PMID: 34797250

Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical and translational gastroenterology
Cowan, Robert W RW, Pratt, Erica D ED, Kang, Jin Muk JM, Zhao, Jun J, Wilhelm, Joshua J JJ, Abdulla, Muhamad M, Qiao, Edmund M EM, Brennan, Luke P LP, Ulintz, Peter J PJ, Bellin, Melena D MD, Rhim, Andrew D AD
2021-11-18

2213 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
22-24176287-G-A SMARCB1 c.1119-41G>A - IntronicSNV - 8/8
7-55241755-G-A EGFR c.2184+19G>A - IntronicSNV - 18/27
11-108225661-A-G ATM c.8850+60A>G - IntronicSNV - 61/62
12-25362854-C-T KRAS c.451-9G>A - IntronicSNV - 4/4
7-55249063-G-A EGFR c.2361G>A p.Q787= Synonymous 20/28 -
13-49033844-C-T RB1 c.1981C>T p.R661W Missense 20/27 -
7-55259508-T-C EGFR c.2566T>C p.F856L Missense 21/28 -
9-21970916-C-T CDKN2A c.442G>A p.A148T Missense 2/3 -
5-112173250-G-A APC c.1959G>A p.R653= Synonymous 16/16 -
11-108138003-T-C ATM c.2572T>C p.F858L Missense 17/63 -
7-142458451-A-T PRSS1 c.86A>T p.N29I Missense 2/5 -
17-7578210-T-C TP53 c.639A>G p.R213= Synonymous 6/11 -
17-7578210-T-A TP53 c.639A>T p.R213= Synonymous 6/11 -
17-7577524-T-C TP53 c.757A>G p.T253A Missense 7/11 -
7-142459789-G-A PRSS1 c.365G>A p.R122H Missense 3/5 -
5-112175240-G-C APC c.3949G>C p.E1317Q Missense 16/16 -
5-112175770-G-A APC c.4479G>A p.T1493= Synonymous 16/16 -
4-55141055-A-G PDGFRA c.1701A>G p.P567= Synonymous 12/23 -
10-43609936-T-C RET c.1888T>C p.C630R Missense 11/20 -
17-7577509-C-T TP53 c.772G>A p.E258K Missense 7/11 -
7-55233089-C-T EGFR c.1839C>T p.A613= Synonymous 15/28 -
7-55233025-T-C EGFR c.1775T>C p.V592A Missense 15/28 -
7-55259450-C-T EGFR c.2508C>T p.R836= Synonymous 21/28 -
7-55259524-T-C EGFR c.2582T>C p.L861P Missense 21/28 -
17-7578250-T-C TP53 c.599A>G p.N200S Missense 6/11 -
17-7578467-T-C TP53 c.463A>G p.T155A Missense 5/11 -
11-108123555-A-G ATM c.1814A>G p.H605R Missense 12/63 -
10-43609948-T-C RET c.1900T>C p.C634R Missense 11/20 -
11-108119823-T-C ATM c.1229T>C p.V410A Missense 9/63 -
19-1207055-A-G STK11 c.143A>G p.K48R Missense 1/10 -
11-534242-A-G HRAS c.81T>C p.H27= Synonymous 2/6 -
17-37880989-T-C ERBB2 c.2318T>C p.V773A Missense 20/27 -
17-7579861-T-C TP53 c.52A>G p.T18A Missense 2/11 -
7-116423413-T-C MET c.3688T>C p.Y1230H Missense 19/21 -
4-55972974-T-A KDR c.1416A>T p.Q472H Missense 11/30 -
7-55241711-C-T EGFR c.2159C>T p.S720F Missense 18/28 -
4-55594258-T-C KIT c.1961T>C p.V654A Missense 13/21 -
4-1803564-C-T FGFR3 c.742C>T p.R248C Missense 7/18 -
4-1806099-A-G FGFR3 c.1118A>G p.Y373C Missense 9/18 -
12-25362777-A-G KRAS c.519T>C p.D173= Synonymous 5/5 -
12-25362777-A-T KRAS c.519T>A p.D173E Missense 5/5 -
3-10188240-T-C VHL c.383T>C p.L128P Missense 2/3 -
4-55141055-A-C PDGFRA c.1701A>C p.P567= Synonymous 12/23 -
4-55152040-C-T PDGFRA c.2472C>T p.V824= Synonymous 18/23 -
7-55249013-A-G EGFR c.2311A>G p.N771D Missense 20/28 -
3-10183793-T-C VHL c.262T>C p.W88R Missense 1/3 -
3-10188212-T-C VHL c.355T>C p.F119L Missense 2/3 -
10-43609096-T-C RET c.1852T>C p.C618R Missense 10/20 -
4-1807894-G-A FGFR3 c.1953G>A p.T651= Synonymous 14/18 -
17-7578274-T-C TP53 c.575A>G p.Q192R Missense 6/11 -
1-115256538-G-A NRAS c.173C>T p.T58I Missense 3/7 -
10-43613843-G-T RET c.2307G>T p.L769= Synonymous 13/20 -
7-55259461-C-T EGFR c.2519C>T p.A840V Missense 21/28 -
17-7577515-T-C TP53 c.766A>G p.T256A Missense 7/11 -
3-10191474-A-G VHL c.467A>G p.Y156C Missense 3/3 -
17-7578530-A-G TP53 c.400T>C p.F134L Missense 5/11 -
10-89717627-T-C PTEN c.652T>C p.C218R Missense 7/9 -
2-209113192-G-A IDH1 c.315C>T p.G105= Synonymous 4/10 -
11-108200952-A-G ATM c.7319A>G p.K2440R Missense 50/63 -
9-133748403-A-G ABL1 c.1064A>G p.E355G Missense 6/11 -
7-55242481-A-G EGFR c.2251A>G p.T751A Missense 19/28 -
19-17945969-C-T JAK3 c.1970G>A p.R657Q Missense 15/24 -
3-10183785-T-C VHL c.254T>C p.L85P Missense 1/3 -
4-55979558-C-T KDR c.889G>A p.V297I Missense 7/30 -
3-178927410-A-G PIK3CA c.1173A>G p.I391M Missense 7/21 -
7-55242421-T-C EGFR c.2191T>C p.W731R Missense 19/28 -
10-43609075-T-C RET c.1831T>C p.C611R Missense 10/20 -
4-1806131-T-C FGFR3 c.1150T>C p.F384L Missense 9/18 -
10-123274774-A-G FGFR2 c.1144T>C p.C382R Missense 9/18 -
4-55593464-A-C KIT c.1621A>C p.M541L Missense 10/21 -
12-121432068-G-A HNF1A c.815G>A p.R272H Missense 4/10 -
10-123279558-T-C FGFR2 c.874A>G p.K292E Missense 7/18 -
17-7577130-A-G TP53 c.808T>C p.F270L Missense 8/11 -
10-123279494-T-C FGFR2 c.938A>G p.K313R Missense 7/18 -
10-123279668-C-T FGFR2 c.764G>A p.R255Q Missense 7/18 -
10-123279677-G-A FGFR2 c.755C>T p.S252L Missense 7/18 -
4-1803568-C-T FGFR3 c.746C>T p.S249F Missense 7/18 -
4-1803649-A-G FGFR3 c.827A>G p.K276R Missense 7/18 -
4-1803571-C-T FGFR3 c.749C>T p.P250L Missense 7/18 -
4-1803601-C-T FGFR3 c.779C>T p.P260L Missense 7/18 -
4-1803669-C-T FGFR3 c.847C>T p.P283S Missense 7/18 -
4-1806131-T-A FGFR3 c.1150T>A p.F384I Missense 9/18 -
4-1806176-C-T FGFR3 c.1195C>T p.R399C Missense 9/18 -
4-1806182-C-T FGFR3 c.1201C>T p.P401S Missense 9/18 -
8-38279380-T-C FGFR1 c.1016A>G p.Y339C Missense 8/18 -
7-116423518-G-A MET c.3793G>A p.D1265N Missense 19/21 -
8-38277196-T-C FGFR1 c.1139A>G p.Y380C Missense 9/18 -
8-38285931-A-C FGFR1 c.381T>G p.D127E Missense 4/18 -
8-38285896-T-C FGFR1 c.416A>G p.K139R Missense 4/18 -
4-1808877-A-G FGFR3 c.2309A>G p.Y770C Missense 18/18 -
4-1808877-A-T FGFR3 c.2309A>T p.Y770F Missense 18/18 -
4-1808964-C-T FGFR3 c.2396C>T p.P799L Missense 18/18 -
7-116339620-T-C MET c.482T>C p.I161T Missense 2/21 -
7-116339871-T-C MET c.733T>C p.Y245H Missense 2/21 -
17-7578196-A-G TP53 c.653T>C p.V218A Missense 6/11 -
7-116340261-A-G MET c.1123A>G p.N375D Missense 2/21 -
4-1806088-G-A FGFR3 c.1107G>A p.A369= Synonymous 9/18 -
4-1806088-G-T FGFR3 c.1107G>T p.A369= Synonymous 9/18 -
17-7577575-A-G TP53 c.706T>C p.Y236H Missense 7/11 -
17-7578412-A-G TP53 c.518T>C p.V173A Missense 5/11 -
7-55249049-A-G EGFR c.2347A>G p.T783A Missense 20/28 -
7-55249023-T-C EGFR c.2321T>C p.V774A Missense 20/28 -
7-55249008-T-C EGFR c.2306T>C p.V769A Missense 20/28 -
17-7577593-T-C TP53 c.688A>G p.T230A Missense 7/11 -
20-57484596-A-T GNAS c.680A>T p.Q227L Missense 9/13 -
11-533812-A-G HRAS c.244T>C p.F82L Missense 3/6 -
17-7578236-A-G TP53 c.613T>C p.Y205H Missense 6/11 -
2-212530084-C-T ERBB4 c.1835G>A p.R612Q Missense 15/28 -
4-55594204-C-T KIT c.1907C>T p.A636V Missense 13/21 -
7-128851593-A-G SMO c.1918A>G p.T640A Missense 11/12 -
17-7578496-A-G TP53 c.434T>C p.L145P Missense 5/11 -
9-133738340-A-G ABL1 c.740A>G p.K247R Missense 4/11 -
16-68846047-A-G CDH1 c.1018A>G p.T340A Missense 8/16 -
12-112888172-A-G PTPN11 c.188A>G p.Y63C Missense 3/16 -
17-7577086-T-C TP53 c.852A>G p.T284= Synonymous 8/11 -
4-55593481-A-G KIT c.1638A>G p.K546= Synonymous 10/21 -
9-21970966-C-T CDKN2A c.392G>A p.R131H Missense 2/3 -
12-25398238-A-G KRAS c.81T>C p.H27= Synonymous 2/5 -
12-25380277-G-A KRAS c.181C>T p.Q61* Nonsense 3/5 -
9-139397707-G-A NOTCH1 c.5094C>T p.D1698= Synonymous 27/34 -
19-17948006-G-A JAK3 c.1718C>T p.A573V Missense 13/24 -
3-178951990-T-C PIK3CA c.3045T>C p.S1015= Synonymous 21/21 -
1-15772212-C-T CTRC c.760C>T p.R254W Missense 7/8 -
7-117149147-G-A CFTR c.224G>A p.R75Q Missense 3/27 -
7-117251649-T-G CFTR c.3154T>G p.F1052V Missense 20/27 -
17-7579480-A-G TP53 c.207T>C p.A69= Synonymous 4/11 -
10-89690840-T-C PTEN c.247T>C p.C83R Missense 4/9 -
18-48591895-A-G SMAD4 c.1058A>G p.Y353C Missense 9/12 -
7-128846469-A-G SMO c.1264+41A>G - IntronicSNV - 6/11
13-28602226-AAG-A FLT3 c.2053+87_2053+88delCT - IntronicDeletion - 16/23
3-178916930-G-T PIK3CA c.317G>T p.G106V Missense 2/21 -
13-28602226-AAGAG-A FLT3 c.2053+85_2053+88delCTCT - IntronicDeletion - 16/23
8-38282294-C-T FGFR1 c.746-77G>A - IntronicSNV - 6/17
13-28610183-A-G FLT3 c.1310-3T>C - IntronicSNV - 10/23
19-3119405-T-G GNA11 c.889+48T>G - IntronicSNV - 6/6
2-29432776-T-C ALK c.3744-32A>G - IntronicSNV - 24/28
17-7577544-A-G TP53 c.737T>C p.M246T Missense 7/11 -
9-21971110-T-C CDKN2A c.248A>G p.H83R Missense 2/3 -
3-178916945-A-G PIK3CA c.332A>G p.K111R Missense 2/21 -
22-24145675-G-C SMARCB1 c.628+66G>C - IntronicSNV - 5/8
2-212812097-T-C ERBB4 c.421+58A>G - IntronicSNV - 3/27
19-3119406-G-T GNA11 c.889+49G>T - IntronicSNV - 6/6
17-7578404-A-G TP53 c.526T>C p.C176R Missense 5/11 -
3-178916944-A-G PIK3CA c.331A>G p.K111E Missense 2/21 -
17-7578509-A-G TP53 c.421T>C p.C141R Missense 5/11 -
10-105657316-G-C STN1 c.743C>G p.S248C Missense 7/10 -
22-40058186-A-G CACNA1I c.3118A>G p.I1040V Missense 17/37 -
7-116339672-C-T MET c.534C>T p.S178= Synonymous 2/21 -
17-56448297-C-T RNF43 c.350G>A p.R117H Missense 3/10 -
22-40054948-T-C CACNA1I c.2157T>C p.I719= Synonymous 12/37 -
17-56492800-T-C RNF43 c.139A>G p.I47V Missense 2/10 -
10-105657363-C-G STN1 c.696G>C p.V232= Synonymous 7/10 -
2-29443642-C-T ALK c.3575G>A p.R1192Q Missense 23/29 -
19-3119239-C-T GNA11 c.771C>T p.T257= Synonymous 6/7 -
2-29443615-C-T ALK c.3602G>A p.G1201E Missense 23/29 -
10-123274810-T-C FGFR2 c.1108A>G p.T370A Missense 9/18 -
4-55592192-T-C KIT c.1516T>C p.F506L Missense 9/21 -
4-55144172-A-G PDGFRA c.2001A>G p.S667= Synonymous 14/23 -
17-7578202-A-G TP53 c.647T>C p.V216A Missense 6/11 -
19-17945696-C-T JAK3 c.2164G>A p.V722I Missense 16/24 -
5-112175076-A-G APC c.3785A>G p.Y1262C Missense 16/16 -
2-209113119-T-C IDH1 c.388A>G p.I130V Missense 4/10 -
9-139399363-G-A NOTCH1 c.4780C>T p.R1594W Missense 26/34 -
17-7579715-A-G TP53 c.81T>C p.P27= Synonymous 3/11 -
17-7579399-A-G TP53 c.288T>C p.S96= Synonymous 4/11 -
4-55141055-A-T PDGFRA c.1701A>T p.P567= Synonymous 12/23 -
17-7579447-A-G TP53 c.240T>C p.P80= Synonymous 4/11 -
9-139397720-T-C NOTCH1 c.5081A>G p.Q1694R Missense 27/34 -
3-41266066-T-C CTNNB1 c.63T>C p.A21= Synonymous 3/15 -
11-108155048-A-G ATM c.3841A>G p.S1281G Missense 26/63 -
4-55593613-T-C KIT c.1679T>C p.V560A Missense 11/21 -
3-41266068-T-C CTNNB1 c.65T>C p.V22A Missense 3/15 -
3-178938856-A-G PIK3CA c.2098A>G p.K700E Missense 14/21 -
19-1220502-G-A STK11 c.595G>A p.E199K Missense 4/10 -
4-55152040-C-A PDGFRA c.2472C>A p.V824= Synonymous 18/23 -
11-108236200-A-G ATM c.9136A>G p.S3046G Missense 63/63 -
18-48604745-T-C SMAD4 c.1567T>C p.C523R Missense 12/12 -
7-116340302-T-C MET c.1164T>C p.H388= Synonymous 2/21 -
17-7578418-T-C TP53 c.512A>G p.E171G Missense 5/11 -
17-7578414-A-G TP53 c.516T>C p.V172= Synonymous 5/11 -
19-1207019-A-G STK11 c.107A>G p.Y36C Missense 1/10 -
19-1221227-G-A STK11 c.750G>A p.T250= Synonymous 6/10 -
17-7578446-T-C TP53 c.484A>G p.I162V Missense 5/11 -
16-68835635-A-G CDH1 c.226A>G p.K76E Missense 3/16 -
16-68835644-A-G CDH1 c.235A>G p.T79A Missense 3/16 -
9-21971107-T-C CDKN2A c.251A>G p.D84G Missense 2/3 -
19-1223055-G-A STK11 c.992G>A p.R331Q Missense 8/10 -
9-139399408-GCAC-G NOTCH1 c.4732_4734delGTG p.V1578del InFrameDeletion 26/34 -
7-55242476-A-G EGFR c.2246A>G p.E749G Missense 19/28 -
4-55602765-G-C KIT c.2586G>C p.L862= Synonymous 18/21 -
19-1221311-T-C STK11 c.834T>C p.C278= Synonymous 6/10 -
4-55594243-A-G KIT c.1946A>G p.N649S Missense 13/21 -
4-55599268-C-T KIT c.2394C>T p.I798= Synonymous 17/21 -
4-55976872-C-T KDR c.1040G>A p.R347H Missense 8/30 -
17-7577135-T-C TP53 c.803A>G p.N268S Missense 8/11 -
10-43615505-G-A RET c.2608-24G>A - IntronicSNV - 14/19
10-43609097-G-A RET c.1853G>A p.C618Y Missense 10/20 -
17-7572967-T-C TP53 c.1142A>G p.K381R Missense 11/11 -
4-1807922-G-A FGFR3 c.1959+22G>A - IntronicSNV - 14/17
18-48586344-C-T SMAD4 c.955+58C>T - IntronicSNV - 8/11
3-178917005-A-G PIK3CA c.352+40A>G - IntronicSNV - 2/20
9-21970931-C-T CDKN2A c.427G>A p.A143T Missense 2/3 -
17-7578243-A-G TP53 c.606T>C p.R202= Synonymous 6/11 -
17-7577567-A-G TP53 c.714T>C p.C238= Synonymous 7/11 -
7-55249074-A-G EGFR c.2372A>G p.Q791R Missense 20/28 -
7-55249158-T-C EGFR c.2456T>C p.V819A Missense 20/28 -
7-55249103-T-C EGFR c.2401T>C p.Y801H Missense 20/28 -
9-21971207-C-A CDKN2A c.151G>T p.V51F Missense 2/3 -
19-1220472-A-G STK11 c.565A>G p.T189A Missense 4/10 -
7-55221810-A-G EGFR c.854A>G p.Y285C Missense 7/28 -
17-7577098-T-C TP53 c.840A>G p.R280= Synonymous 8/11 -
17-7573993-T-C TP53 c.1034A>G p.N345S Missense 10/11 -
17-7574006-A-G TP53 c.1021T>C p.F341L Missense 10/11 -
7-55259450-C-A EGFR c.2508C>A p.R836= Synonymous 21/28 -
7-55259450-C-G EGFR c.2508C>G p.R836= Synonymous 21/28 -
17-7573957-T-C TP53 c.1070A>G p.K357R Missense 10/11 -
7-55259532-G-A EGFR c.2590G>A p.A864T Missense 21/28 -
3-178952120-T-C PIK3CA c.3175T>C p.F1059L Missense 21/21 -
18-48575160-G-A SMAD4 c.354G>A p.A118= Synonymous 3/12 -
5-112103053-A-G APC c.388A>G p.S130G Missense 4/16 -
7-55249070-A-G EGFR c.2368A>G p.T790A Missense 20/28 -
20-57484596-A-G GNAS c.680A>G p.Q227R Missense 9/13 -
9-21971166-C-G CDKN2A c.192G>C p.L64= Synonymous 2/3 -
1-115258743-A-G NRAS c.39T>C p.G13= Synonymous 2/7 -
1-115258746-A-C NRAS c.36T>G p.G12= Synonymous 2/7 -
12-121431382-A-G HNF1A c.586A>G p.T196A Missense 3/10 -
18-48604678-A-G SMAD4 c.1500A>G p.I500M Missense 12/12 -
7-55259443-T-C EGFR c.2501T>C p.V834A Missense 21/28 -
9-133738313-A-G ABL1 c.713A>G p.E238G Missense 4/11 -
11-108153602-T-C ATM c.3742T>C p.Y1248H Missense 25/63 -
11-108098353-T-C ATM c.2T>C p.M1? Missense 2/63 -
13-49033857-T-C RB1 c.1994T>C p.L665P Missense 20/27 -
17-7579455-C-T TP53 c.232G>A p.A78T Missense 4/11 -
17-7573952-G-A TP53 c.1075C>T p.P359S Missense 10/11 -
10-43609942-G-A RET c.1894G>A p.E632K Missense 11/20 -
4-1806137-T-C FGFR3 c.1156T>C p.F386L Missense 9/18 -
17-37884271-T-C ERBB2 c.3742T>C p.Y1248H Missense 27/27 -
12-121431404-G-A HNF1A c.608G>A p.R203H Missense 3/10 -
7-116423456-A-G MET c.3731A>G p.K1244R Missense 19/21 -
12-121432004-G-A HNF1A c.751G>A p.A251T Missense 4/10 -
17-7578432-T-C TP53 c.498A>G p.S166= Synonymous 5/11 -
7-55241719-T-C EGFR c.2167T>C p.F723L Missense 18/28 -
7-116340148-T-C MET c.1010T>C p.L337P Missense 2/21 -
1-115256557-A-G NRAS c.154T>C p.L52= Synonymous 3/7 -
11-533884-T-C HRAS c.172A>G p.T58A Missense 3/6 -
19-1220427-C-T STK11 c.520C>T p.H174Y Missense 4/10 -
4-55152082-C-T PDGFRA c.2514C>T p.G838= Synonymous 18/23 -
7-55241680-A-G EGFR c.2128A>G p.T710A Missense 18/28 -
3-178916869-A-G PIK3CA c.256A>G p.T86A Missense 2/21 -
7-55249025-T-C EGFR c.2323T>C p.C775R Missense 20/28 -
7-55242492-A-G EGFR c.2262A>G p.K754= Synonymous 19/28 -
3-178951943-A-G PIK3CA c.2998A>G p.N1000D Missense 21/21 -
7-55259476-T-C EGFR c.2534T>C p.V845A Missense 21/28 -
5-112175676-A-G APC c.4385A>G p.K1462R Missense 16/16 -
4-1808987-T-G FGFR3 c.2419T>G p.*807Gext*101 Missense 18/18 -
4-1808987-T-A FGFR3 c.2419T>A p.*807Rext*101 Missense 18/18 -
4-1808987-T-C FGFR3 c.2419T>C p.*807Rext*101 Missense 18/18 -
12-112888168-T-C PTPN11 c.184T>C p.Y62H Missense 3/16 -
12-112888173-T-C PTPN11 c.189T>C p.Y63= Synonymous 3/16 -
12-112888169-A-G PTPN11 c.185A>G p.Y62C Missense 3/16 -
10-89725160-C-T PTEN c.1143C>T p.D381= Synonymous 9/9 -
17-7574015-A-G TP53 c.1012T>C p.F338L Missense 10/11 -
3-178938877-G-A PIK3CA c.2119G>A p.E707K Missense 14/21 -
4-55593607-A-G KIT c.1673A>G p.K558R Missense 11/21 -
7-140453170-T-C BRAF c.1765A>G p.T589A Missense 15/18 -
7-117250625-A-G CFTR c.3041A>G p.Y1014C Missense 19/27 -
19-1207103-A-G STK11 c.191A>G p.K64R Missense 1/10 -
9-133748298-A-G ABL1 c.959A>G p.Y320C Missense 6/11 -
9-133738320-G-A ABL1 c.720G>A p.T240= Synonymous 4/11 -
5-112175346-T-C APC c.4055T>C p.V1352A Missense 16/16 -
1-43814997-T-C MPL c.1532T>C p.L511P Missense 10/12 -
17-7578220-T-C TP53 c.629A>G p.N210S Missense 6/11 -
17-7574013-G-A TP53 c.1014C>T p.F338= Synonymous 10/11 -
16-68847251-C-T CDH1 c.1173C>T p.V391= Synonymous 9/16 -
17-7578511-G-A TP53 c.419C>T p.T140I Missense 5/11 -
3-37067243-G-A MLH1 c.1154G>A p.R385H Missense 12/19 -
13-48942679-A-G RB1 c.1066A>G p.T356A Missense 11/27 -
17-56448325-T-C RNF43 c.322A>G p.K108E Missense 3/10 -
17-7577596-A-G TP53 c.685T>C p.C229R Missense 7/11 -
16-68846054-C-T CDH1 c.1025C>T p.T342I Missense 8/16 -
16-68847274-C-T CDH1 c.1196C>T p.T399I Missense 9/16 -
13-49033910-C-T RB1 c.2047C>T p.L683F Missense 20/27 -
10-43613866-A-G RET c.2330A>G p.N777S Missense 13/20 -
7-128846077-C-T SMO c.1007C>T p.T336I Missense 5/12 -
17-7573976-T-C TP53 c.1051A>G p.K351E Missense 10/11 -
3-41266127-A-G CTNNB1 c.124A>G p.T42A Missense 3/15 -
17-56436109-C-T RNF43 c.1028G>A p.R343H Missense 9/10 -
3-10191471-T-C VHL c.464T>C p.V155A Missense 3/3 -
10-89624232-A-G PTEN c.6A>G p.T2= Synonymous 1/9 -
3-41266121-A-G CTNNB1 c.118A>G p.T40A Missense 3/15 -
9-139399389-A-G NOTCH1 c.4754T>C p.L1585P Missense 26/34 -
13-28608323-A-G FLT3 c.1733T>C p.M578T Missense 14/24 -
3-41280802-A-G CTNNB1 c.2315A>G p.N772S Missense 15/15 -
18-48584791-A-G SMAD4 c.869A>G p.H290R Missense 7/12 -
10-89717775-A-G PTEN c.800A>G p.K267R Missense 7/9 -
9-139402588-A-G NOTCH1 c.3329T>C p.V1110A Missense 21/34 -
18-48581259-A-G SMAD4 c.563A>G p.N188S Missense 5/12 -
4-1803589-A-G FGFR3 c.767A>G p.Q256R Missense 7/18 -
18-48603102-A-G SMAD4 c.1403A>G p.N468S Missense 11/12 -
1-115258733-T-C NRAS c.49A>G p.S17G Missense 2/7 -
3-41278103-T-C CTNNB1 c.1979T>C p.F660S Missense 13/15 -
7-55241663-T-C EGFR c.2111T>C p.L704S Missense 18/28 -
12-121431394-C-T HNF1A c.598C>T p.R200W Missense 3/10 -
12-121432067-C-T HNF1A c.814C>T p.R272C Missense 4/10 -
17-7579879-G-A TP53 c.34C>T p.P12S Missense 2/11 -
15-90631918-C-A IDH2 c.435G>T p.G145= Synonymous 4/11 -
17-7578216-A-G TP53 c.633T>C p.T211= Synonymous 6/11 -
7-55242504-A-G EGFR c.2274A>G p.E758= Synonymous 19/28 -
1-115252236-T-C NRAS c.404A>G p.K135R Missense 4/7 -
2-29443648-A-G ALK c.3569T>C p.L1190P Missense 23/29 -
3-10188215-A-G VHL c.358A>G p.R120G Missense 2/3 -
10-89717696-T-C PTEN c.721T>C p.F241L Missense 7/9 -
7-55249091-T-C EGFR c.2389T>C p.C797R Missense 20/28 -
4-55597514-A-G KIT c.2162A>G p.Y721C Missense 15/21 -
7-55241693-A-G EGFR c.2141A>G p.K714R Missense 18/28 -
18-48593403-A-G SMAD4 c.1154A>G p.K385R Missense 10/12 -
4-55962501-T-C KDR c.2623A>G p.T875A Missense 19/30 -
17-56435167-C-T RNF43 c.1970G>A p.R657Q Missense 9/10 -
18-48593394-A-G SMAD4 c.1145A>G p.H382R Missense 10/12 -
7-128850340-T-C SMO c.1603T>C p.W535R Missense 9/12 -
17-56437548-T-C RNF43 c.914A>G p.Q305R Missense 8/10 -
18-48573516-A-G SMAD4 c.100A>G p.T34A Missense 2/12 -
13-48955484-A-G RB1 c.1600A>G p.S534G Missense 17/27 -
17-7572956-A-G TP53 c.1153T>C p.F385L Missense 11/11 -
7-55233108-T-C EGFR c.1858T>C p.C620R Missense 15/28 -
9-21970902-T-C CDKN2A c.456A>G p.S152= Synonymous 2/3 -
9-21970937-T-C CDKN2A c.421A>G p.N141D Missense 2/3 -
12-121432050-A-G HNF1A c.797A>G p.N266S Missense 4/10 -
22-24176342-T-C SMARCB1 c.1133T>C p.L378P Missense 9/9 -
22-24176350-A-G SMARCB1 c.1141A>G p.T381A Missense 9/9 -
9-21970927-C-T CDKN2A c.431G>A p.R144H Missense 2/3 -
17-37881306-T-C ERBB2 c.2498T>C p.M833T Missense 21/27 -
11-108155055-T-C ATM c.3848T>C p.L1283P Missense 26/63 -
7-128846392-C-T SMO c.1228C>T p.L410= Synonymous 6/12 -
17-7579857-A-G TP53 c.56T>C p.F19S Missense 2/11 -
5-112174451-C-T APC c.3160C>T p.H1054Y Missense 16/16 -
7-55249038-G-A EGFR c.2336G>A p.G779D Missense 20/28 -
7-55249059-T-C EGFR c.2357T>C p.V786A Missense 20/28 -
7-55242472-A-G EGFR c.2242A>G p.R748G Missense 19/28 -
11-533838-C-T HRAS c.218G>A p.R73H Missense 3/6 -
7-55221804-G-A EGFR c.848G>A p.G283D Missense 7/28 -
5-112175415-A-G APC c.4124A>G p.H1375R Missense 16/16 -
19-1223057-T-C STK11 c.994T>C p.W332R Missense 8/10 -
9-133748276-A-G ABL1 c.937A>G p.I313V Missense 6/11 -
11-534290-G-A HRAS c.33C>T p.A11= Synonymous 2/6 -
17-7577590-T-C TP53 c.691A>G p.T231A Missense 7/11 -
17-7577113-A-G TP53 c.825T>C p.C275= Synonymous 8/11 -
17-7577599-C-T TP53 c.682G>A p.D228N Missense 7/11 -
3-10188208-G-A VHL c.351G>A p.W117* Nonsense 2/3 -
3-41266070-A-G CTNNB1 c.67A>G p.S23G Missense 3/15 -
3-10191512-C-T VHL c.505C>T p.L169= Synonymous 3/3 -
3-41266123-T-C CTNNB1 c.120T>C p.T40= Synonymous 3/15 -
17-7579333-T-G TP53 c.354A>C p.T118= Synonymous 4/11 -
10-105657363-C-T STN1 c.696G>A p.V232= Synonymous 7/10 -
19-17947977-G-A JAK3 c.1747C>T p.H583Y Missense 13/24 -
16-68846131-A-G CDH1 c.1102A>G p.T368A Missense 8/16 -
13-49033872-T-C RB1 c.2009T>C p.L670P Missense 20/27 -
17-7579333-T-C TP53 c.354A>G p.T118= Synonymous 4/11 -
17-7579333-T-A TP53 c.354A>T p.T118= Synonymous 4/11 -
12-25362780-T-C KRAS c.516A>G p.K172= Synonymous 5/5 -
7-140481441-T-C BRAF c.1367A>G p.Q456R Missense 11/18 -
10-105658695-T-C STN1 c.521A>G p.Y174C Missense 6/10 -
10-105658720-T-C STN1 c.496A>G p.R166G Missense 6/10 -
16-68771320-T-C CDH1 c.2T>C p.M1? Missense 1/16 -
1-43815035-C-T MPL c.1565+5C>T - IntronicSNV - 10/11
7-151891603-T-C KMT2C c.4429A>G p.N1477D Missense 29/59 -
5-112103039-A-G APC c.374A>G p.N125S Missense 4/16 -
19-3114961-C-T GNA11 c.496C>T p.R166C Missense 4/7 -
13-28602256-C-T FLT3 c.2053+59G>A - IntronicSNV - 16/23
5-112175487-G-A APC c.4196G>A p.R1399H Missense 16/16 -
18-48575155-T-C SMAD4 c.349T>C p.Y117H Missense 3/12 -
9-21971004-A-G CDKN2A c.354T>C p.A118= Synonymous 2/3 -
3-41274905-C-T CTNNB1 c.1155C>T p.L385= Synonymous 8/15 -
17-37880224-G-A ERBB2 c.2268G>A p.R756= Synonymous 19/27 -
17-7577145-G-A TP53 c.793C>T p.L265= Synonymous 8/11 -
9-21971132-C-T CDKN2A c.226G>A p.A76T Missense 2/3 -
9-21971121-G-T CDKN2A c.237C>A p.T79= Synonymous 2/3 -
9-21971121-G-C CDKN2A c.237C>G p.T79= Synonymous 2/3 -
9-21971121-G-A CDKN2A c.237C>T p.T79= Synonymous 2/3 -
7-151845972-G-A KMT2C c.13040C>T p.P4347L Missense 52/59 -
9-80409421-C-T GNAQ c.693G>A p.A231= Synonymous 5/7 -
9-80336280-T-C GNAQ c.1039A>G p.T347A Missense 7/7 -
7-152055685-C-T KMT2C c.237G>A p.T79= Synonymous 2/59 -
7-152055685-C-A KMT2C c.237G>T p.T79= Synonymous 2/59 -
7-152055685-C-G KMT2C c.237G>C p.T79= Synonymous 2/59 -
18-48593464-C-T SMAD4 c.1215C>T p.H405= Synonymous 10/12 -
17-7579424-G-A TP53 c.263C>T p.A88V Missense 4/11 -
3-178921521-A-G PIK3CA c.1003A>G p.R335G Missense 5/21 -
3-178916814-T-C PIK3CA c.201T>C p.S67= Synonymous 2/21 -
3-178917659-A-G PIK3CA c.534A>G p.P178= Synonymous 3/21 -
3-10183774-G-A VHL c.243G>A p.P81= Synonymous 1/3 -
3-10188229-A-G VHL c.372A>G p.T124= Synonymous 2/3 -
17-7579363-A-G TP53 c.324T>C p.G108= Synonymous 4/11 -
11-534332-G-A HRAS c.1-10C>T - 5-UTRSNV 2/6 -
9-139417524-T-C NOTCH1 c.520A>G p.T174A Missense 4/34 -
17-7579469-A-G TP53 c.218T>C p.V73A Missense 4/11 -
19-3121110-G-A GNA11 c.1013G>A p.R338H Missense 7/7 -
17-7573914-T-C TP53 c.1100+13A>G - IntronicSNV - 10/10
17-7573919-T-C TP53 c.1100+8A>G - IntronicSNV - 10/10
12-112888138-A-G PTPN11 c.154A>G p.T52A Missense 3/16 -
9-80412475-A-G GNAQ c.566T>C p.I189T Missense 4/7 -
3-178938884-T-C PIK3CA c.2126T>C p.M709T Missense 14/21 -
10-89711903-A-G PTEN c.521A>G p.Y174C Missense 6/9 -
3-178938883-A-G PIK3CA c.2125A>G p.M709V Missense 14/21 -
19-1223102-G-A STK11 c.1039G>A p.A347T Missense 8/10 -
2-179640779-C-T TTN c.5812G>A p.V1938I Missense 28/363 -
11-533799-T-G HRAS c.257A>C p.N86T Missense 3/6 -
9-139399383-T-C NOTCH1 c.4760A>G p.N1587S Missense 26/34 -
7-128850358-A-G SMO c.1621A>G p.T541A Missense 9/12 -
17-7579853-T-C TP53 c.60A>G p.S20= Synonymous 2/11 -
13-28608328-T-C FLT3 c.1728A>G p.L576= Synonymous 14/24 -
17-7578491-C-T TP53 c.439G>A p.V147I Missense 5/11 -
17-7578516-G-A TP53 c.414C>T p.A138= Synonymous 5/11 -
17-7578528-A-G TP53 c.402T>C p.F134= Synonymous 5/11 -
17-7579458-G-A TP53 c.229C>T p.P77S Missense 4/11 -
17-7579895-T-C TP53 c.18A>G p.S6= Synonymous 2/11 -
18-48584717-T-C SMAD4 c.795T>C p.T265= Synonymous 7/12 -
19-1207006-A-G STK11 c.94A>G p.T32A Missense 1/10 -
17-7573939-C-T TP53 c.1088G>A p.R363K Missense 10/11 -
17-7573950-T-C TP53 c.1077A>G p.P359= Synonymous 10/11 -
17-7577051-T-C TP53 c.887A>G p.H296R Missense 8/11 -
18-48603051-C-T SMAD4 c.1352C>T p.A451V Missense 11/12 -
17-7578180-A-G TP53 c.669T>C p.P223= Synonymous 6/11 -
4-1808390-C-T FGFR3 c.2148C>T p.P716= Synonymous 16/18 -
9-21971039-G-A CDKN2A c.319C>T p.R107C Missense 2/3 -
4-55136802-A-G PDGFRA c.1124A>G p.Y375C Missense 8/23 -
22-40038880-A-G CACNA1I c.1135A>G p.I379V Missense 7/37 -
7-55249047-T-C EGFR c.2345T>C p.L782P Missense 20/28 -
19-1221267-T-C STK11 c.790T>C p.F264L Missense 6/10 -
3-41274874-A-G CTNNB1 c.1124A>G p.Q375R Missense 8/15 -
17-7577600-A-G TP53 c.681T>C p.S227= Synonymous 7/11 -
13-28602292-T-C FLT3 c.2053+23A>G - IntronicSNV - 16/23
3-10188204-T-C VHL c.347T>C p.L116P Missense 2/3 -
9-139397709-C-T NOTCH1 c.5092G>A p.D1698N Missense 27/34 -
7-128851529-G-A SMO c.1854G>A p.W618* Nonsense 11/12 -
17-37881357-A-G ERBB2 c.2549A>G p.N850S Missense 21/27 -
9-139390734-G-A NOTCH1 c.7457C>T p.S2486L Missense 34/34 -
17-7577503-A-G TP53 c.778T>C p.S260P Missense 7/11 -
7-116340174-T-C MET c.1036T>C p.F346L Missense 2/21 -
3-10188201-A-G VHL c.344A>G p.H115R Missense 2/3 -
13-28608336-T-C FLT3 c.1720A>G p.S574G Missense 14/24 -
4-1806118-C-T FGFR3 c.1137C>T p.Y379= Synonymous 9/18 -
12-25378616-T-C KRAS c.382A>G p.K128E Missense 4/5 -
11-108181041-A-G ATM c.5917A>G p.R1973G Missense 39/63 -
2-179486376-C-T TTN c.45175G>A p.A15059T Missense 245/363 -
22-40054948-T-A CACNA1I c.2157T>A p.I719= Synonymous 12/37 -
17-7579429-T-C TP53 c.258A>G p.A86= Synonymous 4/11 -
19-3119227-C-T GNA11 c.759C>T p.A253= Synonymous 6/7 -
12-112888159-A-G PTPN11 c.175A>G p.T59A Missense 3/16 -
18-48591859-T-C SMAD4 c.1022T>C p.V341A Missense 9/12 -
17-7578539-T-C TP53 c.391A>G p.N131D Missense 5/11 -
7-55225365-T-C EGFR c.1217T>C p.L406P Missense 11/28 -
5-112154739-T-C APC c.1010T>C p.M337T Missense 10/16 -
17-37881382-T-C ERBB2 c.2574T>C p.H858= Synonymous 21/27 -
2-212576844-T-C ERBB4 c.1055A>G p.N352S Missense 9/28 -
11-108117852-C-T ATM c.1063C>T p.Q355* Nonsense 8/63 -
3-41274910-A-G CTNNB1 c.1160A>G p.N387S Missense 8/15 -
3-178936149-T-C PIK3CA c.1664+27T>C - IntronicSNV - 10/20
11-108119831-T-C ATM c.1235+2T>C - IntronicSNV - 9/62
18-48573426-A-G SMAD4 c.10A>G p.M4V Missense 2/12 -
7-128845246-T-C SMO c.740T>C p.F247S Missense 3/12 -
4-55953713-C-T KDR c.3662+61G>A - IntronicSNV - 27/29
7-128850405-A-G SMO c.1652+16A>G - IntronicSNV - 9/11
7-148508670-A-G EZH2 c.1947+47T>C - IntronicSNV - 16/19
10-89624331-T-C PTEN c.79+26T>C - IntronicSNV - 1/8
13-28602260-T-C FLT3 c.2053+55A>G - IntronicSNV - 16/23
17-7577495-T-C TP53 c.782+4A>G - IntronicSNV - 7/10
4-55597458-A-G KIT c.2142-36A>G - IntronicSNV - 14/20
22-24176297-C-G SMARCB1 c.1119-31C>G - IntronicSNV - 8/8
22-24176297-C-T SMARCB1 c.1119-31C>T - IntronicSNV - 8/8
4-55602795-A-G KIT c.2596+20A>G - IntronicSNV - 18/20
10-89624334-A-G PTEN c.79+29A>G - IntronicSNV - 1/8
11-108119834-A-G ATM c.1235+5A>G - IntronicSNV - 9/62
19-17947913-G-A JAK3 c.1786+25C>T - IntronicSNV - 13/23
2-212652733-A-G ERBB4 c.556+17T>C - IntronicSNV - 4/27
4-55953681-C-T KDR c.3662+93G>A - IntronicSNV - 27/29
5-112103093-T-C APC c.422+6T>C - IntronicSNV - 4/15
9-80412415-T-C GNAQ c.605+21A>G - IntronicSNV - 4/6
20-57484532-A-G GNAS c.660-44A>G - IntronicSNV - 8/12
18-48584641-T-C SMAD4 c.787+27T>C - IntronicSNV - 6/11
10-43617466-T-C RET c.2801+2T>C - IntronicSNV - 16/19
10-105657300-A-G STN1 c.753+6T>C - IntronicSNV - 7/9
19-17947918-G-A JAK3 c.1786+20C>T - IntronicSNV - 13/23
7-55241738-T-C EGFR c.2184+2T>C - IntronicSNV - 18/27
7-148508681-A-G EZH2 c.1947+36T>C - IntronicSNV - 16/19
11-108225640-A-G ATM c.8850+39A>G - IntronicSNV - 61/62
17-56439887-A-G RNF43 c.687+18T>C - IntronicSNV - 6/9
19-17947927-G-A JAK3 c.1786+11C>T - IntronicSNV - 13/23
1-43815063-G-A MPL c.1565+33G>A - IntronicSNV - 10/11
16-68835528-T-C CDH1 c.164-45T>C - IntronicSNV - 2/15
17-56440593-A-G RNF43 c.582+43T>C - IntronicSNV - 5/9
17-56440610-A-G RNF43 c.582+26T>C - IntronicSNV - 5/9
10-89624328-C-G PTEN c.79+23C>G - IntronicSNV - 1/8
11-108119838-T-C ATM c.1235+9T>C - IntronicSNV - 9/62
17-7577458-G-A TP53 c.782+41C>T - IntronicSNV - 7/10
17-37880311-G-A ERBB2 c.2307+48G>A - IntronicSNV - 19/26
19-3115073-A-G GNA11 c.605+3A>G - IntronicSNV - 4/6
17-56440885-A-G RNF43 c.450+2T>C - IntronicSNV - 4/9
19-3119065-T-C GNA11 c.735+14T>C - IntronicSNV - 5/6
18-48586347-A-G SMAD4 c.955+61A>G - IntronicSNV - 8/11
7-128846493-T-C SMO c.1264+65T>C - IntronicSNV - 6/11
10-43609125-T-C RET c.1879+2T>C - IntronicSNV - 10/19
11-108225606-A-G ATM c.8850+5A>G - IntronicSNV - 61/62
17-7573925-A-G TP53 c.1100+2T>C - IntronicSNV - 10/10
3-10183874-A-G VHL c.340+3A>G - IntronicSNV - 1/2
3-10183884-C-T VHL c.340+13C>T - IntronicSNV - 1/2
4-55144212-A-G PDGFRA c.2002+39A>G - IntronicSNV - 14/22
4-55144239-A-G PDGFRA c.2002+66A>G - IntronicSNV - 14/22
7-128850396-A-G SMO c.1652+7A>G - IntronicSNV - 9/11
7-148508628-A-G EZH2 c.1947+89T>C - IntronicSNV - 16/19
4-1808266-C-T FGFR3 c.2031-7C>T - IntronicSNV - 15/17
7-140453216-A-G BRAF c.1742-23T>C - IntronicSNV - 14/17
11-108119851-A-G ATM c.1235+22A>G - IntronicSNV - 9/62
5-112103104-T-C APC c.422+17T>C - IntronicSNV - 4/15
19-17947922-G-A JAK3 c.1786+16C>T - IntronicSNV - 13/23
3-10183887-T-C VHL c.340+16T>C - IntronicSNV - 1/2
4-55593752-A-G KIT c.1774+44A>G - IntronicSNV - 11/20
7-55233140-A-G EGFR c.1880+10A>G - IntronicSNV - 15/27
19-17952188-A-G JAK3 c.1142+10T>C - IntronicSNV - 8/23
10-105658633-A-G STN1 c.581+2T>C - IntronicSNV - 6/9
17-56439858-A-G RNF43 c.687+47T>C - IntronicSNV - 6/9
3-178936142-T-C PIK3CA c.1664+20T>C - IntronicSNV - 10/20
7-128850429-A-G SMO c.1652+40A>G - IntronicSNV - 9/11
13-28602211-A-G FLT3 c.2053+104T>C - IntronicSNV - 16/23
18-48575727-G-A SMAD4 c.454+33G>A - IntronicSNV - 4/11
19-17947917-G-A JAK3 c.1786+21C>T - IntronicSNV - 13/23
13-48923186-T-C RB1 c.607+27T>C - IntronicSNV - 6/26
3-10183881-C-T VHL c.340+10C>T - IntronicSNV - 1/2
4-55953677-A-G KDR c.3662+97T>C - IntronicSNV - 27/29
4-55953758-A-G KDR c.3662+16T>C - IntronicSNV - 27/29
7-55221848-G-A EGFR c.889+3G>A - IntronicSNV - 7/27
2-212652710-T-C ERBB4 c.556+40A>G - IntronicSNV - 4/27
11-108117876-A-G ATM c.1065+22A>G - IntronicSNV - 8/62
17-7577472-T-C TP53 c.782+27A>G - IntronicSNV - 7/10
13-28610184-T-A FLT3 c.1310-4A>T - IntronicSNV - 10/23
13-28610184-T-C FLT3 c.1310-4A>G - IntronicSNV - 10/23
7-148508707-A-G EZH2 c.1947+10T>C - IntronicSNV - 16/19
10-43609180-A-G RET c.1879+57A>G - IntronicSNV - 10/19
19-1220506-T-C STK11 c.597+2T>C - IntronicSNV - 4/9
19-3115085-A-G GNA11 c.605+15A>G - IntronicSNV - 4/6
19-3118916-T-C GNA11 c.606-6T>C - IntronicSNV - 4/6
3-178927497-T-C PIK3CA c.1251+9T>C - IntronicSNV - 7/20
18-48584658-A-G SMAD4 c.787+44A>G - IntronicSNV - 6/11
19-3115075-C-T GNA11 c.605+5C>T - IntronicSNV - 4/6
19-3119403-A-G GNA11 c.889+46A>G - IntronicSNV - 6/6
18-48586343-A-G SMAD4 c.955+57A>G - IntronicSNV - 8/11
22-24145696-A-G SMARCB1 c.628+87A>G - IntronicSNV - 5/8
4-55144184-T-C PDGFRA c.2002+11T>C - IntronicSNV - 14/22
19-3119076-A-G GNA11 c.735+25A>G - IntronicSNV - 5/6
3-178936159-T-C PIK3CA c.1664+37T>C - IntronicSNV - 10/20
13-48953834-A-G RB1 c.1389+48A>G - IntronicSNV - 14/26
10-43609143-GACC-G RET c.1879+30_1879+32delACC - IntronicDeletion - 10/19
4-55593728-T-C KIT c.1774+20T>C - IntronicSNV - 11/20
7-55233132-T-C EGFR c.1880+2T>C - IntronicSNV - 15/27
7-128846504-A-G SMO c.1264+76A>G - IntronicSNV - 6/11
11-108204762-A-G ATM c.8010+67A>G - IntronicSNV - 54/62
13-48923187-A-G RB1 c.607+28A>G - IntronicSNV - 6/26
1-43815066-C-T MPL c.1565+36C>T - IntronicSNV - 10/11
3-178936153-T-C PIK3CA c.1664+31T>C - IntronicSNV - 10/20
4-55593525-T-C KIT c.1647+35T>C - IntronicSNV - 10/20
7-55221879-A-G EGFR c.889+34A>G - IntronicSNV - 7/27
9-80412431-A-G GNAQ c.605+5T>C - IntronicSNV - 4/6
10-43609133-T-C RET c.1879+10T>C - IntronicSNV - 10/19
10-89624307-T-C PTEN c.79+2T>C - IntronicSNV - 1/8
19-3120931-G-A GNA11 c.890-56G>A - IntronicSNV - 6/6
20-36031843-G-A SRC c.*61G>A - 3-UTRSNV 14/14 -
20-36031843-G-T SRC c.*61G>T - 3-UTRSNV 14/14 -
18-48575707-T-C SMAD4 c.454+13T>C - IntronicSNV - 4/11
18-48586355-A-G SMAD4 c.955+69A>G - IntronicSNV - 8/11
4-55953738-A-G KDR c.3662+36T>C - IntronicSNV - 27/29
10-123279471-T-C FGFR2 c.939+22A>G - IntronicSNV - 7/17
11-534331-A-G HRAS c.1-9T>C - 5-UTRSNV 2/6 -
19-3118896-T-C GNA11 c.606-26T>C - IntronicSNV - 4/6
17-37880306-C-T ERBB2 c.2307+43C>T - IntronicSNV - 19/26
17-56439889-A-G RNF43 c.687+16T>C - IntronicSNV - 6/9
17-56440834-T-C RNF43 c.450+53A>G - IntronicSNV - 4/9
18-48575748-T-G SMAD4 c.454+54T>G - IntronicSNV - 4/11
19-17954182-A-G JAK3 c.420+7T>C - IntronicSNV - 4/23
22-24145667-A-G SMARCB1 c.628+58A>G - IntronicSNV - 5/8
13-48953843-A-G RB1 c.1389+57A>G - IntronicSNV - 14/26
19-17947934-T-C JAK3 c.1786+4A>G - IntronicSNV - 13/23
7-55221855-C-T EGFR c.889+10C>T - IntronicSNV - 7/27
4-1807935-A-G FGFR3 c.1959+35A>G - IntronicSNV - 14/17
5-112103101-A-G APC c.422+14A>G - IntronicSNV - 4/15
7-55241740-A-G EGFR c.2184+4A>G - IntronicSNV - 18/27
17-7573926-C-T TP53 c.1100+1G>A - IntronicSNV - 10/10
19-1220507-A-G STK11 c.597+3A>G - IntronicSNV - 4/9
3-178927520-A-G PIK3CA c.1251+32A>G - IntronicSNV - 7/20
7-148508667-T-C EZH2 c.1947+50A>G - IntronicSNV - 16/19
10-43609150-A-G RET c.1879+27A>G - IntronicSNV - 10/19
19-3121179-C-A GNA11 c.*2C>A - 3-UTRSNV 7/7 -
19-3121179-C-T GNA11 c.*2C>T - 3-UTRSNV 7/7 -
17-56439876-A-G RNF43 c.687+29T>C - IntronicSNV - 6/9
1-43815054-A-G MPL c.1565+24A>G - IntronicSNV - 10/11
20-36031791-G-A SRC c.*9G>A - 3-UTRSNV 14/14 -
4-55144214-A-G PDGFRA c.2002+41A>G - IntronicSNV - 14/22
13-48953823-C-T RB1 c.1389+37C>T - IntronicSNV - 14/26
19-3119401-T-C GNA11 c.889+44T>C - IntronicSNV - 6/6
4-55144185-G-A PDGFRA c.2002+12G>A - IntronicSNV - 14/22
4-55593754-A-G KIT c.1774+46A>G - IntronicSNV - 11/20
13-28592602-A-G FLT3 c.2541+2T>C - IntronicSNV - 20/23
1-115258648-A-G NRAS c.111+23T>C - IntronicSNV - 2/6
9-5073792-A-G JAK2 c.1864+7A>G - IntronicSNV - 14/24
11-108172546-A-G ATM c.5319+30A>G - IntronicSNV - 35/62
13-48953851-A-G RB1 c.1389+65A>G - IntronicSNV - 14/26
17-7577470-A-G TP53 c.782+29T>C - IntronicSNV - 7/10
17-56440605-A-G RNF43 c.582+31T>C - IntronicSNV - 5/9
4-55593720-A-G KIT c.1774+12A>G - IntronicSNV - 11/20
7-128846502-C-T SMO c.1264+74C>T - IntronicSNV - 6/11
17-56440573-G-A RNF43 c.582+63C>T - IntronicSNV - 5/9
17-37880272-C-T ERBB2 c.2307+9C>T - IntronicSNV - 19/26
11-108119888-A-G ATM c.1235+59A>G - IntronicSNV - 9/62
19-17947926-G-A JAK3 c.1786+12C>T - IntronicSNV - 13/23
4-55144223-T-C PDGFRA c.2002+50T>C - IntronicSNV - 14/22
4-55593516-A-G KIT c.1647+26A>G - IntronicSNV - 10/20
4-55953685-A-G KDR c.3662+89T>C - IntronicSNV - 27/29
17-56440600-A-G RNF43 c.582+36T>C - IntronicSNV - 5/9
7-148508657-T-C EZH2 c.1947+60A>G - IntronicSNV - 16/19
19-17947924-T-G JAK3 c.1786+14A>C - IntronicSNV - 13/23
11-108119909-T-C ATM c.1235+80T>C - IntronicSNV - 9/62
5-112103090-A-G APC c.422+3A>G - IntronicSNV - 4/15
7-55221859-T-C EGFR c.889+14T>C - IntronicSNV - 7/27
17-56492684-T-C RNF43 c.252+3A>G - IntronicSNV - 2/9
7-55241783-A-G EGFR c.2184+47A>G - IntronicSNV - 18/27
7-128846437-A-G SMO c.1264+9A>G - IntronicSNV - 6/11
17-7573921-A-G TP53 c.1100+6T>C - IntronicSNV - 10/10
7-128846461-A-G SMO c.1264+33A>G - IntronicSNV - 6/11
11-108204745-A-G ATM c.8010+50A>G - IntronicSNV - 54/62
17-37880267-A-G ERBB2 c.2307+4A>G - IntronicSNV - 19/26
17-56437499-C-T RNF43 c.952+11G>A - IntronicSNV - 8/9
7-148508674-A-G EZH2 c.1947+43T>C - IntronicSNV - 16/19
22-24145659-A-G SMARCB1 c.628+50A>G - IntronicSNV - 5/8
4-55593750-A-G KIT c.1774+42A>G - IntronicSNV - 11/20
4-55953683-T-C KDR c.3662+91A>G - IntronicSNV - 27/29
10-123279464-G-A FGFR2 c.939+29C>T - IntronicSNV - 7/17
4-55593738-A-G KIT c.1774+30A>G - IntronicSNV - 11/20
11-108119863-T-C ATM c.1235+34T>C - IntronicSNV - 9/62
17-56440581-A-G RNF43 c.582+55T>C - IntronicSNV - 5/9
2-212589793-A-G ERBB4 c.741+8T>C - IntronicSNV - 6/27
4-55597451-A-G KIT c.2142-43A>G - IntronicSNV - 14/20
9-133750241-T-C ABL1 c.1086-14T>C - IntronicSNV - 6/10
19-17947919-G-A JAK3 c.1786+19C>T - IntronicSNV - 13/23
1-115258660-C-T NRAS c.111+11G>A - IntronicSNV - 2/6
1-115258663-G-A NRAS c.111+8C>T - IntronicSNV - 2/6
13-48953818-C-T RB1 c.1389+32C>T - IntronicSNV - 14/26
13-48953866-G-A RB1 c.1389+80G>A - IntronicSNV - 14/26
17-7577456-G-A TP53 c.782+43C>T - IntronicSNV - 7/10
17-37880307-C-T ERBB2 c.2307+44C>T - IntronicSNV - 19/26
17-56437509-C-T RNF43 c.952+1G>A - IntronicSNV - 8/9
19-3119375-A-G GNA11 c.889+18A>G - IntronicSNV - 6/6
22-24145619-A-G SMARCB1 c.628+10A>G - IntronicSNV - 5/8
22-24145622-C-T SMARCB1 c.628+13C>T - IntronicSNV - 5/8
10-105657254-T-C STN1 c.753+52A>G - IntronicSNV - 7/9
10-105657268-A-G STN1 c.753+38T>C - IntronicSNV - 7/9
10-123279484-A-G FGFR2 c.939+9T>C - IntronicSNV - 7/17
7-55221883-A-G EGFR c.889+38A>G - IntronicSNV - 7/27
11-108204752-A-G ATM c.8010+57A>G - IntronicSNV - 54/62
13-48923221-T-C RB1 c.607+62T>C - IntronicSNV - 6/26
13-49039255-A-G RB1 c.2325+8A>G - IntronicSNV - 22/26
19-3119387-T-C GNA11 c.889+30T>C - IntronicSNV - 6/6
7-148508702-T-C EZH2 c.1947+15A>G - IntronicSNV - 16/19
10-89624345-A-G PTEN c.79+40A>G - IntronicSNV - 1/8
1-43815065-A-G MPL c.1565+35A>G - IntronicSNV - 10/11
11-108119840-A-G ATM c.1235+11A>G - IntronicSNV - 9/62
13-48953798-A-G RB1 c.1389+12A>G - IntronicSNV - 14/26
22-24134083-T-C SMARCB1 c.232+2T>C - IntronicSNV - 2/8
7-55221898-T-C EGFR c.889+53T>C - IntronicSNV - 7/27
11-108119845-T-C ATM c.1235+16T>C - IntronicSNV - 9/62
18-48575718-T-C SMAD4 c.454+24T>C - IntronicSNV - 4/11
4-55602799-A-G KIT c.2596+24A>G - IntronicSNV - 18/20
10-43609178-A-G RET c.1879+55A>G - IntronicSNV - 10/19
17-7577474-T-C TP53 c.782+25A>G - IntronicSNV - 7/10
17-37880289-A-G ERBB2 c.2307+26A>G - IntronicSNV - 19/26
10-89624341-T-C PTEN c.79+36T>C - IntronicSNV - 1/8
18-48584646-A-G SMAD4 c.787+32A>G - IntronicSNV - 6/11
10-43615480-C-T RET c.2608-49C>T - IntronicSNV - 14/19
17-56439845-T-C RNF43 c.687+60A>G - IntronicSNV - 6/9
7-128850421-C-T SMO c.1652+32C>T - IntronicSNV - 9/11
10-105657273-A-G STN1 c.753+33T>C - IntronicSNV - 7/9
17-37880314-T-C ERBB2 c.2307+51T>C - IntronicSNV - 19/26
22-24145655-T-C SMARCB1 c.628+46T>C - IntronicSNV - 5/8
4-55980289-T-C KDR c.798+4A>G - IntronicSNV - 6/29
17-56440588-A-G RNF43 c.582+48T>C - IntronicSNV - 5/9
7-128850423-C-T SMO c.1652+34C>T - IntronicSNV - 9/11
7-128850397-T-C SMO c.1652+8T>C - IntronicSNV - 9/11
19-17952161-T-C JAK3 c.1142+37A>G - IntronicSNV - 8/23
22-24145676-T-C SMARCB1 c.628+67T>C - IntronicSNV - 5/8
7-128846434-T-C SMO c.1264+6T>C - IntronicSNV - 6/11
18-48586345-G-A SMAD4 c.955+59G>A - IntronicSNV - 8/11
19-3119369-T-C GNA11 c.889+12T>C - IntronicSNV - 6/6
22-24145657-T-C SMARCB1 c.628+48T>C - IntronicSNV - 5/8
3-10183900-A-G VHL c.340+29A>G - IntronicSNV - 1/2
17-56439901-T-C RNF43 c.687+4A>G - IntronicSNV - 6/9
19-3119389-G-A GNA11 c.889+32G>A - IntronicSNV - 6/6
3-178936150-T-C PIK3CA c.1664+28T>C - IntronicSNV - 10/20
7-55241751-A-G EGFR c.2184+15A>G - IntronicSNV - 18/27
7-140481502-A-G BRAF c.1315-9T>C - IntronicSNV - 10/17
18-48584649-T-C SMAD4 c.787+35T>C - IntronicSNV - 6/11
18-48586351-A-G SMAD4 c.955+65A>G - IntronicSNV - 8/11
10-123274836-A-G FGFR2 c.1085-3T>C - IntronicSNV - 8/17
17-7578164-T-C TP53 c.672+13A>G - IntronicSNV - 6/10
17-7577481-T-C TP53 c.782+18A>G - IntronicSNV - 7/10
17-56439870-A-G RNF43 c.687+35T>C - IntronicSNV - 6/9
22-24145720-A-G SMARCB1 c.628+111A>G - IntronicSNV - 5/8
19-17947914-G-A JAK3 c.1786+24C>T - IntronicSNV - 13/23
11-108117871-A-G ATM c.1065+17A>G - IntronicSNV - 8/62
3-178927523-T-C PIK3CA c.1251+35T>C - IntronicSNV - 7/20
5-112175316-T-C APC c.4025T>C p.L1342S Missense 16/16 -
17-7577460-A-G TP53 c.782+39T>C - IntronicSNV - 7/10
4-55593704-T-C KIT c.1770T>C p.S590= Synonymous 11/21 -
7-128843251-G-C SMO c.358G>C p.A120P Missense 2/12 -
3-178916853-A-G PIK3CA c.240A>G p.E80= Synonymous 2/21 -
12-112926849-T-C PTPN11 c.1469T>C p.V490A Missense 13/16 -
7-151970863-T-C KMT2C c.939A>G p.G313= Synonymous 7/59 -
3-41266150-A-G CTNNB1 c.147A>G p.K49= Synonymous 3/15 -
3-178938890-A-G PIK3CA c.2132A>G p.K711R Missense 14/21 -
4-1803654-T-C FGFR3 c.832T>C p.Y278H Missense 7/18 -
3-178922335-T-C PIK3CA c.1104T>C p.C368= Synonymous 6/21 -
3-178927409-T-C PIK3CA c.1172T>C p.I391T Missense 7/21 -
19-17945980-C-T JAK3 c.1959G>A p.V653= Synonymous 15/24 -
5-112103082-A-G APC c.417A>G p.K139= Synonymous 4/16 -
7-55242435-T-C EGFR c.2205T>C p.G735= Synonymous 19/28 -
7-55249043-T-C EGFR c.2341T>C p.C781R Missense 20/28 -
3-178947066-A-G PIK3CA c.2502A>G p.L834= Synonymous 18/21 -
5-112175063-A-G APC c.3772A>G p.T1258A Missense 16/16 -
7-128845159-A-G SMO c.653A>G p.Q218R Missense 3/12 -
7-128846076-A-G SMO c.1006A>G p.T336A Missense 5/12 -
7-128846089-A-G SMO c.1019A>G p.H340R Missense 5/12 -
7-140481425-T-C BRAF c.1383A>G p.Q461= Synonymous 11/18 -
7-151878872-A-T KMT2C c.6073T>A p.S2025T Missense 36/59 -
7-151891568-T-C KMT2C c.4464A>G p.L1488= Synonymous 29/59 -
9-21971113-A-G CDKN2A c.245T>C p.V82A Missense 2/3 -
9-80336298-A-G GNAQ c.1021T>C p.F341L Missense 7/7 -
8-38283645-A-G FGFR1 c.740T>C p.V247A Missense 6/18 -
7-128845480-G-A SMO c.777G>A p.S259= Synonymous 4/12 -
8-38282148-T-C FGFR1 c.815A>G p.N272S Missense 7/18 -
19-3121136-A-G GNA11 c.1039A>G p.T347A Missense 7/7 -
7-151962192-T-C KMT2C c.1115A>G p.D372G Missense 8/59 -
10-43615549-A-G RET c.2628A>G p.A876= Synonymous 15/20 -
10-43615566-T-C RET c.2645T>C p.V882A Missense 15/20 -
10-105658688-T-C STN1 c.528A>G p.K176= Synonymous 6/10 -
11-533805-A-G HRAS c.251T>C p.I84T Missense 3/6 -
11-533816-A-G HRAS c.240T>C p.C80= Synonymous 3/6 -
11-533844-T-C HRAS c.212A>G p.Y71C Missense 3/6 -
13-49033876-T-C RB1 c.2013T>C p.S671= Synonymous 20/27 -
15-90631824-C-T IDH2 c.529G>A p.D177N Missense 4/11 -
19-3119205-A-G GNA11 c.737A>G p.N246S Missense 6/7 -
19-17947955-A-G JAK3 c.1769T>C p.V590A Missense 13/24 -
1-115256567-A-G NRAS c.144T>C p.G48= Synonymous 3/7 -
2-179640817-A-G TTN c.5774T>C p.V1925A Missense 28/363 -
2-179640867-A-G TTN c.5724T>C p.G1908= Synonymous 28/363 -
3-178927448-T-C PIK3CA c.1211T>C p.L404P Missense 7/21 -
3-178947847-A-G PIK3CA c.2722A>G p.T908A Missense 19/21 -
4-1803659-T-C FGFR3 c.837T>C p.S279= Synonymous 7/18 -
4-1803685-T-C FGFR3 c.863T>C p.L288P Missense 7/18 -
11-534294-CCCA-C HRAS c.26_28delTGG p.V9del InFrameDeletion 2/6 -
2-29449842-T-C ALK c.3013A>G p.I1005V Missense 18/29 -
20-36026138-T-C SRC c.740T>C p.V247A Missense 9/14 -
3-178921333-A-G PIK3CA c.815A>G p.Y272C Missense 5/21 -
4-55561718-A-G KIT c.108A>G p.P36= Synonymous 2/21 -
7-151904412-T-C KMT2C c.3814A>G p.K1272E Missense 24/59 -
7-128846054-T-C SMO c.984T>C p.G328= Synonymous 5/12 -
7-128846112-A-G SMO c.1042A>G p.T348A Missense 5/12 -
7-128850388-A-G SMO c.1651A>G p.R551G Missense 9/12 -
7-116339913-A-G MET c.775A>G p.I259V Missense 2/21 -
9-139397772-A-G NOTCH1 c.5029T>C p.Y1677H Missense 27/34 -
9-139399416-A-G NOTCH1 c.4727T>C p.V1576A Missense 26/34 -
11-533814-A-G HRAS c.242T>C p.V81A Missense 3/6 -
13-28608314-A-G FLT3 c.1742T>C p.V581A Missense 14/24 -
17-7573933-T-C TP53 c.1094A>G p.H365R Missense 10/11 -
17-7577152-A-G TP53 c.786T>C p.G262= Synonymous 8/11 -
18-48604757-A-G SMAD4 c.1579A>G p.I527V Missense 12/12 -
19-1220460-A-G STK11 c.553A>G p.T185A Missense 4/10 -
19-1223100-G-A STK11 c.1037G>A p.G346D Missense 8/10 -
19-17947988-A-G JAK3 c.1736T>C p.V579A Missense 13/24 -
2-209113195-A-G IDH1 c.312T>C p.G104= Synonymous 4/10 -
2-212576867-T-C ERBB4 c.1032A>G p.S344= Synonymous 9/28 -
2-212587224-A-G ERBB4 c.777T>C p.V259= Synonymous 7/28 -
3-178938918-A-G PIK3CA c.2160A>G p.K720= Synonymous 14/21 -
3-178952016-A-G PIK3CA c.3071A>G p.K1024R Missense 21/21 -
22-40038868-T-C CACNA1I c.1123T>C p.F375L Missense 7/37 -
3-178922369-A-G PIK3CA c.1138A>G p.N380D Missense 6/21 -
4-55152010-T-C PDGFRA c.2442T>C p.C814= Synonymous 18/23 -
4-55152098-A-G PDGFRA c.2530A>G p.M844V Missense 18/23 -
4-55961064-A-G KDR c.2876T>C p.L959P Missense 21/30 -
4-55979640-A-G KDR c.807T>C p.H269= Synonymous 7/30 -
7-116339632-A-G MET c.494A>G p.Q165R Missense 2/21 -
7-128846416-T-C SMO c.1252T>C p.F418L Missense 6/12 -
7-151891580-A-G KMT2C c.4452T>C p.S1484= Synonymous 29/59 -
5-112136984-T-C APC c.738T>C p.S246= Synonymous 8/16 -
9-133748286-A-G ABL1 c.947A>G p.E316G Missense 6/11 -
9-133748400-T-C ABL1 c.1061T>C p.L354P Missense 6/11 -
12-112919908-T-C PTPN11 c.1123T>C p.Y375H Missense 10/16 -
7-55221731-A-G EGFR c.775A>G p.T259A Missense 7/28 -
9-139397688-C-T NOTCH1 c.5113G>A p.A1705T Missense 27/34 -
9-133747583-A-G ABL1 c.890A>G p.N297S Missense 5/11 -
13-48955516-A-G RB1 c.1632A>G p.R544= Synonymous 17/27 -
11-108119705-A-G ATM c.1111A>G p.T371A Missense 9/63 -
4-55561830-A-G KIT c.220A>G p.T74A Missense 2/21 -
9-139412709-T-C NOTCH1 c.1135A>G p.N379D Missense 7/34 -
11-108206580-T-C ATM c.8160T>C p.D2720= Synonymous 56/63 -
11-108236052-T-C ATM c.8988T>C p.S2996= Synonymous 63/63 -
12-112888203-T-C PTPN11 c.219T>C p.T73= Synonymous 3/16 -
13-48955534-A-G RB1 c.1650A>G p.L550= Synonymous 17/27 -
13-49033920-A-G RB1 c.2057A>G p.H686R Missense 20/27 -
13-49033922-A-G RB1 c.2059A>G p.T687A Missense 20/27 -
15-90631911-A-G IDH2 c.442T>C p.F148L Missense 4/11 -
16-68846098-A-G CDH1 c.1069A>G p.T357A Missense 8/16 -
17-56448284-T-C RNF43 c.363A>G p.S121= Synonymous 3/10 -
18-48584747-A-G SMAD4 c.825A>G p.P275= Synonymous 7/12 -
18-48591870-T-C SMAD4 c.1033T>C p.C345R Missense 9/12 -
19-3119224-A-G GNA11 c.756A>G p.K252= Synonymous 6/7 -
19-3119231-T-C GNA11 c.763T>C p.F255L Missense 6/7 -
19-3121041-A-G GNA11 c.944A>G p.D315G Missense 7/7 -
22-24133989-A-G SMARCB1 c.140A>G p.Y47C Missense 2/9 -
22-40058127-T-C CACNA1I c.3059T>C p.V1020A Missense 17/37 -
22-40058211-A-G CACNA1I c.3143A>G p.H1048R Missense 17/37 -
2-29443690-T-C ALK c.3527A>G p.H1176R Missense 23/29 -
2-212587225-A-G ERBB4 c.776T>C p.V259A Missense 7/28 -
4-1803661-A-G FGFR3 c.839A>G p.D280G Missense 7/18 -
2-212576795-A-G ERBB4 c.1104T>C p.F368= Synonymous 9/28 -
22-40042586-T-C CACNA1I c.1162T>C p.F388L Missense 8/37 -
2-212495299-C-T ERBB4 c.1967G>A p.G656E Missense 17/28 -
4-55144537-T-C PDGFRA c.2011T>C p.Y671H Missense 15/23 -
4-55955055-A-G KDR c.3490T>C p.L1164= Synonymous 26/30 -
7-55241682-T-C EGFR c.2130T>C p.T710= Synonymous 18/28 -
7-128846038-A-G SMO c.968A>G p.Y323C Missense 5/12 -
20-36022643-A-G SRC c.516A>G p.R172= Synonymous 7/14 -
4-55133537-A-G PDGFRA c.841A>G p.T281A Missense 6/23 -
5-112174452-A-G APC c.3161A>G p.H1054R Missense 16/16 -
4-55599357-A-G KIT c.2483A>G p.N828S Missense 17/21 -
2-212576788-T-C ERBB4 c.1111A>G p.T371A Missense 9/28 -
11-533863-T-C HRAS c.193A>G p.S65G Missense 3/6 -
11-534246-T-C HRAS c.77A>G p.N26S Missense 2/6 -
11-108117850-A-G ATM c.1061A>G p.H354R Missense 8/63 -
11-108137914-A-G ATM c.2483A>G p.K828R Missense 17/63 -
11-108173696-T-C ATM c.5436T>C p.A1812= Synonymous 36/63 -
11-108180986-T-C ATM c.5862T>C p.A1954= Synonymous 39/63 -
2-29432715-G-A ALK c.3773C>T p.T1258I Missense 25/29 -
4-55597527-A-G KIT c.2175A>G p.K725= Synonymous 15/21 -
9-80409384-T-C GNAQ c.730A>G p.N244D Missense 5/7 -
13-28623627-T-C FLT3 c.930A>G p.I310M Missense 8/24 -
10-89692795-T-C PTEN c.279T>C p.H93= Synonymous 5/9 -
11-108236067-T-C ATM c.9003T>C p.S3001= Synonymous 63/63 -
2-29443663-A-G ALK c.3554T>C p.V1185A Missense 23/29 -
2-179415881-A-G TTN c.91377T>C p.I30459= Synonymous 336/363 -
2-179474179-A-G TTN c.51858T>C p.N17286= Synonymous 273/363 -
2-179474228-C-A TTN c.51809G>T p.S17270I Missense 273/363 -
3-10191516-T-C VHL c.509T>C p.V170A Missense 3/3 -
3-178938913-C-G PIK3CA c.2155C>G p.L719V Missense 14/21 -
4-1803595-G-A FGFR3 c.773G>A p.G258E Missense 7/18 -
2-29462597-A-G ALK c.2304T>C p.D768= Synonymous 13/29 -
4-55961060-T-C KDR c.2880A>G p.K960= Synonymous 21/30 -
5-112173976-A-G APC c.2685A>G p.S895= Synonymous 16/16 -
5-112174556-T-C APC c.3265T>C p.F1089L Missense 16/16 -
5-112175474-A-G APC c.4183A>G p.S1395G Missense 16/16 -
7-55249170-A-G EGFR c.2468A>G p.K823R Missense 20/28 -
7-128846059-T-C SMO c.989T>C p.V330A Missense 5/12 -
7-128851542-A-G SMO c.1867A>G p.T623A Missense 11/12 -
9-80343568-T-C GNAQ c.751A>G p.S251G Missense 6/7 -
7-140500203-T-C BRAF c.939A>G p.T313= Synonymous 7/18 -
4-55597495-A-G KIT c.2143A>G p.S715G Missense 15/21 -
13-48955505-A-G RB1 c.1621A>G p.N541D Missense 17/27 -
17-7579402-A-G TP53 c.285T>C p.S95= Synonymous 4/11 -
18-48604721-A-G SMAD4 c.1543A>G p.R515G Missense 12/12 -
5-112175329-A-G APC c.4038A>G p.S1346= Synonymous 16/16 -
7-128846081-T-C SMO c.1011T>C p.Y337= Synonymous 5/12 -
7-128846094-T-C SMO c.1024T>C p.S342P Missense 5/12 -
7-151845799-A-G KMT2C c.13213T>C p.C4405R Missense 52/59 -
7-151878364-A-G KMT2C c.6581T>C p.V2194A Missense 36/59 -
7-151878890-T-C KMT2C c.6055A>G p.R2019G Missense 36/59 -
7-151891547-T-C KMT2C c.4485A>G p.E1495= Synonymous 29/59 -
9-80412500-T-C GNAQ c.541A>G p.R181G Missense 4/7 -
9-80343525-T-C GNAQ c.794A>G p.Q265R Missense 6/7 -
9-139390764-A-G NOTCH1 c.7427T>C p.V2476A Missense 34/34 -
9-139390860-T-C NOTCH1 c.7331A>G p.Q2444R Missense 34/34 -
9-139397700-C-T NOTCH1 c.5101G>A p.A1701T Missense 27/34 -
10-105658712-A-G STN1 c.504T>C p.L168= Synonymous 6/10 -
10-123279571-G-A FGFR2 c.861C>T p.H287= Synonymous 7/18 -
9-80409481-T-C GNAQ c.633A>G p.S211= Synonymous 5/7 -
17-7573980-T-C TP53 c.1047A>G p.E349= Synonymous 10/11 -
18-48593425-A-G SMAD4 c.1176A>G p.K392= Synonymous 10/12 -
19-17954197-A-G JAK3 c.412T>C p.F138L Missense 4/24 -
2-179594920-T-C TTN c.18207A>G p.L6069= Synonymous 62/363 -
2-179595889-T-C TTN c.17503A>G p.T5835A Missense 60/363 -
2-212589810-T-C ERBB4 c.732A>G p.T244= Synonymous 6/28 -
3-178927415-T-C PIK3CA c.1178T>C p.I393T Missense 7/21 -
3-178927461-T-C PIK3CA c.1224T>C p.S408= Synonymous 7/21 -
3-178938906-T-C PIK3CA c.2148T>C p.T716= Synonymous 14/21 -
3-178942587-G-A PIK3CA c.2394G>A p.E798= Synonymous 16/21 -
11-108123604-A-G ATM c.1863A>G p.K621= Synonymous 12/63 -
7-151845628-A-G KMT2C c.13384T>C p.C4462R Missense 52/59 -
19-17953192-T-C JAK3 c.794A>G p.H265R Missense 6/24 -
4-1808956-G-A FGFR3 c.2388G>A p.P796= Synonymous 18/18 -
4-1808956-G-C FGFR3 c.2388G>C p.P796= Synonymous 18/18 -
10-43609997-T-C RET c.1949T>C p.V650A Missense 11/20 -
2-179486454-A-G TTN c.45097T>C p.F15033L Missense 245/363 -
4-1803627-A-G FGFR3 c.805A>G p.S269G Missense 7/18 -
7-128851516-T-C SMO c.1841T>C p.V614A Missense 11/12 -
7-151891555-T-C KMT2C c.4477A>G p.S1493G Missense 29/59 -
10-43613865-A-G RET c.2329A>G p.N777D Missense 13/20 -
10-89692899-A-G PTEN c.383A>G p.K128R Missense 5/9 -
7-151878926-A-G KMT2C c.6019T>C p.F2007L Missense 36/59 -
11-108123587-A-G ATM c.1846A>G p.T616A Missense 12/63 -
11-108137990-A-G ATM c.2559A>G p.S853= Synonymous 17/63 -
12-112926886-A-G PTPN11 c.1506A>G p.S502= Synonymous 13/16 -
13-28610106-A-G FLT3 c.1384T>C p.W462R Missense 11/24 -
15-90631848-T-C IDH2 c.505A>G p.T169A Missense 4/11 -
16-68847217-A-G CDH1 c.1139A>G p.Y380C Missense 9/16 -
18-48575112-T-C SMAD4 c.306T>C p.P102= Synonymous 3/12 -
18-48575185-T-C SMAD4 c.379T>C p.C127R Missense 3/12 -
18-48584712-A-G SMAD4 c.790A>G p.S264G Missense 7/12 -
18-48593478-A-G SMAD4 c.1229A>G p.Q410R Missense 10/12 -
22-24134011-A-G SMARCB1 c.162A>G p.L54= Synonymous 2/9 -
2-212652754-T-C ERBB4 c.552A>G p.S184= Synonymous 4/28 -
2-212652790-A-G ERBB4 c.516T>C p.P172= Synonymous 4/28 -
3-178927442-T-C PIK3CA c.1205T>C p.L402P Missense 7/21 -
4-1803614-G-A FGFR3 c.792G>A p.T264= Synonymous 7/18 -
3-41274891-T-C CTNNB1 c.1141T>C p.C381R Missense 8/15 -
22-40055532-T-C CACNA1I c.2425T>C p.W809R Missense 13/37 -
4-55597501-A-G KIT c.2149A>G p.S717G Missense 15/21 -
5-112174625-A-G APC c.3334A>G p.T1112A Missense 16/16 -
22-40060805-T-C CACNA1I c.3728T>C p.L1243P Missense 21/37 -
7-55221713-A-G EGFR c.757A>G p.K253E Missense 7/28 -
4-55573268-A-G KIT c.930A>G p.K310= Synonymous 6/21 -
9-139399407-A-G NOTCH1 c.4736T>C p.L1579P Missense 26/34 -
9-139399426-T-C NOTCH1 c.4717A>G p.T1573A Missense 26/34 -
10-105657331-A-G STN1 c.728T>C p.V243A Missense 7/10 -
4-55968611-G-T KDR c.2052C>A p.I684= Synonymous 14/30 -
12-112926868-G-A PTPN11 c.1488G>A p.M496I Missense 13/16 -
17-37880258-T-C ERBB2 c.2302T>C p.L768= Synonymous 19/27 -
17-37880260-A-G ERBB2 c.2304A>G p.L768= Synonymous 19/27 -
17-56437513-T-C RNF43 c.949A>G p.T317A Missense 8/10 -
18-48591842-A-G SMAD4 c.1005A>G p.V335= Synonymous 9/12 -
18-48603097-A-G SMAD4 c.1398A>G p.A466= Synonymous 11/12 -
19-3119249-T-C GNA11 c.781T>C p.Y261H Missense 6/7 -
19-17945702-T-C JAK3 c.2158A>G p.S720G Missense 16/24 -
3-37090070-G-A MLH1 c.1959G>A p.L653= Synonymous 17/19 -
18-48584594-A-G SMAD4 c.767A>G p.Q256R Missense 6/12 -
1-43815027-A-G MPL c.1562A>G p.Y521C Missense 10/12 -
1-115252210-T-C NRAS c.430A>G p.T144A Missense 4/7 -
2-179640773-T-C TTN c.5818A>G p.R1940G Missense 28/363 -
2-212587205-A-G ERBB4 c.796T>C p.F266L Missense 7/28 -
2-212587223-T-C ERBB4 c.778A>G p.T260A Missense 7/28 -
3-37067326-A-G MLH1 c.1237A>G p.T413A Missense 12/19 -
4-55593700-T-C KIT c.1766T>C p.L589P Missense 11/21 -
4-55597506-T-C KIT c.2154T>C p.T718= Synonymous 15/21 -
5-112175298-G-A APC c.4007G>A p.R1336K Missense 16/16 -
7-55233099-T-C EGFR c.1849T>C p.C617R Missense 15/28 -
7-55259537-A-G EGFR c.2595A>G p.E865= Synonymous 21/28 -
7-116403247-A-G MET c.2508A>G p.V836= Synonymous 11/21 -
2-212285323-A-G ERBB4 c.2978T>C p.M993T Missense 25/28 -
7-128845142-C-T SMO c.636C>T p.G212= Synonymous 3/12 -
3-178919191-AGG-CAT PIK3CA c.676_678delAGGinsCAT p.R226H Missense 4/21 -
4-55968611-G-A KDR c.2052C>T p.I684= Synonymous 14/30 -
17-56435039-T-C RNF43 c.2098A>G p.I700V Missense 9/10 -
10-105658702-T-C STN1 c.514A>G p.T172A Missense 6/10 -
11-108173647-T-C ATM c.5387T>C p.I1796T Missense 36/63 -
16-68847261-A-G CDH1 c.1183A>G p.T395A Missense 9/16 -
17-37881336-A-G ERBB2 c.2528A>G p.H843R Missense 21/27 -
18-48604739-A-G SMAD4 c.1561A>G p.T521A Missense 12/12 -
19-3121104-A-G GNA11 c.1007A>G p.N336S Missense 7/7 -
19-3121128-T-C GNA11 c.1031T>C p.V344A Missense 7/7 -
19-3121164-A-G GNA11 c.1067A>G p.Y356C Missense 7/7 -
3-10183840-T-C VHL c.309T>C p.P103= Synonymous 1/3 -
3-178938937-A-G PIK3CA c.2179A>G p.T727A Missense 14/21 -
17-56435178-C-T RNF43 c.1959G>A p.Q653= Synonymous 9/10 -
4-55946322-A-G KDR c.3857T>C p.V1286A Missense 30/30 -
7-55233102-C-T EGFR c.1852C>T p.H618Y Missense 15/28 -
7-55259496-A-G EGFR c.2554A>G p.K852E Missense 21/28 -
7-140481490-T-C BRAF c.1318A>G p.T440A Missense 11/18 -
7-151845718-A-G KMT2C c.13294T>C p.C4432R Missense 52/59 -
7-55214394-A-G EGFR c.520A>G p.S174G Missense 4/28 -
9-133738405-G-A ABL1 c.805G>A p.A269T Missense 4/11 -
5-112151272-A-G APC c.915A>G p.T305= Synonymous 9/16 -
7-151962203-T-C KMT2C c.1104A>G p.G368= Synonymous 8/59 -
9-139397716-A-G NOTCH1 c.5085T>C p.S1695= Synonymous 27/34 -
10-43609971-T-C RET c.1923T>C p.A641= Synonymous 11/20 -
10-43610011-T-C RET c.1963T>C p.F655L Missense 11/20 -
10-43615553-A-G RET c.2632A>G p.R878G Missense 15/20 -
11-534295-C-T HRAS c.28G>A p.G10S Missense 2/6 -
12-112888178-T-C PTPN11 c.194T>C p.L65P Missense 3/16 -
4-55987271-T-C KDR c.154A>G p.T52A Missense 2/30 -
4-55981180-A-G KDR c.519T>C p.D173= Synonymous 5/30 -
3-10188254-A-G VHL c.397A>G p.T133A Missense 2/3 -
16-68842360-A-G CDH1 c.421A>G p.T141A Missense 4/16 -
20-36022647-A-G SRC c.520A>G p.T174A Missense 7/14 -
9-133747551-A-G ABL1 c.858A>G p.E286= Synonymous 5/11 -
13-48955480-C-A RB1 c.1596C>A p.I532= Synonymous 17/27 -
9-80412456-G-A GNAQ c.585C>T p.D195= Synonymous 4/7 -
9-80336407-T-C GNAQ c.912A>G p.A304= Synonymous 7/7 -
10-123279515-A-G FGFR2 c.917T>C p.L306P Missense 7/18 -
11-533811-A-G HRAS c.245T>C p.F82S Missense 3/6 -
12-25378635-A-G KRAS c.363T>C p.P121= Synonymous 4/5 -
12-112888134-T-C PTPN11 c.150T>C p.A50= Synonymous 3/16 -
12-121432000-A-G HNF1A c.747A>G p.S249= Synonymous 4/10 -
13-28592682-G-A FLT3 c.2463C>T p.H821= Synonymous 20/24 -
13-48942670-A-G RB1 c.1057A>G p.T353A Missense 11/27 -
13-48955480-C-T RB1 c.1596C>T p.I532= Synonymous 17/27 -
7-151878265-G-A KMT2C c.6680C>T p.P2227L Missense 36/59 -
7-151878884-T-C KMT2C c.6061A>G p.R2021G Missense 36/59 -
7-151878896-A-G KMT2C c.6049T>C p.F2017L Missense 36/59 -
11-532681-A-G HRAS c.525T>C p.D175= Synonymous 5/6 -
9-80336277-T-C GNAQ c.1042A>G p.I348V Missense 7/7 -
22-40054218-T-C CACNA1I c.2054T>C p.L685P Missense 11/37 -
1-115256554-A-G NRAS c.157T>C p.L53= Synonymous 3/7 -
1-115258726-A-G NRAS c.56T>C p.L19P Missense 2/7 -
2-179415799-T-C TTN c.91459A>G p.S30487G Missense 336/363 -
2-212576862-T-C ERBB4 c.1037A>G p.Q346R Missense 9/28 -
3-37067309-A-G MLH1 c.1220A>G p.Q407R Missense 12/19 -
3-37067336-A-G MLH1 c.1247A>G p.K416R Missense 12/19 -
3-178916928-A-G PIK3CA c.315A>G p.V105= Synonymous 2/21 -
4-1803574-A-G FGFR3 c.752A>G p.H251R Missense 7/18 -
3-178922348-A-G PIK3CA c.1117A>G p.T373A Missense 6/21 -
2-179659729-T-C TTN c.1165A>G p.S389G Missense 7/363 -
7-116339594-T-C MET c.456T>C p.A152= Synonymous 2/21 -
2-179644177-A-G TTN c.3742T>C p.S1248P Missense 23/363 -
7-128845096-T-C SMO c.590T>C p.L197S Missense 3/12 -
17-37868670-A-G ERBB2 c.1117A>G p.S373G Missense 9/27 -
11-108119759-A-G ATM c.1165A>G p.I389V Missense 9/63 -
16-68846114-T-C CDH1 c.1085T>C p.V362A Missense 8/16 -
16-68847238-A-G CDH1 c.1160A>G p.N387S Missense 9/16 -
17-37881065-A-G ERBB2 c.2394A>G p.T798= Synonymous 20/27 -
17-37881352-T-C ERBB2 c.2544T>C p.A848= Synonymous 21/27 -
19-1221234-T-C STK11 c.757T>C p.Y253H Missense 6/10 -
19-3115016-T-C GNA11 c.551T>C p.V184A Missense 4/7 -
19-3119013-A-G GNA11 c.697A>G p.S233G Missense 5/7 -
19-17954213-T-C JAK3 c.396A>G p.P132= Synonymous 4/24 -
19-17954262-T-C JAK3 c.347A>G p.H116R Missense 4/24 -
4-55961024-T-C KDR c.2916A>G p.S972= Synonymous 21/30 -
17-37880229-A-G ERBB2 c.2273A>G p.N758S Missense 19/27 -
18-48575178-T-C SMAD4 c.372T>C p.D124= Synonymous 3/12 -
4-55979622-T-C KDR c.825A>G p.R275= Synonymous 7/30 -
4-55979632-A-G KDR c.815T>C p.L272P Missense 7/30 -
9-139405679-A-G NOTCH1 c.2512T>C p.C838R Missense 16/34 -
7-116423485-A-G MET c.3760A>G p.S1254G Missense 19/21 -
7-116423517-A-G MET c.3792A>G p.S1264= Synonymous 19/21 -
3-10191502-T-C VHL c.495T>C p.V165= Synonymous 3/3 -
9-80336273-A-G GNAQ c.1046T>C p.L349P Missense 7/7 -
9-139399354-T-C NOTCH1 c.4789A>G p.S1597G Missense 26/34 -
10-43613875-A-G RET c.2339A>G p.K780R Missense 13/20 -
18-48593400-G-A SMAD4 c.1151G>A p.G384D Missense 10/12 -
19-3119258-T-C GNA11 c.790T>C p.F264L Missense 6/7 -
19-17947986-A-G JAK3 c.1738T>C p.S580P Missense 13/24 -
2-212530113-A-G ERBB4 c.1806T>C p.S602= Synonymous 15/28 -
4-1803600-C-T FGFR3 c.778C>T p.P260S Missense 7/18 -
19-1226495-G-A STK11 c.1151G>A p.R384Q Missense 9/10 -
2-212426786-G-A ERBB4 c.2329C>T p.H777Y Missense 20/28 -
2-179594975-T-C TTN c.18152A>G p.E6051G Missense 62/363 -
2-29474000-G-T ALK c.2175C>A p.I725= Synonymous 12/29 -
9-80336309-A-G GNAQ c.1010T>C p.I337T Missense 7/7 -
9-139397698-T-C NOTCH1 c.5103A>G p.A1701= Synonymous 27/34 -
22-40045519-A-G CACNA1I c.1581A>G p.Q527= Synonymous 10/37 -
11-533807-G-A HRAS c.249C>T p.A83= Synonymous 3/6 -
12-25378595-T-C KRAS c.403A>G p.R135G Missense 4/5 -
15-90631915-A-G IDH2 c.438T>C p.T146= Synonymous 4/11 -
17-56492909-A-G RNF43 c.30T>C p.A10= Synonymous 2/10 -
19-1207100-T-C STK11 c.188T>C p.V63A Missense 1/10 -
19-1207130-G-A STK11 c.218G>A p.C73Y Missense 1/10 -
19-3121044-T-C GNA11 c.947T>C p.L316P Missense 7/7 -
19-3121097-A-G GNA11 c.1000A>G p.T334A Missense 7/7 -
19-3121175-T-C GNA11 c.1078T>C p.*360Rext*48 Missense 7/7 -
19-17954279-A-G JAK3 c.330T>C p.F110= Synonymous 4/24 -
2-179415819-T-C TTN c.91439A>G p.Q30480R Missense 336/363 -
2-179594902-T-C TTN c.18225A>G p.K6075= Synonymous 62/363 -
2-212587233-T-C ERBB4 c.768A>G p.G256= Synonymous 7/28 -
4-1803598-T-C FGFR3 c.776T>C p.L259P Missense 7/18 -
4-55595564-A-G KIT c.2054A>G p.K685R Missense 14/21 -
4-55955130-T-C KDR c.3415A>G p.M1139V Missense 26/30 -
4-55960970-T-C KDR c.2970A>G p.E990= Synonymous 21/30 -
5-112174621-A-G APC c.3330A>G p.S1110= Synonymous 16/16 -
5-112175236-A-G APC c.3945A>G p.S1315= Synonymous 16/16 -
7-55249021-C-T EGFR c.2319C>T p.H773= Synonymous 20/28 -
7-55259540-G-A EGFR c.2598G>A p.E866= Synonymous 21/28 -
7-55259543-A-G EGFR c.2601A>G p.K867= Synonymous 21/28 -
7-116339570-T-C MET c.432T>C p.H144= Synonymous 2/21 -
7-128846044-T-C SMO c.974T>C p.L325P Missense 5/12 -
7-151845795-T-C KMT2C c.13217A>G p.H4406R Missense 52/59 -
9-80336323-T-C GNAQ c.996A>G p.T332= Synonymous 7/7 -
9-139390840-G-A NOTCH1 c.7351C>T p.L2451= Synonymous 34/34 -
9-139397746-A-G NOTCH1 c.5055T>C p.C1685= Synonymous 27/34 -
10-123279614-T-C FGFR2 c.818A>G p.D273G Missense 7/18 -
12-25378644-A-G KRAS c.354T>C p.C118= Synonymous 4/5 -
13-28592676-T-C FLT3 c.2469A>G p.K823= Synonymous 20/24 -
16-68847226-A-G CDH1 c.1148A>G p.Q383R Missense 9/16 -
17-56437538-A-G RNF43 c.924T>C p.T308= Synonymous 8/10 -
17-56437543-G-A RNF43 c.919C>T p.R307W Missense 8/10 -
18-48584803-T-C SMAD4 c.881T>C p.M294T Missense 7/12 -
19-3119032-T-C GNA11 c.716T>C p.L239P Missense 5/7 -
19-3119342-T-C GNA11 c.874T>C p.F292L Missense 6/7 -
19-3121055-A-G GNA11 c.958A>G p.S320G Missense 7/7 -
22-24176362-T-C SMARCB1 c.1153T>C p.W385R Missense 9/9 -
4-1806150-T-C FGFR3 c.1169T>C p.V390A Missense 9/18 -
4-1806165-T-C FGFR3 c.1184T>C p.L395P Missense 9/18 -
2-212495300-C-T ERBB4 c.1966G>A p.G656R Missense 17/28 -
4-55144635-A-G PDGFRA c.2109A>G p.K703= Synonymous 15/23 -
4-55960998-T-C KDR c.2942A>G p.K981R Missense 21/30 -
5-112175410-T-C APC c.4119T>C p.P1373= Synonymous 16/16 -
7-128846022-T-C SMO c.952T>C p.F318L Missense 5/12 -
7-148508756-A-G EZH2 c.1908T>C p.P636= Synonymous 16/20 -
9-80409388-T-C GNAQ c.726A>G p.S242= Synonymous 5/7 -
9-139390788-A-G NOTCH1 c.7403T>C p.L2468P Missense 34/34 -
9-139397761-A-G NOTCH1 c.5040T>C p.I1680= Synonymous 27/34 -
10-89720737-T-C PTEN c.888T>C p.C296= Synonymous 8/9 -
10-123258115-A-G FGFR2 c.1566T>C p.D522= Synonymous 12/18 -
11-534284-A-G HRAS c.39T>C p.G13= Synonymous 2/6 -
11-108173686-T-C ATM c.5426T>C p.L1809P Missense 36/63 -
12-112926832-T-C PTPN11 c.1452T>C p.V484= Synonymous 13/16 -
17-37880242-A-G ERBB2 c.2286A>G p.K762= Synonymous 19/27 -
19-1207127-T-C STK11 c.215T>C p.L72P Missense 1/10 -
19-1220449-A-G STK11 c.542A>G p.N181S Missense 4/10 -
1-43815024-A-G MPL c.1559A>G p.H520R Missense 10/12 -
2-212587219-T-C ERBB4 c.782A>G p.Q261R Missense 7/28 -
4-1803622-T-C FGFR3 c.800T>C p.L267P Missense 7/18 -
3-41278090-G-A CTNNB1 c.1966G>A p.A656T Missense 13/15 -
7-151845934-A-G KMT2C c.13078T>C p.W4360R Missense 52/59 -
9-80409450-T-C GNAQ c.664A>G p.N222D Missense 5/7 -
12-25380267-T-C KRAS c.191A>G p.Y64C Missense 3/5 -
13-49039242-A-G RB1 c.2320A>G p.T774A Missense 22/27 -
16-68846040-T-C CDH1 c.1011T>C p.S337= Synonymous 8/16 -
17-7574022-A-G TP53 c.1005T>C p.R335= Synonymous 10/11 -
17-7579383-T-C TP53 c.304A>G p.T102A Missense 4/11 -
18-48573443-A-G SMAD4 c.27A>G p.T9= Synonymous 2/12 -
17-37864587-T-C ERBB2 c.239T>C p.V80A Missense 3/27 -
16-68772273-T-C CDH1 c.122T>C p.V41A Missense 2/16 -
16-68857344-T-C CDH1 c.1979T>C p.V660A Missense 13/16 -
12-25378568-T-C KRAS c.430A>G p.T144A Missense 4/5 -
12-121432061-A-G HNF1A c.808A>G p.N270D Missense 4/10 -
17-37881040-T-C ERBB2 c.2369T>C p.L790P Missense 20/27 -
17-37881433-A-G ERBB2 c.2625A>G p.T875= Synonymous 21/27 -
17-56448356-G-A RNF43 c.291C>T p.D97= Synonymous 3/10 -
18-48581218-T-C SMAD4 c.522T>C p.T174= Synonymous 5/12 -
18-48603055-T-C SMAD4 c.1356T>C p.A452= Synonymous 11/12 -
18-48604725-A-G SMAD4 c.1547A>G p.Q516R Missense 12/12 -
19-3121158-A-G GNA11 c.1061A>G p.K354R Missense 7/7 -
2-212530066-T-C ERBB4 c.1853A>G p.H618R Missense 15/28 -
3-178938866-A-G PIK3CA c.2108A>G p.N703S Missense 14/21 -
4-55946144-A-G KDR c.4035T>C p.P1345= Synonymous 30/30 -
12-121432014-T-C HNF1A c.761T>C p.L254P Missense 4/10 -
2-29474000-G-A ALK c.2175C>T p.I725= Synonymous 12/29 -
12-121432031-A-G HNF1A c.778A>G p.T260A Missense 4/10 -
17-7577507-T-C TP53 c.774A>G p.E258= Synonymous 7/11 -
1-115252205-T-C NRAS c.435A>G p.S145= Synonymous 4/7 -
1-115252230-T-C NRAS c.410A>G p.Y137C Missense 4/7 -
1-115256496-A-G NRAS c.215T>C p.M72T Missense 3/7 -
1-115256511-A-G NRAS c.200T>C p.M67T Missense 3/7 -
2-179594898-T-C TTN c.18229A>G p.T6077A Missense 62/363 -
2-179594913-A-G TTN c.18214T>C p.F6072L Missense 62/363 -
2-179594973-A-G TTN c.18154T>C p.L6052= Synonymous 62/363 -
2-179594971-T-C TTN c.18156A>G p.L6052= Synonymous 62/363 -
2-209113189-C-G IDH1 c.318G>C p.T106= Synonymous 4/10 -
2-212576841-A-G ERBB4 c.1058T>C p.I353T Missense 9/28 -
3-10191484-A-G VHL c.477A>G p.K159= Synonymous 3/3 -
3-178922344-G-A PIK3CA c.1113G>A p.V371= Synonymous 6/21 -
2-179650440-T-C TTN c.2400A>G p.E800= Synonymous 15/363 -
17-37880986-A-G ERBB2 c.2315A>G p.Y772C Missense 20/27 -
12-121432008-A-G HNF1A c.755A>G p.Q252R Missense 4/10 -
1-43814949-T-C MPL c.1484T>C p.V495A Missense 10/12 -
1-43815022-A-G MPL c.1557A>G p.A519= Synonymous 10/12 -
2-212652800-T-C ERBB4 c.506A>G p.N169S Missense 4/28 -
3-178947840-T-C PIK3CA c.2715T>C p.C905= Synonymous 19/21 -
7-128846016-A-G SMO c.946A>G p.I316V Missense 5/12 -
7-128846102-A-G SMO c.1032A>G p.K344= Synonymous 5/12 -
7-151878853-A-G KMT2C c.6092T>C p.L2031S Missense 36/59 -
7-151878879-T-C KMT2C c.6066A>G p.I2022M Missense 36/59 -
7-128845045-A-G SMO c.539A>G p.N180S Missense 3/12 -
3-178917620-T-C PIK3CA c.495T>C p.Y165= Synonymous 3/21 -
7-152008887-A-G KMT2C c.735T>C p.S245= Synonymous 5/59 -
10-105657338-G-A STN1 c.721C>T p.Q241* Nonsense 7/10 -
7-116340163-T-C MET c.1025T>C p.L342P Missense 2/21 -
7-116403219-T-C MET c.2480T>C p.L827P Missense 11/21 -
7-128851497-A-G SMO c.1822A>G p.N608D Missense 11/12 -
7-151891531-T-C KMT2C c.4501A>G p.T1501A Missense 29/59 -
9-80412473-T-C GNAQ c.568A>G p.I190V Missense 4/7 -
9-139390848-G-A NOTCH1 c.7343C>T p.P2448L Missense 34/34 -
11-533800-T-C HRAS c.256A>G p.N86D Missense 3/6 -
11-533803-T-C HRAS c.253A>G p.N85D Missense 3/6 -
11-533847-T-C HRAS c.209A>G p.Q70R Missense 3/6 -
11-533893-T-C HRAS c.163A>G p.I55V Missense 3/6 -
17-56448334-T-C RNF43 c.313A>G p.S105G Missense 3/10 -
13-48953781-A-G RB1 c.1384A>G p.K462E Missense 14/27 -
5-112173261-G-A APC c.1970G>A p.R657K Missense 16/16 -
13-28597533-A-G FLT3 c.2372T>C p.F791S Missense 19/24 -
22-24133996-A-G SMARCB1 c.147A>G p.S49= Synonymous 2/9 -
22-24143216-A-G SMARCB1 c.448A>G p.T150A Missense 4/9 -
11-533797-T-C HRAS c.259A>G p.T87A Missense 3/6 -
11-533810-A-G HRAS c.246T>C p.F82= Synonymous 3/6 -
11-533824-A-G HRAS c.232T>C p.F78L Missense 3/6 -
11-534237-A-G HRAS c.86T>C p.V29A Missense 2/6 -
11-108137986-A-G ATM c.2555A>G p.Q852R Missense 17/63 -
13-28610139-A-G FLT3 c.1351T>C p.S451P Missense 11/24 -
17-37880999-T-C ERBB2 c.2328T>C p.G776= Synonymous 20/27 -
18-48593434-T-C SMAD4 c.1185T>C p.G395= Synonymous 10/12 -
2-29432727-T-C ALK c.3761A>G p.N1254S Missense 25/29 -
2-179640811-A-G TTN c.5780T>C p.L1927P Missense 28/363 -
3-10188280-T-C VHL c.423T>C p.N141= Synonymous 2/3 -
3-178928081-A-G PIK3CA c.1359A>G p.E453= Synonymous 8/21 -
3-178928123-T-C PIK3CA c.1401T>C p.N467= Synonymous 8/21 -
4-1803619-T-C FGFR3 c.797T>C p.V266A Missense 7/18 -
4-55970827-C-T KDR c.1970G>A p.R657K Missense 13/30 -
4-55146630-T-C PDGFRA c.2304T>C p.Y768= Synonymous 16/23 -
7-151945147-A-G KMT2C c.2372T>C p.L791S Missense 14/59 -
4-55144630-A-G PDGFRA c.2104A>G p.K702E Missense 15/23 -
4-55979634-T-C KDR c.813A>G p.K271= Synonymous 7/30 -
5-112175395-A-G APC c.4104A>G p.T1368= Synonymous 16/16 -
5-112175522-A-G APC c.4231A>G p.S1411G Missense 16/16 -
11-534279-C-T HRAS c.44G>A p.G15D Missense 2/6 -
11-534282-A-G HRAS c.41T>C p.V14A Missense 2/6 -
11-108117806-T-C ATM c.1017T>C p.I339= Synonymous 8/63 -
11-108137957-T-C ATM c.2526T>C p.T842= Synonymous 17/63 -
11-108173734-A-G ATM c.5474A>G p.Q1825R Missense 36/63 -
11-108225561-T-C ATM c.8810T>C p.V2937A Missense 61/63 -
11-108236076-A-G ATM c.9012A>G p.K3004= Synonymous 63/63 -
12-121431458-A-G HNF1A c.662A>G p.Q221R Missense 3/10 -
12-121432056-T-C HNF1A c.803T>C p.F268S Missense 4/10 -
13-48955530-A-G RB1 c.1646A>G p.H549R Missense 17/27 -
13-49033878-A-G RB1 c.2015A>G p.E672G Missense 20/27 -
13-49037891-A-G RB1 c.2131A>G p.I711V Missense 21/27 -
16-68846101-A-G CDH1 c.1072A>G p.T358A Missense 8/16 -
16-68846107-A-G CDH1 c.1078A>G p.T360A Missense 8/16 -
17-7578228-A-G TP53 c.621T>C p.D207= Synonymous 6/11 -
17-7579866-T-C TP53 c.47A>G p.Q16R Missense 2/11 -
17-56432306-A-G RNF43 c.2350T>C p.*784Rext*5 Missense 10/10 -
18-48581202-A-G SMAD4 c.506A>G p.Q169R Missense 5/12 -
4-55955099-T-C KDR c.3446A>G p.Q1149R Missense 26/30 -
5-112175368-A-G APC c.4077A>G p.K1359= Synonymous 16/16 -
9-133761057-T-C ABL1 c.3380T>C p.I1127T Missense 11/11 -
7-140453102-T-C BRAF c.1833A>G p.E611= Synonymous 15/18 -
3-178917641-A-G PIK3CA c.516A>G p.E172= Synonymous 3/21 -
19-17947938-T-C JAK3 c.1786A>G p.S596G Missense 13/24 -
1-115256553-A-G NRAS c.158T>C p.L53S Missense 3/7 -
2-212587156-T-C ERBB4 c.845A>G p.K282R Missense 7/28 -
5-112102975-T-C APC c.310T>C p.S104P Missense 4/16 -
5-112173935-A-G APC c.2644A>G p.T882A Missense 16/16 -
5-112175220-A-G APC c.3929A>G p.K1310R Missense 16/16 -
7-128845175-A-G SMO c.669A>G p.T223= Synonymous 3/12 -
7-151845746-A-G KMT2C c.13266T>C p.L4422= Synonymous 52/59 -
10-43609078-T-C RET c.1834T>C p.F612L Missense 10/20 -
13-48878107-C-T RB1 c.59C>T p.P20L Missense 1/27 -
7-128829168-C-T SMO c.176C>T p.P59L Missense 1/12 -
22-24134072-A-G SMARCB1 c.223A>G p.N75D Missense 2/9 -
1-115256558-A-G NRAS c.153T>C p.C51= Synonymous 3/7 -
3-10183844-A-G VHL c.313A>G p.T105A Missense 1/3 -
3-41266041-C-T CTNNB1 c.38C>T p.A13V Missense 3/15 -
1-43812229-T-C MPL c.1094T>C p.L365P Missense 7/12 -
4-55575595-T-C KIT c.1121T>C p.V374A Missense 7/21 -
4-1806139-C-T FGFR3 c.1158C>T p.F386= Synonymous 9/18 -
2-212426785-T-C ERBB4 c.2330A>G p.H777R Missense 20/28 -
7-116340273-A-G MET c.1135A>G p.N379D Missense 2/21 -
7-116340280-A-G MET c.1142A>G p.N381S Missense 2/21 -
7-55259504-A-G EGFR c.2562A>G p.T854= Synonymous 21/28 -
9-80336382-A-G GNAQ c.937T>C p.F313L Missense 7/7 -
9-139390868-T-C NOTCH1 c.7323A>G p.A2441= Synonymous 34/34 -
9-139397744-A-G NOTCH1 c.5057T>C p.V1686A Missense 27/34 -
9-139399339-T-C NOTCH1 c.4804A>G p.T1602A Missense 26/34 -
9-139399375-A-G NOTCH1 c.4768T>C p.F1590L Missense 26/34 -
10-43609934-T-C RET c.1886T>C p.L629P Missense 11/20 -
10-43617446-A-G RET c.2783A>G p.Y928C Missense 16/20 -
10-105657364-A-G STN1 c.695T>C p.V232A Missense 7/10 -
13-28608342-A-G FLT3 c.1714T>C p.Y572H Missense 14/24 -
10-43604536-T-C RET c.1121T>C p.V374A Missense 6/20 -
9-80336250-T-C GNAQ c.1069A>G p.N357D Missense 7/7 -
9-80336302-A-G GNAQ c.1017T>C p.F339= Synonymous 7/7 -
10-123279671-T-C FGFR2 c.761A>G p.H254R Missense 7/18 -
11-108180978-T-C ATM c.5854T>C p.F1952L Missense 39/63 -
13-48955460-T-C RB1 c.1576T>C p.F526L Missense 17/27 -
16-68846121-A-G CDH1 c.1092A>G p.T364= Synonymous 8/16 -
17-56436064-A-G RNF43 c.1073T>C p.L358P Missense 9/10 -
17-56492697-T-C RNF43 c.242A>G p.K81R Missense 2/10 -
18-48604699-A-G SMAD4 c.1521A>G p.K507= Synonymous 12/12 -
19-1221274-A-G STK11 c.797A>G p.N266S Missense 6/10 -
19-17945693-T-C JAK3 c.2167A>G p.T723A Missense 16/24 -
18-48591822-T-C SMAD4 c.985T>C p.F329L Missense 9/12 -
18-48603081-A-G SMAD4 c.1382A>G p.Q461R Missense 11/12 -
19-1207033-A-G STK11 c.121A>G p.K41E Missense 1/10 -
19-3121005-A-G GNA11 c.908A>G p.Q303R Missense 7/7 -
19-3121070-T-C GNA11 c.973T>C p.Y325H Missense 7/7 -
19-17945754-A-G JAK3 c.2106T>C p.L702= Synonymous 16/24 -
10-89717709-A-G PTEN c.734A>G p.Q245R Missense 7/9 -
7-128828994-T-C SMO c.2T>C p.M1? Missense 1/12 -
11-108173684-A-G ATM c.5424A>G p.T1808= Synonymous 36/63 -
13-28610172-G-A FLT3 c.1318C>T p.Q440* Nonsense 11/24 -
13-48941640-T-C RB1 c.950T>C p.L317P Missense 10/27 -
2-212587248-A-G ERBB4 c.753T>C p.N251= Synonymous 7/28 -
3-10183800-A-G VHL c.269A>G p.N90S Missense 1/3 -
2-29474056-T-C ALK c.2119A>G p.N707D Missense 12/29 -
22-40055457-T-C CACNA1I c.2350T>C p.F784L Missense 13/37 -
4-1808980-G-A FGFR3 c.2412G>A p.S804= Synonymous 18/18 -
4-55962493-A-G KDR c.2631T>C p.S877= Synonymous 19/30 -
7-128845099-T-C SMO c.593T>C p.V198A Missense 3/12 -
7-151970936-T-C KMT2C c.866A>G p.K289R Missense 7/59 -
7-151960169-T-C KMT2C c.1231A>G p.K411E Missense 9/59 -
9-139397727-A-G NOTCH1 c.5074T>C p.C1692R Missense 27/34 -
9-139399413-A-G NOTCH1 c.4730T>C p.V1577A Missense 26/34 -
10-43609958-T-C RET c.1910T>C p.V637A Missense 11/20 -
10-43610000-T-C RET c.1952T>C p.L651P Missense 11/20 -
7-116381010-A-G MET c.1632A>G p.K544= Synonymous 5/21 -
11-108170572-A-G ATM c.5137A>G p.I1713V Missense 34/63 -
12-25380265-T-C KRAS c.193A>G p.S65G Missense 3/5 -
7-151945169-A-G KMT2C c.2350T>C p.S784P Missense 14/59 -
22-40036997-A-G CACNA1I c.866A>G p.Q289R Missense 6/37 -
4-55136909-A-G PDGFRA c.1231A>G p.T411A Missense 8/23 -
17-7573937-C-T TP53 c.1090G>A p.A364T Missense 10/11 -
17-7577062-T-C TP53 c.876A>G p.K292= Synonymous 8/11 -
17-56448392-G-A RNF43 c.255C>T p.S85= Synonymous 3/10 -
19-3119328-A-G GNA11 c.860A>G p.H287R Missense 6/7 -
1-43814978-A-G MPL c.1513A>G p.S505G Missense 10/12 -
1-115256507-T-C NRAS c.204A>G p.R68= Synonymous 3/7 -
2-29443661-T-C ALK c.3556A>G p.S1186G Missense 23/29 -
13-48919229-T-C RB1 c.394T>C p.F132L Missense 4/27 -
13-49033855-A-G RB1 c.1992A>G p.T664= Synonymous 20/27 -
13-49033864-A-G RB1 c.2001A>G p.E667= Synonymous 20/27 -
15-90631931-T-C IDH2 c.422A>G p.N141S Missense 4/11 -
2-209116274-A-G IDH1 c.2T>C p.M1? Missense 3/10 -
17-37881044-A-G ERBB2 c.2373A>G p.T791= Synonymous 20/27 -
17-56492918-C-T RNF43 c.21G>A p.L7= Synonymous 2/10 -
17-56492920-G-A RNF43 c.19C>T p.L7= Synonymous 2/10 -
18-48581299-A-G SMAD4 c.603A>G p.L201= Synonymous 5/12 -
18-48581297-T-C SMAD4 c.601T>C p.L201= Synonymous 5/12 -
19-1207071-C-T STK11 c.159C>T p.D53= Synonymous 1/10 -
19-3115044-T-C GNA11 c.579T>C p.P193= Synonymous 4/7 -
19-3118998-T-C GNA11 c.682T>C p.F228L Missense 5/7 -
19-3119020-A-G GNA11 c.704A>G p.Y235C Missense 5/7 -
19-17945705-A-G JAK3 c.2155T>C p.F719L Missense 16/24 -
19-17945788-A-G JAK3 c.2072T>C p.V691A Missense 16/24 -
19-17954281-A-G JAK3 c.328T>C p.F110L Missense 4/24 -
2-179595712-T-C TTN c.17680A>G p.T5894A Missense 60/363 -
2-212587192-G-A ERBB4 c.809C>T p.P270L Missense 7/28 -
4-55592136-G-A KIT c.1460G>A p.G487D Missense 9/21 -
7-55214386-A-G EGFR c.512A>G p.D171G Missense 4/28 -
9-21971198-T-C CDKN2A c.160A>G p.M54V Missense 2/3 -
9-80343491-T-C GNAQ c.828A>G p.K276= Synonymous 6/7 -
4-55984803-T-C KDR c.326A>G p.D109G Missense 3/30 -
13-48955501-A-G RB1 c.1617A>G p.E539= Synonymous 17/27 -
13-49037941-A-G RB1 c.2181A>G p.A727= Synonymous 21/27 -
16-68847255-A-G CDH1 c.1177A>G p.I393V Missense 9/16 -
17-37881025-T-C ERBB2 c.2354T>C p.L785P Missense 20/27 -
18-48575672-A-G SMAD4 c.432A>G p.S144= Synonymous 4/12 -
18-48581235-A-G SMAD4 c.539A>G p.Q180R Missense 5/12 -
3-178947076-T-C PIK3CA c.2512T>C p.C838R Missense 18/21 -
18-48604671-T-C SMAD4 c.1493T>C p.L498S Missense 12/12 -
19-1223067-T-C STK11 c.1004T>C p.M335T Missense 8/10 -
19-17945679-A-G JAK3 c.2181T>C p.S727= Synonymous 16/24 -
22-24134050-A-G SMARCB1 c.201A>G p.S67= Synonymous 2/9 -
22-40058219-C-T CACNA1I c.3151C>T p.R1051C Missense 17/37 -
2-212587151-T-C ERBB4 c.850A>G p.T284A Missense 7/28 -
2-212589854-A-G ERBB4 c.688T>C p.C230R Missense 6/28 -
3-178927475-A-G PIK3CA c.1238A>G p.K413R Missense 7/21 -
5-112173958-A-G APC c.2667A>G p.K889= Synonymous 16/16 -
5-112175337-A-G APC c.4046A>G p.H1349R Missense 16/16 -
4-55960990-T-C KDR c.2950A>G p.S984G Missense 21/30 -
7-151845802-A-G KMT2C c.13210T>C p.F4404L Missense 52/59 -
7-151891607-A-G KMT2C c.4425T>C p.N1475= Synonymous 29/59 -
9-80336359-A-G GNAQ c.960T>C p.S320= Synonymous 7/7 -
9-80412467-A-G GNAQ c.574T>C p.Y192H Missense 4/7 -
9-80336419-T-C GNAQ c.900A>G p.R300= Synonymous 7/7 -
3-41267346-A-G CTNNB1 c.930A>G p.E310= Synonymous 6/15 -
9-139390746-A-G NOTCH1 c.7445T>C p.L2482P Missense 34/34 -
10-43609946-T-C RET c.1898T>C p.L633P Missense 11/20 -
10-123258086-A-G FGFR2 c.1595T>C p.V532A Missense 12/18 -
12-121432006-A-G HNF1A c.753A>G p.A251= Synonymous 4/10 -
18-48575101-T-C SMAD4 c.295T>C p.W99R Missense 3/12 -
18-48603118-A-G SMAD4 c.1419A>G p.G473= Synonymous 11/12 -
19-1221222-A-G STK11 c.745A>G p.T249A Missense 6/10 -
9-133747536-A-G ABL1 c.843A>G p.E281= Synonymous 5/11 -
13-28592631-A-G FLT3 c.2514T>C p.S838= Synonymous 20/24 -
4-55144584-G-A PDGFRA c.2058G>A p.L686= Synonymous 15/23 -
7-55233057-A-G EGFR c.1807A>G p.N603D Missense 15/28 -
7-151921680-T-C KMT2C c.2998A>G p.K1000E Missense 19/59 -
7-128846079-T-C SMO c.1009T>C p.Y337H Missense 5/12 -
10-43615540-G-A RET c.2619G>A p.R873= Synonymous 15/20 -
10-43615557-A-G RET c.2636A>G p.N879S Missense 15/20 -
13-28608319-T-C FLT3 c.1737A>G p.V579= Synonymous 14/24 -
2-212812337-A-G ERBB4 c.239T>C p.V80A Missense 3/28 -
22-40058193-A-G CACNA1I c.3125A>G p.H1042R Missense 17/37 -
17-7578516-G-T TP53 c.414C>A p.A138= Synonymous 5/11 -
17-7578516-G-C TP53 c.414C>G p.A138= Synonymous 5/11 -
17-37881386-A-G ERBB2 c.2578A>G p.K860E Missense 21/27 -
18-48604735-A-G SMAD4 c.1557A>G p.K519= Synonymous 12/12 -
19-17945759-T-C JAK3 c.2101A>G p.T701A Missense 16/24 -
22-40058175-A-G CACNA1I c.3107A>G p.H1036R Missense 17/37 -
17-37868674-T-C ERBB2 c.1121T>C p.L374P Missense 9/27 -
19-3119240-A-G GNA11 c.772A>G p.I258V Missense 6/7 -
19-3119250-A-G GNA11 c.782A>G p.Y261C Missense 6/7 -
19-3121167-A-G GNA11 c.1070A>G p.N357S Missense 7/7 -
19-17945690-T-C JAK3 c.2170A>G p.M724V Missense 16/24 -
19-17947982-T-C JAK3 c.1742A>G p.Y581C Missense 13/24 -
19-17954249-T-C JAK3 c.360A>G p.L120= Synonymous 4/24 -
22-40058218-C-T CACNA1I c.3150C>T p.H1050= Synonymous 17/37 -
2-212530075-T-C ERBB4 c.1844A>G p.H615R Missense 15/28 -
3-10183835-C-T VHL c.304C>T p.P102S Missense 1/3 -
5-112175285-A-G APC c.3994A>G p.T1332A Missense 16/16 -
7-55221831-T-C EGFR c.875T>C p.V292A Missense 7/28 -
7-128845076-A-G SMO c.570A>G p.S190= Synonymous 3/12 -
7-128845081-A-G SMO c.575A>G p.Q192R Missense 3/12 -
7-140481481-T-C BRAF c.1327A>G p.R443G Missense 11/18 -
7-140482904-T-C BRAF c.1231A>G p.T411A Missense 10/18 -
10-105658649-T-C STN1 c.567A>G p.K189= Synonymous 6/10 -
11-534272-A-G HRAS c.51T>C p.S17= Synonymous 2/6 -
12-121431420-A-G HNF1A c.624A>G p.P208= Synonymous 3/10 -
15-90631856-T-C IDH2 c.497A>G p.K166R Missense 4/11 -
16-68846125-A-G CDH1 c.1096A>G p.T366A Missense 8/16 -
18-48575139-T-C SMAD4 c.333T>C p.H111= Synonymous 3/12 -
19-1207087-T-C STK11 c.175T>C p.S59P Missense 1/10 -
2-179415814-T-C TTN c.91444A>G p.T30482A Missense 336/363 -
2-179594948-A-G TTN c.18179T>C p.V6060A Missense 62/363 -
13-28622464-A-G FLT3 c.1153T>C p.F385L Missense 9/24 -
19-1223047-C-T STK11 c.984C>T p.T328= Synonymous 8/10 -
17-56437516-T-C RNF43 c.946A>G p.I316V Missense 8/10 -
18-48575107-T-C SMAD4 c.301T>C p.W101R Missense 3/12 -
18-48575153-A-G SMAD4 c.347A>G p.Q116R Missense 3/12 -
19-1207129-T-C STK11 c.217T>C p.C73R Missense 1/10 -
19-1221269-T-C STK11 c.792T>C p.F264= Synonymous 6/10 -
9-80343529-A-G GNAQ c.790T>C p.F264L Missense 6/7 -
9-80412447-A-G GNAQ c.594T>C p.S198= Synonymous 4/7 -
9-139390743-G-A NOTCH1 c.7448C>T p.T2483M Missense 34/34 -
9-139399437-A-G NOTCH1 c.4706T>C p.L1569P Missense 26/34 -
10-89692861-T-C PTEN c.345T>C p.D115= Synonymous 5/9 -
10-123279606-A-G FGFR2 c.826T>C p.F276L Missense 7/18 -
11-534256-G-A HRAS c.67C>T p.L23= Synonymous 2/6 -
1-43806085-T-C MPL c.881T>C p.L294S Missense 6/12 -
19-3115023-C-T GNA11 c.558C>T p.T186= Synonymous 4/7 -
1-43815014-T-C MPL c.1549T>C p.F517L Missense 10/12 -
2-29443678-A-G ALK c.3539T>C p.V1180A Missense 23/29 -
3-10188246-T-C VHL c.389T>C p.V130A Missense 2/3 -
4-55597522-A-G KIT c.2170A>G p.M724V Missense 15/21 -
4-55955101-A-G KDR c.3444T>C p.S1148= Synonymous 26/30 -
5-170837565-T-C NPM1 c.881T>C p.L294P Missense 11/11 -
7-55259481-A-C EGFR c.2539A>C p.T847P Missense 21/28 -
7-128845173-A-G SMO c.667A>G p.T223A Missense 3/12 -
7-128846378-T-C SMO c.1214T>C p.L405P Missense 6/12 -
1-115256505-T-C NRAS c.206A>G p.D69G Missense 3/7 -
3-10188282-T-C VHL c.425T>C p.V142A Missense 2/3 -
4-55152066-A-G PDGFRA c.2498A>G p.K833R Missense 18/23 -
4-55955047-A-G KDR c.3498T>C p.A1166= Synonymous 26/30 -
5-112175462-A-G APC c.4171A>G p.S1391G Missense 16/16 -
7-116403253-T-C MET c.2514T>C p.N838= Synonymous 11/21 -
7-151845785-A-G KMT2C c.13227T>C p.G4409= Synonymous 52/59 -
8-38282112-T-C FGFR1 c.851A>G p.Q284R Missense 7/18 -
9-80409392-T-C GNAQ c.722A>G p.E241G Missense 5/7 -
7-151962270-A-G KMT2C c.1037T>C p.V346A Missense 8/59 -
11-108236092-T-C ATM c.9028T>C p.L3010= Synonymous 63/63 -
17-37880992-T-C ERBB2 c.2321T>C p.M774T Missense 20/27 -
19-1207109-T-C STK11 c.197T>C p.V66A Missense 1/10 -
19-3114947-T-C GNA11 c.482T>C p.L161P Missense 4/7 -
19-17954216-C-T JAK3 c.393G>A p.L131= Synonymous 4/24 -
2-179415865-T-C TTN c.91393A>G p.N30465D Missense 336/363 -
2-179594934-T-C TTN c.18193A>G p.T6065A Missense 62/363 -
3-10183775-C-T VHL c.244C>T p.R82C Missense 1/3 -
4-55152077-T-C PDGFRA c.2509T>C p.F837L Missense 18/23 -
7-151845723-A-G KMT2C c.13289T>C p.L4430S Missense 52/59 -
4-55593992-A-G KIT c.1778A>G p.K593R Missense 12/21 -
19-17951143-A-G JAK3 c.1150T>C p.F384L Missense 9/24 -
19-17951141-A-T JAK3 c.1152T>A p.F384L Missense 9/24 -
19-17951141-A-C JAK3 c.1152T>G p.F384L Missense 9/24 -
7-128846107-T-C SMO c.1037T>C p.L346P Missense 5/12 -
16-68846052-T-C CDH1 c.1023T>C p.Y341= Synonymous 8/16 -
16-68847258-A-G CDH1 c.1180A>G p.T394A Missense 9/16 -
17-37881344-T-C ERBB2 c.2536T>C p.L846= Synonymous 21/27 -
17-37881438-A-G ERBB2 c.2630A>G p.Y877C Missense 21/27 -
17-56440689-A-G RNF43 c.529T>C p.Y177H Missense 5/10 -
18-48584770-A-G SMAD4 c.848A>G p.H283R Missense 7/12 -
18-48604761-A-G SMAD4 c.1583A>G p.H528R Missense 12/12 -
19-3118927-T-C GNA11 c.611T>C p.V204A Missense 5/7 -
19-17945742-A-G JAK3 c.2118T>C p.A706= Synonymous 16/24 -
22-40058217-A-G CACNA1I c.3149A>G p.H1050R Missense 17/37 -
11-108205734-A-G ATM c.8049A>G p.I2683M Missense 55/63 -
11-108236190-C-T ATM c.9126C>T p.P3042= Synonymous 63/63 -
13-28608296-T-C FLT3 c.1760A>G p.N587S Missense 14/24 -
13-28610177-T-C FLT3 c.1313A>G p.K438R Missense 11/24 -
3-10191554-T-C VHL c.547T>C p.S183P Missense 3/3 -
3-37067276-T-C MLH1 c.1187T>C p.F396S Missense 12/19 -
3-41266117-T-C CTNNB1 c.114T>C p.G38= Synonymous 3/15 -
13-28597601-A-G FLT3 c.2304T>C p.Y768= Synonymous 19/24 -
4-55960982-T-C KDR c.2958A>G p.V986= Synonymous 21/30 -
7-116339630-A-G MET c.492A>G p.P164= Synonymous 2/21 -
7-128846051-T-C SMO c.981T>C p.A327= Synonymous 5/12 -
7-128846064-T-C SMO c.994T>C p.F332L Missense 5/12 -
4-55129985-C-T PDGFRA c.519C>T p.D173= Synonymous 4/23 -
4-55963900-A-G KDR c.2543T>C p.V848A Missense 18/30 -
19-3119289-A-G GNA11 c.821A>G p.N274S Missense 6/7 -
9-139390807-G-A NOTCH1 c.7384C>T p.P2462S Missense 34/34 -
9-139397677-C-A NOTCH1 c.5124G>T p.S1708= Synonymous 27/34 -
9-139397677-C-T NOTCH1 c.5124G>A p.S1708= Synonymous 27/34 -
9-139397748-A-G NOTCH1 c.5053T>C p.C1685R Missense 27/34 -
13-28610176-T-C FLT3 c.1314A>G p.K438= Synonymous 11/24 -
13-48955493-A-G RB1 c.1609A>G p.K537E Missense 17/27 -
16-68847219-A-G CDH1 c.1141A>G p.K381E Missense 9/16 -
17-37881078-T-C ERBB2 c.2407T>C p.Y803H Missense 20/27 -
17-56448318-T-C RNF43 c.329A>G p.E110G Missense 3/10 -
19-1207048-A-G STK11 c.136A>G p.I46V Missense 1/10 -
19-3121143-T-C GNA11 c.1046T>C p.L349P Missense 7/7 -
3-41274854-T-C CTNNB1 c.1104T>C p.L368= Synonymous 8/15 -
2-212570069-A-G ERBB4 c.1172T>C p.V391A Missense 10/28 -
3-41278195-A-G CTNNB1 c.2071A>G p.N691D Missense 13/15 -
4-55961047-T-C KDR c.2893A>G p.S965G Missense 21/30 -
7-116411994-A-G MET c.2979A>G p.T993= Synonymous 14/21 -
7-128846376-G-A SMO c.1212G>A p.V404= Synonymous 6/12 -
9-139390750-A-G NOTCH1 c.7441T>C p.F2481L Missense 34/34 -
10-105657357-A-G STN1 c.702T>C p.S234= Synonymous 7/10 -
11-533808-G-A HRAS c.248C>T p.A83V Missense 3/6 -
13-28592691-A-G FLT3 c.2454T>C p.L818= Synonymous 20/24 -
17-7574020-T-C TP53 c.1007A>G p.E336G Missense 10/11 -
12-25362762-T-C KRAS c.534A>G p.K178= Synonymous 5/5 -
9-139390760-G-A NOTCH1 c.7431C>T p.T2477= Synonymous 34/34 -
9-139390847-G-A NOTCH1 c.7344C>T p.P2448= Synonymous 34/34 -
10-123279532-T-C FGFR2 c.900A>G p.K300= Synonymous 7/18 -
11-533799-T-C HRAS c.257A>G p.N86S Missense 3/6 -
11-108218073-A-G ATM c.8652A>G p.E2884= Synonymous 59/63 -
11-108236085-A-G ATM c.9021A>G p.E3007= Synonymous 63/63 -
13-48942663-T-C RB1 c.1050T>C p.S350= Synonymous 11/27 -
17-37881424-T-C ERBB2 c.2616T>C p.I872= Synonymous 21/27 -
17-56440667-A-G RNF43 c.551T>C p.V184A Missense 5/10 -
17-56492932-C-T RNF43 c.7G>A p.G3S Missense 2/10 -
19-3121015-G-A GNA11 c.918G>A p.R306= Synonymous 7/7 -
19-17945723-C-T JAK3 c.2137G>A p.A713T Missense 16/24 -
22-24134066-A-G SMARCB1 c.217A>G p.K73E Missense 2/9 -
7-128845126-A-G SMO c.620A>G p.Y207C Missense 3/12 -
7-128846100-A-G SMO c.1030A>G p.K344E Missense 5/12 -
7-151845948-A-G KMT2C c.13064T>C p.M4355T Missense 52/59 -
22-39966859-C-T CACNA1I c.102C>T p.S34= Synonymous 1/37 -
22-39966859-C-G CACNA1I c.102C>G p.S34= Synonymous 1/37 -
22-39966859-C-A CACNA1I c.102C>A p.S34= Synonymous 1/37 -
9-5029795-T-C JAK2 c.239T>C p.V80A Missense 4/25 -
17-7572970-T-C TP53 c.1139A>G p.H380R Missense 11/11 -
3-10188291-A-G VHL c.434A>G p.Q145R Missense 2/3 -
17-56437610-C-T RNF43 c.852G>A p.E284= Synonymous 8/10 -
18-48575161-T-C SMAD4 c.355T>C p.F119L Missense 3/12 -
19-3121166-A-G GNA11 c.1069A>G p.N357D Missense 7/7 -
19-17947983-A-G JAK3 c.1741T>C p.Y581H Missense 13/24 -
1-115252224-A-G NRAS c.416T>C p.I139T Missense 4/7 -
2-209113145-A-G IDH1 c.362T>C p.V121A Missense 4/10 -
2-212530079-A-G ERBB4 c.1840T>C p.C614R Missense 15/28 -
10-105658661-T-C STN1 c.555A>G p.S185= Synonymous 6/10 -
11-533879-G-A HRAS c.177C>T p.A59= Synonymous 3/6 -
11-533879-G-C HRAS c.177C>G p.A59= Synonymous 3/6 -
12-121431412-T-C HNF1A c.616T>C p.W206R Missense 3/10 -
16-68847263-A-G CDH1 c.1185A>G p.T395= Synonymous 9/16 -
16-68847269-A-G CDH1 c.1191A>G p.K397= Synonymous 9/16 -
19-3121019-T-C GNA11 c.922T>C p.F308L Missense 7/7 -
19-3121026-T-C GNA11 c.929T>C p.L310P Missense 7/7 -
17-56440642-C-T RNF43 c.576G>A p.P192= Synonymous 5/10 -
17-37868691-A-G ERBB2 c.1138A>G p.S380G Missense 9/27 -
11-108172447-G-T ATM c.5250G>T p.W1750C Missense 35/63 -
2-212570083-T-C ERBB4 c.1158A>G p.P386= Synonymous 10/28 -
22-40058205-T-C CACNA1I c.3137T>C p.L1046P Missense 17/37 -
4-1803623-G-T FGFR3 c.801G>T p.L267= Synonymous 7/18 -
7-128846045-G-A SMO c.975G>A p.L325= Synonymous 5/12 -
10-89692865-A-G PTEN c.349A>G p.N117D Missense 5/9 -
19-3121152-A-G GNA11 c.1055A>G p.N352S Missense 7/7 -
7-128846396-T-C SMO c.1232T>C p.V411A Missense 6/12 -
10-43622138-T-C RET c.3155T>C p.L1052P Missense 19/20 -
3-41266060-A-G CTNNB1 c.57A>G p.K19= Synonymous 3/15 -
3-178927419-T-C PIK3CA c.1182T>C p.P394= Synonymous 7/21 -
4-55946127-A-G KDR c.4052T>C p.L1351P Missense 30/30 -
5-112174603-A-G APC c.3312A>G p.S1104= Synonymous 16/16 -
7-55259522-A-G EGFR c.2580A>G p.K860= Synonymous 21/28 -
7-116411996-A-G MET c.2981A>G p.E994G Missense 14/21 -
7-128845117-A-G SMO c.611A>G p.K204R Missense 3/12 -
9-80336372-A-G GNAQ c.947T>C p.L316P Missense 7/7 -
7-151962147-T-C KMT2C c.1160A>G p.E387G Missense 8/59 -
13-28623872-A-G FLT3 c.782T>C p.F261S Missense 7/24 -
2-212587184-A-G ERBB4 c.817T>C p.F273L Missense 7/28 -
3-178928105-T-C PIK3CA c.1383T>C p.V461= Synonymous 8/21 -
5-112175300-C-T APC c.4009C>T p.L1337= Synonymous 16/16 -
7-116339604-T-C MET c.466T>C p.S156P Missense 2/21 -
9-80336252-T-C GNAQ c.1067A>G p.Y356C Missense 7/7 -
9-80412449-T-C GNAQ c.592A>G p.S198G Missense 4/7 -
11-534321-A-G HRAS c.2T>C p.M1? Missense 2/6 -
11-534311-A-G HRAS c.12T>C p.Y4= Synonymous 2/6 -
12-121432017-G-A HNF1A c.764G>A p.G255D Missense 4/10 -
16-68846066-A-G CDH1 c.1037A>G p.Q346R Missense 8/16 -
2-209113177-T-C IDH1 c.330A>G p.E110= Synonymous 4/10 -
2-212576834-T-C ERBB4 c.1065A>G p.K355= Synonymous 9/28 -
3-37067340-A-G MLH1 c.1251A>G p.T417= Synonymous 12/19 -
3-178916832-T-C PIK3CA c.219T>C p.V73= Synonymous 2/21 -
4-55602702-T-C KIT c.2523T>C p.I841= Synonymous 18/21 -
7-55268935-C-T EGFR c.3001C>T p.L1001= Synonymous 25/28 -
7-116423505-T-C MET c.3780T>C p.F1260= Synonymous 19/21 -
10-43609083-T-C RET c.1839T>C p.P613= Synonymous 10/20 -
11-108117803-T-C ATM c.1014T>C p.N338= Synonymous 8/63 -
11-108173690-T-C ATM c.5430T>C p.T1810= Synonymous 36/63 -
12-112926841-T-C PTPN11 c.1461T>C p.D487= Synonymous 13/16 -
12-121431461-A-G HNF1A c.665A>G p.K222R Missense 3/10 -
10-89624228-T-C PTEN c.2T>C p.M1? Missense 1/9 -
7-128850334-A-G SMO c.1597A>G p.S533G Missense 9/12 -
10-43615533-T-C RET c.2612T>C p.V871A Missense 15/20 -
3-10183852-C-T VHL c.321C>T p.R107= Synonymous 1/3 -
5-112173616-T-C APC c.2325T>C p.N775= Synonymous 16/16 -
7-152008889-A-G KMT2C c.733T>C p.S245P Missense 5/59 -
13-28610113-T-C FLT3 c.1377A>G p.L459= Synonymous 11/24 -
19-17945681-T-C JAK3 c.2179A>G p.S727G Missense 16/24 -
22-24134063-A-G SMARCB1 c.214A>G p.T72A Missense 2/9 -
22-24176365-T-C SMARCB1 c.1156T>C p.*386Qext*36 Missense 9/9 -
5-112175099-T-C APC c.3808T>C p.C1270R Missense 16/16 -
5-112175933-A-G APC c.4642A>G p.N1548D Missense 16/16 -
4-1803634-T-C FGFR3 c.812T>C p.V271A Missense 7/18 -
2-212522494-A-G ERBB4 c.1931T>C p.L644S Missense 16/28 -
4-55144141-T-C PDGFRA c.1970T>C p.I657T Missense 14/23 -
4-55599326-A-G KIT c.2452A>G p.K818E Missense 17/21 -
7-151845810-T-C KMT2C c.13202A>G p.K4401R Missense 52/59 -
5-112136995-A-G APC c.749A>G p.H250R Missense 8/16 -
9-133748423-A-G ABL1 c.1084A>G p.R362G Missense 6/11 -
9-139390769-T-C NOTCH1 c.7422A>G p.P2474= Synonymous 34/34 -
3-10183796-C-T VHL c.265C>T p.L89F Missense 1/3 -
9-80409401-A-G GNAQ c.713T>C p.V238A Missense 5/7 -
11-108206585-T-C ATM c.8165T>C p.L2722P Missense 56/63 -
18-48584823-T-C SMAD4 c.901T>C p.Y301H Missense 7/12 -
1-43815012-A-G MPL c.1547A>G p.Q516R Missense 10/12 -
1-115256525-T-C NRAS c.186A>G p.E62= Synonymous 3/7 -
2-29443586-T-C ALK c.3631A>G p.T1211A Missense 23/29 -
2-179474210-T-C TTN c.51827A>G p.Y17276C Missense 273/363 -
2-179486418-T-C TTN c.45133A>G p.T15045A Missense 245/363 -
2-179640746-A-G TTN c.5845T>C p.F1949L Missense 28/363 -
3-41266092-A-G CTNNB1 c.89A>G p.Y30C Missense 3/15 -
3-178938873-A-G PIK3CA c.2115A>G p.Q705= Synonymous 14/21 -
18-48575108-G-A SMAD4 c.302G>A p.W101* Nonsense 3/12 -
1-115258705-T-C NRAS c.77A>G p.N26S Missense 2/7 -
2-212587238-T-C ERBB4 c.763A>G p.S255G Missense 7/28 -
17-37881033-A-G ERBB2 c.2362A>G p.I788V Missense 20/27 -
18-48575117-T-C SMAD4 c.311T>C p.L104P Missense 3/12 -
1-43814964-T-C MPL c.1499T>C p.L500P Missense 10/12 -
1-115256563-T-C NRAS c.148A>G p.T50A Missense 3/7 -
4-55138573-T-C PDGFRA c.1250T>C p.I417T Missense 9/23 -
4-55565925-A-G KIT c.749A>G p.N250S Missense 4/21 -
9-133738292-A-G ABL1 c.692A>G p.N231S Missense 4/11 -
9-133748366-A-G ABL1 c.1027A>G p.M343V Missense 6/11 -
13-28610120-T-C FLT3 c.1370A>G p.Y457C Missense 11/24 -
22-40045905-G-A CACNA1I c.1967G>A p.S656N Missense 10/37 -
11-108206577-T-C ATM c.8157T>C p.R2719= Synonymous 56/63 -
3-178947801-A-G PIK3CA c.2676A>G p.A892= Synonymous 19/21 -
2-212426748-G-A ERBB4 c.2367C>T p.S789= Synonymous 20/28 -
19-17943702-A-G JAK3 c.2387T>C p.L796P Missense 18/24 -
4-55152019-T-C PDGFRA c.2451T>C p.R817= Synonymous 18/23 -
4-55152095-A-G PDGFRA c.2527A>G p.I843V Missense 18/23 -
4-55592208-A-G KIT c.1532A>G p.N511S Missense 9/21 -
4-55955046-T-C KDR c.3499A>G p.N1167D Missense 26/30 -
4-55961094-T-C KDR c.2846A>G p.K949R Missense 21/30 -
4-55979555-T-C KDR c.892A>G p.T298A Missense 7/30 -
4-1808929-C-T FGFR3 c.2361C>T p.S787= Synonymous 18/18 -
7-55221815-T-C EGFR c.859T>C p.F287L Missense 7/28 -
5-112175088-A-G APC c.3797A>G p.D1266G Missense 16/16 -
7-128851490-T-C SMO c.1815T>C p.F605= Synonymous 11/12 -
9-80409424-T-C GNAQ c.690A>G p.V230= Synonymous 5/7 -
8-38283647-A-G FGFR1 c.738T>C p.D246= Synonymous 6/18 -
9-80343544-T-C GNAQ c.775A>G p.I259V Missense 6/7 -
9-80343522-T-C GNAQ c.797A>G p.N266S Missense 6/7 -
7-116371728-C-T MET c.1207C>T p.L403= Synonymous 3/21 -
9-139390805-G-A NOTCH1 c.7386C>T p.P2462= Synonymous 34/34 -
10-105657328-A-G STN1 c.731T>C p.I244T Missense 7/10 -
11-108173678-A-G ATM c.5418A>G p.I1806M Missense 36/63 -
11-108236082-T-C ATM c.9018T>C p.A3006= Synonymous 63/63 -
13-28610144-T-C FLT3 c.1346A>G p.Q449R Missense 11/24 -
13-48919231-T-C RB1 c.396T>C p.F132= Synonymous 4/27 -
13-48953780-T-C RB1 c.1383T>C p.L461= Synonymous 14/27 -
13-48955514-A-G RB1 c.1630A>G p.R544G Missense 17/27 -
15-90631843-A-G IDH2 c.510T>C p.I170= Synonymous 4/11 -
16-68846127-T-C CDH1 c.1098T>C p.T366= Synonymous 8/16 -
16-68847271-T-C CDH1 c.1193T>C p.V398A Missense 9/16 -
16-68847275-T-C CDH1 c.1197T>C p.T399= Synonymous 9/16 -
17-56437553-T-C RNF43 c.909A>G p.L303= Synonymous 8/10 -
17-56492734-A-G RNF43 c.205T>C p.F69L Missense 2/10 -
12-112884167-T-C PTPN11 c.102T>C p.S34= Synonymous 2/16 -
7-148543589-A-C EZH2 c.219T>G p.S73= Synonymous 3/20 -
7-148543589-A-G EZH2 c.219T>C p.S73= Synonymous 3/20 -
7-148543589-A-T EZH2 c.219T>A p.S73= Synonymous 3/20 -
3-178927467-A-G PIK3CA c.1230A>G p.K410= Synonymous 7/21 -
13-28592661-A-G FLT3 c.2484T>C p.C828= Synonymous 20/24 -
2-179415887-A-G TTN c.91371T>C p.Y30457= Synonymous 336/363 -
11-533836-T-C HRAS c.220A>G p.T74A Missense 3/6 -
12-121431405-T-C HNF1A c.609T>C p.R203= Synonymous 3/10 -
19-3121091-A-G GNA11 c.994A>G p.T332A Missense 7/7 -
19-3121116-T-C GNA11 c.1019T>C p.V340A Missense 7/7 -
19-17947967-A-G JAK3 c.1757T>C p.L586P Missense 13/24 -
22-24143164-A-G SMARCB1 c.396A>G p.V132= Synonymous 4/9 -
22-40058213-C-T CACNA1I c.3145C>T p.R1049C Missense 17/37 -
2-179486381-G-A TTN c.45170C>T p.P15057L Missense 245/363 -
2-179486451-T-C TTN c.45100A>G p.T15034A Missense 245/363 -
2-209113129-T-C IDH1 c.378A>G p.K126= Synonymous 4/10 -
2-212530136-C-T ERBB4 c.1783G>A p.D595N Missense 15/28 -
2-212587252-A-G ERBB4 c.749T>C p.M250T Missense 7/28 -
3-178916841-A-G PIK3CA c.228A>G p.E76= Synonymous 2/21 -
7-151845777-A-G KMT2C c.13235T>C p.L4412S Missense 52/59 -
7-151891572-T-C KMT2C c.4460A>G p.Q1487R Missense 29/59 -
9-139399404-A-G NOTCH1 c.4739T>C p.M1580T Missense 26/34 -
10-43609104-C-T RET c.1860C>T p.C620= Synonymous 10/20 -
11-533889-A-G HRAS c.167T>C p.L56P Missense 3/6 -
3-41274881-T-G CTNNB1 c.1131T>G p.L377= Synonymous 8/15 -
3-41274881-T-A CTNNB1 c.1131T>A p.L377= Synonymous 8/15 -
3-41274881-T-C CTNNB1 c.1131T>C p.L377= Synonymous 8/15 -
2-179604554-AG-GA TTN c.13405_13406delCTinsTC p.L4469S Missense 48/363 -
22-40058231-CGG-TGT CACNA1I c.3163_3165delCGGinsTGT p.R1055C Missense 17/37 -
4-1803631-A-G FGFR3 c.809A>G p.D270G Missense 7/18 -
4-1808945-C-T FGFR3 c.2377C>T p.L793= Synonymous 18/18 -
4-55144625-A-G PDGFRA c.2099A>G p.K700R Missense 15/23 -
4-55955071-T-C KDR c.3474A>G p.E1158= Synonymous 26/30 -
4-55962479-A-G KDR c.2645T>C p.L882P Missense 19/30 -
7-128845132-A-G SMO c.626A>G p.D209G Missense 3/12 -
7-128846037-T-C SMO c.967T>C p.Y323H Missense 5/12 -
7-128846085-T-C SMO c.1015T>C p.W339R Missense 5/12 -
7-128850378-T-C SMO c.1641T>C p.R547= Synonymous 9/12 -
7-140481453-A-G BRAF c.1355T>C p.I452T Missense 11/18 -
7-151845742-A-G KMT2C c.13270T>C p.L4424= Synonymous 52/59 -
4-55144613-A-G PDGFRA c.2087A>G p.H696R Missense 15/23 -
13-49037936-A-G RB1 c.2176A>G p.T726A Missense 21/27 -
17-7579371-T-C TP53 c.316A>G p.S106G Missense 4/11 -
17-37880254-A-G ERBB2 c.2298A>G p.E766= Synonymous 19/27 -
17-56437518-T-C RNF43 c.944A>G p.N315S Missense 8/10 -
17-56437528-A-G RNF43 c.934T>C p.C312R Missense 8/10 -
17-56448384-A-G RNF43 c.263T>C p.L88P Missense 3/10 -
18-48575686-A-G SMAD4 c.446A>G p.Q149R Missense 4/12 -
18-48581192-T-C SMAD4 c.496T>C p.F166L Missense 5/12 -
18-48581321-A-G SMAD4 c.625A>G p.T209A Missense 5/12 -
7-128845106-A-G SMO c.600A>G p.T200= Synonymous 3/12 -
18-48584726-G-A SMAD4 c.804G>A p.W268* Nonsense 7/12 -
18-48584795-C-T SMAD4 c.873C>T p.H291= Synonymous 7/12 -
18-48593419-A-G SMAD4 c.1170A>G p.E390= Synonymous 10/12 -
18-48593431-A-G SMAD4 c.1182A>G p.E394= Synonymous 10/12 -
19-1207089-T-C STK11 c.177T>C p.S59= Synonymous 1/10 -
19-1223076-T-C STK11 c.1013T>C p.V338A Missense 8/10 -
1-43814996-C-T MPL c.1531C>T p.L511= Synonymous 10/12 -
2-179415775-T-C TTN c.91483A>G p.R30495G Missense 336/363 -
3-178927456-T-C PIK3CA c.1219T>C p.C407R Missense 7/21 -
13-49037876-T-C RB1 c.2116T>C p.C706R Missense 21/27 -
7-55233112-A-G EGFR c.1862A>G p.H621R Missense 15/28 -
7-128850328-G-A SMO c.1591G>A p.A531T Missense 9/12 -
7-140453188-A-G BRAF c.1747T>C p.F583L Missense 15/18 -
7-140481432-A-G BRAF c.1376T>C p.V459A Missense 11/18 -
7-151845716-G-A KMT2C c.13296C>T p.C4432= Synonymous 52/59 -
1-43804358-C-A MPL c.358C>A p.R120= Synonymous 3/12 -
1-43804360-G-A MPL c.360G>A p.R120= Synonymous 3/12 -
1-43804360-G-C MPL c.360G>C p.R120= Synonymous 3/12 -
1-43804360-G-T MPL c.360G>T p.R120= Synonymous 3/12 -
18-48573659-G-A SMAD4 c.243G>A p.R81= Synonymous 2/12 -
18-48573657-A-C SMAD4 c.241A>C p.R81= Synonymous 2/12 -
13-48921976-A-G RB1 c.516A>G p.I172M Missense 5/27 -
17-56439965-G-A RNF43 c.627C>T p.I209= Synonymous 6/10 -
22-24134056-T-C SMARCB1 c.207T>C p.G69= Synonymous 2/9 -
5-112154668-A-G APC c.939A>G p.E313= Synonymous 10/16 -
11-108236124-G-A ATM c.9060G>A p.V3020= Synonymous 63/63 -
10-43596050-T-C RET c.217T>C p.Y73H Missense 2/20 -
22-40058158-A-G CACNA1I c.3090A>G p.A1030= Synonymous 17/37 -
4-55151639-T-C PDGFRA c.2425T>C p.L809= Synonymous 17/23 -
16-68846073-T-C CDH1 c.1044T>C p.A348= Synonymous 8/16 -
17-56440922-A-G RNF43 c.415T>C p.F139L Missense 4/10 -
19-17954271-T-C JAK3 c.338A>G p.E113G Missense 4/24 -
5-112175352-T-C APC c.4061T>C p.F1354S Missense 16/16 -
9-80336293-A-G GNAQ c.1026T>C p.A342= Synonymous 7/7 -
10-43609954-A-G RET c.1906A>G p.T636A Missense 11/20 -
10-89717662-A-G PTEN c.687A>G p.S229= Synonymous 7/9 -
13-49037878-T-C RB1 c.2118T>C p.C706= Synonymous 21/27 -
18-48604758-T-C SMAD4 c.1580T>C p.I527T Missense 12/12 -
19-3118941-C-T GNA11 c.625C>T p.Q209* Nonsense 5/7 -
19-3119023-A-G GNA11 c.707A>G p.D236G Missense 5/7 -
17-56440691-A-G RNF43 c.527T>C p.V176A Missense 5/10 -
2-29443637-T-C ALK c.3580A>G p.I1194V Missense 23/29 -
2-29443653-T-C ALK c.3564A>G p.Q1188= Synonymous 23/29 -
2-179486426-A-G TTN c.45125T>C p.V15042A Missense 245/363 -
4-1803602-G-A FGFR3 c.780G>A p.P260= Synonymous 7/18 -
4-55152073-T-C PDGFRA c.2505T>C p.C835= Synonymous 18/23 -
4-55979565-T-C KDR c.882A>G p.I294M Missense 7/30 -
7-55249065-T-C EGFR c.2363T>C p.L788P Missense 20/28 -
7-128845090-T-C SMO c.584T>C p.V195A Missense 3/12 -
7-128846422-A-G SMO c.1258A>G p.I420V Missense 6/12 -
22-40038863-A-G CACNA1I c.1118A>G p.Y373C Missense 7/37 -
7-128851605-A-G SMO c.1930A>G p.T644A Missense 11/12 -
7-151845986-A-G KMT2C c.13026T>C p.F4342= Synonymous 52/59 -
7-151878957-T-C KMT2C c.5988A>G p.K1996= Synonymous 36/59 -
9-139397771-T-C NOTCH1 c.5030A>G p.Y1677C Missense 27/34 -
12-25378606-T-C KRAS c.392A>G p.Q131R Missense 4/5 -
12-121431973-A-G HNF1A c.720A>G p.E240= Synonymous 4/10 -
12-121432046-T-C HNF1A c.793T>C p.Y265H Missense 4/10 -
13-28592657-A-G FLT3 c.2488T>C p.F830L Missense 20/24 -
17-37881445-A-G ERBB2 c.2637A>G p.A879= Synonymous 21/27 -
17-56440695-A-G RNF43 c.523T>C p.F175L Missense 5/10 -
18-48603058-T-C SMAD4 c.1359T>C p.T453= Synonymous 11/12 -
19-1207061-T-C STK11 c.149T>C p.L50P Missense 1/10 -
19-3115039-T-C GNA11 c.574T>C p.Y192H Missense 4/7 -
19-3119254-C-T GNA11 c.786C>T p.P262= Synonymous 6/7 -
22-24143136-A-G SMARCB1 c.368A>G p.Q123R Missense 4/9 -
22-40058210-C-T CACNA1I c.3142C>T p.H1048Y Missense 17/37 -
1-115256489-T-C NRAS c.222A>G p.T74= Synonymous 3/7 -
2-29432735-A-G ALK c.3753T>C p.A1251= Synonymous 25/29 -
2-212578329-T-C ERBB4 c.928A>G p.S310G Missense 8/28 -
4-55602766-T-C KIT c.2587T>C p.F863L Missense 18/21 -
7-55233015-C-T EGFR c.1765C>T p.P589S Missense 15/28 -
7-55242477-A-G EGFR c.2247A>G p.E749= Synonymous 19/28 -
5-112174313-A-G APC c.3022A>G p.I1008V Missense 16/16 -
7-151946967-T-C KMT2C c.1807A>G p.I603V Missense 13/59 -
16-68835646-A-G CDH1 c.237A>G p.T79= Synonymous 3/16 -
16-68835646-A-T CDH1 c.237A>T p.T79= Synonymous 3/16 -
16-68835646-A-C CDH1 c.237A>C p.T79= Synonymous 3/16 -
10-123279583-A-G FGFR2 c.849T>C p.D283= Synonymous 7/18 -
11-534276-T-C HRAS c.47A>G p.K16R Missense 2/6 -
11-534292-C-T HRAS c.31G>A p.A11T Missense 2/6 -
12-121431483-A-G HNF1A c.687A>G p.R229= Synonymous 3/10 -
13-48919259-A-G RB1 c.424A>G p.T142A Missense 4/27 -
13-48941644-T-C RB1 c.954T>C p.S318= Synonymous 10/27 -
13-48942674-A-G RB1 c.1061A>G p.Q354R Missense 11/27 -
13-49033883-C-T RB1 c.2020C>T p.P674S Missense 20/27 -
17-56439952-G-A RNF43 c.640C>T p.L214= Synonymous 6/10 -
4-1803668-G-A FGFR3 c.846G>A p.Q282= Synonymous 7/18 -
16-68857514-A-G CDH1 c.2149A>G p.I717V Missense 13/16 -
4-55152036-A-G PDGFRA c.2468A>G p.N823S Missense 18/23 -
4-55593447-T-C KIT c.1604T>C p.M535T Missense 10/21 -
4-55953794-A-G KDR c.3642T>C p.Y1214= Synonymous 27/30 -
4-55980341-A-G KDR c.750T>C p.T250= Synonymous 6/30 -
4-55980369-T-C KDR c.722A>G p.K241R Missense 6/30 -
5-112175333-A-G APC c.4042A>G p.R1348G Missense 16/16 -
9-133750306-A-G ABL1 c.1137A>G p.V379= Synonymous 7/11 -
2-179640854-T-C TTN c.5737A>G p.T1913A Missense 28/363 -
17-56435170-C-T RNF43 c.1967G>A p.R656K Missense 9/10 -
7-151878876-A-G KMT2C c.6069T>C p.P2023= Synonymous 36/59 -
9-21971124-G-A CDKN2A c.234C>T p.L78= Synonymous 2/3 -
11-108117704-A-G ATM c.915A>G p.S305= Synonymous 8/63 -
19-17943419-G-A JAK3 c.2589C>T p.D863= Synonymous 19/24 -
2-179415808-T-C TTN c.91450A>G p.T30484A Missense 336/363 -
17-56435986-C-T RNF43 c.1151G>A p.G384D Missense 9/10 -
18-48581216-A-G SMAD4 c.520A>G p.T174A Missense 5/12 -
7-116418878-T-C MET c.3389T>C p.I1130T Missense 17/21 -
4-55948183-A-G KDR c.3788T>C p.V1263A Missense 29/30 -
7-151904417-A-G KMT2C c.3809T>C p.V1270A Missense 24/59 -
7-128851483-T-C SMO c.1808T>C p.L603S Missense 11/12 -
7-128851570-T-C SMO c.1895T>C p.I632T Missense 11/12 -
7-151878355-T-C KMT2C c.6590A>G p.Q2197R Missense 36/59 -
7-151891544-T-C KMT2C c.4488A>G p.L1496= Synonymous 29/59 -
9-133750363-A-G ABL1 c.1194A>G p.G398= Synonymous 7/11 -
12-112920002-T-C PTPN11 c.1217T>C p.V406A Missense 10/16 -
18-48584776-A-G SMAD4 c.854A>G p.N285S Missense 7/12 -
18-48593447-A-G SMAD4 c.1198A>G p.R400G Missense 10/12 -
19-1221232-T-C STK11 c.755T>C p.L252P Missense 6/10 -
19-3121004-C-T GNA11 c.907C>T p.Q303* Nonsense 7/7 -
1-115258704-G-A NRAS c.78C>T p.N26= Synonymous 2/7 -
2-212576840-A-G ERBB4 c.1059T>C p.I353= Synonymous 9/28 -
3-10183866-A-G VHL c.335A>G p.Y112C Missense 1/3 -
3-178916847-A-G PIK3CA c.234A>G p.E78= Synonymous 2/21 -
13-28626801-A-G FLT3 c.495T>C p.L165= Synonymous 5/24 -
19-1221326-T-C STK11 c.849T>C p.S283= Synonymous 6/10 -
19-3119246-A-G GNA11 c.778A>G p.T260A Missense 6/7 -
2-179650468-A-G TTN c.2372T>C p.I791T Missense 15/363 -
9-80336361-T-C GNAQ c.958A>G p.S320G Missense 7/7 -
8-38285545-T-C FGFR1 c.515A>G p.K172R Missense 5/18 -
7-140508793-T-C BRAF c.507A>G p.V169= Synonymous 4/18 -
9-80336427-G-A GNAQ c.892C>T p.P298S Missense 7/7 -
9-139397689-T-C NOTCH1 c.5112A>G p.G1704= Synonymous 27/34 -
10-43609943-A-G RET c.1895A>G p.E632G Missense 11/20 -
7-55273019-T-C EGFR c.3342T>C p.P1114= Synonymous 28/28 -
7-55273050-T-C EGFR c.3373T>C p.Y1125H Missense 28/28 -
7-128845155-T-C SMO c.649T>C p.C217R Missense 3/12 -
3-37067315-A-G MLH1 c.1226A>G p.Q409R Missense 12/19 -
3-178927485-A-G PIK3CA c.1248A>G p.K416= Synonymous 7/21 -
3-178938838-G-A PIK3CA c.2080G>A p.A694T Missense 14/21 -
4-55144594-A-G PDGFRA c.2068A>G p.R690G Missense 15/23 -
19-1218481-A-G STK11 c.356A>G p.N119S Missense 2/10 -
18-48581176-T-G SMAD4 c.480T>G p.D160E Missense 5/12 -
11-108170496-T-C ATM c.5061T>C p.A1687= Synonymous 34/63 -
11-108173653-T-C ATM c.5393T>C p.L1798P Missense 36/63 -
11-108173657-T-C ATM c.5397T>C p.S1799= Synonymous 36/63 -
11-108173666-T-C ATM c.5406T>C p.H1802= Synonymous 36/63 -
13-28610171-T-C FLT3 c.1319A>G p.Q440R Missense 11/24 -
17-37881012-T-C ERBB2 c.2341T>C p.Y781H Missense 20/27 -
17-56448312-G-A RNF43 c.335C>T p.P112L Missense 3/10 -
19-1207094-G-A STK11 c.182G>A p.G61D Missense 1/10 -
19-1223114-G-A STK11 c.1051G>A p.E351K Missense 8/10 -
19-3121032-T-C GNA11 c.935T>C p.M312T Missense 7/7 -
19-17945689-A-G JAK3 c.2171T>C p.M724T Missense 16/24 -
22-24143151-A-G SMARCB1 c.383A>G p.N128S Missense 4/9 -
2-179595728-T-C TTN c.17664A>G p.K5888= Synonymous 60/363 -
13-48955509-T-C RB1 c.1625T>C p.L542S Missense 17/27 -
13-49033937-T-C RB1 c.2074T>C p.Y692H Missense 20/27 -
13-28610134-A-G FLT3 c.1356T>C p.C452= Synonymous 11/24 -
19-17954231-A-G JAK3 c.378T>C p.S126= Synonymous 4/24 -
3-178947141-A-G PIK3CA c.2577A>G p.Q859= Synonymous 18/21 -
7-151845988-A-G KMT2C c.13024T>C p.F4342L Missense 52/59 -
9-139390739-G-A NOTCH1 c.7452C>T p.P2484= Synonymous 34/34 -
10-43615542-A-G RET c.2621A>G p.D874G Missense 15/20 -
11-108155114-A-G ATM c.3907A>G p.T1303A Missense 26/63 -
12-112888137-C-T PTPN11 c.153C>T p.V51= Synonymous 3/16 -
13-49039157-A-G RB1 c.2235A>G p.K745= Synonymous 22/27 -
17-56436093-A-G RNF43 c.1044T>C p.H348= Synonymous 9/10 -
17-56440660-A-G RNF43 c.558T>C p.I186= Synonymous 5/10 -
18-48584748-T-C SMAD4 c.826T>C p.Y276H Missense 7/12 -
19-3119280-T-C GNA11 c.812T>C p.L271P Missense 6/7 -
19-3121065-T-G GNA11 c.968T>G p.I323S Missense 7/7 -
19-3121157-A-G GNA11 c.1060A>G p.K354E Missense 7/7 -
17-37881345-T-C ERBB2 c.2537T>C p.L846S Missense 21/27 -
7-128845170-T-C SMO c.664T>C p.F222L Missense 3/12 -
7-151904441-T-C KMT2C c.3785A>G p.K1262R Missense 24/59 -
2-179594912-A-G TTN c.18215T>C p.F6072S Missense 62/363 -
2-179594956-G-A TTN c.18171C>T p.A6057= Synonymous 62/363 -
10-123274815-T-C FGFR2 c.1103A>G p.E368G Missense 9/18 -
4-55962508-T-C KDR c.2616A>G p.E872= Synonymous 19/30 -
5-112103013-T-C APC c.348T>C p.G116= Synonymous 4/16 -
7-128845087-A-G SMO c.581A>G p.E194G Missense 3/12 -
7-128845181-T-C SMO c.675T>C p.A225= Synonymous 3/12 -
7-128851600-T-C SMO c.1925T>C p.V642A Missense 11/12 -
7-140481424-T-C BRAF c.1384A>G p.R462G Missense 11/18 -
7-151891537-T-C KMT2C c.4495A>G p.M1499V Missense 29/59 -
5-112175347-T-C APC c.4056T>C p.V1352= Synonymous 16/16 -
4-55156613-G-A PDGFRA c.3014G>A p.G1005D Missense 22/23 -
19-17937598-A-G JAK3 c.3329T>C p.F1110S Missense 24/24 -
7-128845185-C-T SMO c.679C>T p.H227Y Missense 3/12 -
10-89692842-A-G PTEN c.326A>G p.D109G Missense 5/9 -
19-1207123-A-G STK11 c.211A>G p.T71A Missense 1/10 -
19-3118944-C-T GNA11 c.628C>T p.R210W Missense 5/7 -
19-3118984-T-C GNA11 c.668T>C p.V223A Missense 5/7 -
19-3121121-G-A GNA11 c.1024G>A p.A342T Missense 7/7 -
2-29443640-A-G ALK c.3577T>C p.F1193L Missense 23/29 -
2-209113104-A-G IDH1 c.403T>C p.Y135H Missense 4/10 -
3-37067320-A-G MLH1 c.1231A>G p.I411V Missense 12/19 -
4-55961053-A-G KDR c.2887T>C p.L963= Synonymous 21/30 -
5-112173910-T-C APC c.2619T>C p.S873= Synonymous 16/16 -
9-21970938-A-G CDKN2A c.420T>C p.S140= Synonymous 2/3 -
11-108236174-A-G ATM c.9110A>G p.Q3037R Missense 63/63 -
12-112888194-A-G PTPN11 c.210A>G p.K70= Synonymous 3/16 -
10-89624305-T-C PTEN c.79T>C p.Y27H Missense 1/9 -
17-56437582-A-G RNF43 c.880T>C p.F294L Missense 8/10 -
22-40054960-G-A CACNA1I c.2169G>A p.A723= Synonymous 12/37 -
11-108142054-A-G ATM c.2998A>G p.N1000D Missense 20/63 -
12-25380307-A-G KRAS c.151T>C p.C51R Missense 3/5 -
7-151878933-A-G KMT2C c.6012T>C p.S2004= Synonymous 36/59 -
12-112891161-T-C PTPN11 c.495T>C p.S165= Synonymous 4/16 -
9-80412563-A-G GNAQ c.478T>C p.Y160H Missense 4/7 -
9-133748418-T-C ABL1 c.1079T>C p.I360T Missense 6/11 -
9-139390839-A-G NOTCH1 c.7352T>C p.L2451P Missense 34/34 -
10-89624257-A-G PTEN c.31A>G p.R11G Missense 1/9 -
10-105657352-A-G STN1 c.707T>C p.L236P Missense 7/10 -
7-151949064-T-C KMT2C c.1581A>G p.L527= Synonymous 11/59 -
11-108170492-T-C ATM c.5057T>C p.I1686T Missense 34/63 -
11-108173706-A-G ATM c.5446A>G p.S1816G Missense 36/63 -
11-108205740-A-G ATM c.8055A>G p.S2685= Synonymous 55/63 -
12-112926831-T-C PTPN11 c.1451T>C p.V484A Missense 13/16 -
12-121431447-C-T HNF1A c.651C>T p.A217= Synonymous 3/10 -
13-48955506-A-G RB1 c.1622A>G p.N541S Missense 17/27 -
22-40058107-C-T CACNA1I c.3039C>T p.G1013= Synonymous 17/37 -
1-115258741-A-G NRAS c.41T>C p.V14A Missense 2/7 -
4-1808336-C-T FGFR3 c.2094C>T p.I698= Synonymous 16/18 -
7-128846414-A-G SMO c.1250A>G p.Y417C Missense 6/12 -
7-128850345-C-T SMO c.1608C>T p.V536= Synonymous 9/12 -
9-139418430-A-G NOTCH1 c.142T>C p.C48R Missense 3/34 -
10-105670297-A-G STN1 c.217T>C p.Y73H Missense 3/10 -
4-1808330-C-T FGFR3 c.2088C>T p.P696= Synonymous 16/18 -
18-48573472-T-C SMAD4 c.56T>C p.I19T Missense 2/12 -
15-90631917-T-C IDH2 c.436A>G p.T146A Missense 4/11 -
16-68835659-A-G CDH1 c.250A>G p.T84A Missense 3/16 -
17-37880255-A-G ERBB2 c.2299A>G p.I767V Missense 19/27 -
17-37881036-T-C ERBB2 c.2365T>C p.C789R Missense 20/27 -
17-56492881-T-C RNF43 c.58A>G p.T20A Missense 2/10 -
18-48575135-A-G SMAD4 c.329A>G p.K110R Missense 3/12 -
18-48575179-A-G SMAD4 c.373A>G p.S125G Missense 3/12 -
19-1221235-A-G STK11 c.758A>G p.Y253C Missense 6/10 -
19-17945777-A-C JAK3 c.2083T>G p.C695G Missense 16/24 -
17-56440913-T-C RNF43 c.424A>G p.T142A Missense 4/10 -
9-139390817-G-A NOTCH1 c.7374C>T p.P2458= Synonymous 34/34 -
9-139399346-C-T NOTCH1 c.4797G>A p.V1599= Synonymous 26/34 -
10-43613824-A-G RET c.2288A>G p.N763S Missense 13/20 -
13-28608317-T-C FLT3 c.1739A>G p.Q580R Missense 14/24 -
17-56440916-T-C RNF43 c.421A>G p.I141V Missense 4/10 -
18-48604741-A-G SMAD4 c.1563A>G p.T521= Synonymous 12/12 -
3-178938916-A-G PIK3CA c.2158A>G p.K720E Missense 14/21 -
4-1806100-T-C FGFR3 c.1119T>C p.Y373= Synonymous 9/18 -
7-151845731-C-T KMT2C c.13281G>A p.W4427* Nonsense 52/59 -
11-108137904-T-C ATM c.2473T>C p.F825L Missense 17/63 -
17-7573992-A-G TP53 c.1035T>C p.N345= Synonymous 10/11 -
18-48575120-A-G SMAD4 c.314A>G p.H105R Missense 3/12 -
17-56432341-T-C RNF43 c.2315A>G p.E772G Missense 10/10 -
11-533818-A-G HRAS c.238T>C p.C80R Missense 3/6 -
19-3094674-T-C GNA11 c.25T>C p.C9R Missense 1/7 -
11-108155015-T-C ATM c.3808T>C p.S1270P Missense 26/63 -
2-179415817-A-G TTN c.91441T>C p.Y30481H Missense 336/363 -
2-179594977-T-C TTN c.18150A>G p.K6050= Synonymous 62/363 -
2-179595010-T-C TTN c.18117A>G p.A6039= Synonymous 62/363 -
2-212652782-A-G ERBB4 c.524T>C p.L175S Missense 4/28 -
3-10188278-A-G VHL c.421A>G p.N141D Missense 2/3 -
3-37067300-T-C MLH1 c.1211T>C p.L404P Missense 12/19 -
7-116340225-T-C MET c.1087T>C p.C363R Missense 2/21 -
7-116411989-A-G MET c.2974A>G p.T992A Missense 14/21 -
7-128845143-T-C SMO c.637T>C p.C213R Missense 3/12 -
7-128843420-A-G SMO c.527A>G p.E176G Missense 2/12 -
10-89717693-T-C PTEN c.718T>C p.Y240H Missense 7/9 -
10-105658666-T-C STN1 c.550A>G p.S184G Missense 6/10 -
11-108236143-A-G ATM c.9079A>G p.S3027G Missense 63/63 -
13-48923155-T-C RB1 c.603T>C p.A201= Synonymous 6/27 -
19-17947997-A-G JAK3 c.1727T>C p.M576T Missense 13/24 -
19-3119046-A-G GNA11 c.730A>G p.N244D Missense 5/7 -
5-112154887-A-G APC c.1158A>G p.A386= Synonymous 10/16 -
13-28602402-C-T FLT3 c.1966G>A p.E656K Missense 16/24 -
19-1223137-T-C STK11 c.1074T>C p.D358= Synonymous 8/10 -
19-3118978-A-G GNA11 c.662A>G p.E221G Missense 5/7 -
19-17947950-T-C JAK3 c.1774A>G p.M592V Missense 13/24 -
22-40055804-T-C CACNA1I c.2551T>C p.Y851H Missense 14/37 -
9-80412490-A-G GNAQ c.551T>C p.V184A Missense 4/7 -
11-534265-T-C HRAS c.58A>G p.T20A Missense 2/6 -
17-37880229-A-C ERBB2 c.2273A>C p.N758T Missense 19/27 -
17-56440748-A-G RNF43 c.470T>C p.L157P Missense 5/10 -
22-40030597-T-C CACNA1I c.608T>C p.L203P Missense 5/37 -
13-48941677-A-G RB1 c.987A>G p.K329= Synonymous 10/27 -
13-49033946-A-G RB1 c.2083A>G p.M695V Missense 20/27 -
15-90631902-G-A IDH2 c.451C>T p.P151S Missense 4/11 -
17-37880231-A-G ERBB2 c.2275A>G p.T759A Missense 19/27 -
17-56436099-G-A RNF43 c.1038C>T p.P346= Synonymous 9/10 -
19-1207024-C-T STK11 c.112C>T p.P38S Missense 1/10 -
4-55133478-T-C PDGFRA c.782T>C p.L261P Missense 6/23 -
2-179650620-A-G TTN c.2325T>C p.T775= Synonymous 14/363 -
18-48573439-A-G SMAD4 c.23A>G p.N8S Missense 2/12 -
19-3121131-A-G GNA11 c.1034A>G p.K345R Missense 7/7 -
22-24134079-A-G SMARCB1 c.230A>G p.K77R Missense 2/9 -
19-1223045-A-G STK11 c.982A>G p.T328A Missense 8/10 -
2-212578315-T-C ERBB4 c.942A>G p.E314= Synonymous 8/28 -
4-55151601-T-C PDGFRA c.2387T>C p.L796S Missense 17/23 -
13-28602327-A-G FLT3 c.2041T>C p.C681R Missense 16/24 -
17-56440920-A-G RNF43 c.417T>C p.F139= Synonymous 4/10 -
17-56492835-G-A RNF43 c.104C>T p.A35V Missense 2/10 -
5-112175533-A-G APC c.4242A>G p.V1414= Synonymous 16/16 -
7-55224340-T-C EGFR c.1121T>C p.V374A Missense 9/28 -
17-56439919-G-A RNF43 c.673C>T p.R225C Missense 6/10 -
19-3114970-A-G GNA11 c.505A>G p.T169A Missense 4/7 -
7-116340255-T-C MET c.1117T>C p.F373L Missense 2/21 -
2-179644110-A-G TTN c.3809T>C p.L1270P Missense 23/363 -
9-80412562-T-C GNAQ c.479A>G p.Y160C Missense 4/7 -
17-37856558-A-G ERBB2 c.67A>G p.T23A Missense 1/27 -
10-105670330-T-C STN1 c.184A>G p.T62A Missense 3/10 -
3-178916927-T-C PIK3CA c.314T>C p.V105A Missense 2/21 -
10-123279593-A-G FGFR2 c.839T>C p.V280A Missense 7/18 -
16-68835602-A-G CDH1 c.193A>G p.R65G Missense 3/16 -
17-56439913-T-C RNF43 c.679A>G p.S227G Missense 6/10 -
22-40056353-A-G CACNA1I c.2609A>G p.D870G Missense 15/37 -
1-115252232-A-G NRAS c.408T>C p.S136= Synonymous 4/7 -
2-179415829-T-C TTN c.91429A>G p.S30477G Missense 336/363 -
16-68846106-A-G CDH1 c.1077A>G p.A359= Synonymous 8/16 -
18-48604765-A-G SMAD4 c.1587A>G p.L529= Synonymous 12/12 -
4-55594214-T-C KIT c.1917T>C p.S639= Synonymous 13/21 -
7-151891592-T-C KMT2C c.4440A>G p.S1480= Synonymous 29/59 -
17-37864682-T-C ERBB2 c.334T>C p.Y112H Missense 3/27 -
17-56448288-A-G RNF43 c.359T>C p.L120P Missense 3/10 -
7-128851488-T-C SMO c.1813T>C p.F605L Missense 11/12 -
19-1221258-T-C STK11 c.781T>C p.Y261H Missense 6/10 -
19-3121075-A-G GNA11 c.978A>G p.S326= Synonymous 7/7 -
3-178927397-T-C PIK3CA c.1160T>C p.L387P Missense 7/21 -
3-37059087-T-C MLH1 c.881T>C p.L294P Missense 10/19 -
3-178947814-T-C PIK3CA c.2689T>C p.F897L Missense 19/21 -
19-17943664-A-G JAK3 c.2425T>C p.Y809H Missense 18/24 -
5-112175512-T-C APC c.4221T>C p.S1407= Synonymous 16/16 -
7-55221820-T-C EGFR c.864T>C p.G288= Synonymous 7/28 -
19-17954228-A-G JAK3 c.381T>C p.A127= Synonymous 4/24 -
2-179486441-A-G TTN c.45110T>C p.L15037P Missense 245/363 -
2-212576797-A-G ERBB4 c.1102T>C p.F368L Missense 9/28 -
19-17955146-A-G JAK3 c.81T>C p.H27= Synonymous 2/24 -
22-39994166-T-C CACNA1I c.247T>C p.C83R Missense 2/37 -
10-105658700-A-G STN1 c.516T>C p.T172= Synonymous 6/10 -
16-68846119-A-G CDH1 c.1090A>G p.T364A Missense 8/16 -
17-37865658-A-G ERBB2 c.527A>G p.N176S Missense 4/27 -
4-55575629-C-T KIT c.1155C>T p.T385= Synonymous 7/21 -
5-112173362-A-G APC c.2071A>G p.N691D Missense 16/16 -
2-179594921-A-G TTN c.18206T>C p.L6069P Missense 62/363 -
4-1803637-A-G FGFR3 c.815A>G p.E272G Missense 7/18 -
19-1207015-A-G STK11 c.103A>G p.I35V Missense 1/10 -
20-36030863-A-G SRC c.1142A>G p.E381G Missense 12/14 -
7-128846122-A-G SMO c.1052A>G p.Q351R Missense 5/12 -
7-128851585-T-C SMO c.1910T>C p.I637T Missense 11/12 -
10-43600451-G-A RET c.677G>A p.R226H Missense 4/20 -
11-534294-C-T HRAS c.29G>A p.G10D Missense 2/6 -
16-68846104-G-A CDH1 c.1075G>A p.A359T Missense 8/16 -
17-7579491-T-C TP53 c.196A>G p.M66V Missense 4/11 -
17-56437599-A-G RNF43 c.863T>C p.I288T Missense 8/10 -
2-212587227-A-G ERBB4 c.774T>C p.C258= Synonymous 7/28 -
4-1803639-T-C FGFR3 c.817T>C p.F273L Missense 7/18 -
1-43803813-C-A MPL c.123C>A p.F41L Missense 2/12 -
7-116339614-A-G MET c.476A>G p.H159R Missense 2/21 -
7-151921700-A-G KMT2C c.2978T>C p.I993T Missense 19/59 -
7-128843418-T-C SMO c.525T>C p.P175= Synonymous 2/12 -
7-148525962-A-G EZH2 c.495T>C p.F165= Synonymous 6/20 -
10-89717737-A-G PTEN c.762A>G p.K254= Synonymous 7/9 -
12-121431990-T-C HNF1A c.737T>C p.V246A Missense 4/10 -
13-28602316-T-C FLT3 c.2052A>G p.S684= Synonymous 16/24 -
19-3119331-T-C GNA11 c.863T>C p.L288P Missense 6/7 -
19-3121112-T-C GNA11 c.1015T>C p.F339L Missense 7/7 -
19-17954242-C-T JAK3 c.367G>A p.D123N Missense 4/24 -
19-17954266-A-G JAK3 c.343T>C p.C115R Missense 4/24 -
22-40058209-G-A CACNA1I c.3141G>A p.A1047= Synonymous 17/37 -
22-24129412-T-C SMARCB1 c.56T>C p.L19P Missense 1/9 -
4-1803663-G-A FGFR3 c.841G>A p.A281T Missense 7/18 -
7-128851982-T-C SMO c.2054T>C p.L685P Missense 12/12 -
7-128846329-A-G SMO c.1165A>G p.I389V Missense 6/12 -
4-1807892-A-G FGFR3 c.1951A>G p.T651A Missense 14/18 -
3-41280625-A-G CTNNB1 c.2138A>G p.D713G Missense 15/15 -
4-55561797-T-C KIT c.187T>C p.F63L Missense 2/21 -
4-1803625-G-A FGFR3 c.803G>A p.G268D Missense 7/18 -
9-80336394-T-C GNAQ c.925A>G p.I309V Missense 7/7 -
13-48955495-A-G RB1 c.1611A>G p.K537= Synonymous 17/27 -
13-28623632-T-C FLT3 c.925A>G p.M309V Missense 8/24 -
4-55594223-A-G KIT c.1926A>G p.K642= Synonymous 13/21 -
19-1221292-A-G STK11 c.815A>G p.Y272C Missense 6/10 -
19-3119243-A-G GNA11 c.775A>G p.I259V Missense 6/7 -
19-17945745-T-C JAK3 c.2115A>G p.E705= Synonymous 16/24 -
3-37067259-A-G MLH1 c.1170A>G p.E390= Synonymous 12/19 -
3-178938908-A-G PIK3CA c.2150A>G p.D717G Missense 14/21 -
4-55595565-A-G KIT c.2055A>G p.K685= Synonymous 14/21 -
5-112173986-A-G APC c.2695A>G p.T899A Missense 16/16 -
5-112111410-A-G APC c.507A>G p.I169M Missense 5/16 -
12-121431970-G-A HNF1A c.717G>A p.A239= Synonymous 4/10 -
19-3119315-A-G GNA11 c.847A>G p.I283V Missense 6/7 -
3-10183825-C-T VHL c.294C>T p.Y98= Synonymous 1/3 -
7-55211057-T-C EGFR c.300T>C p.P100= Synonymous 3/28 -
18-48584761-T-C SMAD4 c.839T>C p.L280S Missense 7/12 -
19-17954254-C-T JAK3 c.355G>A p.G119R Missense 4/24 -
13-28631554-A-T FLT3 c.414T>A p.A138= Synonymous 4/24 -
13-28631554-A-G FLT3 c.414T>C p.A138= Synonymous 4/24 -
13-28631554-A-C FLT3 c.414T>G p.A138= Synonymous 4/24 -
4-55972963-A-G KDR c.1427T>C p.V476A Missense 11/30 -
10-43617457-A-G RET c.2794A>G p.S932G Missense 16/20 -
11-108236170-A-G ATM c.9106A>G p.I3036V Missense 63/63 -
2-212576897-A-G ERBB4 c.1002T>C p.C334= Synonymous 9/28 -
4-1806141-T-C FGFR3 c.1160T>C p.I387T Missense 9/18 -
5-112173993-A-G APC c.2702A>G p.Q901R Missense 16/16 -
5-112175597-A-G APC c.4306A>G p.S1436G Missense 16/16 -
7-128850373-A-G SMO c.1636A>G p.R546G Missense 9/12 -
7-55229295-A-G EGFR c.1602A>G p.E534= Synonymous 13/28 -
11-108172502-A-G ATM c.5305A>G p.T1769A Missense 35/63 -
13-49033942-A-G RB1 c.2079A>G p.E693= Synonymous 20/27 -
17-56432321-A-G RNF43 c.2335T>C p.C779R Missense 10/10 -
17-56440685-T-C RNF43 c.533A>G p.K178R Missense 5/10 -
19-3118988-A-G GNA11 c.672A>G p.T224= Synonymous 5/7 -
5-112175812-T-C APC c.4521T>C p.S1507= Synonymous 16/16 -
19-3119018-A-G GNA11 c.702A>G p.E234= Synonymous 5/7 -
22-40058187-T-C CACNA1I c.3119T>C p.I1040T Missense 17/37 -
2-212589863-T-C ERBB4 c.679A>G p.S227G Missense 6/28 -
7-151846017-T-C KMT2C c.12995A>G p.K4332R Missense 52/59 -
8-38282169-T-C FGFR1 c.794A>G p.K265R Missense 7/18 -
11-533898-A-G HRAS c.158T>C p.L53S Missense 3/6 -
4-55991459-A-G KDR c.2T>C p.M1? Missense 1/30 -
13-48919273-T-C RB1 c.438T>C p.N146= Synonymous 4/27 -
18-48591882-A-G SMAD4 c.1045A>G p.T349A Missense 9/12 -
1-43815029-A-G MPL c.1564A>G p.R522G Missense 10/12 -
1-115252276-T-C NRAS c.364A>G p.T122A Missense 4/7 -
3-178916883-T-C PIK3CA c.270T>C p.C90= Synonymous 2/21 -
3-178916906-T-C PIK3CA c.293T>C p.F98S Missense 2/21 -
4-55152071-T-C PDGFRA c.2503T>C p.C835R Missense 18/23 -
4-55152102-A-G PDGFRA c.2534A>G p.H845R Missense 18/23 -
4-55980389-A-G KDR c.702T>C p.I234= Synonymous 6/30 -
16-68867287-T-C CDH1 c.2534T>C p.L845P Missense 16/16 -
7-55259558-A-G EGFR c.2616A>G p.E872= Synonymous 21/28 -
7-116339668-T-C MET c.530T>C p.V177A Missense 2/21 -
7-140481482-A-G BRAF c.1326T>C p.G442= Synonymous 11/18 -
7-151878959-T-C KMT2C c.5986A>G p.K1996E Missense 36/59 -
9-21971138-C-G CDKN2A c.220G>C p.D74H Missense 2/3 -
7-140501332-A-G BRAF c.740T>C p.F247S Missense 6/18 -
18-48575163-T-C SMAD4 c.357T>C p.F119= Synonymous 3/12 -
16-68847250-T-C CDH1 c.1172T>C p.V391A Missense 9/16 -
4-55979557-A-G KDR c.890T>C p.V297A Missense 7/30 -
5-112174648-T-C APC c.3357T>C p.H1119= Synonymous 16/16 -
7-128846034-T-C SMO c.964T>C p.Y322H Missense 5/12 -
7-151845788-T-C KMT2C c.13224A>G p.E4408= Synonymous 52/59 -
7-140501315-T-C BRAF c.757A>G p.K253E Missense 6/18 -
4-1803681-T-C FGFR3 c.859T>C p.W287R Missense 7/18 -
5-112103044-A-G APC c.379A>G p.S127G Missense 4/16 -
5-112175817-T-C APC c.4526T>C p.L1509P Missense 16/16 -
7-55221839-T-C EGFR c.883T>C p.C295R Missense 7/28 -
8-38279316-T-C FGFR1 c.1080A>G p.E360= Synonymous 8/18 -
7-116339890-A-G MET c.752A>G p.H251R Missense 2/21 -
9-133738364-A-G ABL1 c.764A>G p.E255G Missense 4/11 -
12-121432075-A-G HNF1A c.822A>G p.E274= Synonymous 4/10 -
17-37881447-A-G ERBB2 c.2639A>G p.D880G Missense 21/27 -
2-212587242-A-G ERBB4 c.759T>C p.N253= Synonymous 7/28 -
3-37055997-A-G MLH1 c.752A>G p.Y251C Missense 9/19 -
9-80336239-T-C GNAQ c.1080A>G p.*360= Synonymous 7/7 -
4-55144158-G-A PDGFRA c.1987G>A p.A663T Missense 14/23 -
10-43609073-A-G RET c.1829A>G p.N610S Missense 10/20 -
3-57543249-C-T PDE12 c.1143C>T p.G381= Synonymous 1/3 -
3-57543278-T-C PDE12 c.1172T>C p.F391S Missense 1/3 -
4-55152063-T-C PDGFRA c.2495T>C p.V832A Missense 18/23 -
9-133738326-C-T ABL1 c.726C>T p.I242= Synonymous 4/11 -
9-80343548-T-C GNAQ c.771A>G p.T257= Synonymous 6/7 -
11-108155130-T-C ATM c.3923T>C p.M1308T Missense 26/63 -
11-108170553-A-G ATM c.5118A>G p.K1706= Synonymous 34/63 -
18-48575187-T-C SMAD4 c.381T>C p.C127= Synonymous 3/12 -
19-17948002-G-A JAK3 c.1722C>T p.S574= Synonymous 13/24 -
2-212578309-T-C ERBB4 c.948A>G p.E316= Synonymous 8/28 -
4-55595527-T-C KIT c.2017T>C p.C673R Missense 14/21 -
17-56440706-T-C RNF43 c.512A>G p.K171R Missense 5/10 -
2-179665380-G-T TTN c.325C>A p.R109= Synonymous 4/363 -
2-179665378-T-G TTN c.327A>C p.R109= Synonymous 4/363 -
2-179665378-T-C TTN c.327A>G p.R109= Synonymous 4/363 -
2-179665378-T-A TTN c.327A>T p.R109= Synonymous 4/363 -
7-55240735-T-C EGFR c.1979T>C p.V660A Missense 17/28 -
19-17948000-A-G JAK3 c.1724T>C p.L575S Missense 13/24 -
3-178937807-A-G PIK3CA c.1982A>G p.Q661R Missense 13/21 -
4-55597517-T-C KIT c.2165T>C p.M722T Missense 15/21 -
4-55961052-A-G KDR c.2888T>C p.L963S Missense 21/30 -
7-140481491-T-C BRAF c.1317A>G p.K439= Synonymous 11/18 -
2-212812214-A-G ERBB4 c.362T>C p.L121S Missense 3/28 -
11-533820-A-G HRAS c.236T>C p.L79P Missense 3/6 -
12-121431464-A-G HNF1A c.668A>G p.N223S Missense 3/10 -
19-3115063-A-G GNA11 c.598A>G p.I200V Missense 4/7 -
20-36012637-T-C SRC c.81T>C p.A27= Synonymous 4/14 -
13-48919308-T-C RB1 c.473T>C p.L158S Missense 4/27 -
17-56440711-A-G RNF43 c.507T>C p.A169= Synonymous 5/10 -
19-1207083-A-G STK11 c.171A>G p.E57= Synonymous 1/10 -
19-3121139-A-G GNA11 c.1042A>G p.I348V Missense 7/7 -
22-24143134-A-G SMARCB1 c.366A>G p.E122= Synonymous 4/9 -
2-179640876-A-G TTN c.5715T>C p.Y1905= Synonymous 28/363 -
2-212530060-T-C ERBB4 c.1859A>G p.N620S Missense 15/28 -
2-212578312-T-C ERBB4 c.945A>G p.V315= Synonymous 8/28 -
2-179474229-T-C TTN c.51808A>G p.S17270G Missense 273/363 -
19-17951099-G-A JAK3 c.1194C>T p.S398= Synonymous 9/24 -
18-48586277-A-G SMAD4 c.946A>G p.N316D Missense 8/12 -
11-108236112-A-G ATM c.9048A>G p.K3016= Synonymous 63/63 -
12-121431378-A-G HNF1A c.582A>G p.L194= Synonymous 3/10 -
16-68857324-G-A CDH1 c.1959G>A p.K653= Synonymous 13/16 -
17-56492889-A-G RNF43 c.50T>C p.L17P Missense 2/10 -
18-48573466-T-C SMAD4 c.50T>C p.L17P Missense 2/12 -
7-55233013-GC-G EGFR c.1768delC p.H590Tfs*115 Frameshift 15/28 -
2-212426726-TG-T ERBB4 c.2389delC p.Q797Nfs*31 Frameshift 20/28 -