2-190719754-C-T |
PMS1 |
c.1756C>T |
p.R586C |
Missense |
9/13 |
- |
5-150924780-G-A |
FAT2 |
c.5908C>T |
p.Q1970* |
Nonsense |
10/24 |
- |
7-105187463-C-T |
RINT1 |
c.622C>T |
p.H208Y |
Missense |
5/15 |
- |
13-32915201-G-A |
BRCA2 |
c.6709G>A |
p.D2237N |
Missense |
11/27 |
- |
X-63410775-G-A |
AMER1 |
c.2392C>T |
p.Q798* |
Nonsense |
2/2 |
- |
12-133257804-C-T |
POLE |
c.124G>A |
p.D42N |
Missense |
2/49 |
- |
19-11105504-G-T |
SMARCA4 |
c.1420G>T |
p.E474* |
Nonsense |
9/35 |
- |
X-76854916-C-T |
ATRX |
c.5920G>A |
p.G1974R |
Missense |
25/35 |
- |
19-11144050-G-T |
SMARCA4 |
c.3631G>T |
p.E1211* |
Nonsense |
26/35 |
- |
5-176707759-G-A |
NSD1 |
c.5816G>A |
p.R1939H |
Missense |
18/23 |
- |
12-404813-C-T |
KDM5A |
c.4381G>A |
p.E1461K |
Missense |
26/28 |
- |
12-58144527-C-A |
CDK4 |
c.544G>T |
p.A182S |
Missense |
5/8 |
- |
9-5054660-C-T |
JAK2 |
c.712C>T |
p.Q238* |
Nonsense |
7/25 |
- |
11-119156070-C-T |
CBL |
c.1735C>T |
p.P579S |
Missense |
11/16 |
- |
17-7579581-G-GC |
TP53 |
c.105dupG |
p.P36Afs*7 |
Frameshift |
4/11 |
- |
17-38792336-T-C |
SMARCE1 |
c.388A>G |
p.M130V |
Missense |
7/11 |
- |
12-115118778-G-A |
TBX3 |
c.563C>T |
p.P188L |
Missense |
2/7 |
- |
4-106157123-C-G |
TET2 |
c.2024C>G |
p.S675* |
Nonsense |
3/11 |
- |
13-26959350-G-A |
CDK8 |
c.517G>A |
p.D173N |
Missense |
6/13 |
- |
1-23235546-C-T |
EPHB2 |
c.2384C>T |
p.P795L |
Missense |
13/16 |
- |
4-187539870-C-T |
FAT1 |
c.7870G>A |
p.D2624N |
Missense |
10/27 |
- |
17-29508755-C-G |
NF1 |
c.682C>G |
p.P228A |
Missense |
7/58 |
- |
4-55603372-G-C |
KIT |
c.2728G>C |
p.D910H |
Missense |
20/21 |
- |
2-47639691-G-A |
MSH2 |
c.784G>A |
p.E262K |
Missense |
4/16 |
- |
10-43612052-C-G |
RET |
c.2157C>G |
p.F719L |
Missense |
12/20 |
- |
17-7578521-GT-G |
TP53 |
c.408delA |
p.Q136Hfs*34 |
Frameshift |
5/11 |
- |
22-29106013-A-C |
CHEK2 |
c.827T>G |
p.I276S |
Missense |
7/15 |
- |
1-27023957-C-T |
ARID1A |
c.1063C>T |
p.Q355* |
Nonsense |
1/20 |
- |
19-19256623-C-T |
MEF2B |
c.1090G>A |
p.D364N |
Missense |
9/9 |
- |
7-86416228-G-C |
GRM3 |
c.1120G>C |
p.D374H |
Missense |
3/6 |
- |
13-32906448-G-A |
BRCA2 |
c.833G>A |
p.S278N |
Missense |
10/27 |
- |
2-141274473-C-T |
LRP1B |
c.8134G>A |
p.D2712N |
Missense |
50/91 |
- |
14-95562404-G-A |
DICER1 |
c.4853C>T |
p.S1618L |
Missense |
23/27 |
- |
16-9923482-C-A |
GRIN2A |
c.1805G>T |
p.G602V |
Missense |
9/13 |
- |
13-32913395-T-A |
BRCA2 |
c.4903T>A |
p.L1635M |
Missense |
11/27 |
- |
2-225422482-C-T |
CUL3 |
c.158G>A |
p.S53N |
Missense |
2/16 |
- |
3-142275310-C-T |
ATR |
c.1993G>A |
p.E665K |
Missense |
9/47 |
- |
9-139413912-C-A |
NOTCH1 |
c.848G>T |
p.C283F |
Missense |
5/34 |
- |
7-128850837-C-T |
SMO |
c.1684C>T |
p.R562W |
Missense |
10/12 |
- |
7-128845587-G-A |
SMO |
c.884G>A |
p.C295Y |
Missense |
4/12 |
- |
17-41245839-G-C |
BRCA1 |
c.1709C>G |
p.P570R |
Missense |
10/23 |
- |
2-225379401-C-A |
CUL3 |
c.467G>T |
p.C156F |
Missense |
4/16 |
- |
8-118834821-T-A |
EXT1 |
c.1300A>T |
p.I434L |
Missense |
5/11 |
- |
17-41244742-C-A |
BRCA1 |
c.2806G>T |
p.D936Y |
Missense |
10/23 |
- |
3-41267306-C-T |
CTNNB1 |
c.890C>T |
p.T297M |
Missense |
6/15 |
- |
17-41247885-G-C |
BRCA1 |
c.648C>G |
p.I216M |
Missense |
9/23 |
- |
9-139400074-C-T |
NOTCH1 |
c.4274G>A |
p.C1425Y |
Missense |
25/34 |
- |
17-45369824-G-T |
ITGB3 |
c.1580G>T |
p.C527F |
Missense |
10/15 |
- |
5-150946836-G-A |
FAT2 |
c.1657C>T |
p.Q553* |
Nonsense |
2/24 |
- |
2-141093220-C-A |
LRP1B |
c.12080G>T |
p.G4027V |
Missense |
78/91 |
- |
3-142274812-G-C |
ATR |
c.2248C>G |
p.Q750E |
Missense |
10/47 |
- |
X-76939304-C-A |
ATRX |
c.1444G>T |
p.E482* |
Nonsense |
9/35 |
- |
16-23641722-C-T |
PALB2 |
c.1753G>A |
p.D585N |
Missense |
5/13 |
- |
11-108150279-C-T |
ATM |
c.3346C>T |
p.Q1116* |
Nonsense |
23/63 |
- |
19-50919923-G-T |
POLD1 |
c.3010G>T |
p.A1004S |
Missense |
24/27 |
- |
1-78429845-C-T |
FUBP1 |
c.943G>A |
p.D315N |
Missense |
12/20 |
- |
9-139412645-C-T |
NOTCH1 |
c.1199G>A |
p.C400Y |
Missense |
7/34 |
- |
11-124749208-C-A |
ROBO3 |
c.3656C>A |
p.P1219H |
Missense |
24/28 |
- |
13-110437088-G-C |
IRS2 |
c.1313C>G |
p.S438W |
Missense |
1/2 |
- |
1-43812186-C-T |
MPL |
c.1051C>T |
p.R351C |
Missense |
7/12 |
- |
18-45422975-C-G |
SMAD2 |
c.153G>C |
p.K51N |
Missense |
2/11 |
- |
8-38271675-G-T |
FGFR1 |
c.2181C>A |
p.N727K |
Missense |
16/18 |
- |
16-23640960-C-A |
PALB2 |
c.2514+1G>T |
- |
IntronicSNV |
- |
5/12 |
14-65544623-GTGCTCACC-G |
MAX |
c.295_295+7delGGTGAGCA |
- |
SpliceDonorDeletion |
4/5 |
4/4 |
9-139393350-C-G |
NOTCH1 |
c.6180+1G>C |
- |
IntronicSNV |
- |
33/33 |
22-41564872-G-A |
EP300 |
c.4172+1G>A |
- |
IntronicSNV |
- |
25/30 |
9-139412203-C-A |
NOTCH1 |
c.1441+1G>T |
- |
IntronicSNV |
- |
8/33 |
1-162743387-G-A |
DDR2 |
c.1856+1G>A |
- |
IntronicSNV |
- |
14/17 |
2-225422374-A-G |
CUL3 |
c.264+2T>C |
- |
IntronicSNV |
- |
2/15 |
16-89816137-C-T |
FANCA |
c.3239+1G>A |
- |
IntronicSNV |
- |
32/42 |
9-139396452-C-T |
NOTCH1 |
c.5472+1G>A |
- |
IntronicSNV |
- |
29/33 |
7-116413069-T-C |
MET |
c.3028+1026T>C |
- |
IntronicSNV |
- |
14/20 |
7-116412715-G-A |
MET |
c.3028+672G>A |
- |
IntronicSNV |
- |
14/20 |
2-47707949-G-A |
MSH2 |
c.2573G>A |
p.G858E |
Missense |
15/16 |
- |
7-151859516-C-G |
KMT2C |
c.11146G>C |
p.E3716Q |
Missense |
43/59 |
- |
9-101585547-G-T |
GALNT12 |
c.381G>T |
p.E127D |
Missense |
2/10 |
- |
3-134670281-C-G |
EPHB1 |
c.192C>G |
p.F64L |
Missense |
3/16 |
- |
17-59793338-G-T |
BRIP1 |
c.2466C>A |
p.Y822* |
Nonsense |
17/20 |
- |
19-38976585-G-A |
RYR1 |
c.5290G>A |
p.G1764R |
Missense |
34/106 |
- |
16-3779311-G-T |
CREBBP |
c.5737C>A |
p.P1913T |
Missense |
31/31 |
- |
5-180057673-C-A |
FLT4 |
c.282G>T |
p.K94N |
Missense |
3/30 |
- |
3-142274802-C-T |
ATR |
c.2258G>A |
p.C753Y |
Missense |
10/47 |
- |
7-128850882-C-T |
SMO |
c.1729C>T |
p.H577Y |
Missense |
10/12 |
- |
6-138195996-C-T |
TNFAIP3 |
c.310C>T |
p.L104F |
Missense |
3/9 |
- |
19-3121092-C-T |
GNA11 |
c.995C>T |
p.T332I |
Missense |
7/7 |
- |
X-76849283-G-A |
ATRX |
c.5993C>T |
p.A1998V |
Missense |
26/35 |
- |
2-212295717-T-C |
ERBB4 |
c.2596A>G |
p.R866G |
Missense |
21/28 |
- |
7-124475378-T-A |
POT1 |
c.1460A>T |
p.D487V |
Missense |
15/19 |
- |
3-52620463-T-G |
PBRM1 |
c.3290A>C |
p.E1097A |
Missense |
21/30 |
- |
14-81610060-C-T |
TSHR |
c.1658C>T |
p.A553V |
Missense |
10/10 |
- |
2-212285243-C-G |
ERBB4 |
c.3058G>C |
p.E1020Q |
Missense |
25/28 |
- |
20-56140727-G-A |
PCK1 |
c.1736G>A |
p.S579N |
Missense |
10/10 |
- |
6-161969962-C-A |
PRKN |
c.1007G>T |
p.G336V |
Missense |
9/12 |
- |
19-39018359-G-T |
RYR1 |
c.10759G>T |
p.D3587Y |
Missense |
73/106 |
- |
X-76939471-T-C |
ATRX |
c.1277A>G |
p.E426G |
Missense |
9/35 |
- |
19-39003123-C-T |
RYR1 |
c.9472C>T |
p.L3158= |
Synonymous |
63/106 |
- |
5-56168534-C-G |
MAP3K1 |
c.1490C>G |
p.S497C |
Missense |
8/20 |
- |
5-149497317-G-C |
PDGFRB |
c.3001C>G |
p.P1001A |
Missense |
22/23 |
- |
19-11138522-G-T |
SMARCA4 |
c.3278G>T |
p.R1093L |
Missense |
24/35 |
- |
19-18273048-C-T |
PIK3R2 |
c.938C>T |
p.S313F |
Missense |
8/16 |
- |
3-10140451-G-C |
FANCD2 |
c.4233G>C |
p.E1411D |
Missense |
43/44 |
- |
17-8110112-C-A |
AURKB |
c.493G>T |
p.E165* |
Nonsense |
6/9 |
- |
9-8319833-C-T |
PTPRD |
c.5668G>A |
p.E1890K |
Missense |
45/46 |
- |
17-11998919-G-C |
MAP2K4 |
c.421G>C |
p.E141Q |
Missense |
4/11 |
- |
11-1251811-G-T |
MUC5B |
c.1451G>T |
p.S484I |
Missense |
12/49 |
- |
19-52723445-G-T |
PPP2R1A |
c.1306G>T |
p.V436L |
Missense |
11/15 |
- |
4-187540116-T-C |
FAT1 |
c.7624A>G |
p.I2542V |
Missense |
10/27 |
- |
X-76812933-T-C |
ATRX |
c.6688A>G |
p.M2230V |
Missense |
30/35 |
- |
3-142231159-G-C |
ATR |
c.4795C>G |
p.L1599V |
Missense |
27/47 |
- |
5-1280423-C-G |
TERT |
c.1800G>C |
p.E600D |
Missense |
4/16 |
- |
5-1280423-C-A |
TERT |
c.1800G>T |
p.E600D |
Missense |
4/16 |
- |
9-8339011-C-T |
PTPRD |
c.5290G>A |
p.A1764T |
Missense |
43/46 |
- |
3-85961615-G-T |
CADM2 |
c.622G>T |
p.V208L |
Missense |
6/10 |
- |
5-150923429-G-A |
FAT2 |
c.7259C>T |
p.S2420F |
Missense |
10/24 |
- |
1-113456527-C-T |
SLC16A1 |
c.1489G>A |
p.E497K |
Missense |
5/5 |
- |
5-56111669-C-T |
MAP3K1 |
c.269C>T |
p.S90F |
Missense |
1/20 |
- |
17-70119833-A-C |
SOX9 |
c.835A>C |
p.S279R |
Missense |
3/3 |
- |
14-81610529-G-C |
TSHR |
c.2127G>C |
p.Q709H |
Missense |
10/10 |
- |
7-55249087-C-A |
EGFR |
c.2385C>A |
p.F795L |
Missense |
20/28 |
- |
8-90993664-A-G |
NBN |
c.259T>C |
p.F87L |
Missense |
3/16 |
- |
2-46603826-G-C |
EPAS1 |
c.1183G>C |
p.E395Q |
Missense |
9/16 |
- |
16-16142076-G-C |
ABCC1 |
c.1296G>C |
p.Q432H |
Missense |
10/31 |
- |
1-19062279-C-T |
PAX7 |
c.1309C>T |
p.P437S |
Missense |
8/9 |
- |
5-149511558-G-T |
PDGFRB |
c.1227C>A |
p.F409L |
Missense |
8/23 |
- |
5-79965940-C-G |
MSH3 |
c.604C>G |
p.Q202E |
Missense |
4/24 |
- |
13-110434817-C-T |
IRS2 |
c.3584G>A |
p.G1195E |
Missense |
1/2 |
- |
X-1321321-T-A |
CRLF2 |
c.434A>T |
p.D145V |
Missense |
4/8 |
- |
1-182544612-T-C |
RNASEL |
c.2141A>G |
p.K714R |
Missense |
7/7 |
- |
11-55135882-G-T |
OR4A15 |
c.523G>T |
p.A175S |
Missense |
1/1 |
- |
4-187541873-T-A |
FAT1 |
c.5867A>T |
p.D1956V |
Missense |
10/27 |
- |
2-141200075-C-T |
LRP1B |
c.10412G>A |
p.C3471Y |
Missense |
66/91 |
- |
19-41743993-G-A |
AXL |
c.928G>A |
p.A310T |
Missense |
7/20 |
- |
19-41727854-G-T |
AXL |
c.479G>T |
p.C160F |
Missense |
4/20 |
- |
17-38792297-T-C |
SMARCE1 |
c.427A>G |
p.I143V |
Missense |
7/11 |
- |
19-17945802-G-T |
JAK3 |
c.2058C>A |
p.D686E |
Missense |
16/24 |
- |
10-98156987-C-T |
TLL2 |
c.1340G>A |
p.S447N |
Missense |
11/21 |
- |
4-55948708-G-A |
KDR |
c.3757C>T |
p.P1253S |
Missense |
28/30 |
- |
5-150924657-T-C |
FAT2 |
c.6031A>G |
p.M2011V |
Missense |
10/24 |
- |
11-118343552-T-C |
KMT2A |
c.1678T>C |
p.S560P |
Missense |
3/36 |
- |
16-89846329-T-A |
FANCA |
c.1663A>T |
p.I555F |
Missense |
18/43 |
- |
5-80109463-A-T |
MSH3 |
c.2716A>T |
p.I906L |
Missense |
20/24 |
- |
11-102100519-C-G |
YAP1 |
c.1363C>G |
p.L455V |
Missense |
9/9 |
- |
3-121350742-T-C |
HCLS1 |
c.1412A>G |
p.H471R |
Missense |
14/14 |
- |
4-187524768-T-A |
FAT1 |
c.10912A>T |
p.M3638L |
Missense |
19/27 |
- |
8-119122705-T-A |
EXT1 |
c.581A>T |
p.N194I |
Missense |
1/11 |
- |
9-21971110-GTGC-G |
CDKN2A |
c.246_248delGCA |
p.H83del |
InFrameDeletion |
2/3 |
- |
2-178098969-TGCCTCCAAAGTA-T |
NFE2L2 |
c.65_76del12 |
p.I22_Q26delinsK |
MultiAAMissense |
2/5 |
- |
16-72993566-C-A |
ZFHX3 |
c.479G>T |
p.G160V |
Missense |
2/10 |
- |
9-87563525-A-C |
NTRK2 |
c.1913A>C |
p.H638P |
Missense |
16/19 |
- |
9-139393400-G-T |
NOTCH1 |
c.6131C>A |
p.A2044E |
Missense |
33/34 |
- |
4-84383641-G-A |
ABRAXAS1 |
c.1211C>T |
p.S404L |
Missense |
9/9 |
- |
13-49054172-G-A |
RB1 |
c.2752G>A |
p.D918N |
Missense |
27/27 |
- |
3-142272737-C-T |
ATR |
c.2462G>A |
p.R821K |
Missense |
11/47 |
- |
2-191859791-G-A |
STAT1 |
c.940C>T |
p.Q314* |
Nonsense |
10/25 |
- |
X-63411576-G-C |
AMER1 |
c.1591C>G |
p.R531G |
Missense |
2/2 |
- |
7-86416139-A-G |
GRM3 |
c.1031A>G |
p.N344S |
Missense |
3/6 |
- |
20-54961571-C-A |
AURKA |
c.61G>T |
p.G21C |
Missense |
3/9 |
- |
5-138253519-A-C |
CTNNA1 |
c.1478A>C |
p.K493T |
Missense |
11/18 |
- |
7-26224262-T-C |
NFE2L3 |
c.944T>C |
p.L315P |
Missense |
4/4 |
- |
5-150924566-T-A |
FAT2 |
c.6122A>T |
p.E2041V |
Missense |
10/24 |
- |
14-95570111-C-A |
DICER1 |
c.3622G>T |
p.E1208* |
Nonsense |
21/27 |
- |
1-3644331-C-T |
TP73 |
c.982C>T |
p.R328C |
Missense |
8/14 |
- |
19-15291023-C-G |
NOTCH3 |
c.3187G>C |
p.D1063H |
Missense |
20/33 |
- |
2-141660628-A-T |
LRP1B |
c.3627T>A |
p.N1209K |
Missense |
23/91 |
- |
8-38283744-C-T |
FGFR1 |
c.641G>A |
p.S214N |
Missense |
6/18 |
- |
2-178098948-T-G |
NFE2L2 |
c.97A>C |
p.S33R |
Missense |
2/5 |
- |
9-139412314-T-C |
NOTCH1 |
c.1331A>G |
p.Y444C |
Missense |
8/34 |
- |
10-88635796-C-A |
BMPR1A |
c.21C>A |
p.Y7* |
Nonsense |
3/13 |
- |
5-180045784-G-A |
FLT4 |
c.2987C>T |
p.S996F |
Missense |
21/30 |
- |
X-63410384-G-A |
AMER1 |
c.2783C>T |
p.S928L |
Missense |
2/2 |
- |
6-108985540-G-T |
FOXO3 |
c.1504G>T |
p.A502S |
Missense |
2/3 |
- |
3-142243002-C-G |
ATR |
c.3985G>C |
p.E1329Q |
Missense |
22/47 |
- |
6-110778074-G-C |
SLC22A16 |
c.200C>G |
p.S67C |
Missense |
2/8 |
- |
1-158815398-C-T |
MNDA |
c.592C>T |
p.R198W |
Missense |
5/7 |
- |
1-11316126-C-T |
MTOR |
c.628G>A |
p.V210I |
Missense |
5/58 |
- |
13-110435892-C-T |
IRS2 |
c.2509G>A |
p.E837K |
Missense |
1/2 |
- |
1-201983085-G-A |
ELF3 |
c.934G>A |
p.A312T |
Missense |
8/9 |
- |
2-29917871-C-A |
ALK |
c.797G>T |
p.C266F |
Missense |
3/29 |
- |
2-178098923-TGACTGAAGTCAAATACTTCTC-T |
NFE2L2 |
c.101_121del21 |
p.R34_S40del |
InFrameDeletion |
2/5 |
- |
X-47032581-CG-TA |
RBM10 |
c.487_488delCGinsTA |
p.R163* |
Nonsense |
5/24 |
- |
3-49941008-A-G |
MST1R |
c.35T>C |
p.L12P |
Missense |
1/20 |
- |
1-27057934-C-A |
ARID1A |
c.1642C>A |
p.Q548K |
Missense |
3/20 |
- |
11-118344347-G-C |
KMT2A |
c.2473G>C |
p.E825Q |
Missense |
3/36 |
- |
1-157559112-C-T |
FCRL4 |
c.189G>A |
p.W63* |
Nonsense |
3/12 |
- |
12-133244193-C-G |
POLE |
c.2215G>C |
p.V739L |
Missense |
20/49 |
- |
16-3632483-C-T |
SLX4 |
c.5365G>A |
p.G1789S |
Missense |
15/15 |
- |
18-61310656-T-G |
SERPINB4 |
c.156A>C |
p.Q52H |
Missense |
2/8 |
- |
8-48744474-C-T |
PRKDC |
c.8165G>A |
p.R2721R |
Missense |
61/87 |
- |
19-18274113-C-G |
PIK3R2 |
c.1331C>G |
p.A444G |
Missense |
11/16 |
- |
2-141526854-G-T |
LRP1B |
c.5686C>A |
p.P1896T |
Missense |
35/91 |
- |
12-56481811-C-T |
ERBB3 |
c.739C>T |
p.R247W |
Missense |
7/28 |
- |
15-75705154-G-T |
SIN3A |
c.706C>A |
p.P236T |
Missense |
5/21 |
- |
20-56140480-T-G |
PCK1 |
c.1489T>G |
p.W497G |
Missense |
10/10 |
- |
9-139405641-A-T |
NOTCH1 |
c.2550T>A |
p.Y850* |
Nonsense |
16/34 |
- |
2-141027824-C-T |
LRP1B |
c.13234G>A |
p.V4412I |
Missense |
86/91 |
- |
2-141116504-A-T |
LRP1B |
c.11143T>A |
p.C3715S |
Missense |
73/91 |
- |
13-110435561-G-A |
IRS2 |
c.2840C>T |
p.S947L |
Missense |
1/2 |
- |
9-5054612-C-G |
JAK2 |
c.664C>G |
p.H222D |
Missense |
7/25 |
- |
17-59761484-C-T |
BRIP1 |
c.2923G>A |
p.E975K |
Missense |
20/20 |
- |
9-5029900-G-A |
JAK2 |
c.344G>A |
p.R115K |
Missense |
4/25 |
- |
5-150943192-G-A |
FAT2 |
c.3268C>T |
p.Q1090* |
Nonsense |
3/24 |
- |
1-162729727-C-G |
DDR2 |
c.813C>G |
p.I271M |
Missense |
8/18 |
- |
19-19627087-G-T |
NDUFA13 |
c.40G>T |
p.G14W |
Missense |
1/5 |
- |
4-106197188-G-C |
TET2 |
c.5521G>C |
p.E1841Q |
Missense |
11/11 |
- |
7-40027547-G-C |
CDK13 |
c.1561G>C |
p.E521Q |
Missense |
2/14 |
- |
6-27100520-G-C |
H2BC11 |
c.10C>G |
p.P4A |
Missense |
1/1 |
- |
16-72827349-G-C |
ZFHX3 |
c.9232C>G |
p.Q3078E |
Missense |
9/10 |
- |
17-29559842-C-G |
NF1 |
c.3439C>G |
p.L1147V |
Missense |
26/58 |
- |
5-150924752-T-A |
FAT2 |
c.5936A>T |
p.E1979V |
Missense |
10/24 |
- |
5-161128751-C-A |
GABRA6 |
c.1334C>A |
p.T445K |
Missense |
9/9 |
- |
10-8100286-CGCCTCT-C |
GATA3 |
c.263_268delCTCTGC |
p.P88_L89del |
InFrameDeletion |
3/6 |
- |
9-101611335-GGA-CGG |
GALNT12 |
c.1707_1709delinsCGG |
p.D570G |
Missense |
10/10 |
- |
9-21971005-GC-TT |
CDKN2A |
c.352_353delinsTT |
p.A118N |
Missense |
2/3 |
- |
16-14020564-G-A |
ERCC4 |
c.535G>A |
p.E179K |
Missense |
3/11 |
- |
9-101585594-C-A |
GALNT12 |
c.428C>A |
p.A143E |
Missense |
2/10 |
- |
8-145739707-C-G |
RECQL4 |
c.1744G>C |
p.E582Q |
Missense |
11/22 |
- |
6-26032111-C-A |
H3C2 |
c.178G>T |
p.E60* |
Nonsense |
1/1 |
- |
12-133240704-T-C |
POLE |
c.2592A>G |
p.I864M |
Missense |
23/49 |
- |
19-17952523-T-A |
JAK3 |
c.910A>T |
p.K304* |
Nonsense |
7/24 |
- |
9-8521429-A-G |
PTPRD |
c.809T>C |
p.M270T |
Missense |
20/46 |
- |
9-8633317-C-G |
PTPRD |
c.352G>C |
p.E118Q |
Missense |
14/46 |
- |
X-123220578-A-T |
STAG2 |
c.3235A>T |
p.T1079S |
Missense |
30/35 |
- |
X-70341505-A-T |
MED12 |
c.940A>T |
p.S314C |
Missense |
7/45 |
- |
12-130184695-C-A |
TMEM132D |
c.628G>T |
p.A210S |
Missense |
2/9 |
- |
X-123181224-T-G |
STAG2 |
c.688T>G |
p.L230V |
Missense |
9/35 |
- |
15-99251255-G-A |
IGF1R |
c.559G>A |
p.E187K |
Missense |
2/21 |
- |
5-176715911-G-T |
NSD1 |
c.6243G>T |
p.L2081F |
Missense |
21/23 |
- |
7-151833978-T-C |
KMT2C |
c.14675A>G |
p.D4892G |
Missense |
59/59 |
- |
9-139412594-G-T |
NOTCH1 |
c.1250C>A |
p.S417* |
Nonsense |
7/34 |
- |
19-15299065-G-T |
NOTCH3 |
c.1473C>A |
p.F491L |
Missense |
9/33 |
- |
9-139400106-G-C |
NOTCH1 |
c.4242C>G |
p.C1414W |
Missense |
25/34 |
- |
8-139144994-C-T |
FAM135B |
c.4063G>A |
p.E1355K |
Missense |
20/20 |
- |
X-70345563-G-A |
MED12 |
c.2422G>A |
p.G808S |
Missense |
17/45 |
- |
2-141214057-A-T |
LRP1B |
c.9930T>A |
p.N3310K |
Missense |
62/91 |
- |
17-37676279-G-A |
CDK12 |
c.3034G>A |
p.E1012K |
Missense |
11/14 |
- |
1-45295387-G-C |
PTCH2 |
c.982C>G |
p.L328V |
Missense |
8/22 |
- |
X-76938202-G-A |
ATRX |
c.2546C>T |
p.S849F |
Missense |
9/35 |
- |
15-101938686-C-G |
PCSK6 |
c.917G>C |
p.G306R |
Missense |
8/23 |
- |
16-23647615-G-C |
PALB2 |
c.252C>G |
p.I84M |
Missense |
4/13 |
- |
14-75514432-C-G |
MLH3 |
c.1927G>C |
p.G643R |
Missense |
2/13 |
- |
X-1540725-G-C |
ASMTL |
c.1071C>G |
p.N357K |
Missense |
9/13 |
- |
9-139391615-G-C |
NOTCH1 |
c.6576C>G |
p.D2192E |
Missense |
34/34 |
- |
7-151853332-C-A |
KMT2C |
c.11770G>T |
p.E3924* |
Nonsense |
45/59 |
- |
12-56495462-GA-AG |
ERBB3 |
c.3652_3653delinsAG |
p.E1218R |
Missense |
28/28 |
- |
19-50905061-CC-AG |
POLD1 |
c.343_344delinsAG |
p.P115S |
Missense |
4/27 |
- |
12-133212514-G-C |
POLE |
c.5775C>G |
p.I1925M |
Missense |
42/49 |
- |
1-45296645-A-C |
PTCH2 |
c.688T>G |
p.S230A |
Missense |
6/22 |
- |
22-29121040-C-A |
CHEK2 |
c.517G>T |
p.E173* |
Nonsense |
4/15 |
- |
15-99459957-G-T |
IGF1R |
c.2053G>T |
p.E685* |
Nonsense |
10/21 |
- |
11-32456678-C-T |
WT1 |
c.214G>A |
p.D77N |
Missense |
1/10 |
- |
16-72828093-G-A |
ZFHX3 |
c.8488C>T |
p.L2830= |
Synonymous |
9/10 |
- |
4-187517850-G-A |
FAT1 |
c.12844C>T |
p.P4282S |
Missense |
25/27 |
- |
6-32172148-C-A |
NOTCH4 |
c.2884G>T |
p.G962* |
Nonsense |
19/30 |
- |
16-72832508-G-C |
ZFHX3 |
c.4073C>G |
p.S1358* |
Nonsense |
9/10 |
- |
7-151859747-C-A |
KMT2C |
c.10915G>T |
p.E3639* |
Nonsense |
43/59 |
- |
9-87482239-C-A |
NTRK2 |
c.1526C>A |
p.S509Y |
Missense |
14/19 |
- |
22-41573738-C-G |
EP300 |
c.6023C>G |
p.S2008C |
Missense |
31/31 |
- |
12-432854-G-A |
KDM5A |
c.2062C>T |
p.L688F |
Missense |
15/28 |
- |
2-212248519-G-C |
ERBB4 |
c.3748C>G |
p.R1250G |
Missense |
28/28 |
- |
12-48367919-C-G |
COL2A1 |
c.4270G>C |
p.E1424Q |
Missense |
53/54 |
- |
22-41564566-G-C |
EP300 |
c.3988G>C |
p.D1330H |
Missense |
24/31 |
- |
11-69588836-G-A |
FGF4 |
c.400C>T |
p.R134W |
Missense |
2/3 |
- |
3-189612104-C-T |
TP63 |
c.1856C>T |
p.T619I |
Missense |
14/14 |
- |
3-89499354-C-G |
EPHA3 |
c.2524C>G |
p.R842G |
Missense |
15/17 |
- |
X-70352024-G-A |
MED12 |
c.4221G>A |
p.M1407I |
Missense |
30/45 |
- |
1-120510804-C-A |
NOTCH2 |
c.1160G>T |
p.G387V |
Missense |
7/34 |
- |
1-120467977-C-A |
NOTCH2 |
c.4462G>T |
p.E1488* |
Nonsense |
25/34 |
- |
7-81355310-C-G |
HGF |
c.1064G>C |
p.R355P |
Missense |
9/18 |
- |
19-18277103-A-C |
PIK3R2 |
c.1550A>C |
p.E517A |
Missense |
12/16 |
- |
X-63412484-T-G |
AMER1 |
c.683A>C |
p.N228T |
Missense |
2/2 |
- |
2-141625174-T-A |
LRP1B |
c.4564A>T |
p.S1522C |
Missense |
27/91 |
- |
19-19257412-G-T |
MEF2B |
c.721C>A |
p.P241T |
Missense |
7/9 |
- |
3-49924847-T-A |
MST1R |
c.4096A>T |
p.S1366C |
Missense |
20/20 |
- |
17-12011176-G-T |
MAP2K4 |
c.583G>T |
p.V195L |
Missense |
5/11 |
- |
19-15296472-T-C |
NOTCH3 |
c.1970A>G |
p.E657G |
Missense |
13/33 |
- |
8-128752819-C-G |
MYC |
c.980C>G |
p.P327R |
Missense |
3/3 |
- |
13-26923284-T-A |
CDK8 |
c.280T>A |
p.W94R |
Missense |
3/13 |
- |
1-179078228-C-G |
ABL2 |
c.2174G>C |
p.R725T |
Missense |
12/12 |
- |
5-150922182-G-A |
FAT2 |
c.8506C>T |
p.L2836= |
Synonymous |
10/24 |
- |
13-28931774-G-C |
FLT1 |
c.2165C>G |
p.T722R |
Missense |
15/30 |
- |
9-98224185-G-C |
PTCH1 |
c.2656C>G |
p.L886V |
Missense |
16/24 |
- |
6-27839793-G-C |
H3C11 |
c.301C>G |
p.L101V |
Missense |
1/1 |
- |
3-178742809-A-G |
ZMAT3 |
c.866T>C |
p.V289A |
Missense |
6/6 |
- |
5-35871166-G-C |
IL7R |
c.388G>C |
p.E130Q |
Missense |
4/8 |
- |
16-2122854-C-T |
TSC2 |
c.2225C>T |
p.S742L |
Missense |
21/42 |
- |
1-46724383-C-G |
RAD54L |
c.236C>G |
p.S79* |
Nonsense |
4/18 |
- |
5-150925787-T-C |
FAT2 |
c.4901A>G |
p.D1634G |
Missense |
10/24 |
- |
2-178098864-G-A |
NFE2L2 |
c.181C>T |
p.Q61* |
Nonsense |
2/5 |
- |
5-35871190-GTC-ATG |
IL7R |
c.412_414delinsATG |
p.V138M |
Missense |
4/8 |
- |
17-37883091-TC-AT |
ERBB2 |
c.2994_2995delinsAT |
p.S998_P999delinsRS |
MultiAAMissense |
25/27 |
- |
19-19257097-A-G |
MEF2B |
c.866T>C |
p.V289A |
Missense |
8/9 |
- |
12-465622-C-A |
KDM5A |
c.754G>T |
p.A252S |
Missense |
6/28 |
- |
22-24176347-A-G |
SMARCB1 |
c.1138A>G |
p.N380D |
Missense |
9/9 |
- |
1-235345700-T-C |
ARID4B |
c.2534A>G |
p.K845R |
Missense |
20/24 |
- |
18-18586364-T-G |
ROCK1 |
c.1833A>C |
p.E611D |
Missense |
16/33 |
- |
16-11349199-G-A |
SOCS1 |
c.137C>T |
p.P46L |
Missense |
2/2 |
- |
9-139412225-A-T |
NOTCH1 |
c.1420T>A |
p.F474I |
Missense |
8/34 |
- |
12-21630903-T-C |
RECQL |
c.701A>G |
p.D234G |
Missense |
7/15 |
- |
17-15964897-T-C |
NCOR1 |
c.5699A>G |
p.Y1900C |
Missense |
37/46 |
- |
5-176638671-C-T |
NSD1 |
c.3271C>T |
p.L1091F |
Missense |
5/23 |
- |
19-41765781-C-A |
AXL |
c.2657C>A |
p.A886E |
Missense |
20/20 |
- |
7-105182915-G-C |
RINT1 |
c.334G>C |
p.E112Q |
Missense |
4/15 |
- |
7-135047791-T-A |
CNOT4 |
c.1988A>T |
p.Q663L |
Missense |
12/12 |
- |
11-108218066-C-A |
ATM |
c.8645C>A |
p.S2882* |
Nonsense |
59/63 |
- |
5-180056990-C-A |
FLT4 |
c.629G>T |
p.W210L |
Missense |
5/30 |
- |
7-55211017-G-T |
EGFR |
c.260G>T |
p.G87V |
Missense |
3/28 |
- |
7-151841829-G-T |
KMT2C |
c.14312C>A |
p.S4771Y |
Missense |
55/59 |
- |
19-11491609-C-A |
EPOR |
c.778G>T |
p.V260L |
Missense |
6/8 |
- |
9-97912289-T-C |
FANCC |
c.602A>G |
p.E201G |
Missense |
7/15 |
- |
7-138189038-G-C |
TRIM24 |
c.368G>C |
p.G123A |
Missense |
2/19 |
- |
8-30999023-G-A |
WRN |
c.3045G>A |
p.W1015* |
Nonsense |
25/35 |
- |
17-56435033-C-A |
RNF43 |
c.2104G>T |
p.G702* |
Nonsense |
9/10 |
- |
3-47158236-T-A |
SETD2 |
c.4463A>T |
p.N1488I |
Missense |
4/21 |
- |
4-143130130-G-C |
INPP4B |
c.886C>G |
p.L296V |
Missense |
13/26 |
- |
5-150906914-G-A |
FAT2 |
c.10189C>T |
p.R3397* |
Nonsense |
17/24 |
- |
3-142211986-C-T |
ATR |
c.6066G>A |
p.M2022I |
Missense |
35/47 |
- |
19-11488857-C-T |
EPOR |
c.1330G>A |
p.E444K |
Missense |
8/8 |
- |
19-11488952-G-C |
EPOR |
c.1235C>G |
p.S412W |
Missense |
8/8 |
- |
14-45645084-G-C |
FANCM |
c.3127G>C |
p.V1043L |
Missense |
14/23 |
- |
9-98238431-C-T |
PTCH1 |
c.1613G>A |
p.G538E |
Missense |
12/24 |
- |
16-3786769-T-A |
CREBBP |
c.4442A>T |
p.D1481V |
Missense |
27/31 |
- |
4-55133746-C-G |
PDGFRA |
c.959C>G |
p.T320S |
Missense |
7/23 |
- |
3-142184025-C-A |
ATR |
c.6955G>T |
p.G2319* |
Nonsense |
41/47 |
- |
5-150889697-G-A |
FAT2 |
c.11944C>T |
p.H3982Y |
Missense |
22/24 |
- |
3-142178153-T-C |
ATR |
c.7265A>G |
p.K2422R |
Missense |
43/47 |
- |
16-396631-G-T |
AXIN1 |
c.395C>A |
p.S132* |
Nonsense |
2/11 |
- |
2-173420890-GC-TT |
PDK1 |
c.12_13delinsTT |
p.R5W |
Missense |
1/11 |
- |
9-139412222-G-T |
NOTCH1 |
c.1423C>A |
p.Q475K |
Missense |
8/34 |
- |
11-118361958-G-A |
KMT2A |
c.4744G>A |
p.E1582K |
Missense |
14/36 |
- |
16-2093624-C-G |
NTHL1 |
c.653G>C |
p.G210A |
Missense |
4/6 |
- |
17-37680952-G-T |
CDK12 |
c.3121G>T |
p.E1041* |
Nonsense |
12/14 |
- |
2-141253247-G-T |
LRP1B |
c.8921C>A |
p.S2974* |
Nonsense |
56/91 |
- |
4-40245166-C-A |
RHOH |
c.160C>A |
p.L54M |
Missense |
3/3 |
- |
1-94645323-G-C |
ARHGAP29 |
c.2438C>G |
p.S813* |
Nonsense |
20/23 |
- |
15-40675169-G-A |
KNSTRN |
c.133G>A |
p.G45S |
Missense |
1/9 |
- |
1-45291951-C-A |
PTCH2 |
c.3085G>T |
p.G1029C |
Missense |
19/22 |
- |
17-15978916-C-G |
NCOR1 |
c.3602G>C |
p.R1201T |
Missense |
27/46 |
- |
4-187517710-C-T |
FAT1 |
c.12984G>A |
p.W4328* |
Nonsense |
25/27 |
- |
14-75514513-C-A |
MLH3 |
c.1846G>T |
p.E616* |
Nonsense |
2/13 |
- |
13-110437578-C-T |
IRS2 |
c.823G>A |
p.D275N |
Missense |
1/2 |
- |
2-84811192-C-A |
DNAH6 |
c.2299C>A |
p.P767T |
Missense |
15/77 |
- |
17-70120487-C-T |
SOX9 |
c.1489C>T |
p.H497Y |
Missense |
3/3 |
- |
1-51436045-C-T |
CDKN2C |
c.5C>T |
p.A2V |
Missense |
1/2 |
- |
19-33793010-C-T |
CEBPA |
c.311G>A |
p.G104D |
Missense |
1/1 |
- |
2-178098963-TATCTTGCCTCCA-T |
NFE2L2 |
c.70_81del12 |
p.W24_D27del |
InFrameDeletion |
2/5 |
- |
11-22646634-AAGCCAGTGGACT-A |
FANCF |
c.711_722del12 |
p.V238_L241del |
InFrameDeletion |
1/1 |
- |
6-35423662-AG-CA |
FANCE |
c.387_388delinsCA |
p.D130N |
Missense |
2/10 |
- |
19-2206772-AGA-CAT |
DOT1L |
c.832_834delAGAinsCAT |
p.R278H |
Missense |
10/28 |
- |
4-187549912-G-C |
FAT1 |
c.4329C>G |
p.F1443L |
Missense |
8/27 |
- |
22-41560089-T-C |
EP300 |
c.3761T>C |
p.M1254T |
Missense |
22/31 |
- |
20-41306747-G-T |
PTPRT |
c.912C>A |
p.Y304* |
Nonsense |
7/31 |
- |
3-119534187-C-G |
NR1I2 |
c.955C>G |
p.L319V |
Missense |
7/9 |
- |
2-178096513-G-A |
NFE2L2 |
c.818C>T |
p.S273L |
Missense |
5/5 |
- |
7-128470764-G-T |
FLNC |
c.73G>T |
p.E25* |
Nonsense |
1/48 |
- |
13-103515081-A-G |
ERCC5 |
c.1582A>G |
p.T528A |
Missense |
8/15 |
- |
3-47098316-C-T |
SETD2 |
c.6958G>A |
p.V2320I |
Missense |
15/21 |
- |
3-134960091-A-C |
EPHB1 |
c.2448A>C |
p.E816D |
Missense |
13/16 |
- |
10-88649965-A-G |
BMPR1A |
c.214A>G |
p.I72V |
Missense |
4/13 |
- |
4-106155661-A-C |
TET2 |
c.562A>C |
p.K188Q |
Missense |
3/11 |
- |
6-106553740-C-A |
PRDM1 |
c.1705C>A |
p.Q569K |
Missense |
5/7 |
- |
7-151848556-GA-G |
KMT2C |
c.12637delT |
p.S4213Lfs*5 |
Frameshift |
50/59 |
- |
2-39213063-T-TA |
SOS1 |
c.3903_3903dupT |
p.I1302Yfs*3 |
Frameshift |
23/23 |
- |
5-150948092-CA-C |
FAT2 |
c.401delT |
p.V134Gfs*11 |
Frameshift |
2/24 |
- |
20-31022403-TC-T |
ASXL1 |
c.1888delC |
p.H630Tfs*73 |
Frameshift |
13/13 |
- |
17-7579472-GGGGGGAGCAGCCTCTGGCA-G |
TP53 |
c.197_215del19 |
p.M66Tfs*51 |
Frameshift |
4/11 |
- |
14-95582036-TGA-T |
DICER1 |
c.1874_1875delTC |
p.V625Dfs*11 |
Frameshift |
11/27 |
- |
17-7578185-GGCTCA-G |
TP53 |
c.660_664delTGAGC |
p.E221Afs*2 |
Frameshift |
6/11 |
- |
19-15288708-C-CA |
NOTCH3 |
c.4030dupT |
p.C1344Lfs*219 |
Frameshift |
24/33 |
- |
6-26271206-GCT-G |
H3C8 |
c.405_406delAG |
p.R135Sfs*8 |
Frameshift |
1/1 |
- |
3-52437685-ACT-A |
BAP1 |
c.1474_1475delAG |
p.S492Yfs*6 |
Frameshift |
13/17 |
- |
17-7576903-GA-G |
TP53 |
c.943delT |
p.S315Lfs*30 |
Frameshift |
9/11 |
- |
17-37682362-GC-G |
CDK12 |
c.3557delC |
p.P1186Qfs*2 |
Frameshift |
13/14 |
- |
17-7578207-TA-T |
TP53 |
c.642delT |
p.H214Qfs*33 |
Frameshift |
6/11 |
- |
9-98248077-C-CA |
PTCH1 |
c.473_473dupT |
p.M158Ifs*6 |
Frameshift |
3/24 |
- |
3-52441275-C-CA |
BAP1 |
c.494_494dupT |
p.M165Ifs*18 |
Frameshift |
7/17 |
- |
22-29121082-TA-T |
CHEK2 |
c.475delT |
p.Y159Tfs*2 |
Frameshift |
4/15 |
- |
1-120461957-AGCTGCCACTGCAG-A |
NOTCH2 |
c.5747_5759del13 |
p.A1916Vfs*10 |
Frameshift |
31/34 |
- |
3-47139451-CCT-C |
SETD2 |
c.5135_5136delAG |
p.K1712Rfs*15 |
Frameshift |
9/21 |
- |
16-9857251-A-AG |
GRIN2A |
c.4149dupC |
p.S1384Lfs*15 |
Frameshift |
13/13 |
- |
5-79968651-A-AT |
MSH3 |
c.1002_1002dupT |
p.T335Yfs*18 |
Frameshift |
6/24 |
- |
1-120484160-ACTCATTGATG-A |
NOTCH2 |
c.2961_2970delCATCAATGAG |
p.I988Afs*45 |
Frameshift |
18/34 |
- |
14-95566256-AGATTACAGTTGCT-A |
DICER1 |
c.4054_4066del13 |
p.S1352Cfs*23 |
Frameshift |
22/27 |
- |
12-133210842-GT-G |
POLE |
c.5933delA |
p.N1978Tfs*21 |
Frameshift |
43/49 |
- |
12-46233114-A-C |
ARID2 |
c.1333A>C |
p.M445L |
Missense |
11/21 |
- |
1-186122981-A-G |
HMCN1 |
c.15118A>G |
p.N5040D |
Missense |
97/107 |
- |
11-118307253-T-C |
KMT2A |
c.26T>C |
p.F9S |
Missense |
1/36 |
- |
2-212251627-C-G |
ERBB4 |
c.3432G>C |
p.E1144D |
Missense |
27/28 |
- |
3-134851889-C-T |
EPHB1 |
c.1295C>T |
p.A432V |
Missense |
5/16 |
- |
3-186504346-T-G |
EIF4A2 |
c.683T>G |
p.F228C |
Missense |
7/11 |
- |
5-56155650-C-CG |
MAP3K1 |
c.743_743dupG |
p.R249Tfs*52 |
Frameshift |
3/20 |
- |
5-138118990-GA-G |
CTNNA1 |
c.230delA |
p.D77Vfs*18 |
Frameshift |
3/18 |
- |
14-35871857-C-CAG |
NFKBIA |
c.648_649insCT |
p.G217Lfs*22 |
Frameshift |
5/6 |
- |
12-459846-TC-T |
KDM5A |
c.1249delG |
p.D417Tfs*8 |
Frameshift |
10/28 |
- |
5-150887137-GTGTCCTTCTGAACAACC-G |
FAT2 |
c.12079_12095del17 |
p.G4027Lfs*62 |
Frameshift |
23/24 |
- |
9-139403494-TCCACGCAGGTG-T |
NOTCH1 |
c.2988_2998del11 |
p.T997Rfs*24 |
Frameshift |
19/34 |
- |
9-139410493-CA-C |
NOTCH1 |
c.1609delT |
p.C537Afs*94 |
Frameshift |
10/34 |
- |
13-110434673-GTC-G |
IRS2 |
c.3726_3727delGA |
p.E1242Dfs*82 |
Frameshift |
1/2 |
- |
5-138269587-CAA-C |
CTNNA1 |
c.2533_2534delAA |
p.K845Vfs*32 |
Frameshift |
18/18 |
- |
17-56437530-A-AG |
RNF43 |
c.931dupC |
p.L311Pfs*132 |
Frameshift |
8/10 |
- |
17-7579348-GA-G |
TP53 |
c.338delT |
p.F113Sfs*10 |
Frameshift |
4/11 |
- |
4-187539676-AAGAAC-A |
FAT1 |
c.8059_8063delGTTCT |
p.V2687Cfs*4 |
Frameshift |
10/27 |
- |
X-63412261-A-AT |
AMER1 |
c.905dupA |
p.N302Kfs*22 |
Frameshift |
2/2 |
- |
9-139399212-AG-A |
NOTCH1 |
c.4930delC |
p.L1644Cfs*5 |
Frameshift |
26/34 |
- |
9-139399456-CCG-C |
NOTCH1 |
c.4685_4686delCG |
p.A1562Gfs*47 |
Frameshift |
26/34 |
- |
X-39931781-T-TA |
BCOR |
c.2817_2817dupT |
p.T940Yfs*6 |
Frameshift |
4/15 |
- |
19-15271746-TG-T |
NOTCH3 |
c.6692delC |
p.P2231Qfs*15 |
Frameshift |
33/33 |
- |
20-30946604-A-G |
ASXL1 |
c.26A>G |
p.K9R |
Missense |
1/13 |
- |
22-41574264-G-C |
EP300 |
c.6549G>C |
p.L2183F |
Missense |
31/31 |
- |
22-41565527-T-G |
EP300 |
c.4193T>G |
p.L1398R |
Missense |
26/31 |
- |
11-124742785-T-A |
ROBO3 |
c.1336T>A |
p.L446M |
Missense |
9/28 |
- |
2-209116253-C-T |
IDH1 |
c.23G>A |
p.G8D |
Missense |
3/10 |
- |
1-120484157-G-C |
NOTCH2 |
c.2973C>G |
p.C991W |
Missense |
18/34 |
- |
5-150947076-G-T |
FAT2 |
c.1417C>A |
p.P473T |
Missense |
2/24 |
- |
22-41566442-C-G |
EP300 |
c.4319C>G |
p.P1440R |
Missense |
27/31 |
- |
4-187521442-G-A |
FAT1 |
c.11713C>T |
p.Q3905* |
Nonsense |
22/27 |
- |
19-2222502-T-A |
DOT1L |
c.3334T>A |
p.S1112T |
Missense |
24/28 |
- |
1-120460299-G-A |
NOTCH2 |
c.6016C>T |
p.Q2006* |
Nonsense |
33/34 |
- |
3-49924868-T-C |
MST1R |
c.4075A>G |
p.T1359A |
Missense |
20/20 |
- |
17-7578370-C-T |
TP53 |
c.559+1G>A |
- |
IntronicSNV |
- |
5/10 |
13-49033844-C-T |
RB1 |
c.1981C>T |
p.R661W |
Missense |
20/27 |
- |
17-7577556-C-A |
TP53 |
c.725G>T |
p.C242F |
Missense |
7/11 |
- |
1-115258745-C-G |
NRAS |
c.37G>C |
p.G13R |
Missense |
2/7 |
- |
17-7578208-T-C |
TP53 |
c.641A>G |
p.H214R |
Missense |
6/11 |
- |
17-7578526-C-A |
TP53 |
c.404G>T |
p.C135F |
Missense |
5/11 |
- |
17-7574018-G-A |
TP53 |
c.1009C>T |
p.R337C |
Missense |
10/11 |
- |
17-7578203-C-T |
TP53 |
c.646G>A |
p.V216M |
Missense |
6/11 |
- |
17-7577079-C-A |
TP53 |
c.859G>T |
p.E287* |
Nonsense |
8/11 |
- |
5-112128191-C-T |
APC |
c.694C>T |
p.R232* |
Nonsense |
7/16 |
- |
17-7579528-C-T |
TP53 |
c.159G>A |
p.W53* |
Nonsense |
4/11 |
- |
3-12645699-G-A |
RAF1 |
c.770C>T |
p.S257L |
Missense |
7/17 |
- |
13-32950836-C-T |
BRCA2 |
c.8662C>T |
p.R2888C |
Missense |
21/27 |
- |
9-98232138-G-A |
PTCH1 |
c.1804C>T |
p.R602* |
Nonsense |
13/24 |
- |
17-7578427-T-G |
TP53 |
c.503A>C |
p.H168P |
Missense |
5/11 |
- |
12-25398262-C-G |
KRAS |
c.57G>C |
p.L19F |
Missense |
2/5 |
- |
13-48941648-C-T |
RB1 |
c.958C>T |
p.R320* |
Nonsense |
10/27 |
- |
9-21971120-G-A |
CDKN2A |
c.238C>T |
p.R80* |
Nonsense |
2/3 |
- |
9-21974792-G-T |
CDKN2A |
c.35C>A |
p.S12* |
Nonsense |
1/3 |
- |
17-7577518-T-A |
TP53 |
c.763A>T |
p.I255F |
Missense |
7/11 |
- |
22-29121242-G-A |
CHEK2 |
c.433C>T |
p.R145W |
Missense |
3/15 |
- |
17-7578479-G-A |
TP53 |
c.451C>T |
p.P151S |
Missense |
5/11 |
- |
10-89690842-C-A |
PTEN |
c.249C>A |
p.C83* |
Nonsense |
4/9 |
- |
19-40741238-C-T |
AKT2 |
c.1195G>A |
p.D399N |
Missense |
12/14 |
- |
17-7578431-G-A |
TP53 |
c.499C>T |
p.Q167* |
Nonsense |
5/11 |
- |
12-48393725-G-A |
COL2A1 |
c.269C>T |
p.P90L |
Missense |
2/54 |
- |
17-7577100-T-C |
TP53 |
c.838A>G |
p.R280G |
Missense |
8/11 |
- |
17-7577105-G-C |
TP53 |
c.833C>G |
p.P278R |
Missense |
8/11 |
- |
17-7578272-G-C |
TP53 |
c.577C>G |
p.H193D |
Missense |
6/11 |
- |
4-55131142-G-A |
PDGFRA |
c.685G>A |
p.E229K |
Missense |
5/23 |
- |
17-7578493-C-T |
TP53 |
c.437G>A |
p.W146* |
Nonsense |
5/11 |
- |
17-17119708-TG-T |
FLCN |
c.1285delC |
p.H429Tfs*39 |
Frameshift |
11/14 |
- |
7-81334827-C-T |
HGF |
c.1889G>A |
p.R630Q |
Missense |
17/18 |
- |
17-7578500-G-A |
TP53 |
c.430C>T |
p.Q144* |
Nonsense |
5/11 |
- |
7-81346551-G-A |
HGF |
c.1402C>T |
p.R468C |
Missense |
11/18 |
- |
7-116339521-A-G |
MET |
c.383A>G |
p.D128G |
Missense |
2/21 |
- |
17-7578176-C-T |
TP53 |
c.672+1G>A |
- |
IntronicSNV |
- |
6/10 |
10-123279522-C-T |
FGFR2 |
c.910G>A |
p.D304N |
Missense |
7/18 |
- |
22-30057288-C-G |
NF2 |
c.770C>G |
p.P257R |
Missense |
8/16 |
- |
22-38374090-G-A |
SOX10 |
c.481C>T |
p.R161C |
Missense |
3/4 |
- |
17-7578550-G-T |
TP53 |
c.380C>A |
p.S127Y |
Missense |
5/11 |
- |
6-162864433-T-A |
PRKN |
c.80A>T |
p.K27M |
Missense |
2/12 |
- |
17-7578503-C-T |
TP53 |
c.427G>A |
p.V143M |
Missense |
5/11 |
- |
17-7578268-A-C |
TP53 |
c.581T>G |
p.L194R |
Missense |
6/11 |
- |
17-7579358-C-A |
TP53 |
c.329G>T |
p.R110L |
Missense |
4/11 |
- |
17-7578535-T-C |
TP53 |
c.395A>G |
p.K132R |
Missense |
5/11 |
- |
17-7578442-T-G |
TP53 |
c.488A>C |
p.Y163S |
Missense |
5/11 |
- |
17-7578413-C-A |
TP53 |
c.517G>T |
p.V173L |
Missense |
5/11 |
- |
17-7577581-A-G |
TP53 |
c.700T>C |
p.Y234H |
Missense |
7/11 |
- |
17-7577094-G-C |
TP53 |
c.844C>G |
p.R282G |
Missense |
8/11 |
- |
3-178921548-G-A |
PIK3CA |
c.1030G>A |
p.V344M |
Missense |
5/21 |
- |
17-7579575-G-A |
TP53 |
c.112C>T |
p.Q38* |
Nonsense |
4/11 |
- |
17-7578554-A-G |
TP53 |
c.376T>C |
p.Y126H |
Missense |
5/11 |
- |
17-7578271-T-A |
TP53 |
c.578A>T |
p.H193L |
Missense |
6/11 |
- |
10-89717708-C-T |
PTEN |
c.733C>T |
p.Q245* |
Nonsense |
7/9 |
- |
17-7579415-C-T |
TP53 |
c.272G>A |
p.W91* |
Nonsense |
4/11 |
- |
17-7578227-C-A |
TP53 |
c.622G>T |
p.D208Y |
Missense |
6/11 |
- |
X-76937290-G-A |
ATRX |
c.3458C>T |
p.S1153L |
Missense |
9/35 |
- |
17-7577575-A-G |
TP53 |
c.706T>C |
p.Y236H |
Missense |
7/11 |
- |
17-7577046-C-A |
TP53 |
c.892G>T |
p.E298* |
Nonsense |
8/11 |
- |
9-21971186-G-A |
CDKN2A |
c.172C>T |
p.R58* |
Nonsense |
2/3 |
- |
2-178098954-C-G |
NFE2L2 |
c.91G>C |
p.G31R |
Missense |
2/5 |
- |
18-48591825-G-A |
SMAD4 |
c.988G>A |
p.E330K |
Missense |
9/12 |
- |
9-139412588-C-T |
NOTCH1 |
c.1255+1G>A |
- |
IntronicSNV |
- |
7/33 |
22-22127164-C-T |
MAPK1 |
c.964G>A |
p.E322K |
Missense |
7/9 |
- |
2-178098959-T-C |
NFE2L2 |
c.86A>G |
p.D29G |
Missense |
2/5 |
- |
5-131931451-TA-T |
RAD50 |
c.2165delA |
p.K722Rfs*14 |
Frameshift |
13/25 |
- |
17-41201137-C-T |
BRCA1 |
c.5406+1G>A |
- |
IntronicSNV |
- |
21/22 |
19-10602619-C-T |
KEAP1 |
c.959G>A |
p.R320Q |
Missense |
3/6 |
- |
5-180057744-C-T |
FLT4 |
c.211G>A |
p.G71R |
Missense |
3/30 |
- |
17-7578205-C-T |
TP53 |
c.644G>A |
p.S215N |
Missense |
6/11 |
- |
17-41246531-CT-C |
BRCA1 |
c.1016delA |
p.K339Rfs*2 |
Frameshift |
10/23 |
- |
17-7578441-G-C |
TP53 |
c.489C>G |
p.Y163* |
Nonsense |
5/11 |
- |
17-7576852-C-A |
TP53 |
c.993+1G>T |
- |
IntronicSNV |
- |
9/10 |
17-7578224-T-A |
TP53 |
c.625A>T |
p.R209* |
Nonsense |
6/11 |
- |
17-7577082-C-A |
TP53 |
c.856G>T |
p.E286* |
Nonsense |
8/11 |
- |
5-56177644-G-A |
MAP3K1 |
c.2617G>A |
p.V873I |
Missense |
14/20 |
- |
17-11998898-C-T |
MAP2K4 |
c.400C>T |
p.R134W |
Missense |
4/11 |
- |
17-7579529-C-T |
TP53 |
c.158G>A |
p.W53* |
Nonsense |
4/11 |
- |
2-178098810-C-G |
NFE2L2 |
c.235G>C |
p.E79Q |
Missense |
2/5 |
- |
16-3788618-G-A |
CREBBP |
c.4336C>T |
p.R1446C |
Missense |
26/31 |
- |
22-41565529-G-A |
EP300 |
c.4195G>A |
p.D1399N |
Missense |
26/31 |
- |
2-178098960-C-G |
NFE2L2 |
c.85G>C |
p.D29H |
Missense |
2/5 |
- |
2-178098967-T-A |
NFE2L2 |
c.78A>T |
p.Q26H |
Missense |
2/5 |
- |
2-178098956-A-C |
NFE2L2 |
c.89T>G |
p.L30R |
Missense |
2/5 |
- |
9-139413085-G-A |
NOTCH1 |
c.1057C>T |
p.R353C |
Missense |
6/34 |
- |
1-27106617-C-G |
ARID1A |
c.6228C>G |
p.Y2076* |
Nonsense |
20/20 |
- |
17-7579406-G-T |
TP53 |
c.281C>A |
p.S94* |
Nonsense |
4/11 |
- |
17-7577127-C-T |
TP53 |
c.811G>A |
p.E271K |
Missense |
8/11 |
- |
17-7578189-A-T |
TP53 |
c.660T>A |
p.Y220* |
Nonsense |
6/11 |
- |
17-7579313-G-T |
TP53 |
c.374C>A |
p.T125K |
Missense |
4/11 |
- |
17-7574017-C-A |
TP53 |
c.1010G>T |
p.R337L |
Missense |
10/11 |
- |
17-7579355-A-C |
TP53 |
c.332T>G |
p.L111R |
Missense |
4/11 |
- |
17-7577579-G-T |
TP53 |
c.702C>A |
p.Y234* |
Nonsense |
7/11 |
- |
17-7577571-A-T |
TP53 |
c.710T>A |
p.M237K |
Missense |
7/11 |
- |
7-55221800-G-A |
EGFR |
c.844G>A |
p.E282K |
Missense |
7/28 |
- |
12-46230605-G-A |
ARID2 |
c.854G>A |
p.R285Q |
Missense |
8/21 |
- |
19-17949174-C-A |
JAK3 |
c.1467G>T |
p.Q489H |
Missense |
11/24 |
- |
17-7574021-C-A |
TP53 |
c.1006G>T |
p.E336* |
Nonsense |
10/11 |
- |
9-139412664-C-T |
NOTCH1 |
c.1180G>A |
p.G394S |
Missense |
7/34 |
- |
X-63413105-C-T |
AMER1 |
c.62G>A |
p.R21H |
Missense |
2/2 |
- |
22-41568590-G-A |
EP300 |
c.4540G>A |
p.E1514K |
Missense |
28/31 |
- |
12-112926915-G-A |
PTPN11 |
c.1535G>A |
p.R512Q |
Missense |
13/16 |
- |
1-193104712-G-A |
CDC73 |
c.416G>A |
p.R139Q |
Missense |
5/17 |
- |
17-41246446-C-T |
BRCA1 |
c.1102G>A |
p.E368K |
Missense |
10/23 |
- |
17-7578410-T-A |
TP53 |
c.520A>T |
p.R174W |
Missense |
5/11 |
- |
18-48591925-G-T |
SMAD4 |
c.1088G>T |
p.C363F |
Missense |
9/12 |
- |
7-152007126-C-T |
KMT2C |
c.774G>A |
p.W258* |
Nonsense |
6/59 |
- |
17-41256183-G-T |
BRCA1 |
c.397C>A |
p.R133S |
Missense |
6/23 |
- |
5-150885331-CG-TA |
FAT2 |
c.12844_12845delCGinsTA |
p.R4282* |
Nonsense |
24/24 |
- |
9-80537095-G-T |
GNAQ |
c.303C>A |
p.Y101* |
Nonsense |
2/7 |
- |
4-187519130-G-A |
FAT1 |
c.12253C>T |
p.Q4085* |
Nonsense |
23/27 |
- |
5-251542-C-T |
SDHA |
c.1753C>T |
p.R585W |
Missense |
13/15 |
- |
2-178098959-T-G |
NFE2L2 |
c.86A>C |
p.D29A |
Missense |
2/5 |
- |
17-7577095-GTC-G |
TP53 |
c.841_842delGA |
p.D281Pfs*24 |
Frameshift |
8/11 |
- |
17-7578397-TG-T |
TP53 |
c.532delC |
p.H178Tfs*69 |
Frameshift |
5/11 |
- |
17-7579409-AG-A |
TP53 |
c.277delC |
p.L93Cfs*30 |
Frameshift |
4/11 |
- |
17-7577087-G-C |
TP53 |
c.851C>G |
p.T284R |
Missense |
8/11 |
- |
17-7578283-GC-G |
TP53 |
c.565delG |
p.A189Pfs*58 |
Frameshift |
6/11 |
- |
17-58740401-A-AT |
PPM1D |
c.1307_1307dupT |
p.P437Tfs*6 |
Frameshift |
6/6 |
- |
4-106197666-G-A |
TET2 |
c.5999G>A |
p.R2000K |
Missense |
11/11 |
- |
8-145740620-G-A |
RECQL4 |
c.1397C>T |
p.P466L |
Missense |
8/22 |
- |
9-98248148-G-A |
PTCH1 |
c.403C>T |
p.R135* |
Nonsense |
3/24 |
- |
16-3788649-A-C |
CREBBP |
c.4305T>G |
p.D1435E |
Missense |
26/31 |
- |
2-29474092-C-T |
ALK |
c.2083G>A |
p.G695S |
Missense |
12/29 |
- |
4-187542642-C-A |
FAT1 |
c.5098G>T |
p.E1700* |
Nonsense |
10/27 |
- |
20-31023408-C-T |
ASXL1 |
c.2893C>T |
p.R965* |
Nonsense |
13/13 |
- |
17-33428330-C-T |
RAD51D |
c.793G>A |
p.G265R |
Missense |
9/10 |
- |
9-139412204-C-T |
NOTCH1 |
c.1441G>A |
p.G481S |
Missense |
8/34 |
- |
9-139412252-C-T |
NOTCH1 |
c.1393G>A |
p.A465T |
Missense |
8/34 |
- |
22-22127163-T-G |
MAPK1 |
c.965A>C |
p.E322A |
Missense |
7/9 |
- |
17-7577520-A-C |
TP53 |
c.761T>G |
p.I254S |
Missense |
7/11 |
- |
2-48026852-G-A |
MSH6 |
c.1730G>A |
p.R577H |
Missense |
4/10 |
- |
9-139413072-A-G |
NOTCH1 |
c.1070T>C |
p.F357S |
Missense |
6/34 |
- |
9-139412375-C-T |
NOTCH1 |
c.1270G>A |
p.E424K |
Missense |
8/34 |
- |
17-7579418-G-A |
TP53 |
c.269C>T |
p.S90F |
Missense |
4/11 |
- |
9-139412326-C-A |
NOTCH1 |
c.1319G>T |
p.C440F |
Missense |
8/34 |
- |
19-47422005-G-A |
ARHGAP35 |
c.73G>A |
p.E25K |
Missense |
2/7 |
- |
3-52437782-G-C |
BAP1 |
c.1379C>G |
p.S460* |
Nonsense |
13/17 |
- |
17-7577143-CAGT-C |
TP53 |
c.792_794delACT |
p.L265del |
InFrameDeletion |
8/11 |
- |
9-98248009-G-T |
PTCH1 |
c.542C>A |
p.S181* |
Nonsense |
3/24 |
- |
3-12641689-G-A |
RAF1 |
c.952C>T |
p.R318W |
Missense |
9/17 |
- |
17-7578502-A-T |
TP53 |
c.428T>A |
p.V143E |
Missense |
5/11 |
- |
9-139413069-TAGA-T |
NOTCH1 |
c.1070_1072delTCT |
p.F357del |
InFrameDeletion |
6/34 |
- |
9-139412245-C-A |
NOTCH1 |
c.1400G>T |
p.C467F |
Missense |
8/34 |
- |
2-198263197-C-T |
SF3B1 |
c.3122G>A |
p.R1041H |
Missense |
21/25 |
- |
13-32954022-CA-C |
BRCA2 |
c.9097delA |
p.T3033Lfs*29 |
Frameshift |
23/27 |
- |
17-7579582-CA-C |
TP53 |
c.104delT |
p.L35Cfs*9 |
Frameshift |
4/11 |
- |
10-123239454-C-A |
FGFR2 |
c.2383G>T |
p.D795Y |
Missense |
18/18 |
- |
11-94189472-AT-A |
MRE11 |
c.1532delA |
p.N511Ifs*13 |
Frameshift |
14/20 |
- |
22-41574838-C-T |
EP300 |
c.7123C>T |
p.Q2375* |
Nonsense |
31/31 |
- |
12-4479628-C-T |
FGF23 |
c.637G>A |
p.A213T |
Missense |
3/3 |
- |
2-225339021-C-T |
CUL3 |
c.2248G>A |
p.E750K |
Missense |
16/16 |
- |
4-55161371-G-A |
PDGFRA |
c.3202G>A |
p.E1068K |
Missense |
23/23 |
- |
10-89717661-C-G |
PTEN |
c.686C>G |
p.S229* |
Nonsense |
7/9 |
- |
20-31022839-T-A |
ASXL1 |
c.2324T>A |
p.L775* |
Nonsense |
13/13 |
- |
2-225368395-C-T |
CUL3 |
c.1351G>A |
p.E451K |
Missense |
9/16 |
- |
3-47164273-G-C |
SETD2 |
c.1853C>G |
p.S618* |
Nonsense |
3/21 |
- |
9-139399276-C-T |
NOTCH1 |
c.4867G>A |
p.E1623K |
Missense |
26/34 |
- |
17-7579699-C-T |
TP53 |
c.96+1G>A |
- |
IntronicSNV |
- |
3/10 |
17-7576851-A-C |
TP53 |
c.993+2T>G |
- |
IntronicSNV |
- |
9/10 |
17-7578249-AT-A |
TP53 |
c.599delA |
p.N200Ifs*47 |
Frameshift |
6/11 |
- |
9-98231084-TGA-T |
PTCH1 |
c.2197_2198delTC |
p.S733Ifs*4 |
Frameshift |
14/24 |
- |
7-151845693-T-C |
KMT2C |
c.13319A>G |
p.Y4440C |
Missense |
52/59 |
- |
7-148524338-G-A |
EZH2 |
c.646C>T |
p.R216W |
Missense |
7/20 |
- |
9-139396497-G-A |
NOTCH1 |
c.5428C>T |
p.Q1810* |
Nonsense |
29/34 |
- |
9-135776134-G-A |
TSC1 |
c.2593C>T |
p.Q865* |
Nonsense |
20/23 |
- |
11-119144603-C-T |
CBL |
c.616C>T |
p.R206* |
Nonsense |
4/16 |
- |
9-139412212-C-T |
NOTCH1 |
c.1433G>A |
p.C478Y |
Missense |
8/34 |
- |
19-10600376-C-G |
KEAP1 |
c.1479G>C |
p.E493D |
Missense |
4/6 |
- |
17-47699375-G-A |
SPOP |
c.133C>T |
p.R45W |
Missense |
3/10 |
- |
22-42525827-C-G |
CYP2D6 |
c.265G>C |
p.E89Q |
Missense |
2/9 |
- |
2-141214085-G-T |
LRP1B |
c.9902C>A |
p.P3301H |
Missense |
62/91 |
- |
19-11144808-G-A |
SMARCA4 |
c.3883G>A |
p.E1295K |
Missense |
28/35 |
- |
6-27777978-C-T |
H3C10 |
c.127C>T |
p.R43W |
Missense |
1/1 |
- |
6-26031973-C-T |
H3C2 |
c.316G>A |
p.E106K |
Missense |
1/1 |
- |
1-11168343-C-T |
MTOR |
c.7529G>A |
p.G2510D |
Missense |
57/58 |
- |
13-32907110-C-T |
BRCA2 |
c.1495C>T |
p.Q499* |
Nonsense |
10/27 |
- |
22-41566511-T-C |
EP300 |
c.4388T>C |
p.L1463P |
Missense |
27/31 |
- |
22-29095918-C-T |
CHEK2 |
c.916G>A |
p.G306R |
Missense |
9/15 |
- |
7-13971324-G-A |
ETV1 |
c.605C>T |
p.T202M |
Missense |
9/14 |
- |
20-57484611-G-A |
GNAS |
c.695G>A |
p.R232H |
Missense |
9/13 |
- |
13-28589323-C-T |
FLT3 |
c.2724G>A |
p.M908I |
Missense |
22/24 |
- |
6-26056132-C-G |
H1-2 |
c.525G>C |
p.K175N |
Missense |
1/1 |
- |
7-40118378-G-A |
CDK13 |
c.2957G>A |
p.R986H |
Missense |
11/14 |
- |
5-150934134-T-C |
FAT2 |
c.3734A>G |
p.K1245R |
Missense |
5/24 |
- |
7-86468997-C-T |
GRM3 |
c.2167C>T |
p.R723W |
Missense |
4/6 |
- |
17-7579321-C-CA |
TP53 |
c.365dupT |
p.T123Dfs*26 |
Frameshift |
4/11 |
- |
1-120458783-C-T |
NOTCH2 |
c.6562G>A |
p.A2188T |
Missense |
34/34 |
- |
17-37881022-G-A |
ERBB2 |
c.2351G>A |
p.R784H |
Missense |
20/27 |
- |
13-49030402-C-G |
RB1 |
c.1877C>G |
p.A626G |
Missense |
19/27 |
- |
2-47657081-G-A |
MSH2 |
c.1276+1G>A |
- |
IntronicSNV |
- |
7/15 |
3-187443336-G-C |
BCL6 |
c.1790C>G |
p.S597C |
Missense |
8/10 |
- |
X-39933151-G-A |
BCOR |
c.1448C>T |
p.P483L |
Missense |
4/15 |
- |
17-37627919-C-T |
CDK12 |
c.1834C>T |
p.Q612* |
Nonsense |
2/14 |
- |
12-133256768-C-T |
POLE |
c.326G>A |
p.R109K |
Missense |
4/49 |
- |
7-55224280-C-T |
EGFR |
c.1061C>T |
p.T354M |
Missense |
9/28 |
- |
17-40839754-G-A |
CNTNAP1 |
c.1061G>A |
p.R354H |
Missense |
8/24 |
- |
3-89259610-G-T |
EPHA3 |
c.754G>T |
p.V252L |
Missense |
3/17 |
- |
9-139412742-G-C |
NOTCH1 |
c.1102C>G |
p.L368V |
Missense |
7/34 |
- |
22-41568557-T-G |
EP300 |
c.4507T>G |
p.Y1503D |
Missense |
28/31 |
- |
19-2199910-G-A |
DOT1L |
c.679G>A |
p.E227K |
Missense |
8/28 |
- |
9-97879600-G-C |
FANCC |
c.1069C>G |
p.Q357E |
Missense |
11/15 |
- |
9-87636213-C-T |
NTRK2 |
c.2378C>T |
p.T793M |
Missense |
19/19 |
- |
16-3786787-G-A |
CREBBP |
c.4424C>T |
p.P1475L |
Missense |
27/31 |
- |
19-11098465-C-T |
SMARCA4 |
c.983C>T |
p.P328L |
Missense |
6/35 |
- |
16-2136341-G-A |
TSC2 |
c.4810G>A |
p.G1604S |
Missense |
37/42 |
- |
13-48951166-C-G |
RB1 |
c.1328C>G |
p.S443* |
Nonsense |
13/27 |
- |
2-141458106-G-T |
LRP1B |
c.6512C>A |
p.A2171D |
Missense |
41/91 |
- |
2-212989506-C-T |
ERBB4 |
c.205G>A |
p.E69K |
Missense |
2/28 |
- |
7-140534579-A-T |
BRAF |
c.334T>A |
p.S112T |
Missense |
3/18 |
- |
3-52443892-C-T |
BAP1 |
c.3G>A |
p.M1? |
Missense |
1/17 |
- |
19-11106958-C-T |
SMARCA4 |
c.1663C>T |
p.Q555* |
Nonsense |
10/35 |
- |
9-139402784-C-T |
NOTCH1 |
c.3225G>A |
p.W1075* |
Nonsense |
20/34 |
- |
19-2217865-C-T |
DOT1L |
c.2639C>T |
p.P880L |
Missense |
22/28 |
- |
8-51449291-G-C |
SNTG1 |
c.603G>C |
p.K201N |
Missense |
11/19 |
- |
9-37015126-G-T |
PAX5 |
c.278C>A |
p.P93H |
Missense |
3/10 |
- |
16-72827934-T-C |
ZFHX3 |
c.8647A>G |
p.M2883V |
Missense |
9/10 |
- |
17-15961884-C-T |
NCOR1 |
c.5911G>A |
p.D1971N |
Missense |
38/46 |
- |
20-36022614-C-T |
SRC |
c.487C>T |
p.R163W |
Missense |
7/14 |
- |
3-178942585-G-C |
PIK3CA |
c.2392G>C |
p.E798Q |
Missense |
16/21 |
- |
4-1808585-C-T |
FGFR3 |
c.2198C>T |
p.A733V |
Missense |
17/18 |
- |
3-41266450-G-C |
CTNNB1 |
c.247G>C |
p.D83H |
Missense |
4/15 |
- |
1-27023685-C-A |
ARID1A |
c.791C>A |
p.S264* |
Nonsense |
1/20 |
- |
4-187628266-G-A |
FAT1 |
c.2716C>T |
p.Q906* |
Nonsense |
2/27 |
- |
5-38945824-G-A |
RICTOR |
c.4402C>T |
p.L1468F |
Missense |
34/38 |
- |
19-15276608-C-T |
NOTCH3 |
c.5657G>A |
p.G1886D |
Missense |
30/33 |
- |
17-7578489-AACCC-A |
TP53 |
c.437_440delGGGT |
p.W146Lfs*23 |
Frameshift |
5/11 |
- |
19-11488938-C-G |
EPOR |
c.1249G>C |
p.E417Q |
Missense |
8/8 |
- |
12-113515249-C-T |
DTX1 |
c.280C>T |
p.R94C |
Missense |
3/10 |
- |
3-41266891-A-G |
CTNNB1 |
c.562A>G |
p.I188V |
Missense |
5/15 |
- |
7-151919142-G-T |
KMT2C |
c.3443C>A |
p.S1148* |
Nonsense |
22/59 |
- |
2-142237983-C-T |
LRP1B |
c.325G>A |
p.E109K |
Missense |
3/91 |
- |
2-198265448-C-G |
SF3B1 |
c.2709G>C |
p.Q903H |
Missense |
18/25 |
- |
19-15297996-C-T |
NOTCH3 |
c.1760G>A |
p.R587H |
Missense |
11/33 |
- |
9-136913405-C-T |
BRD3 |
c.886G>A |
p.G296S |
Missense |
6/12 |
- |
15-88669522-C-T |
NTRK3 |
c.1376G>A |
p.R459Q |
Missense |
13/20 |
- |
9-21971202-C-CA |
CDKN2A |
c.155dupT |
p.M52Ifs*68 |
Frameshift |
2/3 |
- |
1-116932282-G-A |
ATP1A1 |
c.976G>A |
p.G326S |
Missense |
8/23 |
- |
9-139413165-C-T |
NOTCH1 |
c.977G>A |
p.G326D |
Missense |
6/34 |
- |
X-47032581-C-T |
RBM10 |
c.487C>T |
p.R163W |
Missense |
5/24 |
- |
9-139418227-GC-G |
NOTCH1 |
c.344delG |
p.G115Afs*8 |
Frameshift |
3/34 |
- |
7-86416133-C-T |
GRM3 |
c.1025C>T |
p.P342L |
Missense |
3/6 |
- |
11-77934649-G-A |
GAB2 |
c.1376C>T |
p.S459F |
Missense |
6/10 |
- |
19-17945768-C-T |
JAK3 |
c.2092G>A |
p.E698K |
Missense |
16/24 |
- |
10-8100507-G-T |
GATA3 |
c.481G>T |
p.V161F |
Missense |
3/6 |
- |
17-47696739-C-T |
SPOP |
c.209G>A |
p.R70Q |
Missense |
4/10 |
- |
17-66521916-G-A |
PRKAR1A |
c.571G>A |
p.A191T |
Missense |
7/11 |
- |
9-139413151-C-A |
NOTCH1 |
c.991G>T |
p.D331Y |
Missense |
6/34 |
- |
17-7579578-GA-G |
TP53 |
c.109delT |
p.S37Pfs*7 |
Frameshift |
4/11 |
- |
20-31022390-AG-A |
ASXL1 |
c.1879delG |
p.A627Rfs*76 |
Frameshift |
13/13 |
- |
9-8492898-G-A |
PTPRD |
c.2431C>T |
p.R811C |
Missense |
27/46 |
- |
3-89391087-C-T |
EPHA3 |
c.1153C>T |
p.R385* |
Nonsense |
5/17 |
- |
2-141625798-G-A |
LRP1B |
c.4204C>T |
p.P1402S |
Missense |
26/91 |
- |
14-45605469-G-A |
FANCM |
c.235G>A |
p.A79T |
Missense |
1/23 |
- |
4-187521103-C-T |
FAT1 |
c.12052G>A |
p.A4018T |
Missense |
22/27 |
- |
7-128845086-G-A |
SMO |
c.580G>A |
p.E194K |
Missense |
3/12 |
- |
1-27100922-C-T |
ARID1A |
c.4204C>T |
p.Q1402* |
Nonsense |
18/20 |
- |
16-3652140-C-T |
SLX4 |
c.929G>A |
p.R310Q |
Missense |
4/15 |
- |
22-41565578-A-C |
EP300 |
c.4244A>C |
p.H1415P |
Missense |
26/31 |
- |
17-29508761-G-T |
NF1 |
c.688G>T |
p.E230* |
Nonsense |
7/58 |
- |
11-46917494-G-GC |
LRP4 |
c.1123dupG |
p.A375Gfs*24 |
Frameshift |
10/38 |
- |
17-37666007-G-A |
CDK12 |
c.2659G>A |
p.E887K |
Missense |
7/14 |
- |
6-32945698-T-G |
BRD2 |
c.1494T>G |
p.D498E |
Missense |
9/13 |
- |
5-150925497-G-A |
FAT2 |
c.5191C>T |
p.R1731* |
Nonsense |
10/24 |
- |
2-225368470-C-A |
CUL3 |
c.1276G>T |
p.D426Y |
Missense |
9/16 |
- |
19-38951082-T-A |
RYR1 |
c.2428T>A |
p.C810S |
Missense |
20/106 |
- |
19-2223485-G-A |
DOT1L |
c.3596G>A |
p.R1199Q |
Missense |
25/28 |
- |
9-139396847-AC-A |
NOTCH1 |
c.5260delG |
p.V1754Cfs*44 |
Frameshift |
28/34 |
- |
3-52620481-G-C |
PBRM1 |
c.3272C>G |
p.S1091* |
Nonsense |
21/30 |
- |
13-28980002-G-A |
FLT1 |
c.1466C>T |
p.S489F |
Missense |
11/30 |
- |