Variant Results

or

Results for "TRRAP"

Variant Events: 71

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

TRRAP

M15264

chr7:
98581031-98581031

G

A

exonic

Maternal

nonsynonymous SNV

NM_003496
NM_001244580

c.G8896A
c.G8950A

p.D2966N
p.D2984N

32.0

-

Guo2018 T
Wang2016 T

TRRAP

mAGRE4003

chr7:
98550939-98550939

C

G

exonic

De novo

nonsynonymous SNV

NM_003496
NM_001244580

c.C5538G
c.C5592G

p.F1846L
p.F1864L

14.89

-

Cirnigliaro2023 G

TRRAP

mAGRE5334

chr7:
98535286-98535291

CTACCA

C

exonic

Maternal

frameshift deletion

NM_001244580
NM_003496

c.4248_4252del
c.4248_4252del

p.A1416fs
p.A1416fs

-

Cirnigliaro2023 G

TRRAP

1-0750-003

chr7:
98604149-98604149

C

A

intronic

De novo

-

Trost2022 G

TRRAP

220-9892-201

chr7:
98547768-98547769

AA

A

exonic

Maternal

frameshift deletion

NM_003496
NM_001244580

c.5143delA
c.5197delA

p.K1715fs
p.K1733fs

-

Stessman2017 T

TRRAP

GX0040.p1

chr7:
98606063-98606063

C

G

exonic

Maternal

nonsynonymous SNV

NM_003496
NM_001244580

c.C10688G
c.C10775G

p.S3563C
p.S3592C

32.0

-

Guo2018 T

TRRAP

11828.p1

chr7:
98506430-98506430

G

A

exonic

De novo

nonsynonymous SNV

NM_001244580
NM_003496

c.G1195A
c.G1195A

p.V399I
p.V399I

23.4

3.37E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Zhou2022 GE

TRRAP

12320.p1

chr7:
98550922-98550922

C

T

exonic

De novo

nonsynonymous SNV

NM_003496
NM_001244580

c.C5521T
c.C5575T

p.R1841C
p.R1859C

23.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

TRRAP

14463.p1

chr7:
98609859-98609859

C

T

exonic

De novo

nonsynonymous SNV

NM_003496
NM_001244580

c.C11374T
c.C11461T

p.R3792C
p.R3821C

33.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

TRRAP

7-0161-003

chr7:
98490095-98490095

G

A

exonic

De novo

nonsynonymous SNV

NM_001244580
NM_003496

c.G310A
c.G310A

p.E104K
p.E104K

31.0

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

TRRAP

PN400104

chr7:
98557015-98557015

C

T

exonic

Unknown

nonsynonymous SNV

NM_003496
NM_001244580

c.C6316T
c.C6370T

p.R2106C
p.R2124C

33.0

1.0E-4

Leblond2019 E

TRRAP

M12443

chr7:
98609099-98609099

G

A

exonic

Unknown

nonsynonymous SNV

NM_003496
NM_001244580

c.G11149A
c.G11236A

p.G3717S
p.G3746S

35.0

-

Guo2018 T
Wang2016 T

TRRAP

AU047704

chr7:
98523690-98523690

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRRAP

M16100

chr7:
98563456-98563456

C

T

exonic

Unknown

nonsynonymous SNV

NM_003496
NM_001244580

c.C7039T
c.C7093T

p.R2347W
p.R2365W

28.6

8.243E-6

Stessman2017 T

TRRAP

1-0467-003

chr7:
98542455-98542455

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRRAP

018-08-108865

chr7:
98478841-98478841

A

G

exonic

De novo

nonsynonymous SNV

NM_001244580
NM_003496

c.A68G
c.A68G

p.Q23R
p.Q23R

22.7

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TRRAP

SSC03986

chr7:
98506430-98506430

G

A

exonic

De novo

nonsynonymous SNV

NM_001244580
NM_003496

c.G1195A
c.G1195A

p.V399I
p.V399I

23.4

3.37E-5

Fu2022 E
Lim2017 E
Trost2022 G

TRRAP

EGAN00001101241

chr7:
98478825-98478825

A

T

exonic

De novo

nonsynonymous SNV

NM_001244580
NM_003496

c.A52T
c.A52T

p.M18L
p.M18L

17.63

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TRRAP

NDAR_INVLH429WK1_wes1

Complex Event; expand row to view variants

De novo

-

Fu2022 E
Fu2022 E
Kosmicki2017 E
Kosmicki2017 E
Satterstrom2020 E
Satterstrom2020 E
Trost2022 G
Trost2022 G

TRRAP

NDAR_INVLH429WK1_wes1

chr7:
98567934-98567934

A

G

intronic

De novo

-

8.71E-6

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

TRRAP

A4

chr7:
98480488-98480488

G

A

intronic

De novo

-

Wu2018 G

TRRAP

SSC11926

chr7:
98609859-98609859

C

T

exonic

De novo

nonsynonymous SNV

NM_003496
NM_001244580

c.C11374T
c.C11461T

p.R3792C
p.R3821C

33.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

TRRAP

GX0499.p1

chr7:
98563453-98563453

C

T

exonic

Paternal

nonsynonymous SNV

NM_003496
NM_001244580

c.C7036T
c.C7090T

p.L2346F
p.L2364F

32.0

8.242E-6

Guo2018 T

TRRAP

11252.p1

chr7:
98597317-98597317

A

C

intronic

De novo

-

Turner2016 G

TRRAP

DEASD_0398_001

chr7:
98478779-98478779

G

A

exonic

De novo

synonymous SNV

NM_001244580
NM_003496

c.G6A
c.G6A

p.A2A
p.A2A

-

3.0E-4

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

TRRAP

M23651

chr7:
98586515-98586515

G

A

exonic

Paternal

nonsynonymous SNV

NM_003496
NM_001244580

c.G9442A
c.G9529A

p.V3148M
p.V3177M

31.0

8.272E-6

Guo2018 T
Wang2016 T

TRRAP

M31989

chr7:
98529197-98529197

C

A

exonic

Paternal

nonsynonymous SNV

NM_001244580
NM_003496

c.C3761A
c.C3761A

p.S1254Y
p.S1254Y

35.0

-

Guo2018 T

TRRAP

M23044

chr7:
98508848-98508848

C

T

exonic

Unknown

nonsynonymous SNV

NM_001244580
NM_003496

c.C1961T
c.C1961T

p.T654M
p.T654M

32.0

-

Guo2018 T
Wang2016 T

TRRAP

M19702

chr7:
98529197-98529197

C

A

exonic

Maternal

nonsynonymous SNV

NM_001244580
NM_003496

c.C3761A
c.C3761A

p.S1254Y
p.S1254Y

35.0

-

Guo2018 T
Wang2016 T

TRRAP

TRE_404

chr7:
98553817-98553817

A

G

exonic

De novo

nonsynonymous SNV

NM_003496
NM_001244580

c.A5911G
c.A5965G

p.M1971V
p.M1989V

16.44

-

Fu2022 E

TRRAP

SP0064043

chr7:
98519522-98519522

C

G

exonic

De novo

nonsynonymous SNV

NM_001244580
NM_003496

c.C2769G
c.C2769G

p.S923R
p.S923R

17.5

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TRRAP

217-14191-3150

chr7:
98608720-98608720

C

T

exonic

Paternal

nonsynonymous SNV

NM_003496
NM_001244580

c.C10855T
c.C10942T

p.R3619C
p.R3648C

35.0

-

Stessman2017 T

TRRAP

1-0534-006

chr7:
98598668-98598668

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRRAP

12320_p1

chr7:
98550922-98550922

C

T

exonic

De novo

nonsynonymous SNV

NM_003496
NM_001244580

c.C5521T
c.C5575T

p.R1841C
p.R1859C

23.2

-

Fu2022 E

TRRAP

1-0455-004

chr7:
98574753-98574753

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRRAP

5-0110-003

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_003496
NM_001244580
NM_003496
NM_001244580

c.7896_7897insGAGATAA
c.7950_7951insGAGATAA
c.7904_7905insAGATAAG
c.7958_7959insAGATAAG

p.G2632fs
p.G2650fs
p.S2635fs
p.S2653fs

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

TRRAP

SP0032281

chr7:
98547852-98547852

C

T

exonic

De novo

synonymous SNV

NM_003496
NM_001244580

c.C5226T
c.C5280T

p.N1742N
p.N1760N

6.983

2.475E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

TRRAP

AU4067303

chr7:
98553325-98553325

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRRAP

SP0144571

chr7:
98506351-98506351

G

T

exonic

De novo

nonsynonymous SNV

NM_001244580
NM_003496

c.G1116T
c.G1116T

p.R372S
p.R372S

17.68

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TRRAP

M12352

chr7:
98567763-98567763

C

A

exonic

Paternal

nonsynonymous SNV

NM_003496
NM_001244580

c.C7466A
c.C7520A

p.T2489N
p.T2507N

34.0

-

Guo2018 T
Wang2016 T

TRRAP

PN400343

chr7:
98608742-98608742

C

T

exonic

Unknown

nonsynonymous SNV

NM_003496
NM_001244580

c.C10877T
c.C10964T

p.A3626V
p.A3655V

33.0

-

Leblond2019 E

TRRAP

11882-1

chr7:
98490265-98490265

G

C

intronic

De novo

-

Fu2022 E

TRRAP

SP0020613

chr7:
98562347-98562347

C

A

exonic

De novo

synonymous SNV

NM_003496
NM_001244580

c.C6850A
c.C6904A

p.R2284R
p.R2302R

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TRRAP

PN400495

chr7:
98557015-98557015

C

T

exonic

Unknown

nonsynonymous SNV

NM_003496
NM_001244580

c.C6316T
c.C6370T

p.R2106C
p.R2124C

33.0

1.0E-4

Leblond2019 E

TRRAP

05C40021

chr7:
98507709-98507709

C

T

exonic

Unknown

nonsynonymous SNV

NM_001244580
NM_003496

c.C1381T
c.C1381T

p.R461W
p.R461W

17.66

8.991E-6

Stessman2017 T

TRRAP

GX0139.p1

chr7:
98509724-98509724

G

A

exonic

Unknown

nonsynonymous SNV

NM_001244580
NM_003496

c.G2087A
c.G2087A

p.R696H
p.R696H

34.0

9.06E-5

Guo2018 T

TRRAP

SP0051474

chr7:
98609124-98609124

C

T

exonic

nonsynonymous SNV

NM_003496
NM_001244580

c.C11174T
c.C11261T

p.A3725V
p.A3754V

27.4

-

Antaki2022 GE
Zhou2022 GE

TRRAP

SP0076179

chr7:
98552797-98552797

C

T

exonic

De novo

nonsynonymous SNV

NM_003496
NM_001244580

c.C5732T
c.C5786T

p.P1911L
p.P1929L

34.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

TRRAP

7-0456-003

chr7:
98554053-98554056

GAGA

G

exonic

De novo

nonframeshift deletion

NM_003496
NM_001244580

c.6054_6056del
c.6108_6110del

p.2018_2019del
p.2036_2037del

-

8.241E-6

Trost2022 G
Zhou2022 GE

TRRAP

SSC04431

chr7:
98550922-98550922

C

T

exonic

nonsynonymous SNV

NM_003496
NM_001244580

c.C5521T
c.C5575T

p.R1841C
p.R1859C

23.2

-

Antaki2022 GE

TRRAP

SP0141108

chr7:
98513466-98513466

C

A

exonic

De novo

nonsynonymous SNV

NM_001244580
NM_003496

c.C2320A
c.C2320A

p.L774I
p.L774I

27.7

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

TRRAP

SP0001087

chr7:
98581985-98581985

C

T

intronic

-

9.03E-6

Zhou2022 GE

TRRAP

PN400564

chr7:
98557015-98557015

C

T

exonic

Unknown

nonsynonymous SNV

NM_003496
NM_001244580

c.C6316T
c.C6370T

p.R2106C
p.R2124C

33.0

1.0E-4

Leblond2019 E

TRRAP

M13288

chr7:
98581031-98581031

G

A

exonic

Unknown

nonsynonymous SNV

NM_003496
NM_001244580

c.G8896A
c.G8950A

p.D2966N
p.D2984N

32.0

-

Guo2018 T
Wang2016 T

TRRAP

AU3760301

chr7:
98521301-98521301

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRRAP

MSSNG00424-004

chr7:
98483978-98483978

T

G

intronic

De novo

-

Trost2022 G

TRRAP

14-1011

chr7:
98484121-98484121

A

G

intronic

De novo

-

Trost2022 G

TRRAP

5-5022-003

chr7:
98479656-98479656

A

G

intronic

De novo

-

2.531E-5

Trost2022 G

TRRAP

1-0553-003

chr7:
98529088-98529088

G

A

exonic

De novo

nonsynonymous SNV

NM_001244580
NM_003496

c.G3652A
c.G3652A

p.A1218T
p.A1218T

18.18

8.304E-6

Trost2022 G
Yuen2017 G

TRRAP

AU4152303

chr7:
98604961-98604961

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRRAP

3-0114-000

chr7:
98564291-98564291

C

T

intronic

De novo

-

Trost2022 G

TRRAP

AU2698301

chr7:
98579756-98579756

G

A

intronic

De novo

-

Trost2022 G

TRRAP

SP0205713

chr7:
98545810-98545810

C

T

intronic

De novo

-

5.787E-5

Trost2022 G

TRRAP

AU4314302

chr7:
98529978-98529978

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRRAP

PN400498

chr7:
98557015-98557015

C

T

exonic

Unknown

nonsynonymous SNV

NM_003496
NM_001244580

c.C6316T
c.C6370T

p.R2106C
p.R2124C

33.0

1.0E-4

Leblond2019 E

TRRAP

SP0148353

chr7:
98546194-98546194

G

A

exonic

De novo

synonymous SNV

NM_003496
NM_001244580

c.G4599A
c.G4653A

p.G1533G
p.G1551G

2.744

-

Trost2022 G

TRRAP

1-1130-003

chr7:
98501391-98501391

C

G

intronic

De novo

-

Trost2022 G

TRRAP

SP0208085

chr7:
98506531-98506531

C

G

exonic

De novo

synonymous SNV

NM_001244580
NM_003496

c.C1296G
c.C1296G

p.S432S
p.S432S

10.19

-

Trost2022 G

TRRAP

SJD_58.3

chr7:
98489732-98489732

A

G

intronic

De novo

-

Trost2022 G

TRRAP

M17431

chr7:
98529286-98529286

G

C

exonic

Paternal

nonsynonymous SNV

NM_001244580
NM_003496

c.G3850C
c.G3850C

p.E1284Q
p.E1284Q

31.0

-

Guo2018 T
Wang2016 T

TRRAP

2-1800-003

chr7:
98494120-98494123

CCTT

C

intronic

De novo

-

Trost2022 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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