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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:
HGMD:

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

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

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

OPEN RESULT IN A NEW WINDOW

Genes:
GPR98, OPA1, PNP,

OPA1, PNP,

OPA1	Behr syndrome, 210000 (3) {Glaucoma, normal tension, susceptibility to}, 606657 (3) Optic atrophy 1, 165500 (3) Optic atrophy plus syndrome, 125250 (3) ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3)
PNP	Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)

OPA1, PNP,

OPA1	Glaucoma, normal tension, susceptibility to
PNP	Purine nucleoside phosphorylase deficiency

Number of Variants: 3
Number of Genes: 3

Export to: CSV

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	17-11096s1 germline-multisample gatk annotated 17-11099s1	5	rs73175207 dbSNP Clinvar	90006849	3690.9	G	A	.	0/1	167	None	None	None	0.03155	0.03155	0.02626	0.37	0.03	4.17	None None	rs73175207,rs73175207 2_2,2_2 not_specified_not_provided,not_specified_not_provided None	ADGRV1\|0.328571635\|25.58%
OPA1
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	17-11096s1 germline-multisample gatk annotated 17-11099s1	3	rs7624750 dbSNP Clinvar	193334991	2681.9	G	A	.	0/1	111	None	None	None	0.46805	0.46810	0.49700	0.41	0.00	2.19	None None	rs7624750,rs7624750 2_2,2_2 not_specified_not_provided,not_specified_not_provided None	OPA1\|0.756692356\|6.94%
PNP
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	17-11096s1 germline-multisample gatk annotated 17-11099s1	14	rs1049564 dbSNP Clinvar	20940606	10406.9	G	A	.	1/1	152	None	None	None	0.20467	0.20470	0.20029	0.98	0.00	2.06	None None	rs1049564,rs1049564 2_2,2_2 NUCLEOSIDE_PHOSPHORYLASE_POLYMORPHISM_not_provided,NUCLEOSIDE_PHOSPHORYLASE_POLYMORPHISM_not_provided None	PNP\|0.117411825\|47.87%

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