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Results for "TRRAP"

Variant Events: 55

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     M15264chr7:
98581031-98581031		GAexonicMaternalnonsynonymous SNVNM_003496
NM_001244580		c.G8896A
c.G8950A		p.D2966N
p.D2984N		32.0-Guo2018 T
Wang2016 T
TRRAP     220-9892-201chr7:
98547768-98547769		AAAexonicMaternalframeshift deletionNM_003496
NM_001244580		c.5143delA
c.5197delA		p.K1715fs
p.K1733fs		--Stessman2017 T
TRRAP     GX0040.p1chr7:
98606063-98606063		CGexonicMaternalnonsynonymous SNVNM_003496
NM_001244580		c.C10688G
c.C10775G		p.S3563C
p.S3592C		32.0-Guo2018 T
TRRAP     11828.p1chr7:
98506430-98506430		GAexonicDe novononsynonymous SNVNM_001244580
NM_003496		c.G1195A
c.G1195A		p.V399I
p.V399I		23.43.37E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
TRRAP     12320.p1chr7:
98550922-98550922		CTexonicDe novononsynonymous SNVNM_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
Wilfert2021 G
TRRAP     14463.p1chr7:
98609859-98609859		CTexonicDe novononsynonymous SNVNM_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
TRRAP     7-0161-003chr7:
98490095-98490095		GAexonicDe novononsynonymous SNVNM_001244580
NM_003496		c.G310A
c.G310A		p.E104K
p.E104K		31.0-Yuen2017 G
TRRAP     PN400104chr7:
98557015-98557015		CTexonicUnknownnonsynonymous SNVNM_003496
NM_001244580		c.C6316T
c.C6370T		p.R2106C
p.R2124C		33.01.0E-4Leblond2019 E
TRRAP     M12443chr7:
98609099-98609099		GAexonicUnknownnonsynonymous SNVNM_003496
NM_001244580		c.G11149A
c.G11236A		p.G3717S
p.G3746S		35.0-Guo2018 T
Wang2016 T
TRRAP     AU047704chr7:
98523690-98523690		AGintronicDe novo--Yuen2017 G
TRRAP     M16100chr7:
98563456-98563456		CTexonicUnknownnonsynonymous SNVNM_003496
NM_001244580		c.C7039T
c.C7093T		p.R2347W
p.R2365W		28.68.243E-6Stessman2017 T
TRRAP     1-0467-003chr7:
98542455-98542455		GAintronicDe novo--Yuen2017 G
TRRAP     018-08-108865chr7:
98478841-98478841		AGexonicDe novononsynonymous SNVNM_001244580
NM_003496		c.A68G
c.A68G		p.Q23R
p.Q23R		22.7-Fu2022 E
Satterstrom2020 E
TRRAP     SSC03986chr7:
98506430-98506430		GAexonicDe novononsynonymous SNVNM_001244580
NM_003496		c.G1195A
c.G1195A		p.V399I
p.V399I		23.43.37E-5Fu2022 E
Lim2017 E
TRRAP     EGAN00001101241chr7:
98478825-98478825		ATexonicDe novononsynonymous SNVNM_001244580
NM_003496		c.A52T
c.A52T		p.M18L
p.M18L		17.63-Fu2022 E
Satterstrom2020 E
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
TRRAP     NDAR_INVLH429WK1_wes1chr7:
98567934-98567934		AGintronicDe novo-8.71E-6Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
TRRAP     A4chr7:
98480488-98480488		GAintronicDe novo--Wu2018 G
TRRAP     SSC11926chr7:
98609859-98609859		CTexonicDe novononsynonymous SNVNM_003496
NM_001244580		c.C11374T
c.C11461T		p.R3792C
p.R3821C		33.0-Antaki2022 GE
Fu2022 E
Lim2017 E
TRRAP     GX0499.p1chr7:
98563453-98563453		CTexonicPaternalnonsynonymous SNVNM_003496
NM_001244580		c.C7036T
c.C7090T		p.L2346F
p.L2364F		32.08.242E-6Guo2018 T
TRRAP     11252.p1chr7:
98597317-98597317		ACintronicDe novo--Turner2016 G
TRRAP     DEASD_0398_001chr7:
98478779-98478779		GAexonicDe novosynonymous SNVNM_001244580
NM_003496		c.G6A
c.G6A		p.A2A
p.A2A		-3.0E-4DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
TRRAP     M23651chr7:
98586515-98586515		GAexonicPaternalnonsynonymous SNVNM_003496
NM_001244580		c.G9442A
c.G9529A		p.V3148M
p.V3177M		31.08.272E-6Guo2018 T
Wang2016 T
TRRAP     M31989chr7:
98529197-98529197		CAexonicPaternalnonsynonymous SNVNM_001244580
NM_003496		c.C3761A
c.C3761A		p.S1254Y
p.S1254Y		35.0-Guo2018 T
TRRAP     M23044chr7:
98508848-98508848		CTexonicUnknownnonsynonymous SNVNM_001244580
NM_003496		c.C1961T
c.C1961T		p.T654M
p.T654M		32.0-Guo2018 T
Wang2016 T
TRRAP     M19702chr7:
98529197-98529197		CAexonicMaternalnonsynonymous SNVNM_001244580
NM_003496		c.C3761A
c.C3761A		p.S1254Y
p.S1254Y		35.0-Guo2018 T
Wang2016 T
TRRAP     TRE_404chr7:
98553817-98553817		AGexonicDe novononsynonymous SNVNM_003496
NM_001244580		c.A5911G
c.A5965G		p.M1971V
p.M1989V		16.44-Fu2022 E
TRRAP     SP0064043chr7:
98519522-98519522		CGexonicDe novononsynonymous SNVNM_001244580
NM_003496		c.C2769G
c.C2769G		p.S923R
p.S923R		17.5-Fu2022 E
TRRAP     217-14191-3150chr7:
98608720-98608720		CTexonicPaternalnonsynonymous SNVNM_003496
NM_001244580		c.C10855T
c.C10942T		p.R3619C
p.R3648C		35.0-Stessman2017 T
TRRAP     1-0534-006chr7:
98598668-98598668		CTintronicDe novo--Yuen2017 G
TRRAP     12320_p1chr7:
98550922-98550922		CTexonicDe novononsynonymous SNVNM_003496
NM_001244580		c.C5521T
c.C5575T		p.R1841C
p.R1859C		23.2-Fu2022 E
TRRAP     1-0455-004chr7:
98574753-98574753		CTintronicDe novo--Yuen2017 G
TRRAP     5-0110-003chr7:
98574117-98574125		TGAGATAAGTGAGATAAGAGATAAGexonicDe novoframeshift insertionNM_003496
NM_001244580		c.7904_7905insAGATAAG
c.7958_7959insAGATAAG		p.S2635fs
p.S2653fs		--Yuen2017 G
TRRAP     SP0032281chr7:
98547852-98547852		CTexonicDe novosynonymous SNVNM_003496
NM_001244580		c.C5226T
c.C5280T		p.N1742N
p.N1760N		6.9832.475E-5Fu2022 E
TRRAP     AU4067303chr7:
98553325-98553325		AGintronicDe novo--Yuen2017 G
TRRAP     SP0144571chr7:
98506351-98506351		GTexonicDe novononsynonymous SNVNM_001244580
NM_003496		c.G1116T
c.G1116T		p.R372S
p.R372S		17.68-Fu2022 E
TRRAP     M12352chr7:
98567763-98567763		CAexonicPaternalnonsynonymous SNVNM_003496
NM_001244580		c.C7466A
c.C7520A		p.T2489N
p.T2507N		34.0-Guo2018 T
Wang2016 T
TRRAP     PN400343chr7:
98608742-98608742		CTexonicUnknownnonsynonymous SNVNM_003496
NM_001244580		c.C10877T
c.C10964T		p.A3626V
p.A3655V		33.0-Leblond2019 E
TRRAP     11882-1chr7:
98490265-98490265		GCintronicDe novo--Fu2022 E
TRRAP     SP0020613chr7:
98562347-98562347		CAexonicDe novosynonymous SNVNM_003496
NM_001244580		c.C6850A
c.C6904A		p.R2284R
p.R2302R		--Fu2022 E
TRRAP     PN400495chr7:
98557015-98557015		CTexonicUnknownnonsynonymous SNVNM_003496
NM_001244580		c.C6316T
c.C6370T		p.R2106C
p.R2124C		33.01.0E-4Leblond2019 E
TRRAP     05C40021chr7:
98507709-98507709		CTexonicUnknownnonsynonymous SNVNM_001244580
NM_003496		c.C1381T
c.C1381T		p.R461W
p.R461W		17.668.991E-6Stessman2017 T
TRRAP     GX0139.p1chr7:
98509724-98509724		GAexonicUnknownnonsynonymous SNVNM_001244580
NM_003496		c.G2087A
c.G2087A		p.R696H
p.R696H		34.09.06E-5Guo2018 T
TRRAP     SP0051474chr7:
98609124-98609124		CTexonicnonsynonymous SNVNM_003496
NM_001244580		c.C11174T
c.C11261T		p.A3725V
p.A3754V		27.4-Antaki2022 GE
TRRAP     SP0076179chr7:
98552797-98552797		CTexonicDe novononsynonymous SNVNM_003496
NM_001244580		c.C5732T
c.C5786T		p.P1911L
p.P1929L		34.0-Antaki2022 GE
Fu2022 E
TRRAP     SSC04431chr7:
98550922-98550922		CTexonicnonsynonymous SNVNM_003496
NM_001244580		c.C5521T
c.C5575T		p.R1841C
p.R1859C		23.2-Antaki2022 GE
TRRAP     SP0141108chr7:
98513466-98513466		CAexonicDe novononsynonymous SNVNM_001244580
NM_003496		c.C2320A
c.C2320A		p.L774I
p.L774I		27.7-Antaki2022 GE
Fu2022 E
TRRAP     PN400564chr7:
98557015-98557015		CTexonicUnknownnonsynonymous SNVNM_003496
NM_001244580		c.C6316T
c.C6370T		p.R2106C
p.R2124C		33.01.0E-4Leblond2019 E
TRRAP     M13288chr7:
98581031-98581031		GAexonicUnknownnonsynonymous SNVNM_003496
NM_001244580		c.G8896A
c.G8950A		p.D2966N
p.D2984N		32.0-Guo2018 T
Wang2016 T
TRRAP     AU3760301chr7:
98521301-98521301		CTintronicDe novo--Yuen2017 G
TRRAP     1-0553-003chr7:
98529088-98529088		GAexonicDe novononsynonymous SNVNM_001244580
NM_003496		c.G3652A
c.G3652A		p.A1218T
p.A1218T		18.188.304E-6Yuen2017 G
TRRAP     AU4152303chr7:
98604961-98604961		AGintronicDe novo--Yuen2017 G
TRRAP     AU4314302chr7:
98529978-98529978		CAintronicDe novo--Yuen2017 G
TRRAP     PN400498chr7:
98557015-98557015		CTexonicUnknownnonsynonymous SNVNM_003496
NM_001244580		c.C6316T
c.C6370T		p.R2106C
p.R2124C		33.01.0E-4Leblond2019 E
TRRAP     M17431chr7:
98529286-98529286		GCexonicPaternalnonsynonymous SNVNM_001244580
NM_003496		c.G3850C
c.G3850C		p.E1284Q
p.E1284Q		31.0-Guo2018 T
Wang2016 T
Source Variant Information

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Paper Information
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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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