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Yuen2016
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Results for "Yuen2016"
Variant Events: 11088
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
CDC42
2-0043-003
chr1:
22441326-22441326
C
T
intergenic
De novo
-
-
Yuen2016
G
LOC100506022
2-0043-003
chr1:
9528295-9528295
G
C
intergenic
De novo
-
-
Yuen2016
G
SVIL
2-0043-003
chr10:
30142559-30142559
C
T
intergenic
De novo
-
-
Yuen2016
G
GPRIN2
2-0043-003
chr10:
47021769-47021769
G
A
intergenic
De novo
-
-
Yuen2016
G
OR4C45
2-0043-003
chr11:
48395727-48395727
G
A
intergenic
De novo
-
-
Yuen2016
G
TENM4
2-0043-003
chr11:
79214694-79214694
A
G
intergenic
De novo
-
-
Yuen2016
G
LINC01468
2-0043-003
chr10:
54247121-54247121
G
A
intergenic
De novo
-
-
Yuen2016
G
ADCK1
2-0043-003
chr14:
78654470-78654470
C
G
intergenic
De novo
-
-
Yuen2016
G
ADCK1
2-0043-003
chr14:
78660380-78660380
G
C
intergenic
De novo
-
-
Yuen2016
G
KITLG
2-0043-003
chr12:
89038113-89038113
A
G
intergenic
De novo
-
-
Yuen2016
G
COQ7
2-0043-003
chr16:
19100099-19100099
A
G
intergenic
De novo
-
-
Yuen2016
G
2-0043-003
chr14:
98090365-98090365
C
A
intergenic
De novo
-
-
Yuen2016
G
TLN2
2-0043-003
chr15:
63219880-63219880
C
G
intergenic
De novo
-
-
Yuen2016
G
MIR4318
2-0043-003
chr18:
36099894-36099894
C
A
intergenic
De novo
-
-
Yuen2016
G
MISP
2-0043-003
chr19:
753365-753365
G
A
intronic
De novo
-
-
Yuen2016
G
RBM38
2-0043-003
chr20:
55975574-55975574
G
T
intronic
De novo
-
-
Yuen2016
G
SLCO4A1
2-0043-003
chr20:
61203422-61203422
C
A
intergenic
De novo
-
-
Yuen2016
G
MYO3B
2-0043-003
chr2:
171169891-171169891
A
T
intronic
De novo
-
-
Yuen2016
G
ABHD12
2-0043-003
chr20:
25317264-25317264
C
A
intronic
De novo
-
-
Yuen2016
G
NMNAT3
2-0043-003
chr3:
139523120-139523120
G
T
intergenic
De novo
-
-
Yuen2016
G
MPPED1
2-0043-003
chr22:
43828105-43828105
G
C
intronic
De novo
-
-
Yuen2016
G
LINC00901
2-0043-003
chr3:
116836466-116836466
C
T
intergenic
De novo
-
-
Yuen2016
G
MIR3660
2-0043-003
chr5:
88696204-88696204
C
T
intergenic
De novo
-
-
Yuen2016
G
RANBP9
2-0043-003
chr6:
13671544-13671544
A
G
intronic
De novo
-
-
Yuen2016
G
2-0043-003
chr4:
12375458-12375458
C
T
intergenic
De novo
-
-
Yuen2016
G
MAD2L1
2-0043-003
chr4:
121494930-121494930
G
A
intergenic
De novo
-
-
Yuen2016
G
DPY19L1
2-0043-003
chr7:
34997969-34997969
G
A
intronic
De novo
-
-
Yuen2016
G
FAM3C
2-0043-003
chr7:
121116635-121116635
A
C
intergenic
De novo
-
-
Yuen2016
G
DCDC2
2-0043-003
chr6:
24296109-24296109
G
A
intronic
De novo
-
-
Yuen2016
G
IGF2R
2-0043-003
chr6:
160499238-160499238
G
A
exonic
De novo
synonymous SNV
NM_000876
c.G5322A
p.T1774T
-
2.0E-4
Yuen2016
G
DPP6
2-0043-003
chr7:
153873847-153873847
C
T
intronic
De novo
-
-
Yuen2016
G
KCNV1
2-0043-003
chr8:
111664436-111664436
C
T
intergenic
De novo
-
-
Yuen2016
G
AOC1
2-0043-003
chr7:
150593186-150593186
G
A
intergenic
De novo
-
-
Yuen2016
G
LINC01505
2-0043-003
chr9:
109426365-109426365
C
T
ncRNA_intronic
De novo
-
-
Yuen2016
G
OLFM1
2-0043-003
chr9:
137976406-137976406
G
C
intronic
De novo
-
-
Yuen2016
G
ANKS6
2-0043-003
chr9:
101530828-101530828
C
G
intronic
De novo
-
-
Yuen2016
G
ZNF644
2-0045-003
chr1:
91642700-91642700
C
A
intergenic
De novo
-
-
Yuen2016
G
LOC730102
2-0045-003
chr1:
178015365-178015365
G
A
intergenic
De novo
-
-
Yuen2016
G
CAMTA1
2-0045-003
chr1:
7205006-7205006
C
T
intronic
De novo
-
-
Yuen2016
G
OMA1
2-0045-003
chr1:
58947661-58947661
G
C
intronic
De novo
-
-
Yuen2016
G
RET
2-0045-003
chr10:
43606501-43606501
C
G
intronic
De novo
-
-
Yuen2016
G
CYP2C18
2-0045-003
chr10:
96503334-96503334
C
A
intergenic
De novo
-
-
Yuen2016
G
SYT2
2-0045-003
chr1:
202589119-202589119
C
G
intronic
De novo
-
-
Yuen2016
G
HLX-AS1
2-0045-003
chr1:
221018652-221018652
C
A
ncRNA_intronic
De novo
-
-
Yuen2016
G
ARHGAP20
2-0045-003
chr11:
110550120-110550120
T
C
intronic
De novo
-
-
Yuen2016
G
PPFIA2
2-0045-003
chr12:
82307284-82307284
C
A
intergenic
De novo
-
-
Yuen2016
G
SPRN
2-0045-003
chr10:
135261835-135261835
T
C
intergenic
De novo
-
-
Yuen2016
G
MS4A10
2-0045-003
chr11:
60605448-60605448
C
A
intergenic
De novo
-
-
Yuen2016
G
LINC00399
2-0045-003
chr13:
110320134-110320134
C
T
intergenic
De novo
-
-
Yuen2016
G
SRRM2
2-0045-003
chr16:
2813215-2813215
C
T
exonic
De novo
nonsynonymous SNV
NM_016333
c.C2686T
p.P896S
0.008
-
Yuen2016
G
LDLRAD4
2-0045-003
chr18:
13646697-13646697
A
T
UTR3
De novo
-
-
Yuen2016
G
OSBPL1A
2-0045-003
chr18:
21875331-21875331
A
C
intronic
De novo
-
-
Yuen2016
G
SALL1
2-0045-003
chr16:
51401094-51401094
T
C
intergenic
De novo
-
-
Yuen2016
G
NCKAP5
2-0045-003
chr2:
134553215-134553215
G
A
intergenic
De novo
-
-
Yuen2016
G
DOCK10
2-0045-003
chr2:
226069324-226069324
G
A
intergenic
De novo
-
-
Yuen2016
G
ZNF98
2-0045-003
chr19:
22694327-22694327
C
T
intergenic
De novo
-
-
Yuen2016
G
MYT1L-AS1
2-0045-003
chr2:
2325825-2325825
A
G
ncRNA_intronic
De novo
-
-
Yuen2016
G
VAPB
2-0045-003
chr20:
56968707-56968707
C
T
intronic
De novo
-
-
Yuen2016
G
CDH4
2-0045-003
chr20:
59867546-59867546
A
C
intronic
De novo
-
-
Yuen2016
G
MROH8
2-0045-003
chr20:
35788537-35788537
T
G
exonic
De novo
unknown
5.062
-
Yuen2016
G
KY
2-0045-003
chr3:
134448845-134448845
C
T
intergenic
De novo
-
-
Yuen2016
G
OTOL1
2-0045-003
chr3:
161250923-161250923
A
G
intergenic
De novo
-
-
Yuen2016
G
TRAK1
2-0045-003
chr3:
42172644-42172644
A
G
intronic
De novo
-
-
Yuen2016
G
RYBP
2-0045-003
chr3:
72505606-72505606
C
T
intergenic
De novo
-
-
Yuen2016
G
ECE2
2-0045-003
chr3:
184007415-184007415
C
T
intronic
De novo
-
-
Yuen2016
G
EVC2
2-0045-003
chr4:
5576169-5576169
C
A
intronic
De novo
-
-
Yuen2016
G
BCHE
2-0045-003
chr3:
165816380-165816380
G
T
intergenic
De novo
-
-
Yuen2016
G
ABCC5
2-0045-003
chr3:
183664132-183664132
G
A
intronic
De novo
-
-
Yuen2016
G
GPAT3
2-0045-003
chr4:
84597956-84597956
A
C
intergenic
De novo
-
-
Yuen2016
G
2-0045-003
chr4:
174953024-174953024
G
T
intergenic
De novo
-
-
Yuen2016
G
2-0045-003
chr4:
40316484-40316484
G
C
ncRNA_intronic
De novo
-
-
Yuen2016
G
ATP10D
2-0045-003
chr4:
47496011-47496011
A
G
intronic
De novo
-
-
Yuen2016
G
2-0045-003
chr5:
50342768-50342768
C
T
intergenic
De novo
-
-
Yuen2016
G
NLN
2-0045-003
chr5:
65152701-65152701
A
G
intergenic
De novo
-
-
Yuen2016
G
SNX25
2-0045-003
chr4:
186156665-186156665
G
A
intronic
De novo
-
-
Yuen2016
G
MIR4277
2-0045-003
chr5:
1750419-1750419
G
A
intergenic
De novo
-
-
Yuen2016
G
HSPA9
2-0045-003
chr5:
137944988-137944988
G
A
intergenic
De novo
-
-
Yuen2016
G
EYS
2-0045-003
chr6:
64634412-64634412
A
G
intronic
De novo
-
-
Yuen2016
G
LOC100289230
2-0045-003
chr5:
98566437-98566437
G
A
intergenic
De novo
-
-
Yuen2016
G
PRKN
2-0045-003
chr6:
162177013-162177013
G
A
intronic
De novo
-
-
Yuen2016
G
MSRA
2-0045-003
chr8:
10297973-10297973
C
T
intergenic
De novo
-
-
Yuen2016
G
KCNQ5
2-0045-003
chr6:
73526611-73526611
T
C
intronic
De novo
-
-
Yuen2016
G
RFPL4B
2-0045-003
chr6:
113635604-113635604
A
C
intergenic
De novo
-
-
Yuen2016
G
OXR1
2-0045-003
chr8:
107540507-107540507
C
T
intronic
De novo
-
-
Yuen2016
G
ADGRL2
2-1105-003
chr1:
82988853-82988853
A
G
intergenic
De novo
-
-
Yuen2016
G
RGS20
2-0045-003
chr8:
54822831-54822831
A
G
intronic
De novo
-
-
Yuen2016
G
LINC00535
2-0045-003
chr8:
94519497-94519497
T
C
ncRNA_intronic
De novo
-
-
Yuen2016
G
LINC01139
2-1105-003
chr1:
239554979-239554979
G
T
intergenic
De novo
-
-
Yuen2016
G
SYT15
2-1105-003
chr10:
46988738-46988738
C
T
intergenic
De novo
-
-
Yuen2016
G
LOC100129138
2-1105-003
chr1:
105931518-105931518
A
G
intergenic
De novo
-
-
Yuen2016
G
RGS18
2-1105-003
chr1:
192266439-192266439
T
A
intergenic
De novo
-
-
Yuen2016
G
CTNNA3
2-1105-003
chr10:
68585612-68585612
G
T
intronic
De novo
-
-
Yuen2016
G
KCNMA1
2-1105-003
chr10:
79179317-79179317
A
T
intronic
De novo
-
-
Yuen2016
G
LINC00844
2-1105-003
chr10:
60799966-60799966
C
T
intergenic
De novo
-
-
Yuen2016
G
LINC00845
2-1105-003
chr10:
63064778-63064778
C
T
intergenic
De novo
-
-
Yuen2016
G
LIN7A
2-1105-003
chr12:
81362574-81362574
G
A
intergenic
De novo
-
-
Yuen2016
G
RBM19
2-1105-003
chr12:
114362501-114362501
C
T
splicing
De novo
splicing
13.94
-
Yuen2016
G
DPY19L2
2-1105-003
chr12:
64008144-64008144
G
A
intronic
De novo
-
-
Yuen2016
G
PPP1R13B
2-1105-003
chr14:
104233202-104233202
T
A
intronic
De novo
-
-
Yuen2016
G
MEIS2
2-1105-003
chr15:
37285134-37285134
A
G
intronic
De novo
-
-
Yuen2016
G
SLC39A2
2-1105-003
chr14:
21476901-21476901
C
T
intergenic
De novo
-
-
Yuen2016
G
LRFN5
2-1105-003
chr14:
43713154-43713154
C
T
intergenic
De novo
-
-
Yuen2016
G
SHC4
2-1105-003
chr15:
49204325-49204325
G
T
intronic
De novo
-
-
Yuen2016
G
UACA
2-1105-003
chr15:
70994167-70994167
A
C
intronic
De novo
-
-
Yuen2016
G
EPB42
2-1105-003
chr15:
43503006-43503006
G
A
intronic
De novo
-
-
Yuen2016
G
SEMA6D
2-1105-003
chr15:
47859363-47859363
T
C
intronic
De novo
-
-
Yuen2016
G
CREBBP
2-1105-003
chr16:
3788893-3788893
A
G
intronic
De novo
-
-
Yuen2016
G
RBFOX1
2-1105-003
chr16:
7707070-7707070
G
T
intronic
De novo
-
-
Yuen2016
G
THNSL2
2-1105-003
chr2:
88692009-88692009
C
T
intergenic
De novo
-
-
Yuen2016
G
CNTNAP5
2-1105-003
chr2:
125844428-125844428
T
C
intergenic
De novo
-
-
Yuen2016
G
MIR3681HG
2-1105-003
chr2:
12531812-12531812
C
T
ncRNA_intronic
De novo
-
-
Yuen2016
G
PRKD3
2-1105-003
chr2:
37568109-37568109
G
A
intergenic
De novo
-
-
Yuen2016
G
SIRPG
2-1105-003
chr20:
1609717-1609717
A
G
downstream
De novo
-
-
Yuen2016
G
ZNF337-AS1
2-1105-003
chr20:
25638637-25638637
C
T
ncRNA_intronic
De novo
-
-
Yuen2016
G
HNMT
2-1105-003
chr2:
138837779-138837779
G
T
intergenic
De novo
-
-
Yuen2016
G
SPAG16
2-1105-003
chr2:
214276684-214276684
T
C
intronic
De novo
-
-
Yuen2016
G
EPHB1
2-1105-003
chr3:
134923206-134923206
T
A
intronic
De novo
-
-
Yuen2016
G
LOC101927854
2-1105-003
chr3:
24209179-24209179
G
A
ncRNA_intronic
De novo
-
-
Yuen2016
G
TRANK1
2-1105-003
chr3:
36918711-36918711
C
T
intronic
De novo
-
-
Yuen2016
G
2-1105-003
chr4:
17290094-17290094
T
A
intergenic
De novo
-
-
Yuen2016
G
TXK
2-1105-003
chr4:
48131897-48131897
G
A
intronic
De novo
-
-
Yuen2016
G
FBXO45
2-1105-003
chr3:
196328002-196328002
G
A
intergenic
De novo
-
-
Yuen2016
G
LINC00504
2-1105-003
chr4:
14841546-14841546
A
G
ncRNA_intronic
De novo
-
-
Yuen2016
G
CTSO
2-1105-003
chr4:
157351265-157351265
T
C
intergenic
De novo
-
-
Yuen2016
G
MIR548AG1
2-1105-003
chr4:
62163682-62163682
T
A
intergenic
De novo
-
-
Yuen2016
G
2-1105-003
chr4:
150199845-150199845
A
C
downstream
De novo
-
-
Yuen2016
G
AMPH
2-1105-003
chr7:
38633945-38633945
G
T
intronic
De novo
-
-
Yuen2016
G
CALN1
2-1105-003
chr7:
72028734-72028734
C
A
intergenic
De novo
-
-
Yuen2016
G
MIR548A1
2-1105-003
chr6:
18878140-18878140
T
A
intergenic
De novo
-
-
Yuen2016
G
MIR4465
2-1105-003
chr6:
141072928-141072928
T
C
intergenic
De novo
-
-
Yuen2016
G
LINC01507
2-1105-003
chr9:
82788331-82788331
A
G
intergenic
De novo
-
-
Yuen2016
G
ZCCHC6
2-1105-003
chr9:
89472153-89472153
T
C
intergenic
De novo
-
-
Yuen2016
G
ZMAT4
2-1105-003
chr8:
40986733-40986733
A
G
intergenic
De novo
-
-
Yuen2016
G
TMEM65
2-1105-003
chr8:
125397115-125397115
T
C
intergenic
De novo
-
-
Yuen2016
G
BRINP1
2-1105-003
chr9:
122371560-122371560
C
T
intergenic
De novo
-
-
Yuen2016
G
LINC01613
2-1105-003
chr9:
122996706-122996706
G
A
intergenic
De novo
-
-
Yuen2016
G
TXN
2-1105-003
chr9:
113025222-113025222
G
A
intergenic
De novo
-
-
Yuen2016
G
LPAR1
2-1105-003
chr9:
113689389-113689389
A
G
intronic
De novo
-
-
Yuen2016
G
LOC101927560
2-1152-003
chr1:
84324416-84324416
G
T
ncRNA_intronic
De novo
-
-
Yuen2016
G
RGS16
2-1152-003
chr1:
182582634-182582634
C
T
intergenic
De novo
-
-
Yuen2016
G
KAZN
2-1152-003
chr1:
14945824-14945824
G
C
intronic
De novo
-
-
Yuen2016
G
NEGR1
2-1152-003
chr1:
71886690-71886690
T
G
intronic
De novo
-
-
Yuen2016
G
TENM4
2-1152-003
chr11:
79611892-79611892
G
T
intergenic
De novo
-
-
Yuen2016
G
TENM4
2-1152-003
chr11:
80354523-80354523
G
A
intergenic
De novo
-
-
Yuen2016
G
PRKG1
2-1152-003
chr10:
53928619-53928619
G
A
intronic
De novo
-
-
Yuen2016
G
AQP2
2-1152-003
chr12:
50344107-50344107
G
T
upstream
De novo
-
-
Yuen2016
G
MMP13
2-1152-003
chr11:
102887041-102887041
C
A
intergenic
De novo
-
-
Yuen2016
G
NTM
2-1152-003
chr11:
132229500-132229500
C
T
intergenic
De novo
-
-
Yuen2016
G
CYFIP1
2-1152-003
chr15:
22909711-22909711
C
T
intronic
De novo
-
-
Yuen2016
G
MGAT4C
2-1152-003
chr12:
87605725-87605725
G
C
intergenic
De novo
-
-
Yuen2016
G
KATNAL1
2-1152-003
chr13:
30820830-30820830
A
T
intronic
De novo
-
-
Yuen2016
G
RAP1GAP2
2-1152-003
chr17:
2811161-2811161
C
T
intronic
De novo
-
-
Yuen2016
G
GATA6
2-1152-003
chr18:
19836747-19836747
C
T
intergenic
De novo
-
-
Yuen2016
G
MYO5C
2-1152-003
chr15:
52507567-52507567
C
T
intronic
De novo
-
-
Yuen2016
G
SHISA9
2-1152-003
chr16:
13313771-13313771
C
T
intronic
De novo
-
-
Yuen2016
G
PRKD2
2-1152-003
chr19:
47193543-47193543
C
T
intronic
De novo
-
-
Yuen2016
G
HPCAL1
2-1152-003
chr2:
10544997-10544997
G
A
intronic
De novo
-
-
Yuen2016
G
KCTD1
2-1152-003
chr18:
24060769-24060769
T
C
intronic
De novo
-
-
Yuen2016
G
CDH7
2-1152-003
chr18:
64117457-64117457
C
A
intergenic
De novo
-
-
Yuen2016
G
CNTNAP5
2-1152-003
chr2:
125842408-125842408
T
A
intergenic
De novo
-
-
Yuen2016
G
GEMIN6
2-1152-003
chr2:
39023346-39023346
G
A
intergenic
De novo
-
-
Yuen2016
G
SEPSECS-AS1
2-1152-003
chr4:
25186378-25186378
A
C
ncRNA_intronic
De novo
-
-
Yuen2016
G
IGSF11
2-1152-003
chr3:
118763962-118763962
G
A
intronic
De novo
-
-
Yuen2016
G
PARP15
2-1152-003
chr3:
122333491-122333491
T
C
intronic
De novo
-
-
Yuen2016
G
EIF4E
2-1152-003
chr4:
99812415-99812415
T
A
exonic
De novo
nonsynonymous SNV
NM_001130678
NM_001130679
NM_001968
c.A254T
c.A194T
c.A194T
p.K85M
p.K65M
p.K65M
23.7
-
Yuen2016
G
KIAA1109
2-1152-003
chr4:
123109547-123109547
A
G
intronic
De novo
-
-
Yuen2016
G
2-1152-003
chr5:
125047425-125047425
C
T
intergenic
De novo
-
-
Yuen2016
G
CHSY3
2-1152-003
chr5:
130403225-130403225
G
T
intergenic
De novo
-
-
Yuen2016
G
CDC20B
2-1152-003
chr5:
54423332-54423332
G
C
intronic
De novo
-
-
Yuen2016
G
GLRX
2-1152-003
chr5:
95181381-95181381
T
C
intergenic
De novo
-
-
Yuen2016
G
CASC15
2-1152-003
chr6:
22084543-22084543
G
T
ncRNA_intronic
De novo
-
-
Yuen2016
G
NPVF
2-1152-003
chr7:
25655935-25655935
G
A
intergenic
De novo
-
-
Yuen2016
G
MAT2B
2-1152-003
chr5:
163629388-163629388
A
G
intergenic
De novo
-
-
Yuen2016
G
LOC100130357
2-1152-003
chr6:
13281558-13281558
G
A
intronic
De novo
-
-
Yuen2016
G
LOC101927822
2-1152-003
chr8:
135224541-135224541
A
G
intergenic
De novo
-
-
Yuen2016
G
STEAP4
2-1152-003
chr7:
88162847-88162847
A
C
intergenic
De novo
-
-
Yuen2016
G
LOC101928283
2-1152-003
chr7:
125210454-125210454
G
A
intergenic
De novo
-
-
Yuen2016
G
DEC1
2-1152-003
chr9:
118207928-118207928
T
C
intergenic
De novo
-
-
Yuen2016
G
TMEM125
2-1153-003
chr1:
43742851-43742851
A
G
intergenic
De novo
-
-
Yuen2016
G
LINGO2
2-1152-003
chr9:
28108619-28108619
C
T
intronic
De novo
-
-
Yuen2016
G
TMEM215
2-1152-003
chr9:
32793514-32793514
A
G
intergenic
De novo
-
-
Yuen2016
G
MSH4
2-1153-003
chr1:
76323097-76323097
T
C
intronic
De novo
-
-
Yuen2016
G
KCNC4
2-1153-003
chr1:
110796555-110796555
C
T
intergenic
De novo
-
-
Yuen2016
G
SSBP3
2-1153-003
chr1:
54882852-54882852
T
A
intergenic
De novo
-
-
Yuen2016
G
CTH
2-1153-003
chr1:
71015386-71015386
C
T
intergenic
De novo
-
-
Yuen2016
G
2-1153-003
chr1:
190773882-190773882
G
C
intergenic
De novo
-
-
Yuen2016
G
LINC00707
2-1153-003
chr10:
7106745-7106745
G
A
intergenic
De novo
-
-
Yuen2016
G
ETV3
2-1153-003
chr1:
157311603-157311603
T
G
intergenic
De novo
-
-
Yuen2016
G
DNM3
2-1153-003
chr1:
172322736-172322736
A
G
intronic
De novo
-
-
Yuen2016
G
LOC102723330
2-1153-003
chr11:
17718466-17718466
A
T
ncRNA_exonic
De novo
-
-
Yuen2016
G
PANX1
2-1153-003
chr11:
93957534-93957534
G
A
intergenic
De novo
-
-
Yuen2016
G
PLXDC2
2-1153-003
chr10:
20707731-20707731
G
A
intergenic
De novo
-
-
Yuen2016
G
CARS
2-1153-003
chr11:
3099017-3099017
G
A
intergenic
De novo
-
-
Yuen2016
G
2-1153-003
chr12:
128709304-128709304
C
T
intergenic
De novo
-
-
Yuen2016
G
RFC3
2-1153-003
chr13:
34609129-34609129
C
T
intergenic
De novo
-
-
Yuen2016
G
2-1153-003
chr12:
74385898-74385898
T
A
intergenic
De novo
-
-
Yuen2016
G
TBX3
2-1153-003
chr12:
115261200-115261200
T
C
intergenic
De novo
-
-
Yuen2016
G
TLN2
2-1153-003
chr15:
63205403-63205403
A
G
intergenic
De novo
-
-
Yuen2016
G
RBFOX1
2-1153-003
chr16:
8055203-8055203
G
A
intergenic
De novo
-
-
Yuen2016
G
IRS2
2-1153-003
chr13:
110648410-110648410
C
T
intergenic
De novo
-
-
Yuen2016
G
SLC14A2-AS1
2-1153-003
chr18:
43079164-43079164
G
C
ncRNA_intronic
De novo
-
-
Yuen2016
G
ATP8B1
2-1153-003
chr18:
55454989-55454989
T
A
intronic
De novo
-
-
Yuen2016
G
TMEM170A
2-1153-003
chr16:
75488866-75488866
A
G
intronic
De novo
-
-
Yuen2016
G
SMG6
2-1153-003
chr17:
1974127-1974127
C
T
intronic
De novo
-
-
Yuen2016
G
BCL11A
2-1153-003
chr2:
60891121-60891121
G
A
intergenic
De novo
-
-
Yuen2016
G
REEP1
2-1153-003
chr2:
86503043-86503043
G
C
intronic
De novo
-
-
Yuen2016
G
CASP14
2-1153-003
chr19:
15166323-15166323
T
C
exonic
De novo
synonymous SNV
NM_012114
c.T603C
p.H201H
-
-
Yuen2016
G
SOX11
2-1153-003
chr2:
5895207-5895207
G
A
intergenic
De novo
-
-
Yuen2016
G
CWC22
2-1153-003
chr2:
181465929-181465929
T
C
intergenic
De novo
-
-
Yuen2016
G
2-1153-003
chr2:
182208064-182208064
G
C
ncRNA_intronic
De novo
-
-
Yuen2016
G
RPIA
2-1153-003
chr2:
89060128-89060128
G
C
intergenic
De novo
-
-
Yuen2016
G
CWC22
2-1153-003
chr2:
180832297-180832297
T
A
intronic
De novo
-
-
Yuen2016
G
PLEKHM3
2-1153-003
chr2:
208942811-208942811
A
G
intergenic
De novo
-
-
Yuen2016
G
BMP2
2-1153-003
chr20:
6862958-6862958
C
T
intergenic
De novo
-
-
Yuen2016
G
2-1153-003
chr21:
29626435-29626435
C
T
intergenic
De novo
-
-
Yuen2016
G
RUNX1
2-1153-003
chr21:
36497327-36497327
C
A
intergenic
De novo
-
-
Yuen2016
G
NCOA3
2-1153-003
chr20:
46208257-46208257
C
T
intronic
De novo
-
-
Yuen2016
G
ANKRD30BP2
2-1153-003
chr21:
14688425-14688425
C
T
intergenic
De novo
-
-
Yuen2016
G
RNF4
2-1153-003
chr4:
2515974-2515974
C
T
UTR3
De novo
-
-
Yuen2016
G
FAM184B
2-1153-003
chr4:
17762475-17762475
G
C
intronic
De novo
-
-
Yuen2016
G
ATXN10
2-1153-003
chr22:
46112581-46112581
A
T
intronic
De novo
-
-
Yuen2016
G
GRM7
2-1153-003
chr3:
7719766-7719766
G
C
intronic
De novo
-
-
Yuen2016
G
TET2
2-1153-003
chr4:
106157491-106157491
G
A
exonic
De novo
nonsynonymous SNV
NM_001127208
NM_017628
c.G2392A
c.G2392A
p.E798K
p.E798K
10.64
8.362E-6
Yuen2016
G
C4orf22
2-1153-003
chr4:
81746375-81746375
G
A
intronic
De novo
-
-
Yuen2016
G
GRID2
2-1153-003
chr4:
94086382-94086382
G
A
intronic
De novo
-
-
Yuen2016
G
IRX1
2-1153-003
chr5:
4098175-4098175
G
A
intergenic
De novo
-
-
Yuen2016
G
2-1153-003
chr5:
26279420-26279420
C
T
intergenic
De novo
-
-
Yuen2016
G
2-1153-003
chr4:
181323616-181323616
C
G
intergenic
De novo
-
-
Yuen2016
G
LINC01060
2-1153-003
chr4:
189771204-189771204
G
A
intergenic
De novo
-
-
Yuen2016
G
GFPT2
2-1153-003
chr5:
179787755-179787755
G
A
intergenic
De novo
-
-
Yuen2016
G
LOC100289230
2-1153-003
chr5:
98531735-98531735
C
T
intergenic
De novo
-
-
Yuen2016
G
NUDT12
2-1153-003
chr5:
104275935-104275935
C
A
intergenic
De novo
-
-
Yuen2016
G
EPHA7
2-1153-003
chr6:
94049757-94049757
A
C
intronic
De novo
-
-
Yuen2016
G
MIR3668
2-1153-003
chr6:
140739523-140739523
A
G
intergenic
De novo
-
-
Yuen2016
G
HDGFL1
2-1153-003
chr6:
23268111-23268111
G
C
intergenic
De novo
-
-
Yuen2016
G
TPBG
2-1153-003
chr6:
83464996-83464996
G
T
intergenic
De novo
-
-
Yuen2016
G
MAD1L1
2-1153-003
chr7:
2250455-2250455
G
A
intronic
De novo
-
-
Yuen2016
G
GUSBP10
2-1153-003
chr7:
57419604-57419604
T
C
intergenic
De novo
-
-
Yuen2016
G
MIR4465
2-1153-003
chr6:
141975516-141975516
T
C
intergenic
De novo
-
-
Yuen2016
G
T
2-1153-003
chr6:
166587934-166587934
G
A
intergenic
De novo
-
-
Yuen2016
G
XKR9
2-1153-003
chr8:
71877540-71877540
T
C
intergenic
De novo
-
-
Yuen2016
G
PTPRD
2-1153-003
chr9:
8674137-8674137
G
A
intronic
De novo
-
-
Yuen2016
G
PEG10
2-1153-003
chr7:
94365128-94365128
A
G
intergenic
De novo
-
-
Yuen2016
G
LINC-PINT
2-1153-003
chr7:
130568567-130568567
A
C
ncRNA_intronic
De novo
-
-
Yuen2016
G
SMAP2
2-1231-003
chr1:
40868173-40868173
G
A
intronic
De novo
-
-
Yuen2016
G
TSNAX-DISC1
2-1231-003
chr1:
231986431-231986431
G
A
ncRNA_intronic
De novo
-
-
Yuen2016
G
LINGO2
2-1153-003
chr9:
29893340-29893340
C
G
intergenic
De novo
-
-
Yuen2016
G
UNQ6494
2-1153-003
chr9:
92514325-92514325
G
A
intergenic
De novo
-
-
Yuen2016
G
LOC283177
2-1231-003
chr11:
134554826-134554826
A
G
intergenic
De novo
-
-
Yuen2016
G
SLCO1B7
2-1231-003
chr12:
21195028-21195028
A
G
intronic
De novo
-
-
Yuen2016
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
View
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