PMID: 36969747

Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.

Cancer research communications
Frank, Malene S MS, Andersen, Christina S A CSA, Ahlborn, Lise B LB, Pallisgaard, Niels N, Bodtger, Uffe U, Gehl, Julie J
2022-10

596 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-47703533-A-G MSH2 c.2033A>G p.Y678C Missense 13/16 -
19-1221961-C-A STK11 c.876C>A p.Y292* Nonsense 7/10 -
10-89711896-A-T PTEN c.514A>T p.R172W Missense 6/9 -
2-141259425-G-C LRP1B c.8681C>G p.S2894* Nonsense 55/91 -
13-32915127-G-A BRCA2 c.6635G>A p.C2212Y Missense 11/27 -
12-49444072-TC-T KMT2D c.3298delG p.D1100Tfs*19 Frameshift 12/55 -
9-5126690-A-T JAK2 c.3298A>T p.M1100L Missense 25/25 -
19-36211905-CA-C KMT2B c.1659delA p.K553Nfs*52 Frameshift 3/37 -
17-41223171-G-C BRCA1 c.4760C>G p.S1587* Nonsense 15/23 -
15-45007802-T-A B2M c.249T>A p.Y83* Nonsense 2/4 -
19-15291542-C-T NOTCH3 c.3092G>A p.R1031H Missense 19/33 -
15-45007806-CTT-C B2M c.253_254delTT p.L85Vfs*4 Frameshift 2/4 -
4-55964400-C-T KDR c.2413G>A p.V805I Missense 17/30 -
X-76938520-CT-TA ATRX c.2227_2228delAGinsTA p.R743* Nonsense 9/35 -
3-47127794-G-T SETD2 c.5288C>A p.S1763* Nonsense 11/21 -
22-30069393-G-T NF2 c.1258G>T p.E420* Nonsense 12/16 -
7-151921239-C-T KMT2C c.3184G>A p.A1062T Missense 20/59 -
12-133202900-G-A POLE c.6334C>T p.L2112= Synonymous 46/49 -
3-186501407-G-T EIF4A2 c.8G>T p.G3V Missense 1/11 -
17-7576913-GT-G TP53 c.932delA p.N311Tfs*34 Frameshift 9/11 -
12-115120945-G-A TBX3 c.61C>T p.L21= Synonymous 1/7 -
22-41558779-G-C EP300 c.3724G>C p.E1242Q Missense 21/31 -
5-112174305-C-A APC c.3014C>A p.A1005D Missense 16/16 -
X-47044889-G-T RBM10 c.2215G>T p.E739* Nonsense 20/24 -
7-152007151-C-T KMT2C c.749G>A p.W250* Nonsense 6/59 -
16-89839756-G-T FANCA c.1937C>A p.A646D Missense 22/43 -
X-20150343-G-A EIF1AX c.294C>T p.D98= Synonymous 5/7 -
16-3808016-G-A CREBBP c.3403C>T p.L1135F Missense 18/31 -
2-47630399-T-C MSH2 c.69T>C p.F23= Synonymous 1/16 -
12-133250256-G-C POLE c.1264C>G p.H422D Missense 13/49 -
5-112174605-G-T APC c.3314G>T p.R1105L Missense 16/16 -
7-140624404-C-A BRAF c.100G>T p.A34S Missense 1/18 -
7-140500210-G-A BRAF c.932C>T p.A311V Missense 7/18 -
17-37881066-C-G ERBB2 c.2395C>G p.Q799E Missense 20/27 -
17-56770095-G-C RAD51C c.91G>C p.G31R Missense 1/9 -
3-178938922-G-T PIK3CA c.2164G>T p.E722* Nonsense 14/21 -
9-21974738-GC-G CDKN2A c.88delG p.A30Rfs*23 Frameshift 1/3 -
9-37020768-AC-A PAX5 c.76delG p.V26Ffs*3 Frameshift 2/10 -
19-11141532-CTG-C SMARCA4 c.3512_3513delTG p.V1171Dfs*4 Frameshift 25/35 -
16-23646540-T-A PALB2 c.1327A>T p.K443* Nonsense 4/13 -
2-42522623-A-G EML4 c.1456A>G p.T486A Missense 13/23 -
17-29556374-GG-AT NF1 c.2741_2742delGGinsAT p.R914H Missense 21/58 -
19-1207186-G-T STK11 c.274G>T p.E92* Nonsense 1/10 -
19-11105565-C-T SMARCA4 c.1481C>T p.T494I Missense 9/35 -
17-29665122-G-T NF1 c.6784G>T p.G2262W Missense 45/58 -
17-78899179-G-A RPTOR c.2818G>A p.D940N Missense 24/34 -
5-176941957-G-C DDX41 c.758C>G p.S253* Nonsense 8/17 -
7-77973097-G-A MAGI2 c.1406C>T p.T469I Missense 9/22 -
17-29552254-G-T NF1 c.1987G>T p.G663W Missense 17/58 -
19-10597364-G-T KEAP1 c.1839C>A p.C613* Nonsense 6/6 -
X-39933875-C-A BCOR c.724G>T p.E242* Nonsense 4/15 -
11-108198486-G-A ATM c.7089+1G>A - IntronicSNV - 48/62
7-140439693-CCG-ACA BRAF c.2044_2046delCGGinsTGT p.R682C Missense 17/18 -
2-29446357-C-G ALK c.3210G>C p.Q1070H Missense 20/29 -
5-138163408-G-T CTNNA1 c.1062+1G>T - IntronicSNV - 7/17
10-88649909-AG-A BMPR1A c.160delG p.D54Ifs*6 Frameshift 4/13 -
13-48954214-AT-A RB1 c.1419delT p.F473Lfs*5 Frameshift 15/27 -
20-41818285-C-A PTPRT c.88+1G>T - IntronicSNV - 1/30
12-46215266-TTAAGG-T ARID2 c.705_705+4delGGTAA - SpliceDonorDeletion 6/21 6/20
17-7578370-ACCATCGCTATCTGAGCAGCGCTCATGGTGGGGGCAGC-A TP53 c.524_559+1del37 - SpliceDonorDeletion 5/11 5/10
1-158632693-C-A SPTA1 c.2263G>T p.E755* Nonsense 17/52 -
17-7578547-AGGGGAG-A TP53 c.378_383delCTCCCC p.S127_P128del InFrameDeletion 5/11 -
2-25470976-GG-AC DNMT3A c.784_785delCCinsGT p.P262V Missense 7/23 -
8-69058586-AG-A PREX2 c.4231+1delG - IntronicDeletion - 34/39
4-55970809-C-A KDR c.1987+1G>T - IntronicSNV - 13/29
19-2210855-G-T DOT1L c.1351+1G>T - IntronicSNV - 14/27
19-11098601-G-T SMARCA4 c.1118+1G>T - IntronicSNV - 6/34
7-142654913-C-A KEL c.672+1G>T - IntronicSNV - 6/18
18-48586276-CAATCATCCTGGT-C SMAD4 c.948_955+4del12 - SpliceDonorDeletion 8/12 8/11
1-158641131-A-C SPTA1 c.1599+2T>G - IntronicSNV - 12/51
22-41554506-T-A EP300 c.3590+2T>A - IntronicSNV - 19/30
X-47044892-G-T RBM10 c.2218G>T p.E740* Nonsense 20/24 -
17-59937220-T-A BRIP1 c.142A>T p.T48S Missense 3/20 -
X-63412323-C-A AMER1 c.844G>T p.E282* Nonsense 2/2 -
8-113651071-C-G CSMD3 c.3380G>C p.G1127A Missense 21/71 -
12-57549994-G-T LRP1 c.1345G>T p.E449* Nonsense 9/89 -
X-67432014-A-T OPHN1 c.638T>A p.L213Q Missense 8/25 -
X-48650815-C-A GATA1 c.684C>A p.C228* Nonsense 4/6 -
12-49433746-C-A KMT2D c.7807G>T p.E2603* Nonsense 32/55 -
6-32180956-C-A NOTCH4 c.2394G>T p.Q798H Missense 15/30 -
15-41991333-G-T MGA c.2164G>T p.V722L Missense 5/24 -
X-70601728-C-T TAF1 c.1556C>T p.P499L Missense 9/38 -
12-46233240-G-T ARID2 c.1459G>T p.E487* Nonsense 11/21 -
6-27777951-G-T H3C10 c.100G>T p.G34C Missense 1/1 -
7-151945535-C-A KMT2C c.1984G>T p.V662L Missense 14/59 -
X-47045172-G-T RBM10 c.2413G>T p.E805* Nonsense 21/24 -
7-55273275-G-T EGFR c.3598G>T p.V1200F Missense 28/28 -
2-141116452-G-T LRP1B c.11195C>A p.S3732* Nonsense 73/91 -
19-15296464-C-A NOTCH3 c.1978G>T p.E660* Nonsense 13/33 -
3-181430688-C-A SOX2 c.540C>A p.Y180* Nonsense 1/1 -
19-5244317-T-C PTPRS c.1165A>G p.I389V Missense 11/38 -
X-110439745-G-A PAK3 c.1284G>A p.W428* Nonsense 16/18 -
17-59760902-C-T BRIP1 c.3505G>A p.D1169N Missense 20/20 -
2-141201966-A-T LRP1B c.10227T>A p.C3409* Nonsense 65/91 -
19-11118620-C-T SMARCA4 c.2044C>T p.L682= Synonymous 14/35 -
2-141143479-G-T LRP1B c.10514C>A p.S3505* Nonsense 67/91 -
19-11132560-A-T SMARCA4 c.2776A>T p.N926Y Missense 19/35 -
17-29552213-A-C NF1 c.1946A>C p.E649A Missense 17/58 -
11-108141842-G-T ATM c.2890G>T p.E964* Nonsense 19/63 -
13-26971321-G-A CDK8 c.892G>A p.E298K Missense 9/13 -
X-47030598-G-A RBM10 c.373G>A p.E125K Missense 4/24 -
19-15291619-GCT-TCA NOTCH3 c.3013_3015delAGCinsTGA p.S1005* Nonsense 19/33 -
1-158656284-GGT-TTA SPTA1 c.22_24delACCinsTAA p.T8* Nonsense 1/52 -
2-29498032-TCT-ATG ALK c.1972_1974delAGAinsCAT p.R658H Missense 11/29 -
4-20569208-A-C SLIT2 c.2918A>C p.H973P Missense 28/37 -
13-103528071-T-A ERCC5 c.3379T>A p.S1127T Missense 15/15 -
X-63411229-CCG-ACA AMER1 c.1936_1938delCGGinsTGT p.R646C Missense 2/2 -
16-3645621-CCT-ACA SLX4 c.1996_1998delAGGinsTGT p.R666C Missense 9/15 -
17-78865520-G-T RPTOR c.1984G>T p.E662* Nonsense 18/34 -
2-220100747-G-T ANKZF1 c.1987G>T p.E663* Nonsense 13/14 -
X-67273647-C-A OPHN1 c.2164G>T p.A722S Missense 22/25 -
4-55604686-C-A KIT c.2894C>A p.S965Y Missense 21/21 -
19-17937712-T-G JAK3 c.3215A>C p.E1072A Missense 24/24 -
8-37555026-C-T ZNF703 c.607C>T p.P203S Missense 2/2 -
15-91306348-G-T BLM c.2035G>T p.A679S Missense 8/22 -
6-27778143-G-T H3C10 c.292G>T p.E98* Nonsense 1/1 -
16-72993945-C-A ZFHX3 c.100G>T p.D34Y Missense 2/10 -
6-26021062-C-A H3C1 c.345C>A p.A115= Synonymous 1/1 -
17-37627337-A-T CDK12 c.1252A>T p.K418* Nonsense 2/14 -
20-46255767-G-C NCOA3 c.379G>C p.V127L Missense 6/23 -
20-9561130-C-A PAK5 c.652G>T p.E218* Nonsense 4/10 -
8-48776035-T-A PRKDC c.5674A>T p.K1891M Missense 43/87 -
1-11308073-C-A MTOR c.919G>T p.G307* Nonsense 7/58 -
2-109399253-G-T RANBP2 c.9304G>T p.G3102* Nonsense 28/29 -
1-11227506-C-T MTOR c.4322G>A p.G1441E Missense 29/58 -
1-16202911-G-T SPEN c.619G>T p.E207* Nonsense 3/15 -
16-72993035-A-G ZFHX3 c.1010T>C p.V337A Missense 2/10 -
17-66524034-T-C PRKAR1A c.762T>C p.S254= Synonymous 8/11 -
2-17962706-C-T GEN1 c.2227C>T p.L743= Synonymous 14/14 -
7-116418844-G-C MET c.3355G>C p.G1119R Missense 17/21 -
11-108196039-C-A ATM c.6575C>A p.S2192* Nonsense 46/63 -
1-46511637-G-C PIK3R3 c.1140C>G p.F380L Missense 9/10 -
17-29486070-C-G NF1 c.247C>G p.Q83E Missense 3/58 -
17-29552119-G-C NF1 c.1852G>C p.D618H Missense 17/58 -
8-37672419-T-A ADGRA2 c.272T>A p.L91* Nonsense 2/19 -
8-37689026-A-T ADGRA2 c.1018A>T p.K340* Nonsense 8/19 -
8-68939481-A-T PREX2 c.466A>T p.K156* Nonsense 5/40 -
X-63412157-A-G AMER1 c.1010T>C p.M337T Missense 2/2 -
8-32406251-G-T NRG1 c.7G>T p.E3* Nonsense 1/12 -
18-42281453-A-T SETBP1 c.142A>T p.I48F Missense 2/6 -
19-11136154-C-A SMARCA4 c.3138C>A p.C1046* Nonsense 22/35 -
3-138403597-T-A PIK3CB c.2185A>T p.N729Y Missense 17/24 -
12-120541663-G-A RAB35 c.194C>T p.A65V Missense 3/6 -
X-76845389-G-C ATRX c.6132C>G p.L2044= Synonymous 27/35 -
19-2210818-C-T DOT1L c.1315C>T p.Q439* Nonsense 14/28 -
2-141115582-G-T LRP1B c.11361C>A p.C3787* Nonsense 74/91 -
3-52584650-C-A PBRM1 c.4363G>T p.G1455* Nonsense 29/30 -
3-89390121-C-A EPHA3 c.870C>A p.C290* Nonsense 4/17 -
5-112178391-C-T APC c.7100C>T p.T2367I Missense 16/16 -
5-112090588-A-T APC c.1A>T p.M1? Missense 2/16 -
X-53225220-C-A KDM5C c.2998G>T p.A1000S Missense 20/26 -
19-11141426-CG-TA SMARCA4 c.3403_3404delCGinsTA p.R1135* Nonsense 25/35 -
4-187630427-G-GT FAT1 c.554dupA p.Y185* Nonsense 2/27 -
17-33430530-C-A RAD51D c.610G>T p.V204F Missense 7/10 -
5-86685282-G-T RASA1 c.2998G>T p.E1000* Nonsense 24/25 -
X-76849218-T-C ATRX c.6058A>G p.M2020V Missense 26/35 -
4-55604692-C-G KIT c.2900C>G p.S967C Missense 21/21 -
15-42040867-C-T MGA c.5245C>T p.Q1749* Nonsense 16/24 -
3-178947190-A-G PIK3CA c.2626A>G p.T876A Missense 18/21 -
2-141072538-G-T LRP1B c.12771C>A p.C4257* Nonsense 83/91 -
4-143003219-C-T INPP4B c.2607G>A p.K869= Synonymous 25/26 -
2-204736114-C-A CTLA4 c.471C>A p.C157* Nonsense 3/4 -
5-86642511-A-T RASA1 c.1072A>T p.K358* Nonsense 7/25 -
11-108163458-C-G ATM c.4549C>G p.L1517V Missense 30/63 -
6-26020926-G-A H3C1 c.209G>A p.R70H Missense 1/1 -
7-55211071-A-C EGFR c.314A>C p.Q105P Missense 3/28 -
12-133249852-CG-GA POLE c.1370_1371delCGinsTC p.T457I Missense 14/49 -
11-22646387-T-TA FANCF c.969_969dupT p.K324* Nonsense 1/1 -
4-187629666-G-A FAT1 c.1316C>T p.T439I Missense 2/27 -
17-7577051-GTGAGGCTCCCCTTTCTTGCGGAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACA-G TP53 c.819_887del69 p.C277Pfs*9 InFrameDeletion 8/11 -
17-37871555-A-G ERBB2 c.1165A>G p.T389A Missense 10/27 -
6-26020811-G-T H3C1 c.94G>T p.A32S Missense 1/1 -
5-86682685-A-T RASA1 c.2890A>T p.K964* Nonsense 23/25 -
9-8484348-C-T PTPRD c.3184G>A p.E1062K Missense 30/46 -
7-79082528-C-A MAGI2 c.109G>T p.E37* Nonsense 1/22 -
17-29562728-T-G NF1 c.3808T>G p.S1270A Missense 28/58 -
16-72991656-T-A ZFHX3 c.2389A>T p.K797* Nonsense 2/10 -
17-29554607-A-T NF1 c.2392A>T p.K798* Nonsense 20/58 -
1-158632597-T-A SPTA1 c.2359A>T p.K787* Nonsense 17/52 -
5-56179376-A-G MAP3K1 c.3689A>G p.H1230R Missense 15/20 -
2-190719505-A-C PMS1 c.1507A>C p.I503L Missense 9/13 -
1-27059257-C-T ARID1A c.1894C>T p.L632F Missense 4/20 -
20-31021448-G-T ASXL1 c.1447G>T p.V483F Missense 12/13 -
7-151949054-C-A KMT2C c.1591G>T p.E531* Nonsense 11/59 -
17-7578454-G-GA TP53 c.475_476insT p.A159Vfs*22 Frameshift 5/11 -
3-47098781-CA-C SETD2 c.6492delT p.F2164Lfs*84 Frameshift 15/21 -
2-215617191-AG-A BARD1 c.1656delC p.S553Qfs*7 Frameshift 7/11 -
7-86416151-AC-A GRM3 c.1047delC p.W350Gfs*45 Frameshift 3/6 -
13-32915311-AG-A BRCA2 c.6821delG p.G2274Efs*6 Frameshift 11/27 -
17-7579441-C-CA TP53 c.245_246insT p.A83Gfs*66 Frameshift 4/11 -
3-189526258-GCA-G TP63 c.525_526delCA p.H175Qfs*22 Frameshift 4/14 -
5-112174330-TATGG-T APC c.3043_3046delGATG p.D1015Ifs*6 Frameshift 16/16 -
8-48843262-CG-C PRKDC c.1862delC p.S621Wfs*33 Frameshift 17/87 -
19-11098592-CGA-C SMARCA4 c.1112_1113delAG p.E371Vfs*15 Frameshift 6/35 -
1-27099945-CCACG-C ARID1A c.3824_3827delCACG p.P1275Hfs*13 Frameshift 15/20 -
19-10602767-CG-C KEAP1 c.810delC p.V271Cfs*6 Frameshift 3/6 -
15-41988914-TC-T MGA c.1706delC p.S569* Frameshift 3/24 -
19-18273033-AG-A PIK3R2 c.925delG p.A309Qfs*32 Frameshift 8/16 -
17-41256956-CGTACTTTCTTG-C BRCA1 c.220_230del11 p.Q74Efs*3 Frameshift 5/23 -
12-46215254-GATAGAGACTTC-G ARID2 c.689_699del11 p.D230Gfs*2 Frameshift 6/21 -
17-7577043-AGCTCGTGGTGAGGCTCCCCT-A TP53 c.876_895del20 p.K292Nfs*7 Frameshift 8/11 -
9-21974760-CCCGGG-C CDKN2A c.62_66delCCCGG p.A21Gfs*21 Frameshift 1/3 -
19-11105566-AG-A SMARCA4 c.1484delG p.G495Afs*6 Frameshift 9/35 -
1-59248357-C-CTT JUN c.385_386insAA p.S129Kfs*20 Frameshift 1/1 -
19-11123778-G-GA SMARCA4 c.2428_2429insA p.V810Dfs*14 Frameshift 16/35 -
19-1220393-AC-A STK11 c.486delC p.D162Efs*125 Frameshift 4/10 -
12-57861938-GC-G GLI1 c.1242delC p.K415Rfs*15 Frameshift 10/12 -
2-142012206-AC-A LRP1B c.348delG p.L117Yfs*7 Frameshift 4/91 -
17-7574026-C-CA TP53 c.1000_1001insT p.G334Vfs*3 Frameshift 10/11 -
14-36986820-A-ACCTGCTT NKX2-1 c.868_869insAAGCAGG p.V290Efs*151 Frameshift 3/3 -
2-17953971-CTA-C GEN1 c.875_876delAT p.Y292* Frameshift 8/14 -
19-11098348-T-TGGAAGCA SMARCA4 c.868_869insAAGCAGG p.A290Efs*99 Frameshift 6/35 -
17-7579536-TCAATATCG-T TP53 c.144_151delCGATATTG p.D48Efs*6 Frameshift 4/11 -
17-29483003-TC-T NF1 c.65delC p.P22Qfs*2 Frameshift 2/58 -
17-41244422-TG-T BRCA1 c.3126delC p.S1042Rfs*6 Frameshift 10/23 -
8-38282090-C-CT FGFR1 c.872_872dupA p.H292Afs*26 Frameshift 7/18 -
10-89685288-ATAAAAACCATT-A PTEN c.183_193del11 p.H61Qfs*9 Frameshift 3/9 -
17-7982766-AGG-A ALOX12B c.1017_1018delCC p.C341Pfs*32 Frameshift 8/15 -
17-29509658-T-TC NF1 c.863_864insC p.V289Gfs*2 Frameshift 8/58 -
9-21974685-GC-G CDKN2A c.141delG p.R47Sfs*6 Frameshift 1/3 -
19-11096974-AT-A SMARCA4 c.465delT p.D155Efs*148 Frameshift 4/35 -
12-121432118-C-CA HNF1A c.865_866insA p.P289Hfs*28 Frameshift 4/10 -
8-48697840-CT-C PRKDC c.10940delA p.G3647Vfs*5 Frameshift 78/87 -
8-69069648-C-CA PREX2 c.4326_4326dupA p.Q1443Tfs*29 Frameshift 35/40 -
5-80064663-TA-T MSH3 c.2098delA p.T700Lfs*12 Frameshift 15/24 -
2-141130602-C-CA LRP1B c.10742_10743insT p.E3582Gfs*3 Frameshift 69/91 -
2-141130604-C-CT LRP1B c.10740_10741insA p.G3581Rfs*4 Frameshift 69/91 -
12-550090-AAG-A CCDC77 c.1248_1249delAG p.E416Dfs*5 Frameshift 12/13 -
19-11144113-CGGCA-C SMARCA4 c.3694_3697delGGCA p.G1232Cfs*58 Frameshift 26/35 -
16-23641486-G-GC PALB2 c.1988_1988dupG p.M664Hfs*51 Frameshift 5/13 -
13-48955426-CCCATGGATTCTGAATGTGCTTAATTTAAAAG-C RB1 c.1545_1575del31 p.W516Lfs*6 Frameshift 17/27 -
5-112103034-TGTAAATG-T APC c.371_377delTAAATGG p.V124Efs*9 Frameshift 4/16 -
3-178941903-CGACCAGAT-C PIK3CA c.2222_2229delGACCAGAT p.R741Lfs*24 Frameshift 15/21 -
4-187628543-CGACAA-C FAT1 c.2435_2439delTTGTC p.V812Gfs*4 Frameshift 2/27 -
9-21970996-CA-C CDKN2A c.362delT p.L121Rfs*25 Frameshift 2/3 -
14-36986619-G-GA NKX2-1 c.1069_1069dupT p.S357Ffs*82 Frameshift 3/3 -
16-72991498-GC-G ZFHX3 c.2546delG p.G849Afs*22 Frameshift 2/10 -
12-49434504-TG-T KMT2D c.7048delC p.Q2350Rfs*34 Frameshift 32/55 -
12-46285682-CT-C ARID2 c.5046delT p.F1682Lfs*19 Frameshift 17/21 -
9-8518392-TC-T PTPRD c.999delG p.S334Afs*8 Frameshift 21/46 -
1-158617494-TC-T SPTA1 c.3730delG p.E1244Rfs*24 Frameshift 27/52 -
11-108121567-C-CT ATM c.1377_1377dupT p.T460Yfs*27 Frameshift 10/63 -
12-46230625-A-AT ARID2 c.878_878dupT p.L293Ffs*7 Frameshift 8/21 -
15-42041857-AG-A MGA c.6052delG p.E2018Kfs*4 Frameshift 17/24 -
17-59763466-TTCCAGTGCACTTTCAA-T BRIP1 c.2621_2636del16 p.F874Yfs*18 Frameshift 19/20 -
19-45910479-CTT-C POLR1G c.152_153delTT p.F51Cfs*68 Frameshift 2/3 -
19-1221249-GGACAA-G STK11 c.772_776delGACAA p.D258Hfs*6 Frameshift 6/10 -
7-151970802-GCT-G KMT2C c.999_1000delAG p.Q333Hfs*3 Frameshift 7/59 -
1-204513736-TAGGTGTTGGA-T MDM4 c.748_757delGGTGTTGGAA p.G250* Frameshift 9/11 -
3-47098457-CAAACACTATAA-C SETD2 c.6807_6817del11 p.N2269Kfs*96 Frameshift 15/21 -
20-40944613-T-TG PTPRT c.1888_1889insC p.E630Afs*12 Frameshift 12/31 -
4-55599307-T-TG KIT c.2434_2434dupG p.L813Sfs*8 Frameshift 17/21 -
7-55229224-T-TC EGFR c.1536_1536dupC p.E513Rfs*33 Frameshift 13/28 -
4-187540528-AG-A FAT1 c.7211delC p.P2404Lfs*6 Frameshift 10/27 -
7-151945297-AT-A KMT2C c.2221delA p.M741* Frameshift 14/59 -
11-108163470-G-GT ATM c.4563_4563dupT p.G1522Wfs*9 Frameshift 30/63 -
10-89692884-A-AC PTEN c.369_369dupC p.C124Lfs*2 Frameshift 5/9 -
19-11118681-ACG-A SMARCA4 c.2110_2111delCG p.R704Afs*4 Frameshift 14/35 -
18-48586270-C-CAAAATTG SMAD4 c.940_941insAAATTGA p.I314Kfs*10 Frameshift 8/12 -
4-106157771-AACAAGCTTCAGTTCTAC-A TET2 c.2674_2690del17 p.Q892Gfs*3 Frameshift 3/11 -
11-108163456-ATCTTCATGTTATTGTTGGTACACTTATACCCCTTG-A ATM c.4549_4583del35 p.L1517Vfs*2 Frameshift 30/63 -
17-7576852-C-T TP53 c.993+1G>A - IntronicSNV - 9/10
9-35076564-GC-G FANCG c.941delG p.C314Sfs*12 Frameshift 8/14 -
19-45858089-TC-T ERCC2 c.1563delG p.N522Tfs*187 Frameshift 17/23 -
4-187630428-T-TA FAT1 c.553_553dupT p.Y185Lfs*5 Frameshift 2/27 -
7-140481402-C-A BRAF c.1406G>T p.G469V Missense 11/18 -
7-140453136-A-T BRAF c.1799T>A p.V600E Missense 15/18 -
1-115256530-G-T NRAS c.181C>A p.Q61K Missense 3/7 -
1-115256529-T-A NRAS c.182A>T p.Q61L Missense 3/7 -
1-115256529-T-C NRAS c.182A>G p.Q61R Missense 3/7 -
1-115258745-C-G NRAS c.37G>C p.G13R Missense 2/7 -
12-25380275-T-A KRAS c.183A>T p.Q61H Missense 3/5 -
12-25380275-T-G KRAS c.183A>C p.Q61H Missense 3/5 -
17-7578406-C-T TP53 c.524G>A p.R175H Missense 5/11 -
17-7577141-C-T TP53 c.797G>A p.G266E Missense 8/11 -
17-7577570-C-A TP53 c.711G>T p.M237I Missense 7/11 -
11-108124761-T-C ATM c.2119T>C p.S707P Missense 13/63 -
7-140453155-C-T BRAF c.1780G>A p.D594N Missense 15/18 -
17-7578461-C-A TP53 c.469G>T p.V157F Missense 5/11 -
17-7577099-C-T TP53 c.839G>A p.R280K Missense 8/11 -
17-7578534-CTTG-C TP53 c.393_395delCAA p.N131del InFrameDeletion 5/11 -
12-25398284-C-G KRAS c.35G>C p.G12A Missense 2/5 -
12-25398285-C-G KRAS c.34G>C p.G12R Missense 2/5 -
17-7579312-C-A TP53 c.375G>T p.T125= Synonymous 4/11 -
12-25398282-C-A KRAS c.37G>T p.G13C Missense 2/5 -
3-178936091-G-A PIK3CA c.1633G>A p.E545K Missense 10/21 -
12-25398281-C-T KRAS c.38G>A p.G13D Missense 2/5 -
12-25398285-C-T KRAS c.34G>A p.G12S Missense 2/5 -
17-7577121-G-A TP53 c.817C>T p.R273C Missense 8/11 -
1-43815009-G-T MPL c.1544G>T p.W515L Missense 10/12 -
17-7578212-G-A TP53 c.637C>T p.R213* Nonsense 6/11 -
17-7578190-T-C TP53 c.659A>G p.Y220C Missense 6/11 -
17-7578271-T-C TP53 c.578A>G p.H193R Missense 6/11 -
17-7578403-C-A TP53 c.527G>T p.C176F Missense 5/11 -
17-7577556-C-A TP53 c.725G>T p.C242F Missense 7/11 -
17-7577094-G-A TP53 c.844C>T p.R282W Missense 8/11 -
17-7577559-G-A TP53 c.722C>T p.S241F Missense 7/11 -
17-59924572-G-A BRIP1 c.517C>T p.R173C Missense 6/20 -
7-55241708-G-C EGFR c.2156G>C p.G719A Missense 18/28 -
3-178952085-A-G PIK3CA c.3140A>G p.H1047R Missense 21/21 -
17-7578239-C-A TP53 c.610G>T p.E204* Nonsense 6/11 -
11-108170506-A-C ATM c.5071A>C p.S1691R Missense 34/63 -
11-108119823-T-C ATM c.1229T>C p.V410A Missense 9/63 -
17-7577535-C-A TP53 c.746G>T p.R249M Missense 7/11 -
17-7579358-C-G TP53 c.329G>C p.R110P Missense 4/11 -
17-7578442-T-C TP53 c.488A>G p.Y163C Missense 5/11 -
13-32945172-A-C BRCA2 c.8567A>C p.E2856A Missense 20/27 -
3-41266101-C-G CTNNB1 c.98C>G p.S33C Missense 3/15 -
3-41266113-C-T CTNNB1 c.110C>T p.S37F Missense 3/15 -
10-89692904-C-T PTEN c.388C>T p.R130* Nonsense 5/9 -
16-72828890-T-C ZFHX3 c.7691A>G p.Q2564R Missense 9/10 -
17-7579528-C-T TP53 c.159G>A p.W53* Nonsense 4/11 -
12-25398262-C-A KRAS c.57G>T p.L19F Missense 2/5 -
17-7579313-G-A TP53 c.374C>T p.T125M Missense 4/11 -
9-21971120-G-A CDKN2A c.238C>T p.R80* Nonsense 2/3 -
3-178952090-G-C PIK3CA c.3145G>C p.G1049R Missense 21/21 -
3-178936082-G-A PIK3CA c.1624G>A p.E542K Missense 10/21 -
17-7577120-C-A TP53 c.818G>T p.R273L Missense 8/11 -
17-7577557-A-G TP53 c.724T>C p.C242R Missense 7/11 -
2-158622516-C-T ACVR1 c.983G>A p.G328E Missense 8/11 -
17-7574003-G-A TP53 c.1024C>T p.R342* Nonsense 10/11 -
12-25398281-C-A KRAS c.38G>T p.G13V Missense 2/5 -
17-7577518-T-A TP53 c.763A>T p.I255F Missense 7/11 -
17-7578211-C-A TP53 c.638G>T p.R213L Missense 6/11 -
17-7578394-T-C TP53 c.536A>G p.H179R Missense 5/11 -
19-1221995-C-T STK11 c.910C>T p.R304W Missense 7/10 -
17-7577082-C-T TP53 c.856G>A p.E286K Missense 8/11 -
17-7577067-T-A TP53 c.871A>T p.K291* Nonsense 8/11 -
17-7577538-C-A TP53 c.743G>T p.R248L Missense 7/11 -
17-7578479-G-A TP53 c.451C>T p.P151S Missense 5/11 -
17-7578457-C-A TP53 c.473G>T p.R158L Missense 5/11 -
17-7578518-C-G TP53 c.412G>C p.A138P Missense 5/11 -
5-112175951-G-GA APC c.4666_4666dupA p.T1556Nfs*3 Frameshift 16/16 -
2-209113112-C-A IDH1 c.395G>T p.R132L Missense 4/10 -
7-140453132-T-G BRAF c.1803A>C p.K601N Missense 15/18 -
4-1806131-T-C FGFR3 c.1150T>C p.F384L Missense 9/18 -
2-25457243-G-A DNMT3A c.2644C>T p.R882C Missense 23/23 -
7-140481411-C-T BRAF c.1397G>A p.G466E Missense 11/18 -
17-7577108-C-A TP53 c.830G>T p.C277F Missense 8/11 -
17-7577548-C-A TP53 c.733G>T p.G245C Missense 7/11 -
17-7578493-C-T TP53 c.437G>A p.W146* Nonsense 5/11 -
12-49448350-G-A KMT2D c.361C>T p.P121S Missense 4/55 -
11-69625374-G-A FGF3 c.419C>T p.T140M Missense 3/3 -
8-38275808-C-A FGFR1 c.1368G>T p.M456I Missense 10/18 -
2-198266834-T-C SF3B1 c.2098A>G p.K700E Missense 15/25 -
12-49416063-C-A KMT2D c.16412G>T p.R5471M Missense 53/55 -
22-38379518-C-G SOX10 c.274G>C p.V92L Missense 2/4 -
15-66729154-G-C MAP2K1 c.362G>C p.C121S Missense 3/11 -
6-41908122-G-A CCND3 c.400C>T p.P134S Missense 2/5 -
3-142297519-A-C ATR c.28T>G p.S10A Missense 1/47 -
21-44524456-G-A U2AF1 c.101C>T p.S34F Missense 2/8 -
17-7578457-C-G TP53 c.473G>C p.R158P Missense 5/11 -
17-7577153-C-A TP53 c.785G>T p.G262V Missense 8/11 -
17-7577551-C-A TP53 c.730G>T p.G244C Missense 7/11 -
7-55242465-GGAATTAAGA-G EGFR c.2239_2247delTTAAGAGAA p.L747_E749del InFrameDeletion 19/28 -
9-133738340-A-G ABL1 c.740A>G p.K247R Missense 4/11 -
17-7578394-T-A TP53 c.536A>T p.H179L Missense 5/11 -
17-7577141-C-A TP53 c.797G>T p.G266V Missense 8/11 -
7-140453193-T-A BRAF c.1742A>T p.N581I Missense 15/18 -
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 -
1-45798475-T-C MUTYH c.452A>G p.Y151C Missense 7/16 -
1-45797228-C-T MUTYH c.1103G>A p.G368D Missense 13/16 -
7-55249007-G-T EGFR c.2305G>T p.V769L Missense 20/28 -
2-198267359-C-G SF3B1 c.1998G>C p.K666N Missense 14/25 -
2-198267361-T-G SF3B1 c.1996A>C p.K666Q Missense 14/25 -
13-32968951-C-T BRCA2 c.9382C>T p.R3128* Nonsense 25/27 -
17-7577093-C-G TP53 c.845G>C p.R282P Missense 8/11 -
3-178936095-A-C PIK3CA c.1637A>C p.Q546P Missense 10/21 -
17-7578455-C-G TP53 c.475G>C p.A159P Missense 5/11 -
17-7578234-A-C TP53 c.615T>G p.Y205* Nonsense 6/11 -
17-7578525-G-C TP53 c.405C>G p.C135W Missense 5/11 -
9-21971186-G-A CDKN2A c.172C>T p.R58* Nonsense 2/3 -
17-37868208-C-T ERBB2 c.929C>T p.S310F Missense 8/27 -
17-7579313-G-C TP53 c.374C>G p.T125R Missense 4/11 -
12-25398280-G-C KRAS c.39C>G p.G13= Synonymous 2/5 -
17-7574002-C-G TP53 c.1025G>C p.R342P Missense 10/11 -
19-1207203-G-A STK11 c.290+1G>A - IntronicSNV - 1/9
14-38061099-G-A FOXA1 c.890C>T p.P297L Missense 2/2 -
17-41247890-C-T BRCA1 c.643G>A p.E215K Missense 9/23 -
17-7579366-G-T TP53 c.321C>A p.Y107* Nonsense 4/11 -
17-7578419-C-A TP53 c.511G>T p.E171* Nonsense 5/11 -
17-7578507-G-C TP53 c.423C>G p.C141W Missense 5/11 -
17-7577557-A-C TP53 c.724T>G p.C242G Missense 7/11 -
17-7577529-A-T TP53 c.752T>A p.I251N Missense 7/11 -
9-21971017-G-T CDKN2A c.341C>A p.P114H Missense 2/3 -
17-7578467-T-G TP53 c.463A>C p.T155P Missense 5/11 -
2-178098810-C-G NFE2L2 c.235G>C p.E79Q Missense 2/5 -
17-7577113-A-T TP53 c.825T>A p.C275* Nonsense 8/11 -
17-7579494-T-A TP53 c.193A>T p.R65* Nonsense 4/11 -
17-7577097-C-G TP53 c.841G>C p.D281H Missense 8/11 -
17-7577081-T-A TP53 c.857A>T p.E286V Missense 8/11 -
17-7577105-G-T TP53 c.833C>A p.P278H Missense 8/11 -
17-7577097-C-A TP53 c.841G>T p.D281Y Missense 8/11 -
17-7578536-T-C TP53 c.394A>G p.K132E Missense 5/11 -
7-140453149-C-T BRAF c.1786G>A p.G596S Missense 15/18 -
9-21971096-C-T CDKN2A c.262G>A p.E88K Missense 2/3 -
7-151878287-G-A KMT2C c.6658C>T p.Q2220* Nonsense 36/59 -
17-7576855-G-A TP53 c.991C>T p.Q331* Nonsense 9/11 -
22-23523285-G-T BCR c.138G>T p.E46D Missense 1/23 -
21-36206716-G-A RUNX1 c.796C>T p.Q266* Nonsense 7/9 -
6-26032006-C-A H3C2 c.283G>T p.E95* Nonsense 1/1 -
17-29562948-A-G NF1 c.3883A>G p.T1295A Missense 29/58 -
22-41521980-C-G EP300 c.842C>G p.S281* Nonsense 3/31 -
12-133253180-A-T POLE c.861T>A p.D287E Missense 9/49 -
2-128036921-G-A ERCC3 c.1558C>T p.R520W Missense 10/15 -
17-7577126-T-A TP53 c.812A>T p.E271V Missense 8/11 -
19-11143994-G-A SMARCA4 c.3575G>A p.R1192H Missense 26/35 -
19-1221243-G-T STK11 c.766G>T p.E256* Nonsense 6/10 -
17-7579856-A-G TP53 c.57T>C p.F19= Synonymous 2/11 -
17-7578253-C-T TP53 c.596G>A p.G199E Missense 6/11 -
17-58740479-C-T PPM1D c.1384C>T p.Q462* Nonsense 6/6 -
13-32914892-A-G BRCA2 c.6400A>G p.N2134D Missense 11/27 -
10-70451542-G-A TET1 c.6382G>A p.V2128I Missense 12/12 -
13-32930730-C-T BRCA2 c.7601C>T p.A2534V Missense 15/27 -
X-39922122-G-T BCOR c.4050C>A p.Y1350* Nonsense 9/15 -
9-21974695-G-C CDKN2A c.132C>G p.Y44* Nonsense 1/3 -
12-31944715-C-A H3-5 c.386G>T p.R129L Missense 1/1 -
13-103510638-A-G ERCC5 c.542A>G p.H181R Missense 6/15 -
8-48872534-C-A PRKDC c.153G>T p.L51= Synonymous 1/87 -
10-89720805-ACTTT-A PTEN c.956_959delCTTT p.T319Kfs*24 Frameshift 8/9 -
13-48878067-C-T RB1 c.19C>T p.R7* Nonsense 1/27 -
19-10610415-C-A KEAP1 c.295G>T p.V99L Missense 2/6 -
17-7578515-TG-T TP53 c.414delC p.K139Rfs*31 Frameshift 5/11 -
17-7579462-AG-A TP53 c.224delC p.P75Lfs*48 Frameshift 4/11 -
17-7579432-AG-A TP53 c.254delC p.P85Lfs*38 Frameshift 4/11 -
19-1221313-GC-G STK11 c.842delC p.P281Rfs*6 Frameshift 6/10 -
19-1207076-TG-T STK11 c.169delG p.E57Kfs*7 Frameshift 1/10 -
20-31022402-TCACCACTGCCATAGAGAGGCGGC-T ASXL1 c.1900_1922del23 p.E635Rfs*15 Frameshift 13/13 -
17-7577578-T-C TP53 c.703A>G p.N235D Missense 7/11 -
9-5126343-G-A JAK2 c.3188G>A p.R1063H Missense 24/25 -
15-99452002-A-G IGF1R c.1336A>G p.M446V Missense 6/21 -
2-17962005-C-G GEN1 c.1526C>G p.S509W Missense 14/14 -
17-7578476-G-A TP53 c.454C>T p.P152S Missense 5/11 -
16-3658545-C-A SLX4 c.421G>T p.G141W Missense 2/15 -
5-112178805-G-A APC c.7514G>A p.R2505Q Missense 16/16 -
11-108200991-G-C ATM c.7358G>C p.R2453P Missense 50/63 -
14-81558891-C-G TSHR c.484C>G p.P162A Missense 6/10 -
22-41513727-G-A EP300 c.631G>A p.G211S Missense 2/31 -
12-111856571-G-T SH2B3 c.622G>T p.E208* Nonsense 2/8 -
22-29130435-G-A CHEK2 c.275C>T p.P92L Missense 2/15 -
16-89865593-G-C FANCA c.874C>G p.H292D Missense 10/43 -
12-133249862-G-A POLE c.1361C>T p.T454I Missense 14/49 -
16-89857830-G-A FANCA c.1340C>T p.S447L Missense 14/43 -
17-41245888-C-A BRCA1 c.1660G>T p.E554* Nonsense 10/23 -
15-45003747-G-C B2M c.3G>C p.M1? Missense 1/4 -
15-45003746-T-A B2M c.2T>A p.M1? Missense 1/4 -
12-133237569-C-T POLE c.3046G>A p.V1016M Missense 25/49 -
1-11169374-T-C MTOR c.7501A>G p.I2501V Missense 56/58 -
7-2983958-T-C CARD11 c.572A>G p.N191S Missense 5/25 -
1-16258756-T-A SPEN c.6021T>A p.D2007E Missense 11/15 -
7-128852021-C-G SMO c.2093C>G p.P698R Missense 12/12 -
17-66518940-G-A PRKAR1A c.221G>A p.R74H Missense 3/11 -
20-46275917-A-C NCOA3 c.3353A>C p.Q1118P Missense 18/23 -
11-108218035-C-A ATM c.8614C>A p.H2872N Missense 59/63 -
15-45003780-ACT-A B2M c.43_44delCT p.L15Ffs*41 Frameshift 1/4 -
7-140508767-C-T BRAF c.533G>A p.R178Q Missense 4/18 -
18-42532027-G-A SETBP1 c.2722G>A p.D908N Missense 4/6 -
19-10602581-C-T KEAP1 c.997G>A p.G333S Missense 3/6 -
1-27101273-C-T ARID1A c.4555C>T p.Q1519* Nonsense 18/20 -
19-1221313-G-GC STK11 c.842dupC p.L282Afs*3 Frameshift 6/10 -
17-7579419-AG-A TP53 c.267delC p.S90Pfs*33 Frameshift 4/11 -
19-1207092-CG-C STK11 c.182delG p.G61Afs*3 Frameshift 1/10 -
1-27105930-TG-T ARID1A c.5548delG p.D1850Tfs*33 Frameshift 20/20 -
12-121432117-G-GC HNF1A c.872dupC p.G292Rfs*25 Frameshift 4/10 -
9-21974695-CG-C CDKN2A c.132delC p.Y44* Frameshift 1/3 -
12-133202789-G-A POLE c.6445C>T p.R2149C Missense 46/49 -
11-108236216-G-T ATM c.9152G>T p.G3051V Missense 63/63 -
12-133201381-T-A POLE c.6763A>T p.I2255F Missense 49/49 -
22-23634790-G-A BCR c.2845G>A p.V949I Missense 15/23 -
2-109384167-C-G RANBP2 c.7172C>G p.T2391S Missense 20/29 -
16-72822012-TGCTGCTGCTGCTGTAGTTGCC-T ZFHX3 c.10142_10162del21 p.R3381_Q3387del InFrameDeletion 10/10 -
13-103519037-C-T ERCC5 c.2375C>T p.A792V Missense 11/15 -
X-47028898-G-T RBM10 c.201+1G>T - IntronicSNV - 3/23
13-48881512-G-A RB1 c.234G>A p.W78* Nonsense 2/27 -
1-155880244-T-C RIT1 c.160A>G p.I54V Missense 3/6 -
3-47164514-C-A SETD2 c.1612G>T p.G538* Nonsense 3/21 -
19-1207009-G-T STK11 c.97G>T p.E33* Nonsense 1/10 -
16-30128265-C-T MAPK3 c.967G>A p.E323K Missense 7/9 -
1-27059266-A-T ARID1A c.1903A>T p.R635* Nonsense 4/20 -
17-29483087-C-A NF1 c.147C>A p.Y49* Nonsense 2/58 -
9-21974695-G-T CDKN2A c.132C>A p.Y44* Nonsense 1/3 -
19-10610436-G-A KEAP1 c.274C>T p.Q92* Nonsense 2/6 -
7-55224270-A-G EGFR c.1051A>G p.I351V Missense 9/28 -
7-151945083-C-T KMT2C c.2436G>A p.M812I Missense 14/59 -
4-106157023-C-T TET2 c.1924C>T p.Q642* Nonsense 3/11 -
19-10602745-G-A KEAP1 c.833C>T p.P278L Missense 3/6 -
18-48604652-G-T SMAD4 c.1474G>T p.V492F Missense 12/12 -
16-2121856-C-T TSC2 c.2018C>T p.A673V Missense 19/42 -
12-49433060-G-A KMT2D c.8311C>T p.R2771* Nonsense 34/55 -
9-21970979-C-G CDKN2A c.379G>C p.A127P Missense 2/3 -
12-57485455-C-T NAB2 c.631C>T p.P211S Missense 2/7 -
1-204518437-C-T MDM4 c.1100C>T p.S367L Missense 11/11 -
10-103542065-C-A NPM3 c.368G>T p.R123L Missense 4/6 -
15-42019398-G-T MGA c.3451G>T p.E1151* Nonsense 10/24 -
19-11141453-G-T SMARCA4 c.3430G>T p.E1144* Nonsense 25/35 -
9-37002659-C-T PAX5 c.590G>A p.R197H Missense 5/10 -
16-89348451-TGCTCGTCCCTGTGATGCCGCAGGA-T ANKRD11 c.4475_4498del24 p.L1492_E1499del InFrameDeletion 9/13 -
2-141250260-C-A LRP1B c.9037G>T p.E3013* Nonsense 57/91 -
2-48010560-C-T MSH6 c.188C>T p.S63F Missense 1/10 -
17-7579494-TG-T TP53 c.192delC p.R65Efs*58 Frameshift 4/11 -
6-161469920-A-G MAP3K4 c.616A>G p.I206V Missense 3/27 -
4-20255583-G-A SLIT2 c.145G>A p.V49M Missense 1/37 -
17-7579906-C-A TP53 c.7G>T p.E3* Nonsense 2/11 -
17-41246527-C-T BRCA1 c.1021G>A p.D341N Missense 10/23 -
19-1219381-G-T STK11 c.433G>T p.E145* Nonsense 3/10 -
16-72992667-C-T ZFHX3 c.1378G>A p.E460K Missense 2/10 -
17-7577148-G-C TP53 c.790C>G p.L264V Missense 8/11 -
16-3900638-G-A CREBBP c.458C>T p.P153L Missense 2/31 -
16-89858407-G-A FANCA c.1153C>T p.H385Y Missense 13/43 -
5-131940620-C-T RAD50 c.2647C>T p.R883C Missense 16/25 -
7-140477836-G-A BRAF c.1472C>T p.T491I Missense 12/18 -
17-78858865-A-G RPTOR c.1900A>G p.T634A Missense 17/34 -
5-79974885-C-T MSH3 c.1313C>T p.A438V Missense 8/24 -
22-30035098-C-G NF2 c.260C>G p.S87* Nonsense 3/16 -
2-141680684-C-A LRP1B c.3169G>T p.E1057* Nonsense 21/91 -
2-141528458-G-T LRP1B c.5618C>A p.S1873* Nonsense 34/91 -
X-100604929-G-A BTK c.1924C>T p.P642S Missense 19/19 -
5-86628380-C-G RASA1 c.749C>G p.S250* Nonsense 3/25 -
1-158583603-G-T SPTA1 c.6897C>A p.C2299* Nonsense 50/52 -
19-2222523-C-T DOT1L c.3355C>T p.Q1119* Nonsense 24/28 -
1-158590067-C-A SPTA1 c.6310G>T p.E2104* Nonsense 44/52 -
9-21971198-T-C CDKN2A c.160A>G p.M54V Missense 2/3 -
2-25463266-G-A DNMT3A c.2227C>T p.P743S Missense 19/23 -
9-139401234-G-A NOTCH1 c.3835C>T p.R1279C Missense 23/34 -
7-55242479-CAACATCTCCGAA-C EGFR c.2251_2262del12 p.T751_K754del InFrameDeletion 19/28 -
2-141607670-C-A LRP1B c.4939+1G>T - IntronicSNV - 29/90
19-1207042-A-T STK11 c.130A>T p.K44* Nonsense 1/10 -
19-1222006-G-T STK11 c.920+1G>T - IntronicSNV - 7/9
18-48591933-C-T SMAD4 c.1096C>T p.Q366* Nonsense 9/12 -
6-26056236-CCTTCTTGGG-C H1-2 c.412_420delCCCAAGAAG p.P138_K140del InFrameDeletion 1/1 -
9-5462929-G-A CD274 c.490G>A p.E164K Missense 4/7 -
5-112176719-G-T APC c.5428G>T p.D1810Y Missense 16/16 -
7-151876977-G-A KMT2C c.7384C>T p.Q2462* Nonsense 37/59 -
19-1650226-C-A TCF3 c.22G>T p.A8S Missense 2/19 -
2-25462012-G-C DNMT3A c.2395C>G p.P799A Missense 20/23 -
2-178098959-T-A NFE2L2 c.86A>T p.D29V Missense 2/5 -
1-27106482-T-A ARID1A c.6093T>A p.Y2031* Nonsense 20/20 -
9-97863997-G-A FANCC c.1669C>T p.Q557* Nonsense 15/15 -
7-140534447-T-A BRAF c.466A>T p.I156F Missense 3/18 -
17-29653064-G-T NF1 c.5062G>T p.E1688* Nonsense 37/58 -
1-27097665-C-G ARID1A c.3254C>G p.S1085* Nonsense 12/20 -
1-16203058-C-T SPEN c.766C>T p.Q256* Nonsense 3/15 -
19-4117503-C-T MAP2K2 c.217G>A p.E73K Missense 2/11 -
16-81965113-C-G PLCG2 c.2593C>G p.Q865E Missense 25/33 -
16-89882317-T-G FANCA c.157A>C p.S53R Missense 2/43 -
9-135776115-G-C TSC1 c.2612C>G p.S871* Nonsense 20/23 -
19-10597431-C-T KEAP1 c.1772G>A p.W591* Nonsense 6/6 -
1-16258302-A-G SPEN c.5567A>G p.N1856S Missense 11/15 -
19-11170528-G-T SMARCA4 c.4735G>T p.E1579* Nonsense 33/35 -
9-139391458-C-T NOTCH1 c.6733G>A p.G2245R Missense 34/34 -
10-70333117-C-T TET1 c.1022C>T p.A341V Missense 2/12 -
19-11141501-G-A SMARCA4 c.3478G>A p.G1160R Missense 25/35 -
10-43608369-G-A RET c.1717G>A p.V573M Missense 9/20 -
9-110250518-G-A KLF4 c.157C>T p.R53* Nonsense 3/5 -
8-48817439-T-C PRKDC c.3032A>G p.E1011G Missense 26/87 -
17-41228614-T-A BRCA1 c.4375A>T p.K1459* Nonsense 13/23 -
15-91295097-G-A BLM c.880G>A p.D294N Missense 4/22 -
7-140477798-C-T BRAF c.1510G>A p.V504I Missense 12/18 -
12-49427315-G-A KMT2D c.11173C>T p.Q3725* Nonsense 40/55 -
2-141777525-G-A LRP1B c.1936C>T p.H646Y Missense 12/91 -
8-41790108-C-T KAT6A c.5630G>A p.R1877H Missense 17/17 -
8-68995496-A-G PREX2 c.1900A>G p.K634E Missense 18/40 -
3-134911523-G-A EPHB1 c.1988G>A p.R663Q Missense 11/16 -
3-187447231-G-A BCL6 c.962C>T p.A321V Missense 5/10 -
16-72828265-G-A ZFHX3 c.8316C>T p.H2772= Synonymous 9/10 -
3-47143009-T-TA SETD2 c.4953dupT p.T1652Yfs*14 Frameshift 8/21 -
13-32900405-C-T BRCA2 c.502C>T p.P168S Missense 6/27 -
17-7578474-GC-G TP53 c.456delG p.G154Afs*16 Frameshift 5/11 -
14-81609994-G-A TSHR c.1592G>A p.R531Q Missense 10/10 -
19-18273884-G-A PIK3R2 c.1217G>A p.R406H Missense 10/16 -
17-7574024-GC-G TP53 c.1002delG p.R335Vfs*10 Frameshift 10/11 -
19-17942209-C-G JAK3 c.2806G>C p.G936R Missense 21/24 -
19-42383351-G-A CD79A c.371G>A p.R124H Missense 2/5 -
12-57537494-C-T LRP1 c.361C>T p.Q121* Nonsense 4/89 -
19-50910342-G-A POLD1 c.1597G>A p.V533M Missense 13/27 -
13-108863100-G-A LIG4 c.517C>T p.Q173* Nonsense 3/3 -
11-108150318-G-A ATM c.3385G>A p.E1129K Missense 23/63 -
17-7579439-G-C TP53 c.248C>G p.A83G Missense 4/11 -
16-396233-C-A AXIN1 c.793G>T p.G265* Nonsense 2/11 -
17-7217871-TCTTC-T GPS2 c.136_139delGAAG p.E46Nfs*16 Frameshift 3/11 -
19-1207186-G-A STK11 c.274G>A p.E92K Missense 1/10 -
11-108205781-C-T ATM c.8096C>T p.P2699L Missense 55/63 -
2-141093334-G-A LRP1B c.11966C>T p.S3989F Missense 78/91 -
2-141526877-C-T LRP1B c.5663G>A p.G1888E Missense 35/91 -
11-108163354-G-T ATM c.4445G>T p.C1482F Missense 30/63 -
13-48916850-G-C RB1 c.380G>C p.S127T Missense 3/27 -
20-31022655-TC-T ASXL1 c.2142delC p.R715Efs*10 Frameshift 13/13 -
2-141739753-G-A LRP1B c.2863C>T p.Q955* Nonsense 18/91 -
21-44514844-A-G U2AF1 c.403T>C p.F135L Missense 6/8 -
19-11144050-G-T SMARCA4 c.3631G>T p.E1211* Nonsense 26/35 -
19-11145783-C-A SMARCA4 c.4145C>A p.S1382* Nonsense 29/35 -
7-151878676-G-C KMT2C c.6269C>G p.S2090* Nonsense 36/59 -
4-187524927-G-A FAT1 c.10753C>T p.Q3585* Nonsense 19/27 -
4-106180908-TG-T TET2 c.3940delG p.D1314Mfs*49 Frameshift 7/11 -
X-63411395-C-A AMER1 c.1772G>T p.R591M Missense 2/2 -