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

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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

Export to: CSV

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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	rs372061766 dbSNP Clinvar	9825838	42.73	T	TGTG	PASS	0/1	10	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs186602 dbSNP Clinvar	9826301	19350.77	T	C	PASS	1/1	643	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs1052822 dbSNP Clinvar	9907222	2361.77	T	C	SNP_QC	0/1	132	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs707019 dbSNP Clinvar	9907271	7044.77	A	G	PASS	0/1	371	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs3694 dbSNP Clinvar	9907345	10258.77	C	T	PASS	0/1	511	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs711877 dbSNP Clinvar	9907375	11824.77	T	C	PASS	0/1	411	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs711876 dbSNP Clinvar	9907384	11064.77	G	A	PASS	0/1	345	None	None	None							None None	None None None None	None
	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
	View	46651510241455_annotated	21	rs3887623 dbSNP Clinvar	9907416	6348.77	C	T	SNP_QC	0/1	214	None	None	None	0.48582	0.48580					None None	None None None None	None
	View	46651510241455_annotated	21	rs200167075 dbSNP Clinvar	10793885	1300.77	A	T	PASS	0/1	342	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs28490105 dbSNP Clinvar	10793891	7431.77	T	G	PASS	0/1	366	None	None	None	0.61661	0.61660					None None	None None None None	None
	View	46651510241455_annotated	21	rs146787155 dbSNP Clinvar	10793906	1649.77	G	C	PASS	0/1	387	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs111212586 dbSNP Clinvar	10793912	1488.77	A	G	PASS	0/1	397	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs28641787 dbSNP Clinvar	10793925	1232.77	T	A	PASS	0/1	387	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	.	10793946	981.73	C	CG...	PASS	0/1	286	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs772462055 dbSNP Clinvar	10793961	3933.73	T	TG...	PASS	0/1	185	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs3883945 dbSNP Clinvar	10862599	4866.77	C	T	PASS	0/1	210	None	None	None	0.54952	0.54950					None None	None None None None	None
	View	46651510241455_annotated	21	rs3916251 dbSNP Clinvar	10862618	5636.77	T	C	PASS	0/1	253	None	None	None	0.63538	0.63540					None None	None None None None	None
IGHV1OR21-1
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	rs3916645 dbSNP Clinvar	10862846	13218.77	A	T	PASS	1/1	356	NON_SYNONYMOUS_CODING	MODERATE	None	0.87320	0.87320	0.06054	1.00	0.00		None None	None None None None	None
	View	46651510241455_annotated	21	rs1961808 dbSNP Clinvar	10862853	3055.77	G	A	PASS	0/1	394	NON_SYNONYMOUS_CODING	MODERATE	None			0.39015	0.18	0.00		None None	None None None None	None
	View	46651510241455_annotated	21	rs1807747 dbSNP Clinvar	10862874	10703.77	A	G	PASS	0/1	508	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00		None None	None None None None	None
	View	46651510241455_annotated	21	rs3883944 dbSNP Clinvar	10862947	12624.77	G	A	PASS	0/1	765	SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
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	rs28521368 dbSNP Clinvar	10863087	13554.77	T	G	PASS	1/1	439	None	None	None	0.87560	0.87560	0.05069				None None	None None None None	None
TPTE
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	rs144623440 dbSNP Clinvar	10906910	190.77	C	T	SNP_QC	0/1	402	NON_SYNONYMOUS_CODING	MODERATE	None			0.00131	0.00	0.10		None None	None None None None	TPTE\|0.001635216\|92.18%
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	rs150480 dbSNP Clinvar	10910291	5456.77	C	T	SNP_QC	0/1	405	None	None	None							None None	None None None None	TPTE\|0.001635216\|92.18%
TPTE
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	rs9996 dbSNP Clinvar	10910311	7554.77	T	G	PASS	0/1	531	NON_SYNONYMOUS_CODING	MODERATE	None	0.61122	0.61120		1.00	0.00		None None	None None None None	TPTE\|0.001635216\|92.18%
	View	46651510241455_annotated	21	rs62211191 dbSNP Clinvar	10910340	2108.77	C	G	PASS	0/1	657	SYNONYMOUS_CODING	LOW	None							None None	None None None None	TPTE\|0.001635216\|92.18%
	View	46651510241455_annotated	21	rs150482 dbSNP Clinvar	10910347	14699.77	A	G	PASS	0/1	657	NON_SYNONYMOUS_CODING	MODERATE	None	0.82867	0.82870		1.00	0.00		None None	None None None None	TPTE\|0.001635216\|92.18%
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	rs210506 dbSNP Clinvar	10916322	697.77	G	A	PASS	0/1	123	None	None	None							None None	None None None None	TPTE\|0.001635216\|92.18%
	View	46651510241455_annotated	21	rs4913553 dbSNP Clinvar	10920041	659.77	C	T	PASS	0/1	71	None	None	None							None None	None None None None	TPTE\|0.001635216\|92.18%
	View	46651510241455_annotated	21	rs4913681 dbSNP Clinvar	10920067	636.77	T	C	PASS	0/1	65	None	None	None							None None	None None None None	TPTE\|0.001635216\|92.18%
TPTE
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	rs212146 dbSNP Clinvar	10920098	1347.77	T	C	PASS	1/1	44	NON_SYNONYMOUS_CODING	MODERATE	None	1.00000	1.00000		1.00	0.00		None None	None None None None	TPTE\|0.001635216\|92.18%
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	rs6582917 dbSNP Clinvar	10935004	1688.77	A	T	PASS	0/1	318	None	None	None							None None	None None None None	TPTE\|0.001635216\|92.18%
	View	46651510241455_annotated	21	rs2019999 dbSNP Clinvar	10942036	400.77	T	A	PASS	0/1	31	None	None	None							None None	None None None None	TPTE\|0.001635216\|92.18%
TPTE
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	rs1810540 dbSNP Clinvar	10942756	3800.77	G	A	PASS	0/1	683	STOP_GAINED	HIGH	None							None None	None None None None	TPTE\|0.001635216\|92.18%
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	rs34027183 dbSNP Clinvar	10959811	1585.73	CA	C	PASS	0/1	111	None	None	None	0.13618	0.13620					None None	None None None None	TPTE\|0.001635216\|92.18%
	View	46651510241455_annotated	21	rs10433074 dbSNP Clinvar	11038722	2315.77	C	A	PASS	0/1	98	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs738586 dbSNP Clinvar	11038796	1046.77	T	C	PASS	0/1	333	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs932840 dbSNP Clinvar	11038802	250.77	G	A	SNP_QC	0/1	329	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs10433076 dbSNP Clinvar	11038843	3278.77	G	C	PASS	0/1	341	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs599327 dbSNP Clinvar	11038868	5221.77	C	T	SNP_QC	0/1	431	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs28473122 dbSNP Clinvar	11038909	1507.77	G	T	PASS	0/1	678	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs10433077 dbSNP Clinvar	11038957	874.77	T	C	SNP_QC	0/1	901	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs28369127 dbSNP Clinvar	11039033	1362.77	G	A	SNP_QC	0/1	988	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs3888469 dbSNP Clinvar	11039079	1420.77	C	A	SNP_QC	0/1	813	None	None	None	0.03654	0.23780					None None	None None None None	None
	View	46651510241455_annotated	21	rs7280925 dbSNP Clinvar	11049503	1036.77	T	A	SNP_QC	0/1	92	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs468629 dbSNP Clinvar	11049516	2856.77	G	A	SNP_QC	1/1	93	None	None	None	0.00319	0.81150					None None	None None None None	None
	View	46651510241455_annotated	21	rs28441174 dbSNP Clinvar	11049621	366.77	G	A	SNP_QC	0/1	437	None	None	None	0.09385	0.09385					None None	None None None None	None
	View	46651510241455_annotated	21	rs28537865 dbSNP Clinvar	11049623	366.77	T	C	SNP_QC	0/1	428	None	None	None	0.09385	0.09385					None None	None None None None	None
	View	46651510241455_annotated	21	rs4913558 dbSNP Clinvar	11058226	2031.77	G	C	PASS	0/1	402	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs2775343 dbSNP Clinvar	11058227	2710.77	T	A	SNP_QC	0/1	417	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs2775344 dbSNP Clinvar	11058229	2741.77	T	C	SNP_QC	0/1	419	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs77547988 dbSNP Clinvar	11059841	80.77	C	T	PASS	0/1	16	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs752963406 dbSNP Clinvar	11059846	49.77	G	A	PASS	0/1	19	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs7279599 dbSNP Clinvar	11059852	62.77	G	A	PASS	0/1	23	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs75278999 dbSNP Clinvar	11059853	171.77	C	T	PASS	0/1	22	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs75079963 dbSNP Clinvar	11059854	326.77	A	G	PASS	0/1	22	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs7364059 dbSNP Clinvar	11059877	182.77	T	C	PASS	0/1	21	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs1752238 dbSNP Clinvar	11098674	1579.78	T	C	PASS	0/1	60	None	None	None	0.99581	0.99580	0.00497				None None	None None None None	None
	View	46651510241455_annotated	21	rs73151874 dbSNP Clinvar	11098723	121.77	T	C	PASS	0/1	59	None	None	None	0.07109	0.07109					None None	None None None None	None
	View	46651510241455_annotated	21	rs113315187 dbSNP Clinvar	11098728	127.77	C	T	PASS	0/1	56	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs2792526 dbSNP Clinvar	14756794	645.77	G	A	PASS	0/1	56	None	None	None	0.29693	0.29690					None None	None None None None	None
	View	46651510241455_annotated	21	rs2821831 dbSNP Clinvar	14756973	1206.77	T	A	SNP_QC	0/1	86	None	None	None	0.30272	0.30270					None None	None None None None	None
	View	46651510241455_annotated	21	rs2257596 dbSNP Clinvar	14757043	1987.77	T	C	SNP_QC	0/1	189	None	None	None	0.64058	0.64060					None None	None None None None	None
	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
	View	46651510241455_annotated	21	rs2775777 dbSNP Clinvar	14760151	774.77	T	C	PASS	1/1	26	None	None	None	0.96286	0.96290					None None	None None None None	None
	View	46651510241455_annotated	21	rs2775779 dbSNP Clinvar	14760203	211.77	C	T	PASS	0/1	36	None	None	None	0.29693	0.29690					None None	None None None None	None
	View	46651510241455_annotated	21	rs2775805 dbSNP Clinvar	14766093	243.77	G	A	PASS	1/1	11	None	None	None	0.91733	0.91730					None None	None None None None	None
	View	46651510241455_annotated	21	rs758724938 dbSNP Clinvar	14771323	354.73	TTC	T	PASS	0/1	29	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs143695938 dbSNP Clinvar	14771327	1028.73	TC	T,...	PASS	1/2	29	None	None	None							None None	None None None None	None
	View	46651510241455_annotated	21	rs2747231 dbSNP Clinvar	14778811	67.28	C	T	SNP_QC	1/1	3	None	None	None	0.98103	0.98100					None None	None None None None	None
	View	46651510241455_annotated	21	rs55885097 dbSNP Clinvar	14917181	2498.77	C	T	SNP_QC	0/1	189	None	None	None	0.25399	0.25400					None None	None None None None	None
	View	46651510241455_annotated	21	rs1297087 dbSNP Clinvar	15373420	4667.77	C	A	PASS	1/1	144	None	None	None	0.93470	0.93470					None None	None None None None	None
	View	46651510241455_annotated	21	rs2298673 dbSNP Clinvar	15399864	463.77	T	C	PASS	0/1	35	None	None	None	0.25519	0.25520					None None	None None None None	None
	View	46651510241455_annotated	21	rs7279700 dbSNP Clinvar	15481234	474.77	C	T	PASS	0/1	46	None	None	None	0.51917	0.51920					None None	None None None None	LIPI\|0.027450364\|70.67%
LIPI
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	rs7278737 dbSNP Clinvar	15481365	549.77	G	T	PASS	0/1	61	NON_SYNONYMOUS_CODING	MODERATE	None	0.51897	0.51900	0.49892	1.00	0.00		None None	None None None None	LIPI\|0.027450364\|70.67%
	View	46651510241455_annotated	21	rs7283442 dbSNP Clinvar	15516976	1525.77	T	A	PASS	1/1	50	NON_SYNONYMOUS_CODING	MODERATE	None	1.00000	1.00000		0.20	0.00		None None	None None None None	LIPI\|0.027450364\|70.67%
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	rs57726121 dbSNP Clinvar	15524843	139.9	A	G	PASS	1/1	5	None	None	None	0.42832	0.42830	0.34414				None None	None None None None	LIPI\|0.027450364\|70.67%
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%
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	rs378280 dbSNP Clinvar	15593495	214.77	T	G	PASS	0/1	17	None	None	None	0.23143	0.23140	0.25000				None None	None None None None	RBM11\|0.04162985\|65.26%
	View	46651510241455_annotated	21	rs379724 dbSNP Clinvar	15596683	33.77	G	A	PASS	0/1	3	None	None	None	0.16234	0.16230					None None	None None None None	RBM11\|0.04162985\|65.26%
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	rs409782 dbSNP Clinvar	15596772	439.77	T	G	PASS	1/1	16	NON_SYNONYMOUS_CODING	MODERATE	None	0.75579	0.75580	0.20188	0.72	0.00		None None	None None None None	RBM11\|0.04162985\|65.26%
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	rs2236001 dbSNP Clinvar	15646405	83.77	C	A	PASS	0/1	9	None	None	None	0.14657	0.14660					None None	None None None None	None
	View	46651510241455_annotated	21	rs28413131 dbSNP Clinvar	15646553	687.77	G	C	PASS	0/1	67	None	None	None	0.14916	0.14920					None None	None None None None	None
	View	46651510241455_annotated	21	rs2254297 dbSNP Clinvar	15652069	37.77	A	G	PASS	0/1	11	None	None	None	0.40096	0.40100					None None	None None None None	None
	View	46651510241455_annotated	21	rs7281846 dbSNP Clinvar	15755349	1635.77	T	C	PASS	1/1	56	None	None	None	0.53794	0.53790	0.39422				None None	None None None None	HSPA13\|0.247029422\|31.82%
	View	46651510241455_annotated	21	rs760344 dbSNP Clinvar	15893567	314.77	A	T	PASS	1/1	10	None	None	None	0.20088	0.20090	0.18557				None None	None None None None	SAMSN1\|0.290908658\|28.32%
	View	46651510241455_annotated	21	rs760345 dbSNP Clinvar	15893594	162.9	T	C	PASS	1/1	5	None	None	None	0.47863	0.47860	0.45951				None None	None None None None	SAMSN1\|0.290908658\|28.32%
SAMSN1
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	rs7281104 dbSNP Clinvar	15918577	531.77	G	C	PASS	0/1	77	None	None	None	0.30351	0.30350	0.27575				None None	None None None None	SAMSN1\|0.290908658\|28.32%
	View	46651510241455_annotated	21	rs2822787 dbSNP Clinvar	15954660	4722.77	T	C	PASS	0/1	326	NON_SYNONYMOUS_CODING	MODERATE	None	0.73502	0.73500		0.63	0.00		None None	None None None None	SAMSN1\|0.290908658\|28.32%
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	rs466913 dbSNP Clinvar	15964920	1251.77	C	G	PASS	1/1	37	None	None	None	0.74161	0.74160					None None	None None None None	None
	View	46651510241455_annotated	21	rs460852 dbSNP Clinvar	15966421	672.77	T	A	PASS	1/1	20	None	None	None	0.72185	0.72180					None None	None None None None	None
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	46651510241455_annotated	21	rs456067 dbSNP Clinvar	15974409	525.77	T	C	SNP_QC	1/1	14	NON_SYNONYMOUS_CODING	MODERATE	None	1.00000	1.00000		1.00	0.00		None None	None None None None	None
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	rs1292581 dbSNP Clinvar	15984864	583.77	G	T	PASS	0/1	50	None	None	None	0.14657	0.14660					None None	None None None None	None
NRIP1
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	rs143638809 dbSNP Clinvar	16337602	1760.77	T	C	PASS	0/1	152	NON_SYNONYMOUS_CODING	MODERATE	None	0.00040	0.00040		0.57	0.01		None None	None None None None	NRIP1\|0.321174489\|26.06%
	View	46651510241455_annotated	21	rs2228507 dbSNP Clinvar	16339570	6001.77	T	A	PASS	0/1	428	NON_SYNONYMOUS_CODING	MODERATE	None	0.08047	0.08047	0.00923	1.00	0.00		None None	None None None None	NRIP1\|0.321174489\|26.06%
	View	46651510241455_annotated	21	rs2229741 dbSNP Clinvar	16340289	4742.77	C	T	PASS	1/1	152	SYNONYMOUS_CODING	LOW	None	0.59944	0.59940	0.47993				None None	None None None None	NRIP1\|0.321174489\|26.06%
USP25
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	rs75761846 dbSNP Clinvar	17198541	2614.77	C	T	PASS	0/1	204	SYNONYMOUS_CODING	LOW	None	0.03614	0.03614	0.00015				None None	None None None None	USP25\|0.331783522\|25.35%
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	rs2026853 dbSNP Clinvar	17199289	969.77	G	A	PASS	0/1	155	None	None	None	0.23802	0.23800	0.20175				None None	None None None None	USP25\|0.331783522\|25.35%
	View	46651510241455_annotated	21	rs2823502 dbSNP Clinvar	17202780	249.77	A	C	PASS	0/1	33	None	None	None	0.29074	0.29070					None None	None None None None	USP25\|0.331783522\|25.35%

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+ Genes 140

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Genes at Omim

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Summary

IGHV1OR21-1

TPTE

TPTE

TPTE

TPTE

LIPI

RBM11

RBM11

SAMSN1

AF165138.7

NRIP1

USP25

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