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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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+ Genes 23

Genes:
ABAT, ABCC12, ACSF3, ACSM1, ACSM2A, ACSM5, COQ7, COX4I1, CYBA, DDX28, DHODH, DNAJA3, EARS2, ECI1, GCSH, GOT2, HSDL1, MRPL28, NME3, PDPR, RHOT2, TRAP1, WWOX,

+ Genes associated with diseases 8

Genes at Omim

ABAT, ACSF3, COQ7, CYBA, DHODH, EARS2, GCSH, WWOX,

ABAT	GABA-transaminase deficiency, 613163 (3)
ACSF3	Combined malonic and methylmalonic aciduria, 614265 (3)
COQ7	?Coenzyme Q10 deficiency, primary, 8, 616733 (3)
CYBA	Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
DHODH	Miller syndrome, 263750 (3)
EARS2	Combined oxidative phosphorylation deficiency 12, 614924 (3)
GCSH	?Glycine encephalopathy, 605899 (3)
WWOX	Epileptic encephalopathy, early infantile, 28, 616211 (3) Esophageal squamous cell carcinoma, somatic, 133239 (3) Spinocerebellar ataxia, autosomal recessive 12, 614322 (3)

Genes at Clinical Genomics Database

ABAT, ACSF3, COQ7, CYBA, DHODH, EARS2, GCSH, TRAP1, WWOX,

ABAT	GABA-transaminase deficiency
ACSF3	Combined malonic and methylmalonic aciduria
COQ7	Coenzyme Q10 deficiency, primary 8
CYBA	Chronic granulomatous disease, autosomal, due to deficiency of CYBA
DHODH	Postaxial acrofacial dysostosis (Miller syndrome)
EARS2	Combined oxidative phosphorylation deficiency 12
GCSH	Glycine encephalopathy
TRAP1	Congenital abnormalities of the kidney and urinary tract VACTERL association
WWOX	Epileptic encephalopathy, early infantile, 28 Spinocerebellar ataxia, autosomal recessive 12

Genes at HGMD

Summary

Number of Variants: 57
Number of Genes: 23

Export to: CSV

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ABAT
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	gpp10314_20120828021333_nucseek	16	rs1641022 dbSNP Clinvar	8868776	9698.01	C	A	PASS	0/1	742	SYNONYMOUS_CODING	LOW	None	0.31749	0.31750	0.32261				None None	None None None None	ABAT\|0.163825558\|41.04%
	View	gpp10314_20120828021333_nucseek	16	rs1731017 dbSNP Clinvar	8839954	3167.0	A	G	PASS	1/1	143	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.50080	0.50080	0.48599	0.61	0.00		None None	None None None None	ABAT\|0.163825558\|41.04%
ABCC12
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	gpp10314_20120828021333_nucseek	16	rs12149826 dbSNP Clinvar	48164777	32767.01	T	C	PASS	1/1	1328	SYNONYMOUS_CODING	LOW	None	0.12081	0.12080	0.22335				None None	None None None None	ABCC12\|0.070949421\|57.23%
	View	gpp10314_20120828021333_nucseek	16	rs7193955 dbSNP Clinvar	48122582	9678.01	G	A	PASS	1/1	251	NON_SYNONYMOUS_CODING	MODERATE	None	0.59125	0.59130	0.40394	0.09	0.01		None None	None None None None	ABCC12\|0.070949421\|57.23%
ACSF3
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	gpp10314_20120828021333_nucseek	16	rs6500527 dbSNP Clinvar	89167431	13274.01	G	C	PASS	1/1	328	SYNONYMOUS_CODING	LOW	None	0.61981	0.61980	0.27755				None None	None None None None	ACSF3\|0.012049699\|79.2%
	View	gpp10314_20120828021333_nucseek	16	rs7188200 dbSNP Clinvar	89167094	1337.0	T	C	PASS	1/1	55	NON_SYNONYMOUS_CODING	MODERATE	None	0.62440	0.62440		0.27	0.00		None None	None None None None	ACSF3\|0.012049699\|79.2%
	View	gpp10314_20120828021333_nucseek	16	rs7201122 dbSNP Clinvar	89167140	7596.01	G	C	PASS	1/1	250	SYNONYMOUS_CODING	LOW	None	0.84924	0.84920	0.08482				None None	None None None None	ACSF3\|0.012049699\|79.2%
	View	gpp10314_20120828021333_nucseek	16	rs6500526 dbSNP Clinvar	89167395	11397.01	C	T	PASS	1/1	298	SYNONYMOUS_CODING	LOW	None	0.61901	0.61900	0.27585				None None	None None None None	ACSF3\|0.012049699\|79.2%
	View	gpp10314_20120828021333_nucseek	16	rs7193255 dbSNP Clinvar	89167404	11014.01	T	C	PASS	1/1	307	SYNONYMOUS_CODING	LOW	None	0.61981	0.61980	0.27532				None None	None None None None	ACSF3\|0.012049699\|79.2%
	View	gpp10314_20120828021333_nucseek	16	rs6500528 dbSNP Clinvar	89167443	11387.01	T	C	PASS	1/1	305	SYNONYMOUS_CODING	LOW	None	0.61981	0.61980	0.27455				None None	None None None None	ACSF3\|0.012049699\|79.2%
	View	gpp10314_20120828021333_nucseek	16	rs6500529 dbSNP Clinvar	89167458	11407.01	C	A	PASS	1/1	308	SYNONYMOUS_CODING	LOW	None	0.61921	0.61920					None None	None None None None	ACSF3\|0.012049699\|79.2%
	View	gpp10314_20120828021333_nucseek	16	rs3743979 dbSNP Clinvar	89180883	824.0	G	A	PASS	1/1	22	NON_SYNONYMOUS_CODING	MODERATE	None	0.62959	0.62960	0.29186	0.10	0.63		None None	None None None None	ACSF3\|0.012049699\|79.2%
	View	gpp10314_20120828021333_nucseek	16	rs12447947 dbSNP Clinvar	89199651	18182.01	G	A	PASS	0/1	1853	SYNONYMOUS_CODING	LOW	None	0.14537	0.14540	0.26277				None None	None None None None	ACSF3\|0.012049699\|79.2%
ACSM1
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	gpp10314_20120828021333_nucseek	16	rs2301672 dbSNP Clinvar	20636814	11749.01	G	A	PASS	0/1	1073	SYNONYMOUS_CODING	LOW	None	0.18031	0.18030	0.09468				None None	None None None None	ACSM3\|0.167284946\|40.62%,ACSM1\|0.006779542\|83.72%
	View	gpp10314_20120828021333_nucseek	16	rs1692729 dbSNP Clinvar	20638576	8055.01	A	T	PASS	0/1	700	SYNONYMOUS_CODING	LOW	None	0.60583	0.60580	0.46293				None None	None None None None	ACSM3\|0.167284946\|40.62%,ACSM1\|0.006779542\|83.72%
	View	gpp10314_20120828021333_nucseek	16	rs3743690 dbSNP Clinvar	20635418	10360.01	C	T	PASS	0/1	983	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.18371	0.18370	0.09722				None None	None None None None	ACSM3\|0.167284946\|40.62%,ACSM1\|0.006779542\|83.72%
ACSM2A
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	gpp10314_20120828021333_nucseek	16	rs9924150 dbSNP Clinvar	20492000	16799.01	A	G	PASS	1/1	839	NON_SYNONYMOUS_CODING	MODERATE	None	0.82628	0.82630		1.00	0.00		None None	None None None None	ACSM2A\|0.005190474\|85.6%
	View	gpp10314_20120828021333_nucseek	16	rs1700805 dbSNP Clinvar	20488696	87.01	A	G	PASS	0/1	14	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None	0.48482	0.48480	0.35969				None None	None None None None	ACSM2A\|0.005190474\|85.6%
	View	gpp10314_20120828021333_nucseek	16	rs59292608 dbSNP Clinvar	20471450	1241.01	G	A	PASS	0/1	161	NON_SYNONYMOUS_CODING	MODERATE	None	0.16953	0.16950	0.10834	0.35	0.01		None None	None None None None	ACSM2A\|0.005190474\|85.6%
	View	gpp10314_20120828021333_nucseek	16	rs7187246 dbSNP Clinvar	20476852	9446.01	T	C	PASS	0/1	1153	NON_SYNONYMOUS_CODING	MODERATE	None	0.50559	0.50560	0.38667	1.00	0.00		None None	None None None None	ACSM2A\|0.005190474\|85.6%
ACSM5
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	gpp10314_20120828021333_nucseek	16	rs8062344 dbSNP Clinvar	20441053	205.01	C	G	PASS	0/1	20	NON_SYNONYMOUS_CODING	MODERATE	None	0.43910	0.43910	0.40135	0.00	0.96		None None	None None None None	ACSM5\|0.017561285\|75.57%
	View	gpp10314_20120828021333_nucseek	16	rs8063682 dbSNP Clinvar	20441084	396.01	T	C	PASS	0/1	35	SYNONYMOUS_CODING	LOW	None	0.54253	0.54250	0.43532				None None	None None None None	ACSM5\|0.017561285\|75.57%
COQ7
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	gpp10314_20120828021333_nucseek	16	rs11074359 dbSNP Clinvar	19085298	9751.01	C	T	PASS	0/1	729	NON_SYNONYMOUS_CODING	MODERATE	None	0.57468	0.57470	0.46244	0.06	0.55		None None	None None None None	COQ7\|0.07755176\|55.76%
COX4I1
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	gpp10314_20120828021333_nucseek	16	rs2599091 dbSNP Clinvar	85838653	3926.01	T	C	PASS	1/1	146	SYNONYMOUS_CODING	LOW	None	0.97704	0.97700	0.02762				None None	None None None None	COX4I1\|0.092550833\|52.7%
CYBA
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	gpp10314_20120828021333_nucseek	16	rs4673 dbSNP Clinvar	88713236	10587.01	A	G	PASS	1/1	471	NON_SYNONYMOUS_CODING	MODERATE	None	0.66434	0.66430	0.37842	0.28	0.02		None None	None None None None	CYBA\|0.038823068\|66.16%
	View	gpp10314_20120828021333_nucseek	16	rs8053867 dbSNP Clinvar	88717386	6061.01	T	C	PASS	1/1	147	SYNONYMOUS_CODING	LOW	None	0.99561	0.99560	0.00278				None None	None None None None	CYBA\|0.038823068\|66.16%
DDX28
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	gpp10314_20120828021333_nucseek	16	rs237831 dbSNP Clinvar	68057096	16230.01	T	C	PASS	1/1	507	NON_SYNONYMOUS_CODING	MODERATE	None	0.97284	0.97280	0.05297	1.00	0.00		None None	None None None None	DUS2\|0.231209011\|33.27%,DDX28\|0.025954157\|71.34%
DHODH
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	gpp10314_20120828021333_nucseek	16	rs3213422 dbSNP Clinvar	72042682	9890.01	A	C	PASS	0/1	970	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.56410	0.56410	0.45535	0.19	0.01		None None	None None None None	DHODH\|0.325470662\|25.78%
DNAJA3
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	gpp10314_20120828021333_nucseek	16	rs1139652 dbSNP Clinvar	4476089	13648.01	T	C	PASS	1/1	449	SYNONYMOUS_CODING	LOW	None	0.64197	0.64200	0.29675				None None	None None None None	DNAJA3\|0.212566641\|35.3%
	View	gpp10314_20120828021333_nucseek	16	rs2304633 dbSNP Clinvar	4496973	10084.01	T	A	PASS	1/1	439	SYNONYMOUS_CODING	LOW	None	0.62780	0.62780	0.30445				None None	None None None None	DNAJA3\|0.212566641\|35.3%
	View	gpp10314_20120828021333_nucseek	16	rs1139653 dbSNP Clinvar	4484396	23203.01	A	T	PASS	1/1	729	NON_SYNONYMOUS_CODING	MODERATE	None	0.63498	0.63500	0.29691	1.00	0.00		None None	None None None None	DNAJA3\|0.212566641\|35.3%
EARS2
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	gpp10314_20120828021333_nucseek	16	rs6497671 dbSNP Clinvar	23536684	29947.01	T	C	PASS	1/1	1228	NON_SYNONYMOUS_CODING	MODERATE	None	0.80192	0.80190	0.15038	1.00	0.00		None None	None None None None	EARS2\|0.109721284\|49.25%
	View	gpp10314_20120828021333_nucseek	16	rs7187920 dbSNP Clinvar	23563501	27220.01	C	T	PASS	1/1	1014	SYNONYMOUS_CODING	LOW	None	0.67472	0.67470	0.26567				None None	None None None None	EARS2\|0.109721284\|49.25%
	View	gpp10314_20120828021333_nucseek	16	rs2073951 dbSNP Clinvar	23546561	30574.01	G	C	PASS	1/1	1231	SYNONYMOUS_CODING	LOW	None	0.80272	0.80270	0.14751				None None	None None None None	EARS2\|0.109721284\|49.25%
ECI1
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	gpp10314_20120828021333_nucseek	16	rs112729404 dbSNP Clinvar	2296927	12142.01	G	A	PASS	0/1	1365	NON_SYNONYMOUS_CODING	MODERATE	None	0.00659	0.00659	0.00285	0.05	0.38		None None	None None None None	ECI1\|0.061986927\|59.32%
GCSH
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	gpp10314_20120828021333_nucseek	16	rs8052579 dbSNP Clinvar	81129822	8672.01	G	A	PASS	1/1	266	NON_SYNONYMOUS_CODING	MODERATE	None	0.72264	0.72260		0.26	0.00		None None	None None None None	GCSH\|0.200287354\|36.73%
GOT2
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	gpp10314_20120828021333_nucseek	16	rs30842 dbSNP Clinvar	58743454	14045.01	A	C	PASS	0/1	847	NON_SYNONYMOUS_CODING	MODERATE	None	0.75519	0.75520	0.25469	1.00	0.00		None None	None None None None	GOT2\|0.777656233\|6.37%
HSDL1
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	gpp10314_20120828021333_nucseek	16	rs4378600 dbSNP Clinvar	84158248	9690.01	G	C	PASS	0/1	997	NON_SYNONYMOUS_CODING	MODERATE	None	0.24720	0.24720	0.27123	0.00	0.32		None None	None None None None	HSDL1\|0.061467995\|59.45%
MRPL28
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	gpp10314_20120828021333_nucseek	16	rs3830160 dbSNP Clinvar	419092	28507.01	A	G	PASS	1/1	999	SYNONYMOUS_CODING	LOW	None	0.68131	0.68130	0.33154				None None	None None None None	None
	View	gpp10314_20120828021333_nucseek	16	rs13226 dbSNP Clinvar	417757	1777.01	T	C	PASS	0/1	125	NON_SYNONYMOUS_CODING	MODERATE	None	0.02975	0.02975	0.06266	0.21	0.11		None None	None None None None	None
NME3
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	gpp10314_20120828021333_nucseek	16	rs11890 dbSNP Clinvar	1820992	16562.01	T	A	PASS	1/1	644	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None	0.76358	0.76360	0.16050				None None	None None None None	NME3\|0.015536375\|76.78%
PDPR
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	gpp10314_20120828021333_nucseek	16	.	70182375	17343.01	T	C	PASS	0/1	1679	SYNONYMOUS_CODING	LOW	None						4.21	0.08 0.73571 D	None None None None	PDPR\|0.230085015\|33.36%
	View	gpp10314_20120828021333_nucseek	16	rs62050978 dbSNP Clinvar	70182390	20012.01	T	G	PASS	0/1	2005	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	0.09		None None	None None None None	PDPR\|0.230085015\|33.36%
	View	gpp10314_20120828021333_nucseek	16	rs200469748 dbSNP Clinvar	70154480	32767.01	A	G	PASS	0/1	3331	NON_SYNONYMOUS_CODING	MODERATE	None				0.74	0.00		None None	None None None None	PDPR\|0.230085015\|33.36%
	View	gpp10314_20120828021333_nucseek	16	rs2549532 dbSNP Clinvar	70161263	32767.01	T	C	PASS	1/1	2067	NON_SYNONYMOUS_CODING	MODERATE	None				0.33	0.00		None None	None None None None	PDPR\|0.230085015\|33.36%
	View	gpp10314_20120828021333_nucseek	16	rs6499302 dbSNP Clinvar	70190401	32767.01	C	T	PASS	0/1	4966	SYNONYMOUS_CODING	LOW	None			0.39782				None None	None None None None	PDPR\|0.230085015\|33.36%
	View	gpp10314_20120828021333_nucseek	16	rs10852462 dbSNP Clinvar	70164334	13932.01	A	G	PASS	0/1	1121	NON_SYNONYMOUS_CODING	MODERATE	None				0.69	0.13		None None	None None None None	PDPR\|0.230085015\|33.36%
	View	gpp10314_20120828021333_nucseek	16	rs59034887 dbSNP Clinvar	70170222	3136.01	G	T	PASS	0/1	985	NON_SYNONYMOUS_CODING	MODERATE	None			0.14131	0.17	0.01		None None	None None None None	PDPR\|0.230085015\|33.36%
RHOT2
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	gpp10314_20120828021333_nucseek	16	rs7204542 dbSNP Clinvar	718514	7006.01	C	G	PASS	0/1	693	SYNONYMOUS_CODING	LOW	None	0.54673	0.54670	0.31822				None None	None None None None	RHOT2\|0.051756673\|62.14%
TRAP1
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	gpp10314_20120828021333_nucseek	16	rs151231225 dbSNP Clinvar	3729770	11753.01	G	C	PASS	0/1	1059	NON_SYNONYMOUS_CODING	MODERATE	None			0.00039	0.08	0.03		None None	None None None None	DNASE1\|0.039855019\|65.82%,TRAP1\|0.168599632\|40.51%
WWOX
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	gpp10314_20120828021333_nucseek	16	rs11545029 dbSNP Clinvar	78420775	2460.01	G	A	PASS	0/1	173	NON_SYNONYMOUS_CODING	MODERATE	None	0.26338	0.26340	0.45934	0.39	0.14		None None	None None None None	WWOX\|0.999159326\|0.38%
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	gpp10314_20120828021333_nucseek	16	rs7187776 dbSNP Clinvar	28857645	5957.01	A	G	PASS	1/1	256	None	None	None	0.34924	0.34920					None None	None None None None	TUFM\|0.40478455\|20.48%
	View	gpp10314_20120828021333_nucseek	16	rs178602 dbSNP Clinvar	57481305	333.01	T	C	PASS	1/1	9	None	None	None	0.75959	0.75960					None None	None None None None	CIAPIN1\|0.093649359\|52.43%
	View	gpp10314_20120828021333_nucseek	16	rs1468138 dbSNP Clinvar	23535680	30363.01	A	C	PASS	1/1	1029	None	None	None	0.80212	0.80210	0.14994				None None	None None None None	EARS2\|0.109721284\|49.25%
	View	gpp10314_20120828021333_nucseek	16	rs12049 dbSNP Clinvar	8889628	1002.01	T	C	PASS	0/1	69	None	None	None	0.39297	0.39300					None None	None None None None	TMEM186\|0.009264274\|81.48%,PMM2\|0.169037726\|40.44%
	View	gpp10314_20120828021333_nucseek	16	rs1057071 dbSNP Clinvar	1859150	1801.0	G	A	PASS	1/1	46	None	None	None	0.72145	0.72140					None None	None None None None	HAGH\|0.057316642\|60.6%
	View	gpp10314_20120828021333_nucseek	16	rs1057070 dbSNP Clinvar	1859153	1899.0	T	C	PASS	1/1	46	None	None	None	0.72145	0.72140					None None	None None None None	HAGH\|0.057316642\|60.6%

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+ Genes 23

+ Genes associated with diseases 8

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ABAT

ABCC12

ACSF3

ACSM1

ACSM2A

ACSM5

COQ7

COX4I1

CYBA

DDX28

DHODH

DNAJA3

EARS2

ECI1

GCSH

GOT2

HSDL1

MRPL28

NME3

PDPR

RHOT2

TRAP1

WWOX

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