Variant Results

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Results for "Vaags2012"

Variant Events: 8

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
CNTN3	F1-003	chr3: 74334560-74334560	C	T	exonic		Paternal	nonsynonymous SNV	NM_020872	c.G2600A	p.R867Q	9.922	0.0318	Vaags2012 E
EP300	F1-003	chr22: 41513727-41513727	G	A	exonic		Paternal	nonsynonymous SNV	NM_001429	c.G631A	p.G211S	17.3	0.0054	Vaags2012 E
CNTNAP3	F1-003	chr9: 39171471-39171471	C	T	exonic		Paternal	nonsynonymous SNV	NM_033655	c.G1228A	p.G410S	1.861	0.0362	Vaags2012 E
FBXO40	F2-003	chr3: 121340620-121340620	T	G	exonic		Paternal	nonsynonymous SNV	NM_016298	c.T344G	p.I115S	12.23	4.0E-4	Vaags2012 E
CNTNAP5	F2-003	chr2: 125669092-125669092	G	A	exonic		Paternal	nonsynonymous SNV	NM_130773	c.G3701A	p.R1234Q	11.91	1.0E-4	Vaags2012 E
PRUNE2	F2-003	chr9: 79324017-79324017	T	C	exonic		Paternal	nonsynonymous SNV	NM_001308047 NM_001308048 NM_015225	c.A3173G c.A3173G c.A3173G	p.E1058G p.E1058G p.E1058G	17.52	-	Vaags2012 E
PDE1C	F2-003	chr7: 32209524-32209524	G	C	exonic		Paternal	nonsynonymous SNV	NM_001191058	c.C181G	p.L61V	18.88	2.608E-5	Vaags2012 E
ARNT2	F2-003	chr15: 80847464-80847464	G	A	exonic		Paternal	nonsynonymous SNV	NM_014862	c.G1148A	p.R383H	19.99	4.135E-5	Vaags2012 E

Source Variant Information

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Paper Information

Title
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Technology
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URL
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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