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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 4

Genes:
GPR98, LOX, PIK3R1, TGFBI,

+ Genes associated with diseases 3

Genes at Omim

LOX, PIK3R1, TGFBI,

LOX	Aortic aneurysm, familial thoracic 10, 617168 (3)
PIK3R1	Immunodeficiency 36, 616005 (3) SHORT syndrome, 269880 (3) ?Agammaglobulinemia 7, autosomal recessive, 615214 (3)
TGFBI	Corneal dystrophy, Avellino type, 607541 (3) Corneal dystrophy, Groenouw type I, 121900 (3) Corneal dystrophy, Reis-Bucklers type, 608470 (3) Corneal dystrophy, Thiel-Behnke type, 602082 (3) Corneal dystrophy, epithelial basement membrane, 121820 (3) Corneal dystrophy, lattice type I, 122200 (3) Corneal dystrophy, lattice type IIIA, 608471 (3)

Genes at Clinical Genomics Database

PIK3R1, TGFBI,

PIK3R1	Agammaglobulinemia 7, autosomal recessive
TGFBI	Corneal dystrophy, lattice type I Corneal dystrophy, lattice type IIIA Corneal dystrophy of Bowman layer, type I Corneal dystrophy, Avellino type Corneal dystrophy, Reis-Bucklers type Corneal dystrophy, Thiel-Behnke type Corneal dystrophy, Groenouw type I Corneal dystrophy, epithelial basement membrane

Genes at HGMD

Summary

Number of Variants: 58
Number of Genes: 4

Export to: CSV

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GPR98
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	16420_s8	5	rs2438378 dbSNP Clinvar	90119324	100.0	G	A	PASS	1/1	60	NON_SYNONYMOUS_CODING	MODERATE	None	0.97224	0.97220	0.02790	0.25	0.00		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs2366777 dbSNP Clinvar	89943571	100.0	G	T	PASS	0/1	72	NON_SYNONYMOUS_CODING	MODERATE	None	0.81030	0.81030	0.27251	1.00	0.00		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs4916684 dbSNP Clinvar	89979589	100.0	G	A	PASS	0/1	72	NON_SYNONYMOUS_CODING	MODERATE	None	0.80371	0.80370	0.27248	0.89	0.00		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs2247870 dbSNP Clinvar	90151589	100.0	G	A	PASS	1/1	98	NON_SYNONYMOUS_CODING	MODERATE	None	0.45907	0.45910	0.43475	0.08	0.18		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs4916685 dbSNP Clinvar	89979698	73.0	C	T	PASS	0/1	19	NON_SYNONYMOUS_CODING	MODERATE	None	0.33726	0.33730	0.30536	0.08	1.00		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs10037067 dbSNP Clinvar	89985882	100.0	A	G	PASS	0/1	84	NON_SYNONYMOUS_CODING	MODERATE	None	0.34984	0.34980	0.31810	0.01	0.89		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs2366926 dbSNP Clinvar	89988504	100.0	A	G	PASS	0/1	51	NON_SYNONYMOUS_CODING	MODERATE	None	0.32228	0.32230	0.29139	0.05	1.00		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs16876822 dbSNP Clinvar	89989779	100.0	G	A	PASS	0/1	23	SYNONYMOUS_CODING	LOW	None	0.32209	0.32210	0.29030				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs1878878 dbSNP Clinvar	89990324	100.0	A	G	PASS	0/1	66	NON_SYNONYMOUS_CODING	MODERATE	None	0.80851	0.80850	0.26875	1.00	0.00		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs16869042 dbSNP Clinvar	90020923	100.0	T	G	PASS	0/1	123	SYNONYMOUS_CODING	LOW	None			0.29627				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs2366928 dbSNP Clinvar	90024735	100.0	G	A	PASS	0/1	30	NON_SYNONYMOUS_CODING	MODERATE	None	0.82907	0.82910	0.24704	1.00	0.00		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs2438349 dbSNP Clinvar	90052372	100.0	C	T	PASS	0/1	69	SYNONYMOUS_CODING	LOW	None	0.53934	0.53930	0.47965				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs17554631 dbSNP Clinvar	90079820	100.0	A	G	PASS	0/1	32	SYNONYMOUS_CODING	LOW	None	0.09225	0.09225	0.16515				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs2438374 dbSNP Clinvar	90107108	100.0	A	G	PASS	1/1	121	NON_SYNONYMOUS_CODING	MODERATE	None	0.94609	0.94610	0.06388	1.00	0.00		None None	None None None None	ADGRV1\|0.328571635\|25.58%
LOX
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	16420_s8	5	rs1800449 dbSNP Clinvar	121413208	100.0	C	T	PASS	0/1	29	NON_SYNONYMOUS_CODING	MODERATE	None	0.15675	0.15670	0.17534	0.44	0.00		None None	None None None None	LOX\|0.986128219\|1.23%
PIK3R1
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	16420_s8	5	rs3730089 dbSNP Clinvar	67588148	100.0	G	A	PASS	1/1	131	NON_SYNONYMOUS_CODING	MODERATE	None	0.22045	0.22040	0.23828	0.41	0.00		None None	None None None None	PIK3R1\|0.917149804\|3.05%
	View	16420_s8	5	rs706713 dbSNP Clinvar	67522722	100.0	C	T	PASS	1/1	14	SYNONYMOUS_CODING	LOW	None	0.41933	0.41930	0.29333				None None	None None None None	PIK3R1\|0.917149804\|3.05%
TGFBI
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	16420_s8	5	rs4669 dbSNP Clinvar	135392426	100.0	T	C	PASS	0/1	75	SYNONYMOUS_CODING	LOW	None	0.42053	0.42050	0.37555				None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	16420_s8	5	rs1133170 dbSNP Clinvar	135391374	100.0	C	T	PASS	0/1	63	SYNONYMOUS_CODING	LOW	None	0.28015	0.28020	0.28005				None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	16420_s8	5	rs1054124 dbSNP Clinvar	135388663	100.0	A	G	PASS	0/1	29	SYNONYMOUS_CODING	LOW	None	0.38718	0.38720	0.34547				None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	16420_s8	5	rs1442 dbSNP Clinvar	135382989	82.0	G	C	PASS	0/1	13	SYNONYMOUS_CODING	LOW	None	0.31769	0.31770	0.34348				None None	None None None None	TGFBI\|0.999587957\|0.3%
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	16420_s8	5	rs4916683 dbSNP Clinvar	89979380	100.0	T	C	PASS	0/1	34	None	None	None	0.32268	0.32270	0.29722				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs6889640 dbSNP Clinvar	135389425	100.0	C	A	PASS	0/1	25	None	None	None	0.36981	0.36980					None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	16420_s8	5	rs2288393 dbSNP Clinvar	121412890	100.0	C	G	PASS	0/1	39	None	None	None	0.12999	0.13000					None None	None None None None	LOX\|0.986128219\|1.23%
	View	16420_s8	5	rs78389649 dbSNP Clinvar	121412412	100.0	CA	C	PASS	0/1	23	None	None	None	0.28594	0.28590					None None	None None None None	LOX\|0.986128219\|1.23%
	View	16420_s8	5	rs7726023 dbSNP Clinvar	90449031	100.0	T	C	PASS	1/1	32	None	None	None	0.89836	0.89840	0.08332				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs5869534 dbSNP Clinvar	90445830	100.0	T	TC	PASS	0/1	62	None	None	None							None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs35858094 dbSNP Clinvar	90445829	100.0	T	TTC	PASS	0/1	62	None	None	None	0.67372	0.67370					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs13159365 dbSNP Clinvar	135389433	100.0	C	T	PASS	0/1	25	None	None	None	0.36282	0.36280					None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	16420_s8	5	rs6860369 dbSNP Clinvar	135391326	100.0	A	G	PASS	0/1	63	None	None	None	0.40415	0.40420	0.37090				None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	16420_s8	5	rs2072239 dbSNP Clinvar	135392507	100.0	G	A	PASS	0/1	74	None	None	None	0.19529	0.19530	0.17804				None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	16420_s8	5	rs13168506 dbSNP Clinvar	135396452	100.0	A	G	PASS	0/1	36	None	None	None	0.59565	0.59560					None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	16420_s8	5	rs881289 dbSNP Clinvar	90059001	59.0	T	A	PASS	0/1	18	None	None	None	0.72844	0.72840					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs13188659 dbSNP Clinvar	135396468	100.0	T	A	PASS	0/1	36	None	None	None	0.59365	0.59370					None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	16420_s8	5	rs34894132 dbSNP Clinvar	90052263	100.0	T	TC	PASS	0/1	28	None	None	None	0.38518	0.38520					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs5869516 dbSNP Clinvar	90051084	100.0	A	ATCT	PASS	0/1	129	None	None	None							None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs2438339 dbSNP Clinvar	90049238	81.0	A	G	PASS	0/1	24	None	None	None	0.82828	0.82830					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs2438357 dbSNP Clinvar	90041225	100.0	G	A	PASS	0/1	59	None	None	None	0.39257	0.39260					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs6880837 dbSNP Clinvar	135396669	100.0	T	C	PASS	0/1	145	None	None	None	0.59105	0.59110	0.42413				None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	16420_s8	5	rs4916815 dbSNP Clinvar	90021499	100.0	G	T	PASS	0/1	29	None	None	None		0.60260					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs706714 dbSNP Clinvar	67522851	100.0	A	C	PASS	1/1	127	None	None	None	0.42492	0.42490	0.29388				None None	None None None None	PIK3R1\|0.917149804\|3.05%
	View	16420_s8	5	rs7723259 dbSNP Clinvar	90020868	100.0	A	C	PASS	0/1	123	None	None	None	0.79812	0.79810	0.28279				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs6452906 dbSNP Clinvar	90016129	100.0	A	G	PASS	0/1	13	None	None	None	0.79812	0.79810					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs6881412 dbSNP Clinvar	90015792	100.0	C	T	PASS	0/1	17	None	None	None	0.80531	0.80530					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs10067181 dbSNP Clinvar	90012614	100.0	A	T	PASS	0/1	74	None	None	None	0.66414	0.66410					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs7732169 dbSNP Clinvar	90007196	100.0	C	T	PASS	0/1	81	None	None	None	0.66314	0.66310					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs60522638 dbSNP Clinvar	90002220	100.0	C	CT	R5x9	0/1	61	None	None	None							None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs1160121 dbSNP Clinvar	90001988	100.0	G	T	PASS	0/1	29	None	None	None	0.70807	0.70810					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs10942604 dbSNP Clinvar	89993045	100.0	T	C	PASS	0/1	22	None	None	None	0.32049	0.32050					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs10068473 dbSNP Clinvar	89990545	100.0	C	A	PASS	0/1	49	None	None	None	0.00140	0.64720	0.45261				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs758333098 dbSNP Clinvar	67576330	100.0	CT	C	R5x9	0/1	66	None	None	None			0.38101				None None	None None None None	PIK3R1\|0.917149804\|3.05%
	View	16420_s8	5	rs796402339 dbSNP Clinvar	67584512	90.0	AT	A	R5x9	0/1	43	None	None	None							None None	None None None None	PIK3R1\|0.917149804\|3.05%
	View	16420_s8	5	rs3730087 dbSNP Clinvar	67587994	100.0	C	T	PASS	1/1	19	None	None	None	0.64437	0.64440					None None	None None None None	PIK3R1\|0.917149804\|3.05%
	View	16420_s8	5	rs10040165 dbSNP Clinvar	89988412	100.0	G	A	PASS	0/1	32	None	None	None	0.32209	0.32210	0.29178				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs895304 dbSNP Clinvar	67592281	100.0	G	A	PASS	1/1	25	None	None	None	0.30711	0.30710					None None	None None None None	PIK3R1\|0.917149804\|3.05%
	View	16420_s8	5	rs2366771 dbSNP Clinvar	89924976	100.0	C	A	PASS	0/1	88	None	None	None	0.79034	0.79030	0.28226				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs2366773 dbSNP Clinvar	89938587	100.0	C	T	PASS	0/1	127	None	None	None	0.82129	0.82130	0.25136				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	16420_s8	5	rs17169753 dbSNP Clinvar	135385316	100.0	T	C	PASS	0/1	121	None	None	None	0.40655	0.40650	0.36110				None None	None None None None	TGFBI\|0.999587957\|0.3%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 4

+ Genes associated with diseases 3

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

GPR98

LOX

PIK3R1

TGFBI

Langdon's Birthday

Frodo Updated His Profile

Nora Joined Mailing List

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