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SELECT VARIANTS FROM		EXCLUDE VARIANTS FROM
INDIVIDUALS: sample NA00002 NA00003 sample NA00002 NA00003 SNP LIST:	GROUPS: SAVED GENE LIST: GENE LIST:	INDIVIDUALS: sample NA00002 NA00003 sample NA00002 NA00003 EXCLUDE SNP LIST:	EXCLUDE GROUPS: EXCLUDE SAVED GENE LIST: EXCLUDE GENE LIST:
SELECT INHERITANCE: RECESSIVE HOMOZYGOUS RECESSIVE COMPOUND HETEROZYGOUS DOMINANT HETEROZYGOUS X-LINKED RECESSIVE HEMIZYGOUS X-LINKED DOMINANT HETEROZYGOUS
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:

MUTATION TYPE: HOMOZYGOUS (Ex. 1/1, 2/1, 1/2) HETEROZYGOUS (Ex. 0/1, 0/2, 1/0, 2/0)	CHR: POS:	. PASS
VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
CDS CHROMOSOME LARGE DELETION CODON CHANGE CODON INSERTION CODON CHANGE PLUS CODON INSERTION CODON DELETION CODON CHANGE PLUS CODON DELETION DOWNSTREAM EXON EXON DELETED FRAME SHIFT GENE INTERGENIC INTERGENIC CONSERVED INTRAGENIC INTRON INTRON CONSERVED MICRO RNA NON SYNONYMOUS CODING NON SYNONYMOUS START NON SYNONYMOUS STOP RARE AMINO ACID SPLICE SITE ACCEPTOR SPLICE SITE DONOR SPLICE SITE REGION SPLICE SITE BRANCH SPLICE SITE BRANCH U12 STOP LOST START GAINED START LOST STOP GAINED SYNONYMOUS CODING SYNONYMOUS START SYNONYMOUS STOP TRANSCRIPT REGULATION UPSTREAM UTR 3 PRIME UTR 3 DELETED UTR 5 PRIME UTR 5 DELETED	NONE SILENT MISSENSE NONSENSE	HIGH MODERATE MODIFIER LOW
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

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 1
Number of Genes: 0

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