Variant Results

or

Results for "EXOC4"

Variant Events: 99

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

EXOC4

1-0339-004

chr7:
133754085-133754085

T

TCTTCCTTCTCCC

intergenic

De novo

-

Yuen2017 G

EXOC4

1-0593-003

chr7:
133382956-133382956

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

7-0044-003

chr7:
133253816-133253816

T

A

intronic

De novo

-

Yuen2017 G

EXOC4

1-0464-003

chr7:
133623305-133623305

C

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

EXOC4

1-0533-003

chr7:
133681777-133681777

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

1-0708-003

chr7:
133026992-133026992

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

2-1425-004

chr7:
133380854-133380855

TC

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

2-1337-003

chr7:
133595740-133595740

A

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

EXOC4

AU3858303

chr7:
132958291-132958291

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

AU034904

chr7:
133263198-133263198

C

T

intronic

De novo

-

Yuen2017 G

EXOC4

AU060004

chr7:
133536905-133536905

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

1-0336-003

chr7:
133210653-133210653

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

2-1814-003

chr7:
133002444-133002444

C

CT

intronic

De novo

-

Trost2022 G

EXOC4

AU2310301

chr7:
133022270-133022270

A

G

intronic

De novo

-

Trost2022 G

EXOC4

1-0133-003

chr7:
132991829-132991829

G

C

intronic

De novo

-

Trost2022 G

EXOC4

1-0188-003

chr7:
132998088-132998088

C

G

intronic

De novo

-

Trost2022 G

EXOC4

SP0007038

chr7:
133041090-133041090

A

G

exonic

De novo

nonsynonymous SNV

NM_001037126
NM_021807

c.A770G
c.A770G

p.E257G
p.E257G

9.625

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

EXOC4

4-0062-003

chr7:
132954811-132954811

G

T

intronic

De novo

-

Trost2022 G

EXOC4

REACH000681

chr7:
132966972-132966972

T

C

intronic

De novo

-

Trost2022 G

EXOC4

REACH000001

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

EXOC4

4-0062-003

chr7:
133098938-133098938

T

A

intronic

De novo

-

Trost2022 G

EXOC4

MSSNG00334-003

chr7:
133076846-133076846

C

T

intronic

De novo

-

Trost2022 G

EXOC4

AU2328301

chr7:
133080626-133080626

G

GT

intronic

De novo

-

Trost2022 G

EXOC4

1-1054-003

chr7:
133056578-133056578

C

T

intronic

De novo

-

Trost2022 G

EXOC4

1-0599-005

chr7:
133056623-133056623

A

T

intronic

De novo

-

Trost2022 G

EXOC4

1-0714-003

chr7:
133031264-133031264

A

G

intronic

De novo

-

Trost2022 G

EXOC4

3-0708-000

chr7:
133040122-133040123

TT

AA

intronic

De novo

-

Trost2022 G

EXOC4

1-0354-006

chr7:
133801511-133801520

CAGGGGCCCG

C

intergenic

De novo

-

Yuen2017 G

EXOC4

MSSNG00004-004

chr7:
133221832-133221832

T

C

intronic

De novo

-

Trost2022 G

EXOC4

AU066404

chr7:
133242975-133242975

C

T

intronic

De novo

-

Trost2022 G

EXOC4

7-0470-003

chr7:
133170689-133170689

A

C

intronic

De novo

-

Trost2022 G

EXOC4

1-1022-003A

chr7:
133195691-133195691

A

G

intronic

De novo

-

Trost2022 G

EXOC4

3-0471-000

chr7:
133167436-133167436

G

A

intronic

De novo

-

Trost2022 G

EXOC4

2-1818-003

chr7:
133168194-133168194

G

A

intronic

De novo

-

Trost2022 G

EXOC4

3-0772-000

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

EXOC4

SJD_49.3

chr7:
133166395-133166395

A

G

intronic

De novo

-

Trost2022 G

EXOC4

5-5159-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

EXOC4

MT_47.3

chr7:
133457971-133457971

A

C

intronic

De novo

-

Trost2022 G

EXOC4

AU2310301

chr7:
133396940-133396940

C

T

intronic

De novo

-

Trost2022 G

EXOC4

MSSNG00085-003

chr7:
133410190-133410190

G

A

intronic

De novo

-

Trost2022 G

EXOC4

3-0709-000

chr7:
133373274-133373274

T

G

intronic

De novo

-

Trost2022 G

EXOC4

A10

chr7:
133718101-133718101

G

A

intronic

De novo

-

Wu2018 G

EXOC4

2-1632-003

chr7:
133192685-133192685

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

1-0278-003A

chr7:
133389048-133389048

G

A

intronic

De novo

-

Trost2022 G

EXOC4

7-0160-003

chr7:
133738846-133738846

G

A

intronic

De novo

-

Yuen2017 G

EXOC4

AU2698301

chr7:
133320338-133320338

G

A

intronic

De novo

-

Trost2022 G

EXOC4

MSSNG00433-003

chr7:
133323849-133323849

C

T

intronic

De novo

-

Trost2022 G

EXOC4

1-0455-004

chr7:
133519362-133519362

G

A

intronic

De novo

-

Trost2022 G

EXOC4

5-5237-005

chr7:
133526840-133526840

T

G

intronic

De novo

-

Trost2022 G

EXOC4

1-0079-008

chr7:
133517924-133517927

CAAT

AGGCAG

intronic

De novo

-

Trost2022 G

EXOC4

2-1408-003

chr7:
133517924-133517927

CAAT

AGGCA

intronic

De novo

-

Trost2022 G

EXOC4

MT_33.3

chr7:
133511367-133511367

G

A

intronic

De novo

-

Trost2022 G

EXOC4

2-1702-004

chr7:
133301469-133301469

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

AU2089302

chr7:
133151869-133151869

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

2-1377-003

chr7:
133517924-133517927

CAAT

AGGCAG

intronic

De novo

-

Trost2022 G

EXOC4

7-0011-003

chr7:
133668074-133668074

C

CA

intronic

De novo

-

Trost2022 G

EXOC4

MT_186.4

chr7:
133738587-133738587

T

C

intronic

De novo

-

Trost2022 G

EXOC4

4-0014-003

chr7:
133586930-133586930

A

C

intronic

De novo

-

Trost2022 G

EXOC4

REACH000359

chr7:
133635311-133635311

T

A

intronic

De novo

-

Trost2022 G

EXOC4

AU0039303

chr7:
133349749-133349749

G

A

intronic

De novo

-

Yuen2017 G

EXOC4

MSSNG00332-003

chr7:
133563670-133563670

G

T

intronic

De novo

-

Trost2022 G

EXOC4

4-0014-003

chr7:
133582874-133582874

C

T

intronic

De novo

-

Trost2022 G

EXOC4

MSSNG00045-003

chr7:
133528114-133528114

C

G

intronic

De novo

-

Trost2022 G

EXOC4

1-1008-003

chr7:
133539893-133539893

T

A

intronic

De novo

-

Trost2022 G

EXOC4

2-1421-003

chr7:
133717792-133717792

A

G

intronic

De novo

-

Yuen2017 G

EXOC4

2-0300-004

chr7:
133570318-133570318

T

TTAGC

intronic

De novo

-

Yuen2017 G

EXOC4

SP0034444

chr7:
133689803-133689803

C

T

exonic

De novo

synonymous SNV

NM_021807

c.C2487T

p.S829S

-

5.0E-4

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

EXOC4

1018

chr7:
133743913-133743913

C

T

intronic

De novo

-

Trost2022 G

EXOC4

2-1730-003

chr7:
133631958-133631958

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

2-1085-003

chr7:
133291780-133291780

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

AU006804

chr7:
133306379-133306379

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

5-0148-003

chr7:
133517127-133517127

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

AU1404301

chr7:
133253480-133253480

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

1-0629-003

chr7:
133569192-133569192

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

2-0307-003

chr7:
132945321-132945321

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

AU2333302

chr7:
133091823-133091823

C

G

intronic

De novo

-

Yuen2017 G

EXOC4

1-0246-004

chr7:
133277930-133277930

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

1-0190-003

chr7:
133365465-133365465

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

2-0088-003

chr7:
133338206-133338206

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

7-0095-003

chr7:
133545671-133545671

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

2-1146-003

chr7:
133188189-133188189

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

A7

chr7:
133650203-133650203

T

C

intronic

De novo

-

Wu2018 G

EXOC4

5-0061-003

chr7:
133275916-133275916

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

3-0446-000

chr7:
133560780-133560780

T

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

EXOC4

1-0304-003

chr7:
133689775-133689775

A

G

exonic

De novo

nonsynonymous SNV

NM_021807

c.A2459G

p.D820G

20.1

8.247E-6

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

EXOC4

1-0433-003

chr7:
133298263-133298263

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

AU024004

chr7:
133225488-133225488

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

AU1987304

chr7:
133471668-133471668

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

SP0081664

chr7:
133622797-133622797

T

G

exonic

De novo

synonymous SNV

NM_021807

c.T2181G

p.A727A

-

Fu2022 E
Trost2022 G
Zhou2022 GE

EXOC4

SP0069241

chr7:
133692395-133692395

G

A

intronic

De novo

-

2.631E-5

Fu2022 E
Trost2022 G

EXOC4

AU071203

chr7:
133636289-133636289

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

1-0278-003

chr7:
133389048-133389048

G

A

intronic

De novo

-

Yuen2016 G

EXOC4

12175.p1

chr7:
132982269-132982269

C

T

intronic

De novo

-

Turner2016 G

EXOC4

12449.p1

chr7:
133705175-133705175

C

T

intronic

De novo

-

Turner2016 G

EXOC4

1-0321-004

chr7:
133441383-133441383

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

1-0483-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

2-1505-003

chr7:
133515827-133515827

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

AU0786305

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

EXOC4

AU4423303

chr7:
133117998-133117998

C

G

intronic

De novo

-

Trost2022 G
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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