99.16	0	No comment
  SMAD3	98.93	0	No comment
  SMAD4	99.09	0	No comment
  SMARCA1	93.45	0	No comment
  SMARCA2	96.71	0	No comment
  SMARCA4	98.96	0	No comment
  SMARCAL1	99.40	0	No comment
  SMARCB1	99.67	0	No comment
  SMARCC1	98.91	0	No comment
  SMARCC2	98.49	0	No comment
  SMARCD1	98.02	0	No comment
  SMARCD2	89.27	0	No comment
  SMARCD3	95.19	0	No comment
  SMARCE1	99.13	0	No comment
  SMC1A	97.63	0	No comment
  SMC3	98.43	0	No comment
  SMCHD1	96.94	0	No comment
  SMG9	99.03	0	No comment
  SMO	97.34	0	No comment
  SMOC1	99.47	0	No comment
  SMPD1	99.59	0	No comment
  SMPD4	99.16	0	No comment
  SMS	93.00	0	No comment
  SNAP25	99.07	0	No comment
  SNAP29	97.81	0	No comment
  SNCA	99.88	0	No comment
  SNIP1	99.49	0	No comment
  SNRPB	99.04	0	No comment
  SNTG1	99.41	0	No comment
  SNX14	98.24	0	No comment
  SNX27	97.42	0	No comment
  SNX3	97.57	0	No comment
  SOBP	91.72	0	No comment
  SON	99.58	0	No comment
  SOS1	98.49	0	No comment
  SOS2	98.44	0	No comment
  SOX10	99.18	0	No comment
  SOX11	98.67	0	No comment
  SOX17	99.36	0	No comment
  SOX2	99.09	0	No comment
  SOX3	92.70	0	No comment
  SOX4	92.73	0	No comment
  SOX5	99.41	0	No comment
  SOX6	98.79	0	No comment
  SOX9	98.76	0	No comment
  SPAG1	92.96	0	No comment
  SPAST	98.37	0	No comment
  AFG2A	98.79	0	No comment
  SPECC1L	99.39	0	No comment
  SPEG	98.56	0	No comment
  SPG11	98.94	0	No comment
  SPART	99.65	0	No comment
  SPG21	99.56	0	No comment
  SPG7	97.12	0	No comment
  SPR	96.31	0	No comment
  SPRED1	99.02	0	No comment
  SPRTN	98.90	0	No comment
  SPRY3	99.98	0	No comment
  SPTAN1	98.92	0	No comment
  SPTBN2	99.21	0	No comment
  SPTLC1	99.27	0	No comment
  SPTLC2	97.79	0	No comment
  SRCAP	99.48	0	No comment
  SRD5A3	99.57	0	No comment
  SREBF2	98.39	0	No comment
  SRGAP3	99.31	0	No comment
  SRP54	98.17	0	No comment
  SRPX2	97.52	0	No comment
  SRY	49.45	0	No comment
  SSR4	96.62	0	No comment
  ST3GAL3	99.33	0	No comment
  ST3GAL5	95.14	0	No comment
  STAB2	99.01	0	No comment
  STAG1	98.53	0	No comment
  STAG2	88.40	0	No comment
  STAMBP	99.15	0	No comment
  STAR	98.82	0	No comment
  STARD8	98.62	0	No comment
  STAT1	99.43	0	No comment
  STAT5B	99.51	0	No comment
  STIL	99.10	0	No comment
  STRA6	98.39	0	No comment
  STRADA	98.02	0	No comment
  STS	94.96	0	No comment
  STT3A	99.15	0	No comment
  STT3B	97.48	0	No comment
  STUB1	98.49	0	No comment
  STX11	99.96	0	No comment
  STX1B	99.29	0	No comment
  STX3	99.34	0	No comment
  STXBP1	99.41	0	No comment
  SUCLG1	97.18	0	No comment
  SUFU	97.89	0	No comment
  SUMF1	99.40	0	No comment
  SUOX	99.68	0	No comment
  SURF1	97.97	0	No comment
  KMT5B	99.52	0	No comment
  SYN1	90.54	0	No comment
  SYNCRIP	99.53	0	No comment
  SYNE1	99.37	0	No comment
  SYNGAP1	97.57	0	No comment
  SYNJ1	98.62	0	No comment
  SYP	98.38	0	No comment
  SYT1	98.69	0	No comment
  SYT14	92.68	0	No comment
  SYTL4	95.73	0	No comment
  SYTL5	95.65	0	No comment
  SZT2	99.40	0	No comment
  TAB2	99.63	0	No comment
  TACO1	99.03	0	No comment
  TAF1	96.88	0	No comment
  TAF13	99.08	0	No comment
  TAF2	98.77	0	No comment
  TAF6	98.77	0	No comment
  TAF7L	96.34	0	No comment
  TANC2	99.08	0	No comment
  TANGO2	99.49	0	No comment
  TAOK1	98.85	0	No comment
  TARDBP	98.93	0	No comment
  TAT	99.63	0	No comment
  TAFAZZIN	98.45	0	No comment
  TBC1D20	96.79	0	No comment
  TBC1D23	96.93	0	No comment
  TBC1D24	99.04	0	No comment
  TBC1D7	99.38	0	No comment
  TBC1D8B	94.09	0	No comment
  TBCD	99.00	0	No comment
  TBCE	97.65	0	No comment
  TBCK	98.11	0	No comment
  TBL1XR1	99.36	0	No comment
  TBP	94.39	0	No comment
  TBR1	97.83	0	No comment
  TBX1	80.23	0	No comment
  TBX15	99.32	0	No comment
  TBX20	98.62	0	No comment
  TBX22	98.45	0	No comment
  TBX3	99.44	0	No comment
  TBX4	96.92	0	No comment
  TBX5	99.04	0	No comment
  TBXAS1	99.15	0	No comment
  TCEAL3	98.98	0	No comment
  TCF12	99.27	0	No comment
  TCF20	99.92	0	No comment
  TCF4	98.18	0	No comment
  TCN2	99.16	0	No comment
  TCOF1	98.98	0	No comment
  TCP10L2	96.65	0	No comment
  TCTN1	99.23	0	No comment
  TCTN2	98.51	0	No comment
  TCTN3	99.33	0	No comment
  TDP2	98.45	0	No comment
  TECPR2	97.98	0	No comment
  TECR	99.15	0	No comment
  TEK	98.69	0	No comment
  TELO2	98.42	0	No comment
  TENM1	97.40	0	No comment
  TERT	97.99	0	No comment
  TFAP2A	99.10	0	No comment
  TFAP2B	99.67	0	No comment
  TFB2M	97.77	0	No comment
  TFE3	97.18	0	No comment
  TFG	97.71	0	No comment
  TGDS	98.69	0	No comment
  TGFB1	98.69	0	No comment
  TGFB2	99.24	0	No comment
  TGFB3	98.80	0	No comment
  TGFBR1	94.44	0	No comment
  TGFBR2	99.42	0	No comment
  TGIF1	99.54	0	No comment
  TGM6	99.52	0	No comment
  TH	98.92	0	No comment
  THAP1	99.83	0	No comment
  THOC2	95.28	0	No comment
  THOC6	99.31	0	No comment
  THRA	98.88	0	No comment
  THRB	99.50	0	No comment
  THUMPD1	97.86	0	No comment
  TIMM50	99.61	0	No comment
  TIMM8A	98.50	0	No comment
  TINF2	99.50	0	No comment
  TK2	96.78	0	No comment
  TKT	97.27	0	No comment
  TKTL1	96.74	0	No comment
  TLK2	98.47	0	No comment
  TLR8	97.46	0	No comment
  TM4SF20	99.00	0	No comment
  TMCO1	94.77	0	No comment
  TMEM126B	97.26	0	No comment
  TMEM132E	98.50	0	No comment
  TMEM135	98.43	0	No comment
  TMEM165	94.88	0	No comment
  TMEM216	99.71	0	No comment
  TMEM231	99.23	0	No comment
  TMEM237	97.63	0	No comment
  TMEM240	99.05	0	No comment
  TMEM260	98.99	0	No comment
  RXYLT1	98.12	0	No comment
  TMEM67	96.82	0	No comment
  TMEM70	99.03	0	No comment
  TMLHE	95.63	0	No comment
  TMPRSS6	99.18	0	No comment
  TMTC3	98.30	0	No comment
  TMX2	99.71	0	No comment
  TNIK	98.61	0	No comment
  TNKS2	98.85	0	No comment
  TNPO2	99.19	0	No comment
  TNRC6B	99.23	0	No comment
  TOE1	99.29	0	No comment
  TOMM70	98.81	0	No comment
  TOR1A	99.40	0	No comment
  TP63	99.19	0	No comment
  TPH2	99.50	0	No comment
  TPK1	98.78	0	No comment
  TPP1	99.55	0	No comment
  TRAF7	99.15	0	No comment
  TRAIP	99.21	0	No comment
  TRAK1	99.03	0	No comment
  TRAPPC11	99.04	0	No comment
  TRAPPC12	99.42	0	No comment
  TRAPPC2	95.98	0	No comment
  TRAPPC4	99.44	0	No comment
  TRAPPC6A	98.87	0	No comment
  TRAPPC6B	98.72	0	No comment
  TRAPPC9	99.07	0	No comment
  TREX1	99.86	0	No comment
  TREX2	96.69	0	No comment
  TRHR	99.49	0	No comment
  TRIM32	99.91	0	No comment
  TRIM37	99.00	0	No comment
  TRIM8	98.75	0	No comment
  TRIO	96.38	0	No comment
  TRIP11	99.09	0	No comment
  TRIP12	98.93	0	No comment
  TRIP13	96.31	0	No comment
  TRIT1	99.11	0	No comment
  TRMT1	98.51	0	No comment
  TRMT10A	99.25	0	No comment
  TRPM1	99.80	0	No comment
  TRPM3	99.30	0	No comment
  TRPS1	99.67	0	No comment
  TRPV4	98.68	0	No comment
  TRRAP	98.54	0	No comment
  TSC1	99.22	0	No comment
  TSC2	98.76	0	No comment
  TSC22D3	98.85	0	No comment
  TSEN15	99.17	0	No comment
  TSEN2	99.38	0	No comment
  TSEN34	99.39	0	No comment
  TSEN54	96.81	0	No comment
  TSFM	91.27	0	No comment
  TSHB	99.78	0	No comment
  TSHR	99.48	0	No comment
  TSPAN7	97.97	0	No comment
  TSPAN8	98.82	0	No comment
  TTBK2	98.86	0	No comment
  TTC19	96.22	0	No comment
  SKIC3	99.15	0	No comment
  TTC5	99.03	0	No comment
  TTC7A	98.98	0	No comment
  TTC8	98.53	0	No comment
  TTI2	99.31	0	No comment
  TTN	99.43	0	No comment
  TTPA	96.73	0	No comment
  TTR	98.18	0	No comment
  TUBA1A	99.98	0	No comment
  TUBA8	99.57	0	No comment
  TUBAL3	99.75	0	No comment
  TUBB	99.92	0	No comment
  TUBB2A	99.92	0	No comment
  TUBB2B	99.64	0	No comment
  TUBB3	99.69	0	No comment
  TUBB4A	99.78	0	No comment
  TUBG1	99.68	0	No comment
  TUBGCP4	98.92	0	No comment
  TUBGCP6	99.55	0	No comment
  TUFM	99.36	0	No comment
  TUSC3	99.50	0	No comment
  TWIST1	87.92	0	No comment
  TWIST2	99.24	0	No comment
  TXNL4A	99.72	0	No comment
  TYR	99.29	0	No comment
  TYRP1	99.39	0	No comment
  UBA5	98.17	0	No comment
  UBE2A	88.22	0	No comment
  UBE3A	99.06	0	No comment
  UBE3B	98.65	0	No comment
  UBR1	99.11	0	No comment
  UBR4	98.90	0	No comment
  UBR7	97.01	0	No comment
  UBTF	99.61	0	No comment
  UFC1	99.37	0	No comment
  UFM1	99.16	0	No comment
  UGP2	98.46	0	No comment
  UGT1A1	99.45	0	No comment
  UMPS	98.48	0	No comment
  UNC13A	99.25	0	No comment
  UNC80	98.86	0	No comment
  UPB1	99.39	0	No comment
  UPF3B	94.60	0	No comment
  UQCRB	99.87	0	No comment
  UQCRQ	99.36	0	No comment
  UROC1	99.06	0	No comment
  UROS	99.56	0	No comment
  USB1	99.41	0	No comment
  USP18	99.79	0	No comment
  USP27X	99.46	0	No comment
  USP7	99.02	0	No comment
  USP9X	95.44	0	No comment
  UTP14A	97.77	0	No comment
  UVSSA	99.24	0	No comment
  VAMP1	96.99	0	No comment
  VAMP2	99.53	0	No comment
  VAMP7	96.50	0	No comment
  VARS1	99.74	0	No comment
  VDR	97.94	0	No comment
  CPAMD8	98.98	0	No comment
  VIPAS39	98.17	0	No comment
  VLDLR	99.08	0	No comment
  VPS11	99.39	0	No comment
  VPS13B	98.28	0	No comment
  VPS33B	99.23	0	No comment
  VPS35	99.22	0	No comment
  VPS51	99.19	0	No comment
  VPS53	97.29	0	No comment
  VRK1	98.70	0	No comment
  VSX2	98.36	0	No comment
  WAC	98.16	0	No comment
  WARS2	99.20	0	No comment
  WASF1	98.47	0	No comment
  WDFY3	99.10	0	No comment
  WDPCP	98.96	0	No comment
  WDR11	99.19	0	No comment
  WDR13	96.77	0	No comment
  WDR19	98.40	0	No comment
  WDR26	98.93	0	No comment
  DYNC2I2	98.79	0	No comment
  WDR35	99.09	0	No comment
  WDR37	99.18	0	No comment
  WDR4	98.27	0	No comment
  WDR45	97.90	0	No comment
  WDR45B	99.15	0	No comment
  DYNC2I1	98.85	0	No comment
  WDR62	99.01	0	No comment
  WDR73	99.05	0	No comment
  WDR81	99.65	0	No comment
  WFS1	99.63	0	No comment
  NSD2	99.05	0	No comment
  WIPI2	98.93	0	No comment
  WNK3	97.70	0	No comment
  WNT1	98.69	0	No comment
  WNT10B	98.91	0	No comment
  WNT3	99.00	0	No comment
  WNT4	93.68	0	No comment
  WNT5A	98.73	0	No comment
  WNT7A	99.49	0	No comment
  WRAP53	98.86	0	No comment
  WRN	98.36	0	No comment
  WT1	98.77	0	No comment
  WWC3	96.63	0	No comment
  WWOX	99.58	0	No comment
  XIAP	97.48	0	No comment
  XK	96.00	0	No comment
  XKRX	98.90	0	No comment
  XPA	99.29	0	No comment
  XPC	98.92	0	No comment
  XPNPEP3	99.18	0	No comment
  XRCC4	98.59	0	No comment
  XYLT1	90.22	0	No comment
  YAP1	98.22	0	No comment
  YARS1	99.78	0	No comment
  YWHAG	99.64	0	No comment
  YY1	98.44	0	No comment
  ZBTB11	99.16	0	No comment
  ZBTB16	99.58	0	No comment
  ZBTB18	98.72	0	No comment
  ZBTB20	99.54	0	No comment
  ZBTB24	99.82	0	No comment
  ZBTB40	99.17	0	No comment
  ZC3H14	98.92	0	No comment
  ZC4H2	96.37	0	No comment
  ZCCHC12	98.81	0	No comment
  ZCCHC8	92.04	0	No comment
  ZDHHC15	90.89	0	No comment
  ZDHHC9	97.43	0	No comment
  ZEB2	98.91	0	No comment
  ZFHX4	99.34	0	No comment
  ZFP57	99.93	0	No comment
  ZFX	98.98	0	No comment
  ZFYVE26	99.08	0	No comment
  ZIC1	99.80	0	No comment
  ZIC2	89.81	0	No comment
  ZIC3	99.00	0	No comment
  ZMIZ1	99.16	0	No comment
  ZMPSTE24	98.12	0	No comment
  ZMYM3	97.06	0	No comment
  ZMYM6	98.59	0	No comment
  ZMYND11	99.29	0	No comment
  ZMYND12	98.18	0	No comment
  ZNF142	99.52	0	No comment
  ZNF148	99.29	0	No comment
  ZNF292	99.59	0	No comment
  ZNF335	98.86	0	No comment
  ZNF41	99.12	0	No comment
  ZNF425	99.39	0	No comment
  ZNF462	99.73	0	No comment
  ZNF526	99.70	0	No comment
  ZNF592	99.65	0	No comment
  ZNF599	99.82	0	No comment
  ZNF674	98.90	0	No comment
  ZNF711	97.16	0	No comment
  ZNF713	99.38	0	No comment
  ZNF81	99.07	0	No comment
  ZSWIM6	88.76	0	No comment

• Maffucci syndrome (65 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABL1	0.00	0	Only hotspots in the gene
  AKT1	0.00	0	Only hotspots in the gene
  ALK	0.00	0	Only hotspots in the gene
  APC	0.00	0	Only hotspots in the gene
  ATM	0.00	0	Only hotspots in the gene
  BRAF	0.00	0	Only hotspots in the gene
  BRCA1	0.00	0	Only hotspots in the gene
  BRCA2	0.00	0	Only hotspots in the gene
  CDH1	0.00	0	Only hotspots in the gene
  CDKN2A	0.00	0	Only hotspots in the gene
  CSF1R	0.00	0	Only hotspots in the gene
  CTNNB1	0.00	0	Only hotspots in the gene
  DDR2	0.00	0	Only hotspots in the gene
  DNMT3A	0.00	0	Only hotspots in the gene
  EGFR	0.00	0	Only hotspots in the gene
  ERBB2	0.00	0	Only hotspots in the gene
  ERBB3	0.00	0	Only hotspots in the gene
  ERBB4	0.00	0	Only hotspots in the gene
  EZH2	0.00	0	Only hotspots in the gene
  FBXW7	0.00	0	Only hotspots in the gene
  FGFR1	0.00	0	Only hotspots in the gene
  FGFR2	0.00	0	Only hotspots in the gene
  FGFR3	0.00	0	Only hotspots in the gene
  FLT3	0.00	0	Only hotspots in the gene
  FOXL2	0.00	0	Only hotspots in the gene
  GNA11	0.00	0	Only hotspots in the gene
  GNAQ	0.00	0	Only hotspots in the gene
  GNAS	0.00	0	Only hotspots in the gene
  HNF1A	0.00	0	Only hotspots in the gene
  HRAS	0.00	0	Only hotspots in the gene
  IDH1	0.00	0	Only hotspots in the gene
  IDH2	0.00	0	Only hotspots in the gene
  JAK2	0.00	0	Only hotspots in the gene
  JAK3	0.00	0	Only hotspots in the gene
  KDR	0.00	0	Only hotspots in the gene
  KIT	0.00	0	Only hotspots in the gene
  KRAS	0.00	0	Only hotspots in the gene
  MAP2K1	0.00	0	Only hotspots in the gene
  MET	0.00	0	Only hotspots in the gene
  MLH1	0.00	0	Only hotspots in the gene
  MPL	0.00	0	Only hotspots in the gene
  MSH6	0.00	0	Only hotspots in the gene
  MTOR	0.00	0	Only hotspots in the gene
  NF1	0.00	0	Only hotspots in the gene
  NF2	0.00	0	Only hotspots in the gene
  NOTCH1	0.00	0	Only hotspots in the gene
  NPM1	0.00	0	Only hotspots in the gene
  NRAS	0.00	0	Only hotspots in the gene
  PDGFRA	0.00	0	Only hotspots in the gene
  PIK3CA	0.00	0	Only hotspots in the gene
  PIK3R1	0.00	0	Only hotspots in the gene
  PTCH1	0.00	0	Only hotspots in the gene
  PTEN	0.00	0	Only hotspots in the gene
  PTPN11	0.00	0	Only hotspots in the gene
  RB1	0.00	0	Only hotspots in the gene
  RET	0.00	0	Only hotspots in the gene
  SMAD4	0.00	0	Only hotspots in the gene
  SMARCB1	0.00	0	Only hotspots in the gene
  SMO	0.00	0	Only hotspots in the gene
  SRC	0.00	0	Only hotspots in the gene
  STK11	0.00	0	Only hotspots in the gene
  TERT	0.00	0	Only hotspots in the gene
  TP53	0.00	0	Only hotspots in the gene
  TSC1	0.00	0	Only hotspots in the gene
  VHL	0.00	0	Only hotspots in the gene

• Overgrowth & vascular anomalies (65 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABL1	0.00	0	Only hotspots in the gene
  AKT1	0.00	0	Only hotspots in the gene
  ALK	0.00	0	Only hotspots in the gene
  APC	0.00	0	Only hotspots in the gene
  ATM	0.00	0	Only hotspots in the gene
  BRAF	0.00	0	Only hotspots in the gene
  BRCA1	0.00	0	Only hotspots in the gene
  BRCA2	0.00	0	Only hotspots in the gene
  CDH1	0.00	0	Only hotspots in the gene
  CDKN2A	0.00	0	Only hotspots in the gene
  CSF1R	0.00	0	Only hotspots in the gene
  CTNNB1	0.00	0	Only hotspots in the gene
  DDR2	0.00	0	Only hotspots in the gene
  DNMT3A	0.00	0	Only hotspots in the gene
  EGFR	0.00	0	Only hotspots in the gene
  ERBB2	0.00	0	Only hotspots in the gene
  ERBB3	0.00	0	Only hotspots in the gene
  ERBB4	0.00	0	Only hotspots in the gene
  EZH2	0.00	0	Only hotspots in the gene
  FBXW7	0.00	0	Only hotspots in the gene
  FGFR1	0.00	0	Only hotspots in the gene
  FGFR2	0.00	0	Only hotspots in the gene
  FGFR3	0.00	0	Only hotspots in the gene
  FLT3	0.00	0	Only hotspots in the gene
  FOXL2	0.00	0	Only hotspots in the gene
  GNA11	0.00	0	Only hotspots in the gene
  GNAQ	0.00	0	Only hotspots in the gene
  GNAS	0.00	0	Only hotspots in the gene
  HNF1A	0.00	0	Only hotspots in the gene
  HRAS	0.00	0	Only hotspots in the gene
  IDH1	0.00	0	Only hotspots in the gene
  IDH2	0.00	0	Only hotspots in the gene
  JAK2	0.00	0	Only hotspots in the gene
  JAK3	0.00	0	Only hotspots in the gene
  KDR	0.00	0	Only hotspots in the gene
  KIT	0.00	0	Only hotspots in the gene
  KRAS	0.00	0	Only hotspots in the gene
  MAP2K1	0.00	0	Only hotspots in the gene
  MET	0.00	0	Only hotspots in the gene
  MLH1	0.00	0	Only hotspots in the gene
  MPL	0.00	0	Only hotspots in the gene
  MSH6	0.00	0	Only hotspots in the gene
  MTOR	0.00	0	Only hotspots in the gene
  NF1	0.00	0	Only hotspots in the gene
  NF2	0.00	0	Only hotspots in the gene
  NOTCH1	0.00	0	Only hotspots in the gene
  NPM1	0.00	0	Only hotspots in the gene
  NRAS	0.00	0	Only hotspots in the gene
  PDGFRA	0.00	0	Only hotspots in the gene
  PIK3CA	0.00	0	Only hotspots in the gene
  PIK3R1	0.00	0	Only hotspots in the gene
  PTCH1	0.00	0	Only hotspots in the gene
  PTEN	0.00	0	Only hotspots in the gene
  PTPN11	0.00	0	Only hotspots in the gene
  RB1	0.00	0	Only hotspots in the gene
  RET	0.00	0	Only hotspots in the gene
  SMAD4	0.00	0	Only hotspots in the gene
  SMARCB1	0.00	0	Only hotspots in the gene
  SMO	0.00	0	Only hotspots in the gene
  SRC	0.00	0	Only hotspots in the gene
  STK11	0.00	0	Only hotspots in the gene
  TERT	0.00	0	Only hotspots in the gene
  TP53	0.00	0	Only hotspots in the gene
  TSC1	0.00	0	Only hotspots in the gene
  VHL	0.00	0	Only hotspots in the gene

• 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

• Sturge-Weber syndrome (65 genes) - KUL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABL1	0.00	0	Only hotspots in the gene
  AKT1	0.00	0	Only hotspots in the gene
  ALK	0.00	0	Only hotspots in the gene
  APC	0.00	0	Only hotspots in the gene
  ATM	0.00	0	Only hotspots in the gene
  BRAF	0.00	0	Only hotspots in the gene
  BRCA1	0.00	0	Only hotspots in the gene
  BRCA2	0.00	0	Only hotspots in the gene
  CDH1	0.00	0	Only hotspots in the gene
  CDKN2A	0.00	0	Only hotspots in the gene
  CSF1R	0.00	0	Only hotspots in the gene
  CTNNB1	0.00	0	Only hotspots in the gene
  DDR2	0.00	0	Only hotspots in the gene
  DNMT3A	0.00	0	Only hotspots in the gene
  EGFR	0.00	0	Only hotspots in the gene
  ERBB2	0.00	0	Only hotspots in the gene
  ERBB3	0.00	0	Only hotspots in the gene
  ERBB4	0.00	0	Only hotspots in the gene
  EZH2	0.00	0	Only hotspots in the gene
  FBXW7	0.00	0	Only hotspots in the gene
  FGFR1	0.00	0	Only hotspots in the gene
  FGFR2	0.00	0	Only hotspots in the gene
  FGFR3	0.00	0	Only hotspots in the gene
  FLT3	0.00	0	Only hotspots in the gene
  FOXL2	0.00	0	Only hotspots in the gene
  GNA11	0.00	0	Only hotspots in the gene
  GNAQ	0.00	0	Only hotspots in the gene
  GNAS	0.00	0	Only hotspots in the gene
  HNF1A	0.00	0	Only hotspots in the gene
  HRAS	0.00	0	Only hotspots in the gene
  IDH1	0.00	0	Only hotspots in the gene
  IDH2	0.00	0	Only hotspots in the gene
  JAK2	0.00	0	Only hotspots in the gene
  JAK3	0.00	0	Only hotspots in the gene
  KDR	0.00	0	Only hotspots in the gene
  KIT	0.00	0	Only hotspots in the gene
  KRAS	0.00	0	Only hotspots in the gene
  MAP2K1	0.00	0	Only hotspots in the gene
  MET	0.00	0	Only hotspots in the gene
  MLH1	0.00	0	Only hotspots in the gene
  MPL	0.00	0	Only hotspots in the gene
  MSH6	0.00	0	Only hotspots in the gene
  MTOR	0.00	0	Only hotspots in the gene
  NF1	0.00	0	Only hotspots in the gene
  NF2	0.00	0	Only hotspots in the gene
  NOTCH1	0.00	0	Only hotspots in the gene
  NPM1	0.00	0	Only hotspots in the gene
  NRAS	0.00	0	Only hotspots in the gene
  PDGFRA	0.00	0	Only hotspots in the gene
  PIK3CA	0.00	0	Only hotspots in the gene
  PIK3R1	0.00	0	Only hotspots in the gene
  PTCH1	0.00	0	Only hotspots in the gene
  PTEN	0.00	0	Only hotspots in the gene
  PTPN11	0.00	0	Only hotspots in the gene
  RB1	0.00	0	Only hotspots in the gene
  RET	0.00	0	Only hotspots in the gene
  SMAD4	0.00	0	Only hotspots in the gene
  SMARCB1	0.00	0	Only hotspots in the gene
  SMO	0.00	0	Only hotspots in the gene
  SRC	0.00	0	Only hotspots in the gene
  STK11	0.00	0	Only hotspots in the gene
  TERT	0.00	0	Only hotspots in the gene
  TP53	0.00	0	Only hotspots in the gene
  TSC1	0.00	0	Only hotspots in the gene
  VHL	0.00	0	Only hotspots in the gene