Variant Results

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Results for "ENG"

Variant Events: 9

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
ENG	JASD_Fam0125	chr9: 130578257-130578257	A	G	exonic		De novo	nonsynonymous SNV	NM_000118 NM_001114753 NM_001278138	c.T1817C c.T1817C c.T1271C	p.L606P p.L606P p.L424P	21.0	-	Takata2018 E
ENG	2-0063-005	chr9: 130586758-130586769	GTCACTGTGTGA	G	intronic		De novo					-	0.004	Yuen2017 G
ENG	SSC08374	chr9: 130580991-130580991	G	C	intronic		De novo					-	-	Fu2022 E Lim2017 E
ENG	SP0026155	chr9: 130581764-130581764	G	A	intronic		De novo					-	-	Fu2022 E
ENG	AU066206	chr9: 130585122-130585138	TTTTGTTTGTTTGTTTG	TTTTGTTTGTTTG	intronic		De novo					-	-	Yuen2017 G
ENG	NDAR_INVUH366DLU_wes1	chr9: 130587303-130587303	C	G	intronic		De novo					-	-	Fu2022 E Kosmicki2017 E Satterstrom2020 E
ENG	2-0063-003	chr9: 130586758-130586769	GTCACTGTGTGA	G	intronic		De novo					-	0.004	Yuen2017 G
ENG	SSC06711	chr9: 130587537-130587537	G	A	exonic		De novo	synonymous SNV	NM_000118 NM_001114753 NM_001278138	c.C789T c.C789T c.C243T	p.I263I p.I263I p.I81I	-	-	Fu2022 E
ENG	13730.p1	chr9: 130580991-130580991	G	C	intronic		De novo					-	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 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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