Variant Results

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Results for "TANGO2"

Variant Events: 6

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
TANGO2	13610.p1	chr22: 20024290-20024290	G	A	UTR5		Mosaic					-	8.239E-6	Dou2017 E
TANGO2	2-1174-006	chr22: 20063270-20063270	A	ACTC	intergenic		De novo					-	-	Yuen2017 G
TANGO2	AU4015303	chr22: 20064678-20064679	TG	T	intergenic		De novo					-	-	Yuen2017 G
TANGO2	1-0534-004	chr22: 20025366-20025366	A	G	intronic		De novo					-	-	Yuen2017 G
TANGO2	1-0467-005	chr22: 20038734-20038734	C	A	intronic		De novo					-	-	Yuen2017 G
TANGO2	3-0368-000	chr22: 20050958-20050958	G	A	exonic		De novo	nonsynonymous SNV	NM_001283179 NM_001283186 NM_001283199 NM_001283235 NM_001283116 NM_001283129 NM_001283148 NM_001283154 NM_152906 NM_001283106	c.G517A c.G517A c.G478A c.G409A c.G703A c.G826A c.G701A c.G701A c.G703A c.G703A	p.G173S p.G173S p.G160S p.G137S p.G235S p.G276S p.R234Q p.R234Q p.G235S p.G235S	27.5	8.747E-6	Tammimies2015 E

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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