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

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Genes:
ADAMTS1, ADAMTS5, ADARB1, AF165138.7, AIRE, AP001631.10, ATP5O, B3GALT5, BACE2, BACH1, BRWD1, C21orf128, C21orf33, C21orf62, C21orf88, C21orf91, C2CD2, CBR1, CBR3, CBS, CHAF1B, CLDN8, CLIC6, COL18A1, CRYAA, CYYR1, DIP2A, DOPEY2, DSCAM, DSCR4, ETS2, FAM3B, FTCD, GART, HUNK, ICOSLG, IFNAR2, IGHV1OR21-1, IGSF5, IL10RB, ITGB2, ITSN1, KCNE1, KCNJ15, KCNJ6, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, KRTAP13-2, KRTAP13-4, KRTAP15-1, KRTAP19-2, KRTAP19-4, KRTAP19-6, KRTAP19-7, KRTAP22-1, KRTAP24-1, KRTAP25-1, KRTAP6-1, KRTAP6-3, LIPI, LSS, LTN1, MCM3AP, MRPL39, MX1, N6AMT1, NCAM2, NDUFV3, NRIP1, OLIG1, OLIG2, PCBP3, PCNT, PCP4, PDE9A, PDXK, PFKL, PIGP, PKNOX1, POFUT2, PRDM15, PRMT2, PSMG1, PTTG1IP, PWP2, RBM11, RCAN1, RIPK4, RRP1, RRP1B, RUNX1, S100B, SAMSN1, SCAF4, SETD4, SH3BGR, SIK1, SIM2, SLC19A1, SLC37A1, SLC5A3, SMIM11, SON, SUMO3, TIAM1, TMPRSS15, TMPRSS2, TPTE, TRPM2, TSPEAR, TTC3, UBASH3A, UMODL1, URB1, USP16, WDR4, ZBTB21,

+ Genes associated with diseases 23

Genes at Omim

AIRE, CBS, COL18A1, CRYAA, FTCD, IFNAR2, ITGB2, KCNE1, KCNJ6, LIPI, LSS, MCM3AP, NRIP1, PCNT, PFKL, PIGP, RIPK4, RUNX1, SIK1, SON, TMPRSS15, TSPEAR, 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)
COL18A1	Knobloch syndrome, type 1, 267750 (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)
RUNX1	Leukemia, acute myeloid, 601626 (3) Platelet disorder, familial, with associated myeloid malignancy, 601399 (3)
SIK1	Epileptic encephalopathy, early infantile, 30, 616341 (3)
SON	ZTTK syndrome, 617140 (3)
TMPRSS15	Enterokinase deficiency, 226200 (3)
TSPEAR	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180 (3) ?Deafness, autosomal recessive 98, 614861 (3)
WDR4	Galloway-Mowat syndrome 6, 618347 (3) Microcephaly, growth deficiency, seizures, and brain malformations, 618346 (3)

Genes at Clinical Genomics Database

AIRE, CBS, COL18A1, CRYAA, FTCD, IFNAR2, IL10RB, ITGB2, KCNE1, KCNJ6, LIPI, LSS, NRIP1, PCNT, RIPK4, RUNX1, SIK1, TMPRSS15, TSPEAR,

AIRE	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
CBS	Homocystinuria due to cystathionine beta-synthase deficiency
COL18A1	Knobloch syndrome 1
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
RUNX1	Platelet disorder, familial, with associated myeloid malignancy
SIK1	Epileptic encephalopathy, early infantile 30
TMPRSS15	Enterokinase deficiency
TSPEAR	Deafness, autosomal recessive 98

Genes at HGMD

Summary

Number of Variants: 1623
Number of Genes: 131

Export to: CSV

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ADAMTS1
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	paolo_maccallini_snp	21	rs56251528 dbSNP Clinvar	28210854	6257.77	C	T	PASS	0/1	508	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.04992	0.04992	0.04513	0.30	0.01		None None	None None None None	ADAMTS1\|0.304173311\|27.34%
ADAMTS5
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	paolo_maccallini_snp	21	rs226794 dbSNP Clinvar	28302355	16499.8	A	G	PASS	1/1	512	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.80970	0.80970	0.08527	1.00	0.00		None None	None None None None	ADAMTS5\|0.324991256\|25.8%
ADARB1
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	paolo_maccallini_snp	21	.	46595754	3150.77	T	A	PASS	0/1	181	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ADARB1\|0.037848146\|66.51%
	View	paolo_maccallini_snp	21	rs1051367 dbSNP Clinvar	46641968	4227.77	G	A	PASS	0/1	337	SYNONYMOUS_CODING	LOW	SILENT	0.49401	0.49400	0.49692				None None	None None None None	ADARB1\|0.037848146\|66.51%
AF165138.7
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	paolo_maccallini_snp	21	rs456067 dbSNP Clinvar	15974409	3117.77	T	C	PASS	1/1	87	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	1.00000	1.00000		1.00	0.00		None None	None None None None	None
AIRE
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	paolo_maccallini_snp	21	rs1028887337 dbSNP Clinvar	45705955	535.77	G	T	PASS	0/1	41	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	AIRE\|0.006628229\|83.92%
AP001631.10
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	paolo_maccallini_snp	21	rs56218428 dbSNP Clinvar	44579848	1632.77	G	A	PASS	0/1	146	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.10004	0.10000		0.00	0.69		None None	None None None None	None
ATP5O
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	paolo_maccallini_snp	21	rs9980730 dbSNP Clinvar	35275955	1918.77	G	A	PASS	1/1	60	None	None	None	0.99101	0.99100	0.02237				None None	None None None None	ATP5O\|0.055947808\|60.93%
	View	paolo_maccallini_snp	21	rs4591 dbSNP Clinvar	35281393	4202.77	A	G	PASS	1/1	132	SYNONYMOUS_CODING	LOW	SILENT	0.70208	0.70210	0.29940				None None	None None None None	ATP5O\|0.055947808\|60.93%
B3GALT5
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	paolo_maccallini_snp	21	rs734412 dbSNP Clinvar	41033062	5134.77	G	A	PASS	0/1	351	SYNONYMOUS_CODING	LOW	SILENT	0.02117	0.02117	0.06166				None None	None None None None	B3GALT5\|0.004441095\|86.45%
	View	paolo_maccallini_snp	21	rs3746887 dbSNP Clinvar	41032740	3228.29	T	C	PASS	0/1	242	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.65336	0.65340	0.31493	1.00	0.00		None None	None None None None	B3GALT5\|0.004441095\|86.45%
	View	paolo_maccallini_snp	21	rs734413 dbSNP Clinvar	41032804	4445.77	G	A	PASS	0/1	305	SYNONYMOUS_CODING	LOW	SILENT	0.62939	0.62940	0.33746				None None	None None None None	B3GALT5\|0.004441095\|86.45%
BACE2
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	paolo_maccallini_snp	21	rs1046210 dbSNP Clinvar	42622786	5415.77	C	T	PASS	0/1	420	SYNONYMOUS_CODING	LOW	SILENT	0.41893	0.41890	0.30132				None None	None None None None	BACE2\|0.031049204\|68.94%