LMBR1

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Name:	limb development membrane protein 1
Symbol:	LMBR1
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	ACHP FLJ11665 ZRS
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM SwissProt
Created:	13 May 2019 - 01:01
Changed:	26 Oct 2023 - 23:49

Related Genetic Tests

• Congenital malformation (gene panel - 1721 genes)
• Congenital malformation gene panel
• Skeletal dysplasia (gene panel)
• Skeletal dysplasia (gene panel)
• Skeletal dysplasia (gene panel)

Related Diseases

• Acheiropodia
• Hypoplastic tibiae-postaxial polydactyly syndrome
• Laurin-Sandrow syndrome
• Polydactyly of a triphalangeal thumb
• Radial hemimelia
• Syndactyly type 4
• Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
• Triphalangeal thumb-polysyndactyly syndrome

Related Gene Panels

• Congenital malformation (1721 genes) - ULB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AAAS	0.00	0	,
  AARS1	0.00	0	,
  AASS	0.00	0	,
  ABAT	0.00	0	,
  ABCA12	0.00	0	,
  ABCC6	0.00	0	,
  ABCC9	0.00	0	,
  ABCD1	0.00	0	,
  ABCD3	0.00	0	,
  ABCD4	0.00	0	,
  ABHD5	0.00	0	,
  ABL1	0.00	0	,
  ACAD9	0.00	0	,
  ACADVL	0.00	0	,
  ACAN	0.00	0	,
  ACE	0.00	0	,
  ACO2	0.00	0	,
  ACOX1	0.00	0	,
  ACP5	0.00	0	,
  ACSL4	0.00	0	,
  ACTA1	0.00	0	,
  ACTA2	0.00	0	,
  ACTB	0.00	0	,
  ACTC1	0.00	0	,
  ACTG1	0.00	0	,
  ACTG2	0.00	0	,
  ACVR1	0.00	0	,
  ACVR2B	0.00	0	,
  ACY1	0.00	0	,
  ADAMTS10	0.00	0	,
  ADAMTS17	0.00	0	,
  ADAMTS3	0.00	0	,
  ADAMTSL2	0.00	0	,
  ADAR	0.00	0	,
  ADGRG1	0.00	0	,
  ADGRG6	0.00	0	,
  ADNP	0.00	0	,
  ADSL	0.00	0	,
  AFF3	0.00	0	,
  AFF4	0.00	0	,
  AGK	0.00	0	,
  AGL	0.00	0	,
  AGPS	0.00	0	,
  AHCY	0.00	0	,
  AHDC1	0.00	0	,
  AHI1	0.00	0	,
  AIFM1	0.00	0	,
  AIMP1	0.00	0	,
  AIPL1	0.00	0	,
  AIRE	0.00	0	,
  AKR1C2	0.00	0	,
  AKT1	0.00	0	,
  AKT2	0.00	0	,
  AKT3	0.00	0	,
  ALDH18A1	0.00	0	,
  ALDH1A3	0.00	0	,
  ALDH3A2	0.00	0	,
  ALDH7A1	0.00	0	,
  ALDOA	0.00	0	,
  ALG1	0.00	0	,
  ALG11	0.00	0	,
  ALG12	0.00	0	,
  ALG13	0.00	0	,
  ALG2	0.00	0	,
  ALG3	0.00	0	,
  ALG6	0.00	0	,
  ALG8	0.00	0	,
  ALG9	0.00	0	,
  ALMS1	0.00	0	,
  ALOX12B	0.00	0	,
  ALOXE3	0.00	0	,
  ALPL	0.00	0	,
  ALX1	0.00	0	,
  ALX3	0.00	0	,
  ALX4	0.00	0	,
  AMACR	0.00	0	,
  AMBRA1	0.00	0	,
  AMER1	0.00	0	,
  AMMECR1	0.00	0	,
  AMPD2	0.00	0	,
  AMT	0.00	0	,
  ANAPC1	0.00	0	,
  ANKH	0.00	0	,
  ANKRD11	0.00	0	,
  ANKRD26	0.00	0	,
  ANKS6	0.00	0	,
  ANOS1	0.00	0	,
  ANTXR1	0.00	0	,
  ANTXR2	0.00	0	,
  AP1S2	0.00	0	,
  AP3B2	0.00	0	,
  AP4B1	0.00	0	,
  AP4E1	0.00	0	,
  AP4M1	0.00	0	,
  AP4S1	0.00	0	,
  AR	0.00	0	,
  ARCN1	0.00	0	,
  ARFGEF2	0.00	0	,
  ARHGAP29	0.00	0	,
  ARHGAP31	0.00	0	,
  ARID1A	0.00	0	,
  ARID1B	0.00	0	,
  ARID2	0.00	0	,
  ARL13B	0.00	0	,
  ARL3	0.00	0	,
  ARL6	0.00	0	,
  ODAD2	0.00	0	,
  ARMC9	0.00	0	,
  ARSA	0.00	0	,
  SLURP1	0.00	0	,
  ARSL	0.00	0	,
  ARVCF	0.00	0	,
  ARX	0.00	0	,
  ASAH1	0.00	0	,
  ASCC1	0.00	0	,
  ASNS	0.00	0	,
  ASPA	0.00	0	,
  ASPH	0.00	0	,
  ASPM	0.00	0	,
  ASS1	0.00	0	,
  ASXL1	0.00	0	,
  ASXL2	0.00	0	,
  ASXL3	0.00	0	,
  ATAD3A	0.00	0	,
  ATIC	0.00	0	,
  ATL1	0.00	0	,
  ATM	0.00	0	,
  ATP1A2	0.00	0	,
  ATP6V0A2	0.00	0	,
  ATP6V1B2	0.00	0	,
  ATP7A	0.00	0	,
  ATP8A2	0.00	0	,
  ATRX	0.00	0	,
  ATXN10	0.00	0	,
  AVIL	0.00	0	,
  B3GALNT2	0.00	0	,
  B3GALT6	0.00	0	,
  B3GAT3	0.00	0	,
  B3GLCT	0.00	0	,
  B4GALT1	0.00	0	,
  B4GALT7	0.00	0	,
  B4GAT1	0.00	0	,
  B9D1	0.00	0	,
  B9D2	0.00	0	,
  BANF1	0.00	0	,
  BBIP1	0.00	0	,
  BBS1	0.00	0	,
  BBS10	0.00	0	,
  BBS12	0.00	0	,
  BBS2	0.00	0	,
  BBS4	0.00	0	,
  BBS5	0.00	0	,
  BBS7	0.00	0	,
  BBS9	0.00	0	,
  BCAP31	0.00	0	,
  BCL11A	0.00	0	,
  BCL9L	0.00	0	,
  BCOR	0.00	0	,
  BCS1L	0.00	0	,
  BDNF	0.00	0	,
  BFSP2	0.00	0	,
  BGN	0.00	0	,
  BHLHA9	0.00	0	,
  BICC1	0.00	0	,
  BICD2	0.00	0	,
  BIN1	0.00	0	,
  BLM	0.00	0	,
  BLOC1S6	0.00	0	,
  BMP1	0.00	0	,
  BMP2	0.00	0	,
  BMP4	0.00	0	,
  BMPER	0.00	0	,
  BMPR1B	0.00	0	,
  BNC2	0.00	0	,
  BOLA3	0.00	0	,
  BPTF	0.00	0	,
  BRAF	0.00	0	,
  BRAT1	0.00	0	,
  BRCA2	0.00	0	,
  BRIP1	0.00	0	,
  BRPF1	0.00	0	,
  BSND	0.00	0	,
  BTD	0.00	0	,
  BUB1	0.00	0	,
  BUB1B	0.00	0	,
  BUB3	0.00	0	,
  C12ORF57	0.00	0	,
  MTRFR	0.00	0	,
  C1QBP	0.00	0	,
  MFRP	0.00	0	,
  C2CD3	0.00	0	,
  C4BPA	0.00	0	,
  C4BPB	0.00	0	,
  CFAP418	0.00	0	,
  CA2	0.00	0	,
  CA5A	0.00	0	,
  CA8	0.00	0	,
  CACNA1A	0.00	0	,
  CACNA1C	0.00	0	,
  CACNA1D	0.00	0	,
  CACNA1E	0.00	0	,
  CACNA1G	0.00	0	,
  CAMK2A	0.00	0	,
  CAMK2B	0.00	0	,
  CAMTA1	0.00	0	,
  CANT1	0.00	0	,
  CARS2	0.00	0	,
  CASK	0.00	0	,
  CASR	0.00	0	,
  CBL	0.00	0	,
  CC2D2A	0.00	0	,
  CCBE1	0.00	0	,
  CCDC103	0.00	0	,
  ODAD1	0.00	0	,
  ODAD3	0.00	0	,
  CCDC22	0.00	0	,
  CCDC28B	0.00	0	,
  CCDC39	0.00	0	,
  CCDC40	0.00	0	,
  CCDC78	0.00	0	,
  CCDC8	0.00	0	,
  CCDC88C	0.00	0	,
  CCM2	0.00	0	,
  CCND2	0.00	0	,
  CCNQ	0.00	0	,
  CD151	0.00	0	,
  CD55	0.00	0	,
  CD96	0.00	0	,
  CDAN1	0.00	0	,
  CDC45	0.00	0	,
  CDC6	0.00	0	,
  CDC73	0.00	0	,
  CDH1	0.00	0	,
  CDH11	0.00	0	,
  CDH3	0.00	0	,
  CDK13	0.00	0	,
  CDK5RAP2	0.00	0	,
  CDK8	0.00	0	,
  CDKL5	0.00	0	,
  CDKN1C	0.00	0	,
  CDON	0.00	0	,
  CDT1	0.00	0	,
  CELSR1	0.00	0	,
  CENPF	0.00	0	,
  CENPJ	0.00	0	,
  CEP104	0.00	0	,
  CEP120	0.00	0	,
  CEP135	0.00	0	,
  CEP152	0.00	0	,
  CEP164	0.00	0	,
  CEP290	0.00	0	,
  CEP41	0.00	0	,
  CEP55	0.00	0	,
  CEP57	0.00	0	,
  CEP63	0.00	0	,
  CEP83	0.00	0	,
  CERS3	0.00	0	,
  CERT1	0.00	0	,
  CFAP298	0.00	0	,
  CFAP300	0.00	0	,
  CFAP410	0.00	0	,
  CFAP53	0.00	0	,
  CFC1	0.00	0	,
  CFHR2	0.00	0	,
  CFL2	0.00	0	,
  CFTR	0.00	0	,
  CHAMP1	0.00	0	,
  CHAT	0.00	0	,
  CHD3	0.00	0	,
  CHD4	0.00	0	,
  CHD7	0.00	0	,
  CHD8	0.00	0	,
  CHKB	0.00	0	,
  CHMP1A	0.00	0	,
  CHN1	0.00	0	,
  CHRNA1	0.00	0	,
  CHRNA3	0.00	0	,
  CHRNB1	0.00	0	,
  CHRNB2	0.00	0	,
  CHRND	0.00	0	,
  CHRNE	0.00	0	,
  CHRNG	0.00	0	,
  CHST11	0.00	0	,
  CHST14	0.00	0	,
  CHST3	0.00	0	,
  CHSY1	0.00	0	,
  CHUK	0.00	0	,
  CILK1	0.00	0	,
  CIT	0.00	0	,
  CKAP2L	0.00	0	,
  CLCN7	0.00	0	,
  CLCNKB	0.00	0	,
  CLDN10	0.00	0	,
  CLMP	0.00	0	,
  CLP1	0.00	0	,
  CLPB	0.00	0	,
  CLPP	0.00	0	,
  CLTC	0.00	0	,
  CNKSR2	0.00	0	,
  CNOT1	0.00	0	,
  CNOT3	0.00	0	,
  CNTN1	0.00	0	,
  CNTNAP1	0.00	0	,
  CNTNAP2	0.00	0	,
  COASY	0.00	0	,
  COG1	0.00	0	,
  COG4	0.00	0	,
  COG5	0.00	0	,
  COG6	0.00	0	,
  COG7	0.00	0	,
  COG8	0.00	0	,
  COL10A1	0.00	0	,
  COL11A1	0.00	0	,
  COL11A2	0.00	0	,
  COL12A1	0.00	0	,
  COL13A1	0.00	0	,
  COL18A1	0.00	0	,
  COL1A1	0.00	0	,
  COL1A2	0.00	0	,
  COL25A1	0.00	0	,
  COL2A1	0.00	0	,
  COL3A1	0.00	0	,
  COL4A1	0.00	0	,
  COL4A2	0.00	0	,
  COL5A1	0.00	0	,
  COL5A2	0.00	0	,
  COL6A1	0.00	0	,
  COL6A2	0.00	0	,
  COL6A3	0.00	0	,
  COL7A1	0.00	0	,
  COL9A1	0.00	0	,
  COL9A2	0.00	0	,
  COLEC10	0.00	0	,
  COLEC11	0.00	0	,
  COLQ	0.00	0	,
  COMT	0.00	0	,
  COQ4	0.00	0	,
  COQ7	0.00	0	,
  COQ9	0.00	0	,
  COX7B	0.00	0	,
  CPAMD8	0.00	0	,
  CPLANE1	0.00	0	,
  CPT2	0.00	0	,
  CRADD	0.00	0	,
  CRB1	0.00	0	,
  CRB2	0.00	0	,
  CREB3L1	0.00	0	,
  CREBBP	0.00	0	,
  CRELD1	0.00	0	,
  CRH	0.00	0	,
  CRIPT	0.00	0	,
  CRLF1	0.00	0	,
  CRPPA	0.00	0	,
  CRTAP	0.00	0	,
  CRX	0.00	0	,
  CRYAA	0.00	0	,
  CRYBA1	0.00	0	,
  CRYBA4	0.00	0	,
  CRYBB1	0.00	0	,
  CRYBB2	0.00	0	,
  CRYBB3	0.00	0	,
  CRYGC	0.00	0	,
  CRYGD	0.00	0	,
  CSF1R	0.00	0	,
  CSNK2A1	0.00	0	,
  CSPP1	0.00	0	,
  CSTA	0.00	0	,
  CTC1	0.00	0	,
  CTCF	0.00	0	,
  CTDP1	0.00	0	,
  CTNNB1	0.00	0	,
  CTNND1	0.00	0	,
  CTNS	0.00	0	,
  CTSA	0.00	0	,
  CTSD	0.00	0	,
  CTSK	0.00	0	,
  CTU2	0.00	0	,
  CUL4B	0.00	0	,
  CUL7	0.00	0	,
  CUX2	0.00	0	,
  CWC27	0.00	0	,
  CXCR4	0.00	0	,
  CYB5R3	0.00	0	,
  CYP11A1	0.00	0	,
  CYP11B1	0.00	0	,
  CYP17A1	0.00	0	,
  CYP19A1	0.00	0	,
  CYP1B1	0.00	0	,
  CYP21A2	0.00	0	,
  CYP26B1	0.00	0	,
  CYP2U1	0.00	0	,
  CYP4F22	0.00	0	,
  DACH1	0.00	0	,
  DAG1	0.00	0	,
  DARS1	0.00	0	,
  DCC	0.00	0	,
  DCDC2	0.00	0	,
  DCHS1	0.00	0	,
  DCX	0.00	0	,
  DDHD2	0.00	0	,
  DDR2	0.00	0	,
  DDX11	0.00	0	,
  DDX3X	0.00	0	,
  DDX59	0.00	0	,
  DDX6	0.00	0	,
  DENND5A	0.00	0	,
  DHCR24	0.00	0	,
  DHCR7	0.00	0	,
  DHDDS	0.00	0	,
  DHFR	0.00	0	,
  DHH	0.00	0	,
  DHODH	0.00	0	,
  DHTKD1	0.00	0	,
  DHX30	0.00	0	,
  DIAPH1	0.00	0	,
  DIS3L2	0.00	0	,
  DISP1	0.00	0	,
  DKC1	0.00	0	,
  DLG4	0.00	0	,
  DLL3	0.00	0	,
  DLL4	0.00	0	,
  DLX5	0.00	0	,
  DMD	0.00	0	,
  DMPK	0.00	0	,
  DNAAF1	0.00	0	,
  DNAAF2	0.00	0	,
  DNAAF3	0.00	0	,
  DNAAF4	0.00	0	,
  DNAAF5	0.00	0	,
  DNAH11	0.00	0	,
  DNAH5	0.00	0	,
  DNAH9	0.00	0	,
  DNAI1	0.00	0	,
  DNAI2	0.00	0	,
  DNAJB11	0.00	0	,
  DNAJC12	0.00	0	,
  DNAJC19	0.00	0	,
  DNM1	0.00	0	,
  DNM1L	0.00	0	,
  DNM2	0.00	0	,
  DNMT3A	0.00	0	,
  DNMT3B	0.00	0	,
  DOCK6	0.00	0	,
  DOCK7	0.00	0	,
  DOK7	0.00	0	,
  DOLK	0.00	0	,
  DONSON	0.00	0	,
  DPAGT1	0.00	0	,
  DPF2	0.00	0	,
  DPH1	0.00	0	,
  DPM1	0.00	0	,
  DPM2	0.00	0	,
  DPM3	0.00	0	,
  DPYD	0.00	0	,
  DRC1	0.00	0	,
  DSG1	0.00	0	,
  DSP	0.00	0	,
  DSTYK	0.00	0	,
  DUSP6	0.00	0	,
  DVL1	0.00	0	,
  DVL3	0.00	0	,
  DYM	0.00	0	,
  DYNC1H1	0.00	0	,
  DYNC2H1	0.00	0	,
  DYNC2LI1	0.00	0	,
  DYRK1A	0.00	0	,
  DZIP1L	0.00	0	,
  EARS2	0.00	0	,
  EBF3	0.00	0	,
  GLB1	0.00	0	,
  ECEL1	0.00	0	,
  EDA	0.00	0	,
  EDN1	0.00	0	,
  EDNRA	0.00	0	,
  EDNRB	0.00	0	,
  EED	0.00	0	,
  EEF1A2	0.00	0	,
  EFL1	0.00	0	,
  EFNB1	0.00	0	,
  EFTUD2	0.00	0	,
  EGR2	0.00	0	,
  EHBP1L1	0.00	0	,
  EHHADH	0.00	0	,
  EHMT1	0.00	0	,
  EIF2AK3	0.00	0	,
  EIF2B2	0.00	0	,
  EIF2B3	0.00	0	,
  EIF2S3	0.00	0	,
  EIF4A3	0.00	0	,
  EIF5A	0.00	0	,
  ELAC2	0.00	0	,
  ELMO2	0.00	0	,
  ELN	0.00	0	,
  ELOVL4	0.00	0	,
  EMC1	0.00	0	,
  EMD	0.00	0	,
  EMG1	0.00	0	,
  EML1	0.00	0	,
  EMX2	0.00	0	,
  ENPP1	0.00	0	,
  EOGT	0.00	0	,
  EP300	0.00	0	,
  EPG5	0.00	0	,
  EPHB4	0.00	0	,
  EPHX1	0.00	0	,
  ERBB3	0.00	0	,
  ERCC1	0.00	0	,
  ERCC2	0.00	0	,
  ERCC3	0.00	0	,
  ERCC4	0.00	0	,
  ERCC5	0.00	0	,
  ERCC6	0.00	0	,
  ERCC8	0.00	0	,
  ERF	0.00	0	,
  ERGIC1	0.00	0	,
  ERLIN2	0.00	0	,
  ESCO2	0.00	0	,
  ESRRG	0.00	0	,
  ETFA	0.00	0	,
  ETFB	0.00	0	,
  ETFDH	0.00	0	,
  EVC	0.00	0	,
  EVC2	0.00	0	,
  EXOC3L2	0.00	0	,
  EXOSC3	0.00	0	,
  EXPH5	0.00	0	,
  EXT1	0.00	0	,
  EXT2	0.00	0	,
  EXTL3	0.00	0	,
  EYA1	0.00	0	,
  EZH2	0.00	0	,
  FA2H	0.00	0	,
  FANCA	0.00	0	,
  FAM111A	0.00	0	,
  HYCC1	0.00	0	,
  FAM20A	0.00	0	,
  FAM20C	0.00	0	,
  FANCB	0.00	0	,
  FANCC	0.00	0	,
  FANCD2	0.00	0	,
  FANCE	0.00	0	,
  FANCF	0.00	0	,
  FANCG	0.00	0	,
  FANCI	0.00	0	,
  FANCL	0.00	0	,
  FANCM	0.00	0	,
  FAR1	0.00	0	,
  FAT4	0.00	0	,
  FBLN5	0.00	0	,
  FBN1	0.00	0	,
  FBN2	0.00	0	,
  FBXL4	0.00	0	,
  FEZF1	0.00	0	,
  FGD1	0.00	0	,
  FGF10	0.00	0	,
  FGF17	0.00	0	,
  FGF3	0.00	0	,
  FGF8	0.00	0	,
  FGF9	0.00	0	,
  FGFR1	0.00	0	,
  FGFR2	0.00	0	,
  FGFR3	0.00	0	,
  FGG	0.00	0	,
  FH	0.00	0	,
  FIG4	0.00	0	,
  FKBP10	0.00	0	,
  FKBP14	0.00	0	,
  FKBP8	0.00	0	,
  FKRP	0.00	0	,
  FKTN	0.00	0	,
  FLNA	0.00	0	,
  FLNB	0.00	0	,
  FLNC	0.00	0	,
  FLRT3	0.00	0	,
  FLT4	0.00	0	,
  FLVCR2	0.00	0	,
  FMN2	0.00	0	,
  FN1	0.00	0	,
  FOLR1	0.00	0	,
  FOXC1	0.00	0	,
  FOXC2	0.00	0	,
  FOXE1	0.00	0	,
  FOXE3	0.00	0	,
  FOXF1	0.00	0	,
  FOXG1	0.00	0	,
  FOXL2	0.00	0	,
  FOXP2	0.00	0	,
  FOXP3	0.00	0	,
  FOXP4	0.00	0	,
  FOXRED1	0.00	0	,
  FRAS1	0.00	0	,
  FREM1	0.00	0	,
  FREM2	0.00	0	,
  FRMD4A	0.00	0	,
  FRMPD4	0.00	0	,
  FRRS1L	0.00	0	,
  FTL	0.00	0	,
  FTO	0.00	0	,
  FUCA1	0.00	0	,
  FUT8	0.00	0	,
  FUZ	0.00	0	,
  FYCO1	0.00	0	,
  FZD2	0.00	0	,
  FZD5	0.00	0	,
  G6PC3	0.00	0	,
  GAA	0.00	0	,
  GABRA1	0.00	0	,
  GABRB2	0.00	0	,
  GABRG2	0.00	0	,
  GALC	0.00	0	,
  GALE	0.00	0	,
  GALK1	0.00	0	,
  GALNS	0.00	0	,
  GALNT2	0.00	0	,
  GANAB	0.00	0	,
  GATA1	0.00	0	,
  GATA2	0.00	0	,
  GATA3	0.00	0	,
  GATA4	0.00	0	,
  GATA6	0.00	0	,
  GBA1	0.00	0	,
  GBA2	0.00	0	,
  GBE1	0.00	0	,
  GCDH	0.00	0	,
  GCSH	0.00	0	,
  GDF1	0.00	0	,
  GDF3	0.00	0	,
  GDF5	0.00	0	,
  GDF6	0.00	0	,
  GFAP	0.00	0	,
  GFM1	0.00	0	,
  GFPT1	0.00	0	,
  GFRA1	0.00	0	,
  GJA1	0.00	0	,
  GJA3	0.00	0	,
  GJA8	0.00	0	,
  GJB2	0.00	0	,
  GJC2	0.00	0	,
  GLA	0.00	0	,
  GLDC	0.00	0	,
  GLDN	0.00	0	,
  GLE1	0.00	0	,
  GLI1	0.00	0	,
  GLI2	0.00	0	,
  GLI3	0.00	0	,
  GLIS2	0.00	0	,
  GLIS3	0.00	0	,
  GLUL	0.00	0	,
  GM2A	0.00	0	,
  GMNN	0.00	0	,
  GMPPB	0.00	0	,
  GNA11	0.00	0	,
  GNA14	0.00	0	,
  GNAI1	0.00	0	,
  GNAI3	0.00	0	,
  GNAO1	0.00	0	,
  GNAQ	0.00	0	,
  GNAS	0.00	0	,
  GNB1	0.00	0	,
  GNB5	0.00	0	,
  GNPAT	0.00	0	,
  GNPTAB	0.00	0	,
  GNPTG	0.00	0	,
  GNS	0.00	0	,
  GORAB	0.00	0	,
  GP1BB	0.00	0	,
  GPAA1	0.00	0	,
  GPC3	0.00	0	,
  GPC6	0.00	0	,
  GPI	0.00	0	,
  GPKOW	0.00	0	,
  GPSM2	0.00	0	,
  GPX4	0.00	0	,
  GREB1L	0.00	0	,
  GRHL2	0.00	0	,
  GRHL3	0.00	0	,
  GRIN1	0.00	0	,
  GRIN2B	0.00	0	,
  GRIN2D	0.00	0	,
  GRIP1	0.00	0	,
  GRM1	0.00	0	,
  GSC	0.00	0	,
  GSPT2	0.00	0	,
  GTF2E2	0.00	0	,
  GTF2H5	0.00	0	,
  GTPBP3	0.00	0	,
  GUCY2C	0.00	0	,
  GUCY2D	0.00	0	,
  GUSB	0.00	0	,
  GZF1	0.00	0	,
  H1-4	0.00	0	,
  H4C3	0.00	0	,
  HAAO	0.00	0	,
  HADHA	0.00	0	,
  HADHB	0.00	0	,
  HBA1	0.00	0	,
  HBA2	0.00	0	,
  HCCS	0.00	0	,
  HCFC1	0.00	0	,
  HDAC8	0.00	0	,
  HES7	0.00	0	,
  HESX1	0.00	0	,
  HGSNAT	0.00	0	,
  HIBCH	0.00	0	,
  HIRA	0.00	0	,
  HIVEP2	0.00	0	,
  HLX	0.00	0	,
  HMGA2	0.00	0	,
  HMX1	0.00	0	,
  HNF1B	0.00	0	,
  HNF4A	0.00	0	,
  HNRNPH2	0.00	0	,
  HNRNPK	0.00	0	,
  HOXA1	0.00	0	,
  HOXA11	0.00	0	,
  HOXA13	0.00	0	,
  HOXA2	0.00	0	,
  HOXB1	0.00	0	,
  HOXD13	0.00	0	,
  HPD	0.00	0	,
  HPGD	0.00	0	,
  HPSE2	0.00	0	,
  HR	0.00	0	,
  HRAS	0.00	0	,
  HS6ST1	0.00	0	,
  HSD17B3	0.00	0	,
  HSD17B4	0.00	0	,
  HSF4	0.00	0	,
  HSPD1	0.00	0	,
  HSPG2	0.00	0	,
  HUWE1	0.00	0	,
  HYAL1	0.00	0	,
  HYLS1	0.00	0	,
  IARS1	0.00	0	,
  IBA57	0.00	0	,
  IDH1	0.00	0	,
  IDS	0.00	0	,
  IDUA	0.00	0	,
  IER3IP1	0.00	0	,
  IFIH1	0.00	0	,
  IFITM5	0.00	0	,
  IFT122	0.00	0	,
  IFT140	0.00	0	,
  IFT172	0.00	0	,
  IFT27	0.00	0	,
  IFT43	0.00	0	,
  IFT52	0.00	0	,
  IFT80	0.00	0	,
  IFT81	0.00	0	,
  IFT88	0.00	0	,
  IGBP1	0.00	0	,
  IGF1	0.00	0	,
  IGF1R	0.00	0	,
  IGF2	0.00	0	,
  IGFBP7	0.00	0	,
  IGHMBP2	0.00	0	,
  IHH	0.00	0	,
  IKBKG	0.00	0	,
  IL11RA	0.00	0	,
  IL17RD	0.00	0	,
  IL1RAPL1	0.00	0	,
  BPNT2	0.00	0	,
  IMPDH1	0.00	0	,
  INCENP	0.00	0	,
  INPP5B	0.00	0	,
  INPP5E	0.00	0	,
  INPP5K	0.00	0	,
  INPPL1	0.00	0	,
  INSR	0.00	0	,
  INTU	0.00	0	,
  INVS	0.00	0	,
  IQCB1	0.00	0	,
  IRF6	0.00	0	,
  IRX1	0.00	0	,
  IRX5	0.00	0	,
  ITCH	0.00	0	,
  ITGA3	0.00	0	,
  ITGA6	0.00	0	,
  ITGA8	0.00	0	,
  ITGB4	0.00	0	,
  ITPR1	0.00	0	,
  JAG1	0.00	0	,
  JAM3	0.00	0	,
  JUP	0.00	0	,
  KANSL1	0.00	0	,
  KAT6A	0.00	0	,
  KAT6B	0.00	0	,
  KATNB1	0.00	0	,
  KCNA1	0.00	0	,
  KCNC3	0.00	0	,
  KCNH1	0.00	0	,
  KCNJ1	0.00	0	,
  KCNJ13	0.00	0	,
  KCNJ2	0.00	0	,
  KCNJ6	0.00	0	,
  KCNJ8	0.00	0	,
  KCNK9	0.00	0	,
  KCNQ2	0.00	0	,
  KCNQ5	0.00	0	,
  KCNT1	0.00	0	,
  KCTD1	0.00	0	,
  KCTD7	0.00	0	,
  KDM1A	0.00	0	,
  KDM5C	0.00	0	,
  KDM6A	0.00	0	,
  KATNIP	0.00	0	,
  KIAA0586	0.00	0	,
  KIAA0753	0.00	0	,
  BLTP1	0.00	0	,
  KIDINS220	0.00	0	,
  KIF11	0.00	0	,
  KIF14	0.00	0	,
  KIF1A	0.00	0	,
  KIF22	0.00	0	,
  KIF26B	0.00	0	,
  KIF2A	0.00	0	,
  KIF5C	0.00	0	,
  KIF7	0.00	0	,
  KIFBP	0.00	0	,
  KISS1R	0.00	0	,
  KLF1	0.00	0	,
  KLHL40	0.00	0	,
  KLHL41	0.00	0	,
  KLHL7	0.00	0	,
  KMT2A	0.00	0	,
  KMT2B	0.00	0	,
  KMT2C	0.00	0	,
  KMT2D	0.00	0	,
  KNL1	0.00	0	,
  KPTN	0.00	0	,
  KRAS	0.00	0	,
  KRIT1	0.00	0	,
  KRT74	0.00	0	,
  KYNU	0.00	0	,
  L1CAM	0.00	0	,
  L2HGDH	0.00	0	,
  LAGE3	0.00	0	,
  LAMA1	0.00	0	,
  LAMA2	0.00	0	,
  LAMA5	0.00	0	,
  LAMB1	0.00	0	,
  LAMC3	0.00	0	,
  LARGE1	0.00	0	,
  LARP7	0.00	0	,
  LARS2	0.00	0	,
  LBR	0.00	0	,
  LCA5	0.00	0	,
  LEMD3	0.00	0	,
  LFNG	0.00	0	,
  LGI4	0.00	0	,
  LHB	0.00	0	,
  LHX3	0.00	0	,
  LHX4	0.00	0	,
  LIAS	0.00	0	,
  LIFR	0.00	0	,
  LIG4	0.00	0	,
  LINS1	0.00	0	,
  LIPA	0.00	0	,
  LIPN	0.00	0	,
  LIPT1	0.00	0	,
  LIPT2	0.00	0	,
  LMBR1	0.00	0	,
  LMBRD1	0.00	0	,
  LMNA	0.00	0	,
  LMNB1	0.00	0	,
  LMNB2	0.00	0	,
  LMOD3	0.00	0	,
  LMX1B	0.00	0	,
  LONP1	0.00	0	,
  LRAT	0.00	0	,
  LRBA	0.00	0	,
  LRIG2	0.00	0	,
  LRIT3	0.00	0	,
  LRP2	0.00	0	,
  CORIN	0.00	0	,
  LRP5	0.00	0	,
  LRRC56	0.00	0	,
  DNAAF11	0.00	0	,
  LTBP3	0.00	0	,
  LTBP4	0.00	0	,
  LYST	0.00	0	,
  LZTFL1	0.00	0	,
  LZTR1	0.00	0	,
  MAB21L2	0.00	0	,
  MACF1	0.00	0	,
  MAF	0.00	0	,
  MAFB	0.00	0	,
  MAGEL2	0.00	0	,
  MAMLD1	0.00	0	,
  MAN1B1	0.00	0	,
  MANBA	0.00	0	,
  MAP2K1	0.00	0	,
  MAP2K2	0.00	0	,
  MAP3K1	0.00	0	,
  MAP3K20	0.00	0	,
  MAP3K7	0.00	0	,
  MAPKBP1	0.00	0	,
  MAPRE2	0.00	0	,
  MASP1	0.00	0	,
  MAT1A	0.00	0	,
  MATN3	0.00	0	,
  MBOAT7	0.00	0	,
  MBTPS2	0.00	0	,
  MCOLN1	0.00	0	,
  MCPH1	0.00	0	,
  MDH2	0.00	0	,
  MECOM	0.00	0	,
  MECP2	0.00	0	,
  MECR	0.00	0	,
  MED12	0.00	0	,
  MED13L	0.00	0	,
  MED17	0.00	0	,
  MED28	0.00	0	,
  MEF2C	0.00	0	,
  MEGF10	0.00	0	,
  MEGF8	0.00	0	,
  MEIS2	0.00	0	,
  MEOX1	0.00	0	,
  MESD	0.00	0	,
  MESP2	0.00	0	,
  MFSD2A	0.00	0	,
  MGP	0.00	0	,
  MID1	0.00	0	,
  MIPOL1	0.00	0	,
  MITF	0.00	0	,
  MKKS	0.00	0	,
  MKS1	0.00	0	,
  MLC1	0.00	0	,
  MLH1	0.00	0	,
  MLYCD	0.00	0	,
  MMACHC	0.00	0	,
  MMADHC	0.00	0	,
  MMP13	0.00	0	,
  MMP15	0.00	0	,
  MMP21	0.00	0	,
  MN1	0.00	0	,
  MNX1	0.00	0	,
  MOCOS	0.00	0	,
  MOCS1	0.00	0	,
  MOCS2	0.00	0	,
  MOGS	0.00	0	,
  MPDU1	0.00	0	,
  MPDZ	0.00	0	,
  MPL	0.00	0	,
  MPLKIP	0.00	0	,
  MPZ	0.00	0	,
  MRAS	0.00	0	,
  MRPS16	0.00	0	,
  MRPS22	0.00	0	,
  MRPS34	0.00	0	,
  MSH2	0.00	0	,
  MSH6	0.00	0	,
  MSL3	0.00	0	,
  MSMO1	0.00	0	,
  MSTO1	0.00	0	,
  MSX1	0.00	0	,
  MSX2	0.00	0	,
  MTM1	0.00	0	,
  MTO1	0.00	0	,
  MTOR	0.00	0	,
  MUSK	0.00	0	,
  MVK	0.00	0	,
  MYBPC1	0.00	0	,
  MYCN	0.00	0	,
  MYH10	0.00	0	,
  MYH11	0.00	0	,
  MYH2	0.00	0	,
  MYH3	0.00	0	,
  MYH6	0.00	0	,
  MYH7	0.00	0	,
  MYH8	0.00	0	,
  MYH9	0.00	0	,
  MYL1	0.00	0	,
  MYL9	0.00	0	,
  MYLK	0.00	0	,
  MYMK	0.00	0	,
  MYO18B	0.00	0	,
  MYO9A	0.00	0	,
  MYOCD	0.00	0	,
  MYOD1	0.00	0	,
  MYPN	0.00	0	,
  MYRF	0.00	0	,
  MYT1	0.00	0	,
  NAA10	0.00	0	,
  NAA15	0.00	0	,
  NACC1	0.00	0	,
  NADSYN1	0.00	0	,
  NAGA	0.00	0	,
  NAGLU	0.00	0	,
  NALCN	0.00	0	,
  NANS	0.00	0	,
  NAXE	0.00	0	,
  NBAS	0.00	0	,
  NBN	0.00	0	,
  NDE1	0.00	0	,
  NDP	0.00	0	,
  NDUFA10	0.00	0	,
  NDUFAF2	0.00	0	,
  NDUFAF5	0.00	0	,
  NDUFB11	0.00	0	,
  NEB	0.00	0	,
  NECTIN1	0.00	0	,
  NECTIN4	0.00	0	,
  NEDD4L	0.00	0	,
  NEK1	0.00	0	,
  NEK9	0.00	0	,
  NEU1	0.00	0	,
  NEXMIF	0.00	0	,
  NF1	0.00	0	,
  NFIX	0.00	0	,
  NHEJ1	0.00	0	,
  NHP2	0.00	0	,
  NHS	0.00	0	,
  NIN	0.00	0	,
  NIPAL4	0.00	0	,
  NIPBL	0.00	0	,
  NKX2-5	0.00	0	,
  NKX3-2	0.00	0	,
  NKX6-2	0.00	0	,
  NLRC4	0.00	0	,
  RMRP	0.00	0	,
  NMNAT1	0.00	0	,
  NMNAT2	0.00	0	,
  NODAL	0.00	0	,
  NOG	0.00	0	,
  NONO	0.00	0	,
  NOTCH1	0.00	0	,
  NOTCH2	0.00	0	,
  NOVA2	0.00	0	,
  NPC1	0.00	0	,
  NPC2	0.00	0	,
  NPHP1	0.00	0	,
  NPHP3	0.00	0	,
  NPHP4	0.00	0	,
  NPHS1	0.00	0	,
  NPRL2	0.00	0	,
  NR0B1	0.00	0	,
  NR2F2	0.00	0	,
  NR5A1	0.00	0	,
  NRAS	0.00	0	,
  NRXN2	0.00	0	,
  NSD1	0.00	0	,
  NSDHL	0.00	0	,
  NSMF	0.00	0	,
  NSUN2	0.00	0	,
  NT5C2	0.00	0	,
  NTRK2	0.00	0	,
  NUAK2	0.00	0	,
  NUBPL	0.00	0	,
  NUP107	0.00	0	,
  NUP62	0.00	0	,
  NUP88	0.00	0	,
  NUS1	0.00	0	,
  NXN	0.00	0	,
  OBSL1	0.00	0	,
  OCLN	0.00	0	,
  OCRL	0.00	0	,
  ODC1	0.00	0	,
  OFD1	0.00	0	,
  OPHN1	0.00	0	,
  SLC25A15	0.00	0	,
  ORC4	0.00	0	,
  ORC6	0.00	0	,
  OSGEP	0.00	0	,
  OSTM1	0.00	0	,
  OTUD5	0.00	0	,
  OTUD6B	0.00	0	,
  OTX2	0.00	0	,
  P3H1	0.00	0	,
  P4HB	0.00	0	,
  PACS1	0.00	0	,
  PAFAH1B1	0.00	0	,
  PAICS	0.00	0	,
  PAK3	0.00	0	,
  PALB2	0.00	0	,
  PAPSS2	0.00	0	,
  PARN	0.00	0	,
  PAX2	0.00	0	,
  PAX3	0.00	0	,
  PAX6	0.00	0	,
  PAX7	0.00	0	,
  PAX8	0.00	0	,
  PBX1	0.00	0	,
  PCGF2	0.00	0	,
  PCNT	0.00	0	,
  PCYT1A	0.00	0	,
  PDCD10	0.00	0	,
  PDE10A	0.00	0	,
  PDE4D	0.00	0	,
  PDE6D	0.00	0	,
  PDE6H	0.00	0	,
  PDGFB	0.00	0	,
  PDGFRB	0.00	0	,
  PDHA1	0.00	0	,
  PDHB	0.00	0	,
  PDHX	0.00	0	,
  PDSS1	0.00	0	,
  PDYN	0.00	0	,
  PEPD	0.00	0	,
  PET100	0.00	0	,
  PEX1	0.00	0	,
  PEX10	0.00	0	,
  PEX11B	0.00	0	,
  PEX12	0.00	0	,
  PEX13	0.00	0	,
  PEX14	0.00	0	,
  PEX16	0.00	0	,
  PEX19	0.00	0	,
  PEX2	0.00	0	,
  PEX26	0.00	0	,
  PEX3	0.00	0	,
  PEX5	0.00	0	,
  PEX6	0.00	0	,
  PEX7	0.00	0	,
  PFKM	0.00	0	,
  PGAP1	0.00	0	,
  PGAP2	0.00	0	,
  PGAP3	0.00	0	,
  PGM1	0.00	0	,
  PGM3	0.00	0	,
  PHF21A	0.00	0	,
  PHF6	0.00	0	,
  PHF8	0.00	0	,
  PHGDH	0.00	0	,
  PHIP	0.00	0	,
  PHOX2B	0.00	0	,
  PIBF1	0.00	0	,
  PIEZO1	0.00	0	,
  PIEZO2	0.00	0	,
  PIGA	0.00	0	,
  PIGG	0.00	0	,
  PIGL	0.00	0	,
  PIGN	0.00	0	,
  PIGO	0.00	0	,
  PIGS	0.00	0	,
  PIGT	0.00	0	,
  PIGV	0.00	0	,
  PIGY	0.00	0	,
  DNAAF6	0.00	0	,
  PIK3C2A	0.00	0	,
  PIK3CA	0.00	0	,
  PIK3R1	0.00	0	,
  PIK3R2	0.00	0	,
  PIP5K1C	0.00	0	,
  PITX1	0.00	0	,
  PITX2	0.00	0	,
  PITX3	0.00	0	,
  PKD1	0.00	0	,
  PKD1L1	0.00	0	,
  PKD2	0.00	0	,
  PKHD1	0.00	0	,
  PKLR	0.00	0	,
  PLAA	0.00	0	,
  PLAG1	0.00	0	,
  PLCB1	0.00	0	,
  PLCB4	0.00	0	,
  PRKCSH	0.00	0	,
  PLEC	0.00	0	,
  PLG	0.00	0	,
  PLK4	0.00	0	,
  PLOD1	0.00	0	,
  PLOD2	0.00	0	,
  PLOD3	0.00	0	,
  PLP1	0.00	0	,
  PLPBP	0.00	0	,
  PMM2	0.00	0	,
  PMP22	0.00	0	,
  PMS2	0.00	0	,
  PNKP	0.00	0	,
  PNPLA1	0.00	0	,
  POC1A	0.00	0	,
  POGZ	0.00	0	,
  POLE	0.00	0	,
  POLG2	0.00	0	,
  POLR1A	0.00	0	,
  POLR1B	0.00	0	,
  POLR1C	0.00	0	,
  POLR1D	0.00	0	,
  POLR3A	0.00	0	,
  POLR3B	0.00	0	,
  POMGNT1	0.00	0	,
  POMGNT2	0.00	0	,
  POMK	0.00	0	,
  POMT1	0.00	0	,
  POMT2	0.00	0	,
  BVES	0.00	0	,
  PORCN	0.00	0	,
  POU1F1	0.00	0	,
  PPIB	0.00	0	,
  PPP1CB	0.00	0	,
  PPP2R1A	0.00	0	,
  PPP2R5D	0.00	0	,
  PPP3CA	0.00	0	,
  PQBP1	0.00	0	,
  PRDM5	0.00	0	,
  PREPL	0.00	0	,
  PRG4	0.00	0	,
  PRIM1	0.00	0	,
  PRKAG2	0.00	0	,
  PRKAR1A	0.00	0	,
  PRKD1	0.00	0	,
  PRMT7	0.00	0	,
  PROK2	0.00	0	,
  PROKR2	0.00	0	,
  PROP1	0.00	0	,
  PRR12	0.00	0	,
  PRRX1	0.00	0	,
  PRSS56	0.00	0	,
  PRUNE1	0.00	0	,
  PRX	0.00	0	,
  PSAP	0.00	0	,
  PSAT1	0.00	0	,
  PSPH	0.00	0	,
  PTCH1	0.00	0	,
  PTCH2	0.00	0	,
  PTDSS1	0.00	0	,
  PTEN	0.00	0	,
  PTF1A	0.00	0	,
  PTH	0.00	0	,
  PTH1R	0.00	0	,
  PTHLH	0.00	0	,
  PTPN11	0.00	0	,
  PTPN14	0.00	0	,
  PTS	0.00	0	,
  PUF60	0.00	0	,
  PXDN	0.00	0	,
  PYCR1	0.00	0	,
  PYCR2	0.00	0	,
  PYGM	0.00	0	,
  PYROXD1	0.00	0	,
  QARS1	0.00	0	,
  QRICH1	0.00	0	,
  RAB11A	0.00	0	,
  RAB11B	0.00	0	,
  RAB18	0.00	0	,
  RAB23	0.00	0	,
  RAB33B	0.00	0	,
  RAB3GAP1	0.00	0	,
  RAB3GAP2	0.00	0	,
  RAB40AL	0.00	0	,
  RAC1	0.00	0	,
  NCOA3	0.00	0	,
  RAD21	0.00	0	,
  RAD51	0.00	0	,
  RAD51C	0.00	0	,
  RAF1	0.00	0	,
  RAI1	0.00	0	,
  RAPSN	0.00	0	,
  RARB	0.00	0	,
  RARS2	0.00	0	,
  RASA1	0.00	0	,
  PRKRA	0.00	0	,
  RB1	0.00	0	,
  RBBP8	0.00	0	,
  RBM10	0.00	0	,
  RBM8A	0.00	0	,
  RBPJ	0.00	0	,
  RCOR1	0.00	0	,
  RD3	0.00	0	,
  RDH12	0.00	0	,
  RECQL4	0.00	0	,
  RELN	0.00	0	,
  REN	0.00	0	,
  RERE	0.00	0	,
  RET	0.00	0	,
  RFT1	0.00	0	,
  RFX6	0.00	0	,
  RIN2	0.00	0	,
  RIPK4	0.00	0	,
  RIT1	0.00	0	,
  RLIM	0.00	0	,
  RMND1	0.00	0	,
  RNASEH2A	0.00	0	,
  RNASEH2B	0.00	0	,
  RNASEH2C	0.00	0	,
  RNASET2	0.00	0	,
  ROBO1	0.00	0	,
  ROBO3	0.00	0	,
  ROGDI	0.00	0	,
  ROR2	0.00	0	,
  RORA	0.00	0	,
  RPE65	0.00	0	,
  RPGRIP1	0.00	0	,
  RPGRIP1L	0.00	0	,
  RPL15	0.00	0	,
  RPL11	0.00	0	,
  RPL26	0.00	0	,
  RPL35A	0.00	0	,
  RPL5	0.00	0	,
  RPS10	0.00	0	,
  RPS17	0.00	0	,
  RPS19	0.00	0	,
  RPS23	0.00	0	,
  RPS24	0.00	0	,
  RPS26	0.00	0	,
  RPS6KA3	0.00	0	,
  RPS7	0.00	0	,
  RRAS	0.00	0	,
  RRAS2	0.00	0	,
  RRM2B	0.00	0	,
  RSPH4A	0.00	0	,
  RSPH9	0.00	0	,
  RSPRY1	0.00	0	,
  RTEL1	0.00	0	,
  RTTN	0.00	0	,
  RUNX2	0.00	0	,
  RXYLT1	0.00	0	,
  RYR1	0.00	0	,
  SACS	0.00	0	,
  SALL1	0.00	0	,
  SALL4	0.00	0	,
  SAMD9	0.00	0	,
  SAMHD1	0.00	0	,
  SASS6	0.00	0	,
  SATB2	0.00	0	,
  SBDS	0.00	0	,
  SC5D	0.00	0	,
  SCARF2	0.00	0	,
  SCLT1	0.00	0	,
  SCN1A	0.00	0	,
  SCN2A	0.00	0	,
  SCN3A	0.00	0	,
  SCN4A	0.00	0	,
  SCO2	0.00	0	,
  SCUBE3	0.00	0	,
  SCYL1	0.00	0	,
  SDCCAG8	0.00	0	,
  SDR9C7	0.00	0	,
  SEC23A	0.00	0	,
  SEC23B	0.00	0	,
  SEC24D	0.00	0	,
  SEC61B	0.00	0	,
  SECISBP2	0.00	0	,
  SELENON	0.00	0	,
  SEMA3A	0.00	0	,
  SEMA3E	0.00	0	,
  SEPSECS	0.00	0	,
  SEPTIN9	0.00	0	,
  SERPINF1	0.00	0	,
  SERPINH1	0.00	0	,
  SET	0.00	0	,
  SETBP1	0.00	0	,
  SETD1A	0.00	0	,
  SETD1B	0.00	0	,
  SETD2	0.00	0	,
  SETD5	0.00	0	,
  SF3B4	0.00	0	,
  SGCG	0.00	0	,
  SGPL1	0.00	0	,
  SGSH	0.00	0	,
  SH3PXD2B	0.00	0	,
  SHANK1	0.00	0	,
  SHANK2	0.00	0	,
  SHANK3	0.00	0	,
  SHH	0.00	0	,
  SHOC2	0.00	0	,
  SHOX	0.00	0	,
  SHROOM3	0.00	0	,
  SIK3	0.00	0	,
  SIL1	0.00	0	,
  SIN3A	0.00	0	,
  SIX1	0.00	0	,
  SIX3	0.00	0	,
  SIX5	0.00	0	,
  SIX6	0.00	0	,
  HHAT	0.00	0	,
  SLC10A7	0.00	0	,
  SLC12A1	0.00	0	,
  SLC12A6	0.00	0	,
  SLC13A5	0.00	0	,
  SLC16A2	0.00	0	,
  SLC17A5	0.00	0	,
  SLC18A3	0.00	0	,
  SLC1A2	0.00	0	,
  SLC20A1	0.00	0	,
  SLC20A2	0.00	0	,
  SLC24A4	0.00	0	,
  SLC25A19	0.00	0	,
  SLC25A20	0.00	0	,
  SLC25A22	0.00	0	,
  SLC25A24	0.00	0	,
  SLC25A38	0.00	0	,
  SLC25A4	0.00	0	,
  SLC26A2	0.00	0	,
  SLC26A3	0.00	0	,
  SLC27A4	0.00	0	,
  SLC29A3	0.00	0	,
  SLC2A10	0.00	0	,
  SLC33A1	0.00	0	,
  SLC35A1	0.00	0	,
  SLC35A2	0.00	0	,
  SLC35A3	0.00	0	,
  SLC35C1	0.00	0	,
  SLC35D1	0.00	0	,
  SLC39A8	0.00	0	,
  SLC45A1	0.00	0	,
  SLC5A7	0.00	0	,
  SLC6A17	0.00	0	,
  SLC6A8	0.00	0	,
  SLC6A9	0.00	0	,
  SLC7A9	0.00	0	,
  SLC9A6	0.00	0	,
  SLIT2	0.00	0	,
  SLX4	0.00	0	,
  SMAD3	0.00	0	,
  SMAD4	0.00	0	,
  SMARCA2	0.00	0	,
  SMARCA4	0.00	0	,
  SMARCB1	0.00	0	,
  SMARCC1	0.00	0	,
  SMARCE1	0.00	0	,
  SMC1A	0.00	0	,
  SMC3	0.00	0	,
  SMCHD1	0.00	0	,
  SMG9	0.00	0	,
  SMN1	0.00	0	,
  SMO	0.00	0	,
  SMOC1	0.00	0	,
  SMOC2	0.00	0	,
  SMPD1	0.00	0	,
  SMPD4	0.00	0	,
  SNAP25	0.00	0	,
  SNAP29	0.00	0	,
  SNIP1	0.00	0	,
  SNRPB	0.00	0	,
  SNRPE	0.00	0	,
  SNX10	0.00	0	,
  SNX14	0.00	0	,
  SON	0.00	0	,
  SOS1	0.00	0	,
  SOS2	0.00	0	,
  SOST	0.00	0	,
  SOX10	0.00	0	,
  SOX11	0.00	0	,
  SOX17	0.00	0	,
  SOX18	0.00	0	,
  SOX2	0.00	0	,
  SOX3	0.00	0	,
  SOX5	0.00	0	,
  SOX6	0.00	0	,
  SOX9	0.00	0	,
  SP7	0.00	0	,
  SPAG1	0.00	0	,
  SPARC	0.00	0	,
  AFG2A	0.00	0	,
  SPATA7	0.00	0	,
  SPECC1L	0.00	0	,
  SPEG	0.00	0	,
  SPG11	0.00	0	,
  SPRED1	0.00	0	,
  SPRY4	0.00	0	,
  SPTAN1	0.00	0	,
  SRCAP	0.00	0	,
  SRD5A2	0.00	0	,
  SRD5A3	0.00	0	,
  SRGAP1	0.00	0	,
  SRP54	0.00	0	,
  SRY	0.00	0	,
  ST14	0.00	0	,
  ST3GAL3	0.00	0	,
  ST3GAL5	0.00	0	,
  STAC3	0.00	0	,
  STAG2	0.00	0	,
  STAMBP	0.00	0	,
  STAT3	0.00	0	,
  STAT5B	0.00	0	,
  STIL	0.00	0	,
  STRA6	0.00	0	,
  STRADA	0.00	0	,
  STS	0.00	0	,
  STX1B	0.00	0	,
  STXBP1	0.00	0	,
  SUCLG1	0.00	0	,
  SUFU	0.00	0	,
  SULT2B1	0.00	0	,
  SUMF1	0.00	0	,
  SUMO1	0.00	0	,
  SUZ12	0.00	0	,
  SYN1	0.00	0	,
  SYNE1	0.00	0	,
  SYNM	0.00	0	,
  SZT2	0.00	0	,
  TAB2	0.00	0	,
  TAC3	0.00	0	,
  TACO1	0.00	0	,
  TACR3	0.00	0	,
  TAF1	0.00	0	,
  TAF13	0.00	0	,
  TAF2	0.00	0	,
  TALDO1	0.00	0	,
  TAPT1	0.00	0	,
  WWTR1	0.00	0	,
  TBC1D1	0.00	0	,
  TBC1D20	0.00	0	,
  TBC1D23	0.00	0	,
  TBC1D24	0.00	0	,
  TBC1D32	0.00	0	,
  TBCD	0.00	0	,
  TBCE	0.00	0	,
  TBCK	0.00	0	,
  TBL1XR1	0.00	0	,
  TBR1	0.00	0	,
  TBX1	0.00	0	,
  TBX15	0.00	0	,
  TBX18	0.00	0	,
  TBX20	0.00	0	,
  TBX22	0.00	0	,
  TBX3	0.00	0	,
  TBX4	0.00	0	,
  TBX5	0.00	0	,
  TBX6	0.00	0	,
  TBXT	0.00	0	,
  TCF12	0.00	0	,
  TCF20	0.00	0	,
  TCF4	0.00	0	,
  TCIRG1	0.00	0	,
  TCOF1	0.00	0	,
  DYNLT2B	0.00	0	,
  TCTN1	0.00	0	,
  TCTN2	0.00	0	,
  TCTN3	0.00	0	,
  TECPR2	0.00	0	,
  TELO2	0.00	0	,
  TENM3	0.00	0	,
  TENT5A	0.00	0	,
  TFAP2A	0.00	0	,
  TFAP2B	0.00	0	,
  TGDS	0.00	0	,
  TGFB2	0.00	0	,
  TGFB3	0.00	0	,
  TGFBR1	0.00	0	,
  TGFBR2	0.00	0	,
  TGIF1	0.00	0	,
  TGM1	0.00	0	,
  THOC2	0.00	0	,
  THOC6	0.00	0	,
  THRA	0.00	0	,
  THSD1	0.00	0	,
  TINF2	0.00	0	,
  TLL1	0.00	0	,
  TMCO1	0.00	0	,
  TMEM107	0.00	0	,
  TMEM138	0.00	0	,
  TMEM165	0.00	0	,
  TMEM216	0.00	0	,
  TMEM231	0.00	0	,
  TMEM237	0.00	0	,
  TMEM260	0.00	0	,
  TMEM38B	0.00	0	,
  TMEM67	0.00	0	,
  TMEM70	0.00	0	,
  TMEM94	0.00	0	,
  TMEM98	0.00	0	,
  TMTC3	0.00	0	,
  TMX2	0.00	0	,
  TNC	0.00	0	,
  TNFRSF13B	0.00	0	,
  TNNI2	0.00	0	,
  TNNT1	0.00	0	,
  TNNT3	0.00	0	,
  TNXB	0.00	0	,
  TOE1	0.00	0	,
  TOP3A	0.00	0	,
  TOR1A	0.00	0	,
  TP53RK	0.00	0	,
  TP63	0.00	0	,
  TPM2	0.00	0	,
  TPM3	0.00	0	,
  TRAF3IP1	0.00	0	,
  TRAF7	0.00	0	,
  TRAIP	0.00	0	,
  TRAP1	0.00	0	,
  TRAPPC11	0.00	0	,
  TRAPPC12	0.00	0	,
  TRAPPC9	0.00	0	,
  TREM2	0.00	0	,
  TREX1	0.00	0	,
  TRIM32	0.00	0	,
  TRIM37	0.00	0	,
  TRIO	0.00	0	,
  TRIP11	0.00	0	,
  TRIP12	0.00	0	,
  TRIP13	0.00	0	,
  TRIP4	0.00	0	,
  TRMT10A	0.00	0	,
  TRMT10C	0.00	0	,
  TRPM7	0.00	0	,
  TRPS1	0.00	0	,
  TRPV3	0.00	0	,
  TRPV4	0.00	0	,
  TRPV6	0.00	0	,
  TSC1	0.00	0	,
  TSC2	0.00	0	,
  TSEN15	0.00	0	,
  TSEN2	0.00	0	,
  TSEN34	0.00	0	,
  TSEN54	0.00	0	,
  TSFM	0.00	0	,
  TSPYL1	0.00	0	,
  TTC21B	0.00	0	,
  ODAD4	0.00	0	,
  SKIC3	0.00	0	,
  TTC7A	0.00	0	,
  TTC8	0.00	0	,
  TTC9	0.00	0	,
  TTI2	0.00	0	,
  TTN	0.00	0	,
  TUBA1A	0.00	0	,
  TUBA8	0.00	0	,
  TUBB	0.00	0	,
  TUBB2A	0.00	0	,
  TUBB2B	0.00	0	,
  TUBB3	0.00	0	,
  TUBB4A	0.00	0	,
  TUBG1	0.00	0	,
  TUBGCP4	0.00	0	,
  TUBGCP6	0.00	0	,
  TUFM	0.00	0	,
  TULP1	0.00	0	,
  TWIST1	0.00	0	,
  TWIST2	0.00	0	,
  TXNDC15	0.00	0	,
  TXNL4A	0.00	0	,
  TYR	0.00	0	,
  TYROBP	0.00	0	,
  UBA1	0.00	0	,
  UBB	0.00	0	,
  UBE2T	0.00	0	,
  UBE3A	0.00	0	,
  UBE3B	0.00	0	,
  UBR1	0.00	0	,
  UBTF	0.00	0	,
  UFD1	0.00	0	,
  UMOD	0.00	0	,
  UMPS	0.00	0	,
  UNC50	0.00	0	,
  UPF3B	0.00	0	,
  UPK3A	0.00	0	,
  UQCRB	0.00	0	,
  UQCRQ	0.00	0	,
  UROS	0.00	0	,
  USP18	0.00	0	,
  USP27X	0.00	0	,
  USP9X	0.00	0	,
  UTRN	0.00	0	,
  VAMP1	0.00	0	,
  VANGL1	0.00	0	,
  VANGL2	0.00	0	,
  VAX1	0.00	0	,
  VDR	0.00	0	,
  VEGFC	0.00	0	,
  VIPAS39	0.00	0	,
  VLDLR	0.00	0	,
  VMA21	0.00	0	,
  VPS13B	0.00	0	,
  VPS33B	0.00	0	,
  VPS53	0.00	0	,
  VRK1	0.00	0	,
  VSX2	0.00	0	,
  VTI1A	0.00	0	,
  VWA2	0.00	0	,
  WASHC5	0.00	0	,
  WBP11	0.00	0	,
  WDPCP	0.00	0	,
  WDR11	0.00	0	,
  WDR19	0.00	0	,
  WDR26	0.00	0	,
  DYNC2I2	0.00	0	,
  WDR35	0.00	0	,
  WDR4	0.00	0	,
  DYNC2I1	0.00	0	,
  WDR62	0.00	0	,
  WDR73	0.00	0	,
  WDR81	0.00	0	,
  WNT1	0.00	0	,
  WNT10B	0.00	0	,
  WNT3	0.00	0	,
  WNT4	0.00	0	,
  WNT5A	0.00	0	,
  WNT7A	0.00	0	,
  WRAP53	0.00	0	,
  WT1	0.00	0	,
  WWOX	0.00	0	,
  XRCC4	0.00	0	,
  XYLT1	0.00	0	,
  XYLT2	0.00	0	,
  YAP1	0.00	0	,
  YWHAG	0.00	0	,
  YY1	0.00	0	,
  ZBTB18	0.00	0	,
  ZBTB20	0.00	0	,
  ZC4H2	0.00	0	,
  ZDHHC9	0.00	0	,
  ZEB2	0.00	0	,
  ZFP57	0.00	0	,
  ZFPM2	0.00	0	,
  ZFYVE26	0.00	0	,
  ZIC1	0.00	0	,
  ZIC2	0.00	0	,
  ZIC3	0.00	0	,
  ZMPSTE24	0.00	0	,
  ZMYND10	0.00	0	,
  ZMYND11	0.00	0	,
  ZNF423	0.00	0	,
  ZNF462	0.00	0	,
  ZNF469	0.00	0	,
  ZNF750	0.00	0	,
  ZNRF3	0.00	0	,
  ZPR1	0.00	0	,
  ZSWIM6	0.00	0	,

• Congenital malformation gene panel - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AAAS	100.00	0	No comment
  ABAT	100.00	0	No comment
  ABCC6	100.00	0	No comment
  ABCD1	99.93	0	No comment
  ABCD3	99.97	0	No comment
  ABL1	100.00	0	No comment
  ACAN	98.89	0	No comment
  ACO2	100.00	0	No comment
  ACTA1	100.00	0	No comment
  ACTB	100.00	0	No comment
  ACTG1	100.00	0	No comment
  ADAMTS10	99.88	0	No comment
  ADAMTS17	89.95	0	No comment
  ADAMTSL2	100.00	0	No comment
  ADAR	100.00	0	No comment
  ADGRG1	100.00	0	No comment
  ADGRG6	100.00	0	No comment
  ADSL	100.00	0	No comment
  AHI1	100.00	0	No comment
  AIMP1	100.00	0	No comment
  AIPL1	100.00	0	No comment
  AIRE	99.88	0	No comment
  AKR1C2	99.98	0	No comment
  AKT1	100.00	0	No comment
  AKT3	100.00	0	No comment
  ALDH1A3	99.83	0	No comment
  ALMS1	100.00	0	No comment
  ALPL	100.00	0	No comment
  ALX1	100.00	0	No comment
  ALX3	91.36	0	No comment
  ALX4	99.70	0	No comment
  AMER1	100.00	0	No comment
  AMT	99.94	0	No comment
  ANKRD11	100.00	0	No comment
  ANOS1	95.04	0	No comment
  ANTXR2	100.00	0	No comment
  AP4B1	100.00	0	No comment
  AR	99.29	0	No comment
  ARFGEF2	100.00	0	No comment
  ARHGAP31	100.00	0	No comment
  ARID1A	94.64	0	No comment
  ARID1B	92.99	0	No comment
  ARL13B	100.00	0	No comment
  ARL6	100.00	0	No comment
  ARVCF	100.00	0	No comment
  ARX	78.98	0	No comment
  ASNS	100.00	0	No comment
  ASPA	100.00	0	No comment
  ASPM	100.00	0	No comment
  ASS1	99.87	0	No comment
  ASXL1	99.91	0	No comment
  ATL1	100.00	0	No comment
  ATM	100.00	0	No comment
  ATP6V0A2	100.00	0	No comment
  ATP7A	100.00	0	No comment
  ATP8A2	99.93	0	No comment
  ANTXR1	100.00	0	No comment
  ATRX	100.00	0	No comment
  ATXN10	99.48	0	No comment
  B3GALNT2	85.88	0	No comment
  B3GALT6	56.12	0	No comment
  B3GAT3	95.56	0	No comment
  B3GLCT	94.89	0	No comment
  B4GALT1	100.00	0	No comment
  B4GAT1	100.00	0	No comment
  B9D1	100.00	0	No comment
  B9D2	100.00	0	No comment
  BBIP1	100.00	0	No comment
  BBS1	100.00	0	No comment
  BBS10	100.00	0	No comment
  BBS12	100.00	0	No comment
  BBS2	100.00	0	No comment
  BBS4	100.00	0	No comment
  BBS5	100.00	0	No comment
  BBS7	100.00	0	No comment
  BBS9	100.00	0	No comment
  BCOR	100.00	0	No comment
  BDNF	100.00	0	No comment
  BIN1	100.00	0	No comment
  BMP2	100.00	0	No comment
  BMP4	100.00	0	No comment
  BMPER	100.00	0	No comment
  BMPR1B	100.00	0	No comment
  BRAF	96.97	0	No comment
  BRIP1	100.00	0	No comment
  BSND	100.00	0	No comment
  BUB1	100.00	0	No comment
  BUB1B	100.00	0	No comment
  BUB3	100.00	0	No comment
  C12ORF57	100.00	0	No comment
  CACNA1A	98.78	0	No comment
  CASK	100.00	0	No comment
  CBL	100.00	0	No comment
  CC2D2A	98.16	0	No comment
  CCBE1	99.97	0	No comment
  CCDC28B	100.00	0	No comment
  CCM2	99.98	0	No comment
  CCNQ	84.41	0	No comment
  CD96	100.00	0	No comment
  CDC6	100.00	0	No comment
  CDH1	98.08	0	No comment
  CDKL5	100.00	0	No comment
  CDKN1C	62.25	0	No comment
  CDON	100.00	0	No comment
  CDT1	87.95	0	No comment
  CENPF	100.00	0	No comment
  CEP164	100.00	0	No comment
  CEP290	99.99	0	No comment
  CEP41	100.00	0	No comment
  CEP57	100.00	0	No comment
  CFTR	99.91	0	No comment
  CHAT	100.00	0	No comment
  CHD7	100.00	0	No comment
  CHMP1A	100.00	0	No comment
  CHN1	99.56	0	No comment
  CHRNA1	100.00	0	No comment
  CHRNB1	100.00	0	No comment
  CHRND	100.00	0	No comment
  CHRNE	100.00	0	No comment
  CHRNG	100.00	0	No comment
  CHST14	98.57	0	No comment
  CHST3	100.00	0	No comment
  CHSY1	91.67	0	No comment
  CHUK	99.76	0	No comment
  CKAP2L	100.00	0	No comment
  CNTN1	100.00	0	No comment
  COG4	100.00	0	No comment
  COL11A1	100.00	0	No comment
  COL11A2	99.14	0	No comment
  COL18A1	97.80	0	No comment
  COL1A1	100.00	0	No comment
  COL1A2	99.93	0	No comment
  COL2A1	100.00	0	No comment
  COL3A1	100.00	0	No comment
  COL4A1	98.71	0	No comment
  COL5A1	98.16	0	No comment
  COL5A2	100.00	0	No comment
  COL6A1	100.00	0	No comment
  COL6A2	100.00	0	No comment
  COL6A3	100.00	0	No comment
  COL7A1	100.00	0	No comment
  COL9A1	100.00	0	No comment
  COL9A2	100.00	0	No comment
  COLEC11	100.00	0	No comment
  COMT	100.00	0	No comment
  COX7B	99.88	0	No comment
  CPLANE1	100.00	0	No comment
  CPT2	98.71	0	No comment
  CRB1	100.00	0	No comment
  CREBBP	100.00	0	No comment
  CRH	100.00	0	No comment
  CRLF1	89.81	0	No comment
  CRPPA	95.75	0	No comment
  CRX	100.00	0	No comment
  CSPP1	100.00	0	No comment
  CTCF	100.00	0	No comment
  CTNS	100.00	0	No comment
  CTSA	100.00	0	No comment
  CUL7	99.99	0	No comment
  CXCR4	100.00	0	No comment
  CYP11B1	100.00	0	No comment
  CYP17A1	100.00	0	No comment
  CYP19A1	100.00	0	No comment
  CYP21A2	100.00	0	No comment
  CYP2U1	93.04	0	No comment
  DARS1	100.00	0	No comment
  DCHS1	99.64	0	No comment
  DCX	100.00	0	No comment
  DDHD2	100.00	0	No comment
  DDX59	100.00	0	No comment
  DHCR24	99.96	0	No comment
  DHCR7	100.00	0	No comment
  DHH	99.75	0	No comment
  DHODH	100.00	0	No comment
  DIS3L2	100.00	0	No comment
  DKC1	100.00	0	No comment
  DLL3	78.42	0	No comment
  DLX5	100.00	0	No comment
  DMD	100.00	0	No comment
  DMPK	99.97	0	No comment
  DNM2	99.95	0	No comment
  DOCK6	99.12	0	No comment
  DOK7	98.77	0	No comment
  DPYD	100.00	0	No comment
  DSP	100.00	0	No comment
  DUSP6	100.00	0	No comment
  DYM	100.00	0	No comment
  DYNC1H1	100.00	0	No comment
  DYNC2H1	100.00	0	No comment
  EARS2	100.00	0	No comment
  GLB1	100.00	0	No comment
  ECEL1	95.92	0	No comment
  EFNB1	100.00	0	No comment
  EFTUD2	100.00	0	No comment
  EGR2	100.00	0	No comment
  EHMT1	98.85	0	No comment
  EIF2AK3	95.52	0	No comment
  EIF4A3	100.00	0	No comment
  EMD	99.84	0	No comment
  EMG1	100.00	0	No comment
  EMX2	100.00	0	No comment
  EOGT	100.00	0	No comment
  EP300	100.00	0	No comment
  EPG5	100.00	0	No comment
  EPHX1	100.00	0	No comment
  ERBB3	100.00	0	No comment
  ERCC1	100.00	0	No comment
  ERCC2	100.00	0	No comment
  ERCC4	100.00	0	No comment
  ERCC5	100.00	0	No comment
  ERCC6	100.00	0	No comment
  ERLIN2	100.00	0	No comment
  ESCO2	100.00	0	No comment
  EVC	94.45	0	No comment
  EVC2	99.55	0	No comment
  EYA1	100.00	0	No comment
  EZH2	100.00	0	No comment
  FA2H	92.06	0	No comment
  FAM111A	100.00	0	No comment
  FAM20C	92.71	0	No comment
  FANCA	99.70	0	No comment
  FANCB	100.00	0	No comment
  FANCC	100.00	0	No comment
  FANCD2	100.00	0	No comment
  FANCE	91.17	0	No comment
  FANCF	100.00	0	No comment
  FANCG	100.00	0	No comment
  FANCI	100.00	0	No comment
  FANCL	100.00	0	No comment
  FANCM	100.00	0	No comment
  FAT4	100.00	0	No comment
  FBN1	100.00	0	No comment
  FBN2	100.00	0	No comment
  FBXL4	100.00	0	No comment
  FGD1	99.39	0	No comment
  FGF10	100.00	0	No comment
  FGF17	100.00	0	No comment
  FGF8	94.82	0	No comment
  FGF9	100.00	0	No comment
  FGFR1	100.00	0	No comment
  FGFR2	100.00	0	No comment
  FGFR3	99.26	0	No comment
  FH	100.00	0	No comment
  FIG4	100.00	0	No comment
  FKBP14	100.00	0	No comment
  FKRP	98.68	0	No comment
  FKTN	100.00	0	No comment
  FLNA	100.00	0	No comment
  FLNB	100.00	0	No comment
  FLRT3	100.00	0	No comment
  FLT4	98.20	0	No comment
  FLVCR2	100.00	0	No comment
  FOXC1	62.57	0	No comment
  FOXC2	72.63	0	No comment
  FOXE1	60.48	0	No comment
  FOXG1	85.88	0	No comment
  FRAS1	100.00	0	No comment
  FREM1	100.00	0	No comment
  FREM2	100.00	0	No comment
  FTO	100.00	0	No comment
  FUZ	100.00	0	No comment
  G6PC3	100.00	0	No comment
  GAA	100.00	0	No comment
  GATA1	100.00	0	No comment
  GATA4	80.69	0	No comment
  GATA6	81.11	0	No comment
  GBA1	100.00	0	No comment
  GBA2	100.00	0	No comment
  GBE1	100.00	0	No comment
  GCSH	76.04	0	No comment
  GDF1	58.25	0	No comment
  GDF3	100.00	0	No comment
  GDF5	100.00	0	No comment
  GDF6	93.56	0	No comment
  GFAP	100.00	0	No comment
  GFM1	100.00	0	No comment
  GJA1	100.00	0	No comment
  GJB2	98.23	0	No comment
  GJC2	81.91	0	No comment
  GLDC	96.53	0	No comment
  GLE1	100.00	0	No comment
  GLI2	95.11	0	No comment
  GLI3	100.00	0	No comment
  GLUL	100.00	0	No comment
  GMPPB	100.00	0	No comment
  GNAI3	100.00	0	No comment
  GNAO1	100.00	0	No comment
  GNPTAB	100.00	0	No comment
  GNPTG	94.69	0	No comment
  GP1BB	25.16	0	No comment
  GPC3	100.00	0	No comment
  GPC6	100.00	0	No comment
  GPI	100.00	0	No comment
  GPSM2	100.00	0	No comment
  GRHL3	100.00	0	No comment
  GRIP1	100.00	0	No comment
  GRM1	100.00	0	No comment
  GUCY2D	99.13	0	No comment
  GUSB	100.00	0	No comment
  H19	100.00	0	No comment
  HADHA	100.00	0	No comment
  HADHB	100.00	0	No comment
  HCCS	100.00	0	No comment
  HDAC8	100.00	0	No comment
  HES7	99.67	0	No comment
  HESX1	100.00	0	No comment
  HIBCH	100.00	0	No comment
  HIRA	99.90	0	No comment
  HOXA11	99.40	0	No comment
  HOXA13	73.35	0	No comment
  HOXA2	99.99	0	No comment
  HOXD13	80.52	0	No comment
  HPGD	99.99	0	No comment
  HRAS	100.00	0	No comment
  HS6ST1	98.52	0	No comment
  HSD17B3	100.00	0	No comment
  HSD17B4	100.00	0	No comment
  HSPG2	99.43	0	No comment
  HYAL1	100.00	0	No comment
  HYLS1	100.00	0	No comment
  IBA57	87.89	0	No comment
  CILK1	100.00	0	No comment
  IDS	100.00	0	No comment
  IDUA	88.67	0	No comment
  IER3IP1	99.93	0	No comment
  IFIH1	100.00	0	No comment
  IFT172	100.00	0	No comment
  IFT27	100.00	0	No comment
  IFT80	100.00	0	No comment
  IFT88	99.71	0	No comment
  IGBP1	100.00	0	No comment
  IGHMBP2	100.00	0	No comment
  IHH	99.88	0	No comment
  IKBKG	99.74	0	No comment
  IL10	100.00	0	No comment
  IL17RD	98.31	0	No comment
  IMPDH1	97.72	0	No comment
  INPP5E	99.54	0	No comment
  INSR	97.31	0	No comment
  IQCB1	100.00	0	No comment
  IRF6	100.00	0	No comment
  ITGA6	100.00	0	No comment
  ITGA8	99.96	0	No comment
  ITGB4	98.41	0	No comment
  ITPR1	100.00	0	No comment
  JAG1	99.66	0	No comment
  JAM3	100.00	0	No comment
  JUP	100.00	0	No comment
  KANSL1	100.00	0	No comment
  KAT6B	100.00	0	No comment
  KCNA1	100.00	0	No comment
  KCNJ13	100.00	0	No comment
  KCNJ2	100.00	0	No comment
  KCNK9	100.00	0	No comment
  KCNQ1OT1	0.55	0	No comment
  KCNQ2	99.98	0	No comment
  KCNT1	99.74	0	No comment
  KCTD1	92.53	0	No comment
  KCTD7	97.35	0	No comment
  KDM6A	100.00	0	No comment
  KIF14	100.00	0	No comment
  KIF1A	99.90	0	No comment
  KIFBP	100.00	0	No comment
  KIF2A	98.88	0	No comment
  KIF5C	100.00	0	No comment
  KIF7	96.94	0	No comment
  KISS1R	94.58	0	No comment
  KMT2D	100.00	0	No comment
  KRAS	100.00	0	No comment
  L1CAM	100.00	0	No comment
  L2HGDH	99.96	0	No comment
  LAMA2	100.00	0	No comment
  LAMB1	100.00	0	No comment
  LAMC3	97.51	0	No comment
  LARGE1	100.00	0	No comment
  LBR	100.00	0	No comment
  LCA5	100.00	0	No comment
  LEMD3	100.00	0	No comment
  LFNG	82.55	0	No comment
  LHB	97.18	0	No comment
  LHX3	94.36	0	No comment
  LHX4	100.00	0	No comment
  LIFR	100.00	0	No comment
  LMBR1	100.00	0	No comment
  LMNA	99.93	0	No comment
  LMNB1	97.46	0	No comment
  LMX1B	99.99	0	No comment
  LRAT	100.00	0	No comment
  LRP2	99.96	0	No comment
  CORIN	98.90	0	No comment
  LZTFL1	100.00	0	No comment
  MAP2K1	100.00	0	No comment
  MAP2K2	99.98	0	No comment
  MAP3K1	92.79	0	No comment
  MASP1	100.00	0	No comment
  MBTPS2	100.00	0	No comment
  MCOLN1	97.27	0	No comment
  MCPH1	100.00	0	No comment
  MED12	99.96	0	No comment
  MEF2C	100.00	0	No comment
  MEGF10	100.00	0	No comment
  MEOX1	100.00	0	No comment
  MESP2	100.00	0	No comment
  MFRP	100.00	0	No comment
  MGP	100.00	0	No comment
  MID1	100.00	0	No comment
  MIPOL1	100.00	0	No comment
  MKKS	100.00	0	No comment
  MKS1	100.00	0	No comment
  MLH1	100.00	0	No comment
  MOCS1	99.95	0	No comment
  MOCS2	100.00	0	No comment
  MPL	100.00	0	No comment
  MPZ	100.00	0	No comment
  MRPS16	100.00	0	No comment
  MRPS22	100.00	0	No comment
  MSH2	100.00	0	No comment
  MSH6	100.00	0	No comment
  MSX1	97.41	0	No comment
  MSX2	100.00	0	No comment
  MTM1	100.00	0	No comment
  MUSK	100.00	0	No comment
  MVK	100.00	0	No comment
  MYBPC1	100.00	0	No comment
  MYH2	100.00	0	No comment
  MYH3	100.00	0	No comment
  MYH8	100.00	0	No comment
  MYOD1	98.47	0	No comment
  NAA10	96.03	0	No comment
  NBN	100.00	0	No comment
  NDE1	100.00	0	No comment
  NEB	99.99	0	No comment
  NECTIN1	100.00	0	No comment
  NEK1	100.00	0	No comment
  NEXMIF	100.00	0	No comment
  NF1	99.95	0	No comment
  NFIX	97.15	0	No comment
  NIN	100.00	0	No comment
  NIPBL	99.98	0	No comment
  NKX2-5	100.00	0	No comment
  NMNAT1	100.00	0	No comment
  NODAL	99.99	0	No comment
  NOG	100.00	0	No comment
  NOTCH2	99.76	0	No comment
  NPC1	98.40	0	No comment
  NPC2	100.00	0	No comment
  NPHP1	100.00	0	No comment
  NPHP3	99.87	0	No comment
  NPRL2	100.00	0	No comment
  NR0B1	100.00	0	No comment
  NR5A1	100.00	0	No comment
  NRAS	100.00	0	No comment
  NSD1	100.00	0	No comment
  NSDHL	100.00	0	No comment
  NSMF	95.23	0	No comment
  NT5C2	100.00	0	No comment
  OBSL1	98.31	0	No comment
  OCLN	100.00	0	No comment
  OCRL	99.77	0	No comment
  OFD1	99.88	0	No comment
  OPHN1	100.00	0	No comment
  SLC25A15	100.00	0	No comment
  ORC4	100.00	0	No comment
  ORC6	100.00	0	No comment
  OTX2	100.00	0	No comment
  PAFAH1B1	100.00	0	No comment
  PALB2	100.00	0	No comment
  PAX2	99.80	0	No comment
  PAX3	100.00	0	No comment
  PAX6	100.00	0	No comment
  PCNT	100.00	0	No comment
  PDE4D	98.77	0	No comment
  PDE6D	100.00	0	No comment
  PDGFB	99.77	0	No comment
  PDGFRB	100.00	0	No comment
  PDHA1	98.17	0	No comment
  PDHB	100.00	0	No comment
  PDHX	99.87	0	No comment
  PDYN	100.00	0	No comment
  PEX1	100.00	0	No comment
  PEX10	88.47	0	No comment
  PEX11B	100.00	0	No comment
  PEX12	100.00	0	No comment
  PEX13	100.00	0	No comment
  PEX14	100.00	0	No comment
  PEX16	100.00	0	No comment
  PEX19	100.00	0	No comment
  PEX2	100.00	0	No comment
  PEX26	100.00	0	No comment
  PEX3	100.00	0	No comment
  PEX5	100.00	0	No comment
  PEX6	98.56	0	No comment
  PEX7	91.13	0	No comment
  PFKM	100.00	0	No comment
  PGM1	100.00	0	No comment
  PHF6	100.00	0	No comment
  PHF8	100.00	0	No comment
  PIGA	100.00	0	No comment
  PIGL	100.00	0	No comment
  PIGV	100.00	0	No comment
  PIK3CA	100.00	0	No comment
  PIK3R2	89.19	0	No comment
  PIP5K1C	95.60	0	No comment
  PITX1	98.27	0	No comment
  PKHD1	100.00	0	No comment
  PLCB4	100.00	0	No comment
  PLEC	99.82	0	No comment
  PLK4	100.00	0	No comment
  PLOD1	99.91	0	No comment
  PLOD3	100.00	0	No comment
  PLP1	100.00	0	No comment
  PMM2	100.00	0	No comment
  PMP22	100.00	0	No comment
  PMS2	99.97	0	No comment
  PNKP	100.00	0	No comment
  POLR1C	100.00	0	No comment
  POLR1D	100.00	0	No comment
  POLR3A	100.00	0	No comment
  POMGNT1	100.00	0	No comment
  POMGNT2	100.00	0	No comment
  POMK	100.00	0	No comment
  POMT1	100.00	0	No comment
  POMT2	99.90	0	No comment
  PORCN	100.00	0	No comment
  POU1F1	100.00	0	No comment
  PQBP1	100.00	0	No comment
  PRDM5	100.00	0	No comment
  PRG4	100.00	0	No comment
  PRKAR1A	100.00	0	No comment
  PROK2	98.51	0	No comment
  PROKR2	100.00	0	No comment
  PROP1	100.00	0	No comment
  PRRX1	100.00	0	No comment
  PRSS56	98.00	0	No comment
  PRX	100.00	0	No comment
  PSAP	100.00	0	No comment
  PSAT1	100.00	0	No comment
  PTCH1	98.48	0	No comment
  PTCH2	100.00	0	No comment
  PTDSS1	100.00	0	No comment
  PTEN	98.86	0	No comment
  PTH1R	99.01	0	No comment
  PTPN11	98.80	0	No comment
  PYCR1	100.00	0	No comment
  RAB18	100.00	0	No comment
  RAB23	100.00	0	No comment
  RAB3GAP1	100.00	0	No comment
  RAB3GAP2	100.00	0	No comment
  RAB40AL	100.00	0	No comment
  RAD21	100.00	0	No comment
  RAD51C	100.00	0	No comment
  RAF1	100.00	0	No comment
  RAI1	96.06	0	No comment
  RAPSN	100.00	0	No comment
  PRKRA	90.07	0	No comment
  RB1	99.04	0	No comment
  RBM10	100.00	0	No comment
  RBM8A	100.00	0	No comment
  RD3	100.00	0	No comment
  RDH12	100.00	0	No comment
  RECQL4	96.37	0	No comment
  RELN	99.96	0	No comment
  RET	98.13	0	No comment
  RIPK4	100.00	0	No comment
  RIT1	100.00	0	No comment
  RMND1	100.00	0	No comment
  RMRP	100.00	0	No comment
  RNASEH2A	100.00	0	No comment
  RNASEH2B	95.67	0	No comment
  RNASEH2C	100.00	0	No comment
  RNU4ATAC	100.00	0	No comment
  ROR2	98.67	0	No comment
  RPE65	100.00	0	No comment
  RPGRIP1	100.00	0	No comment
  RPGRIP1L	96.45	0	No comment
  RPL11	100.00	0	No comment
  RPL15	86.16	0	No comment
  RPL26	100.00	0	No comment
  RPL35A	100.00	0	No comment
  RPL5	99.37	0	No comment
  RPS10	100.00	0	No comment
  RPS17	98.70	0	No comment
  RPS19	100.00	0	No comment
  RPS24	100.00	0	No comment
  RPS26	100.00	0	No comment
  RPS6KA3	98.71	0	No comment
  RPS7	92.83	0	No comment
  RTTN	100.00	0	No comment
  RUNX2	98.51	0	No comment
  RXYLT1	99.84	0	No comment
  RYR1	98.38	0	No comment
  SACS	99.97	0	No comment
  SALL1	100.00	0	No comment
  SALL4	100.00	0	No comment
  SAMHD1	100.00	0	No comment
  SATB2	100.00	0	No comment
  SC5D	100.00	0	No comment
  SCARF2	86.46	0	No comment
  SDCCAG8	100.00	0	No comment
  SEC23A	100.00	0	No comment
  SELENON	84.04	0	No comment
  SEMA3A	100.00	0	No comment
  SEMA3E	100.00	0	No comment
  SEPSECS	99.97	0	No comment
  SEPTIN9	100.00	0	No comment
  SETBP1	99.99	0	No comment
  SF3B4	100.00	0	No comment
  SH3PXD2B	99.68	0	No comment
  SHANK3	83.99	0	No comment
  SHH	92.83	0	No comment
  SHOC2	100.00	0	No comment
  SIX1	100.00	0	No comment
  SIX3	99.59	0	No comment
  SIX5	88.67	0	No comment
  SIX6	100.00	0	No comment
  HHAT	90.28	0	No comment
  SLC12A1	100.00	0	No comment
  SLC12A6	100.00	0	No comment
  SLC20A2	100.00	0	No comment
  SLC25A19	100.00	0	No comment
  SLC26A2	99.96	0	No comment
  SLC2A10	98.97	0	No comment
  SLC35A2	100.00	0	No comment
  SLC35A3	100.00	0	No comment
  SLC35D1	99.99	0	No comment
  SLC6A8	98.78	0	No comment
  SLC9A6	99.96	0	No comment
  SLX4	100.00	0	No comment
  SMAD3	100.00	0	No comment
  SMAD4	100.00	0	No comment
  SMARCA4	100.00	0	No comment
  SMARCB1	100.00	0	No comment
  SMARCE1	100.00	0	No comment
  SMC1A	100.00	0	No comment
  SMC3	100.00	0	No comment
  SMOC1	99.36	0	No comment
  SNAP29	100.00	0	No comment
  SNIP1	100.00	0	No comment
  SOS1	100.00	0	No comment
  SOX10	96.79	0	No comment
  SOX2	98.05	0	No comment
  SOX3	85.62	0	No comment
  SOX9	97.88	0	No comment
  SPATA7	100.00	0	No comment
  SPECC1L	100.00	0	No comment
  SPG11	100.00	0	No comment
  SPRED1	100.00	0	No comment
  SPRY4	100.00	0	No comment
  SPTAN1	100.00	0	No comment
  SRD5A2	100.00	0	No comment
  SRD5A3	99.42	0	No comment
  SRY	39.13	0	No comment
  STAC3	100.00	0	No comment
  STAMBP	100.00	0	No comment
  STAT3	100.00	0	No comment
  STS	100.00	0	No comment
  STXBP1	100.00	0	No comment
  SUFU	100.00	0	No comment
  SUMO1	99.91	0	No comment
  SYNE1	100.00	0	No comment
  TACR3	100.00	0	No comment
  TAF2	100.00	0	No comment
  WWTR1	99.81	0	No comment
  TBC1D20	93.59	0	No comment
  TBX1	77.39	0	No comment
  TBX15	100.00	0	No comment
  TBX22	100.00	0	No comment
  TBX3	99.88	0	No comment
  TBX4	94.32	0	No comment
  TBX5	100.00	0	No comment
  TBX6	100.00	0	No comment
  TBXT	100.00	0	No comment
  TCF4	100.00	0	No comment
  TCOF1	99.99	0	No comment
  TCTN1	93.78	0	No comment
  TCTN2	100.00	0	No comment
  TCTN3	100.00	0	No comment
  TECPR2	100.00	0	No comment
  TFAP2A	100.00	0	No comment
  TGFB3	100.00	0	No comment
  TGFBR1	92.91	0	No comment
  TGFBR2	100.00	0	No comment
  TGIF1	100.00	0	No comment
  TMCO1	100.00	0	No comment
  TMEM138	100.00	0	No comment
  TMEM216	100.00	0	No comment
  TMEM231	100.00	0	No comment
  TMEM237	99.97	0	No comment
  TMEM67	100.00	0	No comment
  TMEM70	100.00	0	No comment
  TNNI2	100.00	0	No comment
  TNNT3	100.00	0	No comment
  TNXB	100.00	0	No comment
  TP63	100.00	0	No comment
  TPM2	100.00	0	No comment
  TRAPPC9	99.98	0	No comment
  TREM2	100.00	0	No comment
  TREX1	100.00	0	No comment
  TRIM32	100.00	0	No comment
  TRIP11	100.00	0	No comment
  TRPV4	100.00	0	No comment
  TSC1	100.00	0	No comment
  TSC2	100.00	0	No comment
  TSEN34	100.00	0	No comment
  TSEN54	94.23	0	No comment
  TSPYL1	100.00	0	No comment
  TTC8	100.00	0	No comment
  TUBA1A	100.00	0	No comment
  TUBA8	100.00	0	No comment
  TUBB2B	100.00	0	No comment
  TUBB3	98.24	0	No comment
  TUBGCP6	100.00	0	No comment
  TULP1	100.00	0	No comment
  TWIST1	70.93	0	No comment
  TYR	100.00	0	No comment
  TYROBP	100.00	0	No comment
  UBA1	100.00	0	No comment
  UBB	100.00	0	No comment
  UBE3A	100.00	0	No comment
  UBE3B	100.00	0	No comment
  UFD1	100.00	0	No comment
  UPF3B	100.00	0	No comment
  UPK3A	99.39	0	No comment
  UTRN	100.00	0	No comment
  VANGL1	100.00	0	No comment
  VANGL2	100.00	0	No comment
  VAX1	89.49	0	No comment
  VIPAS39	100.00	0	No comment
  VPS13B	99.25	0	No comment
  VPS33B	100.00	0	No comment
  VSX2	100.00	0	No comment
  VTI1A	100.00	0	No comment
  WASHC5	100.00	0	No comment
  WDPCP	100.00	0	No comment
  WDR11	100.00	0	No comment
  WDR19	100.00	0	No comment
  DYNC2I2	93.01	0	No comment
  WDR35	100.00	0	No comment
  DYNC2I1	99.86	0	No comment
  WDR62	100.00	0	No comment
  WDR81	99.97	0	No comment
  WNT10B	98.99	0	No comment
  WNT3	100.00	0	No comment
  WNT4	92.22	0	No comment
  WNT5A	99.97	0	No comment
  WNT7A	100.00	0	No comment
  WT1	96.46	0	No comment
  WWOX	100.00	0	No comment
  ZBTB18	100.00	0	No comment
  ZDHHC9	100.00	0	No comment
  ZEB2	100.00	0	No comment
  ZFPM2	99.96	0	No comment
  ZFYVE26	100.00	0	No comment
  ZIC1	100.00	0	No comment
  ZIC2	80.54	0	No comment
  ZMPSTE24	100.00	0	No comment
  ZNF423	100.00	0	No comment
  ZNF469	99.70	0	No comment

• Skeletal dysplasia (394 genes) - VUB
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCC9	100.00	0	No comment
  ABL1	100.00	0	No comment
  ACAN	98.89	0	No comment
  ACP4	100.00	0	No comment
  ACP5	100.00	0	No comment
  ACVR1	100.00	0	No comment
  ADAMTS10	99.88	0	No comment
  ADAMTS17	89.95	0	No comment
  ADAMTSL2	100.00	0	No comment
  AFF4	100.00	0	No comment
  AGA	100.00	0	No comment
  AGPS	100.00	0	No comment
  AHDC1	100.00	0	No comment
  AKT1	100.00	0	No comment
  ALPL	100.00	0	No comment
  ALX1	100.00	0	No comment
  ALX3	91.36	0	No comment
  ALX4	99.70	0	No comment
  AMER1	100.00	0	No comment
  ANKH	100.00	0	No comment
  ANO5	100.00	0	No comment
  ANTXR2	100.00	0	No comment
  APC	100.00	0	No comment
  ARCN1	100.00	0	No comment
  ARHGAP31	100.00	0	No comment
  ARID1A	94.64	0	No comment
  ARID1B	92.99	0	No comment
  SLURP1	85.73	0	No comment
  ARSL	100.00	0	No comment
  ASCC1	91.27	0	No comment
  ASXL2	100.00	0	No comment
  ATP6V0A2	100.00	0	No comment
  B3GALT6	56.12	0	No comment
  B3GAT3	95.56	0	No comment
  B4GALT7	93.23	0	No comment
  BGN	100.00	0	No comment
  BHLHA9	38.48	0	No comment
  BMP1	99.86	0	No comment
  BMP2	100.00	0	No comment
  BMPER	100.00	0	No comment
  BMPR1B	100.00	0	No comment
  BRIP1	100.00	0	No comment
  C1R	100.00	0	No comment
  C1S	100.00	0	No comment
  C2CD3	100.00	0	No comment
  CA2	100.00	0	No comment
  CANT1	100.00	0	No comment
  CASR	100.00	0	No comment
  CC2D2A	98.16	0	No comment
  CCDC8	100.00	0	No comment
  CCN6	100.00	0	No comment
  CCNQ	84.41	0	No comment
  CD96	100.00	0	No comment
  CDC45	100.00	0	No comment
  CDC6	100.00	0	No comment
  CDH3	100.00	0	No comment
  CDKN1C	62.25	0	No comment
  CDT1	87.95	0	No comment
  CEP120	100.00	0	No comment
  CEP290	99.99	0	No comment
  CHD7	100.00	0	No comment
  CHST14	98.57	0	No comment
  CHST3	100.00	0	No comment
  CHSY1	91.67	0	No comment
  CKAP2L	100.00	0	No comment
  CLCN5	100.00	0	No comment
  CLCN7	94.99	0	No comment
  COG1	99.24	0	No comment
  COL10A1	100.00	0	No comment
  COL11A1	100.00	0	No comment
  COL11A2	99.14	0	No comment
  COL1A1	100.00	0	No comment
  COL1A2	99.93	0	No comment
  COL2A1	100.00	0	No comment
  COL9A1	100.00	0	No comment
  COL9A2	100.00	0	No comment
  COL9A3	96.41	0	No comment
  COMP	99.90	0	No comment
  CPLANE1	100.00	0	No comment
  CREB3L1	100.00	0	No comment
  CREBBP	100.00	0	No comment
  CRTAP	89.72	0	No comment
  CSPP1	100.00	0	No comment
  CTSA	100.00	0	No comment
  CTSK	100.00	0	No comment
  CUL7	99.99	0	No comment
  CYP26B1	100.00	0	No comment
  DDR2	100.00	0	No comment
  RIGI	100.00	0	No comment
  DDX59	100.00	0	No comment
  DHCR24	99.96	0	No comment
  DHODH	100.00	0	No comment
  DLL3	78.42	0	No comment
  DLX3	100.00	0	No comment
  DLX5	100.00	0	No comment
  DLX6	99.69	0	No comment
  DMP1	100.00	0	No comment
  DOCK6	99.12	0	No comment
  DVL1	100.00	0	No comment
  DVL3	100.00	0	No comment
  DYM	100.00	0	No comment
  DYNC2H1	100.00	0	No comment
  DYNC2LI1	100.00	0	No comment
  GLB1	100.00	0	No comment
  EDNRA	100.00	0	No comment
  EFNA4	100.00	0	No comment
  EFNB1	100.00	0	No comment
  EFTUD2	100.00	0	No comment
  EIF2AK3	95.52	0	No comment
  EIF4A3	100.00	0	No comment
  ELMO2	100.00	0	No comment
  ENPP1	96.48	0	No comment
  EOGT	100.00	0	No comment
  EP300	100.00	0	No comment
  ERCC4	100.00	0	No comment
  ERF	100.00	0	No comment
  ESCO2	100.00	0	No comment
  EVC	94.45	0	No comment
  EVC2	99.55	0	No comment
  EXT1	100.00	0	No comment
  EXT2	100.00	0	No comment
  EZH2	100.00	0	No comment
  FAM111A	100.00	0	No comment
  FAM20C	92.71	0	No comment
  FANCA	99.70	0	No comment
  FANCB	100.00	0	No comment
  FANCC	100.00	0	No comment
  FANCD2	100.00	0	No comment
  FANCE	91.17	0	No comment
  FANCF	100.00	0	No comment
  FANCG	100.00	0	No comment
  FANCI	100.00	0	No comment
  FANCL	100.00	0	No comment
  FBLN1	95.59	0	No comment
  FBN1	100.00	0	No comment
  FBN2	100.00	0	No comment
  FBXW4	92.44	0	No comment
  FERMT3	100.00	0	No comment
  FGF10	100.00	0	No comment
  FGF16	100.00	0	No comment
  FGF23	100.00	0	No comment
  FGF3	80.02	0	No comment
  FGF4	70.06	0	No comment
  FGF8	94.82	0	No comment
  FGF9	100.00	0	No comment
  FGFR1	100.00	0	No comment
  FGFR2	100.00	0	No comment
  FGFR3	99.26	0	No comment
  FIG4	100.00	0	No comment
  FKBP10	100.00	0	No comment
  FLNA	100.00	0	No comment
  FLNB	100.00	0	No comment
  FMN1	100.00	0	No comment
  FN1	100.00	0	No comment
  FREM1	100.00	0	No comment
  FUCA1	100.00	0	No comment
  FZD2	98.72	0	No comment
  GALNS	96.18	0	No comment
  GALNT3	100.00	0	No comment
  GDF3	100.00	0	No comment
  GDF5	100.00	0	No comment
  GDF6	93.56	0	No comment
  GJA1	100.00	0	No comment
  GLI3	100.00	0	No comment
  GNAS	98.96	0	No comment
  GNPAT	100.00	0	No comment
  GNPTAB	100.00	0	No comment
  GNPTG	94.69	0	No comment
  GNS	100.00	0	No comment
  GORAB	100.00	0	No comment
  GPC3	100.00	0	No comment
  GPC6	100.00	0	No comment
  GPR68	100.00	0	No comment
  GPX4	87.15	0	No comment
  GREM1	100.00	0	No comment
  GUSB	100.00	0	No comment
  HDAC4	100.00	0	No comment
  HDAC8	100.00	0	No comment
  HES7	99.67	0	No comment
  HOXA11	99.40	0	No comment
  HOXA13	73.35	0	No comment
  HOXD13	80.52	0	No comment
  HPGD	99.99	0	No comment
  HSPG2	99.43	0	No comment
  HUWE1	100.00	0	No comment
  CILK1	100.00	0	No comment
  IDH1	100.00	0	No comment
  IDH2	92.01	0	No comment
  IDS	100.00	0	No comment
  IFITM5	100.00	0	No comment
  IFT122	100.00	0	No comment
  IFT140	100.00	0	No comment
  IFT172	100.00	0	No comment
  IFT43	100.00	0	No comment
  IFT80	100.00	0	No comment
  IGF1R	100.00	0	No comment
  IHH	99.88	0	No comment
  IKBKG	99.74	0	No comment
  IL11RA	100.00	0	No comment
  IL1RN	100.00	0	No comment
  BPNT2	98.65	0	No comment
  INPPL1	96.74	0	No comment
  JAG1	99.66	0	No comment
  KAT6B	100.00	0	No comment
  KIF22	100.00	0	No comment
  KIF7	96.94	0	No comment
  KRAS	100.00	0	No comment
  LBR	100.00	0	No comment
  LEMD3	100.00	0	No comment
  LFNG	82.55	0	No comment
  LIFR	100.00	0	No comment
  LMBR1	100.00	0	No comment
  LMNA	99.93	0	No comment
  LMX1B	99.99	0	No comment
  LONP1	99.83	0	No comment
  LPIN2	100.00	0	No comment
  LRIT3	100.00	0	No comment
  CORIN	98.90	0	No comment
  LRP5	97.87	0	No comment
  LTBP2	100.00	0	No comment
  LTBP3	96.02	0	No comment
  MAB21L2	100.00	0	No comment
  MAFB	99.89	0	No comment
  MAN2B1	100.00	0	No comment
  MAN2C1	100.00	0	No comment
  MAP3K7	100.00	0	No comment
  MATN3	86.25	0	No comment
  MEGF8	99.99	0	No comment
  MEOX1	100.00	0	No comment
  MESP2	100.00	0	No comment
  MGP	100.00	0	No comment
  MITF	100.00	0	No comment
  MKS1	100.00	0	No comment
  MMP13	100.00	0	No comment
  MMP2	100.00	0	No comment
  MMP9	100.00	0	No comment
  MNX1	71.50	0	No comment
  MSX2	100.00	0	No comment
  MYCN	86.70	0	No comment
  MYT1	100.00	0	No comment
  NAGLU	87.38	0	No comment
  NEK1	100.00	0	No comment
  NEU1	100.00	0	No comment
  NF1	99.95	0	No comment
  NFIX	97.15	0	No comment
  NIPBL	99.98	0	No comment
  NKX3-2	96.89	0	No comment
  NLRP3	100.00	0	No comment
  NOG	100.00	0	No comment
  NOTCH2	99.76	0	No comment
  NPRL2	100.00	0	No comment
  NSD1	100.00	0	No comment
  NSDHL	100.00	0	No comment
  NTRK2	100.00	0	No comment
  OBSL1	98.31	0	No comment
  OFD1	99.88	0	No comment
  SLC25A15	100.00	0	No comment
  ORC4	100.00	0	No comment
  ORC6	100.00	0	No comment
  OSTM1	99.55	0	No comment
  P3H1	99.77	0	No comment
  P4HB	99.90	0	No comment
  PALB2	100.00	0	No comment
  PAM16	96.78	0	No comment
  PANK2	98.60	0	No comment
  PAPSS2	100.00	0	No comment
  PCNT	100.00	0	No comment
  PCYT1A	100.00	0	No comment
  PDE3A	100.00	0	No comment
  PDE4D	98.77	0	No comment
  PEX7	91.13	0	No comment
  PGM3	99.99	0	No comment
  PHEX	100.00	0	No comment
  PIGV	100.00	0	No comment
  PIK3CA	100.00	0	No comment
  PITX1	98.27	0	No comment
  PLEKHM1	100.00	0	No comment
  PLOD2	100.00	0	No comment
  PLS3	100.00	0	No comment
  POLR1A	100.00	0	No comment
  POLR1C	100.00	0	No comment
  POLR1D	100.00	0	No comment
  BVES	100.00	0	No comment
  PORCN	100.00	0	No comment
  PPIB	100.00	0	No comment
  PRKAR1A	100.00	0	No comment
  PROK2	98.51	0	No comment
  PTDSS1	100.00	0	No comment
  PTH1R	99.01	0	No comment
  PTHLH	100.00	0	No comment
  PTPN11	98.80	0	No comment
  PYCR1	100.00	0	No comment
  RAB23	100.00	0	No comment
  RAB33B	100.00	0	No comment
  RAD21	100.00	0	No comment
  RAD51C	100.00	0	No comment
  RASGRP2	100.00	0	No comment
  RBM8A	100.00	0	No comment
  RBPJ	100.00	0	No comment
  RECQL4	96.37	0	No comment
  RMRP	100.00	0	No comment
  RNU4ATAC	100.00	0	No comment
  ROR2	98.67	0	No comment
  RPGRIP1L	96.45	0	No comment
  RSPO2	100.00	0	No comment
  RSPRY1	100.00	0	No comment
  RUNX2	98.51	0	No comment
  SALL1	100.00	0	No comment
  SALL4	100.00	0	No comment
  SBDS	100.00	0	No comment
  SEC24D	100.00	0	No comment
  SERPINF1	100.00	0	No comment
  SERPINH1	100.00	0	No comment
  SETD2	100.00	0	No comment
  SF3B4	100.00	0	No comment
  SH3BP2	91.63	0	No comment
  SH3PXD2B	99.68	0	No comment
  SHOX	90.47	0	No comment
  HHAT	90.28	0	No comment
  SLC17A5	100.00	0	No comment
  SLC26A2	99.96	0	No comment
  SLC29A3	98.83	0	No comment
  SLC34A3	100.00	0	No comment
  SLC35D1	99.99	0	No comment
  SLC39A13	100.00	0	No comment
  SLCO5A1	100.00	0	No comment
  SLX4	100.00	0	No comment
  SMAD3	100.00	0	No comment
  SMAD4	100.00	0	No comment
  SMARCA2	98.07	0	No comment
  SMARCA4	100.00	0	No comment
  SMARCAL1	100.00	0	No comment
  SMARCB1	100.00	0	No comment
  SMC1A	100.00	0	No comment
  SMC3	100.00	0	No comment
  SMO	94.17	0	No comment
  SNRPB	100.00	0	No comment
  SNX10	100.00	0	No comment
  SOST	99.39	0	No comment
  SOX6	100.00	0	No comment
  SOX9	97.88	0	No comment
  SP7	100.00	0	No comment
  STAT3	100.00	0	No comment
  SULF1	100.00	0	No comment
  SUMF1	100.00	0	No comment
  TBCE	100.00	0	No comment
  TBX15	100.00	0	No comment
  TBX3	99.88	0	No comment
  TBX4	94.32	0	No comment
  TBX5	100.00	0	No comment
  TBX6	100.00	0	No comment
  TBXAS1	100.00	0	No comment
  TCF12	100.00	0	No comment
  TCIRG1	100.00	0	No comment
  TCOF1	99.99	0	No comment
  TCTN3	100.00	0	No comment
  TGDS	100.00	0	No comment
  TGFB1	99.97	0	No comment
  TGFB2	100.00	0	No comment
  TGFBR1	92.91	0	No comment
  TGFBR2	100.00	0	No comment
  THPO	100.00	0	No comment
  TMCO1	100.00	0	No comment
  TMEM216	100.00	0	No comment
  TMEM38B	100.00	0	No comment
  TMEM67	100.00	0	No comment
  TNFRSF11B	100.00	0	No comment
  TP63	100.00	0	No comment
  TRAPPC2	95.31	0	No comment
  TREM2	100.00	0	No comment
  TRIP11	100.00	0	No comment
  TRIP4	100.00	0	No comment
  TRPS1	100.00	0	No comment
  TRPV4	100.00	0	No comment
  TTC21B	100.00	0	No comment
  TWIST1	70.93	0	No comment
  TYROBP	100.00	0	No comment
  UBE2T	100.00	0	No comment
  WDR19	100.00	0	No comment
  DYNC2I2	93.01	0	No comment
  WDR35	100.00	0	No comment
  WNT1	98.70	0	No comment
  WNT10B	98.99	0	No comment
  WNT3	100.00	0	No comment
  WNT5A	99.97	0	No comment
  WNT6	96.35	0	No comment
  WNT7A	100.00	0	No comment
  XYLT1	88.83	0	No comment
  XYLT2	98.70	0	No comment
  ZEB2	100.00	0	No comment
  ZIC1	100.00	0	No comment
  ZMPSTE24	100.00	0	No comment
  ZSWIM6	88.87	0	No comment

• Skeletal dysplasia (genepanel) - UZA
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ALPL	100.00	1
  ALX3	100.00	1
  ARID1A	99.99	1
  B3GALT6	92.42	1
  CDC73	99.98	1
  COL11A1	99.99	1
  COL9A2	100.00	1
  CTSK	100.00	1
  DDR2	100.00	1
  DHCR24	100.00	1
  DVL1	100.00	1
  FAM20B	100.00	1
  FUCA1	100.00	1
  GNAI3	99.99	1
  GNPAT	99.96	1
  GORAB	99.99	1
  HHAT	100.00	1
  HS2ST1	99.93	1
  HSPG2	99.99	1
  IARS2	100.00	1
  LBR	99.99	1
  LMNA	100.00	1
  NLRP3	100.00	1
  NMNAT1	95.03	1
  NOTCH2	100.00	1
  NRAS	99.97	1
  ORC1	100.00	1
  P3H1	100.00	1
  PHGDH	100.00	1
  PIGV	100.00	1
  PLOD1	100.00	1
  POLR3GL	100.00	1
  PRKACB	100.00	1
  PRRX1	100.00	1
  RBM8A	100.00	1
  SDCCAG8	99.99	1
  SF3B4	100.00	1
  SKI	100.00	1
  SLC25A24	99.30	1
  SLC35D1	99.68	1
  TBCE	100.00	1
  TBX15	100.00	1
  TGFB2	100.00	1
  TMCO1	99.91	1
  TMEM53	100.00	1
  ZMPSTE24	99.99	1
  CHST3	100.00	1
  DNA2	99.99	1
  FBXW4	98.98	1
  FGFR2	100.00	1
  KAT6B	100.00	1
  KIF5B	99.93	1
  PAPSS2	99.93	1
  POLR3A	100.00	1
  SLC29A3	100.00	1
  SMC3	99.98	1
  TCTN3	100.00	1
  ALG9	94.06	1
  ALX4	100.00	1
  ANO5	100.00	1
  ARCN1	100.00	1
  B3GAT3	94.88	1
  BANF1	100.00	1
  BBS1	100.00	1
  C2CD3	99.99	1
  CDKN1C	100.00	1
  CREB3L1	100.00	1
  CYP2R1	98.84	1
  DPAGT1	100.00	1
  DYNC2H1	99.84	1
  EED	100.00	1
  EXT2	100.00	1
  FAM111A	100.00	1
  FAR1	99.98	1
  FERMT3	100.00	1
  HRAS	100.00	1
  IFITM5	100.00	1
  INPPL1	99.93	1
  LRP4	100.00	1
  LRP5	100.00	1
  LTBP3	100.00	1
  MMP13	99.99	1
  NADSYN1	100.00	1
  PIK3C2A	99.99	1
  PLCB3	100.00	1
  RASGRP2	100.00	1
  SERPINH1	100.00	1
  SLC39A13	100.00	1
  TCIRG1	100.00	1
  TMEM138	100.00	1
  TMEM216	100.00	1
  ABCC9	99.99	1
  ALX1	100.00	1
  ATP6V0A2	100.00	1
  BBS10	100.00	1
  CEP290	99.84	1
  CHST11	100.00	1
  COL2A1	100.00	1
  CYP27B1	100.00	1
  FGF23	100.00	1
  GDF3	100.00	1
  GNPTAB	100.00	1
  GNS	100.00	1
  IFT81	94.63	1
  LEMD3	100.00	1
  MAPKAPK5	100.00	1
  MGP	100.00	1
  PDE3A	100.00	1
  PEX5	100.00	1
  POLE	100.00	1
  POLR3B	99.98	1
  PTHLH	100.00	1
  PTPN11	99.98	1
  RFLNA	99.50	1
  SP7	100.00	1
  TBX3	100.00	1
  TBX5	100.00	1
  TCTN1	94.52	1
  TCTN2	99.95	1
  TRPV4	100.00	1
  VDR	99.44	1
  VPS33A	95.74	1
  WNT1	100.00	1
  WNT10B	100.00	1
  FGF9	99.98	1
  GPC6	100.00	1
  KL	98.69	1
  POLR1D	99.94	1
  TGDS	99.99	1
  TNFSF11	100.00	1
  AKT1	100.00	1
  GNPNAT1	99.99	1
  GSC	100.00	1
  IFT43	100.00	1
  KIAA0586	95.70	1
  LTBP2	100.00	1
  MMP14	100.00	1
  SEC23A	99.98	1
  SIX1	100.00	1
  SMOC1	100.00	1
  SRP54	99.97	1
  TGFB3	100.00	1
  LYSET	100.00	1
  TRIP11	99.98	1
  TTC8	99.96	1
  ACAN	98.67	1
  ADAMTS17	98.97	1
  BBS4	100.00	1
  CEP152	99.99	1
  CHST14	99.49	1
  CHSY1	99.98	1
  DLL4	100.00	1
  EFL1	100.00	1
  FBN1	100.00	1
  FMN1	100.00	1
  GREM1	100.00	1
  IDH2	99.93	1
  KIF7	99.98	1
  LRRK1	100.00	1
  MAP2K1	100.00	1
  MESD	100.00	1
  MESP2	100.00	1
  PPIB	100.00	1
  SMAD3	100.00	1
  SMAD6	100.00	1
  TCF12	100.00	1
  ANKRD11	100.00	1
  BBS2	100.00	1
  CBFB	100.00	1
  CDH3	100.00	1
  CDK10	100.00	1
  CDT1	99.07	1
  CLCN7	99.78	1
  COG4	100.00	1
  CREBBP	100.00	1
  DHODH	100.00	1
  GALNS	100.00	1
  GINS2	100.00	1
  GNPTG	99.45	1
  IFT140	100.00	1
  KIF22	100.00	1
  MBTPS1	100.00	1
  MMP2	100.00	1
  ORC6	99.99	1
  PAM16	100.00	1
  PRMT7	99.99	1
  RPGRIP1L	98.82	1
  RPL13	100.00	1
  RSPRY1	100.00	1
  SALL1	100.00	1
  TBC1D24	100.00	1
  TBX6	100.00	1
  TMEM231	100.00	1
  TRAF7	100.00	1
  VAC14	100.00	1
  XYLT1	98.81	1
  ACTG1	100.00	1
  BHLHA9	99.55	1
  CANT1	99.97	1
  CDC6	100.00	1
  COG1	100.00	1
  COL1A1	100.00	1
  DLX3	100.00	1
  EFTUD2	100.00	1
  EIF4A3	99.99	1
  FKBP10	100.00	1
  FZD2	100.00	1
  HES7	100.00	1
  KCNJ2	100.00	1
  KIAA0753	100.00	1
  MEOX1	100.00	1
  MKS1	100.00	1
  MYH3	100.00	1
  NAGLU	99.96	1
  NF1	99.98	1
  NOG	100.00	1
  NXN	100.00	1
  P4HB	100.00	1
  PLEKHM1	100.00	1
  PRKAR1A	100.00	1
  PYCR1	100.00	1
  SERPINF1	100.00	1
  SGSH	100.00	1
  SMARCE1	99.97	1
  SOST	100.00	1
  SOX9	100.00	1
  SUZ12	99.97	1
  TBX4	99.45	1
  WNT3	100.00	1
  XYLT2	100.00	1
  DYM	99.99	1
  LPIN2	99.99	1
  RBBP8	99.96	1
  SMAD2	100.00	1
  SMAD4	100.00	1
  SMCHD1	99.97	1
  TNFRSF11A	97.91	1
  ACP5	100.00	1
  ADAMTS10	100.00	1
  AKT2	100.00	1
  APC2	99.99	1
  B9D2	100.00	1
  CCDC8	100.00	1
  COMP	100.00	1
  DLL3	99.85	1
  DOCK6	100.00	1
  EPS15L1	100.00	1
  ERF	100.00	1
  FUZ	100.00	1
  GPX4	96.50	1
  LONP1	100.00	1
  MAN2B1	100.00	1
  MEGF8	99.96	1
  NFIX	99.97	1
  PRKACA	100.00	1
  SMARCA4	100.00	1
  TGFB1	100.00	1
  TYROBP	100.00	1
  UBA2	99.97	1
  ACVR1	100.00	1
  AFF3	100.00	1
  AGPS	99.76	1
  ANAPC1	99.82	1
  ARHGAP25	100.00	1
  BBS5	99.97	1
  CKAP2L	100.00	1
  COLEC11	100.00	1
  CRIPT	100.00	1
  CYP26B1	100.00	1
  DNMT3A	100.00	1
  DYNC2LI1	100.00	1
  EIF2AK3	99.96	1
  EN1	100.00	1
  EXOC6B	99.77	1
  FN1	100.00	1
  FOSL2	100.00	1
  GALNT3	99.99	1
  GLI2	100.00	1
  HAAO	100.00	1
  HDAC4	100.00	1
  HOXD13	100.00	1
  IDH1	100.00	1
  IFIH1	99.99	1
  IFT172	100.00	1
  IHH	100.00	1
  IL1RN	100.00	1
  KYNU	99.99	1
  LTBP1	100.00	1
  MAP3K20	100.00	1
  MATN3	99.95	1
  MTX2	99.95	1
  MYCN	99.97	1
  NBAS	100.00	1
  NPPC	100.00	1
  OBSL1	99.99	1
  ORC4	100.00	1
  PAX3	100.00	1
  PKDCC	99.76	1
  POLR1A	100.00	1
  POLR1B	100.00	1
  SIX2	100.00	1
  SMARCAL1	100.00	1
  TMEM237	99.98	1
  TRAF3IP1	100.00	1
  TTC21B	99.97	1
  WDPCP	91.91	1
  WDR35	99.99	1
  WNT6	100.00	1
  ASXL1	100.00	1
  BMP2	99.98	1
  COL9A3	100.00	1
  CTSA	100.00	1
  DDRGK1	100.00	1
  DPM1	97.07	1
  ELMO2	100.00	1
  GDF5	100.00	1
  GNAS	100.00	1
  GZF1	100.00	1
  IFT52	100.00	1
  LAMA5	99.87	1
  MAFB	100.00	1
  MKKS	99.98	1
  MMP9	100.00	1
  PLCB4	100.00	1
  SALL4	100.00	1
  SNRPB	100.00	1
  CFAP410	100.00	1
  DONSON	99.81	1
  PCNT	100.00	1
  ALG12	100.00	1
  CCDC134	100.00	1
  CDC45	100.00	1
  EP300	100.00	1
  FBLN1	99.89	1
  MCM5	100.00	1
  MYO18B	100.00	1
  PISD	100.00	1
  SMARCB1	100.00	1
  SPECC1L	100.00	1
  ALG3	100.00	1
  ARHGAP31	100.00	1
  ARL6	100.00	1
  ATR	99.98	1
  CASR	100.00	1
  COPB2	100.00	1
  CRTAP	99.90	1
  DVL3	100.00	1
  DYNLT2B	100.00	1
  EOGT	99.99	1
  FLNB	100.00	1
  GLB1	100.00	1
  HYAL1	100.00	1
  IFT122	100.00	1
  IFT80	99.94	1
  LMOD3	100.00	1
  MASP1	100.00	1
  MECOM	100.00	1
  NEPRO	99.99	1
  PCYT1A	100.00	1
  PIK3CA	99.97	1
  PLOD2	99.95	1
  POC1A	100.00	1
  PTH1R	100.00	1
  SETD2	99.99	1
  SLCO2A1	100.00	1
  SUMF1	100.00	1
  TGFBR2	100.00	1
  THPO	100.00	1
  TOP2B	99.85	1
  TP63	99.99	1
  TRAIP	100.00	1
  WNT5A	100.00	1
  WNT7A	100.00	1
  ZIC1	100.00	1
  AGA	100.00	1
  ANTXR2	100.00	1
  BBS12	100.00	1
  BBS7	99.97	1
  BMPR1B	100.00	1
  CC2D2A	98.21	1
  CENPE	99.92	1
  DMP1	100.00	1
  DSPP	100.00	1
  EDNRA	100.00	1
  EVC	96.08	1
  EVC2	100.00	1
  FGFR3	100.00	1
  HPGD	99.99	1
  IDUA	99.84	1
  INTU	100.00	1
  MAB21L2	100.00	1
  MANBA	99.99	1
  NEK1	99.99	1
  NKX3-2	100.00	1
  PRKG2	99.98	1
  RAB33B	100.00	1
  RBPJ	100.00	1
  SEC24D	100.00	1
  SGMS2	100.00	1
  SH3BP2	98.03	1
  SLC10A7	100.00	1
  TAPT1	98.76	1
  TMEM165	99.97	1
  UFSP2	99.99	1
  WDR19	99.94	1
  ANKH	100.00	1
  ARSB	99.92	1
  ARSK	99.98	1
  B4GALT7	99.95	1
  BNIP1	100.00	1
  CEP120	99.96	1
  CPLANE1	99.97	1
  CSF1R	100.00	1
  DNAJC21	100.00	1
  FBN2	99.99	1
  FGF10	100.00	1
  HSPA9	100.00	1
  IL6ST	99.99	1
  KIAA0825	99.99	1
  LIFR	99.94	1
  MSX2	100.00	1
  NIPBL	99.91	1
  NPR3	100.00	1
  NSD1	100.00	1
  PDE4D	99.99	1
  PDGFRB	100.00	1
  PITX1	100.00	1
  SH3PXD2B	100.00	1
  SLC26A2	100.00	1
  SPARC	100.00	1
  SQSTM1	100.00	1
  TCOF1	100.00	1
  XRCC4	100.00	1
  ZSWIM6	97.48	1
  ARID1B	99.51	1
  CCN6	100.00	1
  CILK1	99.92	1
  COL10A1	100.00	1
  COL11A2	100.00	1
  COL9A1	99.99	1
  CUL7	100.00	1
  DSE	99.66	1
  EDN1	100.00	1
  ENPP1	99.27	1
  FIG4	100.00	1
  FOXC1	99.89	1
  GCM2	100.00	1
  GJA1	100.00	1
  GMNN	99.99	1
  ID4	97.95	1
  MAP3K7	100.00	1
  MCM3	100.00	1
  NEU1	100.00	1
  OSTM1	99.96	1
  PEX7	100.00	1
  PGM3	100.00	1
  POLR1C	97.57	1
  RAB23	100.00	1
  RIPPLY2	99.85	1
  RUNX2	100.00	1
  SCUBE3	100.00	1
  SLC17A5	99.99	1
  SLC35B2	100.00	1
  TAB2	100.00	1
  TENT5A	100.00	1
  TFAP2B	100.00	1
  TREM2	100.00	1
  ACTB	100.00	1
  BBS9	99.96	1
  BMPER	100.00	1
  COL1A2	100.00	1
  CYP3A4	99.94	1
  DLX5	100.00	1
  DLX6	100.00	1
  DYNC2I1	96.68	1
  EZH2	99.98	1
  FAM20C	99.99	1
  FKBP14	99.95	1
  GLI3	100.00	1
  GUSB	100.00	1
  HOXA11	100.00	1
  HOXA13	96.84	1
  KDELR2	100.00	1
  LFNG	94.20	1
  LMBR1	99.96	1
  MCM7	100.00	1
  MET	100.00	1
  MNX1	87.84	1
  POR	100.00	1
  RINT1	99.95	1
  SBDS	100.00	1
  SFRP4	100.00	1
  SHH	100.00	1
  SLC4A2	100.00	1
  SMO	99.99	1
  SNX10	99.97	1
  TBXAS1	99.99	1
  TRPV6	99.41	1
  TWIST1	100.00	1
  ASAH1	99.99	1
  BMP1	100.00	1
  BPNT2	100.00	1
  CA2	100.00	1
  COLEC10	100.00	1
  CSGALNACT1	100.00	1
  CSPP1	99.99	1
  ESCO2	99.74	1
  EXT1	100.00	1
  EXTL3	100.00	1
  FGFR1	100.00	1
  GDF6	99.99	1
  HGSNAT	96.79	1
  NSMCE2	100.00	1
  POP1	100.00	1
  PTDSS1	100.00	1
  RAD21	100.00	1
  RECQL4	99.80	1
  RSPO2	100.00	1
  SLCO5A1	100.00	1
  SULF1	100.00	1
  TMEM67	99.30	1
  TNFRSF11B	100.00	1
  TONSL	100.00	1
  TRPS1	100.00	1
  ABL1	100.00	1
  ADAMTSL2	100.00	1
  COL27A1	100.00	1
  RIGI	99.97	1
  DYNC2I2	100.00	1
  HNRNPK	100.00	1
  IL11RA	100.00	1
  LMX1B	100.00	1
  MTAP	100.00	1
  NANS	100.00	1
  NOTCH1	100.00	1
  NPR2	100.00	1
  ROR2	99.98	1
  SLC34A3	100.00	1
  TGFBR1	100.00	1
  TMEM38B	100.00	1
  TRIM32	100.00	1
  VCP	100.00	1
  ZNF462	100.00	1
  AIFM1	100.00	1
  AMER1	100.00	1
  ARSL	100.00	1
  ATP7A	100.00	1
  BGN	100.00	1
  CCNQ	99.81	1
  CLCN5	100.00	1
  EBP	100.00	1
  EFNB1	100.00	1
  FANCB	100.00	1
  FGD1	100.00	1
  FGF16	100.00	1
  FLNA	100.00	1
  GPC3	100.00	1
  GPC4	100.00	1
  HDAC8	100.00	1
  IDS	100.00	1
  IKBKG	100.00	1
  MBTPS2	100.00	1
  MID1	100.00	1
  NSDHL	100.00	1
  OFD1	100.00	1
  PHEX	99.99	1
  PLS3	100.00	1
  PORCN	100.00	1
  SHOX	94.83	1
  SMC1A	100.00	1
  SMS	100.00	1
  TRAPPC2	100.00	1
  ZIC3	100.00	1

• Skeletal dysplasia - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCC9	99.92	1
  ABL1	100.00	1
  ACAN	91.51	1
  ACP5	100.00	1
  ACVR1	99.94	1
  ADAMTS10	99.99	1
  ADAMTS17	99.99	1
  ADAMTSL2	99.99	1
  AFF4	99.94	1
  AGA	99.92	1
  AGPS	98.83	1
  AHDC1	100.00	1
  AKT1	100.00	1
  ALG12	100.00	1
  ALG3	99.96	1
  ALG9	99.73	1
  ALPL	99.88	1
  ALX1	97.99	1
  ALX3	99.74	1
  ALX4	100.00	1
  AMER1	100.00	1
  ANAPC1	75.83	1
  ANKH	99.95	1
  ANKRD11	99.85	1
  ANO5	99.85	1
  ANTXR2	99.67	1
  ARHGAP31	100.00	1
  ARID1A	99.83	1
  ARID1B	99.69	1
  SLURP1	99.99	1
  ARSL	99.93	1
  ASXL1	100.00	1
  ASXL2	99.82	1
  ATP6V0A2	99.92	1
  B3GALT6	100.00	1
  B3GAT3	87.74	1
  B3GLCT	99.90	1
  B4GALT7	99.99	1
  B9D1	99.80	1
  BBS1	100.00	1
  BBS10	99.98	1
  BBS12	100.00	1
  BBS2	99.90	1
  BBS4	99.88	1
  BBS5	99.00	1
  BBS7	99.42	1
  BBS9	99.75	1
  BHLHA9	100.00	1
  BMP1	99.94	1
  BMP2	99.79	1
  BMPER	99.94	1
  BMPR1B	99.61	1
  BPNT2	100.00	1
  C2CD3	99.88	1
  CA2	99.62	1
  CANT1	100.00	1
  CASR	99.99	1
  CC2D2A	99.95	1
  CCDC134	100.00	1
  CCDC8	100.00	1
  CCN6	99.89	1
  CCNQ	99.98	1
  CD96	99.91	1
  CDC45	99.77	1
  CDC6	99.85	1
  CDH3	99.98	1
  CDKN1C	100.00	1
  CDT1	100.00	1
  CEP120	99.90	1
  CEP290	98.10	1
  CFAP410	100.00	1
  CHD7	99.99	1
  CHST14	100.00	1
  CHST3	100.00	1
  CHSY1	99.99	1
  CILK1	99.69	1
  CKAP2L	99.54	1
  CLCN5	99.67	1
  CLCN7	99.99	1
  COG1	100.00	1
  COG4	99.96	1
  COL10A1	100.00	1
  COL11A1	90.72	1
  COL11A2	99.99	1
  COL1A1	99.90	1
  COL1A2	99.34	1
  COL2A1	99.87	1
  COL9A1	99.91	1
  COL9A2	98.76	1
  COL9A3	99.99	1
  COLEC11	100.00	1
  COMP	100.00	1
  CPLANE1	99.81	1
  CREB3L1	99.88	1
  CREBBP	99.97	1
  CRTAP	99.98	1
  CSF1R	99.92	1
  CSGALNACT1	100.00	1
  CSPP1	98.31	1
  CTSA	99.98	1
  CTSC	99.97	1
  CTSK	99.31	1
  CUL7	100.00	1
  CYP27B1	99.98	1
  CYP2R1	99.96	1
  DCC	99.96	1
  DDR2	99.58	1
  RIGI	99.84	1
  DDX59	99.67	1
  DHCR24	99.93	1
  DHCR7	99.97	1
  DHODH	99.99	1
  DIP2C	100.00	1
  DLL3	100.00	1
  DLL4	100.00	1
  DLX3	99.98	1
  DLX5	99.98	1
  DLX6	99.82	1
  DMP1	99.99	1
  DNMT3A	100.00	1
  DOCK6	100.00	1
  DPAGT1	100.00	1
  DPM1	90.68	1
  DSPP	99.99	1
  DVL1	100.00	1
  DVL3	99.99	1
  DYM	99.96	1
  DYNC2H1	99.66	1
  DYNC2I1	99.99	1
  DYNC2I2	99.98	1
  DYNC2LI1	99.94	1
  DYNLT2B	100.00	1
  GLB1	100.00	1
  EDNRA	99.97	1
  EFNA4	99.92	1
  EFNB1	99.95	1
  EFTUD2	99.93	1
  EIF2AK3	97.43	1
  EIF4A3	99.99	1
  ENPP1	99.88	1
  EOGT	99.09	1
  EP300	99.97	1
  ERCC4	99.92	1
  ERF	99.98	1
  ESCO2	99.92	1
  EVC	99.95	1
  EVC2	99.97	1
  EXT1	99.94	1
  EXT2	99.98	1
  EXTL3	99.99	1
  EZH2	99.89	1
  FAM111A	100.00	1
  FAM20C	100.00	1
  FBLN1	98.69	1
  FBN1	99.85	1
  FBN2	99.90	1
  FBXW4	99.31	1
  FERMT3	99.99	1
  FGF10	99.95	1
  FGF16	99.60	1
  FGF23	100.00	1
  FGF3	99.97	1
  FGF4	100.00	1
  FGF8	100.00	1
  FGF9	100.00	1
  FGFR1	100.00	1
  FGFR2	99.99	1
  FGFR3	100.00	1
  FIG4	99.83	1
  FKBP10	99.98	1
  FLNA	99.99	1
  FLNB	99.98	1
  FMN1	99.98	1
  FREM1	99.98	1
  FUCA1	98.72	1
  FZD2	99.98	1
  GALNS	99.98	1
  GALNT3	99.52	1
  GDF3	100.00	1
  GDF5	100.00	1
  GDF6	100.00	1
  GFER	100.00	1
  GJA1	100.00	1
  GLI3	100.00	1
  GNAS	100.00	1
  GNPAT	99.78	1
  GNPNAT1	99.99	1
  GNPTAB	99.76	1
  GNPTG	100.00	1
  GNS	99.59	1
  GORAB	99.59	1
  GPC6	99.98	1
  GPX4	100.00	1
  GREM1	100.00	1
  GUSB	95.07	1
  GZF1	100.00	1
  HDAC4	99.98	1
  HDAC8	99.74	1
  HES7	100.00	1
  HGSNAT	99.93	1
  HNRNPK	99.93	1
  HOXA11	99.99	1
  HOXA13	99.94	1
  HOXD13	99.98	1
  HPGD	99.98	1
  HS2ST1	95.79	1
  HSPG2	99.87	1
  IDH1	99.91	1
  IDH2	100.00	1
  IDS	99.82	1
  IDUA	99.99	1
  IFIH1	99.84	1
  IFITM5	100.00	1
  IFT122	99.98	1
  IFT140	100.00	1
  IFT172	99.98	1
  IFT43	99.97	1
  IFT52	99.82	1
  IFT80	99.69	1
  IFT81	94.64	1
  IHH	100.00	1
  IKBKG	57.34	1
  IL11RA	99.98	1
  IL1RN	99.64	1
  INPPL1	99.97	1
  KAT6B	99.79	1
  KDELR2	99.98	1
  KIAA0753	100.00	1
  KIAA1217	99.99	1
  KIF22	99.89	1
  KIF7	100.00	1
  KMT2D	99.98	1
  LBR	99.66	1
  LEMD3	99.07	1
  LFNG	100.00	1
  LIFR	99.69	1
  LMBR1	99.88	1
  LMNA	99.96	1
  LMX1B	100.00	1
  LONP1	99.99	1
  LPIN2	100.00	1
  CORIN	99.89	1
  LRP5	99.95	1
  LTBP2	99.97	1
  MAFB	100.00	1
  MAN2B1	99.99	1
  MAN2C1	99.96	1
  MAP3K7	99.33	1
  MASP1	99.99	1
  MATN3	99.97	1
  MBTPS2	99.81	1
  MEGF8	99.90	1
  MEOX1	99.99	1
  MESP2	99.99	1
  MGP	99.95	1
  MIA2	99.72	1
  MIA3	99.84	1
  MKKS	100.00	1
  MKS1	99.92	1
  MMP13	99.96	1
  MMP2	99.96	1
  MMP9	100.00	1
  MNX1	99.83	1
  MPDU1	99.97	1
  MSX2	100.00	1
  MTX2	99.20	1
  MYCN	100.00	1
  MYL11	99.85	1
  NAGLU	100.00	1
  NANS	100.00	1
  NBAS	99.86	1
  NEK1	99.83	1
  NEU1	99.98	1
  NF1	99.88	1
  NFIX	99.99	1
  NIPBL	99.34	1
  NKX3-2	99.99	1
  NLRP3	100.00	1
  NOG	100.00	1
  NOTCH1	99.98	1
  NOTCH2	99.03	1
  NPPC	100.00	1
  NPRL2	99.99	1
  NSD1	99.98	1
  NSDHL	99.87	1
  NXN	99.92	1
  OBSL1	100.00	1
  OFD1	99.68	1
  SLC25A15	99.70	1
  ORC4	99.70	1
  ORC6	99.82	1
  OSTM1	99.56	1
  P3H1	99.89	1
  P4HB	99.99	1
  PAM16	100.00	1
  PAN2	99.95	1
  PAPSS2	99.91	1
  PAX3	100.00	1
  PCNT	99.97	1
  PCYT1A	100.00	1
  PDE3A	99.97	1
  PDE4D	99.89	1
  PEX5	99.89	1
  PEX7	99.72	1
  PGM3	99.94	1
  PHEX	99.83	1
  PHGDH	99.79	1
  PIGT	99.95	1
  PIGV	100.00	1
  PIK3C2A	99.92	1
  PIK3CA	99.74	1
  PISD	100.00	1
  PITX1	100.00	1
  PLEKHM1	99.77	1
  PLOD2	99.66	1
  PLS3	99.75	1
  POC1A	99.98	1
  POLR1A	99.93	1
  POLR1C	100.00	1
  POLR1D	100.00	1
  BVES	99.94	1
  PORCN	99.98	1
  PPIB	100.00	1
  PRKAR1A	100.00	1
  PRKG2	99.75	1
  PRMT7	99.95	1
  PSAT1	99.98	1
  PSPH	99.09	1
  PTDSS1	99.95	1
  PTH1R	99.93	1
  PTHLH	99.89	1
  PTPN11	99.98	1
  PUF60	100.00	1
  PYCR1	99.99	1
  RAB23	99.97	1
  RAB33B	100.00	1
  RAD21	99.91	1
  RASGRP2	100.00	1
  RBM8A	99.37	1
  RBPJ	99.96	1
  RECQL4	100.00	1
  RFT1	99.79	1
  RIN1	100.00	1
  RNU4ATAC	99.95	1
  ROR2	99.99	1
  RPGRIP1L	96.35	1
  RPL13	99.96	1
  RUNX2	100.00	1
  SALL1	100.00	1
  SALL4	100.00	1
  SBDS	99.93	1
  SCARF2	99.94	1
  SCUBE3	99.96	1
  SEC24D	99.94	1
  SERPINF1	100.00	1
  SERPINH1	100.00	1
  SETD2	99.91	1
  SF3B4	99.65	1
  SFRP4	99.99	1
  SGSH	100.00	1
  SH3BP2	100.00	1
  SH3PXD2B	100.00	1
  SHH	100.00	1
  SHOX	92.70	1
  HHAT	99.98	1
  SLC10A7	99.95	1
  SLC17A5	99.71	1
  SLC26A2	100.00	1
  SLC29A3	99.98	1
  SLC34A1	99.99	1
  SLC34A3	100.00	1
  SLC35C1	100.00	1
  SLC35D1	87.50	1
  SLC39A13	99.98	1
  SLCO2A1	99.99	1
  SLCO5A1	99.98	1
  SMAD3	99.99	1
  SMAD4	99.97	1
  SMARCAL1	99.97	1
  SMC1A	99.98	1
  SMC3	99.91	1
  SMO	99.99	1
  SMOC1	100.00	1
  SNRPB	99.96	1
  SNX10	99.96	1
  SOST	100.00	1
  SOX9	100.00	1
  SP7	100.00	1
  SPARC	99.94	1
  SUCO	98.05	1
  SULF1	99.99	1
  SUMF1	99.95	1
  TALDO1	100.00	1
  TAPT1	99.64	1
  TBCE	99.91	1
  TBX15	99.81	1
  TBX3	100.00	1
  TBX4	99.96	1
  TBX5	99.98	1
  TBX6	99.99	1
  TBXAS1	100.00	1
  TCF12	99.97	1
  TCIRG1	99.99	1
  TCOF1	99.99	1
  TCTN2	99.99	1
  TCTN3	99.92	1
  TENT5A	99.97	1
  TERT	100.00	1
  TGFB1	100.00	1
  TGFB2	99.87	1
  TGFBR1	99.94	1
  TGFBR2	99.98	1
  THPO	100.00	1
  TMEM165	99.97	1
  TMEM216	99.98	1
  TMEM231	88.88	1
  TMEM38B	99.95	1
  TMEM67	99.69	1
  TNFRSF11A	100.00	1
  TNFRSF11B	100.00	1
  TNFSF11	99.89	1
  TONSL	100.00	1
  TP63	99.97	1
  TRAPPC2	99.41	1
  TREM2	100.00	1
  TRIP11	99.90	1
  TRPS1	100.00	1
  TRPV4	100.00	1
  TRPV6	99.99	1
  TTC21B	99.50	1
  TTC8	99.67	1
  TWIST1	100.00	1
  TYROBP	99.95	1
  VDR	99.86	1
  VPS35L	99.07	1
  WDPCP	99.87	1
  WDR19	99.80	1
  WDR35	99.92	1
  WNT1	99.97	1
  WNT10B	99.97	1
  WNT3	99.99	1
  WNT3A	100.00	1
  WNT5A	100.00	1
  WNT7A	99.99	1
  XRCC4	99.89	1
  XYLT1	99.98	1
  XYLT2	99.97	1
  ZMPSTE24	98.70	1
  ZSWIM6	98.94	1