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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
AARS2, AK9, C4orf45, CCDC61, CCNT2, CEACAM18, CNOT11, ESPNL, GLI2, GYPE, HRG, HSD17B11, LCE5A, LRRC17, OSGEPL1, OVGP1, PHLDA1, POTEE, PRSS56, PTPN23, SEPSECS, SLC22A14, SLC4A3, SLC7A7, SMPD1, SPATA3, SPRR1A, TGIF1, TGOLN2, TUBGCP6, VARS2,

+ Genes associated with diseases 10

Genes at Omim

AARS2, GLI2, HRG, PRSS56, SEPSECS, SLC7A7, SMPD1, TGIF1, TUBGCP6, VARS2,

AARS2	Combined oxidative phosphorylation deficiency 8, 614096 (3) Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
GLI2	Culler-Jones syndrome, 615849 (3) Holoprosencephaly 9, 610829 (3)
HRG	Thrombophilia due to HRG deficiency, 613116 (3) Thrombophilia due to elevated HRG, 613116 (1)
PRSS56	Microphthalmia, isolated 6, 613517 (3)
SEPSECS	Pontocerebellar hypoplasia type 2D, 613811 (3)
SLC7A7	Lysinuric protein intolerance, 222700 (3)
SMPD1	Niemann-Pick disease, type A, 257200 (3) Niemann-Pick disease, type B, 607616 (3)
TGIF1	Holoprosencephaly 4, 142946 (3)
TUBGCP6	Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
VARS2	Combined oxidative phosphorylation deficiency 20, 615917 (3)

Genes at Clinical Genomics Database

AARS2, GLI2, HRG, PRSS56, SEPSECS, SLC7A7, SMPD1, TGIF1, TUBGCP6, VARS2,

AARS2	Leukoencephalopathy, progressive, with ovarian failure
GLI2	Culler-Jones syndrome
HRG	Thrombophilia due to histidine-rich glycoprotein deficiency
PRSS56	Microphthalmia, isolated 6
SEPSECS	Pontocerebellar hypoplasia, type 2D
SLC7A7	Lysinuric protein intolerance
SMPD1	Niemann-Pick disease, type A Niemann-Pick disease, type B
TGIF1	Holoprosencephaly 4
TUBGCP6	Microcephaly and chorioretinopathy, autosomal recessive 1
VARS2	Combined oxidative phosphorylation deficiency 20

Genes at HGMD

Summary

Number of Variants: 68
Number of Genes: 31

Export to: CSV

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AARS2
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	allfamilies AWJ	6	rs771808127 dbSNP Clinvar	44269192	961.602	TC	T,TT	PASS	1/2	73	FRAME_SHIFT	HIGH	None							None None	None None None None	TMEM151B\|0.178433912\|39.22%,AARS2\|0.089485788\|53.33%
AK9
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	allfamilies AWJ	6	.	109906329	220.18	GC...	GC...	PASS	1/2	25	FRAME_SHIFT	HIGH	None							None None	None None None None	AK9\|0.032678932\|68.3%
C4orf45
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	allfamilies AWJ	4	.	159894304	930.304	CT	C,CC	PASS	1/2	59	FRAME_SHIFT	HIGH	None							None None	None None None None	C4orf45\|0.003496909\|87.79%
CCDC61
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	allfamilies AWJ	19	.	46520025	191.86	CA	C,CG	PASS	1/2	20	FRAME_SHIFT	HIGH	None							None None	None None None None	CCDC61\|0.034771259\|67.54%
CCNT2
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	allfamilies AWJ	2	rs3814355 dbSNP Clinvar	135711516	926.1	C	A,T	PASS	1/2	101	NON_SYNONYMOUS_CODING	MODERATE	None	0.73283	0.73280	0.44741	0.96	0.00		None None	None None None None	CCNT2\|0.701668977\|8.45%
CEACAM18
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	allfamilies AWJ	19	.	51986548	759.35	T	C,TC	PASS	1/2	88	FRAME_SHIFT	HIGH	None							None None	None None None None	CEACAM18\|0.000390777\|98.99%
CNOT11
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	allfamilies AWJ	2	.	101869586	337.84	CCGGG	C,...	PASS	1/2	49	FRAME_SHIFT	HIGH	None							None None	None None None None	CNOT11\|0.296950067\|27.88%
ESPNL
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	allfamilies AWJ	2	.	239039840	568.24	CA	C,CG	PASS	1/2	59	FRAME_SHIFT	HIGH	None							None None	None None None None	ESPNL\|0.012510663\|78.89%
GLI2
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	allfamilies AWJ	2	rs3738880 dbSNP Clinvar	121746956	1214.85	G	C,T	PASS	1/2	104	NON_SYNONYMOUS_CODING	MODERATE	None	0.50899	0.50900	0.37659	0.25	0.42		None None	None None None None	GLI2\|0.838872157\|4.89%
GYPE
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	allfamilies AWJ	4	rs1132785 dbSNP Clinvar	144801662	3093.56	C	G,T	PASS	1/2	295	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.30891	0.30890		1.00	0.00		None None	None None None None	GYPE\|0.000492079\|98.47%
HRG
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	allfamilies AWJ	3	.	186395285	153.77	T	C,TC	PASS	1/2	23	FRAME_SHIFT	HIGH	None							None None	None None None None	HRG\|0.006126069\|84.46%
HSD17B11
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	allfamilies AWJ	4	.	88258477	246.66	AT...	AT...	PASS	1/2	48	FRAME_SHIFT	HIGH	None							None None	None None None None	HSD17B11\|0.055099771\|61.16%
LCE5A
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	allfamilies AWJ	1	rs2105117 dbSNP Clinvar	152484129	2307.89	G	A,C	PASS	1/2	202	NON_SYNONYMOUS_CODING	MODERATE	None	0.52197	0.52200	0.46379	0.11	0.00		None None	None None None None	LCE5A\|0.0103037\|80.64%
LRRC17
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	allfamilies AWJ	7	.	102574714	542.41	TA	T,TG	PASS	1/2	122	FRAME_SHIFT	HIGH	None							None None	None None None None	FBXL13\|0.013552601\|78.17%,LRRC17\|0.102449665\|50.7%
OSGEPL1
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	allfamilies AWJ	2	rs2243876 dbSNP Clinvar	190617643	1677.62	A	G,T	PASS	1/2	148	NON_SYNONYMOUS_CODING	MODERATE	None	0.97025	0.97020	0.03160	0.41	0.00		None None	None None None None	ANKAR\|0.077009513\|55.91%,OSGEPL1\|0.152246988\|42.64%
OVGP1
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	allfamilies AWJ	1	.	111957591	85.24	GA	G,GG	PASS	1/2	9	FRAME_SHIFT	HIGH	None							None None	None None None None	OVGP1\|0.014727644\|77.35%
PHLDA1
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	allfamilies AWJ	12	.	76424937	434.33	TT...	TT...	PASS	1/2	46	NON_SYNONYMOUS_CODING	MODERATE	None							None None	None None None None	PHLDA1\|0.111640566\|48.91%
POTEE
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	allfamilies AWJ	2	rs9973941 dbSNP Clinvar	131976272	209.288	G	C,...	PASS	1/2	19	FRAME_SHIFT	HIGH	None							None None	None None None None	PLEKHB2\|0.091599144\|52.9%,POTEE\|0.001287221\|93.99%
PRSS56
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	allfamilies AWJ	2	rs1550094 dbSNP Clinvar	233385396	889.01	G	A,C	PASS	1/2	78	NON_SYNONYMOUS_CODING	MODERATE	None	0.66574	0.66570		1.00	0.00		None None	None None None None	PRSS56\|0.035384208\|67.36%
PTPN23
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	allfamilies AWJ	3	rs6789730 dbSNP Clinvar	47454399	1013.6	G	A,C	PASS	1/2	45	SYNONYMOUS_CODING	LOW	None	0.00120	0.95470	0.04525				None None	None None None None	PTPN23\|0.042746364\|64.87%
SEPSECS
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	allfamilies AWJ	4	rs767645681 dbSNP Clinvar	25160570	674.17	G	A,GA	PASS	1/2	80	None	None	None							None None	None None None None	SEPSECS\|0.215978435\|34.9%
SLC22A14
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	allfamilies AWJ	3	.	38357959	564.46	GCC	GC...	PASS	1/2	64	FRAME_SHIFT	HIGH	None							None None	None None None None	SLC22A14\|0.001081245\|95%
SLC4A3
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	allfamilies AWJ	2	rs759883814 dbSNP Clinvar	220494117	1640.29	CA	C,CC	PASS	1/2	164	FRAME_SHIFT	HIGH	None							None None	None None None None	SLC4A3\|0.110136469\|49.17%
SLC7A7
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	allfamilies AWJ	14	rs1061040 dbSNP Clinvar	23242828	665.902	T	C,G	PASS	1/2	62	NON_SYNONYMOUS_CODING	MODERATE	None	0.78554	0.78550	0.23082	0.10	0.99		None None	None None None None	SLC7A7\|0.311807291\|26.7%
SMPD1
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	allfamilies AWJ	11	rs3838786,rs558809956 dbSNP Clinvar	6411935	1535.46	TG...	CG...	PASS	1/2	175	NON_SYNONYMOUS_CODING	MODERATE	None							None None	None None None None	SMPD1\|0.395074723\|21.07%
SPATA3
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	allfamilies AWJ	2	rs72362780 dbSNP Clinvar	231861032	1641.38	TC...	T,...	PASS	1/2	134	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None			0.46734				None None	None None None None	SPATA3\|0.001696928\|91.9%
SPRR1A
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	allfamilies AWJ	1	rs1611764 dbSNP Clinvar	152957887	99.27	G	A,C	PASS	1/2	13	NON_SYNONYMOUS_CODING	MODERATE	None	0.00639	0.56110	0.42496	0.22	0.54		None None	None None None None	SPRR1A\|0.049658913\|62.76%
TGIF1
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	allfamilies AWJ	18	rs202189171 dbSNP Clinvar	3452221	1528.73	CCT	C,...	PASS	1/2	173	FRAME_SHIFT	HIGH	None			0.32556				None None	None None None None	TGIF1\|0.263915986\|30.39%
TGOLN2
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	allfamilies AWJ	2	.	85549867	867.72	TA	T,TG	PASS	1/2	94	FRAME_SHIFT+STOP_LOST	HIGH	None							None None	None None None None	TGOLN2\|0.000615886\|97.82%
TUBGCP6
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	allfamilies AWJ	22	.	50659579	81.46	A	AT,T	PASS	1/2	11	FRAME_SHIFT	HIGH	None							None None	None None None None	TUBGCP6\|0.014651762\|77.41%
VARS2
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	allfamilies AWJ	6	.	30892174	432.63	GGCC	GC...	PASS	1/2	67	FRAME_SHIFT	HIGH	None							None None	None None None None	VARS2\|0.057795482\|60.45%
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	allfamilies AWJ	9	rs12378945,rs397715321 dbSNP Clinvar	125932152	285.455	C	CAT,T	PASS	1/2	42	None	None	None							None None	None None None None	STRBP\|0.775336907\|6.43%
	View	allfamilies AWJ	11	.	373408	161.92	AC...	AC...	PASS	1/2	39	None	None	None							None None	None None None None	B4GALNT4\|0.009006111\|81.67%
	View	allfamilies AWJ	15	.	83334160	66.87	CA...	C,...	PASS	1/2	12	None	None	None							None None	None None None None	AP3B2\|0.120743252\|47.33%
	View	allfamilies AWJ	17	.	48445674	1736.44	CC...	CC...	PASS	1/2	176	None	None	None							None None	None None None None	MRPL27\|0.30636825\|27.14%
	View	allfamilies AWJ	19	rs748434532 dbSNP Clinvar	34942871	1135.12	TA	T,TT	PASS	1/2	126	None	None	None							None None	None None None None	UBA2\|0.877822924\|4.01%
	View	allfamilies AWJ	9	rs143654666,rs66758062 dbSNP Clinvar	17308968	900.331	ATG	A,ATA	PASS	1/2	37	None	None	None	0.75679	0.75680					None None	None None None None	CNTLN\|0.534626587\|14.4%
	View	allfamilies AWJ	6	rs140982245,rs60681449 dbSNP Clinvar	29760352	763.39	CG...	C,...	PASS	1/2	97	None	None	None							None None	None None None None	None
	View	allfamilies AWJ	17	rs58862472 dbSNP Clinvar	21318629	1865.05	C	A,T	PASS	1/2	459	None	None	None							None None	None None None None	KCNJ12\|0.437556296\|18.82%
	View	allfamilies AWJ	18	rs138785518,rs769695107,rs71164956 dbSNP Clinvar	52585071	300.068	GA...	GA...	PASS	1/2	23	None	None	None							None None	None None None None	CCDC68\|0.06035994\|59.77%
	View	allfamilies AWJ	1	rs2292990 dbSNP Clinvar	32136168	960.83	G	C,T	PASS	1/2	100	None	None	None	0.34046	0.44370					None None	None None None None	COL16A1\|0.160017905\|41.54%
	View	allfamilies AWJ	Y	rs111569776 dbSNP Clinvar	14958217	256.38	GC	G,GT	PASS	1/2	28	None	None	None							None None	None None None None	None
	View	allfamilies AWJ	1	rs149629319 dbSNP Clinvar	156561557	282.57	G	GG...	PASS	1/2	45	None	None	None			0.58656				None None	None None None None	APOA1BP\|0.065641707\|58.46%
	View	allfamilies AWJ	1	rs765726933,rs796127200,rs796534073 dbSNP Clinvar	204234196	592.25	GGT	G,...	PASS	1/2	86	None	None	None							None None	None None None None	PLEKHA6\|0.252271762\|31.36%
	View	allfamilies AWJ	4	rs7663440 dbSNP Clinvar	122137662	1607.52	T	A,G	PASS	1/2	156	None	None	None	0.87800	0.87800					None None	None None None None	TNIP3\|0.011682267\|79.46%
	View	allfamilies AWJ	7	rs141414617,rs111428978,rs59155248 dbSNP Clinvar	148936762	811.273	A	AC...	PASS	1/2	98	None	None	None	0.95627	0.95630					None None	None None None None	ZNF212\|0.035328624\|67.39%
	View	allfamilies AWJ	9	rs146717258,rs879230600 dbSNP Clinvar	139875318	1198.71	C	CC...	PASS	1/2	172	None	None	None							None None	None None None None	PTGDS\|0.006824526\|83.66%
	View	allfamilies AWJ	10	rs201788665,rs10655220 dbSNP Clinvar	285479	448.76	G	GT...	PASS	1/2	26	None	None	None		0.67470					None None	None None None None	ZMYND11\|0.474328139\|16.99%
	View	allfamilies AWJ	10	rs113752965 dbSNP Clinvar	118897632	88.91	C	A,G	PASS	1/2	11	None	None	None	0.35603	0.35600					None None	None None None None	VAX1\|0.272115223\|29.72%
	View	allfamilies AWJ	11	rs7114672 dbSNP Clinvar	5989415	1257.51	C	A,T	PASS	1/2	90	None	None	None	0.17093	0.17090	0.45883				None None	None None None None	None
	View	allfamilies AWJ	13	.	24470912	72.14	GT	G,GG	PASS	1/2	8	None	None	None							None None	None None None None	C1QTNF9B\|0.013563559\|78.16%
	View	allfamilies AWJ	14	.	65569149	422.888	TC...	TC...	PASS	1/2	68	MOTIF[MA0162.1:Egr1]	LOW	None							None None	None None None None	MAX\|0.956378076\|2.06%
	View	allfamilies AWJ	15	rs199979223,rs869228101 dbSNP Clinvar	42553217	3239.75	AAT	A,...	PASS	1/2	160	None	None	None							None None	None None None None	TMEM87A\|0.238921601\|32.52%
	View	allfamilies AWJ	16	.	88793088	163.31	CCA	C,CCG	PASS	1/2	22	None	None	None							None None	None None None None	PIEZO1\|0.03248512\|68.39%
	View	allfamilies AWJ	7	.	103969194	169.59	CA...	CA...	PASS	1/2	18	None	None	None							None None	None None None None	LHFPL3\|0.842910442\|4.81%
	View	allfamilies AWJ	8	.	145660832	807.66	CG	CA,C	PASS	1/2	146	None	None	None							None None	None None None None	TONSL\|0.023928051\|72.24%
	View	allfamilies AWJ	9	.	132636030	1576.46	CA	C,CG	PASS	1/2	97	None	None	None							None None	None None None None	USP20\|0.195223584\|37.23%
	View	allfamilies AWJ	12	.	78540174	87.38	TA...	TA...	PASS	1/2	10	None	None	None							None None	None None None None	NAV3\|0.397279416\|20.95%
	View	allfamilies AWJ	13	rs766564344 dbSNP Clinvar	95673938	1472.71	TA	T,TG	PASS	1/2	116	None	None	None							None None	None None None None	ABCC4\|0.142494523\|44.07%
	View	allfamilies AWJ	19	.	46522458	221.08	C	CG,G	PASS	1/2	51	None	None	None							None None	None None None None	CCDC61\|0.034771259\|67.54%,PGLYRP1\|0.002959162\|88.69%
	View	allfamilies AWJ	22	.	21822773	60.27	CT	C,CG	PASS	1/2	7	None	None	None							None None	None None None None	None
	View	allfamilies AWJ	3	.	67048761	1075.89	GT	G,GC	PASS	1/2	87	None	None	None							None None	None None None None	KBTBD8\|0.289143141\|28.41%
	View	allfamilies AWJ	3	rs757292952 dbSNP Clinvar	193272442	580.77	CG...	CG...	PASS	1/2	46	None	None	None							None None	None None None None	ATP13A4\|0.189604914\|37.86%
	View	allfamilies AWJ	4	rs10006580 dbSNP Clinvar	138449812	924.29	C	A,G	PASS	1/2	87	None	None	None	0.55252	0.55250	0.46517				None None	None None None None	PCDH18\|0.125724219\|46.53%
	View	allfamilies AWJ	5	.	79773021	318.51	AT...	AT...	PASS	1/2	78	None	None	None							None None	None None None None	ZFYVE16\|0.119859967\|47.47%
	View	allfamilies AWJ	5	.	180669135	395.97	TC	T,TT	PASS	1/2	29	None	None	None							None None	None None None None	GNB2L1\|0.768626328\|6.64%
	View	allfamilies AWJ	5	.	177715580	573.34	CT	C,CC	PASS	1/2	54	None	None	None							None None	None None None None	COL23A1\|0.040571917\|65.58%
	View	allfamilies AWJ	6	rs2153156 dbSNP Clinvar	10882100	959.38	G	A,T	PASS	1/2	86	None	None	None	0.98562	0.98560					None None	None None None None	SYCP2L\|0.010875292\|80.19%,GCM2\|0.049608573\|62.79%