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

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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD SHOW ONLY VARIANTS PRESENT AT HGMD

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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

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SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

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Genes:
ACIN1, AK5, AMOT, ANLN, ART5, C8orf59, CCDC66, CDK11A, CDRT4, CEACAM21, CNDP1, CPS1, FAM187A, FAM83G, FMO2, GPRIN2, HCLS1, HSPBP1, IGHV4-4, KRT4, KRTAP9-1, LTF, MUC13, MUC4, MYO5B, PDE11A, PRUNE2, RBM23, RTTN, SAMD4A, SERINC2, SPAG1, SRA1, SYNJ1, TSPYL1, ZNF714, ZNF772, ZNF816,

+ Genes associated with diseases 9

Genes at Omim

ANLN, CPS1, KRT4, MYO5B, PDE11A, RTTN, SPAG1, SYNJ1, TSPYL1,

ANLN	Focal segmental glomerulosclerosis 8, 616032 (3)
CPS1	Carbamoylphosphate synthetase I deficiency, 237300 (3) {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3) {Venoocclusive disease after bone marrow transplantation} (3)
KRT4	White sponge nevus 1, 193900 (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)
SPAG1	Ciliary dyskinesia, primary, 28, 615505 (3)
SYNJ1	Epileptic encephalopathy, early infantile, 53, 617389 (3) Parkinson disease 20, early-onset, 615530 (3)
TSPYL1	Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)

Genes at Clinical Genomics Database

ANLN, CPS1, KRT4, MYO5B, PDE11A, RTTN, TSPYL1,

ANLN	Focal segmental glomerulosclerosis 8
CPS1	Carbamoylphosphate synthetase I deficiency
KRT4	White sponge nevus 1
MYO5B	Diarrhea 2, with microvillus atrophy
PDE11A	Pigmented nodular adrenocortical disease, primary, 2
RTTN	Microcephaly, short stature, and polymicrogyria with or without seizures
TSPYL1	46, XY disorder of sex development Sudden infant death with dysgenesis of the testes syndrome

Genes at HGMD

Summary

Number of Variants: 38
Number of Genes: 38

Export to: CSV

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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	gt_so_4086_igt_1r	14	.	23548787	217.468	CG...	CG...	.	0/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	ACIN1\|0.717450786\|8.04%
AK5
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	gt_so_4086_igt_1r	1	.	78024345	217.468	CTATT	CT...	.	0/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	AK5\|0.166834889\|40.71%
AMOT
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	gt_so_4086_igt_1r	X	.	112022297	214.458	CAGGA	CA...	.	1/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	AMOT\|0.349674275\|24.15%
ANLN
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	gt_so_4086_igt_1r	7	.	36447349	214.458	AC...	AC...	.	1/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	ANLN\|0.180116375\|39.04%
ART5
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	gt_so_4086_igt_1r	11	.	3661585	214.458	ATGG	AT...	.	1/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	ART5\|0.101580058\|50.85%
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	gt_so_4086_igt_1r	8	.	86126827	214.458	CAAC	CA...	.	1/1	0	CODON_INSERTION	MODERATE	None							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	gt_so_4086_igt_1r	3	.	56650051	214.458	AC...	AC...	.	1/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	CCDC66\|0.050930369\|62.39%
CDK11A
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	gt_so_4086_igt_1r	1	.	1647893	217.468	CT...	CT...	.	0/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	CDK11A\|0.02662445\|71.07%
CDRT4
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	gt_so_4086_igt_1r	17	.	15343524	214.458	CC...	CC...	.	1/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	CDRT4\|0.004182794\|86.77%,TVP23C-CDRT4\|0.094111436\|52.33%,TVP23C\|0.109991284\|49.2%
CEACAM21
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	gt_so_4086_igt_1r	19	.	42083739	217.468	AGAC	AG...	.	0/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	CEACAM21\|0.000460252\|98.64%
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	gt_so_4086_igt_1r	18	.	72223591	217.468	GT...	GT...	.	0/1	0	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	gt_so_4086_igt_1r	2	.	211421452	217.468	ATC	AT...	.	0/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	CPS1\|0.827402852\|5.16%
FAM187A
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	gt_so_4086_igt_1r	17	rs35098586 dbSNP Clinvar	42981239	217.468	G	GAGT	.	0/1	0	CODON_INSERTION	MODERATE	None	0.25599	0.25600					None None	None None None None	CCDC103\|0.035653539\|67.25%,FAM187A\|0.067468693\|58.02%
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	gt_so_4086_igt_1r	17	.	18874685	217.468	CGGT	CG...	.	0/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	SLC5A10\|0.040169483\|65.72%,FAM83G\|0.025838834\|71.41%
FMO2
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	gt_so_4086_igt_1r	1	.	171162551	217.468	TGAC	TG...	.	0/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	FMO2\|0.07234096\|56.93%
GPRIN2
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	gt_so_4086_igt_1r	10	.	46999591	217.468	CA...	CA...	.	0/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	GPRIN2\|0.008107767\|82.54%
HCLS1
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	gt_so_4086_igt_1r	3	.	121351315	217.468	gg...	gG...	.	0/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	HCLS1\|0.153988686\|42.41%
HSPBP1
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	gt_so_4086_igt_1r	19	.	55790886	214.458	AG...	AG...	.	1/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	HSPBP1\|0.08555301\|54.04%
IGHV4-4
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	gt_so_4086_igt_1r	14	.	106478311	217.468	AC	AC...	.	0/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	None
KRT4
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	gt_so_4086_igt_1r	12	.	53207583	88.9725	CC...	CC...	.	1/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	KRT4\|0.094749162\|52.19%
KRTAP9-1
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	gt_so_4086_igt_1r	17	.	39346595	125.458	TG...	TG...	.	1/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	KRTAP9-1\|0.001839367\|91.43%
LTF
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	gt_so_4086_igt_1r	3	.	46501284	214.458	CCT	CC...	.	1/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	LTF\|0.008447646\|82.21%
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	gt_so_4086_igt_1r	3	.	124646705	214.458	AAAG	AA...	.	1/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	MUC13\|0.000146036\|99.87%
MUC4
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	gt_so_4086_igt_1r	3	.	195512373	217.468	GGATG	GG...	.	0/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	MUC4\|0.005441696\|85.29%
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	gt_so_4086_igt_1r	18	.	47405425	217.468	TGAG	TG...	.	0/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	MYO5B\|0.123721802\|46.86%
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	gt_so_4086_igt_1r	2	.	178494173	217.468	GG...	GG...	.	0/1	0	CODON_INSERTION	MODERATE	None							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	gt_so_4086_igt_1r	9	.	79324135	217.468	AT...	AT...	.	0/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	PRUNE2\|0.26380863\|30.4%
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	gt_so_4086_igt_1r	14	.	23371255	217.468	GG...	GG...	.	0/1	0	CODON_INSERTION	MODERATE	None							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	gt_so_4086_igt_1r	18	.	67863850	214.458	TCTCC	TC...	.	1/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	RTTN\|0.045017499\|64.2%
SAMD4A
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	gt_so_4086_igt_1r	14	.	55169050	217.468	CCAGC	CC...	.	0/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	SAMD4A\|0.668629366\|9.41%
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	gt_so_4086_igt_1r	1	.	31905889	217.468	AC...	AC...	.	0/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	SERINC2\|0.042418006\|64.98%
SPAG1
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	gt_so_4086_igt_1r	8	rs56246127 dbSNP Clinvar	101206459	217.468	A	AGAC	.	0/1	0	CODON_INSERTION	MODERATE	None	0.15036	0.15040	0.15681				None None	None None None None	SPAG1\|0.055472579\|61.06%
SRA1
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	gt_so_4086_igt_1r	5	.	139931628	217.468	A	AGTC	.	0/1	0	CODON_INSERTION	MODERATE	None			0.38734				None None	None None None None	SRA1\|0.179022986\|39.14%
SYNJ1
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	gt_so_4086_igt_1r	21	.	34003928	217.468	AA	AA...	.	0/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	SYNJ1\|0.15926278\|41.69%
TSPYL1
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	gt_so_4086_igt_1r	6	.	116600465	217.468	tc...	tC...	.	0/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	DSE\|0.823278071\|5.23%,TSPYL1\|0.00455159\|86.36%
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	gt_so_4086_igt_1r	19	.	21299774	214.458	TAT	TA...	.	1/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	ZNF714\|0.001187991\|94.48%
ZNF772
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	gt_so_4086_igt_1r	19	.	57988666	217.468	AG...	AG...	.	0/1	0	CODON_INSERTION	MODERATE	None							None None	None None None None	ZNF772\|0.002951942\|88.73%
ZNF816
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	gt_so_4086_igt_1r	19	rs33949217 dbSNP Clinvar	53454475	217.468	C	CACT	.	0/1	0	CODON_INSERTION	MODERATE	None	0.46506	0.46510	0.45550				None None	None None None None	ZNF816\|0.000923354\|95.92%,ZNF321P\|0.001360128\|93.55%