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

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1000 GENOMES FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES	DBSNP FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN DBSNP	ESP6500 FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
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+ Genes 25

Genes:
ACIN1, C8orf59, CCDC66, CNDP1, CPS1, DDHD1, FAM83G, GREB1L, LHCGR, LURAP1L, MAGI1, MUC13, MYO5B, NCOR2, OR51V1, OVGP1, PDE11A, PRUNE2, RALY, RBM23, RTTN, SERINC2, SGK223, SPATA21, ZNF714,

+ Genes associated with diseases 7

Genes at Omim

CPS1, DDHD1, GREB1L, LHCGR, MYO5B, PDE11A, RTTN,

CPS1	Carbamoylphosphate synthetase I deficiency, 237300 (3) {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3) {Venoocclusive disease after bone marrow transplantation} (3)
DDHD1	Spastic paraplegia 28, autosomal recessive, 609340 (3)
GREB1L	Renal hypodysplasia/aplasia 3, 617805 (3)
LHCGR	Leydig cell adenoma, somatic, with precocious puberty, 176410 (3) Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3) Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3) Luteinizing hormone resistance, female, 238320 (3) Precocious puberty, male, 176410 (3)
MYO5B	Microvillus inclusion disease, 251850 (3)
PDE11A	Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
RTTN	Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)

Genes at Clinical Genomics Database

CPS1, LHCGR, MYO5B, PDE11A, RTTN,

CPS1	Carbamoylphosphate synthetase I deficiency
LHCGR	Leydig cell hypoplasia type I Leydig cell hypoplasia type II Luteinizing hormone resistance, female Precocious puberty, male
MYO5B	Diarrhea 2, with microvillus atrophy
PDE11A	Pigmented nodular adrenocortical disease, primary, 2
RTTN	Microcephaly, short stature, and polymicrogyria with or without seizures

Genes at HGMD

Summary

Number of Variants: 25
Number of Genes: 25

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ACIN1
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	sp16_820	14	rs34870944 dbSNP Clinvar	23548787	25.0	C	CG...	PASS	0/1	63	CODON_INSERTION	MODERATE	None							None None	None None None None	ACIN1\|0.717450786\|8.04%
C8orf59
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	sp16_820	8	rs112611553 dbSNP Clinvar	86126827	181.938	C	CA...	PASS	1/1	34	CODON_INSERTION	MODERATE	None	0.99720	0.99720	0.00399				None None	None None None None	E2F5\|0.388960651\|21.48%,C8orf59\|0.106330723\|49.9%
CCDC66
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	sp16_820	3	rs112267342 dbSNP Clinvar	56650054	450.687	T	TCTC	PASS	1/1	101	CODON_INSERTION	MODERATE	None			0.58959				None None	None None None None	CCDC66\|0.050930369\|62.39%
CNDP1
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	sp16_820	18	rs10663835,rs60017744 dbSNP Clinvar	72223591	25.1829	G	GTGC	PASS	0/1	154	CODON_INSERTION	MODERATE	None							None None	None None None None	CNDP1\|0.024865105\|71.86%
CPS1
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	sp16_820	2	rs61509952 dbSNP Clinvar	211421452	57.2694	A	ATCT	PASS	0/1	231	CODON_INSERTION	MODERATE	None	0.47704	0.47700	0.46149				None None	None None None None	CPS1\|0.827402852\|5.16%
DDHD1
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	sp16_820	14	rs140904345,rs55671452 dbSNP Clinvar	53619480	133.283	T	TG...	PASS	1/1	45	CODON_INSERTION	MODERATE	None	0.78534	0.78530					None None	None None None None	DDHD1\|0.165614738\|40.86%
FAM83G
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	sp16_820	17	rs538676818 dbSNP Clinvar	18874685	23.7883	C	CGGT	PASS	0/1	112	CODON_INSERTION	MODERATE	None	0.65176	0.65180	0.40464				None None	None None None None	SLC5A10\|0.040169483\|65.72%,FAM83G\|0.025838834\|71.41%
GREB1L
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	sp16_820	18	rs34960489,rs10654340 dbSNP Clinvar	19100758	69.3413	A	ATCT	PASS	0/1	45	CODON_INSERTION	MODERATE	None	0.99541	0.99540	0.00367				None None	None None None None	GREB1L\|0.672050705\|9.33%
LHCGR
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	sp16_820	2	rs376653903 dbSNP Clinvar	48982755	50.0	G	GG...	PASS	0/1	124	CODON_INSERTION	MODERATE	None	0.14457	0.14460	0.19675				None None	None None None None	STON1-GTF2A1L\|0.070736992\|57.3%,LHCGR\|0.657366853\|9.81%
LURAP1L
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	sp16_820	9	rs139315731,rs3833707 dbSNP Clinvar	12775861	51.049	T	TG...	PASS	1/1	16	CODON_INSERTION	MODERATE	None							None None	None None None None	LURAP1L\|0.198109841\|36.91%
MAGI1
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	sp16_820	3	rs142043619,rs773463513 dbSNP Clinvar	65425560	79.4451	T	TCTG	PASS	1/1	32	CODON_INSERTION	MODERATE	None		0.00340					None None	None None None None	MAGI1\|0.767705528\|6.67%
MUC13
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	sp16_820	3	rs10630030,rs397759224 dbSNP Clinvar	124646705	265.231	A	AAAG	PASS	1/1	57	CODON_INSERTION	MODERATE	None	0.98602	0.98600	0.01334				None None	None None None None	MUC13\|0.000146036\|99.87%
MYO5B
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	sp16_820	18	rs397841722 dbSNP Clinvar	47405425	50.8486	T	TGAG	PASS	0/1	99	CODON_INSERTION	MODERATE	None	0.40475	0.40480	0.30170				None None	None None None None	MYO5B\|0.123721802\|46.86%
NCOR2
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	sp16_820	12	rs879061669 dbSNP Clinvar	124887058	75.3141	G	GGCT	PASS	0/1	65	CODON_INSERTION	MODERATE	None	0.30651	0.30650					None None	None None None None	NCOR2\|0.460506037\|17.66%
OR51V1
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	sp16_820	11	rs574256417 dbSNP Clinvar	5221318	81.0265	T	TA...	PASS	0/1	108	CODON_INSERTION	MODERATE	None	0.00399	0.00399					None None	None None None None	OR51V1\|0.004653668\|86.28%
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	sp16_820	1	rs879255376 dbSNP Clinvar	111957523	122.246	G	GG...	PASS	1/1	24	CODON_INSERTION	MODERATE	None							None None	None None None None	OVGP1\|0.014727644\|77.35%
PDE11A
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	sp16_820	2	rs3830637,rs397723704 dbSNP Clinvar	178494173	418.871	G	GGGA	PASS	1/1	79	CODON_INSERTION	MODERATE	None	0.58766	0.58770	0.40711				None None	None None None None	PDE11A\|0.740114937\|7.36%
PRUNE2
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	sp16_820	9	rs11267622 dbSNP Clinvar	79324135	50.0	A	AT...	PASS	0/1	92	CODON_INSERTION	MODERATE	None	0.50320	0.50320	0.47869				None None	None None None None	PRUNE2\|0.26380863\|30.4%
RALY
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	sp16_820	20	rs10649600 dbSNP Clinvar	32664864	999.222	C	CCAG	PASS	1/1	186	CODON_INSERTION	MODERATE	None							None None	None None None None	RALY\|0.302394222\|27.46%
RBM23
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	sp16_820	14	rs61680322,rs397812315 dbSNP Clinvar	23371255	196.376	G	GGGC	PASS	1/1	89	CODON_INSERTION	MODERATE	None		0.52240					None None	None None None None	RBM23\|0.17375413\|39.82%
RTTN
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	sp16_820	18	rs74941514 dbSNP Clinvar	67863850	479.62	T	TCTC	PASS	1/1	86	CODON_INSERTION	MODERATE	None	0.95268	0.95270	0.04596				None None	None None None None	RTTN\|0.045017499\|64.2%
SERINC2
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	sp16_820	1	rs3050461,rs5773362 dbSNP Clinvar	31905889	275.097	A	ACAG	PASS	1/1	67	CODON_INSERTION	MODERATE	None	0.73902	0.73900					None None	None None None None	SERINC2\|0.042418006\|64.98%
SGK223
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	sp16_820	8	rs150979349,rs59372311 dbSNP Clinvar	8234868	320.589	C	CG...	PASS	1/1	93	CODON_INSERTION	MODERATE	None	0.59505	0.59500					None None	None None None None	None
SPATA21
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	sp16_820	1	rs139527123,rs80260069 dbSNP Clinvar	16727305	61.1324	G	GCTT	PASS	0/1	63	CODON_INSERTION	MODERATE	None	0.09924	0.09924	0.15567				None None	None None None None	SPATA21\|0.007064392\|83.42%
ZNF714
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	sp16_820	19	rs36125838,rs57999210 dbSNP Clinvar	21299774	356.18	T	TATA	PASS	1/1	77	CODON_INSERTION	MODERATE	None	0.84145	0.84150	0.14029				None None	None None None None	ZNF714\|0.001187991\|94.48%

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FREQUENCIES

SCORES

+ Genes 25

+ Genes associated with diseases 7

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ACIN1

C8orf59

CCDC66

CNDP1

CPS1

DDHD1

FAM83G

GREB1L

LHCGR

LURAP1L

MAGI1

MUC13

MYO5B

NCOR2

OR51V1

OVGP1

PDE11A

PRUNE2

RALY

RBM23

RTTN

SERINC2

SGK223

SPATA21

ZNF714

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