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Results for "Marques2022"

Variant Events: 297

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
EXOSC10     Marques2022:6chr1:
11147924-11147924
GAexonicnonsynonymous SNVNM_001001998
NM_002685
c.C878T
c.C878T
p.S293F
p.S293F
17.588.251E-6Marques2022 ET
EXOSC10     Marques2022:5chr1:
11147872-11147872
ACexonicnonsynonymous SNVNM_001001998
NM_002685
c.T930G
c.T930G
p.F310L
p.F310L
15.12-Marques2022 ET
EXOSC10     Marques2022:8chr1:
11155907-11155907
GAexonicnonsynonymous SNVNM_001001998
NM_002685
c.C280T
c.C280T
p.R94C
p.R94C
22.78.237E-6Marques2022 ET
EXOSC10     Marques2022:7chr1:
11147945-11147945
GAexonicnonsynonymous SNVNM_001001998
NM_002685
c.C857T
c.C857T
p.T286I
p.T286I
17.83-Marques2022 ET
EXOSC10     Marques2022:2chr1:
11140876-11140877
GAGexonicframeshift deletionNM_001001998
NM_002685
c.1530delT
c.1530delT
p.F510fs
p.F510fs
--Marques2022 ET
EXOSC10     Marques2022:1chr1:
11140608-11140608
TCsplicingsplicing14.928.425E-6Marques2022 ET
EXOSC10     Marques2022:4chr1:
11147637-11147637
GTexonicstopgainNM_001001998
NM_002685
c.C957A
c.C957A
p.Y319X
p.Y319X
36.0-Marques2022 ET
EXOSC10     Marques2022:3chr1:
11141171-11141171
CTexonicnonsynonymous SNVNM_001001998
NM_002685
c.G1405A
c.G1405A
p.V469M
p.V469M
35.0-Marques2022 ET
SMG5     Marques2022:14chr1:
156231165-156231165
AGexonicnonsynonymous SNVNM_015327c.T2066Cp.L689S28.6-Marques2022 ET
SMG5     Marques2022:13chr1:
156228924-156228924
AGexonicnonsynonymous SNVNM_015327c.T2314Cp.F772L32.0-Marques2022 ET
SMG5     Marques2022:16chr1:
156233299-156233299
GAexonicnonsynonymous SNVNM_015327c.C1918Tp.R640C21.55.781E-5Marques2022 ET
SMG5     Marques2022:15chr1:
156231189-156231189
CGexonicnonsynonymous SNVNM_015327c.G2042Cp.S681T25.61.65E-5Marques2022 ET
MOV10     Marques2022:10chr1:
113232525-113232525
TCexonicnonsynonymous SNVNM_001130079
NM_020963
NM_001286072
c.T641C
c.T641C
c.T473C
p.V214A
p.V214A
p.V158A
25.8-Marques2022 ET
MOV10     Marques2022:9chr1:
113232272-113232272
GCexonicnonsynonymous SNVNM_001130079
NM_020963
NM_001286072
c.G577C
c.G577C
c.G409C
p.G193R
p.G193R
p.G137R
18.05-Marques2022 ET
SMG5     Marques2022:12chr1:
156220780-156220780
AGexonicnonsynonymous SNVNM_015327c.T2836Cp.Y946H21.41.0E-4Marques2022 ET
MOV10     Marques2022:11chr1:
113240930-113240930
GAexonicnonsynonymous SNVNM_001130079
NM_020963
NM_001286072
c.G2338A
c.G2338A
c.G2170A
p.G780S
p.G780S
p.G724S
29.4-Marques2022 ET
SMG5     Marques2022:22chr1:
156244418-156244418
GAexonicnonsynonymous SNVNM_015327c.C514Tp.H172Y19.391.647E-5Marques2022 ET
SMG5     Marques2022:21chr1:
156237971-156237971
ACexonicnonsynonymous SNVNM_015327c.T843Gp.C281W17.277.0E-4Marques2022 ET
SMG7     Marques2022:24chr1:
183495800-183495800
ATexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.A256T
c.A382T
c.A382T
c.A382T
p.I86F
p.I128F
p.I128F
p.I128F
21.8-Marques2022 ET
SMG7     Marques2022:23chr1:
183485030-183485030
AGexonicnonsynonymous SNVNM_173156
NM_201568
NM_201569
c.A83G
c.A83G
c.A83G
p.E28G
p.E28G
p.E28G
31.0-Marques2022 ET
SMG5     Marques2022:18chr1:
156235857-156235857
CTexonicnonsynonymous SNVNM_015327c.G1570Ap.D524N29.08.239E-6Marques2022 ET
SMG5     Marques2022:17chr1:
156235692-156235692
GAexonicnonsynonymous SNVNM_015327c.C1735Tp.R579C25.7-Marques2022 ET
SMG5     Marques2022:20chr1:
156236048-156236048
CTexonicnonsynonymous SNVNM_015327c.G1379Ap.R460H28.68.244E-6Marques2022 ET
SMG5     Marques2022:19chr1:
156235910-156235910
GAexonicnonsynonymous SNVNM_015327c.C1517Tp.T506M27.34.944E-5Marques2022 ET
SMG7     Marques2022:30chr1:
183514391-183514391
ACexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.A2188C
c.A2314C
c.A2176C
c.A2176C
p.T730P
p.T772P
p.T726P
p.T726P
21.94.961E-5Marques2022 ET
SMG7     Marques2022:29chr1:
183514098-183514098
CAexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.C1895A
c.C2021A
c.C1883A
c.C1883A
p.P632H
p.P674H
p.P628H
p.P628H
22.30.004Marques2022 ET
SMG7     Marques2022:32chr1:
183519894-183519894
AGexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.A3016G
c.A2992G
c.A2854G
c.A3004G
p.T1006A
p.T998A
p.T952A
p.T1002A
24.2-Marques2022 ET
SMG7     Marques2022:31chr1:
183518978-183518978
CTexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.C2927T
c.C2903T
c.C2765T
c.C2915T
p.P976L
p.P968L
p.P922L
p.P972L
18.4-Marques2022 ET
SMG7     Marques2022:26chr1:
183511350-183511350
GCexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.G1429C
c.G1555C
c.G1555C
c.G1555C
p.G477R
p.G519R
p.G519R
p.G519R
23.83.0E-4Marques2022 ET
SMG7     Marques2022:25chr1:
183498535-183498535
GAexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.G584A
c.G710A
c.G710A
c.G710A
p.R195Q
p.R237Q
p.R237Q
p.R237Q
23.81.0E-4Marques2022 ET
SMG7     Marques2022:28chr1:
183514098-183514098
CAexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.C1895A
c.C2021A
c.C1883A
c.C1883A
p.P632H
p.P674H
p.P628H
p.P628H
22.30.004Marques2022 ET
SMG7     Marques2022:27chr1:
183513518-183513518
CTexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.C1747T
c.C1873T
c.C1735T
c.C1735T
p.P583S
p.P625S
p.P579S
p.P579S
21.48.249E-6Marques2022 ET
GNL2     Marques2022:38chr1:
38040295-38040295
GAexonicnonsynonymous SNVNM_013285c.C1273Tp.L425F22.4-Marques2022 ET
GNL2     Marques2022:37chr1:
38032607-38032607
CTexonicnonsynonymous SNVNM_013285c.G2045Ap.R682Q23.40.0012Marques2022 ET
GNL2     Marques2022:40chr1:
38048426-38048426
GTexonicnonsynonymous SNVNM_013285c.C748Ap.L250I20.5-Marques2022 ET
GNL2     Marques2022:39chr1:
38048425-38048425
AGexonicnonsynonymous SNVNM_013285c.T749Cp.L250P26.3-Marques2022 ET
SMG7     Marques2022:34chr1:
183520048-183520048
ATexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.A3170T
c.A3146T
c.A3008T
c.A3158T
p.D1057V
p.D1049V
p.D1003V
p.D1053V
23.50.0022Marques2022 ET
SMG7     Marques2022:33chr1:
183520043-183520043
ACexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.A3165C
c.A3141C
c.A3003C
c.A3153C
p.K1055N
p.K1047N
p.K1001N
p.K1051N
18.545.0E-4Marques2022 ET
GNL2     Marques2022:36chr1:
38032584-38032584
GAexonicnonsynonymous SNVNM_013285c.C2068Tp.R690W15.275.768E-5Marques2022 ET
SMG7     Marques2022:35chr1:
183520216-183520216
CTexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.C3215T
c.C3191T
c.C3053T
c.C3203T
p.T1072M
p.T1064M
p.T1018M
p.T1068M
17.059.068E-5Marques2022 ET
GNL2     Marques2022:46chr1:
38056362-38056362
AGexonicnonsynonymous SNVNM_013285c.T329Cp.V110A32.0-Marques2022 ET
GNL2     Marques2022:45chr1:
38056336-38056336
AGexonicnonsynonymous SNVNM_013285c.T355Cp.S119P26.4-Marques2022 ET
GNL2     Marques2022:48chr1:
38059364-38059364
TCexonicnonsynonymous SNVNM_013285c.A148Gp.R50G22.46.602E-5Marques2022 ET
GNL2     Marques2022:47chr1:
38058381-38058381
GAexonicnonsynonymous SNVNM_013285c.C176Tp.P59L19.213.0E-4Marques2022 ET
GNL2     Marques2022:42chr1:
38049504-38049504
CGexonicnonsynonymous SNVNM_013285c.G600Cp.K200N17.857.0E-4Marques2022 ET
GNL2     Marques2022:41chr1:
38049504-38049504
CGexonicnonsynonymous SNVNM_013285c.G600Cp.K200N17.857.0E-4Marques2022 ET
GNL2     Marques2022:44chr1:
38053077-38053077
ACexonicnonsynonymous SNVNM_013285c.T404Gp.L135R17.78.274E-6Marques2022 ET
GNL2     Marques2022:43chr1:
38053027-38053027
GAexonicstopgainNM_013285c.C454Tp.R152X35.0-Marques2022 ET
MAGOHB     Marques2022:54chr12:
10766088-10766088
TAexonicnonsynonymous SNVNM_018048c.A44Tp.H15L27.9-Marques2022 ET
UPF2     Marques2022:53chr10:
12071255-12071255
CTexonicnonsynonymous SNVNM_015542
NM_080599
c.G634A
c.G634A
p.A212T
p.A212T
29.84.985E-5Marques2022 ET
UPF3A     Marques2022:56chr13:
115048398-115048398
AGexonicnonsynonymous SNVNM_023011
NM_080687
c.A401G
c.A401G
p.Y134C
p.Y134C
15.713.0E-4Marques2022 ET
UPF3A     Marques2022:55chr13:
115048328-115048328
TCexonicnonsynonymous SNVNM_023011
NM_080687
c.T331C
c.T331C
p.Y111H
p.Y111H
22.9-Marques2022 ET
UPF2     Marques2022:50chr10:
12021166-12021166
TCsplicingsplicing24.0-Marques2022 ET
UPF2     Marques2022:49chr10:
11998335-11998335
AGexonicnonsynonymous SNVNM_015542
NM_080599
c.T2558C
c.T2558C
p.I853T
p.I853T
21.88.246E-6Marques2022 ET
UPF2     Marques2022:52chr10:
12071235-12071235
ATexonicnonsynonymous SNVNM_015542
NM_080599
c.T654A
c.T654A
p.D218E
p.D218E
18.149.0E-4Marques2022 ET
UPF2     Marques2022:51chr10:
12071235-12071235
ATexonicnonsynonymous SNVNM_015542
NM_080599
c.T654A
c.T654A
p.D218E
p.D218E
18.149.0E-4Marques2022 ET
UPF3A     Marques2022:62chr13:
115067205-115067205
GCsplicingsplicing10.15-Marques2022 ET
UPF3A     Marques2022:61chr13:
115057122-115057122
AGexonicnonsynonymous SNVNM_080687
NM_023011
c.A602G
c.A701G
p.E201G
p.E234G
23.6-Marques2022 ET
DIS3L     Marques2022:64chr15:
66607419-66607419
GAexonicnonsynonymous SNVNM_001143688
NM_133375
c.G860A
c.G611A
p.R287H
p.R204H
36.0-Marques2022 ET
UPF3A     Marques2022:63chr13:
115067318-115067318
GAexonicnonsynonymous SNVNM_080687
NM_023011
c.G1021A
c.G1120A
p.E341K
p.E374K
14.711.775E-5Marques2022 ET
UPF3A     Marques2022:58chr13:
115051869-115051869
GAexonicnonsynonymous SNVNM_023011c.G514Ap.E172K34.01.0E-4Marques2022 ET
UPF3A     Marques2022:57chr13:
115048398-115048398
AGexonicnonsynonymous SNVNM_023011
NM_080687
c.A401G
c.A401G
p.Y134C
p.Y134C
15.713.0E-4Marques2022 ET
UPF3A     Marques2022:60chr13:
115057018-115057018
AGexonicnonsynonymous SNVNM_080687
NM_023011
c.A587G
c.A686G
p.Q196R
p.Q229R
25.5-Marques2022 ET
UPF3A     Marques2022:59chr13:
115052084-115052084
CTexonicnonsynonymous SNVNM_080687
NM_023011
c.C512T
c.C611T
p.A171V
p.A204V
19.860.0015Marques2022 ET
DIS3L     Marques2022:70chr15:
66615886-66615886
AGexonicnonsynonymous SNVNM_001143688
NM_133375
c.A1630G
c.A1381G
p.S544G
p.S461G
17.61-Marques2022 ET
DIS3L     Marques2022:69chr15:
66615859-66615859
CTexonicnonsynonymous SNVNM_001143688
NM_133375
c.C1603T
c.C1354T
p.R535C
p.R452C
18.59.06E-5Marques2022 ET
DIS3L     Marques2022:72chr15:
66618395-66618395
CGexonicnonsynonymous SNVNM_001143688
NM_133375
c.C1894G
c.C1645G
p.L632V
p.L549V
15.39-Marques2022 ET
DIS3L     Marques2022:71chr15:
66618278-66618278
GCexonicnonsynonymous SNVNM_001143688
NM_133375
c.G1777C
c.G1528C
p.A593P
p.A510P
28.8-Marques2022 ET
DIS3L     Marques2022:66chr15:
66612931-66612931
TGexonicnonsynonymous SNVNM_001143688
NM_133375
c.T1187G
c.T938G
p.I396S
p.I313S
27.3-Marques2022 ET
DIS3L     Marques2022:65chr15:
66612927-66612927
CTexonicnonsynonymous SNVNM_001143688
NM_133375
c.C1183T
c.C934T
p.R395C
p.R312C
26.11.0E-4Marques2022 ET
DIS3L     Marques2022:68chr15:
66615092-66615092
GAexonicnonsynonymous SNVNM_001143688
NM_133375
c.G1394A
c.G1145A
p.R465H
p.R382H
19.062.471E-5Marques2022 ET
DIS3L     Marques2022:67chr15:
66612933-66612933
GAexonicnonsynonymous SNVNM_001143688
NM_133375
c.G1189A
c.G940A
p.D397N
p.D314N
35.0-Marques2022 ET
GSPT1     Marques2022:78chr16:
11970019-11970019
TCexonicnonsynonymous SNVNM_001130006
NM_001130007
NM_002094
c.A1613G
c.A1202G
c.A1616G
p.E538G
p.E401G
p.E539G
23.8-Marques2022 ET
GSPT1     Marques2022:77chr16:
11969662-11969662
AGexonicnonsynonymous SNVNM_001130006
NM_001130007
NM_002094
c.T1814C
c.T1403C
c.T1817C
p.F605S
p.F468S
p.F606S
22.7-Marques2022 ET
GSPT1     Marques2022:80chr16:
11980731-11980731
TCexonicnonsynonymous SNVNM_001130006
NM_001130007
NM_002094
c.A1012G
c.A601G
c.A1015G
p.R338G
p.R201G
p.R339G
19.63-Marques2022 ET
GSPT1     Marques2022:79chr16:
11976936-11976936
ATexonicnonsynonymous SNVNM_001130006
NM_001130007
NM_002094
c.T1361A
c.T950A
c.T1364A
p.V454D
p.V317D
p.V455D
25.1-Marques2022 ET
DIS3L     Marques2022:74chr15:
66621325-66621325
CTexonicnonsynonymous SNVNM_001143688
NM_133375
c.C2219T
c.C1970T
p.A740V
p.A657V
31.08.263E-6Marques2022 ET
DIS3L     Marques2022:73chr15:
66621325-66621325
CTexonicnonsynonymous SNVNM_001143688
NM_133375
c.C2219T
c.C1970T
p.A740V
p.A657V
31.08.263E-6Marques2022 ET
DIS3L     Marques2022:76chr15:
66621382-66621382
GAexonicnonsynonymous SNVNM_001143688
NM_133375
c.G2276A
c.G2027A
p.R759H
p.R676H
26.60.0061Marques2022 ET
DIS3L     Marques2022:75chr15:
66621382-66621382
GAexonicnonsynonymous SNVNM_001143688
NM_133375
c.G2276A
c.G2027A
p.R759H
p.R676H
26.60.0061Marques2022 ET
PARN     Marques2022:86chr16:
14723475-14723475
CTexonicnonsynonymous SNVNM_001242992
NM_002582
c.G76A
c.G76A
p.A26T
p.A26T
24.91.658E-5Marques2022 ET
PARN     Marques2022:85chr16:
14704500-14704500
CTsplicingsplicing20.8-Marques2022 ET
SMG1     Marques2022:88chr16:
18840681-18840681
CTexonicnonsynonymous SNVNM_015092c.G9530Ap.R3177Q25.11.658E-5Marques2022 ET
SMG1     Marques2022:87chr16:
18827703-18827703
AGexonicnonsynonymous SNVNM_015092c.T10223Cp.V3408A22.5-Marques2022 ET
PARN     Marques2022:82chr16:
14576552-14576552
CGexonicnonsynonymous SNVNM_001242992
NM_001134477
NM_002582
c.G1475C
c.G1430C
c.G1613C
p.R492P
p.R477P
p.R538P
19.548.292E-5Marques2022 ET
PARN     Marques2022:81chr16:
14576541-14576541
GAexonicstopgainNM_001242992
NM_001134477
NM_002582
c.C1486T
c.C1441T
c.C1624T
p.Q496X
p.Q481X
p.Q542X
21.6-Marques2022 ET
PARN     Marques2022:84chr16:
14700381-14700381
TCexonicnonsynonymous SNVNM_001242992
NM_001134477
NM_002582
c.A524G
c.A479G
c.A662G
p.Y175C
p.Y160C
p.Y221C
17.31.959E-5Marques2022 ET
PARN     Marques2022:83chr16:
14676079-14676079
TCexonicnonsynonymous SNVNM_001242992
NM_001134477
NM_002582
c.A1013G
c.A968G
c.A1151G
p.Y338C
p.Y323C
p.Y384C
18.632.484E-5Marques2022 ET
SMG1     Marques2022:94chr16:
18847451-18847451
CGexonicnonsynonymous SNVNM_015092c.G7861Cp.G2621R18.861.151E-5Marques2022 ET
SMG1     Marques2022:93chr16:
18846365-18846365
GAexonicnonsynonymous SNVNM_015092c.C8179Tp.R2727C19.63-Marques2022 ET
SMG1     Marques2022:96chr16:
18851024-18851024
GAexonicnonsynonymous SNVNM_015092c.C6941Tp.T2314M20.71.658E-5Marques2022 ET
SMG1     Marques2022:95chr16:
18849539-18849539
GAexonicnonsynonymous SNVNM_015092c.C7210Tp.R2404W17.953.838E-5Marques2022 ET
SMG1     Marques2022:90chr16:
18841262-18841262
GTexonicnonsynonymous SNVNM_015092c.C9119Ap.S3040Y18.33-Marques2022 ET
SMG1     Marques2022:89chr16:
18840721-18840721
TCexonicnonsynonymous SNVNM_015092c.A9490Gp.S3164G14.88.283E-6Marques2022 ET
SMG1     Marques2022:92chr16:
18845710-18845710
AGexonicnonsynonymous SNVNM_015092c.T8381Cp.V2794A17.411.715E-5Marques2022 ET
SMG1     Marques2022:91chr16:
18844365-18844365
CAexonicnonsynonymous SNVNM_015092c.G8689Tp.G2897C18.6-Marques2022 ET
SMG6     Marques2022:102chr17:
1972183-1972183
CTexonicnonsynonymous SNVNM_001282326
NM_001256828
NM_001256827
NM_017575
c.G457A
c.G1000A
c.G1000A
c.G3724A
p.E153K
p.E334K
p.E334K
p.E1242K
30.00.0019Marques2022 ET
SMG1     Marques2022:101chr16:
18896984-18896984
ACexonicnonsynonymous SNVNM_015092c.T827Gp.V276G18.9-Marques2022 ET
SMG6     Marques2022:104chr17:
2139929-2139929
ATexonicnonsynonymous SNVNM_001256828
NM_001256827
NM_017575
c.T2A
c.T2A
c.T2726A
p.M1K
p.M1K
p.M909K
26.7-Marques2022 ET
SMG6     Marques2022:103chr17:
1972183-1972183
CTexonicnonsynonymous SNVNM_001282326
NM_001256828
NM_001256827
NM_017575
c.G457A
c.G1000A
c.G1000A
c.G3724A
p.E153K
p.E334K
p.E334K
p.E1242K
30.00.0019Marques2022 ET
SMG1     Marques2022:98chr16:
18871010-18871010
AGexonicnonsynonymous SNVNM_015092c.T3821Cp.L1274P18.478.409E-6Marques2022 ET
SMG1     Marques2022:97chr16:
18869558-18869558
CTexonicnonsynonymous SNVNM_015092c.G4168Ap.V1390M21.73.0E-4Marques2022 ET
SMG1     Marques2022:100chr16:
18882017-18882017
GAexonicnonsynonymous SNVNM_015092c.C2407Tp.R803C21.07.0E-4Marques2022 ET
SMG1     Marques2022:99chr16:
18871027-18871027
TCsplicingsplicing16.47-Marques2022 ET
SMG6     Marques2022:110chr17:
2203223-2203223
TCexonicnonsynonymous SNVNM_017575c.A824Gp.D275G14.960.0012Marques2022 ET
SMG6     Marques2022:109chr17:
2203223-2203223
TCexonicnonsynonymous SNVNM_017575c.A824Gp.D275G14.960.0012Marques2022 ET
SMG6     Marques2022:112chr17:
2203356-2203356
CGexonicnonsynonymous SNVNM_017575c.G691Cp.D231H10.910.0064Marques2022 ET
SMG6     Marques2022:111chr17:
2203320-2203320
GAexonicnonsynonymous SNVNM_017575c.C727Tp.R243C17.382.473E-5Marques2022 ET
SMG6     Marques2022:106chr17:
2196223-2196223
CTexonicnonsynonymous SNVNM_017575c.G2200Ap.D734N34.08.237E-6Marques2022 ET
SMG6     Marques2022:105chr17:
2186072-2186072
GAexonicnonsynonymous SNVNM_017575c.C2530Tp.R844W14.361.647E-5Marques2022 ET
SMG6     Marques2022:108chr17:
2202443-2202443
GAexonicnonsynonymous SNVNM_017575c.C1604Tp.T535M8.084.141E-5Marques2022 ET
SMG6     Marques2022:107chr17:
2202438-2202438
CAexonicnonsynonymous SNVNM_017575c.G1609Tp.G537C13.781.0E-4Marques2022 ET
CASC3     Marques2022:118chr17:
38320381-38320381
CTexonicnonsynonymous SNVNM_007359c.C1433Tp.P478L11.549.0E-4Marques2022 ET
CASC3     Marques2022:117chr17:
38320381-38320381
CTexonicnonsynonymous SNVNM_007359c.C1433Tp.P478L11.549.0E-4Marques2022 ET
CASC3     Marques2022:120chr17:
38324554-38324554
CTexonicnonsynonymous SNVNM_007359c.C1849Tp.L617F31.00.0061Marques2022 ET
CASC3     Marques2022:119chr17:
38324454-38324454
AGsplicingsplicing22.0-Marques2022 ET
CASC3     Marques2022:114chr17:
38296913-38296913
GTexonicnonsynonymous SNVNM_007359c.G112Tp.G38C18.61-Marques2022 ET
SMG6     Marques2022:113chr17:
2203868-2203868
CGexonicnonsynonymous SNVNM_017575c.G179Cp.R60T18.428.247E-6Marques2022 ET
CASC3     Marques2022:116chr17:
38318281-38318281
ACexonicnonsynonymous SNVNM_007359c.A483Cp.K161N12.69-Marques2022 ET
CASC3     Marques2022:115chr17:
38318151-38318151
GAexonicnonsynonymous SNVNM_007359c.G443Ap.S148N14.52-Marques2022 ET
SMG8     Marques2022:126chr17:
57287453-57287453
CTexonicnonsynonymous SNVNM_018149c.C41Tp.A14V8.93.0E-4Marques2022 ET
SMG8     Marques2022:125chr17:
57287425-57287425
GAexonicnonsynonymous SNVNM_018149c.G13Ap.V5M13.220.001Marques2022 ET
SMG8     Marques2022:128chr17:
57288043-57288043
CTexonicnonsynonymous SNVNM_018149c.C631Tp.L211F18.37-Marques2022 ET
SMG8     Marques2022:127chr17:
57287970-57287970
CGexonicnonsynonymous SNVNM_018149c.C558Gp.H186Q16.652.615E-5Marques2022 ET
SRSF1     Marques2022:122chr17:
56083297-56083297
ACexonicnonsynonymous SNVNM_001078166
NM_006924
c.T417G
c.T417G
p.D139E
p.D139E
13.02-Marques2022 ET
CASC3     Marques2022:121chr17:
38324554-38324554
CTexonicnonsynonymous SNVNM_007359c.C1849Tp.L617F31.00.0061Marques2022 ET
SMG8     Marques2022:124chr17:
57287425-57287425
GAexonicnonsynonymous SNVNM_018149c.G13Ap.V5M13.220.001Marques2022 ET
SRSF1     Marques2022:123chr17:
56084441-56084441
CTexonicnonsynonymous SNVNM_001078166
NM_006924
c.G58A
c.G58A
p.V20M
p.V20M
16.71-Marques2022 ET
SMG8     Marques2022:134chr17:
57288997-57288997
GTexonicnonsynonymous SNVNM_018149c.G1585Tp.A529S18.090.0017Marques2022 ET
SMG8     Marques2022:133chr17:
57288766-57288766
GCexonicnonsynonymous SNVNM_018149c.G1354Cp.A452P20.24.122E-5Marques2022 ET
SMG8     Marques2022:136chr17:
57289151-57289151
TCexonicnonsynonymous SNVNM_018149c.T1739Cp.F580S17.8-Marques2022 ET
SMG8     Marques2022:135chr17:
57288997-57288997
GTexonicnonsynonymous SNVNM_018149c.G1585Tp.A529S18.090.0017Marques2022 ET
SMG8     Marques2022:130chr17:
57288044-57288044
TCexonicnonsynonymous SNVNM_018149c.T632Cp.L211P18.13.306E-5Marques2022 ET
SMG8     Marques2022:129chr17:
57288044-57288044
TCexonicnonsynonymous SNVNM_018149c.T632Cp.L211P18.13.306E-5Marques2022 ET
SMG8     Marques2022:132chr17:
57288766-57288766
GCexonicnonsynonymous SNVNM_018149c.G1354Cp.A452P20.24.122E-5Marques2022 ET
SMG8     Marques2022:131chr17:
57288401-57288401
CTexonicnonsynonymous SNVNM_018149c.C989Tp.P330L21.8-Marques2022 ET
UPF1     Marques2022:142chr19:
18966038-18966038
CTexonicnonsynonymous SNVNM_001297549
NM_002911
c.C1564T
c.C1531T
p.R522W
p.R511W
21.38.452E-6Marques2022 ET
UPF1     Marques2022:141chr19:
18960931-18960931
TAexonicnonsynonymous SNVNM_001297549
NM_002911
c.T509A
c.T509A
p.L170Q
p.L170Q
24.5-Marques2022 ET
UPF1     Marques2022:144chr19:
18968277-18968277
CAexonicnonsynonymous SNVNM_001297549
NM_002911
c.C2150A
c.C2117A
p.P717H
p.P706H
26.0-Marques2022 ET
UPF1     Marques2022:143chr19:
18968162-18968162
CAexonicnonsynonymous SNVNM_001297549
NM_002911
c.C2035A
c.C2002A
p.P679T
p.P668T
24.1-Marques2022 ET
EIF4A3     Marques2022:138chr17:
78109932-78109932
TCsplicingsplicing8.876-Marques2022 ET
SMG8     Marques2022:137chr17:
57290456-57290456
GAexonicnonsynonymous SNVNM_018149c.G2272Ap.G758S27.91.648E-5Marques2022 ET
EIF4A3     Marques2022:140chr17:
78118041-78118041
AGexonicnonsynonymous SNVNM_014740c.T172Cp.F58L34.0-Marques2022 ET
EIF4A3     Marques2022:139chr17:
78112071-78112071
AGexonicnonsynonymous SNVNM_014740c.T737Cp.L246S17.48-Marques2022 ET
DHX34     Marques2022:150chr19:
47856844-47856844
ACexonicnonsynonymous SNVNM_014681c.A557Cp.D186A23.78.492E-6Marques2022 ET
SMG9     Marques2022:149chr19:
44254857-44254859
CATCexonicframeshift deletionNM_019108c.35_36delp.Y12fs--Marques2022 ET
DHX34     Marques2022:152chr19:
47858455-47858455
GAexonicnonsynonymous SNVNM_014681c.G865Ap.D289N27.81.0E-4Marques2022 ET
DHX34     Marques2022:151chr19:
47858447-47858447
TCexonicnonsynonymous SNVNM_014681c.T857Cp.L286P20.84.944E-5Marques2022 ET
SMG9     Marques2022:146chr19:
44251821-44251821
GAexonicnonsynonymous SNVNM_019108c.C454Tp.R152W19.789.032E-6Marques2022 ET
SMG9     Marques2022:145chr19:
44242324-44242324
GAexonicnonsynonymous SNVNM_019108c.C859Tp.R287C22.5-Marques2022 ET
SMG9     Marques2022:148chr19:
44254848-44254848
GAexonicnonsynonymous SNVNM_019108c.C46Tp.R16W22.48.314E-6Marques2022 ET
SMG9     Marques2022:147chr19:
44251836-44251836
ATexonicnonsynonymous SNVNM_019108c.T439Ap.Y147N23.3-Marques2022 ET
DHX34     Marques2022:158chr19:
47876133-47876133
CTexonicstopgainNM_014681c.C1915Tp.Q639X42.0-Marques2022 ET
DHX34     Marques2022:157chr19:
47865789-47865789
TCexonicnonsynonymous SNVNM_014681c.T1432Cp.F478L18.81-Marques2022 ET
DHX34     Marques2022:160chr19:
47876902-47876902
GAexonicnonsynonymous SNVNM_014681c.G2009Ap.R670Q20.51.0E-4Marques2022 ET
DHX34     Marques2022:159chr19:
47876898-47876898
CTexonicnonsynonymous SNVNM_014681c.C2005Tp.R669C23.71.0E-4Marques2022 ET
DHX34     Marques2022:154chr19:
47858494-47858494
CTexonicnonsynonymous SNVNM_014681c.C904Tp.R302W21.32.0E-4Marques2022 ET
DHX34     Marques2022:153chr19:
47858494-47858494
CTexonicnonsynonymous SNVNM_014681c.C904Tp.R302W21.32.0E-4Marques2022 ET
DHX34     Marques2022:156chr19:
47865787-47865787
AGexonicnonsynonymous SNVNM_014681c.A1430Gp.E477G32.0-Marques2022 ET
DHX34     Marques2022:155chr19:
47865756-47865756
GTexonicnonsynonymous SNVNM_014681c.G1399Tp.D467Y27.70.0018Marques2022 ET
DHX34     Marques2022:166chr19:
47884091-47884091
CTexonicnonsynonymous SNVNM_014681c.C3001Tp.R1001W12.756.602E-5Marques2022 ET
DHX34     Marques2022:165chr19:
47883030-47883030
GTexonicnonsynonymous SNVNM_014681c.G2770Tp.G924C19.144.0E-4Marques2022 ET
RUVBL2     Marques2022:168chr19:
49514506-49514506
CTexonicnonsynonymous SNVNM_006666c.C940Tp.R314W34.03.0E-4Marques2022 ET
RUVBL2     Marques2022:167chr19:
49513138-49513138
GAexonicnonsynonymous SNVNM_006666c.G568Ap.G190R24.5-Marques2022 ET
DHX34     Marques2022:162chr19:
47879329-47879329
AGexonicnonsynonymous SNVNM_014681c.A2456Gp.N819S18.188.812E-5Marques2022 ET
DHX34     Marques2022:161chr19:
47879292-47879292
GAexonicnonsynonymous SNVNM_014681c.G2419Ap.G807S35.00.0032Marques2022 ET
DHX34     Marques2022:164chr19:
47880464-47880464
GAsplicingsplicing21.1-Marques2022 ET
DHX34     Marques2022:163chr19:
47879766-47879766
GAexonicnonsynonymous SNVNM_014681c.G2548Ap.E850K19.940.0023Marques2022 ET
NBAS     Marques2022:174chr2:
15415865-15415865
TAexonicnonsynonymous SNVNM_015909c.A5467Tp.I1823F19.555.0E-4Marques2022 ET
NBAS     Marques2022:173chr2:
15415627-15415627
GAexonicnonsynonymous SNVNM_015909c.C5705Tp.S1902F24.5-Marques2022 ET
NBAS     Marques2022:176chr2:
15427225-15427225
GAexonicnonsynonymous SNVNM_015909c.C5110Tp.H1704Y17.242.0E-4Marques2022 ET
NBAS     Marques2022:175chr2:
15415865-15415865
TAexonicnonsynonymous SNVNM_015909c.A5467Tp.I1823F19.555.0E-4Marques2022 ET
PPP2R1A     Marques2022:170chr19:
52725358-52725358
TCexonicnonsynonymous SNVNM_014225c.T1525Cp.S509P21.0-Marques2022 ET
PPP2R1A     Marques2022:169chr19:
52716217-52716217
CTexonicnonsynonymous SNVNM_014225c.C661Tp.R221W27.2-Marques2022 ET
NBAS     Marques2022:172chr2:
15374831-15374831
CTexonicnonsynonymous SNVNM_015909c.G5984Ap.R1995Q32.06.0E-4Marques2022 ET
NBAS     Marques2022:171chr2:
15359049-15359049
GTexonicnonsynonymous SNVNM_015909c.C6280Ap.P2094T26.68.343E-6Marques2022 ET
NBAS     Marques2022:182chr2:
15449305-15449305
GAexonicnonsynonymous SNVNM_015909c.C4649Tp.A1550V28.72.0E-4Marques2022 ET
NBAS     Marques2022:181chr2:
15448339-15448339
CTsplicingsplicing16.54-Marques2022 ET
NBAS     Marques2022:184chr2:
15467889-15467889
ACexonicnonsynonymous SNVNM_015909c.T4567Gp.F1523V21.7-Marques2022 ET
NBAS     Marques2022:183chr2:
15449305-15449305
GAexonicnonsynonymous SNVNM_015909c.C4649Tp.A1550V28.72.0E-4Marques2022 ET
NBAS     Marques2022:178chr2:
15427256-15427256
GCexonicstopgainNM_015909c.C5079Gp.Y1693X41.0-Marques2022 ET
NBAS     Marques2022:177chr2:
15427225-15427225
GAexonicnonsynonymous SNVNM_015909c.C5110Tp.H1704Y17.242.0E-4Marques2022 ET
NBAS     Marques2022:180chr2:
15432775-15432775
CTexonicnonsynonymous SNVNM_015909c.G4913Ap.R1638H18.160.003Marques2022 ET
NBAS     Marques2022:179chr2:
15432775-15432775
CTexonicnonsynonymous SNVNM_015909c.G4913Ap.R1638H18.160.003Marques2022 ET
NBAS     Marques2022:190chr2:
15542374-15542374
CGexonicnonsynonymous SNVNM_015909c.G2989Cp.E997Q16.893.299E-5Marques2022 ET
NBAS     Marques2022:189chr2:
15534391-15534391
GAexonicnonsynonymous SNVNM_015909c.C3217Tp.R1073C16.180.0042Marques2022 ET
NBAS     Marques2022:192chr2:
15608634-15608634
CTexonicstopgainNM_015909c.G1749Ap.W583X40.08.256E-6Marques2022 ET
NBAS     Marques2022:191chr2:
15601387-15601387
ACexonicnonsynonymous SNVNM_015909c.T2277Gp.I759M15.9-Marques2022 ET
NBAS     Marques2022:186chr2:
15493821-15493821
ATexonicnonsynonymous SNVNM_015909c.T3945Ap.S1315R15.068.26E-6Marques2022 ET
NBAS     Marques2022:185chr2:
15470849-15470849
ACexonicnonsynonymous SNVNM_015909c.T4220Gp.L1407W16.88-Marques2022 ET
NBAS     Marques2022:188chr2:
15534391-15534391
GAexonicnonsynonymous SNVNM_015909c.C3217Tp.R1073C16.180.0042Marques2022 ET
NBAS     Marques2022:187chr2:
15496498-15496498
AGexonicnonsynonymous SNVNM_015909c.T3860Cp.L1287S13.752.474E-5Marques2022 ET
NBAS     Marques2022:198chr2:
15651461-15651461
CAexonicnonsynonymous SNVNM_015909c.G760Tp.G254C13.51-Marques2022 ET
NBAS     Marques2022:197chr2:
15651412-15651412
CTexonicnonsynonymous SNVNM_015909c.G809Ap.G270D20.42.478E-5Marques2022 ET
NBAS     Marques2022:200chr2:
15676649-15676649
GCexonicnonsynonymous SNVNM_015909c.C540Gp.S180R9.5751.0E-4Marques2022 ET
NBAS     Marques2022:199chr2:
15676570-15676570
GAexonicstopgainNM_015909c.C619Tp.R207X37.0-Marques2022 ET
NBAS     Marques2022:194chr2:
15615936-15615936
AGexonicnonsynonymous SNVNM_015909c.T1216Cp.C406R11.924.949E-5Marques2022 ET
NBAS     Marques2022:193chr2:
15614282-15614282
GAexonicnonsynonymous SNVNM_015909c.C1508Tp.A503V23.9-Marques2022 ET
NBAS     Marques2022:196chr2:
15618404-15618404
CGexonicnonsynonymous SNVNM_015909c.G1093Cp.D365H17.350.0088Marques2022 ET
NBAS     Marques2022:195chr2:
15618404-15618404
CGexonicnonsynonymous SNVNM_015909c.G1093Cp.D365H17.350.0088Marques2022 ET
DIS3L2     Marques2022:206chr2:
233028237-233028237
AGexonicnonsynonymous SNVNM_001257281
NM_152383
c.A1019G
c.A1019G
p.Y340C
p.Y340C
21.11.0E-4Marques2022 ET
DIS3L2     Marques2022:205chr2:
233001277-233001279
CCTCexonicframeshift deletionNM_001257281
NM_152383
c.799_800del
c.799_800del
p.L267fs
p.L267fs
--Marques2022 ET
DIS3L2     Marques2022:208chr2:
233127938-233127938
CGexonicnonsynonymous SNVNM_001257281
NM_152383
c.C1447G
c.C1447G
p.R483G
p.R483G
20.67.0E-4Marques2022 ET
DIS3L2     Marques2022:207chr2:
233127938-233127938
CGexonicnonsynonymous SNVNM_001257281
NM_152383
c.C1447G
c.C1447G
p.R483G
p.R483G
20.67.0E-4Marques2022 ET
DIS3L2     Marques2022:202chr2:
232880381-232880381
GCexonicnonsynonymous SNVNM_001257281
NM_001257282
NM_152383
c.G210C
c.G210C
c.G210C
p.Q70H
p.Q70H
p.Q70H
20.2-Marques2022 ET
NBAS     Marques2022:201chr2:
15696945-15696945
TCsplicingsplicing18.171.652E-5Marques2022 ET
DIS3L2     Marques2022:204chr2:
232894729-232894729
GCexonicnonsynonymous SNVNM_001257281
NM_001257282
NM_152383
c.G305C
c.G305C
c.G305C
p.R102P
p.R102P
p.R102P
27.25.8E-5Marques2022 ET
DIS3L2     Marques2022:203chr2:
232889039-232889039
CTexonicnonsynonymous SNVNM_001257281
NM_001257282
NM_152383
c.C263T
c.C263T
c.C263T
p.P88L
p.P88L
p.P88L
21.69.0E-4Marques2022 ET
DIS3L2     Marques2022:214chr2:
233194645-233194645
TCexonicnonsynonymous SNVNM_152383c.T1862Cp.L621P21.98.372E-6Marques2022 ET
DIS3L2     Marques2022:213chr2:
233194618-233194618
CTexonicnonsynonymous SNVNM_152383c.C1835Tp.P612L18.351.683E-5Marques2022 ET
DIS3L2     Marques2022:216chr2:
233201302-233201302
GTexonicstopgainNM_152383c.G2620Tp.E874X34.03.594E-5Marques2022 ET
DIS3L2     Marques2022:215chr2:
233198613-233198613
ATexonicnonsynonymous SNVNM_152383c.A2074Tp.N692Y20.1-Marques2022 ET
DIS3L2     Marques2022:210chr2:
233164812-233164812
GTexonicnonsynonymous SNVNM_152383c.G1722Tp.E574D18.181.0E-4Marques2022 ET
DIS3L2     Marques2022:209chr2:
233127939-233127939
GAexonicnonsynonymous SNVNM_001257281
NM_152383
c.G1448A
c.G1448A
p.R483Q
p.R483Q
24.00.0113Marques2022 ET
DIS3L2     Marques2022:212chr2:
233194609-233194609
GAexonicnonsynonymous SNVNM_152383c.G1826Ap.R609Q32.02.546E-5Marques2022 ET
DIS3L2     Marques2022:211chr2:
233194608-233194608
CTexonicnonsynonymous SNVNM_152383c.C1825Tp.R609W25.51.0E-4Marques2022 ET
XRN1     Marques2022:222chr3:
142051814-142051814
CTexonicnonsynonymous SNVNM_001282857
NM_019001
c.G4057A
c.G4057A
p.A1353T
p.A1353T
27.73.304E-5Marques2022 ET
XRN1     Marques2022:221chr3:
142031589-142031589
GCexonicnonsynonymous SNVNM_001282857
NM_019001
c.C4633G
c.C4669G
p.P1545A
p.P1557A
18.372.0E-4Marques2022 ET
XRN1     Marques2022:224chr3:
142084168-142084168
GTexonicnonsynonymous SNVNM_001282857
NM_019001
c.C3245A
c.C3245A
p.P1082H
p.P1082H
17.815.79E-5Marques2022 ET
XRN1     Marques2022:223chr3:
142075938-142075938
CTexonicnonsynonymous SNVNM_001282857
NM_019001
c.G3488A
c.G3488A
p.R1163Q
p.R1163Q
35.0-Marques2022 ET
SEC13     Marques2022:218chr3:
10357089-10357089
CTexonicnonsynonymous SNVNM_001136232
NM_001278946
NM_183352
NM_001136026
NM_030673
c.G38A
c.G80A
c.G80A
c.G218A
c.G89A
p.R13H
p.R27H
p.R27H
p.R73H
p.R30H
35.09.141E-5Marques2022 ET
SEC13     Marques2022:217chr3:
10354325-10354325
AGexonicnonsynonymous SNVNM_001136232
NM_001278946
NM_183352
NM_001136026
NM_030673
c.T212C
c.T254C
c.T254C
c.T392C
c.T263C
p.I71T
p.I85T
p.I85T
p.I131T
p.I88T
25.2-Marques2022 ET
RUVBL1     Marques2022:220chr3:
127831806-127831806
TCexonicnonsynonymous SNVNM_003707c.A286Gp.M96V18.274.943E-5Marques2022 ET
RUVBL1     Marques2022:219chr3:
127823653-127823653
AGexonicnonsynonymous SNVNM_003707c.T476Cp.I159T24.78.258E-6Marques2022 ET
EIF4G1     Marques2022:230chr3:
184035178-184035178
CTexonicnonsynonymous SNVNM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946
c.C217T
c.C238T
c.C97T
c.C217T
c.C238T
p.R73C
p.R80C
p.R33C
p.R73C
p.R80C
25.18.249E-6Marques2022 ET
XRN1     Marques2022:229chr3:
142142460-142142461
CACexonicframeshift deletionNM_001282857
NM_001282859
NM_019001
c.651delT
c.651delT
c.651delT
p.H217fs
p.H217fs
p.H217fs
--Marques2022 ET
EIF4G1     Marques2022:232chr3:
184044707-184044707
CTexonicnonsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946
c.C2779T
c.C2872T
c.C3103T
c.C3367T
c.C3385T
c.C3244T
c.C3364T
c.C3385T
p.R927C
p.R958C
p.R1035C
p.R1123C
p.R1129C
p.R1082C
p.R1122C
p.R1129C
25.8-Marques2022 ET
EIF4G1     Marques2022:231chr3:
184039373-184039373
CAexonicnonsynonymous SNVNM_004953
NM_198242
NM_198244
NM_182917
NM_001194947
NM_001291157
NM_198241
NM_001194946
c.C413A
c.C509A
c.C740A
c.C1001A
c.C1022A
c.C881A
c.C1001A
c.C1022A
p.P138Q
p.P170Q