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Results for "Doan2019"

Variant Events: 68

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
DDHD1     03HI2508Achr14:
53540567-53540567		TAsplicingsplicing20.44.159E-5Doan2019 E
DDHD1     03HI2508Achr14:
53513669-53513669		TAsplicingsplicing18.213.51E-5Doan2019 E
CHTF18     SAGA-84chr16:
840270-840270		GAsplicingsplicing9.7288.74E-5Doan2019 E
EML5     NDAR_INVFF921HTH_wes1chr14:
89089060-89089060		GTexonicstopgainNM_183387c.C4901Ap.S1634X28.4-Doan2019 E
GCN1     SAGA-70 Complex Event; expand row to view variants  splicing12.89-Doan2019 E
Doan2019 E
PAH     NDAR_INVZW891AN2_wes1chr12:
103248917-103248917		GAexonicstopgainNM_000277c.C703Tp.Q235X38.0-Doan2019 E
BRMS1L     NDAR_INVXC606PL1_wes1chr14:
36334969-36334969		TCsplicingsplicing23.5-Doan2019 E
MEDAG     80001102159chr13:
31498447-31498447		GCsplicingsplicing13.983.0E-4Doan2019 E
ATP9B     03HI2710Achr18:
76873279-76873279		TGexonicstopgainNM_001306085
NM_198531		c.T483G
c.T483G		p.Y161X
p.Y161X		32.0-Doan2019 E
DNAI2     AU179Achr17:
72277947-72277947		AGsplicingsplicing--Doan2019 E
ELOF1     NDAR_INVCV108AHP_wes1chr19:
11665182-11665182		TCsplicingsplicing-3.0E-4Doan2019 E
ATP9B     03HI2710Achr18:
76886265-76886265		ATsplicingsplicing22.92.474E-5Doan2019 E
ROGDI     NDAR_INVDR082LLL_wes1chr16:
4851323-4851323		CAsplicingsplicing19.12-Doan2019 E
CHTF18     SAGA-84chr16:
842786-842786		CAexonicstopgainNM_022092c.C1547Ap.S516X26.0-Doan2019 E
KIF22     ASDFI_1650chr16:
29816249-29816249		GTexonicstopgainNM_001256270
NM_007317
NM_001256269		c.G1588T
c.G1792T
c.G1588T		p.E530X
p.E598X
p.E530X		36.0-Doan2019 E
NUPR1     UK10K_SKUSE5080172chr16:
28549357-28549357		GAexonicstopgainNM_001042483
NM_012385		c.C286T
c.C232T		p.R96X
p.R78X		36.05.79E-5Doan2019 E
B3GALNT2     80001103921chr1:
235621957-235621957		CTexonicnonsynonymous SNVNM_152490c.G979Ap.D327N25.53.307E-5Doan2019 E
B3GALNT2     80001103921chr1:
235616401-235616401		CTsplicingsplicing29.7-Doan2019 E
COQ8A     AU-13901chr1:
227174299-227174299		CGexonicnonsynonymous SNVNM_020247c.C1805Gp.P602R28.14.12E-5Doan2019 E
CA2     AU-10501chr8:
86377699-86377699		GAsplicingsplicing24.61.039E-5Doan2019 E
ASS1     SKUSE5080161chr9:
133374932-133374932		GAexonicnonsynonymous SNVNM_054012
NM_000050		c.G1168A
c.G1168A		p.G390R
p.G390R		19.274.0E-4Doan2019 E
GZF1     NDAR_INVPA860MYW_wes1chr20:
23350846-23350846		CAexonicstopgainNM_022482
NM_001317012		c.C1904A
c.C1904A		p.S635X
p.S635X		18.44-Doan2019 E
ATP7B     80001103644chr13:
52509766-52509766		AGexonicnonsynonymous SNVNM_001005918
NM_000053
NM_001243182		c.T3466C
c.T4087C
c.T3754C		p.S1156P
p.S1363P
p.S1252P		17.45-Doan2019 E
ATP7B     80001103644chr13:
52518281-52518281		GTexonicnonsynonymous SNVNM_001005918
NM_000053
NM_001243182		c.C2586A
c.C3207A
c.C2874A		p.H862Q
p.H1069Q
p.H958Q		14.039.0E-4Doan2019 E
NAGLU     AU-16201chr17:
40693137-40693137		GAexonicnonsynonymous SNVNM_000263c.G934Ap.D312N26.0-Doan2019 E
MYO15A     SAGA-96chr17:
18058028-18058028		GAexonicnonsynonymous SNVNM_016239c.G8183Ap.R2728H26.92.0E-4Doan2019 E
PAH     AU-16201chr12:
103246593-103246593		GAexonicnonsynonymous SNVNM_000277c.C842Tp.P281L27.19.884E-5Doan2019 E
PAH     AU-16201chr12:
103246653-103246653		CTexonicnonsynonymous SNVNM_000277c.G782Ap.R261Q36.03.0E-4Doan2019 E
GLRA1     AU-12001chr5:
151239545-151239545		GAexonicnonsynonymous SNVNM_001292000
NM_000171
NM_001146040		c.C28T
c.C277T
c.C277T		p.R10W
p.R93W
p.R93W		18.532.473E-5Doan2019 E
GBE1     AU-24601chr3:
81691938-81691938		TCexonicnonsynonymous SNVNM_000158c.A986Gp.Y329C20.45.0E-4Doan2019 E
MYO15A     SAGA-96chr17:
18044441-18044441		CTexonicstopgainNM_016239c.C5515Tp.Q1839X46.01.0E-4Doan2019 E
HADH     09C86928chr4:
108948883-108948883		TCexonicnonsynonymous SNVNM_001184705
NM_005327		c.T676C
c.T676C		p.Y226H
p.Y226H		26.26.6E-5Doan2019 E
POLG     AU-16201chr15:
89862284-89862284		CTexonicnonsynonymous SNVNM_001126131
NM_002693		c.G3151A
c.G3151A		p.G1051R
p.G1051R		22.78.247E-6Doan2019 E
RFX5     NDAR_INVYH284TCH_wes1chr1:
151315156-151315156		GAexonicstopgainNM_000449
NM_001025603		c.C1357T
c.C1357T		p.Q453X
p.Q453X		37.0-Doan2019 E
USH2A     09C96107chr1:
215848539-215848539		ACexonicstopgainNM_206933c.T12714Gp.Y4238X55.0-Doan2019 E
Doan2019 E
CGN     NDAR_INVPM619FA1_wes1chr1:
151492888-151492888		AGsplicingsplicing17.33-Doan2019 E
FEV     DEASD_0182_001chr2:
219846841-219846841		CAexonicstopgainNM_017521c.G265Tp.E89X41.08.412E-6Doan2019 E
RIF1     03HI2710Achr2:
152326223-152326223		ATsplicingsplicing16.972.755E-5Doan2019 E
RARB     NDAR_INVFD105FB0_wes1chr3:
25470300-25470300		CAexonicstopgainNM_000965
NM_001290277		c.C78A
c.C78A		p.C26X
p.C26X		41.0-Doan2019 E
FEV     DEASD_0182_002chr2:
219846841-219846841		CAexonicstopgainNM_017521c.G265Tp.E89X41.08.412E-6Doan2019 E
ITPRIPL1     NDAR_INVLX621YHE_wes1chr2:
96993806-96993806		GAexonicstopgainNM_178495
NM_001163523
NM_001163524
NM_001008949		c.G1461A
c.G1413A
c.G1413A
c.G1437A		p.W487X
p.W471X
p.W471X
p.W479X		38.02.0E-4Doan2019 E
USH2A     09C96107chr1:
216219874-216219874		CTexonicstopgainNM_206933c.G6224Ap.W2075X50.0-Doan2019 E
Doan2019 E
RIF1     03HI2710Achr2:
152311407-152311407		ATsplicingsplicing19.812.756E-5Doan2019 E
RIF1     03HI2710Achr2:
152301850-152301850		ATsplicingsplicing22.43.304E-5Doan2019 E
COL19A1     03HI2508Achr6:
70847641-70847641		TGsplicingsplicing19.91-Doan2019 E
COL19A1     03HI2508Achr6:
70733517-70733517		ATsplicingsplicing20.7-Doan2019 E
CDHR3     NDAR_INVCP020ZKM_wes1chr7:
105644979-105644979		CTexonicstopgainNM_001301161
NM_152750		c.C634T
c.C898T		p.R212X
p.R300X		34.01.0E-4Doan2019 E
NCOA7     80001103867chr6:
126210778-126210778		CGexonicstopgainNM_001199621
NM_001122842
NM_181782
NM_001199619
NM_001199620		c.C1233G
c.C1545G
c.C1578G
c.C1578G
c.C1578G		p.Y411X
p.Y515X
p.Y526X
p.Y526X
p.Y526X		37.02.515E-5Doan2019 E
CXCL9     NDAR_INVNA891YXR_wes1chr4:
76926047-76926047		CTsplicingsplicing9.902-Doan2019 E
MOB1B     AU106Achr4:
71824589-71824589		AGsplicingsplicing25.08.282E-6Doan2019 E
ABCC10     NDAR_INVDZ305CH0_wes1chr6:
43400966-43400966		CGexonicstopgainNM_033450
NM_001198934		c.C1119G
c.C1248G		p.Y373X
p.Y416X		33.0-Doan2019 E
NSUN2     NDAR_INVNX928JZW_wes1chr5:
6604723-6604723		GAexonicstopgainNM_001193455
NM_017755		c.C1708T
c.C1813T		p.Q570X
p.Q605X		47.0-Doan2019 E
SLC1A1     DEASD_0396_001chr9:
4544617-4544617		GTexonicstopgainNM_004170c.G142Tp.E48X37.0-Doan2019 E
ZNF16     DEASD_0207_001chr8:
146156843-146156843		GAexonicstopgainNM_006958
NM_001029976		c.C1330T
c.C1330T		p.Q444X
p.Q444X		28.8-Doan2019 E
BTAF1     03HI2710Achr10:
93740209-93740209		ATsplicingsplicing19.642.689E-5Doan2019 E
DYDC1     NDAR_INVKC662ERB_wes1chr10:
82112238-82112238		ATexonicstopgainNM_001269053
NM_138812		c.T120A
c.T120A		p.Y40X
p.Y40X		39.0-Doan2019 E
LSMEM1     NDAR_INVEW902YT9_wes1chr7:
112129963-112129963		CTexonicstopgainNM_001134468
NM_182597		c.C355T
c.C355T		p.R119X
p.R119X		38.01.65E-5Doan2019 E
CDHR3     NDAR_INVLT348DHD_wes1chr7:
105655556-105655556		GAsplicingsplicing11.326.097E-5Doan2019 E
CA2     NDAR_INVEY051YHZ_wes1chr8:
86377699-86377699		GAsplicingsplicing24.61.039E-5Doan2019 E
CPA4     NDAR_INVGZ858VY7_wes1chr7:
129948221-129948221		GAexonicstopgainNM_001163446
NM_016352		c.G678A
c.G777A		p.W226X
p.W259X		37.00.0023Doan2019 E
HOXC5       NDAR_INVNX928JZW_wes1chr12:
54428061-54428061		GCsplicingsplicing15.35-Doan2019 E
FCHSD2     NDAR_INVWP471YM8_wes1chr11:
72700034-72700034		GAexonicstopgainNM_014824c.C496Tp.R166X36.0-Doan2019 E
PAH     NDAR_INVBX440FDB_wes1chr12:
103248917-103248917		GAexonicstopgainNM_000277c.C703Tp.Q235X38.0-Doan2019 E
SLC35E3     80001104066chr12:
69145971-69145971		GCsplicingsplicing20.62.0E-4Doan2019 E
IFITM5     NDAR_INVYL539LYE_wes1chr11:
298710-298710		GAexonicstopgainNM_001025295c.C190Tp.R64X20.37.198E-5Doan2019 E
BTAF1     03HI2710Achr10:
93756124-93756124		ATsplicingsplicing21.71.0E-4Doan2019 E
SLC22A6     NDAR_INVCE310PNM_wes1chr11:
62751164-62751164		CTsplicingsplicing18.73-Doan2019 E
SCGB1D1     NDAR_INVXK914EGD_wes1chr11:
61957807-61957807		CGexonicstopgainNM_006552c.C51Gp.Y17X14.422.0E-4Doan2019 E
Source Variant Information

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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
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