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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:
SELECT INHERITANCE:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
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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 2

Genes:
COL5A1, TLN1,

+ Genes associated with diseases 1

Genes at Omim

COL5A1,

COL5A1	Ehlers-Danlos syndrome, classic type, 1, 130000 (3)

Genes at Clinical Genomics Database

COL5A1,

COL5A1	Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type II

Genes at HGMD

Summary

Number of Variants: 44
Number of Genes: 2

Export to: CSV

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COL5A1
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	12066_s20	9	rs3124299 dbSNP Clinvar	137619195	100.0	C	T	PASS	0/1	51	SYNONYMOUS_CODING	LOW	None	0.34265	0.34270	0.33215				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs41306391 dbSNP Clinvar	137622249	100.0	C	T	PASS	0/1	58	SYNONYMOUS_CODING	LOW	None	0.10184	0.10180	0.08158				None None	None None None None	COL5A1\|0.207487878\|35.85%
TLN1
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	12066_s20	9	rs2295795 dbSNP Clinvar	35712003	100.0	G	A	PASS	0/1	62	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.20148	0.20150	0.20667	0.12	0.00		None None	None None None None	TLN1\|0.598640538\|11.8%
	View	12066_s20	9	rs56139047 dbSNP Clinvar	35707483	100.0	C	T	PASS	0/1	47	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.00280	0.00280	0.00692				None None	None None None None	TLN1\|0.598640538\|11.8%
	View	12066_s20	9	rs11541908 dbSNP Clinvar	35705759	100.0	G	A	PASS	0/1	79	SYNONYMOUS_CODING	LOW	None	0.16913	0.16910	0.19683				None None	None None None None	TLN1\|0.598640538\|11.8%
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	12066_s20	9	rs10858283 dbSNP Clinvar	137708973	100.0	A	G	PASS	0/1	44	None	None	None	0.46106	0.46110	0.48931				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs10776910 dbSNP Clinvar	137708960	100.0	A	C	PASS	0/1	58	None	None	None	0.46166	0.46170	0.49001				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs3811149 dbSNP Clinvar	137708803	100.0	A	G	PASS	0/1	72	None	None	None	0.59225	0.59230	0.35545				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs3827849 dbSNP Clinvar	137702209	100.0	G	A	PASS	0/1	58	None	None	None	0.43411	0.43410	0.49408				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs3827850 dbSNP Clinvar	137702200	100.0	G	C	PASS	0/1	58	None	None	None	0.45288	0.45290	0.48698				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs142676375,rs368760930 dbSNP Clinvar	137688780	75.0	GC...	G	PASS	0/1	17	None	None	None	0.45747	0.45750	0.35123				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs3811160 dbSNP Clinvar	137688624	68.0	A	G	PASS	0/1	23	None	None	None	0.59685	0.59680	0.44788				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs4072882 dbSNP Clinvar	137687038	100.0	A	G	PASS	0/1	127	None	None	None	0.69389	0.69390	0.34385				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs4072883 dbSNP Clinvar	137686906	100.0	C	T	PASS	0/1	88	None	None	None	0.69169	0.69170	0.34015				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs10776900 dbSNP Clinvar	137660375	100.0	A	G	PASS	1/1	21	None	None	None	0.45387	0.45390	0.37692				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs4842162 dbSNP Clinvar	137660194	100.0	G	T	PASS	1/1	20	None	None	None	0.45567	0.45570	0.37889				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs11103502 dbSNP Clinvar	137646217	100.0	G	A	PASS	0/1	18	None	None	None	0.15955	0.15950	0.15024				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs73558067 dbSNP Clinvar	137645662	100.0	C	T	PASS	0/1	62	None	None	None	0.20907	0.20910	0.20978				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	.	137645648	100.0	TC	CC,CT	PASS	1/2	63	None	None	None							None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs12686426 dbSNP Clinvar	137642577	100.0	T	C	PASS	0/1	59	None	None	None	0.21026	0.21030					None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs41299046 dbSNP Clinvar	137642489	100.0	G	C	PASS	0/1	140	None	None	None	0.07648	0.07648	0.09772				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs12685946 dbSNP Clinvar	137642478	100.0	A	G	PASS	1/1	138	None	None	None	0.29952	0.29950	0.31040				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs3128612 dbSNP Clinvar	137630587	100.0	T	C	PASS	0/1	44	None	None	None	0.56929	0.56930	0.40866				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs3109677 dbSNP Clinvar	137630568	100.0	C	T	PASS	0/1	44	None	None	None	0.56829	0.56830	0.40850				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs3124310 dbSNP Clinvar	137623601	100.0	C	G	PASS	0/1	38	None	None	None	0.70807	0.70810					None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs3109675 dbSNP Clinvar	137623555	100.0	T	C	PASS	0/1	38	None	None	None	0.41933	0.41930	0.37982				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs76548907 dbSNP Clinvar	137623303	100.0	G	A	PASS	0/1	124	None	None	None	0.03894	0.03894	0.03867				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs3128598 dbSNP Clinvar	137622039	100.0	G	A	PASS	0/1	48	None	None	None	0.40875	0.40870	0.37098				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs3124308 dbSNP Clinvar	137622033	100.0	A	G	PASS	0/1	47	None	None	None	0.40815	0.40810	0.37142				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs3124302 dbSNP Clinvar	137620474	100.0	C	T	PASS	0/1	60	None	None	None	0.40895	0.40890	0.37137				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs3124298 dbSNP Clinvar	137618970	100.0	G	A	PASS	0/1	108	None	None	None	0.37660	0.37660					None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs4341231 dbSNP Clinvar	137592961	100.0	T	C	PASS	0/1	65	None	None	None	0.62380	0.62380					None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs72772548 dbSNP Clinvar	137582724	100.0	C	T	PASS	0/1	39	None	None	None	0.04553	0.04553	0.07404				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs306771 dbSNP Clinvar	124091135	100.0	G	A	PASS	1/1	24	None	None	None	0.87001	0.87000	0.21229				None None	None None None None	GSN\|0.728577212\|7.7%
	View	12066_s20	9	rs306769 dbSNP Clinvar	124088768	100.0	T	C	PASS	1/1	40	None	None	None	0.90535	0.90540	0.16385				None None	None None None None	GSN\|0.728577212\|7.7%
	View	12066_s20	9	rs306785 dbSNP Clinvar	124073176	100.0	T	C	PASS	1/1	40	None	None	None	0.88898	0.88900					None None	None None None None	GSN\|0.728577212\|7.7%
	View	12066_s20	9	rs12554062 dbSNP Clinvar	137733937	100.0	T	G	PASS	0/1	65	None	None	None	0.13938	0.13940					None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs2249133 dbSNP Clinvar	35712823	100.0	G	A	PASS	1/1	31	None	None	None	0.56550	0.56550	0.39807				None None	None None None None	TLN1\|0.598640538\|11.8%
	View	12066_s20	9	rs55810625 dbSNP Clinvar	35707338	100.0	G	A	PASS	0/1	47	None	None	None	0.20168	0.20170	0.20906				None None	None None None None	TLN1\|0.598640538\|11.8%
	View	12066_s20	9	rs2295797 dbSNP Clinvar	35722282	100.0	T	C	PASS	0/1	60	None	None	None	0.20587	0.20590					None None	None None None None	TLN1\|0.598640538\|11.8%
	View	12066_s20	9	rs7868111 dbSNP Clinvar	137717610	100.0	T	C	PASS	1/1	54	None	None	None	0.74601	0.74600	0.28802				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs12346222 dbSNP Clinvar	137714710	100.0	A	G	PASS	0/1	34	None	None	None	0.04273	0.04273					None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs9697186 dbSNP Clinvar	137714027	100.0	T	C	PASS	0/1	75	None	None	None	0.60943	0.60940	0.33277				None None	None None None None	COL5A1\|0.207487878\|35.85%
	View	12066_s20	9	rs11792894 dbSNP Clinvar	137709780	100.0	T	C	PASS	0/1	74	None	None	None	0.58227	0.58230					None None	None None None None	COL5A1\|0.207487878\|35.85%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 2

+ Genes associated with diseases 1

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

COL5A1

TLN1

Langdon's Birthday

Frodo Updated His Profile

Nora Joined Mailing List

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