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

DBSNP BUILD: EXCLUDE VARIANTS AT VARISNP	READ DEPTH: QUAL:	VARIANTS PER GENE:
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

FREQUENCIES

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
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

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+ Genes 10

Genes:
ANKRD33B, ARHGEF1, CNTNAP3, GGCX, KRT2, MS4A8, SPDYE1, ZNF554, ZNF563, ZNF626,

+ Genes associated with diseases 2

Genes at Omim

GGCX, KRT2,

GGCX	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3) Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3)
KRT2	Ichthyosis bullosa of Siemens, 146800 (3)

Genes at Clinical Genomics Database

GGCX, KRT2,

GGCX	Vitamin K-dependent clotting factors, combined deficiency of, 1 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
KRT2	Ichthyosis bullosa of Siemens Ichthyosis exfoliativa

Genes at HGMD

Summary

Number of Variants: 298
Number of Genes: 10

Export to: CSV

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ANKRD33B
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	wes_0012 hg38	5	.	10650038	22.79	A	G	VeryLowQual	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.14	0.41		None None	None None None None	ANKRD33B\|0.01613202\|76.38%
ARHGEF1
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	wes_0012 hg38	19	.	42402119	25.78	G	C	VeryLowQual	0/1	0	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ARHGEF1\|0.122294725\|47.07%
	View	wes_0012 hg38	19	.	42402121	25.78	C	G	VeryLowQual	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.08	0.99		None None	None None None None	ARHGEF1\|0.122294725\|47.07%
CNTNAP3
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	wes_0012 hg38	9	.	39287979	27.77	C	T	VeryLowQual	0/1	0	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE				0.43	0.14		None None	None None None None	CNTNAP3\|0.003914923\|87.16%
GGCX
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	wes_0012 hg38	2	.	85788528	28.77	T	C	VeryLowQual	0/1	0	SYNONYMOUS_CODING	LOW								None None	None None None None	GGCX\|0.292657535\|28.17%
KRT2
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	wes_0012 hg38	12	.	53045355	27.77	T	A	VeryLowQual	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.00	1.00		None None	None None None None	KRT2\|0.020804285\|73.78%
MS4A8
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	wes_0012 hg38	11	.	60468799	21.77	A	G	VeryLowQual	1/1	0	None	None	None							None None	None None None None	MS4A8\|0.00134462\|93.64%
SPDYE1
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	wes_0012 hg38	7	.	44040854	13.95	G	A	VeryLowQual	0/1	0	SYNONYMOUS_CODING	LOW								None None	None None None None	SPDYE1\|0.001236656\|94.25%
ZNF554
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	wes_0012 hg38	19	.	2820107	29.77	G	A	VeryLowQual	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.35	0.24		None None	None None None None	ZNF554\|0.001605749\|92.31%
ZNF563
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	wes_0012 hg38	19	.	12430004	26.78	G	C	VeryLowQual	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.00	1.00		None None	None None None None	ZNF563\|0.001255239\|94.13%
ZNF626
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	wes_0012 hg38	19	.	20807873	27.77	G	A	VeryLowQual	0/1	0	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ZNF626\|0.001400717\|93.33%
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	wes_0012 hg38	19	.	14827100	21.8	T	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	ZNF333\|0.001391324\|93.38%
	View	wes_0012 hg38	18	.	79950960	29.77	T	C	VeryLowQual	0/1	0		MODIFIER								None None	None None None None	None
	View	wes_0012 hg38	18	.	63328505	28.77	C	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	18	.	36187535	28.77	G	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	17	.	50199194	20.8	G	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	CA10\|0.86384685\|4.4%
	View	wes_0012 hg38	17	.	41723176	28.77	T	C	VeryLowQual	0/1	0	None	None	None							None None	None None None None	MEOX1\|0.35015202\|24.1%
	View	wes_0012 hg38	17	.	41513846	23.79	G	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	16	.	66509747	26.78	A	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	BEAN1\|0.014751978\|77.33%
	View	wes_0012 hg38	16	.	58283054	29.77	C	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	CCDC113\|0.03387208\|67.82%
	View	wes_0012 hg38	15	.	59136912	25.78	G	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	FAM63B\|0.13446142\|45.19%
	View	wes_0012 hg38	15	.	40420538	20.8	T	C	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	15	.	22547047	27.77	C	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	15	.	22433566	26.78	C	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	15	.	22126311	23.79	C	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	14	.	99645228	27.77	G	A	VeryLowQual	0/1	0	MOTIF[MA0079.2:SP1]	MODIFIER								None None	None None None None	BCL11B\|0.583326338\|12.44%
	View	wes_0012 hg38	14	.	89161598	28.77	C	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	EML5\|0.261544154\|30.61%
	View	wes_0012 hg38	14	.	93347380	24.78	C	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	14	.	93347379	24.78	G	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	14	.	67600232	12.99	G	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	GPHN\|0.933743116\|2.69%
	View	wes_0012 hg38	13	.	110713558	25.78	G	C	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	12	.	132582046	22.79	C	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	EP400NL\|0.008590229\|82.06%
	View	wes_0012 hg38	12	.	71701179	20.8	T	C	VeryLowQual	0/1	0	None	None	None							None None	None None None None	TSPAN8\|0.020855803\|73.73%
	View	wes_0012 hg38	12	.	47783290	26.78	A	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	12	.	40488137	24.78	G	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	SLC2A13\|0.157441978\|41.95%
	View	wes_0012 hg38	11	.	74000975	26.78	A	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	P4HA3\|0.142053644\|44.14%
	View	wes_0012 hg38	10	.	133358012	19.81	C	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	10	.	70761419	25.78	T	C	VeryLowQual	0/1	0	None	None	None							None None	None None None None	KIF1BP\|0.530420883\|14.57%
	View	wes_0012 hg38	10	.	42582875	22.79	T	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	10	.	5813262	28.77	G	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	GDI2\|0.399169926\|20.83%
	View	wes_0012 hg38	9	.	135699082	23.79	C	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	AK8\|0.035216111\|67.44%
	View	wes_0012 hg38	9	.	126700284	25.78	A	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	9	.	124951322	29.77	T	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	MORN5\|0.057722394\|60.48%
	View	wes_0012 hg38	9	.	112223705	22.79	T	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	PTPN3\|0.888079599\|3.74%
	View	wes_0012 hg38	9	.	64377602	14.91	T	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	9	.	63818580	17.84	C	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	9	.	63818540	28.77	T	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	9	.	63818535	25.78	T	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	9	.	63817570	22.79	G	C	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	9	.	63817556	28.77	G	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	9	.	63816679	25.78	T	C	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	9	.	62811258	27.77	A	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	9	.	62810714	18.82	C	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	9	.	62809968	21.8	A	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	9	.	62804109	26.78	A	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	8	.	142727249	26.78	T	C	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	8	.	73972295	23.79	G	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	8	.	31640156	17.84	G	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	NRG1\|0.996847066\|0.68%
	View	wes_0012 hg38	8	.	30095394	27.77	A	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	8	.	28568902	27.77	A	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	EXTL3\|0.750894784\|7.06%
	View	wes_0012 hg38	8	.	12551068	26.78	T	C	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	8	.	12437575	17.84	A	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	7	.	101557966	26.78	C	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	CUX1\|0.745995626\|7.2%
	View	wes_0012 hg38	7	.	99279652	29.77	G	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	7	.	65150289	16.86	C	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	7	.	6608275	23.79	C	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	6	.	99404101	26.78	T	C	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	6	.	32659923	22.79	A	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	6	.	32659875	26.78	C	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	6	.	32659869	26.78	A	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	6	.	31560353	18.82	C	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	NCR3\|0.162756468\|41.19%
	View	wes_0012 hg38	6	.	29925724	29.77	A	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	6	.	3259229	20.8	G	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	PSMG4\|0.027056167\|70.84%
	View	wes_0012 hg38	5	.	180803566	25.78	G	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	5	.	160253039	15.88	T	C	VeryLowQual	0/1	0	None	None	None							None None	None None None None	ATP10B\|0.07854889\|55.53%
	View	wes_0012 hg38	5	.	148987008	29.77	T	C	VeryLowQual	0/1	0	None	None	None							None None	None None None None	ARHGEF37\|0.046932636\|63.62%
	View	wes_0012 hg38	4	.	184694378	25.78	A	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	4	.	102900906	17.84	G	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	BANK1\|0.027814487\|70.51%
	View	wes_0012 hg38	4	.	74158074	16.86	T	C	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	4	.	70982232	20.8	G	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	4	.	1012545	25.78	G	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	FGFRL1\|0.054461749\|61.34%
	View	wes_0012 hg38	3	.	197505947	29.77	C	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	FYTTD1\|0.419077854\|19.64%
	View	wes_0012 hg38	3	.	194617172	23.79	T	C	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	3	.	138174902	21.8	G	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	ESYT3\|0.059066597\|60.13%
	View	wes_0012 hg38	3	.	75679106	21.8	G	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	2	.	240589510	19.81	G	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	2	.	240436110	28.77	C	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	2	.	206619518	20.77	C	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	NRP2\|0.898501137\|3.46%
	View	wes_0012 hg38	2	.	128318223	13.95	A	C	VeryLowQual	0/1	0	None	None	None							None None	None None None None	MYO7B\|0.035034714\|67.46%
	View	wes_0012 hg38	2	.	61164596	27.77	A	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	2	.	11133202	21.8	G	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	2	.	6917071	28.77	G	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	1	.	151871920	21.8	C	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	THEM4\|0.00575941\|84.91%
	View	wes_0012 hg38	1	.	111388368	28.77	C	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	1	.	46340757	21.8	A	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	MAST2\|0.140850422\|44.29%
	View	wes_0012 hg38	1	.	42422373	26.78	T	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	HIVEP3\|0.160477454\|41.45%
	View	wes_0012 hg38	1	.	41484616	24.78	G	A	VeryLowQual	0/1	0	None	None	None							None None	None None None None	SLFNL1\|0.019234181\|74.55%
	View	wes_0012 hg38	1	.	20552663	25.78	A	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	21	.	29009605	27.77	A	G	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None
	View	wes_0012 hg38	1	.	19626624	27.77	G	T	VeryLowQual	0/1	0	None	None	None							None None	None None None None	None

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+ Genes 10

+ Genes associated with diseases 2

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ANKRD33B

ARHGEF1

CNTNAP3

GGCX

KRT2

MS4A8

SPDYE1

ZNF554

ZNF563

ZNF626

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