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Results for "LOC100129138"

Variant Events: 90

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
LOC100129138    7-0023-003chr1:
104786720-104786720
ACintergenicDe novo--Yuen2017 G
LOC100129138    2-0088-003chr1:
105171191-105171191
GAintergenicDe novo--Yuen2017 G
LOC100129138    AU2019302chr1:
105554155-105554155
CTintergenicDe novo--Yuen2017 G
LOC100129138    AU4154303chr1:
105572397-105572397
ATintergenicDe novo--Yuen2017 G
LOC100129138    5-0025-003chr1:
104849223-104849223
CTintergenicDe novo--Yuen2017 G
LOC100129138    1-0467-003chr1:
105156076-105156078
CTACintergenicDe novo--Yuen2017 G
LOC100129138    2-0208-004chr1:
104702322-104702322
GGAintergenicDe novo--Yuen2017 G
LOC100129138    5-0025-003chr1:
105298774-105298774
GAintergenicDe novo--Yuen2017 G
LOC100129138    AU031003chr1:
104999125-104999125
CTintergenicDe novo--Yuen2017 G
LOC100129138    1-0862-003chr1:
105715519-105715519
CTintergenicDe novo--Yuen2017 G
LOC100129138    AU073005chr1:
104716984-104716990
CAAAAAACAAAAAintergenicDe novo--Yuen2017 G
LOC100129138    2-0098-003chr1:
104761097-104761097
AGintergenicDe novo--Yuen2017 G
LOC100129138    7-0058-003chr1:
105832849-105832849
TCintergenicDe novo--Yuen2017 G
LOC100129138    AU4429301chr1:
105109762-105109762
GAintergenicDe novo--Yuen2017 G
LOC100129138    AU3964302chr1:
104670628-104670628
AGintergenicDe novo--Yuen2017 G
LOC100129138    AU1909304chr1:
105356350-105356350
AGintergenicDe novo--Yuen2017 G
LOC100129138    2-1425-003chr1:
106026668-106026668
CTintergenicDe novo--Yuen2017 G
LOC100129138    AU074503chr1:
104938046-104938046
GAintergenicDe novo--Yuen2017 G
LOC100129138    1-0067-004chr1:
104854243-104854243
AGintergenicDe novo--Yuen2017 G
LOC100129138    1-0585-003chr1:
105453791-105453791
TCintergenicDe novo--Yuen2017 G
LOC100129138    AU2023302chr1:
105145190-105145190
TAintergenicDe novo--Yuen2017 G
LOC100129138    AU3720302chr1:
105268071-105268071
CAintergenicDe novo--Yuen2017 G
LOC100129138    2-1183-003chr1:
105682003-105682003
AGintergenicDe novo--Yuen2017 G
LOC100129138    AU2140306chr1:
105618271-105618271
ACintergenicDe novo--Yuen2017 G
LOC100129138    1-0065-005chr1:
105279591-105279591
TCintergenicDe novo--Yuen2017 G
LOC100129138    2-1429-003chr1:
104853234-104853234
AGintergenicDe novo--Yuen2017 G
LOC100129138    2-1170-003chr1:
105368795-105368795
TCintergenicDe novo--Yuen2017 G
LOC100129138    2-0208-003chr1:
105214873-105214873
CTintergenicDe novo--Yuen2017 G
LOC100129138    AU4067301chr1:
104701164-104701164
TCintergenicDe novo--Yuen2017 G
LOC100129138    1-0820-003chr1:
105390609-105390609
TCintergenicDe novo--Yuen2017 G
LOC100129138    AU050910chr1:
105859397-105859397
AGintergenicDe novo--Yuen2017 G
LOC100129138    AU4032306chr1:
104616431-104616431
CTncRNA_exonicDe novo--Yuen2017 G
LOC100129138    AU2292301chr1:
105610066-105610066
TAintergenicDe novo--Yuen2017 G
LOC100129138    1-0344-003chr1:
105151759-105151759
CTintergenicDe novo--Yuen2017 G
LOC100129138    AU054303chr1:
104751918-104751918
TCintergenicDe novo--Yuen2017 G
LOC100129138    AU031404chr1:
105149861-105149861
GTintergenicDe novo--Yuen2017 G
LOC100129138    AU3635301chr1:
105271388-105271388
TCintergenicDe novo--Yuen2017 G
LOC100129138    AU3371305chr1:
105236518-105236518
CTintergenicDe novo--Yuen2017 G
LOC100129138    2-0002-005chr1:
105762631-105762631
GAintergenicDe novo--Yuen2017 G
LOC100129138    AU3779304chr1:
104715162-104715162
CGintergenicDe novo--Yuen2017 G
LOC100129138    2-1380-003chr1:
105708728-105708728
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100129138    AU3768302chr1:
105860688-105860688
CTintergenicDe novo--Yuen2017 G
LOC100129138    AU3779304chr1:
104716640-104716640
GAintergenicDe novo--Yuen2017 G
LOC100129138    AU4435301chr1:
105545131-105545131
CTintergenicDe novo--Yuen2017 G
LOC100129138    2-1373-003chr1:
105258960-105258960
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100129138    2-0135-004chr1:
106001842-106001842
ACintergenicDe novo--Yuen2017 G
LOC100129138    AU3729301chr1:
105715716-105715716
GAintergenicDe novo--Yuen2017 G
LOC100129138    A25chr1:
105473745-105473745
CTintergenicDe novo--Wu2018 G
LOC100129138    A32chr1:
106031290-106031290
GAintergenicDe novo--Wu2018 G
LOC100129138    1-0353-003chr1:
105132574-105132574
CTintergenicDe novo--Yuen2017 G
LOC100129138    AU3765302chr1:
105823042-105823042
GAintergenicDe novo--Yuen2017 G
LOC100129138    1-0467-005chr1:
105156076-105156078
CTACintergenicDe novo--Yuen2017 G
LOC100129138    AU2485305chr1:
105075362-105075362
CGintergenicDe novo--Yuen2017 G
LOC100129138    2-1508-003chr1:
105073226-105073226
GAintergenicDe novo--Yuen2017 G
LOC100129138    2-1105-003chr1:
105931518-105931518
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100129138    2-1305-003chr1:
105138978-105138978
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100129138    13083.p1chr1:
105963774-105963774
GGTintergenicUnknown--Werling2018 G
LOC100129138    2-1356-003chr1:
105893478-105893478
CTintergenicDe novo--Yuen2016 G
LOC100129138    5-0137-003chr1:
105984158-105984158
CTintergenicDe novo--Yuen2017 G
LOC100129138    2-1452-003chr1:
105270001-105270001
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100129138    7-0183-003chr1:
105299120-105299120
GAintergenicDe novo--Yuen2017 G
LOC100129138    AU3915301chr1:
104727086-104727086
TCintergenicDe novo--Yuen2017 G
LOC100129138    7-0183-003chr1:
105927615-105927615
GAintergenicDe novo--Yuen2017 G
LOC100129138    13964.p1chr1:
104656358-104656358
ATintergenicDe novo--Turner2016 G
LOC100129138    1-0445-003chr1:
104844738-104844738
CTintergenicDe novo--Yuen2017 G
LOC100129138    1-0567-004chr1:
105788357-105788357
AGintergenicDe novo--Yuen2017 G
LOC100129138    7-0008-003chr1:
105737232-105737232
GAintergenicDe novo--Yuen2017 G
LOC100129138    1-0402-004chr1:
105319160-105319160
GAintergenicDe novo--Yuen2017 G
LOC100129138    2-1251-003chr1:
104908433-104908433
AGintergenicDe novo--Yuen2017 G
LOC100129138    2-1591-003chr1:
106127708-106127708
ACintergenicDe novo--Yuen2017 G
LOC100129138    1-0482-003chr1:
105433376-105433376
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100129138    AU4027306chr1:
104889648-104889648
CAintergenicDe novo--Yuen2017 G
LOC100129138    AU2950301chr1:
105595179-105595179
TCintergenicDe novo--Yuen2017 G
LOC100129138    A16chr1:
104948561-104948561
AGintergenicDe novo--Wu2018 G
LOC100129138    AU028305chr1:
105919262-105919262
ATintergenicDe novo--Yuen2017 G
LOC100129138    AU4145301chr1:
105968446-105968446
CTintergenicDe novo--Yuen2017 G
LOC100129138    2-1389-003chr1:
105198576-105198576
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC100129138    AU4015302chr1:
104964489-104964489
TCintergenicDe novo--Yuen2017 G
LOC100129138    AU2292302chr1:
105610066-105610066
TAintergenicDe novo--Yuen2017 G
LOC100129138    AU047704chr1:
105548417-105548417
CTintergenicDe novo--Yuen2017 G
LOC100129138    1-0263-003chr1:
104906674-104906674
TGintergenicDe novo--Yuen2016 G
LOC100129138    7-0143-003chr1:
105788009-105788009
TCintergenicDe novo--Yuen2017 G
LOC100129138    A16chr1:
104933916-104933916
GAintergenicDe novo--Wu2018 G
LOC100129138    1-0190-003chr1:
105735551-105735551
CGintergenicDe novo--Yuen2017 G
LOC100129138    AU3695303chr1:
105319994-105319997
CTTTCTTintergenicDe novo--Yuen2017 G
LOC100129138    1-0389-004chr1:
105888247-105888247
AGintergenicDe novo--Yuen2017 G
LOC100129138    2-1066-004chr1:
105903366-105903366
GAintergenicDe novo--Yuen2017 G
LOC100129138    2-1173-003chr1:
105702744-105702744
AGintergenicDe novo--Yuen2017 G
LOC100129138    2-1306-004chr1:
104791438-104791439
GTGintergenicDe novo--Yuen2017 G
LOC100129138    AU3702306chr1:
105784728-105784728
TCintergenicDe novo--Yuen2017 G
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
Curation notesView
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