Variant Results

or

Results for "TRAPPC9"

Variant Events: 105

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

TRAPPC9

2-1619-004

chr8:
140750510-140750510

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

2-0018-004

chr8:
140827693-140827693

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

2-0142-004

chr8:
140783555-140783555

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

2-0098-003

chr8:
141167195-141167195

G

A

intronic

De novo

-

Yuen2017 G

TRAPPC9

AU049304

chr8:
140963732-140963732

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

AU3763305

chr8:
140931000-140931000

G

A

intronic

De novo

-

Yuen2017 G

TRAPPC9

2-0158-003

chr8:
141157359-141157359

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

2-0270-004

chr8:
141497721-141497721

C

T

intergenic

De novo

-

Yuen2017 G

TRAPPC9

SP0038084

chr8:
141321393-141321393

C

T

exonic

De novo

nonsynonymous SNV

NM_001160372
NM_031466

c.G1576A
c.G1870A

p.G526S
p.G624S

23.3

1.649E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

TRAPPC9

1-0671-003

chr8:
140827252-140827252

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

SP0117521

chr8:
140744346-140744346

G

A

exonic

De novo

nonsynonymous SNV

NM_001160372
NM_031466

c.C3155T
c.C3449T

p.P1052L
p.P1150L

13.65

2.919E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

TRAPPC9

SP0060414

chr8:
141321447-141321447

C

G

exonic

De novo

nonsynonymous SNV

NM_001160372
NM_031466

c.G1522C
c.G1816C

p.E508Q
p.E606Q

8.819

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TRAPPC9

1-0004-003

chr8:
141173120-141173120

T

TTTTACATTATTTGTAAAA

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

1-0271-003

chr8:
141250393-141250393

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

1-0186-005

chr8:
140832287-140832287

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

AU4032306

chr8:
140743396-140743396

G

A

exonic

De novo

nonsynonymous SNV

NM_001160372
NM_031466

c.C3355T
c.C3649T

p.R1119W
p.R1217W

19.12

2.508E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

TRAPPC9

AU4212303

chr8:
140967265-140967265

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

AU4007302

chr8:
141029143-141029143

T

C

intronic

De novo

-

Yuen2017 G

TRAPPC9

mAGRE4464

chr8:
141468476-141468477

CT

C

exonic

Maternal

frameshift deletion

NM_031466

c.187delA

p.R63fs

-

Cirnigliaro2023 G

TRAPPC9

2-0129-005

chr8:
141438492-141438492

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

mAGRE5118

chr8:
141034059-141034059

G

A

exonic

Maternal

stopgain

NM_001160372
NM_031466

c.C2674T
c.C2968T

p.R892X
p.R990X

38.0

8.237E-6

Cirnigliaro2023 G

TRAPPC9

mAGRE5775

chr8:
140999046-140999046

T

A

splicing

Maternal

splicing

13.91

-

Cirnigliaro2023 G

TRAPPC9

AU3913302

chr8:
140895941-140895941

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

Li2017:27906

chr8:
141468504-141468504

T

TC

exonic

Unknown

frameshift insertion

NM_031466

c.159dupG

p.S54fs

-

Li2017 T

TRAPPC9

AU3761301

chr8:
140848668-140848668

C

T

intronic

De novo

-

Yuen2017 G

TRAPPC9

EGAN00001100975

chr8:
141445247-141445247

T

G

exonic

De novo

nonsynonymous SNV

NM_001160372
NM_031466

c.A823C
c.A1117C

p.T275P
p.T373P

13.08

6.658E-5

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TRAPPC9

Li2017:28507

chr8:
141461249-141461249

C

T

exonic

Unknown

nonsynonymous SNV

NM_001160372
NM_031466

c.G224A
c.G518A

p.R75H
p.R173H

32.0

8.239E-6

Li2017 T

TRAPPC9

1-0022-004

chr8:
140875159-140875159

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

AU0636303

chr8:
140973196-140973196

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

AU4235303

chr8:
140812601-140812601

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

3-0065-000

chr8:
141305949-141305949

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

1-1000-003

chr8:
141182725-141182745

CGCAGCAGCAGCAGCAGCAGC

CGCAGCAGCAGCAGCAGC

intronic

De novo

-

Yuen2017 G

TRAPPC9

1-0068-003

chr8:
140889944-140889944

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

AU4013302

chr8:
141516602-141516602

G

C

intergenic

De novo

-

Yuen2017 G

TRAPPC9

1-0051-004

chr8:
140840455-140840456

AC

TAT

intronic

De novo

-

Trost2022 G

TRAPPC9

1-0051-005

chr8:
140840455-140840456

AC

TAT

intronic

De novo

-

Trost2022 G

TRAPPC9

AU3951301

chr8:
140759765-140759765

C

T

intronic

De novo

-

Trost2022 G

TRAPPC9

2-1359-003

chr8:
141192380-141192380

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

5-5146-005

chr8:
140764469-140764469

A

ACATCTACC

intronic

De novo

-

Trost2022 G

TRAPPC9

14196_p1

chr8:
141468396-141468396

G

A

exonic

De novo

nonsynonymous SNV

NM_031466

c.C268T

p.R90C

13.71

-

Fu2022 E

TRAPPC9

1-0903-003

chr8:
140755739-140755739

A

T

intronic

De novo

-

Trost2022 G

TRAPPC9

MSSNG00005-003

chr8:
140920805-140920805

A

G

intronic

De novo

-

Trost2022 G

TRAPPC9

10-0001-003

chr8:
140969723-140969723

G

C

intronic

De novo

-

Trost2022 G

TRAPPC9

AC02-1124-01

chr8:
141381255-141381255

G

A

exonic

De novo

nonsynonymous SNV

NM_001160372
NM_031466

c.C1159T
c.C1453T

p.R387C
p.R485C

22.3

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TRAPPC9

MSSNG00027-003

chr8:
140894203-140894203

T

C

intronic

De novo

-

Trost2022 G

TRAPPC9

MSSNG00128-003

chr8:
140913817-140913817

A

G

intronic

De novo

-

Trost2022 G

TRAPPC9

3-0533-000

chr8:
140879530-140879532

GAC

G

intronic

De novo

-

Trost2022 G

TRAPPC9

5-5146-005

chr8:
140881439-140881439

A

C

intronic

De novo

-

Trost2022 G

TRAPPC9

MSSNG00013-003

chr8:
140875052-140875052

G

A

intronic

De novo

-

Trost2022 G

TRAPPC9

7-0374-003

chr8:
140878137-140878137

G

T

intronic

De novo

-

Trost2022 G

TRAPPC9

3-0090-001

chr8:
141089062-141089062

T

C

intronic

De novo

-

Trost2022 G

TRAPPC9

2-1727-003

chr8:
141103887-141103887

A

C

intronic

De novo

-

Trost2022 G

TRAPPC9

1-1047-003

chr8:
140990391-140990391

C

T

intronic

De novo

-

Trost2022 G

TRAPPC9

13697.p1

chr8:
141436659-141436659

T

C

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E

TRAPPC9

1-0104-003

chr8:
140991086-140991086

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

MT_70.3

chr8:
141009840-141009840

C

T

intronic

De novo

-

Trost2022 G

TRAPPC9

14196.p1

chr8:
141468396-141468396

G

A

exonic

De novo

nonsynonymous SNV

NM_031466

c.C268T

p.R90C

13.71

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TRAPPC9

SJD_71.3

chr8:
140971307-140971307

C

T

intronic

De novo

-

Trost2022 G

TRAPPC9

MSSNG00019-004A

chr8:
140971551-140971551

A

G

intronic

De novo

-

Trost2022 G

TRAPPC9

2-1179-003

chr8:
140971307-140971307

C

T

intronic

De novo

-

Trost2022 G

TRAPPC9

SJD_50.5

chr8:
140971307-140971307

C

T

intronic

De novo

-

Trost2022 G

TRAPPC9

MSSNG00388-003

chr8:
141247152-141247152

C

T

intronic

De novo

-

Trost2022 G

TRAPPC9

MSSNG00040-004

chr8:
141260740-141260740

G

A

intronic

De novo

-

Trost2022 G

TRAPPC9

14-1775

chr8:
141205546-141205546

C

T

intronic

De novo

-

Trost2022 G

TRAPPC9

5-0038-003

chr8:
141245900-141245900

A

G

intronic

De novo

-

Trost2022 G

TRAPPC9

REACH000517

chr8:
141184919-141184919

G

A

intronic

De novo

-

Trost2022 G

TRAPPC9

11341.p1

chr8:
140904051-140904051

C

G

intronic

De novo

-

Turner2016 G

TRAPPC9

5-5202-003

chr8:
141202263-141202263

C

T

intronic

De novo

-

Trost2022 G

TRAPPC9

2-1552-003

chr8:
141136515-141136515

T

C

intronic

De novo

-

Trost2022 G

TRAPPC9

1-0271-004

chr8:
141250393-141250393

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

7-0354-005

chr8:
141174555-141174555

T

G

intronic

De novo

-

Trost2022 G

TRAPPC9

3-0326-000

chr8:
141313660-141313660

G

T

intronic

De novo

-

Trost2022 G

TRAPPC9

7-0129-003

chr8:
141316375-141316375

A

G

intronic

De novo

-

Trost2022 G

TRAPPC9

3-0056-000

chr8:
141307105-141307105

G

A

intronic

De novo

-

Trost2022 G

TRAPPC9

5-5123-004

chr8:
141307641-141307641

T

C

intronic

De novo

-

Trost2022 G

TRAPPC9

3-0103-000

chr8:
141282306-141282306

G

A

intronic

De novo

-

Trost2022 G

TRAPPC9

1-1020-003A

chr8:
141306257-141306257

C

T

intronic

De novo

-

Trost2022 G

TRAPPC9

2-1477-003

chr8:
140859898-140859939

TGGCCTGGGGATGGGCATGAGCACCTGCCTTCCCGACGGCCC

T

intronic

De novo

-

Yuen2016 G

TRAPPC9

7-0198-003

chr8:
141275627-141275627

T

TGGGCCTG

intronic

De novo

-

Trost2022 G

TRAPPC9

2-1460-003

chr8:
141273916-141273916

G

A

intronic

De novo

-

Yuen2017 G

TRAPPC9

MT_156.3

chr8:
141276577-141276577

A

T

intronic

De novo

-

Trost2022 G

TRAPPC9

3-0058-000

chr8:
141361266-141361270

CGGAT

AAAAA

intronic

De novo

-

Trost2022 G

TRAPPC9

MSSNG00391-003

chr8:
141368198-141368198

G

A

intronic

De novo

-

Trost2022 G

TRAPPC9

2-1286-003

chr8:
141361266-141361270

CGGAT

AAAAAA

intronic

De novo

-

Trost2022 G

TRAPPC9

2-0323-003

chr8:
141361266-141361270

CGGAT

AAAAAA

intronic

De novo

-

Trost2022 G

TRAPPC9

1-1083-003

chr8:
141360907-141360907

G

A

intronic

De novo

-

Trost2022 G

TRAPPC9

2-1341-004

chr8:
140995975-140995975

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

1-0022-003

chr8:
140875159-140875159

C

T

intronic

De novo

-

Yuen2016 G

TRAPPC9

2-1294-004

chr8:
141361159-141361159

G

A

intronic

De novo

-

Trost2022 G

TRAPPC9

MT_95.3

chr8:
141347228-141347228

C

T

intronic

De novo

-

Trost2022 G

TRAPPC9

7-0497-003

chr8:
141351213-141351213

G

A

intronic

De novo

-

Trost2022 G

TRAPPC9

4-0017-003

chr8:
141466926-141466926

T

G

intronic

De novo

-

Trost2022 G

TRAPPC9

2-1361-003

chr8:
140805375-140805375

C

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TRAPPC9

5-5101-003

chr8:
141455699-141455699

A

G

intronic

De novo

-

Trost2022 G

TRAPPC9

3-0393-000

chr8:
141463884-141463884

C

T

intronic

De novo

-

Trost2022 G

TRAPPC9

2-1730-003

chr8:
141401572-141401572

A

G

intronic

De novo

-

Trost2022 G

TRAPPC9

1-1058-003

chr8:
141414076-141414076

T

C

intronic

De novo

-

Trost2022 G

TRAPPC9

1-0534-004

chr8:
140916077-140916077

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

AU3903301

chr8:
141389373-141389373

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

2-1383-003

chr8:
141330167-141330167

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

AU3852301

chr8:
141109375-141109375

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

7-0103-003

chr8:
141251337-141251337

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

1-0065-004

chr8:
140920805-140920805

A

G

intronic

De novo

-

Yuen2017 G

TRAPPC9

1-0806-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

TRAPPC9

Li2017:16097

chr8:
141297759-141297760

GT

G

exonic

Unknown

frameshift deletion

NM_001160372
NM_031466

c.1928delA
c.2222delA

p.Y643fs
p.Y741fs

-

8.243E-6

Li2017 T

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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