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Wu2018
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Results for "Wu2018"
Variant Events: 2210
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
NCAPD3
A13
chr11:
134053340-134053340
G
A
intronic
De novo
-
-
Wu2018
G
CNTN1
A13
chr12:
41459212-41459212
T
C
intronic
De novo
-
-
Wu2018
G
MYOZ1
A13
chr10:
75398858-75398858
C
T
intronic
De novo
-
-
Wu2018
G
NRXN2
A13
chr11:
64406524-64406524
A
G
intronic
De novo
-
-
Wu2018
G
RBFOX1
A13
chr16:
7140056-7140056
G
T
intronic
De novo
-
-
Wu2018
G
MED1
A13
chr17:
37601335-37601335
A
C
intronic
De novo
-
-
Wu2018
G
DGKH
A13
chr13:
42800795-42800795
G
T
intronic
De novo
-
-
Wu2018
G
CLN5
A13
chr13:
77572033-77572033
A
T
intronic
De novo
-
-
Wu2018
G
MICAL3
A13
chr22:
18475295-18475295
T
C
intronic
De novo
-
-
Wu2018
G
IP6K2
A13
chr3:
48747131-48747131
G
A
intronic
De novo
-
-
Wu2018
G
LTBP1
A13
chr2:
33548778-33548778
A
G
intronic
De novo
-
-
Wu2018
G
THUMPD2
A13
chr2:
39967780-39967780
G
A
intronic
De novo
-
-
Wu2018
G
ROBO1
A13
chr3:
78990753-78990753
A
G
intronic
De novo
-
-
Wu2018
G
ATP13A4
A13
chr3:
193176176-193176176
T
G
intronic
De novo
-
-
Wu2018
G
CAMKV
A13
chr3:
49902977-49902977
C
T
intronic
De novo
-
-
Wu2018
G
PDZRN3
A13
chr3:
73549493-73549493
C
A
intronic
De novo
-
-
Wu2018
G
PALLD
A13
chr4:
169543126-169543126
C
T
intronic
De novo
-
-
Wu2018
G
RCAN2
A13
chr6:
46364797-46364797
G
A
intronic
De novo
-
-
Wu2018
G
DLG1
A13
chr3:
196875433-196875433
G
A
intronic
De novo
-
-
Wu2018
G
ABLIM2
A13
chr4:
8130989-8130989
G
A
intronic
De novo
-
-
Wu2018
G
DOCK4
A13
chr7:
111598767-111598767
T
G
intronic
De novo
-
-
Wu2018
G
KCNQ1OT1
A13
chr11:
2632952-2632952
A
G
ncRNA_exonic
De novo
-
-
Wu2018
G
COL19A1
A13
chr6:
70588467-70588467
C
G
intronic
De novo
-
-
Wu2018
G
CDK14
A13
chr7:
90446282-90446282
G
A
intronic
De novo
-
-
Wu2018
G
ZFHX4-AS1
A13
chr8:
77581593-77581593
G
C
ncRNA_intronic
De novo
-
-
Wu2018
G
UPF2
A14
chr10:
11961780-11961780
G
A
downstream
De novo
-
-
Wu2018
G
LINC00333
A13
chr13:
85041784-85041784
G
A
ncRNA_intronic
De novo
-
-
Wu2018
G
LOC100131635
A13
chr3:
187423611-187423611
T
A
ncRNA_intronic
De novo
-
-
Wu2018
G
HDGFL1
A14
chr6:
23525404-23525404
A
G
intergenic
De novo
-
-
Wu2018
G
QKI
A14
chr6:
164109879-164109879
C
G
intergenic
De novo
-
-
Wu2018
G
KRT7
A14
chr12:
52635307-52635307
A
G
exonic
De novo
nonsynonymous SNV
NM_005556
c.A745G
p.M249V
16.07
1.651E-5
Wu2018
G
HMG20A
A14
chr15:
77862007-77862007
C
T
intergenic
De novo
-
-
Wu2018
G
LOC101928322
A14
chr10:
10537627-10537627
T
G
intergenic
De novo
-
-
Wu2018
G
EMX2
A14
chr10:
119715447-119715447
A
G
intergenic
De novo
-
-
Wu2018
G
DISC1FP1
A14
chr11:
90004443-90004443
G
A
ncRNA_intronic
De novo
-
-
Wu2018
G
PBX3
A14
chr9:
128764405-128764405
G
C
intergenic
De novo
-
-
Wu2018
G
ADAD2
A14
chr16:
84241853-84241853
T
G
intergenic
De novo
-
-
Wu2018
G
CDRT8
A14
chr17:
15078639-15078639
A
G
intergenic
De novo
-
-
Wu2018
G
NXPE2
A14
chr11:
114941160-114941160
C
T
intergenic
De novo
-
-
Wu2018
G
NOS1
A14
chr12:
117807841-117807841
C
T
intergenic
De novo
-
-
Wu2018
G
LOC100506474
A14
chr2:
14227836-14227836
T
C
intergenic
De novo
-
-
Wu2018
G
LOC101929231
A14
chr2:
151312968-151312968
G
C
intergenic
De novo
-
-
Wu2018
G
RAB31
A14
chr18:
9706992-9706992
A
G
intergenic
De novo
-
-
Wu2018
G
LOC400940
A14
chr2:
6130680-6130680
C
T
intergenic
De novo
-
-
Wu2018
G
FUT9
A14
chr6:
96699106-96699106
T
C
intergenic
De novo
-
-
Wu2018
G
KIAA0087
A14
chr7:
26658409-26658409
G
A
intergenic
De novo
-
-
Wu2018
G
DNAH5
A14
chr5:
14112232-14112232
T
G
intergenic
De novo
-
-
Wu2018
G
A14
chr5:
15387390-15387390
T
C
intergenic
De novo
-
-
Wu2018
G
LINC00092
A14
chr9:
98786868-98786868
G
A
intergenic
De novo
-
-
Wu2018
G
KDM5B
A14
chr1:
202749435-202749435
C
G
intronic
De novo
-
-
Wu2018
G
LINC01392
A14
chr7:
114848153-114848153
T
C
ncRNA_intronic
De novo
-
-
Wu2018
G
TRIB1
A14
chr8:
126888060-126888060
T
C
intergenic
De novo
-
-
Wu2018
G
CD247
A14
chr1:
167440046-167440046
T
G
intronic
De novo
-
-
Wu2018
G
XPR1
A14
chr1:
180785507-180785507
C
T
intronic
De novo
-
-
Wu2018
G
UBR4
A14
chr1:
19523436-19523436
G
A
intronic
De novo
-
-
Wu2018
G
RGS5
A14
chr1:
163202560-163202560
A
G
intronic
De novo
-
-
Wu2018
G
USP5
A14
chr12:
6969465-6969465
T
C
intronic
De novo
-
-
Wu2018
G
WDR89
A14
chr14:
64084391-64084391
C
G
intronic
De novo
-
-
Wu2018
G
KCNMA1
A14
chr10:
79246463-79246463
G
A
intronic
De novo
-
-
Wu2018
G
PPFIA1
A14
chr11:
70171541-70171541
A
G
intronic
De novo
-
-
Wu2018
G
KCNH8
A14
chr3:
19294145-19294145
G
T
intronic
De novo
-
-
Wu2018
G
PDCD6IP
A14
chr3:
33904182-33904182
T
C
intronic
De novo
-
-
Wu2018
G
CDH3
A14
chr16:
68710138-68710138
T
C
intronic
De novo
-
-
Wu2018
G
MED15
A14
chr22:
20882586-20882586
C
T
intronic
De novo
-
-
Wu2018
G
MARCH1
A14
chr4:
164576928-164576928
C
T
intronic
De novo
-
-
Wu2018
G
PTCH1
A14
chr9:
98249110-98249110
A
G
intronic
De novo
-
-
Wu2018
G
FHIT
A14
chr3:
60559429-60559429
G
A
intronic
De novo
-
-
Wu2018
G
CSTA
A14
chr3:
122050404-122050404
G
T
intronic
De novo
-
-
Wu2018
G
LOC729159
A15
chr16:
60608687-60608687
G
A
intergenic
De novo
-
-
Wu2018
G
STK25
A15
chr2:
242465503-242465503
C
A
intergenic
De novo
-
-
Wu2018
G
STX18-AS1
A14
chr4:
4695723-4695723
C
A
ncRNA_intronic
De novo
-
-
Wu2018
G
LMO7DN
A15
chr13:
76629993-76629993
G
A
intergenic
De novo
-
-
Wu2018
G
PRDM2
A15
chr1:
14902018-14902018
G
A
intergenic
De novo
-
-
Wu2018
G
STMN1
A15
chr1:
26255995-26255995
C
T
intergenic
De novo
-
-
Wu2018
G
SORCS2
A15
chr4:
7746159-7746159
G
C
intergenic
De novo
-
-
Wu2018
G
DAPK1
A15
chr9:
90334123-90334123
A
G
intergenic
De novo
-
-
Wu2018
G
CHST14
A15
chr15:
40772660-40772660
A
G
intergenic
De novo
-
-
Wu2018
G
LINC01443
A15
chr18:
14973202-14973202
T
C
ncRNA_exonic
De novo
-
-
Wu2018
G
DKK1
A15
chr10:
54153058-54153058
G
C
intergenic
De novo
-
-
Wu2018
G
LOC646813
A15
chr11:
51245118-51245118
G
A
intergenic
De novo
-
-
Wu2018
G
PDHA2
A15
chr4:
98256049-98256049
A
G
intergenic
De novo
-
-
Wu2018
G
ARHGEF28
A15
chr5:
73253179-73253179
G
A
intergenic
De novo
-
-
Wu2018
G
KLF2
A15
chr19:
16460084-16460084
G
A
intergenic
De novo
-
-
Wu2018
G
CCDC39
A15
chr3:
180423274-180423274
T
C
intergenic
De novo
-
-
Wu2018
G
CSMD3
A15
chr8:
114538242-114538242
C
T
intergenic
De novo
-
-
Wu2018
G
MPP7
A15
chr10:
28345153-28345153
C
G
intronic
De novo
-
-
Wu2018
G
LOC285762
A15
chr6:
120316528-120316528
A
T
intergenic
De novo
-
-
Wu2018
G
XKR6
A15
chr8:
11086477-11086477
A
T
intergenic
De novo
-
-
Wu2018
G
ADAMTSL1
A15
chr9:
18694805-18694805
G
A
intronic
De novo
-
-
Wu2018
G
DIAPH3
A15
chr13:
60469224-60469224
T
C
intronic
De novo
-
-
Wu2018
G
SH3RF3
A15
chr2:
110036859-110036859
T
A
intronic
De novo
-
-
Wu2018
G
MCF2L2
A15
chr3:
182950272-182950272
C
A
intronic
De novo
-
-
Wu2018
G
LRRC4C
A15
chr11:
41294801-41294801
G
A
intronic
De novo
-
-
Wu2018
G
FRS2
A15
chr12:
69896201-69896201
G
A
intronic
De novo
-
-
Wu2018
G
RAB31
A15
chr18:
9836728-9836728
G
A
intronic
De novo
-
-
Wu2018
G
ROR1
A15
chr1:
64475470-64475470
G
C
intronic
De novo
-
-
Wu2018
G
NSUN3
A15
chr3:
93789922-93789922
T
C
intronic
De novo
-
-
Wu2018
G
SLC30A9
A15
chr4:
42000165-42000165
G
A
intronic
De novo
-
-
Wu2018
G
AKAP6
A15
chr14:
32867315-32867315
C
T
intronic
De novo
-
-
Wu2018
G
FOXN3
A15
chr14:
89954769-89954769
C
T
intronic
De novo
-
-
Wu2018
G
NKAIN2
A15
chr6:
124684047-124684047
C
T
intronic
De novo
-
-
Wu2018
G
WIPF3
A15
chr7:
29877683-29877683
C
T
intronic
De novo
-
-
Wu2018
G
C9
A15
chr5:
39295623-39295623
A
G
intronic
De novo
-
-
Wu2018
G
TRERF1
A15
chr6:
42347816-42347816
G
A
intronic
De novo
-
-
Wu2018
G
SH3BP5-AS1
A15
chr3:
15295998-15295998
C
G
ncRNA_exonic
De novo
-
-
Wu2018
G
LOC284395
A15
chr19:
29973933-29973933
A
G
ncRNA_intronic
De novo
-
-
Wu2018
G
AUTS2
A15
chr7:
69801049-69801049
C
T
intronic
De novo
-
-
Wu2018
G
DIRAS2
A15
chr9:
93403359-93403359
G
A
intronic
De novo
-
-
Wu2018
G
DGKA
A16
chr12:
56345844-56345844
A
C
exonic
De novo
nonsynonymous SNV
NM_001345
NM_201444
NM_201554
NM_201445
c.A1613C
c.A1613C
c.A1613C
c.A1613C
p.H538P
p.H538P
p.H538P
p.H538P
22.6
-
Wu2018
G
LOC100129138
A16
chr1:
104948561-104948561
A
G
intergenic
De novo
-
-
Wu2018
G
TEX26-AS1
A15
chr13:
31503305-31503305
C
T
ncRNA_intronic
De novo
-
-
Wu2018
G
SPAM1
A16
chr7:
123611429-123611429
G
A
UTR3
De novo
-
-
Wu2018
G
FOXL1
A16
chr16:
87052892-87052892
G
A
intergenic
De novo
-
-
Wu2018
G
COBL
A16
chr7:
51568113-51568113
T
G
intergenic
De novo
-
-
Wu2018
G
RHOU
A16
chr1:
229029261-229029261
G
T
intergenic
De novo
-
-
Wu2018
G
APOPT1
A16
chr14:
104072422-104072422
G
A
intergenic
De novo
-
-
Wu2018
G
CD1A
A16
chr1:
158241331-158241331
A
G
intergenic
De novo
-
-
Wu2018
G
LINC01036
A16
chr1:
187396941-187396941
T
C
intergenic
De novo
-
-
Wu2018
G
MAGI1
A16
chr3:
65166244-65166244
T
C
intergenic
De novo
-
-
Wu2018
G
LOC100129138
A16
chr1:
104933916-104933916
G
A
intergenic
De novo
-
-
Wu2018
G
DIO3
A16
chr14:
102036742-102036742
T
C
intergenic
De novo
-
-
Wu2018
G
SP6
A16
chr17:
45967697-45967697
G
A
intergenic
De novo
-
-
Wu2018
G
LINC00707
A16
chr10:
7070244-7070244
C
G
intergenic
De novo
-
-
Wu2018
G
REEP3
A16
chr10:
66531238-66531238
T
C
intergenic
De novo
-
-
Wu2018
G
A16
chr2:
60414489-60414489
G
C
intergenic
De novo
-
-
Wu2018
G
PTH2R
A16
chr2:
210173056-210173056
G
C
intergenic
De novo
-
-
Wu2018
G
SALL3
A16
chr18:
76805172-76805172
G
T
intergenic
De novo
-
-
Wu2018
G
KIF3C
A16
chr2:
26238185-26238185
T
C
intergenic
De novo
-
-
Wu2018
G
SLC7A14
A16
chr3:
170364444-170364444
A
G
intergenic
De novo
-
-
Wu2018
G
MRFAP1
A16
chr4:
6662897-6662897
T
G
intergenic
De novo
-
-
Wu2018
G
TOP3B
A16
chr22:
22470886-22470886
C
T
intergenic
De novo
-
-
Wu2018
G
CYP2D7
A16
chr22:
42554238-42554238
C
T
intergenic
De novo
-
-
Wu2018
G
ARRDC3-AS1
A16
chr5:
92565354-92565354
T
C
intergenic
De novo
-
-
Wu2018
G
PAM
A16
chr5:
102371004-102371004
C
T
intergenic
De novo
-
-
Wu2018
G
SH3D19
A16
chr4:
152187136-152187136
C
T
intergenic
De novo
-
-
Wu2018
G
ARRDC3-AS1
A16
chr5:
92504019-92504019
T
C
intergenic
De novo
-
-
Wu2018
G
CACNA2D1
A16
chr7:
82193119-82193119
C
T
intergenic
De novo
-
-
Wu2018
G
LPL
A16
chr8:
19935685-19935685
C
G
intergenic
De novo
-
-
Wu2018
G
LINC01013
A16
chr6:
132589090-132589090
C
G
intergenic
De novo
-
-
Wu2018
G
QKI
A16
chr6:
164334166-164334166
G
A
intergenic
De novo
-
-
Wu2018
G
ANXA1
A16
chr9:
76294103-76294103
A
C
intergenic
De novo
-
-
Wu2018
G
DCAF6
A16
chr1:
167964120-167964120
A
C
intronic
De novo
-
-
Wu2018
G
A16
chr8:
47492341-47492341
T
C
intergenic
De novo
-
-
Wu2018
G
EFCAB1
A16
chr8:
49659891-49659891
G
A
intergenic
De novo
-
-
Wu2018
G
GALNT17
A16
chr7:
70886222-70886222
G
A
intronic
De novo
-
-
Wu2018
G
DLC1
A16
chr8:
12952206-12952206
C
T
intronic
De novo
-
-
Wu2018
G
SPECC1
A16
chr17:
20069897-20069897
A
C
intronic
De novo
-
-
Wu2018
G
BACH2
A16
chr6:
90803423-90803423
T
C
intronic
De novo
-
-
Wu2018
G
MRPL37
A16
chr1:
54672821-54672821
C
G
intronic
De novo
-
-
Wu2018
G
ERICH3-AS1
A16
chr1:
75075837-75075837
G
T
ncRNA_intronic
De novo
-
-
Wu2018
G
CAMTA1
A16
chr1:
6908620-6908620
A
G
intronic
De novo
-
-
Wu2018
G
CNR2
A16
chr1:
24215025-24215025
C
G
intronic
De novo
-
-
Wu2018
G
PLD5
A16
chr1:
242443000-242443000
T
C
intronic
De novo
-
-
Wu2018
G
CTNNA3
A16
chr10:
68270835-68270835
T
C
intronic
De novo
-
-
Wu2018
G
LAMC2
A16
chr1:
183179364-183179364
C
G
intronic
De novo
-
-
Wu2018
G
TRIM67
A16
chr1:
231333593-231333593
A
G
intronic
De novo
-
-
Wu2018
G
MARK3
A16
chr14:
103958429-103958429
C
T
intronic
De novo
-
-
Wu2018
G
EML6
A16
chr2:
55114141-55114141
A
T
intronic
De novo
-
-
Wu2018
G
FAM53B
A16
chr10:
126403554-126403554
T
C
intronic
De novo
-
-
Wu2018
G
CEP128
A16
chr14:
80969320-80969320
A
G
intronic
De novo
-
-
Wu2018
G
CBLB
A16
chr3:
105481205-105481205
A
C
intronic
De novo
-
-
Wu2018
G
ATP13A4
A16
chr3:
193178090-193178090
T
C
intronic
De novo
-
-
Wu2018
G
SMARCB1
A16
chr22:
24156721-24156721
G
A
intronic
De novo
-
-
Wu2018
G
CADM2
A16
chr3:
85927127-85927127
A
G
intronic
De novo
-
-
Wu2018
G
DLGAP2
A16
chr8:
1645523-1645523
G
A
intronic
De novo
-
-
Wu2018
G
CSMD1
A16
chr8:
3970295-3970295
G
T
intronic
De novo
-
-
Wu2018
G
RGS7BP
A16
chr5:
63892033-63892033
T
C
intronic
De novo
-
-
Wu2018
G
COA1
A16
chr7:
43723083-43723083
G
A
intronic
De novo
-
-
Wu2018
G
LINC01622
A16
chr6:
1051342-1051342
C
T
ncRNA_intronic
De novo
-
-
Wu2018
G
CHODL
A17
chr21:
19639688-19639688
T
G
downstream
De novo
-
-
Wu2018
G
KCNB2
A16
chr8:
73808714-73808714
G
T
intronic
De novo
-
-
Wu2018
G
MIA-RAB4B
A16
chr19:
41287649-41287649
G
A
ncRNA_intronic
De novo
-
-
Wu2018
G
MANEA
A17
chr6:
96327891-96327891
T
A
intergenic
De novo
-
-
Wu2018
G
MSR1
A17
chr8:
16146508-16146508
A
G
intergenic
De novo
-
-
Wu2018
G
PLPPR4
A17
chr1:
99897890-99897890
A
G
intergenic
De novo
-
-
Wu2018
G
A17
chr5:
29626287-29626287
T
C
intergenic
De novo
-
-
Wu2018
G
ADGRL2
A17
chr1:
82814034-82814034
G
A
intergenic
De novo
-
-
Wu2018
G
LRRN2
A17
chr1:
204684061-204684061
T
C
intergenic
De novo
-
-
Wu2018
G
SHISA9
A17
chr16:
13966830-13966830
T
G
intergenic
De novo
-
-
Wu2018
G
SMC2
A17
chr9:
106962886-106962886
G
A
intergenic
De novo
-
-
Wu2018
G
LRRIQ1
A17
chr12:
85647851-85647851
T
C
intergenic
De novo
-
-
Wu2018
G
GSC
A17
chr14:
95454868-95454868
G
C
intergenic
De novo
-
-
Wu2018
G
REEP3
A17
chr10:
65891833-65891833
C
T
intergenic
De novo
-
-
Wu2018
G
KRR1
A17
chr12:
76402374-76402374
C
T
intergenic
De novo
-
-
Wu2018
G
MED26
A17
chr19:
16750212-16750212
C
T
intergenic
De novo
-
-
Wu2018
G
MIR3681HG
A17
chr2:
12251831-12251831
A
C
ncRNA_intronic
De novo
-
-
Wu2018
G
ALOX12P2
A17
chr17:
6842982-6842982
A
G
intergenic
De novo
-
-
Wu2018
G
CCDC102B
A17
chr18:
66931412-66931412
C
A
intergenic
De novo
-
-
Wu2018
G
SH3BP4
A17
chr2:
236123425-236123425
G
A
intergenic
De novo
-
-
Wu2018
G
LINC01524
A17
chr20:
51384662-51384662
C
T
intergenic
De novo
-
-
Wu2018
G
LINC01121
A17
chr2:
45494614-45494614
G
C
intergenic
De novo
-
-
Wu2018
G
LOC101927881
A17
chr2:
129955538-129955538
T
C
intergenic
De novo
-
-
Wu2018
G
MIR4445
A17
chr3:
110367707-110367707
T
C
intergenic
De novo
-
-
Wu2018
G
LOC101928622
A17
chr4:
35246454-35246454
C
T
intergenic
De novo
-
-
Wu2018
G
LOC101927829
A17
chr3:
20611687-20611687
G
A
intergenic
De novo
-
-
Wu2018
G
POU1F1
A17
chr3:
87495697-87495697
A
G
intergenic
De novo
-
-
Wu2018
G
CDH12
A17
chr5:
23448687-23448687
C
T
intergenic
De novo
-
-
Wu2018
G
LINC01108
A17
chr6:
15076830-15076830
T
C
intergenic
De novo
-
-
Wu2018
G
C4orf3
A17
chr4:
120234089-120234089
G
C
intergenic
De novo
-
-
Wu2018
G
GLRB
A17
chr4:
158130670-158130670
C
T
intergenic
De novo
-
-
Wu2018
G
C8orf86
A17
chr8:
38397476-38397476
T
C
intergenic
De novo
-
-
Wu2018
G
OPRK1
A17
chr8:
54569914-54569914
G
T
intergenic
De novo
-
-
Wu2018
G
PER4
A17
chr7:
10644161-10644161
A
G
intergenic
De novo
-
-
Wu2018
G
DUSP4
A17
chr8:
29531039-29531039
A
G
intergenic
De novo
-
-
Wu2018
G
PDGFRL
A17
chr8:
17454593-17454593
G
A
intronic
De novo
-
-
Wu2018
G
MYO3B
A17
chr2:
171469693-171469693
T
C
intronic
De novo
-
-
Wu2018
G
LINGO2
A17
chr9:
30077919-30077919
A
G
intergenic
De novo
-
-
Wu2018
G
KLF4
A17
chr9:
111424588-111424588
A
G
intergenic
De novo
-
-
Wu2018
G
RASSF3
A17
chr12:
65051745-65051745
T
C
intronic
De novo
-
-
Wu2018
G
ALX1
A17
chr12:
85675539-85675539
T
C
intronic
De novo
-
-
Wu2018
G
RYR2
A17
chr1:
237343785-237343785
A
C
intronic
De novo
-
-
Wu2018
G
FCHSD2
A17
chr11:
72754077-72754077
A
C
intronic
De novo
-
-
Wu2018
G
PARN
A17
chr16:
14597544-14597544
G
A
intronic
De novo
-
-
Wu2018
G
RMDN2-AS1
A17
chr2:
38200136-38200136
T
A
ncRNA_intronic
De novo
-
-
Wu2018
G
GPC6
A17
chr13:
94126298-94126298
G
A
intronic
De novo
-
-
Wu2018
G
SOS2
A17
chr14:
50673613-50673613
C
T
intronic
De novo
-
-
Wu2018
G
PPARG
A17
chr3:
12413187-12413187
G
A
intronic
De novo
-
-
Wu2018
G
STXBP5L
A17
chr3:
120815389-120815389
A
G
intronic
De novo
-
-
Wu2018
G
CYP20A1
A17
chr2:
204107935-204107935
C
T
intronic
De novo
-
-
Wu2018
G
SON
A17
chr21:
34933439-34933439
A
C
intronic
De novo
-
-
Wu2018
G
PKIB
A17
chr6:
123012590-123012590
T
C
intronic
De novo
-
-
Wu2018
G
CNGB3
A17
chr8:
87736122-87736122
C
A
intronic
De novo
-
-
Wu2018
G
KCNMB2-AS1
A17
chr3:
178378015-178378015
T
G
ncRNA_intronic
De novo
-
-
Wu2018
G
RASGEF1C
A17
chr5:
179530147-179530147
G
A
intronic
De novo
-
-
Wu2018
G
PXDN
A18
chr2:
1687482-1687482
C
T
exonic
De novo
nonsynonymous SNV
NM_012293
c.G506A
p.R169Q
22.0
8.778E-5
Wu2018
G
LINC00457
A18
chr13:
35482592-35482592
G
C
intergenic
De novo
-
-
Wu2018
G
ASAP1
A17
chr8:
131353099-131353099
T
C
intronic
De novo
0.009
-
Wu2018
G
PRSS3
A17
chr9:
33761414-33761414
C
T
intronic
De novo
-
-
Wu2018
G
CDCA2
A18
chr8:
25573760-25573760
A
G
intergenic
De novo
-
-
Wu2018
G
ZNF90
A18
chr19:
20254255-20254255
G
A
intergenic
De novo
-
-
Wu2018
G
CDH19
A18
chr18:
64283645-64283645
G
A
intergenic
De novo
-
-
Wu2018
G
LOC101929380
A18
chr5:
86467796-86467796
G
T
ncRNA_intronic
De novo
-
-
Wu2018
G
PADI3
A18
chr1:
17614679-17614679
G
C
intergenic
De novo
-
-
Wu2018
G
ADGRL2
A18
chr1:
82565055-82565055
T
A
intergenic
De novo
-
-
Wu2018
G
MIR4436A
A18
chr2:
89504736-89504736
T
C
intergenic
De novo
-
-
Wu2018
G
SPP2
A18
chr2:
235207973-235207973
G
T
intergenic
De novo
-
-
Wu2018
G
TENM4
A18
chr11:
79395949-79395949
T
C
intergenic
De novo
-
-
Wu2018
G
SLC6A15
A18
chr12:
85312448-85312448
T
C
intergenic
De novo
-
-
Wu2018
G
CENPF
A18
chr1:
215032666-215032666
C
G
intergenic
De novo
-
-
Wu2018
G
ANKRD30A
A18
chr10:
37584621-37584621
G
C
intergenic
De novo
-
-
Wu2018
G
MIR6085
A18
chr15:
62761930-62761930
C
G
intergenic
De novo
-
-
Wu2018
G
FOPNL
A18
chr16:
16005030-16005030
G
A
intergenic
De novo
-
-
Wu2018
G
CMKLR1
A18
chr12:
108804808-108804808
G
A
intergenic
De novo
-
-
Wu2018
G
LINC00433
A18
chr13:
89385568-89385568
G
A
intergenic
De novo
-
-
Wu2018
G
LINC01121
A18
chr2:
45483993-45483993
T
C
intergenic
De novo
-
-
Wu2018
G
LINC01121
A18
Complex Event; expand row to view variants
De novo
-
-
Wu2018
G
Wu2018
G
MAF
A18
chr16:
79733398-79733398
A
G
intergenic
De novo
-
-
Wu2018
G
CA10
A18
chr17:
50910175-50910175
A
G
intergenic
De novo
-
-
Wu2018
G
OTOR
A18
chr20:
16852807-16852807
G
T
intergenic
De novo
-
-
Wu2018
G
PISD
A18
Complex Event; expand row to view variants
De novo
-
-
Wu2018
G
Wu2018
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 notes
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