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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:
NOTCH1, PTEN,

NOTCH1, PTEN,

NOTCH1	Aortic valve disease 1, 109730 (3) Adams-Oliver syndrome 5, 616028 (3)
PTEN	{Glioma susceptibility 2}, 613028 (3) {Meningioma}, 607174 (3) Cowden syndrome 1, 158350 (3) Lhermitte-Duclos syndrome, 158350 (3) Macrocephaly/autism syndrome, 605309 (3) Prostate cancer, somatic, 176807 (3)

NOTCH1, PTEN,

NOTCH1	Aortic valve disease
PTEN	Endometrial cancer Meningioma, familial PTEN hamartoma tumor syndrome Cowden syndrome Bannayan-Riley-Ruvalcaba syndrome Lhermitte-Duclos syndrome Glioma susceptibility 2

Number of Variants: 2
Number of Genes: 2

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