Variant Results

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Results for "Chen2017a"

Variant Events: 5

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported
DEAF1	561320	chr11: 686925-686925	C	G	exonic		De novo	nonsynonymous SNV	NM_021008	c.G737C	p.R246T	23.3	-	Chen2017a T
DEAF1	M2647	chr11: 686962-686962	A	T	exonic		De novo	nonsynonymous SNV	NM_021008	c.T700A	p.W234R	17.98	-	Chen2017a T
DEAF1	538820	chr11: 681047-681050	TCTT	T	exonic		De novo	nonframeshift deletion	NM_021008	c.910_912del	p.304_304del	-	-	Chen2017a T
DEAF1	563832	chr11: 686871-686871	T	G	exonic		De novo	nonsynonymous SNV	NM_021008	c.A791C	p.Q264P	17.12	-	Chen2017a T
DEAF1	597158	chr11: 687941-687941	C	T	exonic		De novo	nonsynonymous SNV	NM_001293634 NM_021008	c.G634A c.G634A	p.G212S p.G212S	34.0	-	Chen2017a T

Source Variant Information

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Paper Information

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Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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