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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

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CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

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Genes:
ABCG1, ADAMTS1, ADAMTS5, ADARB1, AF165138.7, AIRE, AP001468.1, ATP5O, B3GALT5, BACE2, BACH1, BRWD1, C21orf128, C21orf140, C21orf2, C21orf33, C21orf49, C21orf58, C21orf62, C21orf67, C21orf88, C21orf91, C2CD2, CBR1, CBR3, CBS, CLDN14, CLDN8, CLIC6, COL18A1, COL6A1, COL6A2, CRYAA, CRYZL1, CYYR1, DIP2A, DNAJC28, DOPEY2, DSCR4, ETS2, EVA1C, FAM3B, FTCD, GART, GRIK1, HUNK, ICOSLG, IFNAR1, IFNAR2, IGHV1OR21-1, IGSF5, IL10RB, ITGB2, ITSN1, KCNE1, KCNJ15, KCNJ6, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP11-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-1, KRTAP19-4, KRTAP19-6, KRTAP22-1, KRTAP24-1, KRTAP25-1, KRTAP6-3, LCA5L, LIPI, LRRC3, LSS, LTN1, MCM3AP, MRPL39, MX1, N6AMT1, NCAM2, NDUFV3, NRIP1, OLIG2, PCBP3, PCNT, PCP4, PDE9A, PDXK, PFKL, PIGP, POFUT2, PRDM15, PRMT2, PSMG1, PTTG1IP, PWP2, RBM11, RCAN1, RIPK4, RRP1, RRP1B, RSPH1, RWDD2B, S100B, SAMSN1, SCAF4, SETD4, SH3BGR, SIK1, SLC19A1, SLC37A1, SLC5A3, SON, SPATC1L, SUMO3, SYNJ1, TCP10L, TIAM1, TMPRSS15, TMPRSS2, TMPRSS3, TPTE, TRAPPC10, TRPM2, TTC3, UBASH3A, UMODL1, URB1, USP16, USP25, WDR4, ZBTB21,

+ Genes associated with diseases 27

Genes at Omim

AIRE, CBS, CLDN14, COL18A1, COL6A1, COL6A2, CRYAA, FTCD, IFNAR2, ITGB2, KCNE1, KCNJ6, LIPI, LSS, MCM3AP, NRIP1, PCNT, PFKL, PIGP, RIPK4, RSPH1, SIK1, SON, SYNJ1, TMPRSS15, TMPRSS3, WDR4,

AIRE	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)
CBS	Homocystinuria, B6-responsive and nonresponsive types, 236200 (3) Thrombosis, hyperhomocysteinemic, 236200 (3)
CLDN14	Deafness, autosomal recessive 29, 614035 (3)
COL18A1	Knobloch syndrome, type 1, 267750 (3)
COL6A1	Bethlem myopathy 1, 158810 (3) Ullrich congenital muscular dystrophy 1, 254090 (3)
COL6A2	Bethlem myopathy 1, 158810 (3) Ullrich congenital muscular dystrophy 1, 254090 (3) ?Myosclerosis, congenital, 255600 (3)
CRYAA	Cataract 9, multiple types, 604219 (3)
FTCD	Glutamate formiminotransferase deficiency, 229100 (3)
IFNAR2	{Hepatitis B virus, susceptibility to}, 610424 (3) ?Immunodeficiency 45, 616669 (3)
ITGB2	Leukocyte adhesion deficiency, 116920 (3)
KCNE1	Jervell and Lange-Nielsen syndrome 2, 612347 (3) Long QT syndrome 5, 613695 (3)
KCNJ6	Keppen-Lubinsky syndrome, 614098 (3)
LIPI	{Hypertriglyceridemia, susceptibility to}, 145750 (3)
LSS	Cataract 44, 616509 (3) Hypotrichosis 14, 618275 (3)
MCM3AP	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 (3)
NRIP1	?Congenital anomalies of kidney and urinary tract 3, 618270 (3)
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
PFKL	Hemolytic anemia due to phosphofructokinase deficiency (1)
PIGP	?Epileptic encephalopathy, early infantile, 55, 617599 (3)
RIPK4	CHAND syndrome, 214350 (3) Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3)
RSPH1	Ciliary dyskinesia, primary, 24, 615481 (3)
SIK1	Epileptic encephalopathy, early infantile, 30, 616341 (3)
SON	ZTTK syndrome, 617140 (3)
SYNJ1	Epileptic encephalopathy, early infantile, 53, 617389 (3) Parkinson disease 20, early-onset, 615530 (3)
TMPRSS15	Enterokinase deficiency, 226200 (3)
TMPRSS3	Deafness, autosomal recessive 8/10, 601072 (3)
WDR4	Galloway-Mowat syndrome 6, 618347 (3) Microcephaly, growth deficiency, seizures, and brain malformations, 618346 (3)

Genes at Clinical Genomics Database

AIRE, CBS, CLDN14, COL18A1, COL6A1, COL6A2, CRYAA, FTCD, IFNAR2, IL10RB, ITGB2, KCNE1, KCNJ6, LIPI, LSS, NRIP1, PCNT, RIPK4, RSPH1, SIK1, TMPRSS15, TMPRSS3,

AIRE	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
CBS	Homocystinuria due to cystathionine beta-synthase deficiency
CLDN14	Deafness, autosomal recessive 29
COL18A1	Knobloch syndrome 1
COL6A1	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
COL6A2	Ullrich congenital muscular dystrophy 1 Myosclerosis, congenital Bethlem myopathy 1 Epilepsy, progressive myoclonic, autosomal recessive
CRYAA	Cataract 9, multiple types
FTCD	Glutamate formiminotransferase deficiency
IFNAR2	Immunodeficiency 45
IL10RB	Inflammatory bowel disease 25, early onset, autosomal recessive
ITGB2	Leukocyte adhesion deficiency, type I
KCNE1	Long QT syndrome 5 Jervell and Lange-Nielsen syndrome 2
KCNJ6	Keppen-Lubinsky syndrome
LIPI	Hypertriglyceridemia, familial
LSS	Cataract 44
NRIP1	Schizophrenia
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II
RIPK4	Popliteal pterygium syndrome, lethal type Bartsocas-Papas syndrome
RSPH1	Ciliary dyskinesia, primary, 24
SIK1	Epileptic encephalopathy, early infantile 30
TMPRSS15	Enterokinase deficiency
TMPRSS3	Deafness, autosomal recessive 10 Deafness, autosomal recessive 8

Genes at HGMD

Summary

Number of Variants: 659
Number of Genes: 140

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Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	46651510241455_annotated	21	.	14757095	2964.73	G	GT	PASS	0/1	246	None	None	None	0.05591						None None	None None None None	None
RWDD2B
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	46651510241455_annotated	21	.	30380727	1474.77	C	T	PASS	0/1	146	NON_SYNONYMOUS_CODING	MODERATE	None				0.59	0.01		None None	None None None None	RWDD2B\|0.047969029\|63.33%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	46651510241455_annotated	21	.	38593578	2642.77	G	A	PASS	0/1	236	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	.	31913899	1042.77	A	G	PASS	0/1	103	None	None	None							None None	None None None None	KRTAP19-6\|0.002299977\|90.16%
	View	46651510241455_annotated	21	.	10793946	981.73	C	CG...	PASS	0/1	286	None	None	None							None None	None None None None	None
RBM11
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	46651510241455_annotated	21	.	15591909	1005.77	T	C	PASS	0/1	85	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.67		None None	None None None None	RBM11\|0.04162985\|65.26%
CBR1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	46651510241455_annotated	21	rs1005696 dbSNP Clinvar	37443480	1069.77	T	G	PASS	0/1	99	None	None	None	0.59685	0.59680		0.71	0.00		None None	None None None None	SETD4\|0.031167746\|68.91%,CBR1\|0.018056419\|75.24%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	46651510241455_annotated	21	rs1006887 dbSNP Clinvar	46685592	451.77	C	G	PASS	0/1	24	None	None	None	0.74561	0.74560	0.35492				None None	None None None None	POFUT2\|0.013575894\|78.14%
	View	46651510241455_annotated	21	rs10222086 dbSNP Clinvar	33738920	491.77	G	C	PASS	0/1	58	None	None	None	0.13638	0.13640	0.16470				None None	None None None None	URB1\|0.0146609\|77.4%
KRTAP19-6
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	46651510241455_annotated	21	rs1023364 dbSNP Clinvar	31914000	9041.77	T	A	PASS	1/1	209	SYNONYMOUS_CODING	LOW	None	0.74780	0.74780	0.26565				None None	None None None None	KRTAP19-6\|0.002299977\|90.16%
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	46651510241455_annotated	21	rs1032177786,rs1052766 dbSNP Clinvar	9907397	9237.77	C	T	PASS	0/1	291	None	None	None							None None	None None None None	None
BRWD1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	46651510241455_annotated	21	rs1041439 dbSNP Clinvar	40571246	2144.77	A	G	PASS	0/1	128	NON_SYNONYMOUS_CODING	MODERATE	None	0.85284	0.85280	0.05336	0.52	0.00		None None	None None None None	BRWD1\|0.163713366\|41.06%
COL6A2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	46651510241455_annotated	21	rs1042917 dbSNP Clinvar	47545768	4179.77	G	A	PASS	0/1	368	NON_SYNONYMOUS_CODING	MODERATE	None	0.39397	0.39400	0.41296	0.10	0.99		None None	None None None None	COL6A2\|0.07894144\|55.42%
Omim - GeneCards - NCBI