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SELECT VARIANTS FROM		EXCLUDE VARIANTS FROM
INDIVIDUALS: SNP LIST:	GROUPS: SAVED GENE LIST: GENE LIST:	INDIVIDUALS: EXCLUDE SNP LIST:	EXCLUDE GROUPS: EXCLUDE SAVED GENE LIST: EXCLUDE GENE LIST:
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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 11

Genes:
ABCB7, ASMTL, FAM47B, KDM5C, REPS2, RPGR, SLC25A5, TLR7, UPF3B, WNK3, ZMYM3,

+ Genes associated with diseases 4

Genes at Omim

ABCB7, KDM5C, RPGR, UPF3B,

ABCB7	Anemia, sideroblastic, with ataxia, 301310 (3)
KDM5C	Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)
RPGR	Cone-rod dystrophy, X-linked, 1, 304020 (3) Macular degeneration, X-linked atrophic, 300834 (3) Retinitis pigmentosa 3, 300029 (3) Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3)
UPF3B	Mental retardation, X-linked, syndromic 14, 300676 (3)

Genes at Clinical Genomics Database

ABCB7, KDM5C, RPGR, UPF3B,

ABCB7	Anemia, sideroblastic, and spinocerebellar ataxia
KDM5C	Mental retardation, X-linked, syndromic, Claes-Jensen type
RPGR	Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
UPF3B	Mental retardation, X-linked, syndromic 14

Genes at HGMD

Summary

Number of Variants: 63
Number of Genes: 11

Export to: CSV

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ABCB7
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	X	rs143380072 dbSNP Clinvar	74375987	1244.0	A	G	.	1\|1	43	NON_SYNONYMOUS_CODING	MODERATE	None	0.00132	0.00133	0.00010	0.16	0.00	-0.14	0.03 0.49824 D	None None None None	ABCB7\|0.341130772\|24.77%
ASMTL
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	X	rs200070508 dbSNP Clinvar	1536985	399.0	T	G	.	0/1	28	NON_SYNONYMOUS_CODING	MODERATE	None	0.00080	0.00080	0.00111	0.15	0.04	0.93	0.01 0.15353 T	None None None None	None
	View	allllllllllllyblswd	X	rs199756565 dbSNP Clinvar	1558028	530.0	G	A	.	0/1	46	NON_SYNONYMOUS_CODING	MODERATE	None	0.00100	0.00100	0.00225	0.06	0.96	5.57	0.02 0.45418 T	None None None None	None
	View	allllllllllllyblswd	X	rs192342338 dbSNP Clinvar	1540688	4788.0	C	T	.	0/1	345	NON_SYNONYMOUS_CODING	MODERATE	None	0.00020	0.00020		0.36	0.12	2.32	0.01 0.16482 T	None None None None	None
FAM47B
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	X	rs137944304 dbSNP Clinvar	34962036	2380.0	G	T	.	1\|1	75	NON_SYNONYMOUS_CODING	MODERATE	None	0.00026	0.00026	0.00227	0.56	0.50	-0.34	0.00 0.02159 T	None None None None	FAM47B\|0.000999136\|95.44%
KDM5C
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	X	.	53227024	1944.0	T	G	.	1\|1	55	NON_SYNONYMOUS_CODING	MODERATE	None				0.05	0.12	1.95	0.03 0.55422 D	None None None None	KDM5C\|0.60217231\|11.71%
REPS2
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	X	rs777305301 dbSNP Clinvar	17040377	1409.0	G	A	.	1\|1	45	NON_SYNONYMOUS_CODING	MODERATE	None	0.00026	0.00026		0.02	0.37	4.73	0.37 0.928 D	None None None None	REPS2\|0.187594348\|38.1%
RPGR
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	X	rs765224300 dbSNP Clinvar	38145389	101.0	A	C	.	0/1	40	NON_SYNONYMOUS_CODING	MODERATE	None					0.00	-0.98	None None	None None None None	RPGR\|0.02837199\|70.26%
SLC25A5
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	X	rs80253442 dbSNP Clinvar	118604367	291.0	C	T	.	0\|1	123	SYNONYMOUS_CODING	LOW	None							None None	None None None None	SLC25A5\|0.183724763\|38.57%
	View	allllllllllllyblswd	X	rs201855156 dbSNP Clinvar	118604409	361.0	C	T	.	0\|1	149	SYNONYMOUS_CODING	LOW	None							None None	None None None None	SLC25A5\|0.183724763\|38.57%
	View	allllllllllllyblswd	X	rs116700864 dbSNP Clinvar	118604400	341.0	T	G	.	0\|1	145	SYNONYMOUS_CODING	LOW	None							None None	None None None None	SLC25A5\|0.183724763\|38.57%
TLR7
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	X	rs775736639 dbSNP Clinvar	12905799	3182.0	C	G	.	1\|1	85	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.78	3.35	0.04 0.59489 D	None None None None	TLR7\|0.244259408\|32.07%
UPF3B
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	X	rs143538947 dbSNP Clinvar	118971901	3218.0	C	T	.	1\|1	103	NON_SYNONYMOUS_CODING	MODERATE	None	0.00212	0.00212	0.00208	0.00	0.94	7.04	0.15 0.83265 D	None None None None	UPF3B\|0.233589472\|33.04%
WNK3
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	X	rs782784534 dbSNP Clinvar	54224798	1800.0	A	G	.	1\|1	51	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00	-0.28	0.00 0.01927 T	None None None None	WNK3\|0.211787257\|35.39%
ZMYM3
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	X	.	70466303	129.0	T	G	.	0\|1	26	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ZMYM3\|0.316690939\|26.32%
	View	allllllllllllyblswd	X	.	70466309	164.0	T	G	.	0\|1	28	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ZMYM3\|0.316690939\|26.32%
	View	allllllllllllyblswd	X	rs775826962 dbSNP Clinvar	70466312	317.0	T	G	.	0\|1	27	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ZMYM3\|0.316690939\|26.32%
	View	allllllllllllyblswd	X	rs762163253 dbSNP Clinvar	70466321	326.0	A	G	.	0\|1	23	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ZMYM3\|0.316690939\|26.32%
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	X	.	77086479	110.0	TT...	AC...	.	0/1	7	None	None	None							None None	None None None None	MAGT1\|0.220913711\|34.31%
	View	allllllllllllyblswd	X	.	77086484	145.0	T	C	.	0\|1	7	None	None	None							None None	None None None None	MAGT1\|0.220913711\|34.31%
	View	allllllllllllyblswd	X	.	77126514	877.0	T	C	.	1\|1	28	None	None	None							None None	None None None None	MAGT1\|0.220913711\|34.31%
	View	allllllllllllyblswd	X	.	49845156	41.0	G	T	.	0/1	21	None	None	None							None None	None None None None	CLCN5\|0.568612204\|13.07%
	View	allllllllllllyblswd	X	rs782582204 dbSNP Clinvar	49104810	245.0	T	G	.	0\|1	56	None	None	None							None None	None None None None	CCDC22\|0.132061966\|45.6%
	View	allllllllllllyblswd	X	rs5949076 dbSNP Clinvar	1544322	187.0	G	C,A	.	1/1	100	None	None	None	0.71725	0.71730					None None	None None None None	None
	View	allllllllllllyblswd	X	.	49104806	232.0	A	G	.	0\|1	45	None	None	None							None None	None None None None	CCDC22\|0.132061966\|45.6%
	View	allllllllllllyblswd	X	rs2306736 dbSNP Clinvar	2700027	133.0	T	C,A	.	1/1	22	None	None	None	0.49033	0.49030					None None	None None None None	XG\|0.001578916\|92.42%
	View	allllllllllllyblswd	X	.	12734130	71.0	G	C	.	0/1	13	None	None	None	0.00106						None None	None None None None	FRMPD4\|0.326594938\|25.72%
	View	allllllllllllyblswd	X	.	12734135	87.0	A	C	.	0\|1	13	None	None	None							None None	None None None None	FRMPD4\|0.326594938\|25.72%
	View	allllllllllllyblswd	X	.	49104798	104.0	AGA	GGG	.	0\|1	50	None	None	None							None None	None None None None	CCDC22\|0.132061966\|45.6%
	View	allllllllllllyblswd	X	.	14868852	79.0	C	A	.	0/1	18	None	None	None							None None	None None None None	FANCB\|0.07080547\|57.28%
	View	allllllllllllyblswd	X	.	14868852	79.0	CT	AA	.	0/1	18	None	None	None							None None	None None None None	FANCB\|0.07080547\|57.28%
	View	allllllllllllyblswd	X	.	49075258	104.0	T	G	.	0\|1	26	None	None	None							None None	None None None None	CACNA1F\|0.172930076\|39.96%
	View	allllllllllllyblswd	X	.	18195942	408.0	C	T	.	1\|1	13	None	None	None							None None	None None None None	BEND2\|0.00046264\|98.62%
	View	allllllllllllyblswd	X	.	21985208	200.0	T	A	.	0\|1	10	None	None	None							None None	None None None None	SMS\|0.583211108\|12.45%
	View	allllllllllllyblswd	X	.	47497095	269.0	T	C	.	1\|1	8	None	None	None							None None	None None None None	ELK1\|0.147382607\|43.41%
	View	allllllllllllyblswd	X	.	37653149	17.0	C	A	.	0/1	5	None	None	None							None None	None None None None	CYBB\|0.634611688\|10.63%
	View	allllllllllllyblswd	X	.	37653150	48.0	C	A	.	0/1	5	None	None	None							None None	None None None None	CYBB\|0.634611688\|10.63%
	View	allllllllllllyblswd	X	rs762041412 dbSNP Clinvar	47488904	61.0	A	C	.	0\|1	21	None	None	None							None None	None None None None	CFP\|0.039345456\|66%
	View	allllllllllllyblswd	X	rs755064469 dbSNP Clinvar	41056594	293.0	A	C	.	0/1	30	None	None	None							None None	None None None None	USP9X\|0.885379062\|3.82%
	View	allllllllllllyblswd	X	rs781379769 dbSNP Clinvar	41056599	256.0	A	C	.	0\|1	30	None	None	None							None None	None None None None	USP9X\|0.885379062\|3.82%
	View	allllllllllllyblswd	X	rs776648443 dbSNP Clinvar	47488897	123.0	A	C	.	0/1	23	None	None	None							None None	None None None None	CFP\|0.039345456\|66%
	View	allllllllllllyblswd	X	rs782467768 dbSNP Clinvar	53421651	626.0	T	TC	.	0/1	35	None	None	None							None None	None None None None	SMC1A\|0.539151883\|14.23%
	View	allllllllllllyblswd	X	rs868608412 dbSNP Clinvar	99924392	36.0	T	G	.	0/1	14	None	None	None							None None	None None None None	SRPX2\|0.481043132\|16.71%
	View	allllllllllllyblswd	X	.	43599913	11.0	G	T	.	0/1	14	None	None	None							None None	None None None None	MAOA\|0.148857367\|43.16%
	View	allllllllllllyblswd	X	rs782810169 dbSNP Clinvar	76778935	311.0	T	A	.	1\|1	12	None	None	None	0.00026	0.00026					None None	None None None None	ATRX\|0.768191445\|6.65%
	View	allllllllllllyblswd	X	rs75055277 dbSNP Clinvar	107169309	23.0	C	T	.	0/1	8	None	None	None							None None	None None None None	MID2\|0.667791586\|9.45%
	View	allllllllllllyblswd	X	rs866990271 dbSNP Clinvar	107844758	14.0	C	T	.	0/1	16	None	None	None							None None	None None None None	COL4A5\|0.684108995\|8.97%
	View	allllllllllllyblswd	X	.	41077546	130.0	G	T	.	0/1	29	None	None	None							None None	None None None None	USP9X\|0.885379062\|3.82%
	View	allllllllllllyblswd	X	.	41077546	130.0	GG	TT	.	0/1	29	None	None	None							None None	None None None None	USP9X\|0.885379062\|3.82%
	View	allllllllllllyblswd	X	rs757192076 dbSNP Clinvar	41056606	241.0	G	C	.	0\|1	32	None	None	None							None None	None None None None	USP9X\|0.885379062\|3.82%
	View	allllllllllllyblswd	X	rs878985381 dbSNP Clinvar	14868853	178.0	T	A	.	0\|1	19	None	None	None							None None	None None None None	FANCB\|0.07080547\|57.28%
	View	allllllllllllyblswd	X	rs755649538 dbSNP Clinvar	131231457	222.0	C	A	.	0/1	40	None	None	None	0.02596	0.02596					None None	None None None None	FRMD7\|0.288627702\|28.47%
	View	allllllllllllyblswd	X	rs866923895 dbSNP Clinvar	131231459	153.0	A	C	.	0\|1	39	None	None	None							None None	None None None None	FRMD7\|0.288627702\|28.47%
	View	allllllllllllyblswd	X	.	152960369	158.0	T	C	.	0\|1	29	None	None	None							None None	None None None None	SLC6A8\|0.371353511\|22.63%
	View	allllllllllllyblswd	X	.	152960374	64.0	T	C	.	0\|1	29	None	None	None							None None	None None None None	SLC6A8\|0.371353511\|22.63%
	View	allllllllllllyblswd	X	rs2266885 dbSNP Clinvar	153038661	141.0	G	C,A	.	1/2	9	None	None	None	0.83258	0.83260	0.18570				None None	None None None None	PLXNB3\|0.0327359\|68.27%
	View	allllllllllllyblswd	X	rs5989605 dbSNP Clinvar	153422067	111.0	T	C,A	.	1/1	25	None	None	None	0.13166	0.13170					None None	None None None None	OPN1LW\|0.035400156\|67.35%
	View	allllllllllllyblswd	X	.	53222050	288.0	TA	CC	.	0/1	27	None	None	None							None None	None None None None	KDM5C\|0.60217231\|11.71%
	View	allllllllllllyblswd	X	rs782759489 dbSNP Clinvar	154133314	20.0	G	A	.	0/1	10	None	None	None							None None	None None None None	F8\|0.260190683\|30.72%
	View	allllllllllllyblswd	X	.	53222051	131.0	A	C	.	0\|1	27	None	None	None							None None	None None None None	KDM5C\|0.60217231\|11.71%
	View	allllllllllllyblswd	X	rs782275907 dbSNP Clinvar	53222055	268.0	G	C	.	0\|1	28	None	None	None							None None	None None None None	KDM5C\|0.60217231\|11.71%
	View	allllllllllllyblswd	X	.	123195593	38.0	C	T	.	0/1	13	None	None	None							None None	None None None None	STAG2\|0.660771035\|9.67%
	View	allllllllllllyblswd	X	rs866189210 dbSNP Clinvar	129162898	38.0	A	G	.	0/1	33	None	None	None							None None	None None None None	BCORL1\|0.202266088\|36.48%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 11

+ Genes associated with diseases 4

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ABCB7

ASMTL

FAM47B

KDM5C

REPS2

RPGR

SLC25A5

TLR7

UPF3B

WNK3

ZMYM3

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