PMID: 35509869

Paclitaxel and cisplatin with or without cetuximab in metastatic esophageal squamous cell carcinoma: a randomized, multicenter phase II trial.

Innovation (Cambridge (Mass.))
Lu, Zhihao Z, Zhang, Yanqiao Y, Fan, Qingxia Q, Pan, Yueyin Y, Jiang, Da D, Lu, Ping P, Zhang, Jingdong J, Yuan, Xianglin X, Feng, Jifeng J, Yang, Shujun S, Yue, Wenbin W, Zhao, Lin L, Xu, Yunhua Y, Luo, Jinhua J, Shen, Lin L
2022-05-10

689 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
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 -