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

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Genes:
AMPD3, BSCL2, CBL, CLP1, CTSF, DHCR7, DRD4, DYNC2H1, FAM111A, GRM5, KCNJ1, KCNQ1, KIF18A, MAP6, MICALCL, MMP10, MMP3, MS4A12, MS4A6E, MUC5B, NAV2, PHF21A, SBF2, SIAE, SIPA1, SUV420H1, TRPC6, UNC93B1, USH1C, ZP1,

+ Genes associated with diseases 19

Genes at Omim

AMPD3, BSCL2, CBL, CLP1, CTSF, DHCR7, DRD4, DYNC2H1, FAM111A, KCNJ1, KCNQ1, MMP3, MUC5B, SBF2, SIAE, TRPC6, UNC93B1, USH1C, ZP1,

AMPD3	[AMP deaminase deficiency, erythrocytic], 612874 (3)
BSCL2	Encephalopathy, progressive, with or without lipodystrophy, 615924 (3) Lipodystrophy, congenital generalized, type 2, 269700 (3) Neuropathy, distal hereditary motor, type VA, 600794 (3) Silver spastic paraplegia syndrome, 270685 (3)
CBL	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3) ?Juvenile myelomonocytic leukemia, 607785 (3)
CLP1	Pontocerebellar hypoplasia, type 10, 615803 (3)
CTSF	Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)
DHCR7	Smith-Lemli-Opitz syndrome, 270400 (3)
DRD4	Autonomic nervous system dysfunction (3) [Novelty seeking personality], 601696 (1) {Attention deficit-hyperactivity disorder}, 143465 (3)
DYNC2H1	Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
FAM111A	Gracile bone dysplasia, 602361 (3) Kenny-Caffey syndrome, type 2, 127000 (3)
KCNJ1	Bartter syndrome, type 2, 241200 (3)
KCNQ1	Atrial fibrillation, familial, 3, 607554 (3) {Long QT syndrome 1, acquired, susceptibility to}, 192500 (3) Jervell and Lange-Nielsen syndrome, 220400 (3) Long QT syndrome 1, 192500 (3) Short QT syndrome 2, 609621 (3)
MMP3	{Coronary heart disease, susceptibility to, 6}, 614466 (3)
MUC5B	{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
SBF2	Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
SIAE	{Autoimmune disease, susceptibility to, 6}, 613551 (3)
TRPC6	Glomerulosclerosis, focal segmental, 2, 603965 (3)
UNC93B1	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)
USH1C	Deafness, autosomal recessive 18A, 602092 (3) Usher syndrome, type 1C, 276904 (3)
ZP1	Oocyte maturation defect 1, 615774 (3)

Genes at Clinical Genomics Database

AMPD3, BSCL2, CBL, CLP1, CTSF, DHCR7, DYNC2H1, FAM111A, KCNJ1, KCNQ1, SBF2, TRPC6, UNC93B1, USH1C, ZP1,

AMPD3	Erythrocytic AMP deaminase deficiency
BSCL2	Lipodystrophy, congenital generalized, type 2 Encephalopathy, progressive, with or without lipodystrophy
CBL	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia, familial
CLP1	Pontocerebellar hypoplasia type 10
CTSF	Neuronal ceroid lipofuscinosis 13
DHCR7	Smith-Lemli-Opitz syndrome
DYNC2H1	Short-rib thoracic dysplasia 3 with or without polydactyly
FAM111A	Kenny-Caffey syndrome, type 2
KCNJ1	Bartter syndrome, antenatal, type 2
KCNQ1	Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Short QT syndrome 2 Atrial fibrillation, familial 3
SBF2	Charcot-Marie-Tooth disease, type 4B2 with early-onset glaucoma
TRPC6	Focal segmental glomerulosclerosis 2
UNC93B1	Herpes simplex encephalitis, susceptibility to, 1
USH1C	Usher syndrome, type IC Deafness, autosomal recessive 18A
ZP1	Oocyte maturation defect 1

Genes at HGMD

Summary

Number of Variants: 84
Number of Genes: 30

Export to: CSV

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AMPD3
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	allllllllllllyblswd	11	.	10483196	1484.0	C	G	.	0/1	144	NON_SYNONYMOUS_CODING	MODERATE	None				0.18	0.01	2.20	0.01 0.26081 T	None None None None	AMPD3\|0.504907229\|15.58%
BSCL2
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	allllllllllllyblswd	11	rs879253900 dbSNP Clinvar	62470017	379.0	C	T	.	0/1	26	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	0.98	6.86	0.10 0.77491 D	None None None None	BSCL2\|0.09973617\|51.22%
CBL
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	allllllllllllyblswd	11	rs199788586 dbSNP Clinvar	119169128	935.0	A	T	.	0/1	69	NON_SYNONYMOUS_CODING	MODERATE	None			0.00015	0.10	0.00	2.92	0.02 0.46793 T	None None None None	CBL\|0.892719131\|3.6%
CLP1
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	allllllllllllyblswd	11	rs113685226 dbSNP Clinvar	57427074	954.0	A	G	.	0/1	93	SYNONYMOUS_CODING	LOW	None	0.00120	0.00120	0.00200				None None	None None None None	CLP1\|0.48152534\|16.7%
CTSF
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	allllllllllllyblswd	11	.	66335470	196.0	C	A	.	0/1	19	SYNONYMOUS_CODING	LOW	None							None None	None None None None	CTSF\|0.032488567\|68.38%
DHCR7
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	allllllllllllyblswd	11	rs77762671 dbSNP Clinvar	71146845	1639.0	G	A	.	1\|0	108	NON_SYNONYMOUS_CODING	MODERATE	None		0.00020		0.70	0.01	-0.15	0.04 0.5759 D	None None None None	DHCR7\|0.081765547\|54.8%
DRD4
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	allllllllllllyblswd	11	rs762502 dbSNP Clinvar	640119	174.0	C	T,G	.	1/1	17	NON_SYNONYMOUS_CODING	MODERATE	None	0.66334	0.66330		0.18	0.06	1.15	0.05 0.6523 D	None None None None	None
DYNC2H1
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	allllllllllllyblswd	11	.	103115981	89.0	A	G	.	0/1	12	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None				0.01	0.99	6.29	0.11 0.78317 D	None None None None	DYNC2H1\|0.272755366\|29.66%
	View	allllllllllllyblswd	11	.	102992112	25.0	G	A	.	0/1	6	NON_SYNONYMOUS_CODING	MODERATE	None				0.10	0.80	3.18	0.02 0.45297 T	None None None None	DYNC2H1\|0.272755366\|29.66%
FAM111A
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	allllllllllllyblswd	11	rs749281780 dbSNP Clinvar	58919706	989.0	A	G	.	0/1	69	NON_SYNONYMOUS_CODING	MODERATE	None				0.59	0.00	-2.58	0.01 0.21902 T	None None None None	FAM111A\|0.001120251\|94.85%
GRM5
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	allllllllllllyblswd	11	.	88300627	1002.0	T	C	.	0/1	78	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.01	0.06	0.05 0.63679 D	None None None None	GRM5\|0.60765444\|11.53%
KCNJ1
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	allllllllllllyblswd	11	.	128710111	775.0	C	A	.	0/1	64	NON_SYNONYMOUS_CODING	MODERATE	None				0.11	0.02	-0.03	0.10 0.76491 D	None None None None	KCNJ1\|0.383707111\|21.79%
KCNQ1
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	allllllllllllyblswd	11	rs12720457 dbSNP Clinvar	2608850	870.0	G	T	.	0/1	70	NON_SYNONYMOUS_CODING	MODERATE	None	0.00060	0.00060	0.00069	0.12	0.50	0.83	0.27 0.89798 D	None None None None	KCNQ1\|0.362119637\|23.28%
KIF18A
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	allllllllllllyblswd	11	rs73434496 dbSNP Clinvar	28080640	1401.0	T	C	.	0/1	94	NON_SYNONYMOUS_CODING	MODERATE	None	0.00359	0.00359	0.00254	0.12	0.00	1.02	None None	None None None None	KIF18A\|0.33526881\|25.11%
MAP6
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	allllllllllllyblswd	11	rs755307410 dbSNP Clinvar	75298605	1447.0	C	T	.	0/1	102	SYNONYMOUS_CODING	LOW	None							None None	None None None None	MAP6\|0.029257326\|69.72%
MICALCL
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	allllllllllllyblswd	11	rs767104379 dbSNP Clinvar	12316344	1520.0	G	GC...	.	0/1	99	CODON_INSERTION	MODERATE	None							None None	None None None None	MICALCL\|0.003201698\|88.32%
MMP10
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	allllllllllllyblswd	11	rs147267769 dbSNP Clinvar	102643604	736.0	G	T	.	0/1	66	STOP_GAINED	HIGH	None	0.00140	0.00140	0.00238			11.21	None None	None None None None	MMP10\|0.012475136\|78.9%
MMP3
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	allllllllllllyblswd	11	.	102713164	31.0	C	T	.	1\|0	9	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None				0.68	0.01	-0.18	0.00 0.05956 T	None None None None	MMP3\|0.461471213\|17.61%
MS4A12
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	allllllllllllyblswd	11	rs111546873 dbSNP Clinvar	60269505	331.0	G	A	.	1\|0	42	NON_SYNONYMOUS_CODING	MODERATE	None				0.09	0.00	0.13	0.00 0.10581 T	None None None None	MS4A12\|0.000555931\|98.15%
MS4A6E
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	allllllllllllyblswd	11	rs774416460 dbSNP Clinvar	60105351	1484.0	ACTT	A	.	0/1	85	CODON_DELETION	MODERATE	None			0.00008				None None	None None None None	MS4A6E\|0.000800637\|96.64%
MUC5B
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	allllllllllllyblswd	11	rs745661967 dbSNP Clinvar	1247970	869.0	G	A	.	0/1	80	NON_SYNONYMOUS_CODING	MODERATE	None				0.03	0.57	1.34	0.03 0.56144 D	None None None None	MUC5B\|0.001251586\|94.15%
NAV2
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	allllllllllllyblswd	11	rs768693935 dbSNP Clinvar	20117270	429.0	C	T	.	0/1	39	NON_SYNONYMOUS_CODING	MODERATE	None				0.10	1.00	6.32	0.05 0.64536 D	None None None None	NAV2\|0.845516464\|4.74%
PHF21A
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	allllllllllllyblswd	11	rs35646259 dbSNP Clinvar	45986980	3350.0	G	A	.	0/1	242	SYNONYMOUS_CODING	LOW	None	0.00080	0.00080	0.00300				None None	None None None None	PHF21A\|0.926316601\|2.85%
SBF2
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	allllllllllllyblswd	11	rs141330687 dbSNP Clinvar	9878045	722.0	C	T	.	0/1	48	NON_SYNONYMOUS_CODING	MODERATE	None	0.00120	0.00120	0.00316	0.02	0.35	3.96	0.10 0.76482 D	None None None None	SBF2\|0.666536202\|9.49%
SIAE
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	allllllllllllyblswd	11	rs77575510 dbSNP Clinvar	124519664	1258.0	G	A	.	1\|1	41	SYNONYMOUS_CODING	LOW	None	0.00180	0.00180	0.00169				None None	None None None None	SIAE\|0.306369314\|27.14%
SIPA1
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	allllllllllllyblswd	11	rs4930157 dbSNP Clinvar	65415028	172.0	T	G,A	.	1/1	11	SYNONYMOUS_CODING	LOW	None	0.99641	0.99640	0.00423				None None	None None None None	SIPA1\|0.038573291\|66.27%
SUV420H1
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	allllllllllllyblswd	11	rs369781629 dbSNP Clinvar	67926277	2428.0	G	A	.	0/1	182	SYNONYMOUS_CODING	LOW	None							None None	None None None None	SUV420H1\|0.399660563\|20.8%
TRPC6
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	allllllllllllyblswd	11	rs145077205 dbSNP Clinvar	101342931	596.0	C	A	.	0/1	52	SYNONYMOUS_CODING	LOW	None	0.00160	0.00419	0.00323				None None	None None None None	TRPC6\|0.710147935\|8.23%
UNC93B1
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	allllllllllllyblswd	11	rs144399212 dbSNP Clinvar	67766704	1237.0	G	A	.	0\|1	94	NON_SYNONYMOUS_CODING	MODERATE	None	0.00280	0.00280	0.00201	0.03	0.99	5.22	None None	None None None None	UNC93B1\|0.115133577\|48.28%
	View	allllllllllllyblswd	11	rs146593182 dbSNP Clinvar	67770499	531.0	G	T	.	0/1	45	NON_SYNONYMOUS_CODING	MODERATE	None	0.00280	0.00280	0.00211	0.11	0.22	4.87	None None	None None None None	UNC93B1\|0.115133577\|48.28%
USH1C
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	allllllllllllyblswd	11	rs143160805 dbSNP Clinvar	17531058	501.0	G	A	.	0/1	46	NON_SYNONYMOUS_CODING	MODERATE	None	0.00160	0.00160	0.00046	0.05	0.76	5.84	0.11 0.79469 D	None None None None	USH1C\|0.375960269\|22.32%
ZP1
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	allllllllllllyblswd	11	rs550479 dbSNP Clinvar	60635091	184.0	T	C,A	.	1/1	14	SYNONYMOUS_CODING	LOW	None	0.96326	0.96330	0.02999				None None	None None None None	ZP1\|0.004223059\|86.7%
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	allllllllllllyblswd	11	.	68131443	196.0	TGC	GGG	.	0\|1	29	None	None	None							None None	None None None None	LRP5\|0.688053439\|8.86%
	View	allllllllllllyblswd	11	rs754758534 dbSNP Clinvar	68131445	349.0	C	G	.	0\|1	29	None	None	None							None None	None None None None	LRP5\|0.688053439\|8.86%
	View	allllllllllllyblswd	11	.	68131451	159.0	C	G	.	0\|1	31	None	None	None							None None	None None None None	LRP5\|0.688053439\|8.86%
	View	allllllllllllyblswd	11	rs557158918 dbSNP Clinvar	68133195	278.0	C	G	.	0\|1	45	None	None	None	0.14896	0.14900					None None	None None None None	LRP5\|0.688053439\|8.86%
	View	allllllllllllyblswd	11	rs149346342 dbSNP Clinvar	68530045	1696.0	T	G	.	0/1	122	None	None	None	0.00260	0.00260	0.00069				None None	None None None None	CPT1A\|0.081912568\|54.76%
	View	allllllllllllyblswd	11	rs782770970 dbSNP Clinvar	70348859	25.0	A	C	.	0/1	9	None	None	None							None None	None None None None	SHANK2\|0.132225125\|45.57%
	View	allllllllllllyblswd	11	rs138193444 dbSNP Clinvar	75279883	606.0	T	C	.	0\|1	58	None	None	None	0.00300	0.00300	0.00223				None None	None None None None	SERPINH1\|0.421887911\|19.52%
	View	allllllllllllyblswd	11	rs150295190 dbSNP Clinvar	76829401	1046.0	G	T	.	0/1	59	None	None	None	0.00120	0.00120	0.00070				None None	None None None None	CAPN5\|0.074828783\|56.33%
	View	allllllllllllyblswd	11	rs546175953 dbSNP Clinvar	76873448	995.0	CT	C	.	0/1	65	None	None	None	0.00260	0.00260					None None	None None None None	MYO7A\|0.498616546\|15.89%
	View	allllllllllllyblswd	11	rs374578970 dbSNP Clinvar	76886547	275.0	G	A	.	0/1	24	None	None	None	0.00339	0.00340	0.00082				None None	None None None None	MYO7A\|0.498616546\|15.89%
	View	allllllllllllyblswd	11	rs747284660 dbSNP Clinvar	76892396	558.0	C	T	.	0/1	30	None	None	None							None None	None None None None	MYO7A\|0.498616546\|15.89%
	View	allllllllllllyblswd	11	rs113075052 dbSNP Clinvar	76916493	313.0	G	A	.	0\|1	24	None	None	None	0.00479	0.00479	0.00297				None None	None None None None	MYO7A\|0.498616546\|15.89%
	View	allllllllllllyblswd	11	rs370376552 dbSNP Clinvar	78372468	593.0	G	A	.	0\|1	41	None	None	None							None None	None None None None	TENM4\|0.71881467\|8%
	View	allllllllllllyblswd	11	.	95591646	330.0	G	A	.	0/1	19	None	None	None							None None	None None None None	MTMR2\|0.352025802\|23.95%
	View	allllllllllllyblswd	11	.	108114677	29.0	A	T	.	0/1	11	None	None	None							None None	None None None None	ATM\|0.992666029\|0.97%
	View	allllllllllllyblswd	11	rs866783347 dbSNP Clinvar	117866207	590.0	G	A	.	0/1	44	None	None	None							None None	None None None None	IL10RA\|0.008850497\|81.79%
	View	allllllllllllyblswd	11	rs562012749 dbSNP Clinvar	117983970	1026.0	G	A	.	0/1	76	None	None	None	0.00020	0.00020					None None	None None None None	TMPRSS4\|0.03882021\|66.16%
	View	allllllllllllyblswd	11	rs200047949 dbSNP Clinvar	126279123	491.0	C	T	.	0/1	48	None	None	None	0.00020	0.00020	0.00077				None None	None None None None	ST3GAL4\|0.13130516\|45.71%
	View	allllllllllllyblswd	11	.	126343140	600.0	G	GC	.	0/1	84	None	None	None							None None	None None None None	KIRREL3\|0.826803288\|5.18%
	View	allllllllllllyblswd	11	.	1457376	741.0	C	G	.	0\|1	49	None	None	None							None None	None None None None	BRSK2\|0.058480152\|60.26%
	View	allllllllllllyblswd	11	.	130780269	33.0	C	A	.	0/1	48	None	None	None							None None	None None None None	SNX19\|0.051381343\|62.21%
	View	allllllllllllyblswd	11	rs762353110 dbSNP Clinvar	68338505	38.0	C	T	.	0/1	13	None	None	None							None None	None None None None	PPP6R3\|0.178345904\|39.24%
	View	allllllllllllyblswd	11	.	78565405	118.0	C	G	.	0/1	12	None	None	None							None None	None None None None	TENM4\|0.71881467\|8%
	View	allllllllllllyblswd	11	.	83984349	42.0	G	A	.	0\|1	5	None	None	None							None None	None None None None	DLG2\|0.9849262\|1.29%
	View	allllllllllllyblswd	11	rs951146589 dbSNP Clinvar	2189963	102.0	T	G	.	0\|1	10	None	None	None							None None	None None None None	TH\|0.769890184\|6.58%
	View	allllllllllllyblswd	11	.	46917364	788.0	G	A	.	0/1	40	None	None	None							None None	None None None None	LRP4\|0.507499481\|15.5%
	View	allllllllllllyblswd	11	.	68131451	159.0	CT	GG	.	0\|1	31	None	None	None							None None	None None None None	LRP5\|0.688053439\|8.86%
	View	allllllllllllyblswd	11	rs996109727 dbSNP Clinvar	68131452	375.0	T	G	.	0\|1	30	None	None	None							None None	None None None None	LRP5\|0.688053439\|8.86%
	View	allllllllllllyblswd	11	.	68131514	55.0	C	G	.	1\|0	11	None	None	None							None None	None None None None	LRP5\|0.688053439\|8.86%
	View	allllllllllllyblswd	11	.	1255950	674.0	C	G	.	0\|1	62	None	None	None							None None	None None None None	MUC5B\|0.001251586\|94.15%
	View	allllllllllllyblswd	11	.	763245	16.0	T	C	.	0/1	33	None	None	None							None None	None None None None	TALDO1\|0.142759637\|44.04%
	View	allllllllllllyblswd	11	.	1030388	115.0	T	C	.	0\|1	50	None	None	None							None None	None None None None	MUC6\|0.00166044\|92.04%
	View	allllllllllllyblswd	11	.	1457366	604.0	T	G	.	0/1	59	None	None	None						3.14	None None	None None None None	BRSK2\|0.058480152\|60.26%
	View	allllllllllllyblswd	11	.	1457370	764.0	T	G	.	0\|1	54	None	None	None							None None	None None None None	BRSK2\|0.058480152\|60.26%
	View	allllllllllllyblswd	11	.	1457375	547.0	CC	GG	.	0\|1	52	None	None	None							None None	None None None None	BRSK2\|0.058480152\|60.26%
	View	allllllllllllyblswd	11	.	1457375	547.0	C	G	.	0\|1	52	None	None	None							None None	None None None None	BRSK2\|0.058480152\|60.26%
	View	allllllllllllyblswd	11	rs533017630 dbSNP Clinvar	1457469	330.0	T	G	.	1\|0	18	None	None	None	0.17033	0.17030					None None	None None None None	BRSK2\|0.058480152\|60.26%
	View	allllllllllllyblswd	11	rs201841418 dbSNP Clinvar	1776088	511.0	C	T	.	0/1	32	None	None	None	0.00020	0.00020	0.00015				None None	None None None None	CTSD\|0.098615939\|51.46%
	View	allllllllllllyblswd	11	rs200645077 dbSNP Clinvar	1950271	780.0	G	C	.	0/1	51	None	None	None	0.00040	0.00040	0.00022				None None	None None None None	TNNT3\|0.081518534\|54.88%
	View	allllllllllllyblswd	11	.	2943855	63.0	T	G	.	1\|0	23	None	None	None							None None	None None None None	SLC22A18\|0.031652264\|68.74%
	View	allllllllllllyblswd	11	.	4130945	113.0	G	A	.	0/1	19	None	None	None							None None	None None None None	RRM1\|0.93977129\|2.5%
	View	allllllllllllyblswd	11	rs181593798 dbSNP Clinvar	8724333	347.0	C	T	.	0/1	39	None	None	None	0.00160	0.00160					None None	None None None None	RPL27A\|0.401705602\|20.65%,ST5\|0.586705088\|12.27%
	View	allllllllllllyblswd	11	rs191881363 dbSNP Clinvar	22242778	40.0	T	C	.	0/1	13	None	None	None	0.00020	0.00020					None None	None None None None	ANO5\|0.057436384\|60.57%
	View	allllllllllllyblswd	11	.	31648801	27.0	T	G	.	0/1	9	None	None	None							None None	None None None None	ELP4\|0.730498829\|7.64%
	View	allllllllllllyblswd	11	.	68131514	55.0	CGT	GGG	.	1\|0	11	None	None	None							None None	None None None None	LRP5\|0.688053439\|8.86%
	View	allllllllllllyblswd	11	rs111900320 dbSNP Clinvar	65746408	802.0	G	C	.	0/1	61	None	None	None	0.00240	0.00240					None None	None None None None	SART1\|0.067310801\|58.09%
	View	allllllllllllyblswd	11	.	67406881	436.0	A	C	.	0\|1	24	None	None	None							None None	None None None None	TBX10\|0.045979787\|63.92%
	View	allllllllllllyblswd	11	.	67406885	68.0	T	C	.	0\|1	15	None	None	None							None None	None None None None	TBX10\|0.045979787\|63.92%
	View	allllllllllllyblswd	11	.	68131520	123.0	T	G	.	1\|0	11	None	None	None							None None	None None None None	LRP5\|0.688053439\|8.86%
	View	allllllllllllyblswd	11	.	68131431	59.0	C	G	.	0/1	29	None	None	None							None None	None None None None	LRP5\|0.688053439\|8.86%
	View	allllllllllllyblswd	11	.	68131437	227.0	C	G	.	0\|1	31	None	None	None							None None	None None None None	LRP5\|0.688053439\|8.86%
	View	allllllllllllyblswd	11	.	68131437	227.0	CGA	GGG	.	0\|1	31	None	None	None							None None	None None None None	LRP5\|0.688053439\|8.86%