Variant Results

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Results for "OS9"

Variant Events: 4

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
OS9	iHART3230	chr12: 58111706-58111706	C	T	exonic		Paternal	stopgain	NM_001261421 NM_001261422 NM_001261423 NM_001017956 NM_001017957 NM_001017958 NM_001261420 NM_006812	c.C1003T c.C943T c.C922T c.C1099T c.C1099T c.C1099T c.C1102T c.C1099T	p.R335X p.R315X p.R308X p.R367X p.R367X p.R367X p.R368X p.R367X	26.4	-	Ruzzo2019 G
OS9	iHART3227	chr12: 58111706-58111706	C	T	exonic		Paternal	stopgain	NM_001261421 NM_001261422 NM_001261423 NM_001017956 NM_001017957 NM_001017958 NM_001261420 NM_006812	c.C1003T c.C943T c.C922T c.C1099T c.C1099T c.C1099T c.C1102T c.C1099T	p.R335X p.R315X p.R308X p.R367X p.R367X p.R367X p.R368X p.R367X	26.4	-	Ruzzo2019 G
OS9	08C77595	chr12: 58114545-58114545	C	T	intronic		De novo					-	-	Kosmicki2017 E Satterstrom2020 E
OS9	1-0286-004	chr12: 58112146-58112146	G	A	exonic		De novo	nonsynonymous SNV	NM_001261421 NM_001261422 NM_001261423 NM_001017956 NM_001017957 NM_001017958 NM_001261420 NM_006812	c.G1256A c.G1196A c.G1175A c.G1352A c.G1352A c.G1352A c.G1355A c.G1352A	p.R419Q p.R399Q p.R392Q p.R451Q p.R451Q p.R451Q p.R452Q p.R451Q	18.52	8.25E-6	Yuen2015 G Yuen2017 G

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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