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by_sample

a-xavier edited this page Sep 12, 2019 · 1 revision

-- by_sample report

By using the tag --by_sample with the analyse or sort option, you will generate a report that will show for each sample the 5 most probably pathogenic variants.

This obviously requires multi-sample vcf.

Example

Sample_9
Chr Start End Ref Alt Allele ExonicFunc.refGene Gene.refGene Probability_Path Prediction_ACMG_tapes
17 7574017 7574017 C T T missense_variant TP53 0.9999 Pathogenic
17 7574017 7574017 C T T missense_variant TP53 0.9999 Pathogenic
13 32953932 32953932 T A A stop_gained BRCA2 0.9999 Pathogenic
17 7574017 7574017 C T T missense_variant TP53 0.9999 Pathogenic
14 45606305 45606305 G A A stop_gained FANCM 0.9998 Pathogenic
Sample_12
Chr Start End Ref Alt Allele ExonicFunc.refGene Gene.refGene Probability_Path Prediction_ACMG_tapes
13 32968863 32968863 C G G stop_gained BRCA2 1 Pathogenic
17 59793412 59793412 G A A stop_gained BRIP1 1 Pathogenic
17 7574017 7574017 C T T missense_variant TP53 0.9999 Pathogenic
17 7574017 7574017 C T T missense_variant TP53 0.9999 Pathogenic
17 7574017 7574017 C T T missense_variant TP53 0.9999 Pathogenic

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