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Results for "Feliciano2019"

Variant Events: 717

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
ANK2     SP0020903chr4:
114254351-114254351		CTexonicDe novosynonymous SNVNM_001148
NM_020977
NM_001127493		c.C3366T
c.C3366T
c.C3339T		p.N1122N
p.N1122N
p.N1113N		0.0180.0014Feliciano2019 E
GPX6     SP0000605chr6:
28472206-28472206		GAexonicDe novounknown18.18-Feliciano2019 E
SLC28A3     SP0041645chr9:
86903067-86903067		CTexonicDe novosynonymous SNVNM_001199633
NM_022127		c.G1176A
c.G1176A		p.A392A
p.A392A		-0.0036Feliciano2019 E
GNE     SP0019306chr9:
36218241-36218241		CTexonicDe novosynonymous SNVNM_001190384
NM_001190383
NM_001190388
NM_001128227
NM_005476		c.G1542A
c.G1650A
c.G1857A
c.G1965A
c.G1872A		p.A514A
p.A550A
p.A619A
p.A655A
p.A624A		-0.0015Feliciano2019 E
REC8     SP0024054chr14:
24642348-24642348		CTexonicDe novosynonymous SNVNM_001048205
NM_005132		c.C282T
c.C282T		p.H94H
p.H94H		-0.1107Feliciano2019 E
DEPDC5     SP0030187chr22:
32229977-32229977		GAintronicDe novo-0.0994Feliciano2019 E
TRIM36     SP0041539chr5:
114480364-114480364		CTexonicDe novosynonymous SNVNM_001300752
NM_001300759
NM_018700		c.G237A
c.G666A
c.G702A		p.L79L
p.L222L
p.L234L		-0.1953Feliciano2019 E
PSAPL1     SP0048034chr4:
7435443-7435443		GAexonicDe novosynonymous SNVNM_001085382c.C1164Tp.D388D-0.1304Feliciano2019 E
NUMBL     SP0026711chr19:
41173769-41173769		GAexonicDe novosynonymous SNVNM_001289979
NM_001289980
NM_004756		c.C1311T
c.C1311T
c.C1434T		p.A437A
p.A437A
p.A478A		-0.0069Feliciano2019 E
THOP1     SP0010081chr19:
2810714-2810714		CTexonicDe novosynonymous SNVNM_003249c.C1719Tp.A573A-0.0059Feliciano2019 E
B4GALT2     SP0001571chr1:
44451234-44451234		CTexonicDe novosynonymous SNVNM_001005417
NM_003780
NM_030587		c.C909T
c.C909T
c.C996T		p.I303I
p.I303I
p.I332I		-0.0935Feliciano2019 E
SLC5A1     SP0038120chr22:
32487744-32487744		CTexonicDe novosynonymous SNVNM_001256314
NM_000343		c.C894T
c.C1275T		p.A298A
p.A425A		-0.0502Feliciano2019 E
CR1     SP0029048chr1:
207680060-207680060		TCexonicDe novosynonymous SNVNM_000573
NM_000651		c.T303C
c.T303C		p.R101R
p.R101R		0.0318.291E-6Feliciano2019 E
EML3     SP0043178chr11:
62376014-62376014		CTexonicDe novosynonymous SNVNM_001300793
NM_001300794
NM_153265		c.G1113A
c.G1110A
c.G1110A		p.A371A
p.A370A
p.A370A		12.418.264E-6Feliciano2019 E
XPC     SP0006477chr3:
14209774-14209774		CTexonicDe novosynonymous SNVNM_004628c.G519Ap.A173A-9.07E-6Feliciano2019 E
CACNA1H     SP0004175chr16:
1259413-1259413		GAsplicingDe novosplicing9.4098.984E-6Feliciano2019 E
RNF25     SP0027065chr2:
219529513-219529513		TTCexonicDe novoframeshift insertionNM_022453c.749dupGp.G250fs-8.239E-6Feliciano2019 E
TMPRSS5     SP0018069chr11:
113560999-113560999		CCGexonicDe novoframeshift insertionNM_001288749
NM_001288752
NM_001288750
NM_001288751
NM_030770		c.820dupC
c.952dupC
c.1027dupC
c.1132dupC
c.1159dupC		p.R274fs
p.R318fs
p.R343fs
p.R378fs
p.R387fs		--Feliciano2019 E
ZNF454     SP0043178chr5:
178392606-178392606		CTexonicDe novostopgainNM_001178089
NM_001178090
NM_182594		c.C1201T
c.C1201T
c.C1201T		p.R401X
p.R401X
p.R401X		34.08.262E-6Feliciano2019 E
PTPN18     SP0028464chr2:
131116972-131116972		CTexonicDe novosynonymous SNVNM_014369c.C282Tp.G94G-8.242E-6Feliciano2019 E
TSPAN4     SP0020473chr11:
865824-865824		CTexonicDe novononsynonymous SNVNM_001025238
NM_001025239
NM_001025234
NM_001025235
NM_001025236
NM_001025237
NM_003271		c.C563T
c.C371T
c.C563T
c.C563T
c.C563T
c.C563T
c.C563T		p.A188V
p.A124V
p.A188V
p.A188V
p.A188V
p.A188V
p.A188V		12.533.539E-5Feliciano2019 E
G3BP1     SP0042629chr5:
151179781-151179781		CTexonicDe novononsynonymous SNVNM_005754
NM_198395		c.C958T
c.C958T		p.R320C
p.R320C		16.442.474E-5Feliciano2019 E
ARHGAP10     SP0001890chr4:
148968201-148968201		AGexonicDe novononsynonymous SNVNM_024605c.A2026Gp.I676V0.0496.0E-4Feliciano2019 E
COL21A1     SP0018075chr6:
55929393-55929395		CCTCexonicDe novoframeshift deletionNM_030820c.2153_2154delp.Q718fs-4.0E-4Feliciano2019 E
DUS1L     SP0009232chr17:
80018579-80018579		CTexonicDe novosynonymous SNVNM_022156c.G1020Ap.P340P-9.405E-6Feliciano2019 E
ADAMTS15     SP0000753chr11:
130339155-130339155		AGsplicingDe novosplicing16.489.121E-6Feliciano2019 E
UNKL     SP0018301chr16:
1417169-1417169		TTCCCCACAGexonicDe novoframeshift insertionNM_001276414c.457_458insCTGTGGGGp.D153fs-1.451E-5Feliciano2019 E
NOC4L     SP0008074chr12:
132632522-132632522		CTexonicDe novononsynonymous SNVNM_024078c.C701Tp.A234V11.561.018E-5Feliciano2019 E
CHD8     SP0000759chr14:
21871807-21871807		AATexonicDe novoframeshift insertionNM_001170629
NM_020920		c.3322dupA
c.2485dupA		p.I1108fs
p.I829fs		--Feliciano2019 E
ZNF548     SP0000117chr19:
57909941-57909941		AATTexonicDe novoframeshift insertionNM_152909
NM_001172773		c.286_287insTT
c.322_323insTT		p.I96fs
p.I108fs		--Feliciano2019 E
TTC12     SP0000978chr11:
113210056-113210057		AGAexonicDe novoframeshift deletionNM_017868c.687delGp.K229fs--Feliciano2019 E
ABCF3     SP0000855chr3:
183907213-183907213		GAexonicDe novostopgainNM_018358c.G1095Ap.W365X35.0-Feliciano2019 E
SHANK3     SP0001367chr22:
51160866-51160866		GTsplicingDe novosplicing20.9-Feliciano2019 E
SHANK3     SP0051409chr22:
51159932-51159932		TTGexonicDe novoframeshift insertionNM_033517c.3630dupGp.L1210fs-6.0E-4Feliciano2019 E
CHCHD4     SP0047177chr3:
14163416-14163416		CAsplicingDe novosplicing2.642-Feliciano2019 E
PDE4DIP     SP0036741chr1:
144946624-144946624		CTsplicingMosaic, De novosplicing11.09-Feliciano2019 E
Feliciano2019 E
TRPM8     SP0001931chr2:
234890420-234890420		TGexonicDe novononsynonymous SNVNM_024080c.T2450Gp.L817R14.78-Feliciano2019 E
THBS1     SP0001817chr15:
39885308-39885308		CTexonicDe novostopgainNM_003246c.C2875Tp.R959X42.0-Feliciano2019 E
NBAS     SP0002235chr2:
15618415-15618415		TAsplicingDe novosplicing24.4-Feliciano2019 E
ATP6V0D2     SP0002090chr8:
87163695-87163695		GAexonicDe novononsynonymous SNVNM_152565c.G817Ap.V273I13.81-Feliciano2019 E
AKAP10     SP0001272chr17:
19835117-19835117		CTsplicingDe novosplicing15.07-Feliciano2019 E
KDM5B     SP0001272chr1:
202698891-202698891		CCAexonicDe novostopgainNM_006618
NM_001314042		c.4440dupT
c.4548dupT		p.E1481_D1482delinsX
p.E1517_D1518delinsX		--Feliciano2019 E
ADNP     SP0001740chr20:
49508976-49509001		GACCCTTGGGGTCTAAAGCTAAAACAGexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2250_2274del
c.2250_2274del
c.2250_2274del
c.2250_2274del		p.V750fs
p.V750fs
p.V750fs
p.V750fs		--Feliciano2019 E
PREX1     SP0001571chr20:
47309210-47309210		CGexonicDe novononsynonymous SNVNM_020820c.G1036Cp.A346P33.0-Feliciano2019 E
TRERF1     SP0003070chr6:
42227401-42227401		GAexonicDe novostopgainNM_001297573
NM_033502		c.C2005T
c.C1945T		p.Q669X
p.Q649X		46.0-Feliciano2019 E
TXK     SP0002657chr4:
48116418-48116418		AGexonicDe novosynonymous SNVNM_003328c.T18Cp.Y6Y--Feliciano2019 E
NBEA     SP0003496chr13:
35615208-35615208		CTexonicDe novostopgainNM_015678c.C433Tp.R145X43.0-Feliciano2019 E
CHD8     SP0003489chr14:
21899097-21899097		GAexonicDe novostopgainNM_001170629c.C706Tp.Q236X37.0-Feliciano2019 E
MAP3K15     SP0002235chrX:
19379535-19379535		TAsplicingDe novosplicing12.21-Feliciano2019 E
FBN2     SP0002235chr5:
127713510-127713511		TCTexonicDe novoframeshift deletionNM_001999c.1783delGp.D595fs--Feliciano2019 E
LYST     SP0002657chr1:
235972757-235972757		CTexonicDe novostopgainNM_000081
NM_001301365		c.G1361A
c.G1361A		p.W454X
p.W454X		40.0-Feliciano2019 E
ALDH6A1     SP0002305chr14:
74539066-74539066		GCexonicDe novononsynonymous SNVNM_001278593
NM_005589		c.C188G
c.C188G		p.A63G
p.A63G		34.0-Feliciano2019 E
SRRM2     SP0008634chr16:
2816707-2816707		CTexonicDe novostopgainNM_016333c.C6178Tp.R2060X48.0-Feliciano2019 E
RALGAPB     SP0008074chr20:
37150289-37150289		AATexonicDe novoframeshift insertionNM_001282917
NM_001282918
NM_020336		c.1568dupT
c.1568dupT
c.1568dupT		p.I523fs
p.I523fs
p.I523fs		--Feliciano2019 E
SLC15A1     SP0009287chr13:
99354735-99354735		TCexonicDe novononsynonymous SNVNM_005073c.A1465Gp.R489G11.71-Feliciano2019 E
DUOX2     SP0009120chr15:
45389513-45389513		TTAGexonicDe novoframeshift insertionNM_014080c.3769_3770insCTp.Y1257fs--Feliciano2019 E
SYNGAP1     SP0006454chr6:
33403084-33403084		TCsplicingDe novosplicing18.83-Feliciano2019 E
FAT1     SP0006235chr4:
187519280-187519280		CTsplicingDe novosplicing16.95-Feliciano2019 E
ITGA4     SP0007370chr2:
182389965-182389967		CAGCexonicDe novoframeshift deletionNM_000885c.2287_2288delp.R763fs--Feliciano2019 E
ASXL3     SP0007002chr18:
31325781-31325781		TTATCCexonicDe novoframeshift insertionNM_030632c.5969_5970insATCCp.L1990fs--Feliciano2019 E
HNMT     SP0012364chr2:
138727786-138727786		ACexonicDe novosynonymous SNVNM_001024075
NM_006895		c.A189C
c.A189C		p.A63A
p.A63A		--Feliciano2019 E
CHD8     SP0011046chr14:
21896030-21896030		GCexonicDe novosynonymous SNVNM_001170629
NM_020920		c.C1599G
c.C762G		p.L533L
p.L254L		--Feliciano2019 E
AFF3     SP0015356chr2:
100210613-100210614		CGCexonicDe novoframeshift deletionNM_001025108
NM_002285		c.1584delC
c.1509delC		p.D528fs
p.D503fs		--Feliciano2019 E
WDR20     SP0013376chr14:
102675666-102675667		ATAexonicDe novoframeshift deletionNM_001242416
NM_181308
NM_001242418
NM_144574
NM_181291
NM_001242417		c.977delT
c.977delT
c.1196delT
c.1160delT
c.1160delT
c.1253delT		p.I326fs
p.I326fs
p.I399fs
p.I387fs
p.I387fs
p.I418fs		--Feliciano2019 E
ARHGAP45     SP0009922chr19:
1085982-1085982		GTexonicDe novostopgainNM_001282334
NM_001282335
NM_001258328
NM_012292		c.G2293T
c.G3037T
c.G3436T
c.G3388T		p.E765X
p.E1013X
p.E1146X
p.E1130X		39.0-Feliciano2019 E
C6orf106     SP0009874chr6:
34574337-34574338		TGTexonicDe novostopgainNM_022758
NM_024294		c.657delC
c.855delC		p.Y219X
p.Y285X		--Feliciano2019 E
FOXP1     SP0010429chr3:
71101750-71101751		GTGexonicDe novoframeshift deletionNM_001244813
NM_001244815
NM_001244814
NM_001244816
NM_001244808
NM_001244810
NM_032682		c.147delA
c.453delA
c.447delA
c.447delA
c.447delA
c.447delA
c.447delA		p.K49fs
p.K151fs
p.K149fs
p.K149fs
p.K149fs
p.K149fs
p.K149fs		--Feliciano2019 E
MYO9A     SP0010081chr15:
72190403-72190405		CTGCexonicDe novoframeshift deletionNM_006901c.4439_4440delp.T1480fs--Feliciano2019 E
ING2     SP0018345chr4:
184431954-184431956		AACAexonicDe novoframeshift deletionNM_001291959
NM_001564		c.573_574del
c.693_694del		p.E191fs
p.E231fs		--Feliciano2019 E
LZTR1     SP0018301chr22:
21348492-21348492		GTexonicDe novostopgainNM_006767c.G1549Tp.E517X43.0-Feliciano2019 E
AGPS     SP0018758chr2:
178370301-178370301		CTexonicDe novostopgainNM_003659c.C1543Tp.R515X38.0-Feliciano2019 E
DOCK8     SP0018345chr9:
370229-370229		GCsplicingDe novosplicing26.1-Feliciano2019 E
MISP     SP0016887chr19:
761662-761662		AGexonicDe novononsynonymous SNVNM_173481c.A1949Gp.E650G8.597-Feliciano2019 E
CHTF18     SP0016671chr16:
842222-842222		ATsplicingDe novosplicing12.61-Feliciano2019 E
GIGYF1     SP0017274chr7:
100284305-100284305		GAexonicDe novostopgainNM_022574c.C661Tp.R221X47.0-Feliciano2019 E
RCOR3     SP0017252chr1:
211451506-211451506		GAexonicDe novostopgainNM_018254
NM_001136223
NM_001136224
NM_001136225		c.G390A
c.G564A
c.G564A
c.G564A		p.W130X
p.W188X
p.W188X
p.W188X		36.0-Feliciano2019 E
CBX1     SP0022360chr17:
46152445-46152446		GCGexonicDe novoframeshift deletionNM_001127228
NM_006807		c.335delG
c.335delG		p.G112fs
p.G112fs		--Feliciano2019 E
SLC24A1     SP0022360chr15:
65942794-65942799		TGAAGATexonicDe novoframeshift deletionNM_001254740
NM_001301032
NM_001301031
NM_004727
NM_001301033		c.289_293del
c.2254_2258del
c.2308_2312del
c.2308_2312del
c.2254_2258del		p.E97fs
p.E752fs
p.E770fs
p.E770fs
p.E752fs		--Feliciano2019 E
CUBN     SP0022582chr10:
16882437-16882437		CTexonicDe novostopgainNM_001081c.G9924Ap.W3308X50.0-Feliciano2019 E
MRPL14     SP0022437chr6:
44081931-44081931		CCAexonicDe novoframeshift insertionNM_032111c.86dupTp.L29fs--Feliciano2019 E
FAM135A     SP0019186chr6:
71138099-71138099		CAexonicDe novostopgainNM_001162529
NM_020819
NM_001105531		c.C54A
c.C54A
c.C54A		p.Y18X
p.Y18X
p.Y18X		39.0-Feliciano2019 E
QRICH1     SP0018758chr3:
49069683-49069683		GAexonicDe novostopgainNM_198880
NM_017730		c.C2071T
c.C2071T		p.Q691X
p.Q691X		42.0-Feliciano2019 E
DMWD     SP0021004chr19:
46289770-46289771		GCGexonicDe novoframeshift deletionNM_004943c.983delGp.G328fs--Feliciano2019 E
SH3RF3     SP0020685chr2:
110049097-110049098		TCTexonicDe novoframeshift deletionNM_001099289c.1545delCp.F515fs--Feliciano2019 E
PLXNA2     SP0027605chr1:
208201505-208201505		CAsplicingDe novosplicing23.0-Feliciano2019 E
CHD3     SP0027448chr17:
7809304-7809308		TTAAGTexonicDe novononframeshift deletionNM_001005271
NM_001005273
NM_005852		c.4533_4535del
c.4356_4358del
c.4356_4358del		p.1511_1512del
p.1452_1453del
p.1452_1453del		--Feliciano2019 E
IRF2BPL     SP0028603chr14:
77492342-77492343		CGCexonicDe novoframeshift deletionNM_024496c.1793delCp.P598fs--Feliciano2019 E
CNTNAP2     SP0028519chr7:
147914427-147914427		CTexonicDe novostopgainNM_014141c.C3058Tp.Q1020X39.0-Feliciano2019 E
FOXP1     SP0026093chr3:
71019886-71019886		CCCTGTAAAGCTGCAsplicingDe novosplicing--Feliciano2019 E
HNRNPU     SP0023172chr1:
245027102-245027102		GAexonicDe novostopgainNM_004501
NM_031844		c.C508T
c.C508T		p.Q170X
p.Q170X		37.0-Feliciano2019 E
PPCS     SP0027448chr1:
42922450-42922451		GCGexonicDe novoframeshift deletionNM_001287511
NM_024664		c.215delC
c.215delC		p.A72fs
p.A72fs		--Feliciano2019 E
MEIS2     SP0026296chr15:
37385901-37385901		GAexonicDe novostopgainNM_172315
NM_002399
NM_170674
NM_170675
NM_170676
NM_170677
NM_172316
NM_001220482		c.C481T
c.C481T
c.C520T
c.C520T
c.C520T
c.C520T
c.C256T
c.C520T		p.R161X
p.R161X
p.R174X
p.R174X
p.R174X
p.R174X
p.R86X
p.R174X		40.0-Feliciano2019 E
YBX1     SP0033400chr1:
43162341-43162341		CCTexonicDe novoframeshift insertionNM_004559c.384dupTp.P128fs--Feliciano2019 E
CERS1     SP0032837chr19:
19004224-19004224		CTsplicingDe novosplicing19.47-Feliciano2019 E
SPRY1     SP0034714chr4:
124323354-124323354		CCAexonicDe novoframeshift insertionNM_001258039
NM_005841
NM_199327
NM_001258038		c.608_609insA
c.608_609insA
c.608_609insA
c.608_609insA		p.A203fs
p.A203fs
p.A203fs
p.A203fs		--Feliciano2019 E
HRAS     SP0033959chr11:
533598-533598		CCGTTTexonicDe novoframeshift insertionNM_001130442
NM_005343
NM_176795		c.304_305insAAAC
c.304_305insAAAC
c.304_305insAAAC		p.R102fs
p.R102fs
p.R102fs		--Feliciano2019 E
AGRN     SP0030765chr1:
982835-982835		GAsplicingDe novosplicing8.842-Feliciano2019 E
PCDHGA12     SP0029029chr5:
140811509-140811509		GGAexonicDe novoframeshift insertionNM_003735
NM_032094		c.1184dupA
c.1184dupA		p.E395fs
p.E395fs		--Feliciano2019 E
CELF6       SP0032712chr15:
72580647-72580647		AGsplicingDe novosplicing21.3-Feliciano2019 E
SETD1A     SP0031524chr16:
30976438-30976438		TTCexonicDe novoframeshift insertionNM_014712c.1376dupCp.S459fs--Feliciano2019 E
CLASP2     SP0039371chr3:
33648243-33648243		TCexonicDe novononsynonymous SNVNM_001207044
NM_015097		c.A835G
c.A1537G		p.M279V
p.M513V		14.53-Feliciano2019 E
SCN2A     SP0037822chr2:
166187917-166187917		ATexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.A2227T
c.A2227T
c.A2227T		p.K743X
p.K743X
p.K743X		40.0-Feliciano2019 E
MRPS28     SP0040236chr8:
80831329-80831330		CGCexonicDe novoframeshift deletionNM_014018c.449delCp.T150fs--Feliciano2019 E
MBD5     SP0039864chr2:
149227521-149227525		TCAGATexonicDe novoframeshift deletionNM_018328c.2010_2013delp.L670fs--Feliciano2019 E
TTN     SP0037023chr2:
179474028-179474028		GAexonicDe novostopgainNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550		c.C24814T
c.C25189T
c.C25390T
c.C44305T
c.C47086T
c.C52009T		p.R8272X
p.R8397X
p.R8464X
p.R14769X
p.R15696X
p.R17337X		60.0-Feliciano2019 E
RERE     SP0034975chr1:
8716308-8716308		GAexonicDe novostopgainNM_001042681
NM_012102		c.C49T
c.C49T		p.R17X
p.R17X		41.0-Feliciano2019 E
BRSK2     SP0037695chr11:
1472606-1472607		ACAexonicDe novoframeshift deletionNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957		c.1502delC
c.1502delC
c.1640delC
c.1322delC
c.1502delC		p.T501fs
p.T501fs
p.T547fs
p.T441fs
p.T501fs		--Feliciano2019 E
FEZF2     SP0037344chr3:
62355946-62355947		AGAexonicDe novoframeshift deletionNM_018008c.1191delCp.A397fs--Feliciano2019 E
DPP6     SP0043850chr7:
154585859-154585859		CTexonicDe novostopgainNM_001290252
NM_001039350
NM_001936
NM_130797		c.C886T
c.C1015T
c.C1021T
c.C1207T		p.Q296X
p.Q339X
p.Q341X
p.Q403X		39.0-Feliciano2019 E
CDHR2     SP0043623chr5:
176005366-176005366		GAexonicDe novosynonymous SNVNM_001171976
NM_017675		c.G1575A
c.G1575A		p.G525G
p.G525G		--Feliciano2019 E
LIG3     SP0045640chr17:
33310570-33310570		ACexonicDe novosynonymous SNVNM_002311
NM_013975		c.A546C
c.A546C		p.A182A
p.A182A		--Feliciano2019 E
CHD2     SP0045640chr15:
93540530-93540530		GAexonicDe novostopgainNM_001271c.G3782Ap.W1261X49.0-Feliciano2019 E
MOCS3     SP0041946chr20:
49575450-49575451		TGTexonicDe novoframeshift deletionNM_014484c.72delGp.L24fs--Feliciano2019 E
NR4A2     SP0041645chr2:
157186006-157186007		GCGexonicDe novoframeshift deletionNM_006186c.692delGp.G231fs--Feliciano2019 E
POGZ     SP0042394chr1:
151378053-151378055		CCTCexonicDe novoframeshift deletionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.3171_3172del
c.3297_3298del
c.3270_3271del
c.3429_3430del
c.3456_3457del		p.T1057fs
p.T1099fs
p.T1090fs
p.T1143fs
p.T1152fs		--Feliciano2019 E
BRSK2     SP0042217chr11:
1466523-1466523		GAsplicingDe novosplicing12.1-Feliciano2019 E
CREBBP     SP0020403chr16:
3820881-3820881		GAexonicDe novononsynonymous SNVNM_001079846
NM_004380		c.C2456T
c.C2570T		p.P819L
p.P857L		21.18.24E-6Feliciano2019 E
RNF220     SP0026093chr1:
45101709-45101709		GAexonicDe novononsynonymous SNVNM_018150c.G1001Ap.G334D20.78.239E-6Feliciano2019 E
ADAMTS19     SP0024711chr5:
129015502-129015502		TCexonicDe novononsynonymous SNVNM_133638c.T2534Cp.I845T20.48.245E-6Feliciano2019 E
ITSN1     SP0007556chr21:
35258603-35258603		CTexonicDe novononsynonymous SNVNM_003024c.C4856Tp.P1619L27.98.243E-6Feliciano2019 E
TNFRSF8     SP0028519chr1:
12183819-12183819		CTexonicDe novononsynonymous SNVNM_001281430
NM_001243		c.C755T
c.C1088T		p.T252M
p.T363M		14.54-Feliciano2019 E
CNDP1     SP0045640chr18:
72244102-72244102		ACsplicingDe novosplicing9.49-Feliciano2019 E
SRGAP3     SP0001367chr3:
9055457-9055457		AGexonicDe novononsynonymous SNVNM_001033117
NM_014850		c.T1811C
c.T1883C		p.I604T
p.I628T		17.128.237E-6Feliciano2019 E
SPTBN4     SP0003228chr19:
41060209-41060209		GAexonicDe novononsynonymous SNVNM_025213
NM_020971		c.G859A
c.G4831A		p.E287K
p.E1611K		11.71-Feliciano2019 E
STK10     SP0015507chr5:
171520738-171520738		CTexonicDe novononsynonymous SNVNM_005990c.G1232Ap.R411Q11.968.267E-6Feliciano2019 E
HSF2BP     SP0006651chr21:
45050296-45050296		TCexonicDe novononsynonymous SNVNM_007031c.A481Gp.M161V13.498.266E-6Feliciano2019 E
EHBP1     SP0001272chr2:
63176110-63176110		GAexonicDe novononsynonymous SNVNM_001142614
NM_001142615
NM_001142616
NM_015252		c.G2129A
c.G2129A
c.G2129A
c.G2234A		p.C710Y
p.C710Y
p.C710Y
p.C745Y		1.1728.287E-6Feliciano2019 E
LAMA3     SP0004280chr18:
21331038-21331038		AGexonicDe novononsynonymous SNVNM_001127717
NM_001302996
NM_198129		c.A841G
c.A841G
c.A841G		p.T281A
p.T281A
p.T281A		24.48.281E-6Feliciano2019 E
ZSCAN32     SP0021852chr16:
3433002-3433002		GTexonicDe novononsynonymous SNVNM_001284529
NM_001284528
NM_017810
NM_001284527		c.C1077A
c.C1077A
c.C1308A
c.C1944A		p.F359L
p.F359L
p.F436L
p.F648L		0.5888.249E-6Feliciano2019 E
SLC26A5     SP0017106chr7:
103014907-103014907		GAexonicDe novononsynonymous SNVNM_001167962
NM_198999		c.C2078T
c.C2174T		p.S693L
p.S725L		12.298.247E-6Feliciano2019 E
TMEM175     SP0022437chr4:
946213-946213		GTexonicDe novononsynonymous SNVNM_001297424
NM_001297425
NM_001297428
NM_001297423
NM_001297427
NM_032326
NM_001297426		c.G191T
c.G191T
c.G89T
c.G191T
c.G89T
c.G437T
c.G89T		p.C64F
p.C64F
p.C30F
p.C64F
p.C30F
p.C146F
p.C30F		15.798.256E-6Feliciano2019 E
DOCK8     SP0018345chr9:
368183-368183		CGintronicDe novo9.9068.256E-6Feliciano2019 E
ATP8B3     SP0014959chr19:
1807172-1807172		CTexonicDe novononsynonymous SNVNM_001178002
NM_138813		c.G451A
c.G610A		p.D151N
p.D204N		17.668.358E-6Feliciano2019 E
STXBP2     SP0034444chr19:
7709578-7709578		GAexonicDe novononsynonymous SNVNM_001127396
NM_001272034
NM_006949		c.G1177A
c.G1219A
c.G1186A		p.A393T
p.A407T
p.A396T		4.8578.358E-6Feliciano2019 E
CDH24     SP0001494chr14:
23524818-23524818		GAexonicDe novononsynonymous SNVNM_022478
NM_144985		c.C125T
c.C125T		p.T42I
p.T42I		7.1488.566E-6Feliciano2019 E
CORO2B     SP0028603chr15:
69011138-69011138		GAexonicDe novononsynonymous SNVNM_001190456
NM_001190457
NM_006091		c.G1054A
c.G1054A
c.G1069A		p.V352M
p.V352M
p.V357M		25.28.437E-6Feliciano2019 E
PGLYRP2     SP0026334chr19:
15586538-15586538		GAexonicDe novononsynonymous SNVNM_052890c.C943Tp.R315C16.48.298E-6Feliciano2019 E
TCHH     SP0000607chr1:
152084291-152084291		CTexonicDe novononsynonymous SNVNM_007113c.G1402Ap.E468K5.5398.288E-6Feliciano2019 E
FLII     SP0026711chr17:
18155412-18155412		CTexonicDe novononsynonymous SNVNM_001256265
NM_001256264
NM_002018		c.G985A
c.G1114A
c.G1147A		p.A329T
p.A372T
p.A383T		6.0828.331E-6Feliciano2019 E
HIST1H4H     SP0028464chr6:
26285687-26285687		CGexonicDe novononsynonymous SNVNM_003543c.G41Cp.G14A17.878.314E-6Feliciano2019 E
PPP2R5C     SP0001272chr14:
102323179-102323179		GAexonicDe novononsynonymous SNVNM_002719
NM_178586
NM_178587
NM_001161725
NM_001161726		c.G251A
c.G251A
c.G251A
c.G344A
c.G416A		p.R84Q
p.R84Q
p.R84Q
p.R115Q
p.R139Q		26.21.647E-5Feliciano2019 E
VEGFB     SP0017274chr11:
64003410-64003410		CTexonicDe novononsynonymous SNVNM_001243733
NM_003377		c.C229T
c.C229T		p.R77C
p.R77C		18.669.626E-6Feliciano2019 E
NALCN     SP0011385chr13:
101763488-101763488		CTexonicDe novononsynonymous SNVNM_052867c.G2282Ap.R761H29.21.649E-5Feliciano2019 E
NEK10     SP0009898chr3:
27161295-27161295		TCexonicDe novononsynonymous SNVNM_001031741
NM_001304384
NM_152534		c.A1223G
c.A1253G
c.A3317G		p.H408R
p.H418R
p.H1106R		2.9351.649E-5Feliciano2019 E
UBAP2     SP0007188chr9:
33922728-33922728		GAexonicDe novononsynonymous SNVNM_001282530
NM_001282529
NM_018449		c.C938T
c.C2420T
c.C3221T		p.P313L
p.P807L
p.P1074L		17.729.058E-6Feliciano2019 E
CLIP2     SP0007102chr7:
73731910-73731910		CTexonicDe novononsynonymous SNVNM_003388
NM_032421		c.C34T
c.C34T		p.R12C
p.R12C		19.578.999E-6Feliciano2019 E
MEPCE     SP0033661chr7:
100028144-100028144		AGexonicDe novononsynonymous SNVNM_019606c.A503Gp.K168R21.79.39E-6Feliciano2019 E
KCNG3     SP0023136chr2:
42720400-42720400		CTexonicDe novononsynonymous SNVNM_133329
NM_172344		c.G242A
c.G242A		p.G81D
p.G81D		22.49.091E-6Feliciano2019 E
KDM2B     SP0029586chr12:
121881901-121881901		CTexonicDe novononsynonymous SNVNM_001005366
NM_032590		c.G2272A
c.G2365A		p.G758S
p.G789S		0.1141.658E-5Feliciano2019 E
KIF21B     SP0006651chr1:
200956014-200956014		GAexonicDe novononsynonymous SNVNM_001252100
NM_001252102
NM_001252103
NM_017596		c.C3647T
c.C3647T
c.C3647T
c.C3647T		p.P1216L
p.P1216L
p.P1216L
p.P1216L		23.21.657E-5Feliciano2019 E
TCHH     SP0011734chr1:
152082220-152082220		GTexonicDe novononsynonymous SNVNM_007113c.C3473Ap.P1158Q2.0751.661E-5Feliciano2019 E
NUPL2     SP0001571chr7:
23221735-23221735		CTexonicDe novononsynonymous SNVNM_007342c.C31Tp.R11W17.751.659E-5Feliciano2019 E
ITSN1     SP0005166chr21:
35144452-35144452		GAexonicDe novononsynonymous SNVNM_001001132
NM_003024		c.G1130A
c.G1130A		p.R377H
p.R377H		28.21.655E-5Feliciano2019 E
DAZAP1     SP0007121chr19:
1418211-1418211		CTexonicDe novononsynonymous SNVNM_018959
NM_170711		c.C79T
c.C79T		p.R27C
p.R27C		20.31.653E-5Feliciano2019 E
TTN     SP0020624chr2:
179425733-179425733		TGexonicDe novononsynonymous SNVNM_003319
NM_133432
NM_133437
NM_133378
NM_001256850
NM_001267550		c.A57931C
c.A58306C
c.A58507C
c.A77422C
c.A80203C
c.A85126C		p.K19311Q
p.K19436Q
p.K19503Q
p.K25808Q
p.K26735Q
p.K28376Q		13.371.657E-5Feliciano2019 E
SH3PXD2B     SP0001207chr5:
171765971-171765971		GAexonicDe novononsynonymous SNVNM_001017995c.C2138Tp.T713M1.9331.656E-5Feliciano2019 E
CBFA2T3     SP0003327chr16:
88951543-88951543		CTexonicDe novononsynonymous SNVNM_175931
NM_005187		c.G770A
c.G1028A		p.R257H
p.R343H		23.01.744E-5Feliciano2019 E
TRMT61A     SP0031073chr14:
103998955-103998955		GAexonicDe novononsynonymous SNVNM_152307c.G368Ap.R123H28.31.677E-5Feliciano2019 E
FLG     SP0033959chr1:
152281822-152281822		GAexonicDe novononsynonymous SNVNM_002016c.C5540Tp.T1847M5.8772.471E-5Feliciano2019 E
BTAF1     SP0032561chr10:
93744130-93744130		AGexonicDe novononsynonymous SNVNM_003972c.A2396Gp.N799S0.1761.913E-5Feliciano2019 E
PNMT     SP0020347chr17:
37824837-37824837		CTexonicDe novononsynonymous SNVNM_002686c.C109Tp.R37C26.41.663E-5Feliciano2019 E
FUT6     SP0023136chr19:
5832022-5832022		GAexonicDe novononsynonymous SNVNM_001040701
NM_000150		c.C557T
c.C557T		p.S186L
p.S186L		9.5061.661E-5Feliciano2019 E
SPEG     SP0040398chr2:
220354232-220354232		CTexonicDe novononsynonymous SNVNM_005876c.C8492Tp.A2831V7.1191.677E-5Feliciano2019 E
IGDCC4     SP0031728chr15:
65681184-65681184		GAexonicDe novononsynonymous SNVNM_020962c.C2669Tp.T890M18.071.669E-5Feliciano2019 E
ATP11A     SP0000406chr13:
113510373-113510373		CTexonicDe novononsynonymous SNVNM_015205
NM_032189		c.C2392T
c.C2392T		p.R798C
p.R798C		30.02.495E-5Feliciano2019 E
GALNT4     SP0031996chr12:
89916672-89916672		CTexonicDe novononsynonymous SNVNM_003774
NM_001199781
NM_001199782		c.G1655A
c.G1646A
c.G1139A		p.R552Q
p.R549Q
p.R380Q		22.12.487E-5Feliciano2019 E
WFDC3     SP0010944chr20:
44417584-44417584		CTexonicDe novononsynonymous SNVNM_080614c.G197Ap.R66Q6.2722.502E-5Feliciano2019 E
ITGB6     SP0000087chr2:
160994350-160994350		CTexonicDe novononsynonymous SNVNM_001282354
NM_001282388
NM_001282390
NM_000888
NM_001282355
NM_001282389
NM_001282353		c.G970A
c.G1129A
c.G841A
c.G1255A
c.G1255A
c.G1036A
c.G1255A		p.V324M
p.V377M
p.V281M
p.V419M
p.V419M
p.V346M
p.V419M		14.272.5E-5Feliciano2019 E
KLF5     SP0022669chr13:
73649881-73649881		GAexonicDe novononsynonymous SNVNM_001286818
NM_001730		c.G958A
c.G1231A		p.D320N
p.D411N		24.62.48E-5Feliciano2019 E
LAMA4     SP0043581chr6:
112462089-112462089		GAexonicDe novononsynonymous SNVNM_001105206
NM_001105207
NM_002290		c.C2849T
c.C2828T
c.C2828T		p.P950L
p.P943L
p.P943L		25.62.474E-5Feliciano2019 E
GLYCTK     SP0004721chr3:
52325056-52325056		GAexonicDe novononsynonymous SNVNM_001144951
NM_145262		c.G458A
c.G458A		p.R153Q
p.R153Q		9.5822.485E-5Feliciano2019 E
ZFYVE28     SP0014748chr4:
2321991-2321991		CTexonicDe novononsynonymous SNVNM_001172656
NM_001172659
NM_020972		c.G619A
c.G499A
c.G709A		p.V207M
p.V167M
p.V237M		26.92.481E-5Feliciano2019 E
ARHGAP22     SP0006823chr10:
49687793-49687793		GAexonicDe novononsynonymous SNVNM_001256026
NM_001256024
NM_001256025
NM_021226		c.C67T
c.C337T
c.C355T
c.C337T		p.R23W
p.R113W
p.R119W
p.R113W		14.83.175E-5Feliciano2019 E
ASB12     SP0037814chrX:
63445299-63445299		GAexonicDe novononsynonymous SNVNM_130388c.C232Tp.R78C20.12.861E-5Feliciano2019 E
ATN1     SP0012230chr12:
7044900-7044900		GAexonicDe novononsynonymous SNVNM_001007026
NM_001940		c.G470A
c.G470A		p.R157H
p.R157H		14.233.296E-5Feliciano2019 E
CHD3     SP0000124chr17:
7798772-7798772		GAexonicDe novononsynonymous SNVNM_001005271
NM_001005273
NM_005852		c.G1796A
c.G1619A
c.G1619A		p.R599H
p.R540H
p.R540H		14.23.295E-5Feliciano2019 E
CBFA2T3     SP0001491chr16:
88958738-88958738		GAexonicDe novononsynonymous SNVNM_175931
NM_005187		c.C277T
c.C535T		p.R93C
p.R179C		17.562.537E-5Feliciano2019 E
CELSR3     SP0004355chr3:
48680211-48680211		CTexonicDe novononsynonymous SNVNM_001407c.G8513Ap.R2838Q23.72.513E-5Feliciano2019 E
HUWE1     SP0034740chrX:
53574886-53574886		TCexonicDe novononsynonymous SNVNM_031407c.A10384Gp.I3462V13.782.612E-5Feliciano2019 E
AMPD2     SP0042217chr1:
110167952-110167952		CTexonicMosaic, De novononsynonymous SNVNM_004037
NM_139156
NM_001257360		c.C281T
c.C38T
c.C281T		p.P94L
p.P13L
p.P94L		21.32.538E-5Feliciano2019 E
Feliciano2019 E
WRN     SP0036741chr8:
31030593-31030593		CTexonicDe novononsynonymous SNVNM_000553c.C4274Tp.T1425M9.3823.333E-5Feliciano2019 E
MYO15A     SP0019630chr17:
18039887-18039887		GAexonicDe novononsynonymous SNVNM_016239c.G4666Ap.A1556T28.33.322E-5Feliciano2019 E
CERS4     SP0029048chr19:
8321590-8321590		GAexonicDe novononsynonymous SNVNM_024552c.G608Ap.R203H29.33.346E-5Feliciano2019 E
POLH     SP0018718chr6:
43550770-43550770		GAexonicDe novononsynonymous SNVNM_001291969
NM_001291970
NM_006502		c.G10A
c.G164A
c.G164A		p.V4M
p.R55H
p.R55H		36.03.336E-5Feliciano2019 E
CELSR2     SP0041645chr1:
109813168-109813168		GAexonicDe novononsynonymous SNVNM_001408c.G7429Ap.G2477S22.63.302E-5Feliciano2019 E
CYP17A1     SP0042217chr10:
104596833-104596833		GAexonicDe novononsynonymous SNVNM_000102c.C286Tp.R96W15.923.297E-5Feliciano2019 E
DTD1     SP0003070chr20:
18576856-18576856		GAexonicDe novononsynonymous SNVNM_080820c.G341Ap.R114H24.93.318E-5Feliciano2019 E
LHX4     SP0010732chr1:
180235688-180235688		GAexonicDe novononsynonymous SNVNM_033343c.G410Ap.R137Q17.693.316E-5Feliciano2019 E
KDM1B     SP0001207chr6:
18218108-18218108		GAexonicDe novononsynonymous SNVNM_153042c.G1681Ap.A561T23.14.122E-5Feliciano2019 E
TXN2     SP0037695chr22:
36876736-36876736		CTexonicDe novononsynonymous SNVNM_012473c.G149Ap.R50Q16.644.118E-5Feliciano2019 E
NADSYN1     SP0036859chr11:
71193918-71193918		CTexonicDe novononsynonymous SNVNM_018161c.C1174Tp.R392C18.34.138E-5Feliciano2019 E
CALD1     SP0022099chr7:
134645308-134645308		GAexonicDe novononsynonymous SNVNM_033140
NM_033139
NM_004342
NM_033138
NM_033157		c.G1441A
c.G1519A
c.G1459A
c.G2224A
c.G1534A		p.V481I
p.V507I
p.V487I
p.V742I
p.V512I		30.04.122E-5Feliciano2019 E
PABPN1L     SP0023723chr16:
88931278-88931278		GAexonicDe novononsynonymous SNVNM_001080487c.C637Tp.R213W12.923.432E-5Feliciano2019 E
RNH1     SP0000626chr11:
497980-497980		CTexonicDe novononsynonymous SNVNM_203384
NM_203385
NM_203388
NM_203389
NM_002939
NM_203383
NM_203386
NM_203387		c.G1118A
c.G1118A
c.G1118A
c.G1118A
c.G1118A
c.G1118A
c.G1118A
c.G1118A		p.R373Q
p.R373Q
p.R373Q
p.R373Q
p.R373Q
p.R373Q
p.R373Q
p.R373Q		6.3983.361E-5Feliciano2019 E
PRLH     SP0004355chr2:
238475287-238475287		GAexonicDe novononsynonymous SNVNM_015893c.G71Ap.R24H4.5883.61E-5Feliciano2019 E
APC2     SP0019700chr19:
1460797-1460797		CTexonicMosaic, De novononsynonymous SNVNM_005883c.C1462Tp.R488C17.823.44E-5Feliciano2019 E
Feliciano2019 E
PRAM1     SP0011385chr19:
8563155-8563155		GAexonicDe novononsynonymous SNVNM_032152c.C1451Tp.S484L16.184.904E-5Feliciano2019 E
HSPBP1     SP0035025chr19:
55789166-55789166		GAexonicDe novononsynonymous SNVNM_001297600
NM_012267
NM_001130106		c.C397T
c.C259T
c.C259T		p.R133W
p.R87W
p.R87W		19.284.889E-5Feliciano2019 E
PRG4     SP0006667chr1:
186281999-186281999		GAexonicDe novononsynonymous SNVNM_001127710
NM_001127709
NM_001127708
NM_001303232
NM_005807		c.G3688A
c.G3811A
c.G3967A
c.G3961A
c.G4090A		p.G1230S
p.G1271S
p.G1323S
p.G1321S
p.G1364S		19.894.946E-5Feliciano2019 E
FER1L6     SP0001491chr8:
125094635-125094635		GAexonicDe novononsynonymous SNVNM_001039112c.G4327Ap.D1443N35.04.944E-5Feliciano2019 E
SERPINB7     SP0001995chr18:
61471670-61471670		GAexonicDe novononsynonymous SNVNM_001261831
NM_001040147
NM_001261830
NM_003784		c.G893A
c.G944A
c.G944A
c.G944A		p.R298H
p.R315H
p.R315H
p.R315H		14.64.143E-5Feliciano2019 E
SLC26A4     SP0000972chr7:
107323684-107323684		AGexonicDe novononsynonymous SNVNM_000441c.A803Gp.N268S23.84.139E-5Feliciano2019 E
HS6ST1     SP0002974chr2:
129025783-129025783		GAexonicDe novononsynonymous SNVNM_004807c.C1189Tp.R397C15.744.633E-5Feliciano2019 E
PTPRU     SP0036288chr1:
29631340-29631340		CTexonicDe novononsynonymous SNVNM_001195001
NM_133177
NM_133178
NM_005704		c.C2722T
c.C2722T
c.C2722T
c.C2752T		p.R908W
p.R908W
p.R908W
p.R918W		19.64.272E-5Feliciano2019 E
MOB3B     SP0037814chr9:
27455451-27455451		CTexonicDe novononsynonymous SNVNM_024761c.G98Ap.R33Q14.296.59E-5Feliciano2019 E
ZP3     SP0003489chr7:
76054396-76054396		GAexonicDe novononsynonymous SNVNM_001110354c.G115Ap.V39I8.1296.351E-5Feliciano2019 E
PAMR1     SP0015379chr11:
35492253-35492253		CTexonicDe novononsynonymous SNVNM_001001991
NM_015430
NM_001282675		c.G608A
c.G608A
c.G488A		p.R203Q
p.R203Q
p.R163Q		19.776.591E-5Feliciano2019 E
HSD17B2     SP0038333chr16:
82101832-82101832		CTexonicDe novononsynonymous SNVNM_002153c.C323Tp.T108M11.376.59E-5Feliciano2019 E
PLEKHM1     SP0010944chr17:
43531356-43531356		CTexonicDe novononsynonymous SNVNM_014798c.G1862Ap.R621Q10.835.041E-5Feliciano2019 E
NAGLU     SP0018069chr17:
40689451-40689451		AGexonicDe novononsynonymous SNVNM_000263c.A419Gp.Y140C25.44.947E-5Feliciano2019 E
CUL7     SP0046673chr6:
43020439-43020439		CTexonicDe novononsynonymous SNVNM_001168370
NM_014780		c.G244A
c.G88A		p.V82M
p.V30M		20.45.814E-5Feliciano2019 E
TBC1D10B     SP0023444chr16:
30370100-30370100		GAexonicDe novononsynonymous SNVNM_015527c.C1681Tp.R561C17.055.637E-5Feliciano2019 E
POTEC     SP0042592chr18:
14522353-14522353		CTexonicDe novononsynonymous SNVNM_001137671c.G1309Ap.A437T5.1551.0E-4Feliciano2019 E
HAUS6     SP0024794chr9:
19080631-19080631		GAexonicDe novononsynonymous SNVNM_001270890
NM_017645		c.C910T
c.C910T		p.L304F
p.L304F		17.771.0E-4Feliciano2019 E
CNTRL     SP0031728chr9:
123935966-123935966		GAexonicDe novononsynonymous SNVNM_007018c.G6698Ap.R2233H15.831.0E-4Feliciano2019 E
TIPARP     SP0016887chr3:
156422507-156422507		CTexonicDe novononsynonymous SNVNM_001184717
NM_001184718
NM_015508		c.C1561T
c.C1561T
c.C1561T		p.R521C
p.R521C
p.R521C		15.921.0E-4Feliciano2019 E
AP5Z1     SP0028260chr7:
4825249-4825249		CTexonicDe novononsynonymous SNVNM_014855c.C1066Tp.R356W14.537.278E-5Feliciano2019 E
ECT2L     SP0039355chr6:
139175261-139175261		GAexonicDe novononsynonymous SNVNM_001195037
NM_001077706		c.G1168A
c.G1168A		p.V390M
p.V390M		15.726.642E-5Feliciano2019 E
UTP11     SP0036966chr1:
38483420-38483420		AGexonicDe novononsynonymous SNVNM_016037c.A206Gp.K69R13.319.923E-5Feliciano2019 E
SERPINA5     SP0046854chr14:
95053760-95053760		CTexonicDe novononsynonymous SNVNM_000624c.C61Tp.R21C13.268.32E-5Feliciano2019 E
TUB     SP0018345chr11:
8111646-8111646		ACexonicDe novononsynonymous SNVNM_177972
NM_003320		c.A121C
c.A286C		p.K41Q
p.K96Q		27.43.0E-4Feliciano2019 E
TREH     SP0001365chr11:
118530506-118530506		CTexonicDe novounknown12.343.0E-4Feliciano2019 E
TEDC1     SP0041178chr14:
105965066-105965066		CTexonicDe novononsynonymous SNVNM_001134876
NM_001134875
NM_001134877
NM_001198983		c.C965T
c.C1064T
c.C842T
c.C848T		p.P322L
p.P355L
p.P281L
p.P283L		9.4757.0E-4Feliciano2019 E
CPZ     SP0020948chr4:
8621112-8621112		GAexonicDe novononsynonymous SNVNM_003652
NM_001014447
NM_001014448		c.G1694A
c.G1727A
c.G1316A		p.R565H
p.R576H
p.R439H		33.04.0E-4Feliciano2019 E
PHF14     SP0001365chr7:
11030426-11030426		GAexonicDe novononsynonymous SNVNM_014660c.G997Ap.A333T13.292.0E-4Feliciano2019 E
LRP4     SP0032848chr11:
46880739-46880739		CTexonicDe novononsynonymous SNVNM_002334c.G5513Ap.R1838Q23.71.0E-4Feliciano2019 E
ARID1A     SP0034419chr1:
27023808-27023808		CTexonicDe novononsynonymous SNVNM_006015
NM_139135		c.C914T
c.C914T		p.A305V
p.A305V		14.03.0E-4Feliciano2019 E
ALS2CL     SP0000854chr3:
46728480-46728480		AGexonicDe novononsynonymous SNVNM_001190707
NM_147129		c.T527C
c.T527C		p.I176T
p.I176T		6.4563.0E-4Feliciano2019 E
ADCY10     SP0000665chr1:
167849419-167849419		TCexonicDe novononsynonymous SNVNM_001167749
NM_001297772
NM_018417		c.A691G
c.A874G
c.A1150G		p.I231V
p.I292V
p.I384V		9.994-Feliciano2019 E
ZIM2     SP0000404chr19:
57286414-57286414		TCexonicDe novononsynonymous SNVNM_015363
NM_001146326
NM_001146327		c.A1226G
c.A1226G
c.A1226G		p.E409G
p.E409G
p.E409G		10.37-Feliciano2019 E
SOCS7     SP0000978chr17:
36508386-36508386		CTexonicDe novononsynonymous SNVNM_014598c.C259Tp.P87S8.353-Feliciano2019 E
BARD1     SP0000759chr2:
215645715-215645715		TAexonicDe novononsynonymous SNVNM_001282543
NM_000465		c.A826T
c.A883T		p.N276Y
p.N295Y		18.53-Feliciano2019 E
CCL13     SP0000085chr17:
32683600-32683600		CGexo