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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     2-0043-003chr1:
22441326-22441326
CTintergenicDe novo--Yuen2016 G
LOC100506022   2-0043-003chr1:
9528295-9528295
GCintergenicDe novo--Yuen2016 G
SVIL     2-0043-003chr10:
30142559-30142559
CTintergenicDe novo--Yuen2016 G
GPRIN2     2-0043-003chr10:
47021769-47021769
GAintergenicDe novo--Yuen2016 G
OR4C45     2-0043-003chr11:
48395727-48395727
GAintergenicDe novo--Yuen2016 G
TENM4     2-0043-003chr11:
79214694-79214694
AGintergenicDe novo--Yuen2016 G
LINC01468     2-0043-003chr10:
54247121-54247121
GAintergenicDe novo--Yuen2016 G
ADCK1     2-0043-003chr14:
78654470-78654470
CGintergenicDe novo--Yuen2016 G
ADCK1     2-0043-003chr14:
78660380-78660380
GCintergenicDe novo--Yuen2016 G
KITLG     2-0043-003chr12:
89038113-89038113
AGintergenicDe novo--Yuen2016 G
COQ7     2-0043-003chr16:
19100099-19100099
AGintergenicDe novo--Yuen2016 G
2-0043-003chr14:
98090365-98090365
CAintergenicDe novo--Yuen2016 G
TLN2     2-0043-003chr15:
63219880-63219880
CGintergenicDe novo--Yuen2016 G
MIR4318     2-0043-003chr18:
36099894-36099894
CAintergenicDe novo--Yuen2016 G
MISP     2-0043-003chr19:
753365-753365
GAintronicDe novo--Yuen2016 G
RBM38     2-0043-003chr20:
55975574-55975574
GTintronicDe novo--Yuen2016 G
SLCO4A1     2-0043-003chr20:
61203422-61203422
CAintergenicDe novo--Yuen2016 G
MYO3B     2-0043-003chr2:
171169891-171169891
ATintronicDe novo--Yuen2016 G
ABHD12     2-0043-003chr20:
25317264-25317264
CAintronicDe novo--Yuen2016 G
NMNAT3     2-0043-003chr3:
139523120-139523120
GTintergenicDe novo--Yuen2016 G
MPPED1     2-0043-003chr22:
43828105-43828105
GCintronicDe novo--Yuen2016 G
LINC00901     2-0043-003chr3:
116836466-116836466
CTintergenicDe novo--Yuen2016 G
MIR3660     2-0043-003chr5:
88696204-88696204
CTintergenicDe novo--Yuen2016 G
RANBP9     2-0043-003chr6:
13671544-13671544
AGintronicDe novo--Yuen2016 G
2-0043-003chr4:
12375458-12375458
CTintergenicDe novo--Yuen2016 G
MAD2L1     2-0043-003chr4:
121494930-121494930
GAintergenicDe novo--Yuen2016 G
DPY19L1     2-0043-003chr7:
34997969-34997969
GAintronicDe novo--Yuen2016 G
FAM3C     2-0043-003chr7:
121116635-121116635
ACintergenicDe novo--Yuen2016 G
DCDC2     2-0043-003chr6:
24296109-24296109
GAintronicDe novo--Yuen2016 G
IGF2R     2-0043-003chr6:
160499238-160499238
GAexonicDe novosynonymous SNVNM_000876c.G5322Ap.T1774T-2.0E-4Yuen2016 G
DPP6     2-0043-003chr7:
153873847-153873847
CTintronicDe novo--Yuen2016 G
KCNV1     2-0043-003chr8:
111664436-111664436
CTintergenicDe novo--Yuen2016 G
AOC1     2-0043-003chr7:
150593186-150593186
GAintergenicDe novo--Yuen2016 G
LINC01505     2-0043-003chr9:
109426365-109426365
CTncRNA_intronicDe novo--Yuen2016 G
OLFM1     2-0043-003chr9:
137976406-137976406
GCintronicDe novo--Yuen2016 G
ANKS6     2-0043-003chr9:
101530828-101530828
CGintronicDe novo--Yuen2016 G
ZNF644     2-0045-003chr1:
91642700-91642700
CAintergenicDe novo--Yuen2016 G
LOC730102    2-0045-003chr1:
178015365-178015365
GAintergenicDe novo--Yuen2016 G
CAMTA1     2-0045-003chr1:
7205006-7205006
CTintronicDe novo--Yuen2016 G
OMA1     2-0045-003chr1:
58947661-58947661
GCintronicDe novo--Yuen2016 G
RET     2-0045-003chr10:
43606501-43606501
CGintronicDe novo--Yuen2016 G
CYP2C18     2-0045-003chr10:
96503334-96503334
CAintergenicDe novo--Yuen2016 G
SYT2     2-0045-003chr1:
202589119-202589119
CGintronicDe novo--Yuen2016 G
HLX-AS1     2-0045-003chr1:
221018652-221018652
CAncRNA_intronicDe novo--Yuen2016 G
ARHGAP20     2-0045-003chr11:
110550120-110550120
TCintronicDe novo--Yuen2016 G
PPFIA2     2-0045-003chr12:
82307284-82307284
CAintergenicDe novo--Yuen2016 G
SPRN     2-0045-003chr10:
135261835-135261835
TCintergenicDe novo--Yuen2016 G
MS4A10     2-0045-003chr11:
60605448-60605448
CAintergenicDe novo--Yuen2016 G
LINC00399     2-0045-003chr13:
110320134-110320134
CTintergenicDe novo--Yuen2016 G
SRRM2     2-0045-003chr16:
2813215-2813215
CTexonicDe novononsynonymous SNVNM_016333c.C2686Tp.P896S0.008-Yuen2016 G
LDLRAD4     2-0045-003chr18:
13646697-13646697
ATUTR3De novo--Yuen2016 G
OSBPL1A     2-0045-003chr18:
21875331-21875331
ACintronicDe novo--Yuen2016 G
SALL1     2-0045-003chr16:
51401094-51401094
TCintergenicDe novo--Yuen2016 G
NCKAP5     2-0045-003chr2:
134553215-134553215
GAintergenicDe novo--Yuen2016 G
DOCK10     2-0045-003chr2:
226069324-226069324
GAintergenicDe novo--Yuen2016 G
ZNF98     2-0045-003chr19:
22694327-22694327
CTintergenicDe novo--Yuen2016 G
MYT1L-AS1     2-0045-003chr2:
2325825-2325825
AGncRNA_intronicDe novo--Yuen2016 G
VAPB     2-0045-003chr20:
56968707-56968707
CTintronicDe novo--Yuen2016 G
CDH4     2-0045-003chr20:
59867546-59867546
ACintronicDe novo--Yuen2016 G
MROH8     2-0045-003chr20:
35788537-35788537
TGexonicDe novounknown5.062-Yuen2016 G
KY     2-0045-003chr3:
134448845-134448845
CTintergenicDe novo--Yuen2016 G
OTOL1     2-0045-003chr3:
161250923-161250923
AGintergenicDe novo--Yuen2016 G
TRAK1     2-0045-003chr3:
42172644-42172644
AGintronicDe novo--Yuen2016 G
RYBP     2-0045-003chr3:
72505606-72505606
CTintergenicDe novo--Yuen2016 G
ECE2     2-0045-003chr3:
184007415-184007415
CTintronicDe novo--Yuen2016 G
EVC2     2-0045-003chr4:
5576169-5576169
CAintronicDe novo--Yuen2016 G
BCHE     2-0045-003chr3:
165816380-165816380
GTintergenicDe novo--Yuen2016 G
ABCC5     2-0045-003chr3:
183664132-183664132
GAintronicDe novo--Yuen2016 G
GPAT3     2-0045-003chr4:
84597956-84597956
ACintergenicDe novo--Yuen2016 G
2-0045-003chr4:
174953024-174953024
GTintergenicDe novo--Yuen2016 G
2-0045-003chr4:
40316484-40316484
GCncRNA_intronicDe novo--Yuen2016 G
ATP10D     2-0045-003chr4:
47496011-47496011
AGintronicDe novo--Yuen2016 G
2-0045-003chr5:
50342768-50342768
CTintergenicDe novo--Yuen2016 G
NLN     2-0045-003chr5:
65152701-65152701
AGintergenicDe novo--Yuen2016 G
SNX25     2-0045-003chr4:
186156665-186156665
GAintronicDe novo--Yuen2016 G
MIR4277     2-0045-003chr5:
1750419-1750419
GAintergenicDe novo--Yuen2016 G
HSPA9     2-0045-003chr5:
137944988-137944988
GAintergenicDe novo--Yuen2016 G
EYS     2-0045-003chr6:
64634412-64634412
AGintronicDe novo--Yuen2016 G
LOC100289230   2-0045-003chr5:
98566437-98566437
GAintergenicDe novo--Yuen2016 G
PRKN     2-0045-003chr6:
162177013-162177013
GAintronicDe novo--Yuen2016 G
MSRA     2-0045-003chr8:
10297973-10297973
CTintergenicDe novo--Yuen2016 G
KCNQ5     2-0045-003chr6:
73526611-73526611
TCintronicDe novo--Yuen2016 G
RFPL4B     2-0045-003chr6:
113635604-113635604
ACintergenicDe novo--Yuen2016 G
OXR1     2-0045-003chr8:
107540507-107540507
CTintronicDe novo--Yuen2016 G
ADGRL2     2-1105-003chr1:
82988853-82988853
AGintergenicDe novo--Yuen2016 G
RGS20     2-0045-003chr8:
54822831-54822831
AGintronicDe novo--Yuen2016 G
LINC00535     2-0045-003chr8:
94519497-94519497
TCncRNA_intronicDe novo--Yuen2016 G
LINC01139     2-1105-003chr1:
239554979-239554979
GTintergenicDe novo--Yuen2016 G
SYT15     2-1105-003chr10:
46988738-46988738
CTintergenicDe novo--Yuen2016 G
LOC100129138    2-1105-003chr1:
105931518-105931518
AGintergenicDe novo--Yuen2016 G
RGS18     2-1105-003chr1:
192266439-192266439
TAintergenicDe novo--Yuen2016 G
CTNNA3     2-1105-003chr10:
68585612-68585612
GTintronicDe novo--Yuen2016 G
KCNMA1     2-1105-003chr10:
79179317-79179317
ATintronicDe novo--Yuen2016 G
LINC00844   2-1105-003chr10:
60799966-60799966
CTintergenicDe novo--Yuen2016 G
LINC00845     2-1105-003chr10:
63064778-63064778
CTintergenicDe novo--Yuen2016 G
LIN7A     2-1105-003chr12:
81362574-81362574
GAintergenicDe novo--Yuen2016 G
RBM19     2-1105-003chr12:
114362501-114362501
CTsplicingDe novosplicing13.94-Yuen2016 G
DPY19L2     2-1105-003chr12:
64008144-64008144
GAintronicDe novo--Yuen2016 G
PPP1R13B     2-1105-003chr14:
104233202-104233202
TAintronicDe novo--Yuen2016 G
MEIS2     2-1105-003chr15:
37285134-37285134
AGintronicDe novo--Yuen2016 G
SLC39A2     2-1105-003chr14:
21476901-21476901
CTintergenicDe novo--Yuen2016 G
LRFN5     2-1105-003chr14:
43713154-43713154
CTintergenicDe novo--Yuen2016 G
SHC4     2-1105-003chr15:
49204325-49204325
GTintronicDe novo--Yuen2016 G
UACA     2-1105-003chr15:
70994167-70994167
ACintronicDe novo--Yuen2016 G
EPB42     2-1105-003chr15:
43503006-43503006
GAintronicDe novo--Yuen2016 G
SEMA6D     2-1105-003chr15:
47859363-47859363
TCintronicDe novo--Yuen2016 G
CREBBP     2-1105-003chr16:
3788893-3788893
AGintronicDe novo--Yuen2016 G
RBFOX1     2-1105-003chr16:
7707070-7707070
GTintronicDe novo--Yuen2016 G
THNSL2     2-1105-003chr2:
88692009-88692009
CTintergenicDe novo--Yuen2016 G
CNTNAP5     2-1105-003chr2:
125844428-125844428
TCintergenicDe novo--Yuen2016 G
MIR3681HG     2-1105-003chr2:
12531812-12531812
CTncRNA_intronicDe novo--Yuen2016 G
PRKD3     2-1105-003chr2:
37568109-37568109
GAintergenicDe novo--Yuen2016 G
SIRPG     2-1105-003chr20:
1609717-1609717
AGdownstreamDe novo--Yuen2016 G
ZNF337-AS1     2-1105-003chr20:
25638637-25638637
CTncRNA_intronicDe novo--Yuen2016 G
HNMT     2-1105-003chr2:
138837779-138837779
GTintergenicDe novo--Yuen2016 G
SPAG16     2-1105-003chr2:
214276684-214276684
TCintronicDe novo--Yuen2016 G
EPHB1     2-1105-003chr3:
134923206-134923206
TAintronicDe novo--Yuen2016 G
LOC101927854   2-1105-003chr3:
24209179-24209179
GAncRNA_intronicDe novo--Yuen2016 G
TRANK1     2-1105-003chr3:
36918711-36918711
CTintronicDe novo--Yuen2016 G
2-1105-003chr4:
17290094-17290094
TAintergenicDe novo--Yuen2016 G
TXK     2-1105-003chr4:
48131897-48131897
GAintronicDe novo--Yuen2016 G
FBXO45     2-1105-003chr3:
196328002-196328002
GAintergenicDe novo--Yuen2016 G
LINC00504     2-1105-003chr4:
14841546-14841546
AGncRNA_intronicDe novo--Yuen2016 G
CTSO     2-1105-003chr4:
157351265-157351265
TCintergenicDe novo--Yuen2016 G
MIR548AG1     2-1105-003chr4:
62163682-62163682
TAintergenicDe novo--Yuen2016 G
2-1105-003chr4:
150199845-150199845
ACdownstreamDe novo--Yuen2016 G
AMPH     2-1105-003chr7:
38633945-38633945
GTintronicDe novo--Yuen2016 G
CALN1     2-1105-003chr7:
72028734-72028734
CAintergenicDe novo--Yuen2016 G
MIR548A1     2-1105-003chr6:
18878140-18878140
TAintergenicDe novo--Yuen2016 G
MIR4465     2-1105-003chr6:
141072928-141072928
TCintergenicDe novo--Yuen2016 G
LINC01507   2-1105-003chr9:
82788331-82788331
AGintergenicDe novo--Yuen2016 G
ZCCHC6     2-1105-003chr9:
89472153-89472153
TCintergenicDe novo--Yuen2016 G
ZMAT4     2-1105-003chr8:
40986733-40986733
AGintergenicDe novo--Yuen2016 G
TMEM65     2-1105-003chr8:
125397115-125397115
TCintergenicDe novo--Yuen2016 G
BRINP1     2-1105-003chr9:
122371560-122371560
CTintergenicDe novo--Yuen2016 G
LINC01613     2-1105-003chr9:
122996706-122996706
GAintergenicDe novo--Yuen2016 G
TXN     2-1105-003chr9:
113025222-113025222
GAintergenicDe novo--Yuen2016 G
LPAR1     2-1105-003chr9:
113689389-113689389
AGintronicDe novo--Yuen2016 G
LOC101927560    2-1152-003chr1:
84324416-84324416
GTncRNA_intronicDe novo--Yuen2016 G
RGS16     2-1152-003chr1:
182582634-182582634
CTintergenicDe novo--Yuen2016 G
KAZN     2-1152-003chr1:
14945824-14945824
GCintronicDe novo--Yuen2016 G
NEGR1     2-1152-003chr1:
71886690-71886690
TGintronicDe novo--Yuen2016 G
TENM4     2-1152-003chr11:
79611892-79611892
GTintergenicDe novo--Yuen2016 G
TENM4     2-1152-003chr11:
80354523-80354523
GAintergenicDe novo--Yuen2016 G
PRKG1     2-1152-003chr10:
53928619-53928619
GAintronicDe novo--Yuen2016 G
AQP2     2-1152-003chr12:
50344107-50344107
GTupstreamDe novo--Yuen2016 G
MMP13     2-1152-003chr11:
102887041-102887041
CAintergenicDe novo--Yuen2016 G
NTM     2-1152-003chr11:
132229500-132229500
CTintergenicDe novo--Yuen2016 G
CYFIP1     2-1152-003chr15:
22909711-22909711
CTintronicDe novo--Yuen2016 G
MGAT4C     2-1152-003chr12:
87605725-87605725
GCintergenicDe novo--Yuen2016 G
KATNAL1     2-1152-003chr13:
30820830-30820830
ATintronicDe novo--Yuen2016 G
RAP1GAP2     2-1152-003chr17:
2811161-2811161
CTintronicDe novo--Yuen2016 G
GATA6     2-1152-003chr18:
19836747-19836747
CTintergenicDe novo--Yuen2016 G
MYO5C     2-1152-003chr15:
52507567-52507567
CTintronicDe novo--Yuen2016 G
SHISA9     2-1152-003chr16:
13313771-13313771
CTintronicDe novo--Yuen2016 G
PRKD2     2-1152-003chr19:
47193543-47193543
CTintronicDe novo--Yuen2016 G
HPCAL1     2-1152-003chr2:
10544997-10544997
GAintronicDe novo--Yuen2016 G
KCTD1     2-1152-003chr18:
24060769-24060769
TCintronicDe novo--Yuen2016 G
CDH7     2-1152-003chr18:
64117457-64117457
CAintergenicDe novo--Yuen2016 G
CNTNAP5     2-1152-003chr2:
125842408-125842408
TAintergenicDe novo--Yuen2016 G
GEMIN6     2-1152-003chr2:
39023346-39023346
GAintergenicDe novo--Yuen2016 G
SEPSECS-AS1   2-1152-003chr4:
25186378-25186378
ACncRNA_intronicDe novo--Yuen2016 G
IGSF11     2-1152-003chr3:
118763962-118763962
GAintronicDe novo--Yuen2016 G
PARP15     2-1152-003chr3:
122333491-122333491
TCintronicDe novo--Yuen2016 G
EIF4E     2-1152-003chr4:
99812415-99812415
TAexonicDe novononsynonymous SNVNM_001130678
NM_001130679
NM_001968
c.A254T
c.A194T
c.A194T
p.K85M
p.K65M
p.K65M
23.7-Yuen2016 G
KIAA1109     2-1152-003chr4:
123109547-123109547
AGintronicDe novo--Yuen2016 G
2-1152-003chr5:
125047425-125047425
CTintergenicDe novo--Yuen2016 G
CHSY3     2-1152-003chr5:
130403225-130403225
GTintergenicDe novo--Yuen2016 G
CDC20B     2-1152-003chr5:
54423332-54423332
GCintronicDe novo--Yuen2016 G
GLRX     2-1152-003chr5:
95181381-95181381
TCintergenicDe novo--Yuen2016 G
CASC15     2-1152-003chr6:
22084543-22084543
GTncRNA_intronicDe novo--Yuen2016 G
NPVF     2-1152-003chr7:
25655935-25655935
GAintergenicDe novo--Yuen2016 G
MAT2B     2-1152-003chr5:
163629388-163629388
AGintergenicDe novo--Yuen2016 G
LOC100130357   2-1152-003chr6:
13281558-13281558
GAintronicDe novo--Yuen2016 G
LOC101927822    2-1152-003chr8:
135224541-135224541
AGintergenicDe novo--Yuen2016 G
STEAP4     2-1152-003chr7:
88162847-88162847
ACintergenicDe novo--Yuen2016 G
LOC101928283    2-1152-003chr7:
125210454-125210454
GAintergenicDe novo--Yuen2016 G
DEC1     2-1152-003chr9:
118207928-118207928
TCintergenicDe novo--Yuen2016 G
TMEM125     2-1153-003chr1:
43742851-43742851
AGintergenicDe novo--Yuen2016 G
LINGO2     2-1152-003chr9:
28108619-28108619
CTintronicDe novo--Yuen2016 G
TMEM215     2-1152-003chr9:
32793514-32793514
AGintergenicDe novo--Yuen2016 G
MSH4     2-1153-003chr1:
76323097-76323097
TCintronicDe novo--Yuen2016 G
KCNC4     2-1153-003chr1:
110796555-110796555
CTintergenicDe novo--Yuen2016 G
SSBP3     2-1153-003chr1:
54882852-54882852
TAintergenicDe novo--Yuen2016 G
CTH     2-1153-003chr1:
71015386-71015386
CTintergenicDe novo--Yuen2016 G
2-1153-003chr1:
190773882-190773882
GCintergenicDe novo--Yuen2016 G
LINC00707     2-1153-003chr10:
7106745-7106745
GAintergenicDe novo--Yuen2016 G
ETV3     2-1153-003chr1:
157311603-157311603
TGintergenicDe novo--Yuen2016 G
DNM3     2-1153-003chr1:
172322736-172322736
AGintronicDe novo--Yuen2016 G
LOC102723330    2-1153-003chr11:
17718466-17718466
ATncRNA_exonicDe novo--Yuen2016 G
PANX1     2-1153-003chr11:
93957534-93957534
GAintergenicDe novo--Yuen2016 G
PLXDC2     2-1153-003chr10:
20707731-20707731
GAintergenicDe novo--Yuen2016 G
CARS     2-1153-003chr11:
3099017-3099017
GAintergenicDe novo--Yuen2016 G
2-1153-003chr12:
128709304-128709304
CTintergenicDe novo--Yuen2016 G
RFC3     2-1153-003chr13:
34609129-34609129
CTintergenicDe novo--Yuen2016 G
2-1153-003chr12:
74385898-74385898
TAintergenicDe novo--Yuen2016 G
TBX3     2-1153-003chr12:
115261200-115261200
TCintergenicDe novo--Yuen2016 G
TLN2     2-1153-003chr15:
63205403-63205403
AGintergenicDe novo--Yuen2016 G
RBFOX1     2-1153-003chr16:
8055203-8055203
GAintergenicDe novo--Yuen2016 G
IRS2     2-1153-003chr13:
110648410-110648410
CTintergenicDe novo--Yuen2016 G
SLC14A2-AS1   2-1153-003chr18:
43079164-43079164
GCncRNA_intronicDe novo--Yuen2016 G
ATP8B1     2-1153-003chr18:
55454989-55454989
TAintronicDe novo--Yuen2016 G
TMEM170A     2-1153-003chr16:
75488866-75488866
AGintronicDe novo--Yuen2016 G
SMG6     2-1153-003chr17:
1974127-1974127
CTintronicDe novo--Yuen2016 G
BCL11A     2-1153-003chr2:
60891121-60891121
GAintergenicDe novo--Yuen2016 G
REEP1     2-1153-003chr2:
86503043-86503043
GCintronicDe novo--Yuen2016 G
CASP14     2-1153-003chr19:
15166323-15166323
TCexonicDe novosynonymous SNVNM_012114c.T603Cp.H201H--Yuen2016 G
SOX11     2-1153-003chr2:
5895207-5895207
GAintergenicDe novo--Yuen2016 G
CWC22     2-1153-003chr2:
181465929-181465929
TCintergenicDe novo--Yuen2016 G
2-1153-003chr2:
182208064-182208064
GCncRNA_intronicDe novo--Yuen2016 G
RPIA     2-1153-003chr2:
89060128-89060128
GCintergenicDe novo--Yuen2016 G
CWC22     2-1153-003chr2:
180832297-180832297
TAintronicDe novo--Yuen2016 G
PLEKHM3     2-1153-003chr2:
208942811-208942811
AGintergenicDe novo--Yuen2016 G
BMP2     2-1153-003chr20:
6862958-6862958
CTintergenicDe novo--Yuen2016 G
2-1153-003chr21:
29626435-29626435
CTintergenicDe novo--Yuen2016 G
RUNX1     2-1153-003chr21:
36497327-36497327
CAintergenicDe novo--Yuen2016 G
NCOA3     2-1153-003chr20:
46208257-46208257
CTintronicDe novo--Yuen2016 G
ANKRD30BP2   2-1153-003chr21:
14688425-14688425
CTintergenicDe novo--Yuen2016 G
RNF4     2-1153-003chr4:
2515974-2515974
CTUTR3De novo--Yuen2016 G
FAM184B     2-1153-003chr4:
17762475-17762475
GCintronicDe novo--Yuen2016 G
ATXN10     2-1153-003chr22:
46112581-46112581
ATintronicDe novo--Yuen2016 G
GRM7     2-1153-003chr3:
7719766-7719766
GCintronicDe novo--Yuen2016 G
TET2     2-1153-003chr4:
106157491-106157491
GAexonicDe novononsynonymous SNVNM_001127208
NM_017628
c.G2392A
c.G2392A
p.E798K
p.E798K
10.648.362E-6Yuen2016 G
C4orf22     2-1153-003chr4:
81746375-81746375
GAintronicDe novo--Yuen2016 G
GRID2     2-1153-003chr4:
94086382-94086382
GAintronicDe novo--Yuen2016 G
IRX1     2-1153-003chr5:
4098175-4098175
GAintergenicDe novo--Yuen2016 G
2-1153-003chr5:
26279420-26279420
CTintergenicDe novo--Yuen2016 G
2-1153-003chr4:
181323616-181323616
CGintergenicDe novo--Yuen2016 G
LINC01060     2-1153-003chr4:
189771204-189771204
GAintergenicDe novo--Yuen2016 G
GFPT2     2-1153-003chr5:
179787755-179787755
GAintergenicDe novo--Yuen2016 G
LOC100289230   2-1153-003chr5:
98531735-98531735
CTintergenicDe novo--Yuen2016 G
NUDT12     2-1153-003chr5:
104275935-104275935
CAintergenicDe novo--Yuen2016 G
EPHA7     2-1153-003chr6:
94049757-94049757
ACintronicDe novo--Yuen2016 G
MIR3668     2-1153-003chr6:
140739523-140739523
AGintergenicDe novo--Yuen2016 G
HDGFL1     2-1153-003chr6:
23268111-23268111
GCintergenicDe novo--Yuen2016 G
TPBG     2-1153-003chr6:
83464996-83464996
GTintergenicDe novo--Yuen2016 G
MAD1L1     2-1153-003chr7:
2250455-2250455
GAintronicDe novo--Yuen2016 G
GUSBP10   2-1153-003chr7:
57419604-57419604
TCintergenicDe novo--Yuen2016 G
MIR4465     2-1153-003chr6:
141975516-141975516
TCintergenicDe novo--Yuen2016 G
T     2-1153-003chr6:
166587934-166587934
GAintergenicDe novo--Yuen2016 G
XKR9     2-1153-003chr8:
71877540-71877540
TCintergenicDe novo--Yuen2016 G
PTPRD     2-1153-003chr9:
8674137-8674137
GAintronicDe novo--Yuen2016 G
PEG10     2-1153-003chr7:
94365128-94365128
AGintergenicDe novo--Yuen2016 G
LINC-PINT     2-1153-003chr7:
130568567-130568567
ACncRNA_intronicDe novo--Yuen2016 G
SMAP2     2-1231-003chr1:
40868173-40868173
GAintronicDe novo--Yuen2016 G
TSNAX-DISC1     2-1231-003chr1:
231986431-231986431
GAncRNA_intronicDe novo--Yuen2016 G
LINGO2     2-1153-003chr9:
29893340-29893340
CGintergenicDe novo--Yuen2016 G
UNQ6494    2-1153-003chr9:
92514325-92514325
GAintergenicDe novo--Yuen2016 G
LOC283177   2-1231-003chr11:
134554826-134554826
AGintergenicDe novo--Yuen2016 G
SLCO1B7     2-1231-003chr12:
21195028-21195028
AGintronicDe novo--Yuen2016 G
Source Variant Information

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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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