Rare Variants Association Test against the FrEx panel

This page provides a mean to run an Association Test (Burden Test) against the FrEx Panel.
This test is focused on Rare Variants that are supposed to have deleterious effect on the proteic function.

Your criteria :

Enter your Gene name (Symbol) : (ex : "CFTR", "BRCA1", "ABCA1")
Allow Indels
Minimal Quality Allowed	HQ (High Quality) PASS VQSR90.00to99.00 VQSR99.00to99.90 VQSR99.90to100.00
Least Severe Consequence	01.Transcript Ablation 02.Splice Donor 03.Splice Acceptor 04.Stop Gained 05.Frameshift 06.Stop Lost 07.Initiator Codon 08.Transcript Amplification 09.Inframe Insertion 10.Inframe Deletion 11.Missense 12.Splice Region 13.Incomplete Terminal Codon 14.Stop Retained 15.Synonymous 16.Coding Sequence 17.Mature miRNA 18.5' UTR 19.3' UTR 20.Non Coding Transcript Exon 21.Non Coding Exon 22.Intron 23.NMD Transcript 24.Non Coding Transcript 25.Non Coding Transcript 26.Upstream Gene 27.Downstream Gene 28.TFBS Ablation 29.TFBS Amplification 30.TF Binding Site 31.Regulatory Region Ablation 32.Regulatory Region Amplification 33.Regulatory Region 34.Feature Elongation 35.Feature Truncation 36.Intergenic
Max Frequency in FrEx
Max Frequency in GnomAD
Max Frequency in GnomAD_NFE