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Results for "Antaki2022"

Variant Events: 1040

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
DHX9     SSC05600chr1:
182852665-182852665		GAexonicnonsynonymous SNVNM_001357c.G3155Ap.R1052Q33.0-Antaki2022 GE
MEMO1   SSC08980chr2:
32168370-32168370		CTsplicingsplicing15.93-Antaki2022 GE
NRXN1     SSC04927chr2:
50724605-50724605		ATexonicstopgainNM_004801
NM_001135659		c.T2745A
c.T2865A		p.Y915X
p.Y955X		49.0-Antaki2022 GE
FBXO11     SSC02723chr2:
48040938-48040938		TAexonicnonsynonymous SNVNM_001190274
NM_025133		c.A2075T
c.A1823T		p.Y692F
p.Y608F		25.2-Antaki2022 GE
SCN2A     SSC03177chr2:
166201379-166201379		CAexonicstopgainNM_001040143
NM_001040142
NM_021007		c.C2877A
c.C2877A
c.C2877A		p.C959X
p.C959X
p.C959X		42.0-Antaki2022 GE
SCN2A     SSC00344chr2:
166210819-166210819		GTexonicstopgainNM_001040143
NM_001040142
NM_021007		c.G3037T
c.G3037T
c.G3037T		p.G1013X
p.G1013X
p.G1013X		40.0-Antaki2022 GE
LRP2     SSC06968chr2:
170042308-170042308		GAexonicstopgainNM_004525c.C9550Tp.R3184X53.0-Antaki2022 GE
NCKAP1     SSC06366chr2:
183791570-183791570		CAexonicstopgainNM_013436
NM_205842		c.G3244T
c.G3262T		p.E1082X
p.E1088X		48.0-Antaki2022 GE
SF3B1     SSC10812chr2:
198274508-198274508		GTexonicnonsynonymous SNVNM_012433c.C890Ap.P297H28.1-Antaki2022 GE
HECW2     SSC03717chr2:
197106887-197106887		GAexonicnonsynonymous SNVNM_001304840
NM_020760		c.C2503T
c.C3571T		p.R835W
p.R1191W		18.67-Antaki2022 GE
UNC80     SSC04780chr2:
210745771-210745771		CTexonicstopgainNM_032504
NM_182587		c.C4069T
c.C4054T		p.R1357X
p.R1352X		44.0-Antaki2022 GE
TRIP12     SSC06111chr2:
230701696-230701696		GAexonicstopgainNM_001284216
NM_001284215
NM_004238
NM_001284214		c.C103T
c.C1012T
c.C1012T
c.C1138T		p.R35X
p.R338X
p.R338X
p.R380X		38.0-Antaki2022 GE
CTNNB1     SSC04950chr3:
41275346-41275346		GAexonicstopgainNM_001098209
NM_001098210
NM_001904		c.G1512A
c.G1512A
c.G1512A		p.W504X
p.W504X
p.W504X		42.0-Antaki2022 GE
CACNA2D3     SSC08101chr3:
54921984-54921984		AGsplicingsplicing17.81-Antaki2022 GE
ADCY5     SSC05372chr3:
123049782-123049782		CTexonicnonsynonymous SNVNM_001199642
NM_183357		c.G550A
c.G1600A		p.A184T
p.A534T		37.0-Antaki2022 GE
AP2M1     SSC10837chr3:
183899699-183899699		GCsplicingsplicing15.38-Antaki2022 GE
KIAA0232     SSC06116chr4:
6843914-6843914		CTexonicstopgainNM_001100590
NM_014743		c.C352T
c.C352T		p.R118X
p.R118X		42.0-Antaki2022 GE
WDFY3     SSC06712chr4:
85719152-85719152		TAexonicstopgainNM_014991c.A2932Tp.R978X45.0-Antaki2022 GE
NR3C2     SSC08154chr4:
149073677-149073677		GTexonicstopgainNM_001166104
NM_000901		c.C2102A
c.C2453A		p.S701X
p.S818X		43.0-Antaki2022 GE
TRIO     SSC08153chr5:
14394220-14394220		ATexonicnonsynonymous SNVNM_007118c.A4292Tp.K1431M17.83-Antaki2022 GE
PPIP5K2     SSC05971chr5:
102486980-102486980		GCexonicnonsynonymous SNVNM_015216
NM_001276277		c.G930C
c.G930C		p.L310F
p.L310F		16.74-Antaki2022 GE
PITX1     SSC05162chr5:
134364690-134364690		GAexonicnonsynonymous SNVNM_002653c.C724Tp.L242F28.2-Antaki2022 GE
HRH2     SSC04693chr5:
175110636-175110636		CTexonicnonsynonymous SNVNM_022304
NM_001131055		c.C400T
c.C400T		p.R134W
p.R134W		17.52-Antaki2022 GE
MYB     SSC02938chr6:
135507151-135507151		GAexonicnonsynonymous SNVNM_001130172
NM_001130173
NM_001161656
NM_001161657
NM_001161658
NM_001161659
NM_001161660
NM_005375		c.G134A
c.G134A
c.G134A
c.G134A
c.G134A
c.G134A
c.G134A
c.G134A		p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q
p.R45Q		35.0-Antaki2022 GE
THSD7A     SSC06614chr7:
11487022-11487022		GAexonicstopgainNM_015204c.C2635Tp.Q879X42.0-Antaki2022 GE
GNAI1     SSC11348chr7:
79840305-79840305		AGexonicnonsynonymous SNVNM_001256414
NM_002069		c.A455G
c.A611G		p.Q152R
p.Q204R		29.7-Antaki2022 GE
TRRAP     SSC11926chr7:
98609859-98609859		CTexonicnonsynonymous SNVNM_003496
NM_001244580		c.C11374T
c.C11461T		p.R3792C
p.R3821C		33.0-Antaki2022 GE
KLHDC10     SSC07419chr7:
129767258-129767258		CTexonicstopgainNM_014997c.C946Tp.R316X37.0-Antaki2022 GE
UBE3C     SSC06297chr7:
157049644-157049644		TGexonicnonsynonymous SNVNM_014671c.T2987Gp.F996C17.4-Antaki2022 GE
RAB2A     SSC02583chr8:
61484622-61484622		CTexonicstopgainNM_001242644
NM_002865		c.C64T
c.C136T		p.R22X
p.R46X		28.2-Antaki2022 GE
RORB     SSC11871chr9:
77245254-77245254		TGexonicnonsynonymous SNVNM_006914c.T64Gp.Y22D24.6-Antaki2022 GE
RNF38     SSC04732chr9:
36375929-36375929		AGsplicingsplicing20.7-Antaki2022 GE
PHF2     SSC09846chr9:
96437988-96437988		CTexonicstopgainNM_005392c.C2749Tp.Q917X36.0-Antaki2022 GE
ABL1     SSC11872chr9:
133730284-133730284		CTexonicnonsynonymous SNVNM_005157
NM_007313		c.C350T
c.C407T		p.T117M
p.T136M		33.0-Antaki2022 GE
NOTCH1     SSC08665chr9:
139396487-139396487		CTexonicstopgainNM_017617c.G5438Ap.W1813X46.0-Antaki2022 GE
ZMYND11     SSC07968chr10:
293337-293337		GAsplicingsplicing26.9-Antaki2022 GE
PTEN     SSC09614chr10:
89692790-89692790		GAexonicnonsynonymous SNVNM_000314
NM_001304717		c.G274A
c.G793A		p.D92N
p.D265N		33.0-Antaki2022 GE
PTEN     SSC11758chr10:
89692908-89692908		CTexonicnonsynonymous SNVNM_000314
NM_001304717		c.C392T
c.C911T		p.T131I
p.T304I		27.8-Antaki2022 GE
SUFU     SSC06406chr10:
104263992-104263992		CAexonicstopgainNM_001178133
NM_016169		c.C83A
c.C83A		p.S28X
p.S28X		37.0-Antaki2022 GE
SMC3     SSC02433chr10:
112359556-112359556		CTexonicnonsynonymous SNVNM_005445c.C2413Tp.R805C21.78.245E-6Antaki2022 GE
KCNC1     SSC06417chr11:
17793530-17793530		GAexonicnonsynonymous SNVNM_001112741
NM_004976		c.G889A
c.G889A		p.G297S
p.G297S		17.681.648E-5Antaki2022 GE
KMT5B     SSC02433chr11:
67939039-67939039		CGexonicnonsynonymous SNVNM_001300909
NM_001300908
NM_016028
NM_017635
NM_001300907		c.G722C
c.G71C
c.G791C
c.G791C
c.G275C		p.W241S
p.W24S
p.W264S
p.W264S
p.W92S		26.2-Antaki2022 GE
PACS1     SSC11456chr11:
66002793-66002793		GAexonicnonsynonymous SNVNM_018026c.G2126Ap.R709Q36.08.257E-6Antaki2022 GE
DSCAML1     SSC08351chr11:
117301436-117301436		AGsplicingsplicing24.1-Antaki2022 GE
PAFAH1B2     SSC05260chr11:
117034592-117034592		CGsplicing;exonicnonsynonymous SNVNM_001309431
NM_001184746
NM_001184747
NM_002572		c.C251G
c.C395G
c.C395G
c.C395G		p.A84G
p.A132G
p.A132G
p.A132G		27.6-Antaki2022 GE
CHD4     SSC09521chr12:
6702297-6702297		AGexonicnonsynonymous SNVNM_001297553
NM_001273		c.T2591C
c.T2612C		p.I864T
p.I871T		17.78-Antaki2022 GE
ARID2     SSC05756chr12:
46230691-46230691		CTexonicnonsynonymous SNVNM_152641c.C940Tp.R314C27.1-Antaki2022 GE
CHD5     SP0058507chr1:
6184629-6184629		GTexonicnonsynonymous SNVNM_015557c.C4487Ap.S1496Y33.0-Antaki2022 GE
KCNAB2     SSC12450chr1:
6154469-6154469		GAexonicnonsynonymous SNVNM_001199863
NM_172130
NM_001199860
NM_001199861
NM_001199862
NM_003636		c.G311A
c.G470A
c.G512A
c.G512A
c.G656A
c.G512A		p.R104H
p.R157H
p.R171H
p.R171H
p.R219H
p.R171H		36.02.414E-5Antaki2022 GE
CAMTA1     SP0144774chr1:
7724435-7724435		CTexonicstopgainNM_015215c.C1828Tp.Q610X39.0-Antaki2022 GE
CHD5     SP0013622chr1:
6202265-6202265		GAexonicnonsynonymous SNVNM_015557c.C2359Tp.R787C22.1-Antaki2022 GE
PRKCZ     REACH000089chr1:
2105416-2105416		GAexonicnonsynonymous SNVNM_001033581
NM_001033582
NM_001242874
NM_002744		c.G817A
c.G817A
c.G1054A
c.G1366A		p.D273N
p.D273N
p.D352N
p.D456N		23.08.328E-6Antaki2022 GE
SKI     SP0042251chr1:
2237577-2237577		ACexonicnonsynonymous SNVNM_003036c.A1886Cp.E629A21.1-Antaki2022 GE
SKI     SP0070786chr1:
2237557-2237557		GGAexonicframeshift insertionNM_003036c.1867dupAp.E622fs--Antaki2022 GE
MTOR     SP0108725chr1:
11182049-11182049		CTexonicnonsynonymous SNVNM_004958c.G6797Ap.R2266H36.0-Antaki2022 GE
MED13L     SSC11830chr12:
116424952-116424952		CTexonicstopgainNM_015335c.G4076Ap.W1359X45.0-Antaki2022 GE
CASZ1     SP0100556chr1:
10725142-10725142		GCexonicstopgainNM_001079843
NM_017766		c.C503G
c.C503G		p.S168X
p.S168X		36.0-Antaki2022 GE
PTPN11     SSC06653chr12:
112926888-112926888		GAexonicnonsynonymous SNVNM_002834c.G1508Ap.G503E34.0-Antaki2022 GE
FBXO42     REACH000718chr1:
16578160-16578160		GAexonicstopgainNM_018994c.C1159Tp.R387X37.0-Antaki2022 GE
TNFRSF8     MT_27.3chr1:
12186272-12186272		CTexonicstopgainNM_001281430
NM_001243		c.C955T
c.C1288T		p.Q319X
p.Q430X		40.0-Antaki2022 GE
RERE     SSC04312chr1:
8421289-8421289		GAexonicstopgainNM_001042682
NM_001042681
NM_012102		c.C616T
c.C2278T
c.C2278T		p.Q206X
p.Q760X
p.Q760X		39.0-Antaki2022 GE
RERE     SP0023860chr1:
8420317-8420318		ACAexonicframeshift deletionNM_001042682
NM_001042681
NM_012102		c.1587delG
c.3249delG
c.3249delG		p.G529fs
p.G1083fs
p.G1083fs		-1.0E-4Antaki2022 GE
CASZ1     SP0086394chr1:
10699397-10699398		AGAexonicframeshift deletionNM_001079843c.4881delCp.G1627fs--Antaki2022 GE
PIK3CD     SP0083239chr1:
9778926-9778926		GAexonicnonsynonymous SNVNM_005026c.G1195Ap.E399K26.48.306E-6Antaki2022 GE
PITHD1     SP0011540chr1:
24105947-24105947		AGexonicnonsynonymous SNVNM_020362c.A218Gp.D73G28.2-Antaki2022 GE
KDM1A     SSC11980chr1:
23409718-23409718		AGexonicnonsynonymous SNVNM_015013
NM_001009999		c.A2420G
c.A2492G		p.Y807C
p.Y831C		21.3-Antaki2022 GE
AHDC1     SP0018463chr1:
27874338-27874338		TTGexonicframeshift insertionNM_001029882c.4288dupCp.Q1430fs--Antaki2022 GE
SRRM1     SP0013015chr1:
24981343-24981346		CAGACexonicframeshift deletionNM_001303448
NM_001303449
NM_005839		c.1041_1041del
c.924_924del
c.1041_1041del		p.R347fs
p.R308fs
p.R347fs		--Antaki2022 GE
CAPZB     SP0053071chr1:
19684011-19684011		GAexonicnonsynonymous SNVNM_001206540
NM_001282162
NM_004930
NM_001206541		c.C376T
c.C463T
c.C376T
c.C454T		p.H126Y
p.H155Y
p.H126Y
p.H152Y		26.4-Antaki2022 GE
UBR4     SS0013000chr1:
19528292-19528292		TGexonicnonsynonymous SNVNM_020765c.A194Cp.H65P22.4-Antaki2022 GE
KDM1A     SP0064002chr1:
23383992-23383992		CTexonicstopgainNM_015013
NM_001009999		c.C946T
c.C1006T		p.R316X
p.R336X		37.0-Antaki2022 GE
ECE1     SSC11731chr1:
21584017-21584017		CTsplicingsplicing21.8-Antaki2022 GE
AGO1     SP0117352chr1:
36372630-36372630		AGexonicnonsynonymous SNVNM_001317123
NM_012199		c.A1267G
c.A1492G		p.S423G
p.S498G		19.92-Antaki2022 GE
AGO1     SP0140103chr1:
36359746-36359746		GAexonicnonsynonymous SNVNM_001317123
NM_012199		c.G533A
c.G758A		p.R178H
p.R253H		19.83-Antaki2022 GE
GRIK3     SP0036212chr1:
37282824-37282824		CAexonicnonsynonymous SNVNM_000831c.G1928Tp.W643L33.0-Antaki2022 GE
AGO3     SSC07701chr1:
36448314-36448314		GTintronic--Antaki2022 GE
OPRD1     SP0112585chr1:
29185716-29185716		CTexonicnonsynonymous SNVNM_000911c.C478Tp.R160C25.88.253E-6Antaki2022 GE
EYA3     SP0031674chr1:
28315063-28315063		TCexonicnonsynonymous SNVNM_001282560
NM_001282561
NM_001282562
NM_001990		c.A1385G
c.A1385G
c.A1364G
c.A1523G		p.Y462C
p.Y462C
p.Y455C
p.Y508C		24.2-Antaki2022 GE
ZMYM4     SP0028485chr1:
35851789-35851789		AAGAATTTATTCAACAAACCAACTexonicframeshift insertionNM_005095c.1835_1836insGAATTTATTCAACAAACCAACTp.Q612fs--Antaki2022 GE
PUM1     SP0119749chr1:
31414948-31414948		GCexonicnonsynonymous SNVNM_001020658
NM_014676		c.C3017G
c.C3011G		p.P1006R
p.P1004R		22.6-Antaki2022 GE
PRPF38A     SP0007585chr1:
52874269-52874269		AGexonicnonsynonymous SNVNM_032864c.A319Gp.M107V17.36-Antaki2022 GE
ZFYVE9     SP0127097chr1:
52704364-52704364		TTAexonicframeshift insertionNM_004799
NM_007324		c.1276dupA
c.1276dupA		p.I425fs
p.I425fs		--Antaki2022 GE
ZRANB2     SP0140064chr1:
71542538-71542538		TCexonicnonsynonymous SNVNM_005455
NM_203350		c.A241G
c.A241G		p.R81G
p.R81G		16.26-Antaki2022 GE
LRRC7     SP0125260chr1:
70504692-70504692		CCAexonicframeshift insertionNM_020794c.3072dupAp.T1024fs--Antaki2022 GE
RLF     SP0041018chr1:
40703212-40703216		AGTTTAexonicframeshift deletionNM_012421c.2839_2842delp.V947fs--Antaki2022 GE
EPHA10     SSC06079chr1:
38227722-38227722		GAexonicnonsynonymous SNVNM_001099439
NM_173641		c.C205T
c.C205T		p.R69C
p.R69C		18.10.0019Antaki2022 GE
RNF220     SP0031834chr1:
45110670-45110670		CGexonicstopgainNM_018150c.C1227Gp.Y409X24.5-Antaki2022 GE
HIVEP3     SSC03535chr1:
42048715-42048715		CCGexonicframeshift insertionNM_001127714
NM_024503		c.1753dupC
c.1753dupC		p.R585fs
p.R585fs		--Antaki2022 GE
CSDE1     SP0091184chr1:
115268950-115268950		GAexonicstopgainNM_001242893
NM_001242892
NM_007158
NM_001007553
NM_001130523
NM_001242891		c.C1429T
c.C1522T
c.C1429T
c.C1522T
c.C1567T
c.C1660T		p.R477X
p.R508X
p.R477X
p.R508X
p.R523X
p.R554X		44.0-Antaki2022 GE
CEPT1     SP0021876chr1:
111726840-111726840		TCexonicnonsynonymous SNVNM_001007794
NM_006090		c.T1159C
c.T1159C		p.Y387H
p.Y387H		22.1-Antaki2022 GE
CSDE1     SSC08192chr1:
115280664-115280664		GAexonicstopgainNM_001242892
NM_001242893
NM_001007553
NM_007158
NM_001130523
NM_001242891		c.C229T
c.C229T
c.C229T
c.C229T
c.C367T
c.C367T		p.R77X
p.R77X
p.R77X
p.R77X
p.R123X
p.R123X		37.0-Antaki2022 GE
CSDE1     SP0133149chr1:
115273176-115273176		CCATexonicframeshift insertionNM_001242893
NM_001242892
NM_007158
NM_001007553
NM_001130523
NM_001242891		c.1050_1051insAT
c.1143_1144insAT
c.1050_1051insAT
c.1143_1144insAT
c.1188_1189insAT
c.1281_1282insAT		p.G351fs
p.G382fs
p.G351fs
p.G382fs
p.G397fs
p.G428fs		--Antaki2022 GE
DDAH1     REACH000650chr1:
85930644-85930644		CGexonicnonsynonymous SNVNM_012137c.G85Cp.A29P17.82-Antaki2022 GE
USP33     SP0068466chr1:
78181530-78181530		GAexonicstopgainNM_201624
NM_015017
NM_201626		c.C1942T
c.C2035T
c.C2011T		p.R648X
p.R679X
p.R671X		19.97-Antaki2022 GE
COL11A1     SSC00934chr1:
103574345-103574345		CTupstream--Antaki2022 GE
INTS6     SSC12226chr13:
51948834-51948834		GAexonicstopgainNM_012141
NM_001039937
NM_001306091		c.C1828T
c.C1789T
c.C1294T		p.R610X
p.R597X
p.R432X		50.0-Antaki2022 GE
DDAH1     SP0012384chr1:
85930644-85930644		CGexonicnonsynonymous SNVNM_012137c.G85Cp.A29P17.82-Antaki2022 GE
CELF3     SP0008293chr1:
151687080-151687080		GAexonicnonsynonymous SNVNM_001172648
NM_001172649
NM_001291106
NM_001291107
NM_007185		c.C77T
c.C218T
c.C218T
c.C218T
c.C218T		p.T26M
p.T73M
p.T73M
p.T73M
p.T73M		20.5-Antaki2022 GE
POGZ     SP0053415chr1:
151397434-151397436		CATCexonicframeshift deletionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.895_896del
c.1021_1022del
c.994_995del
c.1153_1154del
c.1180_1181del		p.M299fs
p.M341fs
p.M332fs
p.M385fs
p.M394fs		--Antaki2022 GE
UBAP2L     SSC11730chr1:
154227676-154227676		TTCexonicframeshift insertionNM_001127320
NM_001287815
NM_001287816
NM_014847		c.1959dupC
c.1938dupC
c.1992dupC
c.1959dupC		p.I653fs
p.I646fs
p.I664fs
p.I653fs		--Antaki2022 GE
SUPT16H     SSC02645chr14:
21828671-21828671		CTexonicnonsynonymous SNVNM_007192c.G2078Ap.R693Q36.0-Antaki2022 GE
ILF2     SSC12446chr1:
153637720-153637720		GAexonicstopgainNM_001267809
NM_004515		c.C439T
c.C553T		p.R147X
p.R185X		37.0-Antaki2022 GE
POGZ     SP0147634chr1:
151378489-151378489		GAexonicstopgainNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.C2737T
c.C2863T
c.C2836T
c.C2995T
c.C3022T		p.R913X
p.R955X
p.R946X
p.R999X
p.R1008X		41.0-Antaki2022 GE
POGZ     SSC07646chr1:
151377903-151377903		TTCGTCATCAexonicframeshift insertionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.3322_3323insTGATGACG
c.3448_3449insTGATGACG
c.3421_3422insTGATGACG
c.3580_3581insTGATGACG
c.3607_3608insTGATGACG		p.E1108fs
p.E1150fs
p.E1141fs
p.E1194fs
p.E1203fs		--Antaki2022 GE
POGZ     SP0044746chr1:
151384235-151384235		GCexonicnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.C1507G
c.C1633G
c.C1606G
c.C1765G
c.C1792G		p.R503G
p.R545G
p.R536G
p.R589G
p.R598G		20.9-Antaki2022 GE
POGZ     SP0003304chr1:
151379749-151379749		CCTexonicframeshift insertionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.2108dupA
c.2234dupA
c.2207dupA
c.2366dupA
c.2393dupA		p.K703fs
p.K745fs
p.K736fs
p.K789fs
p.K798fs		--Antaki2022 GE
ASH1L     SP0030168chr1:
155448617-155448622		CTTTTTCexonicframeshift deletionNM_018489c.4039_4043delp.K1347fs--Antaki2022 GE
ASH1L     SSC09193chr1:
155340680-155340680		CAexonicstopgainNM_018489c.G6427Tp.E2143X52.0-Antaki2022 GE
ASH1L     SP0139640chr1:
155451313-155451313		GAexonicstopgainNM_018489c.C1348Tp.Q450X39.0-Antaki2022 GE
ASH1L     SP0097307chr1:
155449093-155449093		CCAexonicstopgainNM_018489c.3567dupTp.E1190_S1191delinsX--Antaki2022 GE
ASH1L     SSC02002chr1:
155317482-155317482		CCCTTGexonicframeshift insertionNM_018489c.7767_7768insCAAGp.D2590fs--Antaki2022 GE
CHD8     SSC04312chr14:
21871373-21871373		TCsplicingsplicing19.43-Antaki2022 GE
SHE     SP0052444chr1:
154461681-154461681		GTexonicstopgainNM_001010846c.C870Ap.Y290X19.31-Antaki2022 GE
ASH1L     SP0062383chr1:
155324288-155324288		GAexonicstopgainNM_018489c.C7189Tp.R2397X51.0-Antaki2022 GE
ASH1L     SP0104732chr1:
155317647-155317647		GAexonicstopgainNM_018489c.C7603Tp.R2535X52.0-Antaki2022 GE
PBX1     SP0087684chr1:
164768976-164768976		GGAexonicframeshift insertionNM_001204961
NM_001204963
NM_002585		c.552dupA
c.552dupA
c.552dupA		p.R184fs
p.R184fs
p.R184fs		--Antaki2022 GE
ARHGAP30     SSC00392chr1:
161017762-161017762		GAexonicstopgainNM_001287602
NM_001287600
NM_001025598
NM_181720		c.C2518T
c.C2605T
c.C3049T
c.C2416T		p.R840X
p.R869X
p.R1017X
p.R806X		41.0-Antaki2022 GE
ILDR2     SP0060149chr1:
166890453-166890453		GAexonicnonsynonymous SNVNM_199351c.C1375Tp.R459C12.83-Antaki2022 GE
PBX1     SP0098826chr1:
164769104-164769104		CTexonicnonsynonymous SNVNM_001204961
NM_001204963
NM_002585		c.C679T
c.C679T
c.C679T		p.R227C
p.R227C
p.R227C		27.7-Antaki2022 GE
MEX3A     SP0044549chr1:
156047092-156047092		CGexonicnonsynonymous SNVNM_001093725c.G836Cp.R279P24.0-Antaki2022 GE
ASH1L     SP0074229chr1:
155451739-155451739		GGTexonicframeshift insertionNM_018489c.921dupAp.L308fs--Antaki2022 GE
PRCC     SP0087301chr1:
156767074-156767074		GAexonicnonsynonymous SNVNM_005973c.G1330Ap.G444S18.01-Antaki2022 GE
HAPLN2     SP0106988chr1:
156593659-156593659		GTexonicnonsynonymous SNVNM_021817c.G146Tp.R49L22.9-Antaki2022 GE
SMG7     SP0031103chr1:
183502381-183502381		GAexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569		c.G800A
c.G926A
c.G926A
c.G926A		p.R267H
p.R309H
p.R309H
p.R309H		33.0-Antaki2022 GE
CACNA1E     SP0114903chr1:
181754552-181754552		CTexonicstopgainNM_001205294
NM_000721
NM_001205293		c.C5620T
c.C5677T
c.C5677T		p.Q1874X
p.Q1893X
p.Q1893X		48.0-Antaki2022 GE
NAV1     SP0115318chr1:
201779672-201779672		AGexonicnonsynonymous SNVNM_001167738
NM_020443		c.A3401G
c.A4583G		p.D1134G
p.D1528G		25.6-Antaki2022 GE
NAV1     SP0120937chr1:
201618322-201618322		CGexonicnonsynonymous SNVNM_020443c.C526Gp.R176G24.1-Antaki2022 GE
RFWD2     SSC12614chr1:
175958552-175958552		TCexonicnonsynonymous SNVNM_001286644
NM_001001740
NM_022457		c.A1073G
c.A1721G
c.A1793G		p.H358R
p.H574R
p.H598R		24.3-Antaki2022 GE
ATP1B1     SSC06202chr1:
169096506-169096506		CTexonicstopgainNM_001677c.C427Tp.R143X15.99-Antaki2022 GE
CACNA1E     SSC03395chr1:
181708295-181708295		GAexonicnonsynonymous SNVNM_001205294
NM_000721
NM_001205293		c.G3568A
c.G3625A
c.G3625A		p.G1190S
p.G1209S
p.G1209S		35.0-Antaki2022 GE
CACNA1E     SP0074183chr1:
181706787-181706787		CAexonicnonsynonymous SNVNM_001205294
NM_000721
NM_001205293		c.C3492A
c.C3549A
c.C3549A		p.N1164K
p.N1183K
p.N1183K		20.2-Antaki2022 GE
H3F3A     SP0113994chr1:
226253371-226253371		CTexonicnonsynonymous SNVNM_002107c.C143Tp.A48V20.4-Antaki2022 GE
WDR26     SSC07686chr1:
224612259-224612259		GAexonicnonsynonymous SNVNM_001115113
NM_025160		c.C677T
c.C725T		p.P226L
p.P242L		28.5-Antaki2022 GE
SIPA1L2     SP0083577chr1:
232649874-232649879		GTCGTTGexonicframeshift deletionNM_020808c.1207_1211delp.N403fs--Antaki2022 GE
RHOU     SP0020827chr1:
228871599-228871599		GTexonicnonsynonymous SNVNM_021205c.G110Tp.G37V11.93-Antaki2022 GE
RBBP5     SP0086220chr1:
205068157-205068157		ACexonicnonsynonymous SNVNM_001193272
NM_001193273
NM_005057		c.T1056G
c.T675G
c.T1056G		p.F352L
p.F225L
p.F352L		19.74-Antaki2022 GE
SYT2     SSC04591chr1:
202568427-202568427		CGexonicnonsynonymous SNVNM_001136504
NM_177402		c.G972C
c.G972C		p.K324N
p.K324N		32.0-Antaki2022 GE
KCTD3     SSC08761chr1:
215751377-215751377		GAexonicnonsynonymous SNVNM_016121c.G350Ap.R117H18.818.0E-4Antaki2022 GE
LPGAT1     SP0140028chr1:
211924322-211924324		TAATexonicframeshift deletionNM_014873c.940_941delp.L314fs--Antaki2022 GE
ZMYND11     SP0032272chr10:
286037-286039		GACGexonicframeshift deletionNM_001202465
NM_001202467
NM_001202464
NM_001202466
NM_001202468
NM_006624
NM_212479		c.485_486del
c.578_579del
c.578_579del
c.575_576del
c.740_741del
c.740_741del
c.737_738del		p.D162fs
p.D193fs
p.D193fs
p.D192fs
p.D247fs
p.D247fs
p.D246fs		--Antaki2022 GE
AHCTF1     SSC06079chr1:
247007232-247007232		TAsplicingsplicing13.050.0067Antaki2022 GE
DIP2C     SSC05172chr10:
428608-428608		GGCexonicframeshift insertionNM_014974c.1969dupGp.A657fs--Antaki2022 GE
DIP2C     SJD_45.3chr10:
409180-409181		GAGexonicframeshift deletionNM_014974c.2548delTp.S850fs--Antaki2022 GE
DYNC1H1     SSC10335chr14:
102446851-102446851		CTexonicnonsynonymous SNVNM_001376c.C925Tp.R309C26.5-Antaki2022 GE
SIPA1L2     SP0083577chr1:
232649920-232649924		GAGTTGexonicframeshift deletionNM_020808c.1162_1165delp.N388fs--Antaki2022 GE
SIPA1L2     SP0083577chr1:
232649881-232649912		CTTTTCCCATCACCCTCATCGGCATCCAGGTTCexonicframeshift deletionNM_020808c.1174_1204delp.N392fs--Antaki2022 GE
HEATR1     SP0035186chr1:
236718593-236718597		CACCTCexonicframeshift deletionNM_018072c.5922_5923delp.T1974fs--Antaki2022 GE
ARID4B     MT_63.3chr1:
235377184-235377184		GAexonicstopgainNM_001206794
NM_016374		c.C1741T
c.C1741T		p.R581X
p.R581X		44.0-Antaki2022 GE
ZEB1     SP0018656chr10:
31809151-31809152		ACAexonicframeshift deletionNM_001174093
NM_001174095
NM_001128128
NM_001174094
NM_001174096
NM_030751		c.829delC
c.688delC
c.841delC
c.838delC
c.892delC
c.889delC		p.P277fs
p.P230fs
p.P281fs
p.P280fs
p.P298fs
p.P297fs		--Antaki2022 GE
WAC     SSC10854chr10:
28899668-28899672		AATTCAexonicframeshift deletionNM_100486
NM_016628
NM_100264		c.898_901del
c.1207_1210del
c.1072_1075del		p.I300fs
p.I403fs
p.I358fs		--Antaki2022 GE
ANK3     SP0132152chr10:
62039364-62039364		GAexonicstopgainNM_001204404
NM_020987
NM_001204403		c.C97T
c.C148T
c.C130T		p.R33X
p.R50X
p.R44X		37.0-Antaki2022 GE
ITGB1     SP0110819chr10:
33190547-33190547		TCexonicnonsynonymous SNVNM_002211
NM_133376		c.A2348G
c.A2348G		p.Y783C
p.Y783C		16.78-Antaki2022 GE
CELF2     SP0087382chr10:
11312678-11312680		AAGAexonicframeshift deletionNM_001025076
NM_001025077
NM_001083591
NM_006561		c.576_577del
c.648_649del
c.576_577del
c.669_670del		p.K192fs
p.K216fs
p.K192fs
p.K223fs		--Antaki2022 GE
KLF6     SP0142234chr10:
3821759-3821759		ACexonicnonsynonymous SNVNM_001160125
NM_001160124
NM_001300		c.T700G
c.T698G
c.T824G		p.W234G
p.L233R
p.L275R		20.8-Antaki2022 GE
WAC     SSC10126chr10:
28879673-28879675		CAACexonicframeshift deletionNM_016628
NM_100264
NM_100486		c.523_524del
c.388_389del
c.523_524del		p.K175fs
p.K130fs
p.K175fs		--Antaki2022 GE
UPF2     SP0082022chr10:
12070793-12070793		GGTexonicframeshift insertionNM_015542
NM_080599		c.1095dupA
c.1095dupA		p.H366fs
p.H366fs		--Antaki2022 GE
PTEN     SP0010524chr10:
89624249-89624249		TAexonicnonsynonymous SNVNM_000314
NM_001304717		c.T23A
c.T542A		p.I8N
p.I181N		17.75-Antaki2022 GE
WAPL     SP0065549chr10:
88227040-88227040		AGexonicnonsynonymous SNVNM_015045c.T2366Cp.I789T22.9-Antaki2022 GE
PTEN     SP0010765chr10:
89692940-89692940		CTexonicnonsynonymous SNVNM_000314
NM_001304717		c.C424T
c.C943T		p.R142W
p.R315W		24.18.242E-6Antaki2022 GE
PTEN     SP0063977chr10:
89692919-89692919		ACexonicnonsynonymous SNVNM_000314
NM_001304717		c.A403C
c.A922C		p.I135L
p.I308L		29.5-Antaki2022 GE
ZSWIM8     SP0119829chr10:
75550815-75550815		CGexonicnonsynonymous SNVNM_001242487
NM_001242488
NM_015037		c.C1024G
c.C1024G
c.C1024G		p.R342G
p.R342G
p.R342G		14.89-Antaki2022 GE
LRRTM3     SP0091837chr10:
68857539-68857540		ACAexonicframeshift deletionNM_178011c.1732delCp.Q578fs--Antaki2022 GE
KCNMA1     SP0000267chr10:
78708954-78708954		GCexonicstopgainNM_001271518
NM_002247
NM_001014797
NM_001161352
NM_001161353
NM_001271519		c.C2331G
c.C2481G
c.C2493G
c.C2655G
c.C2604G
c.C2490G		p.Y777X
p.Y827X
p.Y831X
p.Y885X
p.Y868X
p.Y830X		38.0-Antaki2022 GE
KCNMA1     SP0053238chr10:
78669812-78669812		TCexonicnonsynonymous SNVNM_001271518
NM_002247
NM_001014797
NM_001161352
NM_001161353
NM_001271519		c.A2735G
c.A2885G
c.A2897G
c.A3059G
c.A3008G
c.A2975G		p.D912G
p.D962G
p.D966G
p.D1020G
p.D1003G
p.D992G		22.2-Antaki2022 GE
CPEB3     SP0061153chr10:
93812048-93812048		CTexonicnonsynonymous SNVNM_001178137
NM_014912		c.G1976A
c.G2018A		p.R659Q
p.R673Q		25.21.657E-5Antaki2022 GE
BTAF1     SSC02891chr10:
93723898-93723899		CACexonicframeshift deletionNM_003972c.1470delAp.T490fs--Antaki2022 GE
PSD     SP0015806chr10:
104164350-104164350		CTexonicnonsynonymous SNVNM_002779
NM_001270965
NM_001270966		c.G2690A
c.G2690A
c.G1553A		p.R897H
p.R897H
p.R518H		23.0-Antaki2022 GE
PI4K2A     SP0032281chr10:
99410824-99410824		CGexonicnonsynonymous SNVNM_018425c.C562Gp.Q188E18.94-Antaki2022 GE
PTEN     SSC00881chr10:
89711882-89711882		CAexonicnonsynonymous SNVNM_000314
NM_001304717		c.C500A
c.C1019A		p.T167N
p.T340N		28.6-Antaki2022 GE
PTEN     SP0101364chr10:
89692995-89692995		CTexonicnonsynonymous SNVNM_000314
NM_001304717		c.C479T
c.C998T		p.T160I
p.T333I		25.9-Antaki2022 GE
BTAF1     SSC02891chr10:
93723820-93723851		AACTGATCTTATAGGTGCCCTTCATTATAAATAexonicnonframeshift deletionNM_003972c.1405_1422delp.469_474del--Antaki2022 GE
HECTD2     SP0060728chr10:
93247494-93247494		ATexonicnonsynonymous SNVNM_182765
NM_001284274		c.A1150T
c.A1162T		p.I384F
p.I388F		18.64-Antaki2022 GE
TCF7L2     SSC12283chr10:
114910883-114910883		GAsplicingsplicing19.91-Antaki2022 GE
TCF7L2     SSC07122chr10:
114901076-114901076		GAsplicingsplicing29.5-Antaki2022 GE
TIAL1     SSC12283chr10:
121336635-121336635		TCexonicnonsynonymous SNVNM_001033925
NM_003252		c.A869G
c.A818G		p.Y290C
p.Y273C		16.79-Antaki2022 GE
TCF7L2     SP0070682chr10:
114912173-114912173		CGexonicnonsynonymous SNVNM_001198530
NM_001146284
NM_001146285
NM_001146286
NM_001198525
NM_001198526
NM_001198527
NM_001198528
NM_001198529
NM_030756
NM_001146274
NM_001146283
NM_001198531		c.C1072G
c.C1162G
c.C1174G
c.C1174G
c.C1189G
c.C1174G
c.C1162G
c.C1174G
c.C1174G
c.C1174G
c.C1243G
c.C1315G
c.C1243G		p.P358A
p.P388A
p.P392A
p.P392A
p.P397A
p.P392A
p.P388A
p.P392A
p.P392A
p.P392A
p.P415A
p.P439A
p.P415A		31.0-Antaki2022 GE
PSD     SP0065132chr10:
104174759-104174773		AGGCAGTGCCTGGTGAexonicframeshift deletionNM_002779
NM_001270965		c.971_984del
c.971_984del		p.P324fs
p.P324fs		--Antaki2022 GE
PSD     SP0134424chr10:
104165148-104165148		CTexonicnonsynonymous SNVNM_002779
NM_001270965
NM_001270966		c.G2281A
c.G2281A
c.G1144A		p.G761R
p.G761R
p.G382R		27.0-Antaki2022 GE
SMC3     SP0027490chr10:
112359515-112359515		TGexonicnonsynonymous SNVNM_005445c.T2372Gp.L791W20.2-Antaki2022 GE
TRIM8     SP0042458chr10:
104404454-104404454		AGexonicnonsynonymous SNVNM_030912c.A80Gp.Q27R18.79-Antaki2022 GE
BRSK2     SP0123492chr11:
1477639-1477639		CCGexonicframeshift insertionNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957		c.1731dupG
c.1731dupG
c.1869dupG
c.1551dupG
c.1731dupG		p.T577fs
p.T577fs
p.T623fs
p.T517fs
p.T577fs		--Antaki2022 GE
BRSK2     216287chr11:
1463794-1463794		CTexonicnonsynonymous SNVNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957		c.C488T
c.C488T
c.C626T
c.C308T
c.C488T		p.A163V
p.A163V
p.A209V
p.A103V
p.A163V		27.7-Antaki2022 GE
CDKN1C     SP0125430chr11:
2906433-2906433		TCexonicnonsynonymous SNVNM_000076
NM_001122630
NM_001122631		c.A287G
c.A254G
c.A254G		p.Q96R
p.Q85R
p.Q85R		17.65-Antaki2022 GE
BRSK2     SSC00428chr11:
1481761-1481762		TATexonicframeshift deletionNM_001256627c.2020delAp.K674fs--Antaki2022 GE
EBF3     SP0037139chr10:
131757201-131757201		CTexonicnonsynonymous SNVNM_001005463c.G482Ap.C161Y27.5-Antaki2022 GE
EBF3     SP0063809chr10:
131641435-131641435		ATexonicnonsynonymous SNVNM_001005463c.T1133Ap.V378E21.2-Antaki2022 GE
BRSK2     SP0063187chr11:
1459545-1459545		GAexonicnonsynonymous SNVNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957		c.G196A
c.G196A
c.G334A
c.G16A
c.G196A		p.E66K
p.E66K
p.E112K
p.E6K
p.E66K		19.86-Antaki2022 GE
EBF3     SP0121598chr10:
131757261-131757261		TCexonicnonsynonymous SNVNM_001005463c.A422Gp.Y141C23.6-Antaki2022 GE
CAPRIN1     SP0103536chr11:
34107664-34107664		GGCexonicframeshift insertionNM_005898
NM_203364		c.1021dupC
c.1021dupC		p.E340fs
p.E340fs		--Antaki2022 GE
CSTF3     SP0066376chr11:
33163191-33163191		AAAAAATexonicframeshift insertionNM_001033505c.246_247insATTTTp.F83fs-3.0E-4Antaki2022 GE
PHF21A     SP0080084chr11:
45955605-45955606		CACexonicframeshift deletionNM_001101802
NM_016621		c.1956delT
c.1818delT		p.P652fs
p.P606fs		--Antaki2022 GE
CHST1     SP0072341chr11:
45671305-45671305		GCexonicnonsynonymous SNVNM_003654c.C1169Gp.S390W16.56-Antaki2022 GE
CTR9     SP0103059chr11:
10786236-10786238		CTGCexonicframeshift deletionNM_014633c.1556_1557delp.L519fs--Antaki2022 GE
APBB1     SSC12143chr11:
6417424-6417424		GGCexonicframeshift insertionNM_001257319
NM_001257320
NM_001257323
NM_001257325
NM_001257326
NM_001164
NM_001257321
NM_145689		c.1033dupG
c.916dupG
c.1027dupG
c.988dupG
c.916dupG
c.1693dupG
c.916dupG
c.1687dupG		p.A345fs
p.A306fs
p.A343fs
p.A330fs
p.A306fs
p.A565fs
p.A306fs
p.A563fs		--Antaki2022 GE
CSTF3     SP0017375chr11:
33112148-33112148		AGexonicnonsynonymous SNVNM_001326c.T1571Cp.L524P20.4-Antaki2022 GE
SERGEF     SSC00428chr11:
17876348-17876348		GTintronic--Antaki2022 GE
CTNND1     SP0060331chr11:
57569278-57569278		CTexonicstopgainNM_001085469
NM_001085463
NM_001085464
NM_001085465
NM_001085466
NM_001085467
NM_001085468
NM_001206890
NM_001085462
NM_001206883
NM_001206884
NM_001206886
NM_001206887
NM_001206888
NM_001085458
NM_001085459
NM_001085460
NM_001085461
NM_001206885
NM_001206889
NM_001206891
NM_001331		c.C727T
c.C727T
c.C727T
c.C727T
c.C727T
c.C727T
c.C727T
c.C727T
c.C1030T
c.C868T
c.C868T
c.C868T
c.C868T
c.C868T
c.C1030T
c.C1030T
c.C1030T
c.C1030T
c.C1030T
c.C868T
c.C868T
c.C1030T		p.R243X
p.R243X
p.R243X
p.R243X
p.R243X
p.R243X
p.R243X
p.R243X
p.R344X
p.R290X
p.R290X
p.R290X
p.R290X
p.R290X
p.R344X
p.R344X
p.R344X
p.R344X
p.R344X
p.R290X
p.R290X
p.R344X		17.83-Antaki2022 GE
FNBP4     SSC03248chr11:
47788778-47788779		ACAexonicframeshift deletionNM_015308c.62delGp.G21fs--Antaki2022 GE
PTGDR2     SP0055914chr11:
60620714-60620714		AGexonicnonsynonymous SNVNM_004778c.T482Cp.L161P14.11-Antaki2022 GE
OSBP     SP0085951chr11:
59378033-59378033		CTexonicnonsynonymous SNVNM_002556c.G392Ap.R131H29.5-Antaki2022 GE
PHF21A     SSC00648chr11:
45971023-45971024		CTCexonicframeshift deletionNM_001101802
NM_016621		c.1153delA
c.1156delA		p.S385fs
p.S386fs		--Antaki2022 GE
PHF21A     SP0012890chr11:
45971009-45971009		GAexonicstopgainNM_001101802
NM_016621		c.C1168T
c.C1171T		p.R390X
p.R391X		43.0-Antaki2022 GE
PSMC3     SP0071328chr11:
47445677-47445677		GAexonicnonsynonymous SNVNM_002804c.C511Tp.R171W20.28.236E-6Antaki2022 GE
CHRM4     SP0030168chr11:
46407113-46407114		GCGexonicframeshift deletionNM_000741c.994delGp.A332fs--Antaki2022 GE
HNRNPUL2     SP0126796chr11:
62484535-62484536		GAGexonicframeshift deletionNM_001079559c.1906delTp.S636fs--Antaki2022 GE
HNRNPUL2     SP0094458chr11:
62482992-62482994		AATAexonicframeshift deletionNM_001079559c.2141_2142delp.Y714fs--Antaki2022 GE
MARK2     SP0006295chr11:
63666145-63666145		GAexonicnonsynonymous SNVNM_001039469
NM_001163296
NM_001163297
NM_004954
NM_017490		c.G403A
c.G403A
c.G403A
c.G403A
c.G304A		p.G135R
p.G135R
p.G135R
p.G135R
p.G102R		25.3-Antaki2022 GE
HNRNPUL2     SP0119831chr11:
62487558-62487559		GCGexonicframeshift deletionNM_001079559c.1716delGp.R572fs--Antaki2022 GE
CPSF7     SP0064532chr11:
61183901-61183901		CTexonicnonsynonymous SNVNM_001136040
NM_001142565
NM_024811		c.G641A
c.G614A
c.G770A		p.R214H
p.R205H
p.R257H		17.748.264E-6Antaki2022 GE
SLC15A3     SP0090613chr11:
60718972-60718972		GAexonicnonsynonymous SNVNM_016582c.C52Tp.P18S17.78-Antaki2022 GE
EEF1G     SP0097258chr11:
62327225-62327225		GAexonicstopgainNM_001404c.C1240Tp.R414X25.9-Antaki2022 GE
FADS3     SP0061557chr11:
61646066-61646066		TCexonicnonsynonymous SNVNM_021727c.A665Gp.H222R23.3-Antaki2022 GE
KDM2A     SP0061474chr11:
67020271-67020271		CTexonicnonsynonymous SNVNM_001256405
NM_012308		c.C1558T
c.C2875T		p.L520F
p.L959F		28.7-Antaki2022 GE
RBM14     SP0040277chr11:
66391711-66391711		GAexonicnonsynonymous SNVNM_001198836
NM_006328		c.G364A
c.G364A		p.E122K
p.E122K		15.68-Antaki2022 GE
ARHGEF17     SP0076623chr11:
73075607-73075607		CTexonicstopgainNM_014786c.C5512Tp.R1838X48.0-Antaki2022 GE
GRK2     SSC09642chr11:
67048606-67048606		GAexonicnonsynonymous SNVNM_001619c.G598Ap.G200R32.0-Antaki2022 GE
RPS6KA4     SP0044900chr11:
64136025-64136025		GAexonicnonsynonymous SNVNM_001006944
NM_001300802
NM_003942		c.G1268A
c.G1265A
c.G1286A		p.R423H
p.R422H
p.R429H		22.4-Antaki2022 GE
MARK2     MT_82.3chr11:
63667512-63667513		TGTexonicframeshift deletionNM_001039469
NM_001163296
NM_001163297
NM_004954
NM_017490		c.699delG
c.699delG
c.699delG
c.699delG
c.600delG		p.V233fs
p.V233fs
p.V233fs
p.V233fs
p.V200fs		--Antaki2022 GE
PACS1     SP0052828chr11:
65978677-65978677		CTexonicnonsynonymous SNVNM_018026c.C607Tp.R203W21.18.237E-6Antaki2022 GE
PPP2R5B     SSC10120chr11:
64695314-64695315		ACAexonicframeshift deletionNM_006244c.438delCp.N146fs--Antaki2022 GE
KMT2A     SP0074662chr11:
118307290-118307290		CCGexonicframeshift insertionNM_001197104
NM_005933		c.64dupG
c.64dupG		p.G21fs
p.G21fs		--Antaki2022 GE
DRD2     SP0105917chr11:
113287669-113287669		GAexonicnonsynonymous SNVNM_000795
NM_016574		c.C448T
c.C448T		p.R150C
p.R150C		25.31.689E-5Antaki2022 GE
KMT2A     SSC03230chr11:
118344386-118344387		TGTexonicframeshift deletionNM_001197104
NM_005933		c.2513delG
c.2513delG		p.W838fs
p.W838fs		--Antaki2022 GE
KMT2A     SP0107685chr11:
118343573-118343575		ACTAexonicframeshift deletionNM_001197104
NM_005933		c.1700_1701del
c.1700_1701del		p.T567fs
p.T567fs		--Antaki2022 GE
PICALM     SP0137641chr11:
85711749-85711759		GAGGTGGATACGexonicframeshift deletionNM_001008660
NM_001206946
NM_001206947
NM_007166		c.1081_1090del
c.1081_1090del
c.928_937del
c.1081_1090del		p.V361fs
p.V361fs
p.V310fs
p.V361fs		--Antaki2022 GE
PAK1     SP0058411chr11:
77090387-77090387		GAexonicnonsynonymous SNVNM_001128620
NM_002576		c.C338T
c.C338T		p.T113I
p.T113I		26.8-Antaki2022 GE
CUL5     SSC02626chr11:
107944174-107944174		GAexonicnonsynonymous SNVNM_003478c.G1063Ap.V355I20.9-Antaki2022 GE
EED     SP0066073chr11:
85968585-85968585		AGexonicnonsynonymous SNVNM_001308007
NM_003797		c.A581G
c.A581G		p.N194S
p.N194S		25.0-Antaki2022 GE
TBCEL