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

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Genes:
ADCK3, ADCY10, AKR7L, ALDH4A1, AMPD1, CAPN9, CHI3L1, CHI3L2, CHIA, DUSP12, EPHA2, EPHB2, FMO6P, HSPA6, IL22RA1, LGALS8, NCF2, NEK2, NTRK1, OR2L8, PADI2, PCSK9, PRAMEF1, PVRL4, RBBP4, RHOU, SRM, THEM5, TP73, TTC4,

+ Genes associated with diseases 11

Genes at Omim

ADCK3, ADCY10, ALDH4A1, AMPD1, CHI3L1, EPHA2, EPHB2, NCF2, NEK2, NTRK1, PCSK9,

ADCK3	Coenzyme Q10 deficiency, primary, 4, 612016 (3)
ADCY10	{Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
ALDH4A1	Hyperprolinemia, type II, 239510 (3)
AMPD1	Myopathy due to myoadenylate deaminase deficiency, 615511 (3)
CHI3L1	{Schizophrenia, susceptibility to}, 181500 (3) {Asthma-related traits, susceptibility to, 7}, 611960 (3)
EPHA2	Cataract 6, multiple types, 116600 (3)
EPHB2	{Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3)
NCF2	Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NEK2	?Retinitis pigmentosa 67, 615565 (3)
NTRK1	Insensitivity to pain, congenital, with anhidrosis, 256800 (3) Medullary thyroid carcinoma, familial, 155240 (3)
PCSK9	{Low density lipoprotein cholesterol level QTL 1}, 603776 (3) Hypercholesterolemia, familial, 3, 603776 (3)

Genes at Clinical Genomics Database

ADCK3, ALDH4A1, AMPD1, EPHA2, NCF2, NEK2, NTRK1, PCSK9,

ADCK3	Coenzyme Q10 deficiency Progressive cerebellar ataxia and atrophy Spinocerebellar ataxia 9
ALDH4A1	Hyperprolinemia, type II
AMPD1	Myoadenylate deaminase deficiency
EPHA2	Cataract 6, multiple types
NCF2	Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
NEK2	Retinitis pigmentosa 67
NTRK1	Insensitivity to pain, congenital, with anhidrosis
PCSK9	Hypercholesterolemia, familial, 3

Genes at HGMD

Summary

Number of Variants: 40
Number of Genes: 30

Export to: CSV

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ADCK3
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	15001711234580a snp	1	rs12593 dbSNP Clinvar	227172290	546.77	C	T	PASS	0/1	40	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.23862	0.23860	0.37367				None None	None None None None	ADCK3\|0.102470418\|50.69%
	View	15001711234580a snp	1	rs3738725 dbSNP Clinvar	227174210	622.77	T	C	PASS	0/1	41	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.31390	0.31390	0.44218				None None	None None None None	ADCK3\|0.102470418\|50.69%
ADCY10
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	15001711234580a snp	1	rs203849 dbSNP Clinvar	167849414	1314.77	A	G	PASS	1/1	37	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.49321	0.49320	0.46570				None None	None None None None	ADCY10\|0.02878338\|70.03%
AKR7L
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	15001711234580a snp	1	rs190747734 dbSNP Clinvar	19597328	604.77	A	G	PASS	0/1	38	STOP_LOST	HIGH	MISSENSE	0.03095	0.03095	0.02937				None None	None None None None	AKR7L\|0.018209366\|75.16%
ALDH4A1
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	15001711234580a snp	1	rs2230705 dbSNP Clinvar	19203997	1293.77	C	G	PASS	1/1	34	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.64157	0.64160	0.28846				None None	None None None None	ALDH4A1\|0.121498662\|47.22%
	View	15001711234580a snp	1	rs2230708 dbSNP Clinvar	19201956	483.77	A	G	PASS	0/1	35	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.73722	0.73720	0.29779				None None	None None None None	ALDH4A1\|0.121498662\|47.22%
	View	15001711234580a snp	1	rs2230709 dbSNP Clinvar	19201928	325.77	C	T	PASS	0/1	22	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.04792	0.04792	0.11203	0.56	0.11		None None	None None None None	ALDH4A1\|0.121498662\|47.22%
AMPD1
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	15001711234580a snp	1	rs17602729 dbSNP Clinvar	115236057	1028.77	G	A	PASS	0/1	57	STOP_GAINED+SPLICE_SITE_REGION	HIGH	NONSENSE	0.03814	0.03814	0.09459				None None	None None None None	AMPD1\|0.217023192\|34.75%
CAPN9
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	15001711234580a snp	1	rs3828126 dbSNP Clinvar	230903350	448.77	T	C	PASS	0/1	33	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.22464	0.22460	0.28256				None None	None None None None	CAPN9\|0.040556214\|65.59%
	View	15001711234580a snp	1	rs2282319 dbSNP Clinvar	230898494	823.77	C	T	PASS	0/1	44	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.33287	0.33290	0.33731				None None	None None None None	CAPN9\|0.040556214\|65.59%
CHI3L1
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	15001711234580a snp	1	rs880633 dbSNP Clinvar	203152801	1962.77	T	C	PASS	1/1	52	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.37300	0.37300	0.41442	0.00	0.31		None None	None None None None	CHI3L1\|0.048433283\|63.15%
	View	15001711234580a snp	1	rs4950927 dbSNP Clinvar	203148633	1160.77	A	G	PASS	1/1	36	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.99960	0.99960	0.00185				None None	None None None None	CHI3L1\|0.048433283\|63.15%
CHI3L2
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	15001711234580a snp	1	rs13721 dbSNP Clinvar	111783982	989.77	C	A	PASS	0/1	50	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.10883	0.19030	0.23297				None None	None None None None	CHI3L2\|0.012602272\|78.81%
	View	15001711234580a snp	1	rs2494007 dbSNP Clinvar	111783996	1714.77	A	G	PASS	1/1	46	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.99940	0.99940	0.00062				None None	None None None None	CHI3L2\|0.012602272\|78.81%
CHIA
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	15001711234580a snp	1	rs2275253 dbSNP Clinvar	111861841	618.77	A	G	PASS	0/1	44	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.65915	0.65910	0.27764	0.99	0.00		None None	None None None None	CHIA\|0.03435619\|67.66%
DUSP12
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	15001711234580a snp	1	rs1063178 dbSNP Clinvar	161721707	1219.77	C	T	PASS	1/1	33	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.36002	0.36000	0.35399				None None	None None None None	DUSP12\|0.090238655\|53.19%
EPHA2
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	15001711234580a snp	1	rs6678616 dbSNP Clinvar	16475123	481.77	C	T	PASS	0/1	40	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.22644	0.22640	0.28495				None None	None None None None	EPHA2\|0.768915771\|6.62%
	View	15001711234580a snp	1	rs2230597 dbSNP Clinvar	16464673	849.77	G	A	PASS	1/1	24	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.34944	0.34940	0.38879				None None	None None None None	EPHA2\|0.768915771\|6.62%
	View	15001711234580a snp	1	rs6678618 dbSNP Clinvar	16475126	481.77	C	T	PASS	0/1	40	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.22664	0.22660	0.28487				None None	None None None None	EPHA2\|0.768915771\|6.62%
EPHB2
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	15001711234580a snp	1	rs538962894 dbSNP Clinvar	23233411	687.77	C	T	PASS	0/1	33	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.00060	0.00060					None None	None None None None	EPHB2\|0.948206989\|2.31%
FMO6P
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	15001711234580a snp	1	rs1736565 dbSNP Clinvar	171112490	1311.77	C	T	PASS	1/1	34	STOP_GAINED	HIGH	NONSENSE	0.63798	0.63800					None None	None None None None	FMO6P\|0.046611182\|63.71%
HSPA6
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	15001711234580a snp	1	rs1079109 dbSNP Clinvar	161495040	636.77	C	T	PASS	0/1	51	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.12420	0.12420	0.08957	0.00	1.00		None None	None None None None	HSPA6\|0.031348421\|68.86%
IL22RA1
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	15001711234580a snp	1	rs10903022 dbSNP Clinvar	24465113	580.77	C	T	PASS	0/1	37	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.47065	0.47060	0.34430				None None	None None None None	IL22RA1\|0.007247763\|83.26%
LGALS8
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	15001711234580a snp	1	rs2273865 dbSNP Clinvar	236706300	785.77	T	A	PASS	0/1	36	STOP_GAINED	HIGH	NONSENSE	0.13119	0.13120	0.09165				None None	None None None None	LGALS8\|0.03333972\|68.01%
	View	15001711234580a snp	1	rs1041935 dbSNP Clinvar	236700857	595.77	C	T	PASS	0/1	43	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.50000	0.50000	0.38167	0.00	0.01		None None	None None None None	LGALS8\|0.03333972\|68.01%
	View	15001711234580a snp	1	rs1126407 dbSNP Clinvar	236700807	382.77	T	A	PASS	0/1	30	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.49980	0.49980	0.38159	1.00	0.01		None None	None None None None	LGALS8\|0.03333972\|68.01%
NCF2
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	15001711234580a snp	1	rs2274064 dbSNP Clinvar	183542387	322.77	T	C	PASS	0/1	35	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.49161	0.49160	0.43003	0.81	0.00		None None	None None None None	SMG7\|0.512183924\|15.29%,NCF2\|0.147913497\|43.31%
NEK2
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	15001711234580a snp	1	rs701929 dbSNP Clinvar	211846876	533.77	A	G	PASS	0/1	37	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.60304	0.60300	0.49854				None None	None None None None	NEK2\|0.323638729\|25.91%
NTRK1
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	15001711234580a snp	1	rs6334 dbSNP Clinvar	156846233	420.77	G	A	PASS	0/1	25	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.21286	0.21290	0.19360				None None	None None None None	NTRK1\|0.341411283\|24.74%
OR2L8
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	15001711234580a snp	1	rs10888281 dbSNP Clinvar	248113026	1249.77	T	A	PASS	1/1	34	STOP_GAINED	HIGH	NONSENSE	0.74581	0.74580	0.25235				None None	None None None None	OR2L13\|0.004043561\|86.95%,OR2L8\|0.001567189\|92.47%
PADI2
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	15001711234580a snp	1	rs3818032 dbSNP Clinvar	17402255	729.77	C	T	PASS	0/1	42	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.52596	0.52600	0.38490				None None	None None None None	PADI2\|0.185823973\|38.27%
PCSK9
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	15001711234580a snp	1	rs540796 dbSNP Clinvar	55524197	1544.77	A	G	PASS	1/1	42	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.86921	0.86920	0.18222				None None	None None None None	PCSK9\|0.022266519\|73.06%
PRAMEF1
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	15001711234580a snp	1	rs79698223 dbSNP Clinvar	12854090	714.77	T	A	PASS	0/1	52	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	PRAMEF1\|0.000484368\|98.53%
PVRL4
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	15001711234580a snp	1	rs77444104 dbSNP Clinvar	161049383	501.77	G	T	PASS	0/1	38	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.00519	0.00519	0.01321	0.18	0.31		None None	None None None None	PVRL4\|0.115473717\|48.21%
RBBP4
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	15001711234580a snp	1	rs2762904 dbSNP Clinvar	33133968	1898.77	T	C	PASS	1/1	52	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.96785	0.96790	0.03014				None None	None None None None	RBBP4\|0.867298197\|4.31%
RHOU
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	15001711234580a snp	1	rs3738073 dbSNP Clinvar	228871693	295.77	C	T	PASS	0/1	23	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.12899	0.12900	0.16425				None None	None None None None	RHOU\|0.062565464\|59.19%
SRM
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	15001711234580a snp	1	rs13616 dbSNP Clinvar	11114940	360.77	G	T	PASS	0/1	26	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.16773	0.16770	0.08519				None None	None None None None	SRM\|0.154905334\|42.31%
THEM5
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	15001711234580a snp	1	rs6587625 dbSNP Clinvar	151820324	1549.77	T	C	PASS	1/1	42	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.77796	0.77800	0.17454	1.00	0.00		None None	None None None None	THEM5\|0.019802757\|74.29%
TP73
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	15001711234580a snp	1	rs1801174 dbSNP Clinvar	3638674	606.77	C	T	PASS	0/1	48	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.73602	0.73600	0.15054				None None	None None None None	TP73\|0.323241881\|25.95%
TTC4
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	15001711234580a snp	1	rs1147990 dbSNP Clinvar	55182300	1687.77	T	A	PASS	1/1	46	STOP_GAINED	HIGH	NONSENSE	0.66833	0.66830	0.47509	0.27	0.00		None None	None None None None	TTC4\|0.085109121\|54.15%