Exomiser Analysis Results for Slartibartfast

Analysis Settings

Settings used for this analysis:

ExomiserSettings{vcfFilePath=Pfeiffer.vcf, pedFilePath=null, prioritiser=exomiser-mouse, maximumFrequency=1.0, minimumQuality=0.0, geneticInterval=null, removePathFilterCutOff=false, removeDbSnp=false, removeOffTargetVariants=true, candidateGene=, modeOfInheritance=AUTOSOMAL_DOMINANT, diseaseId=OMIM:101600, hpoIds=[], seedGeneList=[], numberOfGenesToShow=0, outFileName=results/Pfeiffer-exomiser-results, outputFormat=[HTML], diseaseGeneFamilyName=, buildVersion=, buildTimestamp=}

Filtering Summary

Filter Report Passed filter Failed filter
Frequency Filter
    Allele frequency < 1.00 %
16916 20793

Variant Type Distribution

Variant Type Slartibartfast
MISSENSE 1

Analyzed samples

//if there is a multi-sample pedigree we want to see the analysis: //HTMLTable.writePedigreeTable()

affected: red, parent of affected: light blue, unaffected: white

if (this.pedigree.isNthPersonAffected(i)) { } else if (this.pedigree.isNthPersonParentOfAffected(i)) { } else { }
Sample name: manuel
famidididfathID mothID sex disease

Prioritised Genes

Exomiser Score: 1.005
Phenotype Score: 1.004
Variant Score: 1.005
MISSENSE chr10:g.123256215T>G [0/1] rs141235720 (variation viewer)
Transcripts:
uc001lfg.4 exon6:c.518A> C:p.E173A
Pathogenicity Data:
1.00
No pathogenicity data
Mutation Taster: 0.999 (P)
Frequency Data:
No frequency data
1000Genomes: 0.02%

Unanalysed Variants

MISSENSE chr10:g.123256215T>G [0/1] rs141235720 (variation viewer)

About

The Exomizer is a Java program that functionally annotates variants from whole-exome sequencing data starting from a VCF file (version 4). The functional annotation code is based on Jannovar and uses UCSC KnownGene transcript definitions and hg19 genomic coordinates

Variants are prioritized according to user-defined criteria on variant frequency, pathogenicity, quality, inheritance pattern, and model organism phenotype data. Predicted pathogenicity data was extracted from the dbNSFP resource.

Developed by the Computational Biology and Bioinformatics group at the Institute for Medical Genetics and Human Genetics of the Charité - Universitätsmedizin Berlin and the Mouse Informatics Group at the Sanger Institute.

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