Variant Results

or

Results for "IRF8"

Variant Events: 49

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

IRF8

5-0116-003

chr16:
86154149-86154149

G

T

intergenic

De novo

-

Yuen2017 G

IRF8

2-0090-003

chr16:
86135647-86135647

G

T

intergenic

De novo

-

Yuen2017 G

IRF8

2-1644-003

chr16:
86047427-86047427

T

C

intergenic

De novo

-

Yuen2017 G

IRF8

1-0541-004

chr16:
86047706-86047706

G

A

intergenic

De novo

-

Yuen2017 G

IRF8

2-0090-003

chr16:
86144644-86144644

C

A

intergenic

De novo

-

Yuen2017 G

IRF8

AU4223302

chr16:
86024610-86024610

G

A

intergenic

De novo

-

Yuen2017 G

IRF8

1-0329-004

chr16:
86039940-86039940

C

A

intergenic

De novo

-

Yuen2017 G

IRF8

2-0135-004

chr16:
86047706-86047706

G

A

intergenic

De novo

-

Yuen2017 G

IRF8

1-0079-008

chr16:
86047427-86047427

T

C

intergenic

De novo

-

Yuen2017 G

IRF8

2-0214-003

chr16:
86106571-86106571

C

G

intergenic

De novo

-

Yuen2017 G

IRF8

2-1497-003

chr16:
86164206-86164206

T

C

intergenic

De novo

-

Yuen2017 G

IRF8

2-1318-004

chr16:
86225609-86225609

T

C

intergenic

De novo

-

Yuen2017 G

IRF8

AU1860301

chr16:
86129158-86129158

C

T

intergenic

De novo

-

Yuen2017 G

IRF8

2-1318-004

chr16:
86217146-86217146

T

C

intergenic

De novo

-

Yuen2017 G

IRF8

2-1391-004

chr16:
86047433-86047433

C

CCATCACCATCATCACCATCATCACCTTCACCACCAT

intergenic

De novo

-

Yuen2017 G

IRF8

AU4234302

chr16:
86153039-86153039

C

T

intergenic

De novo

-

Yuen2017 G

IRF8

5-0077-003

chr16:
86173628-86173628

C

T

intergenic

De novo

-

Yuen2017 G

IRF8

1-0201-004

chr16:
86047424-86047424

A

AC

intergenic

De novo

-

Yuen2017 G

IRF8

1-0274-003

chr16:
86047705-86047705

C

CATCATCACTACCACA

intergenic

De novo

-

Yuen2017 G

IRF8

1-0417-003

chr16:
86086032-86086032

C

T

intergenic

De novo

-

Yuen2017 G

IRF8

AU066404

chr16:
86154699-86154699

G

T

intergenic

De novo

-

Yuen2017 G

IRF8

2-0242-005

chr16:
86047427-86047427

T

C

intergenic

De novo

-

Yuen2017 G

IRF8

1-0368-004

chr16:
86047427-86047427

T

C

intergenic

De novo

-

Yuen2017 G

IRF8

AU3809302

chr16:
85942733-85942733

C

T

exonic

De novo

synonymous SNV

NM_002163

c.C312T

p.S104S

-

1.0E-4

Trost2022 G
Yuen2017 G
Zhou2022 GE

IRF8

AU3725302

chr16:
86017504-86017504

C

A

intergenic

De novo

-

Yuen2017 G

IRF8

SSC04771

chr16:
85952187-85952187

G

A

exonic

De novo

nonsynonymous SNV

NM_002163

c.G766A

p.D256N

19.53

8.864E-6

Fu2022 E
Trost2022 G

IRF8

1-0045-003

chr16:
86047427-86047427

T

C

intergenic

De novo

-

Yuen2017 G

IRF8

1-0119-004

chr16:
86047424-86047424

A

ACACCATCACCATCACCAC

intergenic

De novo

-

Yuen2017 G

IRF8

1-0289-004

chr16:
86047427-86047427

T

C

intergenic

De novo

-

Yuen2017 G

IRF8

12429.p1

chr16:
85952187-85952187

G

A

exonic

De novo

nonsynonymous SNV

NM_002163

c.G766A

p.D256N

19.53

8.864E-6

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

IRF8

1-0107-003

chr16:
86004076-86004076

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

IRF8

1-0289-004

chr16:
86047706-86047706

G

A

intergenic

De novo

-

Yuen2017 G

IRF8

2-1594-003

chr16:
86195078-86195078

G

A

intergenic

De novo

-

Yuen2017 G

IRF8

1-0144-004

chr16:
86047706-86047706

G

A

intergenic

De novo

-

Yuen2017 G

IRF8

AU0540301

chr16:
85933144-85933144

G

A

intronic

De novo

-

Yuen2017 G

IRF8

AU4487302

chr16:
86013616-86013616

G

C

intergenic

De novo

-

Yuen2017 G

IRF8

2-1391-003

chr16:
86047420-86047420

T

C

intergenic

De novo

-

Yuen2017 G

IRF8

1-0150-003

chr16:
86047427-86047427

T

C

intergenic

De novo

-

Yuen2017 G

IRF8

1-0683-003

chr16:
86047695-86047695

C

CCATCAT

intergenic

De novo

-

Yuen2017 G

IRF8

1-0763-003

chr16:
86047414-86047414

A

C

intergenic

De novo

-

Yuen2017 G

IRF8

2-1415-004

chr16:
86047427-86047427

T

C

intergenic

De novo

-

Yuen2017 G

IRF8

2-1093-003

chr16:
86047427-86047427

T

C

intergenic

De novo

-

Yuen2017 G

IRF8

AU3399302

chr16:
86046989-86046989

A

T

intergenic

De novo

-

Yuen2017 G

IRF8

2-0070-004

chr16:
86047448-86047448

T

TCACCATCATCACCACCATCACCACC

intergenic

De novo

-

Yuen2017 G

IRF8

2-0307-004

chr16:
86047420-86047420

T

C

intergenic

De novo

-

Yuen2017 G

IRF8

2-1620-003

chr16:
86047695-86047695

C

CCATCAT

intergenic

De novo

-

Yuen2017 G

IRF8

7-0247-003

chr16:
86142317-86142332

TTACTACTACTACTAC

TTACTACTACTAC

intergenic

De novo

-

Yuen2017 G

IRF8

AU060703

chr16:
86226071-86226071

G

A

intergenic

De novo

-

Yuen2017 G

IRF8

2-1283-004

chr16:
86047414-86047414

A

C

intergenic

De novo

-

Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
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.
Variant event count
Curation notes	View
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