PMID: 36755027

Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature communications
Hong, Lingzhi L, Aminu, Muhammad M, Li, Shenduo S, Lu, Xuetao X, Petranovic, Milena M, Saad, Maliazurina B MB, Chen, Pingjun P, Qin, Kang K, Varghese, Susan S, Rinsurongkawong, Waree W, Rinsurongkawong, Vadeerat V, Spelman, Amy A, Elamin, Yasir Y YY, Negrao, Marcelo V MV, Skoulidis, Ferdinandos F, Gay, Carl M CM, Cascone, Tina T, Gandhi, Saumil J SJ, Lin, Steven H SH, Lee, Percy P PP, Carter, Brett W BW, Wu, Carol C CC, Antonoff, Mara B MB, Sepesi, Boris B, Lewis, Jeff J, Gibbons, Don L DL, Vaporciyan, Ara A AA, Le, Xiuning X, Jack Lee, J J, Roy-Chowdhuri, Sinchita S, Routbort, Mark J MJ, Gainor, Justin F JF, Heymach, John V JV, Lou, Yanyan Y, Wu, Jia J, Zhang, Jianjun J, Vokes, Natalie I NI
2023-02-08

2129 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-108178663-C-A ATM c.5714C>A p.S1905* Nonsense 38/63 -
11-108155174-A-G ATM c.3967A>G p.K1323E Missense 26/63 -
19-17945770-C-T JAK3 c.2090G>A p.R697Q Missense 16/24 -
10-89720840-G-C PTEN c.991G>C p.D331H Missense 8/9 -
13-49033964-G-A RB1 c.2101G>A p.D701N Missense 20/27 -
1-27097634-G-T ARID1A c.3223G>T p.E1075* Nonsense 12/20 -
1-27088682-C-T ARID1A c.2291C>T p.S764F Missense 7/20 -
7-77789528-G-A MAGI2 c.2659C>T p.R887C Missense 16/22 -
19-1221293-C-A STK11 c.816C>A p.Y272* Nonsense 6/10 -
10-123279613-G-A FGFR2 c.819C>T p.D273= Synonymous 7/18 -
6-152382190-C-T ESR1 c.1300C>T p.R434W Missense 6/8 -
11-108114845-G-T ATM c.662G>T p.R221I Missense 6/63 -
9-135801080-C-T TSC1 c.257G>A p.R86H Missense 5/23 -
11-108218041-C-T ATM c.8620C>T p.Q2874* Nonsense 59/63 -
X-47426132-G-A ARAF c.652G>A p.V218I Missense 7/16 -
7-55268976-C-T EGFR c.3042C>T p.D1014= Synonymous 25/28 -
7-55268958-C-T EGFR c.3024C>T p.D1008= Synonymous 25/28 -
8-128753100-G-A MYC c.1261G>A p.V421I Missense 3/3 -
17-29486092-T-C NF1 c.269T>C p.L90P Missense 3/58 -
4-55133560-C-T PDGFRA c.864C>T p.Y288= Synonymous 6/23 -
11-533477-G-T HRAS c.426C>A p.I142= Synonymous 4/6 -
11-533477-G-A HRAS c.426C>T p.I142= Synonymous 4/6 -
15-88472566-G-T NTRK3 c.1989C>A p.I663= Synonymous 17/20 -
15-88472566-G-A NTRK3 c.1989C>T p.I663= Synonymous 17/20 -
7-116414961-G-A MET c.3055G>A p.G1019S Missense 15/21 -
17-7578474-GC-G TP53 c.456delG p.G154Afs*16 Frameshift 5/11 -
17-7579582-C-CA TP53 c.104dupT p.L35Ffs*8 Frameshift 4/11 -
17-29652975-TTCTC-T NF1 c.4977_4980delCTCT p.K1661Gfs*36 Frameshift 37/58 -
17-29683983-C-CA NF1 c.7745dupA p.R2583Efs*13 Frameshift 53/58 -
19-1221283-AG-A STK11 c.810delG p.S271Afs*16 Frameshift 6/10 -
17-7579441-CG-C TP53 c.245delC p.P82Rfs*41 Frameshift 4/11 -
15-66774159-G-A MAP2K1 c.635G>A p.S212N Missense 6/11 -
3-178942495-G-C PIK3CA c.2302G>C p.E768Q Missense 16/21 -
4-55593998-T-C KIT c.1784T>C p.L595P Missense 12/21 -
11-108225590-A-G ATM c.8839A>G p.T2947A Missense 61/63 -
4-55598048-G-C KIT c.2245G>C p.E749Q Missense 16/21 -
1-156843670-C-T NTRK1 c.1096C>T p.P366S Missense 8/17 -
3-178919188-A-G PIK3CA c.673A>G p.I225V Missense 4/21 -
17-29533342-A-T NF1 c.1345A>T p.K449* Nonsense 12/58 -
12-4385251-G-A CCND2 c.276G>A p.P92= Synonymous 2/5 -
9-21974730-CCAG-C CDKN2A c.94_96delCTG p.L32del InFrameDeletion 1/3 -
10-123276957-C-T FGFR2 c.960G>A p.T320= Synonymous 8/18 -
8-128750738-T-C MYC c.275T>C p.V92A Missense 2/3 -
11-108155138-C-T ATM c.3931C>T p.Q1311* Nonsense 26/63 -
8-133898822-C-G TG c.1205C>G p.A402G Missense 9/48 -
7-128846380-G-A SMO c.1216G>A p.A406T Missense 6/12 -
19-1219330-G-A STK11 c.382G>A p.V128M Missense 3/10 -
19-1207186-G-A STK11 c.274G>A p.E92K Missense 1/10 -
13-48947542-A-T RB1 c.1129A>T p.T377S Missense 12/27 -
19-1221285-G-A STK11 c.808G>A p.G270R Missense 6/10 -
10-43609980-C-G RET c.1932C>G p.F644L Missense 11/20 -
10-89624282-A-T PTEN c.56A>T p.D19V Missense 1/9 -
10-43617439-C-T RET c.2776C>T p.H926Y Missense 16/20 -
18-48593477-C-T SMAD4 c.1228C>T p.Q410* Nonsense 10/12 -
4-1806145-G-T FGFR3 c.1164G>T p.L388= Synonymous 9/18 -
4-1806145-G-A FGFR3 c.1164G>A p.L388= Synonymous 9/18 -
4-1806145-G-C FGFR3 c.1164G>C p.L388= Synonymous 9/18 -
4-1806143-C-T FGFR3 c.1162C>T p.L388= Synonymous 9/18 -
7-55224276-G-A EGFR c.1057G>A p.A353T Missense 9/28 -
11-108201017-T-C ATM c.7384T>C p.F2462L Missense 50/63 -
4-55144664-C-T PDGFRA c.2138C>T p.A713V Missense 15/23 -
3-12650279-G-C RAF1 c.567C>G p.N189K Missense 5/17 -
15-66729198-G-A MAP2K1 c.406G>A p.D136N Missense 3/11 -
22-22123603-C-T MAPK1 c.973G>A p.A325T Missense 8/9 -
7-55224474-C-T EGFR c.1156C>T p.P386S Missense 10/28 -
7-55229254-A-G EGFR c.1561A>G p.R521G Missense 13/28 -
1-27087944-C-A ARID1A c.2231C>A p.S744* Nonsense 6/20 -
1-27087944-C-G ARID1A c.2231C>G p.S744* Nonsense 6/20 -
11-108117760-G-A ATM c.971G>A p.S324N Missense 8/63 -
17-37881588-C-G ERBB2 c.2658C>G p.I886M Missense 22/27 -
8-38279367-C-T FGFR1 c.1029G>A p.A343= Synonymous 8/18 -
8-38279367-C-G FGFR1 c.1029G>C p.A343= Synonymous 8/18 -
8-38279367-C-A FGFR1 c.1029G>T p.A343= Synonymous 8/18 -
5-112175690-C-T APC c.4399C>T p.P1467S Missense 16/16 -
13-32911711-G-A BRCA2 c.3219G>A p.Q1073= Synonymous 11/27 -
13-32907375-C-G BRCA2 c.1760C>G p.T587R Missense 10/27 -
13-32907122-A-T BRCA2 c.1507A>T p.K503* Nonsense 10/27 -
1-27106808-C-T ARID1A c.6419C>T p.P2140L Missense 20/20 -
1-11316237-G-A MTOR c.517C>T p.R173C Missense 5/58 -
9-139403432-C-T NOTCH1 c.3061G>A p.D1021N Missense 19/34 -
17-29585516-C-T NF1 c.4328C>T p.S1443L Missense 32/58 -
22-22153375-C-T MAPK1 c.535G>A p.D179N Missense 4/9 -
5-112173859-C-T APC c.2568C>T p.R856= Synonymous 16/16 -
1-27089725-C-T ARID1A c.2681C>T p.T894I Missense 8/20 -
1-162724523-C-G DDR2 c.295C>G p.L99V Missense 5/18 -
1-27023663-G-T ARID1A c.769G>T p.A257S Missense 1/20 -
1-27057646-C-A ARID1A c.1354C>A p.P452T Missense 3/20 -
1-27058025-C-T ARID1A c.1733C>T p.A578V Missense 3/20 -
1-27097736-C-T ARID1A c.3325C>T p.R1109W Missense 12/20 -
1-27092857-G-A ARID1A c.2878G>A p.G960R Missense 9/20 -
1-27099457-C-T ARID1A c.3694C>T p.P1232S Missense 14/20 -
1-27100151-C-T ARID1A c.3947C>T p.S1316L Missense 16/20 -
1-27101480-C-T ARID1A c.4762C>T p.P1588S Missense 18/20 -
4-55592160-A-G KIT c.1484A>G p.N495S Missense 9/21 -
17-29509684-G-T NF1 c.888+1G>T - IntronicSNV - 8/57
9-139411783-C-A NOTCH1 c.1496G>T p.C499F Missense 9/34 -
7-140624379-G-T BRAF c.125C>A p.A42D Missense 1/18 -
7-55249013-AAC-CATCAT EGFR c.2311_2313delinsCATCAT p.N771delinsHH MultiAAMissense 20/28 -
9-139411786-G-C NOTCH1 c.1493C>G p.P498R Missense 9/34 -
17-29546131-A-G NF1 c.1636A>G p.M546V Missense 14/58 -
7-55272985-G-A EGFR c.3308G>A p.G1103D Missense 28/28 -
17-29541529-G-T NF1 c.1453G>T p.E485* Nonsense 13/58 -
13-32907433-G-T BRCA2 c.1818G>T p.P606= Synonymous 10/27 -
19-1221998-C-T STK11 c.913C>T p.Q305* Nonsense 7/10 -
13-32911595-G-A BRCA2 c.3103G>A p.E1035K Missense 11/27 -
5-112174571-G-T APC c.3280G>T p.G1094* Nonsense 16/16 -
19-1221956-G-T STK11 c.871G>T p.E291* Nonsense 7/10 -
11-108196928-G-C ATM c.6951G>C p.K2317N Missense 47/63 -
7-55268962-G-T EGFR c.3028G>T p.V1010L Missense 25/28 -
13-32915310-G-A BRCA2 c.6818G>A p.R2273K Missense 11/27 -
17-41243920-C-G BRCA1 c.3628G>C p.E1210Q Missense 10/23 -
7-55210019-T-A EGFR c.129T>A p.T43= Synonymous 2/28 -
7-55210019-T-C EGFR c.129T>C p.T43= Synonymous 2/28 -
4-55594249-T-G KIT c.1952T>G p.M651R Missense 13/21 -
4-55594285-G-A KIT c.1988G>A p.G663E Missense 13/21 -
19-1220717-G-C STK11 c.734+1G>C - IntronicSNV - 5/9
4-55564616-G-A KIT c.504G>A p.A168= Synonymous 3/21 -
4-55564616-G-C KIT c.504G>C p.A168= Synonymous 3/21 -
4-55564616-G-T KIT c.504G>T p.A168= Synonymous 3/21 -
1-156843542-A-G NTRK1 c.968A>G p.N323S Missense 8/17 -
13-32907433-G-C BRCA2 c.1818G>C p.P606= Synonymous 10/27 -
7-55233081-G-C EGFR c.1831G>C p.A611P Missense 15/28 -
8-128748861-G-T MYC c.22G>T p.E8* Nonsense 1/3 -
8-128750604-C-A MYC c.141C>A p.Y47* Nonsense 2/3 -
8-128750604-C-G MYC c.141C>G p.Y47* Nonsense 2/3 -
8-128750722-C-G MYC c.259C>G p.P87A Missense 2/3 -
1-27057991-C-T ARID1A c.1699C>T p.Q567* Nonsense 3/20 -
8-128751217-C-G MYC c.754C>G p.P252A Missense 2/3 -
8-128752999-G-A MYC c.1160G>A p.R387Q Missense 3/3 -
3-41266217-C-G CTNNB1 c.214C>G p.Q72E Missense 3/15 -
4-55144617-C-G PDGFRA c.2091C>G p.H697Q Missense 15/23 -
4-55593612-G-T KIT c.1678G>T p.V560F Missense 11/21 -
10-123325077-C-T FGFR2 c.251G>A p.R84K Missense 3/18 -
5-112178396-C-T APC c.7105C>T p.P2369S Missense 16/16 -
7-55240688-G-T EGFR c.1932G>T p.P644= Synonymous 17/28 -
7-55240688-G-A EGFR c.1932G>A p.P644= Synonymous 17/28 -
7-55240688-G-C EGFR c.1932G>C p.P644= Synonymous 17/28 -
17-41244009-C-T BRCA1 c.3539G>A p.S1180N Missense 10/23 -
9-139391829-C-T NOTCH1 c.6362G>A p.S2121N Missense 34/34 -
17-29654521-G-T NF1 c.5273G>T p.G1758V Missense 38/58 -
19-1219408-C-G STK11 c.460C>G p.H154D Missense 3/10 -
4-55594242-A-T KIT c.1945A>T p.N649Y Missense 13/21 -
4-55594278-A-G KIT c.1981A>G p.T661A Missense 13/21 -
4-55594287-G-T KIT c.1990G>T p.G664W Missense 13/21 -
10-43615535-C-A RET c.2614C>A p.H872N Missense 15/20 -
10-43615631-TC-AT RET c.2710_2711delTCinsAT p.S904I Missense 15/20 -
4-55602980-C-T KIT c.2690C>T p.A897V Missense 19/21 -
4-55603424-A-C KIT c.2780A>C p.Q927P Missense 20/21 -
4-55603432-G-C KIT c.2788G>C p.E930Q Missense 20/21 -
19-1207051-GG-TT STK11 c.139_140delGGinsTT p.G47F Missense 1/10 -
19-1207076-T-C STK11 c.164T>C p.L55P Missense 1/10 -
19-1207082-A-T STK11 c.170A>T p.E57V Missense 1/10 -
19-1219372-A-T STK11 c.424A>T p.S142C Missense 3/10 -
19-1220410-A-C STK11 c.503A>C p.H168P Missense 4/10 -
12-112926945-T-G PTPN11 c.1565T>G p.I522S Missense 13/16 -
19-1220455-T-C STK11 c.548T>C p.L183P Missense 4/10 -
10-43612090-A-G RET c.2195A>G p.E732G Missense 12/20 -
19-1220703-GC-AA STK11 c.721_722delGCinsAA p.A241N Missense 5/10 -
17-41246543-G-T BRCA1 c.1005C>A p.S335R Missense 10/23 -
13-32906996-G-A BRCA2 c.1381G>A p.E461K Missense 10/27 -
7-55219006-C-G EGFR c.579C>G p.S193R Missense 5/28 -
7-55219006-C-A EGFR c.579C>A p.S193R Missense 5/28 -
7-55219004-A-C EGFR c.577A>C p.S193R Missense 5/28 -
17-41245174-C-T BRCA1 c.2374G>A p.G792R Missense 10/23 -
13-32905086-G-C BRCA2 c.712G>C p.E238Q Missense 9/27 -
9-139412697-C-A NOTCH1 c.1147G>T p.E383* Nonsense 7/34 -
13-32906774-G-A BRCA2 c.1159G>A p.V387I Missense 10/27 -
13-32913312-T-C BRCA2 c.4820T>C p.I1607T Missense 11/27 -
13-32929041-G-T BRCA2 c.7051G>T p.A2351S Missense 14/27 -
13-32932029-T-A BRCA2 c.7768T>A p.S2590T Missense 16/27 -
13-32937416-A-G BRCA2 c.8077A>G p.I2693V Missense 18/27 -
13-32937533-T-G BRCA2 c.8194T>G p.L2732V Missense 18/27 -
13-32944641-G-A BRCA2 c.8434G>A p.G2812R Missense 19/27 -
9-139391716-G-A NOTCH1 c.6475C>T p.R2159C Missense 34/34 -
17-29588790-G-T NF1 c.4639G>T p.G1547C Missense 35/58 -
1-27105679-G-T ARID1A c.5290G>T p.E1764* Nonsense 20/20 -
5-38991102-G-A RICTOR c.532C>T p.Q178* Nonsense 7/38 -
9-135786955-C-T TSC1 c.914G>A p.G305E Missense 10/23 -
1-11288886-G-A MTOR c.2869C>T p.R957W Missense 19/58 -
12-121431489-G-T HNF1A c.693G>T p.T231= Synonymous 3/10 -
11-108124684-C-T ATM c.2042C>T p.S681F Missense 13/63 -
7-140476802-G-A BRAF c.1604C>T p.S535F Missense 13/18 -
9-139405157-C-A NOTCH1 c.2688G>T p.Q896H Missense 17/34 -
11-108206624-G-T ATM c.8204G>T p.C2735F Missense 56/63 -
7-116339458-T-C MET c.320T>C p.L107S Missense 2/21 -
19-30313370-A-G CCNE1 c.970A>G p.I324V Missense 11/12 -
17-37676290-A-T CDK12 c.3045A>T p.L1015= Synonymous 11/14 -
17-37676290-A-G CDK12 c.3045A>G p.L1015= Synonymous 11/14 -
17-37676290-A-C CDK12 c.3045A>C p.L1015= Synonymous 11/14 -
17-37676288-C-T CDK12 c.3043C>T p.L1015= Synonymous 11/14 -
9-21971024-G-A CDKN2A c.334C>T p.R112C Missense 2/3 -
5-112177487-A-G APC c.6196A>G p.R2066G Missense 16/16 -
17-7577023-CT-C TP53 c.914delA p.K305Sfs*40 Frameshift 8/11 -
17-7578252-TC-T TP53 c.596delG p.G199Efs*48 Frameshift 6/11 -
17-29652977-TC-T NF1 c.4975delC p.L1659Sfs*39 Frameshift 37/58 -
7-116435721-G-T MET c.3811G>T p.V1271L Missense 20/21 -
17-41243501-C-G BRCA1 c.4047G>C p.T1349= Synonymous 10/23 -
13-48947543-C-G RB1 c.1130C>G p.T377S Missense 12/27 -
8-38273457-G-A FGFR1 c.1785C>T p.L595= Synonymous 13/18 -
8-38273457-G-C FGFR1 c.1785C>G p.L595= Synonymous 13/18 -
8-38273457-G-T FGFR1 c.1785C>A p.L595= Synonymous 13/18 -
1-27023559-A-C ARID1A c.665A>C p.Y222S Missense 1/20 -
8-128753064-G-A MYC c.1225G>A p.V409I Missense 3/3 -
5-112154874-G-T APC c.1145G>T p.R382M Missense 10/16 -
9-135779103-G-A TSC1 c.2143C>T p.R715W Missense 17/23 -
1-27106900-C-T ARID1A c.6511C>T p.L2171= Synonymous 20/20 -
7-55269465-A-T EGFR c.3152A>T p.D1051V Missense 26/28 -
9-139391254-G-A NOTCH1 c.6937C>T p.R2313W Missense 34/34 -
10-43610099-C-T RET c.2051C>T p.P684L Missense 11/20 -
7-128846369-G-A SMO c.1205G>A p.G402D Missense 6/12 -
1-11272859-G-A MTOR c.3392C>T p.S1131F Missense 22/58 -
X-47428167-C-A ARAF c.1127C>A p.P376Q Missense 11/16 -
1-120458301-C-A NOTCH2 c.7044G>T p.L2348F Missense 34/34 -
1-27089608-C-T ARID1A c.2564C>T p.P855L Missense 8/20 -
15-66727407-G-C MAP2K1 c.123G>C p.E41D Missense 2/11 -
15-66727407-G-T MAP2K1 c.123G>T p.E41D Missense 2/11 -
13-32912048-G-T BRCA2 c.3556G>T p.V1186F Missense 11/27 -
17-29654550-G-T NF1 c.5302G>T p.E1768* Nonsense 38/58 -
4-55561699-G-T KIT c.89G>T p.S30I Missense 2/21 -
12-4398062-C-A CCND2 c.626C>A p.A209E Missense 4/5 -
3-134960075-G-A EPHB1 c.2432G>A p.G811E Missense 13/16 -
17-29508761-G-A NF1 c.688G>A p.E230K Missense 7/58 -
9-139413223-G-A NOTCH1 c.919C>T p.Q307* Nonsense 6/34 -
13-32936710-G-A BRCA2 c.7856G>A p.W2619* Nonsense 17/27 -
1-27087476-C-T ARID1A c.2050C>T p.H684Y Missense 5/20 -
9-21974726-GCCT-G CDKN2A c.98_100delAGG p.E33del InFrameDeletion 1/3 -
4-55129962-G-A PDGFRA c.496G>A p.G166R Missense 4/23 -
4-55129962-G-C PDGFRA c.496G>C p.G166R Missense 4/23 -
13-32972564-G-C BRCA2 c.9914G>C p.G3305A Missense 27/27 -
13-32911124-G-T BRCA2 c.2632G>T p.D878Y Missense 11/27 -
13-32911332-T-C BRCA2 c.2840T>C p.L947S Missense 11/27 -
3-178916932-A-T PIK3CA c.319A>T p.N107Y Missense 2/21 -
13-32911808-A-T BRCA2 c.3316A>T p.S1106C Missense 11/27 -
11-108202231-A-G ATM c.7576A>G p.R2526G Missense 51/63 -
17-41226500-C-G BRCA1 c.4523G>C p.W1508S Missense 14/23 -
13-32912436-G-C BRCA2 c.3944G>C p.R1315T Missense 11/27 -
17-41234546-A-T BRCA1 c.4232T>A p.M1411K Missense 12/23 -
13-32913078-G-A BRCA2 c.4586G>A p.G1529E Missense 11/27 -
17-41243577-A-G BRCA1 c.3971T>C p.M1324T Missense 10/23 -
17-41243778-T-G BRCA1 c.3770A>C p.E1257A Missense 10/23 -
17-41244229-C-T BRCA1 c.3319G>A p.E1107K Missense 10/23 -
13-32914034-A-T BRCA2 c.5542A>T p.S1848C Missense 11/27 -
13-32914310-G-T BRCA2 c.5818G>T p.E1940* Nonsense 11/27 -
3-89480438-G-C EPHA3 c.2275G>C p.V759L Missense 13/17 -
13-32914872-G-A BRCA2 c.6380G>A p.S2127N Missense 11/27 -
17-41245304-T-A BRCA1 c.2244A>T p.K748N Missense 10/23 -
17-41245304-T-G BRCA1 c.2244A>C p.K748N Missense 10/23 -
17-41245574-C-A BRCA1 c.1974G>T p.M658I Missense 10/23 -
13-32929069-C-G BRCA2 c.7079C>G p.S2360C Missense 14/27 -
17-41245735-C-T BRCA1 c.1813G>A p.A605T Missense 10/23 -
13-32929102-C-G BRCA2 c.7112C>G p.S2371C Missense 14/27 -
13-32929146-T-G BRCA2 c.7156T>G p.S2386A Missense 14/27 -
13-32929169-G-T BRCA2 c.7179G>T p.M2393I Missense 14/27 -
13-32930696-C-G BRCA2 c.7567C>G p.L2523V Missense 15/27 -
17-41246243-A-T BRCA1 c.1305T>A p.D435E Missense 10/23 -
17-41246269-C-G BRCA1 c.1279G>C p.E427Q Missense 10/23 -
13-32936800-C-T BRCA2 c.7946C>T p.P2649L Missense 17/27 -
17-41246543-G-C BRCA1 c.1005C>G p.S335R Missense 10/23 -
17-41246545-T-G BRCA1 c.1003A>C p.S335R Missense 10/23 -
17-41246577-C-A BRCA1 c.971G>T p.S324I Missense 10/23 -
13-32945192-G-T BRCA2 c.8587G>T p.E2863* Nonsense 20/27 -
13-32968996-T-C BRCA2 c.9427T>C p.F3143L Missense 25/27 -
13-32968998-T-A BRCA2 c.9429T>A p.F3143L Missense 25/27 -
13-32968998-T-G BRCA2 c.9429T>G p.F3143L Missense 25/27 -
1-11217277-C-A MTOR c.4401G>T p.M1467I Missense 30/58 -
13-32900681-G-C BRCA2 c.562G>C p.V188L Missense 7/27 -
13-32900681-G-T BRCA2 c.562G>T p.V188L Missense 7/27 -
7-116398652-C-T MET c.2242C>T p.H748Y Missense 9/21 -
7-55238902-A-G EGFR c.1915A>G p.N639D Missense 16/28 -
17-7578470-CG-C TP53 c.459delC p.G154Afs*16 Frameshift 5/11 -
1-27100074-G-A ARID1A c.3870G>A p.T1290= Synonymous 16/20 -
8-128750704-C-G MYC c.241C>G p.R81G Missense 2/3 -
15-88476297-G-T NTRK3 c.1835C>A p.P612H Missense 16/20 -
13-49033939-T-G RB1 c.2076T>G p.Y692* Nonsense 20/27 -
7-140481414-G-C BRAF c.1394C>G p.S465C Missense 11/18 -
1-115252343-C-A NRAS c.297G>T p.Q99H Missense 4/7 -
1-115252343-C-G NRAS c.297G>C p.Q99H Missense 4/7 -
8-128751215-A-C MYC c.752A>C p.E251A Missense 2/3 -
4-55133539-G-T PDGFRA c.843G>T p.T281= Synonymous 6/23 -
17-7578450-CA-GT TP53 c.479_480delTGinsAC p.M160N Missense 5/11 -
5-112178879-C-T APC c.7588C>T p.R2530W Missense 16/16 -
11-108115621-G-A ATM c.769G>A p.E257K Missense 7/63 -
12-15654798-T-G PTPRO c.906T>G p.S302R Missense 5/27 -
12-15654798-T-A PTPRO c.906T>A p.S302R Missense 5/27 -
1-162743341-T-C DDR2 c.1811T>C p.L604P Missense 14/18 -
5-112170813-G-C APC c.1909G>C p.G637R Missense 15/16 -
12-25380175-G-A KRAS c.283C>T p.H95Y Missense 3/5 -
1-27087892-C-T ARID1A c.2179C>T p.R727W Missense 6/20 -
17-29552209-G-T NF1 c.1942G>T p.E648* Nonsense 17/58 -
12-121431353-T-C HNF1A c.557T>C p.I186T Missense 3/10 -
17-29533322-T-C NF1 c.1325T>C p.M442T Missense 12/58 -
19-15295250-G-A NOTCH3 c.2422C>T p.Q808* Nonsense 16/33 -
8-128753114-G-A MYC c.1275G>A p.E425= Synonymous 3/3 -
1-27102118-G-A ARID1A c.5044G>A p.A1682T Missense 19/20 -
1-156843723-C-T NTRK1 c.1149C>T p.F383= Synonymous 8/17 -
11-108188212-G-A ATM c.6311G>A p.W2104* Nonsense 43/63 -
1-27088795-C-T ARID1A c.2404C>T p.Q802* Nonsense 7/20 -
5-112178196-C-T APC c.6905C>T p.S2302L Missense 16/16 -
5-112176877-G-C APC c.5586G>C p.L1862F Missense 16/16 -
7-55266445-A-G EGFR c.2737A>G p.K913E Missense 23/28 -
1-27023300-CCTCA-C ARID1A c.411_414delCTCA p.H137Qfs*94 Frameshift 1/20 -
7-140477833-G-T BRAF c.1475C>A p.P492H Missense 12/18 -
17-29687601-G-T NF1 c.8257G>T p.E2753* Nonsense 57/58 -
13-48954353-G-T RB1 c.1474G>T p.E492* Nonsense 16/27 -
4-55133488-C-G PDGFRA c.792C>G p.I264M Missense 6/23 -
10-89720786-A-T PTEN c.937A>T p.K313* Nonsense 8/9 -
17-7579426-CT-C TP53 c.261delA p.A88Pfs*35 Frameshift 4/11 -
17-29684367-TC-T NF1 c.7953delC p.V2653Sfs*26 Frameshift 54/58 -
5-112178001-G-A APC c.6710G>A p.R2237Q Missense 16/16 -
16-30129463-G-T MAPK3 c.565C>A p.R189= Synonymous 4/9 -
16-30129461-C-T MAPK3 c.567G>A p.R189= Synonymous 4/9 -
16-30129461-C-G MAPK3 c.567G>C p.R189= Synonymous 4/9 -
16-30129461-C-A MAPK3 c.567G>T p.R189= Synonymous 4/9 -
17-29554309-G-A NF1 c.2325G>A p.E775= Synonymous 19/58 -
7-55233039-G-T EGFR c.1789G>T p.A597S Missense 15/28 -
4-106155463-AG-CA TET2 c.364_365delAGinsCA p.R122Q Missense 3/11 -
17-29667616-G-T NF1 c.7015G>T p.E2339* Nonsense 47/58 -
8-38279338-G-A FGFR1 c.1058C>T p.S353F Missense 8/18 -
12-121431489-G-A HNF1A c.693G>A p.T231= Synonymous 3/10 -
17-29560174-T-A NF1 c.3651T>A p.D1217E Missense 27/58 -
6-152419948-C-T ESR1 c.1635C>T p.D545= Synonymous 8/8 -
5-112176002-G-A APC c.4711G>A p.D1571N Missense 16/16 -
9-135781385-T-A TSC1 c.1580A>T p.Q527L Missense 15/23 -
17-29664563-T-A NF1 c.6605T>A p.L2202* Nonsense 43/58 -
5-112175226-G-T APC c.3935G>T p.G1312V Missense 16/16 -
17-7577550-CC-AA TP53 c.730_731delGGinsTT p.G244F Missense 7/11 -
11-108196071-A-T ATM c.6607A>T p.I2203F Missense 46/63 -
5-112173957-A-C APC c.2666A>C p.K889T Missense 16/16 -
10-89624290-G-C PTEN c.64G>C p.D22H Missense 1/9 -
1-27023332-A-C ARID1A c.438A>C p.P146= Synonymous 1/20 -
5-112174106-A-G APC c.2815A>G p.K939E Missense 16/16 -
17-7579439-GC-G TP53 c.247delG p.A83Rfs*40 Frameshift 4/11 -
2-178098798-A-G NFE2L2 c.247T>C p.F83L Missense 2/5 -
17-7578446-TG-T TP53 c.483delC p.I162Sfs*8 Frameshift 5/11 -
3-178917510-G-C PIK3CA c.385G>C p.D129H Missense 3/21 -
13-48916747-C-G RB1 c.277C>G p.Q93E Missense 3/27 -
4-55129873-A-T PDGFRA c.407A>T p.Y136F Missense 4/23 -
1-27059234-G-A ARID1A c.1871G>A p.G624E Missense 4/20 -
10-89711873-AG-A PTEN c.494delG p.G165Efs*2 Frameshift 6/9 -
10-89653782-A-AT PTEN c.81dupT p.I28Yfs*16 SpliceAcceptorInsertion 2/9 -
11-108139179-A-T ATM c.2681A>T p.D894V Missense 18/63 -
11-108204626-T-G ATM c.7941T>G p.I2647M Missense 54/63 -
1-162748419-G-T DDR2 c.2333G>T p.W778L Missense 17/18 -
11-108098361-G-C ATM c.10G>C p.V4L Missense 2/63 -
12-121431489-G-C HNF1A c.693G>C p.T231= Synonymous 3/10 -
3-178927429-C-T PIK3CA c.1192C>T p.R398C Missense 7/21 -
3-37050311-G-T MLH1 c.460G>T p.D154Y Missense 6/19 -
13-49030447-C-T RB1 c.1922C>T p.P641L Missense 19/27 -
1-120493415-C-T NOTCH2 c.2411G>A p.C804Y Missense 15/34 -
15-88472478-C-A NTRK3 c.2077G>T p.V693L Missense 17/20 -
1-162724618-C-G DDR2 c.390C>G p.I130M Missense 5/18 -
5-1294971-G-T TERT c.134C>A p.A45E Missense 1/16 -
7-55210016-C-A EGFR c.126C>A p.G42= Synonymous 2/28 -
7-140508791-G-A BRAF c.509C>T p.P170L Missense 4/18 -
1-115252241-C-A NRAS c.399G>T p.L133= Synonymous 4/7 -
1-115252243-G-A NRAS c.397C>T p.L133= Synonymous 4/7 -
1-115256437-C-A NRAS c.274G>T p.D92Y Missense 3/7 -
7-55210037-C-A EGFR c.147C>A p.L49= Synonymous 2/28 -
7-55210037-C-T EGFR c.147C>T p.L49= Synonymous 2/28 -
4-106197458-G-T TET2 c.5791G>T p.E1931* Nonsense 11/11 -
3-178916616-G-T PIK3CA c.3G>T p.M1? Missense 2/21 -
17-37687226-C-G CDK12 c.4130C>G p.S1377* Nonsense 14/14 -
7-55269431-G-A EGFR c.3118G>A p.A1040T Missense 26/28 -
17-29560195-G-A NF1 c.3672G>A p.A1224= Synonymous 27/58 -
7-116339666-G-A MET c.528G>A p.V176= Synonymous 2/21 -
7-55240699-C-A EGFR c.1943C>A p.T648N Missense 17/28 -
7-55240781-G-A EGFR c.2025G>A p.R675= Synonymous 17/28 -
7-55240781-G-C EGFR c.2025G>C p.R675= Synonymous 17/28 -
11-108098577-CA-C ATM c.150delA p.K50Nfs*6 Frameshift 3/63 -
17-7577070-GGA-G TP53 c.866_867delTC p.L289Pfs*16 Frameshift 8/11 -
19-1219344-CGT-C STK11 c.402_403delTG p.C134Wfs*28 Frameshift 3/10 -
12-121431427-C-A HNF1A c.631C>A p.Q211K Missense 3/10 -
1-27023562-C-T ARID1A c.668C>T p.P223L Missense 1/20 -
17-7579426-TG-T TP53 c.260delC p.P87Qfs*36 Frameshift 4/11 -
3-12650364-T-C RAF1 c.482A>G p.N161S Missense 5/17 -
5-112173755-CTT-ATG APC c.2464_2466delCTTinsATG p.L822M Missense 16/16 -
4-55156540-C-A PDGFRA c.2941C>A p.R981S Missense 22/23 -
19-1207186-G-T STK11 c.274G>T p.E92* Nonsense 1/10 -
7-55223640-G-T EGFR c.1006+1G>T - IntronicSNV - 8/27
2-29445457-C-T ALK c.3376G>A p.A1126T Missense 21/29 -
13-48881510-TG-T RB1 c.235delG p.E79Rfs*32 Frameshift 2/27 -
11-108117783-T-G ATM c.994T>G p.Y332D Missense 8/63 -
4-55133539-G-C PDGFRA c.843G>C p.T281= Synonymous 6/23 -
1-120469132-C-A NOTCH2 c.3995G>T p.R1332L Missense 24/34 -
11-108129801-T-A ATM c.2465T>A p.L822* Nonsense 16/63 -
11-108159796-T-A ATM c.4202T>A p.L1401* Nonsense 28/63 -
11-108122645-G-A ATM c.1689G>A p.M563I Missense 11/63 -
8-128751228-C-G MYC c.765C>G p.L255= Synonymous 2/3 -
17-41245178-GA-G BRCA1 c.2370delT p.L791* Frameshift 10/23 -
4-55592201-A-C KIT c.1525A>C p.K509Q Missense 9/21 -
17-7579470-C-CA TP53 c.216_217insT p.V73Cfs*76 Frameshift 4/11 -
11-108122645-G-T ATM c.1689G>T p.M563I Missense 11/63 -
18-48604627-T-G SMAD4 c.1449T>G p.S483R Missense 12/12 -
4-55564685-G-C KIT c.573G>C p.E191D Missense 3/21 -
5-1253893-C-A TERT c.3349G>T p.A1117S Missense 16/16 -
9-139413126-C-T NOTCH1 c.1016G>A p.C339Y Missense 6/34 -
9-139413119-G-T NOTCH1 c.1023C>A p.S341R Missense 6/34 -
X-47424453-T-A ARAF c.373T>A p.C125S Missense 5/16 -
X-47424454-G-C ARAF c.374G>C p.C125S Missense 5/16 -
1-120491161-C-A NOTCH2 c.2628G>T p.E876D Missense 17/34 -
1-27099367-C-T ARID1A c.3604C>T p.R1202W Missense 14/20 -
7-116339203-G-A MET c.65G>A p.S22N Missense 2/21 -
10-123263358-C-A FGFR2 c.1385G>T p.G462V Missense 10/18 -
19-1220468-TG-T STK11 c.563delG p.G188Afs*99 Frameshift 4/10 -
11-108178663-C-G ATM c.5714C>G p.S1905* Nonsense 38/63 -
4-55564677-G-A KIT c.565G>A p.D189N Missense 3/21 -
17-29560133-C-A NF1 c.3610C>A p.R1204= Synonymous 27/58 -
8-38279391-G-A FGFR1 c.1005C>T p.D335= Synonymous 8/18 -
3-12660172-A-G RAF1 c.49T>C p.F17L Missense 2/17 -
3-12650366-G-T RAF1 c.480C>A p.L160= Synonymous 5/17 -
4-55127382-G-A PDGFRA c.170G>A p.W57* Nonsense 3/23 -
4-55133888-G-T PDGFRA c.1101G>T p.V367= Synonymous 7/23 -
4-55604668-C-A KIT c.2876C>A p.S959Y Missense 21/21 -
4-1806183-C-A FGFR3 c.1202C>A p.P401H Missense 9/18 -
19-1221242-C-T STK11 c.765C>T p.F255= Synonymous 6/10 -
1-115252241-C-T NRAS c.399G>A p.L133= Synonymous 4/7 -
1-115252241-C-G NRAS c.399G>C p.L133= Synonymous 4/7 -
19-3118934-G-A GNA11 c.618G>A p.V206= Synonymous 5/7 -
19-3118934-G-C GNA11 c.618G>C p.V206= Synonymous 5/7 -
19-3118934-G-T GNA11 c.618G>T p.V206= Synonymous 5/7 -
17-37868184-A-G ERBB2 c.905A>G p.N302S Missense 8/27 -
1-115258737-C-A NRAS c.45G>T p.G15= Synonymous 2/7 -
1-115258737-C-T NRAS c.45G>A p.G15= Synonymous 2/7 -
1-115258737-C-G NRAS c.45G>C p.G15= Synonymous 2/7 -
17-37879865-G-T ERBB2 c.2160G>T p.L720= Synonymous 18/27 -
17-37879865-G-A ERBB2 c.2160G>A p.L720= Synonymous 18/27 -
17-37879865-G-C ERBB2 c.2160G>C p.L720= Synonymous 18/27 -
17-37879863-C-T ERBB2 c.2158C>T p.L720= Synonymous 18/27 -
17-37881113-C-A ERBB2 c.2442C>A p.R814= Synonymous 20/27 -
17-37881113-C-G ERBB2 c.2442C>G p.R814= Synonymous 20/27 -
17-37881113-C-T ERBB2 c.2442C>T p.R814= Synonymous 20/27 -
5-112174209-A-G APC c.2918A>G p.Y973C Missense 16/16 -
5-112175486-C-T APC c.4195C>T p.R1399C Missense 16/16 -
5-112162892-G-A APC c.1496G>A p.R499Q Missense 12/16 -
10-89717774-A-T PTEN c.799A>T p.K267* Nonsense 7/9 -
10-123279652-G-T FGFR2 c.780C>A p.A260= Synonymous 7/18 -
10-123279652-G-C FGFR2 c.780C>G p.A260= Synonymous 7/18 -
10-123279652-G-A FGFR2 c.780C>T p.A260= Synonymous 7/18 -
18-48604627-T-A SMAD4 c.1449T>A p.S483R Missense 12/12 -
18-48603146-A-C SMAD4 c.1447A>C p.S483R Missense 11/12 -
7-55240818-G-C EGFR c.2061+1G>C - IntronicSNV - 17/27
7-55270262-A-G EGFR c.3215A>G p.D1072G Missense 27/28 -
17-29528178-G-C NF1 c.1185+1G>C - IntronicSNV - 10/57
17-29585521-G-A NF1 c.4332+1G>A - IntronicSNV - 32/57
13-49027241-CAGATATGTA-C RB1 c.1811_1814+5delATATGTAAG - SpliceDonorDeletion 18/27 18/26
19-1207202-AGTAAGTATGGCTTGCTGGGGTCGGGGCCGGGCCGGGCCAGTCACGGTGCTGATGGTTC-TA STK11 c.290_291delinsTA - Multi:SpliceDonorBlockSubstitution,SpliceAcceptorBlockSubstitution 1/10 1/9
7-92404041-G-C CDK6 c.338C>G p.P113R Missense 3/8 -
4-55561807-G-C KIT c.197G>C p.W66S Missense 2/21 -
15-88476259-G-T NTRK3 c.1873C>A p.L625M Missense 16/20 -
3-10183821-C-A VHL c.290C>A p.P97H Missense 1/3 -
X-47045146-T-A RBM10 c.2387T>A p.L796* Nonsense 21/24 -
4-55152050-C-G PDGFRA c.2482C>G p.Q828E Missense 18/23 -
17-29663429-G-C NF1 c.6085G>C p.E2029Q Missense 41/58 -
17-29533328-G-T NF1 c.1331G>T p.G444V Missense 12/58 -
19-10602482-C-G KEAP1 c.1096G>C p.A366P Missense 3/6 -
7-124532346-T-A POT1 c.98A>T p.K33M Missense 6/19 -
5-180043917-A-G FLT4 c.3079T>C p.F1027L Missense 22/30 -
5-180043915-G-T FLT4 c.3081C>A p.F1027L Missense 22/30 -
5-180043915-G-C FLT4 c.3081C>G p.F1027L Missense 22/30 -
4-55131204-C-A PDGFRA c.747C>A p.Y249* Nonsense 5/23 -
4-55133560-C-A PDGFRA c.864C>A p.Y288* Nonsense 6/23 -
1-120506347-C-A NOTCH2 c.1765G>T p.D589Y Missense 11/34 -
17-7576853-CTGAAGGGTGAAATATTCTCCATCCAG-C TP53 c.967_992del26 p.L323Dfs*5 SpliceDonorDeletion 9/11 -
2-29416547-G-T ALK c.4406C>A p.P1469Q Missense 29/29 -
11-108224591-G-C ATM c.8770G>C p.E2924Q Missense 60/63 -
1-156851397-C-G NTRK1 c.2354C>G p.A785G Missense 17/17 -
4-55564561-G-T KIT c.449G>T p.G150V Missense 3/21 -
1-27100181-C-G ARID1A c.3977C>G p.P1326R Missense 16/20 -
17-7576876-CCAGTGGTTTCTTCTTTGGCTGGGGAGAGGAGCTGGTGTTGTTGGG-C TP53 c.925_969del45 p.P309_L323del InFrameDeletion 9/11 -
12-4385214-C-A CCND2 c.239C>A p.A80D Missense 2/5 -
7-55266454-G-T EGFR c.2746G>T p.D916Y Missense 23/28 -
19-30313214-C-A CCNE1 c.908C>A p.A303D Missense 10/12 -
7-116398634-C-T MET c.2224C>T p.P742S Missense 9/21 -
19-4110515-C-T MAP2K2 c.442G>A p.E148K Missense 3/11 -
4-55151615-C-T PDGFRA c.2401C>T p.Q801* Nonsense 17/23 -
17-37882082-G-C ERBB2 c.2848G>C p.D950H Missense 23/27 -
1-162745992-T-C DDR2 c.2115T>C p.N705= Synonymous 16/18 -
7-116339654-T-C MET c.516T>C p.C172= Synonymous 2/21 -
5-112174655-A-C APC c.3364A>C p.N1122H Missense 16/16 -
7-55240808-G-A EGFR c.2052G>A p.Q684= Synonymous 17/28 -
15-88472428-A-T NTRK3 c.2127T>A p.Y709* Nonsense 17/20 -
1-11298472-C-A MTOR c.1989G>T p.G663= Synonymous 12/58 -
9-139401261-C-T NOTCH1 c.3808G>A p.E1270K Missense 23/34 -
1-162745982-C-T DDR2 c.2105C>T p.S702F Missense 16/18 -
2-29443621-A-G ALK c.3596T>C p.M1199T Missense 23/29 -
19-30303889-C-A CCNE1 c.125C>A p.P42Q Missense 4/12 -
15-88476349-G-T NTRK3 c.1783C>A p.L595M Missense 16/20 -
17-29664446-T-C NF1 c.6488T>C p.L2163S Missense 43/58 -
5-112178007-GCTC-G APC c.6720_6722delCTC p.S2242del InFrameDeletion 16/16 -
19-30314628-C-T CCNE1 c.1177C>T p.L393F Missense 12/12 -
1-162724542-G-C DDR2 c.314G>C p.R105P Missense 5/18 -
1-27106658-A-T ARID1A c.6269A>T p.H2090L Missense 20/20 -
9-139391496-T-C NOTCH1 c.6695A>G p.N2232S Missense 34/34 -
17-37863251-G-A ERBB2 c.82G>A p.G28S Missense 2/27 -
19-1207130-GCAGGAGGGCCGTCAAGATCCT-G STK11 c.221_241del21 p.R74_L80del InFrameDeletion 1/10 -
13-48954207-A-G RB1 c.1408A>G p.I470V Missense 15/27 -
7-140477804-C-A BRAF c.1504G>T p.V502L Missense 12/18 -
10-89720810-A-T PTEN c.961A>T p.T321S Missense 8/9 -
17-37880987-C-CGTGATGGCTGTT ERBB2 c.2326_2327insTTGTGATGGCTG p.A775_G776insVVMA InFrameInsertion 20/27 -
3-37059059-CC-TT MLH1 c.853_854delinsTT p.P285F Missense 10/19 -
10-8105969-T-A GATA3 c.792T>A p.C264* Nonsense 4/6 -
11-108198393-A-G ATM c.6997A>G p.T2333A Missense 48/63 -
19-1207080-GGGA-G STK11 c.168_170delGGA p.E57del InFrameDeletion 1/10 -
10-89685297-TTA-ATC PTEN c.192_194delinsATC p.H64_Y65delinsQS MultiAAMissense 3/9 -
5-112116552-G-A APC c.597G>A p.A199= Synonymous 6/16 -
5-112116552-G-C APC c.597G>C p.A199= Synonymous 6/16 -
5-112116552-G-T APC c.597G>T p.A199= Synonymous 6/16 -
17-29556323-GGCT-G NF1 c.2692_2694delCTG p.L899del InFrameDeletion 21/58 -
1-11298472-C-T MTOR c.1989G>A p.G663= Synonymous 12/58 -
1-11298472-C-G MTOR c.1989G>C p.G663= Synonymous 12/58 -
4-55564562-G-T KIT c.450G>T p.G150= Synonymous 3/21 -
4-55564562-G-A KIT c.450G>A p.G150= Synonymous 3/21 -
4-55564562-G-C KIT c.450G>C p.G150= Synonymous 3/21 -
7-116340224-G-T MET c.1086G>T p.M362I Missense 2/21 -
9-21859380-C-T MTAP c.769C>T p.Q257* Nonsense 7/8 -
2-112786155-C-T MERTK c.2714C>T p.S905F Missense 19/19 -
3-178927994-G-T PIK3CA c.1272G>T p.W424C Missense 8/21 -
1-156848931-C-T NTRK1 c.1823C>T p.A608V Missense 15/17 -
3-37089136-G-C MLH1 c.1858G>C p.E620Q Missense 16/19 -
17-29653191-C-A NF1 c.5189C>A p.T1730N Missense 37/58 -
4-55564685-G-T KIT c.573G>T p.E191D Missense 3/21 -
17-29654607-G-T NF1 c.5359G>T p.E1787* Nonsense 38/58 -
7-128850215-A-G SMO c.1478A>G p.N493S Missense 9/12 -
4-55564686-G-T KIT c.574G>T p.G192C Missense 3/21 -
4-55569928-T-G KIT c.795T>G p.G265= Synonymous 5/21 -
4-55569928-T-A KIT c.795T>A p.G265= Synonymous 5/21 -
4-55569928-T-C KIT c.795T>C p.G265= Synonymous 5/21 -
3-12660074-T-C RAF1 c.147A>G p.T49= Synonymous 2/17 -
3-12660074-T-A RAF1 c.147A>T p.T49= Synonymous 2/17 -
3-12660074-T-G RAF1 c.147A>C p.T49= Synonymous 2/17 -
17-29533275-G-T NF1 c.1278G>T p.W426C Missense 12/58 -
17-37881451-G-T ERBB2 c.2643G>T p.G881= Synonymous 21/27 -
17-37881451-G-A ERBB2 c.2643G>A p.G881= Synonymous 21/27 -
17-37881451-G-C ERBB2 c.2643G>C p.G881= Synonymous 21/27 -
7-55210037-C-G EGFR c.147C>G p.L49= Synonymous 2/28 -
5-112176056-ACGT-A APC c.4765_4767delCGT p.R1589del InFrameDeletion 16/16 -
4-55565813-G-T KIT c.637G>T p.V213F Missense 4/21 -
7-116418918-G-T MET c.3429G>T p.L1143= Synonymous 17/21 -
7-116418918-G-A MET c.3429G>A p.L1143= Synonymous 17/21 -
7-116418918-G-C MET c.3429G>C p.L1143= Synonymous 17/21 -
7-116418916-C-T MET c.3427C>T p.L1143= Synonymous 17/21 -
13-49033939-T-A RB1 c.2076T>A p.Y692* Nonsense 20/27 -
19-17945674-A-G JAK3 c.2186T>C p.L729P Missense 16/24 -
19-17945910-C-A JAK3 c.2029G>T p.A677S Missense 15/24 -
12-4398125-A-T CCND2 c.689A>T p.E230V Missense 4/5 -
8-128751228-C-T MYC c.765C>T p.L255= Synonymous 2/3 -
8-128751228-C-A MYC c.765C>A p.L255= Synonymous 2/3 -
15-88472615-G-A NTRK3 c.1940C>T p.A647V Missense 17/20 -
1-27057941-C-T ARID1A c.1649C>T p.P550L Missense 3/20 -
17-29553511-T-C NF1 c.2060T>C p.L687P Missense 18/58 -
9-21971162-G-T CDKN2A c.196C>A p.H66N Missense 2/3 -
15-88472602-C-A NTRK3 c.1953G>T p.L651= Synonymous 17/20 -
15-88472602-C-T NTRK3 c.1953G>A p.L651= Synonymous 17/20 -
15-88472602-C-G NTRK3 c.1953G>C p.L651= Synonymous 17/20 -
15-88472604-G-A NTRK3 c.1951C>T p.L651= Synonymous 17/20 -
1-11298586-G-T MTOR c.1875C>A p.T625= Synonymous 12/58 -
1-11298586-G-C MTOR c.1875C>G p.T625= Synonymous 12/58 -
1-11298586-G-A MTOR c.1875C>T p.T625= Synonymous 12/58 -
5-1295053-A-G TERT c.52T>C p.Y18H Missense 1/16 -
2-178098953-CC-AG NFE2L2 c.91_92delGGinsCT p.G31L Missense 2/5 -
12-4383279-C-T CCND2 c.73C>T p.R25C Missense 1/5 -
9-139403330-T-G NOTCH1 c.3163A>C p.N1055H Missense 19/34 -
1-27106335-C-A ARID1A c.5946C>A p.V1982= Synonymous 20/20 -
1-27106335-C-G ARID1A c.5946C>G p.V1982= Synonymous 20/20 -
1-27106335-C-T ARID1A c.5946C>T p.V1982= Synonymous 20/20 -
5-112177541-C-T APC c.6250C>T p.Q2084* Nonsense 16/16 -
10-123279621-C-G FGFR2 c.811G>C p.G271R Missense 7/18 -
1-11300374-C-G MTOR c.1772G>C p.S591T Missense 11/58 -
X-47426438-G-T ARAF c.781G>T p.A261S Missense 9/16 -
1-27106465-C-G ARID1A c.6076C>G p.Q2026E Missense 20/20 -
17-29559203-C-G NF1 c.3310C>G p.L1104V Missense 25/58 -
9-139401408-T-A NOTCH1 c.3661A>T p.N1221Y Missense 23/34 -
17-29557400-G-T NF1 c.3113G>T p.R1038M Missense 23/58 -
5-112178337-C-T APC c.7046C>T p.S2349L Missense 16/16 -
5-112176221-G-T APC c.4930G>T p.V1644F Missense 16/16 -
7-116409782-T-G MET c.2667T>G p.S889= Synonymous 12/21 -
7-116409782-T-C MET c.2667T>C p.S889= Synonymous 12/21 -
7-116409782-T-A MET c.2667T>A p.S889= Synonymous 12/21 -
7-55210016-C-T EGFR c.126C>T p.G42= Synonymous 2/28 -
7-55210016-C-G EGFR c.126C>G p.G42= Synonymous 2/28 -
1-27023332-A-T ARID1A c.438A>T p.P146= Synonymous 1/20 -
1-27023332-A-G ARID1A c.438A>G p.P146= Synonymous 1/20 -
17-29562659-T-G NF1 c.3739T>G p.F1247V Missense 28/58 -
3-12660165-T-A RAF1 c.56A>T p.D19V Missense 2/17 -
10-123276957-C-A FGFR2 c.960G>T p.T320= Synonymous 8/18 -
10-123276957-C-G FGFR2 c.960G>C p.T320= Synonymous 8/18 -
17-29665800-A-T NF1 c.6898A>T p.K2300* Nonsense 46/58 -
18-48604671-T-A SMAD4 c.1493T>A p.L498* Nonsense 12/12 -
13-49030414-C-A RB1 c.1889C>A p.T630K Missense 19/27 -
5-112154923-G-C APC c.1194G>C p.K398N Missense 10/16 -
17-29663874-T-A NF1 c.6369T>A p.H2123Q Missense 42/58 -
13-32911819-A-C BRCA2 c.3327A>C p.A1109= Synonymous 11/27 -
13-32911819-A-G BRCA2 c.3327A>G p.A1109= Synonymous 11/27 -
13-32911819-A-T BRCA2 c.3327A>T p.A1109= Synonymous 11/27 -
17-37876084-C-G ERBB2 c.1943C>G p.A648G Missense 16/27 -
4-55564722-G-C KIT c.610G>C p.V204L Missense 3/21 -
4-55564722-G-T KIT c.610G>T p.V204L Missense 3/21 -
17-29556987-G-T NF1 c.2985G>T p.L995= Synonymous 22/58 -
17-29556987-G-A NF1 c.2985G>A p.L995= Synonymous 22/58 -
4-55561928-C-T KIT c.318C>T p.S106= Synonymous 2/21 -
4-55561928-C-G KIT c.318C>G p.S106= Synonymous 2/21 -
4-55561928-C-A KIT c.318C>A p.S106= Synonymous 2/21 -
15-88472478-C-G NTRK3 c.2077G>C p.V693L Missense 17/20 -
10-90767567-A-T FAS c.307A>T p.R103* Nonsense 3/9 -
19-15284919-C-A NOTCH3 c.4696G>T p.E1566* Nonsense 25/33 -
17-66521088-G-T PRKAR1A c.538G>T p.G180* Nonsense 6/11 -
17-29560231-G-T NF1 c.3708G>T p.W1236C Missense 27/58 -
4-55561735-G-T KIT c.125G>T p.G42V Missense 2/21 -
17-29576014-A-T NF1 c.3987A>T p.S1329= Synonymous 30/58 -
17-29576014-A-C NF1 c.3987A>C p.S1329= Synonymous 30/58 -
1-27100074-G-T ARID1A c.3870G>T p.T1290= Synonymous 16/20 -
1-27100074-G-C ARID1A c.3870G>C p.T1290= Synonymous 16/20 -
3-10191551-A-T VHL c.544A>T p.R182W Missense 3/3 -
10-123298191-C-T FGFR2 c.663G>A p.V221= Synonymous 6/18 -
10-123298191-C-G FGFR2 c.663G>C p.V221= Synonymous 6/18 -
10-123298191-C-A FGFR2 c.663G>T p.V221= Synonymous 6/18 -
3-12626702-C-A RAF1 c.1587G>T p.S529= Synonymous 15/17 -
3-12626702-C-G RAF1 c.1587G>C p.S529= Synonymous 15/17 -
3-12626702-C-T RAF1 c.1587G>A p.S529= Synonymous 15/17 -
9-135776976-C-G TSC1 c.2502G>C p.K834N Missense 19/23 -
9-135776976-C-A TSC1 c.2502G>T p.K834N Missense 19/23 -
17-29560135-G-A NF1 c.3612G>A p.R1204= Synonymous 27/58 -
17-29560135-G-C NF1 c.3612G>C p.R1204= Synonymous 27/58 -
17-29560135-G-T NF1 c.3612G>T p.R1204= Synonymous 27/58 -
13-49039244-C-A RB1 c.2322C>A p.T774= Synonymous 22/27 -
13-49039244-C-G RB1 c.2322C>G p.T774= Synonymous 22/27 -
13-49039244-C-T RB1 c.2322C>T p.T774= Synonymous 22/27 -
18-48581300-G-A SMAD4 c.604G>A p.A202T Missense 5/12 -
17-29562725-G-C NF1 c.3805G>C p.D1269H Missense 28/58 -
17-37873585-T-G ERBB2 c.1750T>G p.C584G Missense 15/27 -
7-55240779-C-A EGFR c.2023C>A p.R675= Synonymous 17/28 -
7-55240781-G-T EGFR c.2025G>T p.R675= Synonymous 17/28 -
17-29670121-T-C NF1 c.7157T>C p.F2386S Missense 48/58 -
8-128751187-A-C MYC c.724A>C p.T242P Missense 2/3 -
12-4385328-T-G CCND2 c.353T>G p.L118R Missense 2/5 -
4-55569962-A-G KIT c.829A>G p.I277V Missense 5/21 -
2-29420495-G-A ALK c.3986C>T p.P1329L Missense 27/29 -
X-47426171-C-T ARAF c.691C>T p.L231F Missense 7/16 -
3-178916621-C-T PIK3CA c.8C>T p.P3L Missense 2/21 -
11-108186768-G-T ATM c.6126G>T p.W2042C Missense 42/63 -
10-89711969-A-T PTEN c.587A>T p.H196L Missense 6/9 -
9-139390884-C-G NOTCH1 c.7307G>C p.G2436A Missense 34/34 -
1-27107233-A-T ARID1A c.6844A>T p.I2282F Missense 20/20 -
17-37650802-G-A CDK12 c.2274G>A p.V758= Synonymous 5/14 -
17-37650802-G-C CDK12 c.2274G>C p.V758= Synonymous 5/14 -
17-37650802-G-T CDK12 c.2274G>T p.V758= Synonymous 5/14 -
1-27106902-G-T ARID1A c.6513G>T p.L2171= Synonymous 20/20 -
1-27106902-G-A ARID1A c.6513G>A p.L2171= Synonymous 20/20 -
1-27106902-G-C ARID1A c.6513G>C p.L2171= Synonymous 20/20 -
5-1279508-C-A TERT c.2028G>T p.L676= Synonymous 5/16 -
5-1279508-C-T TERT c.2028G>A p.L676= Synonymous 5/16 -
5-1279508-C-G TERT c.2028G>C p.L676= Synonymous 5/16 -
5-1279510-G-A TERT c.2026C>T p.L676= Synonymous 5/16 -
9-135771820-C-G TSC1 c.3297G>C p.K1099N Missense 23/23 -
9-135771820-C-A TSC1 c.3297G>T p.K1099N Missense 23/23 -
11-108115530-T-G ATM c.678T>G p.S226= Synonymous 7/63 -
11-108115530-T-C ATM c.678T>C p.S226= Synonymous 7/63 -
11-108115530-T-A ATM c.678T>A p.S226= Synonymous 7/63 -
13-32906855-TT-CA BRCA2 c.1240_1241delTTinsCA p.L414Q Missense 10/27 -
7-55229320-G-C EGFR c.1627G>C p.E543Q Missense 13/28 -
4-55133772-C-G PDGFRA c.985C>G p.L329V Missense 7/23 -
17-37618696-A-G CDK12 c.372A>G p.K124= Synonymous 1/14 -
17-37687154-C-A CDK12 c.4058C>A p.T1353N Missense 14/14 -
4-55133888-G-C PDGFRA c.1101G>C p.V367= Synonymous 7/23 -
11-108186767-G-C ATM c.6125G>C p.W2042S Missense 42/63 -
9-139417320-C-A NOTCH1 c.724G>T p.E242* Nonsense 4/34 -
11-69456151-A-G CCND1 c.70A>G p.N24D Missense 1/5 -
1-120458257-C-G NOTCH2 c.7088G>C p.G2363A Missense 34/34 -
6-152420028-G-T ESR1 c.1715G>T p.G572V Missense 8/8 -
9-139405193-G-C NOTCH1 c.2652C>G p.C884W Missense 17/34 -
4-1807663-A-G FGFR3 c.1832A>G p.Q611R Missense 13/18 -
7-55240750-G-T EGFR c.1994G>T p.G665V Missense 17/28 -
4-55153677-T-G PDGFRA c.2643T>G p.Y881* Nonsense 19/23 -
19-30311755-G-T CCNE1 c.609G>T p.E203D Missense 7/12 -
1-27097667-A-C ARID1A c.3256A>C p.S1086R Missense 12/20 -
12-4385338-G-T CCND2 c.363G>T p.E121D Missense 2/5 -
7-55266490-G-C EGFR c.2782G>C p.E928Q Missense 23/28 -
1-156851393-C-A NTRK1 c.2350C>A p.L784M Missense 17/17 -
12-25398299-A-G KRAS c.20T>C p.V7A Missense 2/5 -
2-178098934-A-C NFE2L2 c.111T>G p.F37L Missense 2/5 -
1-120512146-C-G NOTCH2 c.1096G>C p.E366Q Missense 6/34 -
1-156849123-G-A NTRK1 c.2015G>A p.S672N Missense 15/17 -
4-55129878-G-T PDGFRA c.412G>T p.V138F Missense 4/23 -
15-88476319-C-A NTRK3 c.1813G>T p.G605* Nonsense 16/20 -
17-7577566-T-TCA TP53 c.714_715insTG p.N239* Nonsense 7/11 -
1-27023766-C-A ARID1A c.872C>A p.A291D Missense 1/20 -
7-128850352-A-T SMO c.1615A>T p.K539* Nonsense 9/12 -
1-162743361-C-G DDR2 c.1831C>G p.R611G Missense 14/18 -
3-178947886-A-T PIK3CA c.2761A>T p.I921F Missense 19/21 -
11-108158348-A-T ATM c.4015A>T p.N1339Y Missense 27/63 -
17-29664885-G-A NF1 c.6691G>A p.E2231K Missense 44/58 -
1-27101442-C-T ARID1A c.4724C>T p.P1575L Missense 18/20 -
5-112175417-T-A APC c.4126T>A p.Y1376N Missense 16/16 -
7-116340270-G-T MET c.1132G>T p.V378F Missense 2/21 -
9-139409985-C-T NOTCH1 c.1853G>A p.C618Y Missense 11/34 -
1-162746146-G-T DDR2 c.2269G>T p.E757* Nonsense 16/18 -
7-55273243-G-A EGFR c.3566G>A p.G1189D Missense 28/28 -
13-49037918-A-G RB1 c.2158A>G p.K720E Missense 21/27 -
7-92300811-G-A CDK6 c.576C>T p.L192= Synonymous 5/8 -
7-92300811-G-C CDK6 c.576C>G p.L192= Synonymous 5/8 -
7-92300811-G-T CDK6 c.576C>A p.L192= Synonymous 5/8 -
4-55156621-G-C PDGFRA c.3022G>C p.D1008H Missense 22/23 -
9-139417587-C-A NOTCH1 c.457G>T p.G153C Missense 4/34 -
7-116422063-A-C MET c.3544A>C p.I1182L Missense 18/21 -
17-29483024-G-A NF1 c.84G>A p.Q28= Synonymous 2/58 -
17-37866365-T-A ERBB2 c.670T>A p.C224S Missense 6/27 -
17-37866366-G-C ERBB2 c.671G>C p.C224S Missense 6/27 -
7-55233023-C-T EGFR c.1773C>T p.C591= Synonymous 15/28 -
5-112163639-C-G APC c.1562C>G p.S521C Missense 13/16 -
17-29662006-T-G NF1 c.5963T>G p.M1988R Missense 40/58 -
1-27106758-C-G ARID1A c.6369C>G p.S2123R Missense 20/20 -
1-27106758-C-A ARID1A c.6369C>A p.S2123R Missense 20/20 -
1-27106756-A-C ARID1A c.6367A>C p.S2123R Missense 20/20 -
8-128751137-C-G MYC c.674C>G p.S225W Missense 2/3 -
1-27101694-T-G ARID1A c.4976T>G p.L1659R Missense 18/20 -
1-27106802-C-G ARID1A c.6413C>G p.T2138R Missense 20/20 -
10-89720799-T-A PTEN c.950T>A p.V317E Missense 8/9 -
4-55604673-G-T KIT c.2881G>T p.G961C Missense 21/21 -
7-55259457-G-C EGFR c.2515G>C p.A839P Missense 21/28 -
11-69465957-C-G CCND1 c.795C>G p.N265K Missense 5/5 -
11-69465957-C-A CCND1 c.795C>A p.N265K Missense 5/5 -
1-27105941-C-G ARID1A c.5552C>G p.T1851S Missense 20/20 -
1-27105940-A-T ARID1A c.5551A>T p.T1851S Missense 20/20 -
17-29553491-C-A NF1 c.2040C>A p.C680* Nonsense 18/58 -
8-38274850-T-G FGFR1 c.1637A>C p.N546T Missense 12/18 -
1-27099069-C-G ARID1A c.3485C>G p.P1162R Missense 13/20 -
7-128850369-C-G SMO c.1632C>G p.I544M Missense 9/12 -
19-17945928-C-G JAK3 c.2011G>C p.D671H Missense 15/24 -
5-112175062-A-T APC c.3771A>T p.E1257D Missense 16/16 -
4-55564519-G-T KIT c.407G>T p.C136F Missense 3/21 -
1-11319448-C-G MTOR c.19G>C p.A7P Missense 2/58 -
11-108124573-C-T ATM c.1931C>T p.S644L Missense 13/63 -
7-116371868-C-A MET c.1347C>A p.D449E Missense 3/21 -
19-17937643-A-G JAK3 c.3284T>C p.L1095P Missense 24/24 -
7-148512008-T-C EZH2 c.1670A>G p.E557G Missense 14/20 -
9-139397690-C-A NOTCH1 c.5111G>T p.G1704V Missense 27/34 -
9-139410154-G-A NOTCH1 c.1684C>T p.H562Y Missense 11/34 -
1-120491101-C-A NOTCH2 c.2688G>T p.M896I Missense 17/34 -
1-120508087-T-C NOTCH2 c.1670A>G p.Q557R Missense 10/34 -
17-29552254-G-T NF1 c.1987G>T p.G663W Missense 17/58 -
4-1807660-C-G FGFR3 c.1829C>G p.S610C Missense 13/18 -
4-1803422-G-C FGFR3 c.691G>C p.E231Q Missense 6/18 -
3-178916873-G-T PIK3CA c.260G>T p.R87I Missense 2/21 -
5-1294124-G-A TERT c.877C>T p.R293C Missense 2/16 -
19-30313397-C-G CCNE1 c.997C>G p.P333A Missense 11/12 -
4-55133539-G-A PDGFRA c.843G>A p.T281= Synonymous 6/23 -
1-11264626-C-A MTOR c.3936G>T p.P1312= Synonymous 26/58 -
1-11264626-C-T MTOR c.3936G>A p.P1312= Synonymous 26/58 -
1-11264626-C-G MTOR c.3936G>C p.P1312= Synonymous 26/58 -
8-128750985-C-G MYC c.522C>G p.S174R Missense 2/3 -
8-128750985-C-A MYC c.522C>A p.S174R Missense 2/3 -
8-128750983-A-C MYC c.520A>C p.S174R Missense 2/3 -
1-27056271-GGG-AGC ARID1A c.1267_1269delGGGinsAGC p.G423S Missense 2/20 -
4-55561897-C-A KIT c.287C>A p.T96K Missense 2/21 -
4-55565811-C-T KIT c.635C>T p.P212L Missense 4/21 -
5-112175062-A-C APC c.3771A>C p.E1257D Missense 16/16 -
4-55133585-A-C PDGFRA c.889A>C p.R297= Synonymous 6/23 -
8-38282102-G-T FGFR1 c.861C>A p.I287= Synonymous 7/18 -
8-38282102-G-A FGFR1 c.861C>T p.I287= Synonymous 7/18 -
7-140476763-A-G BRAF c.1643T>C p.F548S Missense 13/18 -
5-112173859-C-A APC c.2568C>A p.R856= Synonymous 16/16 -
5-112173859-C-G APC c.2568C>G p.R856= Synonymous 16/16 -
1-156849020-A-C NTRK1 c.1912A>C p.M638L Missense 15/17 -
1-156849020-A-T NTRK1 c.1912A>T p.M638L Missense 15/17 -
19-4117423-G-T MAP2K2 c.297C>A p.A99= Synonymous 2/11 -
19-4117423-G-C MAP2K2 c.297C>G p.A99= Synonymous 2/11 -
19-4117423-G-A MAP2K2 c.297C>T p.A99= Synonymous 2/11 -
17-29554612-G-T NF1 c.2397G>T p.M799I Missense 20/58 -
5-1293740-G-T TERT c.1261C>A p.P421T Missense 2/16 -
7-55223561-G-C EGFR c.928G>C p.A310P Missense 8/28 -
4-55592051-G-A KIT c.1375G>A p.V459M Missense 9/21 -
9-139390849-G-T NOTCH1 c.7342C>A p.P2448T Missense 34/34 -
9-139399785-G-C NOTCH1 c.4563C>G p.C1521W Missense 25/34 -
1-27101064-G-T ARID1A c.4346G>T p.G1449V Missense 18/20 -
6-152332897-G-T ESR1 c.1203G>T p.K401N Missense 5/8 -
11-108124563-G-C ATM c.1921G>C p.E641Q Missense 13/63 -
X-47426061-C-A ARAF c.581C>A p.P194Q Missense 7/16 -
4-55152014-C-T PDGFRA c.2446C>T p.H816Y Missense 18/23 -
17-7577562-ACTGTTACACATGTAGTTGTAG-A TP53 c.699_719del21 p.Y234_S240del InFrameDeletion 7/11 -
2-29430101-G-A ALK c.3874C>T p.P1292S Missense 26/29 -
13-48947593-G-T RB1 c.1180G>T p.D394Y Missense 12/27 -
3-178916924-CA-AT PIK3CA c.311_312delCAinsAT p.P104H Missense 2/21 -
1-11292528-T-A MTOR c.2479A>T p.M827L Missense 16/58 -
12-4383375-A-G CCND2 c.169A>G p.R57G Missense 1/5 -
10-123298124-A-G FGFR2 c.730T>C p.Y244H Missense 6/18 -
1-11269439-G-A MTOR c.3731C>T p.A1244V Missense 25/58 -
9-135781280-G-T TSC1 c.1685C>A p.A562D Missense 15/23 -
7-55249014-A-ACACACACACACACAG EGFR c.2313_2314insACACACACACACAGC p.N771_P772insTHTHS InFrameInsertion 20/28 -
11-108204669-G-C ATM c.7984G>C p.V2662L Missense 54/63 -
12-121434363-C-T HNF1A c.1127C>T p.P376L Missense 6/10 -
17-37864592-G-T ERBB2 c.244G>T p.G82C Missense 3/27 -
17-37866107-G-A ERBB2 c.616G>A p.G206R Missense 5/27 -
17-37866107-G-C ERBB2 c.616G>C p.G206R Missense 5/27 -
1-27106912-G-T ARID1A c.6523G>T p.A2175S Missense 20/20 -
5-112174047-G-C APC c.2756G>C p.R919T Missense 16/16 -
5-112178216-C-G APC c.6925C>G p.P2309A Missense 16/16 -
1-11276243-T-A MTOR c.3079A>T p.I1027F Missense 20/58 -
9-139391802-C-A NOTCH1 c.6389G>T p.G2130V Missense 34/34 -
1-11273456-C-G MTOR c.3285G>C p.K1095N Missense 21/58 -
1-11273456-C-A MTOR c.3285G>T p.K1095N Missense 21/58 -
4-55129869-G-T PDGFRA c.403G>T p.D135Y Missense 4/23 -
17-29527472-T-G NF1 c.921T>G p.L307= Synonymous 9/58 -
17-29527472-T-A NF1 c.921T>A p.L307= Synonymous 9/58 -
17-29527472-T-C NF1 c.921T>C p.L307= Synonymous 9/58 -
4-55143581-G-A PDGFRA c.1813G>A p.G605R Missense 13/23 -
1-162743333-G-T DDR2 c.1803G>T p.Q601H Missense 14/18 -
17-37866372-G-T ERBB2 c.677G>T p.R226L Missense 6/27 -
7-116339666-G-C MET c.528G>C p.V176= Synonymous 2/21 -
7-116339666-G-T MET c.528G>T p.V176= Synonymous 2/21 -
5-1294962-C-A TERT c.143G>T p.R48L Missense 1/16 -
19-17937613-C-A JAK3 c.3314G>T p.C1105F Missense 24/24 -
4-55153689-C-A PDGFRA c.2655C>A p.L885= Synonymous 19/23 -
4-1806115-C-A FGFR3 c.1134C>A p.S378R Missense 9/18 -
1-156843736-G-T NTRK1 c.1162G>T p.E388* Nonsense 8/17 -
1-27023384-G-C ARID1A c.490G>C p.A164P Missense 1/20 -
1-120466556-CCCCTGGTCA-C NOTCH2 c.4554_4562delTGACCAGGG p.C1518_G1521delinsW MultiAAMissense 26/34 -
10-43609993-T-G RET c.1945T>G p.S649A Missense 11/20 -
1-156846267-C-G NTRK1 c.1708C>G p.Q570E Missense 14/17 -
9-139407496-C-A NOTCH1 c.2444G>T p.C815F Missense 15/34 -
9-135779057-T-C TSC1 c.2189A>G p.E730G Missense 17/23 -
1-156843563-C-A NTRK1 c.989C>A p.T330N Missense 8/17 -
15-88472658-C-A NTRK3 c.1897G>T p.G633W Missense 17/20 -
10-89690820-ATG-TTA PTEN c.227_229delinsTTA p.Y76_D77delinsFN MultiAAMissense 4/9 -
4-55153689-C-T PDGFRA c.2655C>T p.L885= Synonymous 19/23 -
4-55153689-C-G PDGFRA c.2655C>G p.L885= Synonymous 19/23 -
12-25398226-TTC-ATA KRAS c.91_93delGAAinsTAT p.E31Y Missense 2/5 -
8-38273447-C-G FGFR1 c.1795G>C p.D599H Missense 13/18 -
6-152332852-C-A ESR1 c.1158C>A p.I386= Synonymous 5/8 -
6-152332852-C-T ESR1 c.1158C>T p.I386= Synonymous 5/8 -
7-140439744-TA-GC BRAF c.1994_1995delTAinsGC p.I665S Missense 17/18 -
12-121432082-T-A HNF1A c.829T>A p.F277I Missense 4/10 -
15-88472436-T-G NTRK3 c.2119A>C p.T707P Missense 17/20 -
8-38283646-C-G FGFR1 c.739G>C p.V247L Missense 6/18 -
7-55211079-A-T EGFR c.322A>T p.R108* Nonsense 3/28 -
1-27092857-G-C ARID1A c.2878G>C p.G960R Missense 9/20 -
1-27101683-G-A ARID1A c.4965G>A p.Q1655= Synonymous 18/20 -
19-17955138-A-C JAK3 c.89T>G p.L30R Missense 2/24 -
4-55561720-C-T KIT c.110C>T p.P37L Missense 2/21 -
13-32914312-G-A BRCA2 c.5820G>A p.E1940= Synonymous 11/27 -
4-55570041-C-A KIT c.908C>A p.T303K Missense 5/21 -
11-108205752-A-C ATM c.8067A>C p.E2689D Missense 55/63 -
18-48593516-G-T SMAD4 c.1267G>T p.G423* Nonsense 10/12 -
7-55249008-T-TGGGCGG EGFR c.2308_2309insGCGGGG p.V769_D770insGG InFrameInsertion 20/28 -
4-55127371-T-G PDGFRA c.159T>G p.S53R Missense 3/23 -
4-55127371-T-A PDGFRA c.159T>A p.S53R Missense 3/23 -
4-55127369-A-C PDGFRA c.157A>C p.S53R Missense 3/23 -
17-37881615-C-T ERBB2 c.2685C>T p.L895= Synonymous 22/27 -
17-37881615-C-G ERBB2 c.2685C>G p.L895= Synonymous 22/27 -
17-37881615-C-A ERBB2 c.2685C>A p.L895= Synonymous 22/27 -
17-37880987-C-T ERBB2 c.2316C>T p.Y772= Synonymous 20/27 -
1-27102191-T-G ARID1A c.5117T>G p.L1706R Missense 19/20 -
4-55127383-G-A PDGFRA c.171G>A p.W57* Nonsense 3/23 -
1-11174375-T-G MTOR c.7300A>C p.T2434P Missense 53/58 -
19-1219350-T-A STK11 c.402T>A p.C134* Nonsense 3/10 -
12-58144866-A-C CDK4 c.362T>G p.M121R Missense 4/8 -
7-55249012-C-CAGCGTGGAT EGFR c.2311_2312insGCGTGGATA p.S768_D770dup InFrameInsertion 20/28 -
7-116339221-A-G MET c.83A>G p.E28G Missense 2/21 -
6-152265422-G-T ESR1 c.875G>T p.W292L Missense 4/8 -
9-139418197-G-T NOTCH1 c.375C>A p.Y125* Nonsense 3/34 -
5-1278853-G-C TERT c.2189C>G p.A730G Missense 6/16 -
7-116339467-G-C MET c.329G>C p.G110A Missense 2/21 -
9-139391440-C-A NOTCH1 c.6751G>T p.A2251S Missense 34/34 -
19-4110582-G-T MAP2K2 c.375C>A p.C125* Nonsense 3/11 -
1-27106495-G-A ARID1A c.6106G>A p.E2036K Missense 20/20 -
17-29665063-C-A NF1 c.6725C>A p.P2242Q Missense 45/58 -
15-88476324-A-T NTRK3 c.1808T>A p.F603Y Missense 16/20 -
4-55564726-G-C KIT c.614G>C p.R205T Missense 3/21 -
2-29416300-C-G ALK c.4653G>C p.P1551= Synonymous 29/29 -
3-12650366-G-A RAF1 c.480C>T p.L160= Synonymous 5/17 -
3-12650366-G-C RAF1 c.480C>G p.L160= Synonymous 5/17 -
1-11273478-G-A MTOR c.3263C>T p.P1088L Missense 21/58 -
12-4385228-G-T CCND2 c.253G>T p.D85Y Missense 2/5 -
3-12660170-G-T RAF1 c.51C>A p.F17L Missense 2/17 -
3-12660170-G-C RAF1 c.51C>G p.F17L Missense 2/17 -
17-37883137-A-G ERBB2 c.3040A>G p.M1014V Missense 25/27 -
17-29663878-ACTG-A NF1 c.6373_6375delCTG p.L2125del InFrameDeletion 42/58 -
17-29663440-A-C NF1 c.6096A>C p.A2032= Synonymous 41/58 -
17-29663440-A-G NF1 c.6096A>G p.A2032= Synonymous 41/58 -
17-29663440-A-T NF1 c.6096A>T p.A2032= Synonymous 41/58 -
7-92355045-G-T CDK6 c.432C>A p.R144= Synonymous 4/8 -
7-92355045-G-C CDK6 c.432C>G p.R144= Synonymous 4/8 -
7-92355045-G-A CDK6 c.432C>T p.R144= Synonymous 4/8 -
1-11317080-G-A MTOR c.414C>T p.D138= Synonymous 4/58 -
19-1220421-ATT-GGTATG STK11 c.514_516delinsGGTATG p.I172delinsGM MultiAAMissense 4/10 -
2-29446309-C-A ALK c.3258G>T p.S1086= Synonymous 20/29 -
2-29446309-C-G ALK c.3258G>C p.S1086= Synonymous 20/29 -
2-29446309-C-T ALK c.3258G>A p.S1086= Synonymous 20/29 -
5-112177350-G-T APC c.6059G>T p.C2020F Missense 16/16 -
5-112102961-G-T APC c.296G>T p.R99L Missense 4/16 -
5-112175781-C-A APC c.4490C>A p.P1497Q Missense 16/16 -
12-121431359-A-G HNF1A c.563A>G p.E188G Missense 3/10 -
17-29576110-T-G NF1 c.4083T>G p.L1361= Synonymous 30/58 -
17-29576110-T-A NF1 c.4083T>A p.L1361= Synonymous 30/58 -
17-29576110-T-C NF1 c.4083T>C p.L1361= Synonymous 30/58 -
17-29508472-G-T NF1 c.619G>T p.V207F Missense 6/58 -
17-29663902-C-G NF1 c.6397C>G p.L2133V Missense 42/58 -
17-29541602-G-A NF1 c.1526G>A p.C509Y Missense 13/58 -
7-55225373-G-A EGFR c.1225G>A p.A409T Missense 11/28 -
9-139405637-T-A NOTCH1 c.2554A>T p.S852C Missense 16/34 -
9-139390796-G-A NOTCH1 c.7395C>T p.P2465= Synonymous 34/34 -
9-139390796-G-C NOTCH1 c.7395C>G p.P2465= Synonymous 34/34 -
9-139390796-G-T NOTCH1 c.7395C>A p.P2465= Synonymous 34/34 -
3-178928118-CC-AT PIK3CA c.1396_1397delCCinsAT p.P466I Missense 8/21 -
12-121431415-G-T HNF1A c.619G>T p.G207C Missense 3/10 -
1-156843626-C-A NTRK1 c.1052C>A p.P351H Missense 8/17 -
7-55240786-G-C EGFR c.2030G>C p.R677P Missense 17/28 -
17-7574010-CTCGAAGCGCTCACGCCCACGGA-C TP53 c.995_1016del22 p.I332Rfs*6 SpliceAcceptorDeletion 10/11 9/10
12-4385251-G-T CCND2 c.276G>T p.P92= Synonymous 2/5 -
12-4385251-G-C CCND2 c.276G>C p.P92= Synonymous 2/5 -
4-55127473-G-A PDGFRA c.261G>A p.V87= Synonymous 3/23 -
4-55127473-G-C PDGFRA c.261G>C p.V87= Synonymous 3/23 -
4-55127473-G-T PDGFRA c.261G>T p.V87= Synonymous 3/23 -
7-116380081-G-A MET c.1470G>A p.V490= Synonymous 4/21 -
7-116380081-G-C MET c.1470G>C p.V490= Synonymous 4/21 -
7-116380081-G-T MET c.1470G>T p.V490= Synonymous 4/21 -
3-12626626-C-T RAF1 c.1663G>A p.D555N Missense 15/17 -
4-55152047-G-T PDGFRA c.2479G>T p.A827S Missense 18/23 -
X-47429396-T-G ARAF c.1524T>G p.P508= Synonymous 14/16 -
X-47429396-T-A ARAF c.1524T>A p.P508= Synonymous 14/16 -
X-47429396-T-C ARAF c.1524T>C p.P508= Synonymous 14/16 -
10-123325096-G-A FGFR2 c.232C>T p.H78Y Missense 3/18 -
1-27099303-C-T ARID1A c.3540C>T p.S1180= Synonymous 14/20 -
16-30129425-C-A MAPK3 c.603G>T p.L201= Synonymous 4/9 -
16-30129425-C-T MAPK3 c.603G>A p.L201= Synonymous 4/9 -
16-30129425-C-G MAPK3 c.603G>C p.L201= Synonymous 4/9 -
16-30129427-G-A MAPK3 c.601C>T p.L201= Synonymous 4/9 -
1-156843501-G-T NTRK1 c.927G>T p.P309= Synonymous 8/17 -
1-156843501-G-A NTRK1 c.927G>A p.P309= Synonymous 8/17 -
1-156843501-G-C NTRK1 c.927G>C p.P309= Synonymous 8/17 -
7-55233014-C-T EGFR c.1764C>T p.G588= Synonymous 15/28 -
7-55233014-C-G EGFR c.1764C>G p.G588= Synonymous 15/28 -
7-55233014-C-A EGFR c.1764C>A p.G588= Synonymous 15/28 -
19-30313456-C-A CCNE1 c.1056C>A p.V352= Synonymous 11/12 -
19-30313456-C-G CCNE1 c.1056C>G p.V352= Synonymous 11/12 -
19-30313456-C-T CCNE1 c.1056C>T p.V352= Synonymous 11/12 -
17-41219707-G-T BRCA1 c.4992C>A p.L1664= Synonymous 16/23 -
19-30313237-G-A CCNE1 c.931G>A p.E311K Missense 10/12 -
9-135781028-A-C TSC1 c.1937T>G p.M646R Missense 15/23 -
4-55141082-C-G PDGFRA c.1728C>G p.D576E Missense 12/23 -
18-48603083-G-T SMAD4 c.1384G>T p.A462S Missense 11/12 -
19-30313463-G-C CCNE1 c.1063G>C p.E355Q Missense 11/12 -
1-162743284-T-C DDR2 c.1754T>C p.M585T Missense 14/18 -
4-1808843-G-C FGFR3 c.2275G>C p.E759Q Missense 18/18 -
17-29527539-G-C NF1 c.988G>C p.A330P Missense 9/58 -
1-11217288-C-T MTOR c.4390G>A p.D1464N Missense 30/58 -
7-128846417-TC-AA SMO c.1253_1254delinsAA p.F418* Missense 6/12 -
5-1293765-G-T TERT c.1236C>A p.H412Q Missense 2/16 -
5-112174608-G-T APC c.3317G>T p.G1106V Missense 16/16 -
17-7577119-ACGCACCTCAAAGCTGTTC-A TP53 c.801_818del18 p.N268_R273del InFrameDeletion 8/11 -
8-38282128-C-G FGFR1 c.835G>C p.V279L Missense 7/18 -
8-38282128-C-A FGFR1 c.835G>T p.V279L Missense 7/18 -
X-47429327-C-T ARAF c.1455C>T p.P485= Synonymous 14/16 -
X-47429327-C-G ARAF c.1455C>G p.P485= Synonymous 14/16 -
X-47429327-C-A ARAF c.1455C>A p.P485= Synonymous 14/16 -
1-27105980-A-C ARID1A c.5591A>C p.E1864A Missense 20/20 -
1-27087568-C-T ARID1A c.2142C>T p.L714= Synonymous 5/20 -
1-27087568-C-G ARID1A c.2142C>G p.L714= Synonymous 5/20 -
1-27087568-C-A ARID1A c.2142C>A p.L714= Synonymous 5/20 -
17-29560055-A-T NF1 c.3532A>T p.T1178S Missense 27/58 -
1-27087585-C-T ARID1A c.2159C>T p.P720L Missense 5/20 -
9-139413119-G-C NOTCH1 c.1023C>G p.S341R Missense 6/34 -
9-139413121-T-G NOTCH1 c.1021A>C p.S341R Missense 6/34 -
4-55131095-A-T PDGFRA c.638A>T p.E213V Missense 5/23 -
19-1221227-CGGG-C STK11 c.750_752delGGG p.G251del InFrameDeletion 6/10 -
7-55249011-A-ACAACCCCCGCGGCAC EGFR c.2317_2318insGCGGCACCAACCCCC p.P772_H773insRGTNP InFrameInsertion 20/28 -
12-4383306-G-C CCND2 c.100G>C p.E34Q Missense 1/5 -
17-29663481-T-C NF1 c.6137T>C p.V2046A Missense 41/58 -
2-29445461-A-G ALK c.3372T>C p.H1124= Synonymous 21/29 -
17-29560195-G-C NF1 c.3672G>C p.A1224= Synonymous 27/58 -
17-29560195-G-T NF1 c.3672G>T p.A1224= Synonymous 27/58 -
18-48604767-A-AC SMAD4 c.1591_1591dupC p.R531Pfs*46 Frameshift 12/12 -
17-7577051-GTGAGGCTC-G TP53 c.880_887delGAGCCTCA p.E294Pfs*9 Frameshift 8/11 -
17-29586119-GTGAAAAGCAAC-G NF1 c.4404_4414del11 p.K1469* Frameshift 33/58 -
17-29661923-CA-C NF1 c.5882delA p.K1961Sfs*18 Frameshift 40/58 -
1-27023860-CGGGGGCGCCGGCAA-C ARID1A c.970_983del14 p.G324Pfs*71 Frameshift 1/20 -
10-123263331-TC-T FGFR2 c.1411delG p.D471Tfs*11 Frameshift 10/18 -
9-139409106-TG-T NOTCH1 c.2062delC p.H688Tfs*84 Frameshift 13/34 -
19-1207065-TGGGGGACC-T STK11 c.153_160delGGGGGACC p.M51Ifs*109 Frameshift 1/10 -
19-1207061-CTGATGGGGGA-C STK11 c.149_158delTGATGGGGGA p.L50Pfs*11 Frameshift 1/10 -
13-48937003-AG-A RB1 c.771delG p.N258Tfs*6 Frameshift 8/27 -
1-27106236-C-CA ARID1A c.5847_5848insA p.R1950Tfs*13 Frameshift 20/20 -
19-1221986-CG-C STK11 c.903delG p.Q302Rfs*34 Frameshift 7/10 -
1-27087467-TTCTC-T ARID1A c.2044_2047delTCTC p.S682Lfs*59 Frameshift 5/20 -
10-89711925-GT-G PTEN c.545delT p.L182* Frameshift 6/9 -
11-108165749-T-TA ATM c.4875_4875dupA p.D1626Rfs*13 Frameshift 32/63 -
9-21971152-TCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACTCGGGCGCTG-T CDKN2A c.165_205del41 p.S56Afs*50 Frameshift 2/3 -
9-21971155-G-GC CDKN2A c.202_202dupG p.A68Gfs*52 Frameshift 2/3 -
9-21974808-TC-T CDKN2A c.18delG p.S7Afs*19 Frameshift 1/3 -
17-7579462-AGG-A TP53 c.223_224delCC p.P75Cfs*73 Frameshift 4/11 -
19-1220595-CG-C STK11 c.613delG p.A205Rfs*82 Frameshift 5/10 -
17-29592315-C-CT NF1 c.4795_4795dupT p.S1599Ffs*23 Frameshift 36/58 -
17-7579509-G-TGC TP53 c.178delinsGCA p.P60Afs*64 Frameshift 4/11 -
17-29653033-C-CT NF1 c.5032_5032dupT p.Y1678Lfs*4 Frameshift 37/58 -
5-112151228-GT-G APC c.875delT p.L292* Frameshift 9/16 -
19-1221301-C-CG STK11 c.827_827dupG p.D277Rfs*8 Frameshift 6/10 -
19-1220432-AGGACATC-A STK11 c.525_531delGGACATC p.D176Sfs*109 Frameshift 4/10 -
9-21971139-GGC-G CDKN2A c.217_218delGC p.A73Rfs*46 Frameshift 2/3 -
17-7576905-G-GA TP53 c.940_940dupT p.S314Ffs*23 Frameshift 9/11 -
9-21974768-CGCGG-C CDKN2A c.56_59delCCGC p.A19Gfs*6 Frameshift 1/3 -
7-116403287-GA-G MET c.2548delA p.I850Sfs*26 Frameshift 11/21 -
17-7577065-CT-C TP53 c.872delA p.K291Rfs*54 Frameshift 8/11 -
11-108119742-C-CT ATM c.1150_1150dupT p.C384Lfs*23 Frameshift 9/63 -
17-7577571-ATGTAGTTGTAG-A TP53 c.699_709del11 p.Y234Vfs*2 Frameshift 7/11 -
17-7579346-AAGAAGCCCAGACGG-A TP53 c.327_340del14 p.R110Afs*34 Frameshift 4/11 -
17-29562747-GAGGCAAC-G NF1 c.3830_3836delGCAACAG p.G1277Afs*6 Frameshift 28/58 -
17-7577545-ATGCCG-A TP53 c.732_736delCGGCA p.G245Efs*17 Frameshift 7/11 -
19-1223007-CG-C STK11 c.946delG p.A316Lfs*20 Frameshift 8/10 -
19-1206999-TC-T STK11 c.87delC p.I29Mfs*22 Frameshift 1/10 -
11-108196105-A-AC ATM c.6642_6642dupC p.S2215Qfs*2 Frameshift 46/63 -
17-7577024-TTAGTGCTCCC-T TP53 c.904_913delGGGAGCACTA p.G302Sfs*40 Frameshift 8/11 -
17-7579862-TTCCTGACTCAGAGGGGGCTCGACGC-T TP53 c.26_50del25 p.S9Kfs*27 Frameshift 2/11 -
19-1223023-GC-G STK11 c.963delC p.I322Sfs*14 Frameshift 8/10 -
17-41246504-CA-C BRCA1 c.1044delT p.C348Wfs*26 Frameshift 10/23 -
11-108153555-CTTCTTTTCCTT-C ATM c.3698_3708del11 p.S1233Yfs*9 Frameshift 25/63 -
19-1220596-CG-C STK11 c.616delG p.A206Rfs*81 Frameshift 5/10 -
9-139391880-CGCTCCTGTGCGATGTCGCGCGGCAG-C NOTCH1 c.6286_6310del25 p.L2096Afs*7 Frameshift 34/34 -
5-112173830-TG-T APC c.2539delG p.E847Kfs*14 Frameshift 16/16 -
9-139399189-G-GC NOTCH1 c.4953_4953dupG p.L1652Afs*30 Frameshift 26/34 -
9-21971127-AGT-A CDKN2A c.229_230delAC p.T77Sfs*42 Frameshift 2/3 -
9-21971059-GC-G CDKN2A c.298delG p.A100Pfs*46 Frameshift 2/3 -
19-1221967-G-CT STK11 c.882delinsCT p.A295Cfs*23 Frameshift 7/10 -
19-1221272-GA-G STK11 c.797delA p.N266Tfs*21 Frameshift 6/10 -
17-7576875-T-TC TP53 c.970_970dupG p.D324Gfs*13 Frameshift 9/11 -
1-27097637-C-CT ARID1A c.3228_3228dupT p.A1077Cfs*28 Frameshift 12/20 -
11-108150244-CT-C ATM c.3313delT p.S1105Pfs*4 Frameshift 23/63 -
17-7578532-ATC-A TP53 c.396_397delGA p.K132Nfs*16 Frameshift 5/11 -
1-27105667-GAGGGTGGGGAAGAAGAAGAAGAACTTCTAGGTCCTAAACTAG-TAA ARID1A c.5278_5320delinsTAA p.E1760* Frameshift 20/20 -
17-7577144-CA-C TP53 c.794delT p.L265Rfs*80 Frameshift 8/11 -
17-7578376-C-CT TP53 c.553_553dupA p.S185Kfs*24 Frameshift 5/11 -
4-1806118-CG-C FGFR3 c.1141delG p.V381Wfs*13 Frameshift 9/18 -
13-49037879-TC-T RB1 c.2121delC p.M708Cfs*7 Frameshift 21/27 -
9-21970993-CCCAG-C CDKN2A c.361_364delCTGG p.L121Afs*24 Frameshift 2/3 -
10-89692842-ACCAATGG-A PTEN c.328_334delCAATGGC p.Q110* Frameshift 5/9 -
13-48941657-GA-G RB1 c.970delA p.I324Ffs*8 Frameshift 10/27 -
17-29528474-GTAAA-G NF1 c.1233_1236delAAAT p.N412Hfs*60 Frameshift 11/58 -
17-7578370-C-T TP53 c.559+1G>A - IntronicSNV - 5/10
17-7576852-C-T TP53 c.993+1G>A - IntronicSNV - 9/10
17-7577580-T-C TP53 c.701A>G p.Y234C Missense 7/11 -
17-7578236-A-C TP53 c.613T>G p.Y205D Missense 6/11 -
17-7577570-C-T TP53 c.711G>A p.M237I Missense 7/11 -
17-7577570-C-A TP53 c.711G>T p.M237I Missense 7/11 -
17-7578403-C-T TP53 c.527G>A p.C176Y Missense 5/11 -
4-55599321-A-T KIT c.2447A>T p.D816V Missense 17/21 -
17-7577547-C-T TP53 c.734G>A p.G245D Missense 7/11 -
13-32914814-C-T BRCA2 c.6322C>T p.R2108C Missense 11/27 -
7-55241707-G-A EGFR c.2155G>A p.G719S Missense 18/28 -
7-55242511-G-T EGFR c.2281G>T p.D761Y Missense 19/28 -
11-108205807-G-A ATM c.8122G>A p.D2708N Missense 55/63 -
7-140481403-C-G BRAF c.1405G>C p.G469R Missense 11/18 -
7-140453155-C-T BRAF c.1780G>A p.D594N Missense 15/18 -
1-115258744-C-T NRAS c.38G>A p.G13D Missense 2/7 -
7-140481402-C-A BRAF c.1406G>T p.G469V Missense 11/18 -
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 -
17-7578461-C-A TP53 c.469G>T p.V157F Missense 5/11 -
12-25380275-T-A KRAS c.183A>T p.Q61H Missense 3/5 -
17-7577534-C-A TP53 c.747G>T p.R249S Missense 7/11 -
17-7578502-A-G TP53 c.428T>C p.V143A Missense 5/11 -
17-7578269-G-A TP53 c.580C>T p.L194F Missense 6/11 -
17-7577099-C-T TP53 c.839G>A p.R280K Missense 8/11 -
11-108106406-G-A ATM c.341G>A p.R114K Missense 5/63 -
12-25398282-C-A KRAS c.37G>T p.G13C Missense 2/5 -
17-7578205-C-A TP53 c.644G>T p.S215I Missense 6/11 -
17-7579312-C-A TP53 c.375G>T p.T125= Synonymous 4/11 -
17-7577121-G-A TP53 c.817C>T p.R273C Missense 8/11 -
4-55141055-A-G PDGFRA c.1701A>G p.P567= Synonymous 12/23 -
17-7578212-G-A TP53 c.637C>T p.R213* Nonsense 6/11 -
17-7578463-C-G TP53 c.467G>C p.R156P Missense 5/11 -
17-7578208-T-C TP53 c.641A>G p.H214R Missense 6/11 -
17-7578550-G-A TP53 c.380C>T p.S127F Missense 5/11 -
17-7577098-T-A TP53 c.840A>T p.R280S Missense 8/11 -
17-7577084-T-A TP53 c.854A>T p.E285V Missense 8/11 -
17-7577105-G-A TP53 c.833C>T p.P278L Missense 8/11 -
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 -
17-7577568-C-T TP53 c.713G>A p.C238Y Missense 7/11 -
17-7577556-C-A TP53 c.725G>T p.C242F Missense 7/11 -
7-55249022-G-A EGFR c.2320G>A p.V774M Missense 20/28 -
17-7578526-C-A TP53 c.404G>T p.C135F Missense 5/11 -
17-7577094-G-A TP53 c.844C>T p.R282W Missense 8/11 -
17-7578527-A-G TP53 c.403T>C p.C135R Missense 5/11 -
3-41266112-T-G CTNNB1 c.109T>G p.S37A Missense 3/15 -
17-7578212-G-C TP53 c.637C>G p.R213G Missense 6/11 -
17-7578461-C-G TP53 c.469G>C p.V157L Missense 5/11 -
17-7577566-T-C TP53 c.715A>G p.N239D Missense 7/11 -
17-7577559-G-A TP53 c.722C>T p.S241F Missense 7/11 -
17-7577085-C-T TP53 c.853G>A p.E285K Missense 8/11 -
7-55241707-G-T EGFR c.2155G>T p.G719C Missense 18/28 -
17-7577079-C-A TP53 c.859G>T p.E287* Nonsense 8/11 -
12-112888210-G-A PTPN11 c.226G>A p.E76K Missense 3/16 -
12-25380285-G-A KRAS c.173C>T p.T58I Missense 3/5 -
12-25362830-A-T KRAS c.466T>A p.F156I Missense 5/5 -
11-534286-C-A HRAS c.37G>T p.G13C Missense 2/6 -
7-140453134-T-C BRAF c.1801A>G p.K601E Missense 15/18 -
7-55241708-G-C EGFR c.2156G>C p.G719A Missense 18/28 -
11-108117798-C-T ATM c.1009C>T p.R337C Missense 8/63 -
17-7577099-C-G TP53 c.839G>C p.R280T Missense 8/11 -
17-7577548-C-T TP53 c.733G>A p.G245S Missense 7/11 -
22-30038263-G-A NF2 c.436G>A p.V146I Missense 4/16 -
17-7577556-C-G TP53 c.725G>C p.C242S Missense 7/11 -
17-7578517-G-A TP53 c.413C>T p.A138V Missense 5/11 -
17-7578203-C-T TP53 c.646G>A p.V216M Missense 6/11 -
17-7578265-A-G TP53 c.584T>C p.I195T Missense 6/11 -
17-7577560-A-C TP53 c.721T>G p.S241A Missense 7/11 -
17-7577506-C-A TP53 c.775G>T p.D259Y Missense 7/11 -
17-7577535-C-A TP53 c.746G>T p.R249M Missense 7/11 -
17-7578442-T-C TP53 c.488A>G p.Y163C Missense 5/11 -
11-534242-A-G HRAS c.81T>C p.H27= Synonymous 2/6 -
5-112162891-C-T APC c.1495C>T p.R499* Nonsense 12/16 -
5-112128170-G-T APC c.673G>T p.E225* Nonsense 7/16 -
5-112173560-C-T APC c.2269C>T p.Q757* Nonsense 16/16 -
5-112090657-C-T APC c.70C>T p.R24* Nonsense 2/16 -
9-21971099-G-A CDKN2A c.259C>T p.R87W Missense 2/3 -
9-21971108-C-T CDKN2A c.250G>A p.D84N Missense 2/3 -
9-21971138-C-A CDKN2A c.220G>T p.D74Y Missense 2/3 -
9-21971062-C-G CDKN2A c.296G>C p.R99P Missense 2/3 -
17-7578239-C-A TP53 c.610G>T p.E204* Nonsense 6/11 -
17-7577090-C-G TP53 c.848G>C p.R283P Missense 8/11 -
13-48953730-C-T RB1 c.1333C>T p.R445* Nonsense 14/27 -
3-41266113-C-G CTNNB1 c.110C>G p.S37C Missense 3/15 -
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 -
3-41266137-C-T CTNNB1 c.134C>T p.S45F Missense 3/15 -
17-7576873-C-A TP53 c.973G>T p.G325* Nonsense 9/11 -
10-89720825-G-A PTEN c.976G>A p.D326N Missense 8/9 -
5-112175639-C-T APC c.4348C>T p.R1450* Nonsense 16/16 -
3-12626123-G-C RAF1 c.1837C>G p.L613V Missense 17/17 -
17-41243940-C-T BRCA1 c.3608G>A p.R1203Q Missense 10/23 -
19-1220488-A-C STK11 c.581A>C p.D194A Missense 4/10 -
17-7578427-T-C TP53 c.503A>G p.H168R Missense 5/11 -
3-178936095-A-G PIK3CA c.1637A>G p.Q546R Missense 10/21 -
17-7577120-C-G TP53 c.818G>C p.R273P Missense 8/11 -
9-21971120-G-A CDKN2A c.238C>T p.R80* Nonsense 2/3 -
3-41266101-C-T CTNNB1 c.98C>T p.S33F Missense 3/15 -
3-41266125-C-T CTNNB1 c.122C>T p.T41I Missense 3/15 -
13-49027133-C-T RB1 c.1700C>T p.S567L Missense 18/27 -
13-32944659-G-A BRCA2 c.8452G>A p.V2818I Missense 19/27 -
17-7579313-G-A TP53 c.374C>T p.T125M Missense 4/11 -
17-7578534-C-G TP53 c.396G>C p.K132N Missense 5/11 -
17-7578534-C-A TP53 c.396G>T p.K132N Missense 5/11 -
17-7577120-C-A TP53 c.818G>T p.R273L Missense 8/11 -
11-69466021-C-T CCND1 c.859C>T p.P287S Missense 5/5 -
19-1220649-G-T STK11 c.667G>T p.E223* Nonsense 5/10 -
19-1220640-C-T STK11 c.658C>T p.Q220* Nonsense 5/10 -
19-1223058-G-A STK11 c.995G>A p.W332* Nonsense 8/10 -
19-1220382-C-T STK11 c.475C>T p.Q159* Nonsense 4/10 -
7-140481411-C-A BRAF c.1397G>T p.G466V Missense 11/18 -
7-140481402-C-G BRAF c.1406G>C p.G469A Missense 11/18 -
19-1207021-C-T STK11 c.109C>T p.Q37* Nonsense 1/10 -
19-1220487-G-T STK11 c.580G>T p.D194Y Missense 4/10 -
7-140453193-T-C BRAF c.1742A>G p.N581S Missense 15/18 -
1-115258730-C-T NRAS c.52G>A p.A18T Missense 2/7 -
7-55241678-A-C EGFR c.2126A>C p.E709A Missense 18/28 -
12-25398284-CC-AA KRAS c.34_35delGGinsTT p.G12F Missense 2/5 -
7-55241679-AAAC-A EGFR c.2127_2129delAAC p.E709_T710delinsD MultiAAMissense 18/28 -
17-7578427-T-G TP53 c.503A>C p.H168P Missense 5/11 -
17-7577536-T-C TP53 c.745A>G p.R249G Missense 7/11 -
17-7574003-G-A TP53 c.1024C>T p.R342* Nonsense 10/11 -
17-7577102-C-T TP53 c.836G>A p.G279E Missense 8/11 -
17-7578235-T-C TP53 c.614A>G p.Y205C Missense 6/11 -
17-7578475-G-A TP53 c.455C>T p.P152L Missense 5/11 -
17-7578551-A-G TP53 c.379T>C p.S127P Missense 5/11 -
17-7577142-C-T TP53 c.796G>A p.G266R Missense 8/11 -
17-7577114-C-T TP53 c.824G>A p.C275Y Missense 8/11 -
17-7577559-G-T TP53 c.722C>A p.S241Y Missense 7/11 -
17-7578211-C-A TP53 c.638G>T p.R213L Missense 6/11 -
12-25398283-AC-CT KRAS c.35_36delinsAG p.G12E Missense 2/5 -
9-21974792-G-T CDKN2A c.35C>A p.S12* Nonsense 1/3 -
9-21974751-C-A CDKN2A c.76G>T p.E26* Nonsense 1/3 -
17-7578394-T-C TP53 c.536A>G p.H179R Missense 5/11 -
10-89685307-T-C PTEN c.202T>C p.Y68H Missense 3/9 -
17-7578508-C-T TP53 c.422G>A p.C141Y Missense 5/11 -
7-140453149-C-G BRAF c.1786G>C p.G596R Missense 15/18 -
7-140453154-T-A BRAF c.1781A>T p.D594V Missense 15/18 -
3-178921546-A-T PIK3CA c.1028A>T p.Y343F Missense 5/21 -
19-1221995-C-T STK11 c.910C>T p.R304W Missense 7/10 -
19-1220629-C-T STK11 c.647C>T p.S216F Missense 5/10 -
19-1207081-G-T STK11 c.169G>T p.E57* Nonsense 1/10 -
10-43613843-G-T RET c.2307G>T p.L769= Synonymous 13/20 -
17-7578457-C-T TP53 c.473G>A p.R158H Missense 5/11 -
7-55259533-C-T EGFR c.2591C>T p.A864V Missense 21/28 -
7-55259436-C-T EGFR c.2494C>T p.R832C Missense 21/28 -
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 -
17-7578263-G-A TP53 c.586C>T p.R196* Nonsense 6/11 -
12-25380276-T-A KRAS c.182A>T p.Q61L Missense 3/5 -
20-57484420-C-T GNAS c.601C>T p.R201C Missense 8/13 -
20-57484421-G-A GNAS c.602G>A p.R201H Missense 8/13 -
17-7577124-C-T TP53 c.814G>A p.V272M Missense 8/11 -
17-7578416-C-A TP53 c.514G>T p.V172F Missense 5/11 -
17-7578401-G-A TP53 c.529C>T p.P177S Missense 5/11 -
17-7578518-C-G TP53 c.412G>C p.A138P Missense 5/11 -
3-10191474-A-G VHL c.467A>G p.Y156C Missense 3/3 -
17-7577543-C-T TP53 c.738G>A p.M246I Missense 7/11 -
17-7577545-T-C TP53 c.736A>G p.M246V Missense 7/11 -
17-7577115-A-T TP53 c.823T>A p.C275S Missense 8/11 -
17-7577118-C-A TP53 c.820G>T p.V274F Missense 8/11 -
17-7577106-G-C TP53 c.832C>G p.P278A Missense 8/11 -
17-7577139-G-A TP53 c.799C>T p.R267W Missense 8/11 -
17-7577547-C-A TP53 c.734G>T p.G245V Missense 7/11 -
17-7578275-G-A TP53 c.574C>T p.Q192* Nonsense 6/11 -
17-7577539-G-C TP53 c.742C>G p.R248G Missense 7/11 -
17-7573982-C-A TP53 c.1045G>T p.E349* Nonsense 10/11 -
17-7578431-G-A TP53 c.499C>T p.Q167* Nonsense 5/11 -
17-7577511-A-T TP53 c.770T>A p.L257Q Missense 7/11 -
17-7578478-G-T TP53 c.452C>A p.P151H Missense 5/11 -
17-7578437-G-A TP53 c.493C>T p.Q165* Nonsense 5/11 -
17-7578413-C-T TP53 c.517G>A p.V173M Missense 5/11 -
17-7577100-T-C TP53 c.838A>G p.R280G Missense 8/11 -
17-7577106-G-A TP53 c.832C>T p.P278S Missense 8/11 -
2-209113113-G-A IDH1 c.394C>T p.R132C Missense 4/10 -
2-209113113-G-C IDH1 c.394C>G p.R132G Missense 4/10 -
2-209113112-C-A IDH1 c.395G>T p.R132L Missense 4/10 -
7-140453132-T-A BRAF c.1803A>T p.K601N Missense 15/18 -
7-140481417-C-A BRAF c.1391G>T p.G464V Missense 11/18 -
3-178952074-G-A PIK3CA c.3129G>A p.M1043I Missense 21/21 -
5-112176209-C-T APC c.4918C>T p.R1640W Missense 16/16 -
15-90631934-C-T IDH2 c.419G>A p.R140Q Missense 4/11 -
17-7579717-G-A TP53 c.79C>T p.P27S Missense 3/11 -
3-178927410-A-G PIK3CA c.1173A>G p.I391M Missense 7/21 -
17-7577108-C-A TP53 c.830G>T p.C277F Missense 8/11 -
11-534286-C-G HRAS c.37G>C p.G13R Missense 2/6 -
17-7577548-C-A TP53 c.733G>T p.G245C Missense 7/11 -
13-49037877-G-A RB1 c.2117G>A p.C706Y Missense 21/27 -
12-25378562-C-T KRAS c.436G>A p.A146T Missense 4/5 -
7-140453154-T-C BRAF c.1781A>G p.D594G Missense 15/18 -
7-140453145-A-T BRAF c.1790T>A p.L597Q Missense 15/18 -
7-140481411-C-G BRAF c.1397G>C p.G466A Missense 11/18 -
5-112175147-G-T APC c.3856G>T p.E1286* Nonsense 16/16 -
2-25457243-G-A DNMT3A c.2644C>T p.R882C Missense 23/23 -
3-12650355-C-T RAF1 c.491G>A p.R164Q Missense 5/17 -
11-534289-C-A HRAS c.34G>T p.G12C Missense 2/6 -
1-115258748-C-A NRAS c.34G>T p.G12C Missense 2/7 -
13-48955550-C-T RB1 c.1666C>T p.R556* Nonsense 17/27 -
13-48941720-C-T RB1 c.1030C>T p.Q344* Nonsense 10/27 -
13-48953760-C-T RB1 c.1363C>T p.R455* Nonsense 14/27 -
12-121431403-C-T HNF1A c.607C>T p.R203C Missense 3/10 -
17-7577022-G-A TP53 c.916C>T p.R306* Nonsense 8/11 -
17-7577538-C-G TP53 c.743G>C p.R248P Missense 7/11 -
10-89692883-C-T PTEN c.367C>T p.H123Y Missense 5/9 -
17-7578493-C-T TP53 c.437G>A p.W146* Nonsense 5/11 -
17-7577114-C-A TP53 c.824G>T p.C275F Missense 8/11 -
3-41266097-G-A CTNNB1 c.94G>A p.D32N Missense 3/15 -
17-7578469-C-A TP53 c.461G>T p.G154V Missense 5/11 -
17-7578427-T-A TP53 c.503A>T p.H168L Missense 5/11 -
17-7577025-T-A TP53 c.913A>T p.K305* Nonsense 8/11 -
17-7578476-G-T TP53 c.454C>A p.P152T Missense 5/11 -
17-7577127-C-A TP53 c.811G>T p.E271* Nonsense 8/11 -
17-7574026-C-A TP53 c.1001G>T p.G334V Missense 10/11 -
17-7578440-T-A TP53 c.490A>T p.K164* Nonsense 5/11 -
17-7574012-C-A TP53 c.1015G>T p.E339* Nonsense 10/11 -
19-1221301-CG-C STK11 c.827delG p.G276Afs*11 Frameshift 6/10 -
13-32906915-AAAAG-A BRCA2 c.1310_1313delAAGA p.K437Ifs*22 Frameshift 10/27 -
5-112175675-AAG-A APC c.4393_4394delAG p.S1465Wfs*3 Frameshift 16/16 -
10-123274680-G-A FGFR2 c.1238C>T p.P413L Missense 9/18 -
10-123279609-C-G FGFR2 c.823G>C p.E275Q Missense 7/18 -
10-123279612-C-T FGFR2 c.820G>A p.V274I Missense 7/18 -
10-123279621-C-T FGFR2 c.811G>A p.G271R Missense 7/18 -
10-123279677-G-A FGFR2 c.755C>T p.S252L Missense 7/18 -
10-123325014-T-C FGFR2 c.314A>G p.Y105C Missense 3/18 -
4-1806083-G-A FGFR3 c.1102G>A p.E368K Missense 9/18 -
4-1806186-C-G FGFR3 c.1205C>G p.P402R Missense 9/18 -
8-38274849-G-T FGFR1 c.1638C>A p.N546K Missense 12/18 -
8-38275448-T-C FGFR1 c.1492A>G p.I498V Missense 11/18 -
8-38275767-C-A FGFR1 c.1409G>T p.R470L Missense 10/18 -
4-1807887-A-G FGFR3 c.1946A>G p.K649R Missense 14/18 -
4-1808377-G-A FGFR3 c.2135G>A p.R712H Missense 16/18 -
8-38287355-C-T FGFR1 c.203G>A p.R68Q Missense 3/18 -
8-38287364-T-C FGFR1 c.194A>G p.N65S Missense 3/18 -
7-116339709-C-T MET c.571C>T p.R191W Missense 2/21 -
7-116339977-G-T MET c.839G>T p.R280M Missense 2/21 -
7-116340180-C-A MET c.1042C>A p.Q348K Missense 2/21 -
7-116340224-G-A MET c.1086G>A p.M362I Missense 2/21 -
7-116340224-G-C MET c.1086G>C p.M362I Missense 2/21 -
7-116340310-G-T MET c.1172G>T p.G391V Missense 2/21 -
7-116380088-G-C MET c.1477G>C p.E493Q Missense 4/21 -
7-116395479-G-A MET c.1772G>A p.R591Q Missense 6/21 -
7-116397532-A-G MET c.1904A>G p.N635S Missense 7/21 -
7-116397731-A-G MET c.2005A>G p.M669V Missense 8/21 -
22-30070871-G-A NF2 c.1387G>A p.E463K Missense 13/16 -
2-198266834-T-C SF3B1 c.2098A>G p.K700E Missense 15/25 -
17-7578524-G-A TP53 c.406C>T p.Q136* Nonsense 5/11 -
15-66727455-G-T MAP2K1 c.171G>T p.K57N Missense 2/11 -
15-66729153-T-A MAP2K1 c.361T>A p.C121S Missense 3/11 -
15-66729154-G-C MAP2K1 c.362G>C p.C121S Missense 3/11 -
17-7578526-C-T TP53 c.404G>A p.C135Y Missense 5/11 -
17-7578550-G-T TP53 c.380C>A p.S127Y Missense 5/11 -
18-48591919-G-A SMAD4 c.1082G>A p.R361H Missense 9/12 -
3-178952077-T-G PIK3CA c.3132T>G p.N1044K Missense 21/21 -
17-7578404-A-T TP53 c.526T>A p.C176S Missense 5/11 -
17-7578403-C-G TP53 c.527G>C p.C176S Missense 5/11 -
17-7577548-C-G TP53 c.733G>C p.G245R Missense 7/11 -
17-7577574-T-C TP53 c.707A>G p.Y236C Missense 7/11 -
17-7577547-C-G TP53 c.734G>C p.G245A Missense 7/11 -
17-7577121-G-T TP53 c.817C>A p.R273S Missense 8/11 -
17-7578268-A-C TP53 c.581T>G p.L194R Missense 6/11 -
12-25378561-G-A KRAS c.437C>T p.A146V Missense 4/5 -
17-7578272-G-A TP53 c.577C>T p.H193Y Missense 6/11 -
17-7578395-G-A TP53 c.535C>T p.H179Y Missense 5/11 -
17-7577550-C-A TP53 c.731G>T p.G244V Missense 7/11 -
17-7577535-C-T TP53 c.746G>A p.R249K Missense 7/11 -
17-7579329-T-C TP53 c.358A>G p.K120E Missense 4/11 -
17-7578382-G-C TP53 c.548C>G p.S183* Nonsense 5/11 -
17-7577567-A-C TP53 c.714T>G p.C238W Missense 7/11 -
17-7578503-C-T TP53 c.427G>A p.V143M Missense 5/11 -
17-7577536-T-A TP53 c.745A>T p.R249W Missense 7/11 -
17-7579373-C-A TP53 c.314G>T p.G105V Missense 4/11 -
17-7578271-T-A TP53 c.578A>T p.H193L Missense 6/11 -
17-7577556-C-T TP53 c.725G>A p.C242Y Missense 7/11 -
17-7577551-C-A TP53 c.730G>T p.G244C Missense 7/11 -
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 -
17-7578524-G-C TP53 c.406C>G p.Q136E Missense 5/11 -
17-7578442-T-G TP53 c.488A>C p.Y163S Missense 5/11 -
17-7577565-T-C TP53 c.716A>G p.N239S Missense 7/11 -
17-7578413-C-A TP53 c.517G>T p.V173L Missense 5/11 -
17-7578407-G-C TP53 c.523C>G p.R175G Missense 5/11 -
17-7577581-A-G TP53 c.700T>C p.Y234H Missense 7/11 -
3-178916936-G-A PIK3CA c.323G>A p.R108H Missense 2/21 -
3-178921495-C-T PIK3CA c.977C>T p.S326F Missense 5/21 -
10-89692918-G-C PTEN c.402G>C p.M134I Missense 5/9 -
18-48591904-C-T SMAD4 c.1067C>T p.P356L Missense 9/12 -
18-48575152-C-T SMAD4 c.346C>T p.Q116* Nonsense 3/12 -
17-37880257-C-G ERBB2 c.2301C>G p.I767M Missense 19/27 -
4-55141012-C-T PDGFRA c.1658C>T p.P553L Missense 12/23 -
17-7579349-A-C TP53 c.338T>G p.F113C Missense 4/11 -
17-7578496-A-G TP53 c.434T>C p.L145P Missense 5/11 -
19-1221270-G-T STK11 c.793G>T p.E265* Nonsense 6/10 -
17-7577535-C-G TP53 c.746G>C p.R249T Missense 7/11 -
17-7578394-T-A TP53 c.536A>T p.H179L Missense 5/11 -
17-7578388-C-G TP53 c.542G>C p.R181P Missense 5/11 -
17-7577141-C-A TP53 c.797G>T p.G266V Missense 8/11 -
19-4117550-A-C MAP2K2 c.170T>G p.F57C Missense 2/11 -
15-66727453-A-G MAP2K1 c.169A>G p.K57E Missense 2/11 -
17-7578542-G-A TP53 c.388C>T p.L130F Missense 5/11 -
17-7578371-C-T TP53 c.559G>A p.G187S Missense 5/11 -
17-7577575-A-G TP53 c.706T>C p.Y236H Missense 7/11 -
12-112888172-A-G PTPN11 c.188A>G p.Y63C Missense 3/16 -
17-41245410-G-T BRCA1 c.2138C>A p.S713* Nonsense 10/23 -
17-41245410-G-C BRCA1 c.2138C>G p.S713* Nonsense 10/23 -
17-7578457-C-G TP53 c.473G>C p.R158P Missense 5/11 -
4-55592073-G-T KIT c.1397G>T p.G466V Missense 9/21 -
7-140453193-T-A BRAF c.1742A>T p.N581I Missense 15/18 -
12-25380277-G-T KRAS c.181C>A p.Q61K Missense 3/5 -
11-108236096-T-C ATM c.9032T>C p.M3011T Missense 63/63 -
7-55249013-A-GGTT EGFR c.2311delinsGGTT p.N771delinsGY MultiAAMissense 20/28 -
2-178098953-C-G NFE2L2 c.92G>C p.G31A Missense 2/5 -
17-7577085-C-G TP53 c.853G>C p.E285Q Missense 8/11 -
17-7577046-C-A TP53 c.892G>T p.E298* Nonsense 8/11 -
2-29443591-C-T ALK c.3626G>A p.R1209Q Missense 23/29 -
17-7577093-C-G TP53 c.845G>C p.R282P Missense 8/11 -
19-1220698-G-A STK11 c.716G>A p.W239* Nonsense 5/10 -
19-1220699-G-A STK11 c.717G>A p.W239* Nonsense 5/10 -
3-178938934-G-A PIK3CA c.2176G>A p.E726K Missense 14/21 -
17-29541542-A-G NF1 c.1466A>G p.Y489C Missense 13/58 -
9-21971186-G-A CDKN2A c.172C>T p.R58* Nonsense 2/3 -
17-7577097-C-T TP53 c.841G>A p.D281N Missense 8/11 -
7-55242511-G-A EGFR c.2281G>A p.D761N Missense 19/28 -
17-7577575-A-C TP53 c.706T>G p.Y236D Missense 7/11 -
17-7577544-A-T TP53 c.737T>A p.M246K Missense 7/11 -
12-25380237-G-A KRAS c.221C>T p.T74I Missense 3/5 -
12-25378647-T-G KRAS c.351A>C p.K117N Missense 4/5 -
3-41266103-G-A CTNNB1 c.100G>A p.G34R Missense 3/15 -
17-7578455-C-G TP53 c.475G>C p.A159P Missense 5/11 -
17-7577058-C-A TP53 c.880G>T p.E294* Nonsense 8/11 -
1-27100919-C-T ARID1A c.4201C>T p.Q1401* Nonsense 18/20 -
1-120458147-G-A NOTCH2 c.7198C>T p.R2400* Nonsense 34/34 -
18-48575159-C-T SMAD4 c.353C>T p.A118V Missense 3/12 -
17-7578206-T-C TP53 c.643A>G p.S215G Missense 6/11 -
3-178916957-G-C PIK3CA c.344G>C p.R115P Missense 2/21 -
17-7578454-G-T TP53 c.476C>A p.A159D Missense 5/11 -
17-7577123-A-C TP53 c.815T>G p.V272G Missense 8/11 -
10-123247515-T-A FGFR2 c.1976A>T p.K659M Missense 14/18 -
2-178098954-C-T NFE2L2 c.91G>A p.G31R Missense 2/5 -
2-178098954-C-G NFE2L2 c.91G>C p.G31R Missense 2/5 -
22-22127164-C-T MAPK1 c.964G>A p.E322K Missense 7/9 -
17-7578190-T-G TP53 c.659A>C p.Y220S Missense 6/11 -
13-32936711-G-A BRCA2 c.7857G>A p.W2619* Nonsense 17/27 -
9-21971096-C-A CDKN2A c.262G>T p.E88* Nonsense 2/3 -
17-7579377-G-A TP53 c.310C>T p.Q104* Nonsense 4/11 -
3-178928079-G-A PIK3CA c.1357G>A p.E453K Missense 8/21 -
11-108121531-C-T ATM c.1339C>T p.R447* Nonsense 10/63 -
6-152332868-G-A ESR1 c.1174G>A p.V392I Missense 5/8 -
17-7578236-A-T TP53 c.613T>A p.Y205N Missense 6/11 -
18-48591888-G-C SMAD4 c.1051G>C p.D351H Missense 9/12 -
11-108236086-C-T ATM c.9022C>T p.R3008C Missense 63/63 -
17-7578553-T-C TP53 c.377A>G p.Y126C Missense 5/11 -
7-55220280-C-T EGFR c.670C>T p.R224C Missense 6/28 -
17-7578526-CA-C TP53 c.403delT p.C135Afs*35 Frameshift 5/11 -
17-7578370-C-A TP53 c.559+1G>T - IntronicSNV - 5/10
17-7577018-C-A TP53 c.919+1G>T - IntronicSNV - 8/10
17-7578176-C-A TP53 c.672+1G>T - IntronicSNV - 6/10
17-7578488-C-G TP53 c.442G>C p.D148H Missense 5/11 -
17-7577568-C-A TP53 c.713G>T p.C238F Missense 7/11 -
17-7577517-A-T TP53 c.764T>A p.I255N Missense 7/11 -
17-7577142-C-G TP53 c.796G>C p.G266R Missense 8/11 -
17-7578552-G-C TP53 c.378C>G p.Y126* Nonsense 5/11 -
17-7578505-G-A TP53 c.425C>T p.P142L Missense 5/11 -
17-7578404-A-G TP53 c.526T>C p.C176R Missense 5/11 -
17-7577532-G-A TP53 c.749C>T p.P250L Missense 7/11 -
17-7578496-A-C TP53 c.434T>G p.L145R Missense 5/11 -
17-7578479-G-T TP53 c.451C>A p.P151T Missense 5/11 -
17-7578419-C-A TP53 c.511G>T p.E171* Nonsense 5/11 -
17-7579358-C-T TP53 c.329G>A p.R110H Missense 4/11 -
1-27057835-C-T ARID1A c.1543C>T p.Q515* Nonsense 3/20 -
1-27057988-C-T ARID1A c.1696C>T p.Q566* Nonsense 3/20 -
3-178927974-G-A PIK3CA c.1252G>A p.E418K Missense 8/21 -
3-178928079-G-C PIK3CA c.1357G>C p.E453Q Missense 8/21 -
7-140477807-C-T BRAF c.1501G>A p.E501K Missense 12/18 -
7-116339486-C-G MET c.348C>G p.I116M Missense 2/21 -
17-7577555-G-T TP53 c.726C>A p.C242* Nonsense 7/11 -
17-7577097-C-A TP53 c.841G>T p.D281Y Missense 8/11 -
17-7578406-C-A TP53 c.524G>T p.R175L Missense 5/11 -
7-116418868-G-T MET c.3379G>T p.E1127* Nonsense 17/21 -
11-108117799-G-A ATM c.1010G>A p.R337H Missense 8/63 -
17-7576897-G-A TP53 c.949C>T p.Q317* Nonsense 9/11 -
17-7577082-C-A TP53 c.856G>T p.E286* Nonsense 8/11 -
17-7578257-C-A TP53 c.592G>T p.E198* Nonsense 6/11 -
17-7578179-C-A TP53 c.670G>T p.E224* Nonsense 6/11 -
17-7578400-G-C TP53 c.530C>G p.P177R Missense 5/11 -
17-7578536-T-C TP53 c.394A>G p.K132E Missense 5/11 -
17-7579529-C-T TP53 c.158G>A p.W53* Nonsense 4/11 -
17-29576111-C-T NF1 c.4084C>T p.R1362* Nonsense 30/58 -
2-29432665-G-A ALK c.3823C>T p.R1275* Nonsense 25/29 -
11-108236203-C-T ATM c.9139C>T p.R3047* Nonsense 63/63 -
20-31023702-C-T ASXL1 c.3187C>T p.Q1063* Nonsense 13/13 -
7-140453193-T-G BRAF c.1742A>C p.N581T Missense 15/18 -
9-21971110-T-C CDKN2A c.248A>G p.H83R Missense 2/3 -
9-21971109-G-C CDKN2A c.249C>G p.H83Q Missense 2/3 -
9-21970969-A-C CDKN2A c.389T>G p.L130R Missense 2/3 -
16-3820624-G-A CREBBP c.2827C>T p.Q943* Nonsense 14/31 -
9-21971111-G-A CDKN2A c.247C>T p.H83Y Missense 2/3 -
9-21971000-C-A CDKN2A c.358G>T p.E120* Nonsense 2/3 -
9-21971036-C-T CDKN2A c.322G>A p.D108N Missense 2/3 -
9-21971036-C-A CDKN2A c.322G>T p.D108Y Missense 2/3 -
12-58145430-C-A CDK4 c.71G>T p.R24L Missense 2/8 -
9-21971017-G-A CDKN2A c.341C>T p.P114L Missense 2/3 -
3-41266097-G-T CTNNB1 c.94G>T p.D32Y Missense 3/15 -
3-41266098-A-C CTNNB1 c.95A>C p.D32A Missense 3/15 -
19-10600510-C-A KEAP1 c.1345G>T p.E449* Nonsense 4/6 -
19-10602314-C-T KEAP1 c.1264G>A p.D422N Missense 3/6 -
15-66727443-T-A MAP2K1 c.159T>A p.F53L Missense 2/11 -
12-25378647-T-A KRAS c.351A>T p.K117N Missense 4/5 -
17-7578402-G-T TP53 c.528C>A p.C176* Nonsense 5/11 -
17-7578466-G-T TP53 c.464C>A p.T155N Missense 5/11 -
17-7576855-G-A TP53 c.991C>T p.Q331* Nonsense 9/11 -
17-7578188-C-A TP53 c.661G>T p.E221* Nonsense 6/11 -
17-7579355-A-G TP53 c.332T>C p.L111P Missense 4/11 -
17-7577130-A-T TP53 c.808T>A p.F270I Missense 8/11 -
17-7577106-G-T TP53 c.832C>A p.P278T Missense 8/11 -
17-7577144-A-G TP53 c.794T>C p.L265P Missense 8/11 -
17-7577112-C-G TP53 c.826G>C p.A276P Missense 8/11 -
17-7577559-G-C TP53 c.722C>G p.S241C Missense 7/11 -
17-7578458-G-C TP53 c.472C>G p.R158G Missense 5/11 -
2-178098806-G-T NFE2L2 c.239C>A p.T80K Missense 2/5 -
2-178098960-C-G NFE2L2 c.85G>C p.D29H Missense 2/5 -
2-178098945-G-C NFE2L2 c.100C>G p.R34G Missense 2/5 -
2-178098944-C-G NFE2L2 c.101G>C p.R34P Missense 2/5 -
2-178098810-C-T NFE2L2 c.235G>A p.E79K Missense 2/5 -
2-178098807-T-C NFE2L2 c.238A>G p.T80A Missense 2/5 -
17-29576134-C-G NF1 c.4107C>G p.Y1369* Nonsense 30/58 -
2-178098806-G-C NFE2L2 c.239C>G p.T80R Missense 2/5 -
2-178098944-C-T NFE2L2 c.101G>A p.R34Q Missense 2/5 -
17-29562747-G-A NF1 c.3827G>A p.R1276Q Missense 28/58 -
2-178098810-C-G NFE2L2 c.235G>C p.E79Q Missense 2/5 -
17-7577509-C-A TP53 c.772G>T p.E258* Nonsense 7/11 -
17-7578460-A-C TP53 c.470T>G p.V157G Missense 5/11 -
3-178952018-A-G PIK3CA c.3073A>G p.T1025A Missense 21/21 -
19-1220502-G-T STK11 c.595G>T p.E199* Nonsense 4/10 -
17-7578449-C-A TP53 c.481G>T p.A161S Missense 5/11 -
3-178916854-G-A PIK3CA c.241G>A p.E81K Missense 2/21 -
10-89692883-C-G PTEN c.367C>G p.H123D Missense 5/9 -
18-48593406-G-A SMAD4 c.1157G>A p.G386D Missense 10/12 -
18-48591918-C-G SMAD4 c.1081C>G p.R361G Missense 9/12 -
18-48593406-G-T SMAD4 c.1157G>T p.G386V Missense 10/12 -
18-48591889-A-G SMAD4 c.1052A>G p.D351G Missense 9/12 -
17-7578209-G-C TP53 c.640C>G p.H214D Missense 6/11 -
17-7579389-G-A TP53 c.298C>T p.Q100* Nonsense 4/11 -
17-7579374-C-G TP53 c.313G>C p.G105R Missense 4/11 -
17-7577127-C-G TP53 c.811G>C p.E271Q Missense 8/11 -
17-7578247-A-T TP53 c.602T>A p.L201* Nonsense 6/11 -
17-7579374-C-A TP53 c.313G>T p.G105C Missense 4/11 -
17-7578458-G-A TP53 c.472C>T p.R158C Missense 5/11 -
17-7576853-C-A TP53 c.993G>T p.Q331H Missense 9/11 -
17-7576853-C-G TP53 c.993G>C p.Q331H Missense 9/11 -
17-7577138-C-G TP53 c.800G>C p.R267P Missense 8/11 -
17-7574017-C-A TP53 c.1010G>T p.R337L Missense 10/11 -
17-7578177-C-A TP53 c.672G>T p.E224D Missense 6/11 -
17-7578412-A-C TP53 c.518T>G p.V173G Missense 5/11 -
17-7578395-G-T TP53 c.535C>A p.H179N Missense 5/11 -
17-7577127-C-T TP53 c.811G>A p.E271K Missense 8/11 -
17-7577095-G-C TP53 c.843C>G p.D281E Missense 8/11 -
17-7577095-G-T TP53 c.843C>A p.D281E Missense 8/11 -
17-7577555-G-C TP53 c.726C>G p.C242W Missense 7/11 -
17-7578402-G-C TP53 c.528C>G p.C176W Missense 5/11 -
17-7577572-T-C TP53 c.709A>G p.M237V Missense 7/11 -
17-7577097-C-G TP53 c.841G>C p.D281H Missense 8/11 -
17-7579355-A-C TP53 c.332T>G p.L111R Missense 4/11 -
17-7579314-T-G TP53 c.373A>C p.T125P Missense 4/11 -
17-7577581-A-T TP53 c.700T>A p.Y234N Missense 7/11 -
17-7579355-A-T TP53 c.332T>A p.L111Q Missense 4/11 -
17-7577142-C-A TP53 c.796G>T p.G266* Nonsense 8/11 -
17-7577099-C-A TP53 c.839G>T p.R280I Missense 8/11 -
17-7578262-C-G TP53 c.587G>C p.R196P Missense 6/11 -
9-135771828-G-A TSC1 c.3289C>T p.R1097C Missense 23/23 -
1-156843599-G-A NTRK1 c.1025G>A p.R342Q Missense 8/17 -
7-55221800-G-A EGFR c.844G>A p.E282K Missense 7/28 -
3-178938775-T-A PIK3CA c.2017T>A p.S673T Missense 14/21 -
5-112179630-G-C APC c.8339G>C p.R2780T Missense 16/16 -
5-112116593-G-A APC c.638G>A p.R213Q Missense 6/16 -
11-108192065-G-A ATM c.6490G>A p.E2164K Missense 45/63 -
11-108119728-T-G ATM c.1134T>G p.S378R Missense 9/63 -
11-108119728-T-A ATM c.1134T>A p.S378R Missense 9/63 -
11-108119726-A-C ATM c.1132A>C p.S378R Missense 9/63 -
2-29430136-G-A ALK c.3839C>T p.A1280V Missense 26/29 -
2-29446209-G-A ALK c.3358C>T p.R1120W Missense 20/29 -
19-10602493-C-T KEAP1 c.1085G>A p.R362Q Missense 3/6 -
17-29560133-C-G NF1 c.3610C>G p.R1204G Missense 27/58 -
17-29652960-G-A NF1 c.4958G>A p.R1653H Missense 37/58 -
17-29653041-A-G NF1 c.5039A>G p.Y1680C Missense 37/58 -
17-7577506-C-T TP53 c.775G>A p.D259N Missense 7/11 -
17-7576854-T-C TP53 c.992A>G p.Q331R Missense 9/11 -
17-7574021-C-A TP53 c.1006G>T p.E336* Nonsense 10/11 -
17-29657472-C-T NF1 c.5768C>T p.T1923M Missense 39/58 -
10-43610001-G-A RET c.1953G>A p.L651= Synonymous 11/20 -
7-55242433-G-A EGFR c.2203G>A p.G735S Missense 19/28 -
17-29661939-G-A NF1 c.5896G>A p.A1966T Missense 40/58 -
7-140477854-A-C BRAF c.1454T>G p.L485W Missense 12/18 -
9-135802637-G-C TSC1 c.161C>G p.S54C Missense 4/23 -
17-29483074-A-G NF1 c.134A>G p.N45S Missense 2/58 -
17-7579871-C-A TP53 c.42G>T p.L14= Synonymous 2/11 -
17-7579871-C-T TP53 c.42G>A p.L14= Synonymous 2/11 -
17-7579871-C-G TP53 c.42G>C p.L14= Synonymous 2/11 -
17-7579873-G-A TP53 c.40C>T p.L14= Synonymous 2/11 -
17-29533304-C-T NF1 c.1307C>T p.S436L Missense 12/58 -
17-29533389-G-A NF1 c.1392G>A p.P464= Synonymous 12/58 -
17-29533389-G-T NF1 c.1392G>T p.P464= Synonymous 12/58 -
17-29553474-G-T NF1 c.2023G>T p.G675* Nonsense 18/58 -
17-41201182-C-G BRCA1 c.5362G>C p.G1788R Missense 21/23 -
19-1220410-A-G STK11 c.503A>G p.H168R Missense 4/10 -
17-29556080-G-A NF1 c.2447G>A p.R816Q Missense 21/58 -
17-41203124-C-A BRCA1 c.5288G>T p.G1763V Missense 20/23 -
7-55249012-C-CGGG EGFR c.2310_2311insGGG p.D770_N771insG InFrameInsertion 20/28 -
10-123325127-G-T FGFR2 c.201C>A p.A67= Synonymous 3/18 -
10-123325127-G-C FGFR2 c.201C>G p.A67= Synonymous 3/18 -
10-123325127-G-A FGFR2 c.201C>T p.A67= Synonymous 3/18 -
17-7579485-C-A TP53 c.202G>T p.E68* Nonsense 4/11 -
10-43609036-G-A RET c.1792G>A p.E598K Missense 10/20 -
17-7578530-A-T TP53 c.400T>A p.F134I Missense 5/11 -
10-43609941-ACGAGCT-A RET c.1893_1898delCGAGCT p.D631_L633delinsE MultiAAMissense 11/20 -
10-89711893-C-T PTEN c.511C>T p.Q171* Nonsense 6/9 -
17-37880997-G-GTGT ERBB2 c.2326_2327insTGT p.G776delinsVC MultiAAMissense 20/27 -
17-37880997-G-GTTT ERBB2 c.2326_2327insTTT p.G776delinsVC MultiAAMissense 20/27 -
18-48591888-G-A SMAD4 c.1051G>A p.D351N Missense 9/12 -
19-1221243-G-T STK11 c.766G>T p.E256* Nonsense 6/10 -
17-7577566-T-TA TP53 c.714dupT p.N239* Nonsense 7/11 -
9-139390629-G-A NOTCH1 c.7562C>T p.S2521F Missense 34/34 -
9-21971177-C-A CDKN2A c.181G>T p.E61* Nonsense 2/3 -
9-21971153-C-A CDKN2A c.205G>T p.E69* Nonsense 2/3 -
18-48603032-C-T SMAD4 c.1333C>T p.R445* Nonsense 11/12 -
18-48593405-G-C SMAD4 c.1156G>C p.G386R Missense 10/12 -
5-112175162-C-T APC c.3871C>T p.Q1291* Nonsense 16/16 -
19-1207092-C-G STK11 c.180C>G p.Y60* Nonsense 1/10 -
11-108236087-G-A ATM c.9023G>A p.R3008H Missense 63/63 -
17-7577528-G-C TP53 c.753C>G p.I251M Missense 7/11 -
17-7579373-C-T TP53 c.314G>A p.G105D Missense 4/11 -
17-7578410-T-A TP53 c.520A>T p.R174W Missense 5/11 -
17-7578455-C-A TP53 c.475G>T p.A159S Missense 5/11 -
10-89624284-G-T PTEN c.58G>T p.G20* Nonsense 1/9 -
11-108137906-C-T ATM c.2475C>T p.F825= Synonymous 17/63 -
13-32912671-G-A BRCA2 c.4179G>A p.A1393= Synonymous 11/27 -
17-29576014-A-G NF1 c.3987A>G p.S1329= Synonymous 30/58 -
17-29533389-G-C NF1 c.1392G>C p.P464= Synonymous 12/58 -
1-27101453-C-T ARID1A c.4735C>T p.Q1579* Nonsense 18/20 -
17-41223116-C-T BRCA1 c.4815G>A p.L1605= Synonymous 15/23 -
17-41243501-C-T BRCA1 c.4047G>A p.T1349= Synonymous 10/23 -
17-41243501-C-A BRCA1 c.4047G>T p.T1349= Synonymous 10/23 -
12-25398286-A-T KRAS c.33T>A p.A11= Synonymous 2/5 -
12-25398286-A-G KRAS c.33T>C p.A11= Synonymous 2/5 -
12-25398286-A-C KRAS c.33T>G p.A11= Synonymous 2/5 -
19-1221278-C-T STK11 c.801C>T p.I267= Synonymous 6/10 -
19-1221278-C-A STK11 c.801C>A p.I267= Synonymous 6/10 -
11-108122645-G-C ATM c.1689G>C p.M563I Missense 11/63 -
18-48591901-A-G SMAD4 c.1064A>G p.D355G Missense 9/12 -
18-48591918-C-A SMAD4 c.1081C>A p.R361S Missense 9/12 -
17-7578262-C-T TP53 c.587G>A p.R196Q Missense 6/11 -
17-7578400-G-A TP53 c.530C>T p.P177L Missense 5/11 -
17-29654605-C-T NF1 c.5357C>T p.S1786L Missense 38/58 -
11-108117849-C-T ATM c.1060C>T p.H354Y Missense 8/63 -
17-41219707-G-A BRCA1 c.4992C>T p.L1664= Synonymous 16/23 -
17-41219707-G-C BRCA1 c.4992C>G p.L1664= Synonymous 16/23 -
17-41223118-A-G BRCA1 c.4813T>C p.L1605= Synonymous 15/23 -
17-41243934-C-T BRCA1 c.3614G>A p.G1205E Missense 10/23 -
17-41244636-T-C BRCA1 c.2912A>G p.H971R Missense 10/23 -
17-41246181-A-G BRCA1 c.1367T>C p.I456T Missense 10/23 -
17-37883770-G-A ERBB2 c.3382G>A p.V1128I Missense 26/27 -
15-66729179-C-A MAP2K1 c.387C>A p.F129L Missense 3/11 -
19-1221989-C-T STK11 c.904C>T p.Q302* Nonsense 7/10 -
19-1220489-C-G STK11 c.582C>G p.D194E Missense 4/10 -
4-106157845-C-T TET2 c.2746C>T p.Q916* Nonsense 3/11 -
12-25398220-A-C KRAS c.99T>G p.D33E Missense 2/5 -
17-41223166-G-A BRCA1 c.4765C>T p.R1589C Missense 15/23 -
17-41245624-C-G BRCA1 c.1924G>C p.D642H Missense 10/23 -
3-37059048-C-T MLH1 c.842C>T p.A281V Missense 10/19 -
7-55223550-C-T EGFR c.917C>T p.S306L Missense 8/28 -
7-140439656-C-G BRAF c.2083G>C p.E695Q Missense 17/18 -
17-41256963-C-G BRCA1 c.223G>C p.E75Q Missense 5/23 -
17-41256897-T-C BRCA1 c.289A>G p.T97A Missense 5/23 -
17-41222988-T-G BRCA1 c.4943A>C p.K1648T Missense 15/23 -
11-108168072-G-C ATM c.4968G>C p.K1656N Missense 33/63 -
17-41219700-T-C BRCA1 c.4999A>G p.K1667E Missense 16/23 -
12-112926885-C-T PTPN11 c.1505C>T p.S502L Missense 13/16 -
17-41219637-C-A BRCA1 c.5062G>T p.V1688F Missense 16/23 -
17-41209086-C-G BRCA1 c.5260G>C p.E1754Q Missense 19/23 -
17-41209080-G-T BRCA1 c.5266C>A p.Q1756K Missense 19/23 -
17-41209073-C-T BRCA1 c.5273G>A p.R1758K Missense 19/23 -
1-27023338-C-A ARID1A c.444C>A p.Y148* Nonsense 1/20 -
17-7578392-C-A TP53 c.538G>T p.E180* Nonsense 5/11 -
7-140439695-G-A BRAF c.2044C>T p.R682W Missense 17/18 -
17-7578254-C-A TP53 c.595G>T p.G199* Nonsense 6/11 -
11-108205768-G-A ATM c.8083G>A p.G2695S Missense 55/63 -
13-48916766-G-A RB1 c.296G>A p.W99* Nonsense 3/27 -
19-1207078-G-T STK11 c.166G>T p.G56W Missense 1/10 -
17-7577524-TGAG-T TP53 c.754_756delCTC p.L252del InFrameDeletion 7/11 -
17-7579533-G-A TP53 c.154C>T p.Q52* Nonsense 4/11 -
13-48953743-G-T RB1 c.1346G>T p.G449V Missense 14/27 -
10-89692961-C-T PTEN c.445C>T p.Q149* Nonsense 5/9 -
7-55220293-C-T EGFR c.683C>T p.P228L Missense 6/28 -
15-88476268-G-C NTRK3 c.1864C>G p.H622D Missense 16/20 -
13-32907343-T-C BRCA2 c.1728T>C p.N576= Synonymous 10/27 -
9-5073762-G-T JAK2 c.1841G>T p.G614V Missense 14/25 -
17-7577564-G-C TP53 c.717C>G p.N239K Missense 7/11 -
1-27097658-G-T ARID1A c.3247G>T p.G1083C Missense 12/20 -
3-181430411-G-T SOX2 c.263G>T p.R88L Missense 1/1 -
19-1220706-G-T STK11 c.724G>T p.G242W Missense 5/10 -
19-10602335-G-A KEAP1 c.1243C>T p.R415C Missense 3/6 -
13-49039385-C-A RB1 c.2370C>A p.Y790* Nonsense 23/27 -
13-49039385-C-G RB1 c.2370C>G p.Y790* Nonsense 23/27 -
7-140481402-CC-AG BRAF c.1405_1406delGGinsCT p.G469L Missense 11/18 -
17-7578530-A-C TP53 c.400T>G p.F134V Missense 5/11 -
7-41729271-C-T INHBA c.1258G>A p.V420M Missense 3/3 -
17-7577057-TC-T TP53 c.880delG p.E294Sfs*51 Frameshift 8/11 -
17-29553477-A-AC NF1 c.2033dupC p.I679Dfs*21 Frameshift 18/58 -
17-7578221-TTC-T TP53 c.626_627delGA p.R209Kfs*6 Frameshift 6/11 -
17-7577557-AG-A TP53 c.723delC p.C242Afs*5 Frameshift 7/11 -
17-7578474-CG-C TP53 c.455delC p.P152Rfs*18 Frameshift 5/11 -
10-89720798-GTACT-G PTEN c.955_958delACTT p.T319* Frameshift 8/9 -
17-7572973-CG-C TP53 c.1135delC p.R379Afs*43 Frameshift 11/11 -
17-7578199-AC-A TP53 c.649delG p.V217Wfs*30 Frameshift 6/11 -
17-7578546-AG-A TP53 c.383delC p.P128Lfs*42 Frameshift 5/11 -
17-7579546-CG-C TP53 c.140delC p.P47Rfs*76 Frameshift 4/11 -
17-7573999-CT-C TP53 c.1028delA p.E343Gfs*2 Frameshift 10/11 -
19-1207064-TG-T STK11 c.157delG p.D53Tfs*11 Frameshift 1/10 -
17-7578256-TC-T TP53 c.592delG p.E198Kfs*49 Frameshift 6/11 -
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 -
19-1207092-AC-A STK11 c.180delC p.Y60* Frameshift 1/10 -
17-7578246-C-CA TP53 c.602dupT p.L201Ffs*8 Frameshift 6/11 -
9-21971193-GC-G CDKN2A c.164delG p.G55Afs*91 Frameshift 2/3 -
2-198267491-C-G SF3B1 c.1866G>C p.E622D Missense 14/25 -
2-198267491-C-A SF3B1 c.1866G>T p.E622D Missense 14/25 -
3-178917005-A-G PIK3CA c.352+40A>G - IntronicSNV - 2/20
10-89690847-G-A PTEN c.253+1G>A - IntronicSNV - 4/8
17-7578175-A-C TP53 c.672+2T>G - IntronicSNV - 6/10
7-55241633-C-T EGFR c.2081C>T p.P694L Missense 18/28 -
17-7578466-G-A TP53 c.464C>T p.T155I Missense 5/11 -
17-7577514-G-T TP53 c.767C>A p.T256K Missense 7/11 -
9-21971109-G-T CDKN2A c.249C>A p.H83Q Missense 2/3 -
4-55594197-C-T KIT c.1900C>T p.R634W Missense 13/21 -
17-7578181-G-C TP53 c.668C>G p.P223R Missense 6/11 -
5-112090644-G-C APC c.57G>C p.E19D Missense 2/16 -
5-112090644-G-T APC c.57G>T p.E19D Missense 2/16 -
17-7578280-G-C TP53 c.569C>G p.P190R Missense 6/11 -
13-32915157-A-G BRCA2 c.6665A>G p.Y2222C Missense 11/27 -
19-1220433-G-A STK11 c.526G>A p.D176N Missense 4/10 -
19-1222987-G-T STK11 c.924G>T p.W308C Missense 8/10 -
19-1222987-G-C STK11 c.924G>C p.W308C Missense 8/10 -
7-55242422-G-T EGFR c.2192G>T p.W731L Missense 19/28 -
8-128750537-G-C MYC c.74G>C p.R25T Missense 2/3 -
17-7578260-C-T TP53 c.589G>A p.V197M Missense 6/11 -
17-7574005-A-C TP53 c.1022T>G p.F341C Missense 10/11 -
17-7574017-C-G TP53 c.1010G>C p.R337P Missense 10/11 -
13-48939097-G-A RB1 c.929G>A p.G310E Missense 9/27 -
17-41246494-C-A BRCA1 c.1054G>T p.E352* Nonsense 10/23 -
17-7577561-A-C TP53 c.720T>G p.S240R Missense 7/11 -
19-1220395-G-A STK11 c.488G>A p.G163D Missense 4/10 -
17-7578242-C-T TP53 c.607G>A p.V203M Missense 6/11 -
19-1207118-C-A STK11 c.206C>A p.S69* Nonsense 1/10 -
1-27057955-C-T ARID1A c.1663C>T p.Q555* Nonsense 3/20 -
17-7578513-C-T TP53 c.417G>A p.K139= Synonymous 5/11 -
17-7579536-C-A TP53 c.151G>T p.E51* Nonsense 4/11 -
17-29652988-G-A NF1 c.4986G>A p.W1662* Nonsense 37/58 -
3-10188200-C-G VHL c.343C>G p.H115D Missense 2/3 -
3-12645687-G-C RAF1 c.782C>G p.P261R Missense 7/17 -
11-108114793-G-T ATM c.610G>T p.G204* Nonsense 6/63 -
17-29556877-C-T NF1 c.2875C>T p.Q959* Nonsense 22/58 -
17-29553501-C-T NF1 c.2050C>T p.Q684* Nonsense 18/58 -
9-21971142-G-T CDKN2A c.216C>A p.C72* Nonsense 2/3 -
2-178098973-C-G NFE2L2 c.72G>C p.W24C Missense 2/5 -
9-21971116-G-A CDKN2A c.242C>T p.P81L Missense 2/3 -
18-48604664-C-T SMAD4 c.1486C>T p.R496C Missense 12/12 -
20-57484595-C-G GNAS c.679C>G p.Q227E Missense 9/13 -
17-7579503-C-A TP53 c.184G>T p.E62* Nonsense 4/11 -
17-7577587-T-A TP53 c.694A>T p.I232F Missense 7/11 -
7-148508749-T-C EZH2 c.1915A>G p.K639E Missense 16/20 -
17-7579345-CAAG-C TP53 c.339_341delCTT p.F113del InFrameDeletion 4/11 -
7-140453185-G-A BRAF c.1750C>T p.L584F Missense 15/18 -
3-12650388-T-A RAF1 c.458A>T p.D153V Missense 5/17 -
1-27105748-G-T ARID1A c.5359G>T p.E1787* Nonsense 20/20 -
11-108216627-C-T ATM c.8576C>T p.S2859F Missense 58/63 -
9-139412639-G-T NOTCH1 c.1205C>A p.S402* Nonsense 7/34 -
3-178951932-A-G PIK3CA c.2987A>G p.N996S Missense 21/21 -
19-1207162-A-T STK11 c.250A>T p.K84* Nonsense 1/10 -
15-41023332-A-G RAD51 c.976A>G p.M326V Missense 10/10 -
7-55249011-A-C EGFR c.2309A>C p.D770A Missense 20/28 -
19-1220691-G-T STK11 c.709G>T p.D237Y Missense 5/10 -
19-1220400-G-T STK11 c.493G>T p.E165* Nonsense 4/10 -
19-1220715-C-T STK11 c.733C>T p.L245F Missense 5/10 -
3-41266160-G-A CTNNB1 c.157G>A p.E53K Missense 3/15 -
17-7579362-A-C TP53 c.325T>G p.F109V Missense 4/11 -
7-55259515-T-A EGFR c.2573T>A p.L858Q Missense 21/28 -
12-4409144-C-A CCND2 c.839C>A p.T280N Missense 5/5 -
12-4409147-C-G CCND2 c.842C>G p.P281R Missense 5/5 -
19-1221994-C-G STK11 c.909C>G p.I303M Missense 7/10 -
9-21970971-G-C CDKN2A c.387C>G p.Y129* Nonsense 2/3 -
9-21971003-C-A CDKN2A c.355G>T p.E119* Nonsense 2/3 -
10-89692878-C-A PTEN c.362C>A p.A121E Missense 5/9 -
1-162724601-G-T DDR2 c.373G>T p.D125Y Missense 5/18 -
17-7578270-A-T TP53 c.579T>A p.H193Q Missense 6/11 -
17-29556173-T-G NF1 c.2540T>G p.L847R Missense 21/58 -
17-7577520-A-C TP53 c.761T>G p.I254S Missense 7/11 -
18-48575186-G-T SMAD4 c.380G>T p.C127F Missense 3/12 -
5-112175166-C-T APC c.3875C>T p.T1292M Missense 16/16 -
4-55593687-C-T KIT c.1753C>T p.P585S Missense 11/21 -
4-55593663-C-T KIT c.1729C>T p.P577S Missense 11/21 -
11-108150267-C-T ATM c.3334C>T p.P1112S Missense 23/63 -
1-11174395-A-C MTOR c.7280T>G p.L2427R Missense 53/58 -
5-112170822-C-T APC c.1918C>T p.R640W Missense 15/16 -
17-7579584-A-AG TP53 c.102_102dupC p.P36Afs*7 SpliceAcceptorInsertion 4/11 -
3-178917561-G-A PIK3CA c.436G>A p.V146I Missense 3/21 -
1-27101186-G-T ARID1A c.4468G>T p.E1490* Nonsense 18/20 -
7-55248991-C-CTTTCAAGAGGCA EGFR c.2290_2291insTTCAAGAGGCAT p.A763_Y764insFQEA InFrameInsertion 20/28 -
17-37873630-C-T ERBB2 c.1795C>T p.R599C Missense 15/27 -
5-112178880-G-A APC c.7589G>A p.R2530Q Missense 16/16 -
7-55241694-G-T EGFR c.2142G>T p.K714N Missense 18/28 -
17-7579329-T-A TP53 c.358A>T p.K120* Nonsense 4/11 -
17-7579400-G-A TP53 c.287C>T p.S96F Missense 4/11 -
7-55241713-G-A EGFR c.2161G>A p.G721S Missense 18/28 -
7-55211168-G-C EGFR c.411G>C p.M137I Missense 3/28 -
22-30070841-C-T NF2 c.1357C>T p.Q453* Nonsense 13/16 -
11-108175549-C-T ATM c.5644C>T p.R1882* Nonsense 37/63 -
13-32913641-G-T BRCA2 c.5149G>T p.E1717* Nonsense 11/27 -
17-7578544-G-A TP53 c.386C>T p.A129V Missense 5/11 -
7-55211034-C-A EGFR c.277C>A p.L93I Missense 3/28 -
3-178947838-T-A PIK3CA c.2713T>A p.C905S Missense 19/21 -
17-41245471-C-G BRCA1 c.2077G>C p.D693H Missense 10/23 -
18-48593466-C-T SMAD4 c.1217C>T p.A406V Missense 10/12 -
19-1220703-G-C STK11 c.721G>C p.A241P Missense 5/10 -
19-1207146-G-T STK11 c.234G>T p.K78N Missense 1/10 -
4-55602719-C-T KIT c.2540C>T p.T847M Missense 18/21 -
1-11303294-C-T MTOR c.1289G>A p.R430H Missense 9/58 -
20-57484596-A-C GNAS c.680A>C p.Q227P Missense 9/13 -
18-48575132-T-C SMAD4 c.326T>C p.L109P Missense 3/12 -
1-27106261-G-A ARID1A c.5872G>A p.E1958K Missense 20/20 -
7-55223633-C-T EGFR c.1000C>T p.R334C Missense 8/28 -
18-48591892-G-A SMAD4 c.1055G>A p.G352E Missense 9/12 -
11-108123635-G-T ATM c.1894G>T p.E632* Nonsense 12/63 -
3-178952030-G-A PIK3CA c.3085G>A p.D1029N Missense 21/21 -
9-139391377-G-A NOTCH1 c.6814C>T p.R2272C Missense 34/34 -
18-48575219-C-G SMAD4 c.413C>G p.S138* Nonsense 3/12 -
3-12653551-C-T RAF1 c.218G>A p.R73Q Missense 3/17 -
2-178098962-A-G NFE2L2 c.83T>C p.I28T Missense 2/5 -
17-7577512-G-C TP53 c.769C>G p.L257V Missense 7/11 -
7-55241688-C-G EGFR c.2136C>G p.F712L Missense 18/28 -
7-55242510-C-T EGFR c.2280C>T p.L760= Synonymous 19/28 -
7-55242510-C-G EGFR c.2280C>G p.L760= Synonymous 19/28 -
7-55242510-C-A EGFR c.2280C>A p.L760= Synonymous 19/28 -
19-17947961-T-G JAK3 c.1763A>C p.H588P Missense 13/24 -
1-27097790-C-T ARID1A c.3379C>T p.Q1127* Nonsense 12/20 -
17-37864656-G-A ERBB2 c.308G>A p.R103Q Missense 3/27 -
13-49027160-C-G RB1 c.1727C>G p.S576* Nonsense 18/27 -
19-1221948-G-T STK11 c.863G>T p.G288V Missense 7/10 -
19-1207105-G-T STK11 c.193G>T p.E65* Nonsense 1/10 -
17-29560230-G-A NF1 c.3707G>A p.W1236* Nonsense 27/58 -
17-7577547-CC-AA TP53 c.733_734delGGinsTT p.G245F Missense 7/11 -
4-106193748-C-T TET2 c.4210C>T p.R1404* Nonsense 10/11 -
17-7578523-T-G TP53 c.407A>C p.Q136P Missense 5/11 -
17-7578522-T-G TP53 c.408A>C p.Q136H Missense 5/11 -
7-55249038-G-T EGFR c.2336G>T p.G779V Missense 20/28 -
3-37067254-C-T MLH1 c.1165C>T p.R389W Missense 12/19 -
11-69465970-G-A CCND1 c.808G>A p.A270T Missense 5/5 -
15-88472634-C-T NTRK3 c.1921G>A p.D641N Missense 17/20 -
9-139390794-G-A NOTCH1 c.7397C>T p.T2466M Missense 34/34 -
7-55249014-A-G EGFR c.2312A>G p.N771S Missense 20/28 -
1-27101495-C-T ARID1A c.4777C>T p.R1593W Missense 18/20 -
17-29546036-CAG-C NF1 c.1541_1542delAG p.Q514Rfs*43 Frameshift 14/58 -
13-32954022-CA-C BRCA2 c.9097delA p.T3033Lfs*29 Frameshift 23/27 -
18-48584513-TG-T SMAD4 c.692delG p.G231Afs*10 Frameshift 6/12 -
17-7578523-TG-T TP53 c.406delC p.Q136Nfs*34 Frameshift 5/11 -
17-7579419-AG-A TP53 c.267delC p.S90Pfs*33 Frameshift 4/11 -
1-27105930-TG-T ARID1A c.5548delG p.D1850Tfs*33 Frameshift 20/20 -
1-27106803-AC-A ARID1A c.6420delC p.F2141Sfs*59 Frameshift 20/20 -
1-27088787-AG-A ARID1A c.2402delG p.G801Vfs*32 Frameshift 7/20 -
13-49030459-CCT-C RB1 c.1939_1940delCT p.L647Ffs*5 Frameshift 19/27 -
17-7577069-CG-C TP53 c.868delC p.R290Afs*55 Frameshift 8/11 -
9-21974720-GC-G CDKN2A c.106delG p.A36Rfs*17 Frameshift 1/3 -
17-7579717-GA-G TP53 c.78delT p.P27Lfs*17 Frameshift 3/11 -
11-108236216-G-T ATM c.9152G>T p.G3051V Missense 63/63 -
11-108164205-G-T ATM c.4776+1G>T - IntronicSNV - 31/62
17-7577515-T-G TP53 c.766A>C p.T256P Missense 7/11 -
11-108117756-A-G ATM c.967A>G p.I323V Missense 8/63 -
13-48954351-T-C RB1 c.1472T>C p.L491P Missense 16/27 -
9-21970900-C-A CDKN2A c.457+1G>T - IntronicSNV - 2/2
1-27100928-C-T ARID1A c.4210C>T p.Q1404* Nonsense 18/20 -
1-27101099-C-T ARID1A c.4381C>T p.R1461* Nonsense 18/20 -
10-123239400-G-T FGFR2 c.2437C>A p.P813T Missense 18/18 -
12-4409144-C-T CCND2 c.839C>T p.T280I Missense 5/5 -
12-4409154-C-A CCND2 c.849C>A p.D283E Missense 5/5 -
17-41243473-G-T BRCA1 c.4075C>A p.Q1359K Missense 10/23 -
17-7572941-G-T TP53 c.1168C>A p.P390T Missense 11/11 -
2-29416300-C-T ALK c.4653G>A p.P1551= Synonymous 29/29 -
2-29416313-G-A ALK c.4640C>T p.T1547I Missense 29/29 -
4-55161320-G-A PDGFRA c.3151G>A p.E1051K Missense 23/23 -
4-55161379-C-T PDGFRA c.3210C>T p.I1070= Synonymous 23/23 -
7-55266471-C-T EGFR c.2763C>T p.S921= Synonymous 23/28 -
1-115256532-C-A NRAS c.179G>T p.G60V Missense 3/7 -
9-21971006-C-G CDKN2A c.352G>C p.A118P Missense 2/3 -
4-1806163-G-A FGFR3 c.1182G>A p.T394= Synonymous 9/18 -
4-1806163-G-T FGFR3 c.1182G>T p.T394= Synonymous 9/18 -
4-1806163-G-C FGFR3 c.1182G>C p.T394= Synonymous 9/18 -
17-29684326-C-T NF1 c.7909C>T p.R2637* Nonsense 54/58 -
9-21974799-C-A CDKN2A c.28G>T p.E10* Nonsense 1/3 -
22-22160227-C-T MAPK1 c.404G>A p.R135K Missense 3/9 -
17-7578413-C-G TP53 c.517G>C p.V173L Missense 5/11 -
17-7577524-T-G TP53 c.757A>C p.T253P Missense 7/11 -
17-7577073-G-C TP53 c.865C>G p.L289V Missense 8/11 -
7-55221740-G-T EGFR c.784G>T p.D262Y Missense 7/28 -
4-55138600-G-A PDGFRA c.1277G>A p.G426D Missense 9/23 -
13-32913240-T-C BRCA2 c.4748T>C p.I1583T Missense 11/27 -
4-55597516-A-G KIT c.2164A>G p.M722V Missense 15/21 -
19-1207009-G-T STK11 c.97G>T p.E33* Nonsense 1/10 -
1-27023407-A-C ARID1A c.513A>C p.Q171H Missense 1/20 -
13-32912671-G-C BRCA2 c.4179G>C p.A1393= Synonymous 11/27 -
13-32912671-G-T BRCA2 c.4179G>T p.A1393= Synonymous 11/27 -
13-32950846-C-T BRCA2 c.8672C>T p.T2891I Missense 21/27 -
13-32971077-C-T BRCA2 c.9544C>T p.H3182Y Missense 26/27 -
17-41226527-G-A BRCA1 c.4496C>T p.S1499F Missense 14/23 -
17-41226456-G-A BRCA1 c.4567C>T p.P1523S Missense 14/23 -
13-32911509-G-A BRCA2 c.3017G>A p.G1006E Missense 11/27 -
13-32914356-C-T BRCA2 c.5864C>T p.S1955L Missense 11/27 -
17-41245848-T-C BRCA1 c.1700A>G p.N567S Missense 10/23 -
13-32929078-A-G BRCA2 c.7088A>G p.Y2363C Missense 14/27 -
13-32936747-G-C BRCA2 c.7893G>C p.L2631= Synonymous 17/27 -
13-32936745-C-T BRCA2 c.7891C>T p.L2631= Synonymous 17/27 -
13-32936747-G-T BRCA2 c.7893G>T p.L2631= Synonymous 17/27 -
13-32936747-G-A BRCA2 c.7893G>A p.L2631= Synonymous 17/27 -
19-1223079-C-T STK11 c.1016C>T p.P339L Missense 8/10 -
13-32972745-C-A BRCA2 c.10095C>A p.V3365= Synonymous 27/27 -
13-32972745-C-G BRCA2 c.10095C>G p.V3365= Synonymous 27/27 -
13-32972745-C-T BRCA2 c.10095C>T p.V3365= Synonymous 27/27 -
13-32914259-G-A BRCA2 c.5767G>A p.D1923N Missense 11/27 -
13-32944596-G-A BRCA2 c.8389G>A p.D2797N Missense 19/27 -
3-12645694-A-T RAF1 c.775T>A p.S259T Missense 7/17 -
5-112173731-T-C APC c.2440T>C p.F814L Missense 16/16 -
5-112173733-T-A APC c.2442T>A p.F814L Missense 16/16 -
5-112173733-T-G APC c.2442T>G p.F814L Missense 16/16 -
7-55249010-G-GGTT EGFR c.2308_2309insGTT p.D770delinsGY MultiAAMissense 20/28 -
8-38274849-G-C FGFR1 c.1638C>G p.N546K Missense 12/18 -
17-7578377-T-C TP53 c.553A>G p.S185G Missense 5/11 -
17-7578400-G-T TP53 c.530C>A p.P177H Missense 5/11 -
17-7577540-G-T TP53 c.741C>A p.N247K Missense 7/11 -
17-7577111-G-A TP53 c.827C>T p.A276V Missense 8/11 -
17-7578463-C-A TP53 c.467G>T p.R156L Missense 5/11 -
17-7578224-CT-C TP53 c.625delA p.R209Efs*38 Frameshift 6/11 -
17-7578468-GC-G TP53 c.461delG p.G154Afs*16 Frameshift 5/11 -
17-7578429-CTG-C TP53 c.499_500delCA p.Q167Afs*13 Frameshift 5/11 -
9-21971132-CG-C CDKN2A c.225delC p.A76Pfs*70 Frameshift 2/3 -
9-21971123-TGA-T CDKN2A c.233_234delTC p.L78Hfs*41 Frameshift 2/3 -
7-116339390-C-G MET c.252C>G p.Y84* Nonsense 2/21 -
7-116339390-C-A MET c.252C>A p.Y84* Nonsense 2/21 -
19-1221962-G-T STK11 c.877G>T p.E293* Nonsense 7/10 -
19-11132437-C-T SMARCA4 c.2653C>T p.R885C Missense 19/35 -
20-57484597-G-C GNAS c.681G>C p.Q227H Missense 9/13 -
12-25378622-C-G KRAS c.376G>C p.D126H Missense 4/5 -
17-7574024-G-A TP53 c.1003C>T p.R335C Missense 10/11 -
3-37067192-C-T MLH1 c.1103C>T p.S368L Missense 12/19 -
7-55233129-G-T EGFR c.1879G>T p.G627* Nonsense 15/28 -
11-108192069-CTG-C ATM c.6498_6499delGT p.Y2167Ffs*7 Frameshift 45/63 -
19-1223086-G-T STK11 c.1023G>T p.L341F Missense 8/10 -
1-27100093-G-T ARID1A c.3889G>T p.E1297* Nonsense 16/20 -
18-48581157-C-A SMAD4 c.461C>A p.S154* Nonsense 5/12 -
18-48581157-C-G SMAD4 c.461C>G p.S154* Nonsense 5/12 -
1-27094386-G-T ARID1A c.3094G>T p.E1032* Nonsense 11/20 -
3-178947901-G-A PIK3CA c.2776G>A p.D926N Missense 19/21 -
17-29483087-C-A NF1 c.147C>A p.Y49* Nonsense 2/58 -
7-116422151-T-C MET c.3632T>C p.M1211T Missense 18/21 -
17-41228622-G-A BRCA1 c.4367C>T p.T1456I Missense 13/23 -
2-29416300-C-A ALK c.4653G>T p.P1551= Synonymous 29/29 -
9-21974695-G-T CDKN2A c.132C>A p.Y44* Nonsense 1/3 -
17-37866359-G-T ERBB2 c.664G>T p.G222C Missense 6/27 -
5-112178155-G-A APC c.6864G>A p.Q2288= Synonymous 16/16 -
1-27099905-C-T ARID1A c.3784C>T p.R1262C Missense 15/20 -
5-112177975-G-C APC c.6684G>C p.R2228S Missense 16/16 -
11-533476-C-T HRAS c.427G>A p.E143K Missense 4/6 -
9-21971056-C-A CDKN2A c.302G>T p.G101V Missense 2/3 -
1-27100165-C-T ARID1A c.3961C>T p.P1321S Missense 16/20 -
1-27057647-C-T ARID1A c.1355C>T p.P452L Missense 3/20 -
17-7577138-C-A TP53 c.800G>T p.R267L Missense 8/11 -
5-112175514-A-T APC c.4223A>T p.E1408V Missense 16/16 -
7-55273130-C-T EGFR c.3453C>T p.F1151= Synonymous 28/28 -
9-21971132-C-T CDKN2A c.226G>A p.A76T Missense 2/3 -
3-178927486-G-A PIK3CA c.1249G>A p.E417K Missense 7/21 -
7-55240789-C-T EGFR c.2033C>T p.T678M Missense 17/28 -
3-178917494-G-T PIK3CA c.369G>T p.M123I Missense 3/21 -
9-139401758-C-A NOTCH1 c.3642G>T p.Q1214H Missense 22/34 -
18-48575189-T-C SMAD4 c.383T>C p.V128A Missense 3/12 -
10-89692887-G-T PTEN c.371G>T p.C124F Missense 5/9 -
3-178916645-G-T PIK3CA c.32G>T p.W11L Missense 2/21 -
3-10191547-C-A VHL c.540C>A p.I180= Synonymous 3/3 -
3-10191547-C-T VHL c.540C>T p.I180= Synonymous 3/3 -
9-139391907-C-T NOTCH1 c.6284G>A p.R2095H Missense 34/34 -
1-115252323-G-A NRAS c.317C>T p.S106L Missense 4/7 -
10-123274832-C-T FGFR2 c.1086G>A p.A362= Synonymous 9/18 -
10-123274832-C-G FGFR2 c.1086G>C p.A362= Synonymous 9/18 -
10-123274832-C-A FGFR2 c.1086G>T p.A362= Synonymous 9/18 -
13-49039464-G-T RB1 c.2449G>T p.E817* Nonsense 23/27 -
9-5081768-G-T JAK2 c.2478G>T p.R826S Missense 19/25 -
4-106158010-G-T TET2 c.2911G>T p.E971* Nonsense 3/11 -
4-106158275-C-G TET2 c.3176C>G p.S1059* Nonsense 3/11 -
4-55561693-C-A KIT c.83C>A p.S28Y Missense 2/21 -
13-32913326-C-T BRCA2 c.4834C>T p.P1612S Missense 11/27 -
13-32907433-G-A BRCA2 c.1818G>A p.P606= Synonymous 10/27 -
1-27097808-C-T ARID1A c.3397C>T p.P1133S Missense 12/20 -
13-32972575-G-A BRCA2 c.9925G>A p.E3309K Missense 27/27 -
19-30308165-G-A CCNE1 c.302G>A p.R101K Missense 5/12 -
19-1222992-G-A STK11 c.929G>A p.R310Q Missense 8/10 -
11-108200976-A-G ATM c.7343A>G p.D2448G Missense 50/63 -
10-43610170-G-A RET c.2122G>A p.A708T Missense 11/20 -
17-7578262-CGGATAAGAT-C TP53 c.578_586delATCTTATCC p.H193_I195del InFrameDeletion 6/11 -
13-32929161-G-A BRCA2 c.7171G>A p.E2391K Missense 14/27 -
1-27100075-G-T ARID1A c.3871G>T p.E1291* Nonsense 16/20 -
1-156844404-G-A NTRK1 c.1237G>A p.E413K Missense 10/17 -
15-88476307-C-T NTRK3 c.1825G>A p.D609N Missense 16/20 -
9-21971093-C-T CDKN2A c.265G>A p.G89S Missense 2/3 -
2-178098933-C-G NFE2L2 c.112G>C p.D38H Missense 2/5 -
9-139399159-G-A NOTCH1 c.4984C>T p.R1662W Missense 26/34 -
18-48575186-G-A SMAD4 c.380G>A p.C127Y Missense 3/12 -
19-1220443-C-A STK11 c.536C>A p.P179Q Missense 4/10 -
11-108236114-T-C ATM c.9050T>C p.L3017P Missense 63/63 -
7-55210019-T-G EGFR c.129T>G p.T43= Synonymous 2/28 -
X-47030582-G-C RBM10 c.357G>C p.E119D Missense 4/24 -
X-47030582-G-T RBM10 c.357G>T p.E119D Missense 4/24 -
7-55240695-G-A EGFR c.1939G>A p.A647T Missense 17/28 -
17-41243961-G-T BRCA1 c.3587C>A p.T1196K Missense 10/23 -
17-29562747-G-T NF1 c.3827G>T p.R1276L Missense 28/58 -
9-21974730-C-A CDKN2A c.97G>T p.E33* Nonsense 1/3 -
17-7578452-TG-T TP53 c.477delC p.M160Wfs*10 Frameshift 5/11 -
1-27059213-C-A ARID1A c.1850C>A p.S617* Nonsense 4/20 -
11-108160506-T-G ATM c.4414T>G p.L1472V Missense 29/63 -
15-88576130-G-T NTRK3 c.1543C>A p.Q515K Missense 14/20 -
17-37881150-A-G ERBB2 c.2479A>G p.M827V Missense 20/27 -
19-1220405-C-A STK11 c.498C>A p.Y166* Nonsense 4/10 -
9-21974744-A-T CDKN2A c.83T>A p.V28E Missense 1/3 -
13-32906831-G-A BRCA2 c.1216G>A p.A406T Missense 10/27 -
7-55233054-G-A EGFR c.1804G>A p.E602K Missense 15/28 -
19-1207064-T-TG STK11 c.157_157dup p.D53Gfs*110 Frameshift 1/10 -
12-112888219-C-A PTPN11 c.235C>A p.Q79K Missense 3/16 -
9-21974676-C-T CDKN2A c.150+1G>A - IntronicSNV - 1/2
9-139390734-G-A NOTCH1 c.7457C>T p.S2486L Missense 34/34 -
18-48591865-C-A SMAD4 c.1028C>A p.S343* Nonsense 9/12 -
3-178921447-G-A PIK3CA c.929G>A p.R310H Missense 5/21 -
1-27105793-G-T ARID1A c.5404G>T p.E1802* Nonsense 20/20 -
17-37866689-G-A ERBB2 c.856G>A p.E286K Missense 7/27 -
5-112179318-C-T APC c.8027C>T p.T2676I Missense 16/16 -
12-58145021-G-A CDK4 c.323C>T p.P108L Missense 3/8 -
17-37868267-C-T ERBB2 c.988C>T p.R330W Missense 8/27 -
13-48953736-A-T RB1 c.1339A>T p.K447* Nonsense 14/27 -
1-27097802-C-T ARID1A c.3391C>T p.Q1131* Nonsense 12/20 -
12-25362832-GCAT-G KRAS c.461_463delATG p.D154del InFrameDeletion 5/5 -
1-27106661-G-A ARID1A c.6272G>A p.W2091* Nonsense 20/20 -
1-27106662-G-A ARID1A c.6273G>A p.W2091* Nonsense 20/20 -
17-29557369-G-A NF1 c.3082G>A p.D1028N Missense 23/58 -
5-112162856-G-A APC c.1460G>A p.G487E Missense 12/16 -
7-55259469-G-T EGFR c.2527G>T p.V843L Missense 21/28 -
1-27023927-G-A ARID1A c.1033G>A p.A345T Missense 1/20 -
7-55268959-G-A EGFR c.3025G>A p.D1009N Missense 25/28 -
18-48575219-C-A SMAD4 c.413C>A p.S138* Nonsense 3/12 -
7-116418932-G-A MET c.3443G>A p.R1148Q Missense 17/21 -
11-108201101-C-T ATM c.7468C>T p.L2490F Missense 50/63 -
19-1220715-C-G STK11 c.733C>G p.L245V Missense 5/10 -
5-112177311-A-G APC c.6020A>G p.Y2007C Missense 16/16 -
19-1219344-C-A STK11 c.396C>A p.C132* Nonsense 3/10 -
10-43613833-C-A RET c.2297C>A p.P766Q Missense 13/20 -
10-43617398-G-T RET c.2735G>T p.R912L Missense 16/20 -
4-55127262-G-T PDGFRA c.50G>T p.G17V Missense 3/23 -
17-7572982-G-T TP53 c.1127C>A p.S376Y Missense 11/11 -
13-32911943-A-T BRCA2 c.3451A>T p.I1151F Missense 11/27 -
1-155874286-A-C RIT1 c.245T>G p.F82C Missense 5/6 -
2-29416299-C-G ALK c.4654G>C p.G1552R Missense 29/29 -
2-29416299-C-T ALK c.4654G>A p.G1552R Missense 29/29 -
9-5069145-G-A JAK2 c.1450G>A p.E484K Missense 11/25 -
19-1221261-A-T STK11 c.784A>T p.K262* Nonsense 6/10 -
9-21971137-T-C CDKN2A c.220_221delinsCC p.D74G Missense 2/3 -
17-29557873-G-T NF1 c.3127G>T p.E1043* Nonsense 24/58 -
4-106158275-C-A TET2 c.3176C>A p.S1059* Nonsense 3/11 -
9-135772122-C-T TSC1 c.2995G>A p.G999R Missense 23/23 -
11-108100002-C-T ATM c.283C>T p.Q95* Nonsense 4/63 -
7-55273254-G-A EGFR c.3577G>A p.E1193K Missense 28/28 -
9-21971129-T-G CDKN2A c.229A>C p.T77P Missense 2/3 -
17-29509657-G-C NF1 c.862G>C p.V288L Missense 8/58 -
17-7579363-AC-A TP53 c.323delG p.G108Vfs*15 Frameshift 4/11 -
19-1220705-TG-T STK11 c.727delG p.V243Sfs*44 Frameshift 5/10 -
17-7574002-TC-T TP53 c.1025delG p.R342Qfs*3 Frameshift 10/11 -
17-29556987-G-C NF1 c.2985G>C p.L995= Synonymous 22/58 -
17-29576006-G-T NF1 c.3979G>T p.E1327* Nonsense 30/58 -
15-88472565-C-T NTRK3 c.1990G>A p.A664T Missense 17/20 -
12-15654796-A-C PTPRO c.904A>C p.S302R Missense 5/27 -
2-178098813-C-A NFE2L2 c.232G>T p.E78* Nonsense 2/5 -
3-134670654-G-T EPHB1 c.565G>T p.V189F Missense 3/16 -
19-11129650-C-T SMARCA4 c.2456C>T p.A819V Missense 17/35 -
17-29556985-C-T NF1 c.2983C>T p.L995= Synonymous 22/58 -
X-70347886-G-T MED12 c.3125G>T p.S1042I Missense 22/45 -
3-89480438-G-T EPHA3 c.2275G>T p.V759L Missense 13/17 -
4-55133888-G-A PDGFRA c.1101G>A p.V367= Synonymous 7/23 -
17-29670153-G-T NF1 c.7189G>T p.G2397W Missense 48/58 -
12-112926892-G-T PTPN11 c.1512G>T p.M504I Missense 13/16 -
4-55144674-C-A PDGFRA c.2148C>A p.S716R Missense 15/23 -
1-162743265-C-T DDR2 c.1735C>T p.L579F Missense 14/18 -
17-29546078-G-T NF1 c.1583G>T p.G528V Missense 14/58 -
1-27105675-GGAA-G ARID1A c.5299_5301delGAA p.E1767del InFrameDeletion 20/20 -
17-7579479-GC-G TP53 c.208delG p.A70Lfs*53 Frameshift 4/11 -
1-27100933-GC-G ARID1A c.4220delC p.P1407Qfs*74 Frameshift 18/20 -
17-7577074-A-AT TP53 c.863_863dupA p.N288Kfs*18 Frameshift 8/11 -
13-48934198-T-A RB1 c.653T>A p.L218* Nonsense 7/27 -
13-48934198-T-G RB1 c.653T>G p.L218* Nonsense 7/27 -
17-37868298-G-A ERBB2 c.1019G>A p.R340Q Missense 8/27 -
17-29556139-G-T NF1 c.2506G>T p.E836* Nonsense 21/58 -
19-11123712-C-T SMARCA4 c.2362C>T p.Q788* Nonsense 16/35 -
10-89692776-A-C PTEN c.260A>C p.Q87P Missense 5/9 -
17-29486070-C-T NF1 c.247C>T p.Q83* Nonsense 3/58 -
11-108150305-C-G ATM c.3372C>G p.Y1124* Nonsense 23/63 -
11-108205751-A-G ATM c.8066A>G p.E2689G Missense 55/63 -
13-48916735-G-T RB1 c.265G>T p.G89* Nonsense 3/27 -
13-32910986-G-A BRCA2 c.2494G>A p.E832K Missense 11/27 -
13-48954379-T-G RB1 c.1498+2T>G - IntronicSNV - 16/26
13-49027248-G-T RB1 c.1814+1G>T - IntronicSNV - 18/26
19-1222006-G-T STK11 c.920+1G>T - IntronicSNV - 7/9
11-108138018-G-C ATM c.2587G>C p.D863H Missense 17/63 -
15-88476387-C-T NTRK3 c.1745G>A p.R582Q Missense 16/20 -
17-37880986-A-ACGTGATGGCGAG ERBB2 c.2324_2325insGAGCGTGATGGC p.A775_G776insSVMA InFrameInsertion 20/27 -
18-48591933-C-T SMAD4 c.1096C>T p.Q366* Nonsense 9/12 -
17-37880997-G-TTGT ERBB2 c.2326delinsTTGT p.G776delinsLC MultiAAMissense 20/27 -
9-21971093-C-A CDKN2A c.265G>T p.G89C Missense 2/3 -
5-112177379-C-G APC c.6088C>G p.L2030V Missense 16/16 -
19-1220428-A-T STK11 c.521A>T p.H174L Missense 4/10 -
1-27089676-C-T ARID1A c.2632C>T p.Q878* Nonsense 8/20 -
13-32930681-C-G BRCA2 c.7552C>G p.L2518V Missense 15/27 -
17-37881318-A-G ERBB2 c.2510A>G p.E837G Missense 21/27 -
3-178928070-C-G PIK3CA c.1348C>G p.H450D Missense 8/21 -
9-139399237-C-T NOTCH1 c.4906G>A p.E1636K Missense 26/34 -
6-152332865-C-T ESR1 c.1171C>T p.L391F Missense 5/8 -
2-25470479-C-T DNMT3A c.995G>A p.G332E Missense 8/23 -
1-27107152-G-A ARID1A c.6763G>A p.E2255K Missense 20/20 -
1-27059239-G-T ARID1A c.1876G>T p.E626* Nonsense 4/20 -
10-43615023-C-T RET c.2437C>T p.R813W Missense 14/20 -
19-1220394-G-C STK11 c.487G>C p.G163R Missense 4/10 -
8-128751167-C-T MYC c.704C>T p.S235L Missense 2/3 -
8-128752788-G-A MYC c.949G>A p.V317I Missense 3/3 -
4-55138629-A-T PDGFRA c.1306A>T p.T436S Missense 9/23 -
1-27057820-C-T ARID1A c.1528C>T p.Q510* Nonsense 3/20 -
7-128845164-C-A SMO c.658C>A p.P220T Missense 3/12 -
19-1220706-G-A STK11 c.724G>A p.G242R Missense 5/10 -
5-112174602-C-A APC c.3311C>A p.S1104* Nonsense 16/16 -
5-112174602-C-G APC c.3311C>G p.S1104* Nonsense 16/16 -
9-139399927-C-A NOTCH1 c.4421G>T p.W1474L Missense 25/34 -
13-48955539-G-A RB1 c.1655G>A p.R552Q Missense 17/27 -
17-29663484-C-A NF1 c.6140C>A p.S2047* Nonsense 41/58 -
17-29657489-G-T NF1 c.5785G>T p.E1929* Nonsense 39/58 -
7-55268968-G-A EGFR c.3034G>A p.D1012N Missense 25/28 -
17-7577144-A-T TP53 c.794T>A p.L265Q Missense 8/11 -
17-37687226-C-A CDK12 c.4130C>A p.S1377* Nonsense 14/14 -
1-27105967-G-T ARID1A c.5578G>T p.E1860* Nonsense 20/20 -
11-108188140-A-G ATM c.6239A>G p.Y2080C Missense 43/63 -
9-135772038-G-A TSC1 c.3079C>T p.R1027W Missense 23/23 -
17-7577540-G-C TP53 c.741C>G p.N247K Missense 7/11 -
13-32905084-A-C BRCA2 c.710A>C p.D237A Missense 9/27 -
17-7579504-CA-C TP53 c.183delT p.D61Efs*62 Frameshift 4/11 -
19-1221293-C-G STK11 c.816C>G p.Y272* Nonsense 6/10 -
7-55225421-A-G EGFR c.1273A>G p.I425V Missense 11/28 -
5-112177550-G-A APC c.6259G>A p.D2087N Missense 16/16 -
17-29548886-C-T NF1 c.1660C>T p.Q554* Nonsense 15/58 -
1-156848975-G-A NTRK1 c.1867G>A p.G623S Missense 15/17 -
20-57484405-G-A GNAS c.586G>A p.D196N Missense 8/13 -
17-29665764-C-T NF1 c.6862C>T p.Q2288* Nonsense 46/58 -
19-1221976-G-C STK11 c.891G>C p.R297S Missense 7/10 -
19-1221976-G-T STK11 c.891G>T p.R297S Missense 7/10 -
19-1222985-T-C STK11 c.922T>C p.W308R Missense 8/10 -
9-139395247-C-T NOTCH1 c.5691G>A p.T1897= Synonymous 31/34 -
9-139395247-C-A NOTCH1 c.5691G>T p.T1897= Synonymous 31/34 -
9-139395247-C-G NOTCH1 c.5691G>C p.T1897= Synonymous 31/34 -
9-139390663-G-A NOTCH1 c.7528C>T p.L2510F Missense 34/34 -
19-1207108-G-A STK11 c.196G>A p.V66M Missense 1/10 -
15-88576210-A-G NTRK3 c.1463T>C p.I488T Missense 14/20 -
19-6586056-A-G CD70 c.557T>C p.F186S Missense 3/3 -
19-1220706-G-C STK11 c.724G>C p.G242R Missense 5/10 -
11-108199908-T-C ATM c.7250T>C p.L2417P Missense 49/63 -
10-89720711-G-A PTEN c.862G>A p.E288K Missense 8/9 -
13-32907066-TA-T BRCA2 c.1454delA p.K485Sfs*24 Frameshift 10/27 -
11-32456465-C-A WT1 c.427G>T p.E148* Nonsense 1/10 -
4-55129836-C-T PDGFRA c.370C>T p.P124S Missense 4/23 -
17-7579397-A-C TP53 c.290T>G p.V97G Missense 4/11 -
4-55161379-C-A PDGFRA c.3210C>A p.I1070= Synonymous 23/23 -
7-55210048-G-A EGFR c.158G>A p.R53K Missense 2/28 -
8-117868489-C-A RAD21 c.853G>T p.E285* Nonsense 8/14 -
11-69456265-A-T CCND1 c.184A>T p.T62S Missense 1/5 -
9-139390764-A-C NOTCH1 c.7427T>G p.V2476G Missense 34/34 -
4-55133587-G-A PDGFRA c.891G>A p.R297= Synonymous 6/23 -
11-108213973-G-T ATM c.8293G>T p.G2765C Missense 57/63 -
4-55575630-G-A KIT c.1156G>A p.E386K Missense 7/21 -
4-55144678-C-T PDGFRA c.2152C>T p.R718W Missense 15/23 -
17-37884112-G-A ERBB2 c.3583G>A p.E1195K Missense 27/27 -
17-37863260-A-G ERBB2 c.91A>G p.M31V Missense 2/27 -
1-11298498-C-T MTOR c.1963G>A p.V655M Missense 12/58 -
17-7578470-C-CG TP53 c.459dupC p.G154Rfs*27 Frameshift 5/11 -
17-7577100-T-TC TP53 c.835_835dupG p.R280Efs*26 Frameshift 8/11 -
17-7577048-TG-T TP53 c.889delC p.H297Tfs*48 Frameshift 8/11 -
17-7579316-C-CA TP53 c.370dupT p.C124Lfs*25 Frameshift 4/11 -
3-142177868-C-T ATR c.7435G>A p.E2479K Missense 44/47 -